### LOVD-version 3000-30b ### Full data download ### To import, do not remove or alter this header ###
## Filter: (gene_public = TSPAN12)
# 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}}"
"TSPAN12"	"tetraspanin 12"	"7"	"q31.31"	"unknown"	"NG_023203.1"	"UD_132084558334"	""	"https://www.LOVD.nl/TSPAN12"	""	"1"	"21641"	"23554"	"613138"	"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/TSPAN12_codingDNA.html"	"1"	""	"<font color=\"#FF0000\">This database is one of the <b>\"Eye disease\"</b> gene variant databases.</font>"	"-1"	""	"-1"	"00001"	"2012-07-16 00:00:00"	"00006"	"2019-09-24 22:12:49"	"00000"	"2025-02-07 18:57:27"


## 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}}"
"00021965"	"TSPAN12"	"tetraspanin 12"	"001"	"NM_012338.3"	""	"NP_036470.1"	""	""	""	"-374"	"2190"	"918"	"120498177"	"120427374"	""	"0000-00-00 00:00:00"	""	""


## Diseases ## Do not remove or alter this header ##
## Count = 9
"{{id}}"	"{{symbol}}"	"{{name}}"	"{{inheritance}}"	"{{id_omim}}"	"{{tissues}}"	"{{features}}"	"{{remarks}}"	"{{created_by}}"	"{{created_date}}"	"{{edited_by}}"	"{{edited_date}}"
"00000"	"Healthy/Control"	"Healthy individual / control"	""	""	""	""	""	"00000"	"2012-07-26 17:29:43"	""	""
"00116"	"ND"	"Norrie disease"	"XLR"	"310600"	""	""	""	"00001"	"2013-03-13 14:01:08"	"00006"	"2022-12-31 11:13:32"
"00128"	"CF"	"cystic fibrosis (CF)"	"AR"	"219700"	""	""	""	"00006"	"2013-05-14 09:22:43"	"00006"	"2021-12-10 21:51:32"
"00296"	"CTRCT"	"cataract (CTRCT)"	""	""	""	""	""	"00006"	"2014-01-16 08:42:13"	"00006"	"2015-03-07 14:30:33"
"03306"	"EVR5"	"vitreoretinopathy, exudative, type 5 (EVR5)"	"AD"	"613310"	""	""	""	"00006"	"2014-09-25 23:29:40"	"00006"	"2021-04-30 09:59:41"
"04214"	"-"	"retinal disease"	""	""	""	""	""	"00006"	"2015-02-27 19:48:07"	"00001"	"2023-03-09 14:26:26"
"04240"	"EVR;FEVR"	"vitreoretinopathy, exudative (EVR; familial FVER))"	""	""	""	""	""	"00006"	"2015-04-10 12:38:11"	"00006"	"2019-07-31 13:55:30"
"04367"	"PHPVAR"	"vitreous, primary, hyperplastic, persistent, autosomal recessive (PHPVAR)"	"AR"	"221900"	""	""	""	"00000"	"2015-09-23 10:25:22"	"00006"	"2021-12-10 21:51:32"
"05301"	"ROP"	"retinopathy of prematurity (ROP)"	""	""	""	""	""	"00006"	"2017-07-06 15:07:07"	""	""


## Genes_To_Diseases ## Do not remove or alter this header ##
## Count = 2
"{{geneid}}"	"{{diseaseid}}"
"TSPAN12"	"03306"
"TSPAN12"	"04240"


## Individuals ## Do not remove or alter this header ##
## Count = 144
"{{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}}"
"00155557"	""	""	""	"4"	""	"01243"	"{PMID:Beryozkin 2015:26306921}, {PMID:Sharon 2019:31456290}"	"family"	"F"	"yes"	"Israel"	""	"0"	""	""	"Beduin"	"MOL0513"
"00265356"	""	""	""	"5"	""	"03383"	"{PMID:Kondo 2011:21334594}"	"3 generation family, 5 affected"	"F"	"no"	"Japan"	""	"0"	""	""	""	"Family 1 III:1"
"00265370"	""	""	"00265356"	"1"	""	"03383"	"{PMID:Kondo 2011:21334594}"	"PatII1"	"F"	"no"	"Japan"	""	"0"	""	""	""	"Family1PatII1"
"00265371"	""	""	"00265356"	"1"	""	"03383"	"{PMID:Kondo 2011:21334594}"	"PatIII2"	"M"	"no"	"Japan"	""	"0"	""	""	""	"Family1PatIII2"
"00265372"	""	""	""	"1"	""	"03383"	"{PMID:Kondo 2011:21334594}"	"2 generation family, 1 affected, isolated"	"M"	"no"	"Japan"	""	"0"	""	"vitrectomy"	""	"Family3PatII1"
"00265640"	""	""	""	"2"	""	"03383"	"{PMID:Kondo 2011:21334594}"	"2 generation family, 2 affected (father/daughter)"	"F"	"no"	"Japan"	""	"0"	""	"vitrectomy"	""	"Fam4PatII1"
"00269766"	""	""	""	"1"	""	"03383"	"{PMID:Nikopoulos 2010a:20159111}"	"3 generation family, 1 affected"	"F"	"no"	"Netherlands"	""	"0"	""	""	""	"FamCPatII2"
"00271180"	""	""	""	"4"	""	"03383"	"{PMID:Nikopoulos 2010:20159111}"	"3-generation family, 4 affected"	"F"	"no"	"Netherlands"	""	"0"	""	""	""	"FamDPatIII2"
"00271181"	""	""	""	"7"	""	"03383"	"{PMID:Nikopoulos 2010:20159111}"	"4 generation family, 7 affected, 1 unknown clinical significance (3F, 4M)"	"M"	"no"	"Netherlands"	""	"0"	""	""	""	"FamAPatIII7"
"00271182"	""	""	""	"10"	""	"03383"	"{PMID:Nikopoulos 2010:20159111}"	"4 generation family, 10 affected (6F, 4M), one healthy with mutation)"	"F"	"no"	"Netherlands"	"?"	"0"	""	""	""	"FamBPatII5"
"00271183"	""	""	""	"3"	""	"03383"	"{PMID:Nikopoulos 2010:20159111}"	"2 generation family, 3 affected"	"M"	"no"	"Netherlands"	""	"0"	""	""	""	"FamEPatII1"
"00271310"	""	""	""	"2"	""	"03383"	"{PMID:Poulter 2010:20159112}"	"3 generation family, 1 affected (1 unusual fundus appearance), 1 carrier"	"F"	"no"	"Australia"	""	"0"	""	""	""	"Family 1 III:2"
"00271312"	""	""	"00271310"	"1"	""	"03383"	"{PMID:Poulter 2010:20159112}"	"3 generation family, 1 affected, II:2 with unusual fundus appearance"	"M"	"no"	"Australia"	""	"0"	""	""	""	"Family 1 II:2"
"00271313"	""	""	""	"2"	""	"03383"	"{PMID:Poulter 2010:20159112}"	"proband, 2 generation family, 2 affected"	"F"	"no"	"Japan"	""	"0"	""	""	""	"Family 2 II:3"
"00271314"	""	""	""	"1"	""	"03383"	"{PMID:Poulter 2010:20159112}"	"Isolated patient (no reported eye problems in family)"	"F"	"?"	"United States"	""	"0"	""	""	""	"Individual Patient 1"
"00271315"	""	""	""	"1"	""	"03383"	"{PMID:Poulter 2010:20159112}"	"Isolated individual"	"F"	"?"	"United Kingdom (Great Britain)"	""	"0"	""	""	""	"Individual Patient 2"
"00271316"	""	""	""	"2"	""	"03383"	"{PMID:Poulter 2010:20159112}"	"3 generation family, 2 affected"	"F"	"no"	"United States"	""	"0"	""	""	"European"	"Family 3 III:1"
"00271317"	""	""	""	"2"	""	"03383"	"{PMID:Poulter 2010:20159112}"	"2 generation family, 2 affected"	"M"	"no"	"United Kingdom (Great Britain)"	""	"0"	""	""	""	"Family 4 II:1"
"00271318"	""	""	""	"1"	""	"03383"	"{PMID:Poulter 2010:20159112}"	"No reported family history of disease"	"M"	"?"	"Australia"	""	"0"	""	""	""	"Individual Patient 3"
"00271319"	""	""	""	"9"	""	"03383"	"{PMID:Poulter 2012:22427576}"	"5 generation family, 3 severely affected, 9 mildly affected, 2 phenocopy"	"F"	"no"	"Mexico"	""	"0"	""	""	""	"HMH IV:2"
"00271320"	""	""	"00271319"	"3"	""	"03383"	"{PMID:Poulter 2012:22427576}"	"5 generation family, 3 severely affected, 2 mildly affected, 2 phenocopy"	"M"	"?"	"Mexico"	""	"0"	""	""	""	"HMH V:7"
"00271321"	""	""	""	"1"	""	"03383"	"{PMID:Poulter 2012:22427576} {PMID:Savarese 2014:23834558}"	"4 generation family, 1 affected"	"F"	"yes"	"Pakistan"	""	"0"	""	""	""	"VL IV:1"
"00271322"	""	""	""	"4"	""	"03383"	"{PMID:Poulter 2012:22427576}"	"4 generation family, 1 severely affected, 3 mildly affected"	"F"	"yes"	"India"	""	"0"	""	""	""	"TM IV:1"
"00271323"	""	""	"00271322"	"1"	""	"03383"	"{PMID:Poulter 2012:22427576}"	"4 generation family, 1 severely affected, 3 mildly affected"	"M"	"no"	"India"	""	"0"	""	""	""	"TM III:9"
"00271324"	""	""	""	"1"	""	"03383"	"{PMID:Poulter 2012:22427576}"	"Sporadic patient"	"F"	"no"	"United Kingdom (Great Britain)"	""	"0"	""	""	"Nigerian"	"Individual 1"
"00271329"	""	""	""	"2"	""	"03383"	"{PMID:Seo 2016:28002565}"	"pedigree not available, at least 2 affected"	"F"	"?"	"Korea, South (Republic)"	""	"0"	""	""	""	"Patient 2"
"00271332"	""	""	""	"1"	""	"03383"	"{PMID:Seo 2016:28002565}"	"pedigree unavailable"	"M"	"?"	"Korea, South (Republic)"	""	"0"	""	""	""	"Patient 4"
"00271334"	""	""	""	"1"	""	"03383"	"{PMID:Yang 2011:21552475}"	"2 generation family, 1 affected"	"M"	"no"	"China"	""	"0"	""	""	""	"Family 1 II:1"
"00271335"	""	""	""	"1"	""	"03383"	"{PMID:Yang 2011:21552475}"	"2 generation family, 1 affected"	"M"	"no"	"China"	""	"0"	""	""	""	"Family 2 II:1"
"00271336"	""	""	""	"1"	""	"03383"	"{PMID:Yang 2011:21552475}"	"2 generation family, 1 affected"	"F"	"no"	"China"	""	"0"	""	""	""	"Family 3 II:1"
"00274333"	""	""	""	"1"	""	"03383"	"{PMID:Xu 2014:25352738}"	"2 generation family, 1 affected"	"F"	"no"	"China"	""	"0"	""	""	""	"A II:1"
"00274334"	""	""	""	"1"	""	"03383"	"{PMID:Xu 2014:25352738}"	"2 generation family, 1 affected"	"F"	"no"	"China"	""	"0"	""	""	""	"B II:1"
"00274335"	""	""	""	"1"	""	"03383"	"{PMID:Xu 2014:25352738}"	"2 generation family, 1 affected"	"M"	"no"	"China"	""	"0"	""	""	""	"C II:1"
"00274336"	""	""	""	"13"	""	"03383"	"{PMID:Gal 2014:25250762}"	"5 generation family, 13 affected"	"M"	"yes"	"(Israel)"	""	"0"	""	""	"Bedouin"	"V-1"
"00274337"	""	""	"00274336"	"12"	""	"03383"	"{PMID:Gal 2014:25250762}"	"5 generation family, 13 affected"	"M"	"yes"	"Israel"	""	"0"	""	""	"Bedouin"	"V-8"
"00274354"	""	""	""	"6"	""	"03383"	"{PMID:Li 2019:31452356}"	"4 generation family, 6 affected (2 severe, 4 mild)"	"M"	"no"	"China"	""	"0"	""	""	""	"IV:1"
"00274359"	""	""	""	"1"	""	"03383"	"{PMID:Zhang 2019:31009104}"	""	"F"	"?"	"China"	""	"0"	""	""	""	"Patient 9"
"00274454"	""	""	""	"2"	""	"03383"	"{PMID:Zhang 2019:31009104}"	"2 cases"	"M"	"?"	"China"	""	"0"	""	""	""	"Pat12/29"
"00287054"	""	""	""	"3"	""	"03561"	"{PMID:Carroll 2019:31755339}"	"family, affected and asymptomatic heterozygous carriers"	"F"	"?"	""	""	"0"	""	"laser-assisted in situ keratomileusis (LASIK)"	"white"	"Fam"
"00287055"	""	""	"00287054"	"1"	""	"03561"	"{PMID:Carroll 2019:31755339}"	"younger sister"	"F"	"?"	""	""	"0"	""	""	"white"	"Fam"
"00287068"	""	""	"00287054"	"1"	""	"03561"	"{PMID:Carroll 2019:31755339}"	"mother"	"F"	""	""	""	"0"	""	""	"white"	"Fam"
"00287069"	""	""	""	"3"	""	"03561"	"{PMID:Yuan 2019:31513438}"	"2-generation family, mother/daughter/son"	"F"	"?"	"China"	""	"0"	""	""	"Chinese"	"Fam1PatI2"
"00287070"	""	""	"00287069"	"1"	""	"03561"	"{PMID:Yuan 2019:31513438}"	"daughter"	"F"	"?"	"China"	""	"0"	""	""	"Chinese"	"Fam1PatII1"
"00287071"	""	""	"00287069"	"2"	""	"03561"	"{PMID:Yuan 2019:31513438}"	"son"	"M"	"?"	"(China)"	""	"0"	""	""	"Chinese"	"Fam1PatII2"
"00287072"	""	""	""	"2"	""	"03561"	"{PMID:Yuan 2019:31513438}"	"2-generation family, affected father/daughter"	"M"	"?"	"China"	""	"0"	""	""	"Chinese"	"Fam2PatI1"
"00287073"	""	""	"00287072"	"1"	""	"03561"	"{PMID:Yuan 2019:31513438}"	"daughter"	"F"	"?"	"China"	""	"0"	""	""	"Chinese"	"Fam2PatII1"
"00287074"	""	""	""	"2"	""	"03561"	"{PMID:Yuan 2019:31513438}"	"2-generation family, affected mother/daughter"	"F"	"?"	"China"	""	"0"	""	""	"Chinese"	"Fam3PatI2"
"00287075"	""	""	"00287074"	"1"	""	"03561"	"{PMID:Yuan 2019:31513438}"	"daughter"	"F"	"?"	"China"	""	"0"	""	""	"Chinese"	"Fam3PatII1"
"00287076"	""	""	""	"3"	""	"03561"	"{PMID:Yuan 2019:31513438}"	"3-generation family, 3 affected (2F, M)"	"F"	"?"	"China"	""	"0"	""	""	"Chinese"	"Fam4PatII2"
"00287077"	""	""	"00287076"	"1"	""	"03561"	"{PMID:Yuan 2019:31513438}"	"brother"	"M"	"?"	"China"	""	"0"	""	""	"Chinese"	"Fam4PatII3"
"00287078"	""	""	"00287076"	"1"	""	"03561"	"{PMID:Yuan 2019:31513438}"	"daughter"	"F"	"?"	"China"	""	"0"	""	""	"Chinese"	"Fam4PatIII1"
"00328045"	""	""	""	"1"	""	"00000"	"{PMID:Carss 2017:28041643}"	""	"F"	""	"United Kingdom (Great Britain)"	""	"0"	""	""	"Europe"	"G001414"
"00328387"	""	""	""	"1"	""	"00000"	"{PMID:Zhou 2018:29453956}"	""	""	""	"China"	""	"0"	""	""	""	"691006"
"00328388"	""	""	""	"1"	""	"00000"	"{PMID:Zhou 2018:29453956}"	""	""	""	"China"	""	"0"	""	""	""	"691013"
"00332303"	""	""	""	"1"	""	"00000"	"{PMID:Tang 2017:29181528}"	""	""	""	"China"	""	"0"	""	""	""	"Fam51"
"00332304"	""	""	""	"1"	""	"00000"	"{PMID:Tang 2017:29181528}"	""	""	""	"China"	""	"0"	""	""	""	"Fam54"
"00332305"	""	""	""	"1"	""	"00000"	"{PMID:Tang 2017:29181528}"	""	""	""	"China"	""	"0"	""	""	""	"Fam50"
"00332306"	""	""	""	"1"	""	"00000"	"{PMID:Tang 2017:29181528}"	""	""	""	"China"	""	"0"	""	""	""	"Fam45"
"00332307"	""	""	""	"1"	""	"00000"	"{PMID:Tang 2017:29181528}"	""	""	""	"China"	""	"0"	""	""	""	"Fam48"
"00332310"	""	""	""	"1"	""	"00000"	"{PMID:Tang 2017:29181528}"	""	""	""	"China"	""	"0"	""	""	""	"Fam49"
"00332311"	""	""	""	"1"	""	"00000"	"{PMID:Tang 2017:29181528}"	""	""	""	"China"	""	"0"	""	""	""	"Fam20"
"00332312"	""	""	""	"1"	""	"00000"	"{PMID:Tang 2017:29181528}"	""	""	""	"China"	""	"0"	""	""	""	"Fam46"
"00333374"	""	""	""	"4"	""	"00000"	"{PMID:Huang 2017:28867931}"	"2-generation family, 4 affeceted (2F, 2M)"	"F;M"	""	"China"	""	"0"	""	""	""	"Pat2"
"00333376"	""	""	""	"1"	""	"00000"	"{PMID:Huang 2017:28867931}"	""	"F"	""	"China"	""	"0"	""	""	""	"Pat4"
"00333456"	""	""	""	"1"	""	"00000"	"{PMID:Iarossi 2017:28758032}"	"2-generation family, 1 affected, carrier mother"	"M"	""	"Italy"	""	"0"	""	""	""	"Fam6"
"00335198"	""	""	""	"3"	""	"00006"	"{PMID:Schatz 2017:28211206}"	"2-generation family, affected mother, daughter and son"	"F"	""	"Morocco"	""	"0"	""	""	""	"FamPatI2"
"00335200"	""	""	"00335198"	"1"	""	"00006"	"{PMID:Schatz 2017:28211206}"	"son"	"M"	""	"Morocco"	""	"0"	""	""	""	"FamPatII2"
"00335203"	""	""	""	"1"	""	"00000"	"{PMID:Keser 2017:28192794}"	""	""	""	"Pakistan"	""	"0"	""	""	""	"NCRNA9"
"00335212"	""	""	""	"1"	""	"00000"	"{PMID:Keser 2017:28192794}"	""	""	""	"Pakistan"	""	"0"	""	""	""	"NCRNA17"
"00358992"	""	""	""	"1"	""	"00000"	"{PMID:Musada 2016:27316669}"	"see paper"	""	"yes"	"India"	""	"0"	""	""	""	"Fam10"
"00358993"	""	""	""	"1"	""	"00000"	"{PMID:Musada 2016:27316669}"	"see paper"	""	"yes"	"India"	""	"0"	""	""	""	"Fam11"
"00358994"	""	""	""	"1"	""	"00000"	"{PMID:Musada 2016:27316669}"	"see paper"	""	"yes"	"India"	""	"0"	""	""	""	"Fam12"
"00358995"	""	""	""	"1"	""	"00000"	"{PMID:Musada 2016:27316669}"	"see paper"	""	""	"India"	""	"0"	""	""	""	"Fam13"
"00358996"	""	""	""	"1"	""	"00000"	"{PMID:Musada 2016:27316669}"	"see paper"	""	"yes"	"India"	""	"0"	""	""	""	"Fam14"
"00358997"	""	""	""	"1"	""	"00000"	"{PMID:Musada 2016:27316669}"	"see paper"	""	"yes"	"India"	""	"0"	""	""	""	"Fam15"
"00363353"	""	""	""	"1"	""	"00000"	"{PMID:Sun 2015:26747767}"	"proband"	""	""	"China"	""	"0"	""	""	""	"HM674"
"00363836"	""	""	""	"1"	""	"00000"	"{PMID:Seo 2015:26244290}"	""	"M"	""	"Korea"	""	"0"	""	""	""	"Pat18"
"00363840"	""	""	""	"2"	""	"00000"	"{PMID:Seo 2015:26244290}"	"FEVR patients"	""	""	"Korea"	""	"0"	""	""	""	"patient"
"00363841"	""	""	""	"1"	""	"00000"	"{PMID:Seo 2015:26244290}"	"FEVR patients"	""	""	"Korea"	""	"0"	""	""	""	"patient"
"00363842"	""	""	""	"1"	""	"00000"	"{PMID:Seo 2015:26244290}"	"controls"	""	""	"Korea"	""	"0"	""	""	""	"controls"
"00373454"	""	""	""	"1"	""	"00000"	"{PMID:Salvo 2015:25711638}"	"family"	""	""	"United States"	""	"0"	""	""	""	"1400001"
"00373455"	""	""	""	"1"	""	"00000"	"{PMID:Salvo 2015:25711638}"	"family"	""	""	"United States"	""	"0"	""	""	""	"7429001"
"00373456"	""	""	""	"1"	""	"00000"	"{PMID:Salvo 2015:25711638}"	"family"	""	""	"United States"	""	"0"	""	""	""	"16300001"
"00373457"	""	""	""	"1"	""	"00000"	"{PMID:Salvo 2015:25711638}"	"family"	""	""	"United States"	""	"0"	""	""	""	"810006"
"00373458"	""	""	""	"1"	""	"00000"	"{PMID:Salvo 2015:25711638}"	"family"	""	""	"United States"	""	"0"	""	""	""	"16305001"
"00373459"	""	""	""	"1"	""	"00000"	"{PMID:Salvo 2015:25711638}"	"family"	""	""	"United States"	""	"0"	""	""	""	"16307001"
"00373460"	""	""	""	"1"	""	"00000"	"{PMID:Salvo 2015:25711638}"	"family"	""	""	"United States"	""	"0"	""	""	""	"1491001"
"00373462"	""	""	""	"1"	""	"00000"	"{PMID:Salvo 2015:25711638}"	"family"	""	""	"United States"	""	"0"	""	""	""	"13766001"
"00375427"	""	""	""	"1"	""	"00000"	"{PMID:Katagiri 2014:25268133}"	"family"	""	""	"Japan"	""	"0"	""	""	""	"RP#021"
"00379492"	""	""	""	"1"	""	"00000"	"{PMID:Zhou 2011:29453956}"	""	""	""	"China"	""	"0"	""	""	""	""
"00379493"	""	""	""	"1"	""	"00000"	"{PMID:Zhou 2011:29453956}"	""	""	""	"China"	""	"0"	""	""	""	""
"00380755"	""	""	""	"1"	""	"00000"	"{PMID:Li 2018:30097784}"	""	"F"	""	"China"	""	"0"	""	""	""	"8"
"00380756"	""	""	""	"1"	""	"00000"	"{PMID:Li 2018:30097784}"	""	"M"	""	"China"	""	"0"	""	""	""	"9"
"00382141"	""	""	""	"1"	""	"00000"	"{PMID:Patel 2019:30653986}"	""	"?"	""	"United Kingdom (Great Britain)"	""	"0"	""	""	""	"273"
"00383568"	""	""	""	"1"	""	"00000"	"{PMID:Wang 2019:31299183}"	""	""	""	"China"	""	"0"	""	""	""	"?"
"00383569"	""	""	""	"1"	""	"00000"	"{PMID:Wang 2019:31299183}"	""	""	""	"China"	""	"0"	""	""	""	"?"
"00383570"	""	""	""	"1"	""	"00000"	"{PMID:Wang 2019:31299183}"	""	""	""	"China"	""	"0"	""	""	""	"?"
"00383571"	""	""	""	"1"	""	"00000"	"{PMID:Wang 2019:31299183}"	""	""	""	"China"	""	"0"	""	""	""	"?"
