### LOVD-version 3000-30b ### Full data download ### To import, do not remove or alter this header ###
## Filter: (gene_public = SEPN1)
# 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}}"
"SEPN1"	"selenoprotein N, 1"	"1"	"p36.13"	"unknown"	"NC_000001.10"	"UD_132084473769"	""	"https://www.LOVD.nl/SELENON"	""	"1"	"15999"	"57190"	"606210"	"1"	"1"	"1"	"1"	"<font color=#FF0000>NOTE: gene symbol was recently changed from SEPN1 to SELENON</font>.\r\nAlias SEPN1, MDRS1, RSMD1.\r\nThis database is one of the gene variant databases from the <b><a href=\"http://www.DMD.nl\" target=\"_blank\">\"Leiden Muscular Dystrophy pages\" (LMDp)</a></b>."	""	"g"	"https://databases.lovd.nl/shared/refseq/SEPN1_codingDNA.html"	"1"	""	"<font color=#FF0000>NOTE: gene symbol was recently changed from SEPN1 to SELENON</font>.\r\n<font color=\"#FF0000\">This database is one of the gene variant databases from the <b><a href=\"http://www.DMD.nl\" target=\"_blank\">\"Leiden Muscular Dystrophy pages\" (LMDp)</a></b></font>."	"-1"	""	"-1"	"00001"	"2008-09-18 00:00:00"	"00006"	"2020-11-11 13:25:07"	"00000"	"2025-05-05 21:14:00"


## 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}}"
"00018666"	"SEPN1"	"transcript variant 1"	"001"	"NM_020451.2"	""	"NP_065184.2"	""	""	""	"-55"	"4277"	"1773"	"26126667"	"26144713"	""	"0000-00-00 00:00:00"	""	""


## Diseases ## Do not remove or alter this header ##
## Count = 9
"{{id}}"	"{{symbol}}"	"{{name}}"	"{{inheritance}}"	"{{id_omim}}"	"{{tissues}}"	"{{features}}"	"{{remarks}}"	"{{created_by}}"	"{{created_date}}"	"{{edited_by}}"	"{{edited_date}}"
"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"
"00360"	"MDC"	"dystrophy, muscular, congenital (MDC)"	""	""	""	""	""	"00006"	"2014-03-21 23:02:36"	"00006"	"2018-07-03 16:30:02"
"01959"	"CMYO4A;CFTD"	"myopathy, congenital, type 4A"	"AD"	"255310"	""	""	""	"00006"	"2014-09-25 23:29:40"	"00006"	"2025-02-07 14:49:08"
"02439"	"RSMD"	"dystrophy, muscular, rigid spine (RSMD)"	""	""	""	""	""	"00006"	"2014-09-25 23:29:40"	"00006"	"2019-01-23 21:52:45"
"05121"	"MD"	"dystrophy, muscular (MD)"	""	""	""	""	""	"00006"	"2016-01-24 01:27:29"	""	""
"05126"	"LGMD"	"dystrophy, muscular, limb-girdle (LGMD)"	""	""	""	""	""	"00006"	"2016-01-26 06:05:36"	""	""
"05554"	"CMYO3;RSMD1"	"myopathy, congenital, type 3, with rigid spine"	"AR"	"602771"	""	"autosomal recessive"	""	"00006"	"2019-01-23 21:55:00"	"00006"	"2025-02-07 14:45:15"
"05618"	"NMD"	"neuromuscular disorder (NMD)"	""	""	""	""	""	"00006"	"2019-07-02 19:46:12"	""	""


## Genes_To_Diseases ## Do not remove or alter this header ##
## Count = 2
"{{geneid}}"	"{{diseaseid}}"
"SEPN1"	"02439"
"SEPN1"	"05554"


## Individuals ## Do not remove or alter this header ##
## Count = 348
"{{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}}"
"00037014"	""	""	""	"1"	""	"01164"	""	""	""	""	"Germany"	""	"0"	""	""	""	""
"00037015"	""	""	""	"1"	""	"01164"	""	""	""	""	"Germany"	""	"0"	""	""	""	""
"00037016"	""	""	""	"1"	""	"01164"	""	""	""	""	"Germany"	""	"0"	""	""	""	""
"00037017"	""	""	""	"1"	""	"01164"	""	""	""	""	"Germany"	""	"0"	""	""	""	""
"00037018"	""	""	""	"1"	""	"01164"	""	""	""	""	"Germany"	""	"0"	""	""	""	""
"00037019"	""	""	""	"1"	""	"01164"	""	""	""	""	"Germany"	""	"0"	""	""	""	""
"00037020"	""	""	""	"1"	""	"01164"	""	""	""	""	"Germany"	""	"0"	""	""	""	""
"00037021"	""	""	""	"1"	""	"01164"	""	""	""	""	"Germany"	""	"0"	""	""	""	""
"00037022"	""	""	""	"1"	""	"01164"	""	""	""	""	"Germany"	""	"0"	""	""	""	""
"00054671"	""	""	""	"1"	""	"01399"	"{PMID:O\'Grady 2016:27159402}"	"2-generation family, unaffected heterozygous carrier parents"	"M"	""	"Australia"	">22y"	"0"	""	""	""	""
"00104269"	""	""	""	"1"	""	"00006"	"{PMID:Zirn 2008:18348272}"	""	"F"	""	"Turkey"	">7y"	"0"	""	""	""	"18348272.1"
"00104270"	""	""	""	"3"	""	"00006"	""	""	"M;F"	""	"Turkey"	""	"0"	""	""	""	"?"
"00104271"	""	""	""	"1"	""	"00006"	"{PMID:Okamoto 2006:16779558}"	"first cousin parents"	"M"	""	"Japan"	">41y"	"0"	""	""	""	"Pat1"
"00104272"	""	""	""	"3"	""	"00006"	"{PMID:Moghadaszadeh 2001:11528383}"	""	"?"	""	"Morocco"	""	"0"	""	""	""	"Fam1809"
"00104273"	""	""	""	"1"	""	"00006"	"{PMID:Moghadaszadeh 2001:11528383}"	""	"?"	""	"Algeria"	""	"0"	""	""	""	"Fam13369"
"00104274"	""	""	""	"2"	""	"00006"	"{PMID:Moghadaszadeh 2001:11528383}"	""	"?"	""	"Iran"	""	"0"	""	""	""	"Fam12566"
"00104275"	""	""	""	"1"	""	"00006"	"{PMID:Moghadaszadeh 2001:11528383}"	""	"?"	""	"Iran"	""	"0"	""	""	""	"FamE1"
"00104276"	""	""	""	"1"	""	"00006"	"{PMID:Moghadaszadeh 2001:11528383}"	""	"?"	""	"Turkey"	""	"0"	""	""	""	"FamE13"
"00104277"	""	""	""	"1"	""	"00006"	"{PMID:D\'Amico 2005:15961312}"	"parents first cousins"	"F"	""	"Turkey"	""	"0"	""	""	""	"?"
"00104278"	""	""	""	"1"	""	"00006"	"{PMID:Allamand 2006:16498447}"	""	"?"	""	"France"	""	"0"	""	""	""	"?"
"00104279"	""	""	""	"1"	""	"00006"	"{PMID:Moghadaszadeh 2001:11528383}"	""	"?"	""	"Turkey"	""	"0"	""	""	""	"FamT21"
"00104280"	""	""	""	"1"	""	"00006"	"{PMID:Moghadaszadeh 2001:11528383}"	""	"?"	""	"Turkey"	""	"0"	""	""	""	"FamT2"
"00104281"	""	""	""	"1"	""	"00006"	"{PMID:Tajsharghi 2005:15792869}"	""	"M"	"no"	"Sweden"	""	"0"	""	""	""	"?"
"00104282"	""	""	""	"2"	""	"00006"	"{PMID:Moghadaszadeh 2001:11528383}"	""	"?"	""	"Italy"	""	"0"	""	""	""	"FamE8"
"00104283"	""	""	""	"1"	""	"00006"	"{PMID:Moghadaszadeh 2001:11528383}"	""	"?"	""	"France"	""	"0"	""	""	""	"Fam14961"
"00104284"	""	""	""	"1"	""	"00006"	"{PMID:Moghadaszadeh 2001:11528383}, {PMID:Allamand 2006:16498447}"	""	"?"	""	"Turkey"	""	"0"	""	""	""	"FamT17"
"00104285"	""	""	""	"2"	""	"00006"	"{PMID:Clarke 2006:16365872}, {PMID:O\'Grady 2016:27159402}"	"2-generation family, 2 affected sisters, , unaffected heterozygous carrier parents"	"F"	""	"Australia"	""	"0"	""	""	""	"FamPatA1/Pat1"
"00104286"	""	""	""	"1"	""	"00006"	"{PMID:Clarke 2006:16365872}"	"sister of 16365872.B4,B5"	"F"	""	"Australia"	""	"0"	""	""	""	"16365872.B3"
"00104287"	""	""	"00104285"	"1"	""	"00006"	"{PMID:Clarke 2006:16365872}"	"sister FamPatA1"	"F"	""	"Australia"	""	"0"	""	""	""	"FamPatA2"
"00104288"	""	""	""	"1"	""	"00006"	"{PMID:Clarke 2006:16365872}"	"sister of 16365872.B3,B5"	"F"	""	"Australia"	""	"0"	""	""	""	"16365872.B4"
"00104289"	""	""	""	"1"	""	"00006"	"{PMID:Clarke 2006:16365872}"	"sister of 16365872.B3,B4"	"F"	""	"Australia"	""	"0"	""	""	""	"16365872.B5"
"00104290"	""	""	""	"1"	""	"00006"	"{PMID:Clarke 2006:16365872}"	""	"M"	""	"Australia"	""	"0"	""	""	""	"16365872.C6"
"00104291"	""	""	""	"1"	""	"00006"	"{PMID:Clarke 2006:16365872}"	""	"M"	""	"Australia"	""	"0"	""	""	""	"16365872.D7"
"00104292"	""	""	""	"1"	""	"00006"	"{PMID:Clarke 2006:16365872}"	""	"F"	""	"Australia"	""	"0"	""	""	""	"16365872.E8"
"00104293"	""	""	""	"4"	""	"00006"	"{PMID:Allamand 2006:16498447}"	"parents distant relatives; 3 affected sisters"	"F"	""	"Syria"	">45y"	"0"	""	""	""	"?"
"00104294"	""	""	""	"1"	""	"00006"	"{PMID:Okamoto 2006:16779558}"	""	"F"	"no"	"Japan"	">31y"	"0"	""	""	""	"Pat2"
"00104295"	""	""	""	"1"	""	"00006"	"{PMID:Ferreiro 2002:12192640}"	""	"M"	""	"Germany"	""	"0"	""	""	""	"F1"
"00104296"	""	""	""	"2"	""	"00006"	"{PMID:Ferreiro 2002:12192640}"	"2-genertion family, 2 affected sisters"	"M"	"?"	"Italy"	""	"0"	""	""	""	"F2a"
"00104297"	""	""	"00104296"	"1"	""	"00006"	"{PMID:Ferreiro 2002:12192640}"	"sister F2a"	"F"	"?"	"Italy"	""	"0"	""	""	""	"F2b"
"00104298"	""	""	""	"1"	""	"00006"	"{PMID:Ferreiro 2002:12192640}"	""	"M"	"?"	"Belgium"	""	"0"	""	""	""	"F3"
"00104299"	""	""	""	"1"	""	"00006"	"{PMID:Ferreiro 2002:12192640}"	""	"M"	"?"	"Germany"	""	"0"	""	""	""	"F4"
"00104300"	""	""	""	"2"	""	"00006"	"{PMID:Ferreiro 2004:15122708}"	"2-generation family, 2 affected (2M)"	"M"	""	"Belgium"	""	"0"	""	""	""	"FamI"
"00104301"	""	""	""	"1"	""	"00006"	"{PMID:Ferreiro 2002:12192640}"	""	"F"	""	"France"	""	"0"	""	""	""	"F5"
"00104302"	""	""	""	"4"	""	"00006"	"{PMID:Ferreiro 2004:15122708}"	"11-generation family, 4 affected (2F, 2M), distant relatives, genetic isolate"	"F;M"	"yes"	"Germany"	""	"0"	""	""	""	"FamII"
"00104303"	""	""	""	"1"	""	"00006"	"{PMID:Ferreiro 2002:12192640}"	""	"M"	"?"	"France"	""	"0"	""	""	""	"F6"
"00104304"	""	""	""	"2"	""	"00006"	"{PMID:Ferreiro 2002:12192640}"	"2-generation family, 2 affected brothers"	"M"	""	"Belgium"	""	"0"	""	""	""	"F7a"
"00104305"	""	""	"00104304"	"1"	""	"00006"	"{PMID:Ferreiro 2002:12192640}"	"brother of F7a"	"M"	"?"	"Belgium"	""	"0"	""	""	""	"F7b"
"00104306"	""	""	""	"2"	""	"00006"	"{PMID:Ferreiro 2002:12192640}"	"2-generation family, affected sister/brother"	"F"	"?"	"United Kingdom (Great Britain)"	""	"0"	""	""	""	"F8a"
"00104307"	""	""	"00104306"	"1"	""	"00006"	"{PMID:Ferreiro 2002:12192640}"	"brother of F8a"	"M"	"?"	"United Kingdom (Great Britain)"	""	"0"	""	""	""	"F8b"
"00104308"	""	""	""	"1"	""	"00006"	"{PMID:Ferreiro 2002:12192640}"	""	"F"	"?"	"Germany"	""	"0"	""	""	""	"F9"
"00104309"	""	""	""	"2"	""	"00006"	"{PMID:Ferreiro 2002:12192640}"	"2-generation family, affected sister/brother"	"F"	""	"France"	""	"0"	""	""	""	"F10a"
"00104310"	""	""	"00104309"	"1"	""	"00006"	"{PMID:Ferreiro 2002:12192640}"	"brother of F10a"	"M"	""	"France"	""	"0"	""	""	""	"F10b"
"00104311"	""	""	""	"2"	""	"00006"	"{PMID:Ferreiro 2002:12192640}"	"2-genertion family, 2 affected sisters"	"F"	"?"	"Portugal"	""	"0"	""	""	""	"F11a"
"00104312"	""	""	"00104311"	"1"	""	"00006"	"{PMID:Ferreiro 2002:12192640}"	"sister of F11a"	"F"	"?"	"Portugal"	""	"0"	""	""	""	"F11b"
"00104313"	""	""	""	"1"	""	"00006"	"{PMID:Ferreiro 2002:12192640}"	""	"M"	""	"France"	""	"0"	""	""	""	"F12"
"00104314"	""	""	""	"1"	""	"00006"	"{PMID:Venance 2005:15668457}"	""	"M"	"no"	"Canada"	""	"0"	""	""	""	"?"
"00104315"	""	""	""	"1"	""	"00006"	"{PMID:Okamoto 2006:16779558}"	""	"?"	""	"Japan"	""	"0"	""	""	""	"?"
"00104316"	""	""	""	"1"	""	"00006"	"{PMID:Okamoto 2006:16779558}"	""	"?"	""	"Japan"	""	"0"	""	""	""	"?"
"00104317"	""	""	""	"279"	""	"00006"	"{PMID:Allamand 2006:16498447}"	""	"?"	""	"France"	""	"0"	""	""	""	"?"
"00104318"	""	""	""	"10"	""	"00006"	"{PMID:Allamand 2006:16498447}"	""	"?"	""	"France"	""	"0"	""	""	""	"?"
"00104319"	""	""	""	"262"	""	"00006"	"{PMID:Ferreiro 2004:15122708}"	""	"?"	""	"France"	""	"0"	""	""	""	"?"
"00104320"	""	""	""	"262"	""	"00006"	"{PMID:Allamand 2006:16498447}"	""	"?"	""	"France"	""	"0"	""	""	""	"?"
"00104321"	""	""	""	"1"	""	"00006"	"{PMID:Tajsharghi 2005:15792869}"	""	"?"	""	"Sweden"	""	"0"	""	""	""	"?"
"00104322"	""	""	""	"16"	""	"00006"	"{PMID:Tajsharghi 2005:15792869}"	""	"?"	""	"Sweden"	""	"0"	""	""	""	"?"
"00104323"	""	""	""	"19"	""	"00006"	"{PMID:Tajsharghi 2005:15792869}"	""	"?"	""	"Sweden"	""	"0"	""	""	""	"?"
"00104324"	""	""	""	"1"	""	"00464"	""	""	"F"	""	"United States"	""	"0"	""	""	"African American"	"?"
"00104325"	""	""	""	"1"	""	"00464"	"Ferreiro AJHG 71:739-749, 2002"	""	"F"	""	"United States"	""	"0"	""	""	""	"?"
"00104326"	""	""	""	"1"	""	"00464"	""	""	"M"	""	"United States"	""	"0"	""	""	""	"?"
"00104327"	""	""	""	"1"	""	"00464"	""	""	"F"	""	"United States"	""	"0"	""	""	""	"?"
"00104328"	""	""	""	"1"	""	"00464"	""	""	"F"	""	"(United States)"	""	"0"	""	""	"Arab"	"?"
"00104329"	""	""	""	"1"	""	"00464"	""	""	"F"	""	"United States"	""	"0"	""	""	""	"?"
"00104330"	""	""	""	"1"	""	"00464"	""	""	"F"	""	"United States"	""	"0"	""	""	""	"?"
"00104331"	""	""	""	"1"	""	"00464"	""	""	""	""	"United States"	""	"0"	""	""	""	"?"
"00104332"	""	""	""	"1"	""	"00464"	""	""	""	""	"United States"	""	"0"	""	""	""	"?"
"00104333"	""	""	""	"1"	""	"00464"	""	""	"M"	""	"United States"	""	"0"	""	""	""	"?"
"00104334"	""	""	""	"1"	""	"00464"	""	""	"M"	""	"United States"	""	"0"	""	""	""	"?"
"00104335"	""	""	""	"1"	""	"00464"	""	""	"M"	""	"United States"	""	"0"	""	""	""	"?"
"00104336"	""	""	""	"1"	""	"00402"	""	""	"F"	""	"Saudi Arabia"	""	"0"	""	""	""	"?"
"00104337"	""	""	""	"1"	""	"00402"	""	""	"M"	""	"United Kingdom (Great Britain)"	""	"0"	""	""	""	"?"
"00104338"	""	""	""	"1"	""	"00402"	""	""	"F"	""	"Switzerland"	""	"0"	""	""	""	"?"
"00104339"	""	""	""	"1"	""	"00402"	""	""	"F"	""	"United Kingdom (Great Britain)"	""	"0"	""	""	""	"?"
"00104340"	""	""	""	"1"	""	"00402"	""	""	"F"	""	"United Kingdom (Great Britain)"	""	"0"	""	""	""	"?"
"00104341"	""	""	""	"1"	""	"00402"	""	""	"M"	""	"United Kingdom (Great Britain)"	""	"0"	""	""	""	"?"
"00104342"	""	""	""	"1"	""	"00402"	""	""	"F"	""	"Spain"	""	"0"	""	""	""	"?"
"00104343"	""	""	""	"1"	""	"00402"	""	""	"M"	""	"United Kingdom (Great Britain)"	""	"0"	""	""	""	"?"
"00104344"	""	""	""	"1"	""	"00402"	""	""	"M"	""	"Belgium"	""	"0"	""	""	""	"?"
"00104345"	""	""	""	"1"	""	"00464"	""	""	"M"	""	"United States"	""	"0"	""	""	""	"?"
"00104346"	""	""	""	"1"	""	"00464"	""	""	"F"	""	"(United States)"	""	"0"	""	""	""	"?"
"00104347"	""	""	""	"1"	""	"00464"	""	""	"M"	""	"(United States)"	""	"0"	""	""	""	"?"
"00104348"	""	""	""	"1"	""	"00006"	"{PMID:Maiti 2009:19067361}"	""	"?"	""	""	""	"0"	""	""	""	"?"
"00104349"	""	""	""	"1"	""	"00006"	"{PMID:Maiti 2009:19067361}"	""	"?"	""	""	""	"0"	""	""	""	"?"
"00104350"	""	""	""	"1"	""	"00006"	"{PMID:Maiti 2009:19067361}"	""	"?"	""	""	""	"0"	""	""	""	"?"
"00104351"	""	""	""	"1"	""	"00006"	"{PMID:Maiti 2009:19067361}"	"sister died of similar symptoms"	"F"	""	""	"5y6m"	"0"	""	""	""	"?"
"00104352"	""	""	""	"5"	""	"00006"	"{PMID:Maiti 2009:19067361}"	""	"?"	""	""	""	"0"	""	""	""	"?"
"00104353"	""	""	""	"1"	""	"00006"	"{PMID:Maiti 2009:19067361}"	""	"?"	""	""	""	"0"	""	""	""	"?"
"00104354"	""	""	""	"1"	""	"00006"	"{PMID:Maiti 2009:19067361}"	""	"?"	""	""	""	"0"	""	""	""	"?"
"00104355"	""	""	""	"1"	""	"00006"	"{PMID:Maiti 2009:19067361}"	""	"?"	""	""	""	"0"	""	""	""	"?"
"00104356"	""	""	""	"2"	""	"00006"	"{PMID:Schara 2008:17951086}"	"2-generation family, 2 affected sibs"	"M"	""	"Germany"	""	"0"	""	""	""	"Pat1"
"00104357"	""	""	"00104356"	"1"	""	"00006"	"{PMID:Schara 2008:17951086}"	"sibling of Pat1"	"F"	""	"Germany"	""	"0"	""	""	""	"Pat2"
"00104358"	""	""	""	"2"	""	"00006"	"{PMID:Schara 2008:17951086}"	"2-generation family, 2 affected sibs"	"F"	""	"Germany"	""	"0"	""	""	""	"Pat3"
"00104359"	""	""	"00104358"	"1"	""	"00006"	"{PMID:Schara 2008:17951086}"	"sibling of Pat3"	"F"	""	"Germany"	""	"0"	""	""	""	"Pat4"
"00104360"	""	""	""	"1"	""	"00006"	"{PMID:Schara 2008:17951086}"	""	"M"	""	"Germany"	""	"0"	""	""	""	"Pat5"
"00104361"	""	""	""	"1"	""	"00006"	"{PMID:Schara 2008:17951086}"	""	"F"	""	"Germany"	""	"0"	""	""	""	"Pat6"
"00104362"	""	""	""	"1"	""	"00006"	"{PMID:Schara 2008:17951086}"	""	"F"	""	"Germany"	""	"0"	""	""	""	"Pat7"
"00104363"	""	""	""	"1"	""	"00006"	"{PMID:Sponholz 2006:16900928}, {PMID:Schara 2008:17951086}"	""	"M"	""	"Germany"	""	"0"	""	""	""	"?/Pat8"
"00104364"	""	""	""	"2"	""	"00006"	"{PMID:Schara 2008:17951086}"	"2-generation family, 2 affected sibs"	"F"	"yes"	"Turkey"	""	"0"	""	""	""	"Pat9"
"00104365"	""	""	"00104364"	"1"	""	"00006"	"{PMID:Schara 2008:17951086}"	"sibling of Pat9"	"F"	"yes"	"Turkey"	""	"0"	""	""	""	"Pat10"
"00104366"	""	""	""	"1"	""	"00006"	"{PMID:Schara 2008:17951086}"	""	"F"	"yes"	"Turkey"	""	"0"	""	""	""	"Pat11"
"00104367"	""	""	""	"1"	""	"00464"	""	""	"F"	""	"(United States)"	""	"0"	""	""	""	"?"
"00104368"	""	""	""	"1"	""	"00464"	""	""	"M"	""	"(United States)"	""	"0"	""	""	"Eastern Europe"	"?"
"00104369"	""	""	""	"1"	""	"00464"	""	""	"F"	""	"(United States)"	""	"0"	""	""	""	"?"
"00104370"	""	""	""	"1"	""	"00464"	""	""	""	""	"Sri Lanka"	""	"0"	""	""	""	"?"
"00104371"	""	""	""	"1"	""	"00464"	""	""	"F"	""	"(United States)"	""	"0"	""	""	"Hispanic"	"?"
"00104372"	""	""	""	"1"	""	"00464"	""	""	""	""	"United States"	""	"0"	""	""	""	"?"
"00104373"	""	""	""	"1"	""	"00464"	""	""	""	""	"(United States)"	""	"0"	""	""	""	"?"
"00104374"	""	""	""	"1"	""	"00464"	""	""	""	""	"United States"	""	"0"	""	""	""	"?"
"00104375"	""	""	""	"1"	""	"00464"	""	""	""	""	"United States"	""	"0"	""	""	""	"?"
"00104376"	""	""	""	"1"	""	"00490"	""	""	"M"	""	"Germany"	""	"0"	""	""	"German"	"?"
"00104377"	""	""	""	"1"	""	"03730"	""	"consanguineous parents with 1 affected and 1 unaffected child"	"M"	"yes"	"Azerbaijan"	""	"0"	""	""	""	""
"00104378"	""	""	""	"1"	""	"00464"	""	""	"F"	""	"(United States)"	""	"0"	""	""	"Asian"	"?"
"00104379"	""	""	""	"1"	""	"00490"	""	""	"M"	""	"Germany"	""	"0"	""	""	""	"?"
"00104380"	""	""	""	"1"	""	"00421"	""	""	"F"	""	""	""	"0"	""	""	""	"?"
"00104381"	""	""	""	"1"	""	"00421"	""	""	"F"	""	""	""	"0"	""	""	""	"?"
"00104382"	""	""	""	"1"	""	"00421"	""	""	"M"	""	""	""	"0"	""	""	""	"?"
"00104383"	""	""	""	"1"	""	"00421"	""	""	"M"	""	""	""	"0"	""	""	""	"?"
"00104384"	""	""	""	"1"	""	"00421"	""	""	"F"	""	""	""	"0"	""	""	""	"?"
"00104385"	""	""	""	"1"	""	"00421"	""	""	"F"	""	""	""	"0"	""	""	""	"?"
"00104386"	""	""	""	"1"	""	"00421"	""	""	"M"	""	""	""	"0"	""	""	""	"?"
"00104387"	""	""	""	"1"	""	"00421"	""	""	"F"	""	""	""	"0"	""	""	""	"?"
"00104388"	""	""	""	"1"	""	"00421"	""	""	"M"	""	""	""	"0"	""	""	""	"?"
"00104389"	""	""	""	"1"	""	"00421"	""	""	"M"	""	""	""	"0"	""	""	""	"?"
"00104390"	""	""	""	"1"	""	"00421"	""	""	"F"	""	""	""	"0"	""	""	""	"?"
"00104391"	""	""	""	"1"	""	"00421"	""	""	"M"	""	""	""	"0"	""	""	""	"?"
"00104392"	""	""	""	"1"	""	"00421"	""	""	"F"	""	""	""	"0"	""	""	""	"?"
"00104393"	""	""	""	"1"	""	"00421"	""	""	"M"	""	""	""	"0"	""	""	""	"?"
"00104394"	""	""	""	"1"	""	"00421"	""	""	"F"	""	""	""	"0"	""	""	""	"?"
"00104395"	""	""	""	"1"	""	"00421"	""	""	"F"	""	""	""	"0"	""	""	""	"?"
"00104396"	""	""	""	"1"	""	"00421"	""	""	"F"	""	""	""	"0"	""	""	""	"?"
"00104397"	""	""	""	"1"	""	"00421"	""	""	"M"	""	""	""	"0"	""	""	""	"?"
"00104398"	""	""	""	"1"	""	"00421"	""	""	"M"	""	""	""	"0"	""	""	""	"?"
"00104399"	""	""	""	"1"	""	"00421"	""	""	"F"	""	""	""	"0"	""	""	""	"?"
"00104400"	""	""	""	"1"	""	"00421"	""	""	"F"	""	""	""	"0"	""	""	""	"?"
"00104401"	""	""	""	"1"	""	"00421"	""	""	"M"	""	""	""	"0"	""	""	""	"?"
"00104402"	""	""	""	"1"	""	"00421"	""	""	"M"	""	""	""	"0"	""	""	""	"?"
"00104403"	""	""	""	"1"	""	"00421"	""	""	"M"	""	""	""	"0"	""	""	""	"?"
"00104404"	""	""	""	"1"	""	"00421"	""	""	"F"	""	""	""	"0"	""	""	""	"?"
"00104405"	""	""	""	"1"	""	"00421"	""	""	"F"	""	""	""	"0"	""	""	""	"?"
"00104406"	""	""	""	"1"	""	"00421"	""	""	"M"	""	""	""	"0"	""	""	""	"?"
"00104407"	""	""	""	"1"	""	"00421"	""	""	"M"	""	""	""	"0"	""	""	""	"?"
"00104408"	""	""	""	"1"	""	"00421"	""	""	"M"	""	""	""	"0"	""	""	""	"?"
"00104409"	""	""	""	"1"	""	"00421"	""	""	"F"	""	""	""	"0"	""	""	""	"?"
"00104410"	""	""	""	"1"	""	"00421"	""	""	"F"	""	""	""	"0"	""	""	""	"?"
"00104411"	""	""	""	"1"	""	"00490"	""	""	"M"	""	"Germany"	""	"0"	""	""	""	"?"
"00104412"	""	""	""	"1"	""	"00464"	""	""	"F"	""	"United States"	""	"0"	""	""	"Arab"	"?"
"00104413"	""	""	""	"1"	""	"00464"	""	""	"F"	""	"United States"	""	"0"	""	""	""	"?"
"00104414"	""	""	""	"1"	""	"00464"	""	""	"M"	""	"United States"	""	"0"	""	""	""	"?"
"00104415"	""	""	""	"1"	""	"00402"	""	""	"F"	""	"United Kingdom (Great Britain)"	""	"0"	""	""	""	"?"
"00104416"	""	""	""	"1"	""	"00402"	""	""	"M"	""	"United Kingdom (Great Britain)"	""	"0"	""	""	""	"?"
"00104417"	""	""	""	"1"	""	"00402"	""	""	"M"	""	"United Kingdom (Great Britain)"	""	"0"	""	""	""	"?"
"00104418"	""	""	""	"1"	""	"00402"	""	""	"F"	""	"United Kingdom (Great Britain)"	""	"0"	""	""	""	"?"
"00104419"	""	""	""	"1"	""	"00402"	""	""	"?"	""	"United Kingdom (Great Britain)"	""	"0"	""	""	""	"?"
"00104420"	""	""	""	"1"	""	"00402"	""	""	"F"	""	"United Kingdom (Great Britain)"	""	"0"	""	""	""	"?"
"00104421"	""	""	""	"1"	""	"00402"	""	""	"M"	""	"United Kingdom (Great Britain)"	""	"0"	""	""	""	"?"
"00104422"	""	""	""	"1"	""	"00402"	""	""	"F"	""	"United Kingdom (Great Britain)"	""	"0"	""	""	""	"?"
"00104423"	""	""	""	"1"	""	"00402"	""	""	"M"	""	"Netherlands"	""	"0"	""	""	""	"?"
"00104424"	""	""	""	"1"	""	"00402"	""	""	"M"	""	"United Kingdom (Great Britain)"	""	"0"	""	""	""	"?"
"00104425"	""	""	""	"1"	""	"00402"	""	""	"F"	""	"United Kingdom (Great Britain)"	""	"0"	""	""	""	"?"
"00104426"	""	""	""	"1"	""	"00402"	""	""	"M"	""	"United Kingdom (Great Britain)"	""	"0"	""	""	""	"?"
"00104427"	""	""	""	"1"	""	"00402"	""	""	"M"	""	"United Kingdom (Great Britain)"	""	"0"	""	""	""	"?"
"00104428"	""	""	""	"1"	""	"00402"	""	""	"F"	""	"United Kingdom (Great Britain)"	""	"0"	""	""	""	"?"
"00104429"	""	""	""	"1"	""	"00402"	""	""	"F"	""	"United Kingdom (Great Britain)"	""	"0"	""	""	""	"?"
"00104430"	""	""	""	"1"	""	"00402"	""	""	"F"	""	"United Kingdom (Great Britain)"	""	"0"	""	""	""	"?"
"00104431"	""	""	""	"1"	""	"00402"	""	""	"M"	""	"United Kingdom (Great Britain)"	""	"0"	""	""	""	"?"
"00104432"	""	""	""	"1"	""	"00402"	""	""	"M"	""	"United Kingdom (Great Britain)"	""	"0"	""	""	""	"?"
"00104433"	""	""	""	"1"	""	"00402"	""	""	"F"	""	"United Kingdom (Great Britain)"	""	"0"	""	""	""	"?"
"00104434"	""	""	""	"1"	""	"00402"	""	""	"M"	""	"United Kingdom (Great Britain)"	""	"0"	""	""	""	"?"
"00104435"	""	""	""	"1"	""	"00402"	""	""	"F"	""	"Iran"	""	"0"	""	""	""	"?"
"00104436"	""	""	""	"1"	""	"00402"	""	""	"F"	""	"United Kingdom (Great Britain)"	""	"0"	""	""	""	"?"
"00104437"	""	""	""	"1"	""	"00402"	""	""	"F"	""	"United Kingdom (Great Britain)"	""	"0"	""	""	""	"?"
"00104438"	""	""	""	"1"	""	"00402"	""	""	"F"	""	"United Kingdom (Great Britain)"	""	"0"	""	""	""	"?"
"00104439"	""	""	""	"1"	""	"00402"	""	""	"F"	""	"United Kingdom (Great Britain)"	""	"0"	""	""	""	"?"
"00104440"	""	""	""	"1"	""	"00402"	""	""	"F"	""	"United Kingdom (Great Britain)"	""	"0"	""	""	""	"?"
"00104441"	""	""	""	"1"	""	"00402"	""	""	"M"	""	"United Kingdom (Great Britain)"	""	"0"	""	""	""	"?"
"00104442"	""	""	""	"1"	""	"00402"	""	""	"F"	""	"United Kingdom (Great Britain)"	""	"0"	""	""	""	"?"
"00104443"	""	""	""	"1"	""	"00402"	""	""	"F"	""	"United Kingdom (Great Britain)"	""	"0"	""	""	""	"?"
"00104444"	""	""	""	"1"	""	"00402"	""	""	"M"	""	"United Kingdom (Great Britain)"	""	"0"	""	""	""	"?"
"00104445"	""	""	""	"1"	""	"00402"	""	""	"M"	""	"United Kingdom (Great Britain)"	""	"0"	""	""	""	"?"
"00104446"	""	""	""	"1"	""	"00402"	"Bachmann 2019, submitted"	""	"F"	""	"Denmark"	""	"0"	""	""	""	"-PatDen02"
"00104447"	""	""	""	"1"	""	"00402"	""	""	"F"	""	"Norway"	""	"0"	""	""	""	"?"
"00104448"	""	""	""	"1"	""	"00402"	""	"affected brother with same genotype"	"F"	""	"United Kingdom (Great Britain)"	""	"0"	""	""	""	"?"
"00104449"	""	""	""	"1"	""	"00402"	""	""	"M"	""	"Switzerland"	""	"0"	""	""	""	"?"
"00104450"	""	""	""	"1"	""	"00402"	""	""	"M"	""	"United Kingdom (Great Britain)"	""	"0"	""	""	""	"?"
"00104451"	""	""	""	"1"	""	"00402"	""	""	"F"	""	"United Kingdom (Great Britain)"	""	"0"	""	""	""	"?"
"00104452"	""	""	""	"1"	""	"00402"	""	""	"M"	""	"United Kingdom (Great Britain)"	""	"0"	""	""	""	"?"
"00104453"	""	""	""	"1"	""	"00402"	""	"affected brother with same genotype"	"F"	""	"United Kingdom (Great Britain)"	""	"0"	""	""	""	"?"
"00104454"	""	""	""	"1"	""	"00402"	""	""	"F"	""	"Saudi Arabia"	""	"0"	""	""	""	"?"
"00104455"	""	""	""	"1"	""	"00402"	""	""	"M"	""	"United Kingdom (Great Britain)"	""	"0"	""	""	""	"?"
"00104456"	""	""	""	"1"	""	"00402"	""	""	"M"	""	"United Kingdom (Great Britain)"	""	"0"	""	""	""	"?"
"00104457"	""	""	""	"1"	""	"00402"	""	""	"M"	""	"United Kingdom (Great Britain)"	""	"0"	""	""	""	"?"
"00104458"	""	""	""	"1"	""	"00402"	""	""	"F"	""	"Denmark"	""	"0"	""	""	""	"?"
"00104459"	""	""	""	"1"	""	"00464"	""	""	"F"	""	"United States"	""	"0"	""	""	"Arab"	"?"
"00104460"	""	""	""	"1"	""	"00464"	""	""	""	""	"Sweden"	""	"0"	""	""	""	"?"
"00104461"	""	""	""	"1"	""	"00464"	""	""	""	"?"	"United States"	""	"0"	""	""	"East Indian"	"?"
"00104462"	""	""	""	"1"	""	"00464"	""	""	""	""	"United States"	""	"0"	""	""	""	"?"
"00104463"	""	""	""	"1"	""	"00430"	"from website {DBsub-Emory}"	""	""	""	"(United States)"	""	"0"	""	""	""	"Emory-?"
"00104464"	""	""	""	"1"	""	"00430"	"from website {DBsub-Emory}"	""	""	""	"(United States)"	""	"0"	""	""	""	"Emory-?"
"00104465"	""	""	""	"1"	""	"00430"	"from website {DBsub-Emory}"	""	""	""	"(United States)"	""	"0"	""	""	""	"Emory-?"
"00104466"	""	""	""	"1"	""	"00430"	"from website {DBsub-Emory}"	""	""	""	"(United States)"	""	"0"	""	""	""	"Emory-?"
"00104467"	""	""	""	"1"	""	"00430"	"from website {DBsub-Emory}"	""	""	""	"(United States)"	""	"0"	""	""	""	"Emory-?"
"00104468"	""	""	""	"1"	""	"00430"	"from website {DBsub-Emory}"	""	""	""	"(United States)"	""	"0"	""	""	""	"Emory-?"
"00104469"	""	""	""	"1"	""	"00430"	"from website {DBsub-Emory}"	""	""	""	"(United States)"	""	"0"	""	""	""	"Emory-?"
"00104470"	""	""	""	"1"	""	"00430"	"from website {DBsub-Emory}"	""	""	""	"(United States)"	""	"0"	""	""	""	"Emory-?"
"00104471"	""	""	""	"1"	""	"00430"	"from website {DBsub-Emory}"	""	""	""	"(United States)"	""	"0"	""	""	""	"Emory-?"
"00104472"	""	""	""	"1"	""	"00430"	"from website {DBsub-Emory}"	""	""	""	"(United States)"	""	"0"	""	""	""	"Emory-?"
"00104473"	""	""	""	"1"	""	"00430"	"from website {DBsub-Emory}"	""	""	""	"(United States)"	""	"0"	""	""	""	"Emory-?"
"00104474"	""	""	""	"1"	""	"00430"	"from website {DBsub-Emory}"	""	""	""	"(United States)"	""	"0"	""	""	""	"Emory-?"
"00104475"	""	""	""	"1"	""	"00430"	"from website {DBsub-Emory}"	""	""	""	"(United States)"	""	"0"	""	""	""	"Emory-?"
"00104476"	""	""	""	"1"	""	"00430"	"from website {DBsub-Emory}"	""	""	""	"(United States)"	""	"0"	""	""	""	"Emory-?"
"00104477"	""	""	""	"1"	""	"00430"	"from website {DBsub-Emory}"	""	""	""	"(United States)"	""	"0"	""	""	""	"Emory-?"
"00104478"	""	""	""	"1"	""	"00430"	"from website {DBsub-Emory}"	""	""	""	"(United States)"	""	"0"	""	""	""	"Emory-?"
"00104479"	""	""	""	"1"	""	"00430"	"from website {DBsub-Emory}"	""	""	""	"(United States)"	""	"0"	""	""	""	"Emory-?"
"00104480"	""	""	""	"1"	""	"00430"	"from website {DBsub-Emory}"	""	""	""	"(United States)"	""	"0"	""	""	""	"Emory-?"
"00104481"	""	""	""	"1"	""	"00430"	"from website {DBsub-Emory}"	""	""	""	"(United States)"	""	"0"	""	""	""	"Emory-?"
"00104482"	""	""	""	"1"	""	"00430"	"from website {DBsub-Emory}"	""	""	""	"(United States)"	""	"0"	""	""	""	"Emory-?"
"00104483"	""	""	""	"1"	""	"00430"	"from website {DBsub-Emory}"	""	""	""	"(United States)"	""	"0"	""	""	""	"Emory-?"
"00104484"	""	""	""	"1"	""	"00430"	"from website {DBsub-Emory}"	""	""	""	"(United States)"	""	"0"	""	""	""	"Emory-?"
"00104485"	""	""	""	"1"	""	"00430"	"from website {DBsub-Emory}"	""	""	""	"(United States)"	""	"0"	""	""	""	"Emory-?"
"00104486"	""	""	""	"1"	""	"00430"	"from website {DBsub-Emory}"	""	""	""	"(United States)"	""	"0"	""	""	""	"Emory-?"
"00104487"	""	""	""	"1"	""	"00430"	"from website {DBsub-Emory}"	""	""	""	"(United States)"	""	"0"	""	""	""	"Emory-?"
"00104488"	""	""	""	"1"	""	"00464"	""	""	"F"	""	"United States"	""	"0"	""	""	""	"?"
"00104489"	""	""	""	"1"	""	"00464"	""	""	"M"	""	"United States"	""	"0"	""	""	""	"?"
"00104490"	""	""	""	"1"	""	"00464"	""	""	""	""	"El Salvador"	""	"0"	""	""	""	"?"
"00104491"	""	""	""	"1"	""	"00464"	""	""	"M"	""	"United States"	""	"0"	""	""	""	"?"
"00104492"	""	""	""	"2"	""	"01973"	""	""	"M"	"yes"	"Sri Lanka"	""	"0"	""	""	""	"0511636"
"00104493"	""	""	""	"1"	""	"00464"	""	""	"M"	""	"Iran"	""	"0"	""	""	""	"?"
"00104494"	""	""	""	"1"	""	"00464"	""	""	"F"	""	"United States"	""	"0"	""	""	""	"?"
"00183459"	""	""	""	"1"	""	"02947"	"{PMID:Giugliano 2018:30373198}"	""	"M"	""	"Italy"	""	"0"	""	""	""	"Patient XXI"
"00208547"	""	""	""	"1"	""	"01164"	""	""	"M"	""	"Germany"	""	"0"	""	""	""	""
"00208755"	""	""	""	"1"	""	"01164"	""	""	"F"	""	"Germany"	""	"0"	""	""	""	""
"00218358"	""	""	""	"1"	""	"00006"	"{PMID:Saini 2018:29850975}"	"2-generation family, 1 affected, unaffected heterozygous carrier parents"	"M"	"no"	"India"	""	"0"	""	""	""	"29850975-Pat"
"00248144"	""	""	""	"1"	""	"01164"	""	""	"F"	""	""	""	"0"	""	""	""	""
"00265665"	""	""	""	"1"	""	"00006"	"{PMID:Monies 2016:27671536}"	"759-gene panel analysis 50 patients suspected of LGMD"	""	""	"Saudi Arabia"	""	"0"	""	""	""	"Fam16 / 10R-00751"
"00274447"	""	""	""	"1"	""	"00006"	"{PMID:Park 2017:27363342}"	""	"M"	""	"Korea"	""	"0"	""	""	""	"Pat55"
"00274448"	""	""	""	"1"	""	"00006"	"{PMID:Park 2017:27363342}"	""	"F"	""	"Korea"	""	"0"	""	""	""	"Pat132"
"00288992"	""	""	""	"1"	""	"00006"	"{PMID:Punetha 2016:27854218}"	"analysis 94 myopathy cases"	""	""	""	""	"0"	""	""	""	"Pat46"
"00289299"	""	""	""	"1"	""	"01807"	""	""	"M"	""	""	""	"0"	""	""	""	""
"00289804"	""	""	""	"46"	""	"03575"	"{PMID:Narang 2020:32906206}, {DOI:Narang 2020:10.1002/humu.24102}"	"analysis 2794 individuals (India)"	""	""	"India"	""	"0"	""	""	""	""
"00289805"	""	""	""	"1"	""	"03575"	"{PMID:Narang 2020:32906206}, {DOI:Narang 2020:10.1002/humu.24102}"	"analysis 2794 individuals (India)"	""	""	"India"	""	"0"	""	""	""	""
"00289806"	""	""	""	"51"	""	"03575"	"{PMID:Narang 2020:32906206}, {DOI:Narang 2020:10.1002/humu.24102}"	"analysis 2794 individuals (India)"	""	""	"India"	""	"0"	""	""	""	""
"00289807"	""	""	""	"76"	""	"03575"	"{PMID:Narang 2020:32906206}, {DOI:Narang 2020:10.1002/humu.24102}"	"analysis 2794 individuals (India)"	""	""	"India"	""	"0"	""	""	""	""
"00289808"	""	""	""	"1"	""	"03575"	"{PMID:Narang 2020:32906206}, {DOI:Narang 2020:10.1002/humu.24102}"	"analysis 2794 individuals (India)"	""	""	"India"	""	"0"	""	""	""	""
"00289809"	""	""	""	"1"	""	"03575"	"{PMID:Narang 2020:32906206}, {DOI:Narang 2020:10.1002/humu.24102}"	"analysis 2794 individuals (India)"	""	""	"India"	""	"0"	""	""	""	""
"00289810"	""	""	""	"41"	""	"03575"	"{PMID:Narang 2020:32906206}, {DOI:Narang 2020:10.1002/humu.24102}"	"analysis 2794 individuals (India)"	""	""	"India"	""	"0"	""	""	""	""
"00304195"	""	""	""	"2"	""	"03575"	"{PMID:Narang 2020:32906206}, {DOI:Narang 2020:10.1002/humu.24102}"	"analysis 2794 individuals (India)"	""	""	"India"	""	"0"	""	""	""	""
"00314447"	""	""	""	"2"	""	"00006"	"{PMID:Topf 2020:32528171}"	"analysis 1001 patients with unexplained limb-girdle weakness"	""	""	""	""	"0"	""	""	""	""
"00314448"	""	""	""	"2"	""	"00006"	"{PMID:Topf 2020:32528171}"	"analysis 1001 patients with unexplained limb-girdle weakness"	""	""	""	""	"0"	""	""	""	""
"00314449"	""	""	""	"1"	""	"00006"	"{PMID:Topf 2020:32528171}"	"analysis 1001 patients with unexplained limb-girdle weakness"	""	""	""	""	"0"	""	""	""	""
"00319935"	""	""	""	"1"	""	"00006"	"{PMID:Villar-Quiles 2020:32796131}"	"analysis 132 patients with SEPN1-related myopathy"	""	""	""	""	"0"	""	""	""	""
"00319936"	""	""	""	"10"	""	"00006"	"{PMID:Villar-Quiles 2020:32796131}"	"analysis 132 patients with SEPN1-related myopathy"	""	""	""	""	"0"	""	""	""	""
"00319937"	""	""	""	"16"	""	"00006"	"{PMID:Villar-Quiles 2020:32796131}"	"analysis 132 patients with SEPN1-related myopathy"	""	""	""	""	"0"	""	""	""	""
"00319938"	""	""	""	"8"	""	"00006"	"{PMID:Villar-Quiles 2020:32796131}"	"analysis 132 patients with SEPN1-related myopathy"	""	""	""	""	"0"	""	""	""	""
"00319939"	""	""	""	"1"	""	"00006"	"{PMID:Villar-Quiles 2020:32796131}"	"analysis 132 patients with SEPN1-related myopathy"	""	""	""	""	"0"	""	""	""	""
"00319940"	""	""	""	"2"	""	"00006"	"{PMID:Villar-Quiles 2020:32796131}"	"analysis 132 patients with SEPN1-related myopathy"	""	""	""	""	"0"	""	""	""	""
"00319941"	""	""	""	"2"	""	"00006"	"{PMID:Villar-Quiles 2020:32796131}"	"analysis 132 patients with SEPN1-related myopathy"	""	""	""	""	"0"	""	""	""	""
"00319942"	""	""	""	"2"	""	"00006"	"{PMID:Villar-Quiles 2020:32796131}"	"analysis 132 patients with SEPN1-related myopathy"	""	""	""	""	"0"	""	""	""	""
"00319943"	""	""	""	"1"	""	"00006"	"{PMID:Villar-Quiles 2020:32796131}"	"analysis 132 patients with SEPN1-related myopathy"	""	""	""	""	"0"	""	""	""	""
"00319944"	""	""	""	"1"	""	"00006"	"{PMID:Villar-Quiles 2020:32796131}"	"analysis 132 patients with SEPN1-related myopathy"	""	""	""	""	"0"	""	""	""	""
"00319945"	""	""	""	"1"	""	"00006"	"{PMID:Villar-Quiles 2020:32796131}"	"analysis 132 patients with SEPN1-related myopathy"	""	""	""	""	"0"	""	""	""	""
"00319946"	""	""	""	"2"	""	"00006"	"{PMID:Villar-Quiles 2020:32796131}"	"analysis 132 patients with SEPN1-related myopathy"	""	""	""	""	"0"	""	""	""	""
"00319947"	""	""	""	"1"	""	"00006"	"{PMID:Villar-Quiles 2020:32796131}"	"analysis 132 patients with SEPN1-related myopathy"	""	""	""	""	"0"	""	""	""	""
"00319948"	""	""	""	"1"	""	"00006"	"{PMID:Villar-Quiles 2020:32796131}"	"analysis 132 patients with SEPN1-related myopathy"	""	""	""	""	"0"	""	""	""	""
"00319949"	""	""	""	"1"	""	"00006"	"{PMID:Villar-Quiles 2020:32796131}"	"analysis 132 patients with SEPN1-related myopathy"	""	""	""	""	"0"	""	""	""	""
"00319950"	""	""	""	"1"	""	"00006"	"{PMID:Villar-Quiles 2020:32796131}"	"analysis 132 patients with SEPN1-related myopathy"	""	""	""	""	"0"	""	""	""	""
"00319951"	""	""	""	"9"	""	"00006"	"{PMID:Villar-Quiles 2020:32796131}"	"analysis 132 patients with SEPN1-related myopathy"	""	""	""	""	"0"	""	""	""	""
"00319952"	""	""	""	"9"	""	"00006"	"{PMID:Villar-Quiles 2020:32796131}"	"analysis 132 patients with SEPN1-related myopathy"	""	""	""	""	"0"	""	""	""	""
"00319953"	""	""	""	"1"	""	"00006"	"{PMID:Villar-Quiles 2020:32796131}"	"analysis 132 patients with SEPN1-related myopathy"	""	""	""	""	"0"	""	""	""	""
"00319954"	""	""	""	"1"	""	"00006"	"{PMID:Villar-Quiles 2020:32796131}"	"analysis 132 patients with SEPN1-related myopathy"	""	""	""	""	"0"	""	""	""	""
"00319955"	""	""	""	"1"	""	"00006"	"{PMID:Villar-Quiles 2020:32796131}"	"analysis 132 patients with SEPN1-related myopathy"	""	""	""	""	"0"	""	""	""	""
"00319956"	""	""	""	"8"	""	"00006"	"{PMID:Villar-Quiles 2020:32796131}"	"analysis 132 patients with SEPN1-related myopathy"	""	""	""	""	"0"	""	""	""	""
"00319957"	""	""	""	"1"	""	"00006"	"{PMID:Villar-Quiles 2020:32796131}"	"analysis 132 patients with SEPN1-related myopathy"	""	""	""	""	"0"	""	""	""	""
"00319958"	""	""	""	"2"	""	"00006"	"{PMID:Villar-Quiles 2020:32796131}"	"analysis 132 patients with SEPN1-related myopathy"	""	""	""	""	"0"	""	""	""	""
"00319959"	""	""	""	"1"	""	"00006"	"{PMID:Villar-Quiles 2020:32796131}"	"analysis 132 patients with SEPN1-related myopathy"	""	""	""	""	"0"	""	""	""	""
"00319960"	""	""	""	"5"	""	"00006"	"{PMID:Villar-Quiles 2020:32796131}"	"analysis 132 patients with SEPN1-related myopathy"	""	""	""	""	"0"	""	""	""	""
"00319961"	""	""	""	"1"	""	"00006"	"{PMID:Villar-Quiles 2020:32796131}"	"analysis 132 patients with SEPN1-related myopathy"	""	""	""	""	"0"	""	""	""	""
"00319962"	""	""	""	"2"	""	"00006"	"{PMID:Villar-Quiles 2020:32796131}"	"analysis 132 patients with SEPN1-related myopathy"	""	""	""	""	"0"	""	""	""	""
"00319963"	""	""	""	"2"	""	"00006"	"{PMID:Villar-Quiles 2020:32796131}"	"analysis 132 patients with SEPN1-related myopathy"	""	""	""	""	"0"	""	""	""	""
"00319964"	""	""	""	"6"	""	"00006"	"{PMID:Villar-Quiles 2020:32796131}"	"analysis 132 patients with SEPN1-related myopathy"	""	""	""	""	"0"	""	""	""	""
"00319965"	""	""	""	"1"	""	"00006"	"{PMID:Villar-Quiles 2020:32796131}"	"analysis 132 patients with SEPN1-related myopathy"	""	""	""	""	"0"	""	""	""	""
"00319966"	""	""	""	"1"	""	"00006"	"{PMID:Villar-Quiles 2020:32796131}"	"analysis 132 patients with SEPN1-related myopathy"	""	""	""	""	"0"	""	""	""	""
"00319967"	""	""	""	"3"	""	"00006"	"{PMID:Villar-Quiles 2020:32796131}"	"analysis 132 patients with SEPN1-related myopathy"	""	""	""	""	"0"	""	""	""	""
"00319968"	""	""	""	"2"	""	"00006"	"{PMID:Villar-Quiles 2020:32796131}"	"analysis 132 patients with SEPN1-related myopathy"	""	""	""	""	"0"	""	""	""	""
"00319969"	""	""	""	"1"	""	"00006"	"{PMID:Villar-Quiles 2020:32796131}"	"analysis 132 patients with SEPN1-related myopathy"	""	""	""	""	"0"	""	""	""	""
"00319970"	""	""	""	"1"	""	"00006"	"{PMID:Villar-Quiles 2020:32796131}"	"analysis 132 patients with SEPN1-related myopathy"	""	""	""	""	"0"	""	""	""	""
"00319971"	""	""	""	"1"	""	"00006"	"{PMID:Villar-Quiles 2020:32796131}"	"analysis 132 patients with SEPN1-related myopathy"	""	""	""	""	"0"	""	""	""	""
"00319972"	""	""	""	"1"	""	"00006"	"{PMID:Villar-Quiles 2020:32796131}"	"analysis 132 patients with SEPN1-related myopathy"	""	""	""	""	"0"	""	""	""	""
"00319973"	""	""	""	"1"	""	"00006"	"{PMID:Villar-Quiles 2020:32796131}"	"analysis 132 patients with SEPN1-related myopathy"	""	""	""	""	"0"	""	""	""	""
"00319974"	""	""	""	"2"	""	"00006"	"{PMID:Villar-Quiles 2020:32796131}"	"analysis 132 patients with SEPN1-related myopathy"	""	""	""	""	"0"	""	""	""	""
"00319975"	""	""	""	"1"	""	"00006"	"{PMID:Villar-Quiles 2020:32796131}"	"analysis 132 patients with SEPN1-related myopathy"	""	""	""	""	"0"	""	""	""	""
"00319976"	""	""	""	"1"	""	"00006"	"{PMID:Villar-Quiles 2020:32796131}"	"analysis 132 patients with SEPN1-related myopathy"	""	""	""	""	"0"	""	""	""	""
"00319977"	""	""	""	"1"	""	"00006"	"{PMID:Villar-Quiles 2020:32796131}"	"analysis 132 patients with SEPN1-related myopathy"	""	""	""	""	"0"	""	""	""	""
"00319978"	""	""	""	"1"	""	"00006"	"{PMID:Villar-Quiles 2020:32796131}"	"analysis 132 patients with SEPN1-related myopathy"	""	""	""	""	"0"	""	""	""	""
"00319979"	""	""	""	"10"	""	"00006"	"{PMID:Villar-Quiles 2020:32796131}"	"analysis 132 patients with SEPN1-related myopathy"	""	""	""	""	"0"	""	""	""	""
"00319980"	""	""	""	"1"	""	"00006"	"{PMID:Villar-Quiles 2020:32796131}"	"analysis 132 patients with SEPN1-related myopathy"	""	""	""	""	"0"	""	""	""	""
"00319981"	""	""	""	"2"	""	"00006"	"{PMID:Villar-Quiles 2020:32796131}"	"analysis 132 patients with SEPN1-related myopathy"	""	""	""	""	"0"	""	""	""	""
"00319982"	""	""	""	"3"	""	"00006"	"{PMID:Villar-Quiles 2020:32796131}"	"analysis 132 patients with SEPN1-related myopathy"	""	""	""	""	"0"	""	""	""	""
"00319983"	""	""	""	"2"	""	"00006"	"{PMID:Villar-Quiles 2020:32796131}"	"analysis 132 patients with SEPN1-related myopathy"	""	""	""	""	"0"	""	""	""	""
"00319984"	""	""	""	"1"	""	"00006"	"{PMID:Villar-Quiles 2020:32796131}"	"analysis 132 patients with SEPN1-related myopathy"	""	""	""	""	"0"	""	""	""	""
"00319985"	""	""	""	"1"	""	"00006"	"{PMID:Villar-Quiles 2020:32796131}"	"analysis 132 patients with SEPN1-related myopathy"	""	""	""	""	"0"	""	""	""	""
"00319986"	""	""	""	"1"	""	"00006"	"{PMID:Villar-Quiles 2020:32796131}"	"analysis 132 patients with SEPN1-related myopathy"	""	""	""	""	"0"	""	""	""	""
"00319987"	""	""	""	"1"	""	"00006"	"{PMID:Villar-Quiles 2020:32796131}"	"analysis 132 patients with SEPN1-related myopathy"	""	""	""	""	"0"	""	""	""	""
"00319988"	""	""	""	"1"	""	"00006"	"{PMID:Villar-Quiles 2020:32796131}"	"analysis 132 patients with SEPN1-related myopathy"	""	""	""	""	"0"	""	""	""	""
"00319989"	""	""	""	"1"	""	"00006"	"{PMID:Villar-Quiles 2020:32796131}"	"analysis 132 patients with SEPN1-related myopathy"	""	""	""	""	"0"	""	""	""	""
"00319990"	""	""	""	"1"	""	"00006"	"{PMID:Villar-Quiles 2020:32796131}"	"analysis 132 patients with SEPN1-related myopathy"	""	""	""	""	"0"	""	""	""	""
"00319991"	""	""	""	"1"	""	"00006"	"{PMID:Villar-Quiles 2020:32796131}"	"analysis 132 patients with SEPN1-related myopathy"	""	""	""	""	"0"	""	""	""	""
"00319992"	""	""	""	"2"	""	"00006"	"{PMID:Villar-Quiles 2020:32796131}"	"analysis 132 patients with SEPN1-related myopathy"	""	""	""	""	"0"	""	""	""	""
"00329115"	""	""	""	"1"	""	"03361"	""	"congenital myopathy"	"M"	""	"France"	""	""	""	""	""	""
"00374478"	""	""	""	"1"	""	"00006"	"{PMID:Ganapathy 2019:31069529}"	""	""	""	"India"	""	"0"	""	""	""	"S-361"
"00374480"	""	""	""	"1"	""	"00006"	"{PMID:Ganapathy 2019:31069529}"	""	""	""	"India"	""	"0"	""	""	""	"S-1372"
"00398930"	""	""	""	"1"	""	"00006"	"{PMID:Natera-de Benito 2021:33333461}"	"patient"	"F"	""	"Spain"	""	"0"	""	""	""	"Fam30Pat33"
"00398931"	""	""	""	"2"	""	"00006"	"{PMID:Natera-de Benito 2021:33333461}"	"patient"	"M"	""	"Spain"	""	"0"	""	""	""	"Fam31Pat34"
"00398932"	""	""	"00398931"	"1"	""	"00006"	"{PMID:Natera-de Benito 2021:33333461}"	"patient"	"M"	""	"Spain"	""	"0"	""	""	""	"Fam31Pat35"
"00398933"	""	""	""	"1"	""	"00006"	"{PMID:Natera-de Benito 2021:33333461}"	"patient"	"M"	""	"Spain"	""	"0"	""	""	""	"Fam32Pat36"
"00398934"	""	""	""	"1"	""	"00006"	"{PMID:Natera-de Benito 2021:33333461}"	"patient"	"M"	""	"Spain"	""	"0"	""	""	""	"Fam33Pat37"
"00398935"	""	""	""	"2"	""	"00006"	"{PMID:Natera-de Benito 2021:33333461}"	"patient"	"F"	""	"Spain"	"12y"	"0"	""	""	""	"Fam34Pat38"
"00398936"	""	""	"00398935"	"1"	""	"00006"	"{PMID:Natera-de Benito 2021:33333461}"	"patient"	"F"	""	"Spain"	""	"0"	""	""	""	"Fam34Pat39"
"00399035"	""	""	""	"1"	""	"00006"	"{PMID:Gonzalez-Quereda 2020:32403337}"	"patient"	"M"	""	"Spain"	""	"0"	""	""	""	"P88"
"00410586"	""	""	""	"1"	""	"00006"	"{PMID:Schuermans 2022:35606766}"	"analysis 329 adult patients suffering from undiagnosed rare disease"	"M"	""	"Belgium"	""	"0"	""	""	""	"Pat48"
"00430464"	""	""	""	"1"	""	"00006"	"{PMID:Cavdarli 2023:36575883}"	"analysis 146 neuromuscular disease patients, unsolved"	"F"	""	"Turkey"	""	"0"	""	""	""	"U8"
"00435032"	""	""	""	"1"	""	"01164"	""	""	"M"	"yes"	"? (unknown)"	""	"0"	""	""	"middle east"	"247571"
"00438542"	""	""	""	"1"	""	"00006"	"{PMID:Cavdarli 2023:36575883}"	"analysis 67 patients muscular dystrophy/myopathy (not DMD)"	"F"	""	"Turkey"	""	"0"	""	""	""	"U8"
"00438775"	""	""	""	"1"	""	"02404"	"{PMID:Lin 2023:38031187}, {DOI:Lin 2023:10.1186/s13073-023-01258-4}"	"2-generation family, affected twin pair F, M), unaffected parents"	"F"	"yes"	"Egypt"	""	"0"	""	""	""	"Fam11PatII4"
"00442692"	""	""	""	"1"	""	"00006"	"{PMID:Westra 2019:31127727}"	""	"F"	""	""	""	"0"	""	""	""	"Pat64"
"00442693"	""	""	""	"1"	""	"00006"	"{PMID:Westra 2019:31127727}"	""	"F"	""	""	""	"0"	""	""	""	"Pat65"
"00442694"	""	""	""	"1"	""	"00006"	"{PMID:Westra 2019:31127727}"	""	"M"	""	""	""	"0"	""	""	""	"Pat66"
"00442715"	""	""	""	"1"	""	"00006"	"{PMID:Westra 2019:31127727}"	""	"F"	""	""	""	"0"	""	""	""	"Pat87"
"00442716"	""	""	""	"1"	""	"00006"	"{PMID:Westra 2019:31127727}"	""	"M"	""	""	""	"0"	""	""	""	"Pat88"
"00442815"	""	""	""	"1"	""	"00006"	"{PMID:Bouman 2023:37807786}"	""	"M"	""	""	""	"0"	""	""	""	"Pat1"
"00442816"	""	""	""	"1"	""	"00006"	"{PMID:Bouman 2023:37807786}"	""	"F"	""	""	""	"0"	""	""	""	"Pat2"
"00442817"	""	""	""	"1"	""	"00006"	"{PMID:Bouman 2023:37807786}"	""	"M"	""	""	""	"0"	""	""	""	"Pat3"
