### LOVD-version 3000-30b ### Full data download ### To import, do not remove or alter this header ###
## Filter: (gene_public = HSF4)
# 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}}"
"HSF4"	"heat shock transcription factor 4"	"16"	"q21"	"unknown"	"NG_009294.1"	"UD_132085399014"	""	"https://www.LOVD.nl/HSF4"	""	"1"	"5227"	"3299"	"602438"	"1"	"1"	"1"	"1"	"<font color=\"#FF0000\">This database is one of the <b>\"Eye disease\"</b> gene variant databases.</font>\r\nEstablishment of this gene variant database (LSDB) was supported by the <a href=\'http://www.LUMC.nl\' target=\'_blank\'>Leiden University Medical Center (LUMC)</a>, Leiden, Nederland."	""	"g"	"https://databases.lovd.nl/shared/refseq/HSF4_codingDNA.html"	"1"	""	"<font color=\"#FF0000\">This database is one of the <b>\"Eye disease\"</b> gene variant databases.</font>"	"-1"	""	"-1"	"00001"	"2010-03-01 00:00:00"	"00006"	"2020-11-25 18:39:06"	"00006"	"2024-01-17 16:50:13"


## 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}}"
"00025822"	"HSF4"	"transcript variant 4"	"000"	"NM_001374675.1"	""	"NP_001361604.1"	""	""	""	"-67"	"1635"	"1479"	"67198648"	"67203844"	"00006"	"2023-03-17 16:20:39"	""	""


## Diseases ## Do not remove or alter this header ##
## Count = 5
"{{id}}"	"{{symbol}}"	"{{name}}"	"{{inheritance}}"	"{{id_omim}}"	"{{tissues}}"	"{{features}}"	"{{remarks}}"	"{{created_by}}"	"{{created_date}}"	"{{edited_by}}"	"{{edited_date}}"
"00198"	"?"	"unclassified / mixed"	""	""	""	""	""	"00006"	"2013-09-13 14:21:47"	"00006"	"2024-11-23 09:38:12"
"00296"	"CTRCT"	"cataract (CTRCT)"	""	""	""	""	""	"00006"	"2014-01-16 08:42:13"	"00006"	"2015-03-07 14:30:33"
"01239"	"CTRCT5"	"cataract, type 5, multiple types (CTRCT-5, lamellar, Marner type)"	"AD"	"116800"	""	""	""	"00006"	"2014-09-25 23:29:40"	"00006"	"2021-12-10 21:51:32"
"04214"	"-"	"retinal disease"	""	""	""	""	""	"00006"	"2015-02-27 19:48:07"	"00001"	"2023-03-09 14:26:26"
"05165"	"CCTRCT"	"cataract, congenital (CCTRCT)"	""	""	""	""	""	"00006"	"2016-05-15 20:37:47"	""	""


## Genes_To_Diseases ## Do not remove or alter this header ##
## Count = 2
"{{geneid}}"	"{{diseaseid}}"
"HSF4"	"00296"
"HSF4"	"01239"


## Individuals ## Do not remove or alter this header ##
## Count = 52
"{{id}}"	"{{fatherid}}"	"{{motherid}}"	"{{panelid}}"	"{{panel_size}}"	"{{license}}"	"{{owned_by}}"	"{{Individual/Reference}}"	"{{Individual/Remarks}}"	"{{Individual/Gender}}"	"{{Individual/Consanguinity}}"	"{{Individual/Origin/Geographic}}"	"{{Individual/Age_of_death}}"	"{{Individual/VIP}}"	"{{Individual/Data_av}}"	"{{Individual/Treatment}}"	"{{Individual/Origin/Population}}"	"{{Individual/Individual_ID}}"
"00060061"	""	""	""	"1"	""	"00227"	""	"1 familie, 2 patients"	"M"	""	"China"	""	"0"	""	""	"Han"	""
"00060063"	""	""	""	"1"	""	"00006"	"{PMID:Bu 2002:12089525}"	"2-generation family, 1 affected, unaffected non-carrier parents"	"M"	""	"China"	""	"0"	""	""	""	"FamIIPatII1"
"00060064"	""	""	""	"2"	""	"00006"	"{PMID:Bu 2002:12089525}"	"2-generation family, affected father/child"	""	""	"China"	""	"0"	""	""	""	"Fam"
"00060065"	""	""	""	"31"	""	"00006"	"{PMID:Bu 2002:12089525}, {DOI:Bu 2002:10.1038/ng921}"	"5-generation family, 31 affecteds (13F, 18M), unaffected heterozygous carrier parents"	"F;M"	"no"	"China"	""	"0"	""	""	""	"FamI"
"00060066"	""	""	""	"17"	""	"00006"	"{PMID:Marner 1989:2728866}, {PMID:Bu 2002:12089525}, {PMID:Kessel 2021:34169787}"	"9-generation family, 17 affected"	"F;M"	""	"Denmark"	""	"0"	""	""	""	"Fam;FamDenmark;CC00101"
"00060211"	""	""	""	"1"	""	"00227"	""	""	"M"	"no"	"China"	""	"0"	""	""	""	""
"00060212"	""	""	""	"1"	""	"00227"	""	""	"M"	""	"China"	""	"0"	""	""	""	""
"00060213"	""	""	""	"1"	""	"00227"	""	""	""	"no"	""	""	"0"	""	""	""	""
"00060214"	""	""	""	"1"	""	"00227"	""	""	"F"	"no"	"China"	""	"0"	""	""	""	""
"00065042"	""	""	""	"2"	""	"00006"	"{PMID:Gillespie 2014:25148791}, {DOI:Gillespie 2014:10.1016/j.ophtha.2014.06.006}"	"has affected mother"	"F"	"no"	""	""	"0"	""	""	""	""
"00065058"	""	""	""	"22"	""	"01588"	"{PMID:Smaoui 2004:15277496}"	""	""	""	"Tunisia"	""	""	""	""	""	""
"00065059"	""	""	""	"5"	""	"01588"	"{PMID:Forshew 2005:15959809}"	""	""	""	"Pakistan"	""	""	""	""	""	""
"00065061"	""	""	""	"5"	""	"01588"	"{PMID:Forshew 2005:15959809}"	""	""	""	"Pakistan"	""	""	""	""	""	""
"00065062"	""	""	""	"7"	""	"01588"	"{PMID:Ke 2006:16876512}"	""	""	""	"China"	""	""	""	""	""	""
"00065063"	""	""	""	"8"	""	"01588"	"{PMID:Sajjad 2008:19014451}"	"4-generation family, 8 affected (5F, 3M), unaffected heterozygous parents/relatives"	"F;M"	"yes"	"Afghanistan;Pakistan"	""	"0"	""	""	""	"BUIT-CA01"
"00065064"	""	""	""	"150"	""	"01588"	"{PMID:Shi 2008:18941546}"	""	""	""	""	""	""	""	""	""	""
"00065065"	""	""	""	"150"	""	"01588"	"{PMID:Shi 2008:18941546}"	""	""	""	""	""	""	""	""	""	""
"00065068"	""	""	""	"10"	""	"01588"	"{PMID:Lv 2014:24637349}"	"family, 10 affected individuals"	""	""	"China"	""	""	""	""	""	""
"00065069"	""	""	""	"8"	""	"01588"	"{PMID:Liu 2015:25877371}"	""	""	""	"China"	""	""	""	""	""	""
"00260865"	""	""	""	"3"	""	"00006"	"{PMID:Chen 2017:28418495}"	"4-generation family, 3 affected (F, 2M), unaffected heterozygous carrier parents/relatives"	"F;M"	""	""	""	"0"	""	""	""	"Fam60074"
"00385473"	""	""	""	"1"	""	"00000"	"{PMID:Lenassi 2020:31848469}"	"retrospective analysis"	"F"	""	"(United Kingdom (Great Britain))"	""	"0"	""	""	""	"15014851"
"00385512"	""	""	""	"1"	""	"00000"	"{PMID:Lenassi 2020:31848469}"	"retrospective analysis"	"F"	""	"(United Kingdom (Great Britain))"	""	"0"	""	""	""	"17003685"
"00392264"	""	""	""	"1"	""	"00000"	"{PMID:Bell 2021:33494148}"	""	"M"	"no"	"(United Kingdom (Great Britain))"	""	"0"	""	""	""	"10"
"00414338"	""	""	""	"1"	""	"00000"	"{PMID:Sun 2018:30076350}"	""	"M"	""	"China"	""	"0"	""	""	""	"WHP5"
"00414346"	""	""	""	"1"	""	"00000"	"{PMID:Sun 2018:30076350}"	""	"F"	""	"China"	""	"0"	""	""	""	"WHP13"
"00434019"	""	""	""	"3"	""	"00006"	"{PMID:Jiao 2022:36670602}"	"2-generation family, affected father and 2 sons"	"M"	""	"Ukraine"	""	"0"	""	""	""	"Fam97001Pat3"
"00434020"	""	""	"00434019"	"1"	""	"00006"	"{PMID:Jiao 2022:36670602}"	"son"	"M"	""	"Ukraine"	""	"0"	""	""	""	"Fam97001Pat4"
"00434032"	""	""	""	"2"	""	"00006"	"{PMID:Zhai 2017:28450710}"	"4-generation family, 2 affected (F, M)"	"F"	""	"China"	""	"0"	""	""	""	"Fam6"