"00383572"	""	""	""	"1"	""	"00000"	"{PMID:Wang 2019:31299183}"	""	""	""	"China"	""	"0"	""	""	""	"?"
"00383573"	""	""	""	"1"	""	"00000"	"{PMID:Wang 2019:31299183}"	""	""	""	"China"	""	"0"	""	""	""	"?"
"00383574"	""	""	""	"1"	""	"00000"	"{PMID:Wang 2019:31299183}"	""	""	""	"China"	""	"0"	""	""	""	"?"
"00383575"	""	""	""	"1"	""	"00000"	"{PMID:Wang 2019:31299183}"	""	""	""	"China"	""	"0"	""	""	""	"?"
"00383576"	""	""	""	"1"	""	"00000"	"{PMID:Wang 2019:31299183}"	""	""	""	"China"	""	"0"	""	""	""	"?"
"00383577"	""	""	""	"1"	""	"00000"	"{PMID:Wang 2019:31299183}"	""	""	""	"China"	""	"0"	""	""	""	"?"
"00383578"	""	""	""	"1"	""	"00000"	"{PMID:Wang 2019:31299183}"	""	""	""	"China"	""	"0"	""	""	""	"?"
"00383644"	""	""	""	"2"	""	"00000"	"{PMID:Chen 2019:31237656}"	"proband, family 362, individual II:1"	"M"	"no"	"China"	""	"0"	""	""	""	"362_II:1"
"00383645"	""	""	"00383644"	"1"	""	"00000"	"{PMID:Chen 2019:31237656}"	"father, family 362, individual I:1"	"M"	"no"	"China"	""	"0"	""	""	""	"362_I:1"
"00383646"	""	""	""	"2"	""	"00000"	"{PMID:Chen 2019:31237656}"	"proband, family RD046, individual II:1"	"M"	"no"	"China"	""	"0"	""	""	""	"RD046_II:1"
"00383647"	""	""	"00383646"	"1"	""	"00000"	"{PMID:Chen 2019:31237656}"	"father, family RD046, individual I:1"	"M"	"no"	"China"	""	"0"	""	""	""	"RD046_I:1"
"00383648"	""	""	""	"1"	""	"00000"	"{PMID:Chen 2019:31237656}"	"proband, family 287, individual II:1"	"M"	"no"	"China"	""	"0"	""	""	""	"287_II:1"
"00383729"	""	""	""	"1"	""	"00000"	"{PMID:Tian 2019:31169861}"	""	"?"	""	"China"	""	"0"	""	""	""	"19"
"00383730"	""	""	""	"1"	""	"00000"	"{PMID:Tian 2019:31169861}"	""	"?"	""	"China"	""	"0"	""	""	""	"20"
"00384234"	""	""	""	"1"	""	"00000"	"{PMID:Wang 2019:31106028}"	""	"M"	""	"China"	""	"0"	""	""	""	"12110"
"00384270"	""	""	""	"1"	""	"00000"	"{PMID:Wang 2019:31106028}"	""	"M"	""	"China"	""	"0"	""	""	""	"13323"
"00384284"	""	""	""	"1"	""	"00000"	"{PMID:Wang 2019:31106028}"	""	"M"	""	"China"	""	"0"	""	""	""	"13415"
"00384313"	""	""	""	"1"	""	"00000"	"{PMID:Wang 2019:31106028}"	""	"M"	""	"China"	""	"0"	""	""	""	"13614"
"00384322"	""	""	""	"1"	""	"00000"	"{PMID:Wang 2019:31106028}"	""	"M"	""	"China"	""	"0"	""	""	""	"13675"
"00384328"	""	""	""	"1"	""	"00000"	"{PMID:Wang 2019:31106028}"	""	"F"	""	"China"	""	"0"	""	""	""	"13703"
"00384355"	""	""	""	"1"	""	"00000"	"{PMID:Wang 2019:31106028}"	""	"M"	""	"China"	""	"0"	""	""	""	"13879"
"00384372"	""	""	""	"1"	""	"00000"	"{PMID:Wang 2019:31106028}"	""	"M"	""	"China"	""	"0"	""	""	""	"14039"
"00384396"	""	""	""	"1"	""	"00000"	"{PMID:Wang 2019:31106028}"	""	"F"	""	"China"	""	"0"	""	""	""	"14188"
"00384412"	""	""	""	"1"	""	"00000"	"{PMID:Wang 2019:31106028}"	""	"M"	""	"China"	""	"0"	""	""	""	"14390"
"00384414"	""	""	""	"1"	""	"00000"	"{PMID:Wang 2019:31106028}"	""	"M"	""	"China"	""	"0"	""	""	""	"14394"
"00384432"	""	""	""	"1"	""	"00000"	"{PMID:Wang 2019:31106028}"	""	"M"	""	"China"	""	"0"	""	""	""	"14493"
"00384491"	""	""	""	"1"	""	"00000"	"{PMID:Wang 2019:31106028}"	""	"F"	""	"China"	""	"0"	""	""	""	"14885"
"00384498"	""	""	""	"1"	""	"00000"	"{PMID:Wang 2019:31106028}"	""	"M"	""	"China"	""	"0"	""	""	""	"14932"
"00385812"	""	""	""	"1"	""	"00000"	"{PMID:Chen 2020:31987760}"	""	"?"	""	"China"	""	"0"	""	""	""	"146"
"00385813"	""	""	""	"1"	""	"00000"	"{PMID:Chen 2020:31987760}"	""	"?"	""	"China"	""	"0"	""	""	""	"214"
"00385814"	""	""	""	"1"	""	"00000"	"{PMID:Chen 2020:31987760}"	""	"?"	""	"China"	""	"0"	""	""	""	"239"
"00385815"	""	""	""	"1"	""	"00000"	"{PMID:Chen 2020:31987760}"	""	"?"	""	"China"	""	"0"	""	""	""	"281"
"00385816"	""	""	""	"1"	""	"00000"	"{PMID:Chen 2020:31987760}"	""	"?"	""	"China"	""	"0"	""	""	""	"436"
"00385817"	""	""	""	"1"	""	"00000"	"{PMID:Chen 2020:31987760}"	""	"?"	""	"China"	""	"0"	""	""	""	"439"
"00385818"	""	""	""	"1"	""	"00000"	"{PMID:Chen 2020:31987760}"	""	"?"	""	"China"	""	"0"	""	""	""	"457"
"00385819"	""	""	""	"1"	""	"00000"	"{PMID:Chen 2020:31987760}"	""	"?"	""	"China"	""	"0"	""	""	""	"RD035"
"00388058"	""	""	""	"1"	""	"00000"	"{PMID:Rao 2017:28494495}"	""	"F"	""	"China"	""	"0"	""	""	""	"F15"
"00388246"	""	""	""	"1"	""	"00000"	"{PMID:Wang 2021:32238352}"	"proband, family 6, only family numbers mentioned in the paper"	"M"	""	"China"	""	"0"	""	""	""	"6"
"00388247"	""	""	""	"1"	""	"00000"	"{PMID:Wang 2021:32238352}"	"mother of 6.1, only family numbers mentioned in the paper"	"F"	""	"China"	""	"0"	""	""	""	"6"
"00390410"	""	""	""	"1"	""	"00000"	"{PMID:Turro 2020:32581362}"	"only individuals with mutations in retinal disease genes from this publication were inserted into LOVD"	"?"	""	"(United Kingdom (Great Britain))"	""	"0"	""	""	""	"G001414"
"00391800"	""	""	""	"1"	""	"00000"	"{PMID:Li 2020:32884843}"	""	"M"	""	""	""	"0"	""	""	""	"9"
"00393716"	""	""	""	"1"	""	"00000"	"{PMID:Liu-2020:33090715}"	""	"F"	""	""	""	"0"	""	""	""	""
"00413760"	""	""	""	"1"	""	"00000"	"{PMID:Chan 2016:27639845}"	""	"M"	""	""	""	"0"	""	""	""	"Case 2"
"00417192"	""	""	""	"1"	""	"00006"	"{PMID:Miller 2015:25828824}"	""	"F"	""	"United States"	""	"0"	""	""	""	"patient"
"00417193"	""	""	""	"1"	""	"00006"	"{PMID:Amorelli 2019:31431934}"	""	"M"	""	"Italy"	""	"0"	""	""	""	"patient"
"00444884"	""	""	""	"1"	""	"00006"	"{PMID:Fan 2020:32883240}"	"2-generation family, 1 affected"	""	""	"China"	""	"0"	""	""	""	"Pat10"


## Individuals_To_Diseases ## Do not remove or alter this header ##
## Count = 184
"{{individualid}}"	"{{diseaseid}}"
"00155557"	"04240"
"00265356"	"03306"
"00265356"	"04240"
"00265370"	"03306"
"00265370"	"04240"
"00265371"	"03306"
"00265371"	"04240"
"00265372"	"03306"
"00265372"	"04240"
"00265640"	"03306"
"00265640"	"04240"
"00269766"	"03306"
"00269766"	"04240"
"00271180"	"03306"
"00271180"	"04240"
"00271181"	"03306"
"00271181"	"04240"
"00271182"	"03306"
"00271182"	"04240"
"00271183"	"03306"
"00271183"	"04240"
"00271310"	"03306"
"00271310"	"04240"
"00271312"	"04240"
"00271313"	"03306"
"00271313"	"04240"
"00271314"	"03306"
"00271314"	"04240"
"00271315"	"03306"
"00271315"	"04240"
"00271316"	"03306"
"00271316"	"04240"
"00271317"	"03306"
"00271317"	"04240"
"00271318"	"03306"
"00271318"	"04240"
"00271319"	"03306"
"00271319"	"04240"
"00271320"	"03306"
"00271320"	"04240"
"00271321"	"00128"
"00271321"	"03306"
"00271321"	"04240"
"00271322"	"03306"
"00271322"	"04240"
"00271323"	"03306"
"00271323"	"04240"
"00271324"	"03306"
"00271324"	"04240"
"00271329"	"03306"
"00271329"	"04240"
"00271332"	"03306"
"00271332"	"04240"
"00271334"	"03306"
"00271334"	"04240"
"00271335"	"03306"
"00271335"	"04240"
"00271336"	"03306"
"00271336"	"04240"
"00274333"	"03306"
"00274333"	"04240"
"00274334"	"03306"
"00274334"	"04240"
"00274335"	"03306"
"00274335"	"04240"
"00274336"	"00116"
"00274336"	"03306"
"00274336"	"04240"
"00274336"	"04367"
"00274337"	"00116"
"00274337"	"03306"
"00274337"	"04240"
"00274337"	"04367"
"00274354"	"03306"
"00274354"	"04240"
"00274354"	"04367"
"00274359"	"05301"
"00274454"	"05301"
"00287054"	"03306"
"00287055"	"03306"
"00287068"	"03306"
"00287069"	"03306"
"00287070"	"03306"
"00287071"	"03306"
"00287072"	"03306"
"00287073"	"03306"
"00287074"	"03306"
"00287075"	"03306"
"00287076"	"03306"
"00287077"	"03306"
"00287078"	"03306"
"00328045"	"04214"
"00328387"	"04214"
"00328388"	"04214"
"00332303"	"04214"
"00332304"	"04214"
"00332305"	"04214"
"00332306"	"04214"
"00332307"	"04214"
"00332310"	"04214"
"00332311"	"04214"
"00332312"	"04214"
"00333374"	"04214"
"00333376"	"04214"
"00333456"	"04214"
"00335198"	"04214"
"00335200"	"04214"
"00335203"	"04214"
"00335212"	"04214"
"00358992"	"04214"
"00358993"	"04214"
"00358994"	"04214"
"00358995"	"04214"
"00358996"	"04214"
"00358997"	"04214"
"00363353"	"04214"
"00363836"	"04214"
"00363840"	"04214"
"00363841"	"04214"
"00363842"	"00000"
"00373454"	"04214"
"00373455"	"04214"
"00373456"	"04214"
"00373457"	"04214"
"00373458"	"04214"
"00373459"	"04214"
"00373460"	"04214"
"00373462"	"04214"
"00375427"	"04214"
"00379492"	"04214"
"00379493"	"04214"
"00380755"	"04214"
"00380756"	"04214"
"00382141"	"03306"
"00383568"	"04214"
"00383569"	"04214"
"00383570"	"04214"
"00383571"	"04214"
"00383572"	"04214"
"00383573"	"04214"
"00383574"	"04214"
"00383575"	"04214"
"00383576"	"04214"
"00383577"	"04214"
"00383578"	"04214"
"00383644"	"04214"
"00383645"	"04214"
"00383646"	"04214"
"00383647"	"04214"
"00383648"	"04214"
"00383729"	"04214"
"00383730"	"04214"
"00384234"	"04214"
"00384270"	"04214"
"00384284"	"04214"
"00384313"	"04214"
"00384322"	"04214"
"00384328"	"04214"
"00384355"	"04214"
"00384372"	"04214"
"00384396"	"04214"
"00384412"	"04214"
"00384414"	"04214"
"00384432"	"04214"
"00384491"	"04214"
"00384498"	"04214"
"00385812"	"04214"
"00385813"	"04214"
"00385814"	"04214"
"00385815"	"04214"
"00385816"	"04214"
"00385817"	"04214"
"00385818"	"04214"
"00385819"	"04214"
"00388058"	"04214"
"00388246"	"04214"
"00388247"	"04214"
"00390410"	"04214"
"00391800"	"04214"
"00393716"	"04214"
"00413760"	"04214"
"00417192"	"04240"
"00417193"	"04240"
"00444884"	"00296"


## Phenotypes ## Do not remove or alter this header ##
## Note: Only showing Phenotype columns active for Diseases 00000, 00116, 00128, 00296, 03306, 04214, 04240, 04367, 05301
## Count = 135
"{{id}}"	"{{diseaseid}}"	"{{individualid}}"	"{{owned_by}}"	"{{Phenotype/Inheritance}}"	"{{Phenotype/Age}}"	"{{Phenotype/Additional}}"	"{{Phenotype/Age/Onset}}"	"{{Phenotype/Age/Diagnosis}}"	"{{Phenotype/Onset}}"	"{{Phenotype/Protein}}"	"{{Phenotype/Enzyme/CPK}}"	"{{Phenotype/Heart/Myocardium}}"	"{{Phenotype/Lung}}"	"{{Phenotype/Diagnosis/Definite}}"	"{{Phenotype/Diagnosis/Initial}}"
"0000128057"	"04240"	"00155557"	"01243"	"Familial, autosomal recessive"	""	""	""	""	""	""	""	""	""	""	"FEVR"
"0000203153"	"04240"	"00265356"	"03383"	"Familial, autosomal dominant"	"15y"	"familial exudative vitreoretinopathy (HP: 0030490)"	""	""	""	""	""	""	""	"exudative vitreoretinopathy type 5 (EVR-5; familial)"	"familial exudative vitreoretinopathy"
"0000203162"	"04240"	"00265370"	"03383"	"Familial, autosomal dominant"	"37y"	"familial exudative vitreoretinopathy (HP:0030490)"	""	""	""	""	""	""	""	"exudative vitreoretinopathy type 5 (EVR-5; familial)"	"familial exudative vitreoretinopathy"
"0000203163"	"04240"	"00265371"	"03383"	"Familial, autosomal dominant"	"13y"	"familial exudative vitreoretinopathy (HP:0030490)"	""	""	""	""	""	""	""	"exudative vitreoretinopathy type 5 (EVR-5; familial)"	"familial exudative vitreoretinopathy"
"0000203164"	"04240"	"00265372"	"03383"	"Isolated (sporadic)"	"11y"	"familial exudative vitreoretinopathy (HP:0030490), aphakia (HP:0007707), RE phthisis (HP:0000667)"	""	""	""	""	""	""	""	"exudative vitreoretinopathy type 5 (EVR-5; familial)"	"familial exudative vitreoretinopathy"
"0000203427"	"04240"	"00265640"	"03383"	"Familial, autosomal dominant"	"12y"	"familial exudative vitreoretinopathy (HP:0030490)"	"00y"	""	""	""	""	""	""	"exudative vitreoretinopathy type 5 (EVR-5; familial)"	"familial exudative vitreoretinopathy"
"0000207570"	"04240"	"00269766"	"03383"	"Familial, autosomal dominant"	""	"familial exudative vitreoretinopathy (HP: 0030490)"	""	""	""	""	""	""	""	"exudative vitreoretinopathy type 5 (EVR-5; familial)"	"familial exudative vitreoretinopathy"
"0000207797"	"04240"	"00271180"	"03383"	"Familial, autosomal dominant"	""	"familial exudative vitreoretinopathy (HP:0030490)"	""	""	""	""	""	""	""	"exudative vitreoretinopathy type 5 (EVR-5; familial)"	"familial exudative vitreoretinopathy"
"0000207921"	"04240"	"00271310"	"03383"	"Familial, autosomal dominant"	""	"familial exudative vitreoretinopathy (HP:0030490), macular ectopia (HP:0001103), left eye retinal folds (HP:0008052)"	""	""	""	""	""	""	""	"exudative vitreoretinopathy type 5 (EVR-5; familial)"	"familial exudative vitreoretinopathy"
"0000207922"	"04240"	"00271312"	"03383"	"Unknown"	""	"asymptomatic, bone spicule pigmentation of retina (HP:0007737) commonly associated with retinitis pigmentosa (HP:0000510), suspected old exudative retinal detachment (HP:0012231) spontaneously resolved"	""	""	""	""	""	""	""	""	""
"0000207923"	"04240"	"00271313"	"03383"	"Familial, autosomal dominant"	""	"familial exudative vitreoretinopathy (HP:0030490), bilateral retinal folds (HP:0008052)"	""	"00y"	""	""	""	""	""	"exudative vitreoretinopathy type 5 (EVR-5; familial)"	"familial exudative vitreoretinopathy"
"0000207924"	"04240"	"00271314"	"03383"	"Isolated (sporadic)"	"06y"	"exudative vitreoretinopathy (HP:0030490), bilateral retinal folds (HP:0008052), persistent hyperplastic primary vitreous (HP:0007968)"	""	""	""	""	""	""	""	"exudative vitreoretinopathy type 5 (EVR-5; familial)"	"familial exudative vitreoretinopathy"
"0000207925"	"04240"	"00271315"	"03383"	"Isolated (sporadic)"	""	"familial exudative vitreoretinopathy (HP:0030490), bilateral temporal retinal avascularity (HP:0007685), traction of retinal vasculature (HP:0007917)"	""	"40y-50y"	""	""	""	""	""	"exudative vitreoretinopathy type 5 (EVR-5; familial)"	"familial exudative vitreoretinopathy"
"0000207926"	"04240"	"00271316"	"03383"	"Familial, autosomal dominant"	"08y"	"familial exudative vitreoretinopathy (HP:0030490), bilateral retinal folds (HP:0008052)"	""	""	""	""	""	""	""	"exudative vitreoretinopathy type 5 (EVR-5; familial)"	"familial exudative vitreoretinopathy"
"0000207927"	"04240"	"00271317"	"03383"	"Familial, autosomal dominant"	""	"severe familial exudative vitreoretinopathy (HP:0030490)"	""	""	""	""	""	""	""	"exudative vitreoretinopathy type 5 (EVR-5; familial)"	"familial exudative vitreoretinopathy"
"0000207928"	"04240"	"00271318"	"03383"	"Isolated (sporadic)"	""	"familial exudative vitreoretinopathy (HP:0030490), bilateral macular traction (HP:0031151)"	""	"05y"	""	""	""	""	""	"exudative vitreoretinopathy type 5 (EVR-5; familial)"	"familial exudative vitreoretinopathy"
"0000207929"	"04240"	"00271319"	"03383"	"Familial"	""	"mild familial exudative vitreoretinopathy (HP:0030490)"	""	""	""	""	""	""	""	"exudative vitreoretinopathy type 5 (EVR-5; familial)"	"familial exudative vitreoretinopathy"
"0000207930"	"04240"	"00271320"	"03383"	"Familial, autosomal recessive"	""	"severe familial exudative vitreoretinopathy (HP:0030490), tractional retinal detachment (HP:0007917)"	""	""	""	""	""	""	""	"exudative vitreoretinopathy type 5 (EVR-5; familial)"	"familial exudative vitreoretinopathy"
"0000207931"	"04240"	"00271321"	"03383"	"Familial, autosomal recessive"	""	"familial exudative vitreoretinopathy (HP:0030490), bilateral retinal folds (HP:0008052)"	""	"00y"	""	""	""	""	""	"exudative vitreoretinopathy type 5 (EVR-5; familial)"	"familial exudative vitreoretinopathy"
"0000207932"	"04240"	"00271322"	"03383"	"Familial, autosomal recessive"	""	"familial exudative vitreoretinopathy (HP:0030490), bilateral retinal folds (HP:0008052)"	""	""	""	""	""	""	""	"exudative vitreoretinopathy type 5 (EVR-5; familial)"	"familial exudative vitreoretinopathy"
"0000207933"	"04240"	"00271323"	"03383"	"Familial"	"19y"	"unilateral congenital visual loss (HP:0030553), persistent hyperplasia primary vitreous (HP:0007968)"	""	""	""	""	""	""	""	"persistent hyperplasia primary vitreous"	""
"0000207934"	"04240"	"00271324"	"03383"	"Isolated (sporadic)"	"23y"	"familial exudative vitreoretinopathy (HP:0030490), bilateral congenital cataracts (HP:0000518), persistent hyperplasia primary vitreous (HP:0007968), retinal fold left eye (HP:0008052)"	""	""	""	""	""	""	""	"exudative vitreoretinopathy type 5 (EVR-5; familial)"	"familial exudative vitreoretinopathy"
"0000207937"	"04240"	"00271329"	"03383"	"Familial"	"00y04m"	"familial exudative vitreoretinopathy (HP:0030490), macular dragging left eye (HP:0031151)"	""	""	""	""	""	""	""	"exudative vitreoretinopathy type 5 (EVR-5; familial)"	"familial exudative vitreoretinopathy"