"00442818"	""	""	""	"1"	""	"00006"	"{PMID:Bouman 2023:37807786}"	""	"M"	""	""	""	"0"	""	""	""	"Pat4"
"00442819"	""	""	""	"1"	""	"00006"	"{PMID:Bouman 2023:37807786}"	""	"F"	""	""	""	"0"	""	""	""	"Pat5"
"00442820"	""	""	""	"1"	""	"00006"	"{PMID:Bouman 2023:37807786}"	""	"M"	""	""	""	"0"	""	""	""	"Pat6"
"00442821"	""	""	""	"1"	""	"00006"	"{PMID:Bouman 2023:37807786}"	""	"F"	""	""	""	"0"	""	""	""	"Pat7"
"00442822"	""	""	""	"1"	""	"00006"	"{PMID:Bouman 2023:37807786}"	""	"M"	""	""	""	"0"	""	""	""	"Pat8"
"00442823"	""	""	""	"1"	""	"00006"	"{PMID:Bouman 2023:37807786}"	""	"M"	""	""	""	"0"	""	""	""	"Pat9"
"00442824"	""	""	""	"1"	""	"00006"	"{PMID:Bouman 2023:37807786}"	""	"M"	""	""	""	"0"	""	""	""	"Pat10"
"00442825"	""	""	""	"1"	""	"00006"	"{PMID:Bouman 2023:37807786}"	""	"M"	""	""	""	"0"	""	""	""	"Pat11"
"00462238"	""	""	""	"1"	""	"01164"	""	""	"F"	"no"	"Turkey"	""	"0"	""	""	""	"319493"


## Individuals_To_Diseases ## Do not remove or alter this header ##
## Count = 329
"{{individualid}}"	"{{diseaseid}}"
"00037015"	"00198"
"00037016"	"00198"
"00054671"	"00360"
"00104269"	"00198"
"00104271"	"02439"
"00104272"	"02439"
"00104273"	"02439"
"00104274"	"02439"
"00104275"	"02439"
"00104276"	"02439"
"00104277"	"00198"
"00104278"	"02439"
"00104279"	"02439"
"00104280"	"02439"
"00104281"	"02439"
"00104282"	"02439"
"00104283"	"02439"
"00104284"	"02439"
"00104285"	"01959"
"00104286"	"00198"
"00104287"	"01959"
"00104288"	"00198"
"00104289"	"00198"
"00104290"	"00198"
"00104291"	"00198"
"00104292"	"02439"
"00104293"	"02439"
"00104294"	"02439"
"00104295"	"02439"
"00104296"	"02439"
"00104297"	"02439"
"00104298"	"02439"
"00104299"	"02439"
"00104300"	"00244"
"00104301"	"02439"
"00104302"	"00244"
"00104303"	"02439"
"00104304"	"00198"
"00104305"	"00198"
"00104306"	"00198"
"00104307"	"00198"
"00104308"	"00198"
"00104309"	"02439"
"00104310"	"02439"
"00104311"	"00198"
"00104312"	"00198"
"00104313"	"02439"
"00104314"	"02439"
"00104324"	"00244"
"00104325"	"00198"
"00104326"	"00198"
"00104327"	"02439"
"00104328"	"02439"
"00104329"	"00244"
"00104330"	"00244"
"00104331"	"00198"
"00104332"	"00244"
"00104333"	"02439"
"00104334"	"02439"
"00104335"	"00198"
"00104336"	"02439"
"00104337"	"02439"
"00104338"	"02439"
"00104339"	"02439"
"00104340"	"02439"
"00104341"	"02439"
"00104342"	"02439"
"00104343"	"02439"
"00104344"	"02439"
"00104345"	"02439"
"00104346"	"00198"
"00104347"	"02439"
"00104348"	"02439"
"00104349"	"02439"
"00104350"	"02439"
"00104351"	"02439"
"00104352"	"02439"
"00104353"	"02439"
"00104354"	"02439"
"00104355"	"02439"
"00104356"	"02439"
"00104357"	"02439"
"00104358"	"02439"
"00104359"	"02439"
"00104360"	"02439"
"00104361"	"02439"
"00104362"	"02439"
"00104363"	"02439"
"00104364"	"02439"
"00104365"	"02439"
"00104366"	"02439"
"00104367"	"02439"
"00104368"	"02439"
"00104369"	"01959"
"00104370"	"02439"
"00104371"	"02439"
"00104372"	"01959"
"00104373"	"00244"
"00104374"	"00198"
"00104375"	"02439"
"00104376"	"02439"
"00104377"	"02439"
"00104378"	"02439"
"00104379"	"02439"
"00104380"	"00198"
"00104381"	"00198"
"00104382"	"00198"
"00104383"	"00198"
"00104384"	"00198"
"00104385"	"00198"
"00104386"	"00198"
"00104387"	"00198"
"00104388"	"00198"
"00104389"	"00198"
"00104390"	"00198"
"00104391"	"00198"
"00104392"	"00198"
"00104393"	"00198"
"00104394"	"00198"
"00104395"	"00198"
"00104396"	"00198"
"00104397"	"00198"
"00104398"	"00198"
"00104399"	"00198"
"00104400"	"00198"
"00104401"	"00198"
"00104402"	"00198"
"00104403"	"00198"
"00104404"	"00198"
"00104405"	"00198"
"00104406"	"00198"
"00104407"	"00198"
"00104408"	"00198"
"00104409"	"00198"
"00104410"	"00198"
"00104411"	"02439"
"00104412"	"02439"
"00104413"	"02439"
"00104414"	"02439"
"00104415"	"02439"
"00104416"	"02439"
"00104417"	"02439"
"00104418"	"02439"
"00104419"	"02439"
"00104420"	"02439"
"00104421"	"02439"
"00104422"	"02439"
"00104423"	"02439"
"00104424"	"02439"
"00104425"	"02439"
"00104426"	"02439"
"00104427"	"02439"
"00104428"	"02439"
"00104429"	"02439"
"00104430"	"02439"
"00104431"	"02439"
"00104432"	"02439"
"00104433"	"02439"
"00104434"	"02439"
"00104435"	"02439"
"00104436"	"02439"
"00104437"	"02439"
"00104438"	"02439"
"00104439"	"02439"
"00104440"	"02439"
"00104441"	"02439"
"00104442"	"02439"
"00104443"	"02439"
"00104444"	"02439"
"00104445"	"02439"
"00104446"	"02439"
"00104447"	"02439"
"00104448"	"02439"
"00104449"	"02439"
"00104450"	"02439"
"00104451"	"02439"
"00104452"	"02439"
"00104453"	"02439"
"00104454"	"02439"
"00104455"	"02439"
"00104456"	"02439"
"00104457"	"02439"
"00104458"	"02439"
"00104459"	"02439"
"00104460"	"00244"
"00104461"	"02439"
"00104462"	"02439"
"00104463"	"00198"
"00104464"	"00198"
"00104465"	"00198"
"00104466"	"00198"
"00104467"	"00198"
"00104468"	"00198"
"00104469"	"00198"
"00104470"	"00198"
"00104471"	"00198"
"00104472"	"00198"
"00104473"	"00198"
"00104474"	"00198"
"00104475"	"00198"
"00104476"	"00198"
"00104477"	"00198"
"00104478"	"00198"
"00104479"	"00198"
"00104480"	"00198"
"00104481"	"00198"
"00104482"	"00198"
"00104483"	"00198"
"00104484"	"00198"
"00104485"	"00198"
"00104486"	"00198"
"00104487"	"00198"
"00104488"	"02439"
"00104489"	"02439"
"00104490"	"00244"
"00104491"	"02439"
"00104492"	"00360"
"00104493"	"02439"
"00104494"	"00244"
"00183459"	"00244"
"00218358"	"02439"
"00248144"	"00198"
"00265665"	"05126"
"00274447"	"05121"
"00274448"	"05121"
"00288992"	"00360"
"00289299"	"00198"
"00289804"	"00198"
"00289805"	"00198"
"00289806"	"00198"
"00289807"	"00198"
"00289808"	"00198"
"00289809"	"00198"
"00289810"	"00198"
"00304195"	"00198"
"00314447"	"05126"
"00314448"	"05126"
"00314449"	"05126"
"00319935"	"00244"
"00319936"	"00244"
"00319937"	"00244"
"00319938"	"00244"
"00319939"	"00244"
"00319940"	"00244"
"00319941"	"00244"
"00319942"	"00244"
"00319943"	"00244"
"00319944"	"00244"
"00319945"	"00244"
"00319946"	"00244"
"00319947"	"00244"
"00319948"	"00244"
"00319949"	"00244"
"00319950"	"00244"
"00319951"	"00244"
"00319952"	"00244"
"00319953"	"00244"
"00319954"	"00244"
"00319955"	"00244"
"00319956"	"00244"
"00319957"	"00244"
"00319958"	"00244"
"00319959"	"00244"
"00319960"	"00244"
"00319961"	"00244"
"00319962"	"00244"
"00319963"	"00244"
"00319964"	"00244"
"00319965"	"00244"
"00319966"	"00244"
"00319967"	"00244"
"00319968"	"00244"
"00319969"	"00244"
"00319970"	"00244"
"00319971"	"00244"
"00319972"	"00244"
"00319973"	"00244"
"00319974"	"00244"
"00319975"	"00244"
"00319976"	"00244"
"00319977"	"00244"
"00319978"	"00244"
"00319979"	"00244"
"00319980"	"00244"
"00319981"	"00244"
"00319982"	"00244"
"00319983"	"00244"
"00319984"	"00244"
"00319985"	"00244"
"00319986"	"00244"
"00319987"	"00244"
"00319988"	"00244"
"00319989"	"00244"
"00319990"	"00244"
"00319991"	"00244"
"00319992"	"00244"
"00329115"	"01959"
"00374478"	"00198"
"00374480"	"00198"
"00398930"	"00244"
"00398931"	"00244"
"00398932"	"00244"
"00398933"	"00244"
"00398934"	"00244"
"00398935"	"00244"
"00398936"	"00244"
"00399035"	"05618"
"00410586"	"00198"
"00430464"	"05618"
"00435032"	"05554"
"00438542"	"05121"
"00438775"	"00244"
"00442692"	"05618"
"00442693"	"05618"
"00442694"	"05618"
"00442715"	"05618"
"00442716"	"05618"
"00442815"	"05618"
"00442816"	"05618"
"00442817"	"05618"
"00442818"	"05618"
"00442819"	"05618"
"00442820"	"05618"
"00442821"	"05618"
"00442822"	"05618"
"00442823"	"05618"
"00442824"	"05618"
"00442825"	"05618"
"00462238"	"05554"


## Phenotypes ## Do not remove or alter this header ##
## Note: Only showing Phenotype columns active for Diseases 00198, 00244, 00360, 01959, 02439, 05121, 05126, 05554, 05618
## Count = 261
"{{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}}"
"0000041350"	"00360"	"00054671"	"01399"	"Familial, autosomal recessive"	"22y"	"progressive course with loss of ambulation from 10y, mild facial weakness, scoliosis, restrictive lung disease; CPK mild elevation (57-503); histology dystrophic"	"6m"	""	""	""	""	""	""	""	""	""	""
"0000082211"	"00198"	"00104269"	"00006"	"Unknown"	""	"dysplasia, mandibuloacral, progeria, rigid spine muscular dystrophy; CPK 1808"	""	"3y"	""	""	""	""	""	""	""	""	""
"0000082212"	"02439"	"00104271"	"00006"	"Isolated (sporadic)"	""	"delayed motor milestones, never jump or run, wheelchair bound 34y; IHC SEPN1 low, spotted aggregates; WB no SEPN1; CPK 590"	""	""	""	""	""	""	""	""	""	""	""
"0000082213"	"02439"	"00104272"	"00006"	"Unknown"	""	""	""	""	""	""	""	""	""	""	""	""	""
"0000082214"	"02439"	"00104273"	"00006"	"Unknown"	""	""	""	""	""	""	""	""	""	""	""	""	""
"0000082215"	"02439"	"00104274"	"00006"	"Unknown"	""	""	""	""	""	""	""	""	""	""	""	""	""
"0000082216"	"02439"	"00104275"	"00006"	"Unknown"	""	""	""	""	""	""	""	""	""	""	""	""	""
"0000082217"	"02439"	"00104276"	"00006"	"Unknown"	""	""	""	""	""	""	""	""	""	""	""	""	""
"0000082218"	"00198"	"00104277"	"00006"	"Isolated (sporadic)"	""	"dropped head syndrome (DHS),w eak head control; w12m; CPK 1x"	""	""	""	""	""	""	""	""	""	""	""
"0000082219"	"02439"	"00104278"	"00006"	"Unknown"	""	"WB SEPN1 normal"	""	""	""	""	""	""	""	""	""	""	""
"0000082220"	"02439"	"00104279"	"00006"	"Unknown"	""	""	""	""	""	""	""	""	""	""	""	""	""
"0000082221"	"02439"	"00104280"	"00006"	"Unknown"	""	""	""	""	""	""	""	""	""	""	""	""	""
"0000082222"	"02439"	"00104281"	"00006"	"Isolated (sporadic)"	""	"s6m, w11m"	""	""	""	""	""	""	""	""	""	""	""
"0000082223"	"02439"	"00104282"	"00006"	"Unknown"	""	""	""	""	""	""	""	""	""	""	""	""	""
"0000082224"	"02439"	"00104283"	"00006"	"Unknown"	""	""	""	""	""	""	""	""	""	""	""	""	""
"0000082225"	"02439"	"00104284"	"00006"	"Unknown"	""	"WB SEPN1 faint"	""	""	""	""	""	""	""	""	""	""	""
"0000082226"	"01959"	"00104285"	"00006"	"Familial, autosomal recessive"	"41y"	"gross motor delay, deterioration with loss of ambulation, severe scoliosis; normal CK"	"00y08m"	""	""	"WB SEPN1 normal"	""	""	""	""	"CFTD"	""	""
"0000082227"	"00198"	"00104286"	"00006"	"Unknown"	""	""	""	""	""	""	""	""	""	""	""	""	""
"0000082228"	"01959"	"00104287"	"00006"	"Unknown"	""	"WB SEPN1 normal"	""	""	""	""	""	""	""	""	""	""	""
"0000082229"	"00198"	"00104288"	"00006"	"Unknown"	""	"WB SEPN1 normal"	""	""	""	""	""	""	""	""	""	""	""
"0000082230"	"00198"	"00104289"	"00006"	"Unknown"	""	""	""	""	""	""	""	""	""	""	""	""	""
"0000082231"	"00198"	"00104290"	"00006"	"Unknown"	""	"mulitminicore disease (MmD)"	""	""	""	""	""	""	""	""	""	""	""
"0000082232"	"00198"	"00104291"	"00006"	"Unknown"	""	"mulitminicore disease (MmD)"	""	""	""	""	""	""	""	""	""	""	""
"0000082233"	"02439"	"00104292"	"00006"	"Unknown"	""	""	""	""	""	""	""	""	""	""	""	""	""
"0000082234"	"02439"	"00104293"	"00006"	"Isolated (sporadic)"	""	"weak neck muscles infancy; WB SEPN1 faint; ambulant at 45y"	"32y"	""	"difficulty climbing stairs, excercise intolerance"	""	""	""	""	""	""	""	""
"0000082235"	"02439"	"00104294"	"00006"	"Isolated (sporadic)"	""	"IHC SEPN1 normal; WB SEPN1 reduced size; CPK 130"	""	""	""	""	""	""	""	""	""	""	""
"0000082236"	"02439"	"00104295"	"00006"	"Isolated (sporadic)"	""	"neonatal hypotonia, poor head control, facial weakness; WB SEPN1 faint; w20m"	""	"18y"	""	""	""	""	""	""	""	""	""
"0000082237"	"02439"	"00104296"	"00006"	"Isolated (sporadic)"	""	"neonatal hypotonia, respiratory failure at birth, facial weakness; WB SEPN1 faint; w13m"	""	"29y"	""	""	""	""	""	""	""	""	""
"0000082238"	"02439"	"00104297"	"00006"	"Isolated (sporadic)"	""	"neonatal hypotonia, respiratory failure at birth, facial weakness; w15m"	""	"30y"	""	""	""	""	""	""	""	""	""
"0000082239"	"02439"	"00104298"	"00006"	"Isolated (sporadic)"	""	"delayed motor milestones, feeding difficulties, facial weakness; w18m"	""	"26y"	""	""	""	""	""	""	""	""	""
"0000082240"	"02439"	"00104299"	"00006"	"Isolated (sporadic)"	""	"lack of head control, delayed motor milestones, facial weakness; w18m"	""	"15y"	""	""	""	""	""	""	""	""	""
"0000082241"	"00244"	"00104300"	"00006"	"Isolated (sporadic)"	""	"myopathy, desmin-related (DRM)"	""	""	""	""	""	""	""	""	""	""	""
"0000082242"	"02439"	"00104301"	"00006"	"Isolated (sporadic)"	""	"neonatal hypotonia, weak suckling, lack of head control, facial weakness mild; WB SEPN1 faint; w15m"	""	"17y"	""	""	""	""	""	""	""	""	""
"0000082243"	"00244"	"00104302"	"00006"	"Isolated (sporadic)"	""	"myopathy, desmin-related, Mallory body-like inclusions"	""	""	""	""	""	""	""	""	""	""	""
"0000082244"	"02439"	"00104303"	"00006"	"Isolated (sporadic)"	""	"poor head control, delayed motor milestones, failure to thrive, no facial weakness; w15m"	""	"30y"	""	""	""	""	""	""	""	""	""
"0000082245"	"00198"	"00104304"	"00006"	"Isolated (sporadic)"	""	"mulitminicore disease; lack of head control, poor motor performance, frequent falls, facial weakness mild; w18m"	""	"24y"	""	""	""	""	""	""	""	""	""
"0000082246"	"00198"	"00104305"	"00006"	"Isolated (sporadic)"	""	"mulitminicore disease; lack of head control, poor motor performance, frequent falls, facial weakness mild; w20m"	""	"21y"	""	""	""	""	""	""	""	""	""
"0000082247"	"00198"	"00104306"	"00006"	"Isolated (sporadic)"	""	"mulitminicore disease; failure to thrive, facial weakness mild; w18m"	""	"17y"	""	""	""	""	""	""	""	""	""
"0000082248"	"00198"	"00104307"	"00006"	"Isolated (sporadic)"	""	"mulitminicore disease; failure to thrive, facial weakness mild; w13m"	""	"10y"	""	""	""	""	""	""	""	""	""
"0000082249"	"00198"	"00104308"	"00006"	"Isolated (sporadic)"	""	"mulitminicore disease; neonatal hypotonia, weak suckling, lack of head control, facial weakness; w16m"	""	"6y"	""	""	""	""	""	""	""	""	""
"0000082250"	"02439"	"00104309"	"00006"	"Isolated (sporadic)"	""	"neonatal hypotonia, poor head control, facial weakness; w14m"	""	"23y"	""	""	""	""	""	""	""	""	""
"0000082251"	"02439"	"00104310"	"00006"	"Isolated (sporadic)"	""	"neonatal hypotonia, poor head control, facial weakness; w14m"	""	"19y"	""	""	""	""	""	""	""	""	""
"0000082252"	"00198"	"00104311"	"00006"	"Isolated (sporadic)"	""	"mulitminicore disease; poor head control, delayed motor milestones, respiratory insufficiency, facial weakness mild; w24m"	""	"37y"	""	""	""	""	""	""	""	""	""
"0000082253"	"00198"	"00104312"	"00006"	"Isolated (sporadic)"	""	"mulitminicore disease; congenital cervical scoliosis, no facial weakness; w14m"	""	"24y"	""	""	""	""	""	""	""	""	""
"0000082254"	"02439"	"00104313"	"00006"	"Isolated (sporadic)"	""	"delayed motor milestones, thorax deformity, facial weakness; w36m"	""	"41y"	""	""	""	""	""	""	""	""	""
"0000082255"	"02439"	"00104314"	"00006"	"Isolated (sporadic)"	""	""	""	""	""	""	""	""	""	""	""	""	""
"0000082256"	"00244"	"00104324"	"00464"	"Unknown"	""	""	""	""	""	""	""	""	""	""	""	""	""
"0000082257"	"00198"	"00104325"	"00464"	"Unknown"	""	"mulitminicore disease (MmD)"	""	""	""	""	""	""	""	""	""	""	""
"0000082258"	"00198"	"00104326"	"00464"	"Unknown"	""	"mulitminicore disease (MmD)"	""	""	""	""	""	""	""	""	""	""	""
"0000082259"	"02439"	"00104327"	"00464"	"Unknown"	""	""	""	""	""	""	""	""	""	""	""	""	""
"0000082260"	"02439"	"00104328"	"00464"	"Unknown"	""	""	""	""	""	""	""	""	""	""	""	""	""
"0000082261"	"00244"	"00104329"	"00464"	"Unknown"	""	""	""	""	""	""	""	""	""	""	""	""	""
"0000082262"	"00244"	"00104330"	"00464"	"Unknown"	""	""	""	""	""	""	""	""	""	""	""	""	""
"0000082263"	"00198"	"00104331"	"00464"	"Unknown"	""	"mulitminicore disease (MmD)"	""	""	""	""	""	""	""	""	""	""	""
"0000082264"	"00244"	"00104332"	"00464"	"Unknown"	""	""	""	""	""	""	""	""	""	""	""	""	""
"0000082265"	"02439"	"00104333"	"00464"	"Unknown"	""	""	""	""	""	""	""	""	""	""	""	""	""
"0000082266"	"02439"	"00104334"	"00464"	"Unknown"	""	""	""	""	""	""	""	""	""	""	""	""	""
"0000082267"	"00198"	"00104335"	"00464"	"Unknown"	""	""	""	""	""	""	""	""	""	""	""	""	""
"0000082268"	"02439"	"00104336"	"00402"	"Unknown"	""	"mulitminicore disease (MmD); dystrophy, muscular, rigid spine (RSMD-1)"	""	""	""	""	""	""	""	""	""	""	""
"0000082269"	"02439"	"00104337"	"00402"	"Unknown"	""	"mulitminicore disease (MmD); dystrophy, muscular, rigid spine (RSMD-1)"	""	""	""	""	""	""	""	""	""	""	""
"0000082270"	"02439"	"00104338"	"00402"	"Unknown"	""	"mulitminicore disease (MmD); dystrophy, muscular, rigid spine (RSMD-1)"	""	""	""	""	""	""	""	""	""	""	""
"0000082271"	"02439"	"00104339"	"00402"	"Unknown"	""	"mulitminicore disease/RSMD-1?"	""	""	""	""	""	""	""	""	""	""	""
"0000082272"	"02439"	"00104340"	"00402"	"Unknown"	""	"mulitminicore disease (MmD); dystrophy, muscular, rigid spine (RSMD-1)"	""	""	""	""	""	""	""	""	""	""	""
"0000082273"	"02439"	"00104341"	"00402"	"Unknown"	""	"mulitminicore disease/RSMD-1?"	""	""	""	""	""	""	""	""	""	""	""
"0000082274"	"02439"	"00104342"	"00402"	"Unknown"	""	"mulitminicore disease/RSMD-1?"	""	""	""	""	""	""	""	""	""	""	""
"0000082275"	"02439"	"00104343"	"00402"	"Unknown"	""	"mulitminicore disease (MmD); dystrophy, muscular, rigid spine (RSMD-1)"	""	""	""	""	""	""	""	""	""	""	""
"0000082276"	"02439"	"00104344"	"00402"	"Unknown"	""	"mulitminicore disease/RSMD-1?"	""	""	""	""	""	""	""	""	""	""	""
"0000082277"	"02439"	"00104345"	"00464"	"Unknown"	""	""	""	""	""	""	""	""	""	""	""	""	""
"0000082278"	"00198"	"00104346"	"00464"	"Unknown"	""	"myopathy"	""	""	""	""	""	""	""	""	""	""	""
"0000082279"	"02439"	"00104347"	"00464"	"Unknown"	""	""	""	""	""	""	""	""	""	""	""	""	""
"0000082280"	"02439"	"00104348"	"00006"	"Unknown"	""	""	""	""	""	""	""	""	""	""	""	""	""
"0000082281"	"02439"	"00104349"	"00006"	"Unknown"	""	""	""	""	""	""	""	""	""	""	""	""	""
"0000082282"	"02439"	"00104350"	"00006"	"Unknown"	""	""	""	""	""	""	""	""	""	""	""	""	""
"0000082283"	"02439"	"00104351"	"00006"	"Unknown"	""	"severe, scoliosis 1y, died of restrictive respiratory failure; w14m"	""	""	""	""	""	""	""	""	""	""	""
"0000082284"	"02439"	"00104352"	"00006"	"Unknown"	""	""	""	""	""	""	""	""	""	""	""	""	""
"0000082285"	"02439"	"00104353"	"00006"	"Unknown"	""	"SelN level <5%"	""	""	""	""	""	""	""	""	""	""	""
"0000082286"	"02439"	"00104354"	"00006"	"Unknown"	""	"SelN level 20%"	""	""	""	""	""	""	""	""	""	""	""
"0000082287"	"02439"	"00104355"	"00006"	"Unknown"	""	""	""	""	""	""	""	""	""	""	""	""	""
"0000082288"	"02439"	"00104356"	"00006"	"Isolated (sporadic)"	""	"6y-scoliosis, rigid spine syndrome; 8y-proximal muscle weakness, no progression, walk >4000m"	"2m"	""	"lack of head control"	""	""	""	""	""	""	""	""
"0000082289"	"02439"	"00104357"	"00006"	"Isolated (sporadic)"	""	"myopathic with cores; 11y-scoliosis, rigid spine syndrome; 18y-proximal muscle weakness, no progression, walk 3000–4000m; 13y-ventilation 2-4h/night; FVC 13y 18%"	"1y"	""	"hypotonia, lack of head control"	""	""	""	""	""	""	""	""
"0000082290"	"02439"	"00104358"	"00006"	"Isolated (sporadic)"	""	"12y-scoliosis, rigid spine syndrome; 14y-proximal muscle weakness, no progression, walk 1000m; not ventilated; FVC 13y 44%"	"1y"	""	"hypotonia"	""	""	""	""	""	""	""	""
"0000082291"	"02439"	"00104359"	"00006"	"Isolated (sporadic)"	""	"myopathic with cores; 15y-scoliosis, rigid spine syndrome; 17y-proximal muscle weakness, slow progression, walk 1000–2000m; not ventilated; FVC 16.6y 46%"	"1y"	""	"hypotonia"	""	""	""	""	""	""	""	""
"0000082292"	"02439"	"00104360"	"00006"	"Isolated (sporadic)"	""	"myopathic with multiminicores; 7y-scoliosis, 8y-rigid spine syndrome; 13y-proximal muscle weakness, no progression, walk 1000–2000m; not ventilated; FVC 11y 65%"	"1y"	""	"hypotonia, motor devevelopment delay"	""	""	""	""	""	""	""	""
"0000082293"	"02439"	"00104361"	"00006"	"Isolated (sporadic)"	""	"myopathic with unspecific changes; 4.5y-rigid spine syndrome; 7y-proximal muscle weakness, no progression, walk 1000–2000m; not ventilated; FVC 7y 39%"	"4y"	""	"lack of head control, motor devevelopment delay"	""	""	""	""	""	""	""	""
"0000082294"	"02439"	"00104362"	"00006"	"Isolated (sporadic)"	""	"myopathic with multiminicores; 12y-scoliosis, rigid spine syndrome; 13y-proximal muscle weakness, slow progression, walk 1000m; 10y-ventilation 8-9h/night; FVC 9y 50.5%"	"4y"	""	"lack of head control, motor devevelopment delay"	""	""	""	""	""	""	""	""
"0000082295"	"02439"	"00104363"	"00006"	"Isolated (sporadic)"	""	"myopathic with unspecific changes; 18y-scoliosis, rigid spine syndrome; 21y-proximal muscle weakness, slow progression, walk>4000m; not ventilated; FVC 13y 62%"	"1y"	""	"hypotonia, lack of head control"	""	""	""	""	""	""	""	""
"0000082296"	"02439"	"00104364"	"00006"	"Unknown"	""	"5y-proximal muscle weakness, no progression, walk>4000m"	"1y"	""	"hypotonia, lack of head control"	""	""	""	""	""	""	""	""
"0000082297"	"02439"	"00104365"	"00006"	"Unknown"	""	"unspecific with fiber size variability; 13y-scoliosis; 15y-proximal muscle weakness, slow progression, walk 500–1000m; 10y-intermittend ventilation night; FVC 10y 33%"	"2y"	""	"motor devevelopment delay"	""	""	""	""	""	""	""	""
"0000082298"	"02439"	"00104366"	"00006"	"Unknown"	""	"congenital fiber–type dysproportion; 11y-scoliosis, rigid spine syndrome, contractures in both elbows; 20y-proximal muscle weakness, no progression, walk>4000m; 12y-intermittend ventilation night; FVC 12y 56%"	"1y"	""	"hypotonia, motor devevelopment delay, impaired increase inweight"	""	""	""	""	""	""	""	""
"0000082299"	"02439"	"00104367"	"00464"	"Unknown"	""	""	""	""	""	""	""	""	""	""	""	""	""
"0000082300"	"02439"	"00104368"	"00464"	"Unknown"	""	""	""	""	""	""	""	""	""	""	""	""	""
"0000082301"	"01959"	"00104369"	"00464"	"Unknown"	""	""	""	""	""	""	""	""	""	""	""	""	""
"0000082302"	"02439"	"00104370"	"00464"	"Unknown"	""	""	""	""	""	""	""	""	""	""	""	""	""
"0000082303"	"02439"	"00104371"	"00464"	"Unknown"	""	""	""	""	""	""	""	""	""	""	""	""	""
"0000082304"	"01959"	"00104372"	"00464"	"Unknown"	""	""	""	""	""	""	""	""	""	""	""	""	""
"0000082305"	"00244"	"00104373"	"00464"	"Unknown"	""	"myopathy, scoliosis, reduced muscle mass; biopsy with myopathic and dystrophic changes"	""	""	""	""	""	""	""	""	""	""	""
"0000082306"	"00198"	"00104374"	"00464"	"Unknown"	""	"mulitminicore disease (MmD)"	""	""	""	""	""	""	""	""	""	""	""
"0000082307"	"02439"	"00104375"	"00464"	"Unknown"	""	""	""	""	""	""	""	""	""	""	""	""	""
"0000082308"	"02439"	"00104376"	"00490"	"Familial, autosomal recessive"	""	"not able to raise head from early childhood on, facies myopathica; w15m; CPK 300 U/l"	""	""	""	""	""	""	""	""	""	""	""
"0000082309"	"02439"	"00104377"	"03730"	"Isolated (sporadic)"	""	"5m"	"00y04m"	""	""	""	""	""	""	""	""	""	""
"0000082310"	"02439"	"00104378"	"00464"	"Unknown"	""	""	""	""	""	""	""	""	""	""	""	""	""
"0000082311"	"02439"	"00104379"	"00490"	"Familial, autosomal recessive"	""	"rigid spine syndrome; congenital muscle weakness, proximal, body size and weight below 3rd percentile, 2.5y when diagnosed"	"2y6m"	""	""	""	""	""	""	""	""	""	""
"0000082312"	"00198"	"00104380"	"00421"	"Familial"	""	"muscle problems"	""	""	""	""	""	""	""	""	""	""	""
"0000082313"	"00198"	"00104381"	"00421"	"Familial"	""	"muscle problems"	""	""	""	""	""	""	""	""	""	""	""
"0000082314"	"00198"	"00104382"	"00421"	"Familial"	""	"muscle problems"	""	""	""	""	""	""	""	""	""	""	""
"0000082315"	"00198"	"00104383"	"00421"	"Familial"	""	"muscle problems"	""	""	""	""	""	""	""	""	""	""	""
"0000082316"	"00198"	"00104384"	"00421"	"Familial"	""	"muscle problems"	""	""	""	""	""	""	""	""	""	""	""
"0000082317"	"00198"	"00104385"	"00421"	"Familial"	""	"muscle problems"	""	""	""	""	""	""	""	""	""	""	""
"0000082318"	"00198"	"00104386"	"00421"	"Unknown"	""	"muscle problems"	""	""	""	""	""	""	""	""	""	""	""
"0000082319"	"00198"	"00104387"	"00421"	"Familial"	""	"muscle problems"	""	""	""	""	""	""	""	""	""	""	""
"0000082320"	"00198"	"00104388"	"00421"	"Familial"	""	"muscle problems"	""	""	""	""	""	""	""	""	""	""	""
"0000082321"	"00198"	"00104389"	"00421"	"Familial"	""	"muscle problems"	""	""	""	""	""	""	""	""	""	""	""
"0000082322"	"00198"	"00104390"	"00421"	"Familial"	""	"muscle problems"	""	""	""	""	""	""	""	""	""	""	""
"0000082323"	"00198"	"00104391"	"00421"	"Unknown"	""	"muscle problems"	""	""	""	""	""	""	""	""	""	""	""
"0000082324"	"00198"	"00104392"	"00421"	"Familial"	""	"muscle problems"	""	""	""	""	""	""	""	""	""	""	""
"0000082325"	"00198"	"00104393"	"00421"	"Familial"	""	"muscle problems"	""	""	""	""	""	""	""	""	""	""	""
"0000082326"	"00198"	"00104394"	"00421"	"Unknown"	""	"muscle problems"	""	""	""	""	""	""	""	""	""	""	""
"0000082327"	"00198"	"00104395"	"00421"	"Familial"	""	"muscle problems"	""	""	""	""	""	""	""	""	""	""	""
"0000082328"	"00198"	"00104396"	"00421"	"Familial"	""	"muscle problems"	""	""	""	""	""	""	""	""	""	""	""
"0000082329"	"00198"	"00104397"	"00421"	"Familial"	""	"muscle problems"	""	""	""	""	""	""	""	""	""	""	""
"0000082330"	"00198"	"00104398"	"00421"	"Familial"	""	"muscle problems"	""	""	""	""	""	""	""	""	""	""	""
"0000082331"	"00198"	"00104399"	"00421"	"Unknown"	""	"muscle problems"	""	""	""	""	""	""	""	""	""	""	""
"0000082332"	"00198"	"00104400"	"00421"	"Unknown"	""	"muscle problems"	""	""	""	""	""	""	""	""	""	""	""
"0000082333"	"00198"	"00104401"	"00421"	"Unknown"	""	"muscle problems"	""	""	""	""	""	""	""	""	""	""	""
"0000082334"	"00198"	"00104402"	"00421"	"Familial"	""	"muscle problems"	""	""	""	""	""	""	""	""	""	""	""
"0000082335"	"00198"	"00104403"	"00421"	"Familial"	""	"muscle problems"	""	""	""	""	""	""	""	""	""	""	""
"0000082336"	"00198"	"00104404"	"00421"	"Unknown"	""	"muscle problems"	""	""	""	""	""	""	""	""	""	""	""
"0000082337"	"00198"	"00104405"	"00421"	"Familial"	""	"muscle problems"	""	""	""	""	""	""	""	""	""	""	""
"0000082338"	"00198"	"00104406"	"00421"	"Familial"	""	"muscle problems"	""	""	""	""	""	""	""	""	""	""	""
"0000082339"	"00198"	"00104407"	"00421"	"Familial"	""	"muscle problems"	""	""	""	""	""	""	""	""	""	""	""
"0000082340"	"00198"	"00104408"	"00421"	"Unknown"	""	"muscle problems"	""	""	""	""	""	""	""	""	""	""	""
"0000082341"	"00198"	"00104409"	"00421"	"Familial"	""	"muscle problems"	""	""	""	""	""	""	""	""	""	""	""
"0000082342"	"00198"	"00104410"	"00421"	"Unknown"	""	"muscle problems"	""	""	""	""	""	""	""	""	""	""	""
"0000082343"	"02439"	"00104411"	"00490"	"Familial, autosomal recessive"	""	"rigid spine syndrome; 6y-rigid spine, poor head control; CPK normal"	""	""	""	""	""	""	""	""	""	""	""
"0000082344"	"02439"	"00104412"	"00464"	"Unknown"	""	""	""	""	""	""	""	""	""	""	""	""	""
"0000082345"	"02439"	"00104413"	"00464"	"Unknown"	""	""	""	""	""	""	""	""	""	""	""	""	""
"0000082346"	"02439"	"00104414"	"00464"	"Unknown"	""	"mildly atrophic fibers."	""	""	""	""	""	""	""	""	""	""	""
"0000082347"	"02439"	"00104415"	"00402"	"Unknown"	""	"mulitminicore disease (MmD); dystrophy, muscular, rigid spine (RSMD-1)"	""	""	""	""	""	""	""	""	""	""	""
"0000082348"	"02439"	"00104416"	"00402"	"Unknown"	""	"mulitminicore disease (MmD); dystrophy, muscular, rigid spine (RSMD-1)"	""	""	""	""	""	""	""	""	""	""	""
"0000082349"	"02439"	"00104417"	"00402"	"Unknown"	""	"mulitminicore disease (MmD); dystrophy, muscular, rigid spine (RSMD-1)"	""	""	""	""	""	""	""	""	""	""	""
"0000082350"	"02439"	"00104418"	"00402"	"Unknown"	""	"mulitminicore disease/RSMD-1?"	""	""	""	""	""	""	""	""	""	""	""
"0000082351"	"02439"	"00104419"	"00402"	"Unknown"	""	"mulitminicore disease (MmD); dystrophy, muscular, rigid spine (RSMD-1)"	""	""	""	""	""	""	""	""	""	""	""
"0000082352"	"02439"	"00104420"	"00402"	"Unknown"	""	"mulitminicore disease/RSMD-1?"	""	""	""	""	""	""	""	""	""	""	""
"0000082353"	"02439"	"00104421"	"00402"	"Unknown"	""	"mulitminicore disease (MmD); dystrophy, muscular, rigid spine (RSMD-1)"	""	""	""	""	""	""	""	""	""	""	""
"0000082354"	"02439"	"00104422"	"00402"	"Unknown"	""	"mulitminicore disease (MmD); dystrophy, muscular, rigid spine (RSMD-1)"	""	""	""	""	""	""	""	""	""	""	""
"0000082355"	"02439"	"00104423"	"00402"	"Unknown"	""	"mulitminicore disease/RSMD-1?"	""	""	""	""	""	""	""	""	""	""	""
"0000082356"	"02439"	"00104424"	"00402"	"Unknown"	""	"mulitminicore disease/RSMD-1?"	""	""	""	""	""	""	""	""	""	""	""
"0000082357"	"02439"	"00104425"	"00402"	"Unknown"	""	"mulitminicore disease (MmD); dystrophy, muscular, rigid spine (RSMD-1)"	""	""	""	""	""	""	""	""	""	""	""
"0000082358"	"02439"	"00104426"	"00402"	"Unknown"	""	"mulitminicore disease/RSMD-1?"	""	""	""	""	""	""	""	""	""	""	""
"0000082359"	"02439"	"00104427"	"00402"	"Unknown"	""	"mulitminicore disease (MmD); dystrophy, muscular, rigid spine (RSMD-1)"	""	""	""	""	""	""	""	""	""	""	""
"0000082360"	"02439"	"00104428"	"00402"	"Unknown"	""	"mulitminicore disease (MmD); dystrophy, muscular, rigid spine (RSMD-1)"	""	""	""	""	""	""	""	""	""	""	""
"0000082361"	"02439"	"00104429"	"00402"	"Unknown"	""	"mulitminicore disease (MmD); dystrophy, muscular, rigid spine (RSMD-1)"	""	""	""	""	""	""	""	""	""	""	""
"0000082362"	"02439"	"00104430"	"00402"	"Unknown"	""	"mulitminicore disease (MmD); dystrophy, muscular, rigid spine (RSMD-1)"	""	""	""	""	""	""	""	""	""	""	""
"0000082363"	"02439"	"00104431"	"00402"	"Unknown"	""	"mulitminicore disease (MmD); dystrophy, muscular, rigid spine (RSMD-1)"	""	""	""	""	""	""	""	""	""	""	""
"0000082364"	"02439"	"00104432"	"00402"	"Unknown"	""	"mulitminicore disease/RSMD-1?"	""	""	""	""	""	""	""	""	""	""	""
"0000082365"	"02439"	"00104433"	"00402"	"Unknown"	""	"mulitminicore disease/RSMD-1?"	""	""	""	""	""	""	""	""	""	""	""
"0000082366"	"02439"	"00104434"	"00402"	"Unknown"	""	"mulitminicore disease (MmD); dystrophy, muscular, rigid spine (RSMD-1)"	""	""	""	""	""	""	""	""	""	""	""
"0000082367"	"02439"	"00104435"	"00402"	"Unknown"	""	"mulitminicore disease (MmD); dystrophy, muscular, rigid spine (RSMD-1)"	""	""	""	""	""	""	""	""	""	""	""
"0000082368"	"02439"	"00104436"	"00402"	"Unknown"	""	"mulitminicore disease/RSMD-1?"	""	""	""	""	""	""	""	""	""	""	""
"0000082369"	"02439"	"00104437"	"00402"	"Unknown"	""	"mulitminicore disease/RSMD-1?"	""	""	""	""	""	""	""	""	""	""	""
"0000082370"	"02439"	"00104438"	"00402"	"Unknown"	""	"mulitminicore disease/RSMD-1?"	""	""	""	""	""	""	""	""	""	""	""
"0000082371"	"02439"	"00104439"	"00402"	"Unknown"	""	"mulitminicore disease/RSMD-1?"	""	""	""	""	""	""	""	""	""	""	""
"0000082372"	"02439"	"00104440"	"00402"	"Unknown"	""	"mulitminicore disease (MmD); dystrophy, muscular, rigid spine (RSMD-1)"	""	""	""	""	""	""	""	""	""	""	""
"0000082373"	"02439"	"00104441"	"00402"	"Unknown"	""	"mulitminicore disease (MmD); dystrophy, muscular, rigid spine (RSMD-1)"	""	""	""	""	""	""	""	""	""	""	""
"0000082374"	"02439"	"00104442"	"00402"	"Unknown"	""	"mulitminicore disease (MmD); dystrophy, muscular, rigid spine (RSMD-1)"	""	""	""	""	""	""	""	""	""	""	""
"0000082375"	"02439"	"00104443"	"00402"	"Unknown"	""	"mulitminicore disease (MmD); dystrophy, muscular, rigid spine (RSMD-1)"	""	""	""	""	""	""	""	""	""	""	""
"0000082376"	"02439"	"00104444"	"00402"	"Unknown"	""	"mulitminicore disease/RSMD-1?"	""	""	""	""	""	""	""	""	""	""	""
"0000082377"	"02439"	"00104445"	"00402"	"Unknown"	""	"mulitminicore disease/RSMD-1?"	""	""	""	""	""	""	""	""	""	""	""
"0000082378"	"02439"	"00104446"	"00402"	"Familial, autosomal recessive"	"19y"	"nocturnal ventilator, rigid spine; 19y-scoliosis operation, wheelchair user, can walk small distances"	""	""	""	""	""	""	""	""	"RSMD-1"	"mulitminicore disease; dystrophy, muscular, rigid spine"	""
"0000082379"	"02439"	"00104447"	"00402"	"Unknown"	""	"mulitminicore disease/RSMD-1?"	""	""	""	""	""	""	""	""	""	""	""
"0000082380"	"02439"	"00104448"	"00402"	"Unknown"	""	"mulitminicore disease (MmD); dystrophy, muscular, rigid spine (RSMD-1)"	""	""	""	""	""	""	""	""	""	""	""
"0000082381"	"02439"	"00104449"	"00402"	"Unknown"	""	"mulitminicore disease (MmD); dystrophy, muscular, rigid spine (RSMD-1)"	""	""	""	""	""	""	""	""	""	""	""
"0000082382"	"02439"	"00104450"	"00402"	"Unknown"	""	"mulitminicore disease/RSMD-1?"	""	""	""	""	""	""	""	""	""	""	""
"0000082383"	"02439"	"00104451"	"00402"	"Unknown"	""	"mulitminicore disease/RSMD-1?"	""	""	""	""	""	""	""	""	""	""	""
"0000082384"	"02439"	"00104452"	"00402"	"Unknown"	""	"mulitminicore disease/RSMD-1?"	""	""	""	""	""	""	""	""	""	""	""
"0000082385"	"02439"	"00104453"	"00402"	"Unknown"	""	"mulitminicore disease (MmD); dystrophy, muscular, rigid spine (RSMD-1)"	""	""	""	""	""	""	""	""	""	""	""
"0000082386"	"02439"	"00104454"	"00402"	"Unknown"	""	"mulitminicore disease/RSMD-1?"	""	""	""	""	""	""	""	""	""	""	""
"0000082387"	"02439"	"00104455"	"00402"	"Unknown"	""	"mulitminicore disease (MmD); dystrophy, muscular, rigid spine (RSMD-1)"	""	""	""	""	""	""	""	""	""	""	""
"0000082388"	"02439"	"00104456"	"00402"	"Unknown"	""	"mulitminicore disease (MmD); dystrophy, muscular, rigid spine (RSMD-1)"	""	""	""	""	""	""	""	""	""	""	""
"0000082389"	"02439"	"00104457"	"00402"	"Unknown"	""	"mulitminicore disease/RSMD-1?"	""	""	""	""	""	""	""	""	""	""	""
"0000082390"	"02439"	"00104458"	"00402"	"Unknown"	""	"mulitminicore disease (MmD); dystrophy, muscular, rigid spine (RSMD-1)"	""	""	""	""	""	""	""	""	""	""	""
"0000082391"	"02439"	"00104459"	"00464"	"Unknown"	""	"myopathy, lordosis, history of respiratory failure; CPK 154"	""	""	""	""	""	""	""	""	""	""	""
"0000082392"	"00244"	"00104460"	"00464"	"Unknown"	""	"core myopathy"	""	""	""	""	""	""	""	""	""	""	""
"0000082393"	"02439"	"00104461"	"00464"	"Unknown"	""	"progressive proximal weakness."	""	""	""	""	""	""	""	""	""	""	""
"0000082394"	"02439"	"00104462"	"00464"	"Familial, autosomal recessive"	""	"severe respiratory involvement, scoliosis"	""	""	""	""	""	""	""	""	""	""	""
"0000082395"	"00198"	"00104463"	"00430"	"Unknown"	""	""	""	""	""	""	""	""	""	""	""	""	""
"0000082396"	"00198"	"00104464"	"00430"	"Unknown"	""	""	""	""	""	""	""	""	""	""	""	""	""
"0000082397"	"00198"	"00104465"	"00430"	"Unknown"	""	""	""	""	""	""	""	""	""	""	""	""	""
"0000082398"	"00198"	"00104466"	"00430"	"Unknown"	""	""	""	""	""	""	""	""	""	""	""	""	""
"0000082399"	"00198"	"00104467"	"00430"	"Unknown"	""	""	""	""	""	""	""	""	""	""	""	""	""
"0000082400"	"00198"	"00104468"	"00430"	"Unknown"	""	""	""	""	""	""	""	""	""	""	""	""	""
"0000082401"	"00198"	"00104469"	"00430"	"Unknown"	""	""	""	""	""	""	""	""	""	""	""	""	""
"0000082402"	"00198"	"00104470"	"00430"	"Unknown"	""	""	""	""	""	""	""	""	""	""	""	""	""
"0000082403"	"00198"	"00104471"	"00430"	"Unknown"	""	""	""	""	""	""	""	""	""	""	""	""	""
"0000082404"	"00198"	"00104472"	"00430"	"Unknown"	""	""	""	""	""	""	""	""	""	""	""	""	""
"0000082405"	"00198"	"00104473"	"00430"	"Unknown"	""	""	""	""	""	""	""	""	""	""	""	""	""
"0000082406"	"00198"	"00104474"	"00430"	"Unknown"	""	""	""	""	""	""	""	""	""	""	""	""	""
"0000082407"	"00198"	"00104475"	"00430"	"Unknown"	""	""	""	""	""	""	""	""	""	""	""	""	""
"0000082408"	"00198"	"00104476"	"00430"	"Unknown"	""	""	""	""	""	""	""	""	""	""	""	""	""
"0000082409"	"00198"	"00104477"	"00430"	"Unknown"	""	""	""	""	""	""	""	""	""	""	""	""	""
"0000082410"	"00198"	"00104478"	"00430"	"Unknown"	""	""	""	""	""	""	""	""	""	""	""	""	""
"0000082411"	"00198"	"00104479"	"00430"	"Unknown"	""	""	""	""	""	""	""	""	""	""	""	""	""
"0000082412"	"00198"	"00104480"	"00430"	"Unknown"	""	""	""	""	""	""	""	""	""	""	""	""	""
"0000082413"	"00198"	"00104481"	"00430"	"Unknown"	""	""	""	""	""	""	""	""	""	""	""	""	""
"0000082414"	"00198"	"00104482"	"00430"	"Unknown"	""	""	""	""	""	""	""	""	""	""	""	""	""
"0000082415"	"00198"	"00104483"	"00430"	"Unknown"	""	""	""	""	""	""	""	""	""	""	""	""	""
"0000082416"	"00198"	"00104484"	"00430"	"Unknown"	""	""	""	""	""	""	""	""	""	""	""	""	""
"0000082417"	"00198"	"00104485"	"00430"	"Unknown"	""	""	""	""	""	""	""	""	""	""	""	""	""
"0000082418"	"00198"	"00104486"	"00430"	"Unknown"	""	""	""	""	""	""	""	""	""	""	""	""	""
"0000082419"	"00198"	"00104487"	"00430"	"Unknown"	""	""	""	""	""	""	""	""	""	""	""	""	""
"0000082420"	"02439"	"00104488"	"00464"	"Familial, autosomal recessive"	""	""	""	""	""	""	""	""	""	""	""	""	""
"0000082421"	"02439"	"00104489"	"00464"	"Familial, autosomal recessive"	""	""	""	""	""	""	""	""	""	""	""	""	""
"0000082422"	"00244"	"00104490"	"00464"	"Familial, autosomal recessive"	""	""	""	""	""	""	""	""	""	""	""	""	""
"0000082423"	"02439"	"00104491"	"00464"	"Familial, autosomal recessive"	""	"scoliosis, muscle weakness"	""	""	""	""	""	""	""	""	""	""	""
"0000082424"	"00360"	"00104492"	"01973"	"Familial, autosomal recessive"	""	"Rigid spine; CPK 222-1930"	""	""	""	""	""	""	""	""	""	""	""
"0000082425"	"02439"	"00104493"	"00464"	"Familial, autosomal recessive"	""	"childhood onset weakness, significant respiratory involvement"	""	""	""	""	""	""	""	""	""	""	""
"0000082426"	"00244"	"00104494"	"00464"	"Familial, autosomal recessive"	""	"congenital hypotonia and weakness with sparing of ocular muscles, prominent neck weakness, scoliosis, nocturnal BiPAP support."	""	""	""	""	""	""	""	""	""	""	""
"0000156793"	"00198"	"00037015"	"01164"	"Unknown"	""	"suspected Multi-Minicore-Myopathie"	""	""	""	""	""	""	""	""	""	"multi-minicore myopathy?"	""
"0000156794"	"00198"	"00037016"	"01164"	"Unknown"	""	"suspected Multi-Minicore-Myopathie"	""	""	""	""	""	""	""	""	""	"multi-minicore myopathy?"	""
"0000157219"	"00198"	"00208547"	"01164"	"Unknown"	""	"HP:0001761 (Pes cavus)"	""	""	""	""	""	""	""	""	""	""	""
"0000157373"	"00198"	"00208755"	"01164"	"Unknown"	""	"HP:0003198 (Myopathy); HP:0003457 (EMG abnormality)"	""	""	""	""	""	""	""	""	""	""	""
"0000166801"	"02439"	"00218358"	"00006"	"Familial, autosomal recessive"	"07y"	"see paper; delay attainment motor\r\nmilestones since early infancy, reduced muscle bulk, neck stiffness with restriction neck flexion movements, rigid spine, proximal limb-girdle and intercostal weakness, hyperlaxity metacarpophalangeal joints, bilateral shoulder and ankle contractures, with diminished muscle stretch reflexes"	""	""	"low-grade fever, cough followed by shallow breathing efforts and decline in sensorium"	""	""	""	""	""	"RSMD-1"	"collagen VI associated muscular dystrophy"	""
"0000171339"	"00244"	"00183459"	"00006"	"Unknown"	""	"onset young adult, lower limb distal weakness, distal involvement, with steppage, mild-to moderate weakness of trapezius and iliopsoas, mild bulbar involvement, minimal facial weakness; normal CPK (1x), EMG mixed, biopsy core myopathy; atrial fibrillation and flutter, bilateral atrial dilatation, right branch block"	""	""	"lower limb distal weakness"	"DES accumulation"	""	""	""	""	""	"myopathy"	""
"0000199714"	"00198"	"00248144"	"01164"	"Familial, autosomal recessive"	""	"HP:0006829 (muscular hypotonia, severe)"	""	""	""	""	""	""	""	""	""	""	""
"0000203452"	"05126"	"00265665"	"00006"	"Familial, autosomal recessive"	"5y"	"LGMD, paraspinal muscle weakness, lordosis, respiratory failure; elevated CK (182 U/l); biopsy Dystrophic muscle with minicores and type 1 predominence, normal IHC"	""	""	""	""	""	""	""	""	""	"LGMD"	""
"0000209390"	"05121"	"00274447"	"00006"	"Unknown"	""	"proximal muscle weakness, elongated face and winged scapula; muscle myopathic pattern; elevated CK (276 IU/L); ECG or echo normal; no family history"	"1y"	"10y"	""	""	""	""	""	""	""	"muscular dystrophy"	""
"0000209391"	"05121"	"00274448"	"00006"	"Familial, autosomal recessive"	""	"proximal muscle weakness, scoliosis, ankle contracture and respiratory failure; muscle chronic myopathic pattern; CK 66 IU/L; ECG or echo normal; familial"	"3y"	"19y"	""	""	""	""	""	""	""	"muscular dystrophy"	""
"0000222627"	"00360"	"00288992"	"00006"	"Unknown"	""	""	""	""	""	""	""	""	""	""	""	"congenital muscular dystrophy"	""
"0000222930"	"00198"	"00289299"	"01807"	"Unknown"	""	"Muscular dystrophy (HP:0003560)"	""	""	""	""	""	""	""	""	""	""	""
"0000269688"	"00198"	"00374478"	"00006"	"Familial, autosomal recessive"	""	"Delay in attaining motor milestones, floppiness of head and frequent falls suggestive of congenital myopathy"	""	""	""	""	""	""	""	""	""	"myopathy"	""
"0000269690"	"00198"	"00374480"	"00006"	"Familial, autosomal recessive"	""	"Mild motor delay, kyphoscoliosis, hypotonia, hyperreflexia and proximal muscle weakness"	""	""	""	""	""	""	""	""	""	"muscular dystrophy, myopathy"	""
"0000292019"	"00244"	"00398930"	"00006"	"Familial, autosomal recessive"	"5y"	"weakness; 1y6m-walk, run; no ptosis; no ophthalmoplegia; no facial weakness; flexor weakness; proximal weaksness, no distal weakness; scoliosis (no surgery), rigid spine; 6y-no cardiac involvement"	"6m"	""	"weakness"	""	""	""	""	""	""	"congenital myopathy"	""
"0000292020"	"00244"	"00398931"	"00006"	"Familial, autosomal recessive"	"15y"	"weakness; 1y10m-walk; no ptosis; no ophthalmoplegia; no facial weakness; flexor weakness; proximal weaksness, no distal weakness; 13y-nocturnal noninvasive ventilation; scoliosis (15y-surgery), rigid spine; 16y-no cardiac involvement"	"1y6m"	""	"weakness"	""	""	""	""	""	""	"congenital myopathy"	""
"0000292021"	"00244"	"00398932"	"00006"	"Familial, autosomal recessive"	"15y"	"newborn hypotonia; 1y10m-walk; no ptosis; no ophthalmoplegia; no facial weakness; flexor weakness; proximal weaksness, no distal weakness; 14y-nocturnal noninvasive ventilation; scoliosis (13y-surgery), rigid spine; 15y-no cardiac involvement"	"1d"	""	"newborn hypotonia"	""	""	""	""	""	""	"congenital myopathy"	""
"0000292022"	"00244"	"00398933"	"00006"	"Familial, autosomal recessive"	"13y"	"weakness; 1y3m-walk, run; no ptosis; no ophthalmoplegia; no facial weakness; flexor weakness; proximal weaksness, no distal weakness; 7y-nocturnal noninvasive ventilation; 15y-no cardiac involvement"	"1y6m"	""	"weakness"	""	""	""	""	""	""	"congenital myopathy"	""
"0000292023"	"00244"	"00398934"	"00006"	"Familial, autosomal recessive"	"18y"	"weakness; 1y6m-walk, run; no ptosis; no ophthalmoplegia; no facial weakness; flexor weakness; proximal weaksness, no distal weakness; rigid spine; 18y-no cardiac involvement"	"9m"	""	"weakness"	""	""	""	""	""	""	"congenital myopathy"	""
"0000292024"	"00244"	"00398935"	"00006"	"Familial, autosomal recessive"	"12y"	"newborn hypotonia; 3y-walk; no ptosis; no ophthalmoplegia; no facial weakness; flexor weakness; proximal weaksness, no distal weakness; 4y-nocturnal noninvasive ventilation; scoliosis (no surgery), rigid spine; 12y-no cardiac involvement"	"1d"	""	"newborn hypotonia"	""	""	""	""	""	""	"congenital myopathy"	""
