### LOVD-version 3000-30b ### Full data download ### To import, do not remove or alter this header ###
## Filter: (gene_public = TPM2)
# 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}}"
"TPM2"	"tropomyosin 2 (beta)"	"9"	"p13"	"unknown"	"NG_011620.1"	"UD_132118312630"	""	"https://www.LOVD.nl/TPM2"	""	"1"	"12011"	"7169"	"190990"	"1"	"1"	"1"	"1"	"This database is one of the gene variant databases from the:<a href=\"http://www.DMD.nl\" target=\"_blank\"><img src=\"docs/LOVD_LMDp-logo.png\"></a>"	""	"g"	"https://databases.lovd.nl/shared/refseq/TPM2_codingDNA.html"	"1"	""	"<font color=\"#FF0000\">This database is one of the gene variant databases from the <a href=\"http://www.DMD.nl\" target=\"_blank\">Leiden Muscular Dystrophy pages</a></font>"	"-1"	""	"-1"	"00001"	"2008-09-24 00:00:00"	"00006"	"2019-12-30 19:21:00"	"00000"	"2025-11-01 13:22:20"


## Transcripts ## Do not remove or alter this header ##
## Count = 2
"{{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}}"
"00021691"	"TPM2"	"transcript variant 1"	"002"	"NM_003289.3"	""	"NP_003280.2"	""	""	""	"-239"	"1088"	"855"	"35690053"	"35682923"	""	"0000-00-00 00:00:00"	""	""
"00025394"	"TPM2"	"transcript variant 2"	"002"	"NM_213674.1"	""	"NP_998839.1"	""	""	""	"-239"	"943"	"855"	"35690053"	"35681990"	"00006"	"2019-04-08 15:00:45"	""	""


## Diseases ## Do not remove or alter this header ##
## Count = 12
"{{id}}"	"{{symbol}}"	"{{name}}"	"{{inheritance}}"	"{{id_omim}}"	"{{tissues}}"	"{{features}}"	"{{remarks}}"	"{{created_by}}"	"{{created_date}}"	"{{edited_by}}"	"{{edited_date}}"
"00000"	"Healthy/Control"	"Healthy individual / control"	""	""	""	""	""	"00000"	"2012-07-26 17:29:43"	""	""
"00026"	"arthrogryposis"	"arthrogryposis"	""	""	""	""	""	"00001"	"2012-08-03 16:49:36"	"00006"	"2019-01-04 15:23:51"
"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"
"00385"	"DA"	"arthrogryposis, distal (DA)"	""	""	""	""	""	"00006"	"2014-05-27 12:44:13"	"00006"	"2015-12-08 23:59:30"
"01184"	"DA1A;DA2B4"	"arthrogryposis multiplex congenita, distal, type 1A (DA1A, DA2B4)"	"AD"	"108120"	""	""	""	"00006"	"2014-09-25 23:29:40"	"00006"	"2021-12-10 21:51:32"
"01959"	"CMYO4A;CFTD"	"myopathy, congenital, type 4A"	"AD"	"255310"	""	""	""	"00006"	"2014-09-25 23:29:40"	"00006"	"2025-02-07 14:49:08"
"02383"	"DA2B1"	"arthrogryposis, distal, type 2B1a"	"AD"	"601680"	""	""	""	"00006"	"2014-09-25 23:29:40"	"00006"	"2021-12-10 21:51:32"
"02841"	"NEM4"	"myopathy, nemaline, type 4 (NEM-4)"	"AD"	"609285"	""	""	""	"00006"	"2014-09-25 23:29:40"	"00006"	"2021-12-10 21:51:32"
"04164"	"NEM"	"myopathy, nemaline (NEM)"	""	""	""	""	""	"00006"	"2014-12-22 16:43:09"	"00006"	"2018-07-06 19:02:59"
"05126"	"LGMD"	"dystrophy, muscular, limb-girdle (LGMD)"	""	""	""	""	""	"00006"	"2016-01-26 06:05:36"	""	""
"05618"	"NMD"	"neuromuscular disorder (NMD)"	""	""	""	""	""	"00006"	"2019-07-02 19:46:12"	""	""


## Genes_To_Diseases ## Do not remove or alter this header ##
## Count = 3
"{{geneid}}"	"{{diseaseid}}"
"TPM2"	"01184"
"TPM2"	"02383"
"TPM2"	"02841"


## Individuals ## Do not remove or alter this header ##
## Count = 80
"{{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}}"
"00037255"	""	""	""	"1"	""	"01164"	""	""	""	""	"Germany"	""	"0"	""	""	""	""
"00037256"	""	""	""	"1"	""	"01164"	""	""	""	""	"Germany"	""	"0"	""	""	""	""
"00154919"	""	""	""	"1"	""	"00006"	"{PMID:Beck 2013:23401156}"	""	""	""	"United States"	""	"0"	""	""	""	"23401156-c1"
"00154920"	""	""	""	"1"	""	"00006"	"{PMID:Beck 2013:23401156}"	""	""	""	"United States"	""	"0"	""	""	""	"23401156-j1"
"00154921"	""	""	""	"1"	""	"00006"	"{PMID:Beck 2013:23401156}"	""	""	""	"United States"	""	"0"	""	""	""	"23401156-k1"
"00154922"	""	""	""	"1"	""	"00006"	"{PMID:Beck 2013:23401156}"	""	""	""	"United States"	""	"0"	""	""	""	"23401156-l1"
"00154923"	""	""	""	"1"	""	"00006"	"{PMID:Beck 2013:23401156}"	""	""	""	"United States"	""	"0"	""	""	""	"23401156-m1"
"00154924"	""	""	""	"1"	""	"00006"	"{PMID:Beck 2013:23401156}"	""	""	""	"United States"	""	"0"	""	""	""	"23401156-m2"
"00154925"	""	""	""	"1"	""	"00006"	"{PMID:Beck 2013:23401156}"	""	""	""	"United States"	""	"0"	""	""	""	"23401156-m3"
"00154926"	""	""	""	"1"	""	"00006"	"{PMID:Beck 2013:23401156}"	""	""	""	"United States"	""	"0"	""	""	""	"23401156-m4"
"00154927"	""	""	""	"1"	""	"00006"	"{PMID:Beck 2013:23401156}"	""	""	""	"United States"	""	"0"	""	""	""	"23401156-m5"
"00154928"	""	""	""	"1"	""	"00006"	"{PMID:Beck 2013:23401156}"	""	""	""	"United States"	""	"0"	""	""	""	"23401156-n1"
"00154929"	""	""	""	"1"	""	"00006"	"{PMID:Beck 2013:23401156}"	""	""	""	"United States"	""	"0"	""	""	""	"23401156-o1"
"00154930"	""	""	""	"1"	""	"00006"	"{PMID:Beck 2013:23401156}"	""	""	""	"United States"	""	"0"	""	""	""	"23401156-y1"
"00154931"	""	""	""	"1"	""	"00006"	"{PMID:Beck 2013:23401156}"	""	""	""	"United States"	""	"0"	""	""	""	"23401156-ab1"
"00213492"	""	""	""	"1"	""	"00006"	"{PMID:Ohlsson 2008:19047562}"	""	"M"	""	"Sweden"	""	"0"	""	""	""	"19047562.1"
"00213493"	""	""	""	"1"	""	"00006"	"{PMID:Clarke 2009:19345583}"	""	"F"	""	"Australia"	""	"0"	""	""	""	""
"00213494"	""	""	""	"1"	""	"00006"	"{PMID:Ohlsson 2008:19047562}"	""	"F"	""	"Sweden"	""	"0"	""	""	""	"19047562.3"
"00213495"	""	""	""	"1"	""	"00006"	"{PMID:Donner 2002:11738357}"	""	"F"	""	"Netherlands"	"51y"	"0"	""	""	""	"11738357.1"
"00213496"	""	""	""	"1"	""	"00006"	"{PMID:Brandis 2008:18789687}"	"mother of 11738357.2s"	"F"	""	"Bosnia and Herzegovina"	">45y"	"0"	""	""	""	"11738357.2m"
"00213497"	""	""	""	"1"	""	"00006"	"{PMID:Brandis 2008:18789687}"	"son of 11738357.2m"	"M"	""	"Bosnia and Herzegovina"	""	"0"	""	""	""	"11738357.2s"
"00213498"	""	""	""	"66"	""	"00006"	"{PMID:Donner 2002:11738357}"	""	""	""	""	""	"0"	""	""	""	""
"00213499"	""	""	""	"72"	""	"00006"	"{PMID:Donner 2002:11738357}"	""	""	""	""	""	"0"	""	""	""	""
"00213500"	""	""	""	"8"	""	"00006"	"{PMID:Donner 2002:11738357}"	""	""	""	""	""	"0"	""	""	""	""
"00213501"	""	""	""	"22"	""	"00006"	"{PMID:Donner 2002:11738357}"	""	""	""	""	""	"0"	""	""	""	""
"00213502"	""	""	""	"14"	""	"00006"	"{PMID:Sung 2003:12592607}"	"4 generation family, 14 affecteds"	""	""	""	""	"0"	""	""	""	""
"00213503"	""	""	""	"1"	""	"00006"	"{PMID:Tajsharghi 2007:17339586}, {PMID:Ochala 2007:17430991}"	"mother of 17339586.III1"	"F"	""	"Sweden"	">65y"	"0"	""	""	""	"17339586.II2"
"00213504"	""	""	""	"1"	""	"00006"	"{PMID:Tajsharghi 2007:17339586}, {PMID:Ochala 2007:17430991}"	"daugther of 17339586.II2"	"F"	""	"Sweden"	">28y"	"0"	""	""	""	"17339586.III1"
"00213505"	""	""	""	"1"	""	"00006"	"{PMID:Lehtokari 2007:17434307}"	""	"M"	""	""	">36y"	"0"	""	""	""	"17434307.1"
"00213506"	""	""	""	"1"	""	"00006"	"{PMID:Nilsson 2008:18422639}"	"mother of 17846275.III1"	"F"	""	"Sweden"	">66y"	"0"	""	""	""	"17846275.II2"
"00213507"	""	""	""	"1"	""	"00006"	"{PMID:Nilsson 2008:18422639}"	"daugther of 17846275.II2"	"F"	""	"Sweden"	">35y"	"0"	""	""	""	"17846275.III1"
"00213508"	""	""	""	"1"	""	"00006"	"{PMID:Ohlsson 2008:19047562}"	""	"M"	""	"Sweden"	""	"0"	""	""	""	"19047562.2"
"00213509"	""	""	""	"1"	""	"00464"	""	""	""	""	"(United States)"	""	"0"	""	""	"SE Asian"	""
"00213510"	""	""	""	"1"	""	"00464"	""	""	""	""	"United States"	""	"0"	""	""	""	""
"00213511"	""	""	""	"1"	""	"00464"	""	""	"F"	""	"United States"	""	"0"	""	""	""	""
"00213512"	""	""	""	"7"	""	"00006"	"J Goto ASHG 2010 A905"	"3-generation family, 7 affecteds, affected father proband deceased"	"M"	""	"Japan"	">64y"	"0"	""	""	""	""
"00213513"	""	""	""	"1"	""	"00464"	""	""	"F"	""	"United States"	""	"0"	""	""	""	""
"00213514"	""	""	""	"1"	""	"00464"	""	""	""	""	"United States"	""	"0"	""	""	""	""
"00213515"	""	""	""	"1"	""	"00464"	""	""	""	""	"United States"	""	"0"	""	""	""	""
"00213516"	""	""	""	"1"	""	"00464"	""	""	"F"	""	"Canada"	""	"0"	""	""	"French-Canadian"	""
"00213517"	""	""	""	"1"	""	"00464"	""	""	"M"	""	"United States"	""	"0"	""	""	""	""
"00213518"	""	""	""	"1"	""	"00464"	""	""	""	""	"United States"	""	"0"	""	""	""	""
"00213519"	""	""	""	"4"	""	"00006"	"{PMID:Monnier 2009:19155175}"	"3-generation family, 4 affecteds"	"M"	"yes"	"Algeria"	""	"0"	""	""	""	"19155175-III12"
"00213520"	""	""	""	"6"	""	"00006"	"{PMID:Monnier 2009:19155175}"	"3-generation family, 4 unaffected carrier parents and 2 sisters"	""	"yes"	"Algeria"	""	"0"	""	""	""	"19155175-Fam"
"00213521"	""	""	""	"78"	""	"00006"	"{PMID:Donner 2002:11738357}"	""	""	""	""	""	"0"	""	""	""	""
"00213522"	""	""	""	"4"	""	"00006"	"{PMID:Donner 2002:11738357}"	""	""	""	""	""	"0"	""	""	""	""
"00213523"	""	""	""	"44"	""	"00006"	"{PMID:Donner 2002:11738357}"	""	""	""	""	""	"0"	""	""	""	""
"00213524"	""	""	""	"8"	""	"00006"	"{PMID:Donner 2002:11738357}"	""	""	""	""	""	"0"	""	""	""	""
"00213525"	""	""	""	"1"	""	"00464"	""	""	""	""	"United States"	""	"0"	""	""	""	""
"00213526"	""	""	""	"1"	""	"00464"	""	""	"F"	""	"United States"	""	"0"	""	""	""	""
"00213527"	""	""	""	"1"	""	"00430"	"from website {DBsub-Emory}"	""	""	""	"(United States)"	""	"0"	""	""	""	""
"00213528"	""	""	""	"1"	""	"00430"	"from website {DBsub-Emory}"	""	""	""	"(United States)"	""	"0"	""	""	""	""
"00213529"	""	""	""	"1"	""	"00430"	"from website {DBsub-Emory}"	""	""	""	"(United States)"	""	"0"	""	""	""	""
"00213530"	""	""	""	"1"	""	"00430"	"from website {DBsub-Emory}"	""	""	""	"(United States)"	""	"0"	""	""	""	""
"00213531"	""	""	""	"1"	""	"00430"	"from website {DBsub-Emory}"	""	""	""	"(United States)"	""	"0"	""	""	""	""
"00213532"	""	""	""	"1"	""	"00430"	"from website {DBsub-Emory}"	""	""	""	"(United States)"	""	"0"	""	""	""	""
"00213533"	""	""	""	"1"	""	"00430"	"from website {DBsub-Emory}"	""	""	""	"(United States)"	""	"0"	""	""	""	""
"00213534"	""	""	""	"1"	""	"00464"	""	""	"M"	""	"United States"	""	"0"	""	""	""	""
"00213535"	""	""	""	"1"	""	"00464"	""	""	"M"	""	"United States"	""	"0"	""	""	"Hispanic"	""
"00213536"	""	""	""	"1"	""	"00542"	""	""	"F"	""	""	""	"0"	""	""	""	"Fam19"
"00213537"	""	""	""	"1"	""	"00542"	""	""	"F"	""	""	""	"0"	""	""	""	"Fam 20"
"00213538"	""	""	""	"1"	""	"00542"	""	""	"M"	""	""	""	"0"	""	""	""	"Fam1 (2693)"
"00213539"	""	""	""	"2"	""	"00542"	""	"affected mother/son"	"F"	""	""	""	"0"	""	""	""	"Fam22 (5932, 5933)"
"00213540"	""	""	""	"1"	""	"00542"	""	""	"M"	""	""	""	"0"	""	""	""	"Fam26 (20-393)"
"00213541"	""	""	""	"1"	""	"00542"	""	""	"M"	""	""	""	"0"	""	""	""	"Fam29"
"00213542"	""	""	""	"1"	""	"00542"	""	""	"F"	""	""	""	"0"	""	""	""	"Fam35 (3143)"
"00213543"	""	""	""	"1"	""	"00542"	""	""	"F"	""	""	""	"0"	""	""	""	"Fam37 (3653)"
"00213544"	""	""	""	"1"	""	"00464"	""	""	"M"	""	"United States"	""	"0"	""	""	""	""
"00213545"	""	""	""	"1"	""	"01700"	"{PMID:Clarke 2012:22832343}, {DOI:Clarke 2015:10.1016/j.nmd.2012.06.002}, {PMID:Punetha 2016:27854218}"	""	"M"	""	""	""	"0"	""	""	""	"Pat1/Pat2"
"00213546"	""	""	""	"1"	""	"00006"	"{PMID:Clarke 2012:22832343}, {DOI:Clarke 2015:10.1016/j.nmd.2012.06.002}"	"2-generation family, 1 affected, unaffected non-carreir parents"	""	"no"	""	""	"0"	""	""	"white"	"22832343-Pat2"
"00231292"	""	""	""	"1"	""	"01164"	""	""	"F"	""	""	""	"0"	""	""	""	""
"00307182"	""	""	""	"1"	""	"00534"	"{PMID:Ravenscroft 2020:33060286}, {DOI:Ravenscroft 2020:10.1136/jmedgenet-2020-106901}"	""	""	""	"Australia"	""	"0"	""	""	""	"D13-1137"
"00307221"	""	""	""	"1"	""	"00534"	"{PMID:Ravenscroft 2020:33060286}, {DOI:Ravenscroft 2020:10.1136/jmedgenet-2020-106901}"	""	""	""	"Australia"	""	"0"	""	""	""	"D17-1613"
