### LOVD-version 3000-30b ### Full data download ### To import, do not remove or alter this header ###
## Filter: (gene_public = HEXB)
# 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}}"
"HEXB"	"hexosaminidase B (beta polypeptide)"	"5"	"q13.3"	"unknown"	"NG_009770.2"	"UD_132118480347"	""	"https://www.LOVD.nl/HEXB"	""	"1"	"4879"	"3074"	"606873"	"1"	"1"	"1"	"1"	"Establishment of the database was supported by the European Community\'s Seventh Framework Programme (FP7/2007-2013) under grant agreement No 200754 - the GEN2PHEN project."	""	"g"	"https://databases.lovd.nl/shared/refseq/HEXB_codingDNA.html"	"1"	""	""	"-1"	""	"-1"	"00002"	"2011-04-05 00:00:00"	"00006"	"2017-10-24 09:58:23"	"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}}"
"00000096"	"HEXB"	"hexosaminidase B (beta polypeptide)"	"001"	"NM_000521.3"	""	"NP_000512.1"	""	""	""	"-117"	"1784"	"1671"	"73980969"	"74017113"	"00002"	"2012-05-11 13:12:05"	""	""


## Diseases ## Do not remove or alter this header ##
## Count = 10
"{{id}}"	"{{symbol}}"	"{{name}}"	"{{inheritance}}"	"{{id_omim}}"	"{{tissues}}"	"{{features}}"	"{{remarks}}"	"{{created_by}}"	"{{created_date}}"	"{{edited_by}}"	"{{edited_date}}"
"00000"	"Healthy/Control"	"Healthy individual / control"	""	""	""	""	""	"00000"	"2012-07-26 17:29:43"	""	""
"00138"	"autism"	"autism"	""	"209850"	""	""	""	"00084"	"2013-06-04 18:17:33"	"00006"	"2015-12-08 23:54:35"
"00198"	"?"	"unclassified / mixed"	""	""	""	""	""	"00006"	"2013-09-13 14:21:47"	"00006"	"2024-11-23 09:38:12"
"00244"	"MYOP"	"myopathy (MYOP)"	""	""	""	""	""	"00006"	"2013-10-12 23:00:55"	"00006"	"2019-06-19 11:52:31"
"02062"	"Sandhoff"	"Sandhoff disease"	"AR"	"268800"	""	""	""	"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"
"04225"	"-"	"neurodegeneration"	""	""	""	""	""	"00006"	"2015-03-13 20:14:29"	""	""
"04270"	"epilepsy"	"epilepsy"	""	""	""	""	""	"00006"	"2015-05-14 16:00:06"	"00006"	"2017-09-07 14:25:59"
"05378"	"BMD/DMD"	"dystrophinopathy (BMD or DMD)"	""	""	""	""	""	"00006"	"2018-01-13 20:18:25"	"00006"	"2019-03-26 16:49:54"
"05611"	"NDD"	"neurodevelopmental disorder (NDD)"	""	""	""	""	""	"00006"	"2019-06-19 12:27:20"	"00006"	"2024-12-13 11:12:21"


## Genes_To_Diseases ## Do not remove or alter this header ##
## Count = 1
"{{geneid}}"	"{{diseaseid}}"
"HEXB"	"02062"


## Individuals ## Do not remove or alter this header ##
## Count = 55
"{{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}}"
"00000009"	""	""	""	"1"	""	"00004"	"{PMID:Bell 2011:21228398}"	""	""	""	""	""	""	""	""	""	""
"00000014"	""	""	""	"1"	""	"00004"	"{PMID:Bell 2011:21228398}"	""	""	""	""	""	"0"	""	""	""	""
"00000026"	""	""	""	"1"	""	"00004"	"{PMID:Bell 2011:21228398}"	""	""	""	""	""	"0"	""	""	""	""
"00000027"	""	""	""	"1"	""	"00004"	"{PMID:Bell 2011:21228398}"	""	""	""	""	""	"0"	""	""	""	""
"00000030"	""	""	""	"1"	""	"00004"	"{PMID:Bell 2011:21228398}"	""	""	""	""	""	"0"	""	""	""	""
"00000036"	""	""	""	"1"	""	"00004"	"{PMID:Bell 2011:21228398}"	""	""	""	""	""	"0"	""	""	""	""
"00000037"	""	""	""	"1"	""	"00004"	"{PMID:Bell 2011:21228398}"	""	""	""	""	""	"0"	""	""	""	""
"00000038"	""	""	""	"1"	""	"00004"	"{PMID:Bell 2011:21228398}"	""	""	""	""	""	"0"	""	""	""	""
"00000047"	""	""	""	"1"	""	"00004"	"{PMID:Bell 2011:21228398}"	""	""	""	""	""	"0"	""	""	""	""
"00000056"	""	""	""	"1"	""	"00004"	"{PMID:Bell 2011:21228398}"	""	""	""	""	""	""	""	""	""	""
"00000058"	""	""	""	"1"	""	"00004"	"{PMID:Bell 2011:21228398}"	""	""	""	""	""	""	""	""	""	""
"00000061"	""	""	""	"1"	""	"00004"	"{PMID:Bell 2011:21228398}"	""	""	""	""	""	""	""	""	""	""
"00000064"	""	""	""	"1"	""	"00004"	"{PMID:Bell 2011:21228398}"	""	""	""	""	""	""	""	""	""	""
"00000066"	""	""	""	"1"	""	"00004"	"{PMID:Bell 2011:21228398}"	""	""	""	""	""	"0"	""	""	""	""
"00000069"	""	""	""	"1"	""	"00004"	"{PMID:Bell 2011:21228398}"	""	""	""	""	""	""	""	""	""	""
"00000081"	""	""	""	"1"	""	"00004"	"{PMID:Bell 2011:21228398}"	""	""	""	""	""	""	""	""	""	""
"00000085"	""	""	""	"1"	""	"00004"	"{PMID:Bell 2011:21228398}"	""	""	""	""	""	""	""	""	""	""
"00000086"	""	""	""	"1"	""	"00004"	"{PMID:Bell 2011:21228398}"	""	""	""	""	""	""	""	""	""	""
"00000088"	""	""	""	"1"	""	"00004"	"{PMID:Bell 2011:21228398}"	""	""	""	""	""	""	""	""	""	""
"00000090"	""	""	""	"1"	""	"00004"	"{PMID:Bell 2011:21228398}"	""	""	""	""	""	""	""	""	""	""
"00000095"	""	""	""	"1"	""	"00004"	"{PMID:Bell 2011:21228398}"	""	""	""	""	""	""	""	""	""	""
"00000096"	""	""	""	"1"	""	"00004"	"{PMID:Bell 2011:21228398}"	""	""	""	""	""	""	""	""	""	""
"00080934"	""	""	""	"1"	""	"01758"	"{PMID:Trujillano 2017:27848944}"	"unaffected parents"	""	""	""	""	"0"	""	""	""	""
"00081015"	""	""	""	"1"	""	"01758"	"{PMID:Trujillano 2017:27848944}"	"unaffected parents"	""	""	""	""	"0"	""	""	""	""
"00132191"	""	""	""	"1"	""	"00006"	"Oller Ramirez, SAG2017, Cordoba"	""	""	""	"Argentina"	""	"0"	""	""	""	"SD-1"
"00132192"	""	""	""	"1"	""	"00006"	"Oller Ramirez, SAG2017, Cordoba"	""	""	""	"Argentina"	""	"0"	""	""	""	"SD-2"
"00132193"	""	""	""	"1"	""	"00006"	"Oller Ramirez, SAG2017, Cordoba"	""	""	""	"Argentina"	""	"0"	""	""	""	"SD-3"
"00132194"	""	""	""	"1"	""	"00006"	"Oller Ramirez, SAG2017, Cordoba"	""	""	""	"Argentina"	""	"0"	""	""	""	"SD-4"
"00132195"	""	""	""	"1"	""	"00006"	"Oller Ramirez, SAG2017, Cordoba"	""	""	""	"Argentina"	""	"0"	""	""	""	"SD-5"
"00132196"	""	""	""	"1"	""	"00006"	"Oller Ramirez, SAG2017, Cordoba"	""	""	""	"Argentina"	""	"0"	""	""	""	"SD-6"
"00132197"	""	""	""	"1"	""	"00006"	"Oller Ramirez, SAG2017, Cordoba"	""	""	""	"Argentina"	""	"0"	""	""	""	"SD-7"
"00132198"	""	""	""	"1"	""	"00006"	"Oller Ramirez, SAG2017, Cordoba"	""	""	""	"Argentina"	""	"0"	""	""	""	"SD-8"
"00132199"	""	""	""	"1"	""	"00006"	"Oller Ramirez, SAG2017, Cordoba"	""	""	""	"Argentina"	""	"0"	""	""	""	"control"
"00132200"	""	""	""	"1"	""	"00006"	"Oller Ramirez, SAG2017, Cordoba"	""	""	""	"Argentina"	""	"0"	""	""	""	"FamVeBN"
"00132201"	""	""	""	"1"	""	"00006"	"Oller Ramirez, SAG2017, Cordoba"	""	""	""	"Argentina"	""	"0"	""	""	""	"FamVeL"
"00132202"	""	""	""	"1"	""	"00006"	"Oller Ramirez, SAG2017, Cordoba"	""	""	""	"Argentina"	""	"0"	""	""	""	"FamVaA"
"00132203"	""	""	""	"1"	""	"00006"	"Oller Ramirez, SAG2017, Cordoba"	""	""	""	"Argentina"	""	"0"	""	""	""	"FamMM"
"00132204"	""	""	""	"1"	""	"00006"	"Oller Ramirez, SAG2017, Cordoba"	""	""	""	"Argentina"	""	"0"	""	""	""	"FamScG"
"00132205"	""	""	""	"1"	""	"00006"	"Oller Ramirez, SAG2017, Cordoba"	""	""	""	"Argentina"	""	"0"	""	""	""	"FamGuS"
"00293899"	""	""	""	"43"	""	"03575"	"{PMID:Narang 2020:32906206}, {DOI:Narang 2020:10.1002/humu.24102}"	"analysis 2794 individuals (India)"	""	""	"India"	""	"0"	""	""	""	""
"00293900"	""	""	""	"1"	""	"03575"	"{PMID:Narang 2020:32906206}, {DOI:Narang 2020:10.1002/humu.24102}"	"analysis 2794 individuals (India)"	""	""	"India"	""	"0"	""	""	""	""
"00293901"	""	""	""	"1"	""	"03575"	"{PMID:Narang 2020:32906206}, {DOI:Narang 2020:10.1002/humu.24102}"	"analysis 2794 individuals (India)"	""	""	"India"	""	"0"	""	""	""	""
"00293902"	""	""	""	"17"	""	"03575"	"{PMID:Narang 2020:32906206}, {DOI:Narang 2020:10.1002/humu.24102}"	"analysis 2794 individuals (India)"	""	""	"India"	""	"0"	""	""	""	""
"00305041"	""	""	""	"1"	""	"03575"	"{PMID:Narang 2020:32906206}, {DOI:Narang 2020:10.1002/humu.24102}"	"analysis 2794 individuals (India)"	""	""	"India"	""	"0"	""	""	""	""
"00362731"	""	""	""	"1"	""	"04052"	""	""	"M"	"yes"	"Iran"	""	"0"	""	""	"Iran"	""
"00414705"	""	""	""	"1"	""	"00000"	"{PMID:Bell 2011:21228398}"	""	"?"	""	""	""	"0"	""	""	""	"NA01899"
"00415264"	""	""	""	"1"	""	"00000"	"{PMID:Alfares 2018:30202406}"	""	"M"	""	""	""	"0"	""	""	""	"19"
"00430679"	""	""	""	"1"	""	"00006"	"{PMID:Granger 2022:36628841}"	""	"F"	""	"United States"	""	"0"	""	""	""	"Pat14"
"00453466"	""	""	""	"1"	""	"03544"	""	""	"F"	"-"	"- (not applicable)"	""	""	""	""	""	""
"00453476"	""	""	""	"1"	""	"00006"	"{PMID:Nakano 1989:2522450}, {PMID:Dlott 1990:2170400}"	""	""	""	""	""	"0"	""	""	""	"GM2094/AGM2144;PatJuvA"
"00453481"	""	""	""	"1"	""	"00006"	"{PMID:Dlott 1990:2170400}"	""	""	""	""	""	"0"	""	""	""	"PatJuvB"
"00453483"	""	""	""	"1"	""	"00006"	"{PMID:Dlott 1990:2170400}"	"asymptomatic"	""	""	""	""	"0"	""	""	""	"AsympB"
"00453484"	""	""	""	"1"	""	"00006"	"{PMID:Dlott 1990:2170400}"	"asymptomatic"	""	""	"France"	""	"0"	""	""	""	"AsympA"
"00456250"	""	""	""	"1"	""	"00006"	"{PMID:Fernandez-Marmiesse 2014:24767253}"	""	"M"	""	"Spain"	""	"0"	""	""	""	"Pat28"
"00467782"	""	""	""	"1"	""	"00006"	"{PMID:Charng 2016:27435318}"	"2-generation family, 1 affected, unaffected heterozygous carrier parents"	""	"yes"	"Saudi Arabia"	""	"0"	""	""	""	"Fam002PatBAB6674"