"0000292025"	"00244"	"00398936"	"00006"	"Familial, autosomal recessive"	"8y"	"newborn hypotonia; 2y-walk; no ptosis; no ophthalmoplegia; no facial weakness; flexor weakness; proximal weaksness, no distal weakness; 7y-nocturnal noninvasive ventilation; scoliosis (no surgery), rigid spine; 7y-no cardiac involvement"	"1d"	""	"newborn hypotonia"	""	""	""	""	""	""	"congenital myopathy"	""
"0000292123"	"05618"	"00399035"	"00006"	"Unknown"	""	""	""	""	""	""	""	""	""	""	""	"neuromuscular disorder"	""
"0000302689"	"00198"	"00410586"	"00006"	"Familial, autosomal recessive"	""	"see paper; ..., onset adulthood, proximal muscle weakness, myalgia axial musculature, chronic back pain, failed back surgery, dilated cardiomyopathy, no family history"	""	""	""	""	""	""	""	""	"RSMD1"	"dilated cardiomyopathy"	""
"0000321261"	"05618"	"00430464"	"00006"	"Unknown"	"1y"	"congenital hypotonia, hyperCKemia"	""	""	""	""	""	""	""	""	""	"neuromuscular disorder"	""
"0000325275"	"05554"	"00435032"	"01164"	"Familial, autosomal recessive"	"24y"	"Muscular dystrophy, Scoliosis, Scapulohumeral muscular dystrophy, Craniofacial dystonia, 3 of 7 siblings affected"	""	""	""	""	""	""	""	""	""	""	""
"0000328445"	"05121"	"00438542"	"00006"	"Unknown"	"1y"	"congenital hypotonia, hyperCKemia"	""	""	""	""	""	""	""	""	""	"muscular dystrophy/myopathy"	""
"0000328673"	"00244"	"00438775"	"02404"	"Familial, autosomal recessive"	"11y"	"Myopathy"	""	""	""	""	""	""	""	""	""	""	""
"0000332039"	"05618"	"00442692"	"00006"	"Familial, autosomal recessive"	"29y"	"onset childhood; muscle weakness, scoliosis, nocturnal ventilation since 9 yrs of age; muscle biopsy: non-specific findings (three biopsies)"	""	""	""	""	""	""	""	""	""	"Congenital myopathy (fibre type disproportion)"	""
"0000332040"	"05618"	"00442693"	"00006"	"Familial, autosomal recessive"	"41y"	"Proximal myopathy with ptosis, scoliosis and mild distal hyperlaxity, in need of assisted nocturnal ventilation; muscle biopsy: increase in internal nuclei with signs of necrosis and regeneration; EMG: no myasthenic decrement, MRI: not indicative of a specific condition; CK = 300 U/l"	"1d"	""	""	""	""	""	""	""	""	"Ocular, facio-bulbar and limb girdle muscle weakness"	""
"0000332041"	"05618"	"00442694"	"00006"	"Familial, autosomal recessive"	"10y"	"congenital myopathy with mild facial weakness and respiratory insufficiency at birth, hypotonia; muscle biopsy: basophilic fibers, cores, minicores and droplets; CK = 85 U/l, reduced mitochondrial energy production capacity"	"00y00m01d"	""	""	""	""	""	""	""	"CMYP3"	"congenital myasthenic syndrome"	""
"0000332062"	"05618"	"00442715"	"00006"	"Unknown"	""	""	""	""	""	""	""	""	""	""	""	"myopathy, scoliosis"	""
"0000332063"	"05618"	"00442716"	"00006"	"Unknown"	""	""	""	""	""	""	""	""	""	""	""	"Congenital fibretype disproportion"	""
"0000332162"	"05618"	"00442815"	"00006"	"Familial, autosomal recessive"	"16y"	"motor function measurement 20/32 score 0.552; ambulant only with walking aid; respiratory support (predicted forced expiratory volume in first second 0.33,  difference in vital capacity between sitting and supine position -0.35); left ventricular ejection fraction 0.58; QRS fragmentation, incomplete right bundle branch block"	""	""	""	""	""	""	""	""	"CMYP3"	"SEPN1-related myopathy"	""
"0000332163"	"05618"	"00442816"	"00006"	"Familial, autosomal recessive"	"25y"	"motor function measurement 20/32 score 0.771; ambulant; respiratory support (predicted forced expiratory volume in first second 0.37,  difference in vital capacity between sitting and supine position -0.38); left ventricular ejection fraction 0.66; global longitudinal strain -0.19.3;"	""	""	""	""	""	""	""	""	"CMYP3"	"SEPN1-related myopathy"	""
"0000332164"	"05618"	"00442817"	"00006"	"Familial, autosomal recessive"	"3y"	"motor function measurement 20/32 score 0.817; ambulant; no respiratory support; left ventricular ejection fraction 0.66; QRS fragmentation"	""	""	""	""	""	""	""	""	"CMYP3"	"SEPN1-related myopathy"	""
"0000332165"	"05618"	"00442818"	"00006"	"Familial, autosomal recessive"	"21y"	"motor function measurement 20/32 score 0.833; ambulant; no respiratory support (predicted forced expiratory volume in first second 0.41,  difference in vital capacity between sitting and supine position -0.30); left ventricular ejection fraction 0.54; global longitudinal strain -0.17.3; QRS fragmentation"	""	""	""	""	""	""	""	""	"CMYP3"	"SEPN1-related myopathy"	""
"0000332166"	"05618"	"00442819"	"00006"	"Familial, autosomal recessive"	"8y"	"motor function measurement 20/32 score 0.917; ambulant; respiratory support (predicted forced expiratory volume in first second 0.72,  difference in vital capacity between sitting and supine position -0.5); left ventricular ejection fraction 0.69; global longitudinal strain -0.23.2;"	""	""	""	""	""	""	""	""	"CMYP3"	"SEPN1-related myopathy"	""
"0000332167"	"05618"	"00442820"	"00006"	"Familial, autosomal recessive"	"42y"	"motor function measurement 20/32 score 0.760; ambulant; respiratory support (predicted forced expiratory volume in first second 0.32,  difference in vital capacity between sitting and supine position -0.47); left ventricular ejection fraction 0.60; global longitudinal strain -0.15.8; QRS fragmentation; right heart axis"	""	""	""	""	""	""	""	""	"CMYP3"	"SEPN1-related myopathy"	""
"0000332168"	"05618"	"00442821"	"00006"	"Familial, autosomal recessive"	"30y"	"motor function measurement 20/32 score 0.438; not ambulant; respiratory support (predicted forced expiratory volume in first second 0.23,  difference in vital capacity between sitting and supine position -0.43); left ventricular ejection fraction 0.58; global longitudinal strain -0.17.0; QRS fragmentation; incomplete right bundle branch block"	""	""	""	""	""	""	""	""	"CMYP3"	"SEPN1-related myopathy"	""
"0000332169"	"05618"	"00442822"	"00006"	"Familial, autosomal recessive"	"9y"	"motor function measurement 20/32 score 0.771; ambulant; respiratory support (predicted forced expiratory volume in first second 0.58,  difference in vital capacity between sitting and supine position 0. 3); left ventricular ejection fraction 0.57; global longitudinal strain -0.24.3; QRS fragmentation"	""	""	""	""	""	""	""	""	"CMYP3"	"SEPN1-related myopathy"	""
"0000332170"	"05618"	"00442823"	"00006"	"Familial, autosomal recessive"	"13y"	"motor function measurement 20/32 score 0.729; ambulant; respiratory support (predicted forced expiratory volume in first second 0.42,  difference in vital capacity between sitting and supine position -0.10); left ventricular ejection fraction 0.58; global longitudinal strain -0.27.6; QRS fragmentation"	""	""	""	""	""	""	""	""	"CMYP3"	"SEPN1-related myopathy"	""
"0000332171"	"05618"	"00442824"	"00006"	"Familial, autosomal recessive"	"11y"	"motor function measurement 20/32 score 0.750; ambulant; no respiratory support (predicted forced expiratory volume in first second 0.36,  difference in vital capacity between sitting and supine position -0.24); QRS fragmentation"	""	""	""	""	""	""	""	""	"CMYP3"	"SEPN1-related myopathy"	""
"0000332172"	"05618"	"00442825"	"00006"	"Familial, autosomal recessive"	"39y"	"motor function measurement 20/32 score 0.490; ambulant; respiratory support"	""	""	""	""	""	""	""	""	"CMYP3"	"SEPN1-related myopathy"	""
"0000349739"	"05554"	"00462238"	"01164"	"Familial, autosomal recessive"	"22y"	"Myopathy, Proximal muscle weakness, Gowers sign, Restrictive ventilatory defect"	"03y"	""	""	""	""	""	""	""	""	""	""


## Screenings ## Do not remove or alter this header ##
## Count = 348
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"0000037090"	"00037020"	"1"	"01164"	"00008"	"2015-04-02 13:01:39"	""	""	"SEQ"	"DNA"	""	""
"0000037091"	"00037021"	"1"	"01164"	"00008"	"2015-04-02 13:01:39"	""	""	"SEQ"	"DNA"	""	""
"0000037092"	"00037022"	"1"	"01164"	"00008"	"2015-04-02 13:01:39"	""	""	"SEQ"	"DNA"	""	""
"0000054620"	"00054671"	"1"	"01399"	"01399"	"2015-11-08 12:06:11"	""	""	"SEQ"	"DNA"	""	""
"0000104740"	"00104269"	"0"	"00006"	"00006"	"2008-04-19 20:55:52"	"00006"	"2013-02-01 19:44:13"	"SEQ"	"DNA"	""	""
"0000104741"	"00104270"	"0"	"00006"	"00006"	"2008-04-19 20:55:52"	"00006"	"2013-02-01 19:44:13"	"SEQ"	"DNA"	""	""
"0000104742"	"00104271"	"0"	"00006"	"00006"	"2008-09-19 21:01:10"	"00006"	"2012-03-09 19:02:29"	"RT-PCR;SEQ"	"DNA;RNA"	""	""
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"0000104746"	"00104275"	"0"	"00006"	"00006"	"2008-09-19 21:01:10"	"00006"	"2013-02-01 19:44:13"	"SSCA;SEQ"	"DNA"	""	""
"0000104747"	"00104276"	"0"	"00006"	"00006"	"2008-09-19 21:01:10"	"00006"	"2013-02-01 19:44:13"	"SSCA;SEQ"	"DNA"	""	""
"0000104748"	"00104277"	"0"	"00006"	"00006"	"2008-09-19 21:01:10"	"00006"	"2012-03-09 19:02:29"	"SEQ"	"DNA"	""	""
"0000104749"	"00104278"	"0"	"00006"	"00006"	"2008-09-19 21:01:10"	"00006"	"2013-02-01 19:44:13"	"SEQ"	"DNA"	""	""
"0000104750"	"00104279"	"0"	"00006"	"00006"	"2008-09-19 21:01:10"	"00006"	"2013-02-01 19:44:13"	"SSCA;SEQ"	"DNA"	""	""
"0000104751"	"00104280"	"0"	"00006"	"00006"	"2008-09-19 21:01:10"	"00006"	"2013-02-01 19:44:13"	"SSCA;SEQ"	"DNA"	""	""
"0000104752"	"00104281"	"0"	"00006"	"00006"	"2008-09-19 21:01:10"	"00006"	"2012-03-09 18:55:42"	"SEQ"	"DNA"	""	""
"0000104753"	"00104282"	"0"	"00006"	"00006"	"2008-09-19 21:01:10"	"00006"	"2013-02-01 19:44:13"	"SSCA;SEQ"	"DNA"	""	""
"0000104754"	"00104283"	"0"	"00006"	"00006"	"2008-09-19 21:01:10"	"00006"	"2013-02-01 19:44:13"	"SSCA;SEQ"	"DNA"	""	""
"0000104755"	"00104284"	"0"	"00006"	"00006"	"2008-09-19 21:01:10"	"00006"	"2013-02-01 19:44:13"	"SSCA;SEQ"	"DNA"	""	""
"0000104756"	"00104285"	"0"	"00006"	"00006"	"2008-09-19 21:01:10"	"00006"	"2013-02-01 19:44:13"	"RT-PCR;SEQ"	"DNA;RNA"	""	""
"0000104757"	"00104286"	"0"	"00006"	"00006"	"2008-09-19 21:01:10"	"00006"	"2013-02-01 19:44:13"	"RT-PCR;SEQ"	"DNA;RNA"	""	""
"0000104758"	"00104287"	"0"	"00006"	"00006"	"2008-09-19 21:01:10"	"00006"	"2013-02-01 19:44:13"	"RT-PCR;SEQ"	"DNA;RNA"	""	""
"0000104759"	"00104288"	"0"	"00006"	"00006"	"2008-09-19 21:01:10"	"00006"	"2013-02-01 19:44:13"	"RT-PCR;SEQ"	"DNA;RNA"	""	""
"0000104760"	"00104289"	"0"	"00006"	"00006"	"2008-09-19 21:01:10"	"00006"	"2013-02-01 19:44:13"	"RT-PCR;SEQ"	"DNA;RNA"	""	""
"0000104761"	"00104290"	"0"	"00006"	"00006"	"2008-09-19 21:01:10"	"00006"	"2013-02-01 19:44:13"	"SEQ"	"DNA"	""	""
"0000104762"	"00104291"	"0"	"00006"	"00006"	"2008-09-19 21:01:10"	"00006"	"2013-02-01 19:44:13"	"SEQ"	"DNA"	""	""
"0000104763"	"00104292"	"0"	"00006"	"00006"	"2008-09-19 21:01:10"	"00006"	"2013-02-01 19:44:13"	"SEQ"	"DNA"	""	""
"0000104764"	"00104293"	"0"	"00006"	"00006"	"2008-09-19 21:01:10"	"00006"	"2012-03-09 19:02:29"	"RT-PCR;SEQ;SSCA"	"DNA;RNA"	""	""
"0000104765"	"00104294"	"0"	"00006"	"00006"	"2008-09-19 21:01:10"	"00006"	"2012-03-09 18:55:42"	"RT-PCR;SEQ"	"DNA;RNA"	""	""
"0000104766"	"00104295"	"0"	"00006"	"00006"	"2008-09-19 21:01:10"	"00006"	"2012-03-09 19:02:29"	"SSCA;SEQ"	"DNA"	""	""
"0000104767"	"00104296"	"0"	"00006"	"00006"	"2008-09-19 21:01:10"	"00006"	"2012-03-09 18:58:40"	"SSCA;SEQ"	"DNA"	""	""
"0000104768"	"00104297"	"0"	"00006"	"00006"	"2008-09-19 21:01:10"	"00006"	"2012-03-09 18:58:40"	"SSCA;SEQ"	"DNA"	""	""
"0000104769"	"00104298"	"0"	"00006"	"00006"	"2008-09-19 21:01:10"	"00006"	"2012-03-09 18:58:40"	"SSCA;SEQ"	"DNA"	""	""
"0000104770"	"00104299"	"0"	"00006"	"00006"	"2008-09-19 21:01:10"	"00006"	"2012-03-09 18:58:40"	"SSCA;SEQ"	"DNA"	""	""
"0000104771"	"00104300"	"0"	"00006"	"00006"	"2008-09-19 21:01:10"	"00006"	"2012-03-09 18:55:42"	"SSCA;SEQ"	"DNA"	""	""
"0000104772"	"00104301"	"0"	"00006"	"00006"	"2008-09-19 21:01:10"	"00006"	"2012-03-09 19:02:29"	"SSCA;DHPLC;SEQ"	"DNA"	""	""
"0000104773"	"00104302"	"0"	"00006"	"00006"	"2008-09-19 21:01:10"	"00006"	"2012-03-09 18:27:00"	"SSCA;SEQ"	"DNA"	""	""
"0000104774"	"00104303"	"0"	"00006"	"00006"	"2008-09-19 21:01:10"	"00006"	"2012-03-09 19:51:43"	"SSCA;DHPLC;SEQ"	"DNA"	""	""
"0000104775"	"00104304"	"0"	"00006"	"00006"	"2008-09-19 21:01:10"	"00006"	"2012-03-09 18:27:00"	"SSCA;DHPLC;SEQ"	"DNA"	""	""
"0000104776"	"00104305"	"0"	"00006"	"00006"	"2008-09-19 21:01:10"	"00006"	"2012-03-09 18:58:40"	"SSCA;DHPLC;SEQ"	"DNA"	""	""
"0000104777"	"00104306"	"0"	"00006"	"00006"	"2008-09-19 21:01:10"	"00006"	"2017-03-31 14:13:45"	"SSCA;DHPLC;SEQ"	"DNA"	""	""
"0000104778"	"00104307"	"0"	"00006"	"00006"	"2008-09-19 21:01:10"	"00006"	"2017-03-31 14:13:45"	"SSCA;DHPLC;SEQ"	"DNA"	""	""
"0000104779"	"00104308"	"0"	"00006"	"00006"	"2008-09-19 21:01:10"	"00006"	"2012-03-09 19:51:43"	"SSCA;DHPLC;SEQ"	"DNA"	""	""
"0000104780"	"00104309"	"0"	"00006"	"00006"	"2008-09-19 21:01:10"	"00006"	"2012-03-09 18:27:00"	"SSCA;DHPLC;SEQ"	"DNA"	""	""
"0000104781"	"00104310"	"0"	"00006"	"00006"	"2008-09-19 21:01:10"	"00006"	"2012-03-09 18:27:00"	"SSCA;DHPLC;SEQ"	"DNA"	""	""
"0000104782"	"00104311"	"0"	"00006"	"00006"	"2008-09-19 21:01:10"	"00006"	"2012-03-09 18:58:40"	"SSCA;DHPLC;SEQ"	"DNA"	""	""
"0000104783"	"00104312"	"0"	"00006"	"00006"	"2008-09-19 21:01:10"	"00006"	"2012-03-09 18:58:40"	"SSCA;DHPLC;SEQ"	"DNA"	""	""
"0000104784"	"00104313"	"0"	"00006"	"00006"	"2008-09-19 21:01:10"	"00006"	"2012-03-09 18:27:00"	"SSCA;DHPLC;SEQ"	"DNA"	""	""
"0000104785"	"00104314"	"0"	"00006"	"00006"	"2008-09-19 21:01:10"	"00006"	"2012-03-09 18:55:42"	"SEQ"	"DNA"	""	""
"0000104786"	"00104315"	"0"	"00006"	"00006"	"2008-09-19 21:01:10"	"00006"	"2013-02-01 19:44:13"	"SEQ"	"DNA"	""	""
"0000104787"	"00104316"	"0"	"00006"	"00006"	"2008-09-19 21:01:10"	"00006"	"2013-02-01 19:44:13"	"SEQ"	"DNA"	""	""
"0000104788"	"00104317"	"0"	"00006"	"00006"	"2008-09-19 21:01:10"	"00006"	"2013-02-01 19:44:13"	"SSCA;SEQ"	"DNA"	""	""
"0000104789"	"00104318"	"0"	"00006"	"00006"	"2008-09-19 21:01:10"	"00006"	"2013-02-01 19:44:13"	"SSCA;SEQ"	"DNA"	""	""
"0000104790"	"00104319"	"0"	"00006"	"00006"	"2008-09-19 21:01:10"	"00006"	"2013-02-01 19:44:13"	"SSCA;SEQ"	"DNA"	""	""
"0000104791"	"00104320"	"0"	"00006"	"00006"	"2008-09-19 21:01:10"	"00006"	"2013-02-01 19:44:13"	"SSCA;SEQ"	"DNA"	""	""
"0000104792"	"00104321"	"0"	"00006"	"00006"	"2008-09-19 21:01:10"	"00006"	"2013-02-01 19:44:13"	"SEQ"	"DNA"	""	""
"0000104793"	"00104322"	"0"	"00006"	"00006"	"2008-09-19 21:01:10"	"00006"	"2013-02-01 19:44:13"	"SEQ"	"DNA"	""	""
"0000104794"	"00104323"	"0"	"00006"	"00006"	"2008-09-19 21:01:10"	"00006"	"2013-02-01 19:44:13"	"SEQ"	"DNA"	""	""
"0000104795"	"00104324"	"0"	"00464"	"00464"	"2008-10-08 18:06:47"	"00006"	"2012-03-09 19:18:58"	"SEQ"	"DNA"	""	""
"0000104796"	"00104325"	"0"	"00464"	"00464"	"2008-10-08 18:42:21"	"00006"	"2013-02-01 19:44:13"	"SEQ"	"DNA"	""	""
"0000104797"	"00104326"	"0"	"00464"	"00464"	"2008-10-08 18:50:31"	"00006"	"2013-02-01 19:44:13"	"SEQ"	"DNA"	""	""
"0000104798"	"00104327"	"0"	"00464"	"00464"	"2008-10-08 18:56:39"	"00006"	"2013-02-01 19:44:13"	"SEQ"	"DNA"	""	""
"0000104799"	"00104328"	"0"	"00464"	"00464"	"2008-10-08 19:15:49"	"00006"	"2013-02-01 19:44:13"	"SEQ"	"DNA"	""	""
"0000104800"	"00104329"	"0"	"00464"	"00464"	"2008-10-08 19:20:39"	"00006"	"2013-02-01 19:44:13"	"SEQ"	"DNA"	""	""
"0000104801"	"00104330"	"0"	"00464"	"00464"	"2008-10-14 16:45:56"	"00006"	"2013-02-01 19:44:13"	"SEQ"	"DNA"	""	""
"0000104802"	"00104331"	"0"	"00464"	"00464"	"2008-11-07 18:14:04"	"00006"	"2013-02-01 19:44:13"	"SEQ"	"DNA"	""	""
"0000104803"	"00104332"	"0"	"00464"	"00464"	"2008-11-07 18:17:57"	"00006"	"2013-02-01 19:44:13"	"SEQ"	"DNA"	""	""
"0000104804"	"00104333"	"0"	"00464"	"00464"	"2008-11-24 19:59:58"	"00006"	"2013-02-01 19:44:13"	"SEQ"	"DNA"	""	""
"0000104805"	"00104334"	"0"	"00464"	"00464"	"2008-12-05 16:08:37"	"00006"	"2013-02-01 19:44:13"	"SEQ"	"DNA"	""	""
"0000104806"	"00104335"	"0"	"00464"	"00464"	"2008-12-24 15:59:09"	"00006"	"2013-02-01 19:44:13"	"SEQ"	"DNA"	""	""
"0000104807"	"00104336"	"0"	"00402"	"00402"	"2012-01-27 16:07:03"	"00006"	"2013-02-01 19:44:13"	"SEQ"	"DNA"	""	""
"0000104808"	"00104337"	"0"	"00402"	"00402"	"2012-01-27 16:07:03"	"00006"	"2013-02-01 19:44:13"	"SEQ"	"DNA"	""	""
"0000104809"	"00104338"	"0"	"00402"	"00402"	"2012-01-27 16:07:03"	"00006"	"2013-02-01 19:44:13"	"SEQ"	"DNA"	""	""
"0000104810"	"00104339"	"0"	"00402"	"00402"	"2012-01-27 16:07:03"	"00006"	"2013-02-01 19:44:13"	"SEQ"	"DNA"	""	""
"0000104811"	"00104340"	"0"	"00402"	"00402"	"2012-01-27 16:07:03"	"00006"	"2013-02-01 19:44:13"	"SEQ"	"DNA"	""	""
"0000104812"	"00104341"	"0"	"00402"	"00402"	"2012-01-27 16:07:03"	"00006"	"2013-02-01 19:44:13"	"SEQ"	"DNA"	""	""
"0000104813"	"00104342"	"0"	"00402"	"00402"	"2012-01-27 16:07:03"	"00006"	"2013-02-01 19:44:13"	"SEQ"	"DNA"	""	""
"0000104814"	"00104343"	"0"	"00402"	"00402"	"2012-01-27 16:07:03"	"00006"	"2013-02-01 19:44:13"	"SEQ"	"DNA"	""	""
"0000104815"	"00104344"	"0"	"00402"	"00402"	"2012-01-27 16:07:03"	"00006"	"2013-02-01 19:44:13"	"SEQ"	"DNA"	""	""
"0000104816"	"00104345"	"0"	"00464"	"00464"	"2009-02-03 20:35:20"	"00006"	"2013-02-01 19:44:13"	"SEQ"	"DNA"	""	""
"0000104817"	"00104346"	"0"	"00464"	"00464"	"2009-02-16 22:11:16"	"00006"	"2013-02-01 19:44:13"	"SEQ"	"DNA"	""	""
"0000104818"	"00104347"	"0"	"00464"	"00464"	"2009-02-16 22:14:20"	"00006"	"2013-02-01 19:44:13"	"SEQ"	"DNA"	""	""
"0000104819"	"00104348"	"0"	"00006"	"00006"	"2009-02-21 17:28:22"	"00006"	"2013-02-01 19:44:13"	"SEQ"	"DNA"	""	""
"0000104820"	"00104349"	"0"	"00006"	"00006"	"2009-02-21 17:28:22"	"00006"	"2013-02-01 19:44:13"	"SEQ"	"DNA"	""	""
"0000104821"	"00104350"	"0"	"00006"	"00006"	"2009-02-21 17:28:23"	"00006"	"2013-02-01 19:44:13"	"SEQ"	"DNA"	""	""
"0000104822"	"00104351"	"0"	"00006"	"00006"	"2009-02-21 17:28:23"	"00006"	"2013-02-01 19:44:13"	"SEQ"	"DNA"	""	""
"0000104823"	"00104352"	"0"	"00006"	"00006"	"2009-02-21 17:28:23"	"00006"	"2013-02-01 19:44:13"	"SEQ"	"DNA"	""	""
"0000104824"	"00104353"	"0"	"00006"	"00006"	"2009-02-21 17:28:23"	"00006"	"2013-02-01 19:44:13"	"SEQ"	"DNA"	""	""
"0000104825"	"00104354"	"0"	"00006"	"00006"	"2009-02-21 17:28:23"	"00006"	"2013-02-01 19:44:13"	"SEQ"	"DNA"	""	""
"0000104826"	"00104355"	"0"	"00006"	"00006"	"2009-02-21 17:28:23"	"00006"	"2013-02-01 19:44:13"	"SEQ"	"DNA"	""	""
"0000104827"	"00104356"	"0"	"00006"	"00006"	"2009-02-22 18:29:25"	"00006"	"2012-03-09 19:08:25"	"SEQ"	"DNA"	""	""
"0000104828"	"00104357"	"0"	"00006"	"00006"	"2009-02-22 18:29:25"	"00006"	"2012-03-09 19:08:25"	"SEQ"	"DNA"	""	""
"0000104829"	"00104358"	"0"	"00006"	"00006"	"2009-02-22 18:29:25"	"00006"	"2012-03-09 18:27:00"	"SEQ"	"DNA"	""	""
"0000104830"	"00104359"	"0"	"00006"	"00006"	"2009-02-22 18:29:25"	"00006"	"2012-03-09 18:27:00"	"SEQ"	"DNA"	""	""
"0000104831"	"00104360"	"0"	"00006"	"00006"	"2009-02-22 18:29:25"	"00006"	"2012-03-09 18:27:00"	"SEQ"	"DNA"	""	""
"0000104832"	"00104361"	"0"	"00006"	"00006"	"2009-02-22 18:29:25"	"00006"	"2012-03-09 18:27:00"	"SEQ"	"DNA"	""	""
"0000104833"	"00104362"	"0"	"00006"	"00006"	"2009-02-22 18:29:25"	"00006"	"2012-03-09 18:27:00"	"SEQ"	"DNA"	""	""
"0000104834"	"00104363"	"0"	"00006"	"00006"	"2009-02-22 18:29:25"	"00006"	"2012-03-09 18:27:00"	"SEQ"	"DNA"	""	""
"0000104835"	"00104364"	"0"	"00006"	"00006"	"2009-02-22 18:29:25"	"00006"	"2013-02-01 19:44:13"	"SEQ"	"DNA"	""	""
"0000104836"	"00104365"	"0"	"00006"	"00006"	"2009-02-22 18:29:25"	"00006"	"2013-02-01 19:44:13"	"SEQ"	"DNA"	""	""
"0000104837"	"00104366"	"0"	"00006"	"00006"	"2009-02-22 18:29:25"	"00006"	"2013-02-01 19:44:13"	"SEQ"	"DNA"	""	""
"0000104838"	"00104367"	"0"	"00464"	"00464"	"2009-03-13 19:21:47"	"00006"	"2013-02-01 19:44:13"	"SEQ"	"DNA"	""	""
"0000104839"	"00104368"	"0"	"00464"	"00464"	"2009-03-13 19:25:15"	"00006"	"2013-02-01 19:44:13"	"SEQ"	"DNA"	""	""
"0000104840"	"00104369"	"0"	"00464"	"00464"	"2009-03-23 18:12:09"	"00006"	"2013-02-01 19:44:13"	"SEQ"	"DNA"	""	""
"0000104841"	"00104370"	"0"	"00464"	"00464"	"2009-06-04 19:56:20"	"00006"	"2013-02-01 19:44:13"	"SEQ"	"DNA"	""	""
"0000104842"	"00104371"	"0"	"00464"	"00464"	"2009-07-06 18:09:32"	"00006"	"2013-02-01 19:44:13"	"SEQ"	"DNA"	""	""
"0000104843"	"00104372"	"0"	"00464"	"00464"	"2009-10-07 17:20:52"	"00006"	"2013-02-01 19:44:13"	"SEQ"	"DNA"	""	""
"0000104844"	"00104373"	"0"	"00464"	"00464"	"2009-10-23 19:05:34"	"00006"	"2013-02-01 19:44:13"	"SEQ"	"DNA"	""	""
"0000104845"	"00104374"	"0"	"00464"	"00464"	"2010-04-08 17:28:25"	"00006"	"2012-03-09 19:46:27"	"PCR;SEQ"	"DNA"	""	""
"0000104846"	"00104375"	"0"	"00464"	"00464"	"2010-05-03 17:39:22"	"00006"	"2013-02-01 19:44:13"	"PCR;SEQ"	"DNA"	""	""
"0000104847"	"00104376"	"0"	"00490"	"00490"	"2010-06-16 16:28:59"	"00006"	"2012-03-09 19:32:06"	"SEQ"	"DNA"	""	""
"0000104848"	"00104377"	"1"	"03730"	""	"2010-09-02 14:59:17"	"00006"	"2020-07-14 19:15:15"	"SEQ"	"DNA"	""	""
"0000104849"	"00104378"	"0"	"00464"	"00464"	"2010-11-23 21:42:23"	"00006"	"2013-02-01 19:44:13"	"PCR;SEQ"	"DNA"	""	""
"0000104850"	"00104379"	"0"	"00490"	"00490"	"2011-05-02 16:38:34"	"00006"	"2012-03-09 19:32:06"	"SEQ"	"DNA"	""	""
"0000104851"	"00104380"	"0"	"00421"	"00421"	"2011-05-13 17:48:44"	"00006"	"2012-03-09 19:03:40"	"SEQ"	"DNA"	""	""
"0000104852"	"00104381"	"0"	"00421"	"00421"	"2011-05-13 17:48:44"	"00006"	"2012-03-09 19:03:40"	"SEQ"	"DNA"	""	""
"0000104853"	"00104382"	"0"	"00421"	"00421"	"2011-05-13 17:48:44"	"00006"	"2012-03-09 19:03:40"	"SEQ"	"DNA"	""	""
"0000104854"	"00104383"	"0"	"00421"	"00421"	"2011-05-13 17:48:44"	"00006"	"2012-03-09 19:03:40"	"SEQ"	"DNA"	""	""
"0000104855"	"00104384"	"0"	"00421"	"00421"	"2011-05-13 17:48:44"	"00006"	"2012-03-09 19:03:40"	"SEQ"	"DNA"	""	""
"0000104856"	"00104385"	"0"	"00421"	"00421"	"2011-05-13 17:48:44"	"00006"	"2012-03-09 19:03:40"	"SEQ"	"DNA"	""	""
"0000104857"	"00104386"	"0"	"00421"	"00421"	"2011-05-13 17:48:44"	"00006"	"2013-02-01 19:44:13"	"SEQ"	"DNA"	""	""
"0000104858"	"00104387"	"0"	"00421"	"00421"	"2011-05-13 17:48:44"	"00006"	"2012-03-09 19:03:40"	"SEQ"	"DNA"	""	""
"0000104859"	"00104388"	"0"	"00421"	"00421"	"2011-05-13 17:48:44"	"00006"	"2012-03-09 19:03:40"	"SEQ"	"DNA"	""	""
"0000104860"	"00104389"	"0"	"00421"	"00421"	"2011-05-13 17:48:44"	"00006"	"2012-03-09 19:03:40"	"SEQ"	"DNA"	""	""
"0000104861"	"00104390"	"0"	"00421"	"00421"	"2011-05-13 17:48:44"	"00006"	"2012-03-09 19:03:40"	"SEQ"	"DNA"	""	""
"0000104862"	"00104391"	"0"	"00421"	"00421"	"2011-05-13 17:48:44"	"00006"	"2013-02-01 19:44:13"	"SEQ"	"DNA"	""	""
"0000104863"	"00104392"	"0"	"00421"	"00421"	"2011-05-13 17:48:44"	"00006"	"2012-03-09 19:03:40"	"SEQ"	"DNA"	""	""
"0000104864"	"00104393"	"0"	"00421"	"00421"	"2011-05-13 17:48:44"	"00006"	"2012-03-09 19:03:40"	"SEQ"	"DNA"	""	""
"0000104865"	"00104394"	"0"	"00421"	"00421"	"2011-05-13 17:48:44"	"00006"	"2013-02-01 19:44:13"	"SEQ"	"DNA"	""	""
"0000104866"	"00104395"	"0"	"00421"	"00421"	"2011-05-13 17:48:44"	"00006"	"2012-03-09 19:03:40"	"SEQ"	"DNA"	""	""
"0000104867"	"00104396"	"0"	"00421"	"00421"	"2011-05-13 17:48:44"	"00006"	"2012-03-09 19:03:40"	"SEQ"	"DNA"	""	""
"0000104868"	"00104397"	"0"	"00421"	"00421"	"2011-05-13 17:48:44"	"00006"	"2012-03-09 19:03:40"	"SEQ"	"DNA"	""	""
"0000104869"	"00104398"	"0"	"00421"	"00421"	"2011-05-13 17:48:44"	"00006"	"2012-03-09 19:03:40"	"SEQ"	"DNA"	""	""
"0000104870"	"00104399"	"0"	"00421"	"00421"	"2011-05-13 17:48:44"	"00006"	"2013-02-01 19:44:13"	"SEQ"	"DNA"	""	""
"0000104871"	"00104400"	"0"	"00421"	"00421"	"2011-05-13 17:48:44"	"00006"	"2013-02-01 19:44:13"	"SEQ"	"DNA"	""	""
"0000104872"	"00104401"	"0"	"00421"	"00421"	"2011-05-13 17:48:44"	"00006"	"2013-02-01 19:44:13"	"SEQ"	"DNA"	""	""
"0000104873"	"00104402"	"0"	"00421"	"00421"	"2011-05-13 17:48:44"	"00006"	"2012-03-09 19:03:40"	"SEQ"	"DNA"	""	""
"0000104874"	"00104403"	"0"	"00421"	"00421"	"2011-05-13 17:48:44"	"00006"	"2012-03-09 19:03:40"	"SEQ"	"DNA"	""	""
"0000104875"	"00104404"	"0"	"00421"	"00421"	"2011-05-13 17:48:44"	"00006"	"2013-02-01 19:44:13"	"SEQ"	"DNA"	""	""
"0000104876"	"00104405"	"0"	"00421"	"00421"	"2011-05-13 17:48:44"	"00006"	"2012-03-09 19:03:40"	"SEQ"	"DNA"	""	""
"0000104877"	"00104406"	"0"	"00421"	"00421"	"2011-05-13 17:48:44"	"00006"	"2012-03-09 19:03:40"	"SEQ"	"DNA"	""	""
"0000104878"	"00104407"	"0"	"00421"	"00421"	"2011-05-13 17:48:44"	"00006"	"2012-03-09 19:03:40"	"SEQ"	"DNA"	""	""
"0000104879"	"00104408"	"0"	"00421"	"00421"	"2011-05-13 17:48:44"	"00006"	"2013-02-01 19:44:13"	"SEQ"	"DNA"	""	""
"0000104880"	"00104409"	"0"	"00421"	"00421"	"2011-05-13 17:48:44"	"00006"	"2012-03-09 19:03:40"	"SEQ"	"DNA"	""	""
"0000104881"	"00104410"	"0"	"00421"	"00421"	"2011-05-13 17:48:44"	"00006"	"2013-02-01 19:44:13"	"SEQ"	"DNA"	""	""
"0000104882"	"00104411"	"0"	"00490"	"00490"	"2011-08-18 11:24:56"	"00006"	"2012-03-04 15:57:54"	"SEQ"	"DNA"	""	""
"0000104883"	"00104412"	"0"	"00464"	"00464"	"2011-09-02 22:19:21"	"00006"	"2013-02-01 19:44:13"	"PCR;SEQ"	"DNA"	""	""
"0000104884"	"00104413"	"0"	"00464"	"00464"	"2011-09-02 22:22:43"	"00006"	"2013-02-01 19:44:13"	"PCR;SEQ"	"DNA"	""	""
"0000104885"	"00104414"	"0"	"00464"	"00464"	"2011-09-02 22:25:43"	"00006"	"2013-02-01 19:44:13"	"PCR;SEQ"	"DNA"	""	""
"0000104886"	"00104415"	"0"	"00402"	"00402"	"2012-01-27 16:07:03"	"00006"	"2013-02-01 19:44:13"	"SEQ"	"DNA"	""	""
"0000104887"	"00104416"	"0"	"00402"	"00402"	"2012-01-27 16:07:03"	"00006"	"2013-02-01 19:44:13"	"SEQ"	"DNA"	""	""
"0000104888"	"00104417"	"0"	"00402"	"00402"	"2012-01-27 16:07:03"	"00006"	"2013-02-01 19:44:13"	"SEQ"	"DNA"	""	""
"0000104889"	"00104418"	"0"	"00402"	"00402"	"2012-01-27 16:07:03"	"00006"	"2013-02-01 19:44:13"	"SEQ"	"DNA"	""	""
"0000104890"	"00104419"	"0"	"00402"	"00402"	"2012-01-27 16:07:03"	"00006"	"2013-02-01 19:44:13"	"SEQ"	"DNA"	""	""
"0000104891"	"00104420"	"0"	"00402"	"00402"	"2012-01-27 16:07:03"	"00006"	"2013-02-01 19:44:13"	"SEQ"	"DNA"	""	""
"0000104892"	"00104421"	"0"	"00402"	"00402"	"2012-01-27 16:07:03"	"00006"	"2013-02-01 19:44:13"	"SEQ"	"DNA"	""	""
"0000104893"	"00104422"	"0"	"00402"	"00402"	"2012-01-27 16:07:03"	"00006"	"2013-02-01 19:44:13"	"SEQ"	"DNA"	""	""
"0000104894"	"00104423"	"0"	"00402"	"00402"	"2012-01-27 16:07:03"	"00006"	"2013-02-01 19:44:13"	"SEQ"	"DNA"	""	""
"0000104895"	"00104424"	"0"	"00402"	"00402"	"2012-01-27 16:07:03"	"00006"	"2013-02-01 19:44:13"	"SEQ"	"DNA"	""	""
"0000104896"	"00104425"	"0"	"00402"	"00402"	"2012-01-27 16:07:03"	"00006"	"2013-02-01 19:44:13"	"SEQ"	"DNA"	""	""
"0000104897"	"00104426"	"0"	"00402"	"00402"	"2012-01-27 16:07:03"	"00006"	"2013-02-01 19:44:13"	"SEQ"	"DNA"	""	""
"0000104898"	"00104427"	"0"	"00402"	"00402"	"2012-01-27 16:07:03"	"00006"	"2013-02-01 19:44:13"	"SEQ"	"DNA"	""	""
"0000104899"	"00104428"	"0"	"00402"	"00402"	"2012-01-27 16:07:03"	"00006"	"2013-02-01 19:44:13"	"SEQ"	"DNA"	""	""
"0000104900"	"00104429"	"0"	"00402"	"00402"	"2012-01-27 16:07:03"	"00006"	"2013-02-01 19:44:13"	"SEQ"	"DNA"	""	""
"0000104901"	"00104430"	"0"	"00402"	"00402"	"2012-01-27 16:07:03"	"00006"	"2013-02-01 19:44:13"	"SEQ"	"DNA"	""	""
"0000104902"	"00104431"	"0"	"00402"	"00402"	"2012-01-27 16:07:03"	"00006"	"2013-02-01 19:44:13"	"SEQ"	"DNA"	""	""
"0000104903"	"00104432"	"0"	"00402"	"00402"	"2012-01-27 16:07:03"	"00006"	"2013-02-01 19:44:13"	"SEQ"	"DNA"	""	""
"0000104904"	"00104433"	"0"	"00402"	"00402"	"2012-01-27 16:07:03"	"00006"	"2013-02-01 19:44:13"	"SEQ"	"DNA"	""	""
"0000104905"	"00104434"	"0"	"00402"	"00402"	"2012-01-27 16:07:03"	"00006"	"2013-02-01 19:44:13"	"SEQ"	"DNA"	""	""
"0000104906"	"00104435"	"0"	"00402"	"00402"	"2012-01-27 16:07:03"	"00006"	"2013-02-01 19:44:13"	"SEQ"	"DNA"	""	""
"0000104907"	"00104436"	"0"	"00402"	"00402"	"2012-01-27 16:07:03"	"00006"	"2013-02-01 19:44:13"	"SEQ"	"DNA"	""	""
"0000104908"	"00104437"	"0"	"00402"	"00402"	"2012-01-27 16:07:03"	"00006"	"2013-02-01 19:44:13"	"SEQ"	"DNA"	""	""
"0000104909"	"00104438"	"0"	"00402"	"00402"	"2012-01-27 16:07:03"	"00006"	"2013-02-01 19:44:13"	"SEQ"	"DNA"	""	""
"0000104910"	"00104439"	"0"	"00402"	"00402"	"2012-01-27 16:07:03"	"00006"	"2013-02-01 19:44:13"	"SEQ"	"DNA"	""	""
"0000104911"	"00104440"	"0"	"00402"	"00402"	"2012-01-27 16:07:03"	"00006"	"2013-02-01 19:44:13"	"SEQ"	"DNA"	""	""
"0000104912"	"00104441"	"0"	"00402"	"00402"	"2012-01-27 16:07:03"	"00006"	"2013-02-01 19:44:13"	"SEQ"	"DNA"	""	""
"0000104913"	"00104442"	"0"	"00402"	"00402"	"2012-01-27 16:07:03"	"00006"	"2013-02-01 19:44:13"	"SEQ"	"DNA"	""	""
"0000104914"	"00104443"	"0"	"00402"	"00402"	"2012-01-27 16:07:03"	"00006"	"2013-02-01 19:44:13"	"SEQ"	"DNA"	""	""
"0000104915"	"00104444"	"0"	"00402"	"00402"	"2012-01-27 16:07:03"	"00006"	"2013-02-01 19:44:13"	"SEQ"	"DNA"	""	""
"0000104916"	"00104445"	"0"	"00402"	"00402"	"2012-01-27 16:07:03"	"00006"	"2013-02-01 19:44:13"	"SEQ"	"DNA"	""	""
"0000104917"	"00104446"	"0"	"00402"	"00402"	"2012-01-27 16:07:03"	"00006"	"2013-02-01 19:44:13"	"SEQ"	"DNA"	""	""
"0000104918"	"00104447"	"0"	"00402"	"00402"	"2012-01-27 16:07:03"	"00006"	"2013-02-01 19:44:13"	"SEQ"	"DNA"	""	""
"0000104919"	"00104448"	"0"	"00402"	"00402"	"2012-01-27 16:07:03"	"00006"	"2013-02-01 19:44:13"	"SEQ"	"DNA"	""	""
"0000104920"	"00104449"	"0"	"00402"	"00402"	"2012-01-27 16:07:03"	"00006"	"2013-02-01 19:44:13"	"SEQ"	"DNA"	""	""
"0000104921"	"00104450"	"0"	"00402"	"00402"	"2012-01-27 16:07:03"	"00006"	"2013-02-01 19:44:13"	"SEQ"	"DNA"	""	""
"0000104922"	"00104451"	"0"	"00402"	"00402"	"2012-01-27 16:07:03"	"00006"	"2013-02-01 19:44:13"	"SEQ"	"DNA"	""	""
"0000104923"	"00104452"	"0"	"00402"	"00402"	"2012-01-27 16:07:03"	"00006"	"2013-02-01 19:44:13"	"SEQ"	"DNA"	""	""
"0000104924"	"00104453"	"0"	"00402"	"00402"	"2012-01-27 16:07:03"	"00006"	"2013-02-01 19:44:13"	"SEQ"	"DNA"	""	""
"0000104925"	"00104454"	"0"	"00402"	"00402"	"2012-01-27 16:07:03"	"00006"	"2013-02-01 19:44:13"	"SEQ"	"DNA"	""	""
"0000104926"	"00104455"	"0"	"00402"	"00402"	"2012-01-27 16:07:03"	"00006"	"2013-02-01 19:44:13"	"SEQ"	"DNA"	""	""
"0000104927"	"00104456"	"0"	"00402"	"00402"	"2012-01-27 16:07:03"	"00006"	"2013-02-01 19:44:13"	"SEQ"	"DNA"	""	""
"0000104928"	"00104457"	"0"	"00402"	"00402"	"2012-01-27 16:07:03"	"00006"	"2013-02-01 19:44:13"	"SEQ"	"DNA"	""	""
"0000104929"	"00104458"	"0"	"00402"	"00402"	"2012-01-27 16:07:03"	"00006"	"2013-02-01 19:44:13"	"SEQ"	"DNA"	""	""
"0000104930"	"00104459"	"0"	"00464"	"00464"	"2012-02-15 18:16:52"	"00006"	"2013-02-01 19:44:13"	"PCR;SEQ"	"DNA"	""	""
"0000104931"	"00104460"	"0"	"00464"	"00464"	"2012-02-28 20:40:24"	"00006"	"2013-02-01 19:44:13"	"PCR;SEQ"	"DNA"	""	""
"0000104932"	"00104461"	"0"	"00464"	"00464"	"2012-05-23 20:27:37"	"00006"	"2017-05-12 14:47:03"	"PCR;SEQ"	"DNA"	""	""
"0000104933"	"00104462"	"0"	"00464"	"00464"	"2012-10-19 16:58:29"	"00006"	"2012-10-23 21:43:03"	"PCR;SEQ"	"DNA"	""	""
"0000104934"	"00104463"	"0"	"00430"	"00430"	"2012-10-26 15:14:08"	"00006"	"2017-05-12 14:47:03"	"SEQ"	"DNA"	""	""
"0000104935"	"00104464"	"0"	"00430"	"00430"	"2012-10-26 15:14:08"	"00006"	"2017-05-12 14:47:03"	"SEQ"	"DNA"	""	""
"0000104936"	"00104465"	"0"	"00430"	"00430"	"2012-10-26 15:14:08"	"00006"	"2017-05-12 14:47:03"	"SEQ"	"DNA"	""	""
"0000104937"	"00104466"	"0"	"00430"	"00430"	"2012-10-26 15:14:08"	"00006"	"2017-05-12 14:47:03"	"SEQ"	"DNA"	""	""
"0000104938"	"00104467"	"0"	"00430"	"00430"	"2012-10-26 15:14:08"	"00006"	"2017-05-12 14:47:03"	"SEQ"	"DNA"	""	""
"0000104939"	"00104468"	"0"	"00430"	"00430"	"2012-10-26 15:14:08"	"00006"	"2017-05-12 14:47:03"	"SEQ"	"DNA"	""	""
"0000104940"	"00104469"	"0"	"00430"	"00430"	"2012-10-26 15:14:08"	"00006"	"2017-05-12 14:47:03"	"SEQ"	"DNA"	""	""
"0000104941"	"00104470"	"0"	"00430"	"00430"	"2012-10-26 15:14:08"	"00006"	"2017-05-12 14:47:03"	"SEQ"	"DNA"	""	""
"0000104942"	"00104471"	"0"	"00430"	"00430"	"2012-10-26 15:14:08"	"00006"	"2017-05-12 14:47:03"	"SEQ"	"DNA"	""	""
"0000104943"	"00104472"	"0"	"00430"	"00430"	"2012-10-26 15:14:08"	"00006"	"2017-05-12 14:47:03"	"SEQ"	"DNA"	""	""
"0000104944"	"00104473"	"0"	"00430"	"00430"	"2012-10-26 15:14:08"	"00006"	"2017-05-12 14:47:03"	"SEQ"	"DNA"	""	""
"0000104945"	"00104474"	"0"	"00430"	"00430"	"2012-10-26 15:14:08"	"00006"	"2017-05-12 14:47:03"	"SEQ"	"DNA"	""	""
"0000104946"	"00104475"	"0"	"00430"	"00430"	"2012-10-26 15:14:08"	"00006"	"2017-05-12 14:47:03"	"SEQ"	"DNA"	""	""
"0000104947"	"00104476"	"0"	"00430"	"00430"	"2012-10-26 15:14:08"	"00006"	"2017-05-12 14:47:03"	"SEQ"	"DNA"	""	""
"0000104948"	"00104477"	"0"	"00430"	"00430"	"2012-10-26 15:14:08"	"00006"	"2017-05-12 14:47:03"	"SEQ"	"DNA"	""	""
"0000104949"	"00104478"	"0"	"00430"	"00430"	"2012-10-26 15:14:08"	"00006"	"2017-05-12 14:47:03"	"SEQ"	"DNA"	""	""
"0000104950"	"00104479"	"0"	"00430"	"00430"	"2012-10-26 15:14:08"	"00006"	"2017-05-12 14:47:03"	"SEQ"	"DNA"	""	""
"0000104951"	"00104480"	"0"	"00430"	"00430"	"2012-10-26 15:14:08"	"00006"	"2017-05-12 14:47:03"	"SEQ"	"DNA"	""	""
"0000104952"	"00104481"	"0"	"00430"	"00430"	"2012-10-26 15:14:08"	"00006"	"2017-05-12 14:47:03"	"SEQ"	"DNA"	""	""
"0000104953"	"00104482"	"0"	"00430"	"00430"	"2012-10-26 15:14:08"	"00006"	"2017-05-12 14:47:03"	"SEQ"	"DNA"	""	""
"0000104954"	"00104483"	"0"	"00430"	"00430"	"2012-10-26 15:14:08"	"00006"	"2017-05-12 14:47:03"	"SEQ"	"DNA"	""	""
"0000104955"	"00104484"	"0"	"00430"	"00430"	"2012-10-26 15:14:08"	"00006"	"2017-05-12 14:47:03"	"SEQ"	"DNA"	""	""
"0000104956"	"00104485"	"0"	"00430"	"00430"	"2012-10-26 15:14:08"	"00006"	"2017-05-12 14:47:03"	"SEQ"	"DNA"	""	""
"0000104957"	"00104486"	"0"	"00430"	"00430"	"2012-10-26 15:14:08"	"00006"	"2017-05-12 14:47:03"	"SEQ"	"DNA"	""	""
"0000104958"	"00104487"	"0"	"00430"	"00430"	"2012-10-26 15:14:08"	"00006"	"2017-05-12 14:47:03"	"SEQ"	"DNA"	""	""
"0000104959"	"00104488"	"0"	"00464"	"00464"	"2012-11-20 16:36:55"	"00006"	"2012-11-20 20:14:34"	"PCR;SEQ"	"DNA"	""	""
"0000104960"	"00104489"	"0"	"00464"	"00464"	"2013-01-15 21:03:13"	"00006"	"2013-01-17 22:44:41"	"PCR;SEQ"	"DNA"	""	""
"0000104961"	"00104490"	"0"	"00464"	"00464"	"2013-06-10 18:41:23"	"00006"	"2017-05-12 14:47:03"	"PCR;SEQ"	"DNA"	""	""
"0000104962"	"00104491"	"0"	"00464"	"00464"	"2013-07-02 21:53:25"	"00006"	"2013-07-05 14:18:46"	"PCR;SEQ"	"DNA"	""	""
"0000104963"	"00104492"	"0"	"01973"	"01973"	"2014-06-08 14:11:01"	"00006"	"2017-05-12 14:47:03"	"SEQ"	"DNA"	""	""
"0000104964"	"00104493"	"0"	"00464"	"00464"	"2014-06-18 22:01:15"	"00006"	"2014-06-22 12:41:29"	"PCR;SEQ"	"DNA"	""	""
"0000104965"	"00104494"	"0"	"00464"	"00464"	"2014-09-25 20:54:58"	"00006"	"2017-05-12 14:47:03"	"SEQ-NG"	"DNA"	""	""
"0000184427"	"00183459"	"1"	"02947"	"02947"	"2018-10-25 15:44:47"	""	""	"arrayCGH"	"DNA"	""	""
"0000209595"	"00208547"	"1"	"01164"	"01164"	"2018-12-10 11:04:35"	""	""	"SEQ-NG"	"DNA"	""	""
"0000209804"	"00208755"	"1"	"01164"	"01164"	"2018-12-14 14:03:29"	""	""	"SEQ-NG"	"DNA"	""	""
"0000219428"	"00218358"	"1"	"00006"	"00006"	"2019-01-23 22:01:51"	""	""	"SEQ;SEQ-NG"	"DNA"	""	"muscle gene panel"
"0000249249"	"00248144"	"1"	"01164"	"01164"	"2019-07-19 11:43:17"	""	""	"SEQ-NG-S"	"DNA"	""	""
"0000266788"	"00265665"	"1"	"00006"	"00006"	"2019-09-30 11:53:15"	""	""	"SEQ;SEQ-NG"	"DNA"	""	"759-gene panel neurological disorders"
"0000275606"	"00274447"	"1"	"00006"	"00006"	"2019-12-30 09:59:36"	""	""	"SEQ;SEQ-NG"	"DNA"	""	"69-gene panel muscular disorder"
"0000275607"	"00274448"	"1"	"00006"	"00006"	"2019-12-30 09:59:36"	""	""	"SEQ;SEQ-NG"	"DNA"	""	"69-gene panel muscular disorder"
"0000290160"	"00288992"	"1"	"00006"	"00006"	"2020-02-24 21:34:22"	""	""	"SEQ;SEQ-NG"	"DNA"	""	"gene panel"
"0000290469"	"00289299"	"1"	"01807"	"01807"	"2020-03-02 12:27:10"	""	""	"SEQ"	"DNA"	""	""
"0000290972"	"00289804"	"1"	"03575"	"00006"	"2020-03-11 19:30:02"	""	""	"arraySNP"	"DNA"	""	"Infinium Global Screening Array v1.0"
"0000290973"	"00289805"	"1"	"03575"	"00006"	"2020-03-11 19:30:02"	""	""	"arraySNP"	"DNA"	""	"Infinium Global Screening Array v1.0"
"0000290974"	"00289806"	"1"	"03575"	"00006"	"2020-03-11 19:30:02"	""	""	"arraySNP"	"DNA"	""	"Infinium Global Screening Array v1.0"
"0000290975"	"00289807"	"1"	"03575"	"00006"	"2020-03-11 19:30:02"	""	""	"arraySNP"	"DNA"	""	"Infinium Global Screening Array v1.0"
"0000290976"	"00289808"	"1"	"03575"	"00006"	"2020-03-11 19:30:02"	""	""	"arraySNP"	"DNA"	""	"Infinium Global Screening Array v1.0"
"0000290977"	"00289809"	"1"	"03575"	"00006"	"2020-03-11 19:30:02"	""	""	"arraySNP"	"DNA"	""	"Infinium Global Screening Array v1.0"
"0000290978"	"00289810"	"1"	"03575"	"00006"	"2020-03-11 19:30:02"	""	""	"arraySNP"	"DNA"	""	"Infinium Global Screening Array v1.0"
"0000305324"	"00304195"	"1"	"03575"	"00006"	"2020-06-24 11:55:42"	""	""	"arraySNP"	"DNA"	""	"Infinium Global Screening Array v1.0"
"0000315620"	"00314447"	"1"	"00006"	"00006"	"2020-10-12 14:24:44"	""	""	"SEQ;SEQ-NG"	"DNA"	""	"WES"
"0000315621"	"00314448"	"1"	"00006"	"00006"	"2020-10-12 14:24:44"	""	""	"SEQ;SEQ-NG"	"DNA"	""	"WES"
"0000315622"	"00314449"	"1"	"00006"	"00006"	"2020-10-12 14:24:44"	""	""	"SEQ;SEQ-NG"	"DNA"	""	"WES"
"0000321115"	"00319935"	"1"	"00006"	"00006"	"2020-11-11 13:36:15"	""	""	"SEQ"	"DNA"	""	""
"0000321116"	"00319936"	"1"	"00006"	"00006"	"2020-11-11 13:36:15"	""	""	"SEQ"	"DNA"	""	""
"0000321117"	"00319937"	"1"	"00006"	"00006"	"2020-11-11 13:36:15"	""	""	"SEQ"	"DNA"	""	""
"0000321118"	"00319938"	"1"	"00006"	"00006"	"2020-11-11 13:36:15"	""	""	"SEQ"	"DNA"	""	""
"0000321119"	"00319939"	"1"	"00006"	"00006"	"2020-11-11 13:36:15"	""	""	"SEQ"	"DNA"	""	""
"0000321120"	"00319940"	"1"	"00006"	"00006"	"2020-11-11 13:36:15"	""	""	"SEQ"	"DNA"	""	""
"0000321121"	"00319941"	"1"	"00006"	"00006"	"2020-11-11 13:36:15"	""	""	"SEQ"	"DNA"	""	""
"0000321122"	"00319942"	"1"	"00006"	"00006"	"2020-11-11 13:36:15"	""	""	"SEQ"	"DNA"	""	""
"0000321123"	"00319943"	"1"	"00006"	"00006"	"2020-11-11 13:36:15"	""	""	"SEQ"	"DNA"	""	""
"0000321124"	"00319944"	"1"	"00006"	"00006"	"2020-11-11 13:36:15"	""	""	"SEQ"	"DNA"	""	""
"0000321125"	"00319945"	"1"	"00006"	"00006"	"2020-11-11 13:36:15"	""	""	"SEQ"	"DNA"	""	""
"0000321126"	"00319946"	"1"	"00006"	"00006"	"2020-11-11 13:36:15"	""	""	"SEQ"	"DNA"	""	""
"0000321127"	"00319947"	"1"	"00006"	"00006"	"2020-11-11 13:36:15"	""	""	"SEQ"	"DNA"	""	""
"0000321128"	"00319948"	"1"	"00006"	"00006"	"2020-11-11 13:36:15"	""	""	"SEQ"	"DNA"	""	""
"0000321129"	"00319949"	"1"	"00006"	"00006"	"2020-11-11 13:36:15"	""	""	"SEQ"	"DNA"	""	""
"0000321130"	"00319950"	"1"	"00006"	"00006"	"2020-11-11 13:36:15"	""	""	"SEQ"	"DNA"	""	""
"0000321131"	"00319951"	"1"	"00006"	"00006"	"2020-11-11 13:36:15"	""	""	"SEQ"	"DNA"	""	""
"0000321132"	"00319952"	"1"	"00006"	"00006"	"2020-11-11 13:36:15"	""	""	"SEQ"	"DNA"	""	""
"0000321133"	"00319953"	"1"	"00006"	"00006"	"2020-11-11 13:36:15"	""	""	"SEQ"	"DNA"	""	""
"0000321134"	"00319954"	"1"	"00006"	"00006"	"2020-11-11 13:36:15"	""	""	"SEQ"	"DNA"	""	""
"0000321135"	"00319955"	"1"	"00006"	"00006"	"2020-11-11 13:36:15"	""	""	"SEQ"	"DNA"	""	""
"0000321136"	"00319956"	"1"	"00006"	"00006"	"2020-11-11 13:36:15"	""	""	"SEQ"	"DNA"	""	""
"0000321137"	"00319957"	"1"	"00006"	"00006"	"2020-11-11 13:36:15"	""	""	"SEQ"	"DNA"	""	""
"0000321138"	"00319958"	"1"	"00006"	"00006"	"2020-11-11 13:36:15"	""	""	"SEQ"	"DNA"	""	""
"0000321139"	"00319959"	"1"	"00006"	"00006"	"2020-11-11 13:36:15"	""	""	"SEQ"	"DNA"	""	""
"0000321140"	"00319960"	"1"	"00006"	"00006"	"2020-11-11 13:36:15"	""	""	"SEQ"	"DNA"	""	""
"0000321141"	"00319961"	"1"	"00006"	"00006"	"2020-11-11 13:36:15"	""	""	"SEQ"	"DNA"	""	""
"0000321142"	"00319962"	"1"	"00006"	"00006"	"2020-11-11 13:36:15"	""	""	"SEQ"	"DNA"	""	""
"0000321143"	"00319963"	"1"	"00006"	"00006"	"2020-11-11 13:36:15"	""	""	"SEQ"	"DNA"	""	""
"0000321144"	"00319964"	"1"	"00006"	"00006"	"2020-11-11 13:36:15"	""	""	"SEQ"	"DNA"	""	""
"0000321145"	"00319965"	"1"	"00006"	"00006"	"2020-11-11 13:36:15"	""	""	"SEQ"	"DNA"	""	""
"0000321146"	"00319966"	"1"	"00006"	"00006"	"2020-11-11 13:36:15"	""	""	"SEQ"	"DNA"	""	""
"0000321147"	"00319967"	"1"	"00006"	"00006"	"2020-11-11 13:36:15"	""	""	"SEQ"	"DNA"	""	""
"0000321148"	"00319968"	"1"	"00006"	"00006"	"2020-11-11 13:36:15"	""	""	"SEQ"	"DNA"	""	""
"0000321149"	"00319969"	"1"	"00006"	"00006"	"2020-11-11 13:36:15"	""	""	"SEQ"	"DNA"	""	""
"0000321150"	"00319970"	"1"	"00006"	"00006"	"2020-11-11 13:36:15"	""	""	"SEQ"	"DNA"	""	""
"0000321151"	"00319971"	"1"	"00006"	"00006"	"2020-11-11 13:36:15"	""	""	"SEQ"	"DNA"	""	""
"0000321152"	"00319972"	"1"	"00006"	"00006"	"2020-11-11 13:36:15"	""	""	"SEQ"	"DNA"	""	""
"0000321153"	"00319973"	"1"	"00006"	"00006"	"2020-11-11 13:36:15"	""	""	"SEQ"	"DNA"	""	""
"0000321154"	"00319974"	"1"	"00006"	"00006"	"2020-11-11 13:36:15"	""	""	"SEQ"	"DNA"	""	""
"0000321155"	"00319975"	"1"	"00006"	"00006"	"2020-11-11 13:36:15"	""	""	"SEQ"	"DNA"	""	""
"0000321156"	"00319976"	"1"	"00006"	"00006"	"2020-11-11 13:36:15"	""	""	"SEQ"	"DNA"	""	""
"0000321157"	"00319977"	"1"	"00006"	"00006"	"2020-11-11 13:36:15"	""	""	"SEQ"	"DNA"	""	""
"0000321158"	"00319978"	"1"	"00006"	"00006"	"2020-11-11 13:36:15"	""	""	"SEQ"	"DNA"	""	""
"0000321159"	"00319979"	"1"	"00006"	"00006"	"2020-11-11 13:36:15"	""	""	"SEQ"	"DNA"	""	""
"0000321160"	"00319980"	"1"	"00006"	"00006"	"2020-11-11 13:36:15"	""	""	"SEQ"	"DNA"	""	""
"0000321161"	"00319981"	"1"	"00006"	"00006"	"2020-11-11 13:36:15"	""	""	"SEQ"	"DNA"	""	""
"0000321162"	"00319982"	"1"	"00006"	"00006"	"2020-11-11 13:36:15"	""	""	"SEQ"	"DNA"	""	""
"0000321163"	"00319983"	"1"	"00006"	"00006"	"2020-11-11 13:36:15"	""	""	"SEQ"	"DNA"	""	""
"0000321164"	"00319984"	"1"	"00006"	"00006"	"2020-11-11 13:36:15"	""	""	"SEQ"	"DNA"	""	""
"0000321165"	"00319985"	"1"	"00006"	"00006"	"2020-11-11 13:36:15"	""	""	"SEQ"	"DNA"	""	""
"0000321166"	"00319986"	"1"	"00006"	"00006"	"2020-11-11 13:36:15"	""	""	"SEQ"	"DNA"	""	""
"0000321167"	"00319987"	"1"	"00006"	"00006"	"2020-11-11 13:36:15"	""	""	"SEQ"	"DNA"	""	""
"0000321168"	"00319988"	"1"	"00006"	"00006"	"2020-11-11 13:36:15"	""	""	"SEQ"	"DNA"	""	""
"0000321169"	"00319989"	"1"	"00006"	"00006"	"2020-11-11 13:36:15"	""	""	"SEQ"	"DNA"	""	""
"0000321170"	"00319990"	"1"	"00006"	"00006"	"2020-11-11 13:36:15"	""	""	"SEQ"	"DNA"	""	""
"0000321171"	"00319991"	"1"	"00006"	"00006"	"2020-11-11 13:36:15"	""	""	"SEQ"	"DNA"	""	""
"0000321172"	"00319992"	"1"	"00006"	"00006"	"2020-11-11 13:36:15"	""	""	"SEQ"	"DNA"	""	""
"0000330335"	"00329115"	"1"	"03361"	"03361"	"2021-02-04 11:23:09"	""	""	"SEQ-NG-IT"	"DNA"	""	""