"00307226"	""	""	""	"1"	""	"00534"	"{PMID:Ravenscroft 2020:33060286}, {DOI:Ravenscroft 2020:10.1136/jmedgenet-2020-106901}"	""	""	""	"Australia"	""	"0"	""	""	""	"D17-2016"
"00314484"	""	""	""	"1"	""	"00006"	"{PMID:Topf 2020:32528171}"	"analysis 1001 patients with unexplained limb-girdle weakness"	""	""	""	""	"0"	""	""	""	""
"00398955"	""	""	""	"1"	""	"00006"	"{PMID:Natera-de Benito 2021:33333461}"	"patient"	"F"	""	"Spain"	""	"0"	""	""	""	"Fam52Pat58"
"00399021"	""	""	""	"1"	""	"00006"	"{PMID:Gonzalez-Quereda 2020:32403337}"	"patient"	"F"	""	"Spain"	""	"0"	""	""	""	"P53"
"00419176"	""	""	""	"1"	""	"00006"	"{PMID:Gurgel-Giannetti 2022:36233295}"	""	"M"	""	"Brazil"	""	"0"	""	""	""	"Fam6Pat6"
"00419480"	""	""	""	"1"	""	"02300"	"{PMID:Marinakis 2021:34008892}"	""	"F"	""	"Greece"	""	"0"	""	""	""	"9167"
"00442699"	""	""	""	"2"	""	"00006"	"{PMID:Westra 2019:31127727}"	"family, 2 affected sisters, healthy mother mosaic (0.10-0.15)"	"F"	""	""	""	"0"	""	""	""	"Pat71"


## Individuals_To_Diseases ## Do not remove or alter this header ##
## Count = 79
"{{individualid}}"	"{{diseaseid}}"
"00037255"	"00198"
"00037256"	"00198"
"00154919"	"00385"
"00154920"	"00385"
"00154921"	"00385"
"00154922"	"00385"
"00154923"	"00385"
"00154924"	"00385"
"00154925"	"00385"
"00154926"	"00385"
"00154927"	"00385"
"00154928"	"00385"
"00154929"	"00385"
"00154930"	"00385"
"00154931"	"00385"
"00213492"	"04164"
"00213493"	"04164"
"00213494"	"04164"
"00213495"	"04164"
"00213496"	"04164"
"00213497"	"04164"
"00213498"	"00000"
"00213499"	"00000"
"00213500"	"00000"
"00213501"	"00000"
"00213502"	"00385"
"00213503"	"00385"
"00213504"	"00385"
"00213505"	"04164"
"00213506"	"04164"
"00213507"	"04164"
"00213508"	"04164"
"00213509"	"00198"
"00213510"	"00198"
"00213511"	"04164"
"00213512"	"04164"
"00213513"	"00198"
"00213514"	"00385"
"00213515"	"00385"
"00213516"	"04164"
"00213517"	"00026"
"00213518"	"00026"
"00213519"	"00198"
"00213520"	"00000"
"00213521"	"00000"
"00213522"	"00000"
"00213523"	"00000"
"00213524"	"00000"
"00213525"	"04164"
"00213526"	"01959"
"00213527"	"00198"
"00213528"	"00198"
"00213529"	"00198"
"00213530"	"00198"
"00213531"	"00198"
"00213532"	"00198"
"00213533"	"00198"
"00213534"	"00244"
"00213535"	"00385"
"00213536"	"00385"
"00213537"	"00385"
"00213538"	"04164"
"00213539"	"00244"
"00213540"	"01959"
"00213541"	"01959"
"00213542"	"04164"
"00213543"	"04164"
"00213544"	"00385"
"00213545"	"01959"
"00213546"	"01959"
"00307182"	"00385"
"00307221"	"00385"
"00307226"	"00385"
"00314484"	"05126"
"00398955"	"00244"
"00399021"	"05618"
"00419176"	"04164"
"00419480"	"00198"
"00442699"	"05618"


## Phenotypes ## Do not remove or alter this header ##
## Note: Only showing Phenotype columns active for Diseases 00000, 00026, 00198, 00244, 00385, 01184, 01959, 02383, 02841, 04164, 05126, 05618
## Count = 70
"{{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}}"
"0000127655"	"00385"	"00154919"	"00006"	"Isolated (sporadic)"	""	""	""	""	""	""	""	""	""	""	"DA-2B"	""	""
"0000127656"	"00385"	"00154920"	"00006"	"Isolated (sporadic)"	""	""	""	""	""	""	""	""	""	""	"DA-1"	""	""
"0000127657"	"00385"	"00154921"	"00006"	"Isolated (sporadic)"	""	""	""	""	""	""	""	""	""	""	"DA-2B"	""	""
"0000127658"	"00385"	"00154922"	"00006"	"Familial, autosomal dominant"	""	""	""	""	""	""	""	""	""	""	"DA-2B"	""	""
"0000127659"	"00385"	"00154923"	"00006"	"Familial, autosomal dominant"	""	""	""	""	""	""	""	""	""	""	"DA-2B"	""	""
"0000127660"	"00385"	"00154924"	"00006"	"Familial, autosomal dominant"	""	""	""	""	""	""	""	""	""	""	"DA-2B"	""	""
"0000127661"	"00385"	"00154925"	"00006"	"Familial, autosomal dominant"	""	""	""	""	""	""	""	""	""	""	"DA-2B"	""	""
"0000127662"	"00385"	"00154926"	"00006"	"Familial, autosomal dominant"	""	""	""	""	""	""	""	""	""	""	"DA-2B"	""	""
"0000127663"	"00385"	"00154927"	"00006"	"Familial, autosomal dominant"	""	""	""	""	""	""	""	""	""	""	"DA-1"	""	""
"0000127664"	"00385"	"00154928"	"00006"	"Familial, autosomal dominant"	""	""	""	""	""	""	""	""	""	""	"DA-2B"	""	""
"0000127665"	"00385"	"00154929"	"00006"	"Isolated (sporadic)"	""	""	""	""	""	""	""	""	""	""	"DA-2B"	""	""
"0000127666"	"00385"	"00154930"	"00006"	"Familial, autosomal dominant"	""	""	""	""	""	""	""	""	""	""	"DA-2B"	""	""
"0000127667"	"00385"	"00154931"	"00006"	"Isolated (sporadic)"	""	""	""	""	""	""	""	""	""	""	"DA-2B"	""	""
"0000156857"	"00198"	"00037255"	"01164"	"Unknown"	""	"suspected Nemaline Myopathie, hypotonia, developmental delay"	""	""	""	""	""	""	""	""	""	"nemaline myopathy?"	""
"0000156858"	"00198"	"00037256"	"01164"	"Unknown"	""	"suspected Nemaline Myopathie, hypotonia, developmental delay"	""	""	""	""	""	""	""	""	""	"nemaline myopathy?"	""
"0000161955"	"04164"	"00213492"	"00006"	"Isolated (sporadic)"	""	"CAP disease"	"8m"	""	""	""	""	""	""	""	"NEM-4"	"nemaline myopathy"	""
"0000161956"	"04164"	"00213493"	"00006"	"Isolated (sporadic)"	""	"CAP disease; congenital fibre type disproportion; walk-18m"	"10y"	""	""	""	""	""	""	""	"NEM-4"	"nemaline myopathy"	""
"0000161957"	"04164"	"00213494"	"00006"	"Isolated (sporadic)"	""	"CAP disease"	""	""	""	""	""	""	""	""	"NEM-4"	"nemaline myopathy"	""
"0000161958"	"04164"	"00213495"	"00006"	"Isolated (sporadic)"	""	"mild form, asymmetric limb muscle involvement, mild facial and neck flexor weakness; deceased from respiratory causes; wheelchair bound 48y"	"12y"	""	"walking difficulty"	""	""	""	""	""	"NEM-4"	"nemaline myopathy"	""
"0000161959"	"04164"	"00213496"	"00006"	"Isolated (sporadic)"	""	"myopathic facies, high-arched palate, weak neck flexors, assymetric limb involvement; never run"	""	""	""	""	""	""	""	""	"NEM-4"	"nemaline myopathy"	""
"0000161960"	"04164"	"00213497"	"00006"	"Familial"	""	"were very weak (Fig. 6). Her limb involvement was asymmetric; delayed; walk"	"4y"	""	"feeding difficulties"	""	""	""	""	""	"NEM-4"	"nemaline myopathy"	""
"0000161961"	"00385"	"00213502"	"00006"	"Familial, autosomal dominant"	""	""	""	""	""	""	""	""	""	""	"DA-1"	"distal arthrogryposis"	""
"0000161962"	"00385"	"00213503"	"00006"	"Isolated (sporadic)"	""	"distal joint contractures at birth, progressive muscle weakness proximal and distal muscles"	""	""	""	""	""	""	""	""	"DA-2B"	"distal arthrogryposis"	""
"0000161963"	"00385"	"00213504"	"00006"	"Familial"	""	"distal joint contractures at birth, muscle weakness proximal and distal muscles"	""	""	""	""	""	""	""	""	"DA-2B"	"distal arthrogryposis"	""
"0000161964"	"04164"	"00213505"	"00006"	"Isolated (sporadic)"	""	"CAP disease; congenital muscle weakness, myopathic facies, dysarthria, hyperlordosis, hypotonia; 33y acute respiratory insufficiency, hypoventilation, nosocomial pneumonia; walk-24m"	""	""	""	""	""	""	""	""	"NEM-4"	"nemaline myopathy"	""
"0000161965"	"04164"	"00213506"	"00006"	"Isolated (sporadic)"	""	"neonatal respiratory insufficiency; progressive muscle weakness, muscle weakness predominantly proximal muscles, neck flexors, facial muscles, foot extensors"	""	""	""	""	""	""	""	""	"NEM-4"	"nemaline myopathy"	""
"0000161966"	"04164"	"00213507"	"00006"	"Familial"	""	"CAP disease; neonatal hypotonia, feeding difficulties poor sucking; moderate muscle weakness predominant proximal muscles, neck flexors, facial muscles; facial diplegia with bilateral ptosis"	""	""	""	""	""	""	""	""	"NEM-4"	"nemaline myopathy"	""
"0000161967"	"04164"	"00213508"	"00006"	"Isolated (sporadic)"	""	"CAP disease"	""	""	""	""	""	""	""	""	"NEM-4"	"nemaline myopathy"	""
"0000161968"	"00198"	"00213509"	"00464"	"Unknown"	""	"arthrogryposis"	""	""	""	""	""	""	""	""	""	"AMC"	""
"0000161969"	"00198"	"00213510"	"00464"	"Unknown"	""	""	""	""	""	""	""	""	""	""	""	"AMC"	""
"0000161970"	"04164"	"00213511"	"00464"	"Unknown"	""	""	""	""	""	""	""	""	""	""	"NEM-4"	"nemaline myopathy"	""
"0000161971"	"04164"	"00213512"	"00006"	"Familial, autosomal dominant"	""	"slowly progressive proximal muscle atrophy, weakness, dysphagia, rigid spine, dilated cardiomyopathy, type 2 repiratory failure"	""	""	""	""	""	""	""	""	"NEM-4"	"nemaline myopathy"	""
"0000161972"	"00198"	"00213513"	"00464"	"Unknown"	""	""	""	""	""	""	""	""	""	""	""	"AMC"	""
"0000161973"	"00385"	"00213514"	"00464"	"Unknown"	""	""	""	""	""	""	""	""	""	""	""	"distal arthrogryposis"	""
"0000161974"	"00385"	"00213515"	"00464"	"Isolated (sporadic)"	""	""	""	""	""	""	""	""	""	""	""	"distal arthrogryposis"	""
"0000161975"	"04164"	"00213516"	"00464"	"Unknown"	""	"rods seen in muscle biopsy; CPK  540"	""	""	""	""	""	""	""	""	"NEM-4"	"nemaline myopathy"	""
"0000161976"	"00026"	"00213517"	"00464"	"Unknown"	""	""	""	""	""	""	""	""	""	""	""	"arthrogryposis"	""
"0000161977"	"00026"	"00213518"	"00464"	"Unknown"	""	""	""	""	""	""	""	""	""	""	""	"arthrogryposis"	""
"0000161978"	"00198"	"00213519"	"00006"	"Familial, autosomal recessive"	""	"major hypotonia, distal amyotrophy, delayed motor milestones, scoliosis, pes varus, contractures proximal/distal joint, no head/sitting control, multiple pterygia affecting neck, axilla and antecubital/popliteal area; convergent squint, ptosis and cryptorchidism"	"0d"	""	"hypotonia, arthrogryposis"	""	""	""	""	""	""	"Escobar syndrome (EVMPS)"	""
"0000161979"	"04164"	"00213525"	"00464"	"Isolated (sporadic)"	""	""	""	""	""	""	""	""	""	""	"NEM-4"	"nemaline myopathy"	""
"0000161980"	"01959"	"00213526"	"00464"	"Unknown"	""	"hypotonia, difficulty swallowing, ptosis, contractures, scoliosis."	""	""	""	""	""	""	""	""	"CFTD"	"myopathy, congenital, with fiber-type disproportion"	""
"0000161981"	"00198"	"00213527"	"00430"	"Unknown"	""	""	""	""	""	""	""	""	""	""	""	""	""
"0000161982"	"00198"	"00213528"	"00430"	"Unknown"	""	""	""	""	""	""	""	""	""	""	""	""	""
"0000161983"	"00198"	"00213529"	"00430"	"Unknown"	""	""	""	""	""	""	""	""	""	""	""	""	""
"0000161984"	"00198"	"00213530"	"00430"	"Unknown"	""	""	""	""	""	""	""	""	""	""	""	""	""
"0000161985"	"00198"	"00213531"	"00430"	"Unknown"	""	""	""	""	""	""	""	""	""	""	""	""	""
"0000161986"	"00198"	"00213532"	"00430"	"Unknown"	""	""	""	""	""	""	""	""	""	""	""	""	""
"0000161987"	"00198"	"00213533"	"00430"	"Unknown"	""	""	""	""	""	""	""	""	""	""	""	""	""
"0000161988"	"00244"	"00213534"	"00464"	"Unknown"	""	"mild proximal weakness, difuse hypotonia, abnormal gait"	""	""	""	""	""	""	""	""	""	"congenital myopathy"	""
"0000161989"	"00385"	"00213535"	"00464"	"Familial, autosomal dominant"	""	"distal contractures, rocker-bottom feet"	""	""	""	""	""	""	""	""	"DA"	"distal arthrogryposis"	""
"0000161990"	"00385"	"00213536"	"00542"	"Familial, autosomal dominant"	""	"distal arthrogryposis with congenital contractures of ankles, fingers, and thumbs, tethered spinal cord, vertebral segmentation anomaly, dysmorphic facial features; 13m unable raise arms above shoulder"	"1d"	""	""	""	""	""	""	""	""	"athrogryposis, distal; myopathy, congenital"	""
"0000161991"	"00385"	"00213537"	"00542"	"Familial, autosomal dominant"	""	"hypotonia, joint contractures, and bilateral club foot (at birth); ; cannot walk without support"	""	""	""	""	""	""	""	""	""	"distal arthrogryposis"	""
"0000161992"	"04164"	"00213538"	"00542"	"Familial, autosomal dominant"	""	"proximal muscle weakness with onset subsequent to diagnosis of hypothyroidism (66y); ; wheelchair bound >70y"	""	""	""	""	""	""	""	""	"NEM-4"	"nemaline myopathy"	""