"00434082"	""	""	""	"1"	""	"00006"	"{PMID:Li 2016:27307692}"	""	""	""	"China"	""	"0"	""	""	""	"Pat57"
"00434097"	""	""	""	"6"	""	"00006"	"{PMID:Cao 2018:30143024}"	"3-generation family, 6 affected (4F, 2M)"	"F;M"	""	"China"	""	"0"	""	""	""	"CAT-02"
"00434098"	""	""	""	"2"	""	"00006"	"{PMID:Cao 2018:30143024}"	"2-generation family, 2 affected (2M)"	"M"	""	"China"	""	"0"	""	""	""	"CAT-12"
"00434099"	""	""	""	"2"	""	"00006"	"{PMID:Cao 2018:30143024}"	"2-generation family, 2 affected (F, M)"	"F;M"	""	"China"	""	"0"	""	""	""	"CAT-37"
"00434100"	""	""	""	"3"	""	"00006"	"{PMID:Cao 2018:30143024}"	"3-generation family, 3 affected (F, 2M)"	"F;M"	""	"China"	""	"0"	""	""	""	"CAT-50"
"00434101"	""	""	""	"4"	""	"00006"	"{PMID:Cao 2018:30143024}"	"3-generation family, 4 affected (2F, 2M)"	"F;M"	""	"China"	""	"0"	""	""	""	"CAT-51"
"00434102"	""	""	""	"13"	""	"00006"	"{PMID:Berry 2018:29243736}"	"5-generation family, 13 affected (4F, 9M)"	"F;M"	""	"United Kingdom (Great Britain)"	""	"0"	""	""	""	"family"
"00434110"	""	""	""	"2"	""	"00006"	"{PMID:Hansen 2009:19182255}"	"2-generation family, affected mother/dauhter"	"F"	""	"Denmark"	""	"0"	""	""	""	"CC00171"
"00434111"	""	""	""	"15"	""	"00006"	"{PMID:Hansen 2009:19182255}, {PMID:Kessel 2021:34169787}"	"4-generation family, 15 affected (8F, 7M)"	"F;M"	""	"Denmark"	""	"0"	""	""	""	"CC00128"
"00434115"	""	""	""	"1"	""	"00006"	"{PMID:Cao 2018:30143024}"	""	""	""	"Denmark"	""	"0"	""	""	""	"CC00109"
"00434133"	""	""	""	"20"	""	"00006"	"{PMID:Li 2019:31842807}"	"6-generation family, 20 affected (9F, 11M)"	"M"	""	"China"	""	"0"	""	""	""	"Fam5PatIV12"
"00434149"	""	""	""	"2"	""	"00006"	"{PMID:Behnam 2016:26490182}"	"6-generation family, 2 affected brothers, unaffected heterozygous parents/relatives"	"M"	""	"Iran"	""	"0"	""	""	""	"family"
"00434150"	""	""	""	"5"	""	"00006"	"{PMID:Forshew 2005:15959809}"	"4-generation family, 5 affected brothers/sister (2F, 3M), unaffected heterozygous parents/relatives"	"F;M"	"yes"	"Pakistan"	""	"0"	""	""	""	"FamC"
"00434151"	""	""	""	"5"	""	"00006"	"{PMID:Forshew 2005:15959809}"	"4-generation family, 5 affected (F, 4M), unaffected heterozygous parents/relatives"	"F;M"	"yes"	"Pakistan"	""	"0"	""	""	""	"FamD"
"00434152"	""	""	""	"22"	""	"00006"	"{PMID:Smaoui 2004:15277496}"	"8-generation family, 22 affected (14F, 8M)"	"F;M"	"yes"	"Tunisia"	""	"0"	""	""	""	"family"
"00434182"	""	""	""	"1"	""	"00006"	"{PMID:Fernandez-Alcalde 2021:33923544}"	"2-generation family, 1 affected, unaffected heterozygous parents"	"F"	""	"Spain"	""	"0"	""	""	""	"Fam27"
"00434198"	""	""	""	"4"	""	"00006"	"{PMID:Zhang 2018:30078984}"	"2-generation family, 4 affected (2F, 2M)"	"M"	""	"China"	""	"0"	""	""	""	"WCC18PatII2"
"00434214"	""	""	""	"1"	""	"00006"	"{PMID:Jackson 2020:32830442}"	""	"M"	""	""	""	"0"	""	""	""	"Fam32PatI"
"00444998"	""	""	""	"1"	""	"00006"	"{PMID:Reis 2013:23508780}"	""	""	""	"United States"	""	"0"	""	""	""	"Pat12"
"00445065"	""	""	""	"1"	""	"00006"	"{PMID:Kessel 2021:34169787}"	"patient"	""	""	"Denmark"	""	"0"	""	""	""	"CC00111"
"00445075"	""	""	""	"1"	""	"00006"	"{PMID:Kessel 2021:34169787}"	"patient"	""	""	"Denmark"	""	"0"	""	""	""	"CC0000888"
"00445133"	""	""	""	"4"	""	"00006"	"{PMID:Santhiya 2010:21031021}"	"3-generation family, 4 affected (2F, 2M)"	"F"	""	"India"	""	"0"	""	""	""	"FamJEE13PatIII4"
"00446490"	""	""	""	"1"	""	"00006"	"{PMID:Liu 2023:37337769}"	""	"M"	""	"China"	""	"0"	""	""	""	"Fam93Pat256"
"00446519"	""	""	""	"1"	""	"00006"	"{PMID:Liu 2023:37337769}"	""	"M"	""	"China"	""	"0"	""	""	""	"Fam122Pat325"


## Individuals_To_Diseases ## Do not remove or alter this header ##
## Count = 52
"{{individualid}}"	"{{diseaseid}}"
"00060061"	"00296"
"00060063"	"00296"
"00060064"	"00296"
"00060065"	"01239"
"00060066"	"00296"
"00060211"	"00296"
"00060212"	"00296"
"00060213"	"00296"
"00060214"	"00296"
"00065042"	"05165"
"00065058"	"00296"
"00065059"	"00296"
"00065061"	"00198"
"00065062"	"00296"
"00065063"	"00296"
"00065064"	"00296"
"00065065"	"00296"
"00065068"	"00296"
"00065069"	"00296"
"00260865"	"00296"
"00385473"	"04214"
"00385512"	"04214"
"00392264"	"04214"
"00414338"	"00198"
"00414346"	"00198"
"00434019"	"00296"
"00434020"	"00296"
"00434032"	"00296"
"00434082"	"00296"
"00434097"	"00296"
"00434098"	"00296"
"00434099"	"00296"
"00434100"	"00296"
"00434101"	"00296"
"00434102"	"00296"
"00434110"	"00296"
"00434111"	"00296"
"00434115"	"00296"
"00434133"	"00296"
"00434149"	"00296"
"00434150"	"00296"
"00434151"	"00296"
"00434152"	"00296"
"00434182"	"00296"
"00434198"	"00296"
"00434214"	"00198"
"00444998"	"00296"
"00445065"	"00296"
"00445075"	"00296"
"00445133"	"00296"
"00446490"	"00296"
"00446519"	"00296"


## Phenotypes ## Do not remove or alter this header ##
## Note: Only showing Phenotype columns active for Diseases 00198, 00296, 01239, 04214, 05165
## Count = 50
"{{id}}"	"{{diseaseid}}"	"{{individualid}}"	"{{owned_by}}"	"{{Phenotype/Inheritance}}"	"{{Phenotype/Age}}"	"{{Phenotype/Additional}}"	"{{Phenotype/Age/Onset}}"	"{{Phenotype/Age/Diagnosis}}"	"{{Phenotype/Onset}}"	"{{Phenotype/Protein}}"	"{{Phenotype/Tumor/MSI}}"	"{{Phenotype/Enzyme/CPK}}"	"{{Phenotype/Heart/Myocardium}}"	"{{Phenotype/Lung}}"	"{{Phenotype/Diagnosis/Definite}}"	"{{Phenotype/Diagnosis/Initial}}"	"{{Phenotype/Diagnosis/Criteria}}"
"0000046551"	"00296"	"00060061"	"00227"	"Familial, autosomal dominant"	""	"cataract, congenital"	""	""	""	""	""	""	""	""	""	""	""
"0000046701"	"00296"	"00060211"	"00227"	"Familial, autosomal dominant"	""	"cataract, congenital"	""	""	""	""	""	""	""	""	""	""	""
"0000046702"	"00296"	"00060212"	"00227"	"Familial, autosomal dominant"	""	"cataract, congenital"	""	""	""	""	""	""	""	""	""	""	""
"0000046703"	"00296"	"00060213"	"00227"	"Familial, autosomal dominant"	""	"cataract, congenital"	""	""	""	""	""	""	""	""	""	""	""
"0000046704"	"00296"	"00060214"	"00227"	"Familial, autosomal dominant"	""	"cataract, congenital"	""	""	""	""	""	""	""	""	""	""	""
"0000051167"	"01239"	"00060065"	"00006"	"Familial, autosomal dominant"	""	"lameller cataract (Marner type)"	""	""	""	""	""	""	""	""	""	""	""
"0000051179"	"05165"	"00065042"	"00006"	"Familial, autosomal dominant"	""	"total cataract; horizontal manifest latent nystagmus"	""	""	""	""	""	""	""	""	""	""	""
"0000061156"	"00296"	"00065058"	"01588"	"Unknown"	""	"Congenital cataract"	""	""	""	""	""	""	""	""	""	""	""