## Individuals_To_Diseases ## Do not remove or alter this header ##
## Count = 36
"{{individualid}}"	"{{diseaseid}}"
"00000014"	"00138"
"00000014"	"05378"
"00000030"	"00000"
"00000038"	"04270"
"00080934"	"02062"
"00081015"	"02062"
"00132191"	"02062"
"00132192"	"02062"
"00132193"	"02062"
"00132194"	"02062"
"00132195"	"02062"
"00132196"	"02062"
"00132197"	"02062"
"00132198"	"02062"
"00132200"	"02062"
"00132201"	"02062"
"00132202"	"02062"
"00132203"	"02062"
"00132204"	"02062"
"00132205"	"02062"
"00293899"	"00198"
"00293900"	"00198"
"00293901"	"00198"
"00293902"	"00198"
"00305041"	"00198"
"00362731"	"02062"
"00414705"	"04214"
"00415264"	"04214"
"00430679"	"00244"
"00453466"	"04225"
"00453476"	"02062"
"00453481"	"02062"
"00453483"	"00000"
"00453484"	"00000"
"00456250"	"00198"
"00467782"	"05611"


## Phenotypes ## Do not remove or alter this header ##
## Note: Only showing Phenotype columns active for Diseases 00000, 00138, 00198, 00244, 02062, 04214, 04225, 04270, 05378, 05611
## Count = 24
"{{id}}"	"{{diseaseid}}"	"{{individualid}}"	"{{owned_by}}"	"{{Phenotype/Inheritance}}"	"{{Phenotype/Age}}"	"{{Phenotype/Additional}}"	"{{Phenotype/Age/Onset}}"	"{{Phenotype/Age/Diagnosis}}"	"{{Phenotype/Onset}}"	"{{Phenotype/Protein}}"	"{{Phenotype/Tumor/MSI}}"	"{{Phenotype/Enzyme/CPK}}"	"{{Phenotype/Heart/Myocardium}}"	"{{Phenotype/Lung}}"	"{{Phenotype/Diagnosis/Definite}}"	"{{Phenotype/Diagnosis/Initial}}"	"{{Phenotype/Diagnosis/Criteria}}"
"0000060503"	"02062"	"00080934"	"01758"	"Familial, autosomal recessive"	""	"Sandhoff disease, infantile, juvenile, and adult forms (OMIM:268800)"	""	""	""	""	""	""	""	""	""	""	""
"0000060584"	"02062"	"00081015"	"01758"	"Familial, autosomal recessive"	""	"Sandhoff disease, infantile, juvenile, and adult forms (OMIM:268800)"	""	""	""	""	""	""	""	""	""	""	""
"0000104385"	"02062"	"00132191"	"00006"	"Familial, autosomal recessive"	""	"infantile"	""	""	""	""	""	""	""	""	""	""	""
"0000104386"	"02062"	"00132192"	"00006"	"Familial, autosomal recessive"	""	"infantile"	""	""	""	""	""	""	""	""	""	""	""
"0000104387"	"02062"	"00132193"	"00006"	"Familial, autosomal recessive"	""	"infantile"	""	""	""	""	""	""	""	""	""	""	""
"0000104388"	"02062"	"00132194"	"00006"	"Familial, autosomal recessive"	""	"infantile"	""	""	""	""	""	""	""	""	""	""	""
"0000104389"	"02062"	"00132195"	"00006"	"Familial, autosomal recessive"	""	"infantile"	""	""	""	""	""	""	""	""	""	""	""
"0000104390"	"02062"	"00132196"	"00006"	"Familial, autosomal recessive"	""	"infantile"	""	""	""	""	""	""	""	""	""	""	""
"0000104391"	"02062"	"00132197"	"00006"	"Familial, autosomal recessive"	""	"juvenile"	""	""	""	""	""	""	""	""	""	""	""
"0000104392"	"02062"	"00132198"	"00006"	"Familial, autosomal recessive"	""	"infantile"	""	""	""	""	""	""	""	""	""	""	""
"0000104393"	"02062"	"00132200"	"00006"	"Familial, autosomal recessive"	""	""	""	""	""	""	""	""	""	""	""	""	""
"0000104394"	"02062"	"00132201"	"00006"	"Familial, autosomal recessive"	""	""	""	""	""	""	""	""	""	""	""	""	""
"0000104395"	"02062"	"00132202"	"00006"	"Familial, autosomal recessive"	""	""	""	""	""	""	""	""	""	""	""	""	""
"0000104396"	"02062"	"00132203"	"00006"	"Familial, autosomal recessive"	""	""	""	""	""	""	""	""	""	""	""	""	""
"0000104397"	"02062"	"00132204"	"00006"	"Familial, autosomal recessive"	""	""	""	""	""	""	""	""	""	""	""	""	""
"0000104398"	"02062"	"00132205"	"00006"	"Familial, autosomal recessive"	""	""	""	""	""	""	""	""	""	""	""	""	""
"0000258101"	"02062"	"00362731"	"04052"	"Familial, autosomal recessive"	""	"HP:0010729 Cherry red spot of the macula\r\nHP:0001324 Muscle weakness\r\nHP:0001250 Seizure\r\nHP:0002333 Motor deterioration"	""	""	"Sandhoff Disease ORPHA:796"	""	""	""	""	""	"SANDHOFF"	""	""
"0000306500"	"04214"	"00414705"	"00000"	"Familial, X-linked"	""	""	""	""	""	""	""	""	""	""	"Lesch-Nyhan syndrome"	""	""
"0000307062"	"04214"	"00415264"	"00000"	"Familial, autosomal recessive"	""	"OMIM: 268800; neurodegenerative disease, seizure disorder"	""	""	""	""	""	""	""	""	"Sandhoff disease"	""	""
"0000321454"	"00244"	"00430679"	"00006"	"Unknown"	"60y"	"proximal weakness; raised CK level 220 IU/L; electrodiagnosis chronic, diffuse neurogenic changes; muscle biopsy features of reinnervation and denervation atrophy"	""	""	""	""	""	""	""	""	"Sandhoff"	"myotonic dystrophy"	""
"0000342130"	"04225"	"00453466"	"03544"	"Isolated (sporadic)"	""	"HP:0000545, HP:0000483, HP:0002650, HP:0003698, HP:0001263, HP:0001260, HP:0001251, HP:0001337, HP:0001272, HP:0100585"	""	""	""	""	""	""	""	""	"SANDHOFF"	"neurodegeneration"	""
"0000342143"	"02062"	"00453481"	"00006"	"Unknown"	""	"juvenile Sandhoff disease"	""	""	""	""	""	""	""	""	"Sandhoff disease"	"Sandhoff disease"	""
"0000344769"	"00198"	"00456250"	"00006"	"Unknown"	""	"see paper; ..."	""	""	""	""	""	""	""	""	""	"lysosomal storage disorder"	""
"0000352935"	"05611"	"00467782"	"00006"	"Familial, autosomal recessive"	""	""	""	""	""	""	""	""	""	""	"Sandhoff"	"neurodevelopmental disorder"	""


## Screenings ## Do not remove or alter this header ##
## Count = 55
"{{id}}"	"{{individualid}}"	"{{variants_found}}"	"{{owned_by}}"	"{{created_by}}"	"{{created_date}}"	"{{edited_by}}"	"{{edited_date}}"	"{{Screening/Technique}}"	"{{Screening/Template}}"	"{{Screening/Tissue}}"	"{{Screening/Remarks}}"
"0000000009"	"00000009"	"1"	"00004"	""	"2012-05-11 13:18:37"	"00006"	"2019-02-14 10:06:48"	"SEQ-NG"	"DNA"	""	""
"0000000014"	"00000014"	"1"	"00004"	""	"2012-05-11 13:18:39"	"00006"	"2019-02-14 10:06:48"	"SEQ-NG"	"DNA"	""	""
"0000000026"	"00000026"	"1"	"00004"	""	"2012-05-11 13:18:42"	"00006"	"2019-02-14 10:06:48"	"SEQ-NG"	"DNA"	""	""
"0000000027"	"00000027"	"1"	"00004"	""	"2012-05-11 13:18:42"	"00006"	"2019-02-14 10:06:48"	"SEQ-NG"	"DNA"	""	""
"0000000030"	"00000030"	"1"	"00004"	""	"2012-05-11 13:18:43"	"00006"	"2019-02-14 10:06:48"	"SEQ-NG"	"DNA"	""	""
"0000000036"	"00000036"	"1"	"00004"	""	"2012-05-11 13:18:44"	"00006"	"2019-02-14 10:06:48"	"SEQ-NG"	"DNA"	""	""
"0000000037"	"00000037"	"1"	"00004"	""	"2012-05-11 13:18:44"	"00006"	"2019-02-14 10:06:48"	"SEQ-NG"	"DNA"	""	""
"0000000038"	"00000038"	"1"	"00004"	""	"2012-05-11 13:18:45"	"00006"	"2019-02-14 10:06:48"	"SEQ-NG"	"DNA"	""	""
"0000000047"	"00000047"	"1"	"00004"	""	"2012-05-11 13:18:48"	"00006"	"2019-02-14 10:06:48"	"SEQ-NG"	"DNA"	""	""
"0000000056"	"00000056"	"1"	"00004"	""	"2012-05-11 13:18:52"	"00006"	"2019-02-14 10:06:48"	"SEQ-NG"	"DNA"	""	""
"0000000058"	"00000058"	"1"	"00004"	""	"2012-05-11 13:18:53"	"00006"	"2019-02-14 10:06:48"	"SEQ-NG"	"DNA"	""	""
"0000000061"	"00000061"	"1"	"00004"	""	"2012-05-11 13:18:54"	"00006"	"2019-02-14 10:06:48"	"SEQ-NG"	"DNA"	""	""
"0000000064"	"00000064"	"1"	"00004"	""	"2012-05-11 13:18:55"	"00006"	"2019-02-14 10:06:48"	"SEQ-NG"	"DNA"	""	""
"0000000066"	"00000066"	"1"	"00004"	""	"2012-05-11 13:18:57"	"00006"	"2019-02-14 10:06:48"	"SEQ-NG"	"DNA"	""	""
"0000000069"	"00000069"	"1"	"00004"	""	"2012-05-11 13:18:57"	"00006"	"2019-02-14 10:06:48"	"SEQ-NG"	"DNA"	""	""
"0000000081"	"00000081"	"1"	"00004"	""	"2012-05-11 13:19:05"	"00006"	"2019-02-14 10:06:48"	"SEQ-NG"	"DNA"	""	""
"0000000085"	"00000085"	"1"	"00004"	""	"2012-05-11 13:19:11"	"00006"	"2019-02-14 10:06:48"	"SEQ-NG"	"DNA"	""	""
"0000000086"	"00000086"	"1"	"00004"	""	"2012-05-11 13:19:14"	"00006"	"2019-02-14 10:06:48"	"SEQ-NG"	"DNA"	""	""
"0000000088"	"00000088"	"1"	"00004"	""	"2012-05-11 13:19:14"	"00006"	"2019-02-14 10:06:48"	"SEQ-NG"	"DNA"	""	""
"0000000090"	"00000090"	"1"	"00004"	""	"2012-05-11 13:19:16"	"00006"	"2019-02-14 10:06:48"	"SEQ-NG"	"DNA"	""	""
"0000000095"	"00000095"	"1"	"00004"	""	"2012-05-11 13:19:24"	"00006"	"2019-02-14 10:06:48"	"SEQ-NG"	"DNA"	""	""
"0000000096"	"00000096"	"1"	"00004"	""	"2012-05-11 13:19:25"	"00006"	"2019-02-14 10:06:48"	"SEQ-NG"	"DNA"	""	""
"0000081046"	"00080934"	"1"	"01758"	"00006"	"2016-09-07 13:24:08"	""	""	"SEQ;SEQ-NG"	"DNA"	""	""
"0000081127"	"00081015"	"1"	"01758"	"00006"	"2016-09-07 13:24:08"	""	""	"SEQ;SEQ-NG"	"DNA"	""	""
"0000133028"	"00132191"	"1"	"00006"	"00006"	"2017-10-24 10:29:06"	""	""	"SEQ"	"DNA"	""	""
"0000133029"	"00132192"	"1"	"00006"	"00006"	"2017-10-24 10:29:06"	""	""	"SEQ"	"DNA"	""	""
"0000133030"	"00132193"	"1"	"00006"	"00006"	"2017-10-24 10:29:06"	""	""	"SEQ"	"DNA"	""	""
"0000133031"	"00132194"	"1"	"00006"	"00006"	"2017-10-24 10:29:06"	""	""	"SEQ"	"DNA"	""	""
"0000133032"	"00132195"	"1"	"00006"	"00006"	"2017-10-24 10:29:06"	""	""	"SEQ"	"DNA"	""	""
"0000133033"	"00132196"	"1"	"00006"	"00006"	"2017-10-24 10:29:06"	""	""	"SEQ"	"DNA"	""	""
"0000133034"	"00132197"	"1"	"00006"	"00006"	"2017-10-24 10:29:06"	""	""	"SEQ"	"DNA"	""	""
"0000133035"	"00132198"	"1"	"00006"	"00006"	"2017-10-24 10:29:06"	""	""	"SEQ"	"DNA"	""	""