"0000207940"	"04240"	"00271332"	"03383"	"Unknown"	""	"familial exudative vitreoretinopathy (HP:0030490), bilateral macular dragging (HP:0031151)"	""	"00y04m"	""	""	""	""	""	"exudative vitreoretinopathy type 5 (EVR-5; familial)"	"familial exudative vitreoretinopathy"
"0000207942"	"04240"	"00271334"	"03383"	"Familial"	"06y"	"familial exudative vitreoretinopathy (HP:0030490), falciform retinal folds left eye (HP:0001493), strabismus (HP:0000486)"	""	""	""	""	""	""	""	"exudative vitreoretinopathy type 5 (EVR-5; familial)"	"familial exudative vitreoretinopathy"
"0000207943"	"04240"	"00271336"	"03383"	"Familial, autosomal dominant"	"03y"	"familial exudative vitreoretinopathy (HP:0030490), esotropia (HP:0000565)"	""	""	""	""	""	""	""	"exudative vitreoretinopathy type 5 (EVR-5; familial)"	"familial exudative vitreoretinopathy"
"0000209276"	"04240"	"00274333"	"03383"	"Familial, autosomal dominant"	"01y"	"exudative vitreoretinopathy (HP:0030490), bilateral retinal folds (HP:0008052)"	""	""	""	""	""	""	""	"exudative vitreoretinopathy type 5 (EVR-5; familial)"	"familial exudative vitreoretinopathy"
"0000209277"	"04240"	"00274334"	"03383"	"Familial, autosomal dominant"	"02y"	"exudative vitreoretinopathy (HP:0030490), esotropia (HP:0000565), falciform retinal folds (HP:0001493)"	""	""	""	""	""	""	""	"exudative vitreoretinopathy type 5 (EVR-5; familial)"	"familial exudative vitreoretinopathy"
"0000209278"	"04240"	"00274335"	"03383"	"Familial, autosomal dominant"	"07y"	"exudative vitreoretinopathy (HP:0030490), LE dragged disk"	""	""	""	""	""	""	""	"exudative vitreoretinopathy type 5 (EVR-5; familial)"	"familial exudative vitreoretinopathy"
"0000209279"	"04240"	"00274336"	"03383"	"Familial, autosomal recessive"	"24y"	"blindness (HP:0000618), phthisis bulbi (HP:0000667)"	""	""	""	""	""	""	""	"unclear"	""
"0000209280"	"04240"	"00274337"	"03383"	"Familial, autosomal recessive"	"00y01m"	"total retinal detachment (HP:0000541)"	""	""	""	""	""	""	""	""	"Norrie-like retinopathy"
"0000209298"	"04240"	"00274354"	"03383"	"Familial, autosomal dominant"	"07y"	"exudative vitreoretinopathy (HP:0030490), mild persistent hyperplasia of the primary vitreous (HP:0007968)"	""	"00y08m"	""	""	""	""	""	"exudative vitreoretinopathy type 5 (EVR-5; familial)"	"familial exudative vitreoretinopathy"
"0000220803"	"03306"	"00287054"	"03561"	"Familial"	"32y"	"best-corrected visual acuity (BCVA) in each eye was 20/20. Intraocular pressures were normal and there was no relative afferent pupillary defect. Slit lamp examination (SLE) was significant for LASIK flaps in each eye. Dilated funduscopic examination (DFE) was similar in both eyes and revealed crowded discs, normal maculae, and dragged and straightened posterior vessels. Peripheral retina examination revealed areas of pigment clumping with an abrupt termination of vasculature temporally; additionally, seafan-like lesions were seen in both eyes (Figure 1a,b). Ultra wide- field fluorescein angiography (UWFA) demonstrated marked temporal retinal nonperfusion with “brush-border” leakage and intense hyperfluorescence corresponding to the afore- mentioned peripheral lesions bilaterally"	""	""	""	""	""	""	""	"FEVR"	""
"0000220804"	"03306"	"00287055"	"03561"	"Familial"	"61y"	"no past medical history and a past ocular history of LASIK in both eyes. BCVA was 20/20 and SLE showed LASIK flaps and posterior vitreous detachment bilaterally. DFE showed mild temporal vascular dragging as well as peripheral pigmentary clumping in both eyes. UWFA showed avascularity in the far temporal retina as well as mild staining along some peripheral vessels in both eyes"	""	""	""	""	""	""	""	"FEVR"	""
"0000220805"	"03306"	"00287068"	"03561"	"Familial"	"30y"	"no past medical history and a past ocular history of LASIK in both eyes. BCVA was 20/20 and SLE showed LASIK flaps bilaterally. DFE showed supernumerary vessels in both eyes as well as mild temporal dragging with abrupt termination of retinal vessels associated with fibrovascular tissue in the left eye. UWFA showed patchy staining of peripheral retinal vessels in the right eye and a wedge-shaped area of temporal nonperfusion with “brush border” leakage in the left eye"	""	""	""	""	""	""	""	"FEVR"	""
"0000220806"	"03306"	"00287069"	"03561"	"Familial"	"31y"	"\"The Fundus photography and FFA examination of her showed that temporal peripheral ischemia led to neovascularization, dilation of peripheral retinal vessels, and fluorescein leakage in both eyes\""	""	""	""	""	""	""	""	"FEVR"	""
"0000220807"	"03306"	"00287070"	"03561"	"Familial"	"05y"	""	""	""	""	""	""	""	""	"FEVR"	""
"0000220808"	"03306"	"00287071"	"03561"	"Familial"	"05y"	""	""	""	""	""	""	""	""	"FEVR"	""
"0000220809"	"03306"	"00287072"	"03561"	"Familial"	"32y"	"\"The Fundus photography and FFA examination of her father showed that temporal peripheral ischemia leads to dilation of the brush-like peripheral retinal vessels in both eyes and neovascularization and fluorescein leakage in the right eye\""	""	""	""	""	""	""	""	"FEVR"	""
"0000220810"	"03306"	"00287073"	"03561"	"Familial"	"04y"	"\"the proband suffered ophthalmic problems and presented retinal detachment since birth\""	"0"	""	""	""	""	""	""	"FEVR"	""
"0000220811"	"03306"	"00287074"	"03561"	"Familial"	"31y"	""	""	""	""	""	""	""	""	"FEVR"	""
"0000220812"	"03306"	"00287075"	"03561"	"Familial"	"05y"	"\"the proband was confirmed as having FEVR and presented with mild vitreous opacity\""	""	""	""	""	""	""	""	"FEVR"	""
"0000220813"	"03306"	"00287076"	"03561"	"Familial"	"29y"	""	""	""	""	""	""	""	""	"FEVR"	""
"0000220814"	"03306"	"00287077"	"03561"	"Familial"	"32y"	""	""	""	""	""	""	""	""	"FEVR"	""
"0000220815"	"03306"	"00287078"	"03561"	"Familial"	"08y"	"\"the proband developed retinal detachment in both her eyes\""	""	""	""	""	""	""	""	"FEVR"	""
"0000246272"	"04214"	"00328045"	"00000"	"Unknown"	""	""	""	""	""	""	""	""	""	""	"familial exudative vitreoretinopathy"
"0000246613"	"04214"	"00328387"	"00006"	"Familial, autosomal dominant"	""	""	""	""	""	""	""	""	""	""	"early-onset high myopia"
"0000246614"	"04214"	"00328388"	"00006"	"Familial, autosomal dominant"	""	""	""	""	""	""	""	""	""	""	"early-onset high myopia"
"0000250490"	"04214"	"00332303"	"00000"	"Unknown"	""	""	""	""	""	""	""	""	""	""	"exudative vitreoretinopathy"
"0000250491"	"04214"	"00332304"	"00000"	"Unknown"	""	""	""	""	""	""	""	""	""	""	"exudative vitreoretinopathy"
"0000250492"	"04214"	"00332305"	"00000"	"Unknown"	""	""	""	""	""	""	""	""	""	""	"exudative vitreoretinopathy"
"0000250493"	"04214"	"00332306"	"00000"	"Unknown"	""	""	""	""	""	""	""	""	""	""	"exudative vitreoretinopathy"
"0000250494"	"04214"	"00332307"	"00000"	"Unknown"	""	""	""	""	""	""	""	""	""	""	"exudative vitreoretinopathy"
"0000250497"	"04214"	"00332310"	"00000"	"Unknown"	""	""	""	""	""	""	""	""	""	""	"exudative vitreoretinopathy"
"0000250498"	"04214"	"00332311"	"00000"	"Unknown"	""	""	""	""	""	""	""	""	""	""	"exudative vitreoretinopathy"
"0000250499"	"04214"	"00332312"	"00000"	"Unknown"	""	""	""	""	""	""	""	""	""	""	"exudative vitreoretinopathy"
"0000251561"	"04214"	"00333374"	"00000"	"Familial, autosomal dominant"	""	"see paper; ..."	""	""	""	""	""	""	""	""	"exudative vitreoretinopathy"
"0000251563"	"04214"	"00333376"	"00000"	"Unknown"	""	"see paper; ..."	""	""	""	""	""	""	""	""	"exudative vitreoretinopathy"
"0000251641"	"04214"	"00333456"	"00000"	"Unknown"	""	"see paper; ..."	""	""	""	""	""	""	""	""	"exudative vitreoretinopathy"
"0000252913"	"04214"	"00335198"	"00006"	"Unknown"	""	"see paper"	""	""	""	""	""	""	""	""	"exudative vitreoretinopathy"
"0000252915"	"04214"	"00335200"	"00006"	"Unknown"	""	"see paper"	""	""	""	""	""	""	""	""	"exudative vitreoretinopathy"
"0000252918"	"04214"	"00335203"	"00000"	"Familial, autosomal recessive"	""	"see paper; ..."	""	""	""	""	""	""	""	""	"retinal detachment"
"0000252927"	"04214"	"00335212"	"00000"	"Familial, autosomal recessive"	""	"see paper; ..."	""	""	""	""	""	""	""	""	"retinal detachment"
"0000254290"	"04214"	"00358992"	"00000"	"Unknown"	""	"see paper; ..."	""	""	""	""	""	""	""	""	"familial exudative vitreoretinopathy"
"0000254291"	"04214"	"00358993"	"00000"	"Unknown"	""	"see paper; ..."	""	""	""	""	""	""	""	""	"familial exudative vitreoretinopathy"
"0000254292"	"04214"	"00358994"	"00000"	"Unknown"	""	"see paper; ..."	""	""	""	""	""	""	""	""	"familial exudative vitreoretinopathy"
"0000254293"	"04214"	"00358995"	"00000"	"Unknown"	""	"see paper; ..."	""	""	""	""	""	""	""	""	"familial exudative vitreoretinopathy"
"0000254294"	"04214"	"00358996"	"00000"	"Unknown"	""	"see paper; ..."	""	""	""	""	""	""	""	""	"familial exudative vitreoretinopathy"
"0000254295"	"04214"	"00358997"	"00000"	"Unknown"	""	"see paper; ..."	""	""	""	""	""	""	""	""	"familial exudative vitreoretinopathy"
"0000258718"	"04214"	"00363353"	"00000"	"Familial, autosomal dominant"	""	""	""	""	""	""	""	""	""	""	"early onset high myopia"
"0000259183"	"04214"	"00363836"	"00000"	"Familial, autosomal dominant"	"4m"	"see paper; ..."	""	""	""	""	""	""	""	""	"familial exudative vitreoretinopathy"
"0000268730"	"04214"	"00373454"	"00000"	"Unknown"	""	"see paper; ..."	""	""	""	""	""	""	""	""	"familial exudative vitreoretinopathy"
"0000268731"	"04214"	"00373455"	"00000"	"Unknown"	""	"see paper; ..."	""	""	""	""	""	""	""	""	"familial exudative vitreoretinopathy"
"0000268732"	"04214"	"00373456"	"00000"	"Unknown"	""	"see paper; ..."	""	""	""	""	""	""	""	""	"familial exudative vitreoretinopathy"
"0000268733"	"04214"	"00373457"	"00000"	"Unknown"	""	"see paper; ..."	""	""	""	""	""	""	""	""	"familial exudative vitreoretinopathy"
"0000268734"	"04214"	"00373458"	"00000"	"Unknown"	""	"see paper; ..."	""	""	""	""	""	""	""	""	"familial exudative vitreoretinopathy"
"0000268735"	"04214"	"00373459"	"00000"	"Unknown"	""	"see paper; ..."	""	""	""	""	""	""	""	""	"familial exudative vitreoretinopathy"
"0000268736"	"04214"	"00373460"	"00000"	"Unknown"	""	"see paper; ..."	""	""	""	""	""	""	""	""	"familial exudative vitreoretinopathy"
"0000268738"	"04214"	"00373462"	"00000"	"Unknown"	""	"see paper; ..."	""	""	""	""	""	""	""	""	"familial exudative vitreoretinopathy"
"0000270641"	"04214"	"00375427"	"00000"	"Familial, autosomal recessive"	""	"see paper; ..."	""	""	""	""	""	""	""	""	"retinitis pigmentosa"
"0000273365"	"04214"	"00379492"	"00000"	"Familial, autosomal dominant"	""	""	""	""	""	""	""	""	""	""	"early-onset high myopia (eoHM)"
"0000273366"	"04214"	"00379493"	"00000"	"Familial, autosomal dominant"	""	""	""	""	""	""	""	""	""	""	"early-onset high myopia (eoHM)"
"0000274608"	"04214"	"00380755"	"00000"	"Familial, autosomal dominant"	"4m"	""	""	""	""	""	""	""	""	""	"Familial exudative vitreoretinopathy (FEVR)"
"0000274609"	"04214"	"00380756"	"00000"	"Familial, autosomal dominant"	"9y8m"	""	""	""	""	""	""	""	""	""	"Familial exudative vitreoretinopathy (FEVR)"
"0000275983"	"03306"	"00382141"	"00000"	"Familial, autosomal recessive"	""	"retinal dystrophy; MIM, 613310 (recessive forms reported)"	""	""	""	""	""	""	""	""	"MIM, 613310 (recessive forms reported)"
"0000277353"	"04214"	"00383568"	"00000"	"Familial, autosomal dominant"	""	""	""	""	""	""	""	""	""	""	"Familial exudative vitreoretinopathy"
"0000277354"	"04214"	"00383569"	"00000"	"Familial, autosomal dominant"	""	""	""	""	""	""	""	""	""	""	"Familial exudative vitreoretinopathy"
"0000277355"	"04214"	"00383570"	"00000"	"Familial, autosomal dominant"	""	""	""	""	""	""	""	""	""	""	"Familial exudative vitreoretinopathy"
"0000277356"	"04214"	"00383571"	"00000"	"Isolated (sporadic)"	""	""	""	""	""	""	""	""	""	""	"Familial exudative vitreoretinopathy"
"0000277357"	"04214"	"00383572"	"00000"	"Familial, autosomal dominant"	""	""	""	""	""	""	""	""	""	""	"Familial exudative vitreoretinopathy"
"0000277358"	"04214"	"00383573"	"00000"	"Isolated (sporadic)"	""	""	""	""	""	""	""	""	""	""	"Familial exudative vitreoretinopathy"
"0000277359"	"04214"	"00383574"	"00000"	"Familial, autosomal dominant"	""	""	""	""	""	""	""	""	""	""	"Familial exudative vitreoretinopathy"
"0000277360"	"04214"	"00383575"	"00000"	"Familial, autosomal dominant"	""	""	""	""	""	""	""	""	""	""	"Familial exudative vitreoretinopathy"
"0000277361"	"04214"	"00383576"	"00000"	"Isolated (sporadic)"	""	""	""	""	""	""	""	""	""	""	"Familial exudative vitreoretinopathy"
"0000277362"	"04214"	"00383577"	"00000"	"Isolated (sporadic)"	""	""	""	""	""	""	""	""	""	""	"Familial exudative vitreoretinopathy"
"0000277363"	"04214"	"00383578"	"00000"	"Familial, autosomal dominant"	""	""	""	""	""	""	""	""	""	""	"Familial exudative vitreoretinopathy"
"0000277429"	"04214"	"00383644"	"00000"	"Familial, autosomal dominant"	""	""	""	""	""	""	""	""	""	""	"Familial exudative vitreoretinopathy-associated rhegmatogenous retinal detachment"
"0000277430"	"04214"	"00383645"	"00000"	"Familial, autosomal dominant"	""	""	""	""	""	""	""	""	""	""	"Familial exudative vitreoretinopathy-associated rhegmatogenous retinal detachment"
"0000277431"	"04214"	"00383646"	"00000"	"Familial, autosomal dominant"	""	""	""	""	""	""	""	""	""	""	"Familial exudative vitreoretinopathy-associated rhegmatogenous retinal detachment"
"0000277432"	"04214"	"00383647"	"00000"	"Familial, autosomal dominant"	""	""	""	""	""	""	""	""	""	""	"Familial exudative vitreoretinopathy-associated rhegmatogenous retinal detachment"
"0000277433"	"04214"	"00383648"	"00000"	"Familial, autosomal dominant"	""	""	""	""	""	""	""	""	""	""	"Familial exudative vitreoretinopathy-associated rhegmatogenous retinal detachment"
"0000277514"	"04214"	"00383729"	"00000"	"Isolated (sporadic)"	""	"Total RD, unilateral, OS"	"2y"	""	""	""	""	""	""	"Familial exudative vitreoretinopathy"	"persistent fetal vasculature syndrome"
"0000277515"	"04214"	"00383730"	"00000"	"Isolated (sporadic)"	""	"Total RD, unilateral, OS"	"1y"	""	""	""	""	""	""	"Familial exudative vitreoretinopathy"	"Retinal detachment"
"0000278019"	"04214"	"00384234"	"00000"	"Familial, autosomal dominant"	""	""	""	""	""	""	""	""	""	""	"high myopia"
"0000278055"	"04214"	"00384270"	"00000"	"Familial, autosomal dominant"	""	""	""	""	""	""	""	""	""	""	"family exudative vitreoretinopathy"
"0000278069"	"04214"	"00384284"	"00000"	"Familial, autosomal dominant"	""	""	""	""	""	""	""	""	""	""	"family exudative vitreoretinopathy?"
"0000278098"	"04214"	"00384313"	"00000"	"Familial, autosomal dominant"	""	""	""	""	""	""	""	""	""	""	"family exudative vitreoretinopathy?"
"0000278107"	"04214"	"00384322"	"00000"	"Familial, autosomal dominant"	""	""	""	""	""	""	""	""	""	""	"family exudative vitreoretinopathy"
"0000278113"	"04214"	"00384328"	"00000"	"Familial, autosomal dominant"	""	""	""	""	""	""	""	""	""	""	"high myopia"
"0000278140"	"04214"	"00384355"	"00000"	"Familial, autosomal dominant"	""	""	""	""	""	""	""	""	""	""	"macular degeneration"
"0000278157"	"04214"	"00384372"	"00000"	"Familial, autosomal dominant"	""	""	""	""	""	""	""	""	""	""	"high myopia+family exudative vitreoretinopathy?"
"0000278181"	"04214"	"00384396"	"00000"	"Familial, autosomal dominant"	""	""	""	""	""	""	""	""	""	""	"family exudative vitreoretinopathyod"
"0000278197"	"04214"	"00384412"	"00000"	"Familial, autosomal dominant"	""	""	""	""	""	""	""	""	""	""	"family exudative vitreoretinopathy?"
"0000278199"	"04214"	"00384414"	"00000"	"Familial, autosomal dominant"	""	""	""	""	""	""	""	""	""	""	"family exudative vitreoretinopathyou?"
"0000278217"	"04214"	"00384432"	"00000"	"Familial, autosomal dominant"	""	""	""	""	""	""	""	""	""	""	"family exudative vitreoretinopathy"
"0000278276"	"04214"	"00384491"	"00000"	"Familial, autosomal dominant"	""	""	""	""	""	""	""	""	""	""	"family exudative vitreoretinopathy?"