"0000161993"	"00244"	"00213539"	"00542"	"Familial, autosomal dominant"	""	"myopathicfacies, high-arched palate, neck flexors very weak, limb involvement asymmetric; never run"	"1d"	""	""	""	""	""	""	""	""	"myopathy, congenital; congenital fibre type disproportion"	""
"0000161994"	"01959"	"00213540"	"00542"	"Familial, autosomal dominant"	""	"scoliosis, mild weakness of neck flexors, deltoids, finger extensors of hands, minimal contractures of fingers and Achilles tendons; walk-2y"	"1d"	""	"hypotonia"	""	""	""	""	""	"CFTD"	"congenital fibre type disproportion"	""
"0000161995"	"01959"	"00213541"	"00542"	"Familial, autosomal dominant"	""	"facial weakness, high-arched palate"	"1d"	""	"severe hypotonia, respiratory failure"	""	""	""	""	""	"CFTD"	"congenital fibre type disproportion"	""
"0000161996"	"04164"	"00213542"	"00542"	"Familial, autosomal dominant"	""	"distal weakness lowerlimbs; wheelchair bound >40y"	""	""	""	""	""	""	""	""	"NEM-4"	"nemaline myopathy"	""
"0000161997"	"04164"	"00213543"	"00542"	"Familial, autosomal dominant"	""	"proximal muscles weaker than distal, Achilles contractures, ambulant with waddling gait (58y); wheelchair bound >58y"	"44y"	""	"muscle weakness  subsequent to infection"	""	""	""	""	""	"NEM-4"	"nemaline myopathy"	""
"0000161998"	"00385"	"00213544"	"00464"	"Unknown"	""	"contractures of lower joints"	""	""	""	""	""	""	""	""	""	"distal arthrogryposis"	""
"0000161999"	"01959"	"00213545"	"01700"	"Isolated (sporadic)"	""	"see paper; ...; CPK normal"	"0d"	""	""	""	""	""	""	""	"CFTD"	"congenital fibre type disproportion"	""
"0000162000"	"01959"	"00213546"	"00006"	"Isolated (sporadic)"	""	"see paper; ..."	"<0d"	""	"reduced fetal movement"	""	""	""	""	""	"CFTD"	"myopathy, congenital, with fiber-type disproportion"	""
"0000173731"	"00198"	"00231292"	"01164"	"Unknown"	""	"HP:0100022 (Abnormality of movement); HP:0012638 (Abnormality of nervous system physiology); HP:0001337 (Tremor); HP:0002169 (Clonus); HP:0040081 (Abnormal levels of creatine kinase in blood)"	""	""	""	""	""	""	""	""	""	""	""
"0000232987"	"00385"	"00307182"	"00534"	"Familial, autosomal dominant"	""	"arthrogryposis multiplex congenita; autosomal dominant inheritance"	""	""	""	""	""	""	""	""	""	"distal arthrogryposis"	""
"0000233026"	"00385"	"00307221"	"00534"	"Unknown"	""	"distal arthrogryposis"	""	""	""	""	""	""	""	""	""	"distal arthrogryposis"	""
"0000233031"	"00385"	"00307226"	"00534"	"Familial, autosomal dominant"	""	"congenital onset; wrist flexion contracture; elbow flexion contracture; knee flexion contracture; rocker bottom foot"	""	""	""	""	""	""	""	""	""	"distal arthrogryposis"	""
"0000292044"	"00244"	"00398955"	"00006"	"Familial, autosomal dominant"	"20y"	"motor delay; 2y-walk, run; no ptosis; no ophthalmoplegia; facial weakness; flexor weakness; no proximal weaksness, no distal weakness; 17y-nocturnal noninvasive ventilation; scoliosis (17y-surgery); 27y-no cardiac involvement"	"1y"	""	"motor delay"	""	""	""	""	""	""	"congenital myopathy"	""
"0000292109"	"05618"	"00399021"	"00006"	"Unknown"	""	"muscle biopsy congenital fiber type disproportion"	"1d"	""	""	""	""	""	""	""	""	"neuromuscular disorder"	""
"0000310464"	"04164"	"00419176"	"00006"	"Unknown"	"13y"	""	""	""	""	""	""	""	""	""	"NEM4"	"nemaline myopathy"	""
"0000310761"	"00198"	"00419480"	"02300"	"Isolated (sporadic)"	"17y"	"myopathy, hypermobility, joint contractures, scoliosis"	""	""	""	""	""	""	""	""	""	"neuromuscular abnormality"	""
"0000332046"	"05618"	"00442699"	"00006"	"Familial, autosomal dominant"	"25y"	"Proximal myopathy with intermittent ptosis; increase in fiber size variation"	"1y"	""	""	""	""	""	""	""	""	"Congenital fiber type disproportion"	""


## Screenings ## Do not remove or alter this header ##
## Count = 80
"{{id}}"	"{{individualid}}"	"{{variants_found}}"	"{{owned_by}}"	"{{created_by}}"	"{{created_date}}"	"{{edited_by}}"	"{{edited_date}}"	"{{Screening/Technique}}"	"{{Screening/Template}}"	"{{Screening/Tissue}}"	"{{Screening/Remarks}}"
"0000037325"	"00037255"	"1"	"01164"	"00008"	"2015-04-02 13:01:39"	""	""	"SEQ"	"DNA"	""	""
"0000037326"	"00037256"	"1"	"01164"	"00008"	"2015-04-02 13:01:39"	""	""	"SEQ"	"DNA"	""	""
"0000155777"	"00154919"	"1"	"00006"	"00006"	"2018-03-03 11:50:47"	""	""	"SEQ"	"DNA"	""	""
"0000155778"	"00154920"	"1"	"00006"	"00006"	"2018-03-03 11:50:47"	""	""	"SEQ"	"DNA"	""	""
"0000155779"	"00154921"	"1"	"00006"	"00006"	"2018-03-03 11:50:47"	""	""	"SEQ"	"DNA"	""	""
"0000155780"	"00154922"	"1"	"00006"	"00006"	"2018-03-03 11:50:47"	""	""	"SEQ"	"DNA"	""	""
"0000155781"	"00154923"	"1"	"00006"	"00006"	"2018-03-03 11:50:47"	""	""	"SEQ"	"DNA"	""	""
"0000155782"	"00154924"	"1"	"00006"	"00006"	"2018-03-03 11:50:47"	""	""	"SEQ"	"DNA"	""	""
"0000155783"	"00154925"	"1"	"00006"	"00006"	"2018-03-03 11:50:47"	""	""	"SEQ"	"DNA"	""	""
"0000155784"	"00154926"	"1"	"00006"	"00006"	"2018-03-03 11:50:47"	""	""	"SEQ"	"DNA"	""	""
"0000155785"	"00154927"	"1"	"00006"	"00006"	"2018-03-03 11:50:47"	""	""	"SEQ"	"DNA"	""	""
"0000155786"	"00154928"	"1"	"00006"	"00006"	"2018-03-03 11:50:47"	""	""	"SEQ"	"DNA"	""	""
"0000155787"	"00154929"	"1"	"00006"	"00006"	"2018-03-03 11:50:47"	""	""	"SEQ"	"DNA"	""	""
"0000155788"	"00154930"	"1"	"00006"	"00006"	"2018-03-03 11:50:47"	""	""	"SEQ"	"DNA"	""	""
"0000155789"	"00154931"	"1"	"00006"	"00006"	"2018-03-03 11:50:47"	""	""	"SEQ"	"DNA"	""	""
"0000214562"	"00213492"	"1"	"00006"	"00006"	"2008-09-27 18:47:51"	"00006"	"2012-03-09 19:17:22"	"SEQ"	"DNA"	""	""
"0000214563"	"00213493"	"1"	"00006"	"00006"	"2008-09-27 18:47:51"	"00006"	"2012-03-09 19:17:22"	"SEQ"	"DNA"	""	""
"0000214564"	"00213494"	"1"	"00006"	"00006"	"2008-09-27 18:47:51"	"00006"	"2012-03-09 19:17:22"	"SEQ"	"DNA"	""	""
"0000214565"	"00213495"	"1"	"00006"	"00006"	"2008-09-27 18:44:57"	"00006"	"2012-03-09 19:17:22"	"SEQ;SSCA"	"DNA"	""	""
"0000214566"	"00213496"	"1"	"00006"	"00006"	"2008-09-27 18:44:57"	"00006"	"2012-03-09 19:17:22"	"SEQ;SSCA"	"DNA"	""	""
"0000214567"	"00213497"	"1"	"00006"	"00006"	"2008-09-27 18:44:57"	"00006"	"2012-03-04 15:57:58"	"SEQ;SSCA"	"DNA"	""	""
"0000214568"	"00213498"	"1"	"00006"	"00006"	"2008-09-27 18:44:57"	"00006"	"2012-03-30 19:15:14"	"SEQ;SSCA"	"DNA"	""	""
"0000214569"	"00213499"	"1"	"00006"	"00006"	"2008-09-27 18:44:57"	"00006"	"2012-03-30 19:56:23"	"SEQ;SSCA"	"DNA"	""	""
"0000214570"	"00213500"	"1"	"00006"	"00006"	"2008-09-27 18:44:57"	"00006"	"2012-03-30 19:42:19"	"SEQ;SSCA"	"DNA"	""	""
"0000214571"	"00213501"	"1"	"00006"	"00006"	"2008-09-27 18:44:57"	"00006"	"2012-03-30 18:55:04"	"SEQ;SSCA"	"DNA"	""	""
"0000214572"	"00213502"	"1"	"00006"	"00006"	"2008-09-27 18:44:57"	"00006"	"2012-03-30 14:11:40"	"SEQ"	"DNA"	""	""
"0000214573"	"00213503"	"1"	"00006"	"00006"	"2008-09-27 18:44:58"	"00006"	"2012-03-30 16:33:26"	"SEQ"	"DNA"	""	""
"0000214574"	"00213504"	"1"	"00006"	"00006"	"2008-09-27 18:44:58"	"00006"	"2012-03-30 16:34:03"	"SEQ"	"DNA"	""	""
"0000214575"	"00213505"	"1"	"00006"	"00006"	"2008-09-27 18:47:51"	"00006"	"2012-03-09 19:08:25"	"SEQ"	"DNA"	""	""
"0000214576"	"00213506"	"1"	"00006"	"00006"	"2008-09-27 18:47:51"	"00006"	"2012-03-30 16:39:04"	"SEQ"	"DNA"	""	""
"0000214577"	"00213507"	"1"	"00006"	"00006"	"2008-09-27 18:47:51"	"00006"	"2012-03-30 16:41:02"	"SEQ"	"DNA"	""	""
"0000214578"	"00213508"	"1"	"00006"	"00006"	"2008-09-27 18:47:51"	"00006"	"2012-03-09 19:17:22"	"SEQ"	"DNA"	""	""
"0000214579"	"00213509"	"1"	"00464"	"00006"	"2010-02-05 23:06:28"	"00006"	"2013-02-01 19:44:13"	"PCR;SEQ"	"DNA"	""	""
"0000214580"	"00213510"	"1"	"00464"	"00006"	"2010-07-06 18:17:37"	"00006"	"2013-02-01 19:44:13"	"PCR;SEQ"	"DNA"	""	""
"0000214581"	"00213511"	"1"	"00464"	"00006"	"2010-10-15 21:59:21"	"00006"	"2013-02-01 19:44:13"	"PCR;SEQ"	"DNA"	""	""
"0000214582"	"00213512"	"1"	"00006"	"00006"	"2010-11-10 22:57:39"	"00006"	"2012-03-04 15:57:58"	"SEQ"	"DNA"	""	""
"0000214583"	"00213513"	"1"	"00464"	"00006"	"2010-11-23 21:29:25"	"00006"	"2013-02-01 19:44:13"	"PCR;SEQ"	"DNA"	""	""
"0000214584"	"00213514"	"1"	"00464"	"00006"	"2011-04-18 20:41:43"	"00006"	"2013-02-01 19:44:13"	"PCR;SEQ"	"DNA"	""	""
"0000214585"	"00213515"	"1"	"00464"	"00006"	"2011-04-18 21:52:52"	"00006"	"2012-03-09 19:12:55"	"PCR;SEQ"	"DNA"	""	""
"0000214586"	"00213516"	"1"	"00464"	"00006"	"2011-09-02 22:09:14"	"00006"	"2013-02-01 19:44:13"	"PCR;SEQ"	"DNA"	""	""
"0000214587"	"00213517"	"1"	"00464"	"00006"	"2011-09-02 22:11:30"	"00006"	"2013-02-01 19:44:13"	"PCR;SEQ"	"DNA"	""	""
"0000214588"	"00213518"	"1"	"00464"	"00006"	"2012-02-21 23:18:11"	"00006"	"2013-02-01 19:44:13"	"PCR;SEQ"	"DNA"	""	""
"0000214589"	"00213519"	"1"	"00006"	"00006"	"2012-03-30 17:35:31"	"00006"	"2012-03-30 17:36:23"	"RT-PCR;SEQ"	"DNA;RNA"	""	""
"0000214590"	"00213520"	"1"	"00006"	"00006"	"2012-03-30 17:35:31"	""	""	"RT-PCR;SEQ"	"DNA;RNA"	""	""
"0000214591"	"00213521"	"1"	"00006"	"00006"	"2012-03-30 20:03:11"	""	""	"SEQ;SSCA"	"DNA"	""	""
"0000214592"	"00213522"	"1"	"00006"	"00006"	"2012-03-30 20:03:11"	"00006"	"2012-03-30 20:04:32"	"SEQ;SSCA"	"DNA"	""	""
"0000214593"	"00213523"	"1"	"00006"	"00006"	"2012-03-30 20:03:11"	""	""	"SEQ;SSCA"	"DNA"	""	""
"0000214594"	"00213524"	"1"	"00006"	"00006"	"2012-03-30 20:03:11"	""	""	"SEQ;SSCA"	"DNA"	""	""
"0000214595"	"00213525"	"1"	"00464"	"00006"	"2012-08-30 20:06:36"	""	""	"PCR;SEQ"	"DNA"	""	""
"0000214596"	"00213526"	"1"	"00464"	"00006"	"2012-10-19 15:43:14"	""	""	"PCR;SEQ"	"DNA"	""	""
"0000214597"	"00213527"	"1"	"00430"	"00006"	"2012-10-26 15:30:12"	""	""	"SEQ"	"DNA"	""	""
"0000214598"	"00213528"	"1"	"00430"	"00006"	"2012-10-26 15:30:12"	""	""	"SEQ"	"DNA"	""	""
"0000214599"	"00213529"	"1"	"00430"	"00006"	"2012-10-26 15:30:12"	""	""	"SEQ"	"DNA"	""	""
"0000214600"	"00213530"	"1"	"00430"	"00006"	"2012-10-26 15:30:12"	""	""	"SEQ"	"DNA"	""	""
"0000214601"	"00213531"	"1"	"00430"	"00006"	"2012-10-26 15:30:12"	""	""	"SEQ"	"DNA"	""	""
"0000214602"	"00213532"	"1"	"00430"	"00006"	"2012-10-26 15:30:12"	""	""	"SEQ"	"DNA"	""	""
"0000214603"	"00213533"	"1"	"00430"	"00006"	"2012-10-26 15:30:12"	""	""	"SEQ"	"DNA"	""	""
"0000214604"	"00213534"	"1"	"00464"	"00006"	"2013-01-15 21:19:12"	"00006"	"2013-01-17 21:10:36"	"PCR;SEQ"	"DNA"	""	""
"0000214605"	"00213535"	"1"	"00464"	"00006"	"2013-04-25 20:55:20"	""	""	"PCR;SEQ"	"DNA"	""	""
"0000214606"	"00213536"	"1"	"00542"	"00006"	"2013-08-28 11:13:14"	"00006"	"2013-08-31 16:23:45"	"SEQ"	"DNA"	""	""
"0000214607"	"00213537"	"1"	"00542"	"00006"	"2013-08-28 11:29:56"	"00006"	"2013-08-31 16:16:18"	"SEQ"	"DNA"	""	""
"0000214608"	"00213538"	"1"	"00542"	"00006"	"2013-08-28 11:36:22"	"00006"	"2013-08-31 16:19:14"	"SEQ"	"DNA"	""	""
"0000214609"	"00213539"	"1"	"00542"	"00006"	"2013-08-28 11:51:46"	"00006"	"2013-08-31 16:26:17"	"SEQ"	"DNA"	""	""
"0000214610"	"00213540"	"1"	"00542"	"00006"	"2013-08-28 11:58:56"	"00006"	"2013-08-31 16:30:00"	"SEQ"	"DNA"	""	""
"0000214611"	"00213541"	"1"	"00542"	"00006"	"2013-08-28 12:08:19"	"00006"	"2013-08-31 16:33:35"	"SEQ"	"DNA"	""	""
"0000214612"	"00213542"	"1"	"00542"	"00006"	"2013-08-28 12:28:19"	"00006"	"2013-08-31 16:36:37"	"SEQ"	"DNA"	""	""
"0000214613"	"00213543"	"1"	"00542"	"00006"	"2013-08-28 12:54:26"	"00006"	"2013-08-31 16:39:48"	"SEQ"	"DNA"	""	""
"0000214614"	"00213544"	"1"	"00464"	"00006"	"2014-09-30 19:43:37"	"00006"	"2014-10-11 13:48:18"	"PCR;SEQ"	"DNA"	""	""
"0000214615"	"00213545"	"1"	"01700"	"00006"	"2015-12-10 00:53:58"	"00006"	"2015-12-13 09:50:46"	"SEQ-NG-I"	"DNA"	""	""
