### LOVD-version 3000-30b ### Full data download ### To import, do not remove or alter this header ### ## Filter: (gene_public = TMEM127) # 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}}" "TMEM127" "transmembrane protein 127" "2" "q11.2" "unknown" "NG_027695.1" "UD_132085384004" "" "http://www.LOVD.nl/TMEM127" "" "1" "26038" "55654" "613403" "1" "1" "1" "1" "Establishment of this gene variant database (LSDB) was supported by the Leiden University Medical Center (LUMC), Leiden, Nederland." "" "g" "http://databases.lovd.nl/shared/refseq/TMEM127_codingDNA.html" "1" "" "" "-1" "" "-1" "00001" "2013-05-03 00:00:00" "00006" "2016-11-25 10:32:25" "00000" "2025-10-09 17:00:03" ## Transcripts ## Do not remove or alter this header ## ## Count = 1 "{{id}}" "{{geneid}}" "{{name}}" "{{id_mutalyzer}}" "{{id_ncbi}}" "{{id_ensembl}}" "{{id_protein_ncbi}}" "{{id_protein_ensembl}}" "{{id_protein_uniprot}}" "{{remarks}}" "{{position_c_mrna_start}}" "{{position_c_mrna_end}}" "{{position_c_cds_end}}" "{{position_g_mrna_start}}" "{{position_g_mrna_end}}" "{{created_by}}" "{{created_date}}" "{{edited_by}}" "{{edited_date}}" "00021364" "TMEM127" "transcript variant 1" "002" "NM_017849.3" "" "NP_060319.1" "" "" "" "-276" "4317" "717" "96931751" "96915946" "" "0000-00-00 00:00:00" "" "" ## Diseases ## Do not remove or alter this header ## ## Count = 6 "{{id}}" "{{symbol}}" "{{name}}" "{{inheritance}}" "{{id_omim}}" "{{tissues}}" "{{features}}" "{{remarks}}" "{{created_by}}" "{{created_date}}" "{{edited_by}}" "{{edited_date}}" "00198" "?" "unclassified / mixed" "" "" "" "" "" "00006" "2013-09-13 14:21:47" "00006" "2024-11-23 09:38:12" "00764" "RCC" "carcinoma, renal cell (RCC)" "" "" "" "" "" "00006" "2014-09-25 23:29:40" "00006" "2015-12-08 23:50:05" "01503" "pheochromocytoma" "pheochromocytoma (susceptibility to)" "AD" "171300" "cerebral cortex" "" "" "00006" "2014-09-25 23:29:40" "00006" "2024-01-04 19:51:33" "03097" "ES" "sarcoma, Ewing\'s" "" "612219" "" "" "" "00006" "2014-09-25 23:29:40" "00006" "2021-12-10 21:51:32" "05085" "PGL" "paraganglioma (PGL)" "" "" "" "" "" "00006" "2015-10-23 11:34:02" "00006" "2015-12-08 23:53:58" "05090" "PMA" "adenoma, pituitary (PMA, macroadenoma)" "" "" "" "" "" "00006" "2015-10-23 12:33:44" "00006" "2015-10-23 12:34:12" ## Genes_To_Diseases ## Do not remove or alter this header ## ## Count = 1 "{{geneid}}" "{{diseaseid}}" "TMEM127" "01503" ## Individuals ## Do not remove or alter this header ## ## Count = 84 "{{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}}" "00037241" "" "" "" "1" "" "01164" "" "" "" "" "Germany" "" "0" "" "" "" "" "00037242" "" "" "" "1" "" "01164" "" "" "" "" "Germany" "" "0" "" "" "" "" "00096031" "" "" "" "1" "" "01667" "{PMID:Qin 2010:20154675}" "" "F" "no" "" "" "0" "yes" "surgery" "white" "" "00100332" "" "" "" "4" "" "01899" "{PMID:Hernandez 2015:25800244}, {DOI:Hernandez 2015:10.1007/s00428-015-1755-2}" "2-generation family, affected mother and 3 heterozygous carrier sons" "F" "?" "Canada" "" "0" "" "left adrenalectomy and partial nephrectomy" "" "25800244-FamProband" "00103956" "" "" "" "1" "" "01899" "{PMID:Yao 2010:21156949}" "" "F" "" "United States" "" "0" "" "" "" "15_PD" "00103957" "" "" "" "1" "" "01899" "{PMID:Yao 2010:21156949}" "" "F" "" "United States" "" "0" "" "" "" "9_PD" "00103958" "" "" "" "1" "" "01899" "{PMID:Yao 2010:21156949}" "" "F" "" "United States" "" "0" "" "" "" "2_PD" "00164780" "" "" "" "1" "" "02345" "{PMID:Yao 2010:21156949}" "" "M" "" "United Kingdom (Great Britain)" "" "0" "" "" "" "" "00164782" "" "" "" "1" "" "02345" "{PMID:Yao 2010:21156949}" "" "F" "" "Italy" "" "0" "" "" "" "" "00164783" "" "" "" "1" "" "02345" "{PMID:Yao 2010:21156949}" "" "M" "" "Italy" "" "0" "" "" "" "" "00164784" "" "" "" "1" "" "02345" "{DOI:King 2015:10.1530/ERC-15-0101}" "" "M" "" "" "" "0" "" "" "" "" "00164785" "" "" "" "1" "" "02345" "{PMID:Yao 2010:21156949}" "" "F" "" "Brazil" "" "0" "" "" "" "" "00164786" "" "" "" "1" "" "02345" "{PMID:Qin 2010:20154675}" "" "F" "" "" "" "0" "" "" "" "" "00164787" "" "" "" "1" "" "02345" "{PMID:Qin 2010:24334765}" "" "M" "" "" "" "0" "" "" "" "" "00164788" "" "" "" "1" "" "02345" "{PMID:Yao 2010:21156949}" "" "" "" "Italy" "" "0" "" "" "" "" "00164789" "" "" "" "1" "" "02345" "{PMID:Qin 2010:20154675 }" "" "F" "" "" "" "0" "" "" "" "" "00164790" "" "" "" "1" "" "02345" "{PMID:Qin 2010:20154675}" "" "M" "" "" "" "0" "" "" "" "" "00164791" "" "" "" "1" "" "02345" "{PMID:Qin 2010:20154675}" "" "F" "" "" "" "0" "" "" "" "" "00164792" "" "" "" "1" "" "02345" "{DOI:King 2015:10.1530/ERC-15-0101}" "" "M" "" "" "" "0" "" "" "" "" "00164793" "" "" "" "1" "" "02345" "{PMID:Qin 2014:24334765}" "" "M" "" "" "" "0" "" "" "" "" "00164794" "" "" "" "1" "" "02345" "{PMID:Qin 2014:24334765}" "" "F" "" "" "" "0" "" "" "" "" "00164795" "" "" "" "1" "" "02345" "{PMID:Yao 2010:20154675}" "" "F" "" "Spain" "" "0" "" "" "" "" "00164797" "" "" "" "1" "" "02345" "{PMID:Qin 2010:20154675}" "" "F" "" "" "" "0" "" "" "" "" "00164798" "" "" "" "1" "" "02345" "{PMID:Qin 2010:20154675}" "" "F" "" "" "" "0" "" "" "" "" "00164799" "" "" "" "1" "" "02345" "{PMID:Yao 2010:21156949 }" "" "F" "" "Belgium" "" "0" "" "" "" "" "00164800" "" "" "" "1" "" "02345" "{PMID:Yao 2010:21156949 }" "" "M" "" "Italy" "" "0" "" "" "" "" "00164803" "" "" "" "1" "" "02345" "{PMID:Yao 2010:21156949 }" "" "F" "" "Italy" "" "0" "" "" "" "" "00164806" "" "" "" "1" "" "02345" "{PMID:Qin 2010:20154675}" "" "F" "" "" "" "0" "" "" "" "" "00164807" "" "" "" "1" "" "02345" "{DOI:Deng 2017:10.1530/ERC-17-0359}" "" "F" "" "" "" "0" "" "" "" "" "00164808" "" "" "" "1" "" "02345" "{PMID:Yao 2010:21156949}" "" "F" "" "Italy" "" "0" "" "" "" "" "00164809" "" "" "" "1" "" "02345" "{PMID:Lefebvre 2012:22517554}" "" "?" "" "" "" "0" "" "" "" "" "00164811" "" "" "" "1" "" "02345" "{PMID:Bausch 2017:28384794}" "" "F" "" "United States" "" "0" "" "" "" "" "00164812" "" "" "" "1" "" "02345" "{PMID:Bausch 2017:28384794}" "" "M" "" "United States" "" "0" "" "" "" "" "00164813" "" "" "" "1" "" "02345" "{PMID:Bausch 2017:28384794}" "" "F" "" "Germany" "" "0" "" "" "" "" "00164814" "" "" "" "1" "" "02345" "{PMID:Bausch 2017:28384794}" "" "" "" "(United States)" "" "0" "" "" "" "" "00164815" "" "" "" "1" "" "02345" "{PMID:Bausch 2017:28384794}" "" "M" "" "Germany" "" "0" "" "" "" "" "00164816" "" "" "" "1" "" "02345" "{PMID:Flinn 2016:26796762}" "" "" "" "" "" "0" "" "" "" "" "00165105" "" "" "" "1" "" "02345" "{PMID:Gupta 2017:28646318}" "" "?" "" "" "" "0" "" "" "" "" "00165106" "" "" "" "1" "" "02345" "{PMID:Lefebvre 2012:22517554}" "" "?" "" "" "" "0" "" "" "" "" "00165107" "" "" "" "1" "" "02345" "{PMID:Gupta 2017:28646318}" "" "?" "" "" "" "0" "" "" "" "" "00165108" "" "" "" "1" "" "02345" "{PMID:Papathomas 2015:25720320}" "" "F" "" "" "" "0" "" "" "" "" "00165109" "" "" "" "1" "" "02345" "{PMID:Takeichi 2012:22541004}" "" "M" "" "" "" "0" "" "" "" "" "00165110" "" "" "" "1" "" "02345" "{PMID:Takeichi 2012:22541004}" "" "M" "" "" "" "0" "" "" "" "" "00165111" "" "" "" "1" "" "02345" "{PMID:Papathomas 2015:25720320}" "" "F" "" "" "" "0" "" "" "" "" "00165112" "" "" "" "1" "" "02345" "{PMID:Bausch 2017:28384794}" "" "F" "" "Poland" "" "0" "" "" "" "" "00165113" "" "" "" "1" "" "02345" "{PMID:Burnichon 2012:22962301}" "" "F" "" "" "" "0" "" "" "" "" "00165114" "" "" "" "1" "" "02345" "{PMID:Hamidi 2017:28605453}" "" "M" "" "" "" "0" "" "" "" "" "00165132" "" "" "" "1" "" "02345" "{PMID:Abermil 2012:22419703}" "" "F" "" "" "" "0" "" "" "" "" "00165133" "" "" "" "1" "" "02345" "{PMID:Abermil 2012:22419703}" "" "F" "" "" "" "0" "" "" "" "" "00165134" "" "" "" "1" "" "02345" "{PMID:Bausch 2017:28384794}" "" "F" "" "Germany" "" "0" "" "" "" "" "00165135" "" "" "" "1" "" "02345" "{PMID:Papathomas 2015:25720320}" "" "M" "" "" "" "0" "" "" "" "" "00165136" "" "" "" "1" "" "02345" "{PMID:Casey 2017:28973655}" "" "M" "" "" "" "0" "" "" "" "" "00165137" "" "" "" "1" "" "02345" "{PMID:Fishbein 2017:28162975}" "" "M" "" "" "" "0" "" "" "" "" "00165162" "" "" "" "1" "" "02345" "{PMID:Gupta 2017:28646318}" "" "?" "" "" "" "0" "" "" "" "" "00165163" "" "" "" "1" "" "02345" "{PMID:Abermil 2012:22419703}" "" "M" "" "" "" "0" "" "" "" "" "00165164" "" "" "" "1" "" "02345" "{PMID:Lefebvre 2012:22517554}" "" "?" "" "" "" "0" "" "" "" "" "00165165" "" "" "" "1" "" "02345" "{PMID:Hernandez 2015:25800244}" "" "F" "" "" "" "0" "" "" "" "" "00165166" "" "" "" "1" "" "02345" "{PMID:Papathomas 2015:25720320}" "" "F" "" "" "" "0" "" "" "" "" "00165167" "" "" "" "1" "" "02345" "{PMID:Bausch 2017:28384794}" "" "F" "" "Germany" "" "0" "" "" "" "" "00165168" "" "" "" "1" "" "02345" "{PMID:Bausch 2017:28384794}" "" "M" "" "Germany" "" "0" "" "" "" "" "00165169" "" "" "" "1" "" "02345" "{PMID:Bausch 2017:28384794}" "" "M" "" "Germany" "" "0" "" "" "" "" "00165170" "" "" "" "1" "" "02345" "{PMID:Elston 