"0000278283"	"04214"	"00384498"	"00000"	"Familial, autosomal dominant"	""	""	""	""	""	""	""	""	""	""	"retinal detachment"
"0000279621"	"04214"	"00385812"	"00000"	"Familial, autosomal dominant"	""	"normal vision, asymptomatic, fundus fluorescein angiography detected lesions which were confined to the peripheral retina"	""	""	""	""	""	""	""	"familial exudative vitreoretinopathy"	"familial exudative vitreoretinopathy"
"0000279622"	"04214"	"00385813"	"00000"	"Familial, autosomal dominant"	""	"normal vision, asymptomatic, fundus fluorescein angiography detected lesions which were confined to the peripheral retina"	""	""	""	""	""	""	""	"familial exudative vitreoretinopathy"	"familial exudative vitreoretinopathy"
"0000279623"	"04214"	"00385814"	"00000"	"Familial, autosomal dominant"	""	"normal vision, asymptomatic, fundus fluorescein angiography detected lesions which were confined to the peripheral retina"	""	""	""	""	""	""	""	"familial exudative vitreoretinopathy"	"familial exudative vitreoretinopathy"
"0000279624"	"04214"	"00385815"	"00000"	"Familial, autosomal dominant"	""	"normal vision, asymptomatic, fundus fluorescein angiography detected lesions which were confined to the peripheral retina"	""	""	""	""	""	""	""	"familial exudative vitreoretinopathy"	"familial exudative vitreoretinopathy"
"0000279625"	"04214"	"00385816"	"00000"	"Familial, autosomal dominant"	""	"normal vision, asymptomatic, fundus fluorescein angiography detected lesions which were confined to the peripheral retina"	""	""	""	""	""	""	""	"familial exudative vitreoretinopathy"	"familial exudative vitreoretinopathy"
"0000279626"	"04214"	"00385817"	"00000"	"Familial, autosomal dominant"	""	"normal vision, asymptomatic, fundus fluorescein angiography detected lesions which were confined to the peripheral retina"	""	""	""	""	""	""	""	"familial exudative vitreoretinopathy"	"familial exudative vitreoretinopathy"
"0000279627"	"04214"	"00385818"	"00000"	"Familial, autosomal dominant"	""	"normal vision, asymptomatic, fundus fluorescein angiography detected lesions which were confined to the peripheral retina"	""	""	""	""	""	""	""	"familial exudative vitreoretinopathy"	"familial exudative vitreoretinopathy"
"0000279628"	"04214"	"00385819"	"00000"	"Familial, autosomal dominant"	""	"normal vision, asymptomatic, fundus fluorescein angiography detected lesions which were confined to the peripheral retina"	""	""	""	""	""	""	""	"familial exudative vitreoretinopathy"	"familial exudative vitreoretinopathy"
"0000281652"	"04214"	"00388058"	"00000"	"Familial, autosomal recessive"	"42y"	"Strabismus"	"<1y"	""	""	""	""	""	""	""	"Familial exudative vitreoretinopathy (FEVR)"
"0000281805"	"04214"	"00388246"	"00000"	"Familial, autosomal dominant"	""	"unilateral FEVR, stage (right eye/left eye):0/3a"	""	""	""	""	""	""	""	"Familial exudative vitreoretinopathy"	""
"0000281806"	"04214"	"00388247"	"00000"	"Familial, autosomal dominant"	""	"stage (right eye/left eye):1a/1a"	""	""	""	""	""	""	""	"Familial exudative vitreoretinopathy"	""
"0000283948"	"04214"	"00390410"	"00000"	"Unknown"	""	""	""	""	""	""	""	""	""	""	"retinal disease"
"0000285114"	"04214"	"00391800"	"00000"	"Familial, autosomal dominant"	""	"birth weight: 2700g, lesion stage right/left eye: 4b/4b, intraocular pressure: 20/13, abnormal fundus in mother"	""	""	""	""	""	""	""	"ROPER (retinopathy of prematurity vs familial exudative vitreoretinopathy)"	"retinopathy of prematurity, atypical"
"0000286922"	"04214"	"00393716"	"00000"	"Familial, autosomal recessive"	"11y"	""	""	""	""	""	""	""	""	""	"Familial Exudative Vitreoretinopathy (FEVR)"
"0000305725"	"04214"	"00413760"	"00000"	"Unknown"	"4m"	"In both eyes, the anterior segment was shallow and there was a temporal mass posterior to the lens dragging the macula"	""	""	""	""	""	""	""	""	"familial exudative vitreoretinopathy (FEVR)"
"0000308702"	"04240"	"00417192"	"00006"	"Unknown"	""	"see paper; ..."	"00y21m"	""	""	""	""	""	""	"EVR5"	"familial exudative vitreoretinopathy"
"0000308703"	"04240"	"00417193"	"00006"	"Unknown"	"09y"	"see paper; ..."	""	""	""	""	""	""	""	"EVR5"	"familial exudative vitreoretinopathy"
"0000334134"	"00296"	"00444884"	"00006"	"Unknown"	""	"binocular, cortical/subcapsular; FEVR; cleft lip, cleft palate"	""	""	""	""	""	""	""	""	"cataract"


## Screenings ## Do not remove or alter this header ##
## Count = 144
"{{id}}"	"{{individualid}}"	"{{variants_found}}"	"{{owned_by}}"	"{{created_by}}"	"{{created_date}}"	"{{edited_by}}"	"{{edited_date}}"	"{{Screening/Technique}}"	"{{Screening/Template}}"	"{{Screening/Tissue}}"	"{{Screening/Remarks}}"
"0000156422"	"00155557"	"1"	"01243"	"01243"	"2018-03-18 14:37:15"	""	""	"SEQ"	"DNA"	""	""
"0000266475"	"00265356"	"1"	"03383"	"03383"	"2019-09-21 17:41:11"	""	""	"PCR"	"DNA"	""	"direct sequencing"
"0000266492"	"00265370"	"1"	"03383"	"03383"	"2019-09-23 00:05:14"	""	""	"PCR"	"DNA"	""	"direct sequencing"
"0000266493"	"00265371"	"1"	"03383"	"03383"	"2019-09-23 00:13:01"	""	""	"PCR"	"DNA"	""	"direct sequencing"
"0000266494"	"00265372"	"1"	"03383"	"03383"	"2019-09-23 00:22:24"	""	""	"PCR"	"DNA"	""	"direct sequencing"
"0000266763"	"00265640"	"1"	"03383"	"03383"	"2019-09-30 00:45:53"	"00006"	"2019-12-07 15:22:56"	"PCR;SEQ"	"DNA"	""	"direct sequencing"
"0000272330"	"00269766"	"1"	"03383"	"03383"	"2019-12-15 15:16:28"	""	""	"SEQ-NG-R"	"DNA"	""	"direct sequencing"
"0000272331"	"00271180"	"1"	"03383"	"03383"	"2019-12-15 15:53:46"	""	""	"SEQ-NG-R"	"DNA"	""	"direct sequencing"
"0000272332"	"00271181"	"1"	"03383"	"03383"	"2019-12-15 16:08:44"	""	""	"SEQ-NG-I"	"DNA"	""	"WGS"
"0000272333"	"00271182"	"1"	"03383"	"03383"	"2019-12-15 16:19:17"	""	""	"SEQ-NG-I"	"DNA"	""	"WGS"
"0000272334"	"00271183"	"1"	"03383"	"03383"	"2019-12-15 16:29:56"	""	""	"SEQ-NG-R"	"DNA"	""	"direct sequencing"
"0000272463"	"00271310"	"1"	"03383"	"03383"	"2019-12-17 21:28:34"	""	""	"?"	"DNA"	""	""
"0000272464"	"00271312"	"1"	"03383"	"03383"	"2019-12-17 21:52:40"	""	""	"?"	"DNA"	""	"direct sequencing"
"0000272465"	"00271313"	"1"	"03383"	"03383"	"2019-12-17 22:08:24"	""	""	"?"	"DNA"	""	""
"0000272466"	"00271314"	"1"	"03383"	"03383"	"2019-12-17 22:22:47"	""	""	"?"	"DNA"	""	"direct sequencing"
"0000272467"	"00271315"	"1"	"03383"	"03383"	"2019-12-17 22:30:37"	""	""	"?"	"DNA"	""	"direct sequencing"
"0000272468"	"00271316"	"1"	"03383"	"03383"	"2019-12-17 22:48:28"	""	""	"?"	"DNA"	""	"direct sequencing"
"0000272469"	"00271317"	"1"	"03383"	"03383"	"2019-12-17 22:57:46"	""	""	"?"	"DNA"	""	"direct sequencing"
"0000272470"	"00271318"	"1"	"03383"	"03383"	"2019-12-17 23:05:18"	""	""	"?"	"DNA"	""	"direct sequencing"
"0000272471"	"00271319"	"1"	"03383"	"03383"	"2019-12-18 00:07:10"	""	""	"PCR"	"DNA"	""	"direct sequencing"
"0000272472"	"00271320"	"1"	"03383"	"03383"	"2019-12-18 00:18:48"	""	""	"PCR"	"DNA"	""	"direct sequencing"
"0000272473"	"00271321"	"1"	"03383"	"03383"	"2019-12-18 00:25:53"	""	""	"PCR"	"DNA"	""	"direct sequencing"
"0000272474"	"00271322"	"1"	"03383"	"03383"	"2019-12-18 00:32:45"	""	""	"PCR"	"DNA"	""	"direct sequencing"
"0000272475"	"00271323"	"1"	"03383"	"03383"	"2019-12-18 00:48:43"	""	""	"PCR"	"DNA"	""	"direct sequencing"
"0000272476"	"00271324"	"1"	"03383"	"03383"	"2019-12-18 00:55:26"	""	""	"PCR"	"DNA"	""	"direct sequencing"
"0000272480"	"00271329"	"1"	"03383"	"03383"	"2019-12-18 15:21:27"	""	""	"PCRm;PCRsqd"	"DNA"	""	""
"0000272483"	"00271332"	"1"	"03383"	"03383"	"2019-12-18 15:41:34"	""	""	"PCRm;PCRsqd"	"DNA"	""	""
"0000272485"	"00271334"	"1"	"03383"	"03383"	"2019-12-18 16:05:24"	""	""	"SEQ"	"DNA"	""	"direct sequencing"
"0000272486"	"00271335"	"1"	"03383"	"03383"	"2019-12-18 16:12:57"	""	""	"SEQ"	"DNA"	""	"direct sequencing"
"0000272487"	"00271336"	"1"	"03383"	"03383"	"2019-12-18 16:20:23"	""	""	"SEQ"	"DNA"	""	"direct sequencing"
"0000275493"	"00274333"	"1"	"03383"	"03383"	"2019-12-29 14:52:09"	""	""	"PCR"	"DNA"	""	"direct sequencing"
"0000275494"	"00274334"	"1"	"03383"	"03383"	"2019-12-29 15:00:51"	""	""	"PCR"	"DNA"	""	"direct sequencing"
"0000275495"	"00274335"	"1"	"03383"	"03383"	"2019-12-29 15:07:28"	""	""	"PCR"	"DNA"	""	"direct sequencing"
"0000275496"	"00274336"	"1"	"03383"	"03383"	"2019-12-29 15:46:09"	""	""	"SEQ-NG"	"DNA"	""	"WES"
"0000275497"	"00274337"	"1"	"03383"	"03383"	"2019-12-29 15:54:54"	""	""	"SEQ-NG"	"DNA"	""	"WES"
"0000275514"	"00274354"	"1"	"03383"	"03383"	"2019-12-29 16:13:10"	""	""	"SEQ;SEQ-ON"	"DNA"	""	""
"0000275612"	"00274359"	"1"	"03383"	"03383"	"2019-12-30 23:32:36"	""	""	"PCR"	"DNA"	""	"gene panel"
"0000275614"	"00274454"	"1"	"03383"	"03383"	"2019-12-31 00:39:02"	""	""	"PCR"	"DNA"	""	"gene panel"
"0000288218"	"00287054"	"1"	"03561"	"03561"	"2020-02-11 15:39:30"	""	""	"?"	"DNA"	"blood"	""
"0000288231"	"00287055"	"1"	"03561"	"03561"	"2020-02-11 15:49:13"	""	""	"?"	"DNA"	"blood"	""
"0000288232"	"00287068"	"1"	"03561"	"03561"	"2020-02-11 15:53:39"	""	""	"?"	"DNA"	"blood"	""
"0000288233"	"00287069"	"1"	"03561"	"03561"	"2020-02-11 15:59:02"	""	""	"SEQ-NG-I"	"DNA"	"peripheral blood"	"Sanger sequencing"
"0000288234"	"00287070"	"1"	"03561"	"03561"	"2020-02-11 16:03:03"	""	""	"SEQ-NG-I"	"DNA"	"peripheral blood"	"Sanger sequencing"
"0000288235"	"00287071"	"1"	"03561"	"03561"	"2020-02-11 16:06:53"	""	""	"SEQ-NG-I"	"DNA"	"peripheral blood"	"Sanger sequencing"
"0000288236"	"00287072"	"1"	"03561"	"03561"	"2020-02-11 16:10:34"	""	""	"SEQ-NG-I"	"DNA"	"peripheral blood"	"Sanger sequencing"
"0000288237"	"00287073"	"1"	"03561"	"03561"	"2020-02-11 16:14:35"	""	""	"SEQ-NG-I"	"DNA"	"peripheral blood"	"Sanger sequencing"
"0000288238"	"00287074"	"1"	"03561"	"03561"	"2020-02-11 16:17:20"	""	""	"SEQ-NG-I"	"DNA"	"peripheral blood"	"Sanger sequencing"
"0000288239"	"00287075"	"1"	"03561"	"03561"	"2020-02-11 16:20:54"	""	""	"SEQ-NG-I"	"DNA"	"peripheral blood"	"Sanger sequencing"
"0000288240"	"00287076"	"1"	"03561"	"03561"	"2020-02-11 16:24:06"	""	""	"SEQ-NG-I"	"DNA"	"peripheral blood"	"Sanger sequencing"
"0000288241"	"00287077"	"1"	"03561"	"03561"	"2020-02-11 16:27:15"	""	""	"SEQ-NG-I"	"DNA"	"peripheral blood"	"Sanger sequencing"
"0000288242"	"00287078"	"1"	"03561"	"03561"	"2020-02-11 16:30:24"	""	""	"SEQ-NG-I"	"DNA"	"peripheral blood"	"Sanger sequencing"
"0000329260"	"00328045"	"1"	"00000"	"00006"	"2021-01-27 12:09:59"	""	""	"SEQ-NG"	"DNA"	""	"WGS"
"0000329601"	"00328387"	"1"	"00000"	"00006"	"2021-01-27 14:27:38"	""	""	"SEQ-NG"	"DNA"	""	"WES"
"0000329602"	"00328388"	"1"	"00000"	"00006"	"2021-01-27 14:27:38"	""	""	"SEQ-NG"	"DNA"	""	"WES"
"0000333523"	"00332303"	"1"	"00000"	"00006"	"2021-02-16 19:20:15"	""	""	"SEQ"	"DNA"	""	""
"0000333524"	"00332304"	"1"	"00000"	"00006"	"2021-02-16 19:20:15"	""	""	"SEQ"	"DNA"	""	""
"0000333525"	"00332305"	"1"	"00000"	"00006"	"2021-02-16 19:20:15"	""	""	"SEQ"	"DNA"	""	""
"0000333526"	"00332306"	"1"	"00000"	"00006"	"2021-02-16 19:20:15"	""	""	"SEQ"	"DNA"	""	""
"0000333527"	"00332307"	"1"	"00000"	"00006"	"2021-02-16 19:20:15"	""	""	"SEQ"	"DNA"	""	""
"0000333530"	"00332310"	"1"	"00000"	"00006"	"2021-02-16 19:20:15"	""	""	"SEQ"	"DNA"	""	""
"0000333531"	"00332311"	"1"	"00000"	"00006"	"2021-02-16 19:20:15"	""	""	"SEQ"	"DNA"	""	""
"0000333532"	"00332312"	"1"	"00000"	"00006"	"2021-02-16 19:20:15"	""	""	"SEQ"	"DNA"	""	""
"0000334599"	"00333374"	"1"	"00000"	"00006"	"2021-02-25 11:19:20"	""	""	"SEQ-NG;PCRq"	"DNA"	""	"790-gene panel"
"0000334601"	"00333376"	"1"	"00000"	"00006"	"2021-02-25 11:19:20"	""	""	"SEQ;SEQ-NG"	"DNA"	""	"790-gene panel"
"0000334681"	"00333456"	"1"	"00000"	"00006"	"2021-02-25 16:04:58"	""	""	"SEQ"	"DNA"	""	""
"0000336427"	"00335198"	"1"	"00006"	"00006"	"2021-03-04 11:52:48"	""	""	"SEQ;SEQ-NG"	"DNA"	""	"gene panel"
"0000336429"	"00335200"	"1"	"00006"	"00006"	"2021-03-04 11:52:48"	""	""	"SEQ;SEQ-NG"	"DNA"	""	"gene panel"
"0000336432"	"00335203"	"1"	"00000"	"00006"	"2021-03-04 13:13:00"	""	""	"arraySNP;SEQ-NG"	"DNA"	""	"gene panel"
"0000336441"	"00335212"	"1"	"00000"	"00006"	"2021-03-04 13:13:00"	""	""	"arraySNP;SEQ-NG"	"DNA"	""	"gene panel"
"0000360229"	"00358992"	"1"	"00000"	"00006"	"2021-03-18 13:20:30"	""	""	"SEQ"	"DNA"	""	"FZD4, LRP5, TSPAN12"
"0000360230"	"00358993"	"1"	"00000"	"00006"	"2021-03-18 13:20:30"	""	""	"SEQ"	"DNA"	""	"FZD4, LRP5, TSPAN12"
"0000360231"	"00358994"	"1"	"00000"	"00006"	"2021-03-18 13:20:30"	""	""	"SEQ"	"DNA"	""	"FZD4, LRP5, TSPAN12"
"0000360232"	"00358995"	"1"	"00000"	"00006"	"2021-03-18 13:20:30"	""	""	"SEQ"	"DNA"	""	"FZD4, LRP5, TSPAN12"
"0000360233"	"00358996"	"1"	"00000"	"00006"	"2021-03-18 13:20:30"	""	""	"SEQ"	"DNA"	""	"FZD4, LRP5, TSPAN12"
"0000360234"	"00358997"	"1"	"00000"	"00006"	"2021-03-18 13:20:30"	""	""	"SEQ"	"DNA"	""	"FZD4, LRP5, TSPAN12"
"0000364581"	"00363353"	"1"	"00000"	"00006"	"2021-04-26 18:22:04"	""	""	"SEQ-NG"	"DNA"	""	"WES"
"0000365064"	"00363836"	"1"	"00000"	"00006"	"2021-04-30 10:20:18"	""	""	"SEQ"	"DNA"	""	""
"0000365068"	"00363840"	"1"	"00000"	"00006"	"2021-04-30 10:20:18"	""	""	"SEQ"	"DNA"	""	""
"0000365069"	"00363841"	"1"	"00000"	"00006"	"2021-04-30 10:20:18"	""	""	"SEQ"	"DNA"	""	""
"0000365070"	"00363842"	"1"	"00000"	"00006"	"2021-04-30 10:20:18"	""	""	"SEQ"	"DNA"	""	""
"0000374689"	"00373454"	"1"	"00000"	"00006"	"2021-05-14 15:31:46"	""	""	"SEQ-NG"	"DNA"	""	"163-gene panel"
"0000374690"	"00373455"	"1"	"00000"	"00006"	"2021-05-14 15:31:46"	""	""	"SEQ-NG"	"DNA"	""	"163-gene panel"
"0000374691"	"00373456"	"1"	"00000"	"00006"	"2021-05-14 15:31:46"	""	""	"SEQ-NG"	"DNA"	""	"163-gene panel"
"0000374692"	"00373457"	"1"	"00000"	"00006"	"2021-05-14 15:31:46"	""	""	"SEQ-NG"	"DNA"	""	"163-gene panel"
"0000374693"	"00373458"	"1"	"00000"	"00006"	"2021-05-14 15:31:46"	""	""	"SEQ-NG"	"DNA"	""	"163-gene panel"
"0000374694"	"00373459"	"1"	"00000"	"00006"	"2021-05-14 15:31:46"	""	""	"SEQ-NG"	"DNA"	""	"163-gene panel"
"0000374695"	"00373460"	"1"	"00000"	"00006"	"2021-05-14 15:31:46"	""	""	"SEQ-NG"	"DNA"	""	"163-gene panel"
"0000374697"	"00373462"	"1"	"00000"	"00006"	"2021-05-14 15:31:46"	""	""	"SEQ-NG"	"DNA"	""	"163-gene panel"
"0000376624"	"00375427"	"1"	"00000"	"00006"	"2021-06-04 09:36:04"	""	""	"SEQ-NG"	"DNA"	""	"WES"
"0000380692"	"00379492"	"1"	"00000"	"00008"	"2021-08-05 00:17:46"	""	""	"SEQ"	"DNA"	"blood"	"WES"
"0000380693"	"00379493"	"1"	"00000"	"00008"	"2021-08-05 00:17:46"	""	""	"SEQ"	"DNA"	"blood"	"WES"
"0000381969"	"00380755"	"1"	"00000"	"03840"	"2021-08-23 12:02:42"	""	""	"SEQ-NG"	"DNA"	"blood"	""
"0000381970"	"00380756"	"1"	"00000"	"03840"	"2021-08-23 12:02:42"	""	""	"SEQ-NG"	"DNA"	"blood"	""
"0000383357"	"00382141"	"1"	"00000"	"03840"	"2021-09-07 10:12:12"	""	""	"SEQ-NG"	"DNA"	"blood"	""
"0000384793"	"00383568"	"1"	"00000"	"03840"	"2021-09-29 12:07:04"	""	""	"SEQ-NG"	"DNA"	"blood"	""
"0000384794"	"00383569"	"1"	"00000"	"03840"	"2021-09-29 12:07:04"	""	""	"SEQ-NG"	"DNA"	"blood"	""
"0000384795"	"00383570"	"1"	"00000"	"03840"	"2021-09-29 12:07:04"	""	""	"SEQ-NG"	"DNA"	"blood"	""
"0000384796"	"00383571"	"1"	"00000"	"03840"	"2021-09-29 12:07:04"	""	""	"SEQ-NG"	"DNA"	"blood"	""
"0000384797"	"00383572"	"1"	"00000"	"03840"	"2021-09-29 12:07:04"	""	""	"SEQ-NG"	"DNA"	"blood"	""
"0000384798"	"00383573"	"1"	"00000"	"03840"	"2021-09-29 12:07:04"	""	""	"SEQ-NG"	"DNA"	"blood"	""
"0000384799"	"00383574"	"1"	"00000"	"03840"	"2021-09-29 12:07:04"	""	""	"SEQ-NG"	"DNA"	"blood"	""
"0000384800"	"00383575"	"1"	"00000"	"03840"	"2021-09-29 12:07:04"	""	""	"SEQ-NG"	"DNA"	"blood"	""
"0000384801"	"00383576"	"1"	"00000"	"03840"	"2021-09-29 12:07:04"	""	""	"SEQ-NG"	"DNA"	"blood"	""
"0000384802"	"00383577"	"1"	"00000"	"03840"	"2021-09-29 12:07:04"	""	""	"SEQ-NG"	"DNA"	"blood"	""
"0000384803"	"00383578"	"1"	"00000"	"03840"	"2021-09-29 12:07:04"	""	""	"SEQ-NG"	"DNA"	"blood"	""
"0000384869"	"00383644"	"1"	"00000"	"03840"	"2021-09-29 12:15:15"	""	""	"SEQ-NG;SEQ"	"DNA"	"blood"	"paediatric disease gene panel"
"0000384870"	"00383645"	"1"	"00000"	"03840"	"2021-09-29 12:15:15"	""	""	"SEQ"	"DNA"	"blood"	"paediatric disease gene panel"
"0000384871"	"00383646"	"1"	"00000"	"03840"	"2021-09-29 12:15:15"	""	""	"SEQ-NG;SEQ"	"DNA"	"blood"	"paediatric disease gene panel"
"0000384872"	"00383647"	"1"	"00000"	"03840"	"2021-09-29 12:15:15"	""	""	"SEQ"	"DNA"	"blood"	"paediatric disease gene panel"
