### LOVD-version 3000-30b ### Full data download ### To import, do not remove or alter this header ### ## Filter: (gene_public = BAP1) # 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}}" "BAP1" "BRCA1 associated protein-1 (ubiquitin carboxy-terminal hydrolase)" "3" "p21.31-p21.2" "unknown" "NG_031859.1" "UD_134408421365" "" "https://www.LOVD.nl/BAP1" "" "1" "950" "8314" "603089" "1" "1" "1" "1" "Establishment of this gene variant database (LSDB) was supported by the Leiden University Medical Center (LUMC), Leiden, Nederland." "" "g" "https://databases.lovd.nl/shared/refseq/BAP1_codingDNA.html" "1" "" "" "-1" "" "-1" "00001" "2012-02-23 00:00:00" "00006" "2017-06-24 12:54:51" "00000" "2025-11-25 15:14:03" ## 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}}" "00003269" "BAP1" "BRCA1 associated protein-1 (ubiquitin carboxy-terminal hydrolase)" "001" "NM_004656.2" "" "NP_004647.1" "" "" "" "-115" "3470" "2190" "52444009" "52435024" "" "0000-00-00 00:00:00" "" "" ## Diseases ## Do not remove or alter this header ## ## Count = 9 "{{id}}" "{{symbol}}" "{{name}}" "{{inheritance}}" "{{id_omim}}" "{{tissues}}" "{{features}}" "{{remarks}}" "{{created_by}}" "{{created_date}}" "{{edited_by}}" "{{edited_date}}" "00139" "ID" "intellectual disability (ID)" "" "" "" "" "" "00084" "2013-06-04 18:18:07" "00006" "2015-02-09 10:02:49" "00198" "?" "unclassified / mixed" "" "" "" "" "" "00006" "2013-09-13 14:21:47" "00006" "2024-11-23 09:38:12" "00681" "cancer, pancreatic" "cancer, pancreatic" "" "260350" "" "" "" "00006" "2014-09-25 23:29:40" "00006" "2019-08-28 08:24:29" "00764" "RCC" "carcinoma, renal cell (RCC)" "" "" "" "" "" "00006" "2014-09-25 23:29:40" "00006" "2015-12-08 23:50:05" "01544" "RB1" "retinoblastoma, type 1" "AD;SMu" "180200" "" "" "" "00006" "2014-09-25 23:29:40" "00006" "2025-01-14 18:01:23" "03606" "TPDS" "tumor predisposition syndrome (TPDS)" "AD" "614327" "" "" "" "00006" "2014-09-25 23:29:40" "00006" "2021-12-10 21:51:32" "05489" "cancer, colon" "cancer, colon" "" "" "" "" "" "00006" "2018-10-26 16:33:57" "" "" "05611" "NDD" "neurodevelopmental disorder (NDD)" "" "" "" "" "" "00006" "2019-06-19 12:27:20" "00006" "2024-12-13 11:12:21" "07056" "KURIS" "Kury-Isidor syndrome" "AD" "619762" "" "" "" "00006" "2023-12-24 13:30:59" "" "" ## Genes_To_Diseases ## Do not remove or alter this header ## ## Count = 2 "{{geneid}}" "{{diseaseid}}" "BAP1" "03606" "BAP1" "07056" ## Individuals ## Do not remove or alter this header ## ## Count = 20 "{{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}}" "00245804" "" "" "" "1" "" "03356" "{PMID:Schwartz 2019:31432501}" "" "" "" "" "" "0" "" "" "" "" "00274652" "" "" "" "1" "" "00596" "{PMID:Wu 2019:30548481}" "positive family history; maternal grandfather with malignant tumor (not clear); patient had brain, bone and pleural metastasis; patient deceased 63 months after diagnosis" "F" "?" "China" "" "0" "" "" "" "" "00307257" "" "" "" "1" "" "03753" "{PMID:Mendonca 2021:34478740}" "" "M" "" "Brazil" "" "0" "" "" "" "Patient 62" "00399524" "" "" "" "1" "" "00006" "{PMID:Kury 2022:35051358}" "" "F" "" "" "" "0" "" "" "" "Fam1Pat1" "00399525" "" "" "" "1" "" "00006" "{PMID:Kury 