2013:23551308}" "" "M" "" "" "" "0" "" "" "" "" "00165171" "" "" "" "1" "" "02345" "{PMID:Lefebvre 2012:22517554}" "" "?" "" "" "" "0" "" "" "" "" "00165172" "" "" "" "1" "" "02345" "{PMID:Patocs 2016:26960314}" "" "?" "" "" "" "0" "" "" "" "" "00165173" "" "" "" "1" "" "02345" "{PMID:Bausch 2017:28384794}" "" "F" "" "Hungary" "" "0" "" "" "" "" "00165174" "" "" "" "1" "" "02345" "{PMID:Bausch 2017:28384794}" "" "" "" "Germany" "" "0" "" "" "" "" "00165202" "" "" "" "1" "" "02345" "{PMID:Patocs 2016:26960314}" "" "?" "" "" "" "0" "" "" "" "" "00165203" "" "" "" "1" "" "02345" "{PMID:Bausch 2017:28384794}" "" "F" "" "Hungary" "" "0" "" "" "" "" "00165204" "" "" "" "1" "" "02345" "{PMID:Lefebvre 2012:22517554}" "" "" "" "" "" "0" "" "" "" "" "00165205" "" "" "" "1" "" "02345" "{PMID:Abermil 2012:22419703}" "" "M" "" "" "" "0" "" "" "" "" "00165206" "" "" "" "1" "" "02345" "{PMID:Abermil 2012:22419703}" "" "F" "" "" "" "0" "" "" "" "" "00165207" "" "" "" "1" "" "02345" "{PMID:Bausch 2017:28384794}" "" "F" "" "Germany" "" "0" "" "" "" "" "00165208" "" "" "" "1" "" "02345" "{PMID:Bausch 2017:28384794}" "" "F" "" "Poland" "" "0" "" "" "" "" "00165209" "" "" "" "1" "" "02345" "{PMID:Bausch 2017:28384794}" "" "F" "" "Israel" "" "0" "" "" "" "" "00165210" "" "" "" "1" "" "02345" "{PMID:Bausch 2017:28384794}" "" "F" "" "Turkey" "" "0" "" "" "" "" "00165212" "" "" "" "1" "" "02345" "{PMID:Bausch 2017:28384794}" "" "F" "" "Germany" "" "0" "" "" "" "" "00165213" "" "" "" "1" "" "02345" "{PMID:Bausch 2017:28384794}" "" "F" "" "Turkey" "" "0" "" "" "" "" "00165214" "" "" "" "1" "" "02345" "{PMID:Bausch 2017:28384794}" "" "F" "" "Hungary" "" "0" "" "" "" "" "00165215" "" "" "" "1" "" "02345" "{PMID:Bausch 2017:28384794}" "" "F" "" "Sweden" "" "0" "" "" "" "" "00165216" "" "" "" "1" "" "02345" "{PMID:Patocs 2016:26960314}" "" "?" "" "" "" "0" "" "" "" "" "00165217" "" "" "" "1" "" "02345" "{PMID:Yu 2017:28567294}" "" "F" "" "" "" "0" "" "" "" "" "00165218" "" "" "" "1" "" "02345" "{PMID:Welander 2014:24694336}" "" "F" "" "" "" "0" "" "" "" "" "00234343" "" "" "" "1" "" "00489" "{DOI:Fernández-Pombo2019:10.1155/2019/2502174}" "3-generation family, affected mother and 2 unaffected carrier children (9y, 6y)" "F" "no" "Spain" "40y" "0" "" "" "white" "" "00292854" "" "" "" "1" "" "03575" "{PMID:Narang 2020:32906206}, {DOI:Narang 2020:10.1002/humu.24102}" "analysis 2794 individuals (India)" "" "" "India" "" "0" "" "" "" "" ## Individuals_To_Diseases ## Do not remove or alter this header ## ## Count = 84 "{{individualid}}" "{{diseaseid}}" "00037242" "00198" "00096031" "01503" "00100332" "00764" "00100332" "01503" "00103956" "01503" "00103957" "01503" "00103958" "01503" "00164780" "01503" "00164782" "01503" "00164783" "01503" "00164784" "03097" "00164785" "01503" "00164786" "01503" "00164787" "00764" "00164788" "01503" "00164789" "01503" "00164790" "01503" "00164791" "01503" "00164792" "05090" "00164793" "00764" "00164794" "00764" "00164795" "01503" "00164797" "01503" "00164798" "01503" "00164799" "01503" "00164800" "01503" "00164803" "01503" "00164806" "01503" "00164807" "01503" "00164808" "01503" "00164809" "01503" "00164811" "01503" "00164812" "01503" "00164813" "01503" "00164814" "01503" "00164815" "01503" "00164816" "01503" "00165105" "05085" "00165106" "01503" "00165107" "05085" "00165108" "01503" "00165109" "01503" "00165110" "01503" "00165111" "01503" "00165112" "01503" "00165113" "01503" "00165114" "05085" "00165132" "01503" "00165133" "01503" "00165134" "01503" "00165135" "01503" "00165136" "01503" "00165137" "01503" "00165162" "00764" "00165163" "01503" "00165164" "01503" "00165165" "01503" "00165166" "01503" "00165167" "05085" "00165168" "01503" "00165169" "05085" "00165170" "01503" "00165171" "01503" "00165172" "01503" "00165173" "01503" "00165174" "01503" "00165202" "01503" "00165203" "01503" "00165204" "01503" "00165205" "01503" "00165206" "01503" "00165207" "01503" "00165208" "01503" "00165209" "01503" "00165210" "01503" "00165212" "05085" "00165213" "01503" "00165214" "01503" "00165215" "01503" "00165216" "01503" "00165217" "01503" "00165218" "01503" "00234343" "01503" "00292854" "00198" ## Phenotypes ## Do not remove or alter this header ## ## Note: Only showing Phenotype columns active for Diseases 00198, 00764, 01503, 03097, 05085, 05090 ## Count = 81 "{{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/Cancer/Sub_type}}" "{{Phenotype/Diagnosis/Definite}}" "{{Phenotype/Diagnosis/Initial}}" "{{Phenotype/Diagnosis/Criteria}}" "0000067731" "00198" "00037242" "01164" "Unknown" "" "suspected neurinom BWS, developmental delay, paraganglioma, pheochromocytoma" "" "" "" "" "" "" "" "" "" "" "" "" "0000078454" "01503" "00096031" "00006" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000078554" "01503" "00100332" "01899" "Familial" "47y" "multifocal PHEOs, biochemical phenotype predominantly adrenergic, ccRCC; sons carrying variant had ephelides in their lips; sons (23y/22y) currently normal urinary/plasma metanephrines, unremarkable abdominal MRI except tiny right renal cyst oldest son" "" "47y" "" "" "" "" "" "" "PCC" "" "" "" "0000081889" "01503" "00103957" "01899" "Familial" "" "benign adrenal tumor, LOH in tumor" "" "50y" "" "" "" "" "" "" "PCC" "" "" "" "0000081890" "01503" "00103958" "01899" "Unknown" "" "benign adrenal tumor, no family history, acrocyanosis" "" "61y" "" "" "" "" "" "" "PCC" "" "" "" "0000081898" "01503" "00103956" "00006" "Unknown" "" "no family history, benign adrenal tumor, tumor DNA not tested for LOH" "" "43y" "" "" "" "" "" "" "" "" "" "" "0000129798" "01503" "00164780" "02345" "Isolated (sporadic)" "" "" "" "44y" "" "" "" "" "" "" "PCC" "" "" "" "0000129799" "01503" "00164782" "02345" "Isolated (sporadic)" "" "" "" "37y" "" "" "" "" "" "" "PCC" "" "" "" "0000129801" "01503" "00164783" "02345" "Isolated (sporadic)" "" "Bone marrow failure" "" "21y" "" "" "" "" "" "" "PCC" "" "" "" "0000129802" "03097" "00164784" "02345" "Isolated (sporadic)" "" "" "" "13y" "" "" "" "" "" "" "" "" "" "" "0000129803" "01503" "00164785" "02345" "Isolated (sporadic)" "" "Macrovascular disease" "" "34y" "" "" "" "" "" "" "PCC" "" "" "" "0000129804" "01503" "00164786" "02345" "Unknown" "" "" "" "25y" "" "" "" "" "" "" "PCC" "" "" "" "0000129805" "01503" "00164788" "02345" "Isolated (sporadic)" "" "" "" "44y" "" "" "" "" "" "" "PCC" "" "" "" "0000129806" "00764" "00164787" "02345" "Isolated (sporadic)" "" "" "" "67y" "" "" "" "" "" "" "" "" "" "" "0000129807" "01503" "00164789" "02345" "Familial" "" "" "" "66y" "" "" "" "" "" "" "PCC" "" "" "" "0000129808" "01503" "00164790" "02345" "Isolated (sporadic)" "" "" "" "46y" "" "" "" "" "" "" "PCC" "" "" "" "0000129809" "01503" "00164791" "02345" "Isolated (sporadic)" "" "" "" "32y" "" "" "" "" "" "" "PCC" "" "" "" "0000129810" "05090" "00164792" "02345" "Isolated (sporadic)" "" "Craniopharyngioma" "" "00y09m" "" "" "" "" "" "" "" "" "" "" "0000129811" "00764" "00164793" "02345" "Familial" "" "" "" "60y" "" "" "" "" "" "" "" "" "" "" "0000129812" "00764" "00164794" "02345" "Isolated (sporadic)" "" "Breast Cancer" "" "47y" "" "" "" "" "" "" "" "" "" "" "0000129813" "01503" "00164795" "02345" "Familial" "" "Breast Cancer" "" "38y" "" "" "" "" "" "" "PCC" "" "" "" "0000129815" "01503" "00164797" "02345" "Familial" "" "Epi, norepi secretion" "" "34y" "" "" "" "" "" "" "PCC" "" "" "" "0000129816" "01503" "00164798" "02345" "Familial" "" "" "" "37y" "" "" "" "" "" "" "PCC" "" "" "" "0000129817" "01503" "00164799" "02345" "Isolated (sporadic)" "" "" "" "47y" "" "" "" "" "" "" "PCC" "" "" "" "0000129818" "01503" "00164800" "02345" "Isolated (sporadic)" "" "Diffuse metastases" "" "59y" "" "" "" "" "" "" "PCC" "" "" "" "0000129820" "01503" "00164803" "02345" "Isolated (sporadic)" "" "" "" "40y" "" "" "" "" "" "" "PCC" "" "" "" "0000129823" "01503" "00164806" "02345" "Familial" "" "" "" "72y" "" "" "" "" "" "" "PCC" "" "" "" "0000129825" "01503" "00164807" "02345" "Familial" "" "RCC\r\nEpinephrine secreter" "" "47y" "" "" "" "" "" "" "PCC" "" "" "" "0000129826" "01503" "00164808" "02345" "Isolated (sporadic)" "" "Papillary thyroid carcinoma, medullary thyroid hyperplasia" "" "26y" "" "" "" "" "" "" "PCC" "" "" "" "0000129827" "01503" "00164809" "02345" "Isolated (sporadic)" "" "" "" "16y" "" "" "" "" "" "" "PCC" "" "" "" "0000129829" "01503" "00164811" "02345" "Familial" "" "" "" "35y" "" "" "" "" "" "" "PCC" "" "" "" "0000129830" "01503" "00164812" "02345" "Familial" "" "" "" "36y" "" "" "" "" "" "" "PCC" "" "" "" "0000129831" "01503" "00164813" "02345" "Familial" "" "" "" "52y" "" "" "" "" "" "" "PCC" "" "" "" "0000129832" "01503" "00164814" "02345" "Isolated (sporadic)" "" "" "" "58y" "" "" "" "" "" "" "PCC" "" "" "" "0000129833" "01503" "00164815" "02345" "Isolated (sporadic)" "" "" "" "68y" "" "" "" "" "" "" "PCC" "" "" "" "0000129834" "01503" "00164816" "02345" "Unknown" "" "" "" "24y" "" "" "" "" "" "" "PCC" "" "" "" "0000130002" "05085" "00165105" "02345" "Unknown" "" "Renal Cell Carcinoma" "" "" "" "" "" "" "" "" "PGL" "" "" "" "0000130003" "01503" "00165106" "02345" "Isolated (sporadic)" "" "Metastasis" "" "41y" "" "" "" "" "" "" "PCC" "" "" "" "0000130004" "05085" "00165107" "02345" "Unknown" "" "Renal papillary adenoma" "" "" "" "" "" "" "" "" "PGL" "" "" "" "0000130005" "01503" "00165108" "02345" "Unknown" "" "" "" "26y" "" "" "" "" "" "" "PCC" "" "" "" "0000130006" "01503" "00165109" "02345" "Isolated (sporadic)" "" "Epinephrine Secreter" "" "40y" "" "" "" "" "" "" "PCC" "" "" "" "0000130007" "01503" "00165110" "02345" "Isolated (sporadic)" "" "Epinephrine secreter" "" "48y" "" "" "" "" "" "" "PCC" "" "" "" "0000130008" "01503" "00165111" "02345" "Unknown" "" "" "" "62y" "" "" "" "" "" "" "PCC" "" "" "" "0000130009" "01503" "00165112" "02345" "Isolated (sporadic)" "" "" "" "43y" "" "" "" "" "" "" "PCC" "" "" "" "0000130010" "01503" "00165113" "02345" "Familial" "" "Epinephrine secretor" "" "20y" "" "" "" "" "" "" "PCC" "" "" "" "0000130011" "05085" "00165114" "02345" "Isolated (sporadic)" "" "Metastasis" "" "35y" "" "" "" "" "" "" "PGL" "" "" "" "0000130029" "01503" "00165132" "02345" "Isolated (sporadic)" "" "Epinephrine secretor" "" "28y" "" "" "" "" "" "" "PCC" "" "" "" "0000130030" "01503" "00165133" "02345" "Isolated (sporadic)" "" "Parathyroid adenoma" "" "" "" "" "" "" "" "" "PCC" "" "" "" "0000130031" "01503" "00165134" "02345" "Isolated (sporadic)" "" "" "" "58y" "" "" "" "" "" "" "PCC" "" "" "" "0000130032" "01503" "00165135" "02345" "Unknown" "" "" "" "35y" "" "" "" "" "" "" "PCC" "" "" "" "0000130033" "01503" "00165136" "02345" "Isolated (sporadic)" "" "Dopamine secreter" "" "58y" "" "" "" "" "" "" "PCC" "" "" "" "0000130034" "01503" "00165137" "02345" "Isolated (sporadic)" "" "Epi and Norepi secretor" "" "46y" "" "" "" "" "" "" "PCC" "" "" "" "0000130036" "00764" "00165162" "02345" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000130037" "01503" "00165163" "02345" "Isolated (sporadic)" "" "Epinephrine secretor" "" "44y" "" "" "" "" "" "" "PCC" "" "" "" "0000130038" "01503" "00165164" "02345" "Isolated (sporadic)" "" "" "" "80y" "" "" "" "" "" "" "PCC" "" "" "" "0000130039" "01503" "00165165" "02345" "Isolated (sporadic)" "" "RCC (clear cell features), low mitotic rate, focal lipid cell change, thyroid nodule.\r\nEpinephrine secretor" "" "47y" "" "" "" "" "" "" "PCC" "" "" "" "0000130040" "01503" "00165166" "02345" "Unknown" "" "" "" "37y" "" "" "" "" "" "" "PCC" "" "" "" "0000130041" "05085" "00165167" "02345" "Isolated (sporadic)" "" "" "" "34y" "" "" "" "" "" "" "PGL-HN" "" "" "" "0000130042" "01503" "00165168" "02345" "Isolated (sporadic)" "" "" "" "45y" "" "" "" "" "" "" "PCC" "" "" "" "0000130043" "05085" "00165169" "02345" "Isolated (sporadic)" "" "" "" "66y" "" "" "" "" "" "" "PGL-IA" "" "" "" "0000130044" "01503" "00165170" "02345" "Isolated (sporadic)" "" "Epinephrine secreter" "" "33y" "" "" "" "" "" "" "PCC" "" "" "" "0000130045" "01503" "00165171" "02345" "Isolated (sporadic)" "" "" "" "55y" "" "" "" "" "" "" "PCC" "" "" "" "0000130046" "01503" "00165172" "02345" "Unknown" "" "" "" "22y" "" "" "" "" "" "" "PCC" "" "" "" "0000130047" "01503" "00165173" "02345" "Isolated (sporadic)" "" "" "" "22y" "" "" "" "" "" "" "PCC" "" "" "" "0000130048" "01503" "00165174" "02345" "Isolated (sporadic)" "" "" "" "76y" "" "" "" "" "" "" "PCC" "" "" "" "0000130076" "01503" "00165202" "02345" "Unknown" "" "Head and Neck PGL" "" "51y" "" "" "" "" "" "" "PCC" "" "" "" "0000130077" "01503" "00165203" "02345" "Isolated (sporadic)" "" "Head and Neck PGL" "" "51y" "" "" "" "" "" "" "PCC" "" "" "" "0000130078" "01503" "00165204" "02345" "Isolated (sporadic)" "" "" "" "38y" "" "" "" "" "" "" "PCC" "" "" "" "0000130079" "01503" "00165206" "02345" "Isolated (sporadic)" "" "Epinephrine secreter" "" "35y" "" "" "" "" "" "" "PCC" "" "" "" "0000130080" "01503" "00165207" "02345" "Isolated (sporadic)" "" "" "" "26y" "" "" "" "" "" "" "PCC" "" "" "" "0000130081" "01503" "00165208" "02345" "Isolated (sporadic)" "" "" "" "25y" "" "" "" "" "" "" "PCC" "" "" "" "0000130082" "01503" "00165209" "02345" "Familial" "" "" "" "33y" "" "" "" "" "" "" "PCC" "" "" "" "0000130083" "01503" "00165210" "02345" "Isolated (sporadic)" "" "Retro peritoneal PGL" "" "51y" "" "" "" "" "" "" "PCC" "" "" "" "0000130084" "05085" "00165212" "02345" "Isolated (sporadic)" "" "" "" "50y" "" "" "" "" "" "" "PGL-HN" "" "" "" "0000130085" "01503" "00165213" "02345" "Isolated (sporadic)" "" "" "" "26y" "" "" "" "" "" "" "PCC" "" "" "" "0000130086" "01503" "00165214" "02345" "Isolated (sporadic)" "" "" "" "47y" "" "" "" "" "" "" "PCC" "" "" "" "0000130087" "01503" "00165215" "02345" "Isolated (sporadic)" "" "" "" "55y" "" "" "" "" "" "" "PCC" "" "" "" "0000130088" "01503" "00165216" "02345" "Unknown" "" "" "" "47y" "" "" "" "" "" "" "PCC" "" "" "" "0000130089" "01503" "00165217" "02345" "Isolated (sporadic)" "" "" "" "64y" "" "" "" "" "" "" "PCC" "" "" "" "0000130090" "01503" "00165218" "02345" "Isolated (sporadic)" "" "Norepinephrine secreter" "" "55y" "" "" "" "" "" "" "PCC" "" "" "" "0000174762" "01503" "00234343" "00489" "Familial, autosomal dominant" "39y" "see paper; hypotension" "" "39y" "" "" "" "" "" "" "PCC" "pheochromocytoma" "pheochromocytoma" "" ## Screenings ## Do not remove or alter this header ## ## Count = 84 "{{id}}" "{{individualid}}" "{{variants_found}}" "{{owned_by}}" "{{created_by}}" "{{created_date}}" "{{edited_by}}" "{{edited_date}}" "{{Screening/Technique}}" "{{Screening/Template}}" "{{Screening/Tissue}}" "{{Screening/Remarks}}" "0000037311" "00037241" "1" "01164" "00008" "2015-04-02 13:01:39" "" "" "SEQ" "DNA" "" "" "0000037312" "00037242" "1" "01164" "00008" "2015-04-02 13:01:39" "" "" "SEQ" "DNA" "" "" "0000096434" "00096031" "1" "01667" "01667" "2017-01-27 23:04:13" "" "" "RFLP;RT-PCR;SEQ;Western" "DNA;RNA" "tumor (pheochromcoytoma)" "" "0000100736" "00100332" "1" "01899" "01899" "2017-02-10 23:54:41" "" "" "SEQ" "DNA" "Blood" "" "0000104417" "00103956" "1" "01899" "01899" "2017-04-25 17:41:01" "" "" "SEQ" "DNA" "" "" "0000104420" "00103957" "1" "01899" "01899" "2017-04-25 22:01:18" "" "" "SEQ" "DNA" "" "" "0000104421" "00103958" "1" "01899" "01899" "2017-04-25 22:24:03" "" "" "PCR;SEQ" "DNA" "" "" "0000165646" "00164780" "1" "02345" "02345" "2018-06-12 15:36:46" "" "" "SEQ" "DNA" "" "" "0000165647" "00164782" "1" "02345" "02345" "2018-06-12 15:51:52" "" "" "SEQ" "DNA" "" "" "0000165649" "00164783" "1" "02345" "02345" "2018-06-12 16:06:53" "" "" "SEQ" "DNA" "" "" "0000165650" "00164784" "1" "02345" "02345" "2018-06-12 16:26:35" "" "" "SEQ" "DNA" "" "" "0000165651" "00164785" "1" "02345" "02345" "2018-06-12 16:38:59" "" "" "SEQ" "DNA" "" "" "0000165652" "00164786" "1" "02345" "02345" "2018-06-12 18:25:54" "" "" "SEQ" "DNA" "" "" "0000165653" "00164787" "1" "02345" "02345" "2018-06-12 18:37:43" "" "" "SEQ" "DNA" "" "" "0000165654" "00164788" "1" "02345" "02345" "2018-06-12 18:45:24" "" "" "SEQ" "DNA" "" "" "0000165655" "00164789" "1" "02345" "02345" "2018-06-12 18:53:08" "" "" "SEQ" "DNA" "" "" "0000165656" "00164790" "1" "02345" "02345" "2018-06-12 19:03:46" "" "" "SEQ" "DNA" "" "" "0000165657" "00164791" "1" "02345" "02345" "2018-06-12 19:55:56" "" "" "SEQ" "DNA" "" "" "0000165658" "00164792" "1" "02345" "02345" "2018-06-12 20:13:39" "" "" "SEQ" "DNA" "" "" "0000165659" "00164793" "1" "02345" "02345" "2018-06-12 20:20:19" "" "" "SEQ" "DNA" "" "" "0000165660" "00164794" "1" "02345" "02345" "2018-06-12 20:26:08" "" "" "SEQ" "DNA" "" "" "0000165661" "00164795" "1" "02345" "02345" "2018-06-12 20:33:23" "" "" "SEQ" "DNA" "" "" "0000165663" "00164797" "1" "02345" "02345" "2018-06-13 00:22:48" "" "" "SEQ" "DNA" "" "" "0000165664" "00164798" "1" "02345" "02345" "2018-06-13 00:26:57" "" "" "SEQ" "DNA" "" "" "0000165665" "00164799" "1" "02345" "02345" "2018-06-13 00:31:54" "" "" "SEQ" "DNA" "" "" "0000165666" "00164800" "1" "02345" "02345" "2018-06-13 00:41:29" "" "" "SEQ" "DNA" "" "" "0000165668" "00164803" "1" "02345" "02345" "2018-06-13 00:55:46" "" "" "SEQ" "DNA" "" "" "0000165672" "00164806" "1" "02345" "02345" "2018-06-13 14:50:48" "" "" "SEQ" "DNA" "" "" "0000165673" "00164807" "1" "02345" "02345" "2018-06-13 15:08:24" "" "" "SEQ" "DNA" "" "" "0000165674" "00164808" "1" "02345" "02345" "2018-06-13 15:20:55" "" "" "SEQ" "DNA" "" "" "0000165675" "00164809" "1" "02345" "02345" "2018-06-13 15:34:43" "" "" "SEQ" "DNA" "" "" "0000165677" "00164811" "1" "02345" "02345" "2018-06-13 16:46:56" "" "" "SEQ" "DNA" "" "" "0000165678" "00164812" "1" "02345" "02345" "2018-06-13 16:53:01" "" "" "SEQ" "DNA" "" "" "0000165679" "00164813" "1" "02345" "02345" "2018-06-13 