### LOVD-version 3000-30b ### Full data download ### To import, do not remove or alter this header ###
## Filter: (gene_public = INPP5E)
# 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}}"
"INPP5E"	"inositol polyphosphate-5-phosphatase, 72 kDa"	"9"	"q34.3"	"unknown"	"NC_000009.11"	"UD_132118251150"	""	"https://www.LOVD.nl/INPP5E"	""	"1"	"21474"	"56623"	"613037"	"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 performed by Johan den Dunnen, supported by <a href=\'http://www.variome.org\' target=\'_blank\'>Global Variome</a>."	""	"g"	"https://databases.lovd.nl/shared/refseq/INPP5E_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"	"2024-09-25 10:41:12"	"00000"	"2025-11-01 13:22:20"


## 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}}"
"00010055"	"INPP5E"	"inositol polyphosphate-5-phosphatase, 72 kDa"	"001"	"NM_019892.4"	""	"NP_063945.2"	""	""	""	"-385"	"2995"	"1935"	"139334256"	"139323067"	""	"0000-00-00 00:00:00"	""	""


## Diseases ## Do not remove or alter this header ##
## Count = 6
"{{id}}"	"{{symbol}}"	"{{name}}"	"{{inheritance}}"	"{{id_omim}}"	"{{tissues}}"	"{{features}}"	"{{remarks}}"	"{{created_by}}"	"{{created_date}}"	"{{edited_by}}"	"{{edited_date}}"
"00002"	"JBTS1"	"Joubert syndrome, type 1 (JBTS1)"	"AR"	"213300"	""	""	""	"00006"	"2012-05-17 22:47:36"	"00006"	"2021-12-10 21:51:32"
"00139"	"ID"	"intellectual disability (ID)"	""	""	""	""	""	"00084"	"2013-06-04 18:18:07"	"00006"	"2015-02-09 10:02:49"
"00198"	"?"	"unclassified / mixed"	""	""	""	""	""	"00006"	"2013-09-13 14:21:47"	"00006"	"2024-11-23 09:38:12"
"00940"	"MORMS"	"mental retardation, truncal obesity, retinal dystrophy, and micropenis syndrome (MORMS)"	"AR"	"610156"	""	""	""	"00006"	"2014-09-25 23:29:40"	"00006"	"2021-12-10 21:51:32"
"04214"	"-"	"retinal disease"	""	""	""	""	""	"00006"	"2015-02-27 19:48:07"	"00001"	"2023-03-09 14:26:26"
"05109"	"JBTS"	"Joubert syndrome (JBTS)"	""	""	""	""	""	"00006"	"2016-01-09 00:37:44"	""	""


## Genes_To_Diseases ## Do not remove or alter this header ##
## Count = 3
"{{geneid}}"	"{{diseaseid}}"
"INPP5E"	"00002"
"INPP5E"	"00139"
"INPP5E"	"00940"


## Individuals ## Do not remove or alter this header ##
## Count = 65
"{{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}}"
"00028924"	""	""	""	"1"	""	"01188"	"{PMID:Kroes 2016:25920555}"	""	""	""	""	""	"0"	""	""	"Europe-N"	"1-52 Pat13"
"00028925"	""	""	""	"1"	""	"01188"	"{PMID:Kroes 2016:25920555}"	""	""	""	""	""	"0"	""	""	"Europe-N"	"2-44 Pat14"
"00269771"	""	""	""	"2"	""	"00006"	"{PMID:Tsurusaki 2013:23034536}"	"2-generation family, 2 affected sisters, unaffected heterozygous carrier parents"	"F"	""	"Japan"	""	"0"	""	""	""	"Fam1"
"00294807"	""	""	""	"1"	""	"03575"	"{PMID:Narang 2020:32906206}, {DOI:Narang 2020:10.1002/humu.24102}"	"analysis 2794 individuals (India)"	""	""	"India"	""	"0"	""	""	""	""
"00309200"	""	""	""	"1"	""	"00004"	"{PMID:Sharon 2019:31456290}"	"1 IRD family"	""	""	"Israel"	""	"0"	""	""	""	""
"00331983"	""	""	""	"1"	""	"00000"	"{PMID:Birtel 2018:29555955}"	"patient"	"F"	""	"Germany"	""	"0"	""	""	""	"Pat121"
"00332281"	""	""	""	"1"	""	"00000"	"{PMID:Porto 2017:29186038}"	"proband"	""	""	"Brazil"	""	"0"	""	""	""	"Fam18PatFBP_53"
"00333841"	""	""	""	"1"	""	"00000"	"{PMID:Stone 2017:28559085}"	"1 affected"	"F"	""	"(United States)"	""	"0"	""	""	""	"37"
"00333926"	""	""	""	"1"	""	"00000"	"{PMID:Stone 2017:28559085}"	"1 affected"	"F"	""	"(United States)"	""	"0"	""	""	""	"349"
"00334100"	""	""	""	"2"	""	"00000"	"{PMID:Stone 2017:28559085}"	"family, 2 affected"	"M"	""	"(United States)"	""	"0"	""	""	""	"634"
"00335977"	""	""	""	"1"	""	"00000"	"{PMID:Sergouniotis 2016:27628848}"	"analysis 486 cases"	""	""	"United Kingdom (Great Britain)"	""	"0"	""	""	""	""
"00358844"	""	""	""	"2"	""	"00000"	"{PMID:Suzuki 2016:27434533}"	"family, 2 affected siblings"	""	"no"	"Japan"	""	"0"	""	""	""	"Fam1Pat1"
"00358862"	""	""	""	"1"	""	"00000"	"{PMID:Suzuki 2016:27434533}"	""	""	"no"	"Japan"	""	"0"	""	""	""	"Fam22"
"00358869"	""	""	"00358844"	"1"	""	"00000"	"{PMID:Suzuki 2016:27434533}"	"sibling"	""	"no"	"Japan"	""	"0"	""	""	""	"Fam1Pat2"
"00358971"	""	""	""	"1"	""	"00000"	"{PMID:Tiwari 2016:27353947}"	"see paper"	"F"	""	"Switzerland"	""	"0"	""	""	""	"Case70946"
"00372274"	""	""	""	"1"	""	"00000"	"{PMID:Bachmann-Gagescu 2015:26092869}"	"patient"	""	""	""	""	"0"	""	""	""	"UW011-3"
"00372275"	""	""	""	"1"	""	"00000"	"{PMID:Bachmann-Gagescu 2015:26092869}"	"patient"	""	""	""	""	"0"	""	""	""	"UW107-3"
"00372276"	""	""	""	"1"	""	"00000"	"{PMID:Bachmann-Gagescu 2015:26092869}"	"patient"	""	""	""	""	"0"	""	""	""	"UW107-4"
"00372277"	""	""	""	"1"	""	"00000"	"{PMID:Bachmann-Gagescu 2015:26092869}"	"patient"	""	""	""	""	"0"	""	""	""	"UW208-3"
"00372278"	""	""	""	"1"	""	"00000"	"{PMID:Bachmann-Gagescu 2015:26092869}"	"patient"	""	""	""	""	"0"	""	""	""	"UW214-3"
"00372279"	""	""	""	"1"	""	"00000"	"{PMID:Bachmann-Gagescu 2015:26092869}"	"patient"	""	""	""	""	"0"	""	""	""	"UW214-4"
"00372280"	""	""	""	"1"	""	"00000"	"{PMID:Bachmann-Gagescu 2015:26092869}"	"patient"	""	""	""	""	"0"	""	""	""	"UW217-3"
"00372281"	""	""	""	"1"	""	"00000"	"{PMID:Bachmann-Gagescu 2015:26092869}"	"patient"	""	""	""	""	"0"	""	""	""	"UW235-3"
"00372282"	""	""	""	"1"	""	"00000"	"{PMID:Bachmann-Gagescu 2015:26092869}"	"patient"	""	""	""	""	"0"	""	""	""	"UW238-3"
"00372283"	""	""	""	"1"	""	"00000"	"{PMID:Bachmann-Gagescu 2015:26092869}"	"patient"	""	""	""	""	"0"	""	""	""	"UW289-3"
"00372284"	""	""	""	"1"	""	"00000"	"{PMID:Bachmann-Gagescu 2015:26092869}"	"patient"	""	""	""	""	"0"	""	""	""	"UW294-3"
"00372510"	""	""	""	"1"	""	"00000"	"{PMID:Wang 2015:26047050}"	"index case"	""	""	"China"	""	"0"	""	""	""	"130"
"00372521"	""	""	""	"1"	""	"00006"	"{PMID:Xu 2015:25999675}"	"2-generation family, 1 affected, unaffected parents"	"F"	""	"China"	""	"0"	""	""	""	"RP374"
"00373399"	""	""	""	"1"	""	"00000"	"{PMID:Kroes 2016:25920555}"	""	""	""	""	""	"0"	""	""	"Europe-N"	"2-42"
"00377671"	""	""	""	"1"	""	"00000"	"{PMID:Brooks 2018:30055837}"	"family 62"	"M"	""	"United States"	""	"0"	""	""	""	"372"
"00377672"	""	""	""	"1"	""	"00000"	"{PMID:Brooks 2018:30055837}"	"family 63"	"M"	""	"United States"	""	"0"	""	""	""	"352"
"00377673"	""	""	""	"1"	""	"00000"	"{PMID:Brooks 2018:30055837}"	"family 64"	"F"	""	"United States"	""	"0"	""	""	""	"7504"
"00377674"	""	""	""	"1"	""	"00000"	"{PMID:Brooks 2018:30055837}"	"family 64"	"F"	""	"United States"	""	"0"	""	""	""	"7503"
"00381240"	""	""	""	"1"	""	"00008"	"{PMID:Wang-2013:23847139}"	"patient carry homozygous novel missense mutation in other retinal disease genes,Joubert syndrome"	""	"no"	""	""	"0"	""	""	""	""
"00383655"	""	""	""	"1"	""	"00000"	"{PMID:Manara 2019:31196119}"	""	"F"	""	""	""	"0"	""	""	""	"4"
"00383701"	""	""	""	"8"	""	"00000"	"{PMID:Khan 2019:31173343}"	"Family 2, individual V-1"	"M"	"yes"	"Pakistan"	""	"0"	""	""	""	"Fam2_V-1"
"00383702"	""	""	"00383701"	"1"	""	"00000"	"{PMID:Khan 2019:31173343}"	"Family 2, individual VI-2"	"M"	"yes"	"Pakistan"	""	"0"	""	""	""	"Fam2_VI-2"
"00383703"	""	""	"00383701"	"1"	""	"00000"	"{PMID:Khan 2019:31173343}"	"Family 2, individual VI-3"	"F"	"yes"	"Pakistan"	""	"0"	""	""	""	"Fam2_VI-3"
"00383704"	""	""	"00383701"	"1"	""	"00000"	"{PMID:Khan 2019:31173343}"	"Family 2, individual VI-6"	"M"	"yes"	"Pakistan"	""	"0"	""	""	""	"Fam2_VI-6"
"00383705"	""	""	"00383701"	"1"	""	"00000"	"{PMID:Khan 2019:31173343}"	"Family 2, individual VI-9"	"M"	"yes"	"Pakistan"	""	"0"	""	""	""	"Fam2_VI-9"
"00383706"	""	""	"00383701"	"1"	""	"00000"	"{PMID:Khan 2019:31173343}"	"Family 2, individual VI-10"	"M"	"yes"	"Pakistan"	""	"0"	""	""	""	"Fam2_VI-10"
"00383707"	""	""	"00383701"	"1"	""	"00000"	"{PMID:Khan 2019:31173343}"	"Family 2, individual VI-11"	"M"	"yes"	"Pakistan"	""	"0"	""	""	""	"Fam2_VI-11"
"00383708"	""	""	"00383701"	"1"	""	"00000"	"{PMID:Khan 2019:31173343}"	"Family 2, individual VI-12"	"M"	"yes"	"Pakistan"	""	"0"	""	""	""	"Fam2_VI-12"
"00387539"	""	""	""	"1"	""	"00000"	"{PMID:Knopp 2015:26003401}"	""	"M"	"yes"	""	""	"0"	""	""	""	""
"00388139"	""	""	""	"1"	""	"00000"	"{PMID:Summers 2017:28497568}"	""	""	""	"United States"	""	"0"	""	""	""	"7503"
"00388140"	""	""	""	"1"	""	"00000"	"{PMID:Summers 2017:28497568}"	""	""	""	"United States"	""	"0"	""	""	""	"7504"
"00390833"	""	""	""	"1"	""	"00000"	"{PMID:Toma-2018:29987673}"	"each of the variants was inherited by one healthy parent"	"F"	""	""	""	"0"	""	""	"Italian"	""
"00390834"	""	""	""	"1"	""	"00000"	"{PMID:Toma-2018:29987673}"	"sister of patient 1"	"F"	""	""	""	"0"	""	""	"Italian"	""
"00390837"	""	""	""	"1"	""	"00000"	"{PMID:Toma-2018:29987673}"	""	"M"	""	""	""	"0"	""	""	"Italian"	""
"00395562"	""	""	""	"1"	""	"00000"	"{PMID:Perea-Romero 2021:34448047}"	""	""	""	"Spain"	""	"0"	""	""	""	"RP-0247"
"00397842"	""	""	""	"1"	""	"00000"	"{PMID:Sonmez 2020:25818971}"	""	""	""	"Turkey"	""	"0"	""	""	""	"2"
"00415263"	""	""	""	"1"	""	"00000"	"{PMID:Alfares 2018:30202406}"	""	"F"	""	""	""	"0"	""	""	""	"18"
"00449800"	""	""	""	"1"	""	"03544"	""	""	"F"	"-"	"- (not applicable)"	""	""	""	""	"white"	""
"00454676"	""	""	""	"1"	""	"00006"	"{PMID:Sangermano 2021:34188062}"	"2-generation family, 1 affected, unaffected heterozygous carrier parents"	"M"	""	""	""	"0"	""	""	"Asia"	"FamAPatII-1"
"00454677"	""	""	""	"2"	""	"00006"	"{PMID:Sangermano 2021:34188062}"	"2-generation family, affected sister/brother, unaffected heterozygous carrier parents"	"F"	"yes"	""	""	"0"	""	""	"Arab"	"FamBPatII-4"
"00454678"	""	""	""	"1"	""	"00006"	"{PMID:Sangermano 2021:34188062}"	"2-generation family, 1 affected, unaffected heterozygous carrier parents"	"F"	""	"Portugal"	""	"0"	""	""	"white"	"FamCPatII-1"
"00454679"	""	""	""	"2"	""	"00006"	"{PMID:Sangermano 2021:34188062}"	"2-generation family, affected brother/sister, unaffected heterozygous carrier parents"	"F"	"yes"	"Portugal"	""	"0"	""	""	"white"	"FamDPatII-4"
"00454680"	""	""	""	"2"	""	"00006"	"{PMID:Sangermano 2021:34188062}"	"2-generation family, 2 affected sisters, unaffected heterozygous carrier parents"	"F"	""	""	""	"0"	""	""	"white"	"FamEPatII-4"
"00454681"	""	""	""	"1"	""	"00006"	"{PMID:Sangermano 2021:34188062}"	"2-generation family, 1 affected, unaffected parents"	"F"	""	""	""	"0"	""	""	"white"	"FamFPatII-1"
"00454682"	""	""	""	"1"	""	"00006"	"{PMID:Sangermano 2021:34188062}"	"2-generation family, 1 affected, unaffected parents"	"F"	""	""	""	"0"	""	""	"white"	"FamGPatII-1"
"00454683"	""	""	""	"1"	""	"00006"	"{PMID:Sangermano 2021:34188062}"	"3-generation family, 1 affected, unaffected heterozygous carrier father"	"F"	""	"Portugal"	""	"0"	""	""	"white"	"FamHPatIII-1"
"00454684"	""	""	""	"2"	""	"00006"	"{PMID:Sangermano 2021:34188062}"	"2-generation family, 1 affected, unaffected parents"	"M"	""	"United Kingdom (Great Britain)"	""	"0"	""	""	"white"	"FamIPatII-1"
"00454685"	""	""	""	"1"	""	"00006"	"{PMID:Sangermano 2021:34188062}"	"2-generation family, 1 affected, unaffected parents"	"M"	""	"United Kingdom (Great Britain)"	""	"0"	""	""	"white"	"FamJPatII-1"
"00454686"	""	""	""	"1"	""	"00006"	"{PMID:Sangermano 2021:34188062}"	"2-generation family, 1 affected, unaffected parents"	"F"	""	"United Kingdom (Great Britain)"	""	"0"	""	""	"white"	"FamKPatII-1"
"00454687"	""	""	""	"3"	""	"00006"	"{PMID:Sangermano 2021:34188062}"	"2-generation family, 3 affected brothers, unaffected parents"	"M"	"yes"	""	""	"0"	""	""	"Arab"	"FamLPatII-1"


## Individuals_To_Diseases ## Do not remove or alter this header ##
## Count = 65
"{{individualid}}"	"{{diseaseid}}"
"00028924"	"00002"
"00028925"	"00002"
"00269771"	"05109"
"00294807"	"00198"
"00309200"	"04214"
"00331983"	"04214"
"00332281"	"04214"
"00333841"	"04214"
"00333926"	"04214"
"00334100"	"04214"
"00335977"	"04214"
"00358844"	"05109"
"00358862"	"05109"
"00358869"	"05109"
"00358971"	"04214"
"00372274"	"05109"
"00372275"	"05109"
"00372276"	"05109"
"00372277"	"05109"
"00372278"	"05109"
"00372279"	"05109"
"00372280"	"05109"
"00372281"	"05109"
"00372282"	"05109"
"00372283"	"05109"
"00372284"	"05109"
"00372510"	"04214"
"00372521"	"04214"
"00373399"	"04214"
"00377671"	"04214"
"00377672"	"04214"
"00377673"	"04214"
"00377674"	"04214"
"00381240"	"04214"
"00383655"	"04214"
"00383701"	"04214"
"00383702"	"04214"
"00383703"	"04214"
"00383704"	"04214"
"00383705"	"04214"
"00383706"	"04214"
"00383707"	"04214"
"00383708"	"04214"
"00387539"	"04214"
"00388139"	"04214"
"00388140"	"04214"
"00390833"	"04214"
"00390834"	"04214"
"00390837"	"04214"
"00395562"	"04214"
"00397842"	"04214"
"00415263"	"04214"
"00449800"	"05109"
"00454676"	"04214"
"00454677"	"04214"
"00454678"	"04214"
"00454679"	"04214"
"00454680"	"04214"
"00454681"	"04214"
"00454682"	"04214"
"00454683"	"04214"
"00454684"	"04214"
"00454685"	"04214"
"00454686"	"04214"
"00454687"	"04214"


## Phenotypes ## Do not remove or alter this header ##
## Note: Only showing Phenotype columns active for Diseases 00002, 00139, 00198, 00940, 04214, 05109
## Count = 64
"{{id}}"	"{{diseaseid}}"	"{{individualid}}"	"{{owned_by}}"	"{{Phenotype/Inheritance}}"	"{{Phenotype/Age}}"	"{{Phenotype/Additional}}"	"{{Phenotype/Age/Onset}}"	"{{Phenotype/Birth/Gestational_age_wk}}"	"{{Phenotype/Age/Diagnosis}}"	"{{Phenotype/Onset}}"	"{{Phenotype/Protein}}"	"{{Phenotype/Tumor/MSI}}"	"{{Phenotype/Enzyme/CPK}}"	"{{Phenotype/Heart/Myocardium}}"	"{{Phenotype/Lung}}"	"{{Phenotype/Diagnosis/Definite}}"	"{{Phenotype/Diagnosis/Initial}}"	"{{Phenotype/Diagnosis/Criteria}}"
"0000025020"	"00002"	"00028924"	"01188"	"Unknown"	""	""	""	""	""	""	""	""	""	""	""	""	""	""
"0000025021"	"00002"	"00028925"	"01188"	"Unknown"	""	""	""	""	""	""	""	""	""	""	""	""	""	""
"0000207575"	"05109"	"00269771"	"00006"	"Familial, autosomal recessive"	""	"see paper; ..."	""	""	""	""	""	""	""	""	""	"JBTS-1"	"Joubert syndrome"	""
"0000234520"	"04214"	"00309200"	"00004"	"Unknown"	""	""	""	""	""	""	""	""	""	""	""	""	"Leber congenital amaurosis"	""
"0000250174"	"04214"	"00331983"	"00000"	"Familial, autosomal dominant"	"57y"	"reduced visual acuity; scotopic ERG borderline; photopic ERG borderline"	"54y"	""	""	"reduced visual acuity"	""	""	""	""	""	""	"macular dystrophy or cone-rod dystrophy"	""
"0000250468"	"04214"	"00332281"	"00000"	"Familial, autosomal recessive"	""	""	""	""	""	""	""	""	""	""	""	""	"Leber congenital amaurosis, early-onset retinal dystrophy"	""