"0000061157"	"00296"	"00065059"	"01588"	"Unknown"	""	"Congenital cataract"	""	""	""	""	""	""	""	""	""	""	""
"0000061158"	"00296"	"00065062"	"01588"	"Unknown"	""	"Congenital cataract"	""	""	""	""	""	""	""	""	""	""	""
"0000061159"	"00296"	"00065063"	"01588"	"Familial, autosomal recessive"	""	"congenital cataract"	""	""	""	""	""	""	""	""	""	"cataract"	""
"0000061160"	"00296"	"00065064"	"01588"	"Unknown"	""	"Age related cataracts"	""	""	""	""	""	""	""	""	""	""	""
"0000061161"	"00296"	"00065065"	"01588"	"Unknown"	""	"Age related cataracts"	""	""	""	""	""	""	""	""	""	""	""
"0000061164"	"00296"	"00065068"	"01588"	"Unknown"	""	"Cortical cataract"	""	""	""	""	""	""	""	""	""	""	""
"0000061165"	"00296"	"00065069"	"01588"	"Unknown"	""	"Congenital cataract"	""	""	""	""	""	""	""	""	""	""	""
"0000199397"	"00296"	"00260865"	"00006"	"Familial, autosomal recessive"	""	"see paper; …"	""	""	""	""	""	""	""	""	"CTRCT-5"	"congenital cataract"	""
"0000279268"	"04214"	"00385473"	"00000"	"Familial, autosomal dominant"	""	""	"<1y"	""	""	""	""	""	""	""	"bilateral paediatric cataract"	"congenital cataracts"	""
"0000279307"	"04214"	"00385512"	"00000"	"Familial, autosomal dominant"	""	""	"<1y"	""	""	""	""	""	""	""	"bilateral paediatric cataract"	"congenital cataracts"	""
"0000285542"	"04214"	"00392264"	"00000"	"Familial, autosomal dominant"	"2y"	"congenital cataract"	""	"2m"	""	""	""	""	""	""	"Cataract 5, multiple types"	""	""
"0000306173"	"00198"	"00414338"	"00000"	"Familial, autosomal dominant"	"26y"	""	""	""	""	""	""	""	""	""	"Cataract 5"	""	""
"0000306181"	"00198"	"00414346"	"00000"	"Familial, autosomal dominant"	"6y"	""	""	""	""	""	""	""	""	""	"Cataract 5"	""	""
"0000324398"	"00296"	"00434019"	"00006"	"Familial, autosomal dominant"	""	"congenital nuclear cataract; amblyopia, concomitant strabismus; visual acuity 0.7/0.5"	""	"6y"	""	""	""	""	""	""	"CTRCT5"	"cataract"	""
"0000324399"	"00296"	"00434020"	"00006"	"Familial, autosomal dominant"	""	"congenital hereditary nuclear cataract; axial myopia, amblyopia, concomitant strabismus, lower eyelid tum(Entropon); visual acuity 0.7/0.5"	""	"3y"	""	""	""	""	""	""	"CTRCT5"	"cataract"	""
"0000324411"	"00296"	"00434032"	"00006"	"Familial, autosomal dominant"	"59y"	"lamellar, punctate cataract"	""	""	""	""	""	""	""	""	"CTRCT5"	"cataract"	""
"0000324458"	"00296"	"00434082"	"00006"	"Familial, autosomal dominant"	""	"bilateral nuclear cataract"	""	""	""	""	""	""	""	""	""	"cataract"	""
"0000324464"	"00296"	"00434097"	"00006"	"Familial, autosomal dominant"	""	"perinuclear cataract"	""	""	""	""	""	""	""	""	"CTRCT5"	"cataract"	""
"0000324465"	"00296"	"00434098"	"00006"	"Familial, autosomal dominant"	""	"total cataract"	""	""	""	""	""	""	""	""	"CTRCT5"	"cataract"	""
"0000324466"	"00296"	"00434099"	"00006"	"Familial, autosomal dominant"	""	"nuclear cataract"	""	""	""	""	""	""	""	""	"CTRCT5"	"cataract"	""
"0000324467"	"00296"	"00434100"	"00006"	"Familial, autosomal dominant"	""	"total cataract"	""	""	""	""	""	""	""	""	"CTRCT5"	"cataract"	""
"0000324468"	"00296"	"00434101"	"00006"	"Familial, autosomal dominant"	""	"total cataract"	""	""	""	""	""	""	""	""	"CTRCT5"	"cataract"	""
"0000324469"	"00296"	"00434102"	"00006"	"Familial, autosomal dominant"	""	"see paper; ..., congenital lamellar cataract"	""	""	""	""	""	""	""	""	"CTRCT5"	"cataract"	""
"0000324474"	"00296"	"00434110"	"00006"	"Familial, autosomal dominant"	""	""	""	""	""	""	""	""	""	""	"CTRCT5"	"cataract"	""
"0000324475"	"00296"	"00434111"	"00006"	"Familial, autosomal dominant"	""	""	""	""	""	""	""	""	""	""	"CTRCT5"	"cataract"	""
"0000324487"	"00296"	"00434133"	"00006"	"Familial, autosomal dominant"	""	"see paper; ..., nuclear cataract, white opacities"	""	""	""	""	""	""	""	""	"CTRCT5"	"cataract"	""
"0000324503"	"00296"	"00434149"	"00006"	"Familial, autosomal recessive"	""	"congenital cataract, nystagmus"	""	""	""	""	""	""	""	""	"CTRCT5"	"cataract"	""
"0000324504"	"00296"	"00434150"	"00006"	"Familial, autosomal recessive"	""	"see paper"	""	""	""	""	""	""	""	""	""	"cataract"	""
"0000324505"	"00296"	"00434151"	"00006"	"Familial, autosomal recessive"	""	"see paper"	""	""	""	""	""	""	""	""	""	"cataract"	""
"0000324506"	"00296"	"00434152"	"00006"	"Familial, autosomal recessive"	""	"see paper"	""	""	""	""	""	""	""	""	""	"cataract"	""
"0000324510"	"00296"	"00060063"	"00006"	"Isolated (sporadic)"	"20y"	"infantile cataract, lamellar cataract"	""	""	""	""	""	""	""	""	"CTRCT5"	"cataract"	""
"0000324512"	"00296"	"00060064"	"00006"	"Familial, autosomal recessive"	""	"unilateral cataract; father 46y-mild cataract similar to senile cataracts with cortical water clefts and lamellar separation"	""	""	""	""	""	""	""	""	"CTRCT5"	"cataract"	""
"0000324513"	"00296"	"00060066"	"00006"	"Familial, autosomal recessive"	""	"Marner cataract (zonular stellate lens opacity, anterior polar opacity, early childhood onset)"	""	""	""	""	""	""	""	""	"CTRCT5"	"cataract"	""
"0000324540"	"00296"	"00434182"	"00006"	"Familial, autosomal recessive"	""	"nuclear cataract; no microphthalmia; no microcornea; no iris malformations"	""	""	""	""	""	""	""	""	"CTRCT5"	"cataract"	""
"0000324556"	"00296"	"00434198"	"00006"	"Familial, autosomal dominant"	"38y"	"zonular opacity"	""	""	""	""	""	""	""	""	""	"congenital cataract"	""
"0000324572"	"00198"	"00434214"	"00006"	"Familial, autosomal dominant"	"7m"	"developmental cataract; congenital aphakia"	""	""	""	""	""	""	""	""	"CTRCT5"	"congenital cataract"	""
"0000334249"	"00296"	"00444998"	"00006"	"Familial, autosomal dominant"	""	"congenital cataract"	""	""	""	""	""	""	""	""	""	"cataract"	""
"0000334317"	"00296"	"00445065"	"00006"	"Familial, autosomal dominant"	""	"cataract"	""	""	""	""	""	""	""	""	"CTRCT5"	"cataract"	""
"0000334327"	"00296"	"00445075"	"00006"	"Familial, autosomal dominant"	""	"isolated cataract"	""	""	""	""	""	""	""	""	"CTRCT5"	"cataract"	""
"0000334386"	"00296"	"00445133"	"00006"	"Unknown"	"6y"	"see paper; ..., triangular central cataract surrounded by cataractous dots and fibers in lens cortex; mother bilateral lamellar with peripheral coronary cataract"	""	""	""	""	""	""	""	""	""	"cataract"	""
"0000335707"	"00296"	"00446490"	"00006"	"Familial, autosomal dominant"	""	"bilateral congenital cataract"	""	""	""	""	""	""	""	""	"CTRCT5"	"congenital catarct"	""