16:56:57" "" "" "SEQ" "DNA" "" "" "0000165680" "00164814" "1" "02345" "02345" "2018-06-13 17:00:27" "" "" "SEQ" "DNA" "" "" "0000165681" "00164815" "1" "02345" "02345" "2018-06-13 17:13:39" "" "" "SEQ" "DNA" "" "" "0000165682" "00164816" "1" "02345" "02345" "2018-06-13 17:21:09" "" "" "SEQ" "DNA" "" "" "0000165980" "00165105" "1" "02345" "02345" "2018-06-26 16:12:58" "" "" "SEQ" "DNA" "" "" "0000165981" "00165106" "1" "02345" "02345" "2018-06-26 16:20:51" "" "" "SEQ" "DNA" "" "" "0000165982" "00165107" "1" "02345" "02345" "2018-06-26 16:27:06" "" "" "SEQ" "DNA" "" "" "0000165983" "00165108" "1" "02345" "02345" "2018-06-26 16:35:18" "" "" "SEQ" "DNA" "" "" "0000165984" "00165109" "1" "02345" "02345" "2018-06-26 16:53:08" "" "" "SEQ" "DNA" "" "" "0000165985" "00165110" "1" "02345" "02345" "2018-06-26 16:59:26" "" "" "SEQ" "DNA" "" "" "0000165986" "00165111" "1" "02345" "02345" "2018-06-26 17:04:32" "" "" "SEQ" "DNA" "" "" "0000165987" "00165112" "1" "02345" "02345" "2018-06-26 17:57:36" "" "" "SEQ" "DNA" "" "" "0000165988" "00165113" "1" "02345" "02345" "2018-06-26 18:58:05" "" "" "SEQ" "DNA" "" "" "0000165989" "00165114" "1" "02345" "02345" "2018-06-26 19:07:11" "" "" "SEQ" "DNA" "" "" "0000166008" "00165132" "1" "02345" "02345" "2018-06-27 15:17:20" "" "" "SEQ" "DNA" "" "" "0000166009" "00165133" "1" "02345" "02345" "2018-06-27 15:25:07" "" "" "SEQ" "DNA" "" "" "0000166010" "00165134" "1" "02345" "02345" "2018-06-27 18:09:55" "" "" "SEQ" "DNA" "" "" "0000166011" "00165135" "1" "02345" "02345" "2018-06-27 18:29:21" "" "" "SEQ" "DNA" "" "" "0000166012" "00165136" "1" "02345" "02345" "2018-06-27 18:38:27" "" "" "SEQ" "DNA" "" "" "0000166013" "00165137" "1" "02345" "02345" "2018-06-27 18:47:17" "" "" "SEQ" "DNA" "" "" "0000166037" "00165162" "1" "02345" "02345" "2018-06-28 22:13:12" "" "" "SEQ" "DNA" "" "" "0000166038" "00165163" "1" "02345" "02345" "2018-06-28 22:22:57" "" "" "SEQ" "DNA" "" "" "0000166039" "00165164" "1" "02345" "02345" "2018-06-28 22:31:04" "" "" "SEQ" "DNA" "" "" "0000166040" "00165165" "1" "02345" "02345" "2018-06-28 22:38:25" "" "" "SEQ" "DNA" "" "" "0000166041" "00165166" "1" "02345" "02345" "2018-06-28 22:52:02" "" "" "SEQ" "DNA" "" "" "0000166042" "00165167" "1" "02345" "02345" "2018-06-28 23:18:42" "" "" "SEQ" "DNA" "" "" "0000166043" "00165168" "1" "02345" "02345" "2018-06-28 23:25:28" "" "" "SEQ" "DNA" "" "" "0000166044" "00165169" "1" "02345" "02345" "2018-06-28 23:34:12" "" "" "SEQ" "DNA" "" "" "0000166045" "00165170" "1" "02345" "02345" "2018-06-28 23:42:58" "" "" "SEQ" "DNA" "" "" "0000166046" "00165171" "1" "02345" "02345" "2018-06-28 23:50:26" "" "" "SEQ" "DNA" "" "" "0000166047" "00165172" "1" "02345" "02345" "2018-06-28 23:59:55" "" "" "SEQ" "DNA" "" "" "0000166048" "00165173" "1" "02345" "02345" "2018-06-29 00:07:05" "" "" "SEQ" "DNA" "" "" "0000166049" "00165174" "1" "02345" "02345" "2018-06-29 00:15:26" "" "" "SEQ" "DNA" "" "" "0000166077" "00165202" "1" "02345" "02345" "2018-06-29 23:01:35" "" "" "SEQ" "DNA" "" "" "0000166078" "00165203" "1" "02345" "02345" "2018-06-29 23:08:50" "" "" "SEQ" "DNA" "" "" "0000166079" "00165204" "1" "02345" "02345" "2018-06-29 23:35:20" "" "" "SEQ" "DNA" "" "" "0000166080" "00165205" "1" "02345" "02345" "2018-06-29 23:45:26" "" "" "SEQ" "DNA" "" "" "0000166081" "00165206" "1" "02345" "02345" "2018-06-29 23:52:12" "" "" "SEQ" "DNA" "" "" "0000166082" "00165207" "1" "02345" "02345" "2018-06-30 00:03:08" "" "" "SEQ" "DNA" "" "" "0000166083" "00165208" "1" "02345" "02345" "2018-06-30 00:08:14" "" "" "SEQ" "DNA" "" "" "0000166084" "00165209" "1" "02345" "02345" "2018-06-30 00:15:38" "" "" "SEQ" "DNA" "" "" "0000166085" "00165210" "1" "02345" "02345" "2018-06-30 00:23:04" "" "" "SEQ" "DNA" "" "" "0000166086" "00165212" "1" "02345" "02345" "2018-06-30 00:31:52" "" "" "SEQ" "DNA" "" "" "0000166087" "00165213" "1" "02345" "02345" "2018-06-30 00:39:39" "" "" "SEQ" "DNA" "" "" "0000166088" "00165214" "1" "02345" "02345" "2018-06-30 00:45:25" "" "" "SEQ" "DNA" "" "" "0000166089" "00165215" "1" "02345" "02345" "2018-06-30 00:49:55" "" "" "SEQ" "DNA" "" "" "0000166090" "00165216" "1" "02345" "02345" "2018-06-30 00:55:33" "" "" "SEQ" "DNA" "" "" "0000166091" "00165217" "1" "02345" "02345" "2018-07-01 02:10:37" "" "" "SEQ" "DNA" "" "" "0000166092" "00165218" "1" "02345" "02345" "2018-07-01 02:51:17" "" "" "SEQ" "DNA" "" "" "0000235445" "00234343" "1" "00489" "00489" "2019-05-09 20:08:32" "" "" "SEQ-NG-I" "DNA" "Blood" "" "0000294022" "00292854" "1" "03575" "00006" "2020-03-11 19:30:02" "" "" "arraySNP" "DNA" "" "Infinium Global Screening Array v1.0" ## Screenings_To_Genes ## Do not remove or alter this header ## ## Count = 100 "{{screeningid}}" "{{geneid}}" "0000037311" "TMEM127" "0000037312" "TMEM127" "0000096434" "TMEM127" "0000100736" "SDHB" "0000100736" "TMEM127" "0000100736" "VHL" "0000104417" "RET" "0000104417" "SDHB" "0000104417" "SDHC" "0000104417" "SDHD" "0000104417" "TMEM127" "0000104417" "VHL" "0000104420" "RET" "0000104420" "SDHB" "0000104420" "SDHC" "0000104420" "SDHD" "0000104420" "TMEM127" "0000104420" "VHL" "0000104421" "RET" "0000104421" "SDHB" "0000104421" "SDHC" "0000104421" "SDHD" "0000104421" "TMEM127" "0000104421" "VHL" "0000165646" "TMEM127" "0000165647" "TMEM127" "0000165649" "TMEM127" "0000165650" "TMEM127" "0000165651" "TMEM127" "0000165652" "TMEM127" "0000165653" "TMEM127" "0000165654" "TMEM127" "0000165655" "TMEM127" "0000165656" "TMEM127" "0000165657" "TMEM127" "0000165658" "TMEM127" "0000165659" "TMEM127" "0000165660" "TMEM127" "0000165661" "TMEM127" "0000165663" "TMEM127" "0000165664" "TMEM127" "0000165665" "TMEM127" "0000165666" "TMEM127" "0000165668" "TMEM127" "0000165672" "TMEM127" "0000165673" "TMEM127" "0000165674" "TMEM127" "0000165675" "TMEM127" "0000165677" "TMEM127" "0000165678" "TMEM127" "0000165679" "TMEM127" "0000165680" "TMEM127" "0000165681" "TMEM127" "0000165682" "TMEM127" "0000165980" "TMEM127" "0000165981" "TMEM127" "0000165982" "TMEM127" "0000165983" "TMEM127" "0000165984" "TMEM127" "0000165985" "TMEM127" "0000165986" "TMEM127" "0000165987" "TMEM127" "0000165988" "TMEM127" "0000165989" "TMEM127" "0000166008" "TMEM127" "0000166009" "TMEM127" "0000166010" "TMEM127" "0000166011" "TMEM127" "0000166012" "TMEM127" "0000166013" "TMEM127" "0000166037" "TMEM127" "0000166038" "TMEM127" "0000166039" "TMEM127" "0000166040" "TMEM127" "0000166041" "TMEM127" "0000166042" "TMEM127" "0000166043" "TMEM127" "0000166044" "TMEM127" "0000166045" "TMEM127" "0000166046" "TMEM127" "0000166047" "TMEM127" "0000166048" "TMEM127" "0000166049" "TMEM127" "0000166077" "TMEM127" "0000166078" "TMEM127" "0000166079" "TMEM127" "0000166080" "TMEM127" "0000166081" "TMEM127" "0000166082" "TMEM127" "0000166083" "TMEM127" "0000166084" "TMEM127" "0000166085" "TMEM127" "0000166086" "TMEM127" "0000166087" "TMEM127" "0000166088" "TMEM127" "0000166089" "TMEM127" "0000166090" "TMEM127" "0000166091" "TMEM127" "0000166092" "TMEM127" "0000235445" "TMEM127" ## 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 = 119 "{{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}}" "0000064436" "1" "10" "2" "96917588" "96917588" "subst" "0" "01164" "TMEM127_000001" "g.96917588T>G" "" "" "" "" "" "Germline" "" "rs7058" "0" "" "" "g.96251850T>G" "" "benign" "" "0000064437" "1" "10" "2" "96919642" "96919642" "subst" "0.163428" "01164" "TMEM127_000002" "g.96919642C>T" "up to 0.15" "" "" "" "" "Germline" "" "rs3852673" "0" "" "" "g.96253904C>T" "" "benign" "" "0000158428" "20" "99" "2" "96919855" "96919855" "subst" "0" "01667" "TMEM127_000003" "g.96919855T>G" "" "{PMID:Qin 2010:20154675}" "" "NG_027695.1:g.16897A>C" "{CVvar:107}" "Germline" "yes" "rs121908826" "0" "" "" "g.96254117T>G" "" "pathogenic" "" "0000163103" "0" "70" "2" "96920674" "96920674" "del" "0" "01899" "TMEM127_000004" "g.96920674del" "" "" "" "308delG" "" "Germline" "" "" "0" "" "" "g.96254936del" "" "likely pathogenic" "" "0000169142" "0" "70" "2" "96920700" "96920700" "subst" "2.03118E-5" "01899" "TMEM127_000005" "g.96920700G>A" "" "{PMID:Yao 2010:21156949}" "" "" "tumor DNA not tested for LOH of wild-type allele" "Germline" "" "" "0" "" "" "g.96254962G>A" "" "likely pathogenic" "" "0000169145" "0" "70" "2" "96930912" "96930912" "subst" "0.000195269" "01899" "TMEM127_000006" "g.96930912C>T" "" "{PMID:Yao 2010:21156949}" "" "" "" "Germline" "" "" "0" "" "" "g.96265174C>T" "" "likely pathogenic" "" "0000169146" "1" "99" "2" "96931117" "96931117" "subst" "0" "01899" "TMEM127_000007" "g.96931117C>A" "" "{PMID:Yao 2010:21156949}" "" "Met1?" "LOH wt allele in tumor" "Germline" "" "" "0" "" "" "g.96265379C>A" "" "pathogenic" "" "0000273563" "0" "50" "2" "96933170" "96933170" "subst" "0" "01943" "CIAO1_000001" "g.96933170C>G" "" "" "" "CIAO1(NM_004804.2):c.251C>G (p.T84S)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.96267432C>G" "" "VUS" "" "0000311866" "0" "30" "2" "96920572" "96920572" "subst" "1.21854E-5" "02325" "TMEM127_000030" "g.96920572C>A" "" "" "" "TMEM127(NM_017849.4):c.408G>T (p.T136=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.96254834C>A" "" "likely benign" "" "0000311867" "0" "30" "2" "96920564" "96920564" "subst" "0.00496039" "02325" "TMEM127_000029" "g.96920564G>A" "" "" "" "TMEM127(NM_001193304.2):c.409+7C>T (p.