"0000252026"	"04214"	"00333841"	"00000"	"Familial, autosomal recessive"	"48y"	"clinical category IA1a"	""	""	""	""	""	""	""	""	""	""	"retinitis pigmentosa"	""
"0000252111"	"04214"	"00333926"	"00000"	"Familial, autosomal recessive"	"27y"	"clinical category IA1b"	""	""	""	""	""	""	""	""	""	""	"cone rod dystrophy"	""
"0000252285"	"04214"	"00334100"	"00000"	"Familial, autosomal recessive"	"16y"	"clinical category IB5"	""	""	""	""	""	""	""	""	""	""	"Joubert syndrome"	""
"0000253892"	"04214"	"00335977"	"00000"	"Unknown"	""	""	""	""	""	""	""	""	""	""	""	""	"retinal dystrophy"	""
"0000254102"	"05109"	"00358844"	"00000"	"Familial, autosomal recessive"	""	"moderate intellectual disability; moderate developmental delay; hypotonia, ataxia; retina problems; no coloboma; no kidney problems; no liver symptoms; no encephalocele; no polydactyly"	""	""	""	""	""	""	""	""	""	""	"Joubert syndrome"	""
"0000254120"	"05109"	"00358862"	"00000"	"Familial, autosomal recessive"	""	"severe intellectual disability; severe developmental delay; hypotonia, ataxia; no retina problems; no coloboma; kidney problems; liver symptoms; no encephalocele; no polydactyly"	""	""	""	""	""	""	""	""	""	""	"Joubert syndrome"	""
"0000254127"	"05109"	"00358869"	"00000"	"Familial, autosomal recessive"	""	"moderate intellectual disability; moderate developmental delay; hypotonia, ataxia, neonatal dysregulated breathing; retina problems; no coloboma; no kidney problems; liver symptoms; no encephalocele; no polydactyly"	""	""	""	""	""	""	""	""	""	""	"Joubert syndrome"	""
"0000254269"	"04214"	"00358971"	"00000"	"Familial, autosomal recessive"	""	"see paper; ..."	""	""	""	""	""	""	""	""	""	""	"Best macular dystrophy"	""
"0000267595"	"05109"	"00372274"	"00000"	"Familial, autosomal recessive"	""	"see paper; ..."	""	""	""	""	""	""	""	""	""	""	"Joubert syndrome"	""
"0000267596"	"05109"	"00372275"	"00000"	"Familial, autosomal recessive"	""	"see paper; ..."	""	""	""	""	""	""	""	""	""	""	"Joubert syndrome"	""
"0000267597"	"05109"	"00372276"	"00000"	"Familial, autosomal recessive"	""	"see paper; ..."	""	""	""	""	""	""	""	""	""	""	"Joubert syndrome"	""
"0000267598"	"05109"	"00372277"	"00000"	"Familial, autosomal recessive"	""	"see paper; ..."	""	""	""	""	""	""	""	""	""	""	"Joubert syndrome"	""
"0000267599"	"05109"	"00372278"	"00000"	"Familial, autosomal recessive"	""	"see paper; ..."	""	""	""	""	""	""	""	""	""	""	"Joubert syndrome"	""
"0000267600"	"05109"	"00372279"	"00000"	"Familial, autosomal recessive"	""	"see paper; ..."	""	""	""	""	""	""	""	""	""	""	"Joubert syndrome"	""
"0000267601"	"05109"	"00372280"	"00000"	"Familial, autosomal recessive"	""	"see paper; ..."	""	""	""	""	""	""	""	""	""	""	"Joubert syndrome"	""
"0000267602"	"05109"	"00372281"	"00000"	"Familial, autosomal recessive"	""	"see paper; ..."	""	""	""	""	""	""	""	""	""	""	"Joubert syndrome"	""
"0000267603"	"05109"	"00372282"	"00000"	"Familial, autosomal recessive"	""	"see paper; ..."	""	""	""	""	""	""	""	""	""	""	"Joubert syndrome"	""
"0000267604"	"05109"	"00372283"	"00000"	"Familial, autosomal recessive"	""	"see paper; ..."	""	""	""	""	""	""	""	""	""	""	"Joubert syndrome"	""
"0000267605"	"05109"	"00372284"	"00000"	"Familial, autosomal recessive"	""	"see paper; ..."	""	""	""	""	""	""	""	""	""	""	"Joubert syndrome"	""
"0000267825"	"04214"	"00372510"	"00000"	"Unknown"	""	"see paper; ..."	""	""	""	""	""	""	""	""	""	""	"Leber congenital amaurosis"	""
"0000267835"	"04214"	"00372521"	"00006"	"Familial, autosomal recessive"	""	"see paper; ..."	""	""	""	""	""	""	""	""	""	""	"retinal dystrophy"	""
"0000268675"	"04214"	"00373399"	"00000"	"Unknown"	""	"see paper; ..."	""	""	""	""	""	""	""	""	""	""	"Joubert syndrome"	""
"0000272823"	"04214"	"00377671"	"00000"	"Familial, autosomal recessive"	""	"kidney disease, oculomotor apraxia, nystagmus, strabismus, coloboma - retina, iris, optic nerve, vessel attenuation"	""	""	""	""	""	""	""	""	""	""	"Joubert syndrome"	""
"0000272824"	"04214"	"00377672"	"00000"	"Familial, autosomal recessive"	""	"liver disease, kidney disease, oculomotor apraxia, nystagmus, strabismus, ptosis, retinal degeneration, optic nerve atrophy"	""	""	""	""	""	""	""	""	""	""	"Joubert syndrome"	""
"0000272825"	"04214"	"00377673"	"00000"	"Familial, autosomal recessive"	""	"oculomotor apraxia, nystagmus, retinal degeneration, vessel attenuation, optic nerve atrophy"	""	""	""	""	""	""	""	""	""	""	"Joubert syndrome"	""
"0000272826"	"04214"	"00377674"	"00000"	"Familial, autosomal recessive"	""	"oculomotor apraxia, nystagmus, ptosis, retinal degeneration, vessel attenuation, optic nerve atrophy"	""	""	""	""	""	""	""	""	""	""	"Joubert syndrome"	""
"0000275091"	"04214"	"00381240"	"00000"	"Familial"	""	""	""	""	""	""	""	""	""	""	""	""	"Leber congenital amaurosis"	""
"0000277440"	"04214"	"00383655"	"00000"	"Familial, autosomal recessive"	""	""	""	""	""	""	""	""	""	""	""	""	"Bardet–Biedl syndro"	""
"0000277486"	"04214"	"00383701"	"00000"	"Familial, autosomal recessive"	"50y"	""	""	""	""	""	"NM_019892.5"	""	""	""	""	""	"Ciliopathy"	""
"0000277487"	"04214"	"00383702"	"00000"	"Familial, autosomal recessive"	"9y"	""	""	""	""	""	"NM_019892.5"	""	""	""	""	""	"Ciliopathy"	""
"0000277488"	"04214"	"00383703"	"00000"	"Familial, autosomal recessive"	"7y"	""	""	""	""	""	"NM_019892.5"	""	""	""	""	""	"Ciliopathy"	""
"0000277489"	"04214"	"00383704"	"00000"	"Familial, autosomal recessive"	"8y"	""	""	""	""	""	"NM_019892.5"	""	""	""	""	""	"Ciliopathy"	""
"0000277490"	"04214"	"00383705"	"00000"	"Familial, autosomal recessive"	"10y"	""	""	""	""	""	"NM_019892.5"	""	""	""	""	""	"Ciliopathy"	""
"0000277491"	"04214"	"00383706"	"00000"	"Familial, autosomal recessive"	"1y"	""	""	""	""	""	"NM_019892.5"	""	""	""	""	""	"Ciliopathy"	""
"0000277492"	"04214"	"00383707"	"00000"	"Familial, autosomal recessive"	"19y"	""	""	""	""	""	"NM_019892.5"	""	""	""	""	""	"Ciliopathy"	""
"0000277493"	"04214"	"00383708"	"00000"	"Familial, autosomal recessive"	"15y"	""	""	""	""	""	"NM_019892.5"	""	""	""	""	""	"Ciliopathy"	""
"0000281102"	"04214"	"00387539"	"00000"	"Familial, autosomal recessive"	""	""	""	""	""	""	""	""	""	""	""	""	"Joubert syndrome"	""
"0000281733"	"04214"	"00388139"	"00000"	"Familial, autosomal recessive"	""	""	""	""	""	""	""	""	""	""	""	""	"Joubert syndrome (JBTS)"	""
"0000281734"	"04214"	"00388140"	"00000"	"Familial, autosomal recessive"	""	""	""	""	""	""	""	""	""	""	""	""	"Joubert syndrome (JBTS)"	""
"0000284321"	"04214"	"00390833"	"00000"	"Familial, autosomal recessive"	"28y"	"molar tooth sign,  Retinal dystrophy"	""	""	""	""	""	""	""	""	""	""	"Joubert syndrome"	""
"0000284322"	"04214"	"00390834"	"00000"	"Familial, autosomal recessive"	"21y"	"molar tooth sign,  Retinal dystrophy"	""	""	""	""	""	""	""	""	""	""	"Joubert syndrome"	""
"0000284325"	"04214"	"00390837"	"00000"	"Familial, autosomal recessive"	"14y"	"molar tooth sign,  Retinal dystrophy"	""	""	""	""	""	""	""	""	""	""	"Joubert syndrome"	""
"0000288760"	"04214"	"00395562"	"00000"	"Familial, autosomal recessive"	""	"astigmatism, hypermetropia, oculomotor apraxia, photophobia, posterior subcapsular cataract, rod-cone dystrophy, intellectual disability, language impairment, dysmetria, small angioma"	""	""	""	""	""	""	""	""	""	"MORM (mental retardation, truncal obesity, retinal dystrophy and micropenis) syndrome"	""	""
"0000290969"	"04214"	"00397842"	"00000"	"Familial, autosomal recessive"	""	"end-stage renal disease at young age"	""	""	""	""	""	""	""	""	""	"Joubert syndrome"	""	""
"0000307061"	"04214"	"00415263"	"00000"	"Familial, autosomal recessive"	""	"OMIM: 213300; global developmental delay, hypotonia, and dysmorphic child"	""	""	""	""	""	""	""	""	""	"Joubert syndrome type 1"	""	""
"0000338946"	"05109"	"00449800"	"03544"	"Isolated (sporadic)"	""	"HP:0001249, HP:0001252, HP:0000271, HP:0000505, HP:0000239, HP:0000107, HP:0001407"	""	""	""	""	""	""	""	""	""	"JBTS1"	""	""
"0000343308"	"04214"	"00454676"	"00006"	"Familial, autosomal recessive"	""	"see paper; ..."	""	""	""	""	""	""	""	""	""	"JBTS1"	"non-syndromic inherited retinal degeneration"	""
"0000343309"	"04214"	"00454677"	"00006"	"Familial, autosomal recessive"	""	"see paper; ..."	""	""	""	""	""	""	""	""	""	"JBTS1"	"non-syndromic inherited retinal degeneration"	""
"0000343310"	"04214"	"00454678"	"00006"	"Familial, autosomal recessive"	""	"see paper; ..."	""	""	""	""	""	""	""	""	""	"JBTS1"	"non-syndromic inherited retinal degeneration"	""
"0000343311"	"04214"	"00454679"	"00006"	"Familial, autosomal recessive"	""	"see paper; ..."	""	""	""	""	""	""	""	""	""	"JBTS1"	"non-syndromic inherited retinal degeneration"	""
"0000343312"	"04214"	"00454680"	"00006"	"Familial, autosomal recessive"	""	"see paper; ..."	""	""	""	""	""	""	""	""	""	"JBTS1"	"non-syndromic inherited retinal degeneration"	""
"0000343313"	"04214"	"00454681"	"00006"	"Familial, autosomal recessive"	""	"see paper; ..."	""	""	""	""	""	""	""	""	""	"JBTS1"	"non-syndromic inherited retinal degeneration"	""
"0000343314"	"04214"	"00454682"	"00006"	"Familial, autosomal recessive"	""	"see paper; ..."	""	""	""	""	""	""	""	""	""	"JBTS1"	"non-syndromic inherited retinal degeneration"	""
"0000343315"	"04214"	"00454683"	"00006"	"Familial, autosomal recessive"	""	"see paper; ..."	""	""	""	""	""	""	""	""	""	"JBTS1"	"non-syndromic inherited retinal degeneration"	""
"0000343316"	"04214"	"00454684"	"00006"	"Familial, autosomal recessive"	""	"see paper; ..."	""	""	""	""	""	""	""	""	""	"JBTS1"	"non-syndromic inherited retinal degeneration"	""
"0000343317"	"04214"	"00454685"	"00006"	"Familial, autosomal recessive"	""	"see paper; ..."	""	""	""	""	""	""	""	""	""	"JBTS1"	"non-syndromic inherited retinal degeneration"	""
"0000343318"	"04214"	"00454686"	"00006"	"Familial, autosomal recessive"	""	"see paper; ..."	""	""	""	""	""	""	""	""	""	"JBTS1"	"non-syndromic inherited retinal degeneration"	""
"0000343319"	"04214"	"00454687"	"00006"	"Familial, autosomal recessive"	""	"see paper; ..."	""	""	""	""	""	""	""	""	""	"JBTS1"	"non-syndromic inherited retinal degeneration"	""


## Screenings ## Do not remove or alter this header ##
## Count = 65
"{{id}}"	"{{individualid}}"	"{{variants_found}}"	"{{owned_by}}"	"{{created_by}}"	"{{created_date}}"	"{{edited_by}}"	"{{edited_date}}"	"{{Screening/Technique}}"	"{{Screening/Template}}"	"{{Screening/Tissue}}"	"{{Screening/Remarks}}"
"0000028957"	"00028924"	"1"	"01188"	"01188"	"2015-01-05 15:40:12"	""	""	"SEQ-NG-S"	"DNA"	"blood"	""
"0000028958"	"00028925"	"1"	"01188"	"01188"	"2015-01-05 15:42:21"	""	""	"SEQ-NG-S"	"DNA"	"blood"	""
"0000270926"	"00269771"	"1"	"00006"	"00006"	"2019-12-05 11:24:58"	""	""	"SEQ;SEQ-NG"	"DNA"	""	"WES"
"0000295975"	"00294807"	"1"	"03575"	"00006"	"2020-03-11 19:30:02"	""	""	"arraySNP"	"DNA"	""	"Infinium Global Screening Array v1.0"
"0000310345"	"00309200"	"1"	"00004"	"00006"	"2020-08-28 13:59:40"	""	""	"SEQ"	"DNA"	""	""
"0000333202"	"00331983"	"1"	"00000"	"00006"	"2021-02-14 10:12:05"	""	""	"SEQ-NG"	"DNA"	""	""
"0000333501"	"00332281"	"1"	"00000"	"00006"	"2021-02-16 17:14:33"	""	""	"SEQ-NG"	"DNA"	""	"300-gene panel"
"0000335067"	"00333841"	"1"	"00000"	"00006"	"2021-02-26 16:26:23"	""	""	"SEQ-NG"	"DNA"	""	""
"0000335152"	"00333926"	"1"	"00000"	"00006"	"2021-02-26 16:26:23"	""	""	"SEQ-NG"	"DNA"	""	""
"0000335326"	"00334100"	"1"	"00000"	"00006"	"2021-02-26 16:26:23"	""	""	"SEQ-NG"	"DNA"	""	""
"0000337207"	"00335977"	"1"	"00000"	"00006"	"2021-03-10 17:05:56"	""	""	"SEQ-NG"	"DNA"	""	"gene panel"
"0000360076"	"00358844"	"1"	"00000"	"00006"	"2021-03-16 16:48:35"	""	""	"SEQ;SEQ-NG"	"DNA"	""	"WES"
"0000360094"	"00358862"	"1"	"00000"	"00006"	"2021-03-16 16:48:35"	""	""	"SEQ;SEQ-NG"	"DNA"	""	"WES"
"0000360101"	"00358869"	"1"	"00000"	"00006"	"2021-03-16 16:48:35"	""	""	"SEQ;SEQ-NG"	"DNA"	""	"WES"
"0000360208"	"00358971"	"1"	"00000"	"00006"	"2021-03-18 12:15:00"	""	""	"SEQ-NG"	"DNA"	""	"WES"
"0000373503"	"00372274"	"1"	"00000"	"00006"	"2021-05-07 09:26:25"	""	""	"SEQ"	"DNA"	""	"27-gene panel"
"0000373504"	"00372275"	"1"	"00000"	"00006"	"2021-05-07 09:26:25"	""	""	"SEQ"	"DNA"	""	"27-gene panel"
"0000373505"	"00372276"	"1"	"00000"	"00006"	"2021-05-07 09:26:25"	""	""	"SEQ"	"DNA"	""	"27-gene panel"
"0000373506"	"00372277"	"1"	"00000"	"00006"	"2021-05-07 09:26:25"	""	""	"SEQ"	"DNA"	""	"27-gene panel"
"0000373507"	"00372278"	"1"	"00000"	"00006"	"2021-05-07 09:26:25"	""	""	"SEQ"	"DNA"	""	"27-gene panel"
"0000373508"	"00372279"	"1"	"00000"	"00006"	"2021-05-07 09:26:25"	""	""	"SEQ"	"DNA"	""	"27-gene panel"
"0000373509"	"00372280"	"1"	"00000"	"00006"	"2021-05-07 09:26:25"	""	""	"SEQ"	"DNA"	""	"27-gene panel"
"0000373510"	"00372281"	"1"	"00000"	"00006"	"2021-05-07 09:26:25"	""	""	"SEQ"	"DNA"	""	"27-gene panel"
"0000373511"	"00372282"	"1"	"00000"	"00006"	"2021-05-07 09:26:25"	""	""	"SEQ"	"DNA"	""	"27-gene panel"
"0000373512"	"00372283"	"1"	"00000"	"00006"	"2021-05-07 09:26:25"	""	""	"SEQ"	"DNA"	""	"27-gene panel"
"0000373513"	"00372284"	"1"	"00000"	"00006"	"2021-05-07 09:26:25"	""	""	"SEQ"	"DNA"	""	"27-gene panel"
"0000373743"	"00372510"	"1"	"00000"	"00006"	"2021-05-08 09:43:10"	""	""	"SEQ-NG"	"DNA"	""	"163-gene panel"
"0000373754"	"00372521"	"1"	"00006"	"00006"	"2021-05-08 12:13:45"	""	""	"SEQ-NG"	"DNA"	""	""
"0000374634"	"00373399"	"1"	"00000"	"00006"	"2021-05-14 11:33:21"	""	""	"SEQ-NG"	"DNA"	""	"22-gene panel"
"0000378875"	"00377671"	"1"	"00000"	"03840"	"2021-08-02 11:30:27"	""	""	"SEQ-NG"	"DNA"	"blood"	"targeted NGS with molecular inversion probes: coding exons of 27 genes associated with Joubert syndrome"
"0000378876"	"00377672"	"1"	"00000"	"03840"	"2021-08-02 11:30:27"	""	""	"SEQ-NG"	"DNA"	"blood"	"targeted NGS with molecular inversion probes: coding exons of 27 genes associated with Joubert syndrome"
"0000378877"	"00377673"	"1"	"00000"	"03840"	"2021-08-02 11:30:27"	""	""	"SEQ-NG"	"DNA"	"blood"	"targeted NGS with molecular inversion probes: coding exons of 27 genes associated with Joubert syndrome"
"0000378878"	"00377674"	"1"	"00000"	"03840"	"2021-08-02 11:30:27"	""	""	"SEQ-NG"	"DNA"	"blood"	"targeted NGS with molecular inversion probes: coding exons of 27 genes associated with Joubert syndrome"
"0000382455"	"00381240"	"1"	"00009"	"00008"	"2021-08-27 03:00:16"	""	""	"SEQ-NG"	"DNA"	"blood"	""
"0000384880"	"00383655"	"1"	"00000"	"03840"	"2021-09-29 12:18:14"	""	""	"SEQ-NG;SEQ"	"DNA"	"blood;saliva"	"panel containing 18 BBS genes"