"0000335732"	"00296"	"00446519"	"00006"	"Familial, autosomal dominant"	""	"bilateral congenital cataract"	""	""	""	""	""	""	""	""	"CTRCT5"	"congenital catarct"	""


## Screenings ## Do not remove or alter this header ##
## Count = 52
"{{id}}"	"{{individualid}}"	"{{variants_found}}"	"{{owned_by}}"	"{{created_by}}"	"{{created_date}}"	"{{edited_by}}"	"{{edited_date}}"	"{{Screening/Technique}}"	"{{Screening/Template}}"	"{{Screening/Tissue}}"	"{{Screening/Remarks}}"
"0000060048"	"00060061"	"1"	"00227"	"00227"	"2011-11-16 02:38:47"	""	""	"SEQ"	"DNA"	""	""
"0000060050"	"00060063"	"1"	"00006"	"00006"	"2011-11-17 22:56:24"	""	""	"SEQ"	"DNA"	""	""
"0000060051"	"00060064"	"1"	"00006"	"00006"	"2011-11-17 22:56:24"	""	""	"SEQ"	"DNA"	""	""
"0000060052"	"00060065"	"1"	"00006"	"00006"	"2011-11-17 22:56:24"	""	""	"SEQ"	"DNA"	""	""
"0000060053"	"00060066"	"1"	"00006"	"00006"	"2011-11-17 22:56:24"	""	""	"SEQ"	"DNA"	""	""
"0000060198"	"00060211"	"1"	"00227"	"00227"	"2015-01-14 02:45:57"	""	""	"SEQ"	"DNA"	""	""
"0000060199"	"00060212"	"1"	"00227"	"00227"	"2015-01-14 03:16:04"	""	""	"SEQ"	"DNA"	""	""
"0000060200"	"00060213"	"1"	"00227"	"00227"	"2015-01-14 03:47:46"	""	""	"SEQ"	"DNA"	""	""
"0000060201"	"00060214"	"1"	"00227"	"00227"	"2015-01-14 04:44:16"	""	""	"SEQ"	"DNA"	""	""
"0000065184"	"00065042"	"1"	"00006"	"00006"	"2016-05-15 22:17:13"	"00006"	"2016-05-15 22:52:15"	"SEQ;SEQ-NG"	"DNA"	""	""
"0000065201"	"00065058"	"1"	"01588"	"01588"	"2016-05-16 21:41:03"	"00006"	"2016-10-18 13:23:40"	"RT-PCR;SEQ"	"DNA;RNA"	""	""
"0000065202"	"00065059"	"1"	"01588"	"01588"	"2016-05-16 21:47:33"	""	""	"arraySNP"	"DNA;protein"	""	""
"0000065203"	"00065061"	"1"	"01588"	"01588"	"2016-05-16 21:52:25"	""	""	"arraySNP"	"DNA;protein"	""	""
"0000065204"	"00065062"	"1"	"01588"	"01588"	"2016-05-16 21:58:24"	""	""	"arraySNP"	"DNA;protein"	""	""
"0000065205"	"00065063"	"1"	"01588"	"01588"	"2016-05-16 22:01:23"	""	""	"arraySNP"	"DNA;protein"	""	""
"0000065206"	"00065064"	"1"	"01588"	"01588"	"2016-05-16 22:05:06"	""	""	"arraySNP"	"DNA;protein"	""	""
"0000065207"	"00065065"	"1"	"01588"	"01588"	"2016-05-16 22:08:05"	""	""	"arraySNP"	"DNA;protein"	""	""
"0000065210"	"00065068"	"1"	"01588"	"01588"	"2016-05-16 22:22:57"	""	""	"arraySNP"	"DNA;protein"	""	""
"0000065211"	"00065069"	"1"	"01588"	"01588"	"2016-05-16 22:25:17"	""	""	"arraySNP"	"DNA;protein"	""	""
"0000261969"	"00260865"	"1"	"00006"	"00006"	"2019-08-09 10:06:50"	""	""	"SEQ"	"DNA"	""	""
"0000386702"	"00385473"	"1"	"00000"	"03840"	"2021-10-12 17:40:23"	""	""	"SEQ-NG"	"DNA"	"blood"	"114 genes panel tested"
"0000386741"	"00385512"	"1"	"00000"	"03840"	"2021-10-12 17:40:23"	""	""	"SEQ-NG"	"DNA"	"blood"	"144 genes panel tested"
"0000393506"	"00392264"	"1"	"00000"	"03840"	"2021-11-22 09:44:22"	""	""	"SEQ-NG"	"DNA"	"blood"	"targeted next-generation sequencing"
"0000415618"	"00414338"	"1"	"00000"	"03840"	"2022-07-28 13:16:36"	""	""	"SEQ-NG-I"	"DNA"	"blood"	""
"0000415626"	"00414346"	"1"	"00000"	"03840"	"2022-07-28 13:16:36"	""	""	"SEQ-NG-I"	"DNA"	"blood"	""
"0000435482"	"00434019"	"1"	"00006"	"00006"	"2023-03-17 16:18:55"	""	""	"SEQ;SEQ-NG"	"DNA"	""	"WES"
"0000435483"	"00434020"	"1"	"00006"	"00006"	"2023-03-17 16:18:55"	""	""	"SEQ;SEQ-NG"	"DNA"	""	"WES"
"0000435495"	"00434032"	"1"	"00006"	"00006"	"2023-03-17 19:03:16"	""	""	"SEQ;SEQ-NG"	"DNA"	""	"gene panel"
"0000435549"	"00434082"	"1"	"00006"	"00006"	"2023-03-19 16:52:56"	""	""	"SEQ;SEQ-NG"	"DNA"	""	"gene panel"
"0000435564"	"00434097"	"1"	"00006"	"00006"	"2023-03-19 17:10:13"	""	""	"SEQ;SEQ-NG"	"DNA"	""	"gene panel"
"0000435565"	"00434098"	"1"	"00006"	"00006"	"2023-03-19 17:10:13"	""	""	"SEQ;SEQ-NG"	"DNA"	""	"gene panel"
"0000435566"	"00434099"	"1"	"00006"	"00006"	"2023-03-19 17:10:13"	""	""	"SEQ;SEQ-NG"	"DNA"	""	"gene panel"
"0000435567"	"00434100"	"1"	"00006"	"00006"	"2023-03-19 17:10:13"	""	""	"SEQ;SEQ-NG"	"DNA"	""	"gene panel"
"0000435568"	"00434101"	"1"	"00006"	"00006"	"2023-03-19 17:10:13"	""	""	"SEQ;SEQ-NG"	"DNA"	""	"gene panel"
"0000435569"	"00434102"	"1"	"00006"	"00006"	"2023-03-19 17:18:03"	""	""	"SEQ;SEQ-NG"	"DNA"	""	"WES"
"0000435577"	"00434110"	"1"	"00006"	"00006"	"2023-03-20 11:29:18"	""	""	"SEQ"	"DNA"	""	""
"0000435578"	"00434111"	"1"	"00006"	"00006"	"2023-03-20 11:36:15"	""	""	"SEQ"	"DNA"	""	""
"0000435582"	"00434115"	"1"	"00006"	"00006"	"2023-03-20 13:04:03"	""	""	"SEQ"	"DNA"	""	""
"0000435600"	"00434133"	"1"	"00006"	"00006"	"2023-03-20 14:55:46"	""	""	"SEQ;SEQ-NG"	"DNA"	""	"gene panel"
"0000435616"	"00434149"	"1"	"00006"	"00006"	"2023-03-21 08:24:12"	""	""	"SEQ;SEQ-NG"	"DNA"	""	"gene panel"
"0000435617"	"00434150"	"1"	"00006"	"00006"	"2023-03-21 08:43:43"	""	""	"SEQ"	"DNA"	""	""
"0000435618"	"00434151"	"1"	"00006"	"00006"	"2023-03-21 08:43:43"	""	""	"SEQ"	"DNA"	""	""
"0000435619"	"00434152"	"1"	"00006"	"00006"	"2023-03-21 08:57:21"	"00006"	"2023-03-21 09:05:54"	"arraySNP;RT-PCR;SEQ"	"DNA;RNA"	""	""
"0000435650"	"00434182"	"1"	"00006"	"00006"	"2023-03-21 17:22:01"	""	""	"SEQ;SEQ-NG"	"DNA"	""	"gene panel"
"0000435666"	"00434198"	"1"	"00006"	"00006"	"2023-03-21 18:38:38"	""	""	"SEQ;SEQ-NG"	"DNA"	""	"gene panel"
"0000435682"	"00434214"	"1"	"00006"	"00006"	"2023-03-22 17:30:10"	""	""	"SEQ-NG"	"DNA"	""	"WGS"
"0000446567"	"00444998"	"1"	"00006"	"00006"	"2023-12-29 15:44:26"	""	""	"SEQ;SEQ-NG"	"DNA"	""	"WES"
"0000446635"	"00445065"	"1"	"00006"	"00006"	"2024-01-02 15:26:57"	""	""	"SEQ;SEQ-NG"	"DNA"	""	""
"0000446645"	"00445075"	"1"	"00006"	"00006"	"2024-01-02 15:26:57"	""	""	"SEQ;SEQ-NG"	"DNA"	""	""
"0000446703"	"00445133"	"1"	"00006"	"00006"	"2024-01-03 11:39:20"	""	""	"SEQ"	"DNA"	""	"gene panel"
"0000448063"	"00446490"	"1"	"00006"	"00006"	"2024-01-17 16:49:48"	""	""	"SEQ;SEQ-NG"	"DNA"	""	"792 gene panel"
"0000448092"	"00446519"	"1"	"00006"	"00006"	"2024-01-17 16:49:48"	""	""	"SEQ;SEQ-NG"	"DNA"	""	"792 gene panel"


## Screenings_To_Genes ## Do not remove or alter this header ##
## Count = 32
"{{screeningid}}"	"{{geneid}}"
"0000060048"	"HSF4"
"0000060050"	"HSF4"
"0000060051"	"HSF4"
"0000060052"	"HSF4"
"0000060053"	"HSF4"
"0000060198"	"HSF4"
"0000060199"	"HSF4"
"0000060200"	"HSF4"
"0000060201"	"HSF4"
"0000065184"	"HSF4"
"0000065201"	"HSF4"
"0000065202"	"HSF4"
"0000065203"	"HSF4"
"0000065204"	"HSF4"
"0000065205"	"HSF4"
"0000065206"	"HSF4"
"0000065207"	"HSF4"
"0000065210"	"HSF4"
"0000065211"	"HSF4"
"0000261969"	"HSF4"
"0000386702"	"HSF4"
"0000386741"	"HSF4"
"0000393506"	"HSF4"