"0000214616"	"00213546"	"1"	"00006"	"00006"	"2015-12-14 00:26:52"	""	""	"SEQ"	"DNA"	""	""
"0000232391"	"00231292"	"1"	"01164"	"01164"	"2019-04-29 09:50:46"	""	""	"SEQ-NG"	"DNA"	""	""
"0000308324"	"00307182"	"1"	"00534"	"00006"	"2020-08-05 17:01:04"	""	""	"SEQ"	"DNA"	""	""
"0000308363"	"00307221"	"1"	"00534"	"00006"	"2020-08-05 17:01:04"	""	""	"SEQ"	"DNA"	""	""
"0000308368"	"00307226"	"1"	"00534"	"00006"	"2020-08-05 17:01:04"	""	""	"SEQ"	"DNA"	""	""
"0000315657"	"00314484"	"1"	"00006"	"00006"	"2020-10-12 14:24:44"	""	""	"SEQ;SEQ-NG"	"DNA"	""	"WES"
"0000400200"	"00398955"	"1"	"00006"	"00006"	"2022-01-14 16:20:15"	""	""	"SEQ;SEQ-NG"	"DNA"	""	"gene or gene panel"
"0000400266"	"00399021"	"1"	"00006"	"00006"	"2022-01-15 16:40:49"	""	""	"SEQ;SEQ-NG"	"DNA"	""	"166-gene panel"
"0000420476"	"00419176"	"1"	"00006"	"00006"	"2022-10-17 13:56:55"	""	""	"SEQ"	"DNA"	""	""
"0000420784"	"00419480"	"1"	"02300"	"00006"	"2022-10-20 16:24:48"	""	""	"SEQ;SEQ-NG"	"DNA"	""	"clinical exome sequencing"
"0000444183"	"00442699"	"1"	"00006"	"00006"	"2023-11-23 18:48:51"	""	""	"SEQ;SEQ-NG"	"DNA"	""	"WES"


## Screenings_To_Genes ## Do not remove or alter this header ##
## Count = 75
"{{screeningid}}"	"{{geneid}}"
"0000037325"	"TPM2"
"0000037326"	"TPM2"
"0000155777"	"TPM2"
"0000155778"	"TPM2"
"0000155779"	"TPM2"
"0000155780"	"TPM2"
"0000155781"	"TPM2"
"0000155782"	"TPM2"
"0000155783"	"TPM2"
"0000155784"	"TPM2"
"0000155785"	"TPM2"
"0000155786"	"TPM2"
"0000155787"	"TPM2"
"0000155788"	"TPM2"
"0000155789"	"TPM2"
"0000214562"	"TPM2"
"0000214563"	"TPM2"
"0000214564"	"TPM2"
"0000214565"	"TPM2"
"0000214566"	"TPM2"
"0000214567"	"TPM2"
"0000214568"	"TPM2"
"0000214569"	"TPM2"
"0000214570"	"TPM2"
"0000214571"	"TPM2"
"0000214572"	"TPM2"
"0000214573"	"TPM2"
"0000214574"	"TPM2"
"0000214575"	"TPM2"
"0000214576"	"TPM2"
"0000214577"	"TPM2"
"0000214578"	"TPM2"
"0000214579"	"TPM2"
"0000214580"	"TPM2"
"0000214581"	"TPM2"
"0000214582"	"TPM2"
"0000214583"	"TPM2"
"0000214584"	"TPM2"
"0000214585"	"TPM2"
"0000214586"	"TPM2"
"0000214587"	"TPM2"
"0000214588"	"TPM2"
"0000214589"	"TPM2"
"0000214590"	"TPM2"
"0000214591"	"TPM2"
"0000214592"	"TPM2"
"0000214593"	"TPM2"
"0000214594"	"TPM2"
"0000214595"	"TPM2"
"0000214596"	"TPM2"
"0000214597"	"TPM2"
"0000214598"	"TPM2"
"0000214599"	"TPM2"
"0000214600"	"TPM2"
"0000214601"	"TPM2"
"0000214602"	"TPM2"
"0000214603"	"TPM2"
"0000214604"	"TPM2"
"0000214605"	"TPM2"
"0000214606"	"TPM2"
"0000214607"	"TPM2"
"0000214608"	"TPM2"
"0000214609"	"TPM2"
"0000214610"	"TPM2"
"0000214611"	"TPM2"
"0000214612"	"TPM2"
"0000214613"	"TPM2"
"0000214614"	"TPM2"
"0000214615"	"TPM2"
"0000214616"	"TPM2"
"0000308324"	"TPM2"
"0000308363"	"TPM2"
"0000308368"	"TPM2"
"0000315657"	"TPM2"
"0000420476"	"TPM2"


## 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 = 125
"{{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}}"
"0000064450"	"1"	"10"	"9"	"35690102"	"35690102"	"subst"	"0"	"01164"	"TPM2_000044"	"g.35690102A>G"	""	""	""	""	""	"Germline"	""	"rs1056747"	"0"	""	""	"g.35690105A>G"	""	"benign"	""
"0000064451"	"1"	"10"	"9"	"35684830"	"35684830"	"dup"	"0"	"01164"	"TPM2_000045"	"g.35684830dup"	""	""	""	""	""	"Germline"	""	"rs11441526"	"0"	""	""	"g.35684833dup"	""	"benign"	""
"0000250557"	"0"	"50"	"9"	"35685501"	"35685501"	"subst"	"8.12163E-6"	"02329"	"TPM2_000054"	"g.35685501A>G"	""	""	""	"TPM2(NM_001301227.1):c.422T>C (p.M141T)"	"VKGL data sharing initiative Nederland"	"CLASSIFICATION record"	""	""	"0"	""	""	"g.35685504A>G"	""	"VUS"	""
"0000309412"	"0"	"10"	"9"	"35683148"	"35683148"	"subst"	"0.0761797"	"02330"	"TPM2_000006"	"g.35683148C>T"	""	""	""	"TPM2(NM_001301227.2):c.*8G>A, TPM2(NM_003289.3):c.*8G>A"	"VKGL data sharing initiative Nederland"	"CLASSIFICATION record"	""	""	"0"	""	""	"g.35683151C>T"	""	"benign"	""
"0000309413"	"0"	"70"	"9"	"35685460"	"35685460"	"subst"	"0"	"02330"	"TPM2_000053"	"g.35685460C>T"	""	""	""	"TPM2(NM_001301227.2):c.463G>A (p.A155T)"	"VKGL data sharing initiative Nederland"	"CLASSIFICATION record"	""	""	"0"	""	""	"g.35685463C>T"	""	"likely pathogenic"	""
"0000309415"	"0"	"50"	"9"	"35689748"	"35689748"	"subst"	"0"	"02330"	"TPM2_000055"	"g.35689748C>T"	""	""	""	"TPM2(NM_001301227.2):c.67G>A (p.E23K)"	"VKGL data sharing initiative Nederland"	"CLASSIFICATION record"	""	""	"0"	""	""	"g.35689751C>T"	""	"VUS"	""
"0000309416"	"0"	"10"	"9"	"35683248"	"35683248"	"dup"	"0"	"02330"	"TPM2_000004"	"g.35683248dup"	""	""	""	"TPM2(NM_001301227.2):c.773-3dupC, TPM2(NM_003289.3):c.773-3dupC, TPM2(NM_003289.4):c.773-3dupC"	"VKGL data sharing initiative Nederland"	"CLASSIFICATION record"	""	""	"0"	""	""	"g.35683251dup"	""	"benign"	""
"0000309417"	"0"	"10"	"9"	"35683247"	"35683248"	"dup"	"0"	"02330"	"TPM2_000047"	"g.35683247_35683248dup"	""	""	""	"TPM2(NM_003289.3):c.773-4_773-3dupCC, TPM2(NM_003289.4):c.773-4_773-3dup, TPM2(NM_003289.4):c.773-4_773-3dupCC"	"VKGL data sharing initiative Nederland"	"CLASSIFICATION record"	""	""	"0"	""	""	"g.35683250_35683251dup"	""	"benign"	""
"0000312001"	"0"	"10"	"9"	"35683248"	"35683248"	"dup"	"0"	"02325"	"TPM2_000046"	"g.35683248dup"	""	""	""	"TPM2(NM_001301227.2):c.773-3dupC, TPM2(NM_003289.3):c.773-3dupC, TPM2(NM_003289.4):c.773-3dupC"	"VKGL data sharing initiative Nederland"	"CLASSIFICATION record"	""	""	"0"	""	""	"g.35683251dup"	""	"benign"	""
"0000313485"	"0"	"70"	"9"	"35685270"	"35685270"	"subst"	"0"	"02329"	"TPM2_000052"	"g.35685270C>T"	""	""	""	"TPM2(NM_003289.4):c.559G>A (p.E187K)"	"VKGL data sharing initiative Nederland"	"CLASSIFICATION record"	""	""	"0"	""	""	"g.35685273C>T"	""	"likely pathogenic"	""
"0000314800"	"0"	"10"	"9"	"35683148"	"35683148"	"subst"	"0.0761797"	"02326"	"TPM2_000006"	"g.35683148C>T"	""	""	""	"TPM2(NM_001301227.2):c.*8G>A, TPM2(NM_003289.3):c.*8G>A"	"VKGL data sharing initiative Nederland"	"CLASSIFICATION record"	""	""	"0"	""	""	"g.35683151C>T"	""	"benign"	""
"0000314802"	"0"	"30"	"9"	"35683248"	"35683248"	"dup"	"0"	"02326"	"TPM2_000046"	"g.35683248dup"	""	""	""	"TPM2(NM_001301227.2):c.773-3dupC, TPM2(NM_003289.3):c.773-3dupC, TPM2(NM_003289.4):c.773-3dupC"	"VKGL data sharing initiative Nederland"	"CLASSIFICATION record"	""	""	"0"	""	""	"g.35683251dup"	""	"likely benign"	""
"0000332616"	"0"	"50"	"9"	"35681020"	"35681020"	"subst"	"0"	"01804"	"CA9_000001"	"g.35681020T>C"	""	""	""	"CA9(NM_001216.2):c.1378T>C (p.(Ter460GlnextTer15))"	"VKGL data sharing initiative Nederland"	"CLASSIFICATION record"	""	""	"0"	""	""	"g.35681023T>C"	""	"VUS"	""
"0000337845"	"0"	"10"	"9"	"35683148"	"35683148"	"subst"	"0.0761797"	"02327"	"TPM2_000006"	"g.35683148C>T"	""	""	""	"TPM2(NM_001301227.2):c.*8G>A, TPM2(NM_003289.3):c.*8G>A"	"VKGL data sharing initiative Nederland"	"CLASSIFICATION record"	""	""	"0"	""	""	"g.35683151C>T"	""	"benign"	""
"0000337847"	"0"	"10"	"9"	"35689949"	"35689949"	"subst"	"0"	"02327"	"TPM2_000057"	"g.35689949A>T"	""	""	""	""	"VKGL data sharing initiative Nederland"	"CLASSIFICATION record"	""	""	"0"	""	""	"g.35689952A>T"	""	"benign"	""
"0000337848"	"0"	"10"	"9"	"35689950"	"35689950"	"subst"	"0"	"02327"	"TPM2_000058"	"g.35689950A>T"	""	""	""	""	"VKGL data sharing initiative Nederland"	"CLASSIFICATION record"	""	""	"0"	""	""	"g.35689953A>T"	""	"benign"	""
"0000337849"	"0"	"10"	"9"	"35689951"	"35689951"	"subst"	"0"	"02327"	"TPM2_000059"	"g.35689951A>T"	""	""	""	""	"VKGL data sharing initiative Nederland"	"CLASSIFICATION record"	""	""	"0"	""	""	"g.35689954A>T"	""	"benign"	""
"0000341191"	"0"	"90"	"9"	"35685459"	"35685459"	"subst"	"0"	"02327"	"TPM2_000042"	"g.35685459G>A"	""	""	""	""	"VKGL data sharing initiative Nederland"	"CLASSIFICATION record"	""	""	"0"	""	""	"g.35685462G>A"	""	"pathogenic"	""
"0000341865"	"0"	"90"	"9"	"35685526"	"35685526"	"subst"	"0"	"02327"	"TPM2_000010"	"g.35685526G>A"	""	""	""	""	"VKGL data sharing initiative Nederland"	"CLASSIFICATION record"	""	""	"0"	""	""	"g.35685529G>A"	""	"pathogenic"	""
"0000350363"	"0"	"70"	"9"	"35685271"	"35685279"	"del"	"0"	"02327"	"TPM2_000056"	"g.35685271_35685279del"	""	""	""	""	"VKGL data sharing initiative Nederland"	"CLASSIFICATION record"	""	""	"0"	""	""	"g.35685274_35685282del"	""	"likely pathogenic"	""
"0000355556"	"1"	"90"	"9"	"35689236"	"35689244"	"del"	"0"	"00006"	"TPM2_000065"	"g.35689236_35689244del"	""	"{PMID:Beck 2013:23401156}"	""	"140_148del10"	""	"De novo"	""	""	"0"	""	""	"g.35689239_35689247del"	""	"pathogenic"	""
"0000355557"	"1"	"90"	"9"	"35685729"	"35685729"	"subst"	"0"	"00006"	"TPM2_000064"	"g.35685729C>T"	""	"{PMID:Beck 2013:23401156}"	""	""	""	"De novo"	""	""	"0"	""	""	"g.35685732C>T"	""	"pathogenic"	""
"0000355558"	"1"	"90"	"9"	"35685719"	"35685719"	"subst"	"0"	"00006"	"TPM2_000063"	"g.35685719T>C"	""	"{PMID:Beck 2013:23401156}"	""	""	""	"De novo"	""	""	"0"	""	""	"g.35685722T>C"	""	"pathogenic"	""
"0000355559"	"1"	"90"	"9"	"35685704"	"35685704"	"subst"	"0"	"00006"	"TPM2_000062"	"g.35685704C>G"	""	"{PMID:Beck 2013:23401156}"	""	""	""	"Germline"	""	""	"0"	""	""	"g.35685707C>G"	""	"pathogenic"	""
"0000355560"	"1"	"90"	"9"	"35685526"	"35685526"	"subst"	"0"	"00006"	"TPM2_000010"	"g.35685526G>A"	""	"{PMID:Beck 2013:23401156}"	""	""	""	"Germline"	""	""	"0"	""	""	"g.35685529G>A"	""	"pathogenic"	""
"0000355561"	"1"	"90"	"9"	"35685526"	"35685526"	"subst"	"0"	"00006"	"TPM2_000010"	"g.35685526G>A"	""	"{PMID:Beck 2013:23401156}"	""	""	""	"Germline"	""	""	"0"	""	""	"g.35685529G>A"	""	"pathogenic"	""
"0000355562"	"1"	"90"	"9"	"35685526"	"35685526"	"subst"	"0"	"00006"	"TPM2_000010"	"g.35685526G>A"	""	"{PMID:Beck 2013:23401156}"	""	""	""	"Germline"	""	""	"0"	""	""	"g.35685529G>A"	""	"pathogenic"	""
"0000355563"	"1"	"90"	"9"	"35685526"	"35685526"	"subst"	"0"	"00006"	"TPM2_000010"	"g.35685526G>A"	""	"{PMID:Beck 2013:23401156}"	""	""	""	"Germline"	""	""	"0"	""	""	"g.35685529G>A"	""	"pathogenic"	""
"0000355564"	"1"	"90"	"9"	"35685526"	"35685526"	"subst"	"0"	"00006"	"TPM2_000010"	"g.35685526G>A"	""	"{PMID:Beck 2013:23401156}"	""	""	""	"Germline"	""	""	"0"	""	""	"g.35685529G>A"	""	"pathogenic"	""
"0000355565"	"1"	"90"	"9"	"35685526"	"35685526"	"subst"	"0"	"00006"	"TPM2_000010"	"g.35685526G>A"	""	"{PMID:Beck 2013:23401156}"	""	""	""	"Germline"	""	""	"0"	""	""	"g.35685529G>A"	""	"pathogenic"	""
"0000355566"	"1"	"90"	"9"	"35685490"	"35685490"	"subst"	"0"	"00006"	"TPM2_000061"	"g.35685490C>T"	""	"{PMID:Beck 2013:23401156}"	""	""	""	"De novo"	""	""	"0"	""	""	"g.35685493C>T"	""	"pathogenic"	""
"0000355567"	"1"	"90"	"9"	"35689757"	"35689757"	"subst"	"0"	"00006"	"TPM2_000066"	"g.35689757C>G"	""	"{PMID:Beck 2013:23401156}"	""	""	""	"Germline"	""	""	"0"	""	""	"g.35689760C>G"	""	"pathogenic"	""
"0000355568"	"1"	"90"	"9"	"35683229"	"35683229"	"subst"	"0"	"00006"	"TPM2_000060"	"g.35683229T>C"	""	"{PMID:Beck 2013:23401156}"	""	""	""	"De novo"	""	""	"0"	""	""	"g.35683232T>C"	""	"pathogenic"	""
"0000446871"	"1"	"90"	"9"	"35689241"	"35689243"	"del"	"0"	"00006"	"TPM2_000013"	"g.35689241_35689243del"	""	"{PMID:Ohlsson 2008:19047562}, {OMIM190990:0007}"	""	"384_386del"	"de novo, in patient"	"De novo"	""	""	"0"	""	""	"g.35689244_35689246del"	""	"pathogenic"	""
"0000446872"	"1"	"90"	"9"	"35685509"	"35685511"	"del"	"0"	"00006"	"TPM2_000011"	"g.35685509_35685511del"	""	"{PMID:Clarke 2009:19345583}"	""	"412_414delGAG"	"0/228 control chromosomes; de novo, in patient"	"De novo"	""	""	"0"	""	""	"g.35685512_35685514del"	""	"pathogenic"	""