"0000384926"	"00383701"	"1"	"00000"	"03840"	"2021-09-29 12:25:10"	""	""	"SEQ"	"DNA"	"blood"	""
"0000384927"	"00383702"	"1"	"00000"	"03840"	"2021-09-29 12:25:10"	""	""	"SEQ"	"DNA"	"blood"	""
"0000384928"	"00383703"	"1"	"00000"	"03840"	"2021-09-29 12:25:10"	""	""	"SEQ-NG;SEQ"	"DNA"	"blood"	""
"0000384929"	"00383704"	"1"	"00000"	"03840"	"2021-09-29 12:25:10"	""	""	"SEQ"	"DNA"	"blood"	""
"0000384930"	"00383705"	"1"	"00000"	"03840"	"2021-09-29 12:25:10"	""	""	"SEQ"	"DNA"	"blood"	""
"0000384931"	"00383706"	"1"	"00000"	"03840"	"2021-09-29 12:25:10"	""	""	"SEQ"	"DNA"	"blood"	""
"0000384932"	"00383707"	"1"	"00000"	"03840"	"2021-09-29 12:25:10"	""	""	"SEQ"	"DNA"	"blood"	""
"0000384933"	"00383708"	"1"	"00000"	"03840"	"2021-09-29 12:25:10"	""	""	"SEQ"	"DNA"	"blood"	""
"0000388765"	"00387539"	"1"	"00000"	"00008"	"2021-10-29 21:32:58"	""	""	"arraySNP;SEQ-NG;PCR"	"DNA"	"blood"	""
"0000389378"	"00388139"	"1"	"00000"	"00008"	"2021-11-02 00:52:48"	"00008"	"2021-11-04 08:55:19"	"SEQ-NG"	"DNA"	"blood"	"whole exome sequencing"
"0000389379"	"00388140"	"1"	"00000"	"00008"	"2021-11-02 00:52:48"	"00008"	"2021-11-04 08:55:19"	"SEQ-NG"	"DNA"	"blood"	"whole exome sequencing"
"0000392074"	"00390833"	"1"	"00000"	"00008"	"2021-11-11 21:56:08"	""	""	"SEQ-NG"	"DNA"	""	""
"0000392075"	"00390834"	"1"	"00000"	"00008"	"2021-11-11 21:56:08"	""	""	"SEQ-NG"	"DNA"	""	""
"0000392078"	"00390837"	"1"	"00000"	"00008"	"2021-11-11 21:56:08"	""	""	"SEQ-NG"	"DNA"	""	""
"0000396800"	"00395562"	"1"	"00000"	"03840"	"2021-12-08 14:12:08"	""	""	"?"	"DNA"	""	"whole exome sequencing"
"0000399084"	"00397842"	"1"	"00000"	"03840"	"2021-12-29 12:58:54"	""	""	"?"	"DNA"	""	""
"0000416545"	"00415263"	"1"	"00000"	"03840"	"2022-08-10 20:39:58"	""	""	"SEQ-NG"	"DNA"	""	"exome sequencing done at a commercial CAPaccredited laboratory"
"0000451395"	"00449800"	"1"	"03544"	"03544"	"2024-05-15 10:54:50"	""	""	"SEQ-NG-I"	"DNA"	"peripheral blood"	"CES"
"0000456289"	"00454676"	"1"	"00006"	"00006"	"2024-09-25 10:36:03"	""	""	"SEQ;SEQ-NG"	"DNA"	""	"gene panel"
"0000456290"	"00454677"	"1"	"00006"	"00006"	"2024-09-25 10:36:03"	""	""	"SEQ;SEQ-NG"	"DNA"	""	"WES"
"0000456291"	"00454678"	"1"	"00006"	"00006"	"2024-09-25 10:36:03"	""	""	"SEQ;SEQ-NG"	"DNA"	""	"WES"
"0000456292"	"00454679"	"1"	"00006"	"00006"	"2024-09-25 10:36:03"	""	""	"SEQ;SEQ-NG"	"DNA"	""	"WES"
"0000456293"	"00454680"	"1"	"00006"	"00006"	"2024-09-25 10:36:03"	""	""	"SEQ;SEQ-NG"	"DNA"	""	"gene panel"
"0000456294"	"00454681"	"1"	"00006"	"00006"	"2024-09-25 10:36:03"	""	""	"SEQ;SEQ-NG"	"DNA"	""	"gene panel"
"0000456295"	"00454682"	"1"	"00006"	"00006"	"2024-09-25 10:36:03"	""	""	"SEQ;SEQ-NG"	"DNA"	""	"gene panel"
"0000456296"	"00454683"	"1"	"00006"	"00006"	"2024-09-25 10:36:03"	""	""	"SEQ;SEQ-NG"	"DNA"	""	"WES"
"0000456297"	"00454684"	"1"	"00006"	"00006"	"2024-09-25 10:36:03"	""	""	"SEQ;SEQ-NG"	"DNA"	""	"WGS"
"0000456298"	"00454685"	"1"	"00006"	"00006"	"2024-09-25 10:36:03"	""	""	"SEQ;SEQ-NG"	"DNA"	""	"WGS"
"0000456299"	"00454686"	"1"	"00006"	"00006"	"2024-09-25 10:36:03"	""	""	"SEQ;SEQ-NG"	"DNA"	""	"WGS"
"0000456300"	"00454687"	"1"	"00006"	"00006"	"2024-09-25 10:36:03"	""	""	"SEQ;SEQ-NG"	"DNA"	""	"WES"


## Screenings_To_Genes ## Do not remove or alter this header ##
## Count = 50
"{{screeningid}}"	"{{geneid}}"
"0000028957"	"INPP5E"
"0000028958"	"INPP5E"
"0000270926"	"INPP5E"
"0000310345"	"INPP5E"
"0000333202"	"INPP5E"
"0000333501"	"INPP5E"
"0000335067"	"INPP5E"
"0000335152"	"INPP5E"
"0000335326"	"INPP5E"
"0000337207"	"INPP5E"
"0000360076"	"INPP5E"
"0000360094"	"INPP5E"
"0000360101"	"INPP5E"
"0000373503"	"INPP5E"
"0000373504"	"INPP5E"
"0000373505"	"INPP5E"
"0000373506"	"INPP5E"
"0000373507"	"INPP5E"
"0000373508"	"INPP5E"
"0000373509"	"INPP5E"
"0000373510"	"INPP5E"
"0000373511"	"INPP5E"
"0000373512"	"INPP5E"
"0000373513"	"INPP5E"
"0000373743"	"INPP5E"
"0000373754"	"INPP5E"
"0000374634"	"INPP5E"
"0000378875"	"INPP5E"
"0000378876"	"INPP5E"
"0000378877"	"INPP5E"
"0000378878"	"INPP5E"
"0000382455"	"INPP5E"
"0000384880"	"BBS2"
"0000384926"	"INPP5E"
"0000384927"	"INPP5E"
"0000384928"	"INPP5E"
"0000384929"	"INPP5E"
"0000384930"	"INPP5E"
"0000384931"	"INPP5E"
"0000384932"	"INPP5E"
"0000384933"	"INPP5E"
"0000388765"	"INPP5E"
"0000389378"	"INPP5E"
"0000389379"	"INPP5E"
"0000392074"	"INPP5E"
"0000392075"	"INPP5E"
"0000392078"	"INPP5E"
"0000396800"	"INPP5E"
"0000399084"	"INPP5E"
"0000416545"	"INPP5E"


## 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 = 217
"{{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}}"
"0000052265"	"3"	"70"	"9"	"139327014"	"139327014"	"subst"	"0"	"01188"	"INPP5E_000001"	"g.139327014C>T"	""	"{PMID:Kroes 2016:25920555}"	""	""	""	"Unknown"	"?"	"rs121918129"	"0"	""	""	"g.136432562C>T"	""	"likely pathogenic"	""
"0000052266"	"3"	"70"	"9"	"139329272"	"139329272"	"subst"	"4.1674E-6"	"01188"	"INPP5E_000002"	"g.139329272C>T"	""	"{PMID:Kroes 2016:25920555}"	""	""	""	"Unknown"	"?"	""	"0"	""	""	"g.136434820C>T"	""	"likely pathogenic"	""
"0000247962"	"0"	"10"	"9"	"139327034"	"139327034"	"subst"	"0.420745"	"02325"	"INPP5E_000020"	"g.139327034A>G"	""	""	""	"INPP5E(NM_019892.5):c.1284T>C (p.G428=), INPP5E(NM_019892.6):c.1284T>C (p.G428=)"	"VKGL data sharing initiative Nederland"	"CLASSIFICATION record"	""	""	"0"	""	""	"g.136432582A>G"	""	"benign"	""
"0000247963"	"0"	"10"	"9"	"139327439"	"139327439"	"subst"	"0.419761"	"02325"	"INPP5E_000039"	"g.139327439A>G"	""	""	""	"INPP5E(NM_019892.5):c.1248T>C (p.T416=), INPP5E(NM_019892.6):c.1248T>C (p.T416=)"	"VKGL data sharing initiative Nederland"	"CLASSIFICATION record"	""	""	"0"	""	""	"g.136432987A>G"	""	"benign"	""
"0000252178"	"0"	"30"	"9"	"139326447"	"139326447"	"subst"	"4.09584E-6"	"02326"	"INPP5E_000015"	"g.139326447A>G"	""	""	""	"INPP5E(NM_019892.6):c.1388-10T>C"	"VKGL data sharing initiative Nederland"	"CLASSIFICATION record"	""	""	"0"	""	""	"g.136431995A>G"	""	"likely benign"	""
"0000253223"	"0"	"10"	"9"	"139327034"	"139327034"	"subst"	"0.420745"	"01943"	"INPP5E_000020"	"g.139327034A>G"	""	""	""	"INPP5E(NM_019892.5):c.1284T>C (p.G428=), INPP5E(NM_019892.6):c.1284T>C (p.G428=)"	"VKGL data sharing initiative Nederland"	"CLASSIFICATION record"	""	""	"0"	""	""	"g.136432582A>G"	""	"benign"	""
"0000253224"	"0"	"10"	"9"	"139327439"	"139327439"	"subst"	"0.419761"	"01943"	"INPP5E_000039"	"g.139327439A>G"	""	""	""	"INPP5E(NM_019892.5):c.1248T>C (p.T416=), INPP5E(NM_019892.6):c.1248T>C (p.T416=)"	"VKGL data sharing initiative Nederland"	"CLASSIFICATION record"	""	""	"0"	""	""	"g.136432987A>G"	""	"benign"	""
"0000278068"	"0"	"50"	"9"	"139328508"	"139328508"	"subst"	"4.18158E-6"	"02330"	"INPP5E_000026"	"g.139328508G>A"	""	""	""	"INPP5E(NM_019892.6):c.1015C>T (p.Q339*)"	"VKGL data sharing initiative Nederland"	"CLASSIFICATION record"	""	""	"0"	""	""	"g.136434056G>A"	""	"VUS"	""
"0000278073"	"0"	"30"	"9"	"139326423"	"139326423"	"subst"	"1.63499E-5"	"02330"	"INPP5E_000014"	"g.139326423G>A"	""	""	""	"INPP5E(NM_019892.6):c.1402C>T (p.R468C)"	"VKGL data sharing initiative Nederland"	"CLASSIFICATION record"	""	""	"0"	""	""	"g.136431971G>A"	""	"likely benign"	""
"0000278074"	"0"	"30"	"9"	"139325568"	"139325568"	"subst"	"6.94484E-5"	"02330"	"INPP5E_000009"	"g.139325568C>A"	""	""	""	"INPP5E(NM_019892.6):c.1551G>T (p.G517=)"	"VKGL data sharing initiative Nederland"	"CLASSIFICATION record"	""	""	"0"	""	""	"g.136431116C>A"	""	"likely benign"	""
"0000278075"	"0"	"10"	"9"	"139324761"	"139324761"	"subst"	"0.00127089"	"02330"	"INPP5E_000008"	"g.139324761G>A"	""	""	""	"INPP5E(NM_019892.6):c.1770C>T (p.L590=)"	"VKGL data sharing initiative Nederland"	"CLASSIFICATION record"	""	""	"0"	""	""	"g.136430309G>A"	""	"benign"	""
"0000278076"	"0"	"10"	"9"	"139324740"	"139324740"	"subst"	"0.00407055"	"02330"	"INPP5E_000005"	"g.139324740C>G"	""	""	""	"INPP5E(NM_019892.5):c.1791G>C (p.P597=), INPP5E(NM_019892.6):c.1791G>C (p.P597=)"	"VKGL data sharing initiative Nederland"	"CLASSIFICATION record"	""	""	"0"	""	""	"g.136430288C>G"	""	"benign"	""
"0000278077"	"0"	"10"	"9"	"139329320"	"139329320"	"subst"	"0.000519488"	"02330"	"INPP5E_000030"	"g.139329320G>C"	""	""	""	"INPP5E(NM_019892.5):c.813-5C>G, INPP5E(NM_019892.6):c.813-5C>G"	"VKGL data sharing initiative Nederland"	"CLASSIFICATION record"	""	""	"0"	""	""	"g.136434868G>C"	""	"benign"	""
"0000281546"	"0"	"30"	"9"	"139326450"	"139326450"	"subst"	"0.00356142"	"02325"	"INPP5E_000016"	"g.139326450G>A"	""	""	""	"INPP5E(NM_019892.6):c.1388-13C>T"	"VKGL data sharing initiative Nederland"	"CLASSIFICATION record"	""	""	"0"	""	""	"g.136431998G>A"	""	"likely benign"	""
"0000281547"	"0"	"30"	"9"	"139324740"	"139324740"	"subst"	"0.00407055"	"02325"	"INPP5E_000005"	"g.139324740C>G"	""	""	""	"INPP5E(NM_019892.5):c.1791G>C (p.P597=), INPP5E(NM_019892.6):c.1791G>C (p.P597=)"	"VKGL data sharing initiative Nederland"	"CLASSIFICATION record"	""	""	"0"	""	""	"g.136430288C>G"	""	"likely benign"	""
"0000281548"	"0"	"10"	"9"	"139333054"	"139333057"	"del"	"0"	"02325"	"INPP5E_000032"	"g.139333054_139333057del"	""	""	""	"INPP5E(NM_019892.5):c.812+7_812+10delAGGG, INPP5E(NM_019892.6):c.812+7_812+10delAGGG"	"VKGL data sharing initiative Nederland"	"CLASSIFICATION record"	""	""	"0"	""	""	"g.136438602_136438605del"	""	"benign"	""
"0000285311"	"0"	"10"	"9"	"139333752"	"139333752"	"subst"	"0.000287171"	"02326"	"INPP5E_000035"	"g.139333752G>A"	""	""	""	"INPP5E(NM_019892.6):c.120C>T (p.P40=)"	"VKGL data sharing initiative Nederland"	"CLASSIFICATION record"	""	""	"0"	""	""	"g.136439300G>A"	""	"benign"	""
"0000285312"	"0"	"10"	"9"	"139326450"	"139326450"	"subst"	"0.00356142"	"02326"	"INPP5E_000016"	"g.139326450G>A"	""	""	""	"INPP5E(NM_019892.6):c.1388-13C>T"	"VKGL data sharing initiative Nederland"	"CLASSIFICATION record"	""	""	"0"	""	""	"g.136431998G>A"	""	"benign"	""
"0000285313"	"0"	"10"	"9"	"139324292"	"139324292"	"subst"	"0.0158939"	"02326"	"INPP5E_000003"	"g.139324292C>T"	""	""	""	"INPP5E(NM_019892.6):c.1803-33G>A"	"VKGL data sharing initiative Nederland"	"CLASSIFICATION record"	""	""	"0"	""	""	"g.136429840C>T"	""	"benign"	""
"0000285314"	"0"	"10"	"9"	"139333839"	"139333839"	"subst"	"0.00234489"	"02326"	"INPP5E_000036"	"g.139333839G>C"	""	""	""	"INPP5E(NM_019892.5):c.33C>G (p.S11=), INPP5E(NM_019892.6):c.33C>G (p.S11=)"	"VKGL data sharing initiative Nederland"	"CLASSIFICATION record"	""	""	"0"	""	""	"g.136439387G>C"	""	"benign"	""
"0000285315"	"0"	"10"	"9"	"139333300"	"139333300"	"subst"	"0.00058823"	"02326"	"INPP5E_000034"	"g.139333300G>C"	""	""	""	"INPP5E(NM_019892.6):c.572C>G (p.P191R)"	"VKGL data sharing initiative Nederland"	"CLASSIFICATION record"	""	""	"0"	""	""	"g.136438848G>C"	""	"benign"	""
"0000285316"	"0"	"10"	"9"	"139333269"	"139333269"	"subst"	"0.0201974"	"02326"	"INPP5E_000033"	"g.139333269G>C"	""	""	""	"INPP5E(NM_019892.5):c.603C>G (p.I201M), INPP5E(NM_019892.6):c.603C>G (p.I201M)"	"VKGL data sharing initiative Nederland"	"CLASSIFICATION record"	""	""	"0"	""	""	"g.136438817G>C"	""	"benign"	""
"0000289638"	"0"	"10"	"9"	"139327599"	"139327599"	"subst"	"0"	"01943"	"INPP5E_000025"	"g.139327599G>A"	""	""	""	"INPP5E(NM_019892.5):c.1159+8C>T, INPP5E(NM_019892.6):c.1159+8C>T"	"VKGL data sharing initiative Nederland"	"CLASSIFICATION record"	""	""	"0"	""	""	"g.136433147G>A"	""	"benign"	""
"0000289639"	"0"	"10"	"9"	"139326959"	"139326959"	"subst"	"0.0316658"	"01943"	"INPP5E_000019"	"g.139326959G>A"	""	""	""	"INPP5E(NM_019892.5):c.1359C>T (p.P453=)"	"VKGL data sharing initiative Nederland"	"CLASSIFICATION record"	""	""	"0"	""	""	"g.136432507G>A"	""	"benign"	""
"0000289640"	"0"	"30"	"9"	"139326912"	"139326912"	"subst"	"0.00204134"	"01943"	"INPP5E_000017"	"g.139326912G>A"	""	""	""	"INPP5E(NM_019892.5):c.1387+19C>T, INPP5E(NM_019892.6):c.1387+19C>T"	"VKGL data sharing initiative Nederland"	"CLASSIFICATION record"	""	""	"0"	""	""	"g.136432460G>A"	""	"likely benign"	""
"0000289641"	"0"	"30"	"9"	"139326922"	"139326922"	"subst"	"4.72163E-5"	"01943"	"INPP5E_000018"	"g.139326922C>T"	""	""	""	"INPP5E(NM_019892.5):c.1387+9G>A, INPP5E(NM_019892.6):c.1387+9G>A"	"VKGL data sharing initiative Nederland"	"CLASSIFICATION record"	""	""	"0"	""	""	"g.136432470C>T"	""	"likely benign"	""
"0000289642"	"0"	"30"	"9"	"139326319"	"139326319"	"subst"	"0.000865487"	"01943"	"INPP5E_000011"	"g.139326319C>T"	""	""	""	"INPP5E(NM_001318502.2):c.1503G>A (p.P501=), INPP5E(NM_019892.5):c.1506G>A (p.P502=)"	"VKGL data sharing initiative Nederland"	"CLASSIFICATION record"	""	""	"0"	""	""	"g.136431867C>T"	""	"likely benign"	""
"0000289643"	"0"	"10"	"9"	"139326304"	"139326304"	"subst"	"0.141632"	"01943"	"INPP5E_000010"	"g.139326304G>A"	""	""	""	"INPP5E(NM_019892.5):c.1521C>T (p.H507=)"	"VKGL data sharing initiative Nederland"	"CLASSIFICATION record"	""	""	"0"	""	""	"g.136431852G>A"	""	"benign"	""
"0000289644"	"0"	"30"	"9"	"139324743"	"139324743"	"subst"	"0"	"01943"	"INPP5E_000007"	"g.139324743C>T"	""	""	""	"INPP5E(NM_019892.5):c.1788G>A (p.R596=)"	"VKGL data sharing initiative Nederland"	"CLASSIFICATION record"	""	""	"0"	""	""	"g.136430291C>T"	""	"likely benign"	""
"0000289645"	"0"	"10"	"9"	"139324740"	"139324740"	"subst"	"0.147432"	"01943"	"INPP5E_000006"	"g.139324740C>T"	""	""	""	"INPP5E(NM_019892.5):c.1791G>A (p.P597=)"	"VKGL data sharing initiative Nederland"	"CLASSIFICATION record"	""	""	"0"	""	""	"g.136430288C>T"	""	"benign"	""
"0000289646"	"0"	"30"	"9"	"139324740"	"139324740"	"subst"	"0.00407055"	"01943"	"INPP5E_000005"	"g.139324740C>G"	""	""	""	"INPP5E(NM_019892.5):c.1791G>C (p.P597=), INPP5E(NM_019892.6):c.1791G>C (p.P597=)"	"VKGL data sharing initiative Nederland"	"CLASSIFICATION record"	""	""	"0"	""	""	"g.136430288C>G"	""	"likely benign"	""
"0000289647"	"0"	"10"	"9"	"139324737"	"139324737"	"subst"	"0.23094"	"01943"	"INPP5E_000004"	"g.139324737C>A"	""	""	""	"INPP5E(NM_019892.5):c.1794G>T (p.G598=)"	"VKGL data sharing initiative Nederland"	"CLASSIFICATION record"	""	""	"0"	""	""	"g.136430285C>A"	""	"benign"	""
"0000289648"	"0"	"10"	"9"	"139333839"	"139333839"	"subst"	"0.00234489"	"01943"	"INPP5E_000036"	"g.139333839G>C"	""	""	""	"INPP5E(NM_019892.5):c.33C>G (p.S11=), INPP5E(NM_019892.6):c.33C>G (p.S11=)"	"VKGL data sharing initiative Nederland"	"CLASSIFICATION record"	""	""	"0"	""	""	"g.136439387G>C"	""	"benign"	""
"0000289649"	"0"	"30"	"9"	"139333269"	"139333269"	"subst"	"0.0201974"	"01943"	"INPP5E_000033"	"g.139333269G>C"	""	""	""	"INPP5E(NM_019892.5):c.603C>G (p.I201M), INPP5E(NM_019892.6):c.603C>G (p.I201M)"	"VKGL data sharing initiative Nederland"	"CLASSIFICATION record"	""	""	"0"	""	""	"g.136438817G>C"	""	"likely benign"	""