(=)), TMEM127(NM_017849.3):c.409+7C>T, TMEM127(NM_017849.4):c.409+7C>T" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.96254826G>A" "" "likely benign" "" "0000313327" "0" "30" "2" "96920712" "96920712" "subst" "0.000658071" "02329" "TMEM127_000021" "g.96920712C>T" "" "" "" "TMEM127(NM_017849.4):c.268G>A (p.V90M)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.96254974C>T" "" "likely benign" "" "0000313328" "0" "30" "2" "96931082" "96931082" "subst" "0" "02329" "TMEM127_000032" "g.96931082C>T" "" "" "" "TMEM127(NM_017849.4):c.38G>A (p.R13H)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.96265344C>T" "" "likely benign" "" "0000313329" "0" "10" "2" "96920564" "96920564" "subst" "0.00496039" "02329" "TMEM127_000029" "g.96920564G>A" "" "" "" "TMEM127(NM_001193304.2):c.409+7C>T (p.(=)), TMEM127(NM_017849.3):c.409+7C>T, TMEM127(NM_017849.4):c.409+7C>T" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.96254826G>A" "" "benign" "" "0000314545" "0" "70" "2" "96920582" "96920582" "subst" "1.62464E-5" "02326" "TMEM127_000031" "g.96920582T>C" "" "" "" "TMEM127(NM_017849.3):c.398A>G (p.H133R), TMEM127(NM_017849.4):c.398A>G (p.H133R)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.96254844T>C" "" "likely pathogenic" "" "0000314546" "0" "70" "2" "96919855" "96919855" "subst" "0" "02326" "TMEM127_000028" "g.96919855T>C" "" "" "" "TMEM127(NM_001193304.3):c.410-2A>G, TMEM127(NM_017849.4):c.410-2A>G" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.96254117T>C" "" "likely pathogenic" "" "0000314547" "0" "50" "2" "96919741" "96919741" "subst" "4.87282E-5" "02326" "TMEM127_000027" "g.96919741G>A" "" "" "" "TMEM127(NM_017849.3):c.522C>T (p.A174=), TMEM127(NM_017849.4):c.522C>T (p.A174=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.96254003G>A" "" "VUS" "" "0000314548" "0" "10" "2" "96919642" "96919642" "subst" "0.163428" "02326" "TMEM127_000002" "g.96919642C>T" "" "" "" "TMEM127(NM_017849.3):c.621G>A (p.A207=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.96253904C>T" "" "benign" "" "0000316670" "0" "30" "2" "96919698" "96919698" "subst" "0.000381717" "01943" "TMEM127_000026" "g.96919698G>A" "" "" "" "TMEM127(NM_017849.3):c.565C>T (p.L189=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.96253960G>A" "" "likely benign" "" "0000338953" "0" "30" "2" "96919489" "96919489" "subst" "0" "02327" "TMEM127_000033" "g.96919489G>A" "" "" "" "" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.96253751G>A" "" "likely benign" "" "0000338954" "0" "10" "2" "96920564" "96920564" "subst" "0.00496039" "02327" "TMEM127_000029" "g.96920564G>A" "" "" "" "TMEM127(NM_001193304.2):c.409+7C>T (p.(=)), TMEM127(NM_017849.3):c.409+7C>T, TMEM127(NM_017849.4):c.409+7C>T" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.96254826G>A" "" "benign" "" "0000339115" "0" "90" "2" "96919855" "96919855" "subst" "0" "02327" "TMEM127_000028" "g.96919855T>C" "" "" "" "TMEM127(NM_001193304.3):c.410-2A>G, TMEM127(NM_017849.4):c.410-2A>G" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.96254117T>C" "" "pathogenic" "" "0000340595" "0" "10" "2" "96919642" "96919642" "subst" "0.163428" "02327" "TMEM127_000002" "g.96919642C>T" "" "" "" "TMEM127(NM_017849.3):c.621G>A (p.A207=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.96253904C>T" "" "benign" "" "0000346374" "0" "70" "2" "96920582" "96920582" "subst" "1.62464E-5" "02327" "TMEM127_000031" "g.96920582T>C" "" "" "" "TMEM127(NM_017849.3):c.398A>G (p.H133R), TMEM127(NM_017849.4):c.398A>G (p.H133R)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.96254844T>C" "" "likely pathogenic" "" "0000349279" "0" "50" "2" "96920573" "96920573" "subst" "2.43716E-5" "02327" "TMEM127_000034" "g.96920573G>A" "" "" "" "" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.96254835G>A" "" "VUS" "" "0000369381" "0" "77" "2" "96931137" "96931137" "subst" "0" "02345" "TMEM127_000037" "g.96931137G>A" "" "" "" "" "" "De novo" "" "rs121908813" "0" "" "" "g.96265399G>A" "" "likely pathogenic" "" "0000369382" "0" "77" "2" "96931044" "96931044" "subst" "0" "02345" "TMEM127_000038" "g.96931044G>A" "" "" "" "" "" "De novo" "" "rs121908815" "0" "" "" "g.96265306G>A" "" "likely pathogenic" "" "0000369384" "0" "57" "2" "96930962" "96930962" "subst" "0" "02345" "TMEM127_000039" "g.96930962C>G" "" "" "" "" "Loss of heterogenozygosity" "De novo" "" "rs121908818" "0" "" "" "g.96265224C>G" "" "VUS" "" "0000369385" "0" "55" "2" "96931053" "96931053" "subst" "4.68691E-5" "02345" "TMEM127_000040" "g.96931053G>T" "" "" "" "" "" "De novo" "" "rs749807415" "0" "" "" "g.96265315G>T" "" "VUS" "" "0000369386" "0" "57" "2" "96931002" "96931005" "del" "0" "02345" "TMEM127_000041" "g.96931002_96931005del" "" "" "" "166_119delTGTC" "" "De novo" "" "" "0" "" "" "g.96265264_96265267del" "" "VUS" "" "0000369387" "0" "57" "2" "96930969" "96930970" "ins" "0" "02345" "TMEM127_000042" "g.96930969_96930970insT" "" "" "" "" "Loss of heterozygosity" "Unknown" "" "" "0" "" "" "g.96265231_96265232insT" "" "VUS" "" "0000369388" "0" "57" "2" "96930912" "96930912" "subst" "0.000195269" "02345" "TMEM127_000006" "g.96930912C>T" "" "" "" "" "" "De novo" "" "rs121908819" "0" "" "" "g.96265174C>T" "" "VUS" "" "0000369389" "0" "57" "2" "96930903" "96930903" "subst" "3.79487E-5" "02345" "TMEM127_000043" "g.96930903C>G" "" "" "" "" "" "De novo" "" "rs121908820" "0" "" "" "g.96265165C>G" "" "VUS" "" "0000369390" "0" "79" "2" "96920736" "96920736" "subst" "0" "02345" "TMEM127_000044" "g.96920736C>A" "" "" "" "" "Loss of heterozygosity" "Germline" "" "rs121908821" "0" "" "" "g.96254998C>A" "" "likely pathogenic" "" "0000369391" "0" "59" "2" "96920715" "96920718" "del" "0" "02345" "TMEM127_000045" "g.96920715_96920718del" "" "" "" "" "Loss of heterozygosity" "De novo" "" "" "0" "" "" "g.96254977_96254980del" "" "VUS" "" "0000369392" "0" "55" "2" "96920712" "96920712" "subst" "0.000658071" "02345" "TMEM127_000021" "g.96920712C>T" "" "" "" "" "" "De novo" "" "rs121908823" "0" "" "" "g.96254974C>T" "" "VUS" "" "0000369393" "0" "55" "2" "96920712" "96920712" "subst" "0.000658071" "02345" "TMEM127_000021" "g.96920712C>T" "" "" "" "" "" "De novo" "" "rs121908823" "0" "" "" "g.96254974C>T" "" "VUS" "" "0000369394" "0" "55" "2" "96920627" "96920627" "subst" "1.21844E-5" "02345" "TMEM127_000046" "g.96920627G>A" "" "" "" "" "" "De novo" "" "rs769359648" "0" "" "" "g.96254889G>A" "" "VUS" "" "0000369395" "0" "55" "2" "96920603" "96920603" "subst" "4.06128E-6" "02345" "TMEM127_000047" "g.96920603G>A" "" "" "" "" "" "De novo" "" "rs775944671" "0" "" "" "g.96254865G>A" "" "VUS" "" "0000369396" "0" "59" "2" "96920570" "96920570" "subst" "0" "02345" "TMEM127_000048" "g.96920570C>A" "" "" "" "" "" "Germline" "" "" "0" "" "" "g.96254832C>A" "" "VUS" "" "0000369398" "0" "59" "2" "96919855" "96919855" "subst" "0" "02345" "TMEM127_000003" "g.96919855T>G" "" "" "" "" "Loss of heterozygosity" "Germline" "" "" "0" "" "" "g.96254117T>G" "" "VUS" "" "0000369399" "0" "59" "2" "96919855" "96919855" "subst" "0" "02345" "TMEM127_000003" "g.96919855T>G" "" "" "" "" "Loss of heterozygosity" "Germline" "" "" "0" "" "" "g.96254117T>G" "" "VUS" "" "0000369400" "0" "79" "2" "96919845" "96919845" "subst" "0" "02345" "TMEM127_000049" "g.96919845A>G" "" "" "" "" "" "De novo" "" "rs121908827" "0" "" "" "g.96254107A>G" "" "likely pathogenic" "" "0000369401" "0" "79" "2" "96919844" "96919844" "subst" "4.06967E-6" "02345" "TMEM127_000050" "g.96919844C>T" "" "" "" "" "" "De novo" "" "rs121908828" "0" "" "" "g.96254106C>T" "" "likely pathogenic" "" "0000369402" "0" "79" "2" "96919816" "96919816" "subst" "0" "02345" "TMEM127_000051" "g.96919816C>T" "" "" "" "" "" "De novo" "" "rs121908829" "0" "" "" "g.96254078C>T" "" "likely pathogenic" "" "0000369406" "0" "99" "2" "96919788" "96919788" "subst" "0" "02345" "TMEM127_000052" "g.96919788G>A" "" "" "" "" "Loss of heterozygosity" "Germline" "" "rs121908830" "0" "" "" "g.96254050G>A" "" "pathogenic" "" "0000369407" "0" "59" "2" "96919731" "96919731" "dup" "0" "02345" "TMEM127_000053" "g.96919731dup" "" "" "" "" "Loss of heterozygosity" "Germline" "" "" "0" "" "" "g.96253993dup" "" "VUS" "" "0000369408" "0" "79" "2" "96919625" "96919638" "dup" "0" "02345" "TMEM127_000054" "g.96919625_96919638dup" "" "" "" "" "" "De novo" "" "rs121908831" "0" "" "" "g.96253887_96253900dup" "" "likely pathogenic" "" "0000369409" "0" "55" "2" "96931121" "96931121" "subst" "0" "02345" "TMEM127_000055" "g.96931121C>A" "" "" "" "" "" "De