"0000415618"	"HSF4"
"0000415626"	"HSF4"
"0000435577"	"HSF4"
"0000435578"	"HSF4"
"0000435582"	"HSF4"
"0000435617"	"HSF4"
"0000435618"	"HSF4"
"0000435619"	"HSF4"
"0000446703"	"HSF4"


## 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 = 67
"{{id}}"	"{{allele}}"	"{{effectid}}"	"{{chromosome}}"	"{{position_g_start}}"	"{{position_g_end}}"	"{{type}}"	"{{average_frequency}}"	"{{owned_by}}"	"{{VariantOnGenome/DBID}}"	"{{VariantOnGenome/DNA}}"	"{{VariantOnGenome/Frequency}}"	"{{VariantOnGenome/Reference}}"	"{{VariantOnGenome/Restriction_site}}"	"{{VariantOnGenome/Published_as}}"	"{{VariantOnGenome/Remarks}}"	"{{VariantOnGenome/Genetic_origin}}"	"{{VariantOnGenome/Segregation}}"	"{{VariantOnGenome/dbSNP}}"	"{{VariantOnGenome/VIP}}"	"{{VariantOnGenome/Methylation}}"	"{{VariantOnGenome/ISCN}}"	"{{VariantOnGenome/DNA/hg38}}"	"{{VariantOnGenome/ClinVar}}"	"{{VariantOnGenome/ClinicalClassification}}"	"{{VariantOnGenome/ClinicalClassification/Method}}"
"0000090837"	"11"	"90"	"16"	"67199519"	"67199519"	"subst"	"0"	"00227"	"HSF4_000001"	"g.67199519G>T"	""	""	""	""	""	"Germline"	""	""	"0"	""	""	"g.67165616G>T"	""	"pathogenic"	""
"0000090839"	"0"	"90"	"16"	"67198770"	"67198770"	"subst"	"0"	"00006"	"HSF4_000002"	"g.67198770C>A"	""	"{PMID:Bu 2002:12089525}, {OMIM602438:0003}"	""	""	""	"De novo"	"-"	""	"0"	""	""	"g.67164867C>A"	""	"likely pathogenic (dominant)"	""
"0000090840"	"11"	"90"	"16"	"67199645"	"67199645"	"subst"	"0"	"00006"	"HSF4_000003"	"g.67199645A>G"	""	"{PMID:Bu 2002:12089525}, {OMIM602438:0004}"	""	""	""	"Germline"	""	""	"0"	""	""	"g.67165742A>G"	""	"pathogenic"	""
"0000090841"	"1"	"90"	"16"	"67199730"	"67199730"	"subst"	"0"	"00006"	"HSF4_000004"	"g.67199730T>C"	""	"{PMID:Bu 2002:12089525}, {DOI:Bu 2002:10.1038/ng921}, {OMIM602438:0001}"	""	"348C>T (Leu115Pro)"	""	"Germline"	"yes"	""	"0"	""	""	"g.67165827T>C"	""	"pathogenic"	""
"0000090842"	"1"	"90"	"16"	"67199744"	"67199744"	"subst"	"0"	"00006"	"HSF4_000005"	"g.67199744C>T"	""	"{PMID:Bu 2002:12089525}, {PMID:Kessel 2021:34169787}"	""	"362C>T"	""	"Germline"	"yes"	""	"0"	""	""	"g.67165841C>T"	""	"pathogenic (dominant)"	""
"0000091172"	"1"	"90"	"16"	"67199703"	"67199703"	"subst"	"0"	"00227"	"HSF4_000011"	"g.67199703G>C"	""	""	""	""	""	"Germline"	""	""	"0"	""	""	"g.67165800G>C"	""	"pathogenic"	""
"0000091173"	"1"	"90"	"16"	"67199622"	"67199622"	"subst"	"0"	"00227"	"HSF4_000012"	"g.67199622A>G"	""	""	""	""	""	"Germline"	""	""	"0"	""	""	"g.67165719A>G"	""	"pathogenic"	""
"0000091174"	"1"	"90"	"16"	"67199488"	"67199488"	"subst"	"0"	"00227"	"HSF4_000013"	"g.67199488T>C"	""	""	""	""	""	"Germline"	""	""	"0"	""	""	"g.67165585T>C"	""	"pathogenic"	""
"0000091175"	"1"	"90"	"16"	"67199621"	"67199621"	"subst"	"0"	"00227"	"HSF4_000014"	"g.67199621G>A"	""	""	""	"IVS5-1G>A"	""	"Germline"	""	""	"0"	""	""	"g.67165718G>A"	""	"pathogenic"	""
"0000096840"	"1"	"70"	"16"	"67198817"	"67198817"	"subst"	"8.98884E-6"	"00006"	"HSF4_000020"	"g.67198817C>T"	""	"{PMID:Gillespie 2014:25148791}, {DOI:Gillespie 2014:10.1016/j.ophtha.2014.06.006}"	""	""	""	"Germline"	""	""	"0"	""	""	"g.67164914C>T"	""	"likely pathogenic"	""
"0000096863"	"3"	"90"	"16"	"67203255"	"67203255"	"subst"	"8.26078E-6"	"01588"	"HSF4_000017"	"g.67203255A>G"	""	"{PMID:Smaoui 2004:15277496}"	""	"1327+4A>G (Met419GlyfsX29)"	""	"Germline"	"yes"	""	"0"	""	""	"g.67169352A>G"	""	"pathogenic"	""
"0000096864"	"3"	"70"	"16"	"67200261"	"67200261"	"subst"	"0"	"01588"	"HSF4_000009"	"g.67200261G>C"	""	"{PMID:Forshew 2005:15959809}"	""	""	""	"Germline"	"yes"	""	"0"	""	""	"g.67166358G>C"	""	"likely pathogenic"	""
"0000096865"	"3"	"70"	"16"	"67200495"	"67200499"	"del"	"0"	"01588"	"HSF4_000015"	"g.67200495_67200499del"	""	"{PMID:Forshew 2005:15959809}"	""	"595_599delGGGCC"	""	"Germline"	"yes"	""	"0"	""	""	"g.67166592_67166596del"	""	"likely pathogenic"	""
"0000096866"	"0"	"70"	"16"	"67199519"	"67199519"	"subst"	"0"	"01588"	"HSF4_000007"	"g.67199519G>A"	""	"{PMID:Ke 2006:16876512}"	""	"221G>A (Arg74His)"	""	"Germline"	"?"	""	"0"	""	""	"g.67165616G>A"	""	"likely pathogenic"	""
"0000096867"	"3"	"90"	"16"	"67202963"	"67202963"	"subst"	"4.07007E-6"	"01588"	"HSF4_000016"	"g.67202963C>T"	""	"{PMID:Sajjad 2008:19014451}"	""	""	""	"Germline"	"yes"	""	"0"	""	""	"g.67169060C>T"	""	"pathogenic (recessive)"	""
"0000096868"	"0"	"70"	"16"	"67199483"	"67199483"	"subst"	"0"	"01588"	"HSF4_000006"	"g.67199483A>G"	""	"{PMID:Shi 2008:18941546}"	""	"1078A>G"	""	"Germline"	""	""	"0"	""	""	"g.67165580A>G"	""	"likely pathogenic"	""
"0000096869"	"0"	"70"	"16"	"67199736"	"67199736"	"subst"	"0.000331301"	"01588"	"HSF4_000008"	"g.67199736G>A"	""	"{PMID:Shi 2008:18941546}"	""	"1243G>A (Arg116His)"	""	"Germline"	"?"	""	"0"	""	""	"g.67165833G>A"	""	"likely pathogenic"	""
"0000096872"	"0"	"70"	"16"	"67198783"	"67198783"	"subst"	"0"	"01588"	"HSF4_000018"	"g.67198783G>T"	""	"{PMID:Lv 2014:24637349}"	""	""	""	"Germline"	""	""	"0"	""	""	"g.67164880G>T"	""	"likely pathogenic"	""
"0000096873"	"0"	"70"	"16"	"67199717"	"67199717"	"subst"	"0"	"01588"	"HSF4_000019"	"g.67199717C>T"	""	"{PMID:Liu 2015:25877371}"	""	"331C>T (Arg111Cys)"	""	"Germline"	"?"	""	"0"	""	""	"g.67165814C>T"	""	"likely pathogenic"	""
"0000592098"	"3"	"90"	"16"	"67199921"	"67199921"	"subst"	"0"	"00006"	"HSF4_000026"	"g.67199921G>C"	""	"{PMID:Chen 2017:28418495}"	""	""	""	"Germline"	"yes"	""	"0"	""	""	"g.67166018G>C"	""	"pathogenic (recessive)"	""
"0000814382"	"3"	"50"	"16"	"67199967"	"67199967"	"subst"	"0"	"00000"	"HSF4_000029"	"g.67199967T>G"	""	"{PMID:Lenassi 2020:31848469}"	""	"HSF4 c.479T>G p.(Leu160Arg) hom"	"homozygous"	"Germline"	"?"	""	"0"	""	""	"g.67166064T>G"	""	"VUS"	"ACMG"
"0000814421"	"0"	"90"	"16"	"67200240"	"67200240"	"subst"	"0"	"00000"	"HSF4_000030"	"g.67200240G>A"	""	"{PMID:Lenassi 2020:31848469}"	""	"HSF4 c.503G>A p.(Trp168Ter) het HSF4 c.1188+1G>A het"	"heterozygous"	"Germline"	"?"	""	"0"	""	""	"g.67166337G>A"	""	"pathogenic"	"ACMG"
"0000814475"	"0"	"90"	"16"	"67202840"	"67202840"	"subst"	"0"	"00000"	"HSF4_000031"	"g.67202840G>A"	""	"{PMID:Lenassi 2020:31848469}"	""	"HSF4 c.503G>A p.(Trp168Ter) het HSF4 c.1188+1G>A het"	"different transcript: NM_001040667.2(HSF4):c.1188+1G>A; compound heterozygous"	"Germline"	"?"	""	"0"	""	""	"g.67168937G>A"	""	"pathogenic"	"ACMG"