"0000133036"	"00132199"	"1"	"00006"	"00006"	"2017-10-24 10:29:06"	""	""	"SEQ"	"DNA"	""	""
"0000133037"	"00132200"	"1"	"00006"	"00006"	"2017-10-24 10:29:06"	""	""	"SEQ"	"DNA"	""	""
"0000133038"	"00132201"	"1"	"00006"	"00006"	"2017-10-24 10:29:06"	""	""	"SEQ"	"DNA"	""	""
"0000133039"	"00132202"	"1"	"00006"	"00006"	"2017-10-24 10:29:06"	""	""	"SEQ"	"DNA"	""	""
"0000133040"	"00132203"	"1"	"00006"	"00006"	"2017-10-24 10:29:06"	""	""	"SEQ"	"DNA"	""	""
"0000133041"	"00132204"	"1"	"00006"	"00006"	"2017-10-24 10:29:06"	""	""	"SEQ"	"DNA"	""	""
"0000133042"	"00132205"	"1"	"00006"	"00006"	"2017-10-24 10:29:06"	""	""	"SEQ"	"DNA"	""	""
"0000295067"	"00293899"	"1"	"03575"	"00006"	"2020-03-11 19:30:02"	""	""	"arraySNP"	"DNA"	""	"Infinium Global Screening Array v1.0"
"0000295068"	"00293900"	"1"	"03575"	"00006"	"2020-03-11 19:30:02"	""	""	"arraySNP"	"DNA"	""	"Infinium Global Screening Array v1.0"
"0000295069"	"00293901"	"1"	"03575"	"00006"	"2020-03-11 19:30:02"	""	""	"arraySNP"	"DNA"	""	"Infinium Global Screening Array v1.0"
"0000295070"	"00293902"	"1"	"03575"	"00006"	"2020-03-11 19:30:02"	""	""	"arraySNP"	"DNA"	""	"Infinium Global Screening Array v1.0"
"0000306170"	"00305041"	"1"	"03575"	"00006"	"2020-06-24 11:55:42"	""	""	"arraySNP"	"DNA"	""	"Infinium Global Screening Array v1.0"
"0000363959"	"00362731"	"1"	"04052"	"04052"	"2021-04-23 09:50:32"	""	""	"SEQ"	"DNA"	""	""
"0000415986"	"00414705"	"1"	"00000"	"03840"	"2022-08-02 11:28:48"	""	""	"SEQ-NG"	"DNA;RNA"	"blood"	""
"0000416546"	"00415264"	"1"	"00000"	"03840"	"2022-08-10 20:39:58"	""	""	"SEQ-NG"	"DNA"	""	"exome sequencing done at a commercial CAPaccredited laboratory"
"0000432089"	"00430679"	"1"	"00006"	"00006"	"2023-01-22 15:18:59"	""	""	"SEQ;SEQ-NG"	"DNA"	""	""
"0000455080"	"00453466"	"1"	"03544"	"03544"	"2024-09-04 09:55:18"	""	""	"SEQ-NG-I"	"DNA"	"peripheral blood"	"CES"
"0000455090"	"00453476"	"1"	"00006"	"00006"	"2024-09-05 11:29:19"	""	""	"RT-PCR;SEQ"	"DNA;RNA"	""	""
"0000455095"	"00453481"	"1"	"00006"	"00006"	"2024-09-05 12:22:58"	""	""	"RT-PCR;SEQ"	"DNA;RNA"	""	""
"0000455097"	"00453483"	"1"	"00006"	"00006"	"2024-09-05 18:33:36"	""	""	"RT-PCR;SEQ"	"DNA;RNA"	""	""
"0000455098"	"00453484"	"1"	"00006"	"00006"	"2024-09-05 18:38:30"	""	""	"RT-PCR;SEQ"	"DNA;RNA"	""	""
"0000457867"	"00456250"	"1"	"00006"	"00006"	"2024-10-24 08:52:57"	""	""	"SEQ;SEQ-NG"	"DNA"	""	"gene panel"
"0000469448"	"00467782"	"1"	"00006"	"00006"	"2025-10-30 10:25:01"	""	""	"SEQ;SEQ-NG"	"DNA"	""	"WES"


## Screenings_To_Genes ## Do not remove or alter this header ##
## Count = 299
"{{screeningid}}"	"{{geneid}}"
"0000000009"	"ACADM"
"0000000009"	"ARSB"
"0000000009"	"ATP7B"
"0000000009"	"CFTR"
"0000000009"	"CLN3"
"0000000009"	"ETFB"
"0000000009"	"GAN"
"0000000009"	"GLB1"
"0000000009"	"HEXB"
"0000000009"	"IGHMBP2"
"0000000009"	"MEFV"
"0000000009"	"NHLRC1"
"0000000009"	"NPHS1"
"0000000009"	"NTRK1"
"0000000009"	"PMP22"
"0000000009"	"SERPINA1"
"0000000009"	"WNT10A"
"0000000014"	"ALG6"
"0000000014"	"ATP7B"
"0000000014"	"CFTR"
"0000000014"	"DPYD"
"0000000014"	"ETFB"
"0000000014"	"GLB1"
"0000000014"	"GNPTAB"
"0000000014"	"HEXB"
"0000000014"	"IGHMBP2"
"0000000014"	"MYO5A"
"0000000014"	"NHLRC1"
"0000000014"	"NPHP4"
"0000000014"	"NPHS1"
"0000000014"	"PKHD1"
"0000000014"	"SERPINA1"
"0000000014"	"SFTPB"
"0000000014"	"SGSH"
"0000000014"	"TSFM"
"0000000026"	"AMPD1"
"0000000026"	"ATP7B"
"0000000026"	"CBS"
"0000000026"	"CPT1A"
"0000000026"	"ETFB"
"0000000026"	"GLB1"
"0000000026"	"GRHPR"
"0000000026"	"HEXB"
"0000000026"	"INVS"
"0000000026"	"MECP2"
"0000000026"	"MEFV"
"0000000026"	"NHLRC1"
"0000000026"	"NPHS1"
"0000000026"	"NTRK1"
"0000000026"	"SERPINA1"
"0000000026"	"SLC26A2"
"0000000027"	"AMPD1"
"0000000027"	"ARSB"
"0000000027"	"ATP7B"
"0000000027"	"CBS"
"0000000027"	"CFTR"
"0000000027"	"DPYD"
"0000000027"	"ETFB"
"0000000027"	"HEXB"
"0000000027"	"MYO5A"
"0000000027"	"NHLRC1"
"0000000027"	"NPC1"
"0000000027"	"NPHS1"
"0000000027"	"SLC26A2"
"0000000030"	"ADA"
"0000000030"	"ATP7B"
"0000000030"	"CPT2"
"0000000030"	"GALC"
"0000000030"	"HEXB"
"0000000030"	"IGHMBP2"
"0000000030"	"NHLRC1"
"0000000030"	"SBDS"
"0000000030"	"SERPINA1"
"0000000030"	"SLC26A2"
"0000000030"	"SMPD1"
"0000000030"	"TTPA"
"0000000030"	"WNT10A"
"0000000036"	"AHI1"
"0000000036"	"ATP7B"
"0000000036"	"CYP21A2"
"0000000036"	"DPYD"
"0000000036"	"ETFB"
"0000000036"	"GLB1"
"0000000036"	"HEXB"
"0000000036"	"LAMA2"
"0000000036"	"SMPD1"
"0000000037"	"ATM"
"0000000037"	"ATP7B"
"0000000037"	"DPYD"
"0000000037"	"ETFB"
"0000000037"	"HEXB"
"0000000037"	"NHLRC1"
"0000000037"	"NPHS1"
"0000000037"	"SBDS"
"0000000037"	"SLC26A2"
"0000000037"	"SLC3A1"
"0000000037"	"SMN1"
"0000000037"	"SMPD1"
"0000000038"	"ALS2"
"0000000038"	"ATP7B"
"0000000038"	"CFTR"
"0000000038"	"DPYD"
"0000000038"	"GLB1"
"0000000038"	"HEXB"
"0000000038"	"MTHFR"
"0000000038"	"MYO5A"
"0000000038"	"NHLRC1"
"0000000038"	"SMPD1"
"0000000047"	"ATP7B"
"0000000047"	"BCKDHA"
"0000000047"	"DPYD"
"0000000047"	"ETFB"
"0000000047"	"HEXB"
"0000000047"	"IGHMBP2"
"0000000047"	"KMT2A"
"0000000047"	"MEFV"
"0000000047"	"MPL"
"0000000047"	"MYO5A"
"0000000047"	"NHLRC1"
"0000000047"	"NPC1"
"0000000047"	"NPHS1"
"0000000047"	"SERPINA1"
"0000000056"	"ACADL"
"0000000056"	"ADA"
"0000000056"	"ASPA"
"0000000056"	"ATP7B"
"0000000056"	"BTD"
"0000000056"	"CYP27A1"
"0000000056"	"DPYD"
"0000000056"	"ETFB"
"0000000056"	"GLB1"
"0000000056"	"HEXB"
"0000000056"	"IGHMBP2"
"0000000056"	"NPHS1"
"0000000056"	"SERPINA1"
"0000000056"	"SLC26A2"
"0000000058"	"ALDH5A1"
"0000000058"	"ATP7B"
"0000000058"	"CFTR"
"0000000058"	"CYP21A2"
"0000000058"	"GBA"
"0000000058"	"HEXB"
"0000000058"	"IGHMBP2"
"0000000058"	"MEFV"
"0000000058"	"MYO5A"
"0000000058"	"NHLRC1"
"0000000058"	"NPHS1"
"0000000058"	"PKHD1"
"0000000058"	"PMM2"
"0000000058"	"SERPINA1"
"0000000058"	"SLC26A2"
"0000000058"	"SMPD1"
"0000000061"	"ADA"
"0000000061"	"ATP7B"
"0000000061"	"BTD"
"0000000061"	"ETFB"
"0000000061"	"GLB1"
"0000000061"	"HEXB"
"0000000061"	"HSPG2"
"0000000061"	"MTHFR"
"0000000061"	"POMGNT1"
"0000000061"	"SERPINA1"
"0000000061"	"SMPD1"
"0000000064"	"ATP7B"
"0000000064"	"CYP21A2"
"0000000064"	"ETFB"
"0000000064"	"FKTN"
"0000000064"	"GLB1"
"0000000064"	"HEXB"
"0000000064"	"IGHMBP2"
"0000000064"	"LYST"
"0000000064"	"NHLRC1"
"0000000064"	"PMM2"
"0000000064"	"SBDS"
"0000000064"	"SMPD1"
"0000000066"	"AHI1"
"0000000066"	"ATP7B"
"0000000066"	"HBB"
"0000000066"	"HEXB"
"0000000066"	"IDUA"
"0000000066"	"MPL"
"0000000066"	"NHLRC1"
"0000000066"	"NPHS1"
"0000000066"	"PKHD1"
"0000000066"	"PMM2"
"0000000066"	"SERPINA1"
"0000000066"	"TTN"
"0000000069"	"AHI1"
"0000000069"	"ARSB"
"0000000069"	"ATP7B"
"0000000069"	"CYP27A1"
"0000000069"	"ETFB"
"0000000069"	"GLB1"
"0000000069"	"HEXA"
"0000000069"	"HEXB"
"0000000069"	"LAMA2"
"0000000069"	"MTHFR"
"0000000069"	"MYO5A"
"0000000069"	"NHLRC1"
"0000000069"	"NPHS1"
"0000000069"	"PMM2"
"0000000069"	"SBDS"
"0000000081"	"ADAMTS13"
"0000000081"	"ATP7B"
"0000000081"	"CDH23"
"0000000081"	"ETFB"
"0000000081"	"FKTN"
"0000000081"	"GLB1"
"0000000081"	"HEXB"
"0000000081"	"NPHS1"
"0000000081"	"SERPINA1"
"0000000081"	"SMPD1"
"0000000085"	"ADA"
"0000000085"	"ATP7B"
"0000000085"	"ETFB"
"0000000085"	"FGG"
"0000000085"	"FKTN"
"0000000085"	"HEXB"
"0000000085"	"IGHMBP2"
"0000000085"	"MYO5A"
"0000000085"	"NHLRC1"
"0000000085"	"PKHD1"
"0000000085"	"POLG"
"0000000085"	"SERPINA1"
"0000000085"	"SGSH"
"0000000086"	"ARSB"
"0000000086"	"ATP7B"
"0000000086"	"BTD"
"0000000086"	"ETFB"
"0000000086"	"GLB1"
"0000000086"	"HEXB"
"0000000086"	"HPRT1"
"0000000086"	"IGHMBP2"
"0000000086"	"NHLRC1"
"0000000086"	"POLG"
"0000000086"	"SERPINA1"
"0000000086"	"SLC26A2"
"0000000088"	"ATP7B"
"0000000088"	"CFTR"
"0000000088"	"ETFB"
"0000000088"	"FKRP"
"0000000088"	"GALC"
"0000000088"	"GLB1"
"0000000088"	"HEXB"
"0000000088"	"IGHMBP2"
"0000000088"	"NHLRC1"
"0000000088"	"NPHS1"
"0000000088"	"POLG"
"0000000088"	"SBDS"
"0000000088"	"SERPINA1"
"0000000090"	"CYP21A2"
"0000000090"	"ERCC4"
"0000000090"	"GLB1"
"0000000090"	"HEXB"
"0000000090"	"IGHMBP2"
"0000000090"	"LAMA2"
"0000000090"	"NHLRC1"
"0000000090"	"NPHS1"
"0000000095"	"ATP7B"
"0000000095"	"CFTR"
"0000000095"	"GLB1"
"0000000095"	"HEXB"
"0000000095"	"NHLRC1"
"0000000095"	"NPHS1"
"0000000095"	"SMPD1"
"0000000096"	"AHI1"
"0000000096"	"ATP7B"
"0000000096"	"BTD"
"0000000096"	"COQ2"
"0000000096"	"ETFB"
"0000000096"	"GLB1"
"0000000096"	"HEXB"
"0000000096"	"NHLRC1"
"0000000096"	"SERPINA1"
"0000000096"	"USH1C"
"0000081046"	"HEXB"
"0000081127"	"HEXB"
"0000133028"	"HEXB"
"0000133029"	"HEXB"
"0000133030"	"HEXB"
"0000133031"	"HEXB"
"0000133032"	"HEXB"
"0000133033"	"HEXB"
"0000133034"	"HEXB"
"0000133035"	"HEXB"
"0000133036"	"HEXB"
"0000133037"	"HEXB"
"0000133038"	"HEXB"
"0000133039"	"HEXB"
"0000133040"	"HEXB"
"0000133041"	"HEXB"
"0000133042"	"HEXB"