"0000289650"	"0"	"10"	"9"	"139333054"	"139333057"	"del"	"0"	"01943"	"INPP5E_000031"	"g.139333054_139333057del"	""	""	""	"INPP5E(NM_019892.5):c.812+7_812+10delAGGG, INPP5E(NM_019892.6):c.812+7_812+10delAGGG"	"VKGL data sharing initiative Nederland"	"CLASSIFICATION record"	""	""	"0"	""	""	"g.136438602_136438605del"	""	"benign"	""
"0000289651"	"0"	"10"	"9"	"139328551"	"139328551"	"subst"	"0.144084"	"01943"	"INPP5E_000029"	"g.139328551T>C"	""	""	""	"INPP5E(NM_019892.5):c.972A>G (p.P324=)"	"VKGL data sharing initiative Nederland"	"CLASSIFICATION record"	""	""	"0"	""	""	"g.136434099T>C"	""	"benign"	""
"0000289652"	"0"	"30"	"9"	"139328548"	"139328548"	"subst"	"9.15088E-5"	"01943"	"INPP5E_000028"	"g.139328548G>A"	""	""	""	"INPP5E(NM_019892.5):c.975C>T (p.A325=)"	"VKGL data sharing initiative Nederland"	"CLASSIFICATION record"	""	""	"0"	""	""	"g.136434096G>A"	""	"likely benign"	""
"0000289653"	"0"	"30"	"9"	"139328542"	"139328542"	"subst"	"0.0131764"	"01943"	"INPP5E_000027"	"g.139328542G>A"	""	""	""	"INPP5E(NM_019892.5):c.981C>T (p.A327=)"	"VKGL data sharing initiative Nederland"	"CLASSIFICATION record"	""	""	"0"	""	""	"g.136434090G>A"	""	"likely benign"	""
"0000343182"	"0"	"50"	"9"	"139324201"	"139324201"	"subst"	"1.21832E-5"	"02327"	"INPP5E_000037"	"g.139324201G>A"	""	""	""	""	"VKGL data sharing initiative Nederland"	"CLASSIFICATION record"	""	""	"0"	""	""	"g.136429749G>A"	""	"VUS"	""
"0000346061"	"0"	"50"	"9"	"139327473"	"139327473"	"subst"	"0"	"02327"	"INPP5E_000038"	"g.139327473C>T"	""	""	""	""	"VKGL data sharing initiative Nederland"	"CLASSIFICATION record"	""	""	"0"	""	""	"g.136433021C>T"	""	"VUS"	""
"0000537174"	"0"	"50"	"9"	"139324801"	"139324801"	"subst"	"0.00486246"	"01943"	"INPP5E_000040"	"g.139324801G>C"	""	""	""	"INPP5E(NM_019892.5):c.1730C>G (p.P577R), INPP5E(NM_019892.6):c.1730C>G (p.P577R)"	"VKGL data sharing initiative Nederland"	"CLASSIFICATION record"	""	""	""	""	""	"g.136430349G>C"	""	"VUS"	""
"0000537175"	"0"	"10"	"9"	"139324801"	"139324801"	"subst"	"0.00486246"	"02325"	"INPP5E_000040"	"g.139324801G>C"	""	""	""	"INPP5E(NM_019892.5):c.1730C>G (p.P577R), INPP5E(NM_019892.6):c.1730C>G (p.P577R)"	"VKGL data sharing initiative Nederland"	"CLASSIFICATION record"	""	""	""	""	""	"g.136430349G>C"	""	"benign"	""
"0000537177"	"0"	"30"	"9"	"139325493"	"139325493"	"subst"	"3.66247E-5"	"01943"	"INPP5E_000042"	"g.139325493C>T"	""	""	""	"INPP5E(NM_019892.5):c.1626G>A (p.T542=)"	"VKGL data sharing initiative Nederland"	"CLASSIFICATION record"	""	""	""	""	""	"g.136431041C>T"	""	"likely benign"	""
"0000537178"	"0"	"50"	"9"	"139326368"	"139326368"	"subst"	"0.000102852"	"01943"	"INPP5E_000043"	"g.139326368C>T"	""	""	""	"INPP5E(NM_019892.5):c.1457G>A (p.R486H)"	"VKGL data sharing initiative Nederland"	"CLASSIFICATION record"	""	""	""	""	""	"g.136431916C>T"	""	"VUS"	""
"0000537179"	"0"	"30"	"9"	"139326373"	"139326373"	"subst"	"2.85927E-5"	"01943"	"INPP5E_000044"	"g.139326373G>A"	""	""	""	"INPP5E(NM_019892.5):c.1452C>T (p.G484=)"	"VKGL data sharing initiative Nederland"	"CLASSIFICATION record"	""	""	""	""	""	"g.136431921G>A"	""	"likely benign"	""
"0000537180"	"0"	"10"	"9"	"139326914"	"139326914"	"subst"	"1.35393E-5"	"02330"	"INPP5E_000045"	"g.139326914A>G"	""	""	""	"INPP5E(NM_019892.6):c.1387+17T>C"	"VKGL data sharing initiative Nederland"	"CLASSIFICATION record"	""	""	""	""	""	"g.136432462A>G"	""	"benign"	""
"0000537181"	"0"	"10"	"9"	"139327573"	"139327573"	"subst"	"0"	"02326"	"INPP5E_000046"	"g.139327573T>C"	""	""	""	"INPP5E(NM_019892.6):c.1159+34A>G"	"VKGL data sharing initiative Nederland"	"CLASSIFICATION record"	""	""	""	""	""	"g.136433121T>C"	""	"benign"	""
"0000537182"	"0"	"10"	"9"	"139327576"	"139327577"	"ins"	"0"	"02330"	"INPP5E_000047"	"g.139327576_139327577insTGCCACGCCCACCCCTCC"	""	""	""	"INPP5E(NM_019892.6):c.1159+33_1159+34insGGGGTGGGCGTGGCAGGA"	"VKGL data sharing initiative Nederland"	"CLASSIFICATION record"	""	""	""	""	""	"g.136433124_136433125insTGCCACGCCCACCCCTCC"	""	"benign"	""
"0000537183"	"0"	"10"	"9"	"139327607"	"139327608"	"ins"	"0"	"02330"	"INPP5E_000048"	"g.139327607_139327608insCCTCCAGCCACGCCCACC"	""	""	""	"INPP5E(NM_019892.5):c.1159+7_1159+8insTGGCTGGAGGGGTGGGCG, INPP5E(NM_019892.6):c.1159+7_1159+8insTGGCTGGAGGGGTGGGCG"	"VKGL data sharing initiative Nederland"	"CLASSIFICATION record"	""	""	""	""	""	"g.136433155_136433156insCCTCCAGCCACGCCCACC"	""	"benign"	""
"0000537184"	"0"	"30"	"9"	"139327607"	"139327608"	"ins"	"0"	"01943"	"INPP5E_000048"	"g.139327607_139327608insCCTCCAGCCACGCCCACC"	""	""	""	"INPP5E(NM_019892.5):c.1159+7_1159+8insTGGCTGGAGGGGTGGGCG, INPP5E(NM_019892.6):c.1159+7_1159+8insTGGCTGGAGGGGTGGGCG"	"VKGL data sharing initiative Nederland"	"CLASSIFICATION record"	""	""	""	""	""	"g.136433155_136433156insCCTCCAGCCACGCCCACC"	""	"likely benign"	""
"0000537185"	"0"	"10"	"9"	"139327607"	"139327608"	"ins"	"0"	"02326"	"INPP5E_000048"	"g.139327607_139327608insCCTCCAGCCACGCCCACC"	""	""	""	"INPP5E(NM_019892.5):c.1159+7_1159+8insTGGCTGGAGGGGTGGGCG, INPP5E(NM_019892.6):c.1159+7_1159+8insTGGCTGGAGGGGTGGGCG"	"VKGL data sharing initiative Nederland"	"CLASSIFICATION record"	""	""	""	""	""	"g.136433155_136433156insCCTCCAGCCACGCCCACC"	""	"benign"	""
"0000537186"	"0"	"10"	"9"	"139327607"	"139327608"	"ins"	"0"	"02330"	"INPP5E_000049"	"g.139327607_139327608insCCTCCAGCCACGCCCACCCCTCCAGCCACGCCCACC"	""	""	""	"INPP5E(NM_019892.6):c.1159+7_1159+8ins36"	"VKGL data sharing initiative Nederland"	"CLASSIFICATION record"	""	""	""	""	""	"g.136433155_136433156insCCTCCAGCCACGCCCACCCCTCCAGCCACGCCCACC"	""	"benign"	""
"0000537187"	"0"	"10"	"9"	"139327607"	"139327608"	"ins"	"0"	"02330"	"INPP5E_000050"	"g.139327607_139327608insCCTCCAGCCGCGCCCACCCCTCCAGCCGCGCCCACC"	""	""	""	"INPP5E(NM_019892.6):c.1159+33_1159+34ins36"	"VKGL data sharing initiative Nederland"	"CLASSIFICATION record"	""	""	""	""	""	"g.136433155_136433156insCCTCCAGCCGCGCCCACCCCTCCAGCCGCGCCCACC"	""	"benign"	""
"0000537188"	"0"	"10"	"9"	"139327607"	"139327608"	"ins"	"0"	"02330"	"INPP5E_000051"	"g.139327607_139327608insCCTCCAGCTGCGCCCACC"	""	""	""	"INPP5E(NM_019892.5):c.1159+8_1159+9insAGCTGGAGGGGTGGGCGC, INPP5E(NM_019892.6):c.1159+8_1159+9insAGCTGGAGGGGTGGGCGC"	"VKGL data sharing initiative Nederland"	"CLASSIFICATION record"	""	""	""	""	""	"g.136433155_136433156insCCTCCAGCTGCGCCCACC"	""	"benign"	""
"0000537189"	"0"	"10"	"9"	"139327607"	"139327608"	"ins"	"0"	"02326"	"INPP5E_000051"	"g.139327607_139327608insCCTCCAGCTGCGCCCACC"	""	""	""	"INPP5E(NM_019892.5):c.1159+8_1159+9insAGCTGGAGGGGTGGGCGC, INPP5E(NM_019892.6):c.1159+8_1159+9insAGCTGGAGGGGTGGGCGC"	"VKGL data sharing initiative Nederland"	"CLASSIFICATION record"	""	""	""	""	""	"g.136433155_136433156insCCTCCAGCTGCGCCCACC"	""	"benign"	""
"0000537190"	"0"	"10"	"9"	"139327607"	"139327608"	"ins"	"0"	"01943"	"INPP5E_000052"	"g.139327607_139327608insCCTCTAGCCACGCCCACC"	""	""	""	"INPP5E(NM_001318502.2):c.1159+7_1159+8insTGGCTAGAGGGGTGGGCG, INPP5E(NM_019892.5):c.1159+7_1159+8insTGGCTAGAGGGGTGGGCG, INPP5E(NM_019892.6):c.1159+7..."	"VKGL data sharing initiative Nederland"	"CLASSIFICATION record"	""	""	""	""	""	"g.136433155_136433156insCCTCTAGCCACGCCCACC"	""	"benign"	""
"0000537191"	"0"	"30"	"9"	"139328481"	"139328481"	"subst"	"1.32774E-5"	"01943"	"INPP5E_000053"	"g.139328481C>G"	""	""	""	"INPP5E(NM_019892.5):c.1034+8G>C"	"VKGL data sharing initiative Nederland"	"CLASSIFICATION record"	""	""	""	""	""	"g.136434029C>G"	""	"likely benign"	""
"0000537192"	"0"	"50"	"9"	"139329284"	"139329284"	"subst"	"0.000100986"	"02325"	"INPP5E_000054"	"g.139329284C>T"	""	""	""	"INPP5E(NM_019892.6):c.844G>A (p.G282R)"	"VKGL data sharing initiative Nederland"	"CLASSIFICATION record"	""	""	""	""	""	"g.136434832C>T"	""	"VUS"	""
"0000537193"	"0"	"30"	"9"	"139329323"	"139329323"	"subst"	"0.000796686"	"01943"	"INPP5E_000055"	"g.139329323G>A"	""	""	""	"INPP5E(NM_019892.5):c.813-8C>T"	"VKGL data sharing initiative Nederland"	"CLASSIFICATION record"	""	""	""	""	""	"g.136434871G>A"	""	"likely benign"	""
"0000537195"	"0"	"30"	"9"	"139333249"	"139333249"	"subst"	"0.000317521"	"01943"	"C9orf163_000002"	"g.139333249G>A"	""	""	""	"INPP5E(NM_019892.5):c.623C>T (p.T208I), INPP5E(NM_019892.6):c.623C>T (p.T208I)"	"VKGL data sharing initiative Nederland"	"CLASSIFICATION record"	""	""	""	""	""	"g.136438797G>A"	""	"likely benign"	""
"0000537196"	"0"	"30"	"9"	"139333286"	"139333286"	"subst"	"0"	"01943"	"C9orf163_000003"	"g.139333286C>A"	""	""	""	"INPP5E(NM_019892.5):c.586G>T (p.A196S)"	"VKGL data sharing initiative Nederland"	"CLASSIFICATION record"	""	""	""	""	""	"g.136438834C>A"	""	"likely benign"	""
"0000537197"	"0"	"50"	"9"	"139333441"	"139333441"	"subst"	"0"	"01943"	"C9orf163_000004"	"g.139333441C>T"	""	""	""	"INPP5E(NM_019892.5):c.431G>A (p.R144H)"	"VKGL data sharing initiative Nederland"	"CLASSIFICATION record"	""	""	""	""	""	"g.136438989C>T"	""	"VUS"	""
"0000611991"	"0"	"50"	"9"	"139324769"	"139324769"	"subst"	"2.67126E-5"	"01943"	"INPP5E_000057"	"g.139324769A>G"	""	""	""	"INPP5E(NM_019892.5):c.1762T>C (p.Y588H)"	"VKGL data sharing initiative Nederland"	"CLASSIFICATION record"	""	""	""	""	""	"g.136430317A>G"	""	"VUS"	""
"0000611992"	"0"	"30"	"9"	"139326944"	"139326944"	"subst"	"3.32336E-5"	"02330"	"INPP5E_000058"	"g.139326944A>G"	""	""	""	"INPP5E(NM_019892.6):c.1374T>C (p.Y458=)"	"VKGL data sharing initiative Nederland"	"CLASSIFICATION record"	""	""	""	""	""	"g.136432492A>G"	""	"likely benign"	""
"0000611993"	"0"	"10"	"9"	"139327590"	"139327607"	"dup"	"0"	"02330"	"INPP5E_000060"	"g.139327590_139327607dup"	""	""	""	"INPP5E(NM_019892.6):c.1159+16_1159+33dupGGGGTGGGCGCGGCTGGA"	"VKGL data sharing initiative Nederland"	"CLASSIFICATION record"	""	""	""	""	""	"g.136433138_136433155dup"	""	"benign"	""
"0000611994"	"0"	"90"	"9"	"139333646"	"139333646"	"dup"	"0"	"01943"	"C9orf163_000014"	"g.139333646dup"	""	""	""	"INPP5E(NM_019892.5):c.226dupG (p.A76Gfs*75)"	"VKGL data sharing initiative Nederland"	"CLASSIFICATION record"	""	""	""	""	""	"g.136439194dup"	""	"pathogenic"	""
"0000620290"	"11"	"90"	"9"	"139333173"	"139333173"	"dup"	"0"	"00006"	"INPP5E_000061"	"g.139333173dup"	""	"{PMID:Tsurusaki 2013:23034536}"	""	"700dupC"	""	"Germline"	"yes"	""	"0"	""	""	"g.136438721dup"	""	"pathogenic (recessive)"	""
"0000620295"	"21"	"90"	"9"	"139324200"	"139324200"	"subst"	"0"	"00006"	"INPP5E_000056"	"g.139324200C>T"	""	"{PMID:Tsurusaki 2013:23034536}"	""	""	""	"Germline"	"yes"	""	"0"	""	""	"g.136429748C>T"	""	"pathogenic (recessive)"	""
"0000622216"	"0"	"30"	"9"	"139327019"	"139327019"	"subst"	"0.000436828"	"02330"	"INPP5E_000059"	"g.139327019C>T"	""	""	""	"INPP5E(NM_001318502.2):c.1296G>A (p.A432=)"	"VKGL data sharing initiative Nederland"	"CLASSIFICATION record"	""	""	""	""	""	"g.136432567C>T"	""	"likely benign"	""
"0000652664"	"1"	"90"	"9"	"139327014"	"139327014"	"subst"	"0"	"03575"	"INPP5E_000001"	"g.139327014C>T"	"1/2793 individuals"	"{PMID:Narang 2020:32906206}, {DOI:Narang 2020:10.1002/humu.24102}"	""	""	"1 heterozygous, no homozygous; {DB:CLININrs121918129}"	"Germline"	""	"rs121918129"	"0"	""	""	"g.136432562C>T"	""	"pathogenic"	""
"0000656290"	"0"	"70"	"9"	"139326309"	"139326309"	"subst"	"0"	"02330"	"INPP5E_000062"	"g.139326309G>A"	""	""	""	"INPP5E(NM_001318502.2):c.1513C>T (p.Q505*)"	"VKGL data sharing initiative Nederland"	"CLASSIFICATION record"	""	""	""	""	""	"g.136431857G>A"	""	"likely pathogenic"	""
"0000656291"	"0"	"30"	"9"	"139327607"	"139327608"	"ins"	"0"	"01943"	"INPP5E_000051"	"g.139327607_139327608insCCTCCAGCTGCGCCCACC"	""	""	""	"INPP5E(NM_019892.5):c.1159+8_1159+9insAGCTGGAGGGGTGGGCGC, INPP5E(NM_019892.6):c.1159+8_1159+9insAGCTGGAGGGGTGGGCGC"	"VKGL data sharing initiative Nederland"	"CLASSIFICATION record"	""	""	""	""	""	"g.136433155_136433156insCCTCCAGCTGCGCCCACC"	""	"likely benign"	""
"0000656292"	"0"	"50"	"9"	"139329281"	"139329281"	"subst"	"0"	"02330"	"INPP5E_000063"	"g.139329281C>T"	""	""	""	"INPP5E(NM_001318502.2):c.847G>A (p.A283T)"	"VKGL data sharing initiative Nederland"	"CLASSIFICATION record"	""	""	""	""	""	"g.136434829C>T"	""	"VUS"	""
"0000656293"	"0"	"30"	"9"	"139333473"	"139333473"	"subst"	"0"	"01943"	"C9orf163_000015"	"g.139333473C>G"	""	""	""	"INPP5E(NM_019892.5):c.399G>C (p.L133=)"	"VKGL data sharing initiative Nederland"	"CLASSIFICATION record"	""	""	""	""	""	"g.136439021C>G"	""	"likely benign"	""
"0000678593"	"0"	"30"	"9"	"139324187"	"139324187"	"subst"	"0.000328926"	"01943"	"INPP5E_000064"	"g.139324187C>T"	""	""	""	"INPP5E(NM_001318502.2):c.1872G>A (p.E624=), INPP5E(NM_019892.5):c.1875G>A (p.E625=), INPP5E(NM_019892.6):c.1875G>A (p.E625=)"	"VKGL data sharing initiative Nederland"	"CLASSIFICATION record"	""	""	""	""	""	""	""	"likely benign"	""
"0000678594"	"0"	"50"	"9"	"139327693"	"139327693"	"subst"	"0"	"02327"	"INPP5E_000065"	"g.139327693G>A"	""	""	""	""	"VKGL data sharing initiative Nederland"	"CLASSIFICATION record"	""	""	""	""	""	""	""	"VUS"	""
"0000685256"	"0"	"70"	"9"	"139324200"	"139324200"	"subst"	"0"	"00004"	"INPP5E_000056"	"g.139324200C>T"	"1/2420 IRD families"	"{PMID:Sharon 2019:31456290}"	""	""	""	"Germline"	""	""	"0"	""	""	""	""	"likely pathogenic"	"ACMG"
"0000690462"	"0"	"70"	"9"	"139327702"	"139327702"	"subst"	"0"	"02325"	"INPP5E_000066"	"g.139327702G>A"	""	""	""	"INPP5E(NM_019892.6):c.1064C>T (p.T355M)"	"VKGL data sharing initiative Nederland"	"CLASSIFICATION record"	""	""	""	""	""	""	""	"likely pathogenic"	""
"0000722386"	"0"	"90"	"9"	"139333231"	"139333231"	"subst"	"0"	"01943"	"C9orf163_000020"	"g.139333231G>T"	""	""	""	"INPP5E(NM_019892.5):c.641C>A (p.S214*)"	"VKGL data sharing initiative Nederland"	"CLASSIFICATION record"	""	""	""	""	""	""	""	"pathogenic"	""
"0000722387"	"0"	"70"	"9"	"139333628"	"139333628"	"subst"	"0"	"01943"	"C9orf163_000021"	"g.139333628G>A"	""	""	""	"INPP5E(NM_019892.5):c.244C>T (p.R82*)"	"VKGL data sharing initiative Nederland"	"CLASSIFICATION record"	""	""	""	""	""	""	""	"likely pathogenic"	""
"0000730626"	"1"	"90"	"9"	"139329284"	"139329284"	"subst"	"0.000100986"	"00000"	"INPP5E_000054"	"g.139329284C>T"	""	"{PMID:Birtel 2018:29555955}"	""	""	""	"Germline"	""	""	"0"	""	""	"g.136434832C>T"	""	"pathogenic (recessive)"	""