"0000375672"	"00374478"	"1"	"00006"	"00006"	"2021-05-24 20:06:48"	""	""	"SEQ-NG"	"DNA"	""	"TruSight One panel"
"0000375674"	"00374480"	"1"	"00006"	"00006"	"2021-05-24 20:06:48"	""	""	"SEQ-NG"	"DNA"	""	"TruSight One panel"
"0000400175"	"00398930"	"1"	"00006"	"00006"	"2022-01-14 16:20:15"	""	""	"SEQ;SEQ-NG"	"DNA"	""	"gene or gene panel"
"0000400176"	"00398931"	"1"	"00006"	"00006"	"2022-01-14 16:20:15"	""	""	"SEQ;SEQ-NG"	"DNA"	""	"gene or gene panel"
"0000400177"	"00398932"	"1"	"00006"	"00006"	"2022-01-14 16:20:15"	""	""	"SEQ;SEQ-NG"	"DNA"	""	"gene or gene panel"
"0000400178"	"00398933"	"1"	"00006"	"00006"	"2022-01-14 16:20:15"	""	""	"SEQ;SEQ-NG"	"DNA"	""	"gene or gene panel"
"0000400179"	"00398934"	"1"	"00006"	"00006"	"2022-01-14 16:20:15"	""	""	"SEQ;SEQ-NG"	"DNA"	""	"gene or gene panel"
"0000400180"	"00398935"	"1"	"00006"	"00006"	"2022-01-14 16:20:15"	""	""	"SEQ;SEQ-NG"	"DNA"	""	"gene or gene panel"
"0000400181"	"00398936"	"1"	"00006"	"00006"	"2022-01-14 16:20:15"	""	""	"SEQ;SEQ-NG"	"DNA"	""	"gene or gene panel"
"0000400280"	"00399035"	"1"	"00006"	"00006"	"2022-01-15 16:40:49"	""	""	"SEQ;SEQ-NG"	"DNA"	""	"166-gene panel"
"0000411851"	"00410586"	"1"	"00006"	"00006"	"2022-05-29 10:39:10"	""	""	"SEQ;SEQ-NG"	"DNA"	""	"WES duo"
"0000431873"	"00430464"	"1"	"00006"	"00006"	"2023-01-20 11:39:52"	""	""	"SEQ;SEQ-NG"	"DNA"	""	"gene panel"
"0000436505"	"00435032"	"1"	"01164"	"01164"	"2023-04-20 17:40:42"	""	""	"SEQ-NG-I"	"DNA"	"blood"	""
"0000440024"	"00438542"	"1"	"00006"	"00006"	"2023-10-21 14:47:26"	""	""	"SEQ;SEQ-NG"	"DNA"	""	"47-gene panel"
"0000440257"	"00438775"	"1"	"02404"	"02404"	"2023-10-24 13:16:09"	""	""	"SEQ-NG-I"	"DNA"	""	"Exome sequencing"
"0000444176"	"00442692"	"1"	"00006"	"00006"	"2023-11-23 18:48:51"	""	""	"SEQ;SEQ-NG"	"DNA"	""	"WES"
"0000444177"	"00442693"	"1"	"00006"	"00006"	"2023-11-23 18:48:51"	""	""	"SEQ;SEQ-NG"	"DNA"	""	"WES"
"0000444178"	"00442694"	"1"	"00006"	"00006"	"2023-11-23 18:48:51"	""	""	"SEQ;SEQ-NG"	"DNA"	""	"WES"
"0000444199"	"00442715"	"1"	"00006"	"00006"	"2023-11-23 18:48:51"	""	""	"SEQ;SEQ-NG"	"DNA"	""	"WES"
"0000444200"	"00442716"	"1"	"00006"	"00006"	"2023-11-23 18:48:51"	""	""	"SEQ;SEQ-NG"	"DNA"	""	"WES"
"0000444299"	"00442815"	"1"	"00006"	"00006"	"2023-11-23 22:55:55"	""	""	"SEQ"	"DNA"	""	""
"0000444300"	"00442816"	"1"	"00006"	"00006"	"2023-11-23 22:55:55"	""	""	"SEQ"	"DNA"	""	""
"0000444301"	"00442817"	"1"	"00006"	"00006"	"2023-11-23 22:55:55"	""	""	"SEQ"	"DNA"	""	""
"0000444302"	"00442818"	"1"	"00006"	"00006"	"2023-11-23 22:55:55"	""	""	"SEQ"	"DNA"	""	""
"0000444303"	"00442819"	"1"	"00006"	"00006"	"2023-11-23 22:55:55"	""	""	"SEQ"	"DNA"	""	""
"0000444304"	"00442820"	"1"	"00006"	"00006"	"2023-11-23 22:55:55"	""	""	"SEQ"	"DNA"	""	""
"0000444305"	"00442821"	"1"	"00006"	"00006"	"2023-11-23 22:55:55"	""	""	"SEQ"	"DNA"	""	""
"0000444306"	"00442822"	"1"	"00006"	"00006"	"2023-11-23 22:55:55"	""	""	"SEQ"	"DNA"	""	""
"0000444307"	"00442823"	"1"	"00006"	"00006"	"2023-11-23 22:55:55"	""	""	"SEQ"	"DNA"	""	""
"0000444308"	"00442824"	"1"	"00006"	"00006"	"2023-11-23 22:55:55"	""	""	"SEQ"	"DNA"	""	""
"0000444309"	"00442825"	"1"	"00006"	"00006"	"2023-11-23 22:55:55"	""	""	"SEQ"	"DNA"	""	""
"0000463870"	"00462238"	"1"	"01164"	"01164"	"2025-02-06 12:38:41"	""	""	"SEQ-NG-I"	"DNA"	"Blood"	""


## Screenings_To_Genes ## Do not remove or alter this header ##
## Count = 318
"{{screeningid}}"	"{{geneid}}"
"0000037084"	"SEPN1"
"0000037085"	"SEPN1"
"0000037086"	"SEPN1"
"0000037087"	"SEPN1"
"0000037088"	"SEPN1"
"0000037089"	"SEPN1"
"0000037090"	"SEPN1"
"0000037091"	"SEPN1"
"0000037092"	"SEPN1"
"0000054620"	"SEPN1"
"0000104740"	"SEPN1"
"0000104741"	"SEPN1"
"0000104742"	"SEPN1"
"0000104743"	"SEPN1"
"0000104744"	"SEPN1"
"0000104745"	"SEPN1"
"0000104746"	"SEPN1"
"0000104747"	"SEPN1"
"0000104748"	"SEPN1"
"0000104749"	"SEPN1"
"0000104750"	"SEPN1"
"0000104751"	"SEPN1"
"0000104752"	"SEPN1"
"0000104753"	"SEPN1"
"0000104754"	"SEPN1"
"0000104755"	"SEPN1"
"0000104756"	"SEPN1"
"0000104757"	"SEPN1"
"0000104758"	"SEPN1"
"0000104759"	"SEPN1"
"0000104760"	"SEPN1"
"0000104761"	"SEPN1"
"0000104762"	"SEPN1"
"0000104763"	"SEPN1"
"0000104764"	"SEPN1"
"0000104765"	"SEPN1"
"0000104766"	"SEPN1"
"0000104767"	"SEPN1"
"0000104768"	"SEPN1"
"0000104769"	"SEPN1"
"0000104770"	"SEPN1"
"0000104771"	"SEPN1"
"0000104772"	"SEPN1"
"0000104773"	"SEPN1"
"0000104774"	"SEPN1"
"0000104775"	"SEPN1"
"0000104776"	"SEPN1"
"0000104777"	"SEPN1"
"0000104778"	"SEPN1"
"0000104779"	"SEPN1"
"0000104780"	"SEPN1"
"0000104781"	"SEPN1"
"0000104782"	"SEPN1"
"0000104783"	"SEPN1"
"0000104784"	"SEPN1"
"0000104785"	"SEPN1"
"0000104786"	"SEPN1"
"0000104787"	"SEPN1"
"0000104788"	"SEPN1"
"0000104789"	"SEPN1"
"0000104790"	"SEPN1"
"0000104791"	"SEPN1"
"0000104792"	"SEPN1"
"0000104793"	"SEPN1"
"0000104794"	"SEPN1"
"0000104795"	"SEPN1"
"0000104796"	"SEPN1"
"0000104797"	"SEPN1"
"0000104798"	"SEPN1"
"0000104799"	"SEPN1"
"0000104800"	"SEPN1"
"0000104801"	"SEPN1"
"0000104802"	"SEPN1"
"0000104803"	"SEPN1"
"0000104804"	"SEPN1"
"0000104805"	"SEPN1"
"0000104806"	"SEPN1"
"0000104807"	"SEPN1"
"0000104808"	"SEPN1"
"0000104809"	"SEPN1"
"0000104810"	"SEPN1"
"0000104811"	"SEPN1"
"0000104812"	"SEPN1"
"0000104813"	"SEPN1"
"0000104814"	"SEPN1"
"0000104815"	"SEPN1"
"0000104816"	"SEPN1"
"0000104817"	"SEPN1"
"0000104818"	"SEPN1"
"0000104819"	"SEPN1"
"0000104820"	"SEPN1"
"0000104821"	"SEPN1"
"0000104822"	"SEPN1"
"0000104823"	"SEPN1"
"0000104824"	"SEPN1"
"0000104825"	"SEPN1"
"0000104826"	"SEPN1"
"0000104827"	"SEPN1"
"0000104828"	"SEPN1"
"0000104829"	"SEPN1"
"0000104830"	"SEPN1"
"0000104831"	"SEPN1"
"0000104832"	"SEPN1"
"0000104833"	"SEPN1"
"0000104834"	"SEPN1"
"0000104835"	"SEPN1"
"0000104836"	"SEPN1"
"0000104837"	"SEPN1"
"0000104838"	"SEPN1"
"0000104839"	"SEPN1"
"0000104840"	"SEPN1"
"0000104841"	"SEPN1"
"0000104842"	"SEPN1"
"0000104843"	"SEPN1"
"0000104844"	"SEPN1"
"0000104845"	"SEPN1"
"0000104846"	"SEPN1"
"0000104847"	"SEPN1"
"0000104848"	"SEPN1"
"0000104849"	"SEPN1"
"0000104850"	"SEPN1"
"0000104851"	"SEPN1"
"0000104852"	"SEPN1"
"0000104853"	"SEPN1"
"0000104854"	"SEPN1"
"0000104855"	"SEPN1"
"0000104856"	"SEPN1"
"0000104857"	"SEPN1"
"0000104858"	"SEPN1"
"0000104859"	"SEPN1"
"0000104860"	"SEPN1"
"0000104861"	"SEPN1"
"0000104862"	"SEPN1"
"0000104863"	"SEPN1"
"0000104864"	"SEPN1"
"0000104865"	"SEPN1"
"0000104866"	"SEPN1"
"0000104867"	"SEPN1"
"0000104868"	"SEPN1"
"0000104869"	"SEPN1"
"0000104870"	"SEPN1"
"0000104871"	"SEPN1"
"0000104872"	"SEPN1"
"0000104873"	"SEPN1"
"0000104874"	"SEPN1"
"0000104875"	"SEPN1"
"0000104876"	"SEPN1"
"0000104877"	"SEPN1"
"0000104878"	"SEPN1"
"0000104879"	"SEPN1"
"0000104880"	"SEPN1"
"0000104881"	"SEPN1"
"0000104882"	"SEPN1"
"0000104883"	"SEPN1"
"0000104884"	"SEPN1"
"0000104885"	"SEPN1"
"0000104886"	"SEPN1"
"0000104887"	"SEPN1"
"0000104888"	"SEPN1"
"0000104889"	"SEPN1"
"0000104890"	"SEPN1"
"0000104891"	"SEPN1"
"0000104892"	"SEPN1"
"0000104893"	"SEPN1"
"0000104894"	"SEPN1"
"0000104895"	"SEPN1"
"0000104896"	"SEPN1"
"0000104897"	"SEPN1"
"0000104898"	"SEPN1"
"0000104899"	"SEPN1"
"0000104900"	"SEPN1"
"0000104901"	"SEPN1"
"0000104902"	"SEPN1"
"0000104903"	"SEPN1"
"0000104904"	"SEPN1"
"0000104905"	"SEPN1"
"0000104906"	"SEPN1"
"0000104907"	"SEPN1"
"0000104908"	"SEPN1"
"0000104909"	"SEPN1"
"0000104910"	"SEPN1"
"0000104911"	"SEPN1"
"0000104912"	"SEPN1"
"0000104913"	"SEPN1"
"0000104914"	"SEPN1"
"0000104915"	"SEPN1"
"0000104916"	"SEPN1"
"0000104917"	"SEPN1"
"0000104918"	"SEPN1"
"0000104919"	"SEPN1"
"0000104920"	"SEPN1"
"0000104921"	"SEPN1"
"0000104922"	"SEPN1"
"0000104923"	"SEPN1"
"0000104924"	"SEPN1"
"0000104925"	"SEPN1"
"0000104926"	"SEPN1"
"0000104927"	"SEPN1"
"0000104928"	"SEPN1"
"0000104929"	"SEPN1"
"0000104930"	"SEPN1"
"0000104931"	"SEPN1"
"0000104932"	"SEPN1"
"0000104933"	"SEPN1"
"0000104934"	"SEPN1"
"0000104935"	"SEPN1"
"0000104936"	"SEPN1"
"0000104937"	"SEPN1"
"0000104938"	"SEPN1"
"0000104939"	"SEPN1"
"0000104940"	"SEPN1"
"0000104941"	"SEPN1"
"0000104942"	"SEPN1"
"0000104943"	"SEPN1"
"0000104944"	"SEPN1"
"0000104945"	"SEPN1"
"0000104946"	"SEPN1"
"0000104947"	"SEPN1"
"0000104948"	"SEPN1"
"0000104949"	"SEPN1"
"0000104950"	"SEPN1"
"0000104951"	"SEPN1"
"0000104952"	"SEPN1"
"0000104953"	"SEPN1"
"0000104954"	"SEPN1"
"0000104955"	"SEPN1"
"0000104956"	"SEPN1"
"0000104957"	"SEPN1"
"0000104958"	"SEPN1"
"0000104959"	"SEPN1"
"0000104960"	"SEPN1"
"0000104961"	"SEPN1"
"0000104962"	"SEPN1"
"0000104963"	"SEPN1"
"0000104964"	"SEPN1"
"0000104965"	"SEPN1"
"0000219428"	"SEPN1"
"0000266788"	"SEPN1"
"0000275606"	"SEPN1"
"0000275607"	"SEPN1"
"0000290160"	"SEPN1"
"0000315620"	"SEPN1"
"0000315621"	"SEPN1"
"0000315622"	"SEPN1"
"0000321115"	"SEPN1"
"0000321116"	"SEPN1"
"0000321117"	"SEPN1"
"0000321118"	"SEPN1"
"0000321119"	"SEPN1"
"0000321120"	"SEPN1"
"0000321121"	"SEPN1"
"0000321122"	"SEPN1"
"0000321123"	"SEPN1"
"0000321124"	"SEPN1"
"0000321125"	"SEPN1"
"0000321126"	"SEPN1"
"0000321127"	"SEPN1"
"0000321128"	"SEPN1"
"0000321129"	"SEPN1"
"0000321130"	"SEPN1"
"0000321131"	"SEPN1"
"0000321132"	"SEPN1"
"0000321133"	"SEPN1"
"0000321134"	"SEPN1"
"0000321135"	"SEPN1"
"0000321136"	"SEPN1"
"0000321137"	"SEPN1"
"0000321138"	"SEPN1"
"0000321139"	"SEPN1"
"0000321140"	"SEPN1"
"0000321141"	"SEPN1"
"0000321142"	"SEPN1"
"0000321143"	"SEPN1"
"0000321144"	"SEPN1"
"0000321145"	"SEPN1"
"0000321146"	"SEPN1"
"0000321147"	"SEPN1"
"0000321148"	"SEPN1"
"0000321149"	"SEPN1"
"0000321150"	"SEPN1"
"0000321151"	"SEPN1"
"0000321152"	"SEPN1"
"0000321153"	"SEPN1"
"0000321154"	"SEPN1"
"0000321155"	"SEPN1"
"0000321156"	"SEPN1"
"0000321157"	"SEPN1"
"0000321158"	"SEPN1"
"0000321159"	"SEPN1"
"0000321160"	"SEPN1"
"0000321161"	"SEPN1"
"0000321162"	"SEPN1"
"0000321163"	"SEPN1"
"0000321164"	"SEPN1"
"0000321165"	"SEPN1"
"0000321166"	"SEPN1"
"0000321167"	"SEPN1"
"0000321168"	"SEPN1"
"0000321169"	"SEPN1"
"0000321170"	"SEPN1"
"0000321171"	"SEPN1"
"0000321172"	"SEPN1"
"0000330335"	"SEPN1"
"0000375672"	"SEPN1"
"0000375674"	"SEPN1"
"0000436505"	"SEPN1"
"0000444299"	"SEPN1"
"0000444300"	"SEPN1"
"0000444301"	"SEPN1"
"0000444302"	"SEPN1"
"0000444303"	"SEPN1"
"0000444304"	"SEPN1"
"0000444305"	"SEPN1"
"0000444306"	"SEPN1"
"0000444307"	"SEPN1"
"0000444308"	"SEPN1"
"0000444309"	"SEPN1"
"0000463870"	"SEPN1"


## 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 = 604
"{{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}}"
"0000064209"	"1"	"10"	"1"	"26140573"	"26140573"	"subst"	"0.786114"	"01164"	"SEPN1_000022"	"g.26140573C>A"	""	""	""	""	""	"Germline"	""	"rs2294228"	"0"	""	""	"g.25814082C>A"	""	"benign"	""
"0000064210"	"1"	"10"	"1"	"26135741"	"26135741"	"subst"	"0"	"01164"	"SEPN1_000121"	"g.26135741C>G"	""	""	""	""	""	"Germline"	""	"rs2280997"	"0"	""	""	"g.25809250C>G"	""	"benign"	""
"0000064211"	"1"	"10"	"1"	"26144674"	"26144674"	"subst"	"0"	"01164"	"SEPN1_000044"	"g.26144674G>A"	""	""	""	""	""	"Germline"	""	"rs6872"	"0"	""	""	"g.25818183G>A"	""	"benign"	""
"0000064212"	"1"	"10"	"1"	"26126680"	"26126680"	"subst"	"0"	"01164"	"SEPN1_000102"	"g.26126680T>C"	""	""	""	""	"also found in controls"	"Germline"	""	"rs12121707"	"0"	""	""	"g.25800189T>C"	""	"benign"	""
"0000064213"	"1"	"50"	"1"	"26140380"	"26140380"	"subst"	"8.13068E-6"	"01164"	"SEPN1_000090"	"g.26140380C>T"	""	""	""	""	"PolyPhen-2: probably damaging (PSIC: 0.987)"	"Germline"	""	""	"0"	""	""	"g.25813889C>T"	""	"VUS"	""
"0000064214"	"1"	"10"	"1"	"26139137"	"26139137"	"subst"	"0.792735"	"01164"	"SEPN1_000108"	"g.26139137C>T"	""	""	""	""	""	"Germline"	""	"rs10902685"	"0"	""	""	"g.25812646C>T"	""	"benign"	""
"0000064215"	"1"	"10"	"1"	"26138262"	"26138262"	"subst"	"0.809566"	"01164"	"SEPN1_000014"	"g.26138262T>C"	""	""	""	""	""	"Germline"	""	"rs760597"	"0"	""	""	"g.25811771T>C"	""	"benign"	""
"0000064216"	"1"	"10"	"1"	"26138136"	"26138136"	"subst"	"0.790175"	"01164"	"SEPN1_000106"	"g.26138136C>A"	""	""	""	""	""	"Germline"	""	"rs760598"	"0"	""	""	"g.25811645C>A"	""	"benign"	""
"0000064217"	"1"	"10"	"1"	"26131654"	"26131654"	"subst"	"0.818081"	"01164"	"SEPN1_000006"	"g.26131654G>A"	""	""	""	""	""	"Germline"	""	"rs7349185"	"0"	""	""	"g.25805163G>A"	""	"benign"	""
"0000084570"	"3"	"90"	"1"	"26140381"	"26140381"	"subst"	"4.87849E-5"	"01399"	"SEPN1_000020"	"g.26140381G>A"	""	"{PMID:O\'Grady 2016:27159402}"	""	""	""	"Germline"	"yes"	""	"0"	""	""	"g.25813890G>A"	""	"pathogenic (recessive)"	""
"0000169790"	"0"	"11"	"1"	"0"	"0"	""	"0"	"00006"	"SEPN1_000000"	"g.?"	""	""	""	""	"no variants 2nd chromosome"	"Germline"	""	""	"0"	""	""	""	""	"benign"	""
"0000169791"	"0"	"11"	"1"	"0"	"0"	""	"0"	"00006"	"SEPN1_000000"	"g.?"	""	""	""	""	"no variants 2nd chromosome"	"Germline"	""	""	"0"	""	""	""	""	"benign"	""
"0000169792"	"11"	"90"	"1"	"26126723"	"26126723"	"dup"	"0"	"00006"	"SEPN1_000004"	"g.26126723dup"	""	"{PMID:Okamoto 2006:16779558}"	""	"1_2insT"	"mRNA level 0.6-0.7; potential secondary translation initiation"	"Germline"	""	""	"0"	""	""	"g.25800232dup"	""	"pathogenic (recessive)"	""
"0000169793"	"21"	"90"	"1"	"26126723"	"26126723"	"dup"	"0"	"00006"	"SEPN1_000004"	"g.26126723dup"	""	"{PMID:Okamoto 2006:16779558}"	""	"1_2insT"	"mRNA level 0.6-0.7; potential secondary translation initiation"	"Germline"	""	""	"0"	""	""	"g.25800232dup"	""	"pathogenic (recessive)"	""
"0000169794"	"3"	"90"	"1"	"26126734"	"26126743"	"dup"	"0"	"00006"	"SEPN1_000003"	"g.26126734_26126743dup"	""	"{PMID:Moghadaszadeh 2001:11528383}"	""	"22dup10"	""	"Germline"	""	""	"0"	""	""	"g.25800243_25800252dup"	""	"pathogenic (recessive)"	""
"0000169796"	"3"	"90"	"1"	"26126734"	"26126743"	"dup"	"0"	"00006"	"SEPN1_000003"	"g.26126734_26126743dup"	""	"{PMID:Moghadaszadeh 2001:11528383}"	""	"22dup10"	""	"Germline"	""	""	"0"	""	""	"g.25800243_25800252dup"	""	"pathogenic (recessive)"	""
"0000169798"	"3"	"90"	"1"	"26135586"	"26135586"	"subst"	"0"	"00006"	"SEPN1_000009"	"g.26135586G>A"	""	"{PMID:Moghadaszadeh 2001:11528383}, {OMIM606210:0001}"	""	"817G>A (G273E); conflicting"	""	"Germline"	""	""	"0"	""	""	"g.25809095G>A"	""	"pathogenic (recessive)"	""
"0000169800"	"3"	"90"	"1"	"26135586"	"26135586"	"subst"	"0"	"00006"	"SEPN1_000009"	"g.26135586G>A"	""	"{PMID:Moghadaszadeh 2001:11528383}, {OMIM606210:0001}"	""	"817G>A (G273E); conflicting"	""	"Germline"	""	""	"0"	""	""	"g.25809095G>A"	""	"pathogenic (recessive)"	""
"0000169802"	"3"	"90"	"1"	"26135586"	"26135586"	"subst"	"0"	"00006"	"SEPN1_000009"	"g.26135586G>A"	""	"{PMID:Moghadaszadeh 2001:11528383}, {OMIM606210:0001}"	""	"817G>A (G273E); conflicting"	""	"Germline"	""	""	"0"	""	""	"g.25809095G>A"	""	"pathogenic (recessive)"	""
"0000169804"	"1"	"90"	"1"	"26135586"	"26135586"	"subst"	"0"	"00006"	"SEPN1_000009"	"g.26135586G>A"	""	"{PMID:D\'Amico 2005:15961312}"	""	""	""	"Germline"	""	""	"0"	""	""	"g.25809095G>A"	""	"pathogenic (recessive)"	""
"0000169805"	"2"	"90"	"1"	"26135586"	"26135586"	"subst"	"0"	"00006"	"SEPN1_000009"	"g.26135586G>A"	""	"{PMID:D\'Amico 2005:15961312}"	""	""	""	"Germline"	""	""	"0"	""	""	"g.25809095G>A"	""	"pathogenic (recessive)"	""
"0000169806"	"1"	"90"	"1"	"26139282"	"26139282"	"subst"	"0"	"00006"	"SEPN1_000019"	"g.26139282A>G"	""	"{PMID:Allamand 2006:16498447}"	""	""	"mRNA level 0.37"	"Germline"	""	""	"0"	""	""	"g.25812791A>G"	""	"pathogenic (recessive)"	""
"0000169807"	"2"	"90"	"1"	"26139282"	"26139282"	"subst"	"0"	"00006"	"SEPN1_000019"	"g.26139282A>G"	""	"{PMID:Allamand 2006:16498447}"	""	""	"mRNA level 0.37"	"Germline"	""	""	"0"	""	""	"g.25812791A>G"	""	"pathogenic (recessive)"	""
"0000169808"	"3"	"90"	"1"	"26135586"	"26135586"	"subst"	"0"	"00006"	"SEPN1_000009"	"g.26135586G>A"	""	"{PMID:Moghadaszadeh 2001:11528383}, {OMIM606210:0001}"	""	"817G>A (G273E); conflicting"	""	"Germline"	""	""	"0"	""	""	"g.25809095G>A"	""	"pathogenic (recessive)"	""
"0000169810"	"3"	"90"	"1"	"26135586"	"26135586"	"subst"	"0"	"00006"	"SEPN1_000009"	"g.26135586G>A"	""	"{PMID:Moghadaszadeh 2001:11528383}, {OMIM606210:0001}"	""	"817G>A (G273E); conflicting"	""	"Germline"	""	""	"0"	""	""	"g.25809095G>A"	""	"pathogenic (recessive)"	""
"0000169812"	"2"	"90"	"1"	"26135246"	"26135246"	"dup"	"0"	"00006"	"SEPN1_000008"	"g.26135246dup"	""	"{PMID:Tajsharghi 2005:15792869}"	""	"713_714insA"	""	"Germline"	""	""	"0"	""	""	"g.25808755dup"	""	"pathogenic (recessive)"	""
"0000169813"	"1"	"90"	"1"	"26139211"	"26139211"	"subst"	"2.86247E-5"	"00006"	"SEPN1_000015"	"g.26139211C>T"	""	"{PMID:Tajsharghi 2005:15792869}"	""	"1370C>T"	""	"Germline"	""	""	"0"	""	""	"g.25812720C>T"	""	"pathogenic (recessive)"	""
"0000169814"	"1"	"90"	"1"	"26136179"	"26136179"	"subst"	"8.12843E-6"	"00006"	"SEPN1_000010"	"g.26136179A>G"	""	"{PMID:Moghadaszadeh 2001:11528383}"	""	""	""	"Germline"	""	""	"0"	""	""	"g.25809688A>G"	""	"pathogenic (recessive)"	""
"0000169815"	"2"	"90"	"1"	"26140381"	"26140381"	"subst"	"4.87849E-5"	"00006"	"SEPN1_000020"	"g.26140381G>A"	""	"{PMID:Moghadaszadeh 2001:11528383}, {OMIM606210:0004}"	""	""	""	"Germline"	""	"rs121908185"	"0"	""	""	"g.25813890G>A"	""	"pathogenic (recessive)"	""
"0000169816"	"3"	"90"	"1"	"26139281"	"26139281"	"subst"	"0"	"00006"	"SEPN1_000018"	"g.26139281G>A"	""	"{PMID:Moghadaszadeh 2001:11528383}, {OMIM606210:0002}"	""	""	""	"Germline"	""	""	"0"	""	""	"g.25812790G>A"	""	"pathogenic (recessive)"	""
"0000169818"	"3"	"90"	"1"	"26140430"	"26140430"	"del"	"0"	"00006"	"SEPN1_000021"	"g.26140430del"	""	"{PMID:Moghadaszadeh 2001:11528383}, {PMID:Allamand 2006:16498447}"	""	"1446delC"	"mRNA level 0.04"	"Germline"	""	""	"0"	""	""	"g.25813939del"	""	"pathogenic (recessive)"	""
"0000169820"	"1"	"90"	"1"	"26136244"	"26136244"	"subst"	"0.000186855"	"00006"	"SEPN1_000011"	"g.26136244G>A"	""	"{PMID:Clarke 2006:16365872}, {OMIM606210:0008}"	"-HaeIII"	""	""	"Germline"	""	"rs121908188"	"0"	""	""	"g.25809753G>A"	""	"pathogenic (recessive)"	""
"0000169821"	"2"	"90"	"1"	"26136244"	"26136244"	"subst"	"0.000186855"	"00006"	"SEPN1_000011"	"g.26136244G>A"	""	"{PMID:Clarke 2006:16365872}, {OMIM606210:0008}"	"-HaeIII"	""	""	"Germline"	""	"rs121908188"	"0"	""	""	"g.25809753G>A"	""	"pathogenic (recessive)"	""
"0000169822"	"1"	"90"	"1"	"26136244"	"26136244"	"subst"	"0.000186855"	"00006"	"SEPN1_000011"	"g.26136244G>A"	""	"{PMID:Clarke 2006:16365872}, {OMIM606210:0008}"	"-HaeIII"	""	""	"Germline"	""	"rs121908188"	"0"	""	""	"g.25809753G>A"	""	"pathogenic (recessive)"	""
"0000169823"	"2"	"90"	"1"	"26136244"	"26136244"	"subst"	"0.000186855"	"00006"	"SEPN1_000011"	"g.26136244G>A"	""	"{PMID:Clarke 2006:16365872}, {OMIM606210:0008}"	"-HaeIII"	""	""	"Germline"	""	"rs121908188"	"0"	""	""	"g.25809753G>A"	""	"pathogenic (recessive)"	""
"0000169824"	"1"	"90"	"1"	"26136244"	"26136244"	"subst"	"0.000186855"	"00006"	"SEPN1_000011"	"g.26136244G>A"	""	"{PMID:Clarke 2006:16365872}, {OMIM606210:0008}"	"-HaeIII"	""	""	"Germline"	""	"rs121908188"	"0"	""	""	"g.25809753G>A"	""	"pathogenic (recessive)"	""
"0000169825"	"2"	"90"	"1"	"26136244"	"26136244"	"subst"	"0.000186855"	"00006"	"SEPN1_000011"	"g.26136244G>A"	""	"{PMID:Clarke 2006:16365872}, {OMIM606210:0008}"	"-HaeIII"	""	""	"Germline"	""	"rs121908188"	"0"	""	""	"g.25809753G>A"	""	"pathogenic (recessive)"	""
"0000169826"	"1"	"90"	"1"	"26136244"	"26136244"	"subst"	"0.000186855"	"00006"	"SEPN1_000011"	"g.26136244G>A"	""	"{PMID:Clarke 2006:16365872}, {OMIM606210:0008}"	"-HaeIII"	""	""	"Germline"	""	"rs121908188"	"0"	""	""	"g.25809753G>A"	""	"pathogenic (recessive)"	""
"0000169827"	"2"	"90"	"1"	"26136244"	"26136244"	"subst"	"0.000186855"	"00006"	"SEPN1_000011"	"g.26136244G>A"	""	"{PMID:Clarke 2006:16365872}, {OMIM606210:0008}"	"-HaeIII"	""	""	"Germline"	""	"rs121908188"	"0"	""	""	"g.25809753G>A"	""	"pathogenic (recessive)"	""
"0000169828"	"1"	"90"	"1"	"26136244"	"26136244"	"subst"	"0.000186855"	"00006"	"SEPN1_000011"	"g.26136244G>A"	""	"{PMID:Clarke 2006:16365872}, {OMIM606210:0008}"	"-HaeIII"	""	""	"Germline"	""	"rs121908188"	"0"	""	""	"g.25809753G>A"	""	"pathogenic (recessive)"	""
"0000169829"	"2"	"90"	"1"	"26136244"	"26136244"	"subst"	"0.000186855"	"00006"	"SEPN1_000011"	"g.26136244G>A"	""	"{PMID:Clarke 2006:16365872}, {OMIM606210:0008}"	"-HaeIII"	""	""	"Germline"	""	"rs121908188"	"0"	""	""	"g.25809753G>A"	""	"pathogenic (recessive)"	""
"0000169830"	"1"	"90"	"1"	"26126711"	"26126802"	"del"	"0"	"00006"	"SEPN1_000001"	"g.26126711_26126802del"	""	"{PMID:Clarke 2006:16365872}"	""	"-19_73del"	""	"Germline"	""	""	"0"	""	""	"g.25800220_25800311del"	""	"pathogenic (recessive)"	""
"0000169831"	"2"	"90"	"1"	"26126722"	"26126722"	"subst"	"0"	"00006"	"SEPN1_000002"	"g.26126722A>G"	""	"{PMID:Clarke 2006:16365872}"	""	""	""	"Germline"	""	"rs121908184"	"0"	""	""	"g.25800231A>G"	""	"pathogenic (recessive)"	""
"0000169832"	"1"	"90"	"1"	"26136179"	"26136179"	"subst"	"8.12843E-6"	"00006"	"SEPN1_000010"	"g.26136179A>G"	""	"{PMID:Clarke 2006:16365872}"	""	""	""	"Germline"	""	""	"0"	""	""	"g.25809688A>G"	""	"pathogenic (recessive)"	""
"0000169833"	"2"	"90"	"1"	"26142037"	"26142037"	"subst"	"0"	"00006"	"SEPN1_000024"	"g.26142037A>G"	""	"{PMID:Clarke 2006:16365872}"	""	"IVS13-2A>G"	""	"Germline"	""	""	"0"	""	""	"g.25815546A>G"	""	"pathogenic (recessive)"	""
"0000169834"	"3"	"90"	"1"	"26126744"	"26126753"	"dup"	"0"	"00006"	"SEPN1_000038"	"g.26126744_26126753dup"	""	"{PMID:Clarke 2006:16365872}"	""	"23_32dup10"	"variant identical to 13_22dup10?"	"Germline"	""	""	"0"	""	""	"g.25800253_25800262dup"	""	"pathogenic (recessive)"	""
"0000169836"	"1"	"90"	"1"	"26143316"	"26143316"	"subst"	"0"	"00006"	"SEPN1_000023"	"g.26143316T>C"	""	"{PMID:Allamand 2006:16498447}"	""	"g.17195C>T"	"mRNA level 0.25; affects SECIS element"	"Germline"	""	""	"0"	""	""	"g.25816825T>C"	""	"pathogenic (recessive)"	""
"0000169837"	"2"	"90"	"1"	"26143316"	"26143316"	"subst"	"0"	"00006"	"SEPN1_000023"	"g.26143316T>C"	""	"{PMID:Allamand 2006:16498447}"	""	"g.17195C>T"	"mRNA level 0.25; affects SECIS element"	"Germline"	""	""	"0"	""	""	"g.25816825T>C"	""	"pathogenic (recessive)"	""
"0000169838"	"11"	"90"	"1"	"26126781"	"26126800"	"dup"	"0"	"00006"	"SEPN1_000005"	"g.26126781_26126800dup"	""	"{PMID:Okamoto 2006:16779558}"	""	""	"mRNA level 0.3; potential secondary translation initiation"	"Germline"	""	""	"0"	""	""	"g.25800290_25800309dup"	""	"pathogenic (recessive)"	""
"0000169839"	"21"	"90"	"1"	"26126781"	"26126800"	"dup"	"0"	"00006"	"SEPN1_000005"	"g.26126781_26126800dup"	""	"{PMID:Okamoto 2006:16779558}"	""	""	"mRNA level 0.3; potential secondary translation initiation"	"Germline"	""	""	"0"	""	""	"g.25800290_25800309dup"	""	"pathogenic (recessive)"	""
"0000169840"	"3"	"90"	"1"	"26126734"	"26126743"	"dup"	"0"	"00006"	"SEPN1_000003"	"g.26126734_26126743dup"	""	"{PMID:Ferreiro 2002:12192640}, {PMID:Allamand 2006:16498447}"	""	"22dup10"	""	"Germline"	""	""	"0"	""	""	"g.25800243_25800252dup"	""	"pathogenic (recessive)"	""
"0000169842"	"3"	"90"	"1"	"26126722"	"26126722"	"subst"	"0"	"00006"	"SEPN1_000002"	"g.26126722A>G"	""	"{PMID:Ferreiro 2002:12192640}, {OMIM606210:0003}, {PMID:Allamand 2006:16498447}"	""	""	"mRNA level near normal"	"Germline"	""	"rs121908184"	"0"	""	""	"g.25800231A>G"	""	"pathogenic (recessive)"	""
"0000169844"	"3"	"90"	"1"	"26126722"	"26126722"	"subst"	"0"	"00006"	"SEPN1_000002"	"g.26126722A>G"	""	"{PMID:Ferreiro 2002:12192640}, {OMIM606210:0003}, {PMID:Allamand 2006:16498447}"	""	""	""	"Germline"	""	"rs121908184"	"0"	""	""	"g.25800231A>G"	""	"pathogenic (recessive)"	""
"0000169846"	"3"	"90"	"1"	"26126722"	"26126722"	"subst"	"0"	"00006"	"SEPN1_000002"	"g.26126722A>G"	""	"{PMID:Ferreiro 2002:12192640}, {OMIM606210:0003}, {PMID:Allamand 2006:16498447}"	""	""	""	"Germline"	""	"rs121908184"	"0"	""	""	"g.25800231A>G"	""	"pathogenic (recessive)"	""
"0000169848"	"3"	"90"	"1"	"26126722"	"26126722"	"subst"	"0"	"00006"	"SEPN1_000002"	"g.26126722A>G"	""	"{PMID:Ferreiro 2002:12192640}, {OMIM606210:0003}, {PMID:Allamand 2006:16498447}"	""	""	""	"Germline"	""	"rs121908184"	"0"	""	""	"g.25800231A>G"	""	"pathogenic (recessive)"	""
"0000169850"	"3"	"90"	"1"	"26136244"	"26136244"	"subst"	"0.000186855"	"00006"	"SEPN1_000011"	"g.26136244G>A"	""	"{PMID:Ferreiro 2004:15122708}"	""	""	""	"Germline"	""	"rs121908188"	"0"	""	""	"g.25809753G>A"	""	"pathogenic (recessive)"	""
"0000169852"	"3"	"90"	"1"	"26135246"	"26135246"	"dup"	"0"	"00006"	"SEPN1_000008"	"g.26135246dup"	""	"{PMID:Ferreiro 2002:12192640}, {OMIM606210:0006}, {PMID:Allamand 2006:16498447}"	""	"713-714insA"	""	"Germline"	""	""	"0"	""	""	"g.25808755dup"	""	"pathogenic (recessive)"	""
"0000169854"	"3"	"90"	"1"	"26126711"	"26126802"	"del"	"0"	"00006"	"SEPN1_000001"	"g.26126711_26126802del"	""	"{PMID:Ferreiro 2004:15122708}"	""	"-19_73del"	"linked to 1p36"	"Germline"	""	""	"0"	""	""	"g.25800220_25800311del"	""	"pathogenic (recessive)"	""
"0000169856"	"11"	"90"	"1"	"26135246"	"26135246"	"dup"	"0"	"00006"	"SEPN1_000008"	"g.26135246dup"	""	"{PMID:Ferreiro 2002:12192640}, {OMIM606210:0006}"	""	"713-714insA"	""	"Germline"	""	""	"0"	""	""	"g.25808755dup"	""	"pathogenic (recessive)"	""
"0000169857"	"21"	"90"	"1"	"26140381"	"26140381"	"subst"	"4.87849E-5"	"00006"	"SEPN1_000020"	"g.26140381G>A"	""	"{PMID:Ferreiro 2002:12192640}, {OMIM606210:0004}"	""	""	""	"Germline"	""	"rs121908185"	"0"	""	""	"g.25813890G>A"	""	"pathogenic (recessive)"	""
"0000169858"	"3"	"90"	"1"	"26136244"	"26136244"	"subst"	"0.000186855"	"00006"	"SEPN1_000011"	"g.26136244G>A"	""	"{PMID:Ferreiro 2002:12192640}, {OMIM606210:0008}"	""	""	""	"Germline"	""	"rs121908188"	"0"	""	""	"g.25809753G>A"	""	"pathogenic (recessive)"	""
"0000169860"	"3"	"90"	"1"	"26136244"	"26136244"	"subst"	"0.000186855"	"00006"	"SEPN1_000011"	"g.26136244G>A"	""	"{PMID:Ferreiro 2002:12192640}, {OMIM606210:0008}"	""	""	""	"Germline"	""	"rs121908188"	"0"	""	""	"g.25809753G>A"	""	"pathogenic (recessive)"	""
"0000169862"	"3"	"90"	"1"	"26136244"	"26136244"	"subst"	"0.000186855"	"00006"	"SEPN1_000011"	"g.26136244G>A"	""	"{PMID:Ferreiro 2002:12192640}, {OMIM606210:0008}"	""	""	""	"Germline"	""	"rs121908188"	"0"	""	""	"g.25809753G>A"	""	"pathogenic (recessive)"	""
"0000169864"	"3"	"90"	"1"	"26136244"	"26136244"	"subst"	"0.000186855"	"00006"	"SEPN1_000011"	"g.26136244G>A"	""	"{PMID:Ferreiro 2002:12192640}, {OMIM606210:0008}"	""	""	""	"Germline"	""	"rs121908188"	"0"	""	""	"g.25809753G>A"	""	"pathogenic (recessive)"	""
"0000169866"	"11"	"90"	"1"	"26136244"	"26136244"	"subst"	"0.000186855"	"00006"	"SEPN1_000011"	"g.26136244G>A"	""	"{PMID:Ferreiro 2002:12192640}, {OMIM606210:0008}"	""	""	""	"Germline"	""	"rs121908188"	"0"	""	""	"g.25809753G>A"	""	"pathogenic (recessive)"	""
"0000169867"	"21"	"90"	"1"	"26140381"	"26140381"	"subst"	"4.87849E-5"	"00006"	"SEPN1_000020"	"g.26140381G>A"	""	"{PMID:Ferreiro 2002:12192640}, {OMIM606210:0004}"	""	""	""	"Germline"	""	"rs121908185"	"0"	""	""	"g.25813890G>A"	""	"pathogenic (recessive)"	""
"0000169868"	"11"	"90"	"1"	"26136179"	"26136179"	"subst"	"8.12843E-6"	"00006"	"SEPN1_000010"	"g.26136179A>G"	""	"{PMID:Ferreiro 2002:12192640}"	""	""	""	"Germline"	""	""	"0"	""	""	"g.25809688A>G"	""	"pathogenic (recessive)"	""
"0000169869"	"21"	"90"	"1"	"26137953"	"26137953"	"subst"	"0"	"00006"	"SEPN1_000013"	"g.26137953A>T"	""	"{PMID:Ferreiro 2002:12192640}"	""	""	""	"Germline"	""	""	"0"	""	""	"g.25811462A>T"	""	"pathogenic (recessive)"	""
"0000169870"	"11"	"90"	"1"	"26136179"	"26136179"	"subst"	"8.12843E-6"	"00006"	"SEPN1_000010"	"g.26136179A>G"	""	"{PMID:Ferreiro 2002:12192640}"	""	""	""	"Germline"	""	""	"0"	""	""	"g.25809688A>G"	""	"pathogenic (recessive)"	""
"0000169871"	"21"	"90"	"1"	"26137953"	"26137953"	"subst"	"0"	"00006"	"SEPN1_000013"	"g.26137953A>T"	""	"{PMID:Ferreiro 2002:12192640}"	""	""	""	"Germline"	""	""	"0"	""	""	"g.25811462A>T"	""	"pathogenic (recessive)"	""
"0000169872"	"3"	"90"	"1"	"26139280"	"26139280"	"subst"	"0"	"00006"	"SEPN1_000017"	"g.26139280T>G"	""	"{PMID:Ferreiro 2002:12192640}, {OMIM606210:0007}"	""	""	""	"Germline"	""	""	"0"	""	""	"g.25812789T>G"	""	"pathogenic (recessive)"	""
"0000169874"	"3"	"90"	"1"	"26139280"	"26139280"	"subst"	"0"	"00006"	"SEPN1_000017"	"g.26139280T>G"	""	"{PMID:Ferreiro 2002:12192640}, {OMIM606210:0007}"	""	""	""	"Germline"	""	""	"0"	""	""	"g.25812789T>G"	""	"pathogenic (recessive)"	""
"0000169876"	"11"	"90"	"1"	"26139254"	"26139254"	"subst"	"4.09142E-6"	"00006"	"SEPN1_000016"	"g.26139254G>C"	""	"{PMID:Ferreiro 2002:12192640}, {OMIM606210:0005}"	""	""	""	"Germline"	""	"rs121908186"	"0"	""	""	"g.25812763G>C"	""	"pathogenic (recessive)"	""
"0000169877"	"21"	"90"	"1"	"26140381"	"26140381"	"subst"	"4.87849E-5"	"00006"	"SEPN1_000020"	"g.26140381G>A"	""	"{PMID:Ferreiro 2002:12192640}, {OMIM606210:0004}"	""	""	""	"Germline"	""	"rs121908185"	"0"	""	""	"g.25813890G>A"	""	"pathogenic (recessive)"	""
"0000169878"	"10"	"90"	"1"	"26136244"	"26136244"	"subst"	"0.000186855"	"00006"	"SEPN1_000011"	"g.26136244G>A"	""	"{PMID:Venance 2005:15668457}, {OMIM606210:0008}"	""	""	""	"Germline"	""	"rs121908188"	"0"	""	""	"g.25809753G>A"	""	"pathogenic (recessive)"	""
"0000169879"	"21"	"90"	"1"	"26136244"	"26136244"	"subst"	"0.000186855"	"00006"	"SEPN1_000011"	"g.26136244G>A"	""	"{PMID:Venance 2005:15668457}, {OMIM606210:0008}"	""	""	""	"Germline"	""	"rs121908188"	"0"	""	""	"g.25809753G>A"	""	"pathogenic (recessive)"	""
"0000169880"	"0"	"90"	"1"	"26126723"	"26126723"	"dup"	"0"	"00006"	"SEPN1_000004"	"g.26126723dup"	"0/100"	"{PMID:Okamoto 2006:16779558}"	""	"1_2insT"	""	"Germline"	""	""	"0"	""	""	"g.25800232dup"	""	"pathogenic"	""
"0000169881"	"0"	"90"	"1"	"26126781"	"26126800"	"dup"	"0"	"00006"	"SEPN1_000005"	"g.26126781_26126800dup"	"0/100"	"{PMID:Okamoto 2006:16779558}"	""	""	""	"Germline"	""	""	"0"	""	""	"g.25800290_25800309dup"	""	"pathogenic"	""
"0000169882"	"0"	"10"	"1"	"26131654"	"26131654"	"subst"	"0.818081"	"00006"	"SEPN1_000006"	"g.26131654G>A"	"279/340"	"{PMID:Allamand 2006:16498447}"	""	"425A>G (Y142C)"	"control chromosomes"	"Germline"	""	"rs7349185"	"0"	""	""	"g.25805163G>A"	""	"benign"	""
"0000169883"	"0"	"10"	"1"	"26136282"	"26136282"	"subst"	"0.0255976"	"00006"	"SEPN1_000012"	"g.26136282C>T"	"10/340"	"{PMID:Allamand 2006:16498447}"	""	"(R327R)"	"control chromosomes"	"Germline"	""	""	"0"	""	""	"g.25809791C>T"	""	"benign"	""
"0000169884"	"0"	"10"	"1"	"26138262"	"26138262"	"subst"	"0.809566"	"00006"	"SEPN1_000014"	"g.26138262T>C"	"262/340"	"{PMID:Ferreiro 2004:15122708}, {OMIM606210:0009}"	""	"1173C>T (P391P)"	"340 control chromosomes"	"Germline"	""	"rs760597"	"0"	""	""	"g.25811771T>C"	""	"benign"	""
"0000169885"	"0"	"10"	"1"	"26140573"	"26140573"	"subst"	"0.786114"	"00006"	"SEPN1_000022"	"g.26140573C>A"	"262/340"	"{PMID:Allamand 2006:16498447}"	""	"1506A>C (K502N)"	"control chromosomes"	"Germline"	""	"rs2294228"	"0"	""	""	"g.25814082C>A"	""	"benign"	""
"0000169886"	"0"	"10"	"1"	"26135116"	"26135116"	"subst"	"0.00996831"	"00006"	"SEPN1_000007"	"g.26135116G>A"	"1/22"	"{PMID:Tajsharghi 2005:15792869}"	""	"A195T"	""	"Germline"	""	"rs115852080"	"0"	""	""	"g.25808625G>A"	""	"benign"	""
"0000169887"	"0"	"10"	"1"	"26140573"	"26140573"	"subst"	"0.786114"	"00006"	"SEPN1_000022"	"g.26140573C>A"	"16/22"	"{PMID:Tajsharghi 2005:15792869}"	""	"K502N"	""	"Germline"	""	"rs2294228"	"0"	""	""	"g.25814082C>A"	""	"benign"	""
"0000169888"	"0"	"10"	"1"	"26131654"	"26131654"	"subst"	"0.818081"	"00006"	"SEPN1_000006"	"g.26131654G>A"	"19/22"	"{PMID:Tajsharghi 2005:15792869}"	""	"Y142C"	""	"Germline"	""	"rs7349185"	"0"	""	""	"g.25805163G>A"	""	"benign"	""
"0000169889"	"0"	"30"	"1"	"26140663"	"26140663"	"subst"	"0.0002733"	"00464"	"SEPN1_000025"	"g.26140663C>T"	""	""	""	""	""	"Germline"	""	""	"0"	""	""	"g.25814172C>T"	""	"likely benign"	""
"0000169890"	"0"	"90"	"1"	"26136244"	"26136244"	"subst"	"0.000186855"	"00464"	"SEPN1_000011"	"g.26136244G>A"	""	"Ferreiro et al. AJHG 71:739-749, 2002"	""	""	""	"Germline"	""	"rs121908188"	"0"	""	""	"g.25809753G>A"	""	"pathogenic"	""
"0000169891"	"0"	"70"	"1"	"26140389"	"26140389"	"subst"	"8.12968E-6"	"00464"	"SEPN1_000026"	"g.26140389C>T"	""	""	""	""	""	"Germline"	""	""	"0"	""	""	"g.25813898C>T"	""	"likely pathogenic"	""
"0000169892"	"0"	"50"	"1"	"26127603"	"26127603"	"subst"	"3.24881E-5"	"00464"	"SEPN1_000027"	"g.26127603A>G"	""	""	""	""	""	"Germline"	""	""	"0"	""	""	"g.25801112A>G"	""	"VUS"	""
"0000169893"	"0"	"50"	"1"	"26131644"	"26131644"	"subst"	"0.000809325"	"00464"	"SEPN1_000028"	"g.26131644G>A"	""	""	""	""	""	"Germline"	""	""	"0"	""	""	"g.25805153G>A"	""	"VUS"	""
"0000169894"	"0"	"30"	"1"	"26131694"	"26131694"	"subst"	"4.0623E-5"	"00464"	"SEPN1_000029"	"g.26131694G>A"	""	""	""	""	""	"Germline"	""	""	"0"	""	""	"g.25805203G>A"	""	"likely benign"	""
"0000169895"	"0"	"50"	"1"	"26137955"	"26137955"	"subst"	"4.06544E-6"	"00464"	"SEPN1_000031"	"g.26137955G>A"	""	""	""	""	""	"Germline"	""	""	"0"	""	""	"g.25811464G>A"	""	"VUS"	""
"0000169896"	"0"	"50"	"1"	"26139175"	"26139175"	"subst"	"0"	"00464"	"SEPN1_000032"	"g.26139175C>T"	""	""	""	""	""	"Germline"	""	""	"0"	""	""	"g.25812684C>T"	""	"VUS"	""
"0000169897"	"0"	"30"	"1"	"26140537"	"26140537"	"subst"	"0.0116824"	"00464"	"SEPN1_000033"	"g.26140537C>T"	""	""	""	""	""	"Germline"	""	""	"0"	""	""	"g.25814046C>T"	""	"likely benign"	""
"0000169898"	"0"	"50"	"1"	"26138032"	"26138032"	"subst"	"0.00768231"	"00464"	"SEPN1_000030"	"g.26138032C>G"	""	""	""	""	""	"Germline"	""	"rs148071754"	"0"	""	""	"g.25811541C>G"	""	"VUS"	""
"0000169899"	"0"	"30"	"1"	"26136282"	"26136282"	"subst"	"0.0255976"	"00464"	"SEPN1_000012"	"g.26136282C>T"	""	""	""	""	""	"Germline"	""	""	"0"	""	""	"g.25809791C>T"	""	"likely benign"	""
"0000169900"	"0"	"50"	"1"	"26142081"	"26142081"	"subst"	"0.0026642"	"00464"	"SEPN1_000034"	"g.26142081G>A"	""	""	""	""	""	"Germline"	""	""	"0"	""	""	"g.25815590G>A"	""	"VUS"	""
"0000169901"	"0"	"50"	"1"	"26142253"	"26142253"	"subst"	"0.00259365"	"00464"	"SEPN1_000035"	"g.26142253G>T"	""	""	""	""	""	"Germline"	""	""	"0"	""	""	"g.25815762G>T"	""	"VUS"	""
"0000169902"	"0"	"50"	"1"	"26126763"	"26126763"	"subst"	"0.00483092"	"00464"	"SEPN1_000036"	"g.26126763C>T"	""	""	""	""	""	"Germline"	""	""	"0"	""	""	"g.25800272C>T"	""	"VUS"	""
"0000169903"	"0"	"50"	"1"	"26126708"	"26126717"	"dup"	"0"	"00464"	"SEPN1_000037"	"g.26126708_26126717dup"	""	""	""	"-14_-5dup10"	""	"Germline"	""	""	"0"	""	""	"g.25800217_25800226dup"	""	"VUS"	""
"0000169904"	"0"	"90"	"1"	"26126734"	"26126743"	"dup"	"0"	"00464"	"SEPN1_000003"	"g.26126734_26126743dup"	""	""	""	""	""	"Germline"	""	""	"0"	""	""	"g.25800243_25800252dup"	""	"pathogenic"	""
"0000169905"	"0"	"90"	"1"	"26136244"	"26136244"	"subst"	"0.000186855"	"00464"	"SEPN1_000011"	"g.26136244G>A"	""	""	""	""	""	"Germline"	""	"rs121908188"	"0"	""	""	"g.25809753G>A"	""	"pathogenic"	""
"0000169906"	"0"	"70"	"1"	"26135641"	"26135641"	"subst"	"1.22016E-5"	"00464"	"SEPN1_000039"	"g.26135641G>A"	""	""	""	""	"possible splice site effect"	"Germline"	""	""	"0"	""	""	"g.25809150G>A"	""	"likely pathogenic"	""
"0000169907"	"0"	"90"	"1"	"26140381"	"26140381"	"subst"	"4.87849E-5"	"00464"	"SEPN1_000020"	"g.26140381G>A"	""	""	""	""	""	"Germline"	""	"rs121908185"	"0"	""	""	"g.25813890G>A"	""	"pathogenic"	""
"0000169908"	"0"	"70"	"1"	"26139176"	"26139176"	"subst"	"0"	"00464"	"SEPN1_000040"	"g.26139176A>C"	""	""	""	""	""	"Germline"	""	""	"0"	""	""	"g.25812685A>C"	""	"likely pathogenic"	""
"0000169909"	"0"	"70"	"1"	"26139176"	"26139176"	"subst"	"0"	"00464"	"SEPN1_000040"	"g.26139176A>C"	""	""	""	""	""	"Germline"	""	""	"0"	""	""	"g.25812685A>C"	""	"likely pathogenic"	""
"0000169910"	"20"	"70"	"1"	"26135641"	"26135641"	"subst"	"1.22016E-5"	"00402"	"SEPN1_000039"	"g.26135641G>A"	""	""	""	""	""	"Germline"	""	""	"0"	""	""	"g.25809150G>A"	""	"likely pathogenic"	""
"0000169911"	"10"	"70"	"1"	"26135641"	"26135641"	"subst"	"1.22016E-5"	"00402"	"SEPN1_000039"	"g.26135641G>A"	""	""	""	""	""	"Germline"	""	""	"0"	""	""	"g.25809150G>A"	""	"likely pathogenic"	""
"0000169912"	"0"	"90"	"1"	"26136244"	"26136244"	"subst"	"0.000186855"	"00402"	"SEPN1_000011"	"g.26136244G>A"	""	""	""	""	""	"Germline"	""	"rs121908188"	"0"	""	""	"g.25809753G>A"	""	"pathogenic"	""
"0000169913"	"0"	"90"	"1"	"26139211"	"26139211"	"subst"	"2.86247E-5"	"00402"	"SEPN1_000015"	"g.26139211C>T"	""	""	""	""	""	"Germline"	""	""	"0"	""	""	"g.25812720C>T"	""	"pathogenic"	""
"0000169914"	"21"	"90"	"1"	"26126722"	"26126722"	"subst"	"0"	"00402"	"SEPN1_000002"	"g.26126722A>G"	""	""	""	""	""	"Germline"	""	"rs121908184"	"0"	""	""	"g.25800231A>G"	""	"pathogenic"	""
"0000169915"	"11"	"70"	"1"	"26140389"	"26140389"	"subst"	"8.12968E-6"	"00402"	"SEPN1_000026"	"g.26140389C>T"	""	""	""	""	""	"Germline"	""	""	"0"	""	""	"g.25813898C>T"	""	"likely pathogenic"	""
"0000169916"	"0"	"30"	"1"	"26142143"	"26142143"	"subst"	"0"	"00402"	"SEPN1_000097"	"g.26142143C>G"	""	""	""	"Ser569Ser"	"unknown variant 2nd chromosome"	"Germline"	""	""	"0"	""	""	"g.25815652C>G"	""	"likely benign"	""
"0000169917"	"11"	"70"	"1"	"26135571"	"26135571"	"subst"	"8.12896E-6"	"00402"	"SEPN1_000083"	"g.26135571C>T"	""	""	""	""	""	"Germline"	""	""	"0"	""	""	"g.25809080C>T"	""	"likely pathogenic"	""
"0000169918"	"21"	"70"	"1"	"26140381"	"26140381"	"subst"	"4.87849E-5"	"00402"	"SEPN1_000020"	"g.26140381G>A"	""	""	""	""	""	"Germline"	""	"rs121908185"	"0"	""	""	"g.25813890G>A"	""	"likely pathogenic"	""
"0000169919"	"0"	"50"	"1"	"26138032"	"26138032"	"subst"	"0.00768231"	"00402"	"SEPN1_000030"	"g.26138032C>G"	""	""	""	""	"unknown variant 2nd chromosome"	"Germline"	""	"rs148071754"	"0"	""	""	"g.25811541C>G"	""	"VUS"	""
"0000169920"	"0"	"30"	"1"	"26131638"	"26131638"	"subst"	"0.0128862"	"00402"	"SEPN1_000048"	"g.26131638A>G"	""	""	""	""	"unknown variant 2nd chromosome"	"Germline"	""	"rs35019869"	"0"	""	""	"g.25805147A>G"	""	"likely benign"	""
"0000169921"	"20"	"90"	"1"	"26126734"	"26126743"	"dup"	"0"	"00402"	"SEPN1_000003"	"g.26126734_26126743dup"	""	""	""	"13_22dup10"	""	"Germline"	""	""	"0"	""	""	"g.25800243_25800252dup"	""	"pathogenic"	""
"0000169922"	"10"	"90"	"1"	"26126734"	"26126743"	"dup"	"0"	"00402"	"SEPN1_000003"	"g.26126734_26126743dup"	""	""	""	"13_22dup10"	""	"Germline"	""	""	"0"	""	""	"g.25800243_25800252dup"	""	"pathogenic"	""
"0000169923"	"0"	"30"	"1"	"26142059"	"26142059"	"subst"	"0.000536136"	"00402"	"SEPN1_000098"	"g.26142059C>T"	""	""	""	"Asn541Asn"	"unknown variant 2nd chromosome"	"Germline"	""	""	"0"	""	""	"g.25815568C>T"	""	"likely benign"	""
"0000169924"	"0"	"90"	"1"	"26126722"	"26126722"	"subst"	"0"	"00464"	"SEPN1_000002"	"g.26126722A>G"	""	""	""	""	""	"Germline"	""	"rs121908184"	"0"	""	""	"g.25800231A>G"	""	"pathogenic"	""
"0000169925"	"0"	"90"	"1"	"26136244"	"26136244"	"subst"	"0.000186855"	"00464"	"SEPN1_000011"	"g.26136244G>A"	""	""	""	""	""	"Germline"	""	"rs121908188"	"0"	""	""	"g.25809753G>A"	""	"pathogenic"	""
"0000169926"	"0"	"90"	"1"	"26135246"	"26135246"	"dup"	"0"	"00464"	"SEPN1_000008"	"g.26135246dup"	""	""	""	"713dupA"	""	"Germline"	""	""	"0"	""	""	"g.25808755dup"	""	"pathogenic"	""
"0000169927"	"0"	"90"	"1"	"26136244"	"26136244"	"subst"	"0.000186855"	"00464"	"SEPN1_000011"	"g.26136244G>A"	""	""	""	""	""	"Germline"	""	"rs121908188"	"0"	""	""	"g.25809753G>A"	""	"pathogenic"	""
"0000169928"	"0"	"90"	"1"	"26135246"	"26135246"	"dup"	"0"	"00464"	"SEPN1_000008"	"g.26135246dup"	""	""	""	"713dupA"	""	"Germline"	""	""	"0"	""	""	"g.25808755dup"	""	"pathogenic"	""
"0000169929"	"2"	"90"	"1"	"26135246"	"26135246"	"dup"	"0"	"00464"	"SEPN1_000008"	"g.26135246dup"	""	""	""	"713dupA"	""	"Germline"	""	""	"0"	""	""	"g.25808755dup"	""	"pathogenic"	""
"0000169930"	"1"	"10"	"1"	"26140389"	"26140389"	"subst"	"8.12968E-6"	"00006"	"SEPN1_000026"	"g.26140389C>T"	""	"{PMID:Maiti 2009:19067361}"	""	""	""	"Germline"	""	""	"0"	""	""	"g.25813898C>T"	""	"benign"	""
"0000169931"	"2"	"10"	"1"	"26140389"	"26140389"	"subst"	"8.12968E-6"	"00006"	"SEPN1_000026"	"g.26140389C>T"	""	"{PMID:Maiti 2009:19067361}"	""	""	""	"Germline"	""	""	"0"	""	""	"g.25813898C>T"	""	"benign"	""
"0000169932"	"1"	"10"	"1"	"26140390"	"26140390"	"subst"	"1.21941E-5"	"00006"	"SEPN1_000052"	"g.26140390G>A"	""	"{PMID:Maiti 2009:19067361}"	""	""	""	"Germline"	""	""	"0"	""	""	"g.25813899G>A"	""	"benign"	""
"0000169933"	"2"	"10"	"1"	"26140390"	"26140390"	"subst"	"1.21941E-5"	"00006"	"SEPN1_000052"	"g.26140390G>A"	""	"{PMID:Maiti 2009:19067361}"	""	""	""	"Germline"	""	""	"0"	""	""	"g.25813899G>A"	""	"benign"	""
"0000169934"	"1"	"10"	"1"	"26140390"	"26140390"	"subst"	"1.21941E-5"	"00006"	"SEPN1_000052"	"g.26140390G>A"	""	"{PMID:Maiti 2009:19067361}"	""	""	""	"Germline"	""	""	"0"	""	""	"g.25813899G>A"	""	"benign"	""
"0000169935"	"2"	"10"	"1"	"26140390"	"26140390"	"subst"	"1.21941E-5"	"00006"	"SEPN1_000052"	"g.26140390G>A"	""	"{PMID:Maiti 2009:19067361}"	""	""	""	"Germline"	""	""	"0"	""	""	"g.25813899G>A"	""	"benign"	""
"0000169936"	"2"	"10"	"1"	"26126700"	"26126793"	"del"	"0"	"00006"	"SEPN1_000050"	"g.26126700_26126793del"	""	"{PMID:Maiti 2009:19067361}"	""	"1-25_69del"	""	"Germline"	""	""	"0"	""	""	"g.25800209_25800302del"	""	"benign"	""
"0000169937"	"1"	"10"	"1"	"26140372"	"26140372"	"subst"	"0"	"00006"	"SEPN1_000051"	"g.26140372G>T"	""	"{PMID:Maiti 2009:19067361}"	""	""	""	"Germline"	""	""	"0"	""	""	"g.25813881G>T"	""	"benign"	""
"0000169938"	"1"	"10"	"1"	"26140381"	"26140381"	"subst"	"4.87849E-5"	"00006"	"SEPN1_000020"	"g.26140381G>A"	""	"{PMID:Maiti 2009:19067361}"	""	""	"unknown variant 2nd chromosome"	"Germline"	""	"rs121908185"	"0"	""	""	"g.25813890G>A"	""	"benign"	""
"0000169939"	"2"	"10"	"1"	"26135246"	"26135246"	"dup"	"0"	"00006"	"SEPN1_000008"	"g.26135246dup"	""	"{PMID:Maiti 2009:19067361}"	""	"713dupA"	"RNA fibroblast SEPN1 RNA level 20%"	"Germline"	""	""	"0"	""	""	"g.25808755dup"	""	"benign"	""
"0000169940"	"1"	"10"	"1"	"26140381"	"26140381"	"subst"	"4.87849E-5"	"00006"	"SEPN1_000020"	"g.26140381G>A"	""	"{PMID:Maiti 2009:19067361}"	""	""	"RNA fibroblast SEPN1 RNA level 20%"	"Germline"	""	"rs121908185"	"0"	""	""	"g.25813890G>A"	""	"benign"	""
"0000169941"	"2"	"10"	"1"	"26136244"	"26136244"	"subst"	"0.000186855"	"00006"	"SEPN1_000011"	"g.26136244G>A"	""	"{PMID:Maiti 2009:19067361}"	""	""	"RNA fibroblast SEPN1 RNA level normal"	"Germline"	""	"rs121908188"	"0"	""	""	"g.25809753G>A"	""	"benign"	""