"0000363959"	"HEXB"
"0000415986"	"HPRT1"
"0000416546"	"HEXB"
"0000455090"	"HEXB"
"0000455095"	"HEXB"
"0000455097"	"HEXB"
"0000455098"	"HEXB"


## 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 = 123
"{{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}}"
"0000001023"	"0"	"50"	"5"	"73992881"	"73992881"	"subst"	"0.159289"	"00002"	"HEXB_000001"	"g.73992881A>G"	""	""	""	""	""	"Germline"	""	""	""	""	""	"g.74697056A>G"	""	"VUS"	""
"0000001024"	"0"	"50"	"5"	"73992881"	"73992881"	"subst"	"0.159289"	"00002"	"HEXB_000001"	"g.73992881A>G"	""	""	""	""	""	"Germline"	""	""	""	""	""	"g.74697056A>G"	""	"VUS"	""
"0000001025"	"0"	"50"	"5"	"73992881"	"73992881"	"subst"	"0.159289"	"00002"	"HEXB_000001"	"g.73992881A>G"	""	""	""	""	""	"Germline"	""	""	""	""	""	"g.74697056A>G"	""	"VUS"	""
"0000001027"	"0"	"50"	"5"	"73992881"	"73992881"	"subst"	"0.159289"	"00002"	"HEXB_000001"	"g.73992881A>G"	""	""	""	""	""	"Germline"	""	""	""	""	""	"g.74697056A>G"	""	"VUS"	""
"0000001028"	"0"	"50"	"5"	"73992881"	"73992881"	"subst"	"0.159289"	"00002"	"HEXB_000001"	"g.73992881A>G"	""	""	""	""	""	"Germline"	""	""	""	""	""	"g.74697056A>G"	""	"VUS"	""
"0000001029"	"0"	"50"	"5"	"73992881"	"73992881"	"subst"	"0.159289"	"00002"	"HEXB_000001"	"g.73992881A>G"	""	""	""	""	""	"Germline"	""	""	""	""	""	"g.74697056A>G"	""	"VUS"	""
"0000001030"	"0"	"50"	"5"	"73992881"	"73992881"	"subst"	"0.159289"	"00002"	"HEXB_000001"	"g.73992881A>G"	""	""	""	""	""	"Germline"	""	""	""	""	""	"g.74697056A>G"	""	"VUS"	""
"0000001031"	"0"	"50"	"5"	"73992881"	"73992881"	"subst"	"0.159289"	"00002"	"HEXB_000001"	"g.73992881A>G"	""	""	""	""	""	"Germline"	""	""	""	""	""	"g.74697056A>G"	""	"VUS"	""
"0000001032"	"0"	"50"	"5"	"73992881"	"73992881"	"subst"	"0.159289"	"00002"	"HEXB_000001"	"g.73992881A>G"	""	""	""	""	""	"Germline"	""	""	""	""	""	"g.74697056A>G"	""	"VUS"	""
"0000001033"	"0"	"50"	"5"	"73992881"	"73992881"	"subst"	"0.159289"	"00002"	"HEXB_000001"	"g.73992881A>G"	""	""	""	""	""	"Germline"	""	""	""	""	""	"g.74697056A>G"	""	"VUS"	""
"0000001034"	"0"	"50"	"5"	"73992881"	"73992881"	"subst"	"0.159289"	"00002"	"HEXB_000001"	"g.73992881A>G"	""	""	""	""	""	"Germline"	""	""	""	""	""	"g.74697056A>G"	""	"VUS"	""
"0000001035"	"0"	"50"	"5"	"73992881"	"73992881"	"subst"	"0.159289"	"00002"	"HEXB_000001"	"g.73992881A>G"	""	""	""	""	""	"Germline"	""	""	""	""	""	"g.74697056A>G"	""	"VUS"	""
"0000001036"	"0"	"50"	"5"	"73992881"	"73992881"	"subst"	"0.159289"	"00002"	"HEXB_000001"	"g.73992881A>G"	""	""	""	""	""	"Germline"	""	""	""	""	""	"g.74697056A>G"	""	"VUS"	""
"0000001037"	"0"	"50"	"5"	"73992881"	"73992881"	"subst"	"0.159289"	"00002"	"HEXB_000001"	"g.73992881A>G"	""	""	""	""	""	"Germline"	""	""	""	""	""	"g.74697056A>G"	""	"VUS"	""
"0000001038"	"0"	"50"	"5"	"73992881"	"73992881"	"subst"	"0.159289"	"00002"	"HEXB_000001"	"g.73992881A>G"	""	""	""	""	""	"Germline"	""	""	""	""	""	"g.74697056A>G"	""	"VUS"	""
"0000001039"	"0"	"50"	"5"	"73992881"	"73992881"	"subst"	"0.159289"	"00002"	"HEXB_000001"	"g.73992881A>G"	""	""	""	""	""	"Germline"	""	""	""	""	""	"g.74697056A>G"	""	"VUS"	""
"0000001040"	"0"	"50"	"5"	"73992881"	"73992881"	"subst"	"0.159289"	"00002"	"HEXB_000001"	"g.73992881A>G"	""	""	""	""	""	"Germline"	""	""	""	""	""	"g.74697056A>G"	""	"VUS"	""
"0000001041"	"0"	"50"	"5"	"73992881"	"73992881"	"subst"	"0.159289"	"00002"	"HEXB_000001"	"g.73992881A>G"	""	""	""	""	""	"Germline"	""	""	""	""	""	"g.74697056A>G"	""	"VUS"	""
"0000001042"	"0"	"50"	"5"	"73992881"	"73992881"	"subst"	"0.159289"	"00002"	"HEXB_000001"	"g.73992881A>G"	""	""	""	""	""	"Germline"	""	""	""	""	""	"g.74697056A>G"	""	"VUS"	""
"0000001043"	"0"	"50"	"5"	"73992881"	"73992881"	"subst"	"0.159289"	"00002"	"HEXB_000001"	"g.73992881A>G"	""	""	""	""	""	"Germline"	""	""	""	""	""	"g.74697056A>G"	""	"VUS"	""
"0000001044"	"3"	"50"	"5"	"73992881"	"73992881"	"subst"	"0.159289"	"00002"	"HEXB_000001"	"g.73992881A>G"	""	""	""	""	""	"Germline"	""	""	""	""	""	"g.74697056A>G"	""	"VUS"	""
"0000001045"	"0"	"50"	"5"	"73992881"	"73992881"	"subst"	"0.159289"	"00002"	"HEXB_000001"	"g.73992881A>G"	""	""	""	""	""	"Germline"	""	""	""	""	""	"g.74697056A>G"	""	"VUS"	""
"0000001046"	"0"	"50"	"5"	"74009384"	"74009384"	"del"	"0"	"00002"	"HEXB_000002"	"g.74009384del"	""	""	""	""	""	"Germline"	""	""	""	""	""	"g.74713559del"	""	"VUS"	""
"0000130132"	"3"	"90"	"5"	"74012501"	"74012508"	"del"	"0"	"01758"	"HEXB_000004"	"g.74012501_74012508del"	""	"{PMID:Trujillano 2017:27848944}"	""	""	""	"Germline"	""	""	"0"	""	""	"g.74716676_74716683del"	""	"pathogenic"	"ACMG"
"0000130213"	"3"	"90"	"5"	"74011520"	"74011520"	"subst"	"0"	"01758"	"HEXB_000003"	"g.74011520G>A"	""	"{PMID:Trujillano 2017:27848944}"	""	""	""	"Germline"	""	""	"0"	""	""	"g.74715695G>A"	""	"pathogenic"	"ACMG"
"0000222217"	"3"	"90"	"5"	"73985299"	"73985299"	"subst"	"0"	"00006"	"HEXB_000011"	"g.73985299G>A"	"118/132 case chromosomes"	"Oller Ramirez, SAG2017, Cordoba"	""	""	"HEX activity 0.0118"	"Germline"	""	""	"0"	""	""	"g.74689474G>A"	""	"pathogenic"	""
"0000222218"	"2"	"90"	"5"	"73985299"	"73985299"	"subst"	"0"	"00006"	"HEXB_000011"	"g.73985299G>A"	"118/132 case chromosomes"	"Oller Ramirez, SAG2017, Cordoba"	""	""	"combined HEX activity 0.0251"	"Germline"	""	""	"0"	""	""	"g.74689474G>A"	""	"pathogenic"	""
"0000222219"	"2"	"90"	"5"	"74014669"	"74014669"	"dup"	"0"	"00006"	"HEXB_000006"	"g.74014669dup"	"1/132 case chromosomes"	"Oller Ramirez, SAG2017, Cordoba"	""	"1290dupT"	""	"Germline"	""	""	"0"	""	""	"g.74718844dup"	""	"pathogenic"	""
"0000222220"	"2"	"90"	"5"	"74009355"	"74009355"	"subst"	"2.43688E-5"	"00006"	"HEXB_000013"	"g.74009355T>G"	"1/132 case chromosomes"	"Oller Ramirez, SAG2017, Cordoba"	""	""	"combined HEX activity 0.0265"	"Germline"	""	""	"0"	""	""	"g.74713530T>G"	""	"pathogenic"	""
"0000222221"	"1"	"90"	"5"	"74011520"	"74011520"	"subst"	"0"	"00006"	"HEXB_000003"	"g.74011520G>A"	"2/132 case chromosomes"	"Oller Ramirez, SAG2017, Cordoba"	""	""	"not in 200 control individuals; combined HEX activity 0.0251"	"Germline"	""	""	"0"	""	""	"g.74715695G>A"	""	"pathogenic"	""
"0000222222"	"2"	"90"	"5"	"74016286"	"74016286"	"subst"	"0"	"00006"	"HEXB_000007"	"g.74016286G>A"	"2/132 case chromosomes"	"Oller Ramirez, SAG2017, Cordoba"	""	""	"not in 200 control individuals"	"Germline"	""	""	"0"	""	""	"g.74720461G>A"	""	"pathogenic"	""
"0000222223"	"2"	"90"	"5"	"74016286"	"74016286"	"subst"	"0"	"00006"	"HEXB_000007"	"g.74016286G>A"	"2/132 case chromosomes"	"Oller Ramirez, SAG2017, Cordoba"	""	""	"not in 200 control individuals"	"Germline"	""	""	"0"	""	""	"g.74720461G>A"	""	"pathogenic"	""
"0000222224"	"2"	"90"	"5"	"74014189"	"74014189"	"subst"	"4.06279E-6"	"00006"	"HEXB_000005"	"g.74014189G>A"	"2/132 case chromosomes"	"Oller Ramirez, SAG2017, Cordoba"	""	""	"not in 200 control individuals"	"Germline"	""	""	"0"	""	""	"g.74718364G>A"	""	"pathogenic"	""
"0000222225"	"2"	"90"	"5"	"74014189"	"74014189"	"subst"	"4.06279E-6"	"00006"	"HEXB_000005"	"g.74014189G>A"	"2/132 case chromosomes"	"Oller Ramirez, SAG2017, Cordoba"	""	""	"not in 200 control individuals"	"Germline"	""	""	"0"	""	""	"g.74718364G>A"	""	"pathogenic"	""
"0000222226"	"2"	"90"	"5"	"74016560"	"74016560"	"subst"	"0"	"00006"	"HEXB_000009"	"g.74016560G>A"	"1/132 case chromosomes"	"Oller Ramirez, SAG2017, Cordoba"	""	""	"not in 200 control individuals"	"Germline"	""	""	"0"	""	""	"g.74720735G>A"	""	"pathogenic"	""
"0000222227"	"2"	"90"	"5"	"74016556"	"74016556"	"subst"	"3.25187E-5"	"00006"	"HEXB_000008"	"g.74016556C>T"	"1/132 case chromosomes"	"Oller Ramirez, SAG2017, Cordoba"	""	""	"not in 200 control individuals"	"Germline"	""	""	"0"	""	""	"g.74720731C>T"	""	"pathogenic"	""
"0000222228"	"3"	"90"	"5"	"73985299"	"73985299"	"subst"	"0"	"00006"	"HEXB_000011"	"g.73985299G>A"	"118/132 case chromosomes"	"Oller Ramirez, SAG2017, Cordoba"	""	""	"HEX activity 0.0158"	"Germline"	""	""	"0"	""	""	"g.74689474G>A"	""	"pathogenic"	""
"0000222229"	"3"	"90"	"5"	"73985299"	"73985299"	"subst"	"0"	"00006"	"HEXB_000011"	"g.73985299G>A"	"118/132 case chromosomes"	"Oller Ramirez, SAG2017, Cordoba"	""	""	"HEX activity 0.0215"	"Germline"	""	""	"0"	""	""	"g.74689474G>A"	""	"pathogenic"	""
"0000222230"	"3"	"90"	"5"	"73985299"	"73985299"	"subst"	"0"	"00006"	"HEXB_000011"	"g.73985299G>A"	"118/132 case chromosomes"	"Oller Ramirez, SAG2017, Cordoba"	""	""	"HEX activity 0.0132"	"Germline"	""	""	"0"	""	""	"g.74689474G>A"	""	"pathogenic"	""
"0000222231"	"1"	"90"	"5"	"73985299"	"73985299"	"subst"	"0"	"00006"	"HEXB_000011"	"g.73985299G>A"	"118/132 case chromosomes"	"Oller Ramirez, SAG2017, Cordoba"	""	""	""	"Germline"	""	""	"0"	""	""	"g.74689474G>A"	""	"pathogenic"	""