"0000384873"	"00383648"	"1"	"00000"	"03840"	"2021-09-29 12:15:15"	""	""	"SEQ-NG;SEQ"	"DNA"	"blood"	"paediatric disease gene panel"
"0000384954"	"00383729"	"1"	"00000"	"03840"	"2021-09-29 12:31:11"	""	""	"SEQ-NG;SEQ"	"DNA"	"blood"	""
"0000384955"	"00383730"	"1"	"00000"	"03840"	"2021-09-29 12:31:11"	""	""	"SEQ-NG;SEQ"	"DNA"	"blood"	""
"0000385459"	"00384234"	"1"	"00000"	"03840"	"2021-09-29 13:19:55"	""	""	"SEQ-NG"	"DNA"	"blood"	"panel of 126 genes"
"0000385495"	"00384270"	"1"	"00000"	"03840"	"2021-09-29 13:19:55"	""	""	"SEQ-NG"	"DNA"	"blood"	"panel of 126 genes"
"0000385509"	"00384284"	"1"	"00000"	"03840"	"2021-09-29 13:19:55"	""	""	"SEQ-NG"	"DNA"	"blood"	"panel of 126 genes"
"0000385538"	"00384313"	"1"	"00000"	"03840"	"2021-09-29 13:19:55"	""	""	"SEQ-NG"	"DNA"	"blood"	"panel of 126 genes"
"0000385547"	"00384322"	"1"	"00000"	"03840"	"2021-09-29 13:19:55"	""	""	"SEQ-NG"	"DNA"	"blood"	"panel of 126 genes"
"0000385553"	"00384328"	"1"	"00000"	"03840"	"2021-09-29 13:19:55"	""	""	"SEQ-NG"	"DNA"	"blood"	"panel of 126 genes"
"0000385580"	"00384355"	"1"	"00000"	"03840"	"2021-09-29 13:19:55"	""	""	"SEQ-NG"	"DNA"	"blood"	"panel of 126 genes"
"0000385597"	"00384372"	"1"	"00000"	"03840"	"2021-09-29 13:19:55"	""	""	"SEQ-NG"	"DNA"	"blood"	"panel of 126 genes"
"0000385621"	"00384396"	"1"	"00000"	"03840"	"2021-09-29 13:19:55"	""	""	"SEQ-NG"	"DNA"	"blood"	"panel of 126 genes"
"0000385637"	"00384412"	"1"	"00000"	"03840"	"2021-09-29 13:19:55"	""	""	"SEQ-NG"	"DNA"	"blood"	"panel of 126 genes"
"0000385639"	"00384414"	"1"	"00000"	"03840"	"2021-09-29 13:19:55"	""	""	"SEQ-NG"	"DNA"	"blood"	"panel of 126 genes"
"0000385657"	"00384432"	"1"	"00000"	"03840"	"2021-09-29 13:19:55"	""	""	"SEQ-NG"	"DNA"	"blood"	"panel of 126 genes"
"0000385716"	"00384491"	"1"	"00000"	"03840"	"2021-09-29 13:19:55"	""	""	"SEQ-NG"	"DNA"	"blood"	"panel of 126 genes"
"0000385723"	"00384498"	"1"	"00000"	"03840"	"2021-09-29 13:19:55"	""	""	"SEQ-NG"	"DNA"	"blood"	"panel of 126 genes"
"0000387040"	"00385812"	"1"	"00000"	"03840"	"2021-10-15 13:34:46"	""	""	"SEQ-NG"	"DNA"	"blood"	"custom genetic pediatric retinal disease panel (Tang et al., 2017)"
"0000387041"	"00385813"	"1"	"00000"	"03840"	"2021-10-15 13:34:46"	""	""	"SEQ-NG"	"DNA"	"blood"	"custom genetic pediatric retinal disease panel (Tang et al., 2017)"
"0000387042"	"00385814"	"1"	"00000"	"03840"	"2021-10-15 13:34:46"	""	""	"SEQ-NG"	"DNA"	"blood"	"custom genetic pediatric retinal disease panel (Tang et al., 2017)"
"0000387043"	"00385815"	"1"	"00000"	"03840"	"2021-10-15 13:34:46"	""	""	"SEQ-NG"	"DNA"	"blood"	"custom genetic pediatric retinal disease panel (Tang et al., 2017)"
"0000387044"	"00385816"	"1"	"00000"	"03840"	"2021-10-15 13:34:46"	""	""	"SEQ-NG"	"DNA"	"blood"	"custom genetic pediatric retinal disease panel (Tang et al., 2017)"
"0000387045"	"00385817"	"1"	"00000"	"03840"	"2021-10-15 13:34:46"	""	""	"SEQ-NG"	"DNA"	"blood"	"custom genetic pediatric retinal disease panel (Tang et al., 2017)"
"0000387046"	"00385818"	"1"	"00000"	"03840"	"2021-10-15 13:34:46"	""	""	"SEQ-NG"	"DNA"	"blood"	"custom genetic pediatric retinal disease panel (Tang et al., 2017)"
"0000387047"	"00385819"	"1"	"00000"	"03840"	"2021-10-15 13:34:46"	""	""	"SEQ-NG"	"DNA"	"blood"	"custom genetic pediatric retinal disease panel (Tang et al., 2017)"
"0000389297"	"00388058"	"1"	"00000"	"00008"	"2021-11-02 00:52:48"	"00008"	"2021-11-04 08:55:19"	"SEQ"	"DNA"	"blood"	""
"0000389485"	"00388246"	"1"	"00000"	"03840"	"2021-11-03 10:13:08"	""	""	"SEQ-NG"	"DNA"	"blood"	"targeted next-generation sequencing in six FEVR known genes"
"0000389486"	"00388247"	"1"	"00000"	"03840"	"2021-11-03 10:13:08"	""	""	"SEQ-NG"	"DNA"	"blood"	"targeted next-generation sequencing in six FEVR known genes"
"0000391651"	"00390410"	"1"	"00000"	"03840"	"2021-11-10 12:02:36"	""	""	"SEQ-NG-I"	"DNA"	"blood"	"whole genome sequencing"
"0000393043"	"00391800"	"1"	"00000"	"03840"	"2021-11-19 11:12:21"	""	""	"SEQ-NG"	"DNA"	"blood"	""
"0000394964"	"00393716"	"1"	"00000"	"00008"	"2021-11-30 07:46:38"	""	""	"SEQ-NG"	"DNA"	""	"hereditary eye disease enrichment panel (HEDEP)"
"0000415040"	"00413760"	"1"	"00000"	"00008"	"2022-07-22 03:34:11"	""	""	"SEQ-NG"	"DNA"	""	""
"0000418474"	"00417192"	"1"	"00006"	"00006"	"2022-09-13 15:45:14"	""	""	"?"	"DNA"	""	""
"0000418475"	"00417193"	"1"	"00006"	"00006"	"2022-09-13 15:51:28"	""	""	"SEQ"	"DNA"	""	""
"0000446453"	"00444884"	"1"	"00006"	"00006"	"2023-12-28 14:50:54"	""	""	"SEQ;SEQ-NG"	"DNA"	""	"792 gene panel"


## Screenings_To_Genes ## Do not remove or alter this header ##
## Count = 139
"{{screeningid}}"	"{{geneid}}"
"0000156422"	"TSPAN12"
"0000266475"	"TSPAN12"
"0000266492"	"TSPAN12"
"0000266493"	"TSPAN12"
"0000266494"	"TSPAN12"
"0000266763"	"TSPAN12"
"0000272330"	"TSPAN12"
"0000272331"	"TSPAN12"
"0000272334"	"TSPAN12"
"0000272463"	"TSPAN12"
"0000272464"	"TSPAN12"
"0000272465"	"TSPAN12"
"0000272466"	"TSPAN12"
"0000272467"	"TSPAN12"
"0000272468"	"TSPAN12"
"0000272469"	"TSPAN12"
"0000272470"	"TSPAN12"
"0000272471"	"TSPAN12"
"0000272472"	"TSPAN12"
"0000272473"	"TSPAN12"
"0000272474"	"TSPAN12"
"0000272475"	"TSPAN12"
"0000272476"	"TSPAN12"
"0000272480"	"TSPAN12"
"0000272483"	"TSPAN12"
"0000272485"	"TSPAN12"
"0000272486"	"TSPAN12"
"0000272487"	"TSPAN12"
"0000275493"	"TSPAN12"
"0000275494"	"TSPAN12"
"0000275495"	"TSPAN12"
"0000275612"	"FZD4"
"0000275612"	"LRP5"
"0000275612"	"NDP"
"0000275612"	"TSPAN12"
"0000275614"	"FZD4"
"0000275614"	"LRP5"
"0000275614"	"NDP"
"0000275614"	"TSPAN12"
"0000288218"	"FZD4"
"0000288218"	"LRP5"
"0000288218"	"NDP"
"0000288218"	"TSPAN12"
"0000288218"	"ZNF408"
"0000288231"	"FZD4"
"0000288231"	"LRP5"
"0000288231"	"NDP"
"0000288231"	"TSPAN12"
"0000288231"	"ZNF408"
"0000288232"	"FZD4"
"0000288232"	"LRP5"
"0000288232"	"NDP"
"0000288232"	"TSPAN12"
"0000288232"	"ZNF408"
"0000329260"	"TSPAN12"
"0000329601"	"TSPAN12"
"0000329602"	"TSPAN12"
"0000333523"	"TSPAN12"
"0000333524"	"TSPAN12"
"0000333525"	"TSPAN12"
"0000333526"	"TSPAN12"
"0000333527"	"TSPAN12"
"0000333530"	"TSPAN12"
"0000333531"	"TSPAN12"
"0000333532"	"TSPAN12"
"0000334599"	"TSPAN12"
"0000334601"	"TSPAN12"
"0000334681"	"TSPAN12"
"0000336427"	"FZD4"
"0000336427"	"TSPAN12"
"0000336429"	"FZD4"
"0000336429"	"TSPAN12"
"0000336432"	"TSPAN12"
"0000336441"	"TSPAN12"
"0000364581"	"TSPAN12"
"0000365064"	"TSPAN12"
"0000365068"	"TSPAN12"
"0000365069"	"TSPAN12"
"0000365070"	"TSPAN12"
"0000374689"	"TSPAN12"
"0000374690"	"TSPAN12"
"0000374691"	"TSPAN12"
"0000374692"	"TSPAN12"
"0000374693"	"TSPAN12"
"0000374694"	"TSPAN12"
"0000374695"	"TSPAN12"
"0000374697"	"TSPAN12"
"0000380692"	"TSPAN12"
"0000380693"	"TSPAN12"
"0000381969"	"LRP5"
"0000381970"	"LRP5"
"0000383357"	"TSPAN12"
"0000384793"	"TSPAN12"
"0000384794"	"TSPAN12"
"0000384795"	"TSPAN12"
"0000384796"	"TSPAN12"
"0000384797"	"TSPAN12"
"0000384798"	"TSPAN12"
"0000384799"	"TSPAN12"
"0000384800"	"TSPAN12"
"0000384801"	"TSPAN12"
"0000384802"	"TSPAN12"
"0000384803"	"TSPAN12"
"0000384954"	"TSPAN12"
"0000384955"	"TSPAN12"
"0000385459"	"TSPAN12"
"0000385495"	"TSPAN12"
"0000385509"	"FZD4"
"0000385538"	"TSPAN12"
"0000385547"	"TSPAN12"
"0000385553"	"TSPAN12"
"0000385580"	"TSPAN12"
"0000385597"	"TSPAN12"
"0000385621"	"TSPAN12"
"0000385637"	"TSPAN12"
"0000385639"	"TSPAN12"
"0000385657"	"TSPAN12"
"0000385716"	"TSPAN12"
"0000385723"	"TSPAN12"
"0000387040"	"TSPAN12"
"0000387041"	"TSPAN12"
"0000387042"	"TSPAN12"
"0000387043"	"TSPAN12"
"0000387044"	"TSPAN12"
"0000387045"	"TSPAN12"
"0000387046"	"TSPAN12"
"0000387047"	"TSPAN12"
"0000389297"	"TSPAN12"
"0000389485"	"TSPAN12"
"0000389486"	"TSPAN12"
"0000391651"	"TSPAN12"
"0000393043"	"TSPAN12"
"0000394964"	"TSPAN12"
"0000415040"	"FZD4"
"0000415040"	"LRP5"
"0000415040"	"NDP"
"0000415040"	"TSPAN12"
"0000418474"	"TSPAN12"
"0000418475"	"TSPAN12"


## 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 = 163
"{{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}}"
"0000309713"	"0"	"30"	"7"	"120480166"	"120480166"	"subst"	"2.0384E-5"	"02330"	"TSPAN12_000003"	"g.120480166G>A"	""	""	""	"TSPAN12(NM_012338.4):c.67-3C>T"	"VKGL data sharing initiative Nederland"	"CLASSIFICATION record"	""	""	"0"	""	""	"g.120840112G>A"	""	"likely benign"	""
"0000312105"	"0"	"10"	"7"	"120428799"	"120428799"	"subst"	"0.800807"	"02325"	"TSPAN12_000001"	"g.120428799C>A"	""	""	""	"TSPAN12(NM_012338.4):c.765G>T (p.P255=)"	"VKGL data sharing initiative Nederland"	"CLASSIFICATION record"	""	""	"0"	""	""	"g.120788745C>A"	""	"benign"	""
"0000317980"	"0"	"30"	"7"	"120450637"	"120450643"	"del"	"0"	"01943"	"TSPAN12_000002"	"g.120450637_120450643del"	""	""	""	"TSPAN12(NM_012338.3):c.361-15_361-9delGCTTTTT"	"VKGL data sharing initiative Nederland"	"CLASSIFICATION record"	""	""	"0"	""	""	"g.120810583_120810589del"	""	"likely benign"	""
"0000337044"	"0"	"10"	"7"	"120450658"	"120450658"	"subst"	"0"	"02327"	"TSPAN12_000007"	"g.120450658G>A"	""	""	""	""	"VKGL data sharing initiative Nederland"	"CLASSIFICATION record"	""	""	"0"	""	""	"g.120810604G>A"	""	"benign"	""
"0000337045"	"0"	"70"	"7"	"120496751"	"120496751"	"subst"	"0"	"02327"	"TSPAN12_000010"	"g.120496751C>T"	""	""	""	""	"VKGL data sharing initiative Nederland"	"CLASSIFICATION record"	""	""	"0"	""	""	"g.120856697C>T"	""	"likely pathogenic"	""
"0000344228"	"0"	"90"	"7"	"120455828"	"120455828"	"subst"	"0"	"02327"	"TSPAN12_000008"	"g.120455828A>T"	""	""	""	""	"VKGL data sharing initiative Nederland"	"CLASSIFICATION record"	""	""	"0"	""	""	"g.120815774A>T"	""	"pathogenic"	""
"0000348321"	"0"	"10"	"7"	"120428799"	"120428799"	"subst"	"0.800807"	"02327"	"TSPAN12_000001"	"g.120428799C>A"	""	""	""	"TSPAN12(NM_012338.4):c.765G>T (p.P255=)"	"VKGL data sharing initiative Nederland"	"CLASSIFICATION record"	""	""	"0"	""	""	"g.120788745C>A"	""	"benign"	""
"0000350147"	"0"	"50"	"7"	"120478941"	"120478941"	"subst"	"4.06636E-6"	"02327"	"TSPAN12_000009"	"g.120478941A>C"	""	""	""	""	"VKGL data sharing initiative Nederland"	"CLASSIFICATION record"	""	""	"0"	""	""	"g.120838887A>C"	""	"VUS"	""
"0000350860"	"0"	"10"	"7"	"120428607"	"120428607"	"subst"	"0.803113"	"02327"	"TSPAN12_000004"	"g.120428607G>A"	""	""	""	""	"VKGL data sharing initiative Nederland"	"CLASSIFICATION record"	""	""	"0"	""	""	"g.120788553G>A"	""	"benign"	""
"0000358344"	"3"	"70"	"7"	"120446673"	"120446673"	"subst"	"0"	"01243"	"TSPAN12_000011"	"g.120446673C>A"	""	"{PMID:Beryozkin 2015:26306921}, {PMID:Sharon 2019:31456290}"	""	""	""	"Germline"	""	""	"0"	""	""	"g.120806619C>A"	""	"likely pathogenic (recessive)"	""
"0000530584"	"0"	"10"	"7"	"120428696"	"120428696"	"subst"	"0.000415201"	"02330"	"TSPAN12_000012"	"g.120428696T>C"	""	""	""	"TSPAN12(NM_012338.4):c.868A>G (p.T290A)"	"VKGL data sharing initiative Nederland"	"CLASSIFICATION record"	""	""	""	""	""	"g.120788642T>C"	""	"benign"	""
"0000530585"	"0"	"10"	"7"	"120446592"	"120446592"	"subst"	"0.000997362"	"02330"	"TSPAN12_000013"	"g.120446592T>C"	""	""	""	"TSPAN12(NM_012338.4):c.612+11A>G"	"VKGL data sharing initiative Nederland"	"CLASSIFICATION record"	""	""	""	""	""	"g.120806538T>C"	""	"benign"	""
"0000597148"	"21"	"90"	"7"	"120428830"	"120428830"	"subst"	"4.06339E-6"	"03383"	"TSPAN12_000014"	"g.120428830A>G"	"0/380 control alleles"	"{PMID:Kondo 2011:21334594}"	""	""	""	"Germline"	"yes"	""	"0"	""	""	"g.120788776A>G"	""	"pathogenic (dominant)"	""
"0000597153"	"10"	"90"	"7"	"120428830"	"120428830"	"subst"	"4.06339E-6"	"03383"	"TSPAN12_000014"	"g.120428830A>G"	"0/380 control alleles"	"{PMID:Kondo 2011:21334594}"	""	""	""	"Germline"	"yes"	""	"0"	""	""	"g.120788776A>G"	""	"pathogenic (dominant)"	""
"0000597154"	"21"	"90"	"7"	"120428830"	"120428830"	"subst"	"4.06339E-6"	"03383"	"TSPAN12_000014"	"g.120428830A>G"	"0/380 control alleles"	"{PMID:Kondo 2011:21334594}"	""	""	""	"Germline"	"yes"	""	"0"	""	""	"g.120788776A>G"	""	"pathogenic (dominant)"	""
"0000597155"	"0"	"90"	"7"	"120450566"	"120450566"	"subst"	"0"	"03383"	"TSPAN12_000015"	"g.120450566A>T"	"0/380 control alleles"	"{PMID:Kondo 2011:21334594}"	""	""	""	"De novo"	"?"	""	"0"	""	""	"g.120810512A>T"	""	"pathogenic"	""
"0000610654"	"0"	"50"	"7"	"120428689"	"120428689"	"subst"	"2.85016E-5"	"02327"	"TSPAN12_000016"	"g.120428689A>G"	""	""	""	""	"VKGL data sharing initiative Nederland"	"CLASSIFICATION record"	""	""	""	""	""	"g.120788635A>G"	""	"VUS"	""
"0000610655"	"0"	"30"	"7"	"120450618"	"120450618"	"subst"	"0.000455262"	"01943"	"TSPAN12_000017"	"g.120450618C>G"	""	""	""	"TSPAN12(NM_012338.3):c.367G>C (p.V123L), TSPAN12(NM_012338.4):c.367G>C (p.V123L)"	"VKGL data sharing initiative Nederland"	"CLASSIFICATION record"	""	""	""	""	""	"g.120810564C>G"	""	"likely benign"	""
"0000624829"	"0"	"90"	"7"	"120450566"	"120450566"	"subst"	"0"	"03383"	"TSPAN12_000015"	"g.120450566A>T"	""	"{PMID:Kondo 2011:21334594}"	""	""	""	"Germline"	"yes"	""	"0"	""	""	"g.120810512A>T"	""	"pathogenic (dominant)"	""
"0000626220"	"20"	"90"	"7"	"120428855"	"120428855"	"subst"	"0"	"03383"	"TSPAN12_000005"	"g.120428855C>G"	""	"{PMID:Nikopoulos 2010:20159111}"	""	""	"likely on founder haplotype; variant not in 280 control alleles"	"Germline/De novo (untested)"	"?"	""	"0"	""	""	"g.120788801C>G"	""	"pathogenic (dominant)"	""
"0000626221"	"21"	"90"	"7"	"120428855"	"120428855"	"subst"	"0"	"03383"	"TSPAN12_000005"	"g.120428855C>G"	""	"{PMID:Nikopoulos 2010:20159111}"	""	""	"not in 280 control alleles"	"Germline"	"yes"	""	"0"	""	""	"g.120788801C>G"	""	"pathogenic (dominant)"	""
"0000626222"	"20"	"90"	"7"	"120428855"	"120428855"	"subst"	"0"	"03383"	"TSPAN12_000005"	"g.120428855C>G"	""	"{PMID:Nikopoulos 2010:20159111}"	""	""	"on founder haplotype, non-penetrance suggested; not in 280 control alleles"	"Germline"	"no"	""	"0"	""	""	"g.120788801C>G"	""	"pathogenic (dominant)"	""
"0000626223"	"1"	"90"	"7"	"120428855"	"120428855"	"subst"	"0"	"03383"	"TSPAN12_000005"	"g.120428855C>G"	""	"{PMID:Nikopoulos 2010:20159111}"	""	""	"on founder haplotype, found in 9 other affected in family, 1 healthy (non penetrance suspected); not in 280 control alleles"	"Germline"	""	""	"0"	""	""	"g.120788801C>G"	""	"pathogenic (dominant)"	""
"0000626224"	"10"	"70"	"7"	"120446653"	"120446653"	"subst"	"8.12737E-6"	"03383"	"TSPAN12_000006"	"g.120446653C>G"	""	"{PMID:Nikopoulos 2010:20159111}"	""	""	"not in 280 control alleles"	"Germline"	"yes"	""	"0"	""	""	"g.120806599C>G"	""	"likely pathogenic (dominant)"	""
"0000626389"	"11"	"90"	"7"	"120478907"	"120478913"	"dup"	"0"	"03383"	"TSPAN12_000042"	"g.120478907_120478913dup"	""	"{PMID:Poulter 2010:20159112}"	""	"218_219insGCTCTTT"	"figure shows insertion of GCTGTTT not GCTCTTT; premature termination at codon 118"	"Germline"	"?"	""	"0"	""	""	"g.120838853_120838859dup"	""	"likely pathogenic (dominant)"	""
"0000626390"	"1"	"90"	"7"	"120478907"	"120478913"	"dup"	"0"	"03383"	"TSPAN12_000042"	"g.120478907_120478913dup"	""	"{PMID:Poulter 2010:20159112}"	""	"218_219insGCTCTTT"	"figure shows insertion of GCTGTTT not GCTCTTT; premature termination at codon 118"	"Germline/De novo (untested)"	"?"	""	"0"	""	""	"g.120838853_120838859dup"	""	"likely pathogenic (dominant)"	""
"0000626391"	"11"	"90"	"7"	"120450566"	"120450566"	"subst"	"0"	"03383"	"TSPAN12_000015"	"g.120450566A>T"	""	"{PMID:Poulter 2010:20159112}"	""	""	"truncated protein (305 to 139 aa)"	"Germline"	"yes"	""	"0"	""	""	"g.120810512A>T"	""	"likely pathogenic (dominant)"	""
"0000626392"	"0"	"90"	"7"	"120480162"	"120480162"	"subst"	"4.07604E-6"	"03383"	"TSPAN12_000030"	"g.120480162A>C"	""	"{PMID:Poulter 2010:20159112}"	""	""	""	"De novo"	"?"	""	"0"	""	""	"g.120840108A>C"	""	"VUS"	""
"0000626393"	"0"	"90"	"7"	"120450625"	"120450629"	"del"	"0"	"03383"	"TSPAN12_000023"	"g.120450625_120450629del"	""	"{PMID:Poulter 2010:20159112}"	""	"361-1_361-5delACCAG"	"mutation removes splice acceptor site including consensus AG, possible outcomes of mutation: deletion of exon 6, retention of intron 5, activation of cryptic splice site"	"Germline/De novo (untested)"	""	""	"0"	""	""	"g.120810571_120810575del"	""	"likely pathogenic"	""
"0000626394"	"20"	"70"	"7"	"120480078"	"120480078"	"subst"	"8.15721E-6"	"03383"	"TSPAN12_000028"	"g.120480078T>C"	"0/500 control chromosomes"	"{PMID:Poulter 2010:20159112}"	""	""	""	"Germline"	"yes"	""	"0"	""	""	"g.120840024T>C"	""	"likely pathogenic (dominant)"	""