"0000730796"	"2"	"90"	"9"	"139325490"	"139325490"	"subst"	"4.06974E-6"	"00000"	"INPP5E_000067"	"g.139325490G>T"	""	"{PMID:Birtel 2018:29555955}"	""	""	""	"Germline"	""	""	"0"	""	""	"g.136431038G>T"	""	"pathogenic (recessive)"	""
"0000731155"	"1"	"90"	"9"	"139327633"	"139327633"	"subst"	"0"	"00000"	"INPP5E_000068"	"g.139327633C>T"	""	"{PMID:Porto 2017:29186038}"	""	""	""	"Germline"	""	""	"0"	""	""	""	""	"pathogenic (recessive)"	""
"0000731176"	"2"	"90"	"9"	"139324200"	"139324200"	"subst"	"0"	"00000"	"INPP5E_000056"	"g.139324200C>T"	""	"{PMID:Porto 2017:29186038}"	""	"G1862G>A"	""	"Germline"	""	""	"0"	""	""	""	""	"pathogenic (recessive)"	""
"0000733076"	"1"	"70"	"9"	"139329254"	"139329254"	"subst"	"1.24219E-5"	"00000"	"INPP5E_000073"	"g.139329254G>C"	""	"{PMID:Stone 2017:28559085}"	""	""	""	"Germline"	""	""	"0"	""	""	"g.136434802G>C"	""	"likely pathogenic"	""
"0000733161"	"1"	"70"	"9"	"139324200"	"139324200"	"subst"	"0"	"00000"	"INPP5E_000056"	"g.139324200C>T"	""	"{PMID:Stone 2017:28559085}"	""	""	""	"Germline"	""	""	"0"	""	""	"g.136429748C>T"	""	"likely pathogenic"	""
"0000733335"	"1"	"70"	"9"	"139328579"	"139328579"	"subst"	"0"	"00000"	"INPP5E_000072"	"g.139328579G>A"	""	"{PMID:Stone 2017:28559085}"	""	""	""	"Germline"	""	""	"0"	""	""	"g.136434127G>A"	""	"likely pathogenic"	""
"0000733539"	"2"	"70"	"9"	"139324778"	"139324778"	"subst"	"0"	"00000"	"INPP5E_000070"	"g.139324778G>A"	""	"{PMID:Stone 2017:28559085}"	""	""	""	"Germline"	""	""	"0"	""	""	"g.136430326G>A"	""	"likely pathogenic"	""
"0000733601"	"2"	"70"	"9"	"139326282"	"139326282"	"subst"	"3.38518E-5"	"00000"	"INPP5E_000071"	"g.139326282G>A"	""	"{PMID:Stone 2017:28559085}"	""	""	""	"Germline"	""	""	"0"	""	""	"g.136431830G>A"	""	"likely pathogenic"	""
"0000733717"	"2"	"70"	"9"	"139324757"	"139324757"	"subst"	"6.69416E-6"	"00000"	"INPP5E_000069"	"g.139324757G>C"	""	"{PMID:Stone 2017:28559085}"	""	""	""	"Germline"	""	""	"0"	""	""	"g.136430305G>C"	""	"likely pathogenic"	""
"0000736837"	"1"	"10"	"9"	"139333311"	"139333312"	"ins"	"0.000422968"	"00000"	"INPP5E_000074"	"g.139333311_139333312insATGGGCAGC"	"1/486 individuals"	"{PMID:Sergouniotis 2016:27628848}"	""	""	"no genotypes reported"	"Germline"	""	"rs769234632"	"0"	""	""	"g.136438859_136438860insATGGGCAGC"	""	"benign"	""
"0000759752"	"11"	"90"	"9"	"139333173"	"139333173"	"dup"	"0"	"00000"	"INPP5E_000061"	"g.139333173dup"	""	"{PMID:Suzuki 2016:27434533}"	""	"c.700dupC"	""	"Germline"	""	""	"0"	""	""	"g.136438721dup"	""	"pathogenic"	""
"0000759770"	"11"	"90"	"9"	"139327014"	"139327014"	"subst"	"0"	"00000"	"INPP5E_000001"	"g.139327014C>T"	""	"{PMID:Suzuki 2016:27434533}"	""	""	""	"Germline"	""	""	"0"	""	""	"g.136432562C>T"	""	"pathogenic"	""
"0000759777"	"11"	"90"	"9"	"139333173"	"139333173"	"dup"	"0"	"00000"	"INPP5E_000061"	"g.139333173dup"	""	"{PMID:Suzuki 2016:27434533}"	""	"c.700dupC"	""	"Germline"	""	""	"0"	""	""	"g.136438721dup"	""	"pathogenic"	""
"0000759780"	"21"	"90"	"9"	"139324200"	"139324200"	"subst"	"0"	"00000"	"INPP5E_000056"	"g.139324200C>T"	""	"{PMID:Suzuki 2016:27434533}"	""	""	""	"Germline"	""	""	"0"	""	""	"g.136429748C>T"	""	"pathogenic"	""
"0000759793"	"21"	"90"	"9"	"139326399"	"139326399"	"subst"	"0"	"00000"	"INPP5E_000075"	"g.139326399C>T"	""	"{PMID:Suzuki 2016:27434533}"	""	""	""	"Germline"	""	""	"0"	""	""	"g.136431947C>T"	""	"pathogenic"	""
"0000759802"	"21"	"90"	"9"	"139324200"	"139324200"	"subst"	"0"	"00000"	"INPP5E_000056"	"g.139324200C>T"	""	"{PMID:Suzuki 2016:27434533}"	""	""	""	"Germline"	""	""	"0"	""	""	"g.136429748C>T"	""	"pathogenic"	""
"0000760060"	"0"	"50"	"9"	"139333126"	"139333126"	"subst"	"6.87744E-5"	"00000"	"INPP5E_000076"	"g.139333126G>A"	""	"{PMID:Tiwari 2016:27353947}"	""	""	""	"Germline"	""	""	"0"	""	""	"g.136438674G>A"	""	"VUS"	""
"0000783483"	"1"	"90"	"9"	"139329221"	"139329221"	"subst"	"1.23672E-5"	"00000"	"INPP5E_000089"	"g.139329221C>T"	""	"{PMID:Bachmann-Gagescu 2015:26092869}"	""	"NM_019892.4:c.907G>A"	""	"Germline"	""	""	"0"	""	""	"g.136434769C>T"	""	"pathogenic"	""
"0000783484"	"1"	"90"	"9"	"139324847"	"139324847"	"subst"	"0"	"00000"	"INPP5E_000081"	"g.139324847T>C"	""	"{PMID:Bachmann-Gagescu 2015:26092869}"	""	"NM_019892.4:c.1684A>G"	""	"Germline"	""	""	"0"	""	""	"g.136430395T>C"	""	"pathogenic"	""
"0000783485"	"1"	"90"	"9"	"139324847"	"139324847"	"subst"	"0"	"00000"	"INPP5E_000081"	"g.139324847T>C"	""	"{PMID:Bachmann-Gagescu 2015:26092869}"	""	"NM_019892.4:c.1684A>G"	""	"Germline"	""	""	"0"	""	""	"g.136430395T>C"	""	"pathogenic"	""
"0000783486"	"1"	"90"	"9"	"139327702"	"139327702"	"subst"	"0"	"00000"	"INPP5E_000066"	"g.139327702G>A"	""	"{PMID:Bachmann-Gagescu 2015:26092869}"	""	"NM_019892.4:c.1064C>T"	""	"Germline"	""	""	"0"	""	""	"g.136433250G>A"	""	"pathogenic"	""
"0000783487"	"1"	"90"	"9"	"139324771"	"139324771"	"del"	"1.33533E-5"	"00000"	"INPP5E_000079"	"g.139324771del"	""	"{PMID:Bachmann-Gagescu 2015:26092869}"	""	"NM_019892.4:c.1760delT"	""	"Germline"	""	""	"0"	""	""	"g.136430319del"	""	"pathogenic"	""
"0000783488"	"1"	"90"	"9"	"139324771"	"139324771"	"del"	"1.33533E-5"	"00000"	"INPP5E_000079"	"g.139324771del"	""	"{PMID:Bachmann-Gagescu 2015:26092869}"	""	"NM_019892.4:c.1760delT"	""	"Germline"	""	""	"0"	""	""	"g.136430319del"	""	"pathogenic"	""
"0000783489"	"1"	"90"	"9"	"139324777"	"139324777"	"subst"	"5.33127E-5"	"00000"	"INPP5E_000080"	"g.139324777C>T"	""	"{PMID:Bachmann-Gagescu 2015:26092869}"	""	"NM_019892.4:c.1754G>A"	""	"Germline"	""	""	"0"	""	""	"g.136430325C>T"	""	"pathogenic"	""
"0000783490"	"1"	"90"	"9"	"139324165"	"139324166"	"del"	"0"	"00000"	"INPP5E_000078"	"g.139324165_139324166del"	""	"{PMID:Bachmann-Gagescu 2015:26092869}"	""	"NM_019892.4:c.1897_1898delCA"	""	"Germline"	""	""	"0"	""	""	"g.136429713_136429714del"	""	"pathogenic"	""
"0000783491"	"3"	"90"	"9"	"139327612"	"139327612"	"subst"	"0"	"00000"	"INPP5E_000087"	"g.139327612C>T"	""	"{PMID:Bachmann-Gagescu 2015:26092869}"	""	"NM_019892.4:c.1154G>A"	""	"Germline"	""	""	"0"	""	""	"g.136433160C>T"	""	"pathogenic"	""
"0000783492"	"3"	"90"	"9"	"139327702"	"139327702"	"subst"	"0"	"00000"	"INPP5E_000066"	"g.139327702G>A"	""	"{PMID:Bachmann-Gagescu 2015:26092869}"	""	"NM_019892.4:c.1064C>T"	""	"Germline"	""	""	"0"	""	""	"g.136433250G>A"	""	"pathogenic"	""
"0000783493"	"1"	"90"	"9"	"139325542"	"139325542"	"subst"	"2.44421E-5"	"00000"	"INPP5E_000083"	"g.139325542G>A"	""	"{PMID:Bachmann-Gagescu 2015:26092869}"	""	"NM_019892.4:c.1577C>T"	""	"Germline"	""	""	"0"	""	""	"g.136431090G>A"	""	"pathogenic"	""
"0000783702"	"2"	"90"	"9"	"139328502"	"139328502"	"subst"	"8.41446E-6"	"00000"	"INPP5E_000088"	"g.139328502C>T"	""	"{PMID:Bachmann-Gagescu 2015:26092869}"	""	"NM_019892.4:c.1021G>A"	""	"Germline"	""	""	"0"	""	""	"g.136434050C>T"	""	"pathogenic"	""
"0000783703"	"2"	"90"	"9"	"139328502"	"139328502"	"subst"	"8.41446E-6"	"00000"	"INPP5E_000088"	"g.139328502C>T"	""	"{PMID:Bachmann-Gagescu 2015:26092869}"	""	"NM_019892.4:c.1021G>A"	""	"Germline"	""	""	"0"	""	""	"g.136434050C>T"	""	"pathogenic"	""
"0000783704"	"2"	"90"	"9"	"139328502"	"139328502"	"subst"	"8.41446E-6"	"00000"	"INPP5E_000088"	"g.139328502C>T"	""	"{PMID:Bachmann-Gagescu 2015:26092869}"	""	"NM_019892.4:c.1021G>A"	""	"Germline"	""	""	"0"	""	""	"g.136434050C>T"	""	"pathogenic"	""
"0000783705"	"2"	"90"	"9"	"139328579"	"139328579"	"subst"	"0"	"00000"	"INPP5E_000072"	"g.139328579G>A"	""	"{PMID:Bachmann-Gagescu 2015:26092869}"	""	"NM_019892.4:c.944C>T"	""	"Germline"	""	""	"0"	""	""	"g.136434127G>A"	""	"pathogenic"	""
"0000783706"	"2"	"90"	"9"	"139327525"	"139327525"	"subst"	"4.07461E-6"	"00000"	"INPP5E_000086"	"g.139327525C>A"	""	"{PMID:Bachmann-Gagescu 2015:26092869}"	""	"NM_019892.4:c.1162G>T"	""	"Germline"	""	""	"0"	""	""	"g.136433073C>A"	""	"pathogenic"	""
"0000783707"	"2"	"90"	"9"	"139327525"	"139327525"	"subst"	"4.07461E-6"	"00000"	"INPP5E_000086"	"g.139327525C>A"	""	"{PMID:Bachmann-Gagescu 2015:26092869}"	""	"NM_019892.4:c.1162G>T"	""	"Germline"	""	""	"0"	""	""	"g.136433073C>A"	""	"pathogenic"	""
"0000783708"	"2"	"90"	"9"	"139327438"	"139327438"	"subst"	"0"	"00000"	"INPP5E_000085"	"g.139327438A>G"	""	"{PMID:Bachmann-Gagescu 2015:26092869}"	""	"NM_019892.4:c.1249T>C"	""	"Germline"	""	""	"0"	""	""	"g.136432986A>G"	""	"pathogenic"	""
"0000783709"	"2"	"90"	"9"	"139327014"	"139327014"	"subst"	"0"	"00000"	"INPP5E_000001"	"g.139327014C>T"	""	"{PMID:Bachmann-Gagescu 2015:26092869}"	""	"NM_019892.4:c.1304G>A"	""	"Germline"	""	""	"0"	""	""	"g.136432562C>T"	""	"pathogenic"	""
"0000783710"	"2"	"90"	"9"	"139326357"	"139326357"	"subst"	"0"	"00000"	"INPP5E_000084"	"g.139326357C>A"	""	"{PMID:Bachmann-Gagescu 2015:26092869}"	""	"NM_019892.4:c.1468G>T"	""	"Germline"	""	""	"0"	""	""	"g.136431905C>A"	""	"pathogenic"	""
"0000783892"	"1"	"50"	"9"	"139324863"	"139324863"	"subst"	"0"	"00000"	"INPP5E_000082"	"g.139324863G>C"	""	"{PMID:Wang 2015:26047050}"	""	""	""	"Germline"	""	""	"0"	""	""	"g.136430411G>C"	""	"VUS"	""
"0000783978"	"2"	"50"	"9"	"139329280"	"139329280"	"subst"	"4.20069E-6"	"00000"	"INPP5E_000090"	"g.139329280G>A"	""	"{PMID:Wang 2015:26047050}"	""	""	""	"Germline"	""	""	"0"	""	""	"g.136434828G>A"	""	"VUS"	""
"0000783997"	"1"	"90"	"9"	"139327693"	"139327693"	"subst"	"0"	"00006"	"INPP5E_000065"	"g.139327693G>A"	"1/314 case chromosomes"	"{PMID:Xu 2015:25999675}"	""	""	""	"Germline"	""	""	"0"	""	""	""	""	"pathogenic (recessive)"	""
"0000783998"	"2"	"90"	"9"	"139324862"	"139324862"	"subst"	"0"	"00006"	"INPP5E_000077"	"g.139324862G>A"	"1/314 case chromosomes"	"{PMID:Xu 2015:25999675}"	""	""	""	"Germline"	""	""	"0"	""	""	""	""	"pathogenic (recessive)"	""
"0000785435"	"0"	"50"	"9"	"139324769"	"139324769"	"subst"	"2.67126E-5"	"00000"	"INPP5E_000057"	"g.139324769A>G"	""	"{PMID:Kroes 2016:25920555}"	""	""	""	"Germline"	""	""	"0"	""	""	"g.136430317A>G"	""	"VUS"	""
"0000791781"	"0"	"70"	"9"	"139333404"	"139333404"	"del"	"0"	"00000"	"INPP5E_000093"	"g.139333404del"	""	"{PMID:Brooks 2018:30055837}"	""	"c.473del; p.G158Vfs*40"	""	"Germline"	"?"	""	"0"	""	""	"g.136438952del"	""	"likely pathogenic"	""
"0000791782"	"0"	"70"	"9"	"139324200"	"139324200"	"subst"	"0"	"00000"	"INPP5E_000056"	"g.139324200C>T"	""	"{PMID:Brooks 2018:30055837}"	""	"c.1862G>A; p.R621G"	""	"Germline"	"?"	""	"0"	""	""	"g.136429748C>T"	""	"likely pathogenic"	""
"0000791783"	"3"	"70"	"9"	"139325554"	"139325554"	"subst"	"4.07697E-5"	"00000"	"INPP5E_000092"	"g.139325554C>G"	""	"{PMID:Brooks 2018:30055837}"	""	"c.1565G>C; p.G522A"	""	"Germline"	"?"	""	"0"	""	""	"g.136431102C>G"	""	"likely pathogenic"	""
"0000791784"	"3"	"70"	"9"	"139325554"	"139325554"	"subst"	"4.07697E-5"	"00000"	"INPP5E_000092"	"g.139325554C>G"	""	"{PMID:Brooks 2018:30055837}"	""	"c.1565G>C; p.G522A"	""	"Germline"	"?"	""	"0"	""	""	"g.136431102C>G"	""	"likely pathogenic"	""
"0000791868"	"0"	"70"	"9"	"139327014"	"139327014"	"subst"	"0"	"00000"	"INPP5E_000001"	"g.139327014C>T"	""	"{PMID:Brooks 2018:30055837}"	""	"c.1304G>A; p.R435G"	""	"Germline"	"?"	""	"0"	""	""	"g.136432562C>T"	""	"likely pathogenic"	""
"0000791869"	"0"	"70"	"9"	"139324746"	"139324749"	"del"	"0"	"00000"	"INPP5E_000091"	"g.139324746_139324749del"	""	"{PMID:Brooks 2018:30055837}"	""	"c.1784_1787del; p.V595Gfs*21"	""	"Germline"	"?"	""	"0"	""	""	"g.136430294_136430297del"	""	"likely pathogenic"	""
"0000796280"	"0"	"90"	"9"	"139324201"	"139324201"	"subst"	"1.21832E-5"	"00000"	"INPP5E_000037"	"g.139324201G>A"	""	"{PMID:Wang-2013:23847139}"	""	"c.1861C>T"	""	"Unknown"	""	""	"0"	""	""	""	""	"pathogenic"	""
"0000803982"	"0"	"30"	"9"	"139324740"	"139324740"	"subst"	"0.00407055"	"02326"	"INPP5E_000005"	"g.139324740C>G"	""	""	""	"INPP5E(NM_019892.5):c.1791G>C (p.P597=), INPP5E(NM_019892.6):c.1791G>C (p.P597=)"	"VKGL data sharing initiative Nederland"	"CLASSIFICATION record"	""	""	""	""	""	""	""	"likely benign"	""
"0000803983"	"0"	"10"	"9"	"139327607"	"139327608"	"ins"	"0"	"02330"	"INPP5E_000052"	"g.139327607_139327608insCCTCTAGCCACGCCCACC"	""	""	""	"INPP5E(NM_001318502.2):c.1159+7_1159+8insTGGCTAGAGGGGTGGGCG, INPP5E(NM_019892.5):c.1159+7_1159+8insTGGCTAGAGGGGTGGGCG, INPP5E(NM_019892.6):c.1159+7..."	"VKGL data sharing initiative Nederland"	"CLASSIFICATION record"	""	""	""	""	""	""	""	"benign"	""
"0000803984"	"0"	"50"	"9"	"139329253"	"139329253"	"subst"	"0.000318946"	"01943"	"INPP5E_000094"	"g.139329253C>T"	""	""	""	"INPP5E(NM_019892.5):c.875G>A (p.R292H)"	"VKGL data sharing initiative Nederland"	"CLASSIFICATION record"	""	""	""	""	""	""	""	"VUS"	""
"0000803985"	"0"	"30"	"9"	"139329320"	"139329320"	"subst"	"0.000519488"	"01943"	"INPP5E_000030"	"g.139329320G>C"	""	""	""	"INPP5E(NM_019892.5):c.813-5C>G, INPP5E(NM_019892.6):c.813-5C>G"	"VKGL data sharing initiative Nederland"	"CLASSIFICATION record"	""	""	""	""	""	""	""	"likely benign"	""
"0000811711"	"0"	"50"	"9"	"139333340"	"139333340"	"subst"	"7.42241E-5"	"00000"	"INPP5E_000096"	"g.139333340C>T"	""	"{PMID:Manara 2019:31196119}"	""	"INPP5E c.532G>A, p.Val178Met"	"heterozygous"	"Germline"	"?"	""	"0"	""	""	"g.136438888C>T"	""	"VUS"	"ACMG"
"0000811763"	"3"	"70"	"9"	"139324183"	"139324183"	"subst"	"0"	"00000"	"INPP5E_000095"	"g.139324183G>A"	""	"{PMID:Khan 2019:31173343}"	""	"c.1879C>T, p.Gln627*)"	""	"Germline/De novo (untested)"	"?"	""	"0"	""	""	"g.136429731G>A"	""	"likely pathogenic"	""
"0000811764"	"3"	"70"	"9"	"139324183"	"139324183"	"subst"	"0"	"00000"	"INPP5E_000095"	"g.139324183G>A"	""	"{PMID:Khan 2019:31173343}"	""	"c.1879C>T, p.Gln627*)"	""	"Germline/De novo (untested)"	"?"	""	"0"	""	""	"g.136429731G>A"	""	"likely pathogenic"	""
"0000811765"	"3"	"70"	"9"	"139324183"	"139324183"	"subst"	"0"	"00000"	"INPP5E_000095"	"g.139324183G>A"	""	"{PMID:Khan 2019:31173343}"	""	"c.1879C>T, p.Gln627*)"	""	"Germline/De novo (untested)"	"?"	""	"0"	""	""	"g.136429731G>A"	""	"likely pathogenic"	""
"0000811766"	"3"	"70"	"9"	"139324183"	"139324183"	"subst"	"0"	"00000"	"INPP5E_000095"	"g.139324183G>A"	""	"{PMID:Khan 2019:31173343}"	""	"c.1879C>T, p.Gln627*)"	""	"Germline/De novo (untested)"	"?"	""	"0"	""	""	"g.136429731G>A"	""	"likely pathogenic"	""
"0000811767"	"3"	"70"	"9"	"139324183"	"139324183"	"subst"	"0"	"00000"	"INPP5E_000095"	"g.139324183G>A"	""	"{PMID:Khan 2019:31173343}"	""	"c.1879C>T, p.Gln627*)"	""	"Germline/De novo (untested)"	"?"	""	"0"	""	""	"g.136429731G>A"	""	"likely pathogenic"	""
"0000811768"	"3"	"70"	"9"	"139324183"	"139324183"	"subst"	"0"	"00000"	"INPP5E_000095"	"g.139324183G>A"	""	"{PMID:Khan 2019:31173343}"	""	"c.1879C>T, p.Gln627*)"	""	"Germline/De novo (untested)"	"?"	""	"0"	""	""	"g.136429731G>A"	""	"likely pathogenic"	""