"0000222232"	"1"	"90"	"5"	"74016944"	"74016944"	"subst"	"2.0333E-5"	"00006"	"HEXB_000010"	"g.74016944C>T"	"1/132 case chromosomes"	"Oller Ramirez, SAG2017, Cordoba"	""	""	"combined HEX activity 0.0265"	"Germline"	""	""	"0"	""	""	"g.74721119C>T"	""	"pathogenic"	""
"0000222233"	"3"	"90"	"5"	"73985299"	"73985299"	"subst"	"0"	"00006"	"HEXB_000011"	"g.73985299G>A"	"118/132 case chromosomes"	"Oller Ramirez, SAG2017, Cordoba"	""	""	""	"Germline"	""	""	"0"	""	""	"g.74689474G>A"	""	"pathogenic"	""
"0000222234"	"0"	"90"	"5"	"73985299"	"73985299"	"subst"	"0"	"00006"	"HEXB_000011"	"g.73985299G>A"	"9/200 controls"	"Oller Ramirez, SAG2017, Cordoba"	""	""	""	"Germline"	""	""	"0"	""	""	"g.74689474G>A"	""	"pathogenic"	""
"0000222235"	"1"	"90"	"5"	"73985299"	"73985299"	"subst"	"0"	"00006"	"HEXB_000011"	"g.73985299G>A"	"118/132 case chromosomes"	"Oller Ramirez, SAG2017, Cordoba"	""	""	""	"Germline"	""	""	"0"	""	""	"g.74689474G>A"	""	"pathogenic"	""
"0000222236"	"1"	"90"	"5"	"73985299"	"73985299"	"subst"	"0"	"00006"	"HEXB_000011"	"g.73985299G>A"	"118/132 case chromosomes"	"Oller Ramirez, SAG2017, Cordoba"	""	""	""	"Germline"	""	""	"0"	""	""	"g.74689474G>A"	""	"pathogenic"	""
"0000222237"	"1"	"90"	"5"	"73985299"	"73985299"	"subst"	"0"	"00006"	"HEXB_000011"	"g.73985299G>A"	"118/132 case chromosomes"	"Oller Ramirez, SAG2017, Cordoba"	""	""	""	"Germline"	""	""	"0"	""	""	"g.74689474G>A"	""	"pathogenic"	""
"0000222238"	"1"	"90"	"5"	"73985299"	"73985299"	"subst"	"0"	"00006"	"HEXB_000011"	"g.73985299G>A"	"118/132 case chromosomes"	"Oller Ramirez, SAG2017, Cordoba"	""	""	""	"Germline"	""	""	"0"	""	""	"g.74689474G>A"	""	"pathogenic"	""
"0000222239"	"1"	"90"	"5"	"74011520"	"74011520"	"subst"	"0"	"00006"	"HEXB_000003"	"g.74011520G>A"	"2/132 case chromosomes"	"Oller Ramirez, SAG2017, Cordoba"	""	""	"not in 200 control individuals"	"Germline"	""	""	"0"	""	""	"g.74715695G>A"	""	"pathogenic"	""
"0000222240"	"1"	"90"	"5"	"73985299"	"73985299"	"subst"	"0"	"00006"	"HEXB_000011"	"g.73985299G>A"	"118/132 case chromosomes"	"Oller Ramirez, SAG2017, Cordoba"	""	""	""	"Germline"	""	""	"0"	""	""	"g.74689474G>A"	""	"pathogenic"	""
"0000222241"	"0"	"90"	"5"	"74009341"	"74009344"	"del"	"0"	"00006"	"HEXB_000012"	"g.74009341_74009344del"	"1/132 case chromosomes"	"Oller Ramirez, SAG2017, Cordoba"	""	"782_785delCTTT"	"not in 200 control individuals"	"Germline"	""	""	"0"	""	""	"g.74713516_74713519del"	""	"pathogenic"	""
"0000248788"	"0"	"10"	"5"	"73992881"	"73992881"	"subst"	"0.159289"	"02325"	"HEXB_000001"	"g.73992881A>G"	""	""	""	"HEXB(NM_000521.4):c.619A>G (p.I207V)"	"VKGL data sharing initiative Nederland"	"CLASSIFICATION record"	""	""	"0"	""	""	"g.74697056A>G"	""	"benign"	""
"0000255232"	"0"	"30"	"5"	"73985305"	"73985305"	"subst"	"0"	"01943"	"HEXB_000017"	"g.73985305A>G"	""	""	""	"HEXB(NM_000521.3):c.445+7A>G"	"VKGL data sharing initiative Nederland"	"CLASSIFICATION record"	""	""	"0"	""	""	"g.74689480A>G"	""	"likely benign"	""
"0000281292"	"0"	"10"	"5"	"73981270"	"73981270"	"subst"	"0.971567"	"02325"	"HEXB_000015"	"g.73981270T>C"	""	""	""	"HEXB(NM_000521.4):c.185T>C (p.L62S)"	"VKGL data sharing initiative Nederland"	"CLASSIFICATION record"	""	""	"0"	""	""	"g.74685445T>C"	""	"benign"	""
"0000281293"	"0"	"50"	"5"	"74001089"	"74001089"	"subst"	"0.000361539"	"02325"	"HEXB_000018"	"g.74001089G>A"	""	""	""	"HEXB(NM_000521.3):c.715G>A (p.V239I, p.(Val239Ile)), HEXB(NM_001292004.2):c.40G>A (p.V14I)"	"VKGL data sharing initiative Nederland"	"CLASSIFICATION record"	""	""	"0"	""	""	"g.74705264G>A"	""	"VUS"	""
"0000289042"	"0"	"10"	"5"	"73981361"	"73981361"	"subst"	"0.00146093"	"01943"	"HEXB_000016"	"g.73981361C>T"	""	""	""	"HEXB(NM_000521.3):c.276C>T (p.T92=)"	"VKGL data sharing initiative Nederland"	"CLASSIFICATION record"	""	""	"0"	""	""	"g.74685536C>T"	""	"benign"	""
"0000289043"	"0"	"30"	"5"	"73981124"	"73981124"	"subst"	"6.46429E-6"	"01943"	"HEXB_000014"	"g.73981124G>A"	""	""	""	"HEXB(NM_000521.3):c.39G>A (p.M13I)"	"VKGL data sharing initiative Nederland"	"CLASSIFICATION record"	""	""	"0"	""	""	"g.74685299G>A"	""	"likely benign"	""
"0000289044"	"0"	"50"	"5"	"74001089"	"74001089"	"subst"	"0.000361539"	"01943"	"HEXB_000018"	"g.74001089G>A"	""	""	""	"HEXB(NM_000521.3):c.715G>A (p.V239I, p.(Val239Ile)), HEXB(NM_001292004.2):c.40G>A (p.V14I)"	"VKGL data sharing initiative Nederland"	"CLASSIFICATION record"	""	""	"0"	""	""	"g.74705264G>A"	""	"VUS"	""
"0000338685"	"0"	"90"	"5"	"73992565"	"73992565"	"subst"	"0"	"02327"	"HEXB_000021"	"g.73992565G>C"	""	""	""	""	"VKGL data sharing initiative Nederland"	"CLASSIFICATION record"	""	""	"0"	""	""	"g.74696740G>C"	""	"pathogenic"	""
"0000342240"	"0"	"50"	"5"	"73992895"	"73992895"	"subst"	"0"	"02327"	"HEXB_000022"	"g.73992895A>T"	""	""	""	""	"VKGL data sharing initiative Nederland"	"CLASSIFICATION record"	""	""	"0"	""	""	"g.74697070A>T"	""	"VUS"	""
"0000342532"	"0"	"50"	"5"	"74009410"	"74009410"	"subst"	"1.62443E-5"	"02327"	"HEXB_000023"	"g.74009410G>A"	""	""	""	""	"VKGL data sharing initiative Nederland"	"CLASSIFICATION record"	""	""	"0"	""	""	"g.74713585G>A"	""	"VUS"	""
"0000347204"	"0"	"50"	"5"	"74016497"	"74016497"	"subst"	"8.13021E-6"	"02327"	"HEXB_000025"	"g.74016497T>C"	""	""	""	""	"VKGL data sharing initiative Nederland"	"CLASSIFICATION record"	""	""	"0"	""	""	"g.74720672T>C"	""	"VUS"	""
"0000349829"	"0"	"90"	"5"	"73981255"	"73981255"	"subst"	"0"	"02327"	"HEXB_000019"	"g.73981255G>A"	""	""	""	""	"VKGL data sharing initiative Nederland"	"CLASSIFICATION record"	""	""	"0"	""	""	"g.74685430G>A"	""	"pathogenic"	""
"0000351361"	"0"	"90"	"5"	"74011333"	"74011333"	"subst"	"4.06362E-6"	"02327"	"HEXB_000024"	"g.74011333A>G"	""	""	""	""	"VKGL data sharing initiative Nederland"	"CLASSIFICATION record"	""	""	"0"	""	""	"g.74715508A>G"	""	"pathogenic"	""
"0000525997"	"0"	"30"	"5"	"73930637"	"73930637"	"subst"	"9.33957E-5"	"01943"	"HEXB_000026"	"g.73930637G>A"	""	""	""	"ENC1(NM_001256574.1):c.1674C>T (p.Y558=)"	"VKGL data sharing initiative Nederland"	"CLASSIFICATION record"	""	""	""	""	""	"g.74634812G>A"	""	"likely benign"	""
"0000525998"	"0"	"30"	"5"	"73931471"	"73931471"	"subst"	"6.09746E-5"	"01943"	"HEXB_000027"	"g.73931471G>A"	""	""	""	"ENC1(NM_001256574.1):c.840C>T (p.D280=)"	"VKGL data sharing initiative Nederland"	"CLASSIFICATION record"	""	""	""	""	""	"g.74635646G>A"	""	"likely benign"	""
"0000525999"	"0"	"30"	"5"	"73981343"	"73981343"	"subst"	"0"	"02325"	"HEXB_000028"	"g.73981343G>A"	""	""	""	"HEXB(NM_000521.4):c.258G>A (p.T86=)"	"VKGL data sharing initiative Nederland"	"CLASSIFICATION record"	""	""	""	""	""	"g.74685518G>A"	""	"likely benign"	""
"0000526001"	"0"	"50"	"5"	"74014629"	"74014629"	"subst"	"0.000613622"	"01943"	"HEXB_000030"	"g.74014629C>T"	""	""	""	"HEXB(NM_001292004.1):c.575C>T (p.P192L), HEXB(NM_001292004.2):c.575C>T (p.P192L)"	"VKGL data sharing initiative Nederland"	"CLASSIFICATION record"	""	""	""	""	""	"g.74718804C>T"	""	"VUS"	""
"0000526002"	"0"	"90"	"5"	"74014629"	"74014629"	"subst"	"0.000613622"	"02329"	"HEXB_000030"	"g.74014629C>T"	""	""	""	"HEXB(NM_001292004.1):c.575C>T (p.P192L), HEXB(NM_001292004.2):c.575C>T (p.P192L)"	"VKGL data sharing initiative Nederland"	"CLASSIFICATION record"	""	""	""	""	""	"g.74718804C>T"	""	"pathogenic"	""
"0000526003"	"0"	"30"	"5"	"74014795"	"74014795"	"subst"	"4.46744E-5"	"01943"	"HEXB_000031"	"g.74014795C>T"	""	""	""	"HEXB(NM_001292004.1):c.741C>T (p.G247=)"	"VKGL data sharing initiative Nederland"	"CLASSIFICATION record"	""	""	""	""	""	"g.74718970C>T"	""	"likely benign"	""
"0000526004"	"0"	"30"	"5"	"74016474"	"74016474"	"subst"	"0"	"02325"	"HEXB_000032"	"g.74016474G>A"	""	""	""	"HEXB(NM_001292004.2):c.840G>A (p.R280=)"	"VKGL data sharing initiative Nederland"	"CLASSIFICATION record"	""	""	""	""	""	"g.74720649G>A"	""	"likely benign"	""
"0000526005"	"0"	"30"	"5"	"74016956"	"74016956"	"subst"	"0.000898513"	"02325"	"HEXB_000033"	"g.74016956G>A"	""	""	""	"HEXB(NM_001292004.2):c.952G>A (p.A318T)"	"VKGL data sharing initiative Nederland"	"CLASSIFICATION record"	""	""	""	""	""	"g.74721131G>A"	""	"likely benign"	""
"0000526007"	"0"	"30"	"5"	"74046495"	"74046495"	"subst"	"0.000217138"	"01943"	"HEXB_000035"	"g.74046495A>G"	""	""	""	"GFM2(NM_001281302.1):c.527-3T>C"	"VKGL data sharing initiative Nederland"	"CLASSIFICATION record"	""	""	""	""	""	"g.74750670A>G"	""	"likely benign"	""
"0000526008"	"0"	"90"	"5"	"74047274"	"74047274"	"subst"	"4.06511E-6"	"02325"	"HEXB_000036"	"g.74047274G>A"	""	""	""	"GFM2(NM_001281302.2):c.445C>T (p.R149*)"	"VKGL data sharing initiative Nederland"	"CLASSIFICATION record"	""	""	""	""	""	"g.74751449G>A"	""	"pathogenic"	""
"0000609788"	"0"	"30"	"5"	"73981274"	"73981274"	"subst"	"0"	"01943"	"HEXB_000037"	"g.73981274G>A"	""	""	""	"HEXB(NM_000521.3):c.189G>A (p.V63=)"	"VKGL data sharing initiative Nederland"	"CLASSIFICATION record"	""	""	""	""	""	"g.74685449G>A"	""	"likely benign"	""