"0000626395"	"11"	"70"	"7"	"120455841"	"120455841"	"subst"	"0"	"03383"	"TSPAN12_000025"	"g.120455841A>T"	"0/400 control chromosomes"	"{PMID:Poulter 2010:20159112}"	""	""	""	"Germline"	"yes"	""	"0"	""	""	"g.120815787A>T"	""	"likely pathogenic"	""
"0000626396"	"0"	"70"	"7"	"120428935"	"120428935"	"subst"	"0"	"03383"	"TSPAN12_000019"	"g.120428935A>C"	"0/400 control chromosomes"	"{PMID:Poulter 2010:20159112}"	""	""	""	"Germline/De novo (untested)"	"?"	""	"0"	""	""	"g.120788881A>C"	""	"likely pathogenic (dominant)"	""
"0000626397"	"11"	"90"	"7"	"120450572"	"120450572"	"subst"	"4.06349E-6"	"03383"	"TSPAN12_000022"	"g.120450572T>C"	"0/500 control chromosomes"	"{PMID:Poulter 2012:22427576}"	""	""	"mild phenotype, heterozygous"	"Germline"	"yes"	""	"0"	""	""	"g.120810518T>C"	""	"pathogenic"	""
"0000626398"	"3"	"90"	"7"	"120450572"	"120450572"	"subst"	"4.06349E-6"	"03383"	"TSPAN12_000022"	"g.120450572T>C"	""	"{PMID:Poulter 2012:22427576}"	""	""	""	"Germline"	"yes"	""	"0"	""	""	"g.120810518T>C"	""	"pathogenic (recessive)"	""
"0000626399"	"3"	"90"	"7"	"120428896"	"120428896"	"subst"	"0"	"03383"	"TSPAN12_000018"	"g.120428896A>G"	""	"{PMID:Poulter 2012:22427576}"	""	""	""	"Germline"	"yes"	""	"0"	""	""	"g.120788842A>G"	""	"pathogenic (recessive)"	""
"0000626400"	"3"	"90"	"7"	"120480164"	"120480164"	"subst"	"0"	"03383"	"TSPAN12_000031"	"g.120480164C>G"	""	"{PMID:Poulter 2012:22427576}"	""	""	""	"Germline"	"yes"	""	"0"	""	""	"g.120840110C>G"	""	"likely pathogenic (recessive)"	""
"0000626401"	"10"	"90"	"7"	"120480164"	"120480164"	"subst"	"0"	"03383"	"TSPAN12_000031"	"g.120480164C>G"	""	"{PMID:Poulter 2012:22427576}"	""	""	""	"Germline"	"?"	""	"0"	""	""	"g.120840110C>G"	""	"likely pathogenic"	""
"0000626402"	"0"	"90"	"7"	"120480084"	"120480084"	"subst"	"4.07724E-6"	"03383"	"TSPAN12_000029"	"g.120480084G>A"	"0/500 control chromosomes"	"{PMID:Poulter 2012:22427576}"	""	""	"heterozygous, either germline or de novo"	"Germline/De novo (untested)"	"?"	""	"0"	""	""	"g.120840030G>A"	""	"pathogenic"	""
"0000626403"	"0"	"50"	"7"	"120478830"	"120478830"	"subst"	"0"	"03383"	"TSPAN12_000026"	"g.120478830C>T"	""	"{PMID:Poulter 2012:22427576}"	""	""	"heterozygous"	"Germline/De novo (untested)"	"?"	""	"0"	""	""	"g.120838776C>T"	""	"VUS"	""
"0000626405"	"1"	"50"	"7"	"120446731"	"120446731"	"subst"	"4.47162E-5"	"03383"	"TSPAN12_000021"	"g.120446731C>T"	""	"{PMID:Seo 2016:28002565}"	""	""	"hemizygous in patient, as whole gene deletion on other chromosome"	"Germline/De novo (untested)"	"?"	""	"0"	""	""	"g.120806677C>T"	""	"VUS"	""
"0000626406"	"0"	"50"	"7"	"120496762"	"120496762"	"subst"	"0"	"03383"	"TSPAN12_000032"	"g.120496762A>C"	""	"{PMID:Seo 2016:28002565}"	""	""	""	"Germline/De novo (untested)"	""	""	"0"	""	""	"g.120856708A>C"	""	"VUS"	""
"0000626407"	"1"	"90"	"7"	"120480084"	"120480084"	"subst"	"4.07724E-6"	"03383"	"TSPAN12_000029"	"g.120480084G>A"	""	"{PMID:Yang 2011:21552475}"	""	""	""	"Germline/De novo (untested)"	"?"	""	"0"	""	""	"g.120840030G>A"	""	"likely pathogenic"	""
"0000626408"	"1"	"90"	"7"	"120455830"	"120455830"	"subst"	"0"	"03383"	"TSPAN12_000024"	"g.120455830A>G"	""	"{PMID:Yang 2011:21552475}"	""	""	""	"Germline/De novo (untested)"	"?"	""	"0"	""	""	"g.120815776A>G"	""	"likely pathogenic"	""
"0000626409"	"11"	"90"	"7"	"120446615"	"120446615"	"del"	"0"	"03383"	"TSPAN12_000020"	"g.120446615del"	""	"{PMID:Yang 2011:21552475}"	""	"601delC"	""	"Germline"	"no"	""	"0"	""	""	"g.120806561del"	""	"likely pathogenic (dominant)"	""
"0000629524"	"21"	"90"	"7"	"120446649"	"120446649"	"subst"	"4.06359E-6"	"03383"	"TSPAN12_000036"	"g.120446649C>T"	""	"{PMID:Xu 2014:25352738}"	""	""	"0/400 control chromosomes"	"Germline"	"yes"	""	"0"	""	""	"g.120806595C>T"	""	"pathogenic (dominant)"	""
"0000629525"	"21"	"90"	"7"	"120478939"	"120478939"	"del"	"0"	"03383"	"TSPAN12_000038"	"g.120478939del"	""	"{PMID:Xu 2014:25352738}"	""	"177delC"	"0/400 control chromosomes"	"Germline"	"yes"	""	"0"	""	""	"g.120838885del"	""	"pathogenic (dominant)"	""
"0000629526"	"21"	"90"	"7"	"120478862"	"120478862"	"subst"	"2.43936E-5"	"03383"	"TSPAN12_000037"	"g.120478862G>A"	""	"{PMID:Xu 2014:25352738}"	""	""	"0/400 control chromosomes"	"Germline"	"yes"	""	"0"	""	""	"g.120838808G>A"	""	"pathogenic (dominant)"	""
"0000629527"	"3"	"90"	"7"	"120446673"	"120446673"	"subst"	"0"	"03383"	"TSPAN12_000011"	"g.120446673C>A"	""	"{PMID:Gal 2014:25250762}"	""	""	""	"Germline"	"yes"	""	"0"	""	""	"g.120806619C>A"	""	"pathogenic (recessive)"	""
"0000629528"	"3"	"90"	"7"	"120446673"	"120446673"	"subst"	"0"	"03383"	"TSPAN12_000011"	"g.120446673C>A"	""	"{PMID:Gal 2014:25250762}"	""	""	""	"Germline"	"yes"	""	"0"	""	""	"g.120806619C>A"	""	"pathogenic (recessive)"	""
"0000629545"	"21"	"90"	"7"	"120496817"	"120496817"	"subst"	"2.84241E-5"	"03383"	"TSPAN12_000039"	"g.120496817T>C"	""	"{PMID:Li 2019:31452356}"	""	""	""	"Germline"	"yes"	""	"0"	""	""	"g.120856763T>C"	""	"pathogenic (dominant)"	""
"0000629679"	"1"	"50"	"7"	"120455797"	"120455797"	"subst"	"0"	"03383"	"TSPAN12_000094"	"g.120455797C>T"	"1/29"	"{PMID:Zhang 2019:31009104}"	""	"954G>A"	""	"Germline/De novo (untested)"	"?"	""	"0"	""	""	"g.120815743C>T"	""	"VUS"	""
"0000629683"	"0"	"30"	"7"	"120428799"	"120428799"	"subst"	"0"	"03383"	"TSPAN12_000040"	"g.120428799C>A"	"2/29 cases"	"{PMID:Zhang 2019:31009104}"	""	"1373G>T"	""	"Germline/De novo (untested)"	""	"rs41623"	"0"	""	""	"g.120788745C>T"	""	"VUS"	""
"0000644083"	"21"	"70"	"7"	"120480078"	"120480078"	"subst"	"8.15721E-6"	"03561"	"TSPAN12_000028"	"g.120480078T>C"	""	"{PMID:Carroll 2019:31755339}"	""	""	""	"Germline"	"yes"	""	"0"	""	""	"g.120840024T>C"	""	"VUS"	""
"0000644109"	"21"	"70"	"7"	"120480078"	"120480078"	"subst"	"8.15721E-6"	"03561"	"TSPAN12_000028"	"g.120480078T>C"	""	"{PMID:Carroll 2019:31755339}"	""	""	""	"Germline"	"yes"	""	"0"	""	""	"g.120840024T>C"	""	"VUS"	""
"0000644110"	"0"	"70"	"7"	"120480078"	"120480078"	"subst"	"8.15721E-6"	"03561"	"TSPAN12_000028"	"g.120480078T>C"	""	"{PMID:Carroll 2019:31755339}"	""	""	""	"Germline"	"yes"	""	"0"	""	""	"g.120840024T>C"	""	"VUS"	""
"0000644111"	"0"	"90"	"7"	"120496817"	"120496817"	"subst"	"2.84241E-5"	"03561"	"TSPAN12_000039"	"g.120496817T>C"	"3/120 patients, 0/500 individual controls"	"{PMID:Yuan 2019:31513438}"	""	""	""	"Germline"	"yes"	"rs1341600790"	"0"	""	""	"g.120856763T>C"	""	"pathogenic"	""
"0000644112"	"21"	"90"	"7"	"120496817"	"120496817"	"subst"	"2.84241E-5"	"03561"	"TSPAN12_000039"	"g.120496817T>C"	"3/120 patients, 0/500 individual controls"	"{PMID:Yuan 2019:31513438}"	""	""	""	"Germline"	"yes"	"rs1341600790"	"0"	""	""	"g.120856763T>C"	""	"VUS"	""
"0000644113"	"21"	"90"	"7"	"120496817"	"120496817"	"subst"	"2.84241E-5"	"03561"	"TSPAN12_000039"	"g.120496817T>C"	"3/120 patients, 0/500 individual controls"	"{PMID:Yuan 2019:31513438}"	""	""	""	"Germline"	"yes"	"rs1341600790"	"0"	""	""	"g.120856763T>C"	""	"pathogenic"	""
"0000644114"	"0"	"90"	"7"	"120428950"	"120428950"	"subst"	"8.18632E-6"	"03561"	"TSPAN12_000035"	"g.120428950C>T"	"2/120 patients, 0/500 individual controls"	"{PMID:Yuan 2019:31513438}"	""	""	""	"Germline"	"yes"	"rs755620037"	"0"	""	""	"g.120788896C>T"	""	"pathogenic"	""
"0000644115"	"11"	"90"	"7"	"120428950"	"120428950"	"subst"	"8.18632E-6"	"03561"	"TSPAN12_000035"	"g.120428950C>T"	"2/120 patients, 0/500 individual controls"	"{PMID:Yuan 2019:31513438}"	""	""	""	"Germline"	"yes"	"rs755620037"	"0"	""	""	"g.120788896C>T"	""	"pathogenic"	""
"0000644116"	"0"	"90"	"7"	"120428869"	"120428869"	"del"	"0"	"03561"	"TSPAN12_000034"	"g.120428869del"	"2/120 patients, 0/500 individual controls"	"{PMID:Yuan 2019:31513438}"	""	"695delT"	""	"Germline"	"yes"	""	"0"	""	""	"g.120788815del"	""	"pathogenic"	""
"0000644117"	"21"	"90"	"7"	"120428869"	"120428869"	"del"	"0"	"03561"	"TSPAN12_000034"	"g.120428869del"	"2/120 patients, 0/500 individual controls"	"{PMID:Yuan 2019:31513438}"	""	"695delT"	""	"Germline"	"yes"	""	"0"	""	""	"g.120788815del"	""	"pathogenic"	""
"0000644118"	"0"	"90"	"7"	"120428723"	"120428732"	"del"	"0"	"03561"	"TSPAN12_000033"	"g.120428723_120428732del"	"3/120 patients, 0/500 individual controls"	"{PMID:Yuan 2019:31513438}"	""	""	""	"Germline"	"yes"	""	"0"	""	""	"g.120788669_120788678del"	""	"pathogenic"	""
"0000644119"	"0"	"90"	"7"	"120428723"	"120428732"	"del"	"0"	"03561"	"TSPAN12_000033"	"g.120428723_120428732del"	"3/120 patients, 0/500 individual controls"	"{PMID:Yuan 2019:31513438}"	""	""	""	"Germline"	"yes"	""	"0"	""	""	"g.120788669_120788678del"	""	"pathogenic"	""
"0000644120"	"21"	"90"	"7"	"120428723"	"120428732"	"del"	"0"	"03561"	"TSPAN12_000033"	"g.120428723_120428732del"	"3/120 patients, 0/500 individual controls"	"{PMID:Yuan 2019:31513438}"	""	""	""	"Germline"	"yes"	""	"0"	""	""	"g.120788669_120788678del"	""	"pathogenic"	""
"0000655728"	"0"	"30"	"7"	"120428731"	"120428731"	"subst"	"0.000544964"	"01943"	"TSPAN12_000044"	"g.120428731A>G"	""	""	""	"TSPAN12(NM_012338.3):c.833T>C (p.L278P)"	"VKGL data sharing initiative Nederland"	"CLASSIFICATION record"	""	""	""	""	""	"g.120788677A>G"	""	"likely benign"	""
"0000713383"	"0"	"90"	"7"	"120478889"	"120478891"	"del"	"4.06398E-6"	"00000"	"TSPAN12_000047"	"g.120478889_120478891del"	""	"{PMID:Carss 2017:28041643}"	""	"7:120478888AATG>A ENST00000222747.3:c.225_227delCAT (Ile76del)"	""	"Germline"	""	""	"0"	""	""	""	""	"pathogenic"	""
"0000713949"	"1"	"90"	"7"	"120428713"	"120428713"	"subst"	"0"	"00000"	"TSPAN12_000045"	"g.120428713G>A"	""	"{PMID:Zhou 2018:29453956}"	""	""	""	"Germline"	""	""	"0"	""	""	"g.120788659G>A"	""	"pathogenic (dominant)"	""
"0000713950"	"1"	"90"	"7"	"120446616"	"120446616"	"subst"	"0"	"00000"	"TSPAN12_000046"	"g.120446616T>C"	""	"{PMID:Zhou 2018:29453956}"	""	""	""	"Germline"	""	""	"0"	""	""	"g.120806562T>C"	""	"pathogenic (dominant)"	""
"0000731196"	"1"	"90"	"7"	"120496816"	"120496816"	"subst"	"0"	"00000"	"TSPAN12_000054"	"g.120496816A>G"	""	"{PMID:Tang 2017:29181528}"	""	""	""	"Germline"	""	""	"0"	""	""	"g.120856762A>G"	""	"pathogenic"	""
"0000731197"	"1"	"90"	"7"	"120450521"	"120450521"	"subst"	"5.28786E-5"	"00000"	"TSPAN12_000051"	"g.120450521C>G"	""	"{PMID:Tang 2017:29181528}"	""	""	""	"Germline"	""	"rs768053082"	"0"	""	""	"g.120810467C>G"	""	"pathogenic"	""
"0000731198"	"1"	"90"	"7"	"120450548"	"120450548"	"dup"	"0"	"00000"	"TSPAN12_000052"	"g.120450548dup"	""	"{PMID:Tang 2017:29181528}"	""	"438_439insT"	""	"Germline"	""	""	"0"	""	""	"g.120810494dup"	""	"pathogenic"	""
"0000731199"	"1"	"90"	"7"	"120428909"	"120428909"	"del"	"0"	"00000"	"TSPAN12_000049"	"g.120428909del"	""	"{PMID:Tang 2017:29181528}"	""	"655delC"	""	"Germline"	""	""	"0"	""	""	"g.120788855del"	""	"pathogenic"	""
"0000731200"	"1"	"90"	"7"	"120428644"	"120428649"	"del"	"0"	"00000"	"TSPAN12_000048"	"g.120428644_120428649del"	""	"{PMID:Tang 2017:29181528}"	""	"916-918+3delTAAAAA"	""	"Germline"	""	""	"0"	""	""	"g.120788590_120788595del"	""	"pathogenic"	""
"0000731203"	"1"	"90"	"7"	"120478967"	"120478967"	"subst"	"0"	"00000"	"TSPAN12_000053"	"g.120478967C>T"	""	"{PMID:Tang 2017:29181528}"	""	""	""	"Germline"	""	""	"0"	""	""	"g.120838913C>T"	""	"pathogenic"	""
"0000731204"	"1"	"90"	"7"	"120478830"	"120478830"	"subst"	"0"	"00000"	"TSPAN12_000026"	"g.120478830C>T"	""	"{PMID:Tang 2017:29181528}"	""	""	""	"Germline"	""	""	"0"	""	""	"g.120838776C>T"	""	"pathogenic"	""
"0000731205"	"1"	"90"	"7"	"120446747"	"120446747"	"subst"	"0"	"00000"	"TSPAN12_000050"	"g.120446747C>T"	""	"{PMID:Tang 2017:29181528}"	""	""	""	"Germline"	""	""	"0"	""	""	"g.120806693C>T"	""	"pathogenic"	""
"0000732530"	"1"	"90"	"7"	"120427374"	"120428952"	"del"	"0"	"00000"	"TSPAN12_000096"	"g.(?_120427374)_(120428952_120446602)del"	""	"{PMID:Huang 2017:28867931}"	""	"del ex8"	""	"Germline"	""	""	"0"	""	""	""	""	"pathogenic"	""
"0000732532"	"1"	"90"	"7"	"120428758"	"120428758"	"subst"	"0"	"00000"	"TSPAN12_000055"	"g.120428758T>A"	""	"{PMID:Huang 2017:28867931}"	""	""	""	"Germline"	""	""	"0"	""	""	"g.120788704T>A"	""	"pathogenic"	""
"0000732661"	"21"	"70"	"7"	"120480165"	"120480165"	"subst"	"0"	"00000"	"TSPAN12_000056"	"g.120480165T>C"	""	"{PMID:Iarossi 2017:28758032}"	""	""	""	"Germline"	""	""	"0"	""	""	"g.120840111T>C"	""	"likely pathogenic"	""
"0000735800"	"0"	"90"	"7"	"120446650"	"120446650"	"subst"	"0"	"00006"	"TSPAN12_000057"	"g.120446650A>G"	""	"{PMID:Schatz 2017:28211206}"	""	""	""	"Germline"	""	""	"0"	""	""	""	""	"pathogenic"	""
"0000735804"	"11"	"90"	"7"	"120446650"	"120446650"	"subst"	"0"	"00006"	"TSPAN12_000057"	"g.120446650A>G"	""	"{PMID:Schatz 2017:28211206}"	""	""	""	"Germline"	""	""	"0"	""	""	""	""	"pathogenic"	""
"0000735807"	"3"	"90"	"7"	"120455859"	"120455859"	"subst"	"0"	"00000"	"TSPAN12_000095"	"g.120455859T>C"	""	"{PMID:Keser 2017:28192794}"	""	"IVS4-2A>G"	"variant description assumes reference transcript intron numbering (not specified in paper)"	"Germline"	"yes"	""	"0"	""	""	""	""	"pathogenic"	""
"0000735816"	"3"	"90"	"7"	"120450562"	"120450562"	"del"	"0"	"00000"	"TSPAN12_000058"	"g.120450562del"	""	"{PMID:Keser 2017:28192794}"	""	"423del T"	""	"Germline"	"yes"	""	"0"	""	""	"g.120810508del"	""	"pathogenic"	""
"0000760117"	"0"	"90"	"7"	"120480105"	"120480105"	"subst"	"0"	"00000"	"TSPAN12_000061"	"g.120480105A>G"	""	"{PMID:Musada 2016:27316669}"	""	""	""	"Germline"	""	""	"0"	""	""	"g.120840051A>G"	""	"pathogenic"	""
"0000760118"	"0"	"90"	"7"	"120446736"	"120446736"	"subst"	"0"	"00000"	"TSPAN12_000059"	"g.120446736C>T"	""	"{PMID:Musada 2016:27316669}"	""	""	""	"Germline"	""	""	"0"	""	""	"g.120806682C>T"	""	"pathogenic"	""
"0000760119"	"0"	"90"	"7"	"120446736"	"120446736"	"subst"	"0"	"00000"	"TSPAN12_000059"	"g.120446736C>T"	""	"{PMID:Musada 2016:27316669}"	""	""	""	"Germline"	""	""	"0"	""	""	"g.120806682C>T"	""	"pathogenic"	""
"0000760120"	"0"	"90"	"7"	"120446736"	"120446736"	"subst"	"0"	"00000"	"TSPAN12_000059"	"g.120446736C>T"	""	"{PMID:Musada 2016:27316669}"	""	""	""	"Germline"	""	""	"0"	""	""	"g.120806682C>T"	""	"pathogenic"	""
"0000760121"	"0"	"90"	"7"	"120446736"	"120446736"	"subst"	"0"	"00000"	"TSPAN12_000059"	"g.120446736C>T"	""	"{PMID:Musada 2016:27316669}"	""	""	""	"Germline"	""	""	"0"	""	""	"g.120806682C>T"	""	"pathogenic"	""
"0000760122"	"0"	"90"	"7"	"120455809"	"120455809"	"subst"	"9.82254E-5"	"00000"	"TSPAN12_000060"	"g.120455809C>T"	""	"{PMID:Musada 2016:27316669}"	""	""	""	"Germline"	""	""	"0"	""	""	"g.120815755C>T"	""	"pathogenic"	""
"0000765446"	"1"	"90"	"7"	"120478885"	"120478885"	"del"	"0"	"00000"	"TSPAN12_000062"	"g.120478885del"	"1/596 chromosomes"	"{PMID:Sun 2015:26747767}"	""	"231del"	"not in 624 control chromosomes"	"Germline"	""	""	"0"	""	""	"g.120838831del"	""	"pathogenic"	""
"0000766016"	"1"	"70"	"7"	"120496762"	"120496762"	"subst"	"0"	"00000"	"TSPAN12_000032"	"g.120496762A>C"	""	"{PMID:Seo 2015:26244290}"	""	""	"not in 288 control alleles"	"Germline"	""	""	"0"	""	""	"g.120856708A>C"	""	"likely pathogenic (dominant)"	""
"0000766020"	"1"	"50"	"7"	"120478922"	"120478922"	"subst"	"8.12988E-6"	"00000"	"TSPAN12_000063"	"g.120478922G>A"	"2/51 patients"	"{PMID:Seo 2015:26244290}"	""	""	"not in 354 control alleles"	"Germline"	""	""	"0"	""	""	"g.120838868G>A"	""	"VUS"	""
"0000766021"	"3"	"30"	"7"	"120446731"	"120446731"	"subst"	"4.47162E-5"	"00000"	"TSPAN12_000021"	"g.120446731C>T"	"1/51 patients"	"{PMID:Seo 2015:26244290}"	""	""	""	"Germline"	"no"	""	"0"	""	""	"g.120806677C>T"	""	"likely benign"	""
"0000766022"	"1"	"30"	"7"	"120446731"	"120446731"	"subst"	"4.47162E-5"	"00000"	"TSPAN12_000021"	"g.120446731C>T"	"1/350 control alleles"	"{PMID:Seo 2015:26244290}"	""	""	""	"Germline"	""	""	"0"	""	""	"g.120806677C>T"	""	"likely benign"	""
"0000785502"	"0"	"90"	"7"	"120446634"	"120446634"	"del"	"0"	"00000"	"TSPAN12_000065"	"g.120446634del"	""	"{PMID:Salvo 2015:25711638}"	""	"581delA"	""	"Germline"	""	""	"0"	""	""	"g.120806580del"	""	"pathogenic"	""
"0000785503"	"0"	"90"	"7"	"120446634"	"120446634"	"del"	"0"	"00000"	"TSPAN12_000065"	"g.120446634del"	""	"{PMID:Salvo 2015:25711638}"	""	"581delA"	""	"Germline"	""	""	"0"	""	""	"g.120806580del"	""	"pathogenic"	""
"0000785504"	"0"	"90"	"7"	"120446615"	"120446615"	"del"	"0"	"00000"	"TSPAN12_000020"	"g.120446615del"	""	"{PMID:Salvo 2015:25711638}"	""	"601delC"	""	"Germline"	""	""	"0"	""	""	"g.120806561del"	""	"pathogenic"	""