"0000811769"	"3"	"70"	"9"	"139324183"	"139324183"	"subst"	"0"	"00000"	"INPP5E_000095"	"g.139324183G>A"	""	"{PMID:Khan 2019:31173343}"	""	"c.1879C>T, p.Gln627*)"	""	"Germline/De novo (untested)"	"?"	""	"0"	""	""	"g.136429731G>A"	""	"likely pathogenic"	""
"0000811770"	"3"	"70"	"9"	"139324183"	"139324183"	"subst"	"0"	"00000"	"INPP5E_000095"	"g.139324183G>A"	""	"{PMID:Khan 2019:31173343}"	""	"c.1879C>T, p.Gln627*)"	""	"Germline/De novo (untested)"	"?"	""	"0"	""	""	"g.136429731G>A"	""	"likely pathogenic"	""
"0000817523"	"3"	"70"	"9"	"139327014"	"139327014"	"subst"	"0"	"00000"	"INPP5E_000001"	"g.139327014C>T"	""	"{PMID:Knopp 2015:26003401}"	""	"JBTS1:p.Arg435Gln"	""	"Germline"	""	""	"0"	""	""	""	""	"likely pathogenic"	""
"0000818390"	"3"	"90"	"9"	"139325554"	"139325554"	"subst"	"4.07697E-5"	"00000"	"INPP5E_000092"	"g.139325554C>G"	""	"{PMID:Summers 2017:28497568}"	""	"c.1565G>C"	""	"Germline"	""	""	"0"	""	""	""	""	"pathogenic"	""
"0000818391"	"3"	"90"	"9"	"139325554"	"139325554"	"subst"	"4.07697E-5"	"00000"	"INPP5E_000092"	"g.139325554C>G"	""	"{PMID:Summers 2017:28497568}"	""	"c.1565G>C"	""	"Germline"	""	""	"0"	""	""	""	""	"pathogenic"	""
"0000822176"	"0"	"90"	"9"	"139329221"	"139329221"	"subst"	"1.23672E-5"	"00000"	"INPP5E_000089"	"g.139329221C>T"	""	"{PMID:Toma-2018:29987673}"	""	"c.907G>A: p.V303M"	""	"Germline"	""	""	"0"	""	""	""	""	"pathogenic"	""
"0000822177"	"0"	"90"	"9"	"139324778"	"139324778"	"subst"	"0"	"00000"	"INPP5E_000070"	"g.139324778G>A"	""	"{PMID:Toma-2018:29987673}"	""	"c.1753C>T: p.R585C"	""	"Germline"	""	""	"0"	""	""	""	""	"pathogenic"	""
"0000822178"	"0"	"90"	"9"	"139329221"	"139329221"	"subst"	"1.23672E-5"	"00000"	"INPP5E_000089"	"g.139329221C>T"	""	"{PMID:Toma-2018:29987673}"	""	"c.907G>A: p.V303M"	""	"Germline"	""	""	"0"	""	""	""	""	"pathogenic"	""
"0000822179"	"0"	"90"	"9"	"139324778"	"139324778"	"subst"	"0"	"00000"	"INPP5E_000070"	"g.139324778G>A"	""	"{PMID:Toma-2018:29987673}"	""	"c.1753C>T: p.R585C"	""	"Germline"	""	""	"0"	""	""	""	""	"pathogenic"	""
"0000822184"	"0"	"50"	"9"	"139326939"	"139326939"	"subst"	"0"	"00000"	"INPP5E_000097"	"g.139326939G>C"	""	"{PMID:Toma-2018:29987673}"	""	"c.1379C>G; p.S460C"	"unknown variant 2nd chromosome"	"Germline"	""	""	"0"	""	""	""	""	"VUS"	""
"0000828478"	"3"	"70"	"9"	"139327730"	"139327730"	"subst"	"0"	"00000"	"INPP5E_000098"	"g.139327730G>A"	""	"{PMID:Perea-Romero 2021:34448047}"	""	"INPP5E,  c.1036C>T,  p.Arg346Trp, homozygous"	""	"Germline"	"yes"	""	"0"	""	""	"g.136433278G>A"	""	"likely pathogenic"	"ACMG"
"0000831402"	"3"	"90"	"12"	"139327015"	"139327015"	"subst"	"0"	"00000"	"INPP5E_000001"	"g.139327015G>C"	""	"{PMID:Sonmez 2020:25818971}"	""	"INPP5E c.1303C>G (p.R435G)"	""	"Unknown"	"?"	""	"0"	""	""	"g.136432563G>C"	""	"pathogenic"	""
"0000852178"	"0"	"50"	"9"	"139324735"	"139324735"	"subst"	"6.70718E-6"	"02327"	"INPP5E_000099"	"g.139324735C>T"	""	""	""	""	"VKGL data sharing initiative Nederland"	"CLASSIFICATION record"	""	""	""	""	""	""	""	"VUS"	""
"0000852179"	"0"	"30"	"9"	"139326319"	"139326319"	"subst"	"0.000865487"	"02330"	"INPP5E_000011"	"g.139326319C>T"	""	""	""	"INPP5E(NM_001318502.2):c.1503G>A (p.P501=), INPP5E(NM_019892.5):c.1506G>A (p.P502=)"	"VKGL data sharing initiative Nederland"	"CLASSIFICATION record"	""	""	""	""	""	""	""	"likely benign"	""
"0000852180"	"0"	"30"	"9"	"139326912"	"139326912"	"subst"	"0.00204134"	"02326"	"INPP5E_000017"	"g.139326912G>A"	""	""	""	"INPP5E(NM_019892.5):c.1387+19C>T, INPP5E(NM_019892.6):c.1387+19C>T"	"VKGL data sharing initiative Nederland"	"CLASSIFICATION record"	""	""	""	""	""	""	""	"likely benign"	""
"0000852181"	"0"	"70"	"9"	"139327015"	"139327015"	"subst"	"1.34329E-5"	"01943"	"INPP5E_000101"	"g.139327015G>A"	""	""	""	"INPP5E(NM_019892.5):c.1303C>T (p.R435W)"	"VKGL data sharing initiative Nederland"	"CLASSIFICATION record"	""	""	""	""	""	""	""	"likely pathogenic"	""
"0000852182"	"0"	"30"	"9"	"139327607"	"139327608"	"ins"	"0"	"02326"	"INPP5E_000052"	"g.139327607_139327608insCCTCTAGCCACGCCCACC"	""	""	""	"INPP5E(NM_001318502.2):c.1159+7_1159+8insTGGCTAGAGGGGTGGGCG, INPP5E(NM_019892.5):c.1159+7_1159+8insTGGCTAGAGGGGTGGGCG, INPP5E(NM_019892.6):c.1159+7..."	"VKGL data sharing initiative Nederland"	"CLASSIFICATION record"	""	""	""	""	""	""	""	"likely benign"	""
"0000852183"	"0"	"30"	"9"	"139329322"	"139329322"	"subst"	"3.64024E-5"	"01943"	"INPP5E_000102"	"g.139329322C>T"	""	""	""	"INPP5E(NM_019892.5):c.813-7G>A"	"VKGL data sharing initiative Nederland"	"CLASSIFICATION record"	""	""	""	""	""	""	""	"likely benign"	""
"0000852184"	"0"	"30"	"9"	"139333081"	"139333081"	"subst"	"0.000857045"	"02326"	"C9orf163_000001"	"g.139333081C>T"	""	""	""	"INPP5E(NM_019892.6):c.791G>A (p.R264H)"	"VKGL data sharing initiative Nederland"	"CLASSIFICATION record"	""	""	""	""	""	""	""	"likely benign"	""
"0000861567"	"0"	"30"	"9"	"139324187"	"139324187"	"subst"	"0.000328926"	"02330"	"INPP5E_000064"	"g.139324187C>T"	""	""	""	"INPP5E(NM_001318502.2):c.1872G>A (p.E624=), INPP5E(NM_019892.5):c.1875G>A (p.E625=), INPP5E(NM_019892.6):c.1875G>A (p.E625=)"	"VKGL data sharing initiative Nederland"	"CLASSIFICATION record"	""	""	""	""	""	""	""	"likely benign"	""
"0000861568"	"0"	"30"	"9"	"139326993"	"139326993"	"subst"	"0.000126814"	"01943"	"INPP5E_000100"	"g.139326993G>A"	""	""	""	"INPP5E(NM_019892.5):c.1325C>T (p.T442I), INPP5E(NM_019892.6):c.1325C>T (p.(Thr442Ile))"	"VKGL data sharing initiative Nederland"	"CLASSIFICATION record"	""	""	""	""	""	""	""	"likely benign"	""
"0000861569"	"0"	"10"	"9"	"139333236"	"139333236"	"subst"	"0.00276319"	"02326"	"C9orf163_000022"	"g.139333236G>T"	""	""	""	"INPP5E(NM_019892.6):c.636C>A (p.V212=)"	"VKGL data sharing initiative Nederland"	"CLASSIFICATION record"	""	""	""	""	""	""	""	"benign"	""
"0000861570"	"0"	"30"	"9"	"139333568"	"139333568"	"subst"	"0.000425532"	"01943"	"C9orf163_000005"	"g.139333568C>A"	""	""	""	"INPP5E(NM_019892.5):c.304G>T (p.D102Y), INPP5E(NM_019892.6):c.304G>T (p.D102Y)"	"VKGL data sharing initiative Nederland"	"CLASSIFICATION record"	""	""	""	""	""	""	""	"likely benign"	""
"0000874673"	"3"	"70"	"9"	"139327014"	"139327014"	"subst"	"0"	"00000"	"INPP5E_000001"	"g.139327014C>T"	"frequency in 1500 in-house samples: 0"	"{PMID:Alfares 2018:30202406}"	""	"INPP5E, NM_019892.4, c.1304G>A, p.Arg435Gln"	"homozygous"	"Unknown"	"?"	""	"0"	""	""	"g.136432562C>T"	""	"likely pathogenic"	"ACMG"
"0000888729"	"0"	"30"	"9"	"139324187"	"139324187"	"subst"	"0.000328926"	"02326"	"INPP5E_000064"	"g.139324187C>T"	""	""	""	"INPP5E(NM_001318502.2):c.1872G>A (p.E624=), INPP5E(NM_019892.5):c.1875G>A (p.E625=), INPP5E(NM_019892.6):c.1875G>A (p.E625=)"	"VKGL data sharing initiative Nederland"	"CLASSIFICATION record"	""	""	""	""	""	""	""	"likely benign"	""
"0000888730"	"0"	"30"	"9"	"139326258"	"139326258"	"subst"	"0.000250664"	"02326"	"INPP5E_000103"	"g.139326258G>A"	""	""	""	"INPP5E(NM_019892.6):c.1549+18C>T"	"VKGL data sharing initiative Nederland"	"CLASSIFICATION record"	""	""	""	""	""	""	""	"likely benign"	""
"0000888731"	"0"	"50"	"9"	"139327512"	"139327512"	"subst"	"4.47974E-5"	"02329"	"INPP5E_000104"	"g.139327512G>C"	""	""	""	"INPP5E(NM_001318502.2):c.1175C>G (p.T392R)"	"VKGL data sharing initiative Nederland"	"CLASSIFICATION record"	""	""	""	""	""	""	""	"VUS"	""
"0000888732"	"0"	"10"	"9"	"139327599"	"139327599"	"subst"	"0"	"02326"	"INPP5E_000025"	"g.139327599G>A"	""	""	""	"INPP5E(NM_019892.5):c.1159+8C>T, INPP5E(NM_019892.6):c.1159+8C>T"	"VKGL data sharing initiative Nederland"	"CLASSIFICATION record"	""	""	""	""	""	""	""	"benign"	""
"0000888733"	"0"	"30"	"9"	"139327662"	"139327662"	"subst"	"0"	"02326"	"INPP5E_000105"	"g.139327662G>A"	""	""	""	"INPP5E(NM_019892.6):c.1104C>T (p.H368=)"	"VKGL data sharing initiative Nederland"	"CLASSIFICATION record"	""	""	""	""	""	""	""	"likely benign"	""
"0000888734"	"0"	"30"	"9"	"139329179"	"139329179"	"subst"	"4.24293E-6"	"01804"	"INPP5E_000106"	"g.139329179C>A"	""	""	""	"INPP5E(NM_001318502.1):c.936+13G>T (p.(=))"	"VKGL data sharing initiative Nederland"	"CLASSIFICATION record"	""	""	""	""	""	""	""	"likely benign"	""
"0000888735"	"0"	"30"	"9"	"139333249"	"139333249"	"subst"	"0.000317521"	"02326"	"C9orf163_000002"	"g.139333249G>A"	""	""	""	"INPP5E(NM_019892.5):c.623C>T (p.T208I), INPP5E(NM_019892.6):c.623C>T (p.T208I)"	"VKGL data sharing initiative Nederland"	"CLASSIFICATION record"	""	""	""	""	""	""	""	"likely benign"	""
"0000888736"	"0"	"30"	"9"	"139333341"	"139333341"	"subst"	"0.00208714"	"02326"	"C9orf163_000023"	"g.139333341G>T"	""	""	""	"INPP5E(NM_019892.6):c.531C>A (p.A177=)"	"VKGL data sharing initiative Nederland"	"CLASSIFICATION record"	""	""	""	""	""	""	""	"likely benign"	""
"0000913123"	"0"	"50"	"9"	"139324861"	"139324861"	"subst"	"0"	"02330"	"INPP5E_000107"	"g.139324861C>T"	""	""	""	"INPP5E(NM_019892.6):c.1670G>A (p.R557H)"	"VKGL data sharing initiative Nederland"	"CLASSIFICATION record"	""	""	""	""	""	""	""	"VUS"	""
"0000913124"	"0"	"30"	"9"	"139327607"	"139327608"	"ins"	"0"	"02326"	"INPP5E_000049"	"g.139327607_139327608insCCTCCAGCCACGCCCACCCCTCCAGCCACGCCCACC"	""	""	""	"INPP5E(NM_019892.6):c.1159+7_1159+8ins36"	"VKGL data sharing initiative Nederland"	"CLASSIFICATION record"	""	""	""	""	""	""	""	"likely benign"	""
"0000913125"	"0"	"50"	"9"	"139328547"	"139328547"	"subst"	"0.000183076"	"02330"	"INPP5E_000108"	"g.139328547C>T"	""	""	""	"INPP5E(NM_019892.6):c.976G>A (p.E326K)"	"VKGL data sharing initiative Nederland"	"CLASSIFICATION record"	""	""	""	""	""	""	""	"VUS"	""
"0000925018"	"0"	"30"	"9"	"139328481"	"139328481"	"subst"	"0.00052667"	"02330"	"INPP5E_000109"	"g.139328481C>T"	""	""	""	"INPP5E(NM_019892.6):c.1034+8G>A"	"VKGL data sharing initiative Nederland"	"CLASSIFICATION record"	""	""	""	""	""	""	""	"likely benign"	""
"0000929569"	"0"	"30"	"9"	"139333568"	"139333568"	"subst"	"0.000425532"	"02326"	"C9orf163_000005"	"g.139333568C>A"	""	""	""	"INPP5E(NM_019892.5):c.304G>T (p.D102Y), INPP5E(NM_019892.6):c.304G>T (p.D102Y)"	"VKGL data sharing initiative Nederland"	"CLASSIFICATION record"	""	""	""	""	""	""	""	"likely benign"	""
"0000949248"	"0"	"30"	"9"	"139325583"	"139325583"	"subst"	"0.00359211"	"02326"	"INPP5E_000110"	"g.139325583G>A"	""	""	""	"INPP5E(NM_019892.6):c.1550-14C>T"	"VKGL data sharing initiative Nederland"	"CLASSIFICATION record"	""	""	""	""	""	""	""	"likely benign"	""
"0000978541"	"0"	"50"	"9"	"139326290"	"139326290"	"subst"	"2.49917E-5"	"01804"	"INPP5E_000111"	"g.139326290C>T"	""	""	""	"INPP5E(NM_019892.6):c.1535G>A (p.(Arg512Gln))"	"VKGL data sharing initiative Nederland"	"CLASSIFICATION record"	""	""	""	""	""	""	""	"VUS"	""
"0000978542"	"0"	"30"	"9"	"139326917"	"139326917"	"subst"	"0.00010136"	"02330"	"INPP5E_000112"	"g.139326917G>A"	""	""	""	"INPP5E(NM_019892.6):c.1387+14C>T"	"VKGL data sharing initiative Nederland"	"CLASSIFICATION record"	""	""	""	""	""	""	""	"likely benign"	""
"0000978543"	"0"	"30"	"9"	"139326922"	"139326922"	"subst"	"4.72163E-5"	"01804"	"INPP5E_000018"	"g.139326922C>T"	""	""	""	"INPP5E(NM_019892.5):c.1387+9G>A, INPP5E(NM_019892.6):c.1387+9G>A"	"VKGL data sharing initiative Nederland"	"CLASSIFICATION record"	""	""	""	""	""	""	""	"likely benign"	""
"0000978544"	"0"	"50"	"9"	"139327030"	"139327030"	"subst"	"0"	"01804"	"INPP5E_000113"	"g.139327030C>T"	""	""	""	"INPP5E(NM_019892.6):c.1288G>A (p.(Gly430Arg))"	"VKGL data sharing initiative Nederland"	"CLASSIFICATION record"	""	""	""	""	""	""	""	"VUS"	""
"0000978545"	"0"	"50"	"9"	"139327714"	"139327714"	"subst"	"0"	"01804"	"INPP5E_000114"	"g.139327714C>A"	""	""	""	"INPP5E(NM_019892.6):c.1052G>T (p.(Arg351Leu))"	"VKGL data sharing initiative Nederland"	"CLASSIFICATION record"	""	""	""	""	""	""	""	"VUS"	""
"0000978546"	"0"	"50"	"9"	"139333219"	"139333219"	"subst"	"2.51819E-5"	"01804"	"C9orf163_000024"	"g.139333219T>G"	""	""	""	"INPP5E(NM_019892.6):c.653A>C (p.(Asp218Ala))"	"VKGL data sharing initiative Nederland"	"CLASSIFICATION record"	""	""	""	""	""	""	""	"VUS"	""
"0000985266"	"1"	"70"	"9"	"139326981"	"139326981"	"subst"	"0"	"03544"	"INPP5E_000115"	"g.139326981A>T"	""	""	""	""	""	"Germline"	"yes"	""	"0"	""	""	"g.136432529A>T"	""	"likely pathogenic (recessive)"	"ACMG"
"0000985284"	"2"	"70"	"9"	"139327702"	"139327702"	"subst"	"0"	"03544"	"INPP5E_000066"	"g.139327702G>A"	""	""	""	""	""	"Germline"	""	""	"0"	""	""	"g.136433250G>A"	""	"likely pathogenic (recessive)"	""
"0000997657"	"0"	"50"	"9"	"139324179"	"139324179"	"subst"	"0"	"01804"	"INPP5E_000116"	"g.139324179C>T"	""	""	""	"INPP5E(NM_019892.4):c.1883G>A (p.(Arg628Lys))"	"VKGL data sharing initiative Nederland"	"CLASSIFICATION record"	""	""	""	""	""	""	""	"VUS"	""
"0000997658"	"0"	"50"	"9"	"139333070"	"139333084"	"del"	"0"	"01804"	"C9orf163_000025"	"g.139333070_139333084del"	""	""	""	"INPP5E(NM_019892.4):c.797_811delAGGACGTCCGCAGCA (p.(Lys266_Ser270del))"	"VKGL data sharing initiative Nederland"	"CLASSIFICATION record"	""	""	""	""	""	""	""	"VUS"	""
"0001008526"	"21"	"50"	"9"	"139327672"	"139327672"	"subst"	"0"	"00006"	"INPP5E_000120"	"g.139327672G>A"	""	"{PMID:Sangermano 2021:34188062}"	""	""	"ACMG PM1, PM2, PP3"	"Germline"	"yes"	""	"0"	""	""	"g.136433220G>A"	""	"VUS"	"ACMG"
"0001008527"	"3"	"70"	"9"	"139324200"	"139324200"	"subst"	"0"	"00006"	"INPP5E_000056"	"g.139324200C>T"	""	"{PMID:Sangermano 2021:34188062}"	""	""	"ACMG PM2, PM3, PM5, PP1"	"Germline"	"yes"	""	"0"	""	""	"g.136429748C>T"	""	"likely pathogenic (recessive)"	"ACMG"
"0001008528"	"3"	"70"	"9"	"139324200"	"139324200"	"subst"	"0"	"00006"	"INPP5E_000056"	"g.139324200C>T"	""	"{PMID:Sangermano 2021:34188062}"	""	""	"ACMG PM2, PM3, PM5, PP1"	"Germline"	"yes"	""	"0"	""	""	"g.136429748C>T"	""	"likely pathogenic (recessive)"	"ACMG"
"0001008529"	"3"	"70"	"9"	"139324200"	"139324200"	"subst"	"0"	"00006"	"INPP5E_000056"	"g.139324200C>T"	""	"{PMID:Sangermano 2021:34188062}"	""	""	"ACMG PM2, PM3, PM5, PP1"	"Germline"	"yes"	""	"0"	""	""	"g.136429748C>T"	""	"likely pathogenic (recessive)"	"ACMG"
"0001008530"	"21"	"70"	"9"	"139324861"	"139324861"	"subst"	"0"	"00006"	"INPP5E_000107"	"g.139324861C>T"	""	"{PMID:Sangermano 2021:34188062}"	""	""	"ACMG PM2, PM3, PM5,PS4_S"	"Germline"	"yes"	""	"0"	""	""	"g.136430409C>T"	""	"likely pathogenic (recessive)"	"ACMG"