"0000609789"	"0"	"50"	"5"	"74001089"	"74001089"	"subst"	"0.000361539"	"01804"	"HEXB_000018"	"g.74001089G>A"	""	""	""	"HEXB(NM_000521.3):c.715G>A (p.V239I, p.(Val239Ile)), HEXB(NM_001292004.2):c.40G>A (p.V14I)"	"VKGL data sharing initiative Nederland"	"CLASSIFICATION record"	""	""	""	""	""	"g.74705264G>A"	""	"VUS"	""
"0000651756"	"1"	"30"	"5"	"73981299"	"73981299"	"subst"	"0.00769428"	"03575"	"HEXB_000040"	"g.73981299C>T"	"43/2795 individuals"	"{PMID:Narang 2020:32906206}, {DOI:Narang 2020:10.1002/humu.24102}"	""	""	"43 heterozygous; {DB:CLININrs147155126}"	"Germline"	""	"rs147155126"	"0"	""	""	"g.74685474C>T"	""	"likely benign"	""
"0000651757"	"1"	"70"	"5"	"74001150"	"74001150"	"subst"	"0"	"03575"	"HEXB_000041"	"g.74001150G>C"	"1/2792 individuals"	"{PMID:Narang 2020:32906206}, {DOI:Narang 2020:10.1002/humu.24102}"	""	""	"1 heterozygous, no homozygous; {DB:CLININrs727503959}"	"Germline"	""	"rs727503959"	"0"	""	""	"g.74705325G>C"	""	"likely pathogenic"	""
"0000651758"	"1"	"90"	"5"	"74009409"	"74009409"	"subst"	"2.8428E-5"	"03575"	"HEXB_000042"	"g.74009409C>T"	"1/2791 individuals"	"{PMID:Narang 2020:32906206}, {DOI:Narang 2020:10.1002/humu.24102}"	""	""	"1 heterozygous, no homozygous; {DB:CLININrs121907986}"	"Germline"	""	"rs121907986"	"0"	""	""	"g.74713584C>T"	""	"pathogenic"	""
"0000651759"	"1"	"30"	"5"	"74016956"	"74016956"	"subst"	"0.000898513"	"03575"	"HEXB_000033"	"g.74016956G>A"	"17/2795 individuals"	"{PMID:Narang 2020:32906206}, {DOI:Narang 2020:10.1002/humu.24102}"	""	""	"17 heterozygous, no homozygous; {DB:CLININrs121907984}"	"Germline"	""	"rs121907984"	"0"	""	""	"g.74721131G>A"	""	"likely benign"	""
"0000655409"	"0"	"30"	"5"	"74014717"	"74014717"	"subst"	"8.12367E-6"	"01943"	"HEXB_000043"	"g.74014717T>A"	""	""	""	"HEXB(NM_000521.4):c.1338T>A (p.(Ser446=)), HEXB(NM_001292004.1):c.663T>A (p.S221=)"	"VKGL data sharing initiative Nederland"	"CLASSIFICATION record"	""	""	""	""	""	"g.74718892T>A"	""	"likely benign"	""
"0000669858"	"3"	"30"	"5"	"73981299"	"73981299"	"subst"	"0.00769428"	"03575"	"HEXB_000040"	"g.73981299C>T"	"1/2795 individuals"	"{PMID:Narang 2020:32906206}, {DOI:Narang 2020:10.1002/humu.24102}"	""	""	"1 homozygous; {DB:CLININrs147155126}"	"Germline"	""	"rs147155126"	"0"	""	""	"g.74685474C>T"	""	"likely benign"	""
"0000677544"	"0"	"90"	"5"	"73992558"	"73992558"	"subst"	"0"	"02327"	"HEXB_000044"	"g.73992558T>G"	""	""	""	""	"VKGL data sharing initiative Nederland"	"CLASSIFICATION record"	""	""	""	""	""	""	""	"pathogenic"	""
"0000720487"	"0"	"30"	"5"	"73985236"	"73985236"	"subst"	"0.000353429"	"01943"	"HEXB_000045"	"g.73985236T>G"	""	""	""	"HEXB(NM_000521.3):c.383T>G (p.L128R)"	"VKGL data sharing initiative Nederland"	"CLASSIFICATION record"	""	""	""	""	""	""	""	"likely benign"	""
"0000720488"	"0"	"90"	"5"	"74009385"	"74009388"	"del"	"0"	"02329"	"HEXB_000038"	"g.74009385_74009388del"	""	""	""	"HEXB(NM_001292004.2):c.151_154delGAAT (p.E51Mfs*30)"	"VKGL data sharing initiative Nederland"	"CLASSIFICATION record"	""	""	""	""	""	""	""	"pathogenic"	""
"0000720489"	"0"	"90"	"5"	"74016442"	"74016442"	"subst"	"4.8813E-5"	"02327"	"HEXB_000046"	"g.74016442G>A"	""	""	""	"HEXB(NM_000521.3):c.1509-26G>A"	"VKGL data sharing initiative Nederland"	"CLASSIFICATION record"	""	""	""	""	""	""	""	"pathogenic"	""
"0000720490"	"0"	"90"	"5"	"74016509"	"74016512"	"dup"	"0"	"02329"	"HEXB_000039"	"g.74016509_74016512dup"	""	""	""	"HEXB(NM_001292004.2):c.875_878dupAAGA (p.D293Efs*8)"	"VKGL data sharing initiative Nederland"	"CLASSIFICATION record"	""	""	""	""	""	""	""	"pathogenic"	""
"0000720491"	"0"	"50"	"5"	"74018233"	"74018233"	"dup"	"0"	"02325"	"HEXB_000047"	"g.74018233dup"	""	""	""	"GFM2(NM_032380.5):c.2182dupA (p.I728Nfs*66)"	"VKGL data sharing initiative Nederland"	"CLASSIFICATION record"	""	""	""	""	""	""	""	"VUS"	""
"0000764670"	"3"	"90"	"5"	"74012410"	"74012410"	"del"	"0"	"04052"	"HEXB_000048"	"g.74012410del"	""	""	""	"1083-2delA"	""	"Germline"	""	""	"0"	""	""	"g.74716585del"	""	"pathogenic"	""
"0000802173"	"0"	"30"	"5"	"73981092"	"73981092"	"subst"	"0"	"01943"	"HEXB_000049"	"g.73981092C>T"	""	""	""	"HEXB(NM_000521.3):c.7C>T (p.L3=)"	"VKGL data sharing initiative Nederland"	"CLASSIFICATION record"	""	""	""	""	""	""	""	"likely benign"	""
"0000802174"	"0"	"50"	"5"	"74016484"	"74016484"	"subst"	"0"	"01943"	"HEXB_000050"	"g.74016484G>A"	""	""	""	"HEXB(NM_001292004.1):c.850G>A (p.V284I)"	"VKGL data sharing initiative Nederland"	"CLASSIFICATION record"	""	""	""	""	""	""	""	"VUS"	""
"0000802175"	"0"	"30"	"5"	"74016954"	"74016954"	"subst"	"4.06554E-6"	"01943"	"HEXB_000051"	"g.74016954C>A"	""	""	""	"HEXB(NM_000521.4):c.1625C>A (p.(Ala542Asp)), HEXB(NM_001292004.1):c.950C>A (p.A317D)"	"VKGL data sharing initiative Nederland"	"CLASSIFICATION record"	""	""	""	""	""	""	""	"likely benign"	""
"0000802176"	"0"	"30"	"5"	"74016999"	"74016999"	"subst"	"8.53395E-5"	"01943"	"HEXB_000052"	"g.74016999A>G"	""	""	""	"HEXB(NM_001292004.1):c.995A>G (p.*332=)"	"VKGL data sharing initiative Nederland"	"CLASSIFICATION record"	""	""	""	""	""	""	""	"likely benign"	""
"0000850959"	"0"	"90"	"5"	"74014629"	"74014629"	"subst"	"0.000613622"	"02327"	"HEXB_000030"	"g.74014629C>T"	""	""	""	"HEXB(NM_001292004.1):c.575C>T (p.P192L), HEXB(NM_001292004.2):c.575C>T (p.P192L)"	"VKGL data sharing initiative Nederland"	"CLASSIFICATION record"	""	""	""	""	""	""	""	"pathogenic"	""
"0000850960"	"0"	"10"	"5"	"74014637"	"74014637"	"subst"	"0.00216499"	"02326"	"HEXB_000053"	"g.74014637A>G"	""	""	""	"HEXB(NM_000521.3):c.1258A>G (p.I420V)"	"VKGL data sharing initiative Nederland"	"CLASSIFICATION record"	""	""	""	""	""	""	""	"benign"	""
"0000859995"	"0"	"30"	"5"	"74017533"	"74017533"	"subst"	"4.88178E-5"	"01943"	"HEXB_000054"	"g.74017533T>C"	""	""	""	"GFM2(NM_001281302.1):c.2383A>G (p.M795V), GFM2(NM_032380.5):c.2287A>G (p.M763V)"	"VKGL data sharing initiative Nederland"	"CLASSIFICATION record"	""	""	""	""	""	""	""	"likely benign"	""
"0000859996"	"0"	"50"	"5"	"74035829"	"74035829"	"subst"	"3.90339E-5"	"01943"	"HEXB_000055"	"g.74035829C>T"	""	""	""	"GFM2(NM_001281302.1):c.1160G>A (p.R387H)"	"VKGL data sharing initiative Nederland"	"CLASSIFICATION record"	""	""	""	""	""	""	""	"VUS"	""
"0000873915"	"0"	"10"	"5"	"73992881"	"73992881"	"subst"	"0.159289"	"00000"	"HEXB_000001"	"g.73992881A>G"	""	"{PMID:Bell 2011:21228398}"	""	"HEXB 5:7402863 (hg18) het CM910221 23.1%"	"non-causative, heterozygous"	"Germline"	"?"	""	"0"	""	""	"g.74697056A>G"	""	"benign"	""
"0000874674"	"3"	"70"	"5"	"74012501"	"74012508"	"del"	"0"	"00000"	"HEXB_000004"	"g.74012501_74012508del"	"frequency in 1500 in-house samples: 0"	"{PMID:Alfares 2018:30202406}"	""	"HEXB, NM_000521.3, c.1169+3_1169+10del"	"homozygous"	"Unknown"	"?"	""	"0"	""	""	"g.74716676_74716683del"	""	"likely pathogenic"	"ACMG"
"0000912359"	"0"	"10"	"5"	"73981270"	"73981270"	"subst"	"0.971567"	"02327"	"HEXB_000015"	"g.73981270T>C"	""	""	""	"HEXB(NM_000521.4):c.185T>C (p.L62S)"	"VKGL data sharing initiative Nederland"	"CLASSIFICATION record"	""	""	""	""	""	""	""	"benign"	""
"0000912360"	"0"	"10"	"5"	"73985215"	"73985215"	"subst"	"0.197305"	"02327"	"HEXB_000056"	"g.73985215A>G"	""	""	""	"HEXB(NM_000521.3):c.362A>G (p.K121R)"	"VKGL data sharing initiative Nederland"	"CLASSIFICATION record"	""	""	""	""	""	""	""	"benign"	""
"0000912361"	"0"	"30"	"5"	"73989467"	"73989467"	"subst"	"0.00249328"	"02326"	"HEXB_000057"	"g.73989467C>A"	""	""	""	"HEXB(NM_000521.3):c.449C>A (p.T150N)"	"VKGL data sharing initiative Nederland"	"CLASSIFICATION record"	""	""	""	""	""	""	""	"likely benign"	""
"0000917424"	"1"	"90"	"5"	"74016472"	"74016472"	"subst"	"1.21984E-5"	"00006"	"HEXB_000059"	"g.74016472C>T"	""	"{PMID:Granger 2022:36628841}"	""	""	""	"Germline"	""	""	"0"	""	""	"g.74720647C>T"	""	"pathogenic (recessive)"	""
"0000917425"	"2"	"90"	"5"	"73980969"	"74017113"	"del"	"0"	"00006"	"HEXB_000058"	"g.(?_73980969)_(74017113_?)del"	""	"{PMID:Granger 2022:36628841}"	""	""	""	"Germline"	""	""	"0"	""	""	"g.(?_74685144)_(74721288_?)del"	""	"pathogenic (recessive)"	""
"0000929098"	"0"	"70"	"5"	"74018610"	"74018610"	"subst"	"0"	"02325"	"HEXB_000060"	"g.74018610G>A"	""	""	""	"GFM2(NM_001281302.2):c.2125-224C>T"	"VKGL data sharing initiative Nederland"	"CLASSIFICATION record"	""	""	""	""	""	""	""	"likely pathogenic"	""
"0000948572"	"0"	"90"	"5"	"74016442"	"74016442"	"subst"	"4.8813E-5"	"02326"	"HEXB_000046"	"g.74016442G>A"	""	""	""	"HEXB(NM_000521.3):c.1509-26G>A"	"VKGL data sharing initiative Nederland"	"CLASSIFICATION record"	""	""	""	""	""	""	""	"pathogenic"	""