"0000824268"	"11"	"50"	"16"	"67199750"	"67199750"	"subst"	"4.44002E-6"	"00000"	"HSF4_000032"	"g.67199750G>A"	""	"{PMID:Bell 2021:33494148}"	""	"HSF4 c.360+1G>A,  -"	"heterozygous, present in affected father"	"Germline"	"yes"	""	"0"	""	""	"g.67165847G>A"	""	"VUS"	""
"0000864877"	"0"	"30"	"16"	"67201734"	"67201734"	"subst"	"0"	"01943"	"FBXL8_000016"	"g.67201734G>T"	""	""	""	"HSF4(NM_001040667.2):c.966G>T (p.P322=)"	"VKGL data sharing initiative Nederland"	"CLASSIFICATION record"	""	""	""	""	""	""	""	"likely benign"	""
"0000864878"	"0"	"50"	"16"	"67203121"	"67203125"	"del"	"0"	"02327"	"FBXL8_000017"	"g.67203121_67203125del"	""	""	""	""	"VKGL data sharing initiative Nederland"	"CLASSIFICATION record"	""	""	""	""	""	""	""	"VUS"	""
"0000873444"	"0"	"70"	"16"	"67199480"	"67199480"	"subst"	"4.06736E-6"	"00000"	"HSF4_000033"	"g.67199480C>T"	"105"	"{PMID:Sun 2018:30076350}"	""	"HSF4(NM_001040667.2):c.179C>T(p.P60H)"	""	"Germline/De novo (untested)"	"?"	""	"0"	""	""	"g.67165577C>T"	""	"likely pathogenic"	""
"0000873457"	"3"	"70"	"16"	"67200295"	"67200295"	"subst"	"4.24834E-6"	"00000"	"HSF4_000034"	"g.67200295C>T"	"113"	"{PMID:Sun 2018:30076350}"	""	"HSF4(NM_001040667.2):c.558C>T(p.G186G)"	""	"Germline/De novo (untested)"	"?"	""	"0"	""	""	"g.67166392C>T"	""	"likely pathogenic"	""
"0000921491"	"11"	"90"	"16"	"67199730"	"67199730"	"subst"	"0"	"00006"	"HSF4_000039"	"g.67199730T>A"	""	"{PMID:Jiao 2022:36670602}"	""	""	""	"Germline"	""	""	"0"	""	""	"g.67165827T>A"	""	"pathogenic (dominant)"	""
"0000921492"	"11"	"90"	"16"	"67199730"	"67199730"	"subst"	"0"	"00006"	"HSF4_000039"	"g.67199730T>A"	""	"{PMID:Jiao 2022:36670602}"	""	""	""	"Germline"	""	""	"0"	""	""	"g.67165827T>A"	""	"pathogenic (dominant)"	""
"0000921508"	"0"	"90"	"16"	"67197914"	"67197914"	"subst"	"0.000207006"	"00006"	"HSF4_000037"	"g.67197914C>G"	""	"{PMID:Zhai 2017:28450710}"	""	"-497-8C>G"	""	"Germline"	""	""	"0"	""	""	"g.67164011C>G"	""	"pathogenic (dominant)"	""
"0000921567"	"1"	"50"	"16"	"67199480"	"67199480"	"subst"	"0"	"00006"	"HSF4_000038"	"g.67199480C>A"	""	"{PMID:Li 2016:27307692}"	""	""	""	"Germline"	""	""	"0"	""	""	"g.67165577C>A"	""	"VUS"	""
"0000921568"	"1"	"70"	"16"	"67199703"	"67199703"	"subst"	"0"	"00006"	"HSF4_000011"	"g.67199703G>C"	""	"{PMID:Cao 2018:30143024}"	""	""	""	"Germline"	"yes"	""	"0"	""	""	"g.67165800G>C"	""	"likely pathogenic (dominant)"	"ACMG"
"0000921569"	"1"	"70"	"16"	"67199519"	"67199519"	"subst"	"0"	"00006"	"HSF4_000001"	"g.67199519G>T"	""	"{PMID:Cao 2018:30143024}"	""	""	""	"Germline"	"yes"	""	"0"	""	""	"g.67165616G>T"	""	"likely pathogenic (dominant)"	"ACMG"
"0000921570"	"1"	"70"	"16"	"67199622"	"67199622"	"subst"	"0"	"00006"	"HSF4_000012"	"g.67199622A>G"	""	"{PMID:Cao 2018:30143024}"	""	""	""	"Germline"	"yes"	""	"0"	""	""	"g.67165719A>G"	""	"likely pathogenic (dominant)"	"ACMG"
"0000921571"	"1"	"90"	"16"	"67199621"	"67199621"	"subst"	"0"	"00006"	"HSF4_000014"	"g.67199621G>A"	""	"{PMID:Cao 2018:30143024}"	""	""	""	"Germline"	"yes"	""	"0"	""	""	"g.67165718G>A"	""	"pathogenic (dominant)"	"ACMG"
"0000921572"	"1"	"70"	"16"	"67199488"	"67199488"	"subst"	"0"	"00006"	"HSF4_000013"	"g.67199488T>C"	""	"{PMID:Cao 2018:30143024}"	""	""	""	"Germline"	"yes"	""	"0"	""	""	"g.67165585T>C"	""	"likely pathogenic (dominant)"	"ACMG"
"0000921573"	"1"	"90"	"16"	"67199491"	"67199491"	"subst"	"0"	"00006"	"HSF4_000035"	"g.67199491A>G"	""	"{PMID:Berry 2018:29243736}"	""	""	""	"Germline"	"yes"	""	"0"	""	""	"g.67165588A>G"	""	"pathogenic (dominant)"	""
"0000921597"	"21"	"90"	"16"	"67199744"	"67199744"	"subst"	"0"	"00006"	"HSF4_000005"	"g.67199744C>T"	""	"{PMID:Hansen 2009:19182255}"	""	""	""	"Germline"	"yes"	""	"0"	""	""	"g.67165841C>T"	""	"pathogenic (dominant)"	""
"0000921598"	"1"	"70"	"16"	"67199730"	"67199730"	"subst"	"0"	"00006"	"HSF4_000004"	"g.67199730T>C"	""	"{PMID:Hansen 2009:19182255}, {PMID:Kessel 2021:34169787}"	""	""	"ACMG PS3, PS4mod, PM2, PP3"	"Germline"	"yes"	""	"0"	""	""	"g.67165827T>C"	"VCV000007092.1"	"likely pathogenic (dominant)"	"ACMG"
"0000921604"	"0"	"10"	"16"	"67201032"	"67201032"	"subst"	"0.00203069"	"00006"	"FBXL8_000003"	"g.67201032G>T"	"1/34 chromosomes cases CTRCT"	"{PMID:Cao 2018:30143024}"	""	""	"not in 340 control chromosomes"	"Germline"	""	""	"0"	""	""	"g.67167129G>T"	""	"benign"	""
"0000921623"	"0"	"90"	"16"	"67199745"	"67199745"	"subst"	"0"	"00006"	"HSF4_000040"	"g.67199745G>A"	""	"{PMID:Li 2019:31842807}"	""	""	"ACMG PM1 PM2 PP1 PP2 PP3 PP4 BP1"	"Germline"	""	""	"0"	""	""	"g.67165842G>A"	""	"pathogenic (dominant)"	"ACMG"
"0000921769"	"3"	"90"	"16"	"67200258"	"67200258"	"subst"	"0"	"00006"	"HSF4_000036"	"g.67200258T>C"	""	"{PMID:Behnam 2016:26490182}"	""	""	""	"Germline"	""	""	"0"	""	""	"g.67166355T>C"	""	"pathogenic (recessive)"	""
"0000921770"	"3"	"70"	"16"	"67200261"	"67200261"	"subst"	"0"	"00006"	"HSF4_000009"	"g.67200261G>C"	""	"{PMID:Forshew 2005:15959809}"	""	""	""	"Germline"	"yes"	""	"0"	""	""	"g.67166358G>C"	""	"likely pathogenic (recessive)"	""
"0000921771"	"3"	"70"	"16"	"67200495"	"67200499"	"del"	"0"	"00006"	"HSF4_000015"	"g.67200495_67200499del"	""	"{PMID:Forshew 2005:15959809}"	""	"595_599delGGGCC"	""	"Germline"	"yes"	""	"0"	""	""	"g.67166592_67166596del"	""	"likely pathogenic (recessive)"	""
"0000921772"	"3"	"90"	"16"	"67203255"	"67203255"	"subst"	"8.26078E-6"	"00006"	"HSF4_000017"	"g.67203255A>G"	""	"{PMID:Smaoui 2004:15277496}"	""	"1327+4A>G"	""	"Germline"	"yes"	""	"0"	""	""	"g.67169352A>G"	""	"pathogenic (recessive)"	""
"0000921811"	"21"	"70"	"16"	"67200221"	"67200221"	"subst"	"0"	"00006"	"HSF4_000041"	"g.67200221A>G"	""	"{PMID:Fernandez-Alcalde 2021:33923544}"	""	"NM_001040667.2:c.486-2A>G"	""	"Germline"	""	""	"0"	""	""	"g.67166318A>G"	""	"likely pathogenic (recessive)"	""
"0000921815"	"11"	"70"	"16"	"67203232"	"67203232"	"del"	"0"	"00006"	"HSF4_000042"	"g.67203232del"	""	"{PMID:Fernandez-Alcalde 2021:33923544}"	""	"NM_001040667.2:c.1302delG"	""	"Germline"	""	""	"0"	""	""	"g.67169329del"	""	"likely pathogenic (recessive)"	""
"0000921828"	"0"	"90"	"16"	"67203684"	"67203684"	"subst"	"9.44512E-5"	"00006"	"HSF4_000043"	"g.67203684C>T"	""	"{PMID:Zhang 2018:30078984}"	""	"C1475T"	""	"Germline"	""	""	"0"	""	""	"g.67169781C>T"	""	"pathogenic (dominant)"	""
"0000921829"	"0"	"90"	"16"	"67200495"	"67200499"	"del"	"0"	"00006"	"HSF4_000015"	"g.67200495_67200499del"	""	"{PMID:Merath 2013:24045990}"	""	"595_599delGGGCC"	"cDNA expression cloning shows normal protein stability, normal subcellular localization and significantly reduced transactivation potential"	"In vitro (cloned)"	""	""	"0"	""	""	"g.67166592_67166596del"	""	"NA"	""