2022:35051358}" "" "M" "" "" "" "0" "" "" "" "Fam2Pat2" "00399526" "" "" "" "1" "" "00006" "{PMID:Berger 2017:28213671}, {PMID:Kury 2022:35051358}" "" "F" "" "" "" "0" "" "" "" "?;Fam3Pat3" "00399527" "" "" "" "1" "" "00006" "{PMID:Kury 2022:35051358}" "" "M" "" "" "" "0" "" "" "" "Fam4Pat4" "00399528" "" "" "" "1" "" "00006" "{PMID:Kury 2022:35051358}" "" "F" "" "" "" "0" "" "" "" "Fam5Pat5" "00399529" "" "" "" "1" "" "00006" "{PMID:Kury 2022:35051358}" "" "F" "" "" "" "0" "" "" "" "Fam6Pat6" "00399530" "" "" "" "1" "" "00006" "{PMID:Kury 2022:35051358}" "" "M" "" "" "" "0" "" "" "" "Fam7Pat7" "00399531" "" "" "" "1" "" "00006" "{PMID:Kury 2022:35051358}" "" "F" "" "" "" "0" "" "" "" "Fam8Pat8" "00399532" "" "" "" "1" "" "00006" "{PMID:Kury 2022:35051358}" "" "M" "" "" "" "0" "" "" "" "Fam9Pat9" "00399533" "" "" "" "1" "" "00006" "{PMID:Kury 2022:35051358}" "" "F" "" "" "" "0" "" "" "" "Fam10Pat10" "00399534" "" "" "" "1" "" "00006" "{PMID:Kury 2022:35051358}" "" "F" "" "" "" "0" "" "" "" "Fam11Pat11" "00415759" "" "" "" "1" "" "03514" "Sheth, unpublished" "" "M" "" "India" "" "0" "" "" "" "" "00444507" "" "" "" "1" "" "00006" "{PMID:Riquin 2023:37495270}" "patient" "F" "" "France" "" "0" "" "" "" "Pat9" "00449813" "" "" "" "1" "" "03544" "" "" "M" "-" "- (not applicable)" "" "" "" "" "white" "" "00460897" "" "" "" "1" "" "04796" "" "" "" "" "Netherlands" "" "0" "" "" "" "" "00460905" "" "" "" "1" "" "04796" "" "" "" "" "Netherlands" "" "0" "" "" "" "" "00465592" "" "" "" "1" "" "01164" "" "" "M" "no" "Germany" "" "0" "" "" "" "329845" ## Individuals_To_Diseases ## Do not remove or alter this header ## ## Count = 20 "{{individualid}}" "{{diseaseid}}" "00245804" "00681" "00274652" "00764" "00307257" "01544" "00399524" "05611" "00399525" "05611" "00399526" "05611" "00399527" "05611" "00399528" "05611" "00399529" "05611" "00399530" "05611" "00399531" "05611" "00399532" "05611" "00399533" "05611" "00399534" "05611" "00415759" "05489" "00444507" "05611" "00449813" "00139" "00460897" "00198" "00460905" "00198" "00465592" "07056" ## Phenotypes ## Do not remove or alter this header ## ## Note: Only showing Phenotype columns active for Diseases 00139, 00198, 00681, 00764, 01544, 03606, 05489, 05611, 07056 ## Count = 18 "{{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}}" "0000185667" "00681" "00245804" "03356" "Unknown" "" "Pancreatic ductal adenocarcinoma (PDAC) at age 80, and one first-degree relative with PDAC" "" "" "" "" "" "" "" "" "" "" "" "0000209591" "00764" "00274652" "00596" "Unknown" "" "clear cell renal cell carcinoma (HP:0006770)" "" "34y" "" "" "" "" "" "" "" "" "" "0000233061" "01544" "00307257" "03753" "Unknown" "" "Unilateral" "" "00y22m" "HP:0000486" "" "" "" "" "" "" "" "" "0000292629" "05611" "00399524" "00006" "Isolated (sporadic)" "10y" "weight 36.2 (+1.5), height 128.5 (-1.5), OFC 51 (-1); no growth failure; developmental/intellectual delay; 18m-walk; speech delay, first words mildly delayed, good conversation; no hypotonia; seizures, 20m-three febrile seizures; MRI brain normal; behavioural anomalies, emotional, sensitive, attention disorder; sleeping disorder; no