novo" "" "" "0" "" "" "g.96265383C>A" "" "VUS" "" "0000369411" "0" "57" "2" "96931117" "96931117" "subst" "0" "02345" "TMEM127_000056" "g.96931117C>T" "" "" "" "" "" "De novo" "" "rs121908814" "0" "" "" "g.96265379C>T" "" "VUS" "" "0000369412" "0" "57" "2" "96931117" "96931117" "subst" "0" "02345" "TMEM127_000056" "g.96931117C>T" "" "" "" "" "" "Germline" "" "rs121908814" "0" "" "" "g.96265379C>T" "" "VUS" "" "0000369413" "0" "57" "2" "96931117" "96931117" "subst" "0" "02345" "TMEM127_000056" "g.96931117C>T" "" "" "" "" "" "Germline" "" "rs121908814" "0" "" "" "g.96265379C>T" "" "VUS" "" "0000369414" "0" "57" "2" "96931117" "96931117" "subst" "0" "02345" "TMEM127_000056" "g.96931117C>T" "" "" "" "" "" "De novo" "" "rs121908814" "0" "" "" "g.96265379C>T" "" "VUS" "" "0000369415" "0" "59" "2" "96931047" "96931047" "subst" "0" "02345" "TMEM127_000057" "g.96931047T>A" "" "" "" "" "" "De novo" "" "" "0" "" "" "g.96265309T>A" "" "VUS" "" "0000369416" "0" "59" "2" "96931047" "96931047" "subst" "0" "02345" "TMEM127_000057" "g.96931047T>A" "" "" "" "" "" "Unknown" "" "" "0" "" "" "g.96265309T>A" "" "VUS" "" "0000369821" "0" "55" "2" "96931008" "96931008" "subst" "0" "02345" "TMEM127_000058" "g.96931008C>T" "" "" "" "" "" "Unknown" "" "" "0" "" "" "g.96265270C>T" "" "VUS" "" "0000369824" "0" "57" "2" "96931007" "96931007" "subst" "0" "02345" "TMEM127_000059" "g.96931007G>T" "" "" "" "" "" "De novo" "" "" "0" "" "" "g.96265269G>T" "" "VUS" "" "0000369826" "0" "55" "2" "96931007" "96931007" "subst" "0" "02345" "TMEM127_000060" "g.96931007G>A" "" "" "" "" "" "Unknown" "" "" "0" "" "" "g.96265269G>A" "" "VUS" "" "0000369827" "0" "59" "2" "96931002" "96931005" "del" "0" "02345" "TMEM127_000041" "g.96931002_96931005del" "" "" "" "166_119delTGTC" "" "Unknown" "" "" "0" "" "" "g.96265264_96265267del" "" "VUS" "" "0000369828" "0" "59" "2" "96931002" "96931005" "del" "0" "02345" "TMEM127_000041" "g.96931002_96931005del" "" "" "" "166_119delTGTC" "" "De novo" "" "" "0" "" "" "g.96265264_96265267del" "" "VUS" "" "0000369832" "0" "59" "2" "96931002" "96931005" "del" "0" "02345" "TMEM127_000041" "g.96931002_96931005del" "" "" "" "166_119delTGTC" "" "De novo" "" "" "0" "" "" "g.96265264_96265267del" "" "VUS" "" "0000369833" "0" "59" "2" "96931002" "96931005" "del" "0" "02345" "TMEM127_000041" "g.96931002_96931005del" "" "" "" "166_119delTGTC" "" "Unknown" "" "" "0" "" "" "g.96265264_96265267del" "" "VUS" "" "0000369834" "0" "55" "2" "96930989" "96930989" "subst" "0" "02345" "TMEM127_000061" "g.96930989A>C" "" "" "" "" "" "De novo" "" "" "0" "" "" "g.96265251A>C" "" "VUS" "" "0000369835" "0" "57" "2" "96930980" "96930980" "subst" "0" "02345" "TMEM127_000062" "g.96930980G>T" "" "" "" "" "Loss of heterozygosity" "Germline" "" "" "0" "" "" "g.96265242G>T" "" "VUS" "" "0000369836" "0" "57" "2" "96930966" "96930966" "subst" "0" "02345" "TMEM127_000063" "g.96930966C>A" "" "" "" "" "" "De novo" "" "" "0" "" "" "g.96265228C>A" "" "VUS" "" "0000369871" "0" "59" "2" "96930929" "96930930" "dup" "0" "02345" "TMEM127_000064" "g.96930929_96930930dup" "" "" "" "" "" "De novo" "" "" "0" "" "" "g.96265191_96265192dup" "" "VUS" "" "0000369872" "0" "59" "2" "96930922" "96930922" "del" "0" "02345" "TMEM127_000065" "g.96930922del" "" "" "" "202delG" "" "De novo" "" "" "0" "" "" "g.96265184del" "" "VUS" "" "0000369873" "0" "59" "2" "96930905" "96930905" "subst" "0" "02345" "TMEM127_000066" "g.96930905A>T" "" "" "" "" "" "De novo" "" "" "0" "" "" "g.96265167A>T" "" "VUS" "" "0000369874" "0" "55" "2" "96930899" "96930899" "subst" "0" "02345" "TMEM127_000067" "g.96930899T>G" "" "" "" "" "" "Unknown" "" "rs747804736" "0" "" "" "g.96265161T>G" "" "VUS" "" "0000369875" "0" "59" "2" "96930898" "96930898" "subst" "0" "02345" "TMEM127_000068" "g.96930898A>T" "" "" "" "" "" "De novo" "" "" "0" "" "" "g.96265160A>T" "" "VUS" "" "0000369876" "0" "99" "2" "96920734" "96920734" "del" "0" "02345" "TMEM127_000069" "g.96920734del" "" "" "" "248delT" "" "De novo" "" "rs587781773" "0" "" "" "g.96254996del" "" "pathogenic" "" "0000369901" "0" "55" "2" "96920721" "96920721" "subst" "0" "02345" "TMEM127_000070" "g.96920721G>A" "" "" "" "" "" "Unknown" "" "" "0" "" "" "g.96254983G>A" "" "VUS" "" "0000369902" "0" "55" "2" "96920712" "96920712" "subst" "0.000658071" "02345" "TMEM127_000021" "g.96920712C>T" "" "" "" "" "" "De novo" "" "rs121908823" "0" "" "" "g.96254974C>T" "" "VUS" "" "0000369903" "0" "55" "2" "96920712" "96920712" "subst" "0.000658071" "02345" "TMEM127_000021" "g.96920712C>T" "" "" "" "" "" "De novo" "" "rs121908823" "0" "" "" "g.96254974C>T" "" "VUS" "" "0000369904" "0" "79" "2" "96920674" "96920674" "del" "0" "02345" "TMEM127_000071" "g.96920674del" "" "" "" "308delG" "" "De novo" "" "rs727503490" "0" "" "" "g.96254936del" "" "likely pathogenic" "" "0000369905" "0" "57" "2" "96920661" "96920663" "del" "0" "02345" "TMEM127_000035" "g.96920661_96920663del" "" "" "" "" "" "Unknown" "" "" "0" "" "" "g.96254923_96254925del" "" "VUS" "" "0000369906" "0" "57" "2" "96920655" "96920655" "subst" "8.12321E-6" "02345" "TMEM127_000072" "g.96920655A>G" "" "" "" "" "" "De novo" "" "" "0" "" "" "g.96254917A>G" "" "VUS" "" "0000369907" "0" "59" "2" "96919854" "96919854" "subst" "0" "02345" "TMEM127_000073" "g.96919854C>G" "" "" "" "" "" "De novo" "" "" "0" "" "" "g.96254116C>G" "" "VUS" "" "0000369908" "0" "59" "2" "96919850" "96919850" "subst" "4.07292E-6" "02345" "TMEM127_000074" "g.96919850A>C" "" "" "" "" "" "De novo" "" "" "0" "" "" "g.96254112A>C" "" "VUS" "" "0000369909" "0" "59" "2" "96919848" "96919848" "subst" "0" "02345" "TMEM127_000075" "g.96919848G>A" "" "" "" "" "" "De novo" "" "" "0" "" "" "g.96254110G>A" "" "VUS" "" "0000369910" "0" "79" "2" "96919845" "96919845" "subst" "0" "02345" "TMEM127_000049" "g.96919845A>G" "" "" "" "" "" "De novo" "" "rs121908827" "0" "" "" "g.96254107A>G" "" "likely pathogenic" "" "0000369911" "0" "79" "2" "96919844" "96919844" "subst" "4.06967E-6" "02345" "TMEM127_000050" "g.96919844C>T" "" "" "" "" "" "Unknown" "" "rs121908828" "0" "" "" "g.96254106C>T" "" "likely pathogenic" "" "0000369912" "0" "79" "2" "96919844" "96919844" "subst" "4.06967E-6" "02345" "TMEM127_000050" "g.96919844C>T" "" "" "" "" "" "De novo" "" "rs121908828" "0" "" "" "g.96254106C>T" "" "likely pathogenic" "" "0000369913" "0" "57" "2" "96919801" "96919801" "subst" "0" "02345" "TMEM127_000076" "g.96919801G>C" "" "" "" "" "" "De novo" "" "" "0" "" "" "g.96254063G>C" "" "VUS" "" "0000370489" "0" "99" "2" "96919799" "96919799" "subst" "4.06095E-6" "02345" "TMEM127_000077" "g.96919799A>T" "" "" "" "" "" "Unknown" "" "rs886039439" "0" "" "" "g.96254061A>T" "" "pathogenic" "" "0000370490" "0" "99" "2" "96919799" "96919799" "subst" "4.06095E-6" "02345" "TMEM127_000077" "g.96919799A>T" "" "" "" "" "" "De novo" "" "rs886039439" "0" "" "" "g.96254061A>T" "" "pathogenic" "" "0000370491" "0" "99" "2" "96919794" "96919794" "subst" "4.06098E-6" "02345" "TMEM127_000078" "g.96919794G>A" "" "" "" "" "" "De novo" "" "rs780133289" "0" "" "" "g.96254056G>A" "" "pathogenic" "" "0000370492" "0" "99" "2" "96919794" "96919794" "subst" "4.06098E-6" "02345" "TMEM127_000078" "g.96919794G>A" "" "" "" "" "" "De novo" "" "rs780133289" "0" "" "" "g.96254056G>A" "" "pathogenic" "" "0000370493" "0" "59" "2" "96919771" "96919771" "subst" "0" "02345" "TMEM127_000079" "g.96919771G>C" "" "" "" "" "" "De novo" "" "" "0" "" "" "g.96254033G>C" "" "VUS" "" "0000370494" "0" "57" "2" "96919745" "96919745" "subst" "0" "02345" "TMEM127_000080" "g.96919745A>G" "" "" "" "" "" "De novo" "" "" "0" "" "" "g.96254007A>G" "" "VUS" "" "0000370495" "0" "59" "2" "96919731" "96919731" "dup" "0" "02345" "TMEM127_000053" "g.96919731dup" "" "" "" "" "" "De novo" "" "" "0" "" "" "g.96253993dup" "" "VUS" "" "0000370496" "0" "59" "2" "96919708" "96919720" "dup" "0" "02345" "TMEM127_000081" "g.96919708_96919720dup" "" "" "" "" "" "Germline" "" "" "0" "" "" "g.96253970_96253982dup" "" "VUS" "" "0000370497" "0" "57" "2" "96919710" "96919710" "subst" "0" "02345" "TMEM127_000082" "g.96919710C>T" "" "" "" "" "" "De novo" "" "" "0" "" "" "g.96253972C>T" "" "VUS" "" "0000370498" "0" "57" "2" "96919695" "96919695" "subst" "0" "02345" "TMEM127_000083" "g.96919695C>T" "" "" "" "" "" "De novo" "" "" "0" "" "" "g.96253957C>T" "" "VUS" "" "0000370499" "0" "59" "2" "96919691" "96919691" "del" "0" "02345" "TMEM127_000084" "g.96919691del" "" "" "" "" "" "De novo" "" "" "0" "" "" "g.96253953del" "" "VUS" "" "0000370500" "0" "59" "2" "96919691" "96919691" "del" "0" "02345" "TMEM127_000084" "g.96919691del" "" "" "" "" "" "De novo" "" "" "0" "" "" "g.96253953del" "" "VUS" "" "0000370501" "0" "53" "2" "96919598" "96919598" "subst" "0.00010562" "02345" "TMEM127_000085" "g.96919598G>A" "" "" "" "" "" "De novo" "" "" "0" "" "" "g.96253860G>A" "" "VUS" "" "0000370502" "0" "59" "2" "96919691" "96919691" "del" "0" "02345" "TMEM127_000086" "g.96919691del" "" "" "" "572delC" "" "Unknown" "" "" "0" "" "" "g.96253953del" "" "VUS" "" "0000370503" "0" "79" "2" "96919694" "96919694" "del" "0" "02345" "TMEM127_000087" "g.96919694del" "" "" "" "570delC" "" "De novo" "" "" "0" "" "" "g.96253956del" "" "likely pathogenic" "" "0000370504" "0" "53" "2" "96919598" "96919598" "subst" "0.00010562" "02345" "TMEM127_000085" "g.96919598G>A" "" "" "" "" "" "De novo" "" "rs373951977" "0" "" "" "g.96253860G>A" "" "VUS" "" "0000478201" "10" "70" "2" "96931034" "96931034" "del" "0" "00489" "TMEM127_000088" "g.96931034del" "" "{DOI:Fernández-Pombo2019:10.1155/2019/2502174}" "" "86delG" "" "Germline" "yes" "" "0" "" "" "g.96265296del" "" "pathogenic (dominant)" "" "0000517135" "0" "30" "2" "96920564" "96920564" "subst" "0.00496039" "01943" "TMEM127_000029" "g.96920564G>A" "" "" "" "TMEM127(NM_001193304.2):c.409+7C>T (p.