"0000169942"	"1"	"10"	"1"	"26140381"	"26140381"	"subst"	"4.87849E-5"	"00006"	"SEPN1_000020"	"g.26140381G>A"	""	"{PMID:Maiti 2009:19067361}"	""	""	"RNA fibroblast SEPN1 RNA level normal"	"Germline"	""	"rs121908185"	"0"	""	""	"g.25813890G>A"	""	"benign"	""
"0000169943"	"1"	"10"	"1"	"26126722"	"26126722"	"subst"	"0"	"00006"	"SEPN1_000002"	"g.26126722A>G"	""	"{PMID:Maiti 2009:19067361}"	""	""	""	"Germline"	""	"rs121908184"	"0"	""	""	"g.25800231A>G"	""	"benign"	""
"0000169944"	"2"	"10"	"1"	"26126722"	"26126722"	"subst"	"0"	"00006"	"SEPN1_000002"	"g.26126722A>G"	""	"{PMID:Maiti 2009:19067361}"	""	""	""	"Germline"	""	"rs121908184"	"0"	""	""	"g.25800231A>G"	""	"benign"	""
"0000169945"	"1"	"90"	"1"	"26135246"	"26135246"	"dup"	"0"	"00006"	"SEPN1_000008"	"g.26135246dup"	""	"{PMID:Schara 2008:17951086}"	""	"713_714insA"	"unknown variant 2nd chromosome"	"Germline"	""	""	"0"	""	""	"g.25808755dup"	""	"pathogenic"	""
"0000169946"	"1"	"90"	"1"	"26135246"	"26135246"	"dup"	"0"	"00006"	"SEPN1_000008"	"g.26135246dup"	""	"{PMID:Schara 2008:17951086}"	""	"713_714insA"	"unknown variant 2nd chromosome"	"Germline"	""	""	"0"	""	""	"g.25808755dup"	""	"pathogenic"	""
"0000169947"	"1"	"90"	"1"	"26139211"	"26139211"	"subst"	"2.86247E-5"	"00006"	"SEPN1_000015"	"g.26139211C>T"	""	"{PMID:Schara 2008:17951086}"	""	""	""	"Germline"	""	""	"0"	""	""	"g.25812720C>T"	""	"pathogenic (recessive)"	""
"0000169948"	"2"	"90"	"1"	"26136244"	"26136244"	"subst"	"0.000186855"	"00006"	"SEPN1_000011"	"g.26136244G>A"	""	"{PMID:Schara 2008:17951086}"	""	""	""	"Germline"	""	"rs121908188"	"0"	""	""	"g.25809753G>A"	""	"pathogenic (recessive)"	""
"0000169949"	"1"	"90"	"1"	"26139211"	"26139211"	"subst"	"2.86247E-5"	"00006"	"SEPN1_000015"	"g.26139211C>T"	""	"{PMID:Schara 2008:17951086}"	""	""	""	"Germline"	""	""	"0"	""	""	"g.25812720C>T"	""	"pathogenic (recessive)"	""
"0000169950"	"2"	"90"	"1"	"26136244"	"26136244"	"subst"	"0.000186855"	"00006"	"SEPN1_000011"	"g.26136244G>A"	""	"{PMID:Schara 2008:17951086}"	""	""	""	"Germline"	""	"rs121908188"	"0"	""	""	"g.25809753G>A"	""	"pathogenic (recessive)"	""
"0000169951"	"3"	"90"	"1"	"26126734"	"26126743"	"dup"	"0"	"00006"	"SEPN1_000003"	"g.26126734_26126743dup"	""	"{PMID:Schara 2008:17951086}"	""	"12_21dup10"	""	"Germline"	""	""	"0"	""	""	"g.25800243_25800252dup"	""	"pathogenic (recessive)"	""
"0000169953"	"1"	"90"	"1"	"26135246"	"26135246"	"dup"	"0"	"00006"	"SEPN1_000008"	"g.26135246dup"	""	"{PMID:Schara 2008:17951086}"	""	"713_714insA"	""	"Germline"	""	""	"0"	""	""	"g.25808755dup"	""	"pathogenic (recessive)"	""
"0000169954"	"2"	"90"	"1"	"26136244"	"26136244"	"subst"	"0.000186855"	"00006"	"SEPN1_000011"	"g.26136244G>A"	""	"{PMID:Schara 2008:17951086}"	""	""	""	"Germline"	""	"rs121908188"	"0"	""	""	"g.25809753G>A"	""	"pathogenic (recessive)"	""
"0000169955"	"1"	"90"	"1"	"26135246"	"26135246"	"dup"	"0"	"00006"	"SEPN1_000008"	"g.26135246dup"	""	"{PMID:Schara 2008:17951086}"	""	"713dupA"	""	"Germline"	""	""	"0"	""	""	"g.25808755dup"	""	"pathogenic (recessive)"	""
"0000169956"	"2"	"90"	"1"	"26140381"	"26140381"	"subst"	"4.87849E-5"	"00006"	"SEPN1_000020"	"g.26140381G>A"	""	"{PMID:Schara 2008:17951086}"	""	"Arg466Glu"	""	"Germline"	""	"rs121908185"	"0"	""	""	"g.25813890G>A"	""	"pathogenic (recessive)"	""
"0000169957"	"1"	"90"	"1"	"26135632"	"26135633"	"del"	"0"	"00006"	"SEPN1_000053"	"g.26135632_26135633del"	""	"{PMID:Sponholz 2006:16900928}, {PMID:Schara 2008:17951086}"	""	""	""	"Germline"	""	""	"0"	""	""	"g.25809141_25809142del"	""	"pathogenic (recessive)"	""
"0000169958"	"2"	"90"	"1"	"26140453"	"26140453"	"subst"	"0"	"00006"	"SEPN1_000054"	"g.26140453G>T"	""	"{PMID:Sponholz 2006:16900928}, {PMID:Schara 2008:17951086}"	""	""	""	"Germline"	""	""	"0"	""	""	"g.25813962G>T"	""	"pathogenic (recessive)"	""
"0000169959"	"3"	"90"	"1"	"26135586"	"26135586"	"subst"	"0"	"00006"	"SEPN1_000009"	"g.26135586G>A"	""	"{PMID:Schara 2008:17951086}"	""	""	""	"Germline"	""	""	"0"	""	""	"g.25809095G>A"	""	"pathogenic (recessive)"	""
"0000169961"	"3"	"90"	"1"	"26135586"	"26135586"	"subst"	"0"	"00006"	"SEPN1_000009"	"g.26135586G>A"	""	"{PMID:Schara 2008:17951086}"	""	""	""	"Germline"	""	""	"0"	""	""	"g.25809095G>A"	""	"pathogenic (recessive)"	""
"0000169963"	"3"	"90"	"1"	"26135586"	"26135586"	"subst"	"0"	"00006"	"SEPN1_000009"	"g.26135586G>A"	""	"{PMID:Schara 2008:17951086}"	""	""	""	"Germline"	""	""	"0"	""	""	"g.25809095G>A"	""	"pathogenic (recessive)"	""
"0000169965"	"0"	"90"	"1"	"26136244"	"26136244"	"subst"	"0.000186855"	"00464"	"SEPN1_000011"	"g.26136244G>A"	""	""	""	""	""	"Germline"	""	"rs121908188"	"0"	""	""	"g.25809753G>A"	""	"pathogenic"	""
"0000169966"	"0"	"90"	"1"	"26135246"	"26135246"	"dup"	"0"	"00464"	"SEPN1_000008"	"g.26135246dup"	""	""	""	"713dupA"	""	"Germline"	""	""	"0"	""	""	"g.25808755dup"	""	"pathogenic"	""
"0000169967"	"11"	"90"	"1"	"26135246"	"26135246"	"dup"	"0"	"00464"	"SEPN1_000008"	"g.26135246dup"	""	""	""	"713dupA"	""	"Germline"	""	""	"0"	""	""	"g.25808755dup"	""	"pathogenic (recessive)"	""
"0000169968"	"21"	"90"	"1"	"26135246"	"26135246"	"dup"	"0"	"00464"	"SEPN1_000008"	"g.26135246dup"	""	""	""	"713dupA"	""	"Germline"	""	""	"0"	""	""	"g.25808755dup"	""	"pathogenic (recessive)"	""
"0000169969"	"0"	"70"	"1"	"26126722"	"26126722"	"subst"	"0"	"00464"	"SEPN1_000002"	"g.26126722A>G"	""	""	""	""	""	"Germline"	""	"rs121908184"	"0"	""	""	"g.25800231A>G"	""	"likely pathogenic"	""
"0000169970"	"0"	"70"	"1"	"26131710"	"26131710"	"subst"	"2.03094E-5"	"00464"	"SEPN1_000055"	"g.26131710C>T"	""	""	""	""	""	"Germline"	""	""	"0"	""	""	"g.25805219C>T"	""	"likely pathogenic"	""
"0000169971"	"1"	"70"	"1"	"26127599"	"26127600"	"dup"	"0"	"00464"	"SEPN1_000056"	"g.26127599_26127600dup"	""	""	""	"249_250dupGG"	""	"Germline"	""	""	"0"	""	""	"g.25801108_25801109dup"	""	"likely pathogenic"	""
"0000169972"	"2"	"70"	"1"	"26127599"	"26127600"	"dup"	"0"	"00464"	"SEPN1_000056"	"g.26127599_26127600dup"	""	""	""	"249_250dupGG"	""	"Germline"	""	""	"0"	""	""	"g.25801108_25801109dup"	""	"likely pathogenic"	""
"0000169973"	"0"	"70"	"1"	"26140453"	"26140453"	"subst"	"1.21871E-5"	"00464"	"SEPN1_000057"	"g.26140453G>A"	""	""	""	""	""	"Germline"	""	""	"0"	""	""	"g.25813962G>A"	""	"likely pathogenic"	""
"0000169974"	"0"	"90"	"1"	"26136244"	"26136244"	"subst"	"0.000186855"	"00464"	"SEPN1_000011"	"g.26136244G>A"	""	""	""	""	""	"Germline"	""	"rs121908188"	"0"	""	""	"g.25809753G>A"	""	"pathogenic"	""
"0000169975"	"0"	"50"	"1"	"26140645"	"26140647"	"del"	"0"	"00464"	"SEPN1_000058"	"g.26140645_26140647del"	""	""	""	""	""	"Germline"	""	""	"0"	""	""	"g.25814154_25814156del"	""	"VUS"	""
"0000169976"	"0"	"90"	"1"	"26126765"	"26126793"	"dup"	"0"	"00464"	"SEPN1_000059"	"g.26126765_26126793dup"	""	""	""	"44_72dup29"	""	"Germline"	""	""	"0"	""	""	"g.25800274_25800302dup"	""	"pathogenic"	""
"0000169977"	"0"	"90"	"1"	"26135246"	"26135246"	"dup"	"0"	"00464"	"SEPN1_000008"	"g.26135246dup"	""	""	""	"713dupA"	""	"Germline"	""	""	"0"	""	""	"g.25808755dup"	""	"pathogenic"	""
"0000169978"	"1"	"70"	"1"	"26126730"	"26126754"	"del"	"0"	"00464"	"SEPN1_000060"	"g.26126730_26126754del"	""	""	""	"9_33del25"	""	"Germline"	""	""	"0"	""	""	"g.25800239_25800263del"	""	"likely pathogenic"	""
"0000169979"	"2"	"70"	"1"	"26140670"	"26140670"	"subst"	"4.09179E-6"	"00464"	"SEPN1_000061"	"g.26140670G>A"	""	""	""	""	""	"Germline"	""	""	"0"	""	""	"g.25814179G>A"	""	"likely pathogenic"	""
"0000169980"	"1"	"90"	"1"	"26126722"	"26126722"	"subst"	"0"	"00464"	"SEPN1_000002"	"g.26126722A>G"	""	""	""	"(Met1Val)"	""	"Germline"	""	"rs121908184"	"0"	""	""	"g.25800231A>G"	""	"pathogenic"	""
"0000169981"	"2"	"70"	"1"	"26126765"	"26126793"	"dup"	"0"	"00464"	"SEPN1_000059"	"g.26126765_26126793dup"	""	""	""	"44_72dup29"	""	"Germline"	""	""	"0"	""	""	"g.25800274_25800302dup"	""	"likely pathogenic"	""
"0000169982"	"11"	"50"	"1"	"26138010"	"26138010"	"subst"	"0"	"00490"	"SEPN1_000062"	"g.26138010T>C"	""	""	""	""	""	"Germline"	""	""	"0"	""	""	"g.25811519T>C"	""	"VUS"	""
"0000169983"	"21"	"90"	"1"	"26126722"	"26126722"	"subst"	"0"	"00490"	"SEPN1_000002"	"g.26126722A>G"	""	""	""	"Met1Val"	""	"Germline"	""	"rs121908184"	"0"	""	""	"g.25800231A>G"	""	"pathogenic"	""
"0000169984"	"10"	"90"	"1"	"26136289"	"26136289"	"del"	"0"	"03730"	"SEPN1_000047"	"g.26136289del"	""	"-"	""	"988delC"	""	"Germline"	""	""	"0"	""	""	"g.25809798del"	""	"pathogenic"	""
"0000169985"	"10"	"50"	"1"	"26140641"	"26140641"	"subst"	"3.65788E-5"	"00464"	"SEPN1_000045"	"g.26140641T>G"	""	""	""	""	""	"Germline"	""	""	"0"	""	""	"g.25814150T>G"	""	"VUS"	""
"0000169986"	"20"	"50"	"1"	"26140641"	"26140641"	"subst"	"3.65788E-5"	"00464"	"SEPN1_000045"	"g.26140641T>G"	""	""	""	""	""	"Germline"	""	""	"0"	""	""	"g.25814150T>G"	""	"VUS"	""
"0000169987"	"11"	"50"	"1"	"26139228"	"26139230"	"del"	"0"	"00490"	"SEPN1_000063"	"g.26139228_26139230del"	""	""	""	"1332_1334delCAA"	""	"Germline"	""	""	"0"	""	""	"g.25812737_25812739del"	""	"VUS"	""
"0000169988"	"21"	"90"	"1"	"26136244"	"26136244"	"subst"	"0.000186855"	"00490"	"SEPN1_000011"	"g.26136244G>A"	""	""	""	""	""	"Germline"	""	"rs121908188"	"0"	""	""	"g.25809753G>A"	""	"pathogenic"	""
"0000169989"	"1"	"90"	"1"	"26126722"	"26126722"	"subst"	"0"	"00421"	"SEPN1_000002"	"g.26126722A>G"	""	""	""	"M1V"	""	"Germline"	""	"rs121908184"	"0"	""	""	"g.25800231A>G"	""	"pathogenic"	""
"0000169990"	"2"	"70"	"1"	"26138010"	"26138010"	"subst"	"0"	"00421"	"SEPN1_000062"	"g.26138010T>C"	""	""	""	""	""	"Germline"	""	""	"0"	""	""	"g.25811519T>C"	""	"likely pathogenic"	""
"0000169991"	"1"	"90"	"1"	"26135247"	"26135248"	"ins"	"0"	"00421"	"SEPN1_000064"	"g.26135247_26135248insA"	""	""	""	""	""	"Germline"	""	""	"0"	""	""	"g.25808756_25808757insA"	""	"pathogenic"	""
"0000169992"	"2"	"90"	"1"	"26136298"	"26136301"	"del"	"0"	"00421"	"SEPN1_000065"	"g.26136298_26136301del"	""	""	""	"997_1001delGTGC"	""	"Germline"	""	""	"0"	""	""	"g.25809807_25809810del"	""	"pathogenic"	""
"0000169993"	"1"	"90"	"1"	"26135247"	"26135248"	"ins"	"0"	"00421"	"SEPN1_000064"	"g.26135247_26135248insA"	""	""	""	""	""	"Germline"	""	""	"0"	""	""	"g.25808756_25808757insA"	""	"pathogenic"	""
"0000169994"	"2"	"90"	"1"	"26136298"	"26136301"	"del"	"0"	"00421"	"SEPN1_000065"	"g.26136298_26136301del"	""	""	""	"997_1001delGTGC"	""	"Germline"	""	""	"0"	""	""	"g.25809807_25809810del"	""	"pathogenic"	""
"0000169995"	"1"	"70"	"1"	"26140453"	"26140453"	"subst"	"0"	"00421"	"SEPN1_000054"	"g.26140453G>T"	""	""	""	""	""	"Germline"	""	""	"0"	""	""	"g.25813962G>T"	""	"likely pathogenic"	""
"0000169996"	"2"	"70"	"1"	"26140453"	"26140453"	"subst"	"0"	"00421"	"SEPN1_000054"	"g.26140453G>T"	""	""	""	""	""	"Germline"	""	""	"0"	""	""	"g.25813962G>T"	""	"likely pathogenic"	""
"0000169997"	"1"	"70"	"1"	"26140381"	"26140381"	"subst"	"4.87849E-5"	"00421"	"SEPN1_000020"	"g.26140381G>A"	""	""	""	""	""	"Germline"	""	"rs121908185"	"0"	""	""	"g.25813890G>A"	""	"likely pathogenic"	""
"0000169998"	"2"	"70"	"1"	"26140381"	"26140381"	"subst"	"4.87849E-5"	"00421"	"SEPN1_000020"	"g.26140381G>A"	""	""	""	""	""	"Germline"	""	"rs121908185"	"0"	""	""	"g.25813890G>A"	""	"likely pathogenic"	""
"0000169999"	"1"	"70"	"1"	"26136244"	"26136244"	"subst"	"0.000186855"	"00421"	"SEPN1_000011"	"g.26136244G>A"	""	""	""	""	""	"Germline"	""	"rs121908188"	"0"	""	""	"g.25809753G>A"	""	"likely pathogenic"	""
"0000170000"	"2"	"70"	"1"	"26139228"	"26139230"	"del"	"0"	"00421"	"SEPN1_000063"	"g.26139228_26139230del"	""	""	""	"1332_1334delCAA"	""	"Germline"	""	""	"0"	""	""	"g.25812737_25812739del"	""	"likely pathogenic"	""
"0000170001"	"1"	"90"	"1"	"26128607"	"26128610"	"del"	"0"	"00421"	"SEPN1_000066"	"g.26128607_26128610del"	""	""	""	"402_403+2delGAgt"	""	"Germline"	""	""	"0"	""	""	"g.25802116_25802119del"	""	"pathogenic"	""
"0000170002"	"2"	"90"	"1"	"26128607"	"26128610"	"del"	"0"	"00421"	"SEPN1_000066"	"g.26128607_26128610del"	""	""	""	"402_403+2delGAgt"	""	"Germline"	""	""	"0"	""	""	"g.25802116_25802119del"	""	"pathogenic"	""
"0000170003"	"1"	"90"	"1"	"26135638"	"26135639"	"del"	"0"	"00421"	"SEPN1_000067"	"g.26135638_26135639del"	""	""	""	"869_870delTC"	""	"Germline"	""	""	"0"	""	""	"g.25809147_25809148del"	""	"pathogenic"	""
"0000170004"	"2"	"70"	"1"	"26140389"	"26140389"	"subst"	"8.12968E-6"	"00421"	"SEPN1_000026"	"g.26140389C>T"	""	""	""	""	""	"Germline"	""	""	"0"	""	""	"g.25813898C>T"	""	"likely pathogenic"	""
"0000170005"	"1"	"90"	"1"	"26135638"	"26135639"	"del"	"0"	"00421"	"SEPN1_000067"	"g.26135638_26135639del"	""	""	""	"869_870delTC"	""	"Germline"	""	""	"0"	""	""	"g.25809147_25809148del"	""	"pathogenic"	""
"0000170006"	"2"	"70"	"1"	"26140389"	"26140389"	"subst"	"8.12968E-6"	"00421"	"SEPN1_000026"	"g.26140389C>T"	""	""	""	""	""	"Germline"	""	""	"0"	""	""	"g.25813898C>T"	""	"likely pathogenic"	""
"0000170007"	"1"	"71"	"1"	"26135116"	"26135116"	"subst"	"0.00996831"	"00421"	"SEPN1_000007"	"g.26135116G>A"	""	""	""	""	""	"Germline"	""	"rs115852080"	"0"	""	""	"g.25808625G>A"	""	"likely pathogenic"	""
"0000170008"	"2"	"71"	"1"	"26135116"	"26135116"	"subst"	"0.00996831"	"00421"	"SEPN1_000007"	"g.26135116G>A"	""	""	""	""	""	"Germline"	""	"rs115852080"	"0"	""	""	"g.25808625G>A"	""	"likely pathogenic"	""
"0000170009"	"1"	"71"	"1"	"26135116"	"26135116"	"subst"	"0.00996831"	"00421"	"SEPN1_000007"	"g.26135116G>A"	""	""	""	""	""	"Germline"	""	"rs115852080"	"0"	""	""	"g.25808625G>A"	""	"likely pathogenic"	""
"0000170010"	"2"	"71"	"1"	"26135116"	"26135116"	"subst"	"0.00996831"	"00421"	"SEPN1_000007"	"g.26135116G>A"	""	""	""	""	""	"Germline"	""	"rs115852080"	"0"	""	""	"g.25808625G>A"	""	"likely pathogenic"	""
"0000170011"	"1"	"50"	"1"	"26135023"	"26135023"	"del"	"0"	"00421"	"SEPN1_000068"	"g.26135023del"	""	""	""	"538-47delC"	""	"Germline"	""	""	"0"	""	""	"g.25808532del"	""	"VUS"	""
"0000170012"	"2"	"50"	"1"	"26135023"	"26135023"	"del"	"0"	"00421"	"SEPN1_000068"	"g.26135023del"	""	""	""	"538-47delC"	""	"Germline"	""	""	"0"	""	""	"g.25808532del"	""	"VUS"	""
"0000170013"	"1"	"70"	"1"	"26135641"	"26135641"	"subst"	"1.22016E-5"	"00421"	"SEPN1_000039"	"g.26135641G>A"	""	""	""	""	""	"Germline"	""	""	"0"	""	""	"g.25809150G>A"	""	"likely pathogenic"	""
"0000170014"	"2"	"70"	"1"	"26135641"	"26135641"	"subst"	"1.22016E-5"	"00421"	"SEPN1_000039"	"g.26135641G>A"	""	""	""	""	""	"Germline"	""	""	"0"	""	""	"g.25809150G>A"	""	"likely pathogenic"	""
"0000170015"	"1"	"70"	"1"	"26135641"	"26135641"	"subst"	"1.22016E-5"	"00421"	"SEPN1_000039"	"g.26135641G>A"	""	""	""	""	""	"Germline"	""	""	"0"	""	""	"g.25809150G>A"	""	"likely pathogenic"	""
"0000170016"	"2"	"70"	"1"	"26135641"	"26135641"	"subst"	"1.22016E-5"	"00421"	"SEPN1_000039"	"g.26135641G>A"	""	""	""	""	""	"Germline"	""	""	"0"	""	""	"g.25809150G>A"	""	"likely pathogenic"	""
"0000170017"	"1"	"70"	"1"	"26140381"	"26140381"	"subst"	"4.87849E-5"	"00421"	"SEPN1_000020"	"g.26140381G>A"	""	""	""	""	""	"Germline"	""	"rs121908185"	"0"	""	""	"g.25813890G>A"	""	"likely pathogenic"	""
"0000170018"	"2"	"70"	"1"	"26140381"	"26140381"	"subst"	"4.87849E-5"	"00421"	"SEPN1_000020"	"g.26140381G>A"	""	""	""	""	""	"Germline"	""	"rs121908185"	"0"	""	""	"g.25813890G>A"	""	"likely pathogenic"	""
"0000170019"	"1"	"90"	"1"	"26126734"	"26126743"	"dup"	"0"	"00421"	"SEPN1_000003"	"g.26126734_26126743dup"	""	""	""	""	""	"Germline"	""	""	"0"	""	""	"g.25800243_25800252dup"	""	"pathogenic"	""
"0000170020"	"2"	"90"	"1"	"26126734"	"26126743"	"dup"	"0"	"00421"	"SEPN1_000003"	"g.26126734_26126743dup"	""	""	""	""	""	"Germline"	""	""	"0"	""	""	"g.25800243_25800252dup"	""	"pathogenic"	""
"0000170021"	"1"	"90"	"1"	"26126734"	"26126743"	"dup"	"0"	"00421"	"SEPN1_000003"	"g.26126734_26126743dup"	""	""	""	""	""	"Germline"	""	""	"0"	""	""	"g.25800243_25800252dup"	""	"pathogenic"	""
"0000170022"	"2"	"90"	"1"	"26126734"	"26126743"	"dup"	"0"	"00421"	"SEPN1_000003"	"g.26126734_26126743dup"	""	""	""	""	""	"Germline"	""	""	"0"	""	""	"g.25800243_25800252dup"	""	"pathogenic"	""
"0000170023"	"1"	"90"	"1"	"26126734"	"26126743"	"dup"	"0"	"00421"	"SEPN1_000003"	"g.26126734_26126743dup"	""	""	""	""	""	"Germline"	""	""	"0"	""	""	"g.25800243_25800252dup"	""	"pathogenic"	""
"0000170024"	"2"	"90"	"1"	"26126734"	"26126743"	"dup"	"0"	"00421"	"SEPN1_000003"	"g.26126734_26126743dup"	""	""	""	""	""	"Germline"	""	""	"0"	""	""	"g.25800243_25800252dup"	""	"pathogenic"	""
"0000170025"	"1"	"70"	"1"	"26136244"	"26136244"	"subst"	"0.000186855"	"00421"	"SEPN1_000011"	"g.26136244G>A"	""	""	""	""	""	"Germline"	""	"rs121908188"	"0"	""	""	"g.25809753G>A"	""	"likely pathogenic"	""
"0000170026"	"2"	"70"	"1"	"26140381"	"26140381"	"subst"	"4.87849E-5"	"00421"	"SEPN1_000020"	"g.26140381G>A"	""	""	""	""	""	"Germline"	""	"rs121908185"	"0"	""	""	"g.25813890G>A"	""	"likely pathogenic"	""
"0000170027"	"1"	"70"	"1"	"26140389"	"26140389"	"subst"	"8.12968E-6"	"00421"	"SEPN1_000026"	"g.26140389C>T"	""	""	""	""	""	"Germline"	""	""	"0"	""	""	"g.25813898C>T"	""	"likely pathogenic"	""
"0000170028"	"2"	"70"	"1"	"26140389"	"26140389"	"subst"	"8.12968E-6"	"00421"	"SEPN1_000026"	"g.26140389C>T"	""	""	""	""	""	"Germline"	""	""	"0"	""	""	"g.25813898C>T"	""	"likely pathogenic"	""
"0000170029"	"1"	"50"	"1"	"26138032"	"26138032"	"subst"	"0.00768231"	"00421"	"SEPN1_000030"	"g.26138032C>G"	""	""	""	""	""	"Germline"	""	"rs148071754"	"0"	""	""	"g.25811541C>G"	""	"VUS"	""
"0000170030"	"2"	"50"	"1"	"26138032"	"26138032"	"subst"	"0.00768231"	"00421"	"SEPN1_000030"	"g.26138032C>G"	""	""	""	""	""	"Germline"	""	"rs148071754"	"0"	""	""	"g.25811541C>G"	""	"VUS"	""
"0000170031"	"1"	"70"	"1"	"26136244"	"26136244"	"subst"	"0.000186855"	"00421"	"SEPN1_000011"	"g.26136244G>A"	""	""	""	""	""	"Germline"	""	"rs121908188"	"0"	""	""	"g.25809753G>A"	""	"likely pathogenic"	""
"0000170032"	"2"	"70"	"1"	"26136244"	"26136244"	"subst"	"0.000186855"	"00421"	"SEPN1_000011"	"g.26136244G>A"	""	""	""	""	""	"Germline"	""	"rs121908188"	"0"	""	""	"g.25809753G>A"	""	"likely pathogenic"	""
"0000170033"	"1"	"90"	"1"	"26135246"	"26135246"	"dup"	"0"	"00421"	"SEPN1_000008"	"g.26135246dup"	""	""	""	"713_714insA"	""	"Germline"	""	""	"0"	""	""	"g.25808755dup"	""	"pathogenic"	""
"0000170034"	"2"	"90"	"1"	"26135246"	"26135246"	"dup"	"0"	"00421"	"SEPN1_000008"	"g.26135246dup"	""	""	""	"713_714insA"	""	"Germline"	""	""	"0"	""	""	"g.25808755dup"	""	"pathogenic"	""
"0000170035"	"1"	"90"	"1"	"26135246"	"26135246"	"dup"	"0"	"00421"	"SEPN1_000008"	"g.26135246dup"	""	""	""	"713_714insA"	""	"Germline"	""	""	"0"	""	""	"g.25808755dup"	""	"pathogenic"	""
"0000170036"	"2"	"90"	"1"	"26135246"	"26135246"	"dup"	"0"	"00421"	"SEPN1_000008"	"g.26135246dup"	""	""	""	"713_714insA"	""	"Germline"	""	""	"0"	""	""	"g.25808755dup"	""	"pathogenic"	""
"0000170037"	"1"	"71"	"1"	"26135116"	"26135116"	"subst"	"0.00996831"	"00421"	"SEPN1_000007"	"g.26135116G>A"	""	""	""	""	""	"Germline"	""	"rs115852080"	"0"	""	""	"g.25808625G>A"	""	"likely pathogenic"	""
"0000170038"	"2"	"71"	"1"	"26135116"	"26135116"	"subst"	"0.00996831"	"00421"	"SEPN1_000007"	"g.26135116G>A"	""	""	""	""	""	"Germline"	""	"rs115852080"	"0"	""	""	"g.25808625G>A"	""	"likely pathogenic"	""
"0000170039"	"1"	"70"	"1"	"26136244"	"26136244"	"subst"	"0.000186855"	"00421"	"SEPN1_000011"	"g.26136244G>A"	""	""	""	""	""	"Germline"	""	"rs121908188"	"0"	""	""	"g.25809753G>A"	""	"likely pathogenic"	""
"0000170040"	"2"	"70"	"1"	"26140381"	"26140381"	"subst"	"4.87849E-5"	"00421"	"SEPN1_000020"	"g.26140381G>A"	""	""	""	""	""	"Germline"	""	"rs121908185"	"0"	""	""	"g.25813890G>A"	""	"likely pathogenic"	""
"0000170041"	"1"	"90"	"1"	"26126722"	"26126722"	"subst"	"0"	"00421"	"SEPN1_000002"	"g.26126722A>G"	""	""	""	"M1V"	""	"Germline"	""	"rs121908184"	"0"	""	""	"g.25800231A>G"	""	"pathogenic"	""
"0000170042"	"2"	"70"	"1"	"26136244"	"26136244"	"subst"	"0.000186855"	"00421"	"SEPN1_000011"	"g.26136244G>A"	""	""	""	""	""	"Germline"	""	"rs121908188"	"0"	""	""	"g.25809753G>A"	""	"likely pathogenic"	""
"0000170043"	"1"	"70"	"1"	"26135571"	"26135571"	"subst"	"0"	"00421"	"SEPN1_000069"	"g.26135571C>A"	""	""	""	""	""	"Germline"	""	""	"0"	""	""	"g.25809080C>A"	""	"likely pathogenic"	""
"0000170044"	"2"	"70"	"1"	"26142166"	"26142166"	"subst"	"4.06157E-6"	"00421"	"SEPN1_000070"	"g.26142166T>C"	""	""	""	""	""	"Germline"	""	""	"0"	""	""	"g.25815675T>C"	""	"likely pathogenic"	""
"0000170045"	"1"	"71"	"1"	"26135116"	"26135116"	"subst"	"0.00996831"	"00421"	"SEPN1_000007"	"g.26135116G>A"	""	""	""	""	""	"Germline"	""	"rs115852080"	"0"	""	""	"g.25808625G>A"	""	"likely pathogenic"	""
"0000170046"	"2"	"71"	"1"	"26135116"	"26135116"	"subst"	"0.00996831"	"00421"	"SEPN1_000007"	"g.26135116G>A"	""	""	""	""	""	"Germline"	""	"rs115852080"	"0"	""	""	"g.25808625G>A"	""	"likely pathogenic"	""
"0000170047"	"1"	"70"	"1"	"26136244"	"26136244"	"subst"	"0.000186855"	"00421"	"SEPN1_000011"	"g.26136244G>A"	""	""	""	""	""	"Germline"	""	"rs121908188"	"0"	""	""	"g.25809753G>A"	""	"likely pathogenic"	""
"0000170048"	"2"	"70"	"1"	"26139228"	"26139230"	"del"	"0"	"00421"	"SEPN1_000063"	"g.26139228_26139230del"	""	""	""	"1332_1334delCAA"	""	"Germline"	""	""	"0"	""	""	"g.25812737_25812739del"	""	"likely pathogenic"	""
"0000170049"	"1"	"90"	"1"	"26135104"	"26135105"	"del"	"0"	"00421"	"SEPN1_000071"	"g.26135104_26135105del"	""	""	""	"571_572delTG"	""	"Germline"	""	""	"0"	""	""	"g.25808613_25808614del"	""	"pathogenic (recessive)"	""
"0000170050"	"2"	"90"	"1"	"26135104"	"26135105"	"del"	"0"	"00421"	"SEPN1_000071"	"g.26135104_26135105del"	""	""	""	"571_572delTG"	""	"Germline"	""	""	"0"	""	""	"g.25808613_25808614del"	""	"pathogenic (recessive)"	""
"0000170051"	"0"	"90"	"1"	"26136266"	"26136268"	"delins"	"0"	"00490"	"SEPN1_000072"	"g.26136266_26136268delinsCATCATCT"	""	""	""	"965_967delACGinsCATCATCT"	""	"Germline"	""	""	"0"	""	""	"g.25809775_25809777delinsCATCATCT"	""	"pathogenic"	""
"0000170052"	"0"	"90"	"1"	"26136244"	"26136244"	"subst"	"0.000186855"	"00490"	"SEPN1_000011"	"g.26136244G>A"	""	""	""	""	""	"Germline"	""	"rs121908188"	"0"	""	""	"g.25809753G>A"	""	"pathogenic"	""
"0000170053"	"10"	"90"	"1"	"26126723"	"26126723"	"subst"	"0"	"00464"	"SEPN1_000073"	"g.26126723T>G"	""	""	""	"(Met1Val)"	""	"Germline"	""	""	"0"	""	""	"g.25800232T>G"	""	"pathogenic (recessive)"	""
"0000170054"	"20"	"90"	"1"	"26126723"	"26126723"	"subst"	"0"	"00464"	"SEPN1_000073"	"g.26126723T>G"	""	""	""	"(Met1Val)"	""	"Germline"	""	""	"0"	""	""	"g.25800232T>G"	""	"pathogenic (recessive)"	""
"0000170055"	"1"	"90"	"1"	"26126711"	"26126802"	"del"	"0"	"00464"	"SEPN1_000001"	"g.26126711_26126802del"	""	""	""	"-11_81del92"	""	"Germline"	""	""	"0"	""	""	"g.25800220_25800311del"	""	"pathogenic (recessive)"	""
"0000170056"	"2"	"90"	"1"	"26136244"	"26136244"	"subst"	"0.000186855"	"00464"	"SEPN1_000011"	"g.26136244G>A"	""	""	""	""	""	"Germline"	""	"rs121908188"	"0"	""	""	"g.25809753G>A"	""	"pathogenic (recessive)"	""
"0000170057"	"2"	"90"	"1"	"26136244"	"26136244"	"subst"	"0.000186855"	"00464"	"SEPN1_000011"	"g.26136244G>A"	""	""	""	""	""	"Germline"	""	"rs121908188"	"0"	""	""	"g.25809753G>A"	""	"pathogenic (recessive)"	""
"0000170058"	"1"	"90"	"1"	"26126722"	"26126722"	"subst"	"0"	"00464"	"SEPN1_000002"	"g.26126722A>G"	""	""	""	"(Met1Val)"	""	"Germline"	""	"rs121908184"	"0"	""	""	"g.25800231A>G"	""	"pathogenic (recessive)"	""
"0000170059"	"0"	"90"	"1"	"26135246"	"26135246"	"dup"	"0"	"00402"	"SEPN1_000008"	"g.26135246dup"	""	""	""	"713dupA"	""	"Germline"	""	""	"0"	""	""	"g.25808755dup"	""	"pathogenic"	""
"0000170060"	"0"	"90"	"1"	"26140381"	"26140381"	"subst"	"4.87849E-5"	"00402"	"SEPN1_000020"	"g.26140381G>A"	""	""	""	""	""	"Germline"	""	"rs121908185"	"0"	""	""	"g.25813890G>A"	""	"pathogenic"	""
"0000170061"	"20"	"90"	"1"	"26126692"	"26126785"	"del"	"0"	"00402"	"SEPN1_000074"	"g.26126692_26126785del"	""	""	""	"1-34_60del94"	""	"Germline"	""	""	"0"	""	""	"g.25800201_25800294del"	""	"pathogenic (recessive)"	""
"0000170062"	"10"	"90"	"1"	"26126692"	"26126785"	"del"	"0"	"00402"	"SEPN1_000074"	"g.26126692_26126785del"	""	""	""	"1-34_60del94"	""	"Germline"	""	""	"0"	""	""	"g.25800201_25800294del"	""	"pathogenic (recessive)"	""
"0000170063"	"20"	"90"	"1"	"26139211"	"26139211"	"subst"	"2.86247E-5"	"00402"	"SEPN1_000015"	"g.26139211C>T"	""	""	""	""	""	"Germline"	""	""	"0"	""	""	"g.25812720C>T"	""	"pathogenic (recessive)"	""
"0000170064"	"10"	"90"	"1"	"26139211"	"26139211"	"subst"	"2.86247E-5"	"00402"	"SEPN1_000015"	"g.26139211C>T"	""	""	""	""	""	"Germline"	""	""	"0"	""	""	"g.25812720C>T"	""	"pathogenic (recessive)"	""
"0000170065"	"0"	"30"	"1"	"26131638"	"26131638"	"subst"	"0.0128862"	"00402"	"SEPN1_000048"	"g.26131638A>G"	""	""	""	""	"unknown variant 2nd chromosome"	"Germline"	""	"rs35019869"	"0"	""	""	"g.25805147A>G"	""	"likely benign"	""
"0000170066"	"0"	"90"	"1"	"26136244"	"26136244"	"subst"	"0.000186855"	"00402"	"SEPN1_000011"	"g.26136244G>A"	""	""	""	""	""	"Germline"	""	"rs121908188"	"0"	""	""	"g.25809753G>A"	""	"pathogenic"	""
"0000170067"	"0"	"90"	"1"	"26135279"	"26135318"	"del"	"0"	"00402"	"SEPN1_000075"	"g.26135279_26135318del"	""	""	""	"746_747+38del38"	""	"Germline"	""	""	"0"	""	""	"g.25808788_25808827del"	""	"pathogenic"	""
"0000170068"	"0"	"30"	"1"	"26135116"	"26135116"	"subst"	"0.00996831"	"00402"	"SEPN1_000007"	"g.26135116G>A"	""	""	""	""	"unknown variant 2nd chromosome"	"Germline"	""	"rs115852080"	"0"	""	""	"g.25808625G>A"	""	"likely benign"	""
"0000170069"	"0"	"90"	"1"	"26126730"	"26126754"	"del"	"0"	"00402"	"SEPN1_000060"	"g.26126730_26126754del"	""	""	""	"9_33del24"	""	"Germline"	""	""	"0"	""	""	"g.25800239_25800263del"	""	"pathogenic"	""
"0000170070"	"0"	"90"	"1"	"26135640"	"26135640"	"subst"	"8.13478E-6"	"00402"	"SEPN1_000076"	"g.26135640C>T"	""	""	""	""	""	"Germline"	""	""	"0"	""	""	"g.25809149C>T"	""	"pathogenic"	""
"0000170071"	"20"	"50"	"1"	"26126710"	"26126710"	"subst"	"0"	"00402"	"SEPN1_000077"	"g.26126710C>G"	""	""	""	""	""	"Germline"	""	""	"0"	""	""	"g.25800219C>G"	""	"VUS"	""
"0000170072"	"10"	"50"	"1"	"26126710"	"26126710"	"subst"	"0"	"00402"	"SEPN1_000077"	"g.26126710C>G"	""	""	""	""	""	"Germline"	""	""	"0"	""	""	"g.25800219C>G"	""	"VUS"	""
"0000170073"	"0"	"50"	"1"	"26138018"	"26138018"	"subst"	"0"	"00402"	"SEPN1_000078"	"g.26138018A>G"	""	""	""	""	""	"Germline"	""	""	"0"	""	""	"g.25811527A>G"	""	"VUS"	""
"0000170074"	"0"	"50"	"1"	"26142181"	"26142181"	"subst"	"0.00572088"	"00402"	"SEPN1_000079"	"g.26142181G>A"	""	""	""	""	""	"Germline"	""	"rs74060854"	"0"	""	""	"g.25815690G>A"	""	"VUS"	""
"0000170075"	"20"	"90"	"1"	"26136244"	"26136244"	"subst"	"0.000186855"	"00402"	"SEPN1_000011"	"g.26136244G>A"	""	""	""	""	""	"Germline"	""	"rs121908188"	"0"	""	""	"g.25809753G>A"	""	"pathogenic (recessive)"	""
"0000170076"	"20"	"90"	"1"	"26136244"	"26136244"	"subst"	"0.000186855"	"00402"	"SEPN1_000011"	"g.26136244G>A"	""	""	""	""	""	"Germline"	""	"rs121908188"	"0"	""	""	"g.25809753G>A"	""	"pathogenic (recessive)"	""
"0000170077"	"20"	"90"	"1"	"26126887"	"26126887"	"subst"	"0"	"00402"	"SEPN1_000080"	"g.26126887C>T"	""	""	""	""	""	"Germline"	""	""	"0"	""	""	"g.25800396C>T"	""	"pathogenic (recessive)"	""
"0000170078"	"10"	"90"	"1"	"26126887"	"26126887"	"subst"	"0"	"00402"	"SEPN1_000080"	"g.26126887C>T"	""	""	""	""	""	"Germline"	""	""	"0"	""	""	"g.25800396C>T"	""	"pathogenic (recessive)"	""
"0000170079"	"21"	"30"	"1"	"26135589"	"26135589"	"subst"	"1.21952E-5"	"00402"	"SEPN1_000081"	"g.26135589G>C"	""	""	""	""	""	"Germline"	""	""	"0"	""	""	"g.25809098G>C"	""	"likely benign"	""
"0000170080"	"11"	"30"	"1"	"26135589"	"26135589"	"subst"	"1.21952E-5"	"00402"	"SEPN1_000081"	"g.26135589G>C"	""	""	""	""	""	"Germline"	""	""	"0"	""	""	"g.25809098G>C"	""	"likely benign"	""
"0000170081"	"10"	"90"	"1"	"26139176"	"26139176"	"subst"	"0"	"00402"	"SEPN1_000040"	"g.26139176A>C"	""	""	""	""	""	"Germline"	""	""	"0"	""	""	"g.25812685A>C"	""	"pathogenic (recessive)"	""
"0000170082"	"10"	"90"	"1"	"26139176"	"26139176"	"subst"	"0"	"00402"	"SEPN1_000040"	"g.26139176A>C"	""	""	""	""	""	"Germline"	""	""	"0"	""	""	"g.25812685A>C"	""	"pathogenic (recessive)"	""
"0000170083"	"10"	"90"	"1"	"26136244"	"26136244"	"subst"	"0.000186855"	"00402"	"SEPN1_000011"	"g.26136244G>A"	""	""	""	""	""	"Germline"	""	"rs121908188"	"0"	""	""	"g.25809753G>A"	""	"pathogenic (recessive)"	""
"0000170084"	"10"	"90"	"1"	"26136244"	"26136244"	"subst"	"0.000186855"	"00402"	"SEPN1_000011"	"g.26136244G>A"	""	""	""	""	""	"Germline"	""	"rs121908188"	"0"	""	""	"g.25809753G>A"	""	"pathogenic (recessive)"	""
"0000170085"	"20"	"90"	"1"	"26126734"	"26126743"	"dup"	"0"	"00402"	"SEPN1_000003"	"g.26126734_26126743dup"	""	""	""	"13_22dup10"	""	"Germline"	""	""	"0"	""	""	"g.25800243_25800252dup"	""	"pathogenic (recessive)"	""
"0000170086"	"10"	"90"	"1"	"26126734"	"26126743"	"dup"	"0"	"00402"	"SEPN1_000003"	"g.26126734_26126743dup"	""	""	""	"13_22dup10"	""	"Germline"	""	""	"0"	""	""	"g.25800243_25800252dup"	""	"pathogenic (recessive)"	""
"0000170087"	"0"	"90"	"1"	"26126730"	"26126754"	"del"	"0"	"00402"	"SEPN1_000060"	"g.26126730_26126754del"	""	""	""	"9_33del24"	""	"Germline"	""	""	"0"	""	""	"g.25800239_25800263del"	""	"pathogenic"	""
"0000170088"	"0"	"90"	"1"	"26138372"	"26138372"	"subst"	"0"	"00402"	"SEPN1_000082"	"g.26138372T>C"	""	""	""	""	""	"Germline"	""	""	"0"	""	""	"g.25811881T>C"	""	"pathogenic"	""
"0000170089"	"0"	"90"	"1"	"26135571"	"26135571"	"subst"	"8.12896E-6"	"00402"	"SEPN1_000083"	"g.26135571C>T"	""	""	""	""	""	"Germline"	""	""	"0"	""	""	"g.25809080C>T"	""	"pathogenic"	""
"0000170090"	"0"	"90"	"1"	"26139254"	"26139254"	"subst"	"4.09142E-6"	"00402"	"SEPN1_000016"	"g.26139254G>C"	""	""	""	""	""	"Germline"	""	"rs121908186"	"0"	""	""	"g.25812763G>C"	""	"pathogenic"	""
"0000170091"	"0"	"50"	"1"	"26142181"	"26142181"	"subst"	"0.00572088"	"00402"	"SEPN1_000079"	"g.26142181G>A"	""	""	""	""	"unknown variant 2nd chromosome"	"Germline"	""	"rs74060854"	"0"	""	""	"g.25815690G>A"	""	"VUS"	""
"0000170092"	"21"	"30"	"1"	"26135589"	"26135589"	"subst"	"1.21952E-5"	"00402"	"SEPN1_000081"	"g.26135589G>C"	""	""	""	""	""	"Germline"	""	""	"0"	""	""	"g.25809098G>C"	""	"likely benign"	""
"0000170093"	"11"	"30"	"1"	"26135589"	"26135589"	"subst"	"1.21952E-5"	"00402"	"SEPN1_000081"	"g.26135589G>C"	""	""	""	""	""	"Germline"	""	""	"0"	""	""	"g.25809098G>C"	""	"likely benign"	""
"0000170094"	"0"	"90"	"1"	"26136244"	"26136244"	"subst"	"0.000186855"	"00402"	"SEPN1_000011"	"g.26136244G>A"	""	""	""	""	""	"Germline"	""	"rs121908188"	"0"	""	""	"g.25809753G>A"	""	"pathogenic"	""
"0000170095"	"0"	"90"	"1"	"26138372"	"26138372"	"subst"	"0"	"00402"	"SEPN1_000082"	"g.26138372T>C"	""	""	""	""	""	"Germline"	""	""	"0"	""	""	"g.25811881T>C"	""	"pathogenic"	""
"0000170096"	"0"	"90"	"1"	"26140430"	"26140430"	"del"	"0"	"00402"	"SEPN1_000021"	"g.26140430del"	""	""	""	"1446delC"	""	"Germline"	""	""	"0"	""	""	"g.25813939del"	""	"pathogenic"	""
"0000170097"	"0"	"90"	"1"	"26139284"	"26139284"	"subst"	"0"	"00402"	"SEPN1_000084"	"g.26139284G>A"	""	""	""	""	""	"Germline"	""	""	"0"	""	""	"g.25812793G>A"	""	"pathogenic"	""
"0000170098"	"0"	"50"	"1"	"26140659"	"26140659"	"subst"	"0.000138455"	"00402"	"SEPN1_000085"	"g.26140659A>G"	""	""	""	""	"unknown variant 2nd chromosome"	"Germline"	""	""	"0"	""	""	"g.25814168A>G"	""	"VUS"	""
"0000170099"	"0"	"30"	"1"	"26131638"	"26131638"	"subst"	"0.0128862"	"00402"	"SEPN1_000048"	"g.26131638A>G"	""	""	""	""	"unknown variant 2nd chromosome"	"Germline"	""	"rs35019869"	"0"	""	""	"g.25805147A>G"	""	"likely benign"	""
"0000170100"	"0"	"30"	"1"	"26137919"	"26137919"	"subst"	"0.000264714"	"00402"	"SEPN1_000086"	"g.26137919G>T"	""	""	""	""	"unknown variant 2nd chromosome"	"Germline"	""	""	"0"	""	""	"g.25811428G>T"	""	"likely benign"	""
"0000170101"	"0"	"90"	"1"	"26138240"	"26138242"	"del"	"0"	"00402"	"SEPN1_000087"	"g.26138240_26138242del"	""	""	""	""	"unknown variant 2nd chromosome"	"Germline"	""	""	"0"	""	""	"g.25811749_25811751del"	""	"pathogenic"	""
"0000170102"	"0"	"90"	"1"	"26126722"	"26126722"	"subst"	"0"	"00402"	"SEPN1_000002"	"g.26126722A>G"	""	""	""	""	""	"Germline"	""	"rs121908184"	"0"	""	""	"g.25800231A>G"	""	"pathogenic"	""
"0000170103"	"0"	"90"	"1"	"26136184"	"26136184"	"subst"	"0"	"00402"	"SEPN1_000088"	"g.26136184G>A"	""	""	""	""	""	"Germline"	""	""	"0"	""	""	"g.25809693G>A"	""	"pathogenic"	""
"0000170104"	"21"	"90"	"1"	"26139176"	"26139176"	"subst"	"0"	"00402"	"SEPN1_000040"	"g.26139176A>C"	""	""	""	""	""	"Germline"	""	""	"0"	""	""	"g.25812685A>C"	""	"pathogenic"	""
"0000170105"	"11"	"90"	"1"	"26139176"	"26139176"	"subst"	"0"	"00402"	"SEPN1_000040"	"g.26139176A>C"	""	""	""	""	""	"Germline"	""	""	"0"	""	""	"g.25812685A>C"	""	"pathogenic"	""
"0000170106"	"0"	"70"	"1"	"26135571"	"26135571"	"subst"	"8.12896E-6"	"00402"	"SEPN1_000083"	"g.26135571C>T"	""	""	""	""	""	"Germline"	""	""	"0"	""	""	"g.25809080C>T"	""	"likely pathogenic"	""
"0000170107"	"0"	"90"	"1"	"26136244"	"26136244"	"subst"	"0.000186855"	"00402"	"SEPN1_000011"	"g.26136244G>A"	""	""	""	""	""	"Germline"	""	"rs121908188"	"0"	""	""	"g.25809753G>A"	""	"pathogenic"	""
"0000170108"	"0"	"90"	"1"	"26135246"	"26135246"	"dup"	"0"	"00402"	"SEPN1_000008"	"g.26135246dup"	""	""	""	"713dupA"	""	"Germline"	""	""	"0"	""	""	"g.25808755dup"	""	"pathogenic"	""
"0000170109"	"0"	"90"	"1"	"26136244"	"26136244"	"subst"	"0.000186855"	"00402"	"SEPN1_000011"	"g.26136244G>A"	""	""	""	""	""	"Germline"	""	"rs121908188"	"0"	""	""	"g.25809753G>A"	""	"pathogenic"	""
"0000170110"	"20"	"30"	"1"	"26135589"	"26135589"	"subst"	"1.21952E-5"	"00402"	"SEPN1_000081"	"g.26135589G>C"	""	""	""	""	""	"Germline"	""	""	"0"	""	""	"g.25809098G>C"	""	"likely benign"	""
"0000170111"	"10"	"30"	"1"	"26135589"	"26135589"	"subst"	"1.21952E-5"	"00402"	"SEPN1_000081"	"g.26135589G>C"	""	""	""	""	""	"Germline"	""	""	"0"	""	""	"g.25809098G>C"	""	"likely benign"	""
"0000170112"	"0"	"50"	"1"	"26142072"	"26142072"	"subst"	"2.03059E-5"	"00402"	"SEPN1_000089"	"g.26142072A>G"	""	""	""	""	"unknown variant 2nd chromosome"	"Germline"	""	""	"0"	""	""	"g.25815581A>G"	""	"VUS"	""
"0000170113"	"1"	"70"	"1"	"26136194"	"26136194"	"subst"	"0"	"00402"	"SEPN1_000091"	"g.26136194T>C"	""	"Bachmann 2019, submitted"	""	""	""	"Germline"	""	""	"0"	""	""	"g.25809703T>C"	""	"likely pathogenic"	""
"0000170114"	"2"	"70"	"1"	"26140380"	"26140380"	"subst"	"8.13068E-6"	"00402"	"SEPN1_000090"	"g.26140380C>T"	""	"Bachmann 2019, submitted"	""	""	""	"Germline"	""	""	"0"	""	""	"g.25813889C>T"	""	"likely pathogenic"	""
"0000170115"	"0"	"30"	"1"	"26131638"	"26131638"	"subst"	"0.0128862"	"00402"	"SEPN1_000048"	"g.26131638A>G"	""	""	""	""	"unknown variant 2nd chromosome"	"Germline"	""	"rs35019869"	"0"	""	""	"g.25805147A>G"	""	"likely benign"	""
"0000170116"	"0"	"90"	"1"	"26126711"	"26126802"	"del"	"0"	"00402"	"SEPN1_000001"	"g.26126711_26126802del"	""	""	""	"1-11_81del92"	""	"Germline"	""	""	"0"	""	""	"g.25800220_25800311del"	""	"pathogenic"	""
"0000170117"	"0"	"70"	"1"	"26136245"	"26136245"	"subst"	"0"	"00402"	"SEPN1_000092"	"g.26136245G>A"	""	""	""	""	""	"Germline"	""	""	"0"	""	""	"g.25809754G>A"	""	"likely pathogenic"	""
"0000170118"	"0"	"90"	"1"	"26126722"	"26126722"	"subst"	"0"	"00402"	"SEPN1_000002"	"g.26126722A>G"	""	""	""	""	""	"Germline"	""	"rs121908184"	"0"	""	""	"g.25800231A>G"	""	"pathogenic"	""
"0000170119"	"0"	"90"	"1"	"26136244"	"26136244"	"subst"	"0.000186855"	"00402"	"SEPN1_000011"	"g.26136244G>A"	""	""	""	""	""	"Germline"	""	"rs121908188"	"0"	""	""	"g.25809753G>A"	""	"pathogenic"	""
"0000170120"	"0"	"30"	"1"	"26131638"	"26131638"	"subst"	"0.0128862"	"00402"	"SEPN1_000048"	"g.26131638A>G"	""	""	""	""	"unknown variant 2nd chromosome"	"Germline"	""	"rs35019869"	"0"	""	""	"g.25805147A>G"	""	"likely benign"	""
"0000170121"	"0"	"30"	"1"	"26135116"	"26135116"	"subst"	"0.00996831"	"00402"	"SEPN1_000007"	"g.26135116G>A"	""	""	""	""	"unknown variant 2nd chromosome"	"Germline"	""	"rs115852080"	"0"	""	""	"g.25808625G>A"	""	"likely benign"	""
"0000170122"	"0"	"30"	"1"	"26135116"	"26135116"	"subst"	"0.00996831"	"00402"	"SEPN1_000007"	"g.26135116G>A"	""	""	""	""	"unknown variant 2nd chromosome"	"Germline"	""	"rs115852080"	"0"	""	""	"g.25808625G>A"	""	"likely benign"	""
"0000170123"	"20"	"70"	"1"	"26135589"	"26135589"	"subst"	"1.21952E-5"	"00402"	"SEPN1_000081"	"g.26135589G>C"	""	""	""	""	""	"Germline"	""	""	"0"	""	""	"g.25809098G>C"	""	"likely pathogenic"	""
"0000170124"	"10"	"70"	"1"	"26135589"	"26135589"	"subst"	"1.21952E-5"	"00402"	"SEPN1_000081"	"g.26135589G>C"	""	""	""	""	""	"Germline"	""	""	"0"	""	""	"g.25809098G>C"	""	"likely pathogenic"	""
"0000170125"	"0"	"50"	"1"	"26126824"	"26126824"	"subst"	"0"	"00402"	"SEPN1_000093"	"g.26126824G>C"	""	""	""	""	""	"Germline"	""	""	"0"	""	""	"g.25800333G>C"	""	"VUS"	""
"0000170126"	"0"	"50"	"1"	"26142090"	"26142090"	"subst"	"0.000377674"	"00402"	"SEPN1_000094"	"g.26142090G>A"	""	""	""	""	""	"Germline"	""	""	"0"	""	""	"g.25815599G>A"	""	"VUS"	""
"0000170127"	"21"	"90"	"1"	"26135571"	"26135571"	"subst"	"8.12896E-6"	"00402"	"SEPN1_000083"	"g.26135571C>T"	""	""	""	""	""	"Germline"	""	""	"0"	""	""	"g.25809080C>T"	""	"pathogenic"	""
"0000170128"	"11"	"70"	"1"	"26136244"	"26136244"	"subst"	"0.000186855"	"00402"	"SEPN1_000011"	"g.26136244G>A"	""	""	""	""	""	"Germline"	""	"rs121908188"	"0"	""	""	"g.25809753G>A"	""	"likely pathogenic"	""
"0000170129"	"21"	"90"	"1"	"26126777"	"26126804"	"dup"	"0"	"00402"	"SEPN1_000095"	"g.26126777_26126804dup"	""	""	""	"56_83dup28"	""	"Germline"	""	""	"0"	""	""	"g.25800286_25800313dup"	""	"pathogenic"	""
"0000170130"	"11"	"90"	"1"	"26136244"	"26136244"	"subst"	"0.000186855"	"00402"	"SEPN1_000011"	"g.26136244G>A"	""	""	""	""	""	"Germline"	""	"rs121908188"	"0"	""	""	"g.25809753G>A"	""	"pathogenic"	""
"0000170131"	"21"	"50"	"1"	"26126824"	"26126824"	"subst"	"0"	"00402"	"SEPN1_000093"	"g.26126824G>C"	""	""	""	""	""	"Germline"	""	""	"0"	""	""	"g.25800333G>C"	""	"VUS"	""
"0000170132"	"21"	"50"	"1"	"26142090"	"26142090"	"subst"	"0.000377674"	"00402"	"SEPN1_000094"	"g.26142090G>A"	""	""	""	""	""	"Germline"	""	""	"0"	""	""	"g.25815599G>A"	""	"VUS"	""
"0000170133"	"21"	"90"	"1"	"26131675"	"26131675"	"dup"	"0"	"00402"	"SEPN1_000096"	"g.26131675dup"	""	""	""	"446dupC"	""	"Germline"	""	""	"0"	""	""	"g.25805184dup"	""	"pathogenic"	""
"0000170134"	"11"	"90"	"1"	"26139211"	"26139211"	"subst"	"2.86247E-5"	"00402"	"SEPN1_000015"	"g.26139211C>T"	""	""	""	""	""	"Germline"	""	""	"0"	""	""	"g.25812720C>T"	""	"pathogenic"	""
"0000170135"	"11"	"50"	"1"	"26138183"	"26138183"	"subst"	"8.45945E-6"	"00464"	"SEPN1_000099"	"g.26138183T>G"	""	""	""	""	""	"Germline"	""	""	"0"	""	""	"g.25811692T>G"	""	"VUS"	""
"0000170136"	"21"	"50"	"1"	"26138183"	"26138183"	"subst"	"8.45945E-6"	"00464"	"SEPN1_000099"	"g.26138183T>G"	""	""	""	""	""	"Germline"	""	""	"0"	""	""	"g.25811692T>G"	""	"VUS"	""
"0000170137"	"0"	"90"	"1"	"26136244"	"26136244"	"subst"	"0.000186855"	"00464"	"SEPN1_000011"	"g.26136244G>A"	""	""	""	""	""	"Unknown"	""	"rs121908188"	"0"	""	""	"g.25809753G>A"	""	"pathogenic"	""
"0000170138"	"0"	"90"	"1"	"26126692"	"26126785"	"del"	"0"	"00464"	"SEPN1_000074"	"g.26126692_26126785del"	""	""	""	""	""	"Unknown"	""	""	"0"	""	""	"g.25800201_25800294del"	""	"pathogenic"	""
"0000170139"	"0"	"90"	"1"	"26135571"	"26135571"	"subst"	"8.12896E-6"	"00464"	"SEPN1_000083"	"g.26135571C>T"	""	""	""	""	""	"Unknown"	""	""	"0"	""	""	"g.25809080C>T"	""	"pathogenic"	""
"0000170140"	"0"	"90"	"1"	"26140390"	"26140390"	"subst"	"1.21941E-5"	"00464"	"SEPN1_000052"	"g.26140390G>A"	""	""	""	""	""	"Unknown"	""	""	"0"	""	""	"g.25813899G>A"	""	"pathogenic"	""
"0000170141"	"1"	"70"	"1"	"26126884"	"26126884"	"dup"	"0"	"00464"	"SEPN1_000100"	"g.26126884dup"	""	""	""	"163dupG"	""	"Germline"	""	""	"0"	""	""	"g.25800393dup"	""	"likely pathogenic"	""
"0000170142"	"2"	"70"	"1"	"26126712"	"26126856"	"del"	"0"	"00464"	"SEPN1_000101"	"g.26126712_26126856del"	""	""	""	""	"deletion of the terminal 10 nucleotides of the 5\' UTR and the first 135 nucleotides of exon 1"	"Germline"	""	""	"0"	""	""	"g.25800221_25800365del"	""	"likely pathogenic"	""
"0000170143"	"0"	"10"	"1"	"26126680"	"26126680"	"subst"	"0"	"00430"	"SEPN1_000102"	"g.26126680T>C"	""	"from website {DBsub-Emory}"	""	""	""	"Unknown"	""	""	"0"	""	""	"g.25800189T>C"	""	"benign"	""
"0000170144"	"0"	"90"	"1"	"26126734"	"26126743"	"dup"	"0"	"00430"	"SEPN1_000003"	"g.26126734_26126743dup"	""	"from website {DBsub-Emory}"	""	"13_22dupCGGCCGGGCC"	""	"Unknown"	""	""	"0"	""	""	"g.25800243_25800252dup"	""	"pathogenic"	""
"0000170145"	"0"	"50"	"1"	"26126763"	"26126763"	"subst"	"0.00483092"	"00430"	"SEPN1_000036"	"g.26126763C>T"	""	"from website {DBsub-Emory}"	""	""	""	"Unknown"	""	""	"0"	""	""	"g.25800272C>T"	""	"VUS"	""
"0000170146"	"0"	"50"	"1"	"26128607"	"26128610"	"del"	"0"	"00430"	"SEPN1_000066"	"g.26128607_26128610del"	""	"from website {DBsub-Emory}"	""	"402_403+2delGAGT"	""	"Unknown"	""	""	"0"	""	""	"g.25802116_25802119del"	""	"VUS"	""
"0000170147"	"0"	"10"	"1"	"26131638"	"26131638"	"subst"	"0.0128862"	"00430"	"SEPN1_000048"	"g.26131638A>G"	""	"from website {DBsub-Emory}"	""	""	""	"Unknown"	""	"rs35019869"	"0"	""	""	"g.25805147A>G"	""	"benign"	""
"0000170148"	"0"	"10"	"1"	"26131654"	"26131654"	"subst"	"0.818081"	"00430"	"SEPN1_000006"	"g.26131654G>A"	""	"from website {DBsub-Emory}"	""	""	""	"Unknown"	""	"rs7349185"	"0"	""	""	"g.25805163G>A"	""	"benign"	""
"0000170149"	"0"	"50"	"1"	"26131665"	"26131667"	"dup"	"0"	"00430"	"SEPN1_000103"	"g.26131665_26131667dup"	""	"from website {DBsub-Emory}"	""	"436_438dupGAG"	""	"Unknown"	""	""	"0"	""	""	"g.25805174_25805176dup"	""	"VUS"	""
"0000170150"	"0"	"10"	"1"	"26135116"	"26135116"	"subst"	"0.00996831"	"00430"	"SEPN1_000007"	"g.26135116G>A"	""	"from website {DBsub-Emory}"	""	""	""	"Unknown"	""	"rs115852080"	"0"	""	""	"g.25808625G>A"	""	"benign"	""
"0000170151"	"0"	"50"	"1"	"26135319"	"26135319"	"subst"	"0.00394679"	"00430"	"SEPN1_000104"	"g.26135319C>T"	""	"from website {DBsub-Emory}"	""	""	""	"Unknown"	""	""	"0"	""	""	"g.25808828C>T"	""	"VUS"	""
"0000170152"	"0"	"10"	"1"	"26135477"	"26135477"	"subst"	"0.00335565"	"00430"	"SEPN1_000105"	"g.26135477G>A"	""	"from website {DBsub-Emory}"	""	""	""	"Unknown"	""	""	"0"	""	""	"g.25808986G>A"	""	"benign"	""