"0001008531"	"1"	"70"	"9"	"139333404"	"139333404"	"dup"	"0"	"00006"	"INPP5E_000122"	"g.139333404dup"	""	"{PMID:Sangermano 2021:34188062}"	""	""	"ACMG PVS1, PM2"	"Germline"	"yes"	""	"0"	""	""	"g.136438952dup"	""	"likely pathogenic (recessive)"	"ACMG"
"0001008532"	"3"	"70"	"9"	"139333126"	"139333126"	"subst"	"6.87744E-5"	"00006"	"INPP5E_000076"	"g.139333126G>A"	""	"{PMID:Sangermano 2021:34188062}"	""	"[746C>T; 1787G>C]"	"ACMG PM1, PM2, PP3, PP1"	"Germline"	"yes"	""	"0"	""	""	"g.136438674G>A"	""	"likely pathogenic (recessive)"	"ACMG"
"0001008533"	"20"	"50"	"9"	"139329214"	"139329214"	"subst"	"0"	"00006"	"INPP5E_000121"	"g.139329214G>A"	""	"{PMID:Sangermano 2021:34188062}"	""	""	"ACMG PM1, PM2, PP3"	"Germline"	"yes"	""	"0"	""	""	"g.136434762G>A"	""	"VUS"	"ACMG"
"0001008534"	"1"	"70"	"9"	"139326423"	"139326423"	"subst"	"1.63499E-5"	"00006"	"INPP5E_000014"	"g.139326423G>A"	""	"{PMID:Sangermano 2021:34188062}"	""	""	"ACMG PM1, PM2, PP3, PP1"	"Germline"	"yes"	""	"0"	""	""	"g.136431971G>A"	""	"likely pathogenic (recessive)"	"ACMG"
"0001008535"	"1"	"70"	"9"	"139326369"	"139326369"	"subst"	"8.07686E-5"	"00006"	"INPP5E_000013"	"g.139326369G>A"	""	"{PMID:Sangermano 2021:34188062}"	""	""	"ACMG PM1, PM2, PP3, PP1"	"Germline"	"yes"	""	"0"	""	""	"g.136431917G>A"	""	"likely pathogenic (recessive)"	"ACMG"
"0001008536"	"1"	"70"	"9"	"139324777"	"139324777"	"subst"	"5.33127E-5"	"00006"	"INPP5E_000080"	"g.139324777C>T"	""	"{PMID:Sangermano 2021:34188062}"	""	""	"ACMG PM2, PM3, PP1, PP3"	"Germline"	"yes"	""	"0"	""	""	"g.136430325C>T"	""	"likely pathogenic (recessive)"	"ACMG"
"0001008537"	"3"	"50"	"9"	"139326432"	"139326432"	"subst"	"1.22745E-5"	"00006"	"INPP5E_000119"	"g.139326432C>T"	""	"{PMID:Sangermano 2021:34188062}"	""	""	"ACMG PM1, PM2, PP3"	"Germline"	"yes"	""	"0"	""	""	"g.136431980C>T"	""	"VUS"	"ACMG"
"0001008538"	"11"	"50"	"9"	"139324731"	"139324731"	"subst"	"0"	"00006"	"INPP5E_000117"	"g.139324731G>C"	""	"{PMID:Sangermano 2021:34188062}"	""	""	"ACMG PM1, PM2, PP3"	"Germline"	"yes"	""	"0"	""	""	"g.136430279G>C"	""	"VUS"	"ACMG"
"0001008539"	"3"	"70"	"9"	"139324744"	"139324744"	"subst"	"0"	"00006"	"INPP5E_000118"	"g.139324744C>G"	""	"{PMID:Sangermano 2021:34188062}"	""	"[746C>T; 1787G>C]"	"ACMG PM1, PM2, PP3, PP1"	"Germline"	"yes"	""	"0"	""	""	"g.136430292C>G"	""	"likely pathogenic (recessive)"	"ACMG"
"0001008540"	"11"	"70"	"9"	"139324777"	"139324777"	"subst"	"5.33127E-5"	"00006"	"INPP5E_000080"	"g.139324777C>T"	""	"{PMID:Sangermano 2021:34188062}"	""	""	"ACMG PM2, PM3, PP1, PP3"	"Germline"	"yes"	""	"0"	""	""	"g.136430325C>T"	""	"likely pathogenic (recessive)"	"ACMG"
"0001008541"	"2"	"70"	"9"	"139333126"	"139333126"	"subst"	"6.87744E-5"	"00006"	"INPP5E_000076"	"g.139333126G>A"	""	"{PMID:Sangermano 2021:34188062}"	""	"[746C>T; 1787G>C]"	"ACMG PM1, PM2, PP3, PP1"	"Germline"	"yes"	""	"0"	""	""	"g.136438674G>A"	""	"likely pathogenic (recessive)"	"ACMG"
"0001008542"	"2"	"70"	"9"	"139324744"	"139324744"	"subst"	"0"	"00006"	"INPP5E_000118"	"g.139324744C>G"	""	"{PMID:Sangermano 2021:34188062}"	""	"[746C>T; 1787G>C]"	"ACMG PM1, PM2, PP3, PP1"	"Germline"	"yes"	""	"0"	""	""	"g.136430292C>G"	""	"likely pathogenic (recessive)"	"ACMG"
"0001008543"	"11"	"70"	"9"	"139326369"	"139326369"	"subst"	"8.07686E-5"	"00006"	"INPP5E_000013"	"g.139326369G>A"	""	"{PMID:Sangermano 2021:34188062}"	""	""	"ACMG PM1, PM2, PP3, PP1"	"Germline"	"yes"	""	"0"	""	""	"g.136431917G>A"	""	"likely pathogenic (recessive)"	"ACMG"
"0001008544"	"2"	"70"	"9"	"139324201"	"139324201"	"subst"	"1.21832E-5"	"00006"	"INPP5E_000037"	"g.139324201G>A"	""	"{PMID:Sangermano 2021:34188062}"	""	""	"ACMG PM2, PM3, PP1, PM5"	"Germline"	"yes"	""	"0"	""	""	"g.136429749G>A"	""	"likely pathogenic (recessive)"	"ACMG"
"0001008545"	"2"	"50"	"9"	"139325542"	"139325542"	"subst"	"2.44421E-5"	"00006"	"INPP5E_000083"	"g.139325542G>A"	""	"{PMID:Sangermano 2021:34188062}"	""	""	"ACMG PM1, PM2, PP3"	"Germline"	"yes"	""	"0"	""	""	"g.136431090G>A"	""	"VUS"	"ACMG"
"0001008546"	"2"	"70"	"9"	"139324771"	"139324771"	"del"	"1.33533E-5"	"00006"	"INPP5E_000079"	"g.139324771del"	""	"{PMID:Sangermano 2021:34188062}"	""	"1760delT"	"ACMG PVS1, PM2"	"Germline"	"yes"	""	"0"	""	""	"g.136430319del"	""	"likely pathogenic (recessive)"	"ACMG"
"0001025639"	"0"	"50"	"9"	"139333403"	"139333403"	"subst"	"0.000548056"	"01943"	"C9orf163_000030"	"g.139333403C>A"	""	""	""	"INPP5E(NM_019892.5):c.469G>T (p.G157W)"	"VKGL data sharing initiative Nederland"	"CLASSIFICATION record"	""	""	""	""	""	""	""	"VUS"	""
"0001037314"	"0"	"50"	"9"	"139324757"	"139324757"	"subst"	"6.69416E-6"	"01804"	"INPP5E_000069"	"g.139324757G>C"	""	""	""	"INPP5E(NM_019892.6):c.1774C>G (p.(Arg592Gly))"	"VKGL data sharing initiative Nederland"	"CLASSIFICATION record"	""	""	""	""	""	""	""	"VUS"	""
"0001037315"	"0"	"50"	"9"	"139324859"	"139324859"	"subst"	"6.48441E-6"	"01804"	"INPP5E_000123"	"g.139324859C>A"	""	""	""	"INPP5E(NM_019892.6):c.1672G>T (p.(Val558Phe))"	"VKGL data sharing initiative Nederland"	"CLASSIFICATION record"	""	""	""	""	""	""	""	"VUS"	""
"0001037316"	"0"	"50"	"9"	"139326958"	"139326958"	"subst"	"9.27791E-5"	"01804"	"INPP5E_000124"	"g.139326958C>T"	""	""	""	"INPP5E(NM_019892.6):c.1360G>A (p.(Asp454Asn))"	"VKGL data sharing initiative Nederland"	"CLASSIFICATION record"	""	""	""	""	""	""	""	"VUS"	""
"0001037317"	"0"	"50"	"9"	"139326993"	"139326993"	"subst"	"0.000126814"	"01804"	"INPP5E_000100"	"g.139326993G>A"	""	""	""	"INPP5E(NM_019892.5):c.1325C>T (p.T442I), INPP5E(NM_019892.6):c.1325C>T (p.(Thr442Ile))"	"VKGL data sharing initiative Nederland"	"CLASSIFICATION record"	""	""	""	""	""	""	""	"VUS"	""
"0001053426"	"0"	"50"	"9"	"139325504"	"139325504"	"subst"	"2.03494E-5"	"01804"	"INPP5E_000125"	"g.139325504C>T"	""	""	""	"INPP5E(NM_019892.6):c.1615G>A (p.(Gly539Arg))"	"VKGL data sharing initiative Nederland"	"CLASSIFICATION record"	""	""	""	""	""	""	""	"VUS"	""
"0001053427"	"0"	"50"	"9"	"139328541"	"139328541"	"subst"	"0"	"01804"	"INPP5E_000126"	"g.139328541C>T"	""	""	""	"INPP5E(NM_019892.6):c.982G>A (p.(Asp328Asn))"	"VKGL data sharing initiative Nederland"	"CLASSIFICATION record"	""	""	""	""	""	""	""	"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 INPP5E
## Count = 217
"{{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}}"
"0000052265"	"00010055"	"70"	"1304"	"0"	"1304"	"0"	"c.1304G>A"	"r.(?)"	"p.(Arg435Gln)"	"6"
"0000052266"	"00010055"	"70"	"856"	"0"	"856"	"0"	"c.856G>A"	"r.(?)"	"p.(Gly286Arg)"	"2"
"0000247962"	"00010055"	"10"	"1284"	"0"	"1284"	"0"	"c.1284T>C"	"r.(?)"	"p.(Gly428=)"	""
"0000247963"	"00010055"	"10"	"1248"	"0"	"1248"	"0"	"c.1248T>C"	"r.(?)"	"p.(Thr416=)"	""
"0000252178"	"00010055"	"30"	"1388"	"-10"	"1388"	"-10"	"c.1388-10T>C"	"r.(=)"	"p.(=)"	""
"0000253223"	"00010055"	"10"	"1284"	"0"	"1284"	"0"	"c.1284T>C"	"r.(?)"	"p.(Gly428=)"	""
"0000253224"	"00010055"	"10"	"1248"	"0"	"1248"	"0"	"c.1248T>C"	"r.(?)"	"p.(Thr416=)"	""
"0000278068"	"00010055"	"50"	"1015"	"0"	"1015"	"0"	"c.1015C>T"	"r.(?)"	"p.(Gln339Ter)"	""
"0000278073"	"00010055"	"30"	"1402"	"0"	"1402"	"0"	"c.1402C>T"	"r.(?)"	"p.(Arg468Cys)"	""
"0000278074"	"00010055"	"30"	"1551"	"0"	"1551"	"0"	"c.1551G>T"	"r.(?)"	"p.(Gly517=)"	""
"0000278075"	"00010055"	"10"	"1770"	"0"	"1770"	"0"	"c.1770C>T"	"r.(?)"	"p.(Leu590=)"	""
"0000278076"	"00010055"	"10"	"1791"	"0"	"1791"	"0"	"c.1791G>C"	"r.(?)"	"p.(Pro597=)"	""
"0000278077"	"00010055"	"10"	"813"	"-5"	"813"	"-5"	"c.813-5C>G"	"r.spl?"	"p.?"	""
"0000281546"	"00010055"	"30"	"1388"	"-13"	"1388"	"-13"	"c.1388-13C>T"	"r.(=)"	"p.(=)"	""
"0000281547"	"00010055"	"30"	"1791"	"0"	"1791"	"0"	"c.1791G>C"	"r.(?)"	"p.(Pro597=)"	""
"0000281548"	"00010055"	"10"	"812"	"7"	"812"	"10"	"c.812+7_812+10del"	"r.(=)"	"p.(=)"	""
"0000285311"	"00010055"	"10"	"120"	"0"	"120"	"0"	"c.120C>T"	"r.(?)"	"p.(Pro40=)"	""
"0000285312"	"00010055"	"10"	"1388"	"-13"	"1388"	"-13"	"c.1388-13C>T"	"r.(=)"	"p.(=)"	""
"0000285313"	"00010055"	"10"	"1803"	"-33"	"1803"	"-33"	"c.1803-33G>A"	"r.(=)"	"p.(=)"	""
"0000285314"	"00010055"	"10"	"33"	"0"	"33"	"0"	"c.33C>G"	"r.(?)"	"p.(Ser11=)"	""
"0000285315"	"00010055"	"10"	"572"	"0"	"572"	"0"	"c.572C>G"	"r.(?)"	"p.(Pro191Arg)"	""
"0000285316"	"00010055"	"10"	"603"	"0"	"603"	"0"	"c.603C>G"	"r.(?)"	"p.(Ile201Met)"	""
"0000289638"	"00010055"	"10"	"1159"	"8"	"1159"	"8"	"c.1159+8C>T"	"r.(=)"	"p.(=)"	""
"0000289639"	"00010055"	"10"	"1359"	"0"	"1359"	"0"	"c.1359C>T"	"r.(?)"	"p.(Pro453=)"	""
"0000289640"	"00010055"	"30"	"1387"	"19"	"1387"	"19"	"c.1387+19C>T"	"r.(=)"	"p.(=)"	""
"0000289641"	"00010055"	"30"	"1387"	"9"	"1387"	"9"	"c.1387+9G>A"	"r.(=)"	"p.(=)"	""
"0000289642"	"00010055"	"30"	"1506"	"0"	"1506"	"0"	"c.1506G>A"	"r.(?)"	"p.(Pro502=)"	""
"0000289643"	"00010055"	"10"	"1521"	"0"	"1521"	"0"	"c.1521C>T"	"r.(?)"	"p.(His507=)"	""
"0000289644"	"00010055"	"30"	"1788"	"0"	"1788"	"0"	"c.1788G>A"	"r.(?)"	"p.(Arg596=)"	""
"0000289645"	"00010055"	"10"	"1791"	"0"	"1791"	"0"	"c.1791G>A"	"r.(?)"	"p.(Pro597=)"	""
"0000289646"	"00010055"	"30"	"1791"	"0"	"1791"	"0"	"c.1791G>C"	"r.(?)"	"p.(Pro597=)"	""
"0000289647"	"00010055"	"10"	"1794"	"0"	"1794"	"0"	"c.1794G>T"	"r.(?)"	"p.(Gly598=)"	""
"0000289648"	"00010055"	"10"	"33"	"0"	"33"	"0"	"c.33C>G"	"r.(?)"	"p.(Ser11=)"	""
"0000289649"	"00010055"	"30"	"603"	"0"	"603"	"0"	"c.603C>G"	"r.(?)"	"p.(Ile201Met)"	""
"0000289650"	"00010055"	"10"	"812"	"7"	"812"	"10"	"c.812+7_812+10del"	"r.(=)"	"p.(=)"	""
"0000289651"	"00010055"	"10"	"972"	"0"	"972"	"0"	"c.972A>G"	"r.(?)"	"p.(Pro324=)"	""
"0000289652"	"00010055"	"30"	"975"	"0"	"975"	"0"	"c.975C>T"	"r.(?)"	"p.(Ala325=)"	""
"0000289653"	"00010055"	"30"	"981"	"0"	"981"	"0"	"c.981C>T"	"r.(?)"	"p.(Ala327=)"	""
"0000343182"	"00010055"	"50"	"1861"	"0"	"1861"	"0"	"c.1861C>T"	"r.(?)"	"p.(Arg621Trp)"	""
"0000346061"	"00010055"	"50"	"1214"	"0"	"1214"	"0"	"c.1214G>A"	"r.(?)"	"p.(Gly405Glu)"	""
"0000537174"	"00010055"	"50"	"1730"	"0"	"1730"	"0"	"c.1730C>G"	"r.(?)"	"p.(Pro577Arg)"	""
"0000537175"	"00010055"	"10"	"1730"	"0"	"1730"	"0"	"c.1730C>G"	"r.(?)"	"p.(Pro577Arg)"	""
"0000537177"	"00010055"	"30"	"1626"	"0"	"1626"	"0"	"c.1626G>A"	"r.(?)"	"p.(Thr542=)"	""
"0000537178"	"00010055"	"50"	"1457"	"0"	"1457"	"0"	"c.1457G>A"	"r.(?)"	"p.(Arg486His)"	""
"0000537179"	"00010055"	"30"	"1452"	"0"	"1452"	"0"	"c.1452C>T"	"r.(?)"	"p.(Gly484=)"	""
"0000537180"	"00010055"	"10"	"1387"	"17"	"1387"	"17"	"c.1387+17T>C"	"r.(=)"	"p.(=)"	""
"0000537181"	"00010055"	"10"	"1159"	"34"	"1159"	"34"	"c.1159+34A>G"	"r.(=)"	"p.(=)"	""
"0000537182"	"00010055"	"10"	"1159"	"33"	"1159"	"34"	"c.1159+33_1159+34insGGGGTGGGCGTGGCAGGA"	"r.(=)"	"p.(=)"	""
"0000537183"	"00010055"	"10"	"1159"	"7"	"1159"	"8"	"c.1159+7_1159+8insTGGCTGGAGGGGTGGGCG"	"r.(=)"	"p.(=)"	""
"0000537184"	"00010055"	"30"	"1159"	"7"	"1159"	"8"	"c.1159+7_1159+8insTGGCTGGAGGGGTGGGCG"	"r.(=)"	"p.(=)"	""
"0000537185"	"00010055"	"10"	"1159"	"7"	"1159"	"8"	"c.1159+7_1159+8insTGGCTGGAGGGGTGGGCG"	"r.(=)"	"p.(=)"	""
"0000537186"	"00010055"	"10"	"1159"	"7"	"1159"	"8"	"c.1159+7_1159+8insTGGCTGGAGGGGTGGGCGTGGCTGGAGGGGTGGGCG"	"r.(=)"	"p.(=)"	""
"0000537187"	"00010055"	"10"	"1159"	"33"	"1159"	"34"	"c.1159+33_1159+34insGGGGTGGGCGCGGCTGGAGGGGTGGGCGCGGCTGGA"	"r.(=)"	"p.(=)"	""
"0000537188"	"00010055"	"10"	"1159"	"8"	"1159"	"9"	"c.1159+8_1159+9insAGCTGGAGGGGTGGGCGC"	"r.(=)"	"p.(=)"	""
"0000537189"	"00010055"	"10"	"1159"	"8"	"1159"	"9"	"c.1159+8_1159+9insAGCTGGAGGGGTGGGCGC"	"r.(=)"	"p.(=)"	""
"0000537190"	"00010055"	"10"	"1159"	"7"	"1159"	"8"	"c.1159+7_1159+8insTGGCTAGAGGGGTGGGCG"	"r.(=)"	"p.(=)"	""
"0000537191"	"00010055"	"30"	"1034"	"8"	"1034"	"8"	"c.1034+8G>C"	"r.(=)"	"p.(=)"	""
"0000537192"	"00010055"	"50"	"844"	"0"	"844"	"0"	"c.844G>A"	"r.(?)"	"p.(Gly282Arg)"	""
"0000537193"	"00010055"	"30"	"813"	"-8"	"813"	"-8"	"c.813-8C>T"	"r.(=)"	"p.(=)"	""
"0000537195"	"00010055"	"30"	"623"	"0"	"623"	"0"	"c.623C>T"	"r.(?)"	"p.(Thr208Ile)"	""
"0000537196"	"00010055"	"30"	"586"	"0"	"586"	"0"	"c.586G>T"	"r.(?)"	"p.(Ala196Ser)"	""
"0000537197"	"00010055"	"50"	"431"	"0"	"431"	"0"	"c.431G>A"	"r.(?)"	"p.(Arg144His)"	""
"0000611991"	"00010055"	"50"	"1762"	"0"	"1762"	"0"	"c.1762T>C"	"r.(?)"	"p.(Tyr588His)"	""
"0000611992"	"00010055"	"30"	"1374"	"0"	"1374"	"0"	"c.1374T>C"	"r.(?)"	"p.(Tyr458=)"	""
"0000611993"	"00010055"	"10"	"1159"	"16"	"1159"	"33"	"c.1159+16_1159+33dup"	"r.(=)"	"p.(=)"	""
"0000611994"	"00010055"	"90"	"226"	"0"	"226"	"0"	"c.226dup"	"r.(?)"	"p.(Ala76GlyfsTer75)"	""
"0000620290"	"00010055"	"90"	"700"	"0"	"700"	"0"	"c.700dup"	"r.(?)"	"p.(Leu234Profs*56)"	""
"0000620295"	"00010055"	"90"	"1862"	"0"	"1862"	"0"	"c.1862G>A"	"r.(?)"	"p.(Arg621Gln)"	""
"0000622216"	"00010055"	"30"	"1299"	"0"	"1299"	"0"	"c.1299G>A"	"r.(?)"	"p.(Ala433=)"	""
"0000652664"	"00010055"	"90"	"1304"	"0"	"1304"	"0"	"c.1304G>A"	"r.(?)"	"p.(Arg435Gln)"	""
"0000656290"	"00010055"	"70"	"1516"	"0"	"1516"	"0"	"c.1516C>T"	"r.(?)"	"p.(Gln506Ter)"	""
"0000656291"	"00010055"	"30"	"1159"	"8"	"1159"	"9"	"c.1159+8_1159+9insAGCTGGAGGGGTGGGCGC"	"r.(=)"	"p.(=)"	""
"0000656292"	"00010055"	"50"	"847"	"0"	"847"	"0"	"c.847G>A"	"r.(?)"	"p.(Ala283Thr)"	""
"0000656293"	"00010055"	"30"	"399"	"0"	"399"	"0"	"c.399G>C"	"r.(?)"	"p.(Leu133=)"	""
"0000678593"	"00010055"	"30"	"1875"	"0"	"1875"	"0"	"c.1875G>A"	"r.(?)"	"p.(Glu625=)"	""
"0000678594"	"00010055"	"50"	"1073"	"0"	"1073"	"0"	"c.1073C>T"	"r.(?)"	"p.(Pro358Leu)"	""
"0000685256"	"00010055"	"70"	"1862"	"0"	"1862"	"0"	"c.1862G>A"	"r.(?)"	"p.(Arg621Gln)"	""
"0000690462"	"00010055"	"70"	"1064"	"0"	"1064"	"0"	"c.1064C>T"	"r.(?)"	"p.(Thr355Met)"	""
"0000722386"	"00010055"	"90"	"641"	"0"	"641"	"0"	"c.641C>A"	"r.(?)"	"p.(Ser214*)"	""
"0000722387"	"00010055"	"70"	"244"	"0"	"244"	"0"	"c.244C>T"	"r.(?)"	"p.(Arg82*)"	""
"0000730626"	"00010055"	"90"	"844"	"0"	"844"	"0"	"c.844G>A"	"r.(?)"	"p.(Gly282Arg)"	"2"
"0000730796"	"00010055"	"90"	"1629"	"0"	"1629"	"0"	"c.1629C>A"	"r.(?)"	"p.(Tyr543*)"	"8"
"0000731155"	"00010055"	"90"	"1133"	"0"	"1133"	"0"	"c.1133G>A"	"r.(?)"	"p.(Arg378His)"	""
"0000731176"	"00010055"	"90"	"1862"	"0"	"1862"	"0"	"c.1862G>A"	"r.(?)"	"p.(Arg621Gln)"	""
"0000733076"	"00010055"	"70"	"874"	"0"	"874"	"0"	"c.874C>G"	"r.(?)"	"p.(Arg292Gly)"	""
"0000733161"	"00010055"	"70"	"1862"	"0"	"1862"	"0"	"c.1862G>A"	"r.(?)"	"p.(Arg621Gln)"	""
"0000733335"	"00010055"	"70"	"944"	"0"	"944"	"0"	"c.944C>T"	"r.(?)"	"p.(Pro315Leu)"	""
"0000733539"	"00010055"	"70"	"1753"	"0"	"1753"	"0"	"c.1753C>T"	"r.(?)"	"p.(Arg585Cys)"	""
"0000733601"	"00010055"	"70"	"1543"	"0"	"1543"	"0"	"c.1543C>T"	"r.(?)"	"p.(Arg515Trp)"	""