"0000948573"	"0"	"50"	"5"	"74017533"	"74017533"	"subst"	"4.88178E-5"	"02325"	"HEXB_000054"	"g.74017533T>C"	""	""	""	"GFM2(NM_001281302.1):c.2383A>G (p.M795V), GFM2(NM_032380.5):c.2287A>G (p.M763V)"	"VKGL data sharing initiative Nederland"	"CLASSIFICATION record"	""	""	""	""	""	""	""	"VUS"	""
"0000948574"	"0"	"50"	"5"	"74021500"	"74021500"	"subst"	"0"	"02325"	"HEXB_000061"	"g.74021500T>C"	""	""	""	"GFM2(NM_032380.5):c.1993A>G (p.M665V)"	"VKGL data sharing initiative Nederland"	"CLASSIFICATION record"	""	""	""	""	""	""	""	"VUS"	""
"0000948575"	"0"	"50"	"5"	"74043583"	"74043583"	"subst"	"0"	"02325"	"HEXB_000062"	"g.74043583C>T"	""	""	""	"GFM2(NM_032380.5):c.542G>A (p.R181K)"	"VKGL data sharing initiative Nederland"	"CLASSIFICATION record"	""	""	""	""	""	""	""	"VUS"	""
"0000976847"	"0"	"10"	"5"	"74017082"	"74017083"	"del"	"0"	"02326"	"HEXB_000063"	"g.74017082_74017083del"	""	""	""	"GFM2(NM_032380.5):c.*398_*399delCA, HEXB(NM_000521.3):c.*82_*83delGT"	"VKGL data sharing initiative Nederland"	"CLASSIFICATION record"	""	""	""	""	""	""	""	"benign"	""
"0000995162"	"0"	"30"	"5"	"73981137"	"73981137"	"subst"	"0"	"02326"	"HEXB_000064"	"g.73981137C>T"	""	""	""	"HEXB(NM_000521.3):c.52C>T (p.L18=)"	"VKGL data sharing initiative Nederland"	"CLASSIFICATION record"	""	""	""	""	""	""	""	"likely benign"	""
"0000995163"	"0"	"10"	"5"	"73985121"	"73985121"	"subst"	"0.202706"	"02326"	"HEXB_000065"	"g.73985121C>T"	""	""	""	"HEXB(NM_000521.3):c.300-32C>T"	"VKGL data sharing initiative Nederland"	"CLASSIFICATION record"	""	""	""	""	""	""	""	"benign"	""
"0000995164"	"0"	"10"	"5"	"73985215"	"73985215"	"subst"	"0.197305"	"02326"	"HEXB_000056"	"g.73985215A>G"	""	""	""	"HEXB(NM_000521.3):c.362A>G (p.K121R)"	"VKGL data sharing initiative Nederland"	"CLASSIFICATION record"	""	""	""	""	""	""	""	"benign"	""
"0001007067"	"11"	"90"	"5"	"74016442"	"74016442"	"subst"	"4.8813E-5"	"03544"	"HEXB_000046"	"g.74016442G>A"	""	""	""	""	""	"Germline"	"yes"	"rs201580118"	"0"	""	""	"g.74720617G>A"	"{CV:527971}"	"pathogenic"	"ACMG"
"0001007068"	"21"	"90"	"5"	"74016537"	"74016537"	"subst"	"0"	"03544"	"HEXB_000066"	"g.74016537T>G"	""	""	""	""	""	"Germline"	"yes"	"rs1460801055"	"0"	""	""	"g.74720712T>G"	"{CV:1071217}"	"pathogenic"	"ACMG"
"0001007089"	"1"	"90"	"5"	"74016442"	"74016442"	"subst"	"4.8813E-5"	"00006"	"HEXB_000046"	"g.74016442G>A"	""	"{PMID:Nakano 1989:2522450}, {PMID:Dlott 1990:2170400}"	""	""	"total enzyme deficiency"	"Germline"	""	""	"0"	""	""	"NC_000005.10:g.74720617G>A"	""	"pathogenic (recessive)"	""
"0001007095"	"1"	"90"	"5"	"74016442"	"74016442"	"subst"	"4.8813E-5"	"00006"	"HEXB_000046"	"g.74016442G>A"	""	"{PMID:Dlott 1990:2170400}"	""	"IVS12-26G>A"	""	"Germline"	""	""	"0"	""	""	"g.74720617G>A"	""	"pathogenic (recessive)"	""
"0001007100"	"1"	"90"	"5"	"74016442"	"74016442"	"subst"	"4.8813E-5"	"00006"	"HEXB_000046"	"g.74016442G>A"	""	"{PMID:Dlott 1990:2170400}"	""	""	""	"Germline"	""	""	"0"	""	""	"g.74720617G>A"	""	"pathogenic (recessive)"	""
"0001007101"	"11"	"90"	"5"	"74016927"	"74016944"	"dup"	"0"	"00006"	"HEXB_000067"	"g.74016927_74016944dup"	""	"{PMID:Dlott 1990:2170400}"	""	""	""	"Germline"	""	""	"0"	""	""	"g.74721102_74721119dup"	""	"pathogenic (recessive)"	""
"0001012446"	"1"	"50"	"5"	"73985236"	"73985236"	"subst"	"0.000353429"	"00006"	"HEXB_000045"	"g.73985236T>G"	""	"{PMID:Fernandez-Marmiesse 2014:24767253}"	""	""	""	"Germline"	""	""	"0"	""	""	"g.74689411T>G"	""	"VUS"	""
"0001035307"	"0"	"50"	"5"	"74016954"	"74016954"	"subst"	"4.06554E-6"	"01804"	"HEXB_000051"	"g.74016954C>A"	""	""	""	"HEXB(NM_000521.4):c.1625C>A (p.(Ala542Asp)), HEXB(NM_001292004.1):c.950C>A (p.A317D)"	"VKGL data sharing initiative Nederland"	"CLASSIFICATION record"	""	""	""	""	""	""	""	"VUS"	""
"0001049746"	"3"	"70"	"5"	"73981255"	"73981255"	"subst"	"0"	"00006"	"HEXB_000019"	"g.73981255G>A"	""	"{PMID:Charng 2016:27435318}"	""	""	"ACMG PVS1, PM2"	"Germline"	""	""	"0"	""	""	"g.74685430G>A"	""	"likely pathogenic (recessive)"	""
"0001051994"	"0"	"50"	"5"	"74014717"	"74014717"	"subst"	"8.12367E-6"	"01804"	"HEXB_000043"	"g.74014717T>A"	""	""	""	"HEXB(NM_000521.4):c.1338T>A (p.(Ser446=)), HEXB(NM_001292004.1):c.663T>A (p.S221=)"	"VKGL data sharing initiative Nederland"	"CLASSIFICATION record"	""	""	""	""	""	""	""	"VUS"	""
"0001051995"	"0"	"50"	"5"	"74017496"	"74017496"	"subst"	"0"	"01804"	"HEXB_000068"	"g.74017496C>T"	""	""	""	"GFM2(NM_032380.5):c.2324G>A (p.(Arg775Lys))"	"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 HEXB
## Count = 123
"{{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}}"
"0000001023"	"00000096"	"50"	"619"	"0"	"619"	"0"	"c.619A>G"	"r.(?)"	"p.(Ile207Val)"	"5"
"0000001024"	"00000096"	"50"	"619"	"0"	"619"	"0"	"c.619A>G"	"r.(?)"	"p.(Ile207Val)"	"5"
"0000001025"	"00000096"	"50"	"619"	"0"	"619"	"0"	"c.619A>G"	"r.(?)"	"p.(Ile207Val)"	"5"
"0000001027"	"00000096"	"50"	"619"	"0"	"619"	"0"	"c.619A>G"	"r.(?)"	"p.(Ile207Val)"	"5"
"0000001028"	"00000096"	"50"	"619"	"0"	"619"	"0"	"c.619A>G"	"r.(?)"	"p.(Ile207Val)"	"5"
"0000001029"	"00000096"	"50"	"619"	"0"	"619"	"0"	"c.619A>G"	"r.(?)"	"p.(Ile207Val)"	"5"
"0000001030"	"00000096"	"50"	"619"	"0"	"619"	"0"	"c.619A>G"	"r.(?)"	"p.(Ile207Val)"	"5"
"0000001031"	"00000096"	"50"	"619"	"0"	"619"	"0"	"c.619A>G"	"r.(?)"	"p.(Ile207Val)"	"5"
"0000001032"	"00000096"	"50"	"619"	"0"	"619"	"0"	"c.619A>G"	"r.(?)"	"p.(Ile207Val)"	"5"
"0000001033"	"00000096"	"50"	"619"	"0"	"619"	"0"	"c.619A>G"	"r.(?)"	"p.(Ile207Val)"	"5"
"0000001034"	"00000096"	"50"	"619"	"0"	"619"	"0"	"c.619A>G"	"r.(?)"	"p.(Ile207Val)"	"5"
"0000001035"	"00000096"	"50"	"619"	"0"	"619"	"0"	"c.619A>G"	"r.(?)"	"p.(Ile207Val)"	"5"
"0000001036"	"00000096"	"50"	"619"	"0"	"619"	"0"	"c.619A>G"	"r.(?)"	"p.(Ile207Val)"	"5"
"0000001037"	"00000096"	"50"	"619"	"0"	"619"	"0"	"c.619A>G"	"r.(?)"	"p.(Ile207Val)"	"5"
"0000001038"	"00000096"	"50"	"619"	"0"	"619"	"0"	"c.619A>G"	"r.(?)"	"p.(Ile207Val)"	"5"
"0000001039"	"00000096"	"50"	"619"	"0"	"619"	"0"	"c.619A>G"	"r.(?)"	"p.(Ile207Val)"	"5"
"0000001040"	"00000096"	"50"	"619"	"0"	"619"	"0"	"c.619A>G"	"r.(?)"	"p.(Ile207Val)"	"5"
"0000001041"	"00000096"	"50"	"619"	"0"	"619"	"0"	"c.619A>G"	"r.(?)"	"p.(Ile207Val)"	"5"
"0000001042"	"00000096"	"50"	"619"	"0"	"619"	"0"	"c.619A>G"	"r.(?)"	"p.(Ile207Val)"	"5"
"0000001043"	"00000096"	"50"	"619"	"0"	"619"	"0"	"c.619A>G"	"r.(?)"	"p.(Ile207Val)"	"5"
"0000001044"	"00000096"	"50"	"619"	"0"	"619"	"0"	"c.619A>G"	"r.(?)"	"p.(Ile207Val)"	"5"
"0000001045"	"00000096"	"50"	"619"	"0"	"619"	"0"	"c.619A>G"	"r.(?)"	"p.(Ile207Val)"	"5"
"0000001046"	"00000096"	"50"	"825"	"0"	"825"	"0"	"c.825del"	"r.(?)"	"p.(Ile275Metfs*32)"	"7"
"0000130132"	"00000096"	"90"	"1169"	"3"	"1169"	"10"	"c.1169+3_1169+10del"	"r.spl?"	"p.?"	"9i"
"0000130213"	"00000096"	"90"	"1082"	"5"	"1082"	"5"	"c.1082+5G>A"	"r.spl?"	"p.?"	"8i"
"0000222217"	"00000096"	"90"	"445"	"1"	"445"	"1"	"c.445+1G>A"	"r.spl"	"p.?"	"2i"
"0000222218"	"00000096"	"90"	"445"	"1"	"445"	"1"	"c.445+1G>A"	"r.spl"	"p.?"	"2i"
"0000222219"	"00000096"	"90"	"1290"	"0"	"1290"	"0"	"c.1290dup"	"r.(?)"	"p.(Val404Cysfs*7)"	"10"
"0000222220"	"00000096"	"90"	"796"	"0"	"796"	"0"	"c.796T>G"	"r.(?)"	"p.(Tyr266Asp)"	"7"
"0000222221"	"00000096"	"90"	"1082"	"5"	"1082"	"5"	"c.1082+5G>A"	"r.spl"	"p.?"	"8i"
"0000222222"	"00000096"	"90"	"1451"	"0"	"1451"	"0"	"c.1451G>A"	"r.(?)"	"p.(Gly484Glu)"	"12"
"0000222223"	"00000096"	"90"	"1451"	"0"	"1451"	"0"	"c.1451G>A"	"r.(?)"	"p.(Gly484Glu)"	"12"
"0000222224"	"00000096"	"90"	"1242"	"1"	"1242"	"1"	"c.1242+1G>A"	"r.spl"	"p.?"	"10i"
"0000222225"	"00000096"	"90"	"1242"	"1"	"1242"	"1"	"c.1242+1G>A"	"r.spl"	"p.?"	"10i"
"0000222226"	"00000096"	"90"	"1601"	"0"	"1601"	"0"	"c.1601G>A"	"r.(?)"	"p.Cys534Tyr)"	"13"
"0000222227"	"00000096"	"90"	"1597"	"0"	"1597"	"0"	"c.1597C>T"	"r.(?)"	"p.(Arg533Cys)"	"13"
"0000222228"	"00000096"	"90"	"445"	"1"	"445"	"1"	"c.445+1G>A"	"r.spl"	"p.?"	"2i"
"0000222229"	"00000096"	"90"	"445"	"1"	"445"	"1"	"c.445+1G>A"	"r.spl"	"p.?"	"2i"
"0000222230"	"00000096"	"90"	"445"	"1"	"445"	"1"	"c.445+1G>A"	"r.spl"	"p.?"	"2i"
"0000222231"	"00000096"	"90"	"445"	"1"	"445"	"1"	"c.445+1G>A"	"r.spl"	"p.?"	"2i"
"0000222232"	"00000096"	"90"	"1615"	"0"	"1615"	"0"	"c.1615C>T"	"r.(?)"	"p.(Arg539Cys)"	"14"
"0000222233"	"00000096"	"90"	"445"	"1"	"445"	"1"	"c.445+1G>A"	"r.spl"	"p.?"	"2i"
"0000222234"	"00000096"	"90"	"445"	"1"	"445"	"1"	"c.445+1G>A"	"r.spl"	"p.?"	"2i"
"0000222235"	"00000096"	"90"	"445"	"1"	"445"	"1"	"c.445+1G>A"	"r.spl"	"p.?"	"2i"
"0000222236"	"00000096"	"90"	"445"	"1"	"445"	"1"	"c.445+1G>A"	"r.spl"	"p.?"	"2i"
"0000222237"	"00000096"	"90"	"445"	"1"	"445"	"1"	"c.445+1G>A"	"r.spl"	"p.?"	"2i"
"0000222238"	"00000096"	"90"	"445"	"1"	"445"	"1"	"c.445+1G>A"	"r.spl"	"p.?"	"2i"
"0000222239"	"00000096"	"90"	"1082"	"5"	"1082"	"5"	"c.1082+5G>A"	"r.spl"	"p.?"	"8i"