(=)), TMEM127(NM_017849.3):c.409+7C>T, TMEM127(NM_017849.4):c.409+7C>T" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.96254826G>A" "" "likely benign" "" "0000517136" "0" "50" "2" "96930933" "96930933" "subst" "0" "02329" "CIAO1_000002" "g.96930933G>A" "" "" "" "TMEM127(NM_017849.4):c.187C>T (p.R63C)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.96265195G>A" "" "VUS" "" "0000650711" "1" "90" "2" "96919788" "96919788" "subst" "0" "03575" "TMEM127_000052" "g.96919788G>A" "1/2795 individuals" "{PMID:Narang 2020:32906206}, {DOI:Narang 2020:10.1002/humu.24102}" "" "" "1 heterozygous, no homozygous; {DB:CLININrs121908830}" "Germline" "" "rs121908830" "0" "" "" "g.96254050G>A" "" "pathogenic" "" "0000654741" "0" "30" "2" "96919698" "96919698" "subst" "0.000381717" "02327" "TMEM127_000026" "g.96919698G>A" "" "" "" "TMEM127(NM_017849.3):c.565C>T (p.L189=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.96253960G>A" "" "likely benign" "" "0000800850" "0" "30" "2" "96930929" "96930929" "subst" "0" "02327" "CIAO1_000009" "g.96930929T>C" "" "" "" "" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000800851" "0" "50" "2" "96933472" "96933472" "subst" "0" "01943" "CIAO1_000010" "g.96933472A>G" "" "" "" "CIAO1(NM_004804.2):c.398A>G (p.E133G)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000850070" "0" "30" "2" "96920564" "96920564" "subst" "0.00496039" "01804" "TMEM127_000029" "g.96920564G>A" "" "" "" "TMEM127(NM_001193304.2):c.409+7C>T (p.(=)), TMEM127(NM_017849.3):c.409+7C>T, TMEM127(NM_017849.4):c.409+7C>T" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000923794" "0" "70" "2" "96919855" "96919855" "subst" "0" "02325" "TMEM127_000028" "g.96919855T>C" "" "" "" "TMEM127(NM_001193304.3):c.410-2A>G, TMEM127(NM_017849.4):c.410-2A>G" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely pathogenic" "" "0000923795" "0" "30" "2" "96920712" "96920712" "subst" "0.000658071" "02327" "TMEM127_000021" "g.96920712C>T" "" "" "" "TMEM127(NM_017849.4):c.268G>A (p.V90M)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000923796" "0" "90" "2" "96931092" "96931092" "del" "0" "02325" "CIAO1_000014" "g.96931092del" "" "" "" "TMEM127(NM_017849.4):c.30delC (p.G11Afs*70)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "pathogenic" "" "0000928665" "0" "70" "2" "96920582" "96920582" "subst" "1.62464E-5" "02329" "TMEM127_000031" "g.96920582T>C" "" "" "" "TMEM127(NM_017849.3):c.398A>G (p.H133R), TMEM127(NM_017849.4):c.398A>G (p.H133R)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely pathogenic" "" "0000947979" "0" "50" "2" "96931094" "96931094" "subst" "0" "02327" "CIAO1_000016" "g.96931094A>C" "" "" "" "" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000975461" "0" "50" "2" "96919697" "96919697" "subst" "0" "02327" "TMEM127_000089" "g.96919697A>G" "" "" "" "" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000975462" "0" "30" "2" "96931178" "96931178" "subst" "0" "02327" "CIAO1_000017" "g.96931178G>A" "" "" "" "" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0001024689" "0" "30" "2" "96919741" "96919741" "subst" "4.87282E-5" "02329" "TMEM127_000027" "g.96919741G>A" "" "" "" "TMEM127(NM_017849.3):c.522C>T (p.A174=), TMEM127(NM_017849.4):c.522C>T (p.A174=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0001047199" "0" "30" "2" "96920434" "96920434" "subst" "0" "03779" "TMEM127_000090" "g.96920434G>A" "" "" "" "" "" "Unknown" "" "rs150996178" "0" "" "" "" "" "likely benign" "" "0001048466" "0" "50" "2" "96919656" "96919656" "subst" "0" "03779" "TMEM127_000091" "g.96919656C>T" "" "" "" "" "" "Unknown" "" "rs2104283542" "0" "" "" "" "" "VUS" "" "0001048789" "0" "30" "2" "96920712" "96920712" "subst" "0.000658071" "03779" "TMEM127_000021" "g.96920712C>T" "" "" "" "" "" "Unknown" "" "rs121908823" "0" "" "" "" "" "likely benign" "" "0001048985" "0" "30" "2" "96920761" "96920761" "subst" "0.000163181" "03779" "chr2_023963" "g.96920761C>T" "" "" "" "" "" "Unknown" "" "rs140381370" "0" "" "" "" "" "likely benign" "" ## 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 TMEM127 ## Count = 119 "{{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}}" "0000064436" "00021364" "10" "2675" "0" "2675" "0" "c.*1958A>C" "r.(?)" "p.(=)" "4" "0000064437" "00021364" "10" "621" "0" "621" "0" "c.621G>A" "r.(621g>a)" "p.(=)" "4" "0000158428" "00021364" "99" "410" "-2" "410" "-2" "c.410-2A>C" "r.410_417del" "p.Leu138Cysfs*12" "3i" "0000163103" "00021364" "70" "308" "0" "308" "0" "c.308del" "r.(?)" "p.(Gly103Alafs*21)" "3" "0000169142" "00021364" "70" "280" "0" "280" "0" "c.280C>T" "r.(?)" "p.(Arg94Trp)" "3" "0000169145" "00021364" "70" "208" "0" "208" "0" "c.208G>A" "r.(?)" "p.(Asp70Asn)" "2" "0000169146" "00021364" "99" "3" "0" "3" "0" "c.3G>T" "r.(?)" "p.0?" "2" "0000273563" "00021364" "50" "-1695" "0" "-1695" "0" "c.-1695G>C" "r.(?)" "p.(=)" "" "0000311866" "00021364" "30" "408" "0" "408" "0" "c.408G>T" "r.(?)" "p.(Thr136=)" "" "0000311867" "00021364" "30" "409" "7" "409" "7" "c.409+7C>T" "r.(=)" "p.(=)" "" "0000313327" "00021364" "30" "268" "0" "268" "0" "c.268G>A" "r.(?)" "p.(Val90Met)" "" "0000313328" "00021364" "30" "38" "0" "38" "0" "c.38G>A" "r.(?)" "p.(Arg13His)" "" "0000313329" "00021364" "10" "409" "7" "409" "7" "c.409+7C>T" "r.(=)" "p.(=)" "" "0000314545" "00021364" "70" "398" "0" "398" "0" "c.398A>G" "r.(?)" "p.(His133Arg)" "" "0000314546" "00021364" "70" "410" "-2" "410" "-2" "c.410-2A>G" "r.spl?" "p.?" "" "0000314547" "00021364" "50" "522" "0" "522" "0" "c.522C>T" "r.(?)" "p.(Ala174=)" "" "0000314548" "00021364" "10" "621" "0" "621" "0" "c.621G>A" "r.(?)" "p.(Ala207=)" "" "0000316670" "00021364" "30" "565" "0" "565" "0" "c.565C>T" "r.(?)" "p.(Leu189=)" "" "0000338953" "00021364" "30" "774" "0" "774" "0" "c.*57C>T" "r.(=)" "p.(=)" "" "0000338954" "00021364" "10" "409" "7" "409" "7" "c.409+7C>T" "r.(=)" "p.(=)" "" "0000339115" "00021364" "90" "410" "-2" "410" "-2" "c.410-2A>G" "r.spl?" "p.?" "" "0000340595" "00021364" "10" "621" "0" "621" "0" "c.621G>A" "r.(?)" "p.(Ala207=)" "" "0000346374" "00021364" "70" "398" "0" "398" "0" "c.398A>G" "r.(?)" "p.(His133Arg)" "" "0000349279" "00021364" "50" "407" "0" "407" "0" "c.407C>T" "r.(?)" "p.(Thr136Met)" "" "0000369381" "00021364" "77" "-18" "0" "-18" "0" "c.-18C>T" "r.(=)" "p.(=)" "" "0000369382" "00021364" "77" "76" "0" "76" "0" "c.76C>T" "r.(?)" "p.(Gln26*)" "" "0000369384" "00021364" "57" "158" "0" "158" "0" "c.158G>C" "r.(?)" "p.(Trp53Ser)" "" "0000369385" "00021364" "55" "67" "0" "67" "0" "c.67C>A" "r.(?)" "p.(Leu23Met)" "" "0000369386" "00021364" "57" "117" "0" "120" "0" "c.117_120del" "r.(?)" "p.(Ile41Argfs*39)" "" "0000369387" "00021364" "57" "150" "0" "151" "0" "c.150_151insA" "r.(?)" "p.(Pro51Thrfs*57)" "" "0000369388" "00021364" "57" "208" "0" "208" "0" "c.208G>A" "r.(?)" "p.(Asp70Asn)" "" "0000369389" "00021364" "57" "217" "0" "217" "0" "c.217G>C" "r.(?)" "p.(Gly73Arg)" "" "0000369390" "00021364" "79" "245" "-1" "245" "-1" "c.245-1G>T" "r.spl?" "p.?" "" "0000369391" "00021364" "59" "265" "0" "268" "0" "c.265_268del" "r.(?)" "p.(Thr89Cysfs*34)" "" "0000369392" "00021364" "55" "268" "0" "268" "0" "c.268G>A" "r.(?)" "p.(Val90Met)" "" "0000369393" "00021364" "55" "268" "0" "268" "0" "c.268G>A" "r.(?)" "p.(Val90Met)" "" "0000369394" "00021364" "55" "353" "0" "353" "0" "c.353C>T" "r.(?)" "p.(Pro118Leu)" "" "0000369395" "00021364" "55" "377" "0" "377" "0" "c.377C>T" "r.(?)" "p.(Thr126Ile)" "" "0000369396" "00021364" "59" "409" "1" "409" "1" "c.409+1G>T" "r.spl?" "p.?" "" "0000369398" "00021364" "59" "410" "-2" "410" "-2" "c.410-2A>C" "r.spl?" "p.?" "" "0000369399" "00021364" "59" "410" "-2" "410" "-2" "c.410-2A>C" "r.spl?" "p.?" "" "0000369400" "00021364" "79" "418" "0" "418" "0" "c.418T>C" "r.(?)" "p.(Cys140Arg)" "" "0000369401" "00021364" "79" "419" "0" "419" "0" "c.419G>A" "r.(?)" "p.(Cys140Tyr)" "" "0000369402" "00021364" "79" "447" "0" "447" "0" "c.447G>A" "r.