"0000785505"	"0"	"90"	"7"	"120446602"	"120446602"	"subst"	"0"	"00000"	"TSPAN12_000064"	"g.120446602C>T"	""	"{PMID:Salvo 2015:25711638}"	""	""	""	"Germline"	"yes"	""	"0"	""	""	"g.120806548C>T"	""	"pathogenic"	""
"0000785506"	"0"	"90"	"7"	"120480080"	"120480080"	"subst"	"0"	"00000"	"TSPAN12_000068"	"g.120480080C>T"	""	"{PMID:Salvo 2015:25711638}"	""	""	""	"Germline"	""	""	"0"	""	""	"g.120840026C>T"	""	"pathogenic"	""
"0000785507"	"0"	"90"	"7"	"120480080"	"120480080"	"subst"	"0"	"00000"	"TSPAN12_000068"	"g.120480080C>T"	""	"{PMID:Salvo 2015:25711638}"	""	""	""	"Germline"	""	""	"0"	""	""	"g.120840026C>T"	""	"pathogenic"	""
"0000785508"	"0"	"90"	"7"	"120455835"	"120455835"	"subst"	"0"	"00000"	"TSPAN12_000067"	"g.120455835A>G"	""	"{PMID:Salvo 2015:25711638}"	""	""	""	"Germline"	""	""	"0"	""	""	"g.120815781A>G"	""	"pathogenic"	""
"0000785510"	"0"	"90"	"7"	"120450545"	"120450545"	"subst"	"0.000125989"	"00000"	"TSPAN12_000066"	"g.120450545G>T"	""	"{PMID:Salvo 2015:25711638}"	""	""	""	"Germline"	""	""	"0"	""	""	"g.120810491G>T"	""	"pathogenic"	""
"0000788462"	"0"	"50"	"7"	"120478842"	"120478842"	"subst"	"0"	"00000"	"TSPAN12_000069"	"g.120478842G>A"	""	"{PMID:Katagiri 2014:25268133}"	""	"C274T"	""	"Germline"	""	""	"0"	""	""	"g.120838788G>A"	""	"VUS"	""
"0000793844"	"0"	"70"	"7"	"120428713"	"120428713"	"subst"	"0"	"00000"	"TSPAN12_000045"	"g.120428713G>A"	""	"{PMID:Zhou-2011:21677794}"	""	"c.851C>T"	""	"Unknown"	""	""	"0"	""	""	""	""	"likely pathogenic"	""
"0000793845"	"0"	"70"	"7"	"120446616"	"120446616"	"subst"	"0"	"00000"	"TSPAN12_000046"	"g.120446616T>C"	""	"{PMID:Zhou-2011:21677794}"	""	"c.599A>G"	""	"Unknown"	""	""	"0"	""	""	""	""	"likely pathogenic"	""
"0000795600"	"21"	"50"	"7"	"120478922"	"120478922"	"subst"	"8.12988E-6"	"00000"	"TSPAN12_000063"	"g.120478922G>A"	""	"{PMID:Surl 2020:32165824}"	""	"c.194C>T, p.P65L"	""	"Germline"	"yes"	""	"0"	""	""	"g.120838868G>A"	""	"VUS"	"ACMG"
"0000795601"	"21"	"50"	"7"	"120446680"	"120446680"	"subst"	"0"	"00000"	"TSPAN12_000070"	"g.120446680C>A"	""	"{PMID:Surl 2020:32165824}"	""	"c.535G>T, p.D179Y"	""	"Germline"	"yes"	""	"0"	""	""	"g.120806626C>A"	""	"VUS"	"ACMG"
"0000797418"	"3"	"70"	"7"	"120450626"	"120450626"	"subst"	"0"	"00000"	"TSPAN12_000071"	"g.120450626T>C"	""	"{PMID:Patel 2019:30653986}"	""	"c.361-2A-->G; p.?"	"no Sanger sequencing; homozygous"	"Germline"	"?"	""	"0"	""	""	"g.120810572T>C"	""	"likely pathogenic"	""
"0000811585"	"0"	"70"	"7"	"120455858"	"120455858"	"subst"	"0"	"00000"	"TSPAN12_000082"	"g.120455858C>A"	""	"{PMID:Wang 2019:31299183}"	""	"TSPAN12 286-1G?>?T, -"	""	"Germline"	"?"	""	"0"	""	""	"g.120815804C>A"	""	"likely pathogenic"	""
"0000811586"	"0"	"70"	"7"	"120455858"	"120455858"	"subst"	"0"	"00000"	"TSPAN12_000082"	"g.120455858C>A"	""	"{PMID:Wang 2019:31299183}"	""	"TSPAN12 286-1G?>?T, -"	""	"Germline"	"?"	""	"0"	""	""	"g.120815804C>A"	""	"likely pathogenic"	""
"0000811587"	"0"	"70"	"7"	"120478830"	"120478830"	"subst"	"0"	"00000"	"TSPAN12_000026"	"g.120478830C>T"	""	"{PMID:Wang 2019:31299183}"	""	"TSPAN12 285+1G�>�A, IVS4 ds G-A +1"	""	"Germline"	"?"	""	"0"	""	""	"g.120838776C>T"	""	"likely pathogenic"	""
"0000811588"	"0"	"70"	"7"	"120446747"	"120446747"	"subst"	"0"	"00000"	"TSPAN12_000050"	"g.120446747C>T"	""	"{PMID:Wang 2019:31299183}"	""	"TSPAN12 469-1G?>?A, IVS6 ds G-A ?1"	""	"Germline/De novo (untested)"	"?"	""	"0"	""	""	"g.120806693C>T"	""	"likely pathogenic"	""
"0000811589"	"0"	"70"	"7"	"120478967"	"120478967"	"subst"	"0"	"00000"	"TSPAN12_000053"	"g.120478967C>T"	""	"{PMID:Wang 2019:31299183}"	""	"TSPAN12 150-1G?>?A, IVS3 ds G-A ?1"	""	"Germline"	"?"	""	"0"	""	""	"g.120838913C>T"	""	"likely pathogenic"	""
"0000811590"	"0"	"70"	"7"	"120446739"	"120446739"	"subst"	"0"	"00000"	"TSPAN12_000077"	"g.120446739C>T"	""	"{PMID:Wang 2019:31299183}"	""	"TSPAN12 476G?>?A, Cys159Tyr"	""	"Germline/De novo (untested)"	"?"	""	"0"	""	""	"g.120806685C>T"	""	"likely pathogenic"	""
"0000811591"	"0"	"70"	"7"	"120478904"	"120478904"	"subst"	"0"	"00000"	"TSPAN12_000085"	"g.120478904C>A"	""	"{PMID:Wang 2019:31299183}"	""	"TSPAN12 212G?>?T, Cys71Phe"	""	"Germline"	"?"	""	"0"	""	""	"g.120838850C>A"	""	"likely pathogenic"	""
"0000811592"	"0"	"70"	"7"	"120446615"	"120446615"	"del"	"0"	"00000"	"TSPAN12_000020"	"g.120446615del"	""	"{PMID:Wang 2019:31299183}"	""	"TSPAN12 601del, Leu201fs"	""	"Germline"	"?"	""	"0"	""	""	"g.120806561del"	""	"likely pathogenic"	""
"0000811593"	"0"	"70"	"7"	"120496816"	"120496816"	"subst"	"0"	"00000"	"TSPAN12_000054"	"g.120496816A>G"	""	"{PMID:Wang 2019:31299183}"	""	"TSPAN12 2T?>?C, Met1Thr"	""	"Germline/De novo (untested)"	"?"	""	"0"	""	""	"g.120856762A>G"	""	"likely pathogenic"	""
"0000811594"	"0"	"70"	"7"	"120455859"	"120455859"	"subst"	"0"	"00000"	"TSPAN12_000083"	"g.120455859T>G"	""	"{PMID:Wang 2019:31299183}"	""	"TSPAN12 286-2A?>?C, -"	""	"Germline/De novo (untested)"	"?"	""	"0"	""	""	"g.120815805T>G"	""	"likely pathogenic"	""
"0000811595"	"0"	"70"	"7"	"120428845"	"120428845"	"del"	"0"	"00000"	"TSPAN12_000073"	"g.120428845del"	""	"{PMID:Wang 2019:31299183}"	""	"TSPAN12 719del, Leu240Profs*21"	""	"Germline"	"?"	""	"0"	""	""	"g.120788791del"	""	"likely pathogenic"	""
"0000811687"	"11"	"70"	"7"	"120450524"	"120450524"	"subst"	"0"	"00000"	"TSPAN12_000078"	"g.120450524T>G"	""	"{PMID:Chen 2019:31237656}"	""	"716T>C, Leu239Pro"	""	"Germline"	"yes"	""	"0"	""	""	"g.120810470T>G"	""	"likely pathogenic"	""
"0000811688"	"0"	"70"	"7"	"120450524"	"120450524"	"subst"	"0"	"00000"	"TSPAN12_000078"	"g.120450524T>G"	""	"{PMID:Chen 2019:31237656}"	""	"716T>C, Leu239Pro"	""	"Germline"	"yes"	""	"0"	""	""	"g.120810470T>G"	""	"likely pathogenic"	""
"0000811689"	"11"	"70"	"7"	"120496765"	"120496765"	"subst"	"8.12137E-6"	"00000"	"TSPAN12_000087"	"g.120496765T>C"	""	"{PMID:Chen 2019:31237656}"	""	"461A>C, Gln154Pro"	""	"Germline"	"yes"	""	"0"	""	""	"g.120856711T>C"	""	"likely pathogenic"	""
"0000811690"	"0"	"70"	"7"	"120496765"	"120496765"	"subst"	"8.12137E-6"	"00000"	"TSPAN12_000087"	"g.120496765T>C"	""	"{PMID:Chen 2019:31237656}"	""	"461A>C, Gln154Pro"	""	"Germline"	"yes"	""	"0"	""	""	"g.120856711T>C"	""	"likely pathogenic"	""
"0000811691"	"0"	"70"	"7"	"120450536"	"120450536"	"subst"	"0"	"00000"	"TSPAN12_000079"	"g.120450536C>G"	""	"{PMID:Chen 2019:31237656}"	""	"53A>G, Asn18Ser"	""	"Germline"	"?"	""	"0"	""	""	"g.120810482C>G"	""	"likely pathogenic"	""
"0000811792"	"0"	"70"	"7"	"120428849"	"120428849"	"subst"	"0"	"00000"	"TSPAN12_000074"	"g.120428849T>A"	""	"{PMID:Tian 2019:31169861}"	""	"c.715A>T; p.I239Fa"	""	"Germline/De novo (untested)"	"?"	""	"0"	""	""	"g.120788795T>A"	""	"likely pathogenic"	""
"0000811793"	"0"	"70"	"7"	"120428602"	"120428602"	"subst"	"8.58166E-5"	"00000"	"TSPAN12_000072"	"g.120428602G>A"	""	"{PMID:Tian 2019:31169861}"	""	"c.*44C>T"	""	"Germline/De novo (untested)"	"?"	""	"0"	""	""	"g.120788548G>A"	""	"likely pathogenic"	""
"0000812515"	"0"	"90"	"7"	"120446697"	"120446697"	"del"	"0"	"00000"	"TSPAN12_000076"	"g.120446697del"	""	"{PMID:Wang 2019:31106028}"	""	"c.518del, p.(Glu173Glyfs*42)"	"compound heterozygous"	"Germline"	"yes"	""	"0"	""	""	"g.120806643del"	""	"pathogenic"	""
"0000812562"	"0"	"90"	"7"	"120450610"	"120450610"	"subst"	"0"	"00000"	"TSPAN12_000080"	"g.120450610C>T"	""	"{PMID:Wang 2019:31106028}"	""	"c.375C>T, p.(Trp125*)"	"error in annotation: c.375C>T instead of G>A, heterozygous"	"Germline"	"yes"	""	"0"	""	""	"g.120810556C>T"	""	"pathogenic"	""
"0000812582"	"0"	"70"	"7"	"120478923"	"120478923"	"subst"	"0"	"00000"	"TSPAN12_000086"	"g.120478923G>A"	""	"{PMID:Wang 2019:31106028}"	""	"c.193G>A, p.(Pro65Ser)"	"error in annotation: c.193G>A instead of C>T, heterozygous"	"Germline"	"yes"	""	"0"	""	""	"g.120838869G>A"	""	"likely pathogenic"	""
"0000812616"	"0"	"90"	"7"	"120428845"	"120428845"	"del"	"0"	"00000"	"TSPAN12_000073"	"g.120428845del"	""	"{PMID:Wang 2019:31106028}"	""	"c.719del, p.(Leu240Profs*21)"	"heterozygous"	"Germline"	"yes"	""	"0"	""	""	"g.120788791del"	""	"pathogenic"	""
"0000812627"	"0"	"70"	"7"	"120478904"	"120478904"	"subst"	"0"	"00000"	"TSPAN12_000085"	"g.120478904C>A"	""	"{PMID:Wang 2019:31106028}"	""	"c.212C>A, p.(Cys71Phe)"	"error in annotation: c.212C>A instead of G>T, heterozygous"	"Germline"	"yes"	""	"0"	""	""	"g.120838850C>A"	""	"likely pathogenic"	""
"0000812634"	"0"	"90"	"7"	"0"	"0"	""	"0"	"00000"	"EZH2_000001"	"g.?"	""	"{PMID:Wang 2019:31106028}"	""	"c.171_172ins, p.(Thr58Tyrfs*59)"	"error in annotation: inserted nucleotides not written, heterozygous"	"Germline"	"yes"	""	"0"	""	""	"g.?"	""	"pathogenic"	""
"0000812669"	"0"	"90"	"7"	"120455779"	"120455779"	"subst"	"0"	"00000"	"TSPAN12_000081"	"g.120455779T>C"	""	"{PMID:Wang 2019:31106028}"	""	"c.360+4T>C, p.?"	"error in annotation: c.360+4T>C  instead of A>G, heterozygous"	"Germline"	"?"	""	"0"	""	""	"g.120815725T>C"	""	"pathogenic"	""
"0000812688"	"0"	"50"	"7"	"120450536"	"120450536"	"subst"	"0"	"00000"	"TSPAN12_000079"	"g.120450536C>G"	""	"{PMID:Wang 2019:31106028}"	""	"c.449C>G, p.(Trp150Ser)"	"error in annotation: c.449C>G instead of G>C, heterozygous"	"Germline"	"?"	""	"0"	""	""	"g.120810482C>G"	""	"VUS"	""
"0000812715"	"0"	"90"	"7"	"120446613"	"120446613"	"del"	"0"	"00000"	"TSPAN12_000075"	"g.120446613del"	""	"{PMID:Wang 2019:31106028}"	""	"c.602del, p.(Leu201Phefs*14)"	"error in annotation: c.602del (c.604del) causes p.(Tyr202Ilefs*13) and not p.(Leu201Phefs*14), heterozygous"	"Germline"	"?"	""	"0"	""	""	"g.120806559del"	""	"pathogenic"	""
"0000812734"	"0"	"90"	"7"	"120478885"	"120478885"	"del"	"0"	"00000"	"TSPAN12_000062"	"g.120478885del"	""	"{PMID:Wang 2019:31106028}"	""	"c.234del, p.(Met79Cysfs*2)"	"heterozygous"	"Germline"	"?"	""	"0"	""	""	"g.120838831del"	""	"pathogenic"	""
"0000812736"	"0"	"70"	"7"	"120478863"	"120478863"	"subst"	"0"	"00000"	"TSPAN12_000084"	"g.120478863T>G"	""	"{PMID:Wang 2019:31106028}"	""	"c.253A>C, p.(Thr85Pro)"	"error in annotation: c.253T>G instead of A>C, heterozygous"	"Germline"	"yes"	""	"0"	""	""	"g.120838809T>G"	""	"likely pathogenic"	""
"0000812758"	"0"	"70"	"7"	"120446739"	"120446739"	"subst"	"0"	"00000"	"TSPAN12_000077"	"g.120446739C>T"	""	"{PMID:Wang 2019:31106028}"	""	"c.476C>T, p.(Cys159Tyr)"	"error in annotation: c.476C>T instead of G>A, heterozygous"	"Germline"	"yes"	""	"0"	""	""	"g.120806685C>T"	""	"likely pathogenic"	""
"0000812828"	"0"	"70"	"7"	"120478863"	"120478863"	"subst"	"0"	"00000"	"TSPAN12_000084"	"g.120478863T>G"	""	"{PMID:Wang 2019:31106028}"	""	"c.253T>G, p.(Thr85Pro)"	"error in annotation: c.253T>G instead of A>C, heterozygous"	"Germline"	"yes"	""	"0"	""	""	"g.120838809T>G"	""	"likely pathogenic"	""
"0000812835"	"0"	"70"	"7"	"120450524"	"120450524"	"subst"	"0"	"00000"	"TSPAN12_000078"	"g.120450524T>G"	""	"{PMID:Wang 2019:31106028}"	""	"c.461T>G, p.(Gln154Pro)"	"error in annotation: c.461T>G instead of A>C, heterozygous"	"Germline"	"?"	""	"0"	""	""	"g.120810470T>G"	""	"likely pathogenic"	""
"0000814893"	"0"	"70"	"7"	"120455859"	"120455859"	"subst"	"0"	"00000"	"TSPAN12_000083"	"g.120455859T>G"	""	"{PMID:Chen 2020:31987760}"	""	"286-2A>C, -"	""	"Germline"	"yes"	""	"0"	""	""	"g.120815805T>G"	""	"likely pathogenic"	""
"0000814894"	"0"	"70"	"7"	"120480084"	"120480084"	"subst"	"4.07724E-6"	"00000"	"TSPAN12_000029"	"g.120480084G>A"	""	"{PMID:Chen 2020:31987760}"	""	"146C>T, Thr49Met"	""	"Germline"	"yes"	""	"0"	""	""	"g.120840030G>A"	""	"likely pathogenic"	""
"0000814895"	"0"	"70"	"7"	"120428845"	"120428845"	"del"	"0"	"00000"	"TSPAN12_000073"	"g.120428845del"	""	"{PMID:Chen 2020:31987760}"	""	"719delT, Leu240Profs*21"	""	"Germline"	"yes"	""	"0"	""	""	"g.120788791del"	""	"likely pathogenic"	""
"0000814896"	"0"	"70"	"7"	"120446615"	"120446615"	"del"	"0"	"00000"	"TSPAN12_000020"	"g.120446615del"	""	"{PMID:Chen 2020:31987760}"	""	"601delC, Leu201Phefs*14"	""	"Germline"	"yes"	""	"0"	""	""	"g.120806561del"	""	"likely pathogenic"	""
"0000814897"	"0"	"70"	"7"	"120428950"	"120428950"	"subst"	"0"	"00000"	"TSPAN12_000088"	"g.120428950C>G"	""	"{PMID:Chen 2020:31987760}"	""	"614G>C, Gly205Ala"	""	"Germline"	"yes"	""	"0"	""	""	"g.120788896C>G"	""	"likely pathogenic"	""
"0000814898"	"0"	"70"	"7"	"120455791"	"120455791"	"subst"	"0"	"00000"	"TSPAN12_000090"	"g.120455791C>A"	""	"{PMID:Chen 2020:31987760}"	""	"352G>T, Glu118X"	""	"Germline"	"yes"	""	"0"	""	""	"g.120815737C>A"	""	"likely pathogenic"	""
"0000814899"	"0"	"70"	"7"	"120428830"	"120428830"	"subst"	"4.06339E-6"	"00000"	"TSPAN12_000014"	"g.120428830A>G"	""	"{PMID:Chen 2020:31987760}"	""	"734T>C, Leu245Pro"	""	"Germline"	"yes"	""	"0"	""	""	"g.120788776A>G"	""	"likely pathogenic"	""
"0000814900"	"0"	"70"	"7"	"120428952"	"120428952"	"del"	"0"	"00000"	"TSPAN12_000089"	"g.120428952del"	""	"{PMID:Chen 2020:31987760}"	""	"614delG, Gly205Valfs"	""	"Germline"	"yes"	""	"0"	""	""	"g.120788898del"	""	"likely pathogenic"	""
"0000818240"	"10"	"90"	"7"	"120455798"	"120455798"	"subst"	"0"	"00000"	"TSPAN12_000092"	"g.120455798A>C"	""	"{PMID:Rao 2017:28494495}"	""	"c.345T>G"	""	"Germline"	""	""	"0"	""	""	""	""	"pathogenic"	""
"0000818241"	"10"	"90"	"7"	"120455798"	"120455798"	"subst"	"0"	"00000"	"TSPAN12_000092"	"g.120455798A>C"	""	"{PMID:Rao 2017:28494495}"	""	"c.345T>G"	""	"Germline"	""	""	"0"	""	""	""	""	"pathogenic"	""
"0000818571"	"21"	"90"	"7"	"120446698"	"120446699"	"del"	"0"	"00000"	"TSPAN12_000091"	"g.120446698_120446699del"	""	"{PMID:Wang 2021:32238352}"	""	"c.519_520del, p.E173Dfs*11"	"retrospective study, duplicates plausible"	"Germline"	"yes"	""	"0"	""	""	"g.120806644_120806645del"	""	"pathogenic"	"ACMG"
"0000818572"	"0"	"90"	"7"	"120446698"	"120446699"	"del"	"0"	"00000"	"TSPAN12_000091"	"g.120446698_120446699del"	""	"{PMID:Wang 2021:32238352}"	""	"c.519_520del, p.E173Dfs*11"	"retrospective study, duplicates plausible"	"Germline"	"yes"	""	"0"	""	""	"g.120806644_120806645del"	""	"pathogenic"	"ACMG"
"0000821401"	"0"	"70"	"7"	"120478891"	"120478893"	"del"	"0"	"00000"	"TSPAN12_000047"	"g.120478891_120478893del"	""	"{PMID:Turro 2020:32581362}"	""	"TSPAN12 c.225_227delCAT, p.Ile76del"	"heterozygous"	"Germline/De novo (untested)"	"?"	""	"0"	""	""	"g.120838837_120838839del"	""	"likely pathogenic"	""
"0000823629"	"21"	"50"	"7"	"120478922"	"120478922"	"subst"	"8.12988E-6"	"00000"	"TSPAN12_000063"	"g.120478922G>A"	""	"{PMID:Li 2020:32884843}"	""	"TPSAN12 c.194C>T, p.P65L"	"heterozygous"	"Germline"	"yes"	""	"0"	""	""	"g.120838868G>A"	""	"VUS"	"ACMG"
"0000826087"	"0"	"70"	"7"	"120478922"	"120478922"	"subst"	"8.12988E-6"	"00000"	"TSPAN12_000063"	"g.120478922G>A"	""	"{PMID:Liu-2020:33090715}"	""	"c.194C>T"	""	"Germline"	""	""	"0"	""	""	""	""	"likely pathogenic (dominant)"	""
"0000872780"	"21"	"90"	"7"	"120450551"	"120450551"	"subst"	"0"	"00000"	"TSPAN12_000093"	"g.120450551C>T"	""	"{PMID:Chan 2016:27639845}"	""	"c.434G>A:Trp145X"	""	"Germline"	""	""	"0"	""	""	""	""	"pathogenic"	""
"0000878243"	"0"	"90"	"7"	"120427374"	"120498177"	"del"	"0"	"00006"	"TSPAN12_000097"	"g.(?_120427374)_(120498177_?)del"	""	"{PMID:Miller 2015:25828824}"	""	"7q22 gene deletion"	""	"Germline/De novo (untested)"	""	""	"0"	""	""	"g.(?_120787320)_(120858123_?)del"	""	"pathogenic (dominant)"	""
"0000878244"	"0"	"90"	"7"	"120480165"	"120480165"	"subst"	"0"	"00006"	"TSPAN12_000056"	"g.120480165T>C"	""	"{PMID:Amorelli 2019:31431934}"	""	"IVS2 c.67-2A>G"	""	"Germline/De novo (untested)"	""	""	"0"	""	""	""	""	"pathogenic (dominant)"	""
"0000887574"	"0"	"90"	"7"	"120428863"	"120428863"	"dup"	"0"	"02327"	"TSPAN12_000098"	"g.120428863dup"	""	""	""	""	"VKGL data sharing initiative Nederland"	"CLASSIFICATION record"	""	""	""	""	""	""	""	"pathogenic"	""
"0000887575"	"0"	"30"	"7"	"120450618"	"120450618"	"subst"	"0.000455262"	"02330"	"TSPAN12_000017"	"g.120450618C>G"	""	""	""	"TSPAN12(NM_012338.3):c.367G>C (p.V123L), TSPAN12(NM_012338.4):c.367G>C (p.V123L)"	"VKGL data sharing initiative Nederland"	"CLASSIFICATION record"	""	""	""	""	""	""	""	"likely benign"	""
"0000948815"	"0"	"30"	"7"	"120428732"	"120428732"	"subst"	"4.47369E-5"	"02330"	"TSPAN12_000099"	"g.120428732G>T"	""	""	""	"TSPAN12(NM_012338.4):c.832C>A (p.L278M)"	"VKGL data sharing initiative Nederland"	"CLASSIFICATION record"	""	""	""	""	""	""	""	"likely benign"	""