"0000446873"	"1"	"90"	"9"	"35684762"	"35684762"	"subst"	"0"	"00006"	"TPM2_000015"	"g.35684762G>C"	""	"{PMID:Ohlsson 2008:19047562}, {OMIM190990:0008}"	""	"845C>G"	"de novo, in patient"	"De novo"	""	""	"0"	""	""	"g.35684765G>C"	""	"pathogenic"	""
"0000446874"	"1"	"90"	"9"	"35685483"	"35685483"	"subst"	"0"	"00006"	"TPM2_000001"	"g.35685483T>G"	""	"{PMID:Donner 2002:11738357}, {OMIM190990:0002}"	""	"Glu147Pro, not possible"	"possibly de novo (not in mother, 7 sibs); RNA muscle"	"De novo"	""	""	"0"	""	""	"g.35685486T>G"	""	"pathogenic"	""
"0000446875"	"1"	"90"	"9"	"35685669"	"35685669"	"subst"	"0"	"00006"	"TPM2_000002"	"g.35685669C>T"	""	"{PMID:Donner 2002:11738357}, {OMIM190990:0003}"	""	"Gln117Lys, not possible"	"de novo, in patient"	"De novo"	""	""	"0"	""	""	"g.35685672C>T"	""	"pathogenic"	""
"0000446876"	"21"	"90"	"9"	"35685669"	"35685669"	"subst"	"0"	"00006"	"TPM2_000002"	"g.35685669C>T"	""	"{PMID:Donner 2002:11738357}, {OMIM190990:0003}"	""	"Gln117Lys, not possible"	"RNA muscle"	"Germline"	""	""	"0"	""	""	"g.35685672C>T"	""	"pathogenic"	""
"0000446877"	"0"	"10"	"9"	"35689373"	"35689373"	"subst"	"0"	"00006"	"TPM2_000003"	"g.35689373T>C"	"66/158 controls"	"{PMID:Donner 2002:11738357}"	""	"IVS1 328A>G"	""	"Germline"	""	""	"0"	""	""	"g.35689376T>C"	""	"benign"	""
"0000446878"	"0"	"10"	"9"	"35684491"	"35684491"	"dup"	"0"	"00006"	"TPM2_000021"	"g.35684491dup"	"72/172 controls"	"{PMID:Donner 2002:11738357}"	""	"IVS6 231 8C/9C"	"Variant Error [EMISMATCH/EINVALIDBOUNDARY]: This transcript variant has an error. Please fix this entry and then remove this message."	"Germline"	""	""	"0"	""	""	""	""	"benign"	""
"0000446879"	"0"	"10"	"9"	"35683248"	"35683248"	"dup"	"0"	"00006"	"TPM2_000004"	"g.35683248dup"	"8/34 controls"	"{PMID:Donner 2002:11738357}"	""	"IVS6 995 8C/9C"	""	"Germline"	""	"rs3215700"	"0"	""	""	"g.35683251dup"	""	"benign"	""
"0000446880"	"0"	"10"	"9"	"35683148"	"35683148"	"subst"	"0.0761797"	"00006"	"TPM2_000006"	"g.35683148C>T"	"22/154 controls"	"{PMID:Donner 2002:11738357}"	""	""	""	"Germline"	""	""	"0"	""	""	"g.35683151C>T"	""	"benign"	""
"0000446881"	"0"	"90"	"9"	"35685747"	"35685747"	"subst"	"0"	"00006"	"TPM2_000009"	"g.35685747G>C"	""	"{PMID:Sung 2003:12592607}, {OMIM190990:0001}"	"SacII+"	""	"not in 140 control chromosomes"	"Germline"	""	""	"0"	""	""	"g.35685750G>C"	""	"pathogenic (dominant)"	""
"0000446882"	"1"	"90"	"9"	"35685526"	"35685526"	"subst"	"0"	"00006"	"TPM2_000010"	"g.35685526G>A"	""	"{PMID:Tajsharghi 2007:17339586}, {OMIM190990:0004}"	"BsrI+"	""	"not in 200 control chromosomes"	"De novo"	""	""	"0"	""	""	"g.35685529G>A"	""	"pathogenic"	""
"0000446883"	"21"	"90"	"9"	"35685526"	"35685526"	"subst"	"0"	"00006"	"TPM2_000010"	"g.35685526G>A"	""	"{PMID:Tajsharghi 2007:17339586}, {OMIM190990:0004}"	"BsrI+"	""	"not in 200 control chromosomes"	"Germline"	""	""	"0"	""	""	"g.35685529G>A"	""	"pathogenic"	""
"0000446884"	"10"	"90"	"9"	"35685509"	"35685511"	"del"	"0"	"00006"	"TPM2_000011"	"g.35685509_35685511del"	""	"{PMID:Lehtokari 2007:17434307}, {OMIM190990:0006}"	""	"415_417delGAG"	"no DNA father; not in 200 control chromosomes"	"Germline"	""	""	"0"	""	""	"g.35685512_35685514del"	""	"pathogenic"	""
"0000446885"	"1"	"90"	"9"	"35689262"	"35689262"	"subst"	"0"	"00006"	"TPM2_000012"	"g.35689262C>T"	""	"{PMID:Tajshargi 2007:17846275}, {PMID:Nilsson 2008:18422639}, {OMIM190990:0005}"	"BslI-"	"cG360A, G1639A"	"not in 200 control chromosomes"	"Germline"	""	""	"0"	""	""	"g.35689265C>T"	""	"pathogenic"	""
"0000446886"	"21"	"90"	"9"	"35689262"	"35689262"	"subst"	"0"	"00006"	"TPM2_000012"	"g.35689262C>T"	""	"{PMID:Tajshargi 2007:17846275}, {PMID:Nilsson 2008:18422639}, {OMIM190990:0005}"	"BslI-"	"cG360A, G1639A"	"not in 200 control chromosomes"	"Germline"	""	""	"0"	""	""	"g.35689265C>T"	""	"pathogenic"	""
"0000446887"	"1"	"90"	"9"	"35689228"	"35689230"	"dup"	"0"	"00006"	"TPM2_000014"	"g.35689228_35689230dup"	""	"{PMID:Ohlsson 2008:19047562}"	""	"392_394dupGGG"	"de novo, in patient"	"De novo"	""	""	"0"	""	""	"g.35689231_35689233dup"	""	"pathogenic"	""
"0000446888"	"0"	"70"	"9"	"35689139"	"35689142"	"del"	"0"	"00464"	"TPM2_000016"	"g.35689139_35689142del"	""	""	""	""	""	"Germline"	""	""	"0"	""	""	"g.35689142_35689145del"	""	"likely pathogenic"	""
"0000446889"	"0"	"50"	"9"	"35684535"	"35684537"	"del"	"0"	"00464"	"TPM2_000017"	"g.35684535_35684537del"	""	""	""	"654_656delAGA"	""	"Germline"	""	""	"0"	""	""	"g.35684538_35684540del"	""	"VUS"	""
"0000446890"	"0"	"50"	"9"	"35689810"	"35689810"	"subst"	"0"	"00464"	"TPM2_000018"	"g.35689810T>A"	""	""	""	""	""	"Germline"	""	""	"0"	""	""	"g.35689813T>A"	""	"VUS"	""
"0000446891"	"1"	"90"	"9"	"35685669"	"35685669"	"subst"	"0"	"00006"	"TPM2_000002"	"g.35685669C>T"	""	"J Goto ASHG 2010 A905"	""	""	"mapped by linkage, candidate gene sequencing"	"Germline"	""	""	"0"	""	""	"g.35685672C>T"	""	"pathogenic (dominant)"	""
"0000446892"	"0"	"50"	"9"	"35685740"	"35685740"	"subst"	"0"	"00464"	"TPM2_000019"	"g.35685740T>C"	""	""	""	""	""	"Germline"	""	""	"0"	""	""	"g.35685743T>C"	""	"VUS"	""
"0000446893"	"0"	"50"	"9"	"35683241"	"35683241"	"subst"	"1.39466E-5"	"00464"	"TPM2_000020"	"g.35683241G>T"	""	""	""	""	""	"Germline"	""	""	"0"	""	""	"g.35683244G>T"	""	"VUS"	""
"0000446894"	"10"	"10"	"9"	"35683248"	"35683248"	"dup"	"0"	"00464"	"TPM2_000004"	"g.35683248dup"	""	""	""	"773-3dupC"	""	"Germline"	""	"rs3215700"	"0"	""	""	"g.35683251dup"	""	"benign"	""
"0000446895"	"20"	"10"	"9"	"35683248"	"35683248"	"dup"	"0"	"00464"	"TPM2_000004"	"g.35683248dup"	""	""	""	"773-3dupC"	""	"Germline"	""	"rs3215700"	"0"	""	""	"g.35683251dup"	""	"benign"	""
"0000446896"	"0"	"50"	"9"	"35689138"	"35689138"	"subst"	"0"	"00464"	"TPM2_000022"	"g.35689138C>T"	""	""	""	""	""	"De novo"	""	""	"0"	""	""	"g.35689141C>T"	""	"VUS"	""
"0000446897"	"0"	"50"	"9"	"35689800"	"35689802"	"del"	"0"	"00464"	"TPM2_000023"	"g.35689800_35689802del"	""	""	""	"20_22delAGA"	""	"Germline"	""	""	"0"	""	""	"g.35689803_35689805del"	""	"VUS"	""
"0000446898"	"0"	"70"	"9"	"35685525"	"35685525"	"subst"	"0"	"00464"	"TPM2_000024"	"g.35685525C>G"	""	""	""	""	""	"De novo"	""	""	"0"	""	""	"g.35685528C>G"	""	"likely pathogenic"	""
"0000446899"	"0"	"70"	"9"	"35689141"	"35689141"	"subst"	"0"	"00464"	"TPM2_000025"	"g.35689141A>C"	""	""	""	""	""	"De novo"	""	""	"0"	""	""	"g.35689144A>C"	""	"likely pathogenic"	""
"0000446900"	"11"	"90"	"9"	"35684740"	"35684740"	"subst"	"0"	"00006"	"TPM2_000026"	"g.35684740G>A"	""	"{PMID:Monnier 2009:19155175}"	""	""	"mRNA level reduced to 1.5%"	"Germline"	""	""	"0"	""	""	"g.35684743G>A"	""	"pathogenic (recessive)"	""
"0000446901"	"21"	"90"	"9"	"35684740"	"35684740"	"subst"	"0"	"00006"	"TPM2_000026"	"g.35684740G>A"	""	"{PMID:Monnier 2009:19155175}"	""	""	"mRNA level reduced to 1.5%"	"Germline"	""	""	"0"	""	""	"g.35684743G>A"	""	"pathogenic (recessive)"	""
"0000446902"	"1"	"90"	"9"	"35684740"	"35684740"	"subst"	"0"	"00006"	"TPM2_000026"	"g.35684740G>A"	""	"{PMID:Monnier 2009:19155175}"	""	""	""	"Germline"	""	""	"0"	""	""	"g.35684743G>A"	""	"pathogenic (recessive)"	""
"0000446903"	"0"	"10"	"9"	"35684491"	"35684491"	"dup"	"0"	"00006"	"TPM2_000021"	"g.35684491dup"	"78/172 controls"	"{PMID:Donner 2002:11738357}"	""	"IVS6 231 8C/9C"	"Variant Error [EMISMATCH/EINVALIDBOUNDARY]: This transcript variant has an error. Please fix this entry and then remove this message."	"Germline"	""	""	"0"	""	""	""	""	"benign"	""
"0000446904"	"0"	"10"	"9"	"35684491"	"35684491"	"dup"	"0"	"00006"	"TPM2_000021"	"g.35684491dup"	"78/172 controls"	"{PMID:Donner 2002:11738357}"	""	"IVS6 231 8C/9C"	"Variant Error [EMISMATCH/EINVALIDBOUNDARY]: This transcript variant has an error. Please fix this entry and then remove this message."	"Germline"	""	""	"0"	""	""	""	""	"benign"	""
"0000446905"	"0"	"10"	"9"	"35683248"	"35683248"	"dup"	"0"	"00006"	"TPM2_000004"	"g.35683248dup"	"4/34 controls"	"{PMID:Donner 2002:11738357}"	""	"IVS6 995 8C/9C"	""	"Germline"	""	"rs3215700"	"0"	""	""	"g.35683251dup"	""	"benign"	""
"0000446906"	"0"	"10"	"9"	"35683248"	"35683248"	"dup"	"0"	"00006"	"TPM2_000004"	"g.35683248dup"	"4/34 controls"	"{PMID:Donner 2002:11738357}"	""	"IVS6 995 8C/9C"	""	"Germline"	""	"rs3215700"	"0"	""	""	"g.35683251dup"	""	"benign"	""
"0000446907"	"0"	"10"	"9"	"35689373"	"35689373"	"subst"	"0"	"00006"	"TPM2_000003"	"g.35689373T>C"	"44/158 controls"	"{PMID:Donner 2002:11738357}"	""	"IVS1 328A>G"	""	"Germline"	""	""	"0"	""	""	"g.35689376T>C"	""	"benign"	""
"0000446908"	"0"	"10"	"9"	"35689373"	"35689373"	"subst"	"0"	"00006"	"TPM2_000003"	"g.35689373T>C"	"44/158 controls"	"{PMID:Donner 2002:11738357}"	""	"IVS1 328A>G"	""	"Germline"	""	""	"0"	""	""	"g.35689376T>C"	""	"benign"	""
"0000446909"	"0"	"10"	"9"	"35683148"	"35683148"	"subst"	"0.0761797"	"00006"	"TPM2_000006"	"g.35683148C>T"	"8/154 controls"	"{PMID:Donner 2002:11738357}"	""	""	""	"Germline"	""	""	"0"	""	""	"g.35683151C>T"	""	"benign"	""
"0000446910"	"0"	"10"	"9"	"35683148"	"35683148"	"subst"	"0.0761797"	"00006"	"TPM2_000006"	"g.35683148C>T"	"8/154 controls"	"{PMID:Donner 2002:11738357}"	""	""	""	"Germline"	""	""	"0"	""	""	"g.35683151C>T"	""	"benign"	""
"0000446911"	"0"	"90"	"9"	"35685669"	"35685669"	"subst"	"0"	"00464"	"TPM2_000027"	"g.35685669C>G"	""	""	""	""	""	"De novo"	""	""	"0"	""	""	"g.35685672C>G"	""	"pathogenic"	""
"0000446912"	"0"	"90"	"9"	"35685669"	"35685669"	"subst"	"0"	"00464"	"TPM2_000002"	"g.35685669C>T"	""	""	""	""	""	"Unknown"	""	""	"0"	""	""	"g.35685672C>T"	""	"pathogenic"	""
"0000446913"	"0"	"50"	"9"	"35685661"	"35685661"	"subst"	"4.8752E-5"	"00430"	"TPM2_000028"	"g.35685661C>T"	""	"from website {DBsub-Emory}"	""	""	""	"Unknown"	""	""	"0"	""	""	"g.35685664C>T"	""	"VUS"	""
"0000446914"	"0"	"10"	"9"	"35684821"	"35684821"	"dup"	"0"	"00430"	"TPM2_000029"	"g.35684821dup"	""	"from website {DBsub-Emory}"	""	"564-19dupC"	""	"Unknown"	""	""	"0"	""	""	"g.35684824dup"	""	"benign"	""
"0000446915"	"0"	"10"	"9"	"35684696"	"35684696"	"subst"	"0.000970842"	"00430"	"TPM2_000030"	"g.35684696C>A"	""	"from website {DBsub-Emory}"	""	""	""	"Unknown"	""	""	"0"	""	""	"g.35684699C>A"	""	"benign"	""
"0000446916"	"0"	"10"	"9"	"35683247"	"35683248"	"dup"	"0"	"00430"	"TPM2_000047"	"g.35683247_35683248dup"	""	"from website {DBsub-Emory}"	""	"773-4_773-3dupCC"	""	"Unknown"	""	""	"0"	""	""	"g.35683250_35683251dup"	""	"benign"	""
"0000446917"	"0"	"10"	"9"	"35683248"	"35683248"	"dup"	"0"	"00430"	"TPM2_000004"	"g.35683248dup"	""	"from website {DBsub-Emory}"	""	"773-3dupC"	""	"Unknown"	""	"rs3215700"	"0"	""	""	"g.35683251dup"	""	"benign"	""
"0000446918"	"0"	"10"	"9"	"35683149"	"35683149"	"subst"	"0.00777995"	"00430"	"TPM2_000032"	"g.35683149G>A"	""	"from website {DBsub-Emory}"	""	""	""	"Unknown"	""	""	"0"	""	""	"g.35683152G>A"	""	"benign"	""
"0000446919"	"0"	"10"	"9"	"35683148"	"35683148"	"subst"	"0.0761797"	"00430"	"TPM2_000006"	"g.35683148C>T"	""	"from website {DBsub-Emory}"	""	""	""	"Unknown"	""	""	"0"	""	""	"g.35683151C>T"	""	"benign"	""
"0000446920"	"0"	"70"	"9"	"35685445"	"35685445"	"subst"	"0"	"00464"	"TPM2_000033"	"g.35685445G>A"	""	""	""	""	""	"De novo"	""	""	"0"	""	""	"g.35685448G>A"	""	"likely pathogenic"	""
"0000446921"	"0"	"70"	"9"	"35685299"	"35685299"	"subst"	"0"	"00464"	"TPM2_000034"	"g.35685299T>A"	""	""	""	""	""	"De novo"	""	""	"0"	""	""	"g.35685302T>A"	""	"likely pathogenic"	""
"0000446922"	"0"	"50"	"9"	"35689141"	"35689141"	"subst"	"0"	"00542"	"TPM2_000025"	"g.35689141A>C"	""	""	""	""	""	"De novo"	""	""	"0"	""	""	"g.35689144A>C"	""	"VUS"	""