"0000921830"	"0"	"90"	"16"	"67202963"	"67202963"	"subst"	"4.07007E-6"	"00006"	"HSF4_000016"	"g.67202963C>T"	""	"{PMID:Merath 2013:24045990}"	""	"c.1213C>T"	"cDNA expression cloning shows normal protein stability, normal subcellular localization and significantly reduced transactivation potential"	"In vitro (cloned)"	""	""	"0"	""	""	"g.67169060C>T"	""	"NA"	""
"0000921831"	"0"	"90"	"16"	"67203255"	"67203255"	"subst"	"8.26078E-6"	"00006"	"HSF4_000017"	"g.67203255A>G"	""	"{PMID:Merath 2013:24045990}"	""	"1327+4A>G"	"variant linked to c.1324+4A>G; cDNA expression cloning shows normal protein stability, normal subcellular localization and significantly reduced transactivation potential"	"In vitro (cloned)"	""	""	"0"	""	""	"g.67169352A>G"	""	"NA"	""
"0000921832"	"0"	"90"	"16"	"67200261"	"67200261"	"subst"	"0"	"00006"	"HSF4_000009"	"g.67200261G>C"	""	"{PMID:Enoki 2010:20670914}"	""	"R176P"	"inhibits transcription activation ability of HSF4b due to defective HSE-binding"	"In vitro (cloned)"	""	""	"0"	""	""	"g.67166358G>C"	""	"NA"	""
"0000921833"	"0"	"90"	"16"	"67199519"	"67199519"	"subst"	"0"	"00006"	"HSF4_000007"	"g.67199519G>A"	""	"{PMID:Enoki 2010:20670914}"	""	"R74H"	"does not affect HSF4b trimerization, inhibits transcription activation ability of HSF4b due to defective HSE-binding"	"In vitro (cloned)"	""	""	"0"	""	""	"g.67165616G>A"	""	"NA"	""
"0000921834"	"0"	"90"	"16"	"67198770"	"67198770"	"subst"	"0"	"00006"	"HSF4_000002"	"g.67198770C>A"	""	"{PMID:Enoki 2010:20670914}"	""	"A20D"	"markedly inhibited HSF4b oligomerization, inhibits transcription activation ability of HSF4b due to defective HSE-binding"	"In vitro (cloned)"	""	""	"0"	""	""	"g.67164867C>A"	""	"NA"	""
"0000921835"	"0"	"90"	"16"	"67199730"	"67199730"	"subst"	"0"	"00006"	"HSF4_000004"	"g.67199730T>C"	""	"{PMID:Enoki 2010:20670914}"	""	"L115P"	"markedly inhibited HSF4b oligomerization, inhibits transcription activation ability of HSF4b due to defective HSE-binding"	"In vitro (cloned)"	""	""	"0"	""	""	"g.67165827T>C"	""	"NA"	""
"0000921836"	"0"	"90"	"16"	"67199717"	"67199717"	"subst"	"0"	"00006"	"HSF4_000019"	"g.67199717C>T"	""	"{PMID:Enoki 2010:20670914}"	""	"R120C"	"markedly inhibited HSF4b oligomerization, inhibits transcription activation ability of HSF4b due to defective HSE-binding"	"In vitro (cloned)"	""	""	"0"	""	""	"g.67165814C>T"	""	"NA"	""
"0000921837"	"0"	"30"	"16"	"67199483"	"67199483"	"subst"	"0"	"00006"	"HSF4_000006"	"g.67199483A>G"	""	"{PMID:Enoki 2010:20670914}"	""	"Q62R"	"has marginal effects on lens protein gene expression by HSF4b in lens epithelial cells"	"In vitro (cloned)"	""	""	"0"	""	""	"g.67165580A>G"	""	"NA"	""
"0000921838"	"0"	"30"	"16"	"67199645"	"67199645"	"subst"	"0"	"00006"	"HSF4_000003"	"g.67199645A>G"	""	"{PMID:Enoki 2010:20670914}"	""	"I87V"	"has marginal effects on lens protein gene expression by HSF4b in lens epithelial cells"	"In vitro (cloned)"	""	""	"0"	""	""	"g.67165742A>G"	""	"NA"	""
"0000921839"	"0"	"30"	"16"	"67199736"	"67199736"	"subst"	"0.000331301"	"00006"	"HSF4_000008"	"g.67199736G>A"	""	"{PMID:Enoki 2010:20670914}"	""	"R117H"	"has marginal effects on lens protein gene expression by HSF4b in lens epithelial cells"	"In vitro (cloned)"	""	""	"0"	""	""	"g.67165833G>A"	""	"NA"	""
"0000921855"	"0"	"90"	"16"	"67199750"	"67199750"	"subst"	"4.44002E-6"	"00006"	"HSF4_000032"	"g.67199750G>A"	""	"{PMID:Jackson 2020:32830442}"	""	""	""	"Germline"	""	""	"0"	""	""	"g.67165847G>A"	""	"pathogenic (dominant)"	""
"0000954910"	"1"	"50"	"16"	"67201032"	"67201032"	"subst"	"0.00203069"	"00006"	"FBXL8_000003"	"g.67201032G>T"	""	"{PMID:Reis 2013:23508780}"	""	""	""	"Germline"	"no"	""	"0"	""	""	"g.67167129G>T"	""	"VUS"	""
"0000954988"	"1"	"50"	"16"	"67199745"	"67199745"	"subst"	"0"	"00006"	"HSF4_000046"	"g.67199745G>T"	""	"{PMID:Kessel 2021:34169787}"	""	""	"VUS PM2, PM5, PP3"	"Germline"	""	""	"0"	""	""	"g.67165842G>T"	""	"VUS"	""
"0000954998"	"1"	"50"	"16"	"67199494"	"67199494"	"subst"	"0"	"00006"	"HSF4_000045"	"g.67199494C>T"	""	"{PMID:Kessel 2021:34169787}"	""	""	"VUS PM2, PP3"	"Germline"	""	""	"0"	""	""	"g.67165591C>T"	""	"VUS"	""
"0000955061"	"21"	"30"	"16"	"67198846"	"67198846"	"subst"	"0.0219938"	"00006"	"HSF4_000044"	"g.67198846C>T"	""	"{PMID:Santhiya 2010:21031021}"	"-HaeIII"	"IVS1+9C>T"	"variant in 6/96 controls Germany"	"Germline"	"no"	""	"0"	""	""	"g.67164943C>T"	""	"likely benign"	""
"0000957443"	"0"	"70"	"16"	"67199703"	"67199703"	"subst"	"0"	"00006"	"HSF4_000011"	"g.67199703G>C"	""	"{PMID:Liu 2023:37337769}"	""	""	""	"Germline"	""	""	"0"	""	""	"g.67165800G>C"	""	"likely pathogenic (dominant)"	""
"0000957472"	"0"	"70"	"16"	"67198802"	"67198802"	"dup"	"0"	"00006"	"HSF4_000047"	"g.67198802dup"	""	"{PMID:Liu 2023:37337769}"	""	"83_84insG"	""	"Germline"	""	""	"0"	""	""	"g.67164899dup"	""	"likely pathogenic (dominant)"	""


## 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 HSF4
## Count = 67
"{{id}}"	"{{transcriptid}}"	"{{effectid}}"	"{{position_c_start}}"	"{{position_c_start_intron}}"	"{{position_c_end}}"	"{{position_c_end_intron}}"	"{{VariantOnTranscript/DNA}}"	"{{VariantOnTranscript/RNA}}"	"{{VariantOnTranscript/Protein}}"	"{{VariantOnTranscript/Exon}}"
"0000090837"	"00025822"	"90"	"218"	"0"	"218"	"0"	"c.218G>T"	"r.(?)"	"p.(Arg73Leu)"	"4"
"0000090839"	"00025822"	"90"	"56"	"0"	"56"	"0"	"c.56C>A"	"r.(?)"	"p.(Ala19Asp)"	"3"
"0000090840"	"00025822"	"90"	"256"	"0"	"256"	"0"	"c.256A>G"	"r.(?)"	"p.(Ile86Val)"	"5"
"0000090841"	"00025822"	"90"	"341"	"0"	"341"	"0"	"c.341T>C"	"r.(?)"	"p.(Leu114Pro)"	"5"
"0000090842"	"00025822"	"90"	"355"	"0"	"355"	"0"	"c.355C>T"	"r.(?)"	"p.(Arg119Cys)"	"5"
"0000091172"	"00025822"	"90"	"314"	"0"	"314"	"0"	"c.314G>C"	"r.(?)"	"p.(Ser105Thr)"	"5"
"0000091173"	"00025822"	"90"	"233"	"0"	"233"	"0"	"c.233A>G"	"r.(?)"	"p.(Tyr78Cys)"	"5"
"0000091174"	"00025822"	"90"	"187"	"0"	"187"	"0"	"c.187T>C"	"r.(?)"	"p.(Phe63Leu)"	"4"
"0000091175"	"00025822"	"90"	"233"	"-1"	"233"	"-1"	"c.233-1G>A"	"r.(?)"	"p.?"	"4i"
"0000096840"	"00025822"	"70"	"103"	"0"	"103"	"0"	"c.103C>T"	"r.(?)"	"p.(His35Tyr)"	"3"
"0000096863"	"00025822"	"90"	"1324"	"4"	"1324"	"4"	"c.1324+4A>G"	"r.(?)"	"p.?"	"14i"
"0000096864"	"00025822"	"70"	"524"	"0"	"524"	"0"	"c.524G>C"	"r.(?)"	"p.(Arg175Pro)"	"7"