"0000954796"	"11"	"50"	"7"	"120478922"	"120478922"	"subst"	"8.12988E-6"	"00006"	"TSPAN12_000063"	"g.120478922G>A"	""	"{PMID:Fan 2020:32883240}"	""	""	"variant in unaffected father"	"Germline"	""	""	"0"	""	""	"g.120838868G>A"	""	"VUS"	""


## 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 TSPAN12
## Count = 163
"{{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}}"
"0000309713"	"00021965"	"30"	"67"	"-3"	"67"	"-3"	"c.67-3C>T"	"r.spl?"	"p.?"	""
"0000312105"	"00021965"	"10"	"765"	"0"	"765"	"0"	"c.765G>T"	"r.(?)"	"p.(Pro255=)"	""
"0000317980"	"00021965"	"30"	"361"	"-15"	"361"	"-9"	"c.361-15_361-9del"	"r.(=)"	"p.(=)"	""
"0000337044"	"00021965"	"10"	"361"	"-34"	"361"	"-34"	"c.361-34C>T"	"r.(=)"	"p.(=)"	""
"0000337045"	"00021965"	"70"	"66"	"1"	"66"	"1"	"c.66+1G>A"	"r.spl?"	"p.?"	""
"0000344228"	"00021965"	"90"	"315"	"0"	"315"	"0"	"c.315T>A"	"r.(?)"	"p.(Cys105Ter)"	""
"0000348321"	"00021965"	"10"	"765"	"0"	"765"	"0"	"c.765G>T"	"r.(?)"	"p.(Pro255=)"	""
"0000350147"	"00021965"	"50"	"175"	"0"	"175"	"0"	"c.175T>G"	"r.(?)"	"p.(Tyr59Asp)"	""
"0000350860"	"00021965"	"10"	"957"	"0"	"957"	"0"	"c.*39C>T"	"r.(=)"	"p.(=)"	""
"0000358344"	"00021965"	"70"	"542"	"0"	"542"	"0"	"c.542G>T"	"r.(?)"	"p.(Cys181Phe)"	"6"
"0000530584"	"00021965"	"10"	"868"	"0"	"868"	"0"	"c.868A>G"	"r.(?)"	"p.(Thr290Ala)"	""
"0000530585"	"00021965"	"10"	"612"	"11"	"612"	"11"	"c.612+11A>G"	"r.(=)"	"p.(=)"	""
"0000597148"	"00021965"	"90"	"734"	"0"	"734"	"0"	"c.734T>C"	"r.(?)"	"p.(Leu245Pro)"	""
"0000597153"	"00021965"	"90"	"734"	"0"	"734"	"0"	"c.734T>C"	"r.(?)"	"p.(Leu245Pro)"	""
"0000597154"	"00021965"	"90"	"734"	"0"	"734"	"0"	"c.734T>C"	"r.(?)"	"p.(Leu245Pro)"	""
"0000597155"	"00021965"	"90"	"419"	"0"	"419"	"0"	"c.419T>A"	"r.(?)"	"p.(Leu140*)"	""
"0000610654"	"00021965"	"50"	"875"	"0"	"875"	"0"	"c.875T>C"	"r.(?)"	"p.(Met292Thr)"	""
"0000610655"	"00021965"	"30"	"367"	"0"	"367"	"0"	"c.367G>C"	"r.(?)"	"p.(Val123Leu)"	""
"0000624829"	"00021965"	"90"	"419"	"0"	"419"	"0"	"c.419T>A"	"r.(?)"	"p.(Leu140*)"	""
"0000626220"	"00021965"	"90"	"709"	"0"	"709"	"0"	"c.709G>C"	"r.(?)"	"p.(Ala237Pro)"	"8"
"0000626221"	"00021965"	"90"	"709"	"0"	"709"	"0"	"c.709G>C"	"r.(?)"	"p.(Ala237Pro)"	"8"
"0000626222"	"00021965"	"90"	"709"	"0"	"709"	"0"	"c.709G>C"	"r.(?)"	"p.(Ala237Pro)"	"8"
"0000626223"	"00021965"	"90"	"709"	"0"	"709"	"0"	"c.709G>C"	"r.(?)"	"p.(Ala237Pro)"	"8"
"0000626224"	"00021965"	"70"	"562"	"0"	"562"	"0"	"c.562G>C"	"r.(?)"	"p.(Gly188Arg)"	""
"0000626389"	"00021965"	"90"	"212"	"0"	"218"	"0"	"c.212_218dup"	"r.(?)"	"p.(Phe73Leufs*46)"	"4"
"0000626390"	"00021965"	"90"	"212"	"0"	"218"	"0"	"c.212_218dup"	"r.(?)"	"p.(Phe73Leufs*46)"	"4"
"0000626391"	"00021965"	"90"	"419"	"0"	"419"	"0"	"c.419T>A"	"r.(?)"	"p.(Leu140*)"	"6"
"0000626392"	"00021965"	"90"	"68"	"0"	"68"	"0"	"c.68T>G"	"r.(?)"	"p.(Leu23*)"	"3"
"0000626393"	"00021965"	"90"	"361"	"-5"	"361"	"-1"	"c.361-5_361-1del"	"r.spl"	"p.?"	"5i"
"0000626394"	"00021965"	"70"	"149"	"3"	"149"	"3"	"c.149+3A>G"	"r.spl?"	"p.?"	"4i"
"0000626395"	"00021965"	"70"	"302"	"0"	"302"	"0"	"c.302T>A"	"r.(?)"	"p.(Leu101His)"	"5"
"0000626396"	"00021965"	"70"	"629"	"0"	"629"	"0"	"c.629T>G"	"r.(?)"	"p.(Met210Arg)"	"8"
"0000626397"	"00021965"	"90"	"413"	"0"	"413"	"0"	"c.413A>G"	"r.(?)"	"p.(Tyr138Cys)"	"6"
"0000626398"	"00021965"	"90"	"413"	"0"	"413"	"0"	"c.413A>G"	"r.(?)"	"p.(Tyr138Cys)"	"6"
"0000626399"	"00021965"	"90"	"668"	"0"	"668"	"0"	"c.668T>C"	"r.(?)"	"p.(Leu223Pro)"	""
"0000626400"	"00021965"	"90"	"67"	"-1"	"67"	"-1"	"c.67-1G>C"	"r.spl"	"p.Leu23Glyfs*66"	"2i"
"0000626401"	"00021965"	"90"	"67"	"-1"	"67"	"-1"	"c.67-1G>C"	"r.spl"	"p.Leu23Glyfs*66"	"2i"
"0000626402"	"00021965"	"90"	"146"	"0"	"146"	"0"	"c.146C>T"	"r.(?)"	"p.(Thr49Met)"	"3"
"0000626403"	"00021965"	"50"	"285"	"1"	"285"	"1"	"c.285+1G>A"	"r.spl"	"p.?"	"4_"
"0000626405"	"00021965"	"50"	"484"	"0"	"484"	"0"	"c.484G>A"	"r.(?)"	"p.(Val162Ile)"	""
"0000626406"	"00021965"	"50"	"56"	"0"	"56"	"0"	"c.56T>G"	"r.(?)"	"p.(Leu19Arg)"	""
"0000626407"	"00021965"	"90"	"146"	"0"	"146"	"0"	"c.146C>T"	"r.(?)"	"p.(Thr49Met)"	""
"0000626408"	"00021965"	"90"	"313"	"0"	"313"	"0"	"c.313T>C"	"r.(?)"	"p.(Cys105Arg)"	""
"0000626409"	"00021965"	"90"	"601"	"0"	"601"	"0"	"c.601del"	"r.(?)"	"p.(Leu201Phefs*14)"	""
"0000629524"	"00021965"	"90"	"566"	"0"	"566"	"0"	"c.566G>A"	"r.(?)"	"p.(Cys189Tyr)"	"7"
"0000629525"	"00021965"	"90"	"177"	"0"	"177"	"0"	"c.177del"	"r.(?)"	"p.(Tyr59fs*67)"	"4"
"0000629526"	"00021965"	"90"	"254"	"0"	"254"	"0"	"c.254C>T"	"r.(?)"	"p.(Thr85Met)"	""
"0000629527"	"00021965"	"90"	"542"	"0"	"542"	"0"	"c.542G>T"	"r.(?)"	"p.(Cys181Phe)"	""
"0000629528"	"00021965"	"90"	"542"	"0"	"542"	"0"	"c.542G>T"	"r.(?)"	"p.(Cys181Phe)"	""
"0000629545"	"00021965"	"90"	"1"	"0"	"1"	"0"	"c.1A>G"	"r.(?)"	"p.0?"	"2"
"0000629679"	"00021965"	"50"	"346"	"0"	"346"	"0"	"c.346G>A"	"r.(?)"	"p.(Glu116Lys)"	"5"
"0000629683"	"00021965"	"30"	"765"	"0"	"765"	"0"	"c.765G>T"	"r.(?)"	"p.(Pro255=)"	"8"
"0000644083"	"00021965"	"70"	"149"	"3"	"149"	"3"	"c.149+3A>G"	"r.spl?"	"p.?"	""
"0000644109"	"00021965"	"70"	"149"	"3"	"149"	"3"	"c.149+3A>G"	"r.spl?"	"p.?"	""
"0000644110"	"00021965"	"70"	"149"	"3"	"149"	"3"	"c.149+3A>G"	"r.spl?"	"p.?"	""
"0000644111"	"00021965"	"90"	"1"	"0"	"1"	"0"	"c.1A>G"	"r.?"	"p.?"	"2"
"0000644112"	"00021965"	"90"	"1"	"0"	"1"	"0"	"c.1A>G"	"r.?"	"p.?"	"2"
"0000644113"	"00021965"	"90"	"1"	"0"	"1"	"0"	"c.1A>G"	"r.?"	"p.?"	"2"
"0000644114"	"00021965"	"90"	"614"	"0"	"614"	"0"	"c.614G>A"	"r.(?)"	"p.(Gly205Asp)"	"8"
"0000644115"	"00021965"	"90"	"614"	"0"	"614"	"0"	"c.614G>A"	"r.(?)"	"p.(Gly205Asp)"	"8"
"0000644116"	"00021965"	"90"	"695"	"0"	"695"	"0"	"c.695del"	"r.(?)"	"p.(Val232Glyfs*7)"	"8"
"0000644117"	"00021965"	"90"	"695"	"0"	"695"	"0"	"c.695del"	"r.(?)"	"p.(Val232Glyfs*7)"	"8"
"0000644118"	"00021965"	"90"	"833"	"0"	"842"	"0"	"c.833_842del"	"r.(?)"	"p.(Leu278Glnfs*45)"	"8"
"0000644119"	"00021965"	"90"	"833"	"0"	"842"	"0"	"c.833_842del"	"r.(?)"	"p.(Leu278Glnfs*45)"	"8"
"0000644120"	"00021965"	"90"	"833"	"0"	"842"	"0"	"c.833_842del"	"r.(?)"	"p.(Leu278Glnfs*45)"	"8"
"0000655728"	"00021965"	"30"	"833"	"0"	"833"	"0"	"c.833T>C"	"r.(?)"	"p.(Leu278Pro)"	""
"0000713383"	"00021965"	"90"	"225"	"0"	"227"	"0"	"c.225_227del"	"r.(?)"	"p.(Ile76del)"	""
"0000713949"	"00021965"	"90"	"851"	"0"	"851"	"0"	"c.851C>T"	"r.(?)"	"p.(Ser284Leu)"	""
"0000713950"	"00021965"	"90"	"599"	"0"	"599"	"0"	"c.599A>G"	"r.(?)"	"p.(Asp200Gly)"	""
"0000731196"	"00021965"	"90"	"2"	"0"	"2"	"0"	"c.2T>C"	"r.(?)"	"p.(Met1?)"	""
"0000731197"	"00021965"	"90"	"464"	"0"	"464"	"0"	"c.464G>C"	"r.(?)"	"p.(Arg155Thr)"	""
"0000731198"	"00021965"	"90"	"438"	"0"	"438"	"0"	"c.438dup"	"r.(?)"	"p.(Thr147Tyrfs*12)"	""
"0000731199"	"00021965"	"90"	"655"	"0"	"655"	"0"	"c.655del"	"r.(?)"	"p.(Gln219Asnfs*5)"	""
"0000731200"	"00021965"	"90"	"916"	"0"	"921"	"0"	"c.916_*3del"	"r.(?)"	"p.(*306Gluext*34)"	""
"0000731203"	"00021965"	"90"	"150"	"-1"	"150"	"-1"	"c.150-1G>A"	"r.spl"	"p.?"	""
"0000731204"	"00021965"	"90"	"285"	"1"	"285"	"1"	"c.285+1G>A"	"r.spl"	"p.?"	""
"0000731205"	"00021965"	"90"	"469"	"-1"	"469"	"-1"	"c.469-1G>A"	"r.spl"	"p.?"	""
"0000732530"	"00021965"	"90"	"0"	"0"	"0"	"0"	"c.(612+1_613-1)_*1272{0}"	"r.?"	"p.?"	"7i_8_"
"0000732532"	"00021965"	"90"	"806"	"0"	"806"	"0"	"c.806A>T"	"r.(?)"	"p.(Gln269Leu)"	""
"0000732661"	"00021965"	"70"	"67"	"-2"	"67"	"-2"	"c.67-2A>G"	"r.spl"	"p.?"	""
"0000735800"	"00021965"	"90"	"565"	"0"	"565"	"0"	"c.565T>C"	"r.(?)"	"p.(Cys189Arg)"	""
"0000735804"	"00021965"	"90"	"565"	"0"	"565"	"0"	"c.565T>C"	"r.(?)"	"p.(Cys189Arg)"	""
"0000735807"	"00021965"	"90"	"286"	"-2"	"286"	"-2"	"c.286-2A>G"	"r.spl"	"p.?"	"4i"
"0000735816"	"00021965"	"90"	"423"	"0"	"423"	"0"	"c.423delT"	"r.(?)"	"p.(Arg142Aspfs*21)"	""
"0000760117"	"00021965"	"90"	"125"	"0"	"125"	"0"	"c.125T>C"	"r.(?)"	"p.(Val42Ala)"	"3"
"0000760118"	"00021965"	"90"	"479"	"0"	"479"	"0"	"c.479G>A"	"r.(?)"	"p.(Cys160Tyr)"	"7"
"0000760119"	"00021965"	"90"	"479"	"0"	"479"	"0"	"c.479G>A"	"r.(?)"	"p.(Cys160Tyr)"	"7"
"0000760120"	"00021965"	"90"	"479"	"0"	"479"	"0"	"c.479G>A"	"r.(?)"	"p.(Cys160Tyr)"	"7"
"0000760121"	"00021965"	"90"	"479"	"0"	"479"	"0"	"c.479G>A"	"r.(?)"	"p.(Cys160Tyr)"	"7"
"0000760122"	"00021965"	"90"	"334"	"0"	"334"	"0"	"c.334G>A"	"r.(?)"	"p.(Val112Ile)"	"5"
"0000765446"	"00021965"	"90"	"234"	"0"	"234"	"0"	"c.234del"	"r.(?)"	"p.(Met79CysfsTer2)"	""
"0000766016"	"00021965"	"70"	"56"	"0"	"56"	"0"	"c.56T>G"	"r.(?)"	"p.(Leu19Arg)"	""
"0000766020"	"00021965"	"50"	"194"	"0"	"194"	"0"	"c.194C>T"	"r.(?)"	"p.(Pro65Leu)"	""
"0000766021"	"00021965"	"30"	"484"	"0"	"484"	"0"	"c.484G>A"	"r.(?)"	"p.(Val162Ile)"	""
"0000766022"	"00021965"	"30"	"484"	"0"	"484"	"0"	"c.484G>A"	"r.(?)"	"p.(Val162Ile)"	""
"0000785502"	"00021965"	"90"	"581"	"0"	"581"	"0"	"c.581delA"	"r.(?)"	"p.(His194ProfsTer21)"	""
"0000785503"	"00021965"	"90"	"581"	"0"	"581"	"0"	"c.581delA"	"r.(?)"	"p.(His194ProfsTer21)"	""
"0000785504"	"00021965"	"90"	"601"	"0"	"601"	"0"	"c.601delC"	"r.(?)"	"p.(Leu201PhefsTer14)"	""
"0000785505"	"00021965"	"90"	"612"	"1"	"612"	"1"	"c.612+1G>A"	"r.spl"	"p.?"	""
"0000785506"	"00021965"	"90"	"149"	"1"	"149"	"1"	"c.149+1G>A"	"r.spl"	"p.?"	""
"0000785507"	"00021965"	"90"	"149"	"1"	"149"	"1"	"c.149+1G>A"	"r.spl"	"p.?"	""
"0000785508"	"00021965"	"90"	"308"	"0"	"308"	"0"	"c.308T>C"	"r.(?)"	"p.(Ile103Thr)"	""
"0000785510"	"00021965"	"90"	"440"	"0"	"440"	"0"	"c.440C>A"	"r.(?)"	"p.(Thr147Asn)"	""
"0000788462"	"00021965"	"50"	"274"	"0"	"274"	"0"	"c.274C>T"	"r.(?)"	"p.(Leu92Phe)"	"4"
"0000793844"	"00021965"	"70"	"851"	"0"	"851"	"0"	"c.851C>T"	"r.(?)"	"p.(Ser284Leu)"	"9"
"0000793845"	"00021965"	"70"	"599"	"0"	"599"	"0"	"c.599A>G"	"r.(?)"	"p.(Asp200Gly)"	"8"
"0000795600"	"00021965"	"50"	"194"	"0"	"194"	"0"	"c.194C>T"	"r.(?)"	"p.(Pro65Leu)"	"4"
"0000795601"	"00021965"	"50"	"535"	"0"	"535"	"0"	"c.535G>T"	"r.(?)"	"p.(Asp179Tyr)"	"7"
"0000797418"	"00021965"	"70"	"361"	"-2"	"361"	"-2"	"c.361-2A>G"	"r.spl"	"p.(?)"	""
"0000811585"	"00021965"	"70"	"286"	"-1"	"286"	"-1"	"c.286-1G>T"	"r.spl"	"p.(?)"	"5"
"0000811586"	"00021965"	"70"	"286"	"-1"	"286"	"-1"	"c.286-1G>T"	"r.spl"	"p.(?)"	"5"
"0000811587"	"00021965"	"70"	"285"	"1"	"285"	"1"	"c.285+1G>A"	"r.spl"	"p.(?)"	"4i"
"0000811588"	"00021965"	"70"	"469"	"-1"	"469"	"-1"	"c.469-1G>A"	"r.spl"	"p.(?)"	"6i"
"0000811589"	"00021965"	"70"	"150"	"-1"	"150"	"-1"	"c.150-1G>A"	"r.spl"	"p.(?)"	"3i"
"0000811590"	"00021965"	"70"	"476"	"0"	"476"	"0"	"c.476G>A"	"r.(?)"	"p.(Cys159Tyr)"	"7"
"0000811591"	"00021965"	"70"	"212"	"0"	"212"	"0"	"c.212G>T"	"r.(?)"	"p.(Cys71Phe)"	"4"
"0000811592"	"00021965"	"70"	"601"	"0"	"601"	"0"	"c.601del"	"r.(?)"	"p.(Leu201Phefs*14)"	"3"
"0000811593"	"00021965"	"70"	"2"	"0"	"2"	"0"	"c.2T>C"	"r.(?)"	"p.(Met1?)"	"2"
"0000811594"	"00021965"	"70"	"286"	"-2"	"286"	"-2"	"c.286-2A>C"	"r.spl"	"p.(?)"	"2"
"0000811595"	"00021965"	"70"	"719"	"0"	"719"	"0"	"c.719del"	"r.(?)"	"p.(Leu240Profs*21)"	"8"
"0000811687"	"00021965"	"70"	"461"	"0"	"461"	"0"	"c.461A>C"	"r.(?)"	"p.(Gln154Pro)"	""
"0000811688"	"00021965"	"70"	"461"	"0"	"461"	"0"	"c.461A>C"	"r.(?)"	"p.(Gln154Pro)"	""
"0000811689"	"00021965"	"70"	"53"	"0"	"53"	"0"	"c.53A>G"	"r.(?)"	"p.(Asn18Ser)"	""
"0000811690"	"00021965"	"70"	"53"	"0"	"53"	"0"	"c.53A>G"	"r.(?)"	"p.(Asn18Ser)"	""
"0000811691"	"00021965"	"70"	"449"	"0"	"449"	"0"	"c.449G>C"	"r.(?)"	"p.(Trp150Ser)"	""
"0000811792"	"00021965"	"70"	"715"	"0"	"715"	"0"	"c.715A>T"	"r.(?)"	"p.(Ile239Phe)"	""
"0000811793"	"00021965"	"70"	"962"	"0"	"962"	"0"	"c.*44C>T"	"r.(?)"	"p.(=)"	""
"0000812515"	"00021965"	"90"	"518"	"0"	"518"	"0"	"c.518del"	"r.(?)"	"p.(Glu173Glyfs*42)"	""
"0000812562"	"00021965"	"90"	"375"	"0"	"375"	"0"	"c.375G>A"	"r.(?)"	"p.(Trp125*)"	""
"0000812582"	"00021965"	"70"	"193"	"0"	"193"	"0"	"c.193C>T"	"r.(?)"	"p.(Pro65Ser)"	""
"0000812616"	"00021965"	"90"	"719"	"0"	"719"	"0"	"c.719del"	"r.(?)"	"p.(Leu240Profs*21)"	""
"0000812627"	"00021965"	"70"	"212"	"0"	"212"	"0"	"c.212G>T"	"r.(?)"	"p.(Cys71Phe)"	""
"0000812634"	"00021965"	"90"	"171"	"0"	"172"	"0"	"c.171_172ins"	"r.(?)"	"p.(Thr58Tyrfs*59)"	""
"0000812669"	"00021965"	"90"	"360"	"4"	"360"	"4"	"c.360+4A>G"	"r.spl?"	"p.(?)"	""
"0000812688"	"00021965"	"50"	"449"	"0"	"449"	"0"	"c.449G>C"	"r.(?)"	"p.(Trp150Ser)"	""
"0000812715"	"00021965"	"90"	"604"	"0"	"604"	"0"	"c.604del"	"r.(?)"	"p.(Tyr202Ilefs*13)"	""
"0000812734"	"00021965"	"90"	"234"	"0"	"234"	"0"	"c.234del"	"r.(?)"	"p.(Met79Cysfs*2)"	""
"0000812736"	"00021965"	"70"	"253"	"0"	"253"	"0"	"c.253A>C"	"r.(?)"	"p.(Thr85Pro)"	""
"0000812758"	"00021965"	"70"	"476"	"0"	"476"	"0"	"c.476G>A"	"r.(?)"	"p.(Cys159Tyr)"	""
"0000812828"	"00021965"	"70"	"253"	"0"	"253"	"0"	"c.253A>C"	"r.(?)"	"p.(Thr85Pro)"	""
"0000812835"	"00021965"	"70"	"461"	"0"	"461"	"0"	"c.461A>C"	"r.(?)"	"p.(Gln154Pro)"	""
"0000814893"	"00021965"	"70"	"286"	"-2"	"286"	"-2"	"c.286-2A>C"	"r.spl"	"p.(?)"	""
"0000814894"	"00021965"	"70"	"146"	"0"	"146"	"0"	"c.146C>T"	"r.(?)"	"p.(Thr49Met)"	""
"0000814895"	"00021965"	"70"	"719"	"0"	"719"	"0"	"c.719delT"	"r.(?)"	"p.(Leu240Profs*21)"	""
"0000814896"	"00021965"	"70"	"601"	"0"	"601"	"0"	"c.601delC"	"r.(?)"	"p.(Leu201Phefs*14)"	""
"0000814897"	"00021965"	"70"	"614"	"0"	"614"	"0"	"c.614G>C"	"r.(?)"	"p.(Gly205Ala)"	""
"0000814898"	"00021965"	"70"	"352"	"0"	"352"	"0"	"c.352G>T"	"r.(?)"	"p.(Glu118*)"	""
"0000814899"	"00021965"	"70"	"734"	"0"	"734"	"0"	"c.734T>C"	"r.(?)"	"p.(Leu245Pro)"	""
"0000814900"	"00021965"	"70"	"614"	"0"	"614"	"0"	"c.614delG"	"r.(?)"	"p.(Gly205Valfs*10)"	""
"0000818240"	"00021965"	"90"	"345"	"0"	"345"	"0"	"c.345T>G"	"r.(?)"	"p.(Tyr115*)"	"6"
"0000818241"	"00021965"	"90"	"345"	"0"	"345"	"0"	"c.345T>G"	"r.(?)"	"p.(Tyr115*)"	"6"
"0000818571"	"00021965"	"90"	"519"	"0"	"520"	"0"	"c.519_520del"	"r.(?)"	"p.(Glu173Aspfs*11)"	""
"0000818572"	"00021965"	"90"	"519"	"0"	"520"	"0"	"c.519_520del"	"r.(?)"	"p.(Glu173Aspfs*11)"	""
"0000821401"	"00021965"	"70"	"225"	"0"	"227"	"0"	"c.225_227del"	"r.(?)"	"p.(Ile76del)"	""
"0000823629"	"00021965"	"50"	"194"	"0"	"194"	"0"	"c.194C>T"	"r.(?)"	"p.(Pro65Leu)"	"4"
"0000826087"	"00021965"	"70"	"194"	"0"	"194"	"0"	"c.194C>T"	"r.(?)"	"p.(Pro65Leu)"	"5"
"0000872780"	"00021965"	"90"	"434"	"0"	"434"	"0"	"c.434G>A"	"r.(?)"	"p.(Trp145*)"	"7"
"0000878243"	"00021965"	"90"	"0"	"0"	"0"	"0"	"c.-374_*1272{0}"	"r.0?"	"c.0?"	"_1_8_"
"0000878244"	"00021965"	"90"	"67"	"-2"	"67"	"-2"	"c.67-2A>G"	"r.spl"	"p.?"	"2i"
"0000887574"	"00021965"	"90"	"703"	"0"	"703"	"0"	"c.703dup"	"r.(?)"	"p.(Ile235Asnfs*17)"	""
"0000887575"	"00021965"	"30"	"367"	"0"	"367"	"0"	"c.367G>C"	"r.(?)"	"p.(Val123Leu)"	""
"0000948815"	"00021965"	"30"	"832"	"0"	"832"	"0"	"c.832C>A"	"r.(?)"	"p.(Leu278Met)"	""
"0000954796"	"00021965"	"50"	"194"	"0"	"194"	"0"	"c.194C>T"	"r.(?)"	"p.(Pro65Leu)"	""


## Screenings_To_Variants ## Do not remove or alter this header ##
## Count = 146
"{{screeningid}}"	"{{variantid}}"
"0000156422"	"0000358344"
"0000266475"	"0000597148"
"0000266492"	"0000597153"
"0000266493"	"0000597154"
"0000266494"	"0000597155"
"0000266763"	"0000624829"
"0000272330"	"0000626220"
"0000272331"	"0000626221"
"0000272332"	"0000626222"
"0000272333"	"0000626223"
"0000272334"	"0000626224"
"0000272463"	"0000626389"
"0000272464"	"0000626390"
"0000272465"	"0000626391"
"0000272466"	"0000626392"
"0000272467"	"0000626393"
"0000272468"	"0000626394"
"0000272469"	"0000626395"
"0000272470"	"0000626396"
"0000272471"	"0000626397"
"0000272472"	"0000626398"
"0000272473"	"0000626399"
"0000272474"	"0000626400"
"0000272475"	"0000626401"
"0000272476"	"0000626402"
"0000272476"	"0000626403"
"0000272480"	"0000626405"
"0000272483"	"0000626406"
"0000272485"	"0000626407"
"0000272486"	"0000626408"
"0000272487"	"0000626409"
"0000275493"	"0000629524"
"0000275494"	"0000629525"
"0000275495"	"0000629526"
"0000275496"	"0000629527"
"0000275497"	"0000629528"
"0000275514"	"0000629545"
"0000275612"	"0000629679"
"0000275614"	"0000629683"
"0000288218"	"0000644083"
"0000288231"	"0000644109"
"0000288232"	"0000644110"
"0000288233"	"0000644111"
"0000288234"	"0000644112"
"0000288235"	"0000644113"
"0000288236"	"0000644114"
"0000288237"	"0000644115"
"0000288238"	"0000644116"
"0000288239"	"0000644117"
"0000288240"	"0000644118"
"0000288241"	"0000644119"
"0000288242"	"0000644120"
"0000329260"	"0000713383"
"0000329601"	"0000713949"
"0000329602"	"0000713950"
"0000333523"	"0000731196"
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