"0000446923"	"0"	"50"	"9"	"35689138"	"35689138"	"subst"	"0"	"00542"	"TPM2_000022"	"g.35689138C>T"	""	""	""	""	""	"De novo"	""	""	"0"	""	""	"g.35689141C>T"	""	"VUS"	""
"0000446924"	"0"	"50"	"9"	"35689807"	"35689807"	"subst"	"0"	"00542"	"TPM2_000035"	"g.35689807G>C"	""	""	""	""	""	"De novo"	""	""	"0"	""	""	"g.35689810G>C"	""	"VUS"	""
"0000446925"	"0"	"70"	"9"	"35685739"	"35685739"	"subst"	"0"	"00542"	"TPM2_000036"	"g.35685739C>G"	""	""	""	""	""	"De novo"	"yes"	""	"0"	""	""	"g.35685742C>G"	""	"likely pathogenic"	""
"0000446926"	"0"	"70"	"9"	"35685541"	"35685541"	"subst"	"0"	"00542"	"TPM2_000037"	"g.35685541T>C"	""	""	""	""	""	"De novo"	""	""	"0"	""	""	"g.35685544T>C"	""	"likely pathogenic"	""
"0000446927"	"0"	"70"	"9"	"35685525"	"35685525"	"subst"	"0"	"00542"	"TPM2_000024"	"g.35685525C>G"	""	""	""	""	""	"Somatic"	""	""	"0"	""	""	"g.35685528C>G"	""	"likely pathogenic"	""
"0000446928"	"0"	"70"	"9"	"35685495"	"35685495"	"subst"	"0"	"00542"	"TPM2_000038"	"g.35685495A>G"	""	""	""	""	""	"Germline"	""	""	"0"	""	""	"g.35685498A>G"	""	"likely pathogenic"	""
"0000446929"	"0"	"70"	"9"	"35685480"	"35685480"	"subst"	"0"	"00542"	"TPM2_000039"	"g.35685480A>G"	""	""	""	""	""	"De novo"	""	""	"0"	""	""	"g.35685483A>G"	""	"likely pathogenic"	""
"0000446930"	"0"	"50"	"9"	"35683209"	"35683209"	"subst"	"0"	"00464"	"TPM2_000040"	"g.35683209T>C"	""	""	""	""	""	"Germline"	""	""	"0"	""	""	"g.35683212T>C"	""	"VUS"	""
"0000446931"	"0"	"70"	"9"	"35689202"	"35689202"	"subst"	"0"	"01700"	"TPM2_000041"	"g.35689202A>G"	""	"{PMID:Clarke 2012:22832343}, {DOI:Clarke 2015:10.1016/j.nmd.2012.06.002}, {PMID:Punetha 2016:27854218}"	""	"Chr9(GRCh38):g.35689205A>G"	"no variants in RYR1, ACTA1, TPM3"	"De novo"	"-"	""	"0"	""	""	"g.35689205A>G"	""	"likely pathogenic"	""
"0000446932"	"0"	"70"	"9"	"35685459"	"35685459"	"subst"	"0"	"00006"	"TPM2_000042"	"g.35685459G>A"	""	"{PMID:Clarke 2012:22832343}, {DOI:Clarke 2015:10.1016/j.nmd.2012.06.002}"	""	""	"no variants in ACTA1, TPM3"	"De novo"	""	""	"0"	""	""	"g.35685462G>A"	""	"likely pathogenic"	""
"0000446933"	"0"	"10"	"9"	"35684488"	"35684488"	"subst"	"0"	"00006"	"TPM2_000007"	"g.35684488C>A"	""	""	""	""	""	"Germline"	""	"rs1804558"	"0"	""	""	"g.35684491C>A"	""	"benign"	""
"0000446934"	"0"	"10"	"9"	"35683194"	"35683194"	"subst"	"0"	"00006"	"TPM2_000008"	"g.35683194C>T"	"0.99"	""	""	""	""	"Germline"	""	"rs3180843"	"0"	""	""	"g.35683197C>T"	""	"benign"	""
"0000474792"	"0"	"50"	"9"	"35689157"	"35689159"	"del"	"0"	"01164"	"TPM2_000067"	"g.35689157_35689159del"	""	""	""	""	"ACMG grading: PM4,PM2"	"Germline"	""	""	"0"	""	""	"g.35689160_35689162del"	""	"VUS"	"ACMG"
"0000538113"	"0"	"90"	"9"	"35683229"	"35683229"	"subst"	"0"	"01804"	"TPM2_000060"	"g.35683229T>C"	""	""	""	"TPM2(NM_003289.3):c.782A>G (p.(Tyr261Cys))"	"VKGL data sharing initiative Nederland"	"CLASSIFICATION record"	""	""	""	""	""	"g.35683232T>C"	""	"pathogenic"	""
"0000538114"	"0"	"10"	"9"	"35683241"	"35683242"	"ins"	"0.0043374"	"02326"	"CA9_000013"	"g.35683241_35683242insT"	""	""	""	"TPM2(NM_001301227.1):c.773-4_773-3insA, TPM2(NM_001301227.2):c.773-4_773-3insA"	"VKGL data sharing initiative Nederland"	"CLASSIFICATION record"	""	""	""	""	""	"g.35683244_35683245insT"	""	"benign"	""
"0000538115"	"0"	"10"	"9"	"35683246"	"35683248"	"dup"	"0"	"02330"	"CA9_000014"	"g.35683246_35683248dup"	""	""	""	"TPM2(NM_001301227.2):c.773-5_773-3dupCCC"	"VKGL data sharing initiative Nederland"	"CLASSIFICATION record"	""	""	""	""	""	"g.35683249_35683251dup"	""	"benign"	""
"0000538116"	"0"	"10"	"9"	"35683247"	"35683248"	"dup"	"0"	"01804"	"TPM2_000047"	"g.35683247_35683248dup"	""	""	""	"TPM2(NM_003289.3):c.773-4_773-3dupCC, TPM2(NM_003289.4):c.773-4_773-3dup, TPM2(NM_003289.4):c.773-4_773-3dupCC"	"VKGL data sharing initiative Nederland"	"CLASSIFICATION record"	""	""	""	""	""	"g.35683250_35683251dup"	""	"benign"	""
"0000538118"	"0"	"10"	"9"	"35684830"	"35684830"	"dup"	"0"	"02330"	"TPM2_000045"	"g.35684830dup"	""	""	""	"TPM2(NM_003289.4):c.564-19dupC"	"VKGL data sharing initiative Nederland"	"CLASSIFICATION record"	""	""	""	""	""	"g.35684833dup"	""	"benign"	""
"0000656351"	"0"	"50"	"9"	"35685747"	"35685747"	"subst"	"0"	"01943"	"CA9_000020"	"g.35685747G>A"	""	""	""	"TPM2(NM_001301227.1):c.271C>T (p.R91C)"	"VKGL data sharing initiative Nederland"	"CLASSIFICATION record"	""	""	""	""	""	"g.35685750G>A"	""	"VUS"	""
"0000675282"	"1"	"90"	"9"	"35689800"	"35689802"	"del"	"0"	"00534"	"TPM2_000023"	"g.35689800_35689802del"	""	"{PMID:Ravenscroft 2020:33060286}, {DOI:Ravenscroft 2020:10.1136/jmedgenet-2020-106901}"	""	""	""	"Germline"	""	""	"0"	""	""	"g.35689803_35689805del"	""	"pathogenic (dominant)"	"ACMG"
"0000675321"	"0"	"90"	"9"	"35685288"	"35685288"	"subst"	"0"	"00534"	"TPM2_000068"	"g.35685288C>T"	""	"{PMID:Ravenscroft 2020:33060286}, {DOI:Ravenscroft 2020:10.1136/jmedgenet-2020-106901}"	""	""	"no variant 2nd chromosome"	"Germline"	""	""	"0"	""	""	"g.35685291C>T"	""	"pathogenic"	"ACMG"
"0000675326"	"1"	"90"	"9"	"35685460"	"35685460"	"subst"	"0"	"00534"	"TPM2_000053"	"g.35685460C>T"	""	"{PMID:Ravenscroft 2020:33060286}, {DOI:Ravenscroft 2020:10.1136/jmedgenet-2020-106901}"	""	""	""	"Germline"	""	""	"0"	""	""	"g.35685463C>T"	""	"pathogenic (dominant)"	"ACMG"
"0000697746"	"0"	"70"	"9"	"35685526"	"35685526"	"subst"	"0"	"00006"	"TPM2_000010"	"g.35685526G>A"	"1/1001 cases"	"{PMID:Topf 2020:32528171}"	""	""	"combination of variants not reported"	"Germline"	""	""	"0"	""	""	"g.35685529G>A"	""	"likely pathogenic"	""
"0000722516"	"0"	"70"	"9"	"35683229"	"35683229"	"subst"	"0"	"02327"	"TPM2_000060"	"g.35683229T>C"	""	""	""	"TPM2(NM_003289.3):c.782A>G (p.(Tyr261Cys))"	"VKGL data sharing initiative Nederland"	"CLASSIFICATION record"	""	""	""	""	""	""	""	"likely pathogenic"	""
"0000722517"	"0"	"50"	"9"	"35685746"	"35685746"	"subst"	"1.22084E-5"	"02329"	"CA9_000015"	"g.35685746C>T"	""	""	""	"TPM2(NM_001301227.1):c.272G>A (p.R91H)"	"VKGL data sharing initiative Nederland"	"CLASSIFICATION record"	""	""	""	""	""	""	""	"VUS"	""
"0000832975"	"1"	"90"	"9"	"35684755"	"35684755"	"subst"	"0"	"00006"	"TPM2_000069"	"g.35684755T>C"	""	"{PMID:Natera-de Benito 2021:33333461}"	""	""	"ACMG PVS1, PM2, PM3"	"Germline"	""	""	"0"	""	""	"g.35684758T>C"	""	"pathogenic (dominant)"	"ACMG"
"0000833073"	"1"	"70"	"9"	"35685509"	"35685511"	"del"	"0"	"00006"	"TPM2_000011"	"g.35685509_35685511del"	""	"{PMID:Gonzalez-Quereda 2020:32403337}"	""	""	""	"Germline"	""	""	"0"	""	""	"g.35685512_35685514del"	""	"likely pathogenic"	""
"0000880813"	"0"	"90"	"9"	"35689800"	"35689802"	"del"	"0"	"00006"	"TPM2_000023"	"g.35689800_35689802del"	""	"{PMID:Gurgel-Giannetti 2022:36233295}"	""	""	"ACMG PM2 PS4 PP3 PM6"	"Germline"	""	""	"0"	""	""	"g.35689803_35689805del"	""	"pathogenic"	"ACMG"
"0000881331"	"0"	"70"	"9"	"35682162"	"35682162"	"subst"	"0"	"02300"	"TPM2_000070"	"g.35682162T>G"	""	"{PMID:Marinakis 2021:34008892}"	""	"NM_213674.1:c.773-2A>C"	"ACMG PVS1, PM2"	"Germline/De novo (untested)"	""	"rs1603590649"	"0"	""	""	"g.35682165T>G"	""	"likely pathogenic (dominant)"	"ACMG"
"0000888835"	"0"	"30"	"9"	"35683247"	"35683248"	"dup"	"0"	"02326"	"TPM2_000047"	"g.35683247_35683248dup"	""	""	""	"TPM2(NM_003289.3):c.773-4_773-3dupCC, TPM2(NM_003289.4):c.773-4_773-3dup, TPM2(NM_003289.4):c.773-4_773-3dupCC"	"VKGL data sharing initiative Nederland"	"CLASSIFICATION record"	""	""	""	""	""	""	""	"likely benign"	""
"0000913156"	"0"	"30"	"9"	"35683246"	"35683246"	"subst"	"1.30446E-5"	"01804"	"CA9_000024"	"g.35683246G>T"	""	""	""	"TPM2(NM_003289.3):c.773-8C>A (p.(=))"	"VKGL data sharing initiative Nederland"	"CLASSIFICATION record"	""	""	""	""	""	""	""	"likely benign"	""
"0000946040"	"21"	"90"	"9"	"35685509"	"35685511"	"del"	"0"	"00006"	"TPM2_000011"	"g.35685509_35685511del"	""	"{PMID:Westra 2019:31127727}"	""	""	"mosaic (0.10-0.15) in healthy mother"	"Germline"	""	""	"0"	""	""	"g.35685512_35685514del"	""	"pathogenic (dominant)"	""
"0000949281"	"0"	"10"	"9"	"35683241"	"35683242"	"ins"	"0.0043374"	"02330"	"CA9_000013"	"g.35683241_35683242insT"	""	""	""	"TPM2(NM_001301227.1):c.773-4_773-3insA, TPM2(NM_001301227.2):c.773-4_773-3insA"	"VKGL data sharing initiative Nederland"	"CLASSIFICATION record"	""	""	""	""	""	""	""	"benign"	""
"0000949282"	"0"	"90"	"9"	"35685654"	"35685654"	"subst"	"0"	"02327"	"CA9_000027"	"g.35685654C>T"	""	""	""	""	"VKGL data sharing initiative Nederland"	"CLASSIFICATION record"	""	""	""	""	""	""	""	"pathogenic"	""
"0000997860"	"0"	"30"	"9"	"35685336"	"35685336"	"subst"	"0"	"01804"	"CA9_000029"	"g.35685336C>T"	""	""	""	"TPM2(NM_003289.3):c.493G>A (p.(Val165Met))"	"VKGL data sharing initiative Nederland"	"CLASSIFICATION record"	""	""	""	""	""	""	""	"likely benign"	""
"0000997861"	"0"	"30"	"9"	"35685662"	"35685662"	"subst"	"4.06372E-6"	"01804"	"CA9_000030"	"g.35685662G>A"	""	""	""	"TPM2(NM_003289.3):c.356C>T (p.(Ala119Val))"	"VKGL data sharing initiative Nederland"	"CLASSIFICATION record"	""	""	""	""	""	""	""	"likely benign"	""
"0000997862"	"0"	"50"	"9"	"35689157"	"35689157"	"subst"	"0"	"01804"	"TPM2_000071"	"g.35689157T>G"	""	""	""	"TPM2(NM_003289.3):c.226A>C (p.(Lys76Gln))"	"VKGL data sharing initiative Nederland"	"CLASSIFICATION record"	""	""	""	""	""	""	""	"VUS"	""
"0000997863"	"0"	"30"	"9"	"35689759"	"35689759"	"subst"	"0"	"01804"	"TPM2_000072"	"g.35689759A>G"	""	""	""	"TPM2(NM_003289.3):c.56T>C (p.(Ile19Thr))"	"VKGL data sharing initiative Nederland"	"CLASSIFICATION record"	""	""	""	""	""	""	""	"likely benign"	""
"0001037513"	"0"	"30"	"9"	"35683248"	"35683249"	"ins"	"0"	"01804"	"CA9_000034"	"g.35683248_35683249insCG"	""	""	""	"TPM2(NM_003289.4):c.773-10_773-9insGC"	"VKGL data sharing initiative Nederland"	"CLASSIFICATION record"	""	""	""	""	""	""	""	"likely benign"	""
"0001053247"	"0"	"50"	"9"	"35685065"	"35685065"	"subst"	"0"	"01804"	"CA9_000036"	"g.35685065T>C"	""	""	""	"TPM2(NM_001301227.2):c.635A>G (p.(Glu212Gly))"	"VKGL data sharing initiative Nederland"	"CLASSIFICATION record"	""	""	""	""	""	""	""	"VUS"	""


## Variants_On_Transcripts ## Do not remove or alter this header ##
## Please note that not necessarily all variants found in the given individuals are shown. This output is restricted to variants in the selected gene.
## Note: Only showing Variants_On_Transcript columns active for Genes TPM2
## Count = 241
"{{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}}"
"0000064450"	"00025394"	"10"	"-288"	"0"	"-288"	"0"	"c.-288T>C"	"r.(=)"	"p.(=)"	""
"0000064450"	"00021691"	"10"	"-288"	"0"	"-288"	"0"	"c.-288T>C"	"r.(=)"	"p.(=)"	""
"0000064451"	"00025394"	"10"	"639"	"238"	"639"	"238"	"c.639+238dup"	"r.(=)"	"p.(=)"	""
"0000064451"	"00021691"	"10"	"564"	"-19"	"564"	"-19"	"c.564-19dup"	"r.(=)"	"p.(=)"	""
"0000250557"	"00025394"	"50"	"422"	"0"	"422"	"0"	"c.422T>C"	"r.(?)"	"p.(Met141Thr)"	""
"0000250557"	"00021691"	"50"	"422"	"0"	"422"	"0"	"c.422T>C"	"r.(?)"	"p.(Met141Thr)"	""
"0000309412"	"00025394"	"10"	"773"	"-988"	"773"	"-988"	"c.773-988G>A"	"r.(=)"	"p.(=)"	""
"0000309412"	"00021691"	"10"	"863"	"0"	"863"	"0"	"c.*8G>A"	"r.(=)"	"p.(=)"	""
"0000309413"	"00025394"	"70"	"463"	"0"	"463"	"0"	"c.463G>A"	"r.(?)"	"p.(Ala155Thr)"	""
"0000309413"	"00021691"	"70"	"463"	"0"	"463"	"0"	"c.463G>A"	"r.(?)"	"p.(Ala155Thr)"	""
"0000309415"	"00025394"	"50"	"67"	"0"	"67"	"0"	"c.67G>A"	"r.(?)"	"p.(Glu23Lys)"	""