cardiac anomalies; no eye anomalies; no urogenital/kidney anomalies; normal hands; normal feet; no feeding difficulties; facial dysmorphism, short nose, anteverted nares" "" "" "" "" "" "" "" "" "" "neurodevelopmental delay" "" "0000292630" "05611" "00399525" "00006" "Isolated (sporadic)" "3y" "weight 12.3 (-1.5), height 88.9 ( -1.5), OFC 47.9 (-2); no growth failure; developmental/intellectual delay; 19m-walk; speech delay, 1.5y-first words, delayed speech, deleting beginning/ending of words, difficult to understand; hypotonia; no seizures, 2y-one seizure like activity (eye rolling up only, no loss of consciousness), EEG 24h normal, MRI notmal normal at 3y and since then; 2y-MRI brain normal; behavioural anomalies, uncooperative, autistic features; bicuspid aortic valve; astigmatism; no urogenital/kidney anomalies; hands bilateral 3,4 fingers syndactyly; normal feet; sacral dimple; no feeding difficulties; facial dysmorphism, frontal bossing; absence of the depressor anguli muscle; recurrent episodes of otitis media/ear infection; required adenoidectomy and placement of two sets of ear tubes, which induced secondary bilateral mild conductive hearing loss" "" "" "" "" "" "" "" "" "" "neurodevelopmental delay" "" "0000292631" "05611" "00399526" "00006" "Isolated (sporadic)" "14y" "weight 48.6 (+0.5), height 149.4 (-2.5), OFC 56 (+1); growth failure; mild developmental/intellectual delay ; 18m-walk; speech delay, 3y-first words, speech delay; hypotonia; no seizures; behavioural anomalies, mild autism, attention deficit/hyperactivity disorder, Pervasive Developmental Disorder-Not Otherwise Specified (PDD-NOS), hyperactivity, tantrums, aggressive and impulsive actions, ‘lick and flip’, nail yanking, skin picking, self-hits, but no stereotypic behaviors; sleeping disorder; heart block; esotropia, strabismus; no urogenital/kidney anomalies; normal hands; normal feet; scoliosis; feeding difficulties; facial dysmorphism, coarse facial features with synophrys; frequent otitis media, precocious puberty, chronic constipation" "" "" "" "" "" "" "" "" "" "Smith-Magenis syndrome" "" "0000292632" "05611" "00399527" "00006" "Isolated (sporadic)" "6y" "weight 20 (-0.99), height 109.7 (-2.44 ), OFC 54.7 (+1.67); growth failure; developmental/intellectual delay; 2y-walk; speech delay, >1y-first words, delayed speech development; 11m-IQ97; hypotonia, mild, improved with age; no seizures; behavioural anomalies, autism spectrum disorder; sleeping disorder; no cardiac anomalies; no eye anomalies; no urogenital/kidney anomalies; hands short tapering fingers, short distal phalanges, especially thumbs; normal feet; no feeding difficulties; facial dysmorphism, square shaped face, long philtrum; hypertrichosis of arms back, legs hepatomegaly, dry skin of fingers and feet" "" "" "" "" "" "" "" "" "" "Wiedemann Steiner" "" "0000292633" "05611" "00399528" "00006" "Isolated (sporadic)" "11y5m" "weight 26.5 (-2), height 116 (-4.5), OFC 52 (-1); growth failure; severe developmental/intellectual delay ; not walking; speech delay, 3 y-first words, few words; hypotonia;; 3y-MRI brain normal; no cardiac anomalies; no eye anomalies; bilateral