"0000170153"	"0"	"10"	"1"	"26135615"	"26135615"	"subst"	"0.000349642"	"00430"	"SEPN1_000049"	"g.26135615C>T"	""	"from website {DBsub-Emory}"	""	""	""	"Unknown"	""	"rs34177164"	"0"	""	""	"g.25809124C>T"	""	"benign"	""
"0000170154"	"0"	"90"	"1"	"26136244"	"26136244"	"subst"	"0.000186855"	"00430"	"SEPN1_000011"	"g.26136244G>A"	""	"from website {DBsub-Emory}"	""	""	""	"Unknown"	""	"rs121908188"	"0"	""	""	"g.25809753G>A"	""	"pathogenic"	""
"0000170155"	"0"	"10"	"1"	"26136282"	"26136282"	"subst"	"0.0255976"	"00430"	"SEPN1_000012"	"g.26136282C>T"	""	"from website {DBsub-Emory}"	""	""	""	"Unknown"	""	""	"0"	""	""	"g.25809791C>T"	""	"benign"	""
"0000170156"	"0"	"10"	"1"	"26138136"	"26138136"	"subst"	"0.790175"	"00430"	"SEPN1_000106"	"g.26138136C>A"	""	"from website {DBsub-Emory}"	""	""	""	"Unknown"	""	""	"0"	""	""	"g.25811645C>A"	""	"benign"	""
"0000170157"	"0"	"10"	"1"	"26138262"	"26138262"	"subst"	"0.809566"	"00430"	"SEPN1_000014"	"g.26138262T>C"	""	"from website {DBsub-Emory}"	""	""	""	"Unknown"	""	"rs760597"	"0"	""	""	"g.25811771T>C"	""	"benign"	""
"0000170158"	"0"	"50"	"1"	"26138412"	"26138412"	"subst"	"0.00266135"	"00430"	"SEPN1_000107"	"g.26138412G>A"	""	"from website {DBsub-Emory}"	""	""	""	"Unknown"	""	""	"0"	""	""	"g.25811921G>A"	""	"VUS"	""
"0000170159"	"0"	"10"	"1"	"26139137"	"26139137"	"subst"	"0.792735"	"00430"	"SEPN1_000108"	"g.26139137C>T"	""	"from website {DBsub-Emory}"	""	""	""	"Unknown"	""	""	"0"	""	""	"g.25812646C>T"	""	"benign"	""
"0000170160"	"0"	"10"	"1"	"26139294"	"26139294"	"subst"	"0.00430353"	"00430"	"SEPN1_000109"	"g.26139294C>T"	""	"from website {DBsub-Emory}"	""	""	""	"Unknown"	""	""	"0"	""	""	"g.25812803C>T"	""	"benign"	""
"0000170161"	"0"	"50"	"1"	"26140491"	"26140491"	"subst"	"0.000150287"	"00430"	"SEPN1_000110"	"g.26140491G>A"	""	"from website {DBsub-Emory}"	""	""	""	"Unknown"	""	""	"0"	""	""	"g.25814000G>A"	""	"VUS"	""
"0000170162"	"0"	"10"	"1"	"26140537"	"26140537"	"subst"	"0.0116824"	"00430"	"SEPN1_000033"	"g.26140537C>T"	""	"from website {DBsub-Emory}"	""	""	""	"Unknown"	""	""	"0"	""	""	"g.25814046C>T"	""	"benign"	""
"0000170163"	"0"	"10"	"1"	"26140573"	"26140573"	"subst"	"0.786114"	"00430"	"SEPN1_000022"	"g.26140573C>A"	""	"from website {DBsub-Emory}"	""	""	""	"Unknown"	""	"rs2294228"	"0"	""	""	"g.25814082C>A"	""	"benign"	""
"0000170164"	"0"	"50"	"1"	"26142081"	"26142081"	"subst"	"0.0026642"	"00430"	"SEPN1_000034"	"g.26142081G>A"	""	"from website {DBsub-Emory}"	""	""	""	"Unknown"	""	""	"0"	""	""	"g.25815590G>A"	""	"VUS"	""
"0000170165"	"0"	"50"	"1"	"26142151"	"26142151"	"subst"	"0.000280226"	"00430"	"SEPN1_000111"	"g.26142151C>A"	""	"from website {DBsub-Emory}"	""	""	""	"Unknown"	""	""	"0"	""	""	"g.25815660C>A"	""	"VUS"	""
"0000170166"	"0"	"10"	"1"	"26142181"	"26142181"	"subst"	"0.00572088"	"00430"	"SEPN1_000079"	"g.26142181G>A"	""	"from website {DBsub-Emory}"	""	""	""	"Unknown"	""	"rs74060854"	"0"	""	""	"g.25815690G>A"	""	"benign"	""
"0000170167"	"0"	"50"	"1"	"26142253"	"26142253"	"subst"	"0.00259365"	"00430"	"SEPN1_000035"	"g.26142253G>T"	""	"from website {DBsub-Emory}"	""	""	""	"Unknown"	""	""	"0"	""	""	"g.25815762G>T"	""	"VUS"	""
"0000170168"	"10"	"90"	"1"	"26136244"	"26136244"	"subst"	"0.000186855"	"00464"	"SEPN1_000011"	"g.26136244G>A"	""	""	""	""	""	"Germline"	""	"rs121908188"	"0"	""	""	"g.25809753G>A"	""	"pathogenic"	""
"0000170169"	"20"	"90"	"1"	"26136244"	"26136244"	"subst"	"0.000186855"	"00464"	"SEPN1_000011"	"g.26136244G>A"	""	""	""	""	""	"Germline"	""	"rs121908188"	"0"	""	""	"g.25809753G>A"	""	"pathogenic"	""
"0000170170"	"1"	"90"	"1"	"26126734"	"26126743"	"dup"	"0"	"00464"	"SEPN1_000003"	"g.26126734_26126743dup"	""	""	""	""	""	"Germline"	""	""	"0"	""	""	"g.25800243_25800252dup"	""	"pathogenic"	""
"0000170171"	"2"	"70"	"1"	"26135069"	"26135069"	"subst"	"0"	"00464"	"SEPN1_000112"	"g.26135069A>T"	""	""	""	""	""	"Germline"	""	""	"0"	""	""	"g.25808578A>T"	""	"likely pathogenic"	""
"0000170172"	"1"	"70"	"1"	"26126846"	"26126857"	"dup"	"0"	"00464"	"SEPN1_000113"	"g.26126846_26126857dup"	""	""	""	""	""	"Germline"	""	""	"0"	""	""	"g.25800355_25800366dup"	""	"likely pathogenic"	""
"0000170173"	"2"	"70"	"1"	"26138338"	"26138338"	"subst"	"0"	"00464"	"SEPN1_000114"	"g.26138338C>T"	""	""	""	""	""	"Germline"	""	""	"0"	""	""	"g.25811847C>T"	""	"likely pathogenic"	""
"0000170174"	"1"	"90"	"1"	"26126734"	"26126743"	"dup"	"0"	"00464"	"SEPN1_000003"	"g.26126734_26126743dup"	""	""	""	""	""	"Germline"	""	""	"0"	""	""	"g.25800243_25800252dup"	""	"pathogenic"	""
"0000170175"	"2"	"90"	"1"	"26135640"	"26135640"	"subst"	"8.13478E-6"	"00464"	"SEPN1_000076"	"g.26135640C>T"	""	""	""	""	""	"Germline"	""	""	"0"	""	""	"g.25809149C>T"	""	"pathogenic"	""
"0000170176"	"0"	"50"	"1"	"26138251"	"26138251"	"subst"	"0.000890329"	"01973"	"SEPN1_000115"	"g.26138251A>G"	""	""	""	""	"2nd variant not found with Sanger sequencing or on a custom screen for exon deletions/duplications."	"Unknown"	""	""	"0"	""	""	"g.25811760A>G"	""	"VUS"	""
"0000170177"	"1"	"70"	"1"	"26135572"	"26135572"	"subst"	"0"	"00464"	"SEPN1_000116"	"g.26135572G>A"	""	""	""	""	""	"Germline"	""	""	"0"	""	""	"g.25809081G>A"	""	"likely pathogenic"	""
"0000170178"	"2"	"90"	"1"	"26140430"	"26140430"	"del"	"0"	"00464"	"SEPN1_000021"	"g.26140430del"	""	""	""	"1446delC"	""	"Germline"	""	""	"0"	""	""	"g.25813939del"	""	"pathogenic"	""
"0000170179"	"1"	"90"	"1"	"26135216"	"26135222"	"dup"	"0"	"00464"	"SEPN1_000117"	"g.26135216_26135222dup"	""	""	""	""	""	"Germline"	""	""	"0"	""	""	"g.25808725_25808731dup"	""	"pathogenic"	""
"0000170180"	"2"	"90"	"1"	"26136244"	"26136244"	"subst"	"0.000186855"	"00464"	"SEPN1_000011"	"g.26136244G>A"	""	""	""	""	""	"Germline"	""	"rs121908188"	"0"	""	""	"g.25809753G>A"	""	"pathogenic"	""
"0000170181"	"0"	"10"	"1"	"26144545"	"26144545"	"subst"	"0"	"00006"	"SEPN1_000043"	"g.26144545A>T"	"0-0.12"	""	""	""	""	"Germline"	""	"rs1044183"	"0"	""	""	"g.25818054A>T"	""	"benign"	""
"0000170182"	"0"	"10"	"1"	"26139225"	"26139225"	"subst"	"0"	"00006"	"SEPN1_000046"	"g.26139225G>A"	"0"	""	""	""	""	"Germline"	""	"rs12023720"	"0"	""	""	"g.25812734G>A"	""	"benign"	""
"0000170183"	"0"	"10"	"1"	"26143821"	"26143821"	"subst"	"0"	"00006"	"SEPN1_000041"	"g.26143821T>C"	"0.04"	""	""	""	""	"Germline"	""	"rs3203750"	"0"	""	""	"g.25817330T>C"	""	"benign"	""
"0000170184"	"0"	"10"	"1"	"26143931"	"26143931"	"subst"	"0"	"00006"	"SEPN1_000042"	"g.26143931T>C"	""	""	""	""	""	"Germline"	""	"rs4659383"	"0"	""	""	"g.25817440T>C"	""	"benign"	""
"0000170185"	"0"	"10"	"1"	"26144674"	"26144674"	"subst"	"0"	"00006"	"SEPN1_000044"	"g.26144674G>A"	"0.01-0.47"	""	""	""	""	"Germline"	""	"rs6872"	"0"	""	""	"g.25818183G>A"	""	"benign"	""
"0000170186"	"0"	"90"	"1"	"26140372"	"26140372"	"subst"	"0"	"00006"	"SEPN1_000051"	"g.26140372G>T"	""	"{PMID:Maiti 2009:19067361}"	""	""	"cloned in pUGA2SECIS; in vitro Sec insertion efficiency reduced"	"In vitro (cloned)"	""	""	"0"	""	""	"g.25813881G>T"	""	"NA"	""
"0000170187"	"0"	"10"	"1"	"26140372"	"26140372"	"subst"	"0"	"00006"	"SEPN1_000051"	"g.26140372G>T"	""	"{PMID:Maiti 2009:19067361}"	""	""	"cloned in pUGA2SECIS; 293FT cell Sec insertion normal"	"In vitro (cloned)"	""	""	"0"	""	""	"g.25813881G>T"	""	"NA"	""
"0000170188"	"0"	"90"	"1"	"26140381"	"26140381"	"subst"	"4.87849E-5"	"00006"	"SEPN1_000020"	"g.26140381G>A"	""	"{PMID:Maiti 2009:19067361}"	""	""	"cloned in pUGA2SECIS; in vitro Sec insertion efficiency reduced"	"In vitro (cloned)"	""	"rs121908185"	"0"	""	""	"g.25813890G>A"	""	"NA"	""
"0000170189"	"0"	"90"	"1"	"26140381"	"26140381"	"subst"	"4.87849E-5"	"00006"	"SEPN1_000020"	"g.26140381G>A"	""	"{PMID:Maiti 2009:19067361}"	""	""	"cloned in pUGA2SECIS; 293FT cell Sec insertion reduced 3-fold"	"In vitro (cloned)"	""	"rs121908185"	"0"	""	""	"g.25813890G>A"	""	"NA"	""
"0000170190"	"0"	"50"	"1"	"26140389"	"26140389"	"subst"	"8.12968E-6"	"00006"	"SEPN1_000026"	"g.26140389C>T"	""	"{PMID:Maiti 2009:19067361}"	""	""	"cloned in pUGA2SECIS; Sec in vitro insertion efficiency unaffected"	"In vitro (cloned)"	""	""	"0"	""	""	"g.25813898C>T"	""	"NA"	""
"0000170191"	"0"	"70"	"1"	"26140389"	"26140389"	"subst"	"8.12968E-6"	"00006"	"SEPN1_000026"	"g.26140389C>T"	""	"{PMID:Maiti 2009:19067361}"	""	""	"cloned in pUGA2SECIS; 293FT cell Sec insertion reduced slightly"	"In vitro (cloned)"	""	""	"0"	""	""	"g.25813898C>T"	""	"NA"	""
"0000170192"	"0"	"50"	"1"	"26140390"	"26140390"	"subst"	"1.21941E-5"	"00006"	"SEPN1_000052"	"g.26140390G>A"	""	"{PMID:Maiti 2009:19067361}"	""	""	"cloned in pUGA2SECIS; Sec in vitro insertion efficiency unaffected"	"In vitro (cloned)"	""	""	"0"	""	""	"g.25813899G>A"	""	"NA"	""
"0000170193"	"0"	"30"	"1"	"26140390"	"26140390"	"subst"	"1.21941E-5"	"00006"	"SEPN1_000052"	"g.26140390G>A"	""	"{PMID:Maiti 2009:19067361}"	""	""	"cloned in pUGA2SECIS; 293FT cell Sec insertion increased 1/3"	"In vitro (cloned)"	""	""	"0"	""	""	"g.25813899G>A"	""	"NA"	""
"0000170194"	"0"	"90"	"1"	"26143316"	"26143316"	"subst"	"0"	"00006"	"SEPN1_000023"	"g.26143316T>C"	""	"{PMID16498447:Allamand 2006}"	""	""	"T7-RNA no SBP2 binding"	"In vitro (cloned)"	""	""	"0"	""	""	"g.25816825T>C"	""	"NA"	""
"0000245420"	"0"	"30"	"1"	"26131638"	"26131638"	"subst"	"0.0128862"	"02330"	"SEPN1_000048"	"g.26131638A>G"	""	""	""	"SELENON(NM_020451.3):c.409A>G (p.T137A), SEPN1(NM_020451.2):c.409A>G (p.(Thr137Ala))"	"VKGL data sharing initiative Nederland"	"CLASSIFICATION record"	""	""	"0"	""	""	"g.25805147A>G"	""	"likely benign"	""
"0000251757"	"0"	"30"	"1"	"26131638"	"26131638"	"subst"	"0.0128862"	"02326"	"SEPN1_000048"	"g.26131638A>G"	""	""	""	"SELENON(NM_020451.3):c.409A>G (p.T137A), SEPN1(NM_020451.2):c.409A>G (p.(Thr137Ala))"	"VKGL data sharing initiative Nederland"	"CLASSIFICATION record"	""	""	"0"	""	""	"g.25805147A>G"	""	"likely benign"	""
"0000295721"	"0"	"10"	"1"	"26138032"	"26138032"	"subst"	"0.00768231"	"02330"	"SEPN1_000030"	"g.26138032C>G"	""	""	""	"SELENON(NM_020451.3):c.1092+6C>G, SEPN1(NM_020451.2):c.1092+6C>G (p.(=))"	"VKGL data sharing initiative Nederland"	"CLASSIFICATION record"	""	""	"0"	""	""	"g.25811541C>G"	""	"benign"	""
"0000295722"	"0"	"10"	"1"	"26138136"	"26138136"	"subst"	"0.790175"	"02330"	"SEPN1_000106"	"g.26138136C>A"	""	""	""	"SELENON(NM_020451.3):c.1093-46C>A"	"VKGL data sharing initiative Nederland"	"CLASSIFICATION record"	""	""	"0"	""	""	"g.25811645C>A"	""	"benign"	""
"0000295724"	"0"	"10"	"1"	"26139137"	"26139137"	"subst"	"0.792735"	"02330"	"SEPN1_000108"	"g.26139137C>T"	""	""	""	"SELENON(NM_020451.3):c.1282-41C>T"	"VKGL data sharing initiative Nederland"	"CLASSIFICATION record"	""	""	"0"	""	""	"g.25812646C>T"	""	"benign"	""
"0000295725"	"0"	"10"	"1"	"26140573"	"26140573"	"subst"	"0.786114"	"02330"	"SEPN1_000022"	"g.26140573C>A"	""	""	""	"SELENON(NM_020451.3):c.1506C>A (p.N502K)"	"VKGL data sharing initiative Nederland"	"CLASSIFICATION record"	""	""	"0"	""	""	"g.25814082C>A"	""	"benign"	""
"0000295726"	"0"	"10"	"1"	"26128498"	"26128499"	"del"	"0"	"02330"	"SEPN1_000123"	"g.26128498_26128499del"	""	""	""	"SELENON(NM_020451.3):c.302-9_302-8delTT"	"VKGL data sharing initiative Nederland"	"CLASSIFICATION record"	""	""	"0"	""	""	"g.25802007_25802008del"	""	"benign"	""
"0000295727"	"0"	"10"	"1"	"26131654"	"26131654"	"subst"	"0.818081"	"02330"	"SEPN1_000006"	"g.26131654G>A"	""	""	""	"SELENON(NM_020451.3):c.425G>A (p.C142Y)"	"VKGL data sharing initiative Nederland"	"CLASSIFICATION record"	""	""	"0"	""	""	"g.25805163G>A"	""	"benign"	""
"0000298100"	"0"	"10"	"1"	"26140573"	"26140573"	"subst"	"0.786114"	"02325"	"SEPN1_000022"	"g.26140573C>A"	""	""	""	"SELENON(NM_020451.3):c.1506C>A (p.N502K)"	"VKGL data sharing initiative Nederland"	"CLASSIFICATION record"	""	""	"0"	""	""	"g.25814082C>A"	""	"benign"	""
"0000298101"	"0"	"10"	"1"	"26131654"	"26131654"	"subst"	"0.818081"	"02325"	"SEPN1_000006"	"g.26131654G>A"	""	""	""	"SELENON(NM_020451.3):c.425G>A (p.C142Y)"	"VKGL data sharing initiative Nederland"	"CLASSIFICATION record"	""	""	"0"	""	""	"g.25805163G>A"	""	"benign"	""
"0000302030"	"0"	"10"	"1"	"26138032"	"26138032"	"subst"	"0.00768231"	"02326"	"SEPN1_000030"	"g.26138032C>G"	""	""	""	"SELENON(NM_020451.3):c.1092+6C>G, SEPN1(NM_020451.2):c.1092+6C>G (p.(=))"	"VKGL data sharing initiative Nederland"	"CLASSIFICATION record"	""	""	"0"	""	""	"g.25811541C>G"	""	"benign"	""
"0000302031"	"0"	"10"	"1"	"26140573"	"26140573"	"subst"	"0.786114"	"02326"	"SEPN1_000022"	"g.26140573C>A"	""	""	""	"SELENON(NM_020451.3):c.1506C>A (p.N502K)"	"VKGL data sharing initiative Nederland"	"CLASSIFICATION record"	""	""	"0"	""	""	"g.25814082C>A"	""	"benign"	""
"0000302032"	"0"	"10"	"1"	"26131654"	"26131654"	"subst"	"0.818081"	"02326"	"SEPN1_000006"	"g.26131654G>A"	""	""	""	"SELENON(NM_020451.3):c.425G>A (p.C142Y)"	"VKGL data sharing initiative Nederland"	"CLASSIFICATION record"	""	""	"0"	""	""	"g.25805163G>A"	""	"benign"	""
"0000302033"	"0"	"30"	"1"	"26135116"	"26135116"	"subst"	"0.00996831"	"02326"	"SEPN1_000007"	"g.26135116G>A"	""	""	""	"SELENON(NM_020451.3):c.583G>A (p.A195T), SEPN1(NM_020451.2):c.583G>A (p.(Ala195Thr))"	"VKGL data sharing initiative Nederland"	"CLASSIFICATION record"	""	""	"0"	""	""	"g.25808625G>A"	""	"likely benign"	""
"0000320660"	"0"	"30"	"1"	"26131638"	"26131638"	"subst"	"0.0128862"	"01804"	"SEPN1_000048"	"g.26131638A>G"	""	""	""	"SELENON(NM_020451.3):c.409A>G (p.T137A), SEPN1(NM_020451.2):c.409A>G (p.(Thr137Ala))"	"VKGL data sharing initiative Nederland"	"CLASSIFICATION record"	""	""	"0"	""	""	"g.25805147A>G"	""	"likely benign"	""
"0000320661"	"0"	"30"	"1"	"26135116"	"26135116"	"subst"	"0.00996831"	"01804"	"SEPN1_000007"	"g.26135116G>A"	""	""	""	"SELENON(NM_020451.3):c.583G>A (p.A195T), SEPN1(NM_020451.2):c.583G>A (p.(Ala195Thr))"	"VKGL data sharing initiative Nederland"	"CLASSIFICATION record"	""	""	"0"	""	""	"g.25808625G>A"	""	"likely benign"	""
"0000320662"	"0"	"30"	"1"	"26136282"	"26136282"	"subst"	"0.0255976"	"01804"	"SEPN1_000012"	"g.26136282C>T"	""	""	""	"SELENON(NM_020451.3):c.981C>T (p.R327=), SEPN1(NM_020451.2):c.981C>T (p.(Arg327=))"	"VKGL data sharing initiative Nederland"	"CLASSIFICATION record"	""	""	"0"	""	""	"g.25809791C>T"	""	"likely benign"	""
"0000320663"	"0"	"50"	"1"	"26140602"	"26140602"	"subst"	"3.6553E-5"	"01804"	"SEPN1_000126"	"g.26140602C>T"	""	""	""	"SELENON(NM_020451.3):c.1535C>T (p.(Ala512Val))"	"VKGL data sharing initiative Nederland"	"CLASSIFICATION record"	""	""	"0"	""	""	"g.25814111C>T"	""	"VUS"	""
"0000337634"	"0"	"10"	"1"	"26126680"	"26126680"	"subst"	"0"	"02327"	"SEPN1_000102"	"g.26126680T>C"	""	""	""	""	"VKGL data sharing initiative Nederland"	"CLASSIFICATION record"	""	""	"0"	""	""	"g.25800189T>C"	""	"benign"	""
"0000337637"	"0"	"90"	"1"	"26131632"	"26131632"	"subst"	"0"	"02327"	"SEPN1_000129"	"g.26131632G>A"	""	""	""	""	"VKGL data sharing initiative Nederland"	"CLASSIFICATION record"	""	""	"0"	""	""	"g.25805141G>A"	""	"pathogenic"	""
"0000337638"	"0"	"10"	"1"	"26138032"	"26138032"	"subst"	"0.00768231"	"02327"	"SEPN1_000030"	"g.26138032C>G"	""	""	""	"SELENON(NM_020451.3):c.1092+6C>G, SEPN1(NM_020451.2):c.1092+6C>G (p.(=))"	"VKGL data sharing initiative Nederland"	"CLASSIFICATION record"	""	""	"0"	""	""	"g.25811541C>G"	""	"benign"	""
"0000339771"	"0"	"10"	"1"	"26138262"	"26138262"	"subst"	"0.809566"	"02327"	"SEPN1_000014"	"g.26138262T>C"	""	""	""	"SELENON(NM_020451.3):c.1173T>C (p.P391=)"	"VKGL data sharing initiative Nederland"	"CLASSIFICATION record"	""	""	"0"	""	""	"g.25811771T>C"	""	"benign"	""
"0000342143"	"0"	"70"	"1"	"26135098"	"26135098"	"subst"	"8.16213E-6"	"02327"	"SEPN1_000130"	"g.26135098C>T"	""	""	""	""	"VKGL data sharing initiative Nederland"	"CLASSIFICATION record"	""	""	"0"	""	""	"g.25808607C>T"	""	"likely pathogenic"	""
"0000342551"	"0"	"50"	"1"	"26135641"	"26135641"	"subst"	"1.22016E-5"	"02327"	"SEPN1_000039"	"g.26135641G>A"	""	""	""	"SEPN1(NM_020451.2):c.872G>A (p.(Arg291Gln))"	"VKGL data sharing initiative Nederland"	"CLASSIFICATION record"	""	""	"0"	""	""	"g.25809150G>A"	""	"VUS"	""
"0000343775"	"0"	"10"	"1"	"26140573"	"26140573"	"subst"	"0.786114"	"02327"	"SEPN1_000022"	"g.26140573C>A"	""	""	""	"SELENON(NM_020451.3):c.1506C>A (p.N502K)"	"VKGL data sharing initiative Nederland"	"CLASSIFICATION record"	""	""	"0"	""	""	"g.25814082C>A"	""	"benign"	""
"0000344274"	"0"	"10"	"1"	"26131654"	"26131654"	"subst"	"0.818081"	"02327"	"SEPN1_000006"	"g.26131654G>A"	""	""	""	"SELENON(NM_020451.3):c.425G>A (p.C142Y)"	"VKGL data sharing initiative Nederland"	"CLASSIFICATION record"	""	""	"0"	""	""	"g.25805163G>A"	""	"benign"	""
"0000347693"	"0"	"90"	"1"	"26126722"	"26126722"	"subst"	"0"	"02327"	"SEPN1_000002"	"g.26126722A>G"	""	""	""	""	"VKGL data sharing initiative Nederland"	"CLASSIFICATION record"	""	""	"0"	""	""	"g.25800231A>G"	""	"pathogenic"	""
"0000408472"	"0"	"70"	"1"	"26140297"	"26140584"	"dup"	"0"	"02947"	"SEPN1_000134"	"g.(26139284_26140297)_(26140584_26142038)dup"	""	"{PMID:Giugliano 2018:30373198}"	""	"g.26140297_26140584dup"	""	"Germline"	""	""	"0"	""	""	""	""	"VUS"	""
"0000439755"	"0"	"90"	"1"	"26140381"	"26140381"	"subst"	"4.87849E-5"	"01164"	"SEPN1_000020"	"g.26140381G>A"	""	""	""	""	"ACMG grading: PS3,PP1,PM2,PP5,PM3; not regarded causative for phenotype in patient; co-occurrence with pathogenic variant in AARS (c.986G>A:p.Arg329His).; reported in Moghadaszadeh  2001. Nat Genet 29: 17; Ferreiro  2002. Am J Hum Genet 71: 739 1397G>A"	"Germline"	""	"rs121908185"	"0"	""	""	"g.25813890G>A"	""	"pathogenic"	"ACMG"
"0000440020"	"0"	"50"	"1"	"26138336"	"26138336"	"subst"	"0"	"01164"	"SEPN1_000135"	"g.26138336G>A"	""	""	""	""	""	"Germline"	""	"rs373112027"	"0"	""	""	"g.25811845G>A"	""	"VUS"	"ACMG"
"0000454278"	"3"	"90"	"1"	"26135596"	"26135598"	"dup"	"0"	"00006"	"SEPN1_000136"	"g.26135596_26135598dup"	""	"{PMID:Saini 2018:29850975}"	""	"826_827insCCT"	""	"Germline"	""	""	"0"	""	""	"g.25809105_25809107dup"	""	"pathogenic (recessive)"	""
"0000506896"	"0"	"90"	"1"	"26135246"	"26135246"	"dup"	"0"	"02326"	"SEPN1_000008"	"g.26135246dup"	""	""	""	"SELENON(NM_206926.2):c.611dupA (p.N204Kfs*63)"	"VKGL data sharing initiative Nederland"	"CLASSIFICATION record"	""	""	""	""	""	"g.25808755dup"	""	"pathogenic"	""
"0000506897"	"0"	"90"	"1"	"26135641"	"26135641"	"subst"	"1.22016E-5"	"01804"	"SEPN1_000039"	"g.26135641G>A"	""	""	""	"SEPN1(NM_020451.2):c.872G>A (p.(Arg291Gln))"	"VKGL data sharing initiative Nederland"	"CLASSIFICATION record"	""	""	""	""	""	"g.25809150G>A"	""	"pathogenic"	""
"0000506898"	"0"	"90"	"1"	"26136244"	"26136244"	"subst"	"0.000186855"	"01804"	"SEPN1_000011"	"g.26136244G>A"	""	""	""	"SEPN1(NM_020451.2):c.943G>A (p.(Gly315Ser))"	"VKGL data sharing initiative Nederland"	"CLASSIFICATION record"	""	""	""	""	""	"g.25809753G>A"	""	"pathogenic"	""
"0000506899"	"0"	"10"	"1"	"26136282"	"26136282"	"subst"	"0.0255976"	"02330"	"SEPN1_000012"	"g.26136282C>T"	""	""	""	"SELENON(NM_020451.3):c.981C>T (p.R327=), SEPN1(NM_020451.2):c.981C>T (p.(Arg327=))"	"VKGL data sharing initiative Nederland"	"CLASSIFICATION record"	""	""	""	""	""	"g.25809791C>T"	""	"benign"	""
"0000506900"	"0"	"50"	"1"	"26137983"	"26137983"	"subst"	"0"	"01804"	"SEPN1_000138"	"g.26137983G>C"	""	""	""	"SEPN1(NM_020451.2):c.1049G>C (p.(Ser350Thr))"	"VKGL data sharing initiative Nederland"	"CLASSIFICATION record"	""	""	""	""	""	"g.25811492G>C"	""	"VUS"	""
"0000506901"	"0"	"30"	"1"	"26138032"	"26138032"	"subst"	"0.00768231"	"01804"	"SEPN1_000030"	"g.26138032C>G"	""	""	""	"SELENON(NM_020451.3):c.1092+6C>G, SEPN1(NM_020451.2):c.1092+6C>G (p.(=))"	"VKGL data sharing initiative Nederland"	"CLASSIFICATION record"	""	""	""	""	""	"g.25811541C>G"	""	"likely benign"	""
"0000506902"	"0"	"30"	"1"	"26138042"	"26138042"	"subst"	"0.000983228"	"01804"	"SEPN1_000139"	"g.26138042G>C"	""	""	""	"SEPN1(NM_020451.2):c.1092+16G>C (p.(=))"	"VKGL data sharing initiative Nederland"	"CLASSIFICATION record"	""	""	""	""	""	"g.25811551G>C"	""	"likely benign"	""
"0000506903"	"0"	"10"	"1"	"26138262"	"26138262"	"subst"	"0.809566"	"02325"	"SEPN1_000014"	"g.26138262T>C"	""	""	""	"SELENON(NM_020451.3):c.1173T>C (p.P391=)"	"VKGL data sharing initiative Nederland"	"CLASSIFICATION record"	""	""	""	""	""	"g.25811771T>C"	""	"benign"	""
"0000506904"	"0"	"10"	"1"	"26138262"	"26138262"	"subst"	"0.809566"	"02326"	"SEPN1_000014"	"g.26138262T>C"	""	""	""	"SELENON(NM_020451.3):c.1173T>C (p.P391=)"	"VKGL data sharing initiative Nederland"	"CLASSIFICATION record"	""	""	""	""	""	"g.25811771T>C"	""	"benign"	""
"0000506905"	"0"	"10"	"1"	"26138262"	"26138262"	"subst"	"0.809566"	"02330"	"SEPN1_000014"	"g.26138262T>C"	""	""	""	"SELENON(NM_020451.3):c.1173T>C (p.P391=)"	"VKGL data sharing initiative Nederland"	"CLASSIFICATION record"	""	""	""	""	""	"g.25811771T>C"	""	"benign"	""
"0000506906"	"0"	"50"	"1"	"26138339"	"26138339"	"subst"	"0"	"02327"	"SEPN1_000140"	"g.26138339G>A"	""	""	""	"SEPN1(NM_020451.2):c.1250G>A (p.(Arg417His))"	"VKGL data sharing initiative Nederland"	"CLASSIFICATION record"	""	""	""	""	""	"g.25811848G>A"	""	"VUS"	""
"0000506907"	"0"	"50"	"1"	"26140375"	"26140375"	"subst"	"0"	"02327"	"SEPN1_000141"	"g.26140375C>T"	""	""	""	""	"VKGL data sharing initiative Nederland"	"CLASSIFICATION record"	""	""	""	""	""	"g.25813884C>T"	""	"VUS"	""
"0000506908"	"0"	"50"	"1"	"26140411"	"26140411"	"subst"	"2.03181E-5"	"02327"	"SEPN1_000142"	"g.26140411C>T"	""	""	""	"SELENON(NM_020451.3):c.1427C>T (p.S476L), SEPN1(NM_020451.2):c.1427C>T (p.(Ser476Leu))"	"VKGL data sharing initiative Nederland"	"CLASSIFICATION record"	""	""	""	""	""	"g.25813920C>T"	""	"VUS"	""
"0000506909"	"0"	"50"	"1"	"26142090"	"26142090"	"subst"	"0.000377674"	"02325"	"SEPN1_000094"	"g.26142090G>A"	""	""	""	"SELENON(NM_020451.3):c.1654G>A (p.(Glu552Lys), p.E552K)"	"VKGL data sharing initiative Nederland"	"CLASSIFICATION record"	""	""	""	""	""	"g.25815599G>A"	""	"VUS"	""
"0000577976"	"0"	"90"	"1"	"26135246"	"26135246"	"dup"	"0"	"01164"	"SEPN1_000137"	"g.26135246dup"	""	""	""	"713dupA"	""	"Germline"	""	"rs750857935"	"0"	""	""	"g.25808755dup"	""	"pathogenic"	"ACMG"
"0000577977"	"0"	"90"	"1"	"26140381"	"26140381"	"subst"	"4.87849E-5"	"01164"	"SEPN1_000020"	"g.26140381G>A"	""	""	""	""	"ACMG grading: PP5, PM2, PM3, PP1, PS3"	"Germline"	""	"rs121908185"	"0"	""	""	"g.25813890G>A"	""	"pathogenic"	"ACMG"
"0000597605"	"3"	"90"	"1"	"26139268"	"26139268"	"subst"	"0"	"00006"	"SEPN1_000143"	"g.26139268G>A"	""	"{PMID:Monies 2016:27671536}"	""	"NM_206926:c.1270G>A"	"ACMG PP1-S, PM2, PM3, PP1-M, PP1, PP2, PP3, PP4"	"Germline"	""	""	"0"	""	""	"g.25812777G>A"	""	"pathogenic"	"ACMG"
"0000629670"	"1"	"70"	"1"	"26127584"	"26127584"	"del"	"0"	"00006"	"SEPN1_000144"	"g.26127584del"	"1/209 cases"	"{PMID:Park 2017:27363342}"	""	"233delC"	"no variant 2nd allele"	"Germline"	""	""	"0"	""	""	"g.25801093del"	""	"likely pathogenic (recessive)"	""
"0000629671"	"1"	"70"	"1"	"26135152"	"26135152"	"del"	"0"	"00006"	"SEPN1_000145"	"g.26135152del"	"1/209 cases"	"{PMID:Park 2017:27363342}"	""	"618delC"	"no variant 2nd allele"	"Germline"	""	""	"0"	""	""	"g.25808661del"	""	"likely pathogenic (recessive)"	""
"0000646784"	"1"	"50"	"1"	"26135246"	"26135247"	"dup"	"0"	"00006"	"SEPN1_000146"	"g.26135246_26135247dup"	"1/94 cases"	"{PMID:Punetha 2016:27854218}"	""	""	""	"Germline/De novo (untested)"	""	""	"0"	""	""	"g.25808755_25808756dup"	""	"VUS"	""
"0000647138"	"0"	"50"	"1"	"26142168"	"26142170"	"del"	"0"	"01807"	"SEPN1_000147"	"g.26142168_26142170del"	""	""	""	""	""	"Unknown"	""	""	"0"	""	""	"g.25815677_25815679del"	""	"VUS"	""
"0000647661"	"1"	"50"	"1"	"26131638"	"26131638"	"subst"	"0.0128862"	"03575"	"SEPN1_000048"	"g.26131638A>G"	"46/2794 individuals"	"{PMID:Narang 2020:32906206}, {DOI:Narang 2020:10.1002/humu.24102}"	""	""	"conflicting interpretations of pathogenicity; 46 heterozygous, no homozygous; {DB:CLININrs35019869}"	"Germline"	""	"rs35019869"	"0"	""	""	"g.25805147A>G"	""	"VUS"	""
"0000647662"	"1"	"50"	"1"	"26135083"	"26135083"	"subst"	"0.000678487"	"03575"	"SEPN1_000148"	"g.26135083G>C"	"1/2794 individuals"	"{PMID:Narang 2020:32906206}, {DOI:Narang 2020:10.1002/humu.24102}"	""	""	"conflicting interpretations of pathogenicity; 1 heterozygous, no homozygous; {DB:CLININrs199742668}"	"Germline"	""	"rs199742668"	"0"	""	""	"g.25808592G>C"	""	"VUS"	""
"0000647663"	"1"	"10"	"1"	"26135116"	"26135116"	"subst"	"0.00996831"	"03575"	"SEPN1_000007"	"g.26135116G>A"	"51/2793 individuals"	"{PMID:Narang 2020:32906206}, {DOI:Narang 2020:10.1002/humu.24102}"	""	""	"51 heterozygous, no homozygous; {DB:CLININrs115852080}"	"Germline"	""	"rs115852080"	"0"	""	""	"g.25808625G>A"	""	"benign"	""
"0000647664"	"1"	"90"	"1"	"26138185"	"26138185"	"subst"	"0"	"03575"	"SEPN1_000149"	"g.26138185G>T"	"76/2794 individuals"	"{PMID:Narang 2020:32906206}, {DOI:Narang 2020:10.1002/humu.24102}"	""	""	"76 heterozygous, no homozygous; {DB:CLININrs794727976}"	"Germline"	""	"rs794727976"	"0"	""	""	"g.25811694G>T"	""	"pathogenic"	""
"0000647665"	"1"	"90"	"1"	"26139211"	"26139211"	"subst"	"2.86247E-5"	"03575"	"SEPN1_000015"	"g.26139211C>T"	"1/2794 individuals"	"{PMID:Narang 2020:32906206}, {DOI:Narang 2020:10.1002/humu.24102}"	""	""	"1 heterozygous, no homozygous; {DB:CLININrs377215510}"	"Germline"	""	"rs377215510"	"0"	""	""	"g.25812720C>T"	""	"pathogenic"	""
"0000647666"	"1"	"70"	"1"	"26140381"	"26140381"	"subst"	"4.87849E-5"	"03575"	"SEPN1_000020"	"g.26140381G>A"	"1/2791 individuals"	"{PMID:Narang 2020:32906206}, {DOI:Narang 2020:10.1002/humu.24102}"	""	""	"1 heterozygous, no homozygous; {DB:CLININrs121908185}"	"Germline"	""	"rs121908185"	"0"	""	""	"g.25813890G>A"	""	"likely pathogenic"	""
"0000647667"	"1"	"50"	"1"	"26142081"	"26142081"	"subst"	"0.0026642"	"03575"	"SEPN1_000034"	"g.26142081G>A"	"41/2795 individuals"	"{PMID:Narang 2020:32906206}, {DOI:Narang 2020:10.1002/humu.24102}"	""	""	"conflicting interpretations of pathogenicity; 41 heterozygous; {DB:CLININrs147131452}"	"Germline"	""	"rs147131452"	"0"	""	""	"g.25815590G>A"	""	"VUS"	""
"0000669012"	"3"	"50"	"1"	"26142081"	"26142081"	"subst"	"0.0026642"	"03575"	"SEPN1_000034"	"g.26142081G>A"	"2/2795 individuals"	"{PMID:Narang 2020:32906206}, {DOI:Narang 2020:10.1002/humu.24102}"	""	""	"conflicting interpretations of pathogenicity; 2 homozygous; {DB:CLININrs147131452}"	"Germline"	""	"rs147131452"	"0"	""	""	"g.25815590G>A"	""	"VUS"	""
"0000675797"	"0"	"70"	"1"	"26128607"	"26128610"	"del"	"0"	"01943"	"SEPN1_000066"	"g.26128607_26128610del"	""	""	""	"SELENON(NM_020451.2):c.401_403+1delTGAG"	"VKGL data sharing initiative Nederland"	"CLASSIFICATION record"	""	""	""	""	""	""	""	"likely pathogenic"	""
"0000675798"	"0"	"50"	"1"	"26140411"	"26140411"	"subst"	"2.03181E-5"	"02325"	"SEPN1_000142"	"g.26140411C>T"	""	""	""	"SELENON(NM_020451.3):c.1427C>T (p.S476L), SEPN1(NM_020451.2):c.1427C>T (p.(Ser476Leu))"	"VKGL data sharing initiative Nederland"	"CLASSIFICATION record"	""	""	""	""	""	""	""	"VUS"	""
"0000688121"	"0"	"30"	"1"	"26131644"	"26131644"	"subst"	"0.000809325"	"02326"	"SEPN1_000028"	"g.26131644G>A"	""	""	""	"SELENON(NM_020451.3):c.415G>A (p.A139T), SEPN1(NM_020451.2):c.415G>A (p.(Ala139Thr))"	"VKGL data sharing initiative Nederland"	"CLASSIFICATION record"	""	""	""	""	""	""	""	"likely benign"	""
"0000697709"	"0"	"70"	"1"	"26127622"	"26127623"	"ins"	"0"	"00006"	"SEPN1_000151"	"g.26127622_26127623insCTGAT"	"2/1001 cases"	"{PMID:Topf 2020:32528171}"	""	""	"combination of variants not reported"	"Germline"	""	""	"0"	""	""	"g.25801131_25801132insCTGAT"	""	"likely pathogenic"	""
"0000697710"	"0"	"70"	"1"	"26135098"	"26135098"	"subst"	"8.16213E-6"	"00006"	"SEPN1_000130"	"g.26135098C>T"	"2/1001 cases"	"{PMID:Topf 2020:32528171}"	""	""	"combination of variants not reported"	"Germline"	""	""	"0"	""	""	"g.25808607C>T"	""	"likely pathogenic"	""
"0000697711"	"0"	"70"	"1"	"26142171"	"26142171"	"subst"	"4.06161E-6"	"00006"	"SEPN1_000152"	"g.26142171G>A"	"1/1001 cases"	"{PMID:Topf 2020:32528171}"	""	""	"combination of variants not reported"	"Germline"	""	""	"0"	""	""	"g.25815680G>A"	""	"likely pathogenic"	""
"0000703913"	"0"	"70"	"1"	"26126700"	"26126793"	"del"	"0"	"00006"	"SEPN1_000050"	"g.26126700_26126793del"	"1/132 cases"	"{PMID:Villar-Quiles 2020:32796131}"	""	"-25_69del"	"combination of variants not reported"	"Germline"	""	""	"0"	""	""	"g.25800209_25800302del"	""	"likely pathogenic (recessive)"	""
"0000703914"	"0"	"70"	"1"	"26126711"	"26126802"	"del"	"0"	"00006"	"SEPN1_000001"	"g.26126711_26126802del"	"11/132 cases"	"{PMID:Villar-Quiles 2020:32796131}"	""	"-19_73del"	"combination of variants not reported"	"Germline"	""	""	"0"	""	""	"g.25800220_25800311del"	""	"likely pathogenic (recessive)"	""
"0000703915"	"0"	"70"	"1"	"26126722"	"26126722"	"subst"	"0"	"00006"	"SEPN1_000002"	"g.26126722A>G"	"20/132 cases"	"{PMID:Villar-Quiles 2020:32796131}"	""	""	"combination of variants not reported"	"Germline"	""	"rs121908184"	"0"	""	""	"g.25800231A>G"	""	"likely pathogenic (recessive)"	""
"0000703916"	"0"	"70"	"1"	"26126734"	"26126743"	"dup"	"0"	"00006"	"SEPN1_000003"	"g.26126734_26126743dup"	"12/132 cases"	"{PMID:Villar-Quiles 2020:32796131}"	""	"8_17dup"	"combination of variants not reported"	"Germline"	""	"rs970951421"	"0"	""	""	"g.25800243_25800252dup"	""	"likely pathogenic (recessive)"	""
"0000703917"	"0"	"70"	"1"	"26126729"	"26126733"	"dup"	"0"	"00006"	"SEPN1_000153"	"g.26126729_26126733dup"	"1/132 cases"	"{PMID:Villar-Quiles 2020:32796131}"	""	""	"combination of variants not reported"	"Germline"	""	""	"0"	""	""	"g.25800238_25800242dup"	""	"likely pathogenic (recessive)"	""
"0000703918"	"0"	"70"	"1"	"26126765"	"26126793"	"dup"	"0"	"00006"	"SEPN1_000059"	"g.26126765_26126793dup"	"2/132 cases"	"{PMID:Villar-Quiles 2020:32796131}"	""	""	"combination of variants not reported"	"Germline"	""	"rs797044620"	"0"	""	""	"g.25800274_25800302dup"	""	"likely pathogenic (recessive)"	""
"0000703919"	"0"	"70"	"1"	"26126790"	"26126797"	"dup"	"0"	"00006"	"SEPN1_000154"	"g.26126790_26126797dup"	"2/132 cases"	"{PMID:Villar-Quiles 2020:32796131}"	""	"66_73dup"	"combination of variants not reported"	"Germline"	""	"rs911937146"	"0"	""	""	"g.25800299_25800306dup"	""	"likely pathogenic (recessive)"	""
"0000703920"	"0"	"70"	"1"	"26126798"	"26126805"	"dup"	"0"	"00006"	"SEPN1_000155"	"g.26126798_26126805dup"	"2/132 cases"	"{PMID:Villar-Quiles 2020:32796131}"	""	""	"combination of variants not reported"	"Germline"	""	""	"0"	""	""	"g.25800307_25800314dup"	""	"likely pathogenic (recessive)"	""
"0000703921"	"0"	"70"	"1"	"26126863"	"26126863"	"del"	"0"	"00006"	"SEPN1_000156"	"g.26126863del"	"1/132 cases"	"{PMID:Villar-Quiles 2020:32796131}"	""	""	"combination of variants not reported"	"Germline"	""	""	"0"	""	""	"g.25800372del"	""	"likely pathogenic (recessive)"	""
"0000703922"	"0"	"70"	"1"	"26127599"	"26127600"	"dup"	"0"	"00006"	"SEPN1_000056"	"g.26127599_26127600dup"	"1/132 cases"	"{PMID:Villar-Quiles 2020:32796131}"	""	""	"combination of variants not reported"	"Germline"	""	""	"0"	""	""	"g.25801108_25801109dup"	""	"likely pathogenic (recessive)"	""
"0000703923"	"0"	"70"	"1"	"26127629"	"26127629"	"dup"	"0"	"00006"	"SEPN1_000157"	"g.26127629dup"	"1/132 cases"	"{PMID:Villar-Quiles 2020:32796131}"	""	"277dupA"	"combination of variants not reported"	"Germline"	""	""	"0"	""	""	"g.25801138dup"	""	"likely pathogenic (recessive)"	""
"0000703924"	"0"	"70"	"1"	"26131670"	"26131670"	"dup"	"0"	"00006"	"SEPN1_000158"	"g.26131670dup"	"2/132 cases"	"{PMID:Villar-Quiles 2020:32796131}"	""	""	"combination of variants not reported"	"Germline"	""	""	"0"	""	""	"g.25805179dup"	""	"likely pathogenic (recessive)"	""
"0000703925"	"0"	"70"	"1"	"26131696"	"26131696"	"subst"	"0"	"00006"	"SEPN1_000159"	"g.26131696T>C"	"1/132 cases"	"{PMID:Villar-Quiles 2020:32796131}"	""	""	"combination of variants not reported"	"Germline"	""	""	"0"	""	""	"g.25805205T>C"	""	"likely pathogenic (recessive)"	""
"0000703926"	"0"	"70"	"1"	"26131702"	"26131702"	"subst"	"0"	"00006"	"SEPN1_000160"	"g.26131702T>G"	"1/132 cases"	"{PMID:Villar-Quiles 2020:32796131}"	""	""	"combination of variants not reported"	"Germline"	""	""	"0"	""	""	"g.25805211T>G"	""	"likely pathogenic (recessive)"	""
"0000703927"	"0"	"70"	"1"	"26135098"	"26135098"	"subst"	"8.16213E-6"	"00006"	"SEPN1_000130"	"g.26135098C>T"	"1/132 cases"	"{PMID:Villar-Quiles 2020:32796131}"	""	""	"combination of variants not reported"	"Germline"	""	"rs775713184"	"0"	""	""	"g.25808607C>T"	""	"likely pathogenic (recessive)"	""
"0000703928"	"0"	"70"	"1"	"26135198"	"26135198"	"subst"	"0"	"00006"	"SEPN1_000161"	"g.26135198G>A"	"1/132 cases"	"{PMID:Villar-Quiles 2020:32796131}"	""	""	"combination of variants not reported"	"Germline"	""	""	"0"	""	""	"g.25808707G>A"	""	"likely pathogenic (recessive)"	""
"0000703929"	"0"	"70"	"1"	"26135216"	"26135222"	"dup"	"0"	"00006"	"SEPN1_000117"	"g.26135216_26135222dup"	"9/132 cases"	"{PMID:Villar-Quiles 2020:32796131}"	""	""	"combination of variants not reported"	"Germline"	""	""	"0"	""	""	"g.25808725_25808731dup"	""	"likely pathogenic (recessive)"	""
"0000703930"	"0"	"70"	"1"	"26135246"	"26135246"	"dup"	"0"	"00006"	"SEPN1_000008"	"g.26135246dup"	"15/132 cases"	"{PMID:Villar-Quiles 2020:32796131}"	""	""	"combination of variants not reported"	"Germline"	""	"rs750857935"	"0"	""	""	"g.25808755dup"	""	"likely pathogenic (recessive)"	""
"0000703931"	"0"	"70"	"1"	"26135247"	"26135248"	"ins"	"0"	"00006"	"SEPN1_000064"	"g.26135247_26135248insA"	"1/132 cases"	"{PMID:Villar-Quiles 2020:32796131}"	""	""	"combination of variants not reported"	"Germline"	""	""	"0"	""	""	"g.25808756_25808757insA"	""	"likely pathogenic (recessive)"	""
"0000703932"	"0"	"70"	"1"	"26135571"	"26135571"	"subst"	"8.12896E-6"	"00006"	"SEPN1_000083"	"g.26135571C>T"	"1/132 cases"	"{PMID:Villar-Quiles 2020:32796131}"	""	""	"combination of variants not reported"	"Germline"	""	"rs368074297"	"0"	""	""	"g.25809080C>T"	""	"likely pathogenic (recessive)"	""
"0000703933"	"0"	"70"	"1"	"26135572"	"26135572"	"subst"	"0"	"00006"	"SEPN1_000116"	"g.26135572G>A"	"1/132 cases"	"{PMID:Villar-Quiles 2020:32796131}"	""	""	"combination of variants not reported"	"Germline"	""	""	"0"	""	""	"g.25809081G>A"	""	"likely pathogenic (recessive)"	""
"0000703934"	"0"	"70"	"1"	"26135587"	"26135587"	"subst"	"0"	"00006"	"SEPN1_000162"	"g.26135587G>A"	"8/132 cases"	"{PMID:Villar-Quiles 2020:32796131}"	""	""	"combination of variants not reported"	"Germline"	""	"rs121908182"	"0"	""	""	"g.25809096G>A"	""	"likely pathogenic (recessive)"	""
"0000703935"	"0"	"70"	"1"	"26135596"	"26135598"	"dup"	"0"	"00006"	"SEPN1_000136"	"g.26135596_26135598dup"	"1/132 cases"	"{PMID:Villar-Quiles 2020:32796131}"	""	""	"combination of variants not reported"	"Germline"	""	"rs797045950"	"0"	""	""	"g.25809105_25809107dup"	""	"likely pathogenic (recessive)"	""
"0000703936"	"0"	"70"	"1"	"26135632"	"26135633"	"del"	"0"	"00006"	"SEPN1_000053"	"g.26135632_26135633del"	"2/132 cases"	"{PMID:Villar-Quiles 2020:32796131}"	""	""	"combination of variants not reported"	"Germline"	""	""	"0"	""	""	"g.25809141_25809142del"	""	"likely pathogenic (recessive)"	""
"0000703937"	"0"	"70"	"1"	"26135640"	"26135640"	"subst"	"8.13478E-6"	"00006"	"SEPN1_000076"	"g.26135640C>T"	"1/132 cases"	"{PMID:Villar-Quiles 2020:32796131}"	""	""	"combination of variants not reported"	"Germline"	""	"rs757446463"	"0"	""	""	"g.25809149C>T"	""	"likely pathogenic (recessive)"	""
"0000703938"	"0"	"70"	"1"	"26135641"	"26135641"	"subst"	"1.22016E-5"	"00006"	"SEPN1_000039"	"g.26135641G>A"	"5/132 cases"	"{PMID:Villar-Quiles 2020:32796131}"	""	""	"combination of variants not reported"	"Germline"	""	"rs199564797"	"0"	""	""	"g.25809150G>A"	""	"likely pathogenic (recessive)"	""
"0000703939"	"0"	"70"	"1"	"0"	"0"	""	"0"	"00006"	"NPHS2_000000"	"g.?"	"1/132 cases"	"{PMID:Villar-Quiles 2020:32796131}"	""	""	"combination of variants not reported"	"Germline"	""	""	"0"	""	""	""	""	"likely pathogenic (recessive)"	""
"0000703940"	"0"	"70"	"1"	"26136179"	"26136179"	"subst"	"8.12843E-6"	"00006"	"SEPN1_000010"	"g.26136179A>G"	"5/132 cases"	"{PMID:Villar-Quiles 2020:32796131}"	""	""	"combination of variants not reported"	"Germline"	""	"rs776738184"	"0"	""	""	"g.25809688A>G"	""	"likely pathogenic (recessive)"	""
"0000703941"	"0"	"70"	"1"	"26136184"	"26136184"	"subst"	"0"	"00006"	"SEPN1_000088"	"g.26136184G>A"	"2/132 cases"	"{PMID:Villar-Quiles 2020:32796131}"	""	""	"combination of variants not reported"	"Germline"	""	"rs978886878"	"0"	""	""	"g.25809693G>A"	""	"likely pathogenic (recessive)"	""
"0000703942"	"0"	"70"	"1"	"26136244"	"26136244"	"subst"	"0.000186855"	"00006"	"SEPN1_000011"	"g.26136244G>A"	"17/132 cases"	"{PMID:Villar-Quiles 2020:32796131}"	""	""	"combination of variants not reported"	"Germline"	""	"rs121908188"	"0"	""	""	"g.25809753G>A"	""	"likely pathogenic (recessive)"	""
"0000703943"	"0"	"70"	"1"	"26136253"	"26136253"	"del"	"0"	"00006"	"SEPN1_000164"	"g.26136253del"	"1/132 cases"	"{PMID:Villar-Quiles 2020:32796131}"	""	""	"combination of variants not reported"	"Germline"	""	""	"0"	""	""	"g.25809762del"	""	"likely pathogenic (recessive)"	""
"0000703944"	"0"	"70"	"1"	"26136277"	"26136277"	"subst"	"2.03171E-5"	"00006"	"SEPN1_000165"	"g.26136277G>A"	"1/132 cases"	"{PMID:Villar-Quiles 2020:32796131}"	""	""	"combination of variants not reported"	"Germline"	""	"rs764032922"	"0"	""	""	"g.25809786G>A"	""	"likely pathogenic (recessive)"	""
"0000703945"	"0"	"70"	"1"	"26136298"	"26136301"	"del"	"0"	"00006"	"SEPN1_000065"	"g.26136298_26136301del"	"3/132 cases"	"{PMID:Villar-Quiles 2020:32796131}"	""	"996_999del"	"combination of variants not reported"	"Germline"	""	"rs886041686"	"0"	""	""	"g.25809807_25809810del"	""	"likely pathogenic (recessive)"	""
"0000703946"	"0"	"70"	"1"	"26137953"	"26137953"	"subst"	"0"	"00006"	"SEPN1_000013"	"g.26137953A>T"	"2/132 cases"	"{PMID:Villar-Quiles 2020:32796131}"	""	""	"combination of variants not reported"	"Germline"	""	"rs749911126"	"0"	""	""	"g.25811462A>T"	""	"likely pathogenic (recessive)"	""
"0000703947"	"0"	"70"	"1"	"26138010"	"26138010"	"subst"	"0"	"00006"	"SEPN1_000062"	"g.26138010T>C"	"1/132 cases"	"{PMID:Villar-Quiles 2020:32796131}"	""	""	"combination of variants not reported"	"Germline"	""	""	"0"	""	""	"g.25811519T>C"	""	"likely pathogenic (recessive)"	""
"0000703948"	"0"	"70"	"1"	"26138265"	"26138265"	"del"	"9.67989E-6"	"00006"	"SEPN1_000169"	"g.26138265del"	"1/132 cases"	"{PMID:Villar-Quiles 2020:32796131}"	""	""	"combination of variants not reported"	"Germline"	""	""	"0"	""	""	"g.25811774del"	""	"likely pathogenic (recessive)"	""
"0000703949"	"0"	"70"	"1"	"26138278"	"26138278"	"subst"	"0"	"00006"	"SEPN1_000170"	"g.26138278C>T"	"1/132 cases"	"{PMID:Villar-Quiles 2020:32796131}"	""	""	"combination of variants not reported"	"Germline"	""	""	"0"	""	""	"g.25811787C>T"	""	"likely pathogenic (recessive)"	""
"0000703950"	"0"	"70"	"1"	"26138358"	"26138358"	"subst"	"0"	"00006"	"SEPN1_000171"	"g.26138358C>A"	"1/132 cases"	"{PMID:Villar-Quiles 2020:32796131}"	""	""	"combination of variants not reported"	"Germline"	""	""	"0"	""	""	"g.25811867C>A"	""	"likely pathogenic (recessive)"	""
"0000703951"	"0"	"70"	"1"	"26139211"	"26139211"	"del"	"0"	"00006"	"SEPN1_000172"	"g.26139211del"	"1/132 cases"	"{PMID:Villar-Quiles 2020:32796131}"	""	""	"combination of variants not reported"	"Germline"	""	""	"0"	""	""	"g.25812720del"	""	"likely pathogenic (recessive)"	""
"0000703952"	"0"	"70"	"1"	"26139211"	"26139211"	"subst"	"2.86247E-5"	"00006"	"SEPN1_000015"	"g.26139211C>T"	"4/132 cases"	"{PMID:Villar-Quiles 2020:32796131}"	""	""	"combination of variants not reported"	"Germline"	""	"rs377215510"	"0"	""	""	"g.25812720C>T"	""	"likely pathogenic (recessive)"	""
"0000703953"	"0"	"70"	"1"	"26139254"	"26139254"	"subst"	"4.09142E-6"	"00006"	"SEPN1_000016"	"g.26139254G>C"	"2/132 cases"	"{PMID:Villar-Quiles 2020:32796131}"	""	""	"combination of variants not reported"	"Germline"	""	"rs121908186"	"0"	""	""	"g.25812763G>C"	""	"likely pathogenic (recessive)"	""
"0000703954"	"0"	"70"	"1"	"26139275"	"26139275"	"subst"	"8.2335E-6"	"00006"	"SEPN1_000173"	"g.26139275C>T"	"1/132 cases"	"{PMID:Villar-Quiles 2020:32796131}"	""	""	"combination of variants not reported"	"Germline"	""	"rs767530943"	"0"	""	""	"g.25812784C>T"	""	"likely pathogenic (recessive)"	""
"0000703955"	"0"	"70"	"1"	"26140372"	"26140372"	"subst"	"0"	"00006"	"SEPN1_000051"	"g.26140372G>T"	"1/132 cases"	"{PMID:Villar-Quiles 2020:32796131}"	""	""	"combination of variants not reported"	"Germline"	""	""	"0"	""	""	"g.25813881G>T"	""	"likely pathogenic (recessive)"	""
"0000703956"	"0"	"70"	"1"	"26140380"	"26140380"	"subst"	"8.13068E-6"	"00006"	"SEPN1_000090"	"g.26140380C>T"	"1/132 cases"	"{PMID:Villar-Quiles 2020:32796131}"	""	""	"combination of variants not reported"	"Germline"	""	"rs752156505"	"0"	""	""	"g.25813889C>T"	""	"likely pathogenic (recessive)"	""
"0000703957"	"0"	"70"	"1"	"26140381"	"26140381"	"subst"	"4.87849E-5"	"00006"	"SEPN1_000020"	"g.26140381G>A"	"15/132 cases"	"{PMID:Villar-Quiles 2020:32796131}"	""	""	"combination of variants not reported"	"Germline"	""	"rs121908185"	"0"	""	""	"g.25813890G>A"	""	"likely pathogenic (recessive)"	""
"0000703958"	"0"	"70"	"1"	"26140389"	"26140389"	"subst"	"8.12968E-6"	"00006"	"SEPN1_000026"	"g.26140389C>T"	"1/132 cases"	"{PMID:Villar-Quiles 2020:32796131}"	""	""	"combination of variants not reported"	"Germline"	""	"rs756927098"	"0"	""	""	"g.25813898C>T"	""	"likely pathogenic (recessive)"	""
"0000703959"	"0"	"70"	"1"	"26140390"	"26140390"	"subst"	"1.21941E-5"	"00006"	"SEPN1_000052"	"g.26140390G>A"	"2/132 cases"	"{PMID:Villar-Quiles 2020:32796131}"	""	""	"combination of variants not reported"	"Germline"	""	"rs779162837"	"0"	""	""	"g.25813899G>A"	""	"likely pathogenic (recessive)"	""
"0000703960"	"0"	"70"	"1"	"26140430"	"26140430"	"del"	"0"	"00006"	"SEPN1_000021"	"g.26140430del"	"4/132 cases"	"{PMID:Villar-Quiles 2020:32796131}"	""	""	"combination of variants not reported"	"Germline"	""	""	"0"	""	""	"g.25813939del"	""	"likely pathogenic (recessive)"	""