"0000733717"	"00010055"	"70"	"1774"	"0"	"1774"	"0"	"c.1774C>G"	"r.(?)"	"p.(Arg592Gly)"	""
"0000736837"	"00010055"	"10"	"560"	"0"	"561"	"0"	"c.560_561insGCTGCCCAT"	"r.(?)"	"p.(Ser187delinsArgLeuProIle)"	""
"0000759752"	"00010055"	"90"	"700"	"0"	"700"	"0"	"c.700dup"	"r.(?)"	"p.(Leu234ProfsTer56)"	""
"0000759770"	"00010055"	"90"	"1304"	"0"	"1304"	"0"	"c.1304G>A"	"r.(?)"	"p.(Arg435Gln)"	""
"0000759777"	"00010055"	"90"	"700"	"0"	"700"	"0"	"c.700dup"	"r.(?)"	"p.(Leu234ProfsTer56)"	""
"0000759780"	"00010055"	"90"	"1862"	"0"	"1862"	"0"	"c.1862G>A"	"r.(?)"	"p.(Arg621Gln)"	""
"0000759793"	"00010055"	"90"	"1426"	"0"	"1426"	"0"	"c.1426G>A"	"r.(?)"	"p.(Gly476Arg)"	""
"0000759802"	"00010055"	"90"	"1862"	"0"	"1862"	"0"	"c.1862G>A"	"r.(?)"	"p.(Arg621Gln)"	""
"0000760060"	"00010055"	"50"	"746"	"0"	"746"	"0"	"c.746C>T"	"r.(?)"	"p.(Ser249Phe)"	""
"0000783483"	"00010055"	"90"	"907"	"0"	"907"	"0"	"c.907G>A"	"r.(?)"	"p.(Val303Met)"	""
"0000783484"	"00010055"	"90"	"1684"	"0"	"1684"	"0"	"c.1684A>G"	"r.(?)"	"p.(Ser562Gly)"	""
"0000783485"	"00010055"	"90"	"1684"	"0"	"1684"	"0"	"c.1684A>G"	"r.(?)"	"p.(Ser562Gly)"	""
"0000783486"	"00010055"	"90"	"1064"	"0"	"1064"	"0"	"c.1064C>T"	"r.(?)"	"p.(Thr355Met)"	""
"0000783487"	"00010055"	"90"	"1760"	"0"	"1760"	"0"	"c.1760del"	"r.(?)"	"p.(Val587Glyfs*7)"	""
"0000783488"	"00010055"	"90"	"1760"	"0"	"1760"	"0"	"c.1760del"	"r.(?)"	"p.(Val587Glyfs*7)"	""
"0000783489"	"00010055"	"90"	"1754"	"0"	"1754"	"0"	"c.1754G>A"	"r.(?)"	"p.(Arg585His)"	""
"0000783490"	"00010055"	"90"	"1896"	"0"	"1897"	"0"	"c.1896_1897del"	"r.(?)"	"p.(Gln633Glufs*64)"	""
"0000783491"	"00010055"	"90"	"1154"	"0"	"1154"	"0"	"c.1154G>A"	"r.(?)"	"p.(Cys385Tyr)"	""
"0000783492"	"00010055"	"90"	"1064"	"0"	"1064"	"0"	"c.1064C>T"	"r.(?)"	"p.(Thr355Met)"	""
"0000783493"	"00010055"	"90"	"1577"	"0"	"1577"	"0"	"c.1577C>T"	"r.(?)"	"p.(Pro526Leu)"	""
"0000783702"	"00010055"	"90"	"1021"	"0"	"1021"	"0"	"c.1021G>A"	"r.(?)"	"p.(Gly341Ser)"	""
"0000783703"	"00010055"	"90"	"1021"	"0"	"1021"	"0"	"c.1021G>A"	"r.(?)"	"p.(Gly341Ser)"	""
"0000783704"	"00010055"	"90"	"1021"	"0"	"1021"	"0"	"c.1021G>A"	"r.(?)"	"p.(Gly341Ser)"	""
"0000783705"	"00010055"	"90"	"944"	"0"	"944"	"0"	"c.944C>T"	"r.(?)"	"p.(Pro315Leu)"	""
"0000783706"	"00010055"	"90"	"1162"	"0"	"1162"	"0"	"c.1162G>T"	"r.(?)"	"p.(Val388Leu)"	""
"0000783707"	"00010055"	"90"	"1162"	"0"	"1162"	"0"	"c.1162G>T"	"r.(?)"	"p.(Val388Leu)"	""
"0000783708"	"00010055"	"90"	"1249"	"0"	"1249"	"0"	"c.1249T>C"	"r.(?)"	"p.(Ser417Pro)"	""
"0000783709"	"00010055"	"90"	"1304"	"0"	"1304"	"0"	"c.1304G>A"	"r.(?)"	"p.(Arg435Gln)"	""
"0000783710"	"00010055"	"90"	"1468"	"0"	"1468"	"0"	"c.1468G>T"	"r.(?)"	"p.(Asp490Tyr)"	""
"0000783892"	"00010055"	"50"	"1668"	"0"	"1668"	"0"	"c.1668C>G"	"r.(?)"	"p.(Asp556Glu)"	""
"0000783978"	"00010055"	"50"	"848"	"0"	"848"	"0"	"c.848C>T"	"r.(?)"	"p.(Ala283Val)"	""
"0000783997"	"00010055"	"90"	"1073"	"0"	"1073"	"0"	"c.1073C>T"	"r.(?)"	"p.(Pro358Leu)"	""
"0000783998"	"00010055"	"90"	"1669"	"0"	"1669"	"0"	"c.1669C>T"	"r.(?)"	"p.(Arg557Cys)"	""
"0000785435"	"00010055"	"50"	"1762"	"0"	"1762"	"0"	"c.1762T>C"	"r.(?)"	"p.(Tyr588His)"	""
"0000791781"	"00010055"	"70"	"473"	"0"	"473"	"0"	"c.473del"	"r.(?)"	"p.(Gly158Valfs*40)"	""
"0000791782"	"00010055"	"70"	"1862"	"0"	"1862"	"0"	"c.1862G>A"	"r.(?)"	"p.(Arg621Gly)"	""
"0000791783"	"00010055"	"70"	"1565"	"0"	"1565"	"0"	"c.1565G>C"	"r.(?)"	"p.(Gly522Ala)"	""
"0000791784"	"00010055"	"70"	"1565"	"0"	"1565"	"0"	"c.1565G>C"	"r.(?)"	"p.(Gly522Ala)"	""
"0000791868"	"00010055"	"70"	"1304"	"0"	"1304"	"0"	"c.1304G>A"	"r.(?)"	"p.(Arg435Gly)"	""
"0000791869"	"00010055"	"70"	"1784"	"0"	"1787"	"0"	"c.1784_1787del"	"r.(?)"	"p.(Val595Glyfs*21)"	""
"0000796280"	"00010055"	"90"	"1861"	"0"	"1861"	"0"	"c.1861C>T"	"r.(?)"	"p.(Arg621Trp)"	"10"
"0000803982"	"00010055"	"30"	"1791"	"0"	"1791"	"0"	"c.1791G>C"	"r.(?)"	"p.(Pro597=)"	""
"0000803983"	"00010055"	"10"	"1159"	"7"	"1159"	"8"	"c.1159+7_1159+8insTGGCTAGAGGGGTGGGCG"	"r.(=)"	"p.(=)"	""
"0000803984"	"00010055"	"50"	"875"	"0"	"875"	"0"	"c.875G>A"	"r.(?)"	"p.(Arg292His)"	""
"0000803985"	"00010055"	"30"	"813"	"-5"	"813"	"-5"	"c.813-5C>G"	"r.spl?"	"p.?"	""
"0000811711"	"00010055"	"50"	"532"	"0"	"532"	"0"	"c.532G>A"	"c.532G>A"	"p.(Val178Met)"	"1"
"0000811763"	"00010055"	"70"	"1879"	"0"	"1879"	"0"	"c.1879C>T"	"r.(?)"	"p.(Gln627*)"	""
"0000811764"	"00010055"	"70"	"1879"	"0"	"1879"	"0"	"c.1879C>T"	"r.(?)"	"p.(Gln627*)"	""
"0000811765"	"00010055"	"70"	"1879"	"0"	"1879"	"0"	"c.1879C>T"	"r.(?)"	"p.(Gln627*)"	""
"0000811766"	"00010055"	"70"	"1879"	"0"	"1879"	"0"	"c.1879C>T"	"r.(?)"	"p.(Gln627*)"	""
"0000811767"	"00010055"	"70"	"1879"	"0"	"1879"	"0"	"c.1879C>T"	"r.(?)"	"p.(Gln627*)"	""
"0000811768"	"00010055"	"70"	"1879"	"0"	"1879"	"0"	"c.1879C>T"	"r.(?)"	"p.(Gln627*)"	""
"0000811769"	"00010055"	"70"	"1879"	"0"	"1879"	"0"	"c.1879C>T"	"r.(?)"	"p.(Gln627*)"	""
"0000811770"	"00010055"	"70"	"1879"	"0"	"1879"	"0"	"c.1879C>T"	"r.(?)"	"p.(Gln627*)"	""
"0000817523"	"00010055"	"70"	"1304"	"0"	"1304"	"0"	"c.1304G>A"	"r.(?)"	"p.(Arg435Gln)"	"6"
"0000818390"	"00010055"	"90"	"1565"	"0"	"1565"	"0"	"c.1565G>C"	"r.(?)"	"p.(Gly522Ala)"	"8"
"0000818391"	"00010055"	"90"	"1565"	"0"	"1565"	"0"	"c.1565G>C"	"r.(?)"	"p.(Gly522Ala)"	"8"
"0000822176"	"00010055"	"90"	"907"	"0"	"907"	"0"	"c.907G>A"	"r.(?)"	"p.(Val303Met)"	"2"
"0000822177"	"00010055"	"90"	"1753"	"0"	"1753"	"0"	"c.1753C>T"	"r.(?)"	"p.(Pro585Ser)"	"9"
"0000822178"	"00010055"	"90"	"907"	"0"	"907"	"0"	"c.907G>A"	"r.(?)"	"p.(Val303Met)"	"2"
"0000822179"	"00010055"	"90"	"1753"	"0"	"1753"	"0"	"c.1753C>T"	"r.(?)"	"p.(Pro585Ser)"	"9"
"0000822184"	"00010055"	"50"	"1379"	"0"	"1379"	"0"	"c.1379C>G"	"r.(?)"	"p.(Ser460Cys)"	"6"
"0000828478"	"00010055"	"70"	"1036"	"0"	"1036"	"0"	"c.1036C>T"	"r.(?)"	"p.(Arg346Trp)"	""
"0000831402"	"00010055"	"70"	"1303"	"0"	"1303"	"0"	"c.1303C>G"	"r.(?)"	"(p.(Arg435Gly)"	""
"0000852178"	"00010055"	"50"	"1796"	"0"	"1796"	"0"	"c.1796G>A"	"r.(?)"	"p.(Arg599Gln)"	""
"0000852179"	"00010055"	"30"	"1506"	"0"	"1506"	"0"	"c.1506G>A"	"r.(?)"	"p.(Pro502=)"	""
"0000852180"	"00010055"	"30"	"1387"	"19"	"1387"	"19"	"c.1387+19C>T"	"r.(=)"	"p.(=)"	""
"0000852181"	"00010055"	"70"	"1303"	"0"	"1303"	"0"	"c.1303C>T"	"r.(?)"	"p.(Arg435Trp)"	""
"0000852182"	"00010055"	"30"	"1159"	"7"	"1159"	"8"	"c.1159+7_1159+8insTGGCTAGAGGGGTGGGCG"	"r.(=)"	"p.(=)"	""
"0000852183"	"00010055"	"30"	"813"	"-7"	"813"	"-7"	"c.813-7G>A"	"r.(=)"	"p.(=)"	""
"0000852184"	"00010055"	"30"	"791"	"0"	"791"	"0"	"c.791G>A"	"r.(?)"	"p.(Arg264His)"	""
"0000861567"	"00010055"	"30"	"1875"	"0"	"1875"	"0"	"c.1875G>A"	"r.(?)"	"p.(Glu625=)"	""
"0000861568"	"00010055"	"30"	"1325"	"0"	"1325"	"0"	"c.1325C>T"	"r.(?)"	"p.(Thr442Ile)"	""
"0000861569"	"00010055"	"10"	"636"	"0"	"636"	"0"	"c.636C>A"	"r.(?)"	"p.(Val212=)"	""
"0000861570"	"00010055"	"30"	"304"	"0"	"304"	"0"	"c.304G>T"	"r.(?)"	"p.(Asp102Tyr)"	""
"0000874673"	"00010055"	"70"	"1304"	"0"	"1304"	"0"	"c.1304G>A"	"r.(?)"	"p.(Arg435Gln)"	""
"0000888729"	"00010055"	"30"	"1875"	"0"	"1875"	"0"	"c.1875G>A"	"r.(?)"	"p.(Glu625=)"	""
"0000888730"	"00010055"	"30"	"1549"	"18"	"1549"	"18"	"c.1549+18C>T"	"r.(=)"	"p.(=)"	""
"0000888731"	"00010055"	"50"	"1175"	"0"	"1175"	"0"	"c.1175C>G"	"r.(?)"	"p.(Thr392Arg)"	""
"0000888732"	"00010055"	"10"	"1159"	"8"	"1159"	"8"	"c.1159+8C>T"	"r.(=)"	"p.(=)"	""
"0000888733"	"00010055"	"30"	"1104"	"0"	"1104"	"0"	"c.1104C>T"	"r.(?)"	"p.(His368=)"	""
"0000888734"	"00010055"	"30"	"936"	"13"	"936"	"13"	"c.936+13G>T"	"r.(=)"	"p.(=)"	""
"0000888735"	"00010055"	"30"	"623"	"0"	"623"	"0"	"c.623C>T"	"r.(?)"	"p.(Thr208Ile)"	""
"0000888736"	"00010055"	"30"	"531"	"0"	"531"	"0"	"c.531C>A"	"r.(?)"	"p.(Ala177=)"	""
"0000913123"	"00010055"	"50"	"1670"	"0"	"1670"	"0"	"c.1670G>A"	"r.(?)"	"p.(Arg557His)"	""
"0000913124"	"00010055"	"30"	"1159"	"7"	"1159"	"8"	"c.1159+7_1159+8insTGGCTGGAGGGGTGGGCGTGGCTGGAGGGGTGGGCG"	"r.(=)"	"p.(=)"	""
"0000913125"	"00010055"	"50"	"976"	"0"	"976"	"0"	"c.976G>A"	"r.(?)"	"p.(Glu326Lys)"	""
"0000925018"	"00010055"	"30"	"1034"	"8"	"1034"	"8"	"c.1034+8G>A"	"r.(=)"	"p.(=)"	""
"0000929569"	"00010055"	"30"	"304"	"0"	"304"	"0"	"c.304G>T"	"r.(?)"	"p.(Asp102Tyr)"	""
"0000949248"	"00010055"	"30"	"1550"	"-14"	"1550"	"-14"	"c.1550-14C>T"	"r.(=)"	"p.(=)"	""
"0000978541"	"00010055"	"50"	"1535"	"0"	"1535"	"0"	"c.1535G>A"	"r.(?)"	"p.(Arg512Gln)"	""
"0000978542"	"00010055"	"30"	"1387"	"14"	"1387"	"14"	"c.1387+14C>T"	"r.(=)"	"p.(=)"	""
"0000978543"	"00010055"	"30"	"1387"	"9"	"1387"	"9"	"c.1387+9G>A"	"r.(=)"	"p.(=)"	""
"0000978544"	"00010055"	"50"	"1288"	"0"	"1288"	"0"	"c.1288G>A"	"r.(?)"	"p.(Gly430Arg)"	""
"0000978545"	"00010055"	"50"	"1052"	"0"	"1052"	"0"	"c.1052G>T"	"r.(?)"	"p.(Arg351Leu)"	""
"0000978546"	"00010055"	"50"	"653"	"0"	"653"	"0"	"c.653A>C"	"r.(?)"	"p.(Asp218Ala)"	""
"0000985266"	"00010055"	"70"	"1337"	"0"	"1337"	"0"	"c.1337T>A"	"r.(?)"	"p.(Leu446Gln)"	"6"
"0000985284"	"00010055"	"70"	"1064"	"0"	"1064"	"0"	"c.1064C>T"	"r.(?)"	"p.(Thr355Met)"	""
"0000997657"	"00010055"	"50"	"1883"	"0"	"1883"	"0"	"c.1883G>A"	"r.(?)"	"p.(Arg628Lys)"	""
"0000997658"	"00010055"	"50"	"797"	"0"	"811"	"0"	"c.797_811del"	"r.(?)"	"p.(Lys266_Ser270del)"	""
"0001008526"	"00010055"	"50"	"1094"	"0"	"1094"	"0"	"c.1094C>T"	"r.(?)"	"p.(Ser365Leu)"	""
"0001008527"	"00010055"	"70"	"1862"	"0"	"1862"	"0"	"c.1862G>A"	"r.(?)"	"p.(Arg621Gln)"	""
"0001008528"	"00010055"	"70"	"1862"	"0"	"1862"	"0"	"c.1862G>A"	"r.(?)"	"p.(Arg621Gln)"	""
"0001008529"	"00010055"	"70"	"1862"	"0"	"1862"	"0"	"c.1862G>A"	"r.(?)"	"p.(Arg621Gln)"	""
"0001008530"	"00010055"	"70"	"1670"	"0"	"1670"	"0"	"c.1670G>A"	"r.(?)"	"p.(Arg557His)"	""
"0001008531"	"00010055"	"70"	"473"	"0"	"473"	"0"	"c.473dup"	"r.(?)"	"p.(Asn159Ter)"	""
"0001008532"	"00010055"	"70"	"746"	"0"	"746"	"0"	"c.746C>T"	"r.(?)"	"p.(Ser249Phe)"	""
"0001008533"	"00010055"	"50"	"914"	"0"	"914"	"0"	"c.914C>T"	"r.(?)"	"p.(Thr305Ile)"	""
"0001008534"	"00010055"	"70"	"1402"	"0"	"1402"	"0"	"c.1402C>T"	"r.(?)"	"p.(Arg468Cys)"	""
"0001008535"	"00010055"	"70"	"1456"	"0"	"1456"	"0"	"c.1456C>T"	"r.(?)"	"p.(Arg486Cys)"	""
"0001008536"	"00010055"	"70"	"1754"	"0"	"1754"	"0"	"c.1754G>A"	"r.(?)"	"p.(Arg585His)"	""
"0001008537"	"00010055"	"50"	"1393"	"0"	"1393"	"0"	"c.1393G>A"	"r.(?)"	"p.(Val465Ile)"	""
"0001008538"	"00010055"	"50"	"1800"	"0"	"1800"	"0"	"c.1800C>G"	"r.(?)"	"p.(Asp600Glu)"	""
"0001008539"	"00010055"	"70"	"1787"	"0"	"1787"	"0"	"c.1787G>C"	"r.(?)"	"p.(Arg596Thr)"	""
"0001008540"	"00010055"	"70"	"1754"	"0"	"1754"	"0"	"c.1754G>A"	"r.(?)"	"p.(Arg585His)"	""
"0001008541"	"00010055"	"70"	"746"	"0"	"746"	"0"	"c.746C>T"	"r.(?)"	"p.(Ser249Phe)"	""
"0001008542"	"00010055"	"70"	"1787"	"0"	"1787"	"0"	"c.1787G>C"	"r.(?)"	"p.(Arg596Thr)"	""
"0001008543"	"00010055"	"70"	"1456"	"0"	"1456"	"0"	"c.1456C>T"	"r.(?)"	"p.(Arg486Cys)"	""
"0001008544"	"00010055"	"70"	"1861"	"0"	"1861"	"0"	"c.1861C>T"	"r.(?)"	"p.(Arg621Trp)"	""
"0001008545"	"00010055"	"50"	"1577"	"0"	"1577"	"0"	"c.1577C>T"	"r.(?)"	"p.(Pro526Leu)"	""
"0001008546"	"00010055"	"70"	"1760"	"0"	"1760"	"0"	"c.1760del"	"r.(?)"	"p.(Val587GlyfsTer7)"	""
"0001025639"	"00010055"	"50"	"469"	"0"	"469"	"0"	"c.469G>T"	"r.(?)"	"p.(Gly157Trp)"	""
"0001037314"	"00010055"	"50"	"1774"	"0"	"1774"	"0"	"c.1774C>G"	"r.(?)"	"p.(Arg592Gly)"	""
"0001037315"	"00010055"	"50"	"1672"	"0"	"1672"	"0"	"c.1672G>T"	"r.(?)"	"p.(Val558Phe)"	""
"0001037316"	"00010055"	"50"	"1360"	"0"	"1360"	"0"	"c.1360G>A"	"r.(?)"	"p.(Asp454Asn)"	""
"0001037317"	"00010055"	"50"	"1325"	"0"	"1325"	"0"	"c.1325C>T"	"r.(?)"	"p.(Thr442Ile)"	""
"0001053426"	"00010055"	"50"	"1615"	"0"	"1615"	"0"	"c.1615G>A"	"r.(?)"	"p.(Gly539Arg)"	""
"0001053427"	"00010055"	"50"	"982"	"0"	"982"	"0"	"c.982G>A"	"r.(?)"	"p.(Asp328Asn)"	""


## Screenings_To_Variants ## Do not remove or alter this header ##
## Count = 99
"{{screeningid}}"	"{{variantid}}"
"0000028957"	"0000052265"
"0000028958"	"0000052266"
"0000270926"	"0000620290"
"0000270926"	"0000620295"
"0000295975"	"0000652664"
"0000310345"	"0000685256"
"0000333202"	"0000730626"
"0000333202"	"0000730796"
"0000333501"	"0000731155"
"0000333501"	"0000731176"
"0000335067"	"0000733076"
"0000335067"	"0000733539"
"0000335152"	"0000733161"
"0000335152"	"0000733601"
"0000335326"	"0000733335"
"0000335326"	"0000733717"
"0000337207"	"0000736837"
"0000360076"	"0000759752"
"0000360076"	"0000759780"
"0000360094"	"0000759770"
"0000360094"	"0000759793"
"0000360101"	"0000759777"
"0000360101"	"0000759802"
"0000360208"	"0000760060"
"0000373503"	"0000783483"
"0000373503"	"0000783702"
"0000373504"	"0000783484"
"0000373504"	"0000783703"
"0000373505"	"0000783485"
"0000373505"	"0000783704"
"0000373506"	"0000783486"
"0000373506"	"0000783705"
"0000373507"	"0000783487"
"0000373507"	"0000783706"
"0000373508"	"0000783488"
"0000373508"	"0000783707"
"0000373509"	"0000783489"
"0000373509"	"0000783708"
"0000373510"	"0000783490"
"0000373510"	"0000783709"
"0000373511"	"0000783491"
"0000373512"	"0000783492"
"0000373513"	"0000783493"
"0000373513"	"0000783710"
"0000373743"	"0000783892"
"0000373743"	"0000783978"
"0000373754"	"0000783997"
"0000373754"	"0000783998"
"0000374634"	"0000785435"
"0000378875"	"0000791781"
"0000378875"	"0000791868"
"0000378876"	"0000791782"
"0000378876"	"0000791869"
"0000378877"	"0000791783"
"0000378878"	"0000791784"
"0000382455"	"0000796280"
"0000384880"	"0000811711"
"0000384926"	"0000811763"
"0000384927"	"0000811764"
"0000384928"	"0000811765"
"0000384929"	"0000811766"
"0000384930"	"0000811767"
"0000384931"	"0000811768"
"0000384932"	"0000811769"
"0000384933"	"0000811770"
"0000388765"	"0000817523"
"0000389378"	"0000818390"
"0000389379"	"0000818391"
"0000392074"	"0000822176"
"0000392074"	"0000822177"
"0000392075"	"0000822178"
"0000392075"	"0000822179"
"0000392078"	"0000822184"
"0000396800"	"0000828478"
"0000399084"	"0000831402"
"0000416545"	"0000874673"
"0000451395"	"0000985266"
"0000451395"	"0000985284"
"0000456289"	"0001008526"
"0000456289"	"0001008538"
"0000456290"	"0001008527"
"0000456291"	"0001008528"
"0000456292"	"0001008529"
"0000456293"	"0001008530"
"0000456293"	"0001008540"
"0000456294"	"0001008531"
"0000456294"	"0001008541"
"0000456294"	"0001008542"
"0000456295"	"0001008532"
"0000456295"	"0001008539"
"0000456296"	"0001008533"
"0000456296"	"0001008543"
"0000456297"	"0001008534"
"0000456297"	"0001008544"
"0000456298"	"0001008535"
"0000456298"	"0001008545"
"0000456299"	"0001008536"
"0000456299"	"0001008546"
"0000456300"	"0001008537"