"0000096865"	"00025822"	"70"	"596"	"0"	"600"	"0"	"c.596_600del"	"r.(?)"	"p.(Gly199GlufsTer15)"	"8"
"0000096866"	"00025822"	"70"	"218"	"0"	"218"	"0"	"c.218G>A"	"r.(?)"	"p.(Arg73His)"	""
"0000096867"	"00025822"	"90"	"1213"	"0"	"1213"	"0"	"c.1213C>T"	"r.(?)"	"p.(Arg405Ter)"	"13"
"0000096868"	"00025822"	"70"	"182"	"0"	"182"	"0"	"c.182A>G"	"r.(?)"	"p.(Gln61Arg)"	""
"0000096869"	"00025822"	"70"	"347"	"0"	"347"	"0"	"c.347G>A"	"r.(?)"	"p.(Arg116His)"	""
"0000096872"	"00025822"	"70"	"69"	"0"	"69"	"0"	"c.69G>T"	"r.(?)"	"p.(Lys23Asn)"	"3"
"0000096873"	"00025822"	"70"	"328"	"0"	"328"	"0"	"c.328C>T"	"r.(?)"	"p.(Arg110Cys)"	"4"
"0000592098"	"00025822"	"90"	"433"	"0"	"433"	"0"	"c.433G>C"	"r.(?)"	"p.(Ala145Pro)"	""
"0000814382"	"00025822"	"50"	"479"	"0"	"479"	"0"	"c.479T>G"	"r.(?)"	"p.(Leu160Arg)"	""
"0000814421"	"00025822"	"90"	"503"	"0"	"503"	"0"	"c.503G>A"	"r.(?)"	"p.(Trp168Ter)"	""
"0000814475"	"00025822"	"90"	"1188"	"1"	"1188"	"1"	"c.1188+1G>A"	"r.(?)"	"p.?"	""
"0000824268"	"00025822"	"50"	"360"	"1"	"360"	"1"	"c.360+1G>A"	"r.(?)"	"p.?"	""
"0000864877"	"00025822"	"30"	"966"	"0"	"966"	"0"	"c.966G>T"	"r.(?)"	"p.(Pro322=)"	""
"0000864878"	"00025822"	"50"	"1255"	"-61"	"1255"	"-57"	"c.1255-61_1255-57del"	"r.(=)"	"p.(=)"	""
"0000873444"	"00025822"	"70"	"179"	"0"	"179"	"0"	"c.179C>T"	"r.(?)"	"p.(Pro60Leu)"	""
"0000873457"	"00025822"	"70"	"558"	"0"	"558"	"0"	"c.558C>T"	"r.(?)"	"p.(Gly186=)"	""
"0000921491"	"00025822"	"90"	"341"	"0"	"341"	"0"	"c.341T>A"	"r.(?)"	"p.(Leu114Gln)"	""
"0000921492"	"00025822"	"90"	"341"	"0"	"341"	"0"	"c.341T>A"	"r.(?)"	"p.(Leu114Gln)"	""
"0000921508"	"00025822"	"90"	"0"	"0"	"0"	"0"	"c.?"	"r.spl?"	"p.?"	""
"0000921567"	"00025822"	"50"	"179"	"0"	"179"	"0"	"c.179C>A"	"r.(?)"	"p.(Pro60His)"	""
"0000921568"	"00025822"	"70"	"314"	"0"	"314"	"0"	"c.314G>C"	"r.(?)"	"p.(Ser105Thr)"	""
"0000921569"	"00025822"	"70"	"218"	"0"	"218"	"0"	"c.218G>T"	"r.(?)"	"p.(Arg73Leu)"	""
"0000921570"	"00025822"	"70"	"233"	"0"	"233"	"0"	"c.233A>G"	"r.(?)"	"p.(Tyr78Cys)"	""
"0000921571"	"00025822"	"90"	"233"	"-1"	"233"	"-1"	"c.233-1G>A"	"r.spl"	"p.?"	""
"0000921572"	"00025822"	"70"	"187"	"0"	"187"	"0"	"c.187T>C"	"r.(?)"	"p.(Phe63Leu)"	""
"0000921573"	"00025822"	"90"	"190"	"0"	"190"	"0"	"c.190A>G"	"r.(?)"	"p.(Lys64Glu)"	""
"0000921597"	"00025822"	"90"	"355"	"0"	"355"	"0"	"c.355C>T"	"r.(?)"	"p.(Arg119Cys)"	""
"0000921598"	"00025822"	"70"	"341"	"0"	"341"	"0"	"c.341T>C"	"r.(?)"	"p.(Leu114Pro)"	""
"0000921604"	"00025822"	"10"	"636"	"0"	"636"	"0"	"c.636G>T"	"r.(?)"	"p.(Met212Ile)"	"7"
"0000921623"	"00025822"	"90"	"356"	"0"	"356"	"0"	"c.356G>A"	"r.(?)"	"p.(Arg119His)"	""
"0000921769"	"00025822"	"90"	"521"	"0"	"521"	"0"	"c.521T>C"	"r.(?)"	"p.(Leu174Pro)"	""
"0000921770"	"00025822"	"70"	"524"	"0"	"524"	"0"	"c.524G>C"	"r.(?)"	"p.(Arg175Pro)"	""
"0000921771"	"00025822"	"70"	"596"	"0"	"600"	"0"	"c.596_600del"	"r.(?)"	"p.(Gly199GlufsTer15)"	""
"0000921772"	"00025822"	"90"	"1324"	"4"	"1324"	"4"	"c.1324+4A>G"	"r.1255_1324del"	"p.Met419GlufsTer29"	"14i"
"0000921811"	"00025822"	"70"	"486"	"-2"	"486"	"-2"	"c.486-2A>G"	"r.spl"	"p.?"	""
"0000921815"	"00025822"	"70"	"1305"	"0"	"1305"	"0"	"c.1305del"	"r.(?)"	"p.(Leu436Ter)"	""
"0000921828"	"00025822"	"90"	"1475"	"0"	"1475"	"0"	"c.1475C>T"	"r.(?)"	"p.(Pro492Leu)"	""
"0000921829"	"00025822"	"90"	"596"	"0"	"600"	"0"	"c.596_600del"	"-"	"p.Gly199GlufsTer15"	""
"0000921830"	"00025822"	"90"	"1213"	"0"	"1213"	"0"	"c.1213C>T"	"-"	"p.Arg405Ter"	""
"0000921831"	"00025822"	"90"	"1255"	"0"	"1324"	"0"	"c.1255_1324del"	"-"	"p.Met419GlufsTer29"	""
"0000921832"	"00025822"	"90"	"524"	"0"	"524"	"0"	"c.524G>C"	"-"	"p.Arg175Pro"	""
"0000921833"	"00025822"	"90"	"218"	"0"	"218"	"0"	"c.218G>A"	"-"	"p.Arg73His"	""
"0000921834"	"00025822"	"90"	"56"	"0"	"56"	"0"	"c.56C>A"	"-"	"p.Ala19Asp"	""
"0000921835"	"00025822"	"90"	"341"	"0"	"341"	"0"	"c.341T>C"	"-"	"p.Leu114Pro"	""
"0000921836"	"00025822"	"90"	"328"	"0"	"328"	"0"	"c.328C>T"	"-"	"p.Arg110Cys"	""
"0000921837"	"00025822"	"30"	"182"	"0"	"182"	"0"	"c.182A>G"	"-"	"p.Gln61Arg"	""
"0000921838"	"00025822"	"30"	"256"	"0"	"256"	"0"	"c.256A>G"	"-"	"p.Ile86Val"	""
"0000921839"	"00025822"	"30"	"347"	"0"	"347"	"0"	"c.347G>A"	"-"	"p.Arg116His"	""
"0000921855"	"00025822"	"90"	"360"	"1"	"360"	"1"	"c.360+1G>A"	"r.spl"	"p.?"	""
"0000954910"	"00025822"	"50"	"636"	"0"	"636"	"0"	"c.636G>T"	"r.(?)"	"p.(Met212Ile)"	""
"0000954988"	"00025822"	"50"	"356"	"0"	"356"	"0"	"c.356G>T"	"r.(?)"	"p.(Arg119Leu)"	""
"0000954998"	"00025822"	"50"	"193"	"0"	"193"	"0"	"c.193C>T"	"r.(?)"	"p.(His65Tyr)"	""
"0000955061"	"00025822"	"30"	"123"	"9"	"123"	"9"	"c.123+9C>T"	"r.(?)"	"p.(=)"	"3i"
"0000957443"	"00025822"	"70"	"314"	"0"	"314"	"0"	"c.314G>C"	"r.(?)"	"p.(Ser105Thr)"	"5"
"0000957472"	"00025822"	"70"	"88"	"0"	"88"	"0"	"c.88dup"	"r.(?)"	"p.(Asp30GlyfsTer37)"	""


## Screenings_To_Variants ## Do not remove or alter this header ##
## Count = 54
"{{screeningid}}"	"{{variantid}}"
"0000060048"	"0000090837"
"0000060050"	"0000090839"
"0000060051"	"0000090840"
"0000060052"	"0000090841"
"0000060053"	"0000090842"
"0000060198"	"0000091172"
"0000060199"	"0000091173"
"0000060200"	"0000091174"
"0000060201"	"0000091175"
"0000065184"	"0000096840"
"0000065201"	"0000096863"
"0000065202"	"0000096864"
"0000065203"	"0000096865"
"0000065204"	"0000096866"
"0000065205"	"0000096867"
"0000065206"	"0000096868"
"0000065207"	"0000096869"
"0000065210"	"0000096872"
"0000065211"	"0000096873"
"0000261969"	"0000592098"
"0000386702"	"0000814382"
"0000386741"	"0000814421"
"0000386741"	"0000814475"
"0000393506"	"0000824268"
"0000415618"	"0000873444"
"0000415626"	"0000873457"
"0000435482"	"0000921491"
"0000435483"	"0000921492"
"0000435495"	"0000921508"
"0000435549"	"0000921567"
"0000435564"	"0000921568"
"0000435565"	"0000921569"
"0000435566"	"0000921570"
"0000435567"	"0000921571"
"0000435568"	"0000921572"
"0000435569"	"0000921573"
"0000435577"	"0000921597"
"0000435578"	"0000921598"
"0000435582"	"0000921604"
"0000435600"	"0000921623"
"0000435616"	"0000921769"
"0000435617"	"0000921770"
"0000435618"	"0000921771"
"0000435619"	"0000921772"
"0000435650"	"0000921811"
"0000435650"	"0000921815"
"0000435666"	"0000921828"
"0000435682"	"0000921855"
"0000446567"	"0000954910"
"0000446635"	"0000954988"
"0000446645"	"0000954998"
"0000446703"	"0000955061"
"0000448063"	"0000957443"
"0000448092"	"0000957472"