"0000222240"	"00000096"	"90"	"445"	"1"	"445"	"1"	"c.445+1G>A"	"r.spl"	"p.?"	"2i"
"0000222241"	"00000096"	"90"	"782"	"0"	"785"	"0"	"c.782_785del"	"r.(?)"	"p.((Ser261Cysfs*12)"	"7"
"0000248788"	"00000096"	"10"	"619"	"0"	"619"	"0"	"c.619A>G"	"r.(?)"	"p.(Ile207Val)"	""
"0000255232"	"00000096"	"30"	"445"	"7"	"445"	"7"	"c.445+7A>G"	"r.(=)"	"p.(=)"	""
"0000281292"	"00000096"	"10"	"185"	"0"	"185"	"0"	"c.185="	"r.(=)"	"p.(Ser62=)"	""
"0000281293"	"00000096"	"50"	"715"	"0"	"715"	"0"	"c.715G>A"	"r.(?)"	"p.(Val239Ile)"	""
"0000289042"	"00000096"	"10"	"276"	"0"	"276"	"0"	"c.276C>T"	"r.(?)"	"p.(Thr92=)"	""
"0000289043"	"00000096"	"30"	"39"	"0"	"39"	"0"	"c.39G>A"	"r.(?)"	"p.(Met13Ile)"	""
"0000289044"	"00000096"	"50"	"715"	"0"	"715"	"0"	"c.715G>A"	"r.(?)"	"p.(Val239Ile)"	""
"0000338685"	"00000096"	"90"	"558"	"1"	"558"	"1"	"c.558+1G>C"	"r.spl?"	"p.?"	""
"0000342240"	"00000096"	"50"	"633"	"0"	"633"	"0"	"c.633A>T"	"r.(?)"	"p.(Arg211Ser)"	""
"0000342532"	"00000096"	"50"	"851"	"0"	"851"	"0"	"c.851G>A"	"r.(?)"	"p.(Arg284Gln)"	""
"0000347204"	"00000096"	"50"	"1538"	"0"	"1538"	"0"	"c.1538T>C"	"r.(?)"	"p.(Leu513Pro)"	""
"0000349829"	"00000096"	"90"	"170"	"0"	"170"	"0"	"c.170G>A"	"r.(?)"	"p.(Trp57Ter)"	""
"0000351361"	"00000096"	"90"	"902"	"-2"	"902"	"-2"	"c.902-2A>G"	"r.spl?"	"p.?"	""
"0000525997"	"00000096"	"30"	"-50449"	"0"	"-50449"	"0"	"c.-50449G>A"	"r.(?)"	"p.(=)"	""
"0000525998"	"00000096"	"30"	"-49615"	"0"	"-49615"	"0"	"c.-49615G>A"	"r.(?)"	"p.(=)"	""
"0000525999"	"00000096"	"30"	"258"	"0"	"258"	"0"	"c.258G>A"	"r.(?)"	"p.(Thr86=)"	""
"0000526001"	"00000096"	"50"	"1250"	"0"	"1250"	"0"	"c.1250C>T"	"r.(?)"	"p.(Pro417Leu)"	""
"0000526002"	"00000096"	"90"	"1250"	"0"	"1250"	"0"	"c.1250C>T"	"r.(?)"	"p.(Pro417Leu)"	""
"0000526003"	"00000096"	"30"	"1416"	"0"	"1416"	"0"	"c.1416C>T"	"r.(?)"	"p.(Gly472=)"	""
"0000526004"	"00000096"	"30"	"1515"	"0"	"1515"	"0"	"c.1515G>A"	"r.(?)"	"p.(Arg505=)"	""
"0000526005"	"00000096"	"30"	"1627"	"0"	"1627"	"0"	"c.1627G>A"	"r.(?)"	"p.(Ala543Thr)"	""
"0000526007"	"00000096"	"30"	"31166"	"0"	"31166"	"0"	"c.*29495A>G"	"r.(=)"	"p.(=)"	""
"0000526008"	"00000096"	"90"	"31945"	"0"	"31945"	"0"	"c.*30274G>A"	"r.(=)"	"p.(=)"	""
"0000609788"	"00000096"	"30"	"189"	"0"	"189"	"0"	"c.189G>A"	"r.(?)"	"p.(Val63=)"	""
"0000609789"	"00000096"	"50"	"715"	"0"	"715"	"0"	"c.715G>A"	"r.(?)"	"p.(Val239Ile)"	""
"0000651756"	"00000096"	"30"	"214"	"0"	"214"	"0"	"c.214C>T"	"r.(?)"	"p.(Leu72Phe)"	""
"0000651757"	"00000096"	"70"	"771"	"5"	"771"	"5"	"c.771+5G>C"	"r.spl?"	"p.?"	""
"0000651758"	"00000096"	"90"	"850"	"0"	"850"	"0"	"c.850C>T"	"r.(?)"	"p.(Arg284*)"	""
"0000651759"	"00000096"	"30"	"1627"	"0"	"1627"	"0"	"c.1627G>A"	"r.(?)"	"p.(Ala543Thr)"	""
"0000655409"	"00000096"	"30"	"1338"	"0"	"1338"	"0"	"c.1338T>A"	"r.(?)"	"p.(Ser446=)"	""
"0000669858"	"00000096"	"30"	"214"	"0"	"214"	"0"	"c.214C>T"	"r.(?)"	"p.(Leu72Phe)"	""
"0000677544"	"00000096"	"90"	"552"	"0"	"552"	"0"	"c.552T>G"	"r.(?)"	"p.(Tyr184Ter)"	""
"0000720487"	"00000096"	"30"	"383"	"0"	"383"	"0"	"c.383T>G"	"r.(?)"	"p.(Leu128Arg)"	""
"0000720488"	"00000096"	"90"	"826"	"0"	"829"	"0"	"c.826_829del"	"r.(?)"	"p.(Glu276MetfsTer30)"	""
"0000720489"	"00000096"	"90"	"1509"	"-26"	"1509"	"-26"	"c.1509-26G>A"	"r.(=)"	"p.(=)"	""
"0000720490"	"00000096"	"90"	"1550"	"0"	"1553"	"0"	"c.1550_1553dup"	"r.(?)"	"p.(Asp518GlufsTer8)"	""
"0000720491"	"00000096"	"50"	"2904"	"0"	"2904"	"0"	"c.*1233dup"	"r.(?)"	"p.(=)"	""
"0000764670"	"00000096"	"90"	"1083"	"-2"	"1083"	"-2"	"c.1083-2del"	"r.spl"	"p.?"	""
"0000802173"	"00000096"	"30"	"7"	"0"	"7"	"0"	"c.7C>T"	"r.(?)"	"p.(Leu3=)"	""
"0000802174"	"00000096"	"50"	"1525"	"0"	"1525"	"0"	"c.1525G>A"	"r.(?)"	"p.(Val509Ile)"	""
"0000802175"	"00000096"	"30"	"1625"	"0"	"1625"	"0"	"c.1625C>A"	"r.(?)"	"p.(Ala542Asp)"	""
"0000802176"	"00000096"	"30"	"1670"	"0"	"1670"	"0"	"c.1670A>G"	"r.(?)"	"p.(*557=)"	""
"0000850959"	"00000096"	"90"	"1250"	"0"	"1250"	"0"	"c.1250C>T"	"r.(?)"	"p.(Pro417Leu)"	""
"0000850960"	"00000096"	"10"	"1258"	"0"	"1258"	"0"	"c.1258A>G"	"r.(?)"	"p.(Ile420Val)"	""
"0000859995"	"00000096"	"30"	"2204"	"0"	"2204"	"0"	"c.*533T>C"	"r.(=)"	"p.(=)"	""
"0000859996"	"00000096"	"50"	"20500"	"0"	"20500"	"0"	"c.*18829C>T"	"r.(=)"	"p.(=)"	""
"0000873915"	"00000096"	"10"	"619"	"0"	"619"	"0"	"c.619A>G"	"r.(?)"	"p.(Ile207Val)"	""
"0000874674"	"00000096"	"70"	"1169"	"3"	"1169"	"10"	"c.1169+3_1169+10del"	"r.spl"	"p.?"	""
"0000912359"	"00000096"	"10"	"185"	"0"	"185"	"0"	"c.185="	"r.(=)"	"p.(Ser62=)"	""
"0000912360"	"00000096"	"10"	"362"	"0"	"362"	"0"	"c.362A>G"	"r.(?)"	"p.(Lys121Arg)"	""
"0000912361"	"00000096"	"30"	"449"	"0"	"449"	"0"	"c.449C>A"	"r.(?)"	"p.(Thr150Asn)"	""
"0000917424"	"00000096"	"90"	"1513"	"0"	"1513"	"0"	"c.1513C>T"	"r.(?)"	"p.(Arg505Trp)"	""
"0000917425"	"00000096"	"90"	""	"0"	""	"0"	"c.-117_*113{0}"	"r.0"	"p.0"	"_1_14_"
"0000929098"	"00000096"	"70"	"3281"	"0"	"3281"	"0"	"c.*1610G>A"	"r.(=)"	"p.(=)"	""
"0000948572"	"00000096"	"90"	"1509"	"-26"	"1509"	"-26"	"c.1509-26G>A"	"r.(=)"	"p.(=)"	""
"0000948573"	"00000096"	"50"	"2204"	"0"	"2204"	"0"	"c.*533T>C"	"r.(=)"	"p.(=)"	""
"0000948574"	"00000096"	"50"	"6171"	"0"	"6171"	"0"	"c.*4500T>C"	"r.(=)"	"p.(=)"	""
"0000948575"	"00000096"	"50"	"28254"	"0"	"28254"	"0"	"c.*26583C>T"	"r.(=)"	"p.(=)"	""
"0000976847"	"00000096"	"10"	"1753"	"0"	"1754"	"0"	"c.*82_*83del"	"r.(=)"	"p.(=)"	""
"0000995162"	"00000096"	"30"	"52"	"0"	"52"	"0"	"c.52C>T"	"r.(?)"	"p.(=)"	""
"0000995163"	"00000096"	"10"	"300"	"-32"	"300"	"-32"	"c.300-32C>T"	"r.(=)"	"p.(=)"	""
"0000995164"	"00000096"	"10"	"362"	"0"	"362"	"0"	"c.362A>G"	"r.(?)"	"p.(Lys121Arg)"	""
"0001007067"	"00000096"	"90"	"1509"	"-26"	"1509"	"-26"	"c.1509-26G>A"	"r.spl"	"p.?"	""
"0001007068"	"00000096"	"90"	"1578"	"0"	"1578"	"0"	"c.1578T>G"	"r.(?)"	"p.(Tyr526*)"	"13"
"0001007089"	"00000096"	"90"	"1509"	"-26"	"1509"	"-26"	"c.1509-26G>A"	"r.1508_1509ins1509-24_1509-1"	"p.Trp503_Pro504insGlyMetCysAspLeuAsnPheArg"	"12i"
"0001007095"	"00000096"	"90"	"1509"	"-26"	"1509"	"-26"	"c.1509-26G>A"	"r.1508_1509ins1509-24_1509-1"	"p.Trp503_Pro504insGlyMetCysAspLeuAsnPheArg"	"12i"
"0001007100"	"00000096"	"90"	"1509"	"-26"	"1509"	"-26"	"c.1509-26G>A"	"r.1508_1509ins1509-24_1509-1"	"p.Trp503_Pro504insGlyMetCysAspLeuAsnPheArg"	"12i"
"0001007101"	"00000096"	"90"	"1614"	"-16"	"1615"	"0"	"c.1614-16_1615dup"	"r.[1614-16_1615dup,=]"	"p.[Glu538_Arg539insLeuHisValIleTyrArg,=]"	"13i_14"
"0001012446"	"00000096"	"50"	"383"	"0"	"383"	"0"	"c.383T>G"	"r.(?)"	"p.(Leu128Arg)"	""
"0001035307"	"00000096"	"50"	"1625"	"0"	"1625"	"0"	"c.1625C>A"	"r.(?)"	"p.(Ala542Asp)"	""
"0001049746"	"00000096"	"70"	"170"	"0"	"170"	"0"	"c.170G>A"	"r.(?)"	"p.(Trp57Ter)"	""
"0001051994"	"00000096"	"50"	"1338"	"0"	"1338"	"0"	"c.1338T>A"	"r.(?)"	"p.(Ser446=)"	""
"0001051995"	"00000096"	"50"	"2167"	"0"	"2167"	"0"	"c.*496C>T"	"r.(=)"	"p.(=)"	""


## Screenings_To_Variants ## Do not remove or alter this header ##
## Count = 67
"{{screeningid}}"	"{{variantid}}"
"0000000009"	"0000001045"
"0000000014"	"0000001028"
"0000000026"	"0000001041"
"0000000027"	"0000001042"
"0000000030"	"0000001027"
"0000000036"	"0000001030"
"0000000037"	"0000001031"
"0000000038"	"0000001038"
"0000000047"	"0000001023"
"0000000056"	"0000001043"
"0000000058"	"0000001024"
"0000000061"	"0000001039"
"0000000064"	"0000001029"
"0000000066"	"0000001034"
"0000000069"	"0000001036"
"0000000069"	"0000001046"
"0000000081"	"0000001032"
"0000000085"	"0000001025"
"0000000086"	"0000001033"
"0000000088"	"0000001037"
"0000000090"	"0000001040"
"0000000095"	"0000001044"
"0000000096"	"0000001035"
"0000081046"	"0000130132"
"0000081127"	"0000130213"
"0000133028"	"0000222217"
"0000133029"	"0000222218"
"0000133029"	"0000222221"
"0000133030"	"0000222228"
"0000133031"	"0000222229"
"0000133032"	"0000222230"
"0000133033"	"0000222219"
"0000133033"	"0000222231"
"0000133034"	"0000222220"
"0000133034"	"0000222232"
"0000133035"	"0000222233"
"0000133036"	"0000222234"
"0000133037"	"0000222222"
"0000133037"	"0000222235"
"0000133038"	"0000222223"
"0000133038"	"0000222236"
"0000133039"	"0000222224"
"0000133039"	"0000222237"
"0000133040"	"0000222225"
"0000133040"	"0000222238"
"0000133041"	"0000222226"
"0000133041"	"0000222239"
"0000133042"	"0000222227"
"0000133042"	"0000222240"
"0000295067"	"0000651756"
"0000295068"	"0000651757"
"0000295069"	"0000651758"
"0000295070"	"0000651759"
"0000306170"	"0000669858"
"0000363959"	"0000764670"
"0000415986"	"0000873915"
"0000416546"	"0000874674"
"0000432089"	"0000917424"
"0000432089"	"0000917425"
"0000455080"	"0001007067"
"0000455080"	"0001007068"
"0000455090"	"0001007089"
"0000455095"	"0001007095"
"0000455097"	"0001007100"
"0000455098"	"0001007101"
"0000457867"	"0001012446"
"0000469448"	"0001049746"