"0000703961"	"0"	"70"	"1"	"26140453"	"26140453"	"subst"	"0"	"00006"	"SEPN1_000054"	"g.26140453G>T"	"2/132 cases"	"{PMID:Villar-Quiles 2020:32796131}"	""	""	"combination of variants not reported"	"Germline"	""	""	"0"	""	""	"g.25813962G>T"	""	"likely pathogenic (recessive)"	""
"0000703962"	"0"	"70"	"1"	"26140641"	"26140641"	"subst"	"3.65788E-5"	"00006"	"SEPN1_000045"	"g.26140641T>G"	"1/132 cases"	"{PMID:Villar-Quiles 2020:32796131}"	""	""	"combination of variants not reported"	"Germline"	""	"rs761631813"	"0"	""	""	"g.25814150T>G"	""	"likely pathogenic (recessive)"	""
"0000703963"	"0"	"70"	"1"	"26142140"	"26142141"	"del"	"0"	"00006"	"SEPN1_000174"	"g.26142140_26142141del"	"1/132 cases"	"{PMID:Villar-Quiles 2020:32796131}"	""	""	"combination of variants not reported"	"Germline"	""	""	"0"	""	""	"g.25815649_25815650del"	""	"likely pathogenic (recessive)"	""
"0000703964"	"0"	"70"	"1"	"26143316"	"26143316"	"subst"	"0"	"00006"	"SEPN1_000023"	"g.26143316T>C"	"1/132 cases"	"{PMID:Villar-Quiles 2020:32796131}"	""	""	"combination of variants not reported"	"Germline"	""	""	"0"	""	""	"g.25816825T>C"	""	"likely pathogenic (recessive)"	""
"0000703965"	"0"	"70"	"1"	"26136313"	"26136313"	"subst"	"0"	"00006"	"SEPN1_000166"	"g.26136313T>G"	"1/132 cases"	"{PMID:Villar-Quiles 2020:32796131}"	""	""	"combination of variants not reported"	"Germline"	""	""	"0"	""	""	"g.25809822T>G"	""	"likely pathogenic (recessive)"	""
"0000703966"	"0"	"70"	"1"	"26138181"	"26138181"	"subst"	"0"	"00006"	"SEPN1_000168"	"g.26138181G>T"	"1/132 cases"	"{PMID:Villar-Quiles 2020:32796131}"	""	""	"combination of variants not reported"	"Germline"	""	""	"0"	""	""	"g.25811690G>T"	""	"likely pathogenic (recessive)"	""
"0000703967"	"0"	"70"	"1"	"26138141"	"26138142"	"ins"	"0"	"00006"	"SEPN1_000167"	"g.26138141_26138142insTT"	"1/132 cases"	"{PMID:Villar-Quiles 2020:32796131}"	""	""	"combination of variants not reported"	"Germline"	""	""	"0"	""	""	"g.25811650_25811651insTT"	""	"likely pathogenic (recessive)"	""
"0000703968"	"0"	"70"	"1"	"26142037"	"26142037"	"subst"	"0"	"00006"	"SEPN1_000024"	"g.26142037A>G"	"1/132 cases"	"{PMID:Villar-Quiles 2020:32796131}"	""	""	"combination of variants not reported"	"Germline"	""	""	"0"	""	""	"g.25815546A>G"	""	"likely pathogenic (recessive)"	""
"0000703969"	"0"	"70"	"1"	"26131632"	"26131632"	"subst"	"0"	"00006"	"SEPN1_000129"	"g.26131632G>A"	"1/132 cases"	"{PMID:Villar-Quiles 2020:32796131}"	""	""	"combination of variants not reported"	"Germline"	""	""	"0"	""	""	"g.25805141G>A"	""	"likely pathogenic (recessive)"	""
"0000703970"	"0"	"70"	"1"	"26136173"	"26136173"	"subst"	"0"	"00006"	"SEPN1_000163"	"g.26136173G>C"	"2/132 cases"	"{PMID:Villar-Quiles 2020:32796131}"	""	""	"combination of variants not reported"	"Germline"	""	""	"0"	""	""	"g.25809682G>C"	""	"likely pathogenic (recessive)"	""
"0000714912"	"3"	"90"	"1"	"26136252"	"26136252"	"del"	"0"	"03361"	"SEPN1_000175"	"g.26136252del"	""	""	""	"951delC"	"ACMG PVS1+PM2+PP4"	"Germline"	""	""	"0"	""	""	"g.25809761del"	""	"pathogenic"	"ACMG"
"0000717401"	"0"	"50"	"1"	"26138295"	"26138295"	"subst"	"0"	"02329"	"SEPN1_000125"	"g.26138295G>C"	""	""	""	"SELENON(NM_020451.3):c.1206G>C (p.E402D)"	"VKGL data sharing initiative Nederland"	"CLASSIFICATION record"	""	""	""	""	""	""	""	"VUS"	""
"0000787023"	"1"	"90"	"1"	"26127599"	"26127600"	"dup"	"0"	"00006"	"SEPN1_000056"	"g.26127599_26127600dup"	""	"{PMID:Ganapathy 2019:31069529}"	""	"c.249_250dupGG"	""	"Germline"	""	""	"0"	""	""	"g.25801108_25801109dup"	""	"pathogenic"	""
"0000787025"	"1"	"70"	"1"	"26135596"	"26135598"	"dup"	"0"	"00006"	"SEPN1_000136"	"g.26135596_26135598dup"	""	"{PMID:Ganapathy 2019:31069529}"	""	"c.827_829dupCCT"	""	"Germline"	""	""	"0"	""	""	"g.25809105_25809107dup"	""	"likely pathogenic"	""
"0000787521"	"2"	"90"	"1"	"26136300"	"26136300"	"del"	"0"	"00000"	"SEPN1_000176"	"g.26136300del"	""	"0"	""	"c.999delG"	""	"Germline"	""	""	"0"	""	""	"g.25809809del"	""	"pathogenic"	""
"0000787523"	"2"	"90"	"1"	"26139176"	"26139176"	"subst"	"0"	"00000"	"SEPN1_000040"	"g.26139176A>C"	""	"0"	""	""	""	"Germline"	""	""	"0"	""	""	"g.25812685A>C"	""	"pathogenic"	""
"0000799284"	"0"	"10"	"1"	"26126763"	"26126763"	"subst"	"0.00483092"	"02327"	"SEPN1_000036"	"g.26126763C>T"	""	""	""	""	"VKGL data sharing initiative Nederland"	"CLASSIFICATION record"	""	""	""	""	""	""	""	"benign"	""
"0000799285"	"0"	"50"	"1"	"26140411"	"26140411"	"subst"	"2.03181E-5"	"02329"	"SEPN1_000142"	"g.26140411C>T"	""	""	""	"SELENON(NM_020451.3):c.1427C>T (p.S476L), SEPN1(NM_020451.2):c.1427C>T (p.(Ser476Leu))"	"VKGL data sharing initiative Nederland"	"CLASSIFICATION record"	""	""	""	""	""	""	""	"VUS"	""
"0000832950"	"1"	"90"	"1"	"26127652"	"26127652"	"subst"	"0"	"00006"	"SEPN1_000177"	"g.26127652G>T"	""	"{PMID:Natera-de Benito 2021:33333461}"	""	""	"ACMG PVS1, PM2, PM3, PM5"	"Germline"	""	""	"0"	""	""	"g.25801161G>T"	""	"pathogenic (recessive)"	"ACMG"
"0000832951"	"3"	"90"	"1"	"26136252"	"26136252"	"del"	"0"	"00006"	"SEPN1_000175"	"g.26136252del"	""	"{PMID:Natera-de Benito 2021:33333461}"	""	"951delC"	"ACMG PVS1, PM2, PM3"	"Germline"	""	""	"0"	""	""	"g.25809761del"	""	"pathogenic (recessive)"	"ACMG"
"0000832952"	"3"	"90"	"1"	"26136252"	"26136252"	"del"	"0"	"00006"	"SEPN1_000175"	"g.26136252del"	""	"{PMID:Natera-de Benito 2021:33333461}"	""	"951delC"	"ACMG PVS1, PM2, PM3"	"Germline"	""	""	"0"	""	""	"g.25809761del"	""	"pathogenic (recessive)"	"ACMG"
"0000832953"	"3"	"70"	"1"	"26136244"	"26136244"	"subst"	"0"	"00006"	"SEPN1_000179"	"g.26136244G>C"	""	"{PMID:Natera-de Benito 2021:33333461}"	""	""	"ACMG PM2, PM3, PM5, PP3"	"Germline"	""	""	"0"	""	""	"g.25809753G>C"	""	"likely pathogenic (recessive)"	"ACMG"
"0000832954"	"1"	"90"	"1"	"26131632"	"26131632"	"subst"	"0"	"00006"	"SEPN1_000129"	"g.26131632G>A"	""	"{PMID:Natera-de Benito 2021:33333461}"	""	""	"ACMG PVS1, PM2, PM3"	"Germline"	""	""	"0"	""	""	"g.25805141G>A"	""	"pathogenic (recessive)"	"ACMG"
"0000832955"	"3"	"70"	"1"	"26136178"	"26136178"	"subst"	"0"	"00006"	"SEPN1_000178"	"g.26136178C>T"	""	"{PMID:Natera-de Benito 2021:33333461}"	""	""	"ACMG PM2, PM3, PM5, PP3"	"Germline"	""	""	"0"	""	""	"g.25809687C>T"	""	"likely pathogenic (recessive)"	"ACMG"
"0000832956"	"3"	"70"	"1"	"26136178"	"26136178"	"subst"	"0"	"00006"	"SEPN1_000178"	"g.26136178C>T"	""	"{PMID:Natera-de Benito 2021:33333461}"	""	""	"ACMG PM2, PM3, PM5, PP3"	"Germline"	""	""	"0"	""	""	"g.25809687C>T"	""	"likely pathogenic (recessive)"	"ACMG"
"0000832999"	"2"	"90"	"1"	"26138358"	"26138358"	"subst"	"0"	"00006"	"SEPN1_000171"	"g.26138358C>A"	""	"{PMID:Natera-de Benito 2021:33333461}"	""	""	"ACMG PVS1, PM2, PM3"	"Germline"	""	""	"0"	""	""	"g.25811867C>A"	""	"pathogenic (recessive)"	"ACMG"
"0000833000"	"2"	"90"	"1"	"26138278"	"26138278"	"subst"	"0"	"00006"	"SEPN1_000170"	"g.26138278C>T"	""	"{PMID:Natera-de Benito 2021:33333461}"	""	""	"ACMG PVS1, PM2, PM3"	"Germline"	""	""	"0"	""	""	"g.25811787C>T"	""	"pathogenic (recessive)"	"ACMG"
"0000833087"	"1"	"70"	"1"	"26138278"	"26138278"	"subst"	"0"	"00006"	"SEPN1_000170"	"g.26138278C>T"	""	"{PMID:Gonzalez-Quereda 2020:32403337}"	""	""	""	"Germline"	""	""	"0"	""	""	"g.25811787C>T"	""	"likely pathogenic"	""
"0000833180"	"2"	"70"	"1"	"26131632"	"26131632"	"subst"	"0"	"00006"	"SEPN1_000129"	"g.26131632G>A"	""	"{PMID:Gonzalez-Quereda 2020:32403337}"	""	""	""	"Germline"	""	""	"0"	""	""	"g.25805141G>A"	""	"likely pathogenic"	""
"0000847028"	"0"	"90"	"1"	"26126722"	"26126722"	"subst"	"0"	"03779"	"SEPN1_000002"	"g.26126722A>G"	""	""	""	""	""	"CLASSIFICATION record"	""	"rs121908184"	"0"	""	""	""	""	"pathogenic"	""
"0000857422"	"0"	"50"	"1"	"26131644"	"26131644"	"subst"	"0.000809325"	"01804"	"SEPN1_000028"	"g.26131644G>A"	""	""	""	"SELENON(NM_020451.3):c.415G>A (p.A139T), SEPN1(NM_020451.2):c.415G>A (p.(Ala139Thr))"	"VKGL data sharing initiative Nederland"	"CLASSIFICATION record"	""	""	""	""	""	""	""	"VUS"	""
"0000857423"	"0"	"50"	"1"	"26135083"	"26135083"	"subst"	"0.000678487"	"01804"	"SEPN1_000148"	"g.26135083G>C"	""	""	""	"SEPN1(NM_020451.2):c.550G>C (p.(Ala184Pro))"	"VKGL data sharing initiative Nederland"	"CLASSIFICATION record"	""	""	""	""	""	""	""	"VUS"	""
"0000857424"	"0"	"30"	"1"	"26135208"	"26135208"	"subst"	"1.62488E-5"	"01804"	"SEPN1_000180"	"g.26135208C>T"	""	""	""	"SEPN1(NM_020451.2):c.675C>T (p.(Pro225=))"	"VKGL data sharing initiative Nederland"	"CLASSIFICATION record"	""	""	""	""	""	""	""	"likely benign"	""
"0000857425"	"0"	"30"	"1"	"26138251"	"26138251"	"subst"	"0.000890329"	"01804"	"SEPN1_000115"	"g.26138251A>G"	""	""	""	"SEPN1(NM_020451.2):c.1162A>G (p.(Ser388Gly))"	"VKGL data sharing initiative Nederland"	"CLASSIFICATION record"	""	""	""	""	""	""	""	"likely benign"	""
"0000857426"	"0"	"50"	"1"	"26138280"	"26138280"	"subst"	"1.48703E-5"	"01804"	"SEPN1_000132"	"g.26138280G>T"	""	""	""	"SEPN1(NM_020451.2):c.1191G>T (p.(Gln397His))"	"VKGL data sharing initiative Nederland"	"CLASSIFICATION record"	""	""	""	""	""	""	""	"VUS"	""
"0000857427"	"0"	"50"	"1"	"26138286"	"26138286"	"subst"	"0"	"01804"	"SEPN1_000181"	"g.26138286G>A"	""	""	""	"SEPN1(NM_020451.2):c.1197G>A (p.(=))"	"VKGL data sharing initiative Nederland"	"CLASSIFICATION record"	""	""	""	""	""	""	""	"VUS"	""
"0000857428"	"0"	"30"	"1"	"26139294"	"26139294"	"subst"	"0.00430353"	"01804"	"SEPN1_000109"	"g.26139294C>T"	""	""	""	"SEPN1(NM_020451.2):c.1387+11C>T (p.(=))"	"VKGL data sharing initiative Nederland"	"CLASSIFICATION record"	""	""	""	""	""	""	""	"likely benign"	""
"0000857429"	"0"	"30"	"1"	"26140412"	"26140412"	"subst"	"0.000475455"	"01804"	"SEPN1_000150"	"g.26140412G>A"	""	""	""	"SEPN1(NM_020451.2):c.1428G>A (p.(Ser476=))"	"VKGL data sharing initiative Nederland"	"CLASSIFICATION record"	""	""	""	""	""	""	""	"likely benign"	""
"0000857430"	"0"	"30"	"1"	"26142181"	"26142181"	"subst"	"0.00572088"	"01804"	"SEPN1_000079"	"g.26142181G>A"	""	""	""	"SEPN1(NM_020451.2):c.1745G>A (p.(Arg582Gln))"	"VKGL data sharing initiative Nederland"	"CLASSIFICATION record"	""	""	""	""	""	""	""	"likely benign"	""
"0000869088"	"1"	"90"	"1"	"26136298"	"26136301"	"del"	"0"	"00006"	"SEPN1_000065"	"g.26136298_26136301del"	""	"{PMID:Schuermans 2022:35606766}"	""	""	"ACMG PVS1, PM2, PP5, PP3, PP4"	"Germline"	""	""	"0"	""	""	"g.25809807_25809810del"	""	"pathogenic (recessive)"	"ACMG"
"0000869104"	"2"	"90"	"1"	"26139235"	"26139235"	"subst"	"1.63199E-5"	"00006"	"SEPN1_000182"	"g.26139235G>A"	""	"{PMID:Schuermans 2022:35606766}"	""	""	"ACMG PM2, PP2, PP3, PP4, PM3"	"Germline"	""	""	"0"	""	""	"g.25812744G>A"	""	"pathogenic (recessive)"	"ACMG"
"0000883364"	"0"	"30"	"1"	"26135262"	"26135262"	"subst"	"0.000736036"	"02326"	"SEPN1_000183"	"g.26135262G>A"	""	""	""	"SELENON(NM_020451.3):c.729G>A (p.P243=), SEPN1(NM_020451.2):c.729G>A (p.(Pro243=))"	"VKGL data sharing initiative Nederland"	"CLASSIFICATION record"	""	""	""	""	""	""	""	"likely benign"	""
"0000883365"	"0"	"30"	"1"	"26142081"	"26142081"	"subst"	"0.0026642"	"02326"	"SEPN1_000034"	"g.26142081G>A"	""	""	""	"SELENON(NM_020451.3):c.1645G>A (p.V549M), SEPN1(NM_020451.2):c.1645G>A (p.(Val549Met))"	"VKGL data sharing initiative Nederland"	"CLASSIFICATION record"	""	""	""	""	""	""	""	"likely benign"	""
"0000883366"	"0"	"50"	"1"	"26142151"	"26142151"	"subst"	"0.000280226"	"02325"	"SEPN1_000111"	"g.26142151C>A"	""	""	""	"SELENON(NM_020451.3):c.1715C>A (p.T572N)"	"VKGL data sharing initiative Nederland"	"CLASSIFICATION record"	""	""	""	""	""	""	""	"VUS"	""
"0000911038"	"0"	"50"	"1"	"26135245"	"26135245"	"subst"	"4.06567E-6"	"02327"	"SEPN1_000184"	"g.26135245A>C"	""	""	""	""	"VKGL data sharing initiative Nederland"	"CLASSIFICATION record"	""	""	""	""	""	""	""	"VUS"	""
"0000917163"	"11"	"50"	"1"	"26140429"	"26140429"	"subst"	"0"	"00006"	"SEPN1_000185"	"g.26140429T>C"	""	"{PMID:Cavdarli 2023:36575883}"	""	""	""	"Germline"	""	""	"0"	""	""	"g.25813938T>C"	""	"VUS"	""
"0000923145"	"0"	"10"	"1"	"26127020"	"26127020"	"subst"	"0"	"02326"	"SEPN1_000186"	"g.26127020G>A"	""	""	""	"SELENON(NM_020451.3):c.183+116G>A"	"VKGL data sharing initiative Nederland"	"CLASSIFICATION record"	""	""	""	""	""	""	""	"benign"	""
"0000923146"	"0"	"10"	"1"	"26128307"	"26128307"	"subst"	"0"	"02326"	"SEPN1_000187"	"g.26128307C>T"	""	""	""	"SELENON(NM_020451.3):c.302-200C>T"	"VKGL data sharing initiative Nederland"	"CLASSIFICATION record"	""	""	""	""	""	""	""	"benign"	""
"0000923147"	"0"	"10"	"1"	"26128499"	"26128499"	"del"	"0"	"02326"	"SEPN1_000188"	"g.26128499del"	""	""	""	"SELENON(NM_020451.3):c.302-8delT"	"VKGL data sharing initiative Nederland"	"CLASSIFICATION record"	""	""	""	""	""	""	""	"benign"	""
"0000923148"	"0"	"10"	"1"	"26134926"	"26134926"	"subst"	"0"	"02326"	"SEPN1_000189"	"g.26134926C>G"	""	""	""	"SELENON(NM_020451.3):c.538-145C>G"	"VKGL data sharing initiative Nederland"	"CLASSIFICATION record"	""	""	""	""	""	""	""	"benign"	""
"0000923149"	"0"	"10"	"1"	"26135741"	"26135741"	"subst"	"0"	"02326"	"SEPN1_000121"	"g.26135741C>G"	""	""	""	"SELENON(NM_020451.3):c.872+100C>G"	"VKGL data sharing initiative Nederland"	"CLASSIFICATION record"	""	""	""	""	""	""	""	"benign"	""
"0000923150"	"0"	"10"	"1"	"26138136"	"26138136"	"subst"	"0.790175"	"02326"	"SEPN1_000106"	"g.26138136C>A"	""	""	""	"SELENON(NM_020451.3):c.1093-46C>A"	"VKGL data sharing initiative Nederland"	"CLASSIFICATION record"	""	""	""	""	""	""	""	"benign"	""
"0000923151"	"0"	"10"	"1"	"26138451"	"26138451"	"subst"	"0"	"02326"	"SEPN1_000190"	"g.26138451A>G"	""	""	""	"SELENON(NM_020451.3):c.1281+81A>G"	"VKGL data sharing initiative Nederland"	"CLASSIFICATION record"	""	""	""	""	""	""	""	"benign"	""
"0000923152"	"0"	"10"	"1"	"26139090"	"26139097"	"del"	"0"	"02326"	"SEPN1_000191"	"g.26139090_26139097del"	""	""	""	"SELENON(NM_020451.3):c.1282-88_1282-81delACACACAC"	"VKGL data sharing initiative Nederland"	"CLASSIFICATION record"	""	""	""	""	""	""	""	"benign"	""
"0000923153"	"0"	"10"	"1"	"26139096"	"26139097"	"dup"	"0"	"02326"	"SEPN1_000192"	"g.26139096_26139097dup"	""	""	""	"SELENON(NM_020451.3):c.1282-82_1282-81dupAC"	"VKGL data sharing initiative Nederland"	"CLASSIFICATION record"	""	""	""	""	""	""	""	"benign"	""
"0000923154"	"0"	"10"	"1"	"26139137"	"26139137"	"subst"	"0.792735"	"02326"	"SEPN1_000108"	"g.26139137C>T"	""	""	""	"SELENON(NM_020451.3):c.1282-41C>T"	"VKGL data sharing initiative Nederland"	"CLASSIFICATION record"	""	""	""	""	""	""	""	"benign"	""
"0000923155"	"0"	"10"	"1"	"26139392"	"26139392"	"subst"	"0"	"02326"	"SEPN1_000193"	"g.26139392A>G"	""	""	""	"SELENON(NM_020451.3):c.1387+109A>G"	"VKGL data sharing initiative Nederland"	"CLASSIFICATION record"	""	""	""	""	""	""	""	"benign"	""
"0000923156"	"0"	"10"	"1"	"26139444"	"26139444"	"subst"	"0"	"02326"	"SEPN1_000194"	"g.26139444G>A"	""	""	""	"SELENON(NM_020451.3):c.1387+161G>A"	"VKGL data sharing initiative Nederland"	"CLASSIFICATION record"	""	""	""	""	""	""	""	"benign"	""
"0000923157"	"0"	"10"	"1"	"26139879"	"26139879"	"subst"	"0"	"02326"	"SEPN1_000195"	"g.26139879C>G"	""	""	""	"SELENON(NM_020451.3):c.1388-493C>G"	"VKGL data sharing initiative Nederland"	"CLASSIFICATION record"	""	""	""	""	""	""	""	"benign"	""
"0000923158"	"0"	"10"	"1"	"26139919"	"26139919"	"subst"	"0"	"02326"	"SEPN1_000196"	"g.26139919C>T"	""	""	""	"SELENON(NM_020451.3):c.1388-453C>T"	"VKGL data sharing initiative Nederland"	"CLASSIFICATION record"	""	""	""	""	""	""	""	"benign"	""
"0000927491"	"3"	"70"	"1"	"26135596"	"26135598"	"dup"	"0"	"01164"	"SEPN1_000136"	"g.26135596_26135598dup"	""	"PMID: 30932294, 26780752, 30932294"	""	""	"ACMG: PM3, PM4, PS3_SUP, PM2_SUP"	"Germline"	"yes"	""	"0"	""	""	"g.25809105_25809107dup"	""	"likely pathogenic (recessive)"	"ACMG"
"0000936168"	"11"	"50"	"1"	"26140429"	"26140429"	"subst"	"0"	"00006"	"SEPN1_000185"	"g.26140429T>C"	""	"{PMID:Cavdarli 2023:36575883}"	""	""	""	"Germline"	""	""	"0"	""	""	"g.25813938T>C"	""	"VUS"	""
"0000936586"	"3"	"70"	"1"	"26126711"	"26126802"	"del"	"0"	"02404"	"SEPN1_000001"	"g.26126711_26126802del"	""	"{PMID:Lin 2023:38031187}, {DOI:Lin 2023:10.1186/s13073-023-01258-4}"	""	""	""	"Germline"	"?"	""	"0"	""	""	"g.25800220_25800311del"	""	"pathogenic (recessive)"	"ACMG"
"0000946033"	"1"	"90"	"1"	"26136244"	"26136244"	"subst"	"0.000186855"	"00006"	"SEPN1_000011"	"g.26136244G>A"	""	"{PMID:Westra 2019:31127727}"	""	""	""	"Germline"	""	""	"0"	""	""	"g.25809753G>A"	""	"pathogenic (recessive)"	""
"0000946034"	"3"	"90"	"1"	"26135246"	"26135246"	"dup"	"0"	"00006"	"SEPN1_000008"	"g.26135246dup"	""	"{PMID:Westra 2019:31127727}"	""	""	""	"Germline"	""	""	"0"	""	""	"g.25808755dup"	""	"pathogenic (recessive)"	""
"0000946035"	"1"	"90"	"1"	"26135246"	"26135246"	"dup"	"0"	"00006"	"SEPN1_000008"	"g.26135246dup"	""	"{PMID:Westra 2019:31127727}"	""	""	""	"Germline"	""	""	"0"	""	""	"g.25808755dup"	""	"pathogenic (recessive)"	""
"0000946056"	"0"	"90"	"1"	"26136244"	"26136244"	"subst"	"0.000186855"	"00006"	"SEPN1_000011"	"g.26136244G>A"	""	"{PMID:Westra 2019:31127727}"	""	""	"no variant 2nd chromosome after targeted sequencing; no segregation analysis"	"Germline/De novo (untested)"	""	""	"0"	""	""	"g.25809753G>A"	""	"pathogenic (recessive)"	""
"0000946057"	"11"	"50"	"1"	"26138280"	"26138280"	"subst"	"1.48703E-5"	"00006"	"SEPN1_000132"	"g.26138280G>T"	""	"{PMID:Westra 2019:31127727}"	""	""	"inheritance AR, no variant 2nd chromosome after targeted sequencing; present in healthy father"	"Germline"	""	""	"0"	""	""	"g.25811789G>T"	""	"VUS"	""
"0000946174"	"2"	"90"	"1"	"26140612"	"26140626"	"delins"	"0"	"00006"	"SEPN1_000133"	"g.26140612_26140626delinsT"	""	"{PMID:Westra 2019:31127727}"	""	""	""	"Germline"	""	""	"0"	""	""	"g.25814121_25814135delinsT"	""	"pathogenic (recessive)"	""
"0000946175"	"2"	"90"	"1"	"26139228"	"26139230"	"del"	"0"	"00006"	"SEPN1_000063"	"g.26139228_26139230del"	""	"{PMID:Westra 2019:31127727}"	""	""	""	"Germline"	""	""	"0"	""	""	"g.25812737_25812739del"	""	"pathogenic (recessive)"	""
"0000946219"	"1"	"90"	"1"	"26135246"	"26135246"	"dup"	"0"	"00006"	"SEPN1_000008"	"g.26135246dup"	""	"{PMID:Bouman 2023:37807786}"	""	""	""	"Germline"	""	""	"0"	""	""	"g.25808755dup"	""	"pathogenic (recessive)"	"ACMG"
"0000946220"	"3"	"90"	"1"	"26136244"	"26136244"	"subst"	"0.000186855"	"00006"	"SEPN1_000011"	"g.26136244G>A"	""	"{PMID:Bouman 2023:37807786}"	""	""	""	"Germline"	""	""	"0"	""	""	"g.25809753G>A"	""	"pathogenic (recessive)"	"ACMG"
"0000946221"	"3"	"90"	"1"	"26136244"	"26136244"	"subst"	"0.000186855"	"00006"	"SEPN1_000011"	"g.26136244G>A"	""	"{PMID:Bouman 2023:37807786}"	""	""	""	"Germline"	""	""	"0"	""	""	"g.25809753G>A"	""	"pathogenic (recessive)"	"ACMG"
"0000946222"	"1"	"90"	"1"	"26136244"	"26136244"	"subst"	"0.000186855"	"00006"	"SEPN1_000011"	"g.26136244G>A"	""	"{PMID:Bouman 2023:37807786}"	""	""	""	"Germline"	""	""	"0"	""	""	"g.25809753G>A"	""	"pathogenic (recessive)"	"ACMG"
"0000946223"	"3"	"90"	"1"	"26126722"	"26126722"	"subst"	"0"	"00006"	"SEPN1_000002"	"g.26126722A>G"	""	"{PMID:Bouman 2023:37807786}"	""	""	""	"Germline"	""	""	"0"	""	""	"g.25800231A>G"	""	"pathogenic (recessive)"	"ACMG"
"0000946224"	"3"	"90"	"1"	"26136244"	"26136244"	"subst"	"0.000186855"	"00006"	"SEPN1_000011"	"g.26136244G>A"	""	"{PMID:Bouman 2023:37807786}"	""	""	""	"Germline"	""	""	"0"	""	""	"g.25809753G>A"	""	"pathogenic (recessive)"	"ACMG"
"0000946225"	"1"	"90"	"1"	"26135246"	"26135246"	"dup"	"0"	"00006"	"SEPN1_000008"	"g.26135246dup"	""	"{PMID:Bouman 2023:37807786}"	""	""	""	"Germline"	""	""	"0"	""	""	"g.25808755dup"	""	"pathogenic (recessive)"	"ACMG"
"0000946226"	"1"	"90"	"1"	"26136244"	"26136244"	"subst"	"0.000186855"	"00006"	"SEPN1_000011"	"g.26136244G>A"	""	"{PMID:Bouman 2023:37807786}"	""	""	""	"Germline"	""	""	"0"	""	""	"g.25809753G>A"	""	"pathogenic (recessive)"	"ACMG"
"0000946227"	"1"	"90"	"1"	"26135246"	"26135246"	"dup"	"0"	"00006"	"SEPN1_000008"	"g.26135246dup"	""	"{PMID:Bouman 2023:37807786}"	""	""	""	"Germline"	""	""	"0"	""	""	"g.25808755dup"	""	"pathogenic (recessive)"	"ACMG"
"0000946228"	"3"	"90"	"1"	"26136244"	"26136244"	"subst"	"0.000186855"	"00006"	"SEPN1_000011"	"g.26136244G>A"	""	"{PMID:Bouman 2023:37807786}"	""	""	""	"Germline"	""	""	"0"	""	""	"g.25809753G>A"	""	"pathogenic (recessive)"	"ACMG"
"0000946229"	"3"	"90"	"1"	"26136244"	"26136244"	"subst"	"0.000186855"	"00006"	"SEPN1_000011"	"g.26136244G>A"	""	"{PMID:Bouman 2023:37807786}"	""	""	""	"Germline"	""	""	"0"	""	""	"g.25809753G>A"	""	"pathogenic (recessive)"	"ACMG"
"0000946230"	"2"	"90"	"1"	"26139228"	"26139230"	"del"	"0"	"00006"	"SEPN1_000063"	"g.26139228_26139230del"	""	"{PMID:Bouman 2023:37807786}"	""	""	""	"Germline"	""	""	"0"	""	""	"g.25812737_25812739del"	""	"pathogenic (recessive)"	"ACMG"
"0000946231"	"2"	"90"	"1"	"26139228"	"26139230"	"del"	"0"	"00006"	"SEPN1_000063"	"g.26139228_26139230del"	""	"{PMID:Bouman 2023:37807786}"	""	""	""	"Germline"	""	""	"0"	""	""	"g.25812737_25812739del"	""	"pathogenic (recessive)"	"ACMG"
"0000946232"	"2"	"90"	"1"	"26139228"	"26139230"	"del"	"0"	"00006"	"SEPN1_000063"	"g.26139228_26139230del"	""	"{PMID:Bouman 2023:37807786}"	""	""	""	"Germline"	""	""	"0"	""	""	"g.25812737_25812739del"	""	"pathogenic (recessive)"	"ACMG"
"0000946233"	"2"	"70"	"1"	"26127651"	"26127651"	"subst"	"0"	"00006"	"SEPN1_000197"	"g.26127651G>C"	""	"{PMID:Bouman 2023:37807786}"	""	""	""	"Germline"	""	""	"0"	""	""	"g.25801160G>C"	""	"likely pathogenic (recessive)"	"ACMG"
"0000946234"	"2"	"90"	"1"	"26126734"	"26126743"	"dup"	"0"	"00006"	"SEPN1_000003"	"g.26126734_26126743dup"	""	"{PMID:Bouman 2023:37807786}"	""	""	""	"Germline"	""	""	"0"	""	""	"g.25800243_25800252dup"	""	"pathogenic (recessive)"	"ACMG"
"0000947198"	"0"	"30"	"1"	"26131665"	"26131667"	"dup"	"0"	"02326"	"SEPN1_000103"	"g.26131665_26131667dup"	""	""	""	"SELENON(NM_020451.3):c.436_438dupGAG (p.C142_E143=)"	"VKGL data sharing initiative Nederland"	"CLASSIFICATION record"	""	""	""	""	""	""	""	"likely benign"	""
"0000947199"	"0"	"50"	"1"	"26135560"	"26135560"	"subst"	"0"	"02329"	"SEPN1_000198"	"g.26135560T>C"	""	""	""	"SELENON(NM_020451.3):c.791T>C (p.F264S)"	"VKGL data sharing initiative Nederland"	"CLASSIFICATION record"	""	""	""	""	""	""	""	"VUS"	""
"0000947200"	"0"	"50"	"1"	"26142079"	"26142079"	"subst"	"4.06098E-6"	"02329"	"SEPN1_000199"	"g.26142079C>T"	""	""	""	"SELENON(NM_020451.3):c.1643C>T (p.S548F)"	"VKGL data sharing initiative Nederland"	"CLASSIFICATION record"	""	""	""	""	""	""	""	"VUS"	""
"0000947201"	"0"	"30"	"1"	"26142081"	"26142081"	"subst"	"0.0026642"	"01804"	"SEPN1_000034"	"g.26142081G>A"	""	""	""	"SELENON(NM_020451.3):c.1645G>A (p.V549M), SEPN1(NM_020451.2):c.1645G>A (p.(Val549Met))"	"VKGL data sharing initiative Nederland"	"CLASSIFICATION record"	""	""	""	""	""	""	""	"likely benign"	""
"0000960994"	"0"	"50"	"1"	"26135262"	"26135262"	"subst"	"0.000736036"	"01804"	"SEPN1_000183"	"g.26135262G>A"	""	""	""	"SELENON(NM_020451.3):c.729G>A (p.P243=), SEPN1(NM_020451.2):c.729G>A (p.(Pro243=))"	"VKGL data sharing initiative Nederland"	"CLASSIFICATION record"	""	""	""	""	""	""	""	"VUS"	""
"0000973868"	"0"	"50"	"1"	"26135616"	"26135616"	"subst"	"4.0654E-6"	"01804"	"SEPN1_000200"	"g.26135616G>A"	""	""	""	"SELENON(NM_020451.3):c.847G>A (p.(Asp283Asn))"	"VKGL data sharing initiative Nederland"	"CLASSIFICATION record"	""	""	""	""	""	""	""	"VUS"	""
"0000973869"	"0"	"50"	"1"	"26140634"	"26140634"	"subst"	"0"	"01804"	"SEPN1_000201"	"g.26140634G>A"	""	""	""	"SELENON(NM_020451.3):c.1567G>A (p.(Val523Met))"	"VKGL data sharing initiative Nederland"	"CLASSIFICATION record"	""	""	""	""	""	""	""	"VUS"	""
"0000973870"	"0"	"50"	"1"	"26142090"	"26142090"	"subst"	"0.000377674"	"01804"	"SEPN1_000094"	"g.26142090G>A"	""	""	""	"SELENON(NM_020451.3):c.1654G>A (p.(Glu552Lys), p.E552K)"	"VKGL data sharing initiative Nederland"	"CLASSIFICATION record"	""	""	""	""	""	""	""	"VUS"	""
"0000987496"	"0"	"50"	"1"	"26142180"	"26142180"	"subst"	"5.6881E-5"	"03779"	"SEPN1_000202"	"g.26142180C>T"	""	""	""	""	""	"CLASSIFICATION record"	""	"rs373530866"	"0"	""	""	""	""	"VUS"	""
"0000991083"	"0"	"50"	"1"	"26140411"	"26140411"	"subst"	"2.03181E-5"	"01804"	"SEPN1_000142"	"g.26140411C>T"	""	""	""	"SELENON(NM_020451.3):c.1427C>T (p.S476L), SEPN1(NM_020451.2):c.1427C>T (p.(Ser476Leu))"	"VKGL data sharing initiative Nederland"	"CLASSIFICATION record"	""	""	""	""	""	""	""	"VUS"	""
"0000991084"	"0"	"50"	"1"	"26142025"	"26142025"	"subst"	"0.00017502"	"01804"	"SEPN1_000203"	"g.26142025G>A"	""	""	""	"SEPN1(NM_020451.2):c.1603-14G>A (p.(=))"	"VKGL data sharing initiative Nederland"	"CLASSIFICATION record"	""	""	""	""	""	""	""	"VUS"	""
"0001013308"	"0"	"30"	"1"	"26139240"	"26139240"	"subst"	"4.8976E-5"	"01804"	"SEPN1_000204"	"g.26139240C>T"	""	""	""	"SEPN1(NM_020451.2):c.1344C>T (p.(His448=))"	"VKGL data sharing initiative Nederland"	"CLASSIFICATION record"	""	""	""	""	""	""	""	"likely benign"	""
"0001023926"	"0"	"70"	"1"	"26131654"	"26131682"	"del"	"0"	"01164"	"SEPN1_000205"	"g.26131654_26131682del"	""	""	""	""	"ACMG: PVS1, PM2_SUP, PM3_SUP"	"Germline"	"?"	""	"0"	""	""	"g.25805163_25805191del"	""	"pathogenic (recessive)"	"ACMG"
"0001023927"	"0"	"70"	"1"	"26135630"	"26135640"	"del"	"0"	"01164"	"SEPN1_000206"	"g.26135630_26135640del"	""	""	""	""	"ACMG: PVS1, PM2_SUP, PM3_SUP"	"Germline"	"?"	""	"0"	""	""	"g.25809139_25809149del"	""	"pathogenic (recessive)"	"ACMG"
"0001024148"	"0"	"50"	"1"	"26138339"	"26138339"	"subst"	"0"	"01804"	"SEPN1_000140"	"g.26138339G>A"	""	""	""	"SEPN1(NM_020451.2):c.1250G>A (p.(Arg417His))"	"VKGL data sharing initiative Nederland"	"CLASSIFICATION record"	""	""	""	""	""	""	""	"VUS"	""
"0001031925"	"0"	"90"	"1"	"26140381"	"26140381"	"subst"	"4.87849E-5"	"01804"	"SEPN1_000020"	"g.26140381G>A"	""	""	""	"SELENON(NM_020451.3):c.1397G>A (p.(Arg466Gln))"	"VKGL data sharing initiative Nederland"	"CLASSIFICATION record"	""	""	""	""	""	""	""	"pathogenic"	""
"0001031926"	"0"	"70"	"1"	"26140482"	"26140482"	"subst"	"0"	"02327"	"SEPN1_000207"	"g.26140482C>T"	""	""	""	""	"VKGL data sharing initiative Nederland"	"CLASSIFICATION record"	""	""	""	""	""	""	""	"likely pathogenic"	""


## 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 SEPN1
## Count = 604
"{{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}}"
"0000064209"	"00018666"	"10"	"1506"	"0"	"1506"	"0"	"c.1506C>A"	"r.(?)"	"p.(Asn520Lys)"	"12"
"0000064210"	"00018666"	"10"	"872"	"100"	"872"	"100"	"c.872+100C>G"	"r.(?)"	"p.(=)"	"6i"
"0000064211"	"00018666"	"10"	"4238"	"0"	"4238"	"0"	"c.*2465G>A"	"r.(?)"	"p.(=)"	"13"
"0000064212"	"00018666"	"10"	"-42"	"0"	"-42"	"0"	"c.-42T>C"	"r.(?)"	"p.(=)"	"1"
"0000064213"	"00018666"	"50"	"1396"	"0"	"1396"	"0"	"c.1396C>T"	"r.(?)"	"p.(Arg466Trp)"	"11"
"0000064214"	"00018666"	"10"	"1282"	"-41"	"1282"	"-41"	"c.1282-41C>T"	"r.(?)"	"p.(=)"	"9i"
"0000064215"	"00018666"	"10"	"1173"	"0"	"1173"	"0"	"c.1173T>C"	"r.(?)"	"p.(=)"	"9"
"0000064216"	"00018666"	"10"	"1093"	"-46"	"1093"	"-46"	"c.1093-46C>A"	"r.(?)"	"p.(=)"	"8i"
"0000064217"	"00018666"	"10"	"425"	"0"	"425"	"0"	"c.425G>A"	"r.(?)"	"p.(=)"	"4"
"0000084570"	"00018666"	"90"	"1397"	"0"	"1397"	"0"	"c.1397G>A"	"r.(?)"	"p.(Arg466Gln)"	"11"
"0000169790"	"00018666"	"11"	"0"	"0"	"0"	"0"	"c.="	"r.="	"p.="	"1_13"
"0000169791"	"00018666"	"11"	"0"	"0"	"0"	"0"	"c.="	"r.="	"p.="	"1_13"
"0000169792"	"00018666"	"90"	"2"	"0"	"2"	"0"	"c.2dup"	"r.2dup"	"p.0?"	"1"
"0000169793"	"00018666"	"90"	"2"	"0"	"2"	"0"	"c.2dup"	"r.2dup"	"p.0?"	"1"
"0000169794"	"00018666"	"90"	"13"	"0"	"22"	"0"	"c.13_22dup"	"r.(?)"	"p.(Gln8Profs*78)"	"1"
"0000169796"	"00018666"	"90"	"13"	"0"	"22"	"0"	"c.13_22dup"	"r.(?)"	"p.(Gln8Profs*78)"	"1"
"0000169798"	"00018666"	"90"	"817"	"0"	"817"	"0"	"c.817G>A"	"r.(?)"	"p.(Gly273Arg)"	"6"
"0000169800"	"00018666"	"90"	"817"	"0"	"817"	"0"	"c.817G>A"	"r.(?)"	"p.(Gly273Arg)"	"6"
"0000169802"	"00018666"	"90"	"817"	"0"	"817"	"0"	"c.817G>A"	"r.(?)"	"p.(Gly273Arg)"	"6"
"0000169804"	"00018666"	"90"	"817"	"0"	"817"	"0"	"c.817G>A"	"r.(?)"	"p.(Gly273Arg)"	"6"
"0000169805"	"00018666"	"90"	"817"	"0"	"817"	"0"	"c.817G>A"	"r.(?)"	"p.(Gly273Arg)"	"6"
"0000169806"	"00018666"	"90"	"1386"	"0"	"1386"	"0"	"c.1386A>G"	"r.(?)"	"p.(Scy462Gly)"	"10"
"0000169807"	"00018666"	"90"	"1386"	"0"	"1386"	"0"	"c.1386A>G"	"r.(?)"	"p.(Scy462Gly)"	"10"
"0000169808"	"00018666"	"90"	"817"	"0"	"817"	"0"	"c.817G>A"	"r.(?)"	"p.(Gly273Arg)"	"6"
"0000169810"	"00018666"	"90"	"817"	"0"	"817"	"0"	"c.817G>A"	"r.(?)"	"p.(Gly273Arg)"	"6"
"0000169812"	"00018666"	"90"	"713"	"0"	"713"	"0"	"c.713dup"	"r.(?)"	"p.(Asn238Lysfs*62)"	"5"
"0000169813"	"00018666"	"90"	"1315"	"0"	"1315"	"0"	"c.1315C>T"	"r.(?)"	"p.(Arg439*)"	"10"
"0000169814"	"00018666"	"90"	"878"	"0"	"878"	"0"	"c.878A>G"	"r.(?)"	"p.(His293Arg)"	"7"
"0000169815"	"00018666"	"90"	"1397"	"0"	"1397"	"0"	"c.1397G>A"	"r.(?)"	"p.(Arg466Gln)"	"11"
"0000169816"	"00018666"	"90"	"1385"	"0"	"1385"	"0"	"c.1385G>A"	"r.(?)"	"p.(Scy462*)"	"10"
"0000169818"	"00018666"	"90"	"1446"	"0"	"1446"	"0"	"c.1446del"	"r.(?)"	"p.(Asn483Thrfs*11)"	"11"
"0000169820"	"00018666"	"90"	"943"	"0"	"943"	"0"	"c.943G>A"	"r.943c>a"	"p.Gly315Ser"	"7"
"0000169821"	"00018666"	"90"	"943"	"0"	"943"	"0"	"c.943G>A"	"r.943c>a"	"p.Gly315Ser"	"7"
"0000169822"	"00018666"	"90"	"943"	"0"	"943"	"0"	"c.943G>A"	"r.943c>a"	"p.Gly315Ser"	"7"
"0000169823"	"00018666"	"90"	"943"	"0"	"943"	"0"	"c.943G>A"	"r.943c>a"	"p.Gly315Ser"	"7"
"0000169824"	"00018666"	"90"	"943"	"0"	"943"	"0"	"c.943G>A"	"r.943c>a"	"p.Gly315Ser"	"7"
"0000169825"	"00018666"	"90"	"943"	"0"	"943"	"0"	"c.943G>A"	"r.943c>a"	"p.Gly315Ser"	"7"
"0000169826"	"00018666"	"90"	"943"	"0"	"943"	"0"	"c.943G>A"	"r.943c>a"	"p.Gly315Ser"	"7"
"0000169827"	"00018666"	"90"	"943"	"0"	"943"	"0"	"c.943G>A"	"r.943c>a"	"p.Gly315Ser"	"7"
"0000169828"	"00018666"	"90"	"943"	"0"	"943"	"0"	"c.943G>A"	"r.943c>a"	"p.Gly315Ser"	"7"
"0000169829"	"00018666"	"90"	"943"	"0"	"943"	"0"	"c.943G>A"	"r.943c>a"	"p.Gly315Ser"	"7"
"0000169830"	"00018666"	"90"	"-11"	"0"	"81"	"0"	"c.-11_81del"	"r.(?)"	"p.0?"	"1"
"0000169831"	"00018666"	"90"	"1"	"0"	"1"	"0"	"c.1A>G"	"r.(?)"	"p.0?"	"1"
"0000169832"	"00018666"	"90"	"878"	"0"	"878"	"0"	"c.878A>G"	"r.(?)"	"p.(His293Arg)"	"7"
"0000169833"	"00018666"	"90"	"1603"	"-2"	"1603"	"-2"	"c.1603-2A>G"	"r.spl?"	"p.?"	"12i"
"0000169834"	"00018666"	"90"	"23"	"0"	"32"	"0"	"c.23_32dup"	"r.(?)"	"p.(Pro12Thrfs*75)"	"1"
"0000169836"	"00018666"	"90"	"2880"	"0"	"2880"	"0"	"c.*1107T>C"	"r.*1107u>c"	"p.="	"13"
"0000169837"	"00018666"	"90"	"2880"	"0"	"2880"	"0"	"c.*1107T>C"	"r.*1107u>c"	"p.="	"13"
"0000169838"	"00018666"	"90"	"60"	"0"	"79"	"0"	"c.60_79dup"	"r.60_79dup"	"p.Arg27Leufs*62"	"1"
"0000169839"	"00018666"	"90"	"60"	"0"	"79"	"0"	"c.60_79dup"	"r.60_79dup"	"p.Arg27Leufs*62"	"1"
"0000169840"	"00018666"	"90"	"13"	"0"	"22"	"0"	"c.13_22dup"	"r.(?)"	"p.(Gln8Profs*78)"	"1"
"0000169842"	"00018666"	"90"	"1"	"0"	"1"	"0"	"c.1A>G"	"r.(?)"	"p.0?"	"1"
"0000169844"	"00018666"	"90"	"1"	"0"	"1"	"0"	"c.1A>G"	"r.(?)"	"p.0?"	"1"
"0000169846"	"00018666"	"90"	"1"	"0"	"1"	"0"	"c.1A>G"	"r.(?)"	"p.0?"	"1"
"0000169848"	"00018666"	"90"	"1"	"0"	"1"	"0"	"c.1A>G"	"r.(?)"	"p.0?"	"1"
"0000169850"	"00018666"	"90"	"943"	"0"	"943"	"0"	"c.943G>A"	"r.(?)"	"p.(Gly315Ser)"	"7"
"0000169852"	"00018666"	"90"	"713"	"0"	"713"	"0"	"c.713dup"	"r.(?)"	"p.(Asn238Lysfs*62)"	"5"
"0000169854"	"00018666"	"90"	"-11"	"0"	"81"	"0"	"c.-11_81del"	"r.(?)"	"p.0?"	"1"
"0000169856"	"00018666"	"90"	"713"	"0"	"713"	"0"	"c.713dup"	"r.(?)"	"p.(Asn238Lysfs*62)"	"5"
"0000169857"	"00018666"	"90"	"1397"	"0"	"1397"	"0"	"c.1397G>A"	"r.(?)"	"p.(Arg466Gln)"	"11"
"0000169858"	"00018666"	"90"	"943"	"0"	"943"	"0"	"c.943G>A"	"r.(?)"	"p.(Gly315Ser)"	"7"
"0000169860"	"00018666"	"90"	"943"	"0"	"943"	"0"	"c.943G>A"	"r.(?)"	"p.(Gly315Ser)"	"7"
"0000169862"	"00018666"	"90"	"943"	"0"	"943"	"0"	"c.943G>A"	"r.(?)"	"p.(Gly315Ser)"	"7"
"0000169864"	"00018666"	"90"	"943"	"0"	"943"	"0"	"c.943G>A"	"r.(?)"	"p.(Gly315Ser)"	"7"
"0000169866"	"00018666"	"90"	"943"	"0"	"943"	"0"	"c.943G>A"	"r.(?)"	"p.(Gly315Ser)"	"7"
"0000169867"	"00018666"	"90"	"1397"	"0"	"1397"	"0"	"c.1397G>A"	"r.(?)"	"p.(Arg466Gln)"	"11"
"0000169868"	"00018666"	"90"	"878"	"0"	"878"	"0"	"c.878A>G"	"r.(?)"	"p.(His293Arg)"	"7"
"0000169869"	"00018666"	"90"	"1019"	"0"	"1019"	"0"	"c.1019A>T"	"r.(?)"	"p.(Asn340Ile)"	"8"
"0000169870"	"00018666"	"90"	"878"	"0"	"878"	"0"	"c.878A>G"	"r.(?)"	"p.(His293Arg)"	"7"
"0000169871"	"00018666"	"90"	"1019"	"0"	"1019"	"0"	"c.1019A>T"	"r.(?)"	"p.(Asn340Ile)"	"8"
"0000169872"	"00018666"	"90"	"1384"	"0"	"1384"	"0"	"c.1384T>G"	"r.(?)"	"p.(Scy462Gly)"	"10"
"0000169874"	"00018666"	"90"	"1384"	"0"	"1384"	"0"	"c.1384T>G"	"r.(?)"	"p.(Scy462Gly)"	"10"
"0000169876"	"00018666"	"90"	"1358"	"0"	"1358"	"0"	"c.1358G>C"	"r.(?)"	"p.(Trp453Ser)"	"10"
"0000169877"	"00018666"	"90"	"1397"	"0"	"1397"	"0"	"c.1397G>A"	"r.(?)"	"p.(Arg466Gln)"	"11"
"0000169878"	"00018666"	"90"	"943"	"0"	"943"	"0"	"c.943G>A"	"r.(?)"	"p.(Gly315Ser)"	"7"
"0000169879"	"00018666"	"90"	"943"	"0"	"943"	"0"	"c.943G>A"	"r.(?)"	"p.(Gly315Ser)"	"7"
"0000169880"	"00018666"	"90"	"2"	"0"	"2"	"0"	"c.2dup"	"r.(?)"	"p.0?"	"1"
"0000169881"	"00018666"	"90"	"60"	"0"	"79"	"0"	"c.60_79dup"	"r.?"	"p.Arg27Leufs*62"	"1"
"0000169882"	"00018666"	"10"	"425"	"0"	"425"	"0"	"c.425G>A"	"r.(?)"	"p.(Cys142Tyr)"	"4"
"0000169883"	"00018666"	"10"	"981"	"0"	"981"	"0"	"c.981C>T"	"r.(?)"	"p.(=)"	"7"
"0000169884"	"00018666"	"10"	"1173"	"0"	"1173"	"0"	"c.1173T>C"	"r.(?)"	"p.(=)"	"9"
"0000169885"	"00018666"	"10"	"1506"	"0"	"1506"	"0"	"c.1506C>A"	"r.(?)"	"p.(Asn520Lys)"	"12"
"0000169886"	"00018666"	"10"	"583"	"0"	"583"	"0"	"c.583G>A"	"r.(?)"	"p.(Ala195Thr)"	"5"
"0000169887"	"00018666"	"10"	"1506"	"0"	"1506"	"0"	"c.1506C>A"	"r.(?)"	"p.(Asn520Lys)"	"12"
"0000169888"	"00018666"	"10"	"425"	"0"	"425"	"0"	"c.425G>A"	"r.(?)"	"p.(Cys142Tyr)"	"4"
"0000169889"	"00018666"	"30"	"1596"	"0"	"1596"	"0"	"c.1596C>T"	"r.(?)"	"p.(=)"	"12"
"0000169890"	"00018666"	"90"	"943"	"0"	"943"	"0"	"c.943G>A"	"r.(?)"	"p.(Gly315Ser)"	"7"
"0000169891"	"00018666"	"70"	"1405"	"0"	"1405"	"0"	"c.1405C>T"	"r.(?)"	"p.(Arg469Trp)"	"11"
"0000169892"	"00018666"	"50"	"253"	"0"	"253"	"0"	"c.253A>G"	"r.(?)"	"p.(Met85Val)"	"2"
"0000169893"	"00018666"	"50"	"415"	"0"	"415"	"0"	"c.415G>A"	"r.(?)"	"p.(Ala139Thr)"	"4"
"0000169894"	"00018666"	"30"	"465"	"0"	"465"	"0"	"c.465G>A"	"r.(?)"	"p.(=)"	"4"
"0000169895"	"00018666"	"50"	"1021"	"0"	"1021"	"0"	"c.1021G>A"	"r.(?)"	"p.(Val341Met)"	"8"
"0000169896"	"00018666"	"50"	"1282"	"-3"	"1282"	"-3"	"c.1282-3C>T"	"r.(=)"	"p.(=)"	"9i"
"0000169897"	"00018666"	"30"	"1501"	"-31"	"1501"	"-31"	"c.1501-31C>T"	"r.(=)"	"p.(=)"	"11i"
"0000169898"	"00018666"	"50"	"1092"	"6"	"1092"	"6"	"c.1092+6C>G"	"r.(spl?)"	"p.(?)"	"8i"
"0000169899"	"00018666"	"30"	"981"	"0"	"981"	"0"	"c.981C>T"	"r.(?)"	"p.(Arg327Arg)"	"7"
"0000169900"	"00018666"	"50"	"1645"	"0"	"1645"	"0"	"c.1645G>A"	"r.(?)"	"p.(Val549Met)"	"13"
"0000169901"	"00018666"	"50"	"1817"	"0"	"1817"	"0"	"c.*44G>T"	"r.(?)"	"p.(=)"	"13"
"0000169902"	"00018666"	"50"	"42"	"0"	"42"	"0"	"c.42C>T"	"r.(?)"	"p.(=)"	"1"
"0000169903"	"00018666"	"50"	"-14"	"0"	"-5"	"0"	"c.-14_-5dup"	"r.(?)"	"p.(=)"	"1"
"0000169904"	"00018666"	"90"	"13"	"0"	"22"	"0"	"c.13_22dup"	"r.(?)"	"p.(Gln8Profs*78)"	"1"
"0000169905"	"00018666"	"90"	"943"	"0"	"943"	"0"	"c.943G>A"	"r.(?)"	"p.(Gly315Ser)"	"7"
"0000169906"	"00018666"	"70"	"872"	"0"	"872"	"0"	"c.872G>A"	"r.(spl?)"	"p.(Arg291Gln)"	"6"
"0000169907"	"00018666"	"90"	"1397"	"0"	"1397"	"0"	"c.1397G>A"	"r.(?)"	"p.(Arg466Gln)"	"11"
"0000169908"	"00018666"	"70"	"1282"	"-2"	"1282"	"-2"	"c.1282-2A>C"	"r.spl?"	"p.?"	"9i"
"0000169909"	"00018666"	"70"	"1282"	"-2"	"1282"	"-2"	"c.1282-2A>C"	"r.spl?"	"p.?"	"9i"
"0000169910"	"00018666"	"70"	"872"	"0"	"872"	"0"	"c.872G>A"	"r.(spl?)"	"p.(Arg291Gln)"	"6"
"0000169911"	"00018666"	"70"	"872"	"0"	"872"	"0"	"c.872G>A"	"r.(spl?)"	"p.(Arg291Gln)"	"6"
"0000169912"	"00018666"	"90"	"943"	"0"	"943"	"0"	"c.943G>A"	"r.(?)"	"p.(Gly315Ser)"	"7"
"0000169913"	"00018666"	"90"	"1315"	"0"	"1315"	"0"	"c.1315C>T"	"r.(?)"	"p.(Arg439*)"	"10"
"0000169914"	"00018666"	"90"	"1"	"0"	"1"	"0"	"c.1A>G"	"r.(?)"	"p.0?"	"1"
"0000169915"	"00018666"	"70"	"1405"	"0"	"1405"	"0"	"c.1405C>T"	"r.(?)"	"p.(Arg469Trp)"	"11"
"0000169916"	"00018666"	"30"	"1707"	"0"	"1707"	"0"	"c.1707C>G"	"r.(?)"	"p.(=)"	"13"
"0000169917"	"00018666"	"70"	"802"	"0"	"802"	"0"	"c.802C>T"	"r.(?)"	"p.(Arg268Cys)"	"6"
"0000169918"	"00018666"	"70"	"1397"	"0"	"1397"	"0"	"c.1397G>A"	"r.(?)"	"p.(Arg466Gln)"	"11"
"0000169919"	"00018666"	"50"	"1092"	"6"	"1092"	"6"	"c.1092+6C>G"	"r.(spl?)"	"p.(=)"	"8i"
"0000169920"	"00018666"	"30"	"409"	"0"	"409"	"0"	"c.409A>G"	"r.(?)"	"p.(Thr137Ala)"	"4"
"0000169921"	"00018666"	"90"	"13"	"0"	"22"	"0"	"c.13_22dup"	"r.(?)"	"p.(Gln8Profs*78)"	"1"
"0000169922"	"00018666"	"90"	"13"	"0"	"22"	"0"	"c.13_22dup"	"r.(?)"	"p.(Gln8Profs*78)"	"1"
"0000169923"	"00018666"	"30"	"1623"	"0"	"1623"	"0"	"c.1623C>T"	"r.(?)"	"p.(=)"	"13"
"0000169924"	"00018666"	"90"	"1"	"0"	"1"	"0"	"c.1A>G"	"r.(?)"	"p.0?"	"1"
"0000169925"	"00018666"	"90"	"943"	"0"	"943"	"0"	"c.943G>A"	"r.(?)"	"p.(Gly315Ser)"	"7"
"0000169926"	"00018666"	"90"	"713"	"0"	"713"	"0"	"c.713dup"	"r.(?)"	"p.(Asn238Lysfs*63)"	"5"
"0000169927"	"00018666"	"90"	"943"	"0"	"943"	"0"	"c.943G>A"	"r.(?)"	"p.(Gly315Ser)"	"7"
"0000169928"	"00018666"	"90"	"713"	"0"	"713"	"0"	"c.713dup"	"r.(?)"	"p.(Asn238Lysfs*63)"	"5"
"0000169929"	"00018666"	"90"	"713"	"0"	"713"	"0"	"c.713dup"	"r.(?)"	"p.(Asn238Lysfs*63)"	"5"
"0000169930"	"00018666"	"10"	"1405"	"0"	"1405"	"0"	"c.1405C>T"	"r.(?)"	"p.(Arg469Trp)"	"11"
"0000169931"	"00018666"	"10"	"1405"	"0"	"1405"	"0"	"c.1405C>T"	"r.(?)"	"p.(Arg469Trp)"	"11"
"0000169932"	"00018666"	"10"	"1406"	"0"	"1406"	"0"	"c.1406G>A"	"r.(?)"	"p.(Arg469Gln)"	"11"
"0000169933"	"00018666"	"10"	"1406"	"0"	"1406"	"0"	"c.1406G>A"	"r.(?)"	"p.(Arg469Gln)"	"11"
"0000169934"	"00018666"	"10"	"1406"	"0"	"1406"	"0"	"c.1406G>A"	"r.(?)"	"p.(Arg469Gln)"	"11"
"0000169935"	"00018666"	"10"	"1406"	"0"	"1406"	"0"	"c.1406G>A"	"r.(?)"	"p.(Arg469Gln)"	"11"
"0000169936"	"00018666"	"10"	"-22"	"0"	"72"	"0"	"c.-22_72del"	"r.(?)"	"p.0?"	"1"
"0000169937"	"00018666"	"10"	"1388"	"0"	"1388"	"0"	"c.1388G>T"	"r.(spl?)"	"p.(Glu463Val)"	"11"
"0000169938"	"00018666"	"10"	"1397"	"0"	"1397"	"0"	"c.1397G>A"	"r.(?)"	"p.(Arg466Gln)"	"11"
"0000169939"	"00018666"	"10"	"713"	"0"	"713"	"0"	"c.713dup"	"r.(?)"	"p.(Asn238Lysfs*63)"	"5"
"0000169940"	"00018666"	"10"	"1397"	"0"	"1397"	"0"	"c.1397G>A"	"r.(?)"	"p.(Arg466Gln)"	"11"
"0000169941"	"00018666"	"10"	"943"	"0"	"943"	"0"	"c.943G>A"	"r.(?)"	"p.(Gly315Ser)"	"7"
"0000169942"	"00018666"	"10"	"1397"	"0"	"1397"	"0"	"c.1397G>A"	"r.(?)"	"p.(Arg466Gln)"	"11"
"0000169943"	"00018666"	"10"	"1"	"0"	"1"	"0"	"c.1A>G"	"r.(?)"	"p.0?"	"1"
"0000169944"	"00018666"	"10"	"1"	"0"	"1"	"0"	"c.1A>G"	"r.(?)"	"p.0?"	"1"
"0000169945"	"00018666"	"90"	"713"	"0"	"713"	"0"	"c.713dup"	"r.(?)"	"p.(Asn238Lysfs*62)"	"5"
"0000169946"	"00018666"	"90"	"713"	"0"	"713"	"0"	"c.713dup"	"r.(?)"	"p.(Asn238Lysfs*62)"	"5"
"0000169947"	"00018666"	"90"	"1315"	"0"	"1315"	"0"	"c.1315C>T"	"r.(?)"	"p.(Arg439*)"	"10"
"0000169948"	"00018666"	"90"	"943"	"0"	"943"	"0"	"c.943G>A"	"r.(?)"	"p.Gly315Ser"	"7"
"0000169949"	"00018666"	"90"	"1315"	"0"	"1315"	"0"	"c.1315C>T"	"r.(?)"	"p.(Arg439*)"	"10"
"0000169950"	"00018666"	"90"	"943"	"0"	"943"	"0"	"c.943G>A"	"r.(?)"	"p.Gly315Ser"	"7"
"0000169951"	"00018666"	"90"	"13"	"0"	"22"	"0"	"c.13_22dup"	"r.(?)"	"p.(Gln8Profs*78)"	"1"
"0000169953"	"00018666"	"90"	"713"	"0"	"713"	"0"	"c.713dup"	"r.(?)"	"p.(Asn238Lysfs*62)"	"5"
"0000169954"	"00018666"	"90"	"943"	"0"	"943"	"0"	"c.943G>A"	"r.(?)"	"p.Gly315Ser"	"7"
"0000169955"	"00018666"	"90"	"713"	"0"	"713"	"0"	"c.713dup"	"r.(?)"	"p.(Asn238Lysfs*62)"	"5"
"0000169956"	"00018666"	"90"	"1397"	"0"	"1397"	"0"	"c.1397G>A"	"r.(?)"	"p.(Arg466Gln)"	"11"
"0000169957"	"00018666"	"90"	"863"	"0"	"864"	"0"	"c.863_864del"	"r.(?)"	"p.(Val288Aspfs*12)"	"6"
"0000169958"	"00018666"	"90"	"1469"	"0"	"1469"	"0"	"c.1469G>T"	"r.(?)"	"p.(Trp490Leu)"	"11"
"0000169959"	"00018666"	"90"	"817"	"0"	"817"	"0"	"c.817G>A"	"r.(?)"	"p.(Gly273Arg)"	"6"
"0000169961"	"00018666"	"90"	"817"	"0"	"817"	"0"	"c.817G>A"	"r.(?)"	"p.(Gly273Arg)"	"6"
"0000169963"	"00018666"	"90"	"817"	"0"	"817"	"0"	"c.817G>A"	"r.(?)"	"p.(Gly273Arg)"	"6"
"0000169965"	"00018666"	"90"	"943"	"0"	"943"	"0"	"c.943G>A"	"r.(?)"	"p.(Gly315Ser)"	"7"
"0000169966"	"00018666"	"90"	"713"	"0"	"713"	"0"	"c.713dup"	"r.(?)"	"p.(Asn238Lysfs*62)"	"5"
"0000169967"	"00018666"	"90"	"713"	"0"	"713"	"0"	"c.713dup"	"r.(?)"	"p.(Asn238Lysfs*62)"	"5"
"0000169968"	"00018666"	"90"	"713"	"0"	"713"	"0"	"c.713dup"	"r.(?)"	"p.(Asn238Lysfs*62)"	"5"
"0000169969"	"00018666"	"70"	"1"	"0"	"1"	"0"	"c.1A>G"	"r.(?)"	"p.0?"	"1"
"0000169970"	"00018666"	"70"	"481"	"0"	"481"	"0"	"c.481C>T"	"r.(?)"	"p.(Arg161*)"	"4"
"0000169971"	"00018666"	"70"	"249"	"0"	"250"	"0"	"c.249_250dup"	"r.(?)"	"p.(Asp84Glyfs*17)"	"2"
"0000169972"	"00018666"	"70"	"249"	"0"	"250"	"0"	"c.249_250dup"	"r.(?)"	"p.(Asp84Glyfs*17)"	"2"
"0000169973"	"00018666"	"70"	"1469"	"0"	"1469"	"0"	"c.1469G>A"	"r.(?)"	"p.(Trp490*)"	"11"
"0000169974"	"00018666"	"90"	"943"	"0"	"943"	"0"	"c.943G>A"	"r.(?)"	"p.(Gly315Ser)"	"7"
"0000169975"	"00018666"	"50"	"1578"	"0"	"1580"	"0"	"c.1578_1580del"	"r.(?)"	"p.(Met526del)"	"12"
"0000169976"	"00018666"	"90"	"44"	"0"	"72"	"0"	"c.44_72dup"	"r.(?)"	"p.(Arg25Alafs*51)"	"1"
"0000169977"	"00018666"	"90"	"713"	"0"	"713"	"0"	"c.713dup"	"r.(?)"	"p.(Asn238Lysfs*63)"	"5"
"0000169978"	"00018666"	"70"	"9"	"0"	"33"	"0"	"c.9_33del"	"r.(?)"	"p.(Ala4Profs*54)"	"1"
"0000169979"	"00018666"	"70"	"1602"	"1"	"1602"	"1"	"c.1602+1G>A"	"r.spl?"	"p.(del?)"	"12i"
"0000169980"	"00018666"	"90"	"1"	"0"	"1"	"0"	"c.1A>G"	"r.(?)"	"p.0?"	"1"
"0000169981"	"00018666"	"70"	"44"	"0"	"72"	"0"	"c.44_72dup"	"r.(?)"	"p.(Arg25Alafs*51)"	"1"
"0000169982"	"00018666"	"50"	"1076"	"0"	"1076"	"0"	"c.1076T>C"	"r.(?)"	"p.(Ile359Thr)"	"8"
"0000169983"	"00018666"	"90"	"1"	"0"	"1"	"0"	"c.1A>G"	"r.(?)"	"p.(0?)"	"1"
"0000169984"	"00018666"	"90"	"988"	"0"	"988"	"0"	"c.988del"	"r.(?)"	"p.(Arg330Glyfs*10)"	"7"
"0000169985"	"00018666"	"50"	"1574"	"0"	"1574"	"0"	"c.1574T>G"	"r.(?)"	"p.(Met525Arg)"	"12"
"0000169986"	"00018666"	"50"	"1574"	"0"	"1574"	"0"	"c.1574T>G"	"r.(?)"	"p.(Met525Arg)"	"12"