pyelectasis; normal hands; feet bilateral talipes equinovarus; scoliosis; facial dysmorphism, arched eyebrows; short nose; long philtrum; triangular mouth, arched eyebrows; short nose; long philtrum; triangular mouth; hypertrichosis" "" "" "" "" "" "" "" "" "" "Cornelia de Lange syndrome" "" "0000292634" "05611" "00399529" "00006" "Isolated (sporadic)" "15y" "weight 30 (-4.35), height 125.7 (-6), OFC 50 (-2.86); growth failure; severe developmental/intellectual delay ; not achieved walking; speech delay, not achieved first words, no speech; hypotonia; no seizures; 1y/2y/12y-MRI brain hypomyelination subcrotical white matter bilaterally in anterotemporal and subinsular areas, loss of white matter volume in the parieto-occipital areas with thin splenium, minimal volume loss vermis; behavioural anomalies, autism spectrum disorder; no cardiac anomalies; bilateral ptosis, hypermetropia, astigmatism.; no urogenital/kidney anomalies; hands brachdactyly, proximal implant of thumbs; feet bilateral talipes; short broad neck, thoraco-lumbal kyfosis, pterygyum, bilateral hip dysplasia; feeding difficulties; facial dysmorphism, short broad neck, thoraco-lumbal kyfosis, pterygyum, bilateral hip dysplasia; hypertrichosis" "" "" "" "" "" "" "" "" "" "neurodevelopmental delay" "" "0000292635" "05611" "00399530" "00006" "Isolated (sporadic)" "1y11m" "weight 12.17 (+0.03), height 78 (-3.18), OFC 49 (+0.56); growth failure; developmental/intellectual delay; 17m-walk; speech delay, 10m-first words, 23m-speech 20-30 words; no hypotonia; no seizures; no behavioural anomalies; normal hands; normal feet; facial dysmorphism, relative macrocephaly, slightly coarse features, downslanting palpebral fissures, low-set and posteriorly roated ears, short neck; cystic hygroma and enlarged fetal kidneys with polyhydramnios prenatally, recurrent otitis media, constipation" "" "" "" "" "" "" "" "" "" "mucopolysaccharidosis, Noonan syndrome" "" "0000292636" "05611" "00399531" "00006" "Isolated (sporadic)" "4y" "weight 13.7 (-1.28), height 90 (-2.71), OFC 50 (-0.01); growth failure; developmental/intellectual delay; 2.5y-walk; speech delay, 1y-first words, speech 4y-15 words, mostly communicates by whining or pointing; hypotonia very mildly low tone in extremities; 3m/13m/2y6m-MRI brain stable non-enhancing pineal gland cyst (benign); behavioural anomalies, sensitivity to food textures and sensory input; behavioral problems due to communication difficulties; no cardiac anomalies; exudative vitreoretinopathy, high myopia; no urogenital/kidney anomalies; normal hands; normal feet; feeding difficulties; facial dysmorphism, brachycephaly, square-shaped face, appears hyperteloric, simple ears with underfolding of helices, deep set eyes, wide spaced teeth, upturned nasal tip, long smooth philtrum; tracheomalacia at birth, very mild obstructive sleep apnea and periodic limb movement disorder, tooth abnormality (twin central incisor and large pulp chambers), pilomatricoma of the right temple" "" "" "" "" "" "" "" "" "" "neurodevelopmental delay" "" "0000292637" "05611" "00399532" "00006" "Isolated (sporadic)" "16y" "weight 50 (-1.17), height 