(?)" "p.(Trp149*)" "" "0000369406" "00021364" "99" "475" "0" "475" "0" "c.475C>T" "r.(?)" "p.(Gln159*)" "" "0000369407" "00021364" "59" "532" "0" "532" "0" "c.532dup" "r.(?)" "p.(Tyr178Leufs*48)" "" "0000369408" "00021364" "79" "627" "0" "640" "0" "c.627_640dup" "r.(?)" "p.(Met214Serfs*98)" "" "0000369409" "00021364" "55" "-2" "0" "-2" "0" "c.-2G>T" "r.(=)" "p.(=)" "" "0000369411" "00021364" "57" "3" "0" "3" "0" "c.3G>A" "r.(?)" "p.(Met1?)" "" "0000369412" "00021364" "57" "3" "0" "3" "0" "c.3G>A" "r.(?)" "p.(Met1?)" "" "0000369413" "00021364" "57" "3" "0" "3" "0" "c.3G>A" "r.(?)" "p.(Met1?)" "" "0000369414" "00021364" "57" "3" "0" "3" "0" "c.3G>A" "r.(?)" "p.(Met1?)" "" "0000369415" "00021364" "59" "73" "0" "73" "0" "c.73A>T" "r.(?)" "p.(Lys25*)" "" "0000369416" "00021364" "59" "73" "0" "73" "0" "c.73A>T" "r.(?)" "p.(Lys25*)" "" "0000369821" "00021364" "55" "112" "0" "112" "0" "c.112G>A" "r.(?)" "p.(Ala38Thr)" "" "0000369824" "00021364" "57" "113" "0" "113" "0" "c.113C>A" "r.(?)" "p.(Ala38Asp)" "" "0000369826" "00021364" "55" "113" "0" "113" "0" "c.113C>T" "r.(?)" "p.(Ala38Val)" "" "0000369827" "00021364" "59" "117" "0" "120" "0" "c.117_120del" "r.(?)" "p.(Ile41Argfs*39)" "" "0000369828" "00021364" "59" "117" "0" "120" "0" "c.117_120del" "r.(?)" "p.(Ile41Argfs*39)" "" "0000369832" "00021364" "59" "117" "0" "120" "0" "c.117_120del" "r.(?)" "p.(Ile41Argfs*39)" "" "0000369833" "00021364" "59" "117" "0" "120" "0" "c.117_120del" "r.(?)" "p.(Ile41Argfs*39)" "" "0000369834" "00021364" "55" "131" "0" "131" "0" "c.131T>G" "r.(?)" "p.(Leu44Arg)" "" "0000369835" "00021364" "57" "140" "0" "140" "0" "c.140C>A" "r.(?)" "p.(Ala47Asp)" "" "0000369836" "00021364" "57" "154" "0" "154" "0" "c.154G>T" "r.(?)" "p.(Ala52Ser)" "" "0000369871" "00021364" "59" "190" "0" "191" "0" "c.190_191dup" "r.(?)" "p.(Gln64Hisfs*18)" "" "0000369872" "00021364" "59" "202" "0" "202" "0" "c.202del" "r.(?)" "p.(Val68Serfs*13)" "" "0000369873" "00021364" "59" "215" "0" "215" "0" "c.215T>A" "r.(?)" "p.(Leu72*)" "" "0000369874" "00021364" "55" "221" "0" "221" "0" "c.221A>C" "r.(?)" "p.(Tyr74Ser)" "" "0000369875" "00021364" "59" "222" "0" "222" "0" "c.222T>A" "r.(?)" "p.(Tyr74*)" "" "0000369876" "00021364" "99" "248" "0" "248" "0" "c.248del" "r.(?)" "p.(Phe83Serfs*3)" "" "0000369901" "00021364" "55" "259" "0" "259" "0" "c.259C>T" "r.(?)" "p.(Pro87Ser)" "" "0000369902" "00021364" "55" "268" "0" "268" "0" "c.268G>A" "r.(?)" "p.(Val90Met)" "" "0000369903" "00021364" "55" "268" "0" "268" "0" "c.268G>A" "r.(?)" "p.(Val90Met)" "" "0000369904" "00021364" "79" "308" "0" "308" "0" "c.308del" "r.(?)" "p.(Gly103Alafs*21)" "" "0000369905" "00021364" "57" "319" "0" "321" "0" "c.319_321del" "r.(?)" "p.(Ser107del)" "" "0000369906" "00021364" "57" "325" "0" "325" "0" "c.325T>C" "r.(?)" "p.(Ser109Pro)" "" "0000369907" "00021364" "59" "410" "-1" "410" "-1" "c.410-1G>C" "r.spl?" "p.?" "" "0000369908" "00021364" "59" "413" "0" "413" "0" "c.413T>G" "r.(?)" "p.(Leu138Arg)" "" "0000369909" "00021364" "59" "415" "0" "415" "0" "c.415C>T" "r.(?)" "p.(Gln139*)" "" "0000369910" "00021364" "79" "418" "0" "418" "0" "c.418T>C" "r.(?)" "p.(Cys140Arg)" "" "0000369911" "00021364" "79" "419" "0" "419" "0" "c.419G>A" "r.(?)" "p.(Cys140Tyr)" "" "0000369912" "00021364" "79" "419" "0" "419" "0" "c.419G>A" "r.(?)" "p.(Cys140Tyr)" "" "0000369913" "00021364" "57" "462" "0" "462" "0" "c.462C>G" "r.(?)" "p.(Ile154Met)" "" "0000370489" "00021364" "99" "464" "0" "464" "0" "c.464T>A" "r.(?)" "p.(Leu155*)" "" "0000370490" "00021364" "99" "464" "0" "464" "0" "c.464T>A" "r.(?)" "p.(Leu155*)" "" "0000370491" "00021364" "99" "469" "0" "469" "0" "c.469C>T" "r.(?)" "p.(Gln157*)" "" "0000370492" "00021364" "99" "469" "0" "469" "0" "c.469C>T" "r.(?)" "p.(Gln157*)" "" "0000370493" "00021364" "59" "492" "0" "492" "0" "c.492C>G" "r.(?)" "p.(Tyr164*)" "" "0000370494" "00021364" "57" "518" "0" "518" "0" "c.518T>C" "r.(?)" "p.(Phe173Ser)" "" "0000370495" "00021364" "59" "532" "0" "532" "0" "c.532dup" "r.(?)" "p.(Tyr178Leufs*48)" "" "0000370496" "00021364" "59" "543" "0" "555" "0" "c.543_555dup" "r.(?)" "p.(Ala186Argfs*44)" "" "0000370497" "00021364" "57" "553" "0" "553" "0" "c.553G>A" "r.(?)" "p.(Gly185Arg)" "" "0000370498" "00021364" "57" "568" "0" "568" "0" "c.568G>A" "r.(?)" "p.(Ala190Thr)" "" "0000370499" "00021364" "59" "572" "0" "572" "0" "c.572del" "r.(?)" "p.(Thr191Argfs*116)" "" "0000370500" "00021364" "59" "572" "0" "572" "0" "c.572del" "r.(?)" "p.(Thr191Argfs*116)" "" "0000370501" "00021364" "53" "665" "0" "665" "0" "c.665C>T" "r.(?)" "p.(Ala222Val)" "" "0000370502" "00021364" "59" "572" "0" "572" "0" "c.572del" "r.(?)" "p.(Thr191Argfs*116)" "" "0000370503" "00021364" "79" "570" "0" "570" "0" "c.570del" "r.(?)" "p.(Thr191Argfs*116)" "" "0000370504" "00021364" "53" "665" "0" "665" "0" "c.665C>T" "r.(?)" "p.(Ala222Val)" "" "0000478201" "00021364" "70" "86" "0" "86" "0" "c.86del" "r.(?)" "p.(Arg29Leufs*52)" "" "0000517135" "00021364" "30" "409" "7" "409" "7" "c.409+7C>T" "r.(=)" "p.(=)" "" "0000517136" "00021364" "50" "187" "0" "187" "0" "c.187C>T" "r.(?)" "p.(Arg63Cys)" "" "0000650711" "00021364" "90" "475" "0" "475" "0" "c.475C>T" "r.(?)" "p.(Gln159*)" "" "0000654741" "00021364" "30" "565" "0" "565" "0" "c.565C>T" "r.(?)" "p.(Leu189=)" "" "0000800850" "00021364" "30" "191" "0" "191" "0" "c.191A>G" "r.(?)" "p.(Gln64Arg)" "" "0000800851" "00021364" "50" "-1997" "0" "-1997" "0" "c.-1997T>C" "r.(?)" "p.(=)" "" "0000850070" "00021364" "30" "409" "7" "409" "7" "c.409+7C>T" "r.(=)" "p.(=)" "" "0000923794" "00021364" "70" "410" "-2" "410" "-2" "c.410-2A>G" "r.spl?" "p.?" "" "0000923795" "00021364" "30" "268" "0" "268" "0" "c.268G>A" "r.(?)" "p.(Val90Met)" "" "0000923796" "00021364" "90" "30" "0" "30" "0" "c.30del" "r.(?)" "p.(Gly11Alafs*70)" "" "0000928665" "00021364" "70" "398" "0" "398" "0" "c.398A>G" "r.(?)" "p.(His133Arg)" "" "0000947979" "00021364" "50" "26" "0" "26" "0" "c.26T>G" "r.(?)" "p.(Leu9Arg)" "" "0000975461" "00021364" "50" "566" "0" "566" "0" "c.566T>C" "r.(?)" "p.(Leu189Pro)" "" "0000975462" "00021364" "30" "-59" "0" "-59" "0" "c.-59C>T" "r.(?)" "p.(=)" "" "0001024689" "00021364" "30" "522" "0" "522" "0" "c.522C>T" "r.(?)" "p.(Ala174=)" "" "0001047199" "00021364" "30" "409" "137" "409" "137" "c.409+137C>T" "r.(?)" "p.(?)" "" "0001048466" "00021364" "50" "607" "0" "607" "0" "c.607G>A" "r.(?)" "p.(Glu203Lys)" "" "0001048789" "00021364" "30" "268" "0" "268" "0" "c.268G>A" "r.(?)" "p.(Val90Met)" "" "0001048985" "00021364" "30" "245" "-26" "245" "-26" "c.245-26G>A" "r.(?)" "p.(?)" "" ## Screenings_To_Variants ## Do not remove or alter this header ## ## Count = 84 "{{screeningid}}" "{{variantid}}" "0000037311" "0000064436" "0000037312" "0000064437" "0000096434" "0000158428" "0000100736" "0000163103" "0000104417" "0000169142" "0000104420" "0000169145" "0000104421" "0000169146" "0000165646" "0000369381" "0000165647" "0000369382" "0000165649" "0000369384" "0000165650" "0000369385" "0000165651" "0000369386" "0000165652" "0000369387" "0000165653" "0000369388" "0000165654" "0000369389" "0000165655" "0000369390" "0000165656" "0000369391" "0000165657" "0000369392" "0000165658" "0000369393" "0000165659" "0000369394" "0000165660" "0000369395" "0000165661" "0000369396" "0000165663" "0000369398" "0000165664" "0000369399" "0000165665" "0000369400" "0000165666" "0000369401" "0000165668" "0000369402" "0000165672" "0000369406" "0000165673" "0000369407" "0000165674" "0000369408" "0000165675" "0000369409" "0000165677" "0000369411" "0000165678" "0000369412" "0000165679" "0000369413" "0000165680" "0000369414" "0000165681" "0000369415" "0000165682" "0000369416" "0000165980" "0000369821" "0000165981" "0000369824" "0000165982" "0000369826" "0000165983" "0000369827" "0000165984" "0000369828" "0000165985" "0000369832" "0000165986" "0000369833" "0000165987" "0000369834" "0000165988" "0000369835" "0000165989" "0000369836" "0000166008" "0000369871" "0000166009" "0000369872" "0000166010" "0000369873" "0000166011" "0000369874" "0000166012" "0000369875" "0000166013" "0000369876" "0000166037" "0000369901" "0000166038" "0000369902" "0000166039" "0000369903" "0000166040" "0000369904" "0000166041" "0000369905" "0000166042" "0000369906" "0000166043" "0000369907" "0000166044" "0000369908" "0000166045" "0000369909" "0000166046" "0000369910" "0000166047" "0000369911" "0000166048" "0000369912" "0000166049" "0000369913" "0000166077" "0000370489" "0000166078" "0000370490" "0000166079" "0000370491" "0000166080" "0000370492" "0000166081" "0000370493" "0000166082" "0000370494" "0000166083" "0000370495" "0000166084" "0000370496" "0000166085" "0000370497" "0000166086" "0000370498" "0000166087" "0000370499" "0000166088" "0000370500" "0000166089" "0000370501" "0000166090" "0000370502" "0000166091" "0000370503" "0000166092" "0000370504" "0000235445" "0000478201" "0000294022" "0000650711"