"0000169987"	"00018666"	"50"	"1332"	"0"	"1334"	"0"	"c.1332_1334del"	"r.(?)"	"p.(Asn444del)"	"10"
"0000169988"	"00018666"	"90"	"943"	"0"	"943"	"0"	"c.943G>A"	"r.(?)"	"(.(Gly315Ser)"	"7"
"0000169989"	"00018666"	"90"	"1"	"0"	"1"	"0"	"c.1A>G"	"r.(?)"	"p.(Met1Val)"	"1"
"0000169990"	"00018666"	"70"	"1076"	"0"	"1076"	"0"	"c.1076T>C"	"r.(?)"	"p.(Ile359Thr)"	"8"
"0000169991"	"00018666"	"90"	"714"	"0"	"715"	"0"	"c.714_715insA"	"r.(?)"	"p.(Arg239Thrfs*62)"	"5"
"0000169992"	"00018666"	"90"	"997"	"0"	"1000"	"0"	"c.997_1000del"	"r.(?)"	"p.(Val333Profs*6)"	"7"
"0000169993"	"00018666"	"90"	"714"	"0"	"715"	"0"	"c.714_715insA"	"r.(?)"	"p.(Arg239Thrfs*62)"	"5"
"0000169994"	"00018666"	"90"	"997"	"0"	"1000"	"0"	"c.997_1000del"	"r.(?)"	"p.(Val333Profs*6)"	"7"
"0000169995"	"00018666"	"70"	"1469"	"0"	"1469"	"0"	"c.1469G>T"	"r.(?)"	"p.(Trp490Leu)"	"11"
"0000169996"	"00018666"	"70"	"1469"	"0"	"1469"	"0"	"c.1469G>T"	"r.(?)"	"p.(Trp490Leu)"	"11"
"0000169997"	"00018666"	"70"	"1397"	"0"	"1397"	"0"	"c.1397G>A"	"r.(?)"	"p.(Arg466Gln)"	"11"
"0000169998"	"00018666"	"70"	"1397"	"0"	"1397"	"0"	"c.1397G>A"	"r.(?)"	"p.(Arg466Gln)"	"11"
"0000169999"	"00018666"	"70"	"943"	"0"	"943"	"0"	"c.943G>A"	"r.(?)"	"p.(Gly315Ser)"	"7"
"0000170000"	"00018666"	"70"	"1332"	"0"	"1334"	"0"	"c.1332_1334del"	"r.(?)"	"p.(Asn444del)"	"10"
"0000170001"	"00018666"	"90"	"402"	"0"	"403"	"2"	"c.402_403+2del"	"r.spl?"	"p.(del?)"	"3_3i"
"0000170002"	"00018666"	"90"	"402"	"0"	"403"	"2"	"c.402_403+2del"	"r.spl?"	"p.(del?)"	"3_3i"
"0000170003"	"00018666"	"90"	"869"	"0"	"870"	"0"	"c.869_870del"	"r.(?)"	"p.(Phe290Serfs*10)"	"6"
"0000170004"	"00018666"	"70"	"1405"	"0"	"1405"	"0"	"c.1405C>T"	"r.(?)"	"p.(Arg469Trp)"	"11"
"0000170005"	"00018666"	"90"	"869"	"0"	"870"	"0"	"c.869_870del"	"r.(?)"	"p.(Phe290Serfs*10)"	"6"
"0000170006"	"00018666"	"70"	"1405"	"0"	"1405"	"0"	"c.1405C>T"	"r.(?)"	"p.(Arg469Trp)"	"11"
"0000170007"	"00018666"	"71"	"583"	"0"	"583"	"0"	"c.583G>A"	"r.(?)"	"p.(Ala195Thr)"	"5"
"0000170008"	"00018666"	"71"	"583"	"0"	"583"	"0"	"c.583G>A"	"r.(?)"	"p.(Ala195Thr)"	"5"
"0000170009"	"00018666"	"71"	"583"	"0"	"583"	"0"	"c.583G>A"	"r.(?)"	"p.(Ala195Thr)"	"5"
"0000170010"	"00018666"	"71"	"583"	"0"	"583"	"0"	"c.583G>A"	"r.(?)"	"p.(Ala195Thr)"	"5"
"0000170011"	"00018666"	"50"	"538"	"-48"	"538"	"-48"	"c.538-48del"	"r.(?)"	"p.(=)"	"4i"
"0000170012"	"00018666"	"50"	"538"	"-48"	"538"	"-48"	"c.538-48del"	"r.(?)"	"p.(=)"	"4i"
"0000170013"	"00018666"	"70"	"872"	"0"	"872"	"0"	"c.872G>A"	"r.(?)"	"p.(Arg291Gln)"	"6"
"0000170014"	"00018666"	"70"	"872"	"0"	"872"	"0"	"c.872G>A"	"r.(?)"	"p.(Arg291Gln)"	"6"
"0000170015"	"00018666"	"70"	"872"	"0"	"872"	"0"	"c.872G>A"	"r.(?)"	"p.(Arg291Gln)"	"6"
"0000170016"	"00018666"	"70"	"872"	"0"	"872"	"0"	"c.872G>A"	"r.(?)"	"p.(Arg291Gln)"	"6"
"0000170017"	"00018666"	"70"	"1397"	"0"	"1397"	"0"	"c.1397G>A"	"r.(?)"	"p.(Arg466Gln)"	"11"
"0000170018"	"00018666"	"70"	"1397"	"0"	"1397"	"0"	"c.1397G>A"	"r.(?)"	"p.(Arg466Gln)"	"11"
"0000170019"	"00018666"	"90"	"13"	"0"	"22"	"0"	"c.13_22dup"	"r.(?)"	"p.(Gln8Profs*78)"	"1"
"0000170020"	"00018666"	"90"	"13"	"0"	"22"	"0"	"c.13_22dup"	"r.(?)"	"p.(Gln8Profs*78)"	"1"
"0000170021"	"00018666"	"90"	"13"	"0"	"22"	"0"	"c.13_22dup"	"r.(?)"	"p.(Gln8Profs*78)"	"1"
"0000170022"	"00018666"	"90"	"13"	"0"	"22"	"0"	"c.13_22dup"	"r.(?)"	"p.(Gln8Profs*78)"	"1"
"0000170023"	"00018666"	"90"	"13"	"0"	"22"	"0"	"c.13_22dup"	"r.(?)"	"p.(Gln8Profs*78)"	"1"
"0000170024"	"00018666"	"90"	"13"	"0"	"22"	"0"	"c.13_22dup"	"r.(?)"	"p.(Gln8Profs*78)"	"1"
"0000170025"	"00018666"	"70"	"943"	"0"	"943"	"0"	"c.943G>A"	"r.(?)"	"p.(Gly315Ser)"	"7"
"0000170026"	"00018666"	"70"	"1397"	"0"	"1397"	"0"	"c.1397G>A"	"r.(?)"	"p.(Arg466Gln)"	"11"
"0000170027"	"00018666"	"70"	"1405"	"0"	"1405"	"0"	"c.1405C>T"	"r.(?)"	"p.(Arg469Trp)"	"11"
"0000170028"	"00018666"	"70"	"1405"	"0"	"1405"	"0"	"c.1405C>T"	"r.(?)"	"p.(Arg469Trp)"	"11"
"0000170029"	"00018666"	"50"	"1092"	"6"	"1092"	"6"	"c.1092+6C>G"	"r.(spl?)"	"p.(=)"	"8i"
"0000170030"	"00018666"	"50"	"1092"	"6"	"1092"	"6"	"c.1092+6C>G"	"r.(spl?)"	"p.(=)"	"8i"
"0000170031"	"00018666"	"70"	"943"	"0"	"943"	"0"	"c.943G>A"	"r.(?)"	"p.(Gly315Ser)"	"7"
"0000170032"	"00018666"	"70"	"943"	"0"	"943"	"0"	"c.943G>A"	"r.(?)"	"p.(Gly315Ser)"	"7"
"0000170033"	"00018666"	"90"	"713"	"0"	"713"	"0"	"c.713dup"	"r.(?)"	"p.(Asn238Lysfs*63)"	"5"
"0000170034"	"00018666"	"90"	"713"	"0"	"713"	"0"	"c.713dup"	"r.(?)"	"p.(Asn238Lysfs*63)"	"5"
"0000170035"	"00018666"	"90"	"713"	"0"	"713"	"0"	"c.713dup"	"r.(?)"	"p.(Asn238Lysfs*63)"	"5"
"0000170036"	"00018666"	"90"	"713"	"0"	"713"	"0"	"c.713dup"	"r.(?)"	"p.(Asn238Lysfs*63)"	"5"
"0000170037"	"00018666"	"71"	"583"	"0"	"583"	"0"	"c.583G>A"	"r.(?)"	"p.(Ala195Thr)"	"5"
"0000170038"	"00018666"	"71"	"583"	"0"	"583"	"0"	"c.583G>A"	"r.(?)"	"p.(Ala195Thr)"	"5"
"0000170039"	"00018666"	"70"	"943"	"0"	"943"	"0"	"c.943G>A"	"r.(?)"	"p.(Gly315Ser)"	"7"
"0000170040"	"00018666"	"70"	"1397"	"0"	"1397"	"0"	"c.1397G>A"	"r.(?)"	"p.(Arg466Gln)"	"11"
"0000170041"	"00018666"	"90"	"1"	"0"	"1"	"0"	"c.1A>G"	"r.(?)"	"p.(Met1Val)"	"1"
"0000170042"	"00018666"	"70"	"943"	"0"	"943"	"0"	"c.943G>A"	"r.(?)"	"p.(Gly315Ser)"	"7"
"0000170043"	"00018666"	"70"	"802"	"0"	"802"	"0"	"c.802C>A"	"r.(?)"	"p.(Arg268Ser)"	"6"
"0000170044"	"00018666"	"70"	"1730"	"0"	"1730"	"0"	"c.1730T>C"	"r.(?)"	"p.(Leu577Pro)"	"13"
"0000170045"	"00018666"	"71"	"583"	"0"	"583"	"0"	"c.583G>A"	"r.(?)"	"p.(Ala195Thr)"	"5"
"0000170046"	"00018666"	"71"	"583"	"0"	"583"	"0"	"c.583G>A"	"r.(?)"	"p.(Ala195Thr)"	"5"
"0000170047"	"00018666"	"70"	"943"	"0"	"943"	"0"	"c.943G>A"	"r.(?)"	"p.(Gly315Ser)"	"7"
"0000170048"	"00018666"	"70"	"1332"	"0"	"1334"	"0"	"c.1332_1334del"	"r.(?)"	"p.(Asn444del)"	"10"
"0000170049"	"00018666"	"90"	"571"	"0"	"572"	"0"	"c.571_572del"	"r.(?)"	"p.(Trp191Aspfs*28)"	"5"
"0000170050"	"00018666"	"90"	"571"	"0"	"572"	"0"	"c.571_572del"	"r.(?)"	"p.(Trp191Aspfs*28)"	"5"
"0000170051"	"00018666"	"90"	"965"	"0"	"967"	"0"	"c.965_967delinsCATCATCT"	"r.(?)"	"p.(Asp322Alafs*20)"	"7"
"0000170052"	"00018666"	"90"	"943"	"0"	"943"	"0"	"c.943G>A"	"r.(?)"	"p.(Gly315Ser)"	"7"
"0000170053"	"00018666"	"90"	"2"	"0"	"2"	"0"	"c.2T>G"	"r.(?)"	"p.0?"	"1"
"0000170054"	"00018666"	"90"	"2"	"0"	"2"	"0"	"c.2T>G"	"r.(?)"	"p.0?"	"1"
"0000170055"	"00018666"	"90"	"-11"	"0"	"81"	"0"	"c.-11_81del"	"r.(?)"	"p.0?"	"1"
"0000170056"	"00018666"	"90"	"943"	"0"	"943"	"0"	"c.943G>A"	"r.(?)"	"p.(Gly315Ser)"	"7"
"0000170057"	"00018666"	"90"	"943"	"0"	"943"	"0"	"c.943G>A"	"r.(?)"	"p.(Gly315Ser)"	"7"
"0000170058"	"00018666"	"90"	"1"	"0"	"1"	"0"	"c.1A>G"	"r.(?)"	"p.0?"	"1"
"0000170059"	"00018666"	"90"	"713"	"0"	"713"	"0"	"c.713dup"	"r.(?)"	"p.(Asn238Lysfs*62)"	"5"
"0000170060"	"00018666"	"90"	"1397"	"0"	"1397"	"0"	"c.1397G>A"	"r.(?)"	"p.(Arg466Gln)"	"11"
"0000170061"	"00018666"	"90"	"-30"	"0"	"64"	"0"	"c.-30_64del"	"r.(?)"	"p.?"	"1"
"0000170062"	"00018666"	"90"	"-30"	"0"	"64"	"0"	"c.-30_64del"	"r.(?)"	"p.?"	"1"
"0000170063"	"00018666"	"90"	"1315"	"0"	"1315"	"0"	"c.1315C>T"	"r.(?)"	"p.(Arg439*)"	"10"
"0000170064"	"00018666"	"90"	"1315"	"0"	"1315"	"0"	"c.1315C>T"	"r.(?)"	"p.(Arg439*)"	"10"
"0000170065"	"00018666"	"30"	"409"	"0"	"409"	"0"	"c.409A>G"	"r.(?)"	"p.(Thr137Ala)"	"4"
"0000170066"	"00018666"	"90"	"943"	"0"	"943"	"0"	"c.943G>A"	"r.(?)"	"p.(Gly315Ser)"	"7"
"0000170067"	"00018666"	"90"	"746"	"0"	"747"	"38"	"c.746_747+38del"	"r.(?)"	"p.?"	"5_5i"
"0000170068"	"00018666"	"30"	"583"	"0"	"583"	"0"	"c.583G>A"	"r.(?)"	"p.(Ala195Thr)"	"5"
"0000170069"	"00018666"	"90"	"9"	"0"	"33"	"0"	"c.9_33del"	"r.(?)"	"p.(Ala4fs*54)"	"1"
"0000170070"	"00018666"	"90"	"871"	"0"	"871"	"0"	"c.871C>T"	"r.(?)"	"p.(Arg291Trp)"	"6"
"0000170071"	"00018666"	"50"	"-12"	"0"	"-12"	"0"	"c.-12C>G"	"r.(?)"	"p.(=)"	"1"
"0000170072"	"00018666"	"50"	"-12"	"0"	"-12"	"0"	"c.-12C>G"	"r.(?)"	"p.(=)"	"1"
"0000170073"	"00018666"	"50"	"1084"	"0"	"1084"	"0"	"c.1084A>G"	"r.(?)"	"p.(Ile362Val)"	"8"
"0000170074"	"00018666"	"50"	"1745"	"0"	"1745"	"0"	"c.1745G>A"	"r.(?)"	"p.(Arg582Gln)"	"13"
"0000170075"	"00018666"	"90"	"943"	"0"	"943"	"0"	"c.943G>A"	"r.(?)"	"p.(Gly315Ser)"	"7"
"0000170076"	"00018666"	"90"	"943"	"0"	"943"	"0"	"c.943G>A"	"r.(?)"	"p.(Gly315Ser)"	"7"
"0000170077"	"00018666"	"90"	"166"	"0"	"166"	"0"	"c.166C>T"	"r.(?)"	"p.(Gln56*)"	"1"
"0000170078"	"00018666"	"90"	"166"	"0"	"166"	"0"	"c.166C>T"	"r.(?)"	"p.(Gln56*)"	"1"
"0000170079"	"00018666"	"30"	"820"	"0"	"820"	"0"	"c.820G>C"	"r.(?)"	"p.(Ala274Pro)"	"6"
"0000170080"	"00018666"	"30"	"820"	"0"	"820"	"0"	"c.820G>C"	"r.(?)"	"p.(Ala274Pro)"	"6"
"0000170081"	"00018666"	"90"	"1282"	"-2"	"1282"	"-2"	"c.1282-2A>C"	"r.spl?"	"p.?"	"9i"
"0000170082"	"00018666"	"90"	"1282"	"-2"	"1282"	"-2"	"c.1282-2A>C"	"r.spl?"	"p.?"	"9i"
"0000170083"	"00018666"	"90"	"943"	"0"	"943"	"0"	"c.943G>A"	"r.(?)"	"p.(Gly315Ser)"	"7"
"0000170084"	"00018666"	"90"	"943"	"0"	"943"	"0"	"c.943G>A"	"r.(?)"	"p.(Gly315Ser)"	"7"
"0000170085"	"00018666"	"90"	"13"	"0"	"22"	"0"	"c.13_22dup"	"r.(?)"	"p.(Gln8Profs*78)"	"1"
"0000170086"	"00018666"	"90"	"13"	"0"	"22"	"0"	"c.13_22dup"	"r.(?)"	"p.(Gln8Profs*78)"	"1"
"0000170087"	"00018666"	"90"	"9"	"0"	"33"	"0"	"c.9_33del"	"r.(?)"	"p.(Arg4Profs*54)"	"1"
"0000170088"	"00018666"	"90"	"1281"	"2"	"1281"	"2"	"c.1281+2T>C"	"r.spl?"	"p.?"	"9i"
"0000170089"	"00018666"	"90"	"802"	"0"	"802"	"0"	"c.802C>T"	"r.(?)"	"p.(Arg268Cys)"	"6"
"0000170090"	"00018666"	"90"	"1358"	"0"	"1358"	"0"	"c.1358G>C"	"r.(?)"	"p.(Trp453Ser)"	"10"
"0000170091"	"00018666"	"50"	"1745"	"0"	"1745"	"0"	"c.1745G>A"	"r.(?)"	"p.(Arg582Gln)"	"13"
"0000170092"	"00018666"	"30"	"820"	"0"	"820"	"0"	"c.820G>C"	"r.(?)"	"p.(Ala274Pro)"	"6"
"0000170093"	"00018666"	"30"	"820"	"0"	"820"	"0"	"c.820G>C"	"r.(?)"	"p.(Ala274Pro)"	"6"
"0000170094"	"00018666"	"90"	"943"	"0"	"943"	"0"	"c.943G>A"	"r.(?)"	"p.(Gly315Ser)"	"7"
"0000170095"	"00018666"	"90"	"1281"	"2"	"1281"	"2"	"c.1281+2T>C"	"r.spl?"	"p.?"	"9i"
"0000170096"	"00018666"	"90"	"1446"	"0"	"1446"	"0"	"c.1446del"	"r.(?)"	"p.(Asn483Thrfs*11)"	"11"
"0000170097"	"00018666"	"90"	"1387"	"1"	"1387"	"1"	"c.1387+1G>A"	"r.spl?"	"p.?"	"10i"
"0000170098"	"00018666"	"50"	"1592"	"0"	"1592"	"0"	"c.1592A>G"	"r.(?)"	"p.(Asn531Ser)"	"12"
"0000170099"	"00018666"	"30"	"409"	"0"	"409"	"0"	"c.409A>G"	"r.(?)"	"p.(Thr137Ala)"	"4"
"0000170100"	"00018666"	"30"	"1011"	"-26"	"1011"	"-26"	"c.1011-26G>T"	"r.(?)"	"p.(?)"	"7i"
"0000170101"	"00018666"	"90"	"1151"	"0"	"1153"	"0"	"c.1151_1153del"	"r.(?)"	"p.(Ser384del)"	"9"
"0000170102"	"00018666"	"90"	"1"	"0"	"1"	"0"	"c.1A>G"	"r.(?)"	"p.0?"	"1"
"0000170103"	"00018666"	"90"	"883"	"0"	"883"	"0"	"c.883G>A"	"r.(?)"	"p.(Glu295Lys)"	"7"
"0000170104"	"00018666"	"90"	"1282"	"-2"	"1282"	"-2"	"c.1282-2A>C"	"r.spl?"	"p.?"	"9i"
"0000170105"	"00018666"	"90"	"1282"	"-2"	"1282"	"-2"	"c.1282-2A>C"	"r.spl?"	"p.?"	"9i"
"0000170106"	"00018666"	"70"	"802"	"0"	"802"	"0"	"c.802C>T"	"r.(?)"	"p.(Arg268Cys)"	"6"
"0000170107"	"00018666"	"90"	"943"	"0"	"943"	"0"	"c.943G>A"	"r.(?)"	"p.(Gly315Ser)"	"7"
"0000170108"	"00018666"	"90"	"713"	"0"	"713"	"0"	"c.713dup"	"r.(?)"	"p.(Asn238Lysfs*62)"	"5"
"0000170109"	"00018666"	"90"	"943"	"0"	"943"	"0"	"c.943G>A"	"r.(?)"	"p.(Gly315Ser)"	"7"
"0000170110"	"00018666"	"30"	"820"	"0"	"820"	"0"	"c.820G>C"	"r.(?)"	"p.(Ala274Pro)"	"6"
"0000170111"	"00018666"	"30"	"820"	"0"	"820"	"0"	"c.820G>C"	"r.(?)"	"p.(Ala274Pro)"	"6"
"0000170112"	"00018666"	"50"	"1636"	"0"	"1636"	"0"	"c.1636A>G"	"r.(?)"	"p.(Ile546Val)"	"13"
"0000170113"	"00018666"	"70"	"893"	"0"	"893"	"0"	"c.893T>C"	"r.(?)"	"p.(Leu298Pro)"	"7"
"0000170114"	"00018666"	"70"	"1396"	"0"	"1396"	"0"	"c.1396C>T"	"r.(?)"	"p.(Arg466Trp)"	"11"
"0000170115"	"00018666"	"30"	"409"	"0"	"409"	"0"	"c.409A>G"	"r.(?)"	"p.(Thr137Ala)"	"4"
"0000170116"	"00018666"	"90"	"-11"	"0"	"81"	"0"	"c.-11_81del"	"r.(?)"	"p.0?"	"1"
"0000170117"	"00018666"	"70"	"944"	"0"	"944"	"0"	"c.944G>A"	"r.(?)"	"p.(Gly315Asp)"	"7"
"0000170118"	"00018666"	"90"	"1"	"0"	"1"	"0"	"c.1A>G"	"r.(?)"	"p.0?"	"1"
"0000170119"	"00018666"	"90"	"943"	"0"	"943"	"0"	"c.943G>A"	"r.(?)"	"p.(Gly315Ser)"	"7"
"0000170120"	"00018666"	"30"	"409"	"0"	"409"	"0"	"c.409A>G"	"r.(?)"	"p.(Thr137Ala)"	"4"
"0000170121"	"00018666"	"30"	"583"	"0"	"583"	"0"	"c.583G>A"	"r.(?)"	"p.(Ala195Thr)"	"5"
"0000170122"	"00018666"	"30"	"583"	"0"	"583"	"0"	"c.583G>A"	"r.(?)"	"p.(Ala195Thr)"	"5"
"0000170123"	"00018666"	"70"	"820"	"0"	"820"	"0"	"c.820G>C"	"r.(?)"	"p.(Ala274Pro)"	"6"
"0000170124"	"00018666"	"70"	"820"	"0"	"820"	"0"	"c.820G>C"	"r.(?)"	"p.(Ala274Pro)"	"6"
"0000170125"	"00018666"	"50"	"103"	"0"	"103"	"0"	"c.103G>C"	"r.(?)"	"p.(Gly35Arg)"	"1"
"0000170126"	"00018666"	"50"	"1654"	"0"	"1654"	"0"	"c.1654G>A"	"r.(?)"	"p.(Glu552Lys)"	"13"
"0000170127"	"00018666"	"90"	"802"	"0"	"802"	"0"	"c.802C>T"	"r.(?)"	"p.(Arg268Cys)"	"6"
"0000170128"	"00018666"	"70"	"943"	"0"	"943"	"0"	"c.943G>A"	"r.(?)"	"p.(Gly315Ser)"	"7"
"0000170129"	"00018666"	"90"	"56"	"0"	"83"	"0"	"c.56_83dup"	"r.(?)"	"p.(Arg29Alafs*63)"	"1"
"0000170130"	"00018666"	"90"	"943"	"0"	"943"	"0"	"c.943G>A"	"r.(?)"	"p.(Gly315Ser)"	"7"
"0000170131"	"00018666"	"50"	"103"	"0"	"103"	"0"	"c.103G>C"	"r.(?)"	"p.(Gly35Arg)"	"1"
"0000170132"	"00018666"	"50"	"1654"	"0"	"1654"	"0"	"c.1654G>A"	"r.(?)"	"p.(Glu552Lys)"	"13"
"0000170133"	"00018666"	"90"	"446"	"0"	"446"	"0"	"c.446dup"	"r.(?)"	"p.(Asp150*)"	"4"
"0000170134"	"00018666"	"90"	"1315"	"0"	"1315"	"0"	"c.1315C>T"	"r.(?)"	"p.(Arg439*)"	"10"
"0000170135"	"00018666"	"50"	"1094"	"0"	"1094"	"0"	"c.1094T>G"	"r.(?)"	"p.(Met365Arg)"	"9"
"0000170136"	"00018666"	"50"	"1094"	"0"	"1094"	"0"	"c.1094T>G"	"r.(?)"	"p.(Met365Arg)"	"9"
"0000170137"	"00018666"	"90"	"943"	"0"	"943"	"0"	"c.943G>A"	"r.(?)"	"p.(Gly315Ser)"	"7"
"0000170138"	"00018666"	"90"	"-30"	"0"	"64"	"0"	"c.-30_64del"	"r.(?)"	"p.0?"	"1"
"0000170139"	"00018666"	"90"	"802"	"0"	"802"	"0"	"c.802C>T"	"r.(?)"	"p.(Arg268Cys)"	"6"
"0000170140"	"00018666"	"90"	"1406"	"0"	"1406"	"0"	"c.1406G>A"	"r.(?)"	"p.(Arg469Gln)"	"11"
"0000170141"	"00018666"	"70"	"163"	"0"	"163"	"0"	"c.163dup"	"r.(?)"	"p.(Ala55Glyfs*28)"	"1"
"0000170142"	"00018666"	"70"	"-10"	"0"	"135"	"0"	"c.-10_135del"	"r.(?)"	"p.0?"	"1"
"0000170143"	"00018666"	"10"	"-42"	"0"	"-42"	"0"	"c.-42T>C"	"r.(?)"	"p.(=)"	"1"
"0000170144"	"00018666"	"90"	"13"	"0"	"22"	"0"	"c.13_22dup"	"r.(?)"	"p.(Gln8Profs*78)"	"1"
"0000170145"	"00018666"	"50"	"42"	"0"	"42"	"0"	"c.42C>T"	"r.(?)"	"p.(=)"	"1"
"0000170146"	"00018666"	"50"	"402"	"0"	"403"	"2"	"c.402_403+2del"	"r.spl"	"p.?"	"3_3i"
"0000170147"	"00018666"	"10"	"409"	"0"	"409"	"0"	"c.409A>G"	"r.(?)"	"p.(Thr137Ala)"	"4"
"0000170148"	"00018666"	"10"	"425"	"0"	"425"	"0"	"c.425G>A"	"r.(?)"	"p.(Cys142Tyr)"	"4"
"0000170149"	"00018666"	"50"	"436"	"0"	"438"	"0"	"c.436_438dup"	"r.(?)"	"p.(Glu146dup)"	"4"
"0000170150"	"00018666"	"10"	"583"	"0"	"583"	"0"	"c.583G>A"	"r.(?)"	"p.(Ala195Thr)"	"5"
"0000170151"	"00018666"	"50"	"747"	"39"	"747"	"39"	"c.747+39C>T"	"r.(?)"	"p.(=)"	"5i"
"0000170152"	"00018666"	"10"	"748"	"-40"	"748"	"-40"	"c.748-40G>A"	"r.(?)"	"p.(=)"	"5i"
"0000170153"	"00018666"	"10"	"846"	"0"	"846"	"0"	"c.846C>T"	"r.(?)"	"p.(=)"	"6"
"0000170154"	"00018666"	"90"	"943"	"0"	"943"	"0"	"c.943G>A"	"r.(?)"	"p.(Gly315Ser)"	"7"
"0000170155"	"00018666"	"10"	"981"	"0"	"981"	"0"	"c.981C>T"	"r.(?)"	"p.(=)"	"7"
"0000170156"	"00018666"	"10"	"1093"	"-46"	"1093"	"-46"	"c.1093-46C>A"	"r.(?)"	"p.(=)"	"8i"
"0000170157"	"00018666"	"10"	"1173"	"0"	"1173"	"0"	"c.1173T>C"	"r.(?)"	"p.(=)"	"9"
"0000170158"	"00018666"	"50"	"1281"	"42"	"1281"	"42"	"c.1281+42G>A"	"r.(?)"	"p.(=)"	"9i"
"0000170159"	"00018666"	"10"	"1282"	"-41"	"1282"	"-41"	"c.1282-41C>T"	"r.(?)"	"p.(=)"	"9i"
"0000170160"	"00018666"	"10"	"1387"	"11"	"1387"	"11"	"c.1387+11C>T"	"r.(?)"	"p.(=)"	"10i"
"0000170161"	"00018666"	"50"	"1500"	"7"	"1500"	"7"	"c.1500+7G>A"	"r.(?)"	"p.(=)"	"11i"
"0000170162"	"00018666"	"10"	"1501"	"-31"	"1501"	"-31"	"c.1501-31C>T"	"r.(?)"	"p.(=)"	"11i"
"0000170163"	"00018666"	"10"	"1506"	"0"	"1506"	"0"	"c.1506C>A"	"r.(?)"	"p.(Asn520Lys)"	"12"
"0000170164"	"00018666"	"50"	"1645"	"0"	"1645"	"0"	"c.1645G>A"	"r.(?)"	"p.(Val549Met)"	"13"
"0000170165"	"00018666"	"50"	"1715"	"0"	"1715"	"0"	"c.1715C>A"	"r.(?)"	"p.(Thr572Asn)"	"13"
"0000170166"	"00018666"	"10"	"1745"	"0"	"1745"	"0"	"c.1745G>A"	"r.(?)"	"p.(Arg582Gln)"	"13"
"0000170167"	"00018666"	"50"	"1817"	"0"	"1817"	"0"	"c.*44G>T"	"r.(?)"	"p.(=)"	"13"
"0000170168"	"00018666"	"90"	"943"	"0"	"943"	"0"	"c.943G>A"	"r.(?)"	"p.(Gly315Ser)"	"7"
"0000170169"	"00018666"	"90"	"943"	"0"	"943"	"0"	"c.943G>A"	"r.(?)"	"p.(Gly315Ser)"	"7"
"0000170170"	"00018666"	"90"	"13"	"0"	"22"	"0"	"c.13_22dup"	"r.(?)"	"p.(Gln8Profs*78)"	"1"
"0000170171"	"00018666"	"70"	"538"	"-2"	"538"	"-2"	"c.538-2A>T"	"r.spl"	"p.?"	"4i"
"0000170172"	"00018666"	"70"	"125"	"0"	"136"	"0"	"c.125_136dup"	"r.(?)"	"p.(Ala42_Ala45dup)"	"1"
"0000170173"	"00018666"	"70"	"1249"	"0"	"1249"	"0"	"c.1249C>T"	"r.(?)"	"p.(Arg417Cys)"	"9"
"0000170174"	"00018666"	"90"	"13"	"0"	"22"	"0"	"c.13_22dup"	"r.(?)"	"p.(Gln8Profs*78)"	"1"
"0000170175"	"00018666"	"90"	"871"	"0"	"871"	"0"	"c.871C>T"	"r.(?)"	"p.(Arg291Trp)"	"6"
"0000170176"	"00018666"	"50"	"1162"	"0"	"1162"	"0"	"c.1162A>G"	"r.(?)"	"p.(Ser388Gly)"	"9"
"0000170177"	"00018666"	"70"	"803"	"0"	"803"	"0"	"c.803G>A"	"r.(?)"	"p.(Arg268His)"	"6"
"0000170178"	"00018666"	"90"	"1446"	"0"	"1446"	"0"	"c.1446del"	"r.(?)"	"p.(Asn483Thrfs*11)"	"11"
"0000170179"	"00018666"	"90"	"683"	"0"	"689"	"0"	"c.683_689dup"	"r.(?)"	"p.(Met230Ilefs*73)"	"5"
"0000170180"	"00018666"	"90"	"943"	"0"	"943"	"0"	"c.943G>A"	"r.(?)"	"p.(Gly315Ser)"	"7"
"0000170181"	"00018666"	"10"	"4109"	"0"	"4109"	"0"	"c.*2336A>T"	"r.(?)"	"p.(=)"	"13"
"0000170182"	"00018666"	"10"	"1329"	"0"	"1329"	"0"	"c.1329G>A"	"r.(?)"	"p.(=)"	"10"
"0000170183"	"00018666"	"10"	"3385"	"0"	"3385"	"0"	"c.*1612T>C"	"r.(?)"	"p.(=)"	"13"
"0000170184"	"00018666"	"10"	"3495"	"0"	"3495"	"0"	"c.*1722T>C"	"r.(?)"	"p.(=)"	"13"
"0000170185"	"00018666"	"10"	"4238"	"0"	"4238"	"0"	"c.*2465G>A"	"r.(?)"	"p.(=)"	"13"
"0000170186"	"00018666"	"90"	"1388"	"0"	"1388"	"0"	"c.1388G>T"	"r.(spl?)"	"p.(Glu463Val)"	"11"
"0000170187"	"00018666"	"10"	"1388"	"0"	"1388"	"0"	"c.1388G>T"	"r.(spl?)"	"p.(Glu463Val)"	"11"
"0000170188"	"00018666"	"90"	"1397"	"0"	"1397"	"0"	"c.1397G>A"	"r.(?)"	"p.(Arg466Gln)"	"11"
"0000170189"	"00018666"	"90"	"1397"	"0"	"1397"	"0"	"c.1397G>A"	"r.(?)"	"p.(Arg466Gln)"	"11"
"0000170190"	"00018666"	"50"	"1405"	"0"	"1405"	"0"	"c.1405C>T"	"r.(?)"	"p.(Arg469Trp)"	"11"
"0000170191"	"00018666"	"70"	"1405"	"0"	"1405"	"0"	"c.1405C>T"	"r.(?)"	"p.(Arg469Trp)"	"11"
"0000170192"	"00018666"	"50"	"1406"	"0"	"1406"	"0"	"c.1406G>A"	"r.(?)"	"p.(Arg469Gln)"	"11"
"0000170193"	"00018666"	"30"	"1406"	"0"	"1406"	"0"	"c.1406G>A"	"r.(?)"	"p.(Arg469Gln)"	"11"
"0000170194"	"00018666"	"90"	"2880"	"0"	"2880"	"0"	"c.*1107T>C"	"r.*1107u>c"	"p.="	"13"
"0000245420"	"00018666"	"30"	"409"	"0"	"409"	"0"	"c.409A>G"	"r.(?)"	"p.?"	""
"0000251757"	"00018666"	"30"	"409"	"0"	"409"	"0"	"c.409A>G"	"r.(?)"	"p.?"	""
"0000295721"	"00018666"	"10"	"1092"	"6"	"1092"	"6"	"c.1092+6C>G"	"r.(=)"	"p.(=)"	""
"0000295722"	"00018666"	"10"	"1093"	"-46"	"1093"	"-46"	"c.1093-46C>A"	"r.(=)"	"p.(=)"	""
"0000295724"	"00018666"	"10"	"1282"	"-41"	"1282"	"-41"	"c.1282-41C>T"	"r.(=)"	"p.(=)"	""
"0000295725"	"00018666"	"10"	"1506"	"0"	"1506"	"0"	"c.1506C>A"	"r.(?)"	"p.?"	""
"0000295726"	"00018666"	"10"	"302"	"-9"	"302"	"-8"	"c.302-9_302-8del"	"r.(=)"	"p.(=)"	""
"0000295727"	"00018666"	"10"	"425"	"0"	"425"	"0"	"c.425G>A"	"r.(?)"	"p.?"	""
"0000298100"	"00018666"	"10"	"1506"	"0"	"1506"	"0"	"c.1506C>A"	"r.(?)"	"p.?"	""
"0000298101"	"00018666"	"10"	"425"	"0"	"425"	"0"	"c.425G>A"	"r.(?)"	"p.?"	""
"0000302030"	"00018666"	"10"	"1092"	"6"	"1092"	"6"	"c.1092+6C>G"	"r.(=)"	"p.(=)"	""
"0000302031"	"00018666"	"10"	"1506"	"0"	"1506"	"0"	"c.1506C>A"	"r.(?)"	"p.?"	""
"0000302032"	"00018666"	"10"	"425"	"0"	"425"	"0"	"c.425G>A"	"r.(?)"	"p.?"	""
"0000302033"	"00018666"	"30"	"583"	"0"	"583"	"0"	"c.583G>A"	"r.(?)"	"p.?"	""
"0000320660"	"00018666"	"30"	"409"	"0"	"409"	"0"	"c.409A>G"	"r.(?)"	"p.?"	""
"0000320661"	"00018666"	"30"	"583"	"0"	"583"	"0"	"c.583G>A"	"r.(?)"	"p.?"	""
"0000320662"	"00018666"	"30"	"981"	"0"	"981"	"0"	"c.981C>T"	"r.(?)"	"p.?"	""
"0000320663"	"00018666"	"50"	"1535"	"0"	"1535"	"0"	"c.1535C>T"	"r.(?)"	"p.?"	""
"0000337634"	"00018666"	"10"	"-42"	"0"	"-42"	"0"	"c.-42T>C"	"r.(?)"	"p.(=)"	""
"0000337637"	"00018666"	"90"	"404"	"-1"	"404"	"-1"	"c.404-1G>A"	"r.spl?"	"p.?"	""
"0000337638"	"00018666"	"10"	"1092"	"6"	"1092"	"6"	"c.1092+6C>G"	"r.(=)"	"p.(=)"	""
"0000339771"	"00018666"	"10"	"1173"	"0"	"1173"	"0"	"c.1173T>C"	"r.(?)"	"p.?"	""
"0000342143"	"00018666"	"70"	"565"	"0"	"565"	"0"	"c.565C>T"	"r.(?)"	"p.?"	""
"0000342551"	"00018666"	"50"	"872"	"0"	"872"	"0"	"c.872G>A"	"r.(?)"	"p.?"	""
"0000343775"	"00018666"	"10"	"1506"	"0"	"1506"	"0"	"c.1506C>A"	"r.(?)"	"p.?"	""
"0000344274"	"00018666"	"10"	"425"	"0"	"425"	"0"	"c.425G>A"	"r.(?)"	"p.?"	""
"0000347693"	"00018666"	"90"	"1"	"0"	"1"	"0"	"c.1A>G"	"r.(?)"	"p.(Met1?)"	""
"0000408472"	"00018666"	"70"	"1388"	"-75"	"1517"	"0"	"c.(1387+1_1388-75)_(1517_1603-1)dup"	"r.?"	"p.?"	"10i_12i"
"0000439755"	"00018666"	"90"	"1397"	"0"	"1397"	"0"	"c.1397G>A"	"r.(?)"	"p.Arg466Gln"	""
"0000440020"	"00018666"	"50"	"1247"	"0"	"1247"	"0"	"c.1247G>A"	"r.(?)"	"p.Arg416Gln"	""
"0000454278"	"00018666"	"90"	"827"	"0"	"829"	"0"	"c.827_829dup"	"r.(827_829dup)"	"p.(Ala276_Cys277insSer)"	"6"
"0000506896"	"00018666"	"90"	"713"	"0"	"713"	"0"	"c.713dup"	"r.?"	"p.?"	""
"0000506897"	"00018666"	"90"	"872"	"0"	"872"	"0"	"c.872G>A"	"r.(?)"	"p.?"	""
"0000506898"	"00018666"	"90"	"943"	"0"	"943"	"0"	"c.943G>A"	"r.(?)"	"p.?"	""
"0000506899"	"00018666"	"10"	"981"	"0"	"981"	"0"	"c.981C>T"	"r.(?)"	"p.?"	""
"0000506900"	"00018666"	"50"	"1049"	"0"	"1049"	"0"	"c.1049G>C"	"r.(?)"	"p.?"	""
"0000506901"	"00018666"	"30"	"1092"	"6"	"1092"	"6"	"c.1092+6C>G"	"r.(=)"	"p.(=)"	""
"0000506902"	"00018666"	"30"	"1092"	"16"	"1092"	"16"	"c.1092+16G>C"	"r.(=)"	"p.(=)"	""
"0000506903"	"00018666"	"10"	"1173"	"0"	"1173"	"0"	"c.1173T>C"	"r.(?)"	"p.?"	""
"0000506904"	"00018666"	"10"	"1173"	"0"	"1173"	"0"	"c.1173T>C"	"r.(?)"	"p.?"	""
"0000506905"	"00018666"	"10"	"1173"	"0"	"1173"	"0"	"c.1173T>C"	"r.(?)"	"p.?"	""
"0000506906"	"00018666"	"50"	"1250"	"0"	"1250"	"0"	"c.1250G>A"	"r.(?)"	"p.?"	""
"0000506907"	"00018666"	"50"	"1391"	"0"	"1391"	"0"	"c.1391C>T"	"r.(?)"	"p.?"	""
"0000506908"	"00018666"	"50"	"1427"	"0"	"1427"	"0"	"c.1427C>T"	"r.(?)"	"p.?"	""
"0000506909"	"00018666"	"50"	"1654"	"0"	"1654"	"0"	"c.1654G>A"	"r.(?)"	"p.?"	""
"0000577976"	"00018666"	"90"	"713"	"0"	"713"	"0"	"c.713dup"	"r.(?)"	"p.(Asn238Lysfs*62)"	""
"0000577977"	"00018666"	"90"	"1397"	"0"	"1397"	"0"	"c.1397G>A"	"r.(?)"	"p.(Arg466Gln)"	""
"0000597605"	"00018666"	"90"	"1372"	"0"	"1372"	"0"	"c.1372G>A"	"r.(?)"	"p.(Asp458Asn)"	""
"0000629670"	"00018666"	"70"	"234"	"0"	"234"	"0"	"c.234del"	"r.(?)"	"p.?"	""
"0000629671"	"00018666"	"70"	"619"	"0"	"619"	"0"	"c.619del"	"r.(?)"	"p.?"	""
"0000646784"	"00018666"	"50"	"713"	"0"	"714"	"0"	"c.713_714dup"	"r.(?)"	"p.(Arg239Thrfs*19)"	""
"0000647138"	"00018666"	"50"	"1732"	"0"	"1734"	"0"	"c.1732_1734del"	"r.(?)"	"p.(Lys578del)"	""
"0000647661"	"00018666"	"50"	"409"	"0"	"409"	"0"	"c.409A>G"	"r.(?)"	"p.?"	""
"0000647662"	"00018666"	"50"	"550"	"0"	"550"	"0"	"c.550G>C"	"r.(?)"	"p.?"	""
"0000647663"	"00018666"	"10"	"583"	"0"	"583"	"0"	"c.583G>A"	"r.(?)"	"p.?"	""
"0000647664"	"00018666"	"90"	"1096"	"0"	"1096"	"0"	"c.1096G>T"	"r.(?)"	"p.?"	""
"0000647665"	"00018666"	"90"	"1315"	"0"	"1315"	"0"	"c.1315C>T"	"r.(?)"	"p.?"	""
"0000647666"	"00018666"	"70"	"1397"	"0"	"1397"	"0"	"c.1397G>A"	"r.(?)"	"p.?"	""
"0000647667"	"00018666"	"50"	"1645"	"0"	"1645"	"0"	"c.1645G>A"	"r.(?)"	"p.?"	""
"0000669012"	"00018666"	"50"	"1645"	"0"	"1645"	"0"	"c.1645G>A"	""	"p.?"	""
"0000675797"	"00018666"	"70"	"402"	"0"	"403"	"2"	"c.402_403+2del"	"r.spl?"	"p.?"	""
"0000675798"	"00018666"	"50"	"1427"	"0"	"1427"	"0"	"c.1427C>T"	"r.(?)"	"p.?"	""
"0000688121"	"00018666"	"30"	"415"	"0"	"415"	"0"	"c.415G>A"	"r.(?)"	"p.?"	""
"0000697709"	"00018666"	"70"	"272"	"0"	"273"	"0"	"c.272_273insCTGAT"	"r.(?)"	"p.(Glu91Aspfs*2)"	""
"0000697710"	"00018666"	"70"	"565"	"0"	"565"	"0"	"c.565C>T"	"r.(?)"	"p.(Arg189*)"	""
"0000697711"	"00018666"	"70"	"1735"	"0"	"1735"	"0"	"c.1735G>A"	"r.(?)"	"p.(Glu579Lys)"	""
"0000703913"	"00018666"	"70"	"-22"	"0"	"72"	"0"	"c.-22_72del"	"r.(?)"	"p.0?"	"1"
"0000703914"	"00018666"	"70"	"-11"	"0"	"81"	"0"	"c.-11_81del"	"r.(?)"	"p.0?"	"1"
"0000703915"	"00018666"	"70"	"1"	"0"	"1"	"0"	"c.1A>G"	"r.(?)"	"p.0?"	"1"
"0000703916"	"00018666"	"70"	"13"	"0"	"22"	"0"	"c.13_22dup"	"r.(?)"	"p.(Gln8Profs*78)"	"1"
"0000703917"	"00018666"	"70"	"8"	"0"	"12"	"0"	"c.8_12dup"	"r.(?)"	"p.(Gln8Argfs*60)"	"1"
"0000703918"	"00018666"	"70"	"44"	"0"	"72"	"0"	"c.44_72dup"	"r.(?)"	"p.(Arg25Alafs*51)"	"1"
"0000703919"	"00018666"	"70"	"69"	"0"	"76"	"0"	"c.69_76dup"	"r.(?)"	"p.(Arg26Hisfs*43)"	"1"
"0000703920"	"00018666"	"70"	"77"	"0"	"84"	"0"	"c.77_84dup"	"r.(?)"	"p.(Arg29Alafs*40)"	"1"
"0000703921"	"00018666"	"70"	"142"	"0"	"142"	"0"	"c.142del"	"r.(?)"	"p.(Val48Serfs*18)"	"1"
"0000703922"	"00018666"	"70"	"249"	"0"	"250"	"0"	"c.249_250dup"	"r.(?)"	"p.(Asp84Glyfs*17)"	"2"
"0000703923"	"00018666"	"70"	"279"	"0"	"279"	"0"	"c.279dup"	"r.(?)"	"p.(Pro94Thrfs*4)"	"2"
"0000703924"	"00018666"	"70"	"441"	"0"	"441"	"0"	"c.441dup"	"r.(?)"	"p.(Pro148Alafs*3)"	"4"
"0000703925"	"00018666"	"70"	"467"	"0"	"467"	"0"	"c.467T>C"	"r.(?)"	"p.(Leu156Pro)"	"4"
"0000703926"	"00018666"	"70"	"473"	"0"	"473"	"0"	"c.473T>G"	"r.(?)"	"p.(Ile158Thr)"	"4"
"0000703927"	"00018666"	"70"	"565"	"0"	"565"	"0"	"c.565C>T"	"r.(?)"	"p.(Arg189*)"	"5"
"0000703928"	"00018666"	"70"	"665"	"0"	"665"	"0"	"c.665G>A"	"r.(?)"	"p.(Trp222*)"	"5"
"0000703929"	"00018666"	"70"	"683"	"0"	"689"	"0"	"c.683_689dup"	"r.(?)"	"p.(Met230Ilefs*73)"	"5"
"0000703930"	"00018666"	"70"	"713"	"0"	"713"	"0"	"c.713dup"	"r.(?)"	"p.(Asn238Lysfs*63)"	"5"
"0000703931"	"00018666"	"70"	"714"	"0"	"715"	"0"	"c.714_715insA"	"r.(?)"	"p.(Arg239Thrfs*62)"	"5"
"0000703932"	"00018666"	"70"	"802"	"0"	"802"	"0"	"c.802C>T"	"r.(?)"	"p.(Arg268Cys)"	"6"
"0000703933"	"00018666"	"70"	"803"	"0"	"803"	"0"	"c.803G>A"	"r.(?)"	"p.(Arg268His)"	"6"
"0000703934"	"00018666"	"70"	"818"	"0"	"818"	"0"	"c.818G>A"	"r.(?)"	"p.(Gly273Glu)"	"6"
"0000703935"	"00018666"	"70"	"827"	"0"	"829"	"0"	"c.827_829dup"	"r.(?)"	"p.(Ala276Cys277insSer)"	"6"
"0000703936"	"00018666"	"70"	"863"	"0"	"864"	"0"	"c.863_864del"	"r.(?)"	"p.(Val288Aspfs*12)"	"6"
"0000703937"	"00018666"	"70"	"871"	"0"	"871"	"0"	"c.871C>T"	"r.(?)"	"p.(Arg291Trp)"	"6"
"0000703938"	"00018666"	"70"	"872"	"0"	"872"	"0"	"c.872G>A"	"r.(?)"	"p.(Arg291Gln)"	"6"
"0000703939"	"00018666"	"70"	"873"	"-1"	"1602"	"1"	"c.(872+1_873-1)_(1602+1_1603-1)del"	"r.?"	"p.?"	"6i_12i"
"0000703940"	"00018666"	"70"	"878"	"0"	"878"	"0"	"c.878A>G"	"r.(?)"	"p.(His293Arg)"	"7"
"0000703941"	"00018666"	"70"	"883"	"0"	"883"	"0"	"c.883G>A"	"r.(?)"	"p.(Glu295Lys)"	"7"
"0000703942"	"00018666"	"70"	"943"	"0"	"943"	"0"	"c.943G>A"	"r.(?)"	"p.(Gly315Ser)"	"7"
"0000703943"	"00018666"	"70"	"952"	"0"	"952"	"0"	"c.952del"	"r.(?)"	"p.(Ile318Serfs*22)"	"7"
"0000703944"	"00018666"	"70"	"976"	"0"	"976"	"0"	"c.976G>A"	"r.(?)"	"p.(Val326Ile)"	"7"
"0000703945"	"00018666"	"70"	"997"	"0"	"1000"	"0"	"c.997_1000del"	"r.(?)"	"p.(Val333Profs*6)"	"7"
"0000703946"	"00018666"	"70"	"1019"	"0"	"1019"	"0"	"c.1019A>T"	"r.(?)"	"p.(Asn340Ile)"	"8"
"0000703947"	"00018666"	"70"	"1076"	"0"	"1076"	"0"	"c.1076T>C"	"r.(?)"	"p.(Ile359Thr)"	"8"
"0000703948"	"00018666"	"70"	"1176"	"0"	"1176"	"0"	"c.1176del"	"r.(?)"	"p.(Ser392fs*1)"	"9"
"0000703949"	"00018666"	"70"	"1189"	"0"	"1189"	"0"	"c.1189C>T"	"r.(?)"	"p.(Gln397*)"	"9"
"0000703950"	"00018666"	"70"	"1269"	"0"	"1269"	"0"	"c.1269C>A"	"r.(?)"	"p.(Tyr423*)"	"9"
"0000703951"	"00018666"	"70"	"1315"	"0"	"1315"	"0"	"c.1315del"	"r.(?)"	"p.(Arg439Glufs*55)"	"10"
"0000703952"	"00018666"	"70"	"1315"	"0"	"1315"	"0"	"c.1315C>T"	"r.(?)"	"p.(Arg439*)"	"10"
"0000703953"	"00018666"	"70"	"1358"	"0"	"1358"	"0"	"c.1358G>C"	"r.(?)"	"p.(Trp453Ser)"	"10"
"0000703954"	"00018666"	"70"	"1379"	"0"	"1379"	"0"	"c.1379C>T"	"r.(?)"	"p.(Ser460Phe)"	"10"
"0000703955"	"00018666"	"70"	"1388"	"0"	"1388"	"0"	"c.1388G>T"	"r.(?)"	"p.(Gly463Val)"	"11"
"0000703956"	"00018666"	"70"	"1396"	"0"	"1396"	"0"	"c.1396C>T"	"r.(?)"	"p.(Arg466Trp)"	"11"
"0000703957"	"00018666"	"70"	"1397"	"0"	"1397"	"0"	"c.1397G>A"	"r.(?)"	"p.(Arg466Gln)"	"11"
"0000703958"	"00018666"	"70"	"1405"	"0"	"1405"	"0"	"c.1405C>T"	"r.(?)"	"p.(Arg469Trp)"	"11"
"0000703959"	"00018666"	"70"	"1406"	"0"	"1406"	"0"	"c.1406G>A"	"r.(?)"	"p.(Arg469Gln)"	"11"
"0000703960"	"00018666"	"70"	"1446"	"0"	"1446"	"0"	"c.1446del"	"r.(?)"	"p.(Leu482Profs*12)"	"11"
"0000703961"	"00018666"	"70"	"1469"	"0"	"1469"	"0"	"c.1469G>T"	"r.(?)"	"p.(Trp490Leu)"	"11"
"0000703962"	"00018666"	"70"	"1574"	"0"	"1574"	"0"	"c.1574T>G"	"r.(?)"	"p.(Met525Arg)"	"12"
"0000703963"	"00018666"	"70"	"1704"	"0"	"1705"	"0"	"c.1704_1705del"	"r.(?)"	"p.(Ser569Hisfs*29)"	"13"
"0000703964"	"00018666"	"70"	"2880"	"0"	"2880"	"0"	"c.*1107T>C"	"r.(?)"	"p.(=)"	"13"
"0000703965"	"00018666"	"70"	"1010"	"2"	"1010"	"2"	"c.1010+2T>G"	"r.spl"	"p.?"	"7i"
"0000703966"	"00018666"	"70"	"1093"	"-1"	"1093"	"-1"	"c.1093-1G>T"	"r.spl"	"p.?"	"8i"
"0000703967"	"00018666"	"70"	"1093"	"-41"	"1093"	"-40"	"c.1093-41_1093-40insTT"	"r.spl?"	"p.?"	"8i"
"0000703968"	"00018666"	"70"	"1603"	"-2"	"1603"	"-2"	"c.1603-2A>G"	"r.spl"	"p.?"	"12i"
"0000703969"	"00018666"	"70"	"404"	"-1"	"404"	"-1"	"c.404-1G>A"	"r.spl"	"p.?"	"3i"
"0000703970"	"00018666"	"70"	"873"	"-1"	"873"	"-1"	"c.873-1G>C"	"r.spl"	"p.?"	"6i"
"0000714912"	"00018666"	"90"	"951"	"0"	"951"	"0"	"c.951del"	"r.(?)"	"p.(Ile317Ilefs*23)"	"7"
"0000717401"	"00018666"	"50"	"1206"	"0"	"1206"	"0"	"c.1206G>C"	"r.(?)"	"p.?"	""
"0000787023"	"00018666"	"90"	"249"	"0"	"250"	"0"	"c.249_250dup"	"r.(?)"	"p.(Asp84GlyfsTer17)"	"2"
"0000787025"	"00018666"	"70"	"827"	"0"	"829"	"0"	"c.827_829dup"	"r.(?)"	"p.(Ala276_Cys277insSer)"	"6"
"0000787521"	"00018666"	"90"	"999"	"0"	"999"	"0"	"c.999del"	"r.(?)"	"p.(Asn335ThrfsTer5)"	"7"
"0000787523"	"00018666"	"90"	"1282"	"-2"	"1282"	"-2"	"c.1282-2A>C"	"r.spl"	"p.?"	"9i"
"0000799284"	"00018666"	"10"	"42"	"0"	"42"	"0"	"c.42C>T"	"r.(?)"	"p.?"	""
"0000799285"	"00018666"	"50"	"1427"	"0"	"1427"	"0"	"c.1427C>T"	"r.(?)"	"p.?"	""
"0000832950"	"00018666"	"70"	"301"	"1"	"301"	"1"	"c.301+1G>T"	"r.spl"	"p.?"	""
"0000832951"	"00018666"	"90"	"951"	"0"	"951"	"0"	"c.951del"	"r.(?)"	"p.(Ile318SerfsTer22)"	""
"0000832952"	"00018666"	"70"	"951"	"0"	"951"	"0"	"c.951del"	"r.(?)"	"p.(Ile318SerfsTer22)"	""
"0000832953"	"00018666"	"70"	"943"	"0"	"943"	"0"	"c.943G>C"	"r.(?)"	"p.(Gly315Arg)"	""
"0000832954"	"00018666"	"90"	"404"	"-1"	"404"	"-1"	"c.404-1G>A"	"r.spl"	"p.?"	""
"0000832955"	"00018666"	"70"	"877"	"0"	"877"	"0"	"c.877C>T"	"r.(?)"	"p.(His293Tyr)"	""
"0000832956"	"00018666"	"90"	"877"	"0"	"877"	"0"	"c.877C>T"	"r.(?)"	"p.(His293Tyr)"	""
"0000832999"	"00018666"	"90"	"1269"	"0"	"1269"	"0"	"c.1269C>A"	"r.(?)"	"p.(Tyr423Ter)"	""
"0000833000"	"00018666"	"90"	"1189"	"0"	"1189"	"0"	"c.1189C>T"	"r.(?)"	"p.(Gln397Ter)"	""
"0000833087"	"00018666"	"70"	"1189"	"0"	"1189"	"0"	"c.1189C>T"	"p.(Gln397*"	"p.(Gln397*)"	""
"0000833180"	"00018666"	"70"	"404"	"-1"	"404"	"-1"	"c.404-1G>A"	"r.spl"	"p.?"	""
"0000847028"	"00018666"	"90"	"1"	"0"	"1"	"0"	"c.1A>G"	"r.(?)"	"p.(Met1?)"	""
"0000857422"	"00018666"	"50"	"415"	"0"	"415"	"0"	"c.415G>A"	"r.(?)"	"p.?"	""
"0000857423"	"00018666"	"50"	"550"	"0"	"550"	"0"	"c.550G>C"	"r.(?)"	"p.?"	""
"0000857424"	"00018666"	"30"	"675"	"0"	"675"	"0"	"c.675C>T"	"r.(?)"	"p.?"	""
"0000857425"	"00018666"	"30"	"1162"	"0"	"1162"	"0"	"c.1162A>G"	"r.(?)"	"p.?"	""
"0000857426"	"00018666"	"50"	"1191"	"0"	"1191"	"0"	"c.1191G>T"	"r.(?)"	"p.?"	""
"0000857427"	"00018666"	"50"	"1197"	"0"	"1197"	"0"	"c.1197G>A"	"r.(?)"	"p.?"	""
"0000857428"	"00018666"	"30"	"1387"	"11"	"1387"	"11"	"c.1387+11C>T"	"r.(=)"	"p.(=)"	""
"0000857429"	"00018666"	"30"	"1428"	"0"	"1428"	"0"	"c.1428G>A"	"r.(?)"	"p.?"	""
"0000857430"	"00018666"	"30"	"1745"	"0"	"1745"	"0"	"c.1745G>A"	"r.(?)"	"p.?"	""
"0000869088"	"00018666"	"90"	"997"	"0"	"1000"	"0"	"c.997_1000del"	"r.(?)"	"p.(Val333ProfsTer)"	""
"0000869104"	"00018666"	"90"	"1339"	"0"	"1339"	"0"	"c.1339G>A"	"r.(?)"	"p.(Val447Met)"	""
"0000883364"	"00018666"	"30"	"729"	"0"	"729"	"0"	"c.729G>A"	"r.(?)"	"p.?"	""
"0000883365"	"00018666"	"30"	"1645"	"0"	"1645"	"0"	"c.1645G>A"	"r.(?)"	"p.?"	""
"0000883366"	"00018666"	"50"	"1715"	"0"	"1715"	"0"	"c.1715C>A"	"r.(?)"	"p.?"	""
"0000911038"	"00018666"	"50"	"712"	"0"	"712"	"0"	"c.712A>C"	"r.(?)"	"p.?"	""
"0000917163"	"00018666"	"50"	"1445"	"0"	"1445"	"0"	"c.1445T>C"	"r.(?)"	"p.(Leu482Pro)"	""
"0000923145"	"00018666"	"10"	"183"	"116"	"183"	"116"	"c.183+116G>A"	"r.(=)"	"p.(=)"	""
"0000923146"	"00018666"	"10"	"302"	"-200"	"302"	"-200"	"c.302-200C>T"	"r.(=)"	"p.(=)"	""
"0000923147"	"00018666"	"10"	"302"	"-8"	"302"	"-8"	"c.302-8del"	"r.(=)"	"p.(=)"	""
"0000923148"	"00018666"	"10"	"538"	"-145"	"538"	"-145"	"c.538-145C>G"	"r.(=)"	"p.(=)"	""
"0000923149"	"00018666"	"10"	"872"	"100"	"872"	"100"	"c.872+100C>G"	"r.(=)"	"p.(=)"	""
"0000923150"	"00018666"	"10"	"1093"	"-46"	"1093"	"-46"	"c.1093-46C>A"	"r.(=)"	"p.(=)"	""
"0000923151"	"00018666"	"10"	"1281"	"81"	"1281"	"81"	"c.1281+81A>G"	"r.(=)"	"p.(=)"	""
"0000923152"	"00018666"	"10"	"1282"	"-88"	"1282"	"-81"	"c.1282-88_1282-81del"	"r.(=)"	"p.(=)"	""
"0000923153"	"00018666"	"10"	"1282"	"-82"	"1282"	"-81"	"c.1282-82_1282-81dup"	"r.(=)"	"p.(=)"	""
"0000923154"	"00018666"	"10"	"1282"	"-41"	"1282"	"-41"	"c.1282-41C>T"	"r.(=)"	"p.(=)"	""
"0000923155"	"00018666"	"10"	"1387"	"109"	"1387"	"109"	"c.1387+109A>G"	"r.(=)"	"p.(=)"	""
"0000923156"	"00018666"	"10"	"1387"	"161"	"1387"	"161"	"c.1387+161G>A"	"r.(=)"	"p.(=)"	""
"0000923157"	"00018666"	"10"	"1388"	"-493"	"1388"	"-493"	"c.1388-493C>G"	"r.(=)"	"p.(=)"	""
"0000923158"	"00018666"	"10"	"1388"	"-453"	"1388"	"-453"	"c.1388-453C>T"	"r.(=)"	"p.(=)"	""
"0000927491"	"00018666"	"70"	"827"	"0"	"829"	"0"	"c.827_829dup"	"r.(?)"	"p.(Ala276_Cys277insSer)"	""
"0000936168"	"00018666"	"50"	"1445"	"0"	"1445"	"0"	"c.1445T>C"	"r.(?)"	"p.(Leu482Pro)"	""
"0000936586"	"00018666"	"70"	"-11"	"0"	"81"	"0"	"c.-11_81del"	"r.(?)"	"p.?"	""
"0000946033"	"00018666"	"90"	"943"	"0"	"943"	"0"	"c.943G>A"	"r.(?)"	"p.(Gly315Ser)"	""
"0000946034"	"00018666"	"90"	"713"	"0"	"713"	"0"	"c.713dup"	"r.(?)"	"p.(Asn238Lysfs3)"	""
"0000946035"	"00018666"	"90"	"713"	"0"	"713"	"0"	"c.713dup"	"r.(?)"	"p.(Asn238Lysfs4)"	""
"0000946056"	"00018666"	"90"	"943"	"0"	"943"	"0"	"c.943G>A"	"r.(?)"	"p.(Gly315Ser)"	""
"0000946057"	"00018666"	"50"	"1191"	"0"	"1191"	"0"	"c.1191G>T"	"r.(?)"	"p.(Gln397His)"	""
"0000946174"	"00018666"	"90"	"1545"	"0"	"1559"	"0"	"c.1545_1559delinsT"	"r.(?)"	"p.(Glu517ProfsTer45)"	""
"0000946175"	"00018666"	"90"	"1332"	"0"	"1334"	"0"	"c.1332_1334del"	"r.(?)"	"p.(Asn444del)"	""
"0000946219"	"00018666"	"90"	"713"	"0"	"713"	"0"	"c.713dup"	"r.(?)"	"p.(Asn238fs)"	""
"0000946220"	"00018666"	"90"	"943"	"0"	"943"	"0"	"c.943G>A"	"r.(?)"	"p.(Gly315Ser)"	""
"0000946221"	"00018666"	"90"	"943"	"0"	"943"	"0"	"c.943G>A"	"r.(?)"	"p.(Gly315Ser)"	""
"0000946222"	"00018666"	"90"	"943"	"0"	"943"	"0"	"c.943G>A"	"r.(?)"	"p.(Gly315Ser)"	""
"0000946223"	"00018666"	"90"	"1"	"0"	"1"	"0"	"c.1A>G"	"r.(?)"	"p.(Met1?)"	""
"0000946224"	"00018666"	"90"	"943"	"0"	"943"	"0"	"c.943G>A"	"r.(?)"	"p.(Gly315Ser)"	""
"0000946225"	"00018666"	"90"	"713"	"0"	"713"	"0"	"c.713dup"	"r.(?)"	"p.(Asn238fs)"	""
"0000946226"	"00018666"	"90"	"943"	"0"	"943"	"0"	"c.943G>A"	"r.(?)"	"p.(Gly315Ser)"	""
"0000946227"	"00018666"	"90"	"713"	"0"	"713"	"0"	"c.713dup"	"r.(?)"	"p.(Asn238fs)"	""
"0000946228"	"00018666"	"90"	"943"	"0"	"943"	"0"	"c.943G>A"	"r.(?)"	"p.(Gly315Ser)"	""
"0000946229"	"00018666"	"90"	"943"	"0"	"943"	"0"	"c.943G>A"	"r.(?)"	"p.(Gly315Ser)"	""
"0000946230"	"00018666"	"90"	"1332"	"0"	"1334"	"0"	"c.1332_1334del"	"r.(?)"	"p.(Asn444del)"	""
"0000946231"	"00018666"	"90"	"1332"	"0"	"1334"	"0"	"c.1332_1334del"	"r.(?)"	"p.(Asn444del)"	""
"0000946232"	"00018666"	"90"	"1332"	"0"	"1334"	"0"	"c.1332_1334del"	"r.(?)"	"p.(Asn444del)"	""
"0000946233"	"00018666"	"70"	"301"	"0"	"301"	"0"	"c.301G>C"	"r.spl?"	"p.(?,Gly101Arg)"	""
"0000946234"	"00018666"	"90"	"13"	"0"	"22"	"0"	"c.13_22dup"	"r.(?)"	"p.(Gln8fs)"	""
"0000947198"	"00018666"	"30"	"436"	"0"	"438"	"0"	"c.436_438dup"	"r.?"	"p.?"	""
"0000947199"	"00018666"	"50"	"791"	"0"	"791"	"0"	"c.791T>C"	"r.(?)"	"p.?"	""
"0000947200"	"00018666"	"50"	"1643"	"0"	"1643"	"0"	"c.1643C>T"	"r.(?)"	"p.?"	""
"0000947201"	"00018666"	"30"	"1645"	"0"	"1645"	"0"	"c.1645G>A"	"r.(?)"	"p.?"	""
"0000960994"	"00018666"	"50"	"729"	"0"	"729"	"0"	"c.729G>A"	"r.(?)"	"p.?"	""
"0000973868"	"00018666"	"50"	"847"	"0"	"847"	"0"	"c.847G>A"	"r.(?)"	"p.?"	""
"0000973869"	"00018666"	"50"	"1567"	"0"	"1567"	"0"	"c.1567G>A"	"r.(?)"	"p.?"	""
"0000973870"	"00018666"	"50"	"1654"	"0"	"1654"	"0"	"c.1654G>A"	"r.(?)"	"p.?"	""
"0000987496"	"00018666"	"50"	"1744"	"0"	"1744"	"0"	"c.1744C>T"	"r.(?)"	"p.(?)"	""
"0000991083"	"00018666"	"50"	"1427"	"0"	"1427"	"0"	"c.1427C>T"	"r.(?)"	"p.?"	""
"0000991084"	"00018666"	"50"	"1603"	"-14"	"1603"	"-14"	"c.1603-14G>A"	"r.(=)"	"p.(=)"	""
"0001013308"	"00018666"	"30"	"1344"	"0"	"1344"	"0"	"c.1344C>T"	"r.(?)"	"p.?"	""
"0001023926"	"00018666"	"70"	"425"	"0"	"453"	"0"	"c.425_453del"	"r.(425_453del)"	"p.(Cys142Ter)"	"4"
"0001023927"	"00018666"	"70"	"861"	"0"	"871"	"0"	"c.861_871del"	"r.spl?"	"p.(Val288Aspfs*9)"	"6"
"0001024148"	"00018666"	"50"	"1250"	"0"	"1250"	"0"	"c.1250G>A"	"r.(?)"	"p.?"	""
"0001031925"	"00018666"	"90"	"1397"	"0"	"1397"	"0"	"c.1397G>A"	"r.(?)"	"p.?"	""
"0001031926"	"00018666"	"70"	"1498"	"0"	"1498"	"0"	"c.1498C>T"	"r.(?)"	"p.?"	""


## Screenings_To_Variants ## Do not remove or alter this header ##
## Count = 500
"{{screeningid}}"	"{{variantid}}"
"0000037084"	"0000064209"
"0000037085"	"0000064210"
"0000037086"	"0000064211"
"0000037087"	"0000064212"
"0000037088"	"0000064213"
"0000037089"	"0000064214"
"0000037090"	"0000064215"
"0000037091"	"0000064216"
"0000037092"	"0000064217"
"0000054620"	"0000084570"
"0000104740"	"0000169790"
"0000104741"	"0000169791"
"0000104742"	"0000169792"
"0000104742"	"0000169793"
"0000104743"	"0000169794"
"0000104744"	"0000169796"
"0000104745"	"0000169798"
"0000104746"	"0000169800"
"0000104747"	"0000169802"
"0000104748"	"0000169804"
"0000104748"	"0000169805"
"0000104749"	"0000169806"
"0000104749"	"0000169807"
"0000104750"	"0000169808"
"0000104751"	"0000169810"
"0000104752"	"0000169812"
"0000104752"	"0000169813"
"0000104753"	"0000169814"
"0000104753"	"0000169815"
"0000104754"	"0000169816"
"0000104755"	"0000169818"
"0000104756"	"0000169820"
"0000104756"	"0000169821"
"0000104757"	"0000169822"
"0000104757"	"0000169823"
"0000104758"	"0000169824"
"0000104758"	"0000169825"
"0000104759"	"0000169826"
"0000104759"	"0000169827"
"0000104760"	"0000169828"
"0000104760"	"0000169829"
"0000104761"	"0000169830"
"0000104761"	"0000169831"
"0000104762"	"0000169832"
"0000104762"	"0000169833"
"0000104763"	"0000169834"
"0000104764"	"0000169836"
"0000104764"	"0000169837"
"0000104765"	"0000169838"
"0000104765"	"0000169839"
"0000104766"	"0000169840"
"0000104767"	"0000169842"
"0000104768"	"0000169844"
"0000104769"	"0000169846"
"0000104770"	"0000169848"
"0000104771"	"0000169850"
"0000104772"	"0000169852"
"0000104773"	"0000169854"
"0000104774"	"0000169856"
"0000104774"	"0000169857"
"0000104775"	"0000169858"
"0000104776"	"0000169860"
"0000104777"	"0000169862"
"0000104778"	"0000169864"
"0000104779"	"0000169866"
"0000104779"	"0000169867"
"0000104780"	"0000169868"
"0000104780"	"0000169869"
"0000104781"	"0000169870"
"0000104781"	"0000169871"
"0000104782"	"0000169872"
"0000104783"	"0000169874"
"0000104784"	"0000169876"
"0000104784"	"0000169877"
"0000104785"	"0000169878"
"0000104785"	"0000169879"
"0000104786"	"0000169880"
"0000104787"	"0000169881"
"0000104788"	"0000169882"
"0000104789"	"0000169883"
"0000104790"	"0000169884"
"0000104791"	"0000169885"
"0000104792"	"0000169886"
"0000104793"	"0000169887"
"0000104794"	"0000169888"
"0000104795"	"0000169889"
"0000104796"	"0000169890"
"0000104796"	"0000169891"
"0000104797"	"0000169892"
"0000104798"	"0000169893"
"0000104799"	"0000169894"
"0000104799"	"0000169895"
"0000104799"	"0000169896"
"0000104799"	"0000169897"
"0000104800"	"0000169898"
"0000104801"	"0000169899"
"0000104802"	"0000169900"
"0000104802"	"0000169901"
"0000104803"	"0000169902"
"0000104803"	"0000169903"
"0000104804"	"0000169904"
"0000104804"	"0000169905"
"0000104805"	"0000169906"
"0000104805"	"0000169907"
"0000104806"	"0000169908"
"0000104806"	"0000169909"
"0000104807"	"0000169910"
"0000104807"	"0000169911"
"0000104808"	"0000169912"
"0000104808"	"0000169913"
"0000104809"	"0000169914"
"0000104809"	"0000169915"
"0000104810"	"0000169916"
"0000104811"	"0000169917"
"0000104811"	"0000169918"
"0000104812"	"0000169919"
"0000104813"	"0000169920"
"0000104814"	"0000169921"
"0000104814"	"0000169922"
"0000104815"	"0000169923"
"0000104816"	"0000169924"
"0000104816"	"0000169925"
"0000104817"	"0000169926"
"0000104817"	"0000169927"
"0000104818"	"0000169928"
"0000104818"	"0000169929"
"0000104819"	"0000169930"
"0000104819"	"0000169931"
"0000104820"	"0000169932"
"0000104820"	"0000169933"
"0000104821"	"0000169934"
"0000104821"	"0000169935"
"0000104822"	"0000169936"
"0000104822"	"0000169937"
"0000104823"	"0000169938"
"0000104824"	"0000169939"
"0000104824"	"0000169940"
"0000104825"	"0000169941"
"0000104825"	"0000169942"
"0000104826"	"0000169943"
"0000104826"	"0000169944"
"0000104827"	"0000169945"
"0000104828"	"0000169946"
"0000104829"	"0000169947"
"0000104829"	"0000169948"
"0000104830"	"0000169949"
"0000104830"	"0000169950"
"0000104831"	"0000169951"
"0000104832"	"0000169953"
"0000104832"	"0000169954"
"0000104833"	"0000169955"
"0000104833"	"0000169956"
"0000104834"	"0000169957"
"0000104834"	"0000169958"
"0000104835"	"0000169959"
"0000104836"	"0000169961"
"0000104837"	"0000169963"
"0000104838"	"0000169965"
"0000104838"	"0000169966"
"0000104839"	"0000169967"
"0000104839"	"0000169968"
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