"0000309415"	"00021691"	"50"	"67"	"0"	"67"	"0"	"c.67G>A"	"r.(?)"	"p.(Glu23Lys)"	""
"0000309416"	"00025394"	"10"	"772"	"1002"	"772"	"1002"	"c.772+1002dup"	"r.(=)"	"p.(=)"	""
"0000309416"	"00021691"	"10"	"773"	"-3"	"773"	"-3"	"c.773-3dup"	"r.spl?"	"p.?"	""
"0000309417"	"00025394"	"10"	"772"	"1001"	"772"	"1002"	"c.772+1001_772+1002dup"	"r.(=)"	"p.(=)"	""
"0000309417"	"00021691"	"10"	"773"	"-4"	"773"	"-3"	"c.773-4_773-3dup"	"r.spl?"	"p.?"	""
"0000312001"	"00025394"	"10"	"772"	"1002"	"772"	"1002"	"c.772+1002dup"	"r.(=)"	"p.(=)"	""
"0000312001"	"00021691"	"10"	"773"	"-3"	"773"	"-3"	"c.773-3dup"	"r.spl?"	"p.?"	""
"0000313485"	"00025394"	"70"	"559"	"0"	"559"	"0"	"c.559G>A"	"r.(?)"	"p.(Glu187Lys)"	""
"0000313485"	"00021691"	"70"	"559"	"0"	"559"	"0"	"c.559G>A"	"r.(?)"	"p.(Glu187Lys)"	""
"0000314800"	"00025394"	"10"	"773"	"-988"	"773"	"-988"	"c.773-988G>A"	"r.(=)"	"p.(=)"	""
"0000314800"	"00021691"	"10"	"863"	"0"	"863"	"0"	"c.*8G>A"	"r.(=)"	"p.(=)"	""
"0000314802"	"00025394"	"30"	"772"	"1002"	"772"	"1002"	"c.772+1002dup"	"r.(=)"	"p.(=)"	""
"0000314802"	"00021691"	"30"	"773"	"-3"	"773"	"-3"	"c.773-3dup"	"r.spl?"	"p.?"	""
"0000332616"	"00025394"	"50"	"1913"	"0"	"1913"	"0"	"c.*1058A>G"	"r.(=)"	"p.(=)"	""
"0000332616"	"00021691"	"50"	"2991"	"0"	"2991"	"0"	"c.*2136A>G"	"r.(=)"	"p.(=)"	""
"0000337845"	"00025394"	"10"	"773"	"-988"	"773"	"-988"	"c.773-988G>A"	"r.(=)"	"p.(=)"	""
"0000337845"	"00021691"	"10"	"863"	"0"	"863"	"0"	"c.*8G>A"	"r.(=)"	"p.(=)"	""
"0000337847"	"00025394"	"10"	"-135"	"0"	"-135"	"0"	"c.-135T>A"	"r.(?)"	"p.(=)"	""
"0000337847"	"00021691"	"10"	"-135"	"0"	"-135"	"0"	"c.-135T>A"	"r.(?)"	"p.(=)"	""
"0000337848"	"00025394"	"10"	"-136"	"0"	"-136"	"0"	"c.-136T>A"	"r.(?)"	"p.(=)"	""
"0000337848"	"00021691"	"10"	"-136"	"0"	"-136"	"0"	"c.-136T>A"	"r.(?)"	"p.(=)"	""
"0000337849"	"00025394"	"10"	"-137"	"0"	"-137"	"0"	"c.-137T>A"	"r.(?)"	"p.(=)"	""
"0000337849"	"00021691"	"10"	"-137"	"0"	"-137"	"0"	"c.-137T>A"	"r.(?)"	"p.(=)"	""
"0000341191"	"00025394"	"90"	"464"	"0"	"464"	"0"	"c.464C>T"	"r.(?)"	"p.(Ala155Val)"	""
"0000341191"	"00021691"	"90"	"464"	"0"	"464"	"0"	"c.464C>T"	"r.(?)"	"p.(Ala155Val)"	""
"0000341865"	"00025394"	"90"	"397"	"0"	"397"	"0"	"c.397C>T"	"r.(?)"	"p.(Arg133Trp)"	""
"0000341865"	"00021691"	"90"	"397"	"0"	"397"	"0"	"c.397C>T"	"r.(?)"	"p.(Arg133Trp)"	""
"0000350363"	"00025394"	"70"	"553"	"0"	"561"	"0"	"c.553_561del"	"r.(?)"	"p.(Val185_Glu187del)"	""
"0000350363"	"00021691"	"70"	"553"	"0"	"561"	"0"	"c.553_561del"	"r.(?)"	"p.(Val185_Glu187del)"	""
"0000355556"	"00025394"	"90"	"140"	"0"	"148"	"0"	"c.140_148del"	"r.(?)"	"p.(Gln47_Lys49del)"	""
"0000355556"	"00021691"	"90"	"140"	"0"	"148"	"0"	"c.140_148del"	"r.(?)"	"p.(Gln47_Lys49del)"	"2"
"0000355557"	"00025394"	"90"	"289"	"0"	"289"	"0"	"c.289G>A"	"r.(?)"	"p.(Glu97Lys)"	""
"0000355557"	"00021691"	"90"	"289"	"0"	"289"	"0"	"c.289G>A"	"r.(?)"	"p.(Glu97Lys)"	"3"
"0000355558"	"00025394"	"90"	"299"	"0"	"299"	"0"	"c.299A>G"	"r.(?)"	"p.(Asp100Gly)"	""
"0000355558"	"00021691"	"90"	"299"	"0"	"299"	"0"	"c.299A>G"	"r.(?)"	"p.(Asp100Gly)"	"3"
"0000355559"	"00025394"	"90"	"314"	"0"	"314"	"0"	"c.314G>C"	"r.(?)"	"p.(Arg105Pro)"	""
"0000355559"	"00021691"	"90"	"314"	"0"	"314"	"0"	"c.314G>C"	"r.(?)"	"p.(Arg105Pro)"	"3"
"0000355560"	"00025394"	"90"	"397"	"0"	"397"	"0"	"c.397C>T"	"r.(?)"	"p.(Arg133Trp)"	""
"0000355560"	"00021691"	"90"	"397"	"0"	"397"	"0"	"c.397C>T"	"r.(?)"	"p.(Arg133Trp)"	"4"
"0000355561"	"00025394"	"90"	"397"	"0"	"397"	"0"	"c.397C>T"	"r.(?)"	"p.(Arg133Trp)"	""
"0000355561"	"00021691"	"90"	"397"	"0"	"397"	"0"	"c.397C>T"	"r.(?)"	"p.(Arg133Trp)"	"4"
"0000355562"	"00025394"	"90"	"397"	"0"	"397"	"0"	"c.397C>T"	"r.(?)"	"p.(Arg133Trp)"	""
"0000355562"	"00021691"	"90"	"397"	"0"	"397"	"0"	"c.397C>T"	"r.(?)"	"p.(Arg133Trp)"	"4"
"0000355563"	"00025394"	"90"	"397"	"0"	"397"	"0"	"c.397C>T"	"r.(?)"	"p.(Arg133Trp)"	""
"0000355563"	"00021691"	"90"	"397"	"0"	"397"	"0"	"c.397C>T"	"r.(?)"	"p.(Arg133Trp)"	"4"
"0000355564"	"00025394"	"90"	"397"	"0"	"397"	"0"	"c.397C>T"	"r.(?)"	"p.(Arg133Trp)"	""
"0000355564"	"00021691"	"90"	"397"	"0"	"397"	"0"	"c.397C>T"	"r.(?)"	"p.(Arg133Trp)"	"4"
"0000355565"	"00025394"	"90"	"397"	"0"	"397"	"0"	"c.397C>T"	"r.(?)"	"p.(Arg133Trp)"	""
"0000355565"	"00021691"	"90"	"397"	"0"	"397"	"0"	"c.397C>T"	"r.(?)"	"p.(Arg133Trp)"	"4"
"0000355566"	"00025394"	"90"	"433"	"0"	"433"	"0"	"c.433G>A"	"r.(?)"	"p.(Glu145Lys)"	""
"0000355566"	"00021691"	"90"	"433"	"0"	"433"	"0"	"c.433G>A"	"r.(?)"	"p.(Glu145Lys)"	"4"
"0000355567"	"00025394"	"90"	"58"	"0"	"58"	"0"	"c.58G>C"	"r.(?)"	"p.(Asp20His)"	""
"0000355567"	"00021691"	"90"	"58"	"0"	"58"	"0"	"c.58G>C"	"r.(?)"	"p.(Asp20His)"	"1"
"0000355568"	"00025394"	"90"	"772"	"1014"	"772"	"1014"	"c.772+1014A>G"	"r.(?)"	"p.(=)"	""
"0000355568"	"00021691"	"90"	"782"	"0"	"782"	"0"	"c.782A>G"	"r.(?)"	"p.(Tyr261Cys)"	"9"
"0000446871"	"00025394"	"90"	"145"	"0"	"147"	"0"	"c.145_147del"	"r.(?)"	"p.(Lys49del)"	""
"0000446871"	"00021691"	"90"	"145"	"0"	"147"	"0"	"c.145_147del"	"r.(?)"	"p.(Lys49del)"	"2"
"0000446872"	"00025394"	"90"	"415"	"0"	"417"	"0"	"c.415_417del"	"r.(?)"	"p.(Glu139del)"	""
"0000446872"	"00021691"	"90"	"415"	"0"	"417"	"0"	"c.415_417del"	"r.(?)"	"p.(Glu139del)"	"4"
"0000446873"	"00025394"	"90"	"640"	"-215"	"640"	"-215"	"c.640-215C>G"	"r.(?)"	"p.(=)"	""
"0000446873"	"00021691"	"90"	"606"	"0"	"606"	"0"	"c.606C>G"	"r.(?)"	"p.(Asn202Lys)"	"6"
"0000446874"	"00025394"	"90"	"440"	"0"	"440"	"0"	"c.440A>C"	"r.440a>c"	"p.Gln147Pro"	""
"0000446874"	"00021691"	"90"	"440"	"0"	"440"	"0"	"c.440A>C"	"r.440a>c"	"p.Gln147Pro"	"4"
"0000446875"	"00025394"	"90"	"349"	"0"	"349"	"0"	"c.349G>A"	"r.(?)"	"p.(Glu117Lys)"	""
"0000446875"	"00021691"	"90"	"349"	"0"	"349"	"0"	"c.349G>A"	"r.(?)"	"p.(Glu117Lys)"	"3"
"0000446876"	"00025394"	"90"	"349"	"0"	"349"	"0"	"c.349G>A"	"r.349g>a"	"p.Glu117Lys"	""
"0000446876"	"00021691"	"90"	"349"	"0"	"349"	"0"	"c.349G>A"	"r.349g>a"	"p.Glu117Lys"	"3"
"0000446877"	"00025394"	"10"	"115"	"-105"	"115"	"-105"	"c.115-105A>G"	"r.(=)"	"p.(=)"	""
"0000446877"	"00021691"	"10"	"115"	"-105"	"115"	"-105"	"c.115-105A>G"	"r.(=)"	"p.(=)"	"1i"
"0000446878"	"00025394"	"10"	"696"	"0"	"696"	"0"	"c.696dup"	"r.(?)"	"p.(Lys233Glufs*4)"	""
"0000446878"	"00021691"	"10"	"639"	"238"	"639"	"238"	"c.639+238dup"	"r.(=)"	"p.(=)"	"6i"
"0000446879"	"00025394"	"10"	"772"	"1002"	"772"	"1002"	"c.772+1002dup"	"r.(?)"	"p.(=)"	""
"0000446879"	"00021691"	"10"	"773"	"-3"	"773"	"-3"	"c.773-3dup"	"r.(=)"	"p.(=)"	"8i"
"0000446880"	"00025394"	"10"	"773"	"-988"	"773"	"-988"	"c.773-988G>A"	"r.(?)"	"p.(=)"	""
"0000446880"	"00021691"	"10"	"863"	"0"	"863"	"0"	"c.*8G>A"	"r.(?)"	"p.(=)"	"9"
"0000446881"	"00025394"	"90"	"271"	"0"	"271"	"0"	"c.271C>G"	"r.(?)"	"p.(Arg91Gly)"	""
"0000446881"	"00021691"	"90"	"271"	"0"	"271"	"0"	"c.271C>G"	"r.(?)"	"p.(Arg91Gly)"	"3"
"0000446882"	"00025394"	"90"	"397"	"0"	"397"	"0"	"c.397C>T"	"r.(?)"	"p.(Arg133Trp)"	""
"0000446882"	"00021691"	"90"	"397"	"0"	"397"	"0"	"c.397C>T"	"r.(?)"	"p.(Arg133Trp)"	"4"
"0000446883"	"00025394"	"90"	"397"	"0"	"397"	"0"	"c.397C>T"	"r.(?)"	"p.(Arg133Trp)"	""
"0000446883"	"00021691"	"90"	"397"	"0"	"397"	"0"	"c.397C>T"	"r.(?)"	"p.(Arg133Trp)"	"4"
"0000446884"	"00025394"	"90"	"415"	"0"	"417"	"0"	"c.415_417del"	"r.(?)"	"p.(Glu139del)"	""
"0000446884"	"00021691"	"90"	"415"	"0"	"417"	"0"	"c.415_417del"	"r.(?)"	"p.(Glu139del)"	"4"
"0000446885"	"00025394"	"90"	"121"	"0"	"121"	"0"	"c.121G>A"	"r.121g>a"	"p.Glu41Lys"	""
"0000446885"	"00021691"	"90"	"121"	"0"	"121"	"0"	"c.121G>A"	"r.121g>a"	"p.Glu41Lys"	"2"
"0000446886"	"00025394"	"90"	"121"	"0"	"121"	"0"	"c.121G>A"	"r.121g>a"	"p.Glu41Lys"	""
"0000446886"	"00021691"	"90"	"121"	"0"	"121"	"0"	"c.121G>A"	"r.121g>a"	"p.Glu41Lys"	"2"
"0000446887"	"00025394"	"90"	"154"	"0"	"156"	"0"	"c.154_156dup"	"r.(?)"	"p.(Gly52dup)"	""
"0000446887"	"00021691"	"90"	"154"	"0"	"156"	"0"	"c.154_156dup"	"r.(?)"	"p.(Gly52dup)"	"2"
"0000446888"	"00025394"	"70"	"240"	"4"	"240"	"7"	"c.240+4_240+7del"	"r.spl?"	"p.(del?)"	""
"0000446888"	"00021691"	"70"	"240"	"4"	"240"	"7"	"c.240+4_240+7del"	"r.spl?"	"p.(del?)"	"2i"
"0000446889"	"00025394"	"50"	"654"	"0"	"656"	"0"	"c.654_656del"	"r.(?)"	"p.(Glu218del)"	""
"0000446889"	"00021691"	"50"	"654"	"0"	"656"	"0"	"c.654_656del"	"r.(?)"	"p.(Glu218del)"	"7"
"0000446890"	"00025394"	"50"	"5"	"0"	"5"	"0"	"c.5A>T"	"r.(?)"	"p.(Asp2Val)"	""
"0000446890"	"00021691"	"50"	"5"	"0"	"5"	"0"	"c.5A>T"	"r.(?)"	"p.(Asp2Val)"	"1"
"0000446891"	"00025394"	"90"	"349"	"0"	"349"	"0"	"c.349G>A"	"r.(?)"	"p.(Glu117Lys)"	""
"0000446891"	"00021691"	"90"	"349"	"0"	"349"	"0"	"c.349G>A"	"r.(?)"	"p.(Glu117Lys)"	"3"
"0000446892"	"00025394"	"50"	"278"	"0"	"278"	"0"	"c.278A>G"	"r.(?)"	"p.(Gln93Arg)"	""
"0000446892"	"00021691"	"50"	"278"	"0"	"278"	"0"	"c.278A>G"	"r.(?)"	"p.(Gln93Arg)"	"3"
"0000446893"	"00025394"	"50"	"772"	"1002"	"772"	"1002"	"c.772+1002C>A"	"r.spl?"	"p.(=)"	""
"0000446893"	"00021691"	"50"	"773"	"-3"	"773"	"-3"	"c.773-3C>A"	"r.spl?"	"p.?"	"8i"
"0000446894"	"00025394"	"10"	"772"	"1002"	"772"	"1002"	"c.772+1002dup"	"r.(?)"	"p.(=)"	""
"0000446894"	"00021691"	"10"	"773"	"-3"	"773"	"-3"	"c.773-3dup"	"r.(?)"	"p.(=)"	"8i"
"0000446895"	"00025394"	"10"	"772"	"1002"	"772"	"1002"	"c.772+1002dup"	"r.(?)"	"p.(=)"	""
"0000446895"	"00021691"	"10"	"773"	"-3"	"773"	"-3"	"c.773-3dup"	"r.(?)"	"p.(=)"	"8i"
"0000446896"	"00025394"	"50"	"240"	"5"	"240"	"5"	"c.240+5G>A"	"r.spl?"	"p.?"	""
"0000446896"	"00021691"	"50"	"240"	"5"	"240"	"5"	"c.240+5G>A"	"r.spl?"	"p.?"	"2i"
"0000446897"	"00025394"	"50"	"20"	"0"	"22"	"0"	"c.20_22del"	"r.(?)"	"p.(Lys7del)"	""
"0000446897"	"00021691"	"50"	"20"	"0"	"22"	"0"	"c.20_22del"	"r.(?)"	"p.(Lys7del)"	"1"
"0000446898"	"00025394"	"70"	"398"	"0"	"398"	"0"	"c.398G>C"	"r.(?)"	"p.(Arg133Pro)"	""
"0000446898"	"00021691"	"70"	"398"	"0"	"398"	"0"	"c.398G>C"	"r.(?)"	"p.(Arg133Pro)"	"4"
"0000446899"	"00025394"	"70"	"240"	"2"	"240"	"2"	"c.240+2T>G"	"r.spl"	"p.?"	""
"0000446899"	"00021691"	"70"	"240"	"2"	"240"	"2"	"c.240+2T>G"	"r.spl"	"p.?"	"2i"
"0000446900"	"00025394"	"90"	"640"	"-193"	"640"	"-193"	"c.640-193C>T"	"r.628c>u"	"p.(=)"	""
"0000446900"	"00021691"	"90"	"628"	"0"	"628"	"0"	"c.628C>T"	"r.628c>u"	"p.Gln210*"	"6"
"0000446901"	"00025394"	"90"	"640"	"-193"	"640"	"-193"	"c.640-193C>T"	"r.628c>u"	"p.(=)"	""
"0000446901"	"00021691"	"90"	"628"	"0"	"628"	"0"	"c.628C>T"	"r.628c>u"	"p.Gln210*"	"6"
"0000446902"	"00025394"	"90"	"640"	"-193"	"640"	"-193"	"c.640-193C>T"	"r.628c>u"	"p.(=)"	""
"0000446902"	"00021691"	"90"	"628"	"0"	"628"	"0"	"c.628C>T"	"r.628c>u"	"p.Gln210*"	"6"
"0000446903"	"00025394"	"10"	"696"	"0"	"696"	"0"	"c.696dup"	"r.(?)"	"p.(Lys233Glufs*4)"	""
"0000446903"	"00021691"	"10"	"639"	"238"	"639"	"238"	"c.639+238dup"	"r.(=)"	"p.(=)"	"6i"
"0000446904"	"00025394"	"10"	"696"	"0"	"696"	"0"	"c.696dup"	"r.(?)"	"p.(Lys233Glufs*4)"	""
"0000446904"	"00021691"	"10"	"639"	"238"	"639"	"238"	"c.639+238dup"	"r.(=)"	"p.(=)"	"6i"
"0000446905"	"00025394"	"10"	"772"	"1002"	"772"	"1002"	"c.772+1002dup"	"r.(?)"	"p.(=)"	""
"0000446905"	"00021691"	"10"	"773"	"-3"	"773"	"-3"	"c.773-3dup"	"r.(?)"	"p.(=)"	"8i"
"0000446906"	"00025394"	"10"	"772"	"1002"	"772"	"1002"	"c.772+1002dup"	"r.(?)"	"p.(=)"	""
"0000446906"	"00021691"	"10"	"773"	"-3"	"773"	"-3"	"c.773-3dup"	"r.(?)"	"p.(=)"	"8i"
"0000446907"	"00025394"	"10"	"115"	"-105"	"115"	"-105"	"c.115-105A>G"	"r.(=)"	"p.(=)"	""
"0000446907"	"00021691"	"10"	"115"	"-105"	"115"	"-105"	"c.115-105A>G"	"r.(=)"	"p.(=)"	"1i"
"0000446908"	"00025394"	"10"	"115"	"-105"	"115"	"-105"	"c.115-105A>G"	"r.(=)"	"p.(=)"	""
"0000446908"	"00021691"	"10"	"115"	"-105"	"115"	"-105"	"c.115-105A>G"	"r.(=)"	"p.(=)"	"1i"
"0000446909"	"00025394"	"10"	"773"	"-988"	"773"	"-988"	"c.773-988G>A"	"r.(?)"	"p.(=)"	""
"0000446909"	"00021691"	"10"	"863"	"0"	"863"	"0"	"c.*8G>A"	"r.(?)"	"p.(=)"	"9"
"0000446910"	"00025394"	"10"	"773"	"-988"	"773"	"-988"	"c.773-988G>A"	"r.(?)"	"p.(=)"	""
"0000446910"	"00021691"	"10"	"863"	"0"	"863"	"0"	"c.*8G>A"	"r.(?)"	"p.(=)"	"9"
"0000446911"	"00025394"	"90"	"349"	"0"	"349"	"0"	"c.349G>C"	"r.(?)"	"p.(Glu117Gln)"	""
"0000446911"	"00021691"	"90"	"349"	"0"	"349"	"0"	"c.349G>C"	"r.(?)"	"p.(Glu117Gln)"	"3"
"0000446912"	"00025394"	"90"	"349"	"0"	"349"	"0"	"c.349G>A"	"r.(?)"	"p.(Glu117Lys)"	""
"0000446912"	"00021691"	"90"	"349"	"0"	"349"	"0"	"c.349G>A"	"r.(?)"	"p.(Glu117Lys)"	"3"
"0000446913"	"00025394"	"50"	"357"	"0"	"357"	"0"	"c.357G>A"	"r.(?)"	"p.(=)"	""
"0000446913"	"00021691"	"50"	"357"	"0"	"357"	"0"	"c.357G>A"	"r.(?)"	"p.(=)"	"3"
"0000446914"	"00025394"	"10"	"639"	"241"	"639"	"241"	"c.639+241dup"	"r.(?)"	"p.(=)"	""
"0000446914"	"00021691"	"10"	"564"	"-16"	"564"	"-16"	"c.564-16dup"	"r.(?)"	"p.(=)"	"5i"
"0000446915"	"00025394"	"10"	"640"	"-149"	"640"	"-149"	"c.640-149G>T"	"r.(?)"	"p.(=)"	""
"0000446915"	"00021691"	"10"	"639"	"33"	"639"	"33"	"c.639+33G>T"	"r.(?)"	"p.(=)"	"6i"
"0000446916"	"00025394"	"10"	"772"	"1001"	"772"	"1002"	"c.772+1001_772+1002dup"	"r.(?)"	"p.(=)"	""
"0000446916"	"00021691"	"10"	"773"	"-4"	"773"	"-3"	"c.773-4_773-3dup"	"r.(?)"	"p.(=)"	"8i"
"0000446917"	"00025394"	"10"	"772"	"1002"	"772"	"1002"	"c.772+1002dup"	"r.(?)"	"p.(=)"	""
"0000446917"	"00021691"	"10"	"773"	"-3"	"773"	"-3"	"c.773-3dup"	"r.(?)"	"p.(=)"	"8i"
"0000446918"	"00025394"	"10"	"773"	"-989"	"773"	"-989"	"c.773-989C>T"	"r.(?)"	"p.(=)"	""
"0000446918"	"00021691"	"10"	"862"	"0"	"862"	"0"	"c.*7C>T"	"r.(?)"	"p.(=)"	"9"
"0000446919"	"00025394"	"10"	"773"	"-988"	"773"	"-988"	"c.773-988G>A"	"r.(?)"	"p.(=)"	""
"0000446919"	"00021691"	"10"	"863"	"0"	"863"	"0"	"c.*8G>A"	"r.(?)"	"p.(=)"	"9"
"0000446920"	"00025394"	"70"	"478"	"0"	"478"	"0"	"c.478C>T"	"r.(?)"	"p.(Arg160Cys)"	""
"0000446920"	"00021691"	"70"	"478"	"0"	"478"	"0"	"c.478C>T"	"r.(?)"	"p.(Arg160Cys)"	"4"
"0000446921"	"00025394"	"70"	"530"	"0"	"530"	"0"	"c.530A>T"	"r.(?)"	"p.(Glu177Val)"	""
"0000446921"	"00021691"	"70"	"530"	"0"	"530"	"0"	"c.530A>T"	"r.(?)"	"p.(Glu177Val)"	"5"
"0000446922"	"00025394"	"50"	"240"	"2"	"240"	"2"	"c.240+2T>G"	"r.spl"	"p.?"	""
"0000446922"	"00021691"	"50"	"240"	"2"	"240"	"2"	"c.240+2T>G"	"r.spl"	"p.?"	"2i"
"0000446923"	"00025394"	"50"	"240"	"5"	"240"	"5"	"c.240+5G>A"	"r.spl?"	"p.?"	""
"0000446923"	"00021691"	"50"	"240"	"5"	"240"	"5"	"c.240+5G>A"	"r.spl?"	"p.?"	"3i"
"0000446924"	"00025394"	"50"	"8"	"0"	"8"	"0"	"c.8C>G"	"r.(?)"	"p.(Ala3Gly)"	""
"0000446924"	"00021691"	"50"	"8"	"0"	"8"	"0"	"c.8C>G"	"r.(?)"	"p.(Ala3Gly)"	"1"
"0000446925"	"00025394"	"70"	"279"	"0"	"279"	"0"	"c.279G>C"	"r.(?)"	"p.(Gln93His)"	""
"0000446925"	"00021691"	"70"	"279"	"0"	"279"	"0"	"c.279G>C"	"r.(?)"	"p.(Gln93His)"	"3"
"0000446926"	"00025394"	"70"	"382"	"0"	"382"	"0"	"c.382A>G"	"r.(?)"	"p.(Lys128Glu)"	""
"0000446926"	"00021691"	"70"	"382"	"0"	"382"	"0"	"c.382A>G"	"r.(?)"	"p.(Lys128Glu)"	"4"
"0000446927"	"00025394"	"70"	"398"	"0"	"398"	"0"	"c.398G>C"	"r.(?)"	"p.(Arg133Pro)"	""
"0000446927"	"00021691"	"70"	"398"	"0"	"398"	"0"	"c.398G>C"	"r.(?)"	"p.(Arg133Pro)"	"4"
"0000446928"	"00025394"	"70"	"428"	"0"	"428"	"0"	"c.428T>C"	"r.(?)"	"p.(Leu143Pro)"	""
"0000446928"	"00021691"	"70"	"428"	"0"	"428"	"0"	"c.428T>C"	"r.(?)"	"p.(Leu143Pro)"	"4"
"0000446929"	"00025394"	"70"	"443"	"0"	"443"	"0"	"c.443T>C"	"r.(?)"	"p.(Leu148Pro)"	""
"0000446929"	"00021691"	"70"	"443"	"0"	"443"	"0"	"c.443T>C"	"r.(?)"	"p.(Leu148Pro)"	"4"
"0000446930"	"00025394"	"50"	"772"	"1034"	"772"	"1034"	"c.772+1034A>G"	"r.(?)"	"p.(=)"	""
"0000446930"	"00021691"	"50"	"802"	"0"	"802"	"0"	"c.802A>G"	"r.(?)"	"p.(Lys268Glu)"	"9"
"0000446931"	"00025394"	"70"	"181"	"0"	"181"	"0"	"c.181T>C"	"r.(?)"	"p.(Ser61Pro)"	""
"0000446931"	"00021691"	"70"	"181"	"0"	"181"	"0"	"c.181T>C"	"r.(?)"	"p.(Ser61Pro)"	"2"
"0000446932"	"00025394"	"70"	"464"	"0"	"464"	"0"	"c.464C>T"	"r.(?)"	"p.(Ala155Val)"	""
"0000446932"	"00021691"	"70"	"464"	"0"	"464"	"0"	"c.464C>T"	"r.(?)"	"p.(Ala155Val)"	"4"
"0000446933"	"00025394"	"10"	"699"	"0"	"699"	"0"	"c.699G>T"	"r.(?)"	"p.(Lys233Asn)"	""
"0000446933"	"00021691"	"10"	"699"	"0"	"699"	"0"	"c.699G>T"	"r.(?)"	"p.(Lys233Asn)"	"7"
"0000446934"	"00025394"	"10"	"773"	"-1034"	"773"	"-1034"	"c.773-1034G>A"	"r.(=)"	"p.(=)"	""
"0000446934"	"00021691"	"10"	"817"	"0"	"817"	"0"	"c.817G>A"	"r.(?)"	"p.(Glu273Lys)"	""
"0000474792"	"00025394"	"50"	"229"	"0"	"231"	"0"	"c.229_231del"	"r.(?)"	"p.Lys77del"	""
"0000538113"	"00025394"	"90"	"772"	"1014"	"772"	"1014"	"c.772+1014A>G"	"r.(=)"	"p.(=)"	""
"0000538113"	"00021691"	"90"	"782"	"0"	"782"	"0"	"c.782A>G"	"r.(?)"	"p.(Tyr261Cys)"	""
"0000538114"	"00025394"	"10"	"772"	"1001"	"772"	"1002"	"c.772+1001_772+1002insA"	"r.(=)"	"p.(=)"	""
"0000538114"	"00021691"	"10"	"773"	"-4"	"773"	"-3"	"c.773-4_773-3insA"	"r.spl?"	"p.?"	""
"0000538115"	"00025394"	"10"	"772"	"1000"	"772"	"1002"	"c.772+1000_772+1002dup"	"r.(=)"	"p.(=)"	""
"0000538115"	"00021691"	"10"	"773"	"-5"	"773"	"-3"	"c.773-5_773-3dup"	"r.spl?"	"p.?"	""
"0000538116"	"00025394"	"10"	"772"	"1001"	"772"	"1002"	"c.772+1001_772+1002dup"	"r.(=)"	"p.(=)"	""
"0000538116"	"00021691"	"10"	"773"	"-4"	"773"	"-3"	"c.773-4_773-3dup"	"r.spl?"	"p.?"	""
"0000538118"	"00025394"	"10"	"639"	"238"	"639"	"238"	"c.639+238dup"	"r.(=)"	"p.(=)"	""
"0000538118"	"00021691"	"10"	"564"	"-19"	"564"	"-19"	"c.564-19dup"	"r.(=)"	"p.(=)"	""
"0000656351"	"00025394"	"50"	"271"	"0"	"271"	"0"	"c.271C>T"	"r.(?)"	"p.(Arg91Cys)"	""
"0000656351"	"00021691"	"50"	"271"	"0"	"271"	"0"	"c.271C>T"	"r.(?)"	"p.(Arg91Cys)"	""
"0000675282"	"00021691"	"90"	"20"	"0"	"22"	"0"	"c.20_22del"	"r.(?)"	"p.(Lys7del)"	""
"0000675321"	"00021691"	"90"	"541"	"0"	"541"	"0"	"c.541G>A"	"r.(?)"	"p.(Glu181Lys)"	""
"0000675326"	"00021691"	"90"	"463"	"0"	"463"	"0"	"c.463G>A"	"r.(?)"	"p.(Ala155Thr)"	""
"0000697746"	"00025394"	"70"	"397"	"0"	"397"	"0"	"c.397C>T"	"r.(?)"	"p.(Arg133Trp)"	""
"0000722516"	"00025394"	"70"	"772"	"1014"	"772"	"1014"	"c.772+1014A>G"	"r.(=)"	"p.(=)"	""
"0000722516"	"00021691"	"70"	"782"	"0"	"782"	"0"	"c.782A>G"	"r.(?)"	"p.(Tyr261Cys)"	""
"0000722517"	"00025394"	"50"	"272"	"0"	"272"	"0"	"c.272G>A"	"r.(?)"	"p.(Arg91His)"	""
"0000722517"	"00021691"	"50"	"272"	"0"	"272"	"0"	"c.272G>A"	"r.(?)"	"p.(Arg91His)"	""
"0000832975"	"00021691"	"90"	"613"	"0"	"613"	"0"	"c.613A>G"	"r.(?)"	"p.(Lys205Glu)"	""
"0000833073"	"00021691"	"70"	"415"	"0"	"417"	"0"	"c.415_417del"	"r.(?)"	"p.(Glu139del)"	""
"0000880813"	"00021691"	"90"	"20"	"0"	"22"	"0"	"c.20_22del"	"r.(?)"	"p.(Lys7del)"	""
"0000881331"	"00025394"	"70"	"773"	"-2"	"773"	"-2"	"c.773-2A>C"	"r.spl?"	"p.?"	""
"0000881331"	"00021691"	"70"	"1849"	"0"	"1849"	"0"	"c.*994A>C"	"r.(=)"	"p.(=)"	""
"0000888835"	"00025394"	"30"	"772"	"1001"	"772"	"1002"	"c.772+1001_772+1002dup"	"r.(=)"	"p.(=)"	""
"0000888835"	"00021691"	"30"	"773"	"-4"	"773"	"-3"	"c.773-4_773-3dup"	"r.spl?"	"p.?"	""
"0000913156"	"00025394"	"30"	"772"	"997"	"772"	"997"	"c.772+997C>A"	"r.(=)"	"p.(=)"	""
"0000913156"	"00021691"	"30"	"773"	"-8"	"773"	"-8"	"c.773-8C>A"	"r.(=)"	"p.(=)"	""
"0000946040"	"00021691"	"90"	"415"	"0"	"417"	"0"	"c.415_417del"	"r.(?)"	"p.(Glu139del)"	""
"0000949281"	"00025394"	"10"	"772"	"1001"	"772"	"1002"	"c.772+1001_772+1002insA"	"r.(=)"	"p.(=)"	""
"0000949281"	"00021691"	"10"	"773"	"-4"	"773"	"-3"	"c.773-4_773-3insA"	"r.spl?"	"p.?"	""
"0000949282"	"00025394"	"90"	"364"	"0"	"364"	"0"	"c.364G>A"	"r.(?)"	"p.(Glu122Lys)"	""
"0000949282"	"00021691"	"90"	"364"	"0"	"364"	"0"	"c.364G>A"	"r.(?)"	"p.(Glu122Lys)"	""
"0000997860"	"00025394"	"30"	"493"	"0"	"493"	"0"	"c.493G>A"	"r.(?)"	"p.(Val165Met)"	""
"0000997860"	"00021691"	"30"	"493"	"0"	"493"	"0"	"c.493G>A"	"r.(?)"	"p.(Val165Met)"	""
"0000997861"	"00025394"	"30"	"356"	"0"	"356"	"0"	"c.356C>T"	"r.(?)"	"p.(Ala119Val)"	""
"0000997861"	"00021691"	"30"	"356"	"0"	"356"	"0"	"c.356C>T"	"r.(?)"	"p.(Ala119Val)"	""
"0000997862"	"00025394"	"50"	"226"	"0"	"226"	"0"	"c.226A>C"	"r.(?)"	"p.(Lys76Gln)"	""
"0000997862"	"00021691"	"50"	"226"	"0"	"226"	"0"	"c.226A>C"	"r.(?)"	"p.(Lys76Gln)"	""
"0000997863"	"00025394"	"30"	"56"	"0"	"56"	"0"	"c.56T>C"	"r.(?)"	"p.(Ile19Thr)"	""
"0000997863"	"00021691"	"30"	"56"	"0"	"56"	"0"	"c.56T>C"	"r.(?)"	"p.(Ile19Thr)"	""
"0001037513"	"00025394"	"30"	"772"	"995"	"772"	"996"	"c.772+995_772+996insGC"	"r.(=)"	"p.(=)"	""
"0001037513"	"00021691"	"30"	"773"	"-10"	"773"	"-9"	"c.773-10_773-9insGC"	"r.(=)"	"p.(=)"	""
"0001053247"	"00025394"	"50"	"635"	"0"	"635"	"0"	"c.635A>G"	"r.(?)"	"p.(Glu212Gly)"	""
"0001053247"	"00021691"	"50"	"563"	"201"	"563"	"201"	"c.563+201A>G"	"r.(=)"	"p.(=)"	""


## Screenings_To_Variants ## Do not remove or alter this header ##
## Count = 87
"{{screeningid}}"	"{{variantid}}"
"0000037325"	"0000064450"
"0000037326"	"0000064451"
"0000155777"	"0000355556"
"0000155778"	"0000355557"
"0000155779"	"0000355558"
"0000155780"	"0000355559"
"0000155781"	"0000355560"
"0000155782"	"0000355561"
"0000155783"	"0000355562"
"0000155784"	"0000355563"
"0000155785"	"0000355564"
"0000155786"	"0000355565"
"0000155787"	"0000355566"
"0000155788"	"0000355567"
"0000155789"	"0000355568"
"0000214562"	"0000446871"
"0000214563"	"0000446872"
"0000214564"	"0000446873"
"0000214565"	"0000446874"
"0000214566"	"0000446875"
"0000214567"	"0000446876"
"0000214568"	"0000446877"
"0000214569"	"0000446878"
"0000214570"	"0000446879"
"0000214571"	"0000446880"
"0000214572"	"0000446881"
"0000214573"	"0000446882"
"0000214574"	"0000446883"
"0000214575"	"0000446884"
"0000214576"	"0000446885"
"0000214577"	"0000446886"
"0000214578"	"0000446887"
"0000214579"	"0000446888"
"0000214580"	"0000446889"
"0000214581"	"0000446890"
"0000214582"	"0000446891"
"0000214583"	"0000446892"
"0000214584"	"0000446893"
"0000214584"	"0000446894"
"0000214584"	"0000446895"
"0000214585"	"0000446896"
"0000214586"	"0000446897"
"0000214587"	"0000446898"
"0000214588"	"0000446899"
"0000214589"	"0000446900"
"0000214589"	"0000446901"
"0000214590"	"0000446902"
"0000214591"	"0000446903"
"0000214591"	"0000446904"
"0000214592"	"0000446905"
"0000214592"	"0000446906"
"0000214593"	"0000446907"
"0000214593"	"0000446908"
"0000214594"	"0000446909"
"0000214594"	"0000446910"
"0000214595"	"0000446911"
"0000214596"	"0000446912"
"0000214597"	"0000446913"
"0000214598"	"0000446914"
"0000214599"	"0000446915"
"0000214600"	"0000446916"
"0000214601"	"0000446917"
"0000214602"	"0000446918"
"0000214603"	"0000446919"
"0000214604"	"0000446920"
"0000214605"	"0000446921"
"0000214606"	"0000446922"
"0000214607"	"0000446923"
"0000214608"	"0000446924"
"0000214609"	"0000446925"
"0000214610"	"0000446926"
"0000214611"	"0000446927"
"0000214612"	"0000446928"
"0000214613"	"0000446929"
"0000214614"	"0000446930"
"0000214615"	"0000446931"
"0000214616"	"0000446932"
"0000232391"	"0000474792"
"0000308324"	"0000675282"
"0000308363"	"0000675321"
"0000308368"	"0000675326"
"0000315657"	"0000697746"
"0000400200"	"0000832975"
"0000400266"	"0000833073"
"0000420476"	"0000880813"
"0000420784"	"0000881331"
"0000444183"	"0000946040"