142 (-3.69), OFC 53 (-1.41 ); growth failure; developmental/intellectual delay; 2y-walk; speech delay, delayed first words, simple conversation; no hypotonia; seizure, 14y- tegretol treatment; 14y-MRI brain \"empty sella\"; behavioural anomalies, sensitive, difficulty with changes, treated with Risperdal; no cardiac anomalies; no eye anomalies; no urogenital/kidney anomalies; hands bilateral 3,4 fingers syndactyly; feet repair left vertical talus, wide big toes; scattered nevi; no feeding difficulties; facial dysmorphism, patchy alopecia almost complete from age 3 years - black hair, no eyebrows. Weakness left mouth angle, \"scrotal tongue\" with midline indentation, high arched palate, protruding auricles; hearing loss- perforation of eardrums, 22y-wearing hearing aids; alopecia" "" "" "" "" "" "" "" "" "" "neurodevelopmental delay" "" "0000292638" "05611" "00399533" "00006" "Isolated (sporadic)" "8y4m" "weight 30 (+1), height 117.4 (-2), OFC 48 (+0 at 27m); growth failure; developmental/intellectual delay; 23m-walk; speech delay, 26m-first words, speech in sentences but difficult to understand because of articulation errors, can be jumbled together, especially when excited or tired; hypotonia; seizures, 5y-last seizure; 1m/9m/2y-MRI brain normal, mild prominence of ventricles and sulci;improved dilation of cortical sulci; social difficulties, meltdowns, sensory processing difficulties; ventricular septal defect, now closed; mild myopia, left exotropia; early VUR, left hydronephrosis; normal hands; normal feet; hyperlaxity; feeding difficulties; facial dysmorphism, mild wide-spacing of eyes, protruding ears, teneted upper lip" "" "" "" "" "" "" "" "" "" "mitochondrial disorder" "" "0000292639" "05611" "00399534" "00006" "Isolated (sporadic)" "12y1m" "weight 26 (-2.5), height 135.3 (-2), OFC 54.5 (+1); growth failure; developmental/intellectual delay; 15m-walk; speech delay, 1y-first words, delayed speech and language; no hypotonia; no seizures; 4m-MRI brain evidence of sinus disease and possible subtle asymmetry hippocampi; behavioural anomalies, attention deficit hyperactivity disorder, dyslexia; pain insensitivity; no cardiac anomalies; no eye anomalies; no urogenital/kidney anomalies; normal hands; normal feet" "" "" "" "" "" "" "" "" "" "neurodevelopmental delay" "" "0000307537" "05489" "00415759" "03514" "Unknown" "32y" "family history Bethesda; Moderately differentiated adenocarcinoma with abudant extracellular mucin+signet ring cells of Descending colon and Spenic flexure;" "" "" "" "" "tumor MSI" "" "" "" "" "colon cancer" "MSI" "0000333760" "05611" "00444507" "00006" "Isolated (sporadic)" "10y-20y" "Axial hypotonia, facial dysmorphism, severe global developmental delay predominantly on language, nystagmus" "" "" "" "" "" "" "" "" "" "neurodevelopmental disorders" "" "0000338959" "00139" "00449813" "03544" "Isolated (sporadic)" "" "HP:0002342, HP:0000729, HP:0000733, HP:0000271" "" "" "" "" "" "" "" "" "KURIS" "intellectual disability" "" "0000351140" "07056" "00465592" "01164" "Isolated (sporadic)" "08y" "Neurodevelopmental delay, Polycythemia, Hearing impairment, Lymphangioma" "" "" "" "" "" "" "" "" "" "" "" ## Screenings ## Do not remove or alter this header ## ## Count = 20 "{{id}}" "{{individualid}}" "{{variants_found}}" "{{owned_by}}" "{{created_by}}" "{{created_date}}" "{{edited_by}}" "{{edited_date}}" "{{Screening/Technique}}" "{{Screening/Template}}" "{{Screening/Tissue}}" "{{Screening/Remarks}}" "0000246916" "00245804" "1" "03356" "03356" "2019-07-08 18:44:10" "" "" "SEQ-NG" "DNA" "" "" "0000275812" "00274652" "1" "00596" "00596" "2020-01-02 10:22:42" "" "" "SEQ;SEQ-NG-I" "DNA" "Blood" "23 renal cancer predisposition genes screened; variant confirmed by Sanger SEQ" "0000308399" "00307257" "1" "03753" "03753" "2020-08-06 23:25:39" "" "" "SEQ-NG-I" "DNA" "blood/FFPE tumor" "160 genes" "0000400767" "00399524" "1" "00006" "00006" "2022-01-21 14:10:33" "" "" "SEQ;SEQ-NG" "DNA" "" "WES" "0000400768" "00399525" "1" "00006" "00006" "2022-01-21 14:10:33" "" "" "SEQ;SEQ-NG" "DNA" "" "WES" "0000400769" "00399526" "1" "00006" "00006" "2022-01-21 14:10:33" "" "" "SEQ;SEQ-NG" "DNA" "" "WES" "0000400770" "00399527" "1" "00006" "00006" "2022-01-21 14:10:33" "" "" "SEQ;SEQ-NG" "DNA" "" "WES" "0000400771" "00399528" "1" "00006" "00006" "2022-01-21 14:10:33" "" "" "SEQ;SEQ-NG" "DNA" "" "WES" "0000400772" "00399529" "1" "00006" "00006" "2022-01-21 14:10:33" "" "" "SEQ;SEQ-NG" "DNA" "" "WES" "0000400773" "00399530" "1" "00006" "00006" "2022-01-21 14:10:33" "" "" "SEQ;SEQ-NG" "DNA" "" "WES" "0000400774" "00399531" "1" "00006" "00006" "2022-01-21 14:10:33" "" "" "SEQ;SEQ-NG" "DNA" "" "WES" "0000400775" "00399532" "1" "00006" "00006" "2022-01-21 14:10:33" "" "" "SEQ;SEQ-NG" "DNA" "" "WES" "0000400776" "00399533" "1" "00006" "00006" "2022-01-21 14:10:33" "" "" "SEQ;SEQ-NG" "DNA" "" "WES" "0000400777" "00399534" "1" "00006" "00006" "2022-01-21 14:10:33" "" "" "SEQ;SEQ-NG" "DNA" "" "WES, WGS" "0000417040" "00415759" "1" "03514" "00006" "2022-08-15 19:59:03" "" "" "SEQ" "DNA" "" "panel MLH1, MSH2, MSH6, PMS2, EPCAM" "0000446075" "00444507" "1" "00006" "00006" "2023-12-24 18:16:19" "" "" "SEQ-NG" "DNA" "" "WES, WGS trio" "0000451408" "00449813" "1" "03544" "03544" "2024-05-16 08:40:22" "" "" "SEQ-NG-I" "DNA" "peripheral blood" "CES" "0000462529" "00460897" "1" "04796" "00006" "2024-11-05 16:15:00" "" "" "RT-PCR;SEQ;SEQ-NG" "DNA;RNA" "fibroblasts" "mRNA splicing analysis on tissue" "0000462537" "00460905" "1" "04796" "00006" "2024-11-05 16:15:00" "" "" "RT-PCR;SEQ;SEQ-NG" "DNA;RNA" "blood" "mRNA splicing analysis on tissue" "0000467240" "00465592" "1" "01164" "01164" "2025-05-22 11:12:24" "" "" "SEQ-NG-I" "DNA" "Blood" "" ## Screenings_To_Genes ## Do not remove or alter this header ## ## Count = 7 "{{screeningid}}" "{{geneid}}" "0000246916" "ATM" "0000246916" "BAP1" "0000275812" "BAP1" "0000275812" "TSC2" "0000462529" "BAP1" "0000462537" "BAP1" "0000467240" "BAP1" ## 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 = 134 "{{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}}" "0000249645" "0" "90" "3" "52437631" "52437631" "del" "0" "02325" "BAP1_000005" "g.52437631del" "" "" "" "BAP1(NM_004656.4):c.1530delT (p.I511Sfs*60)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.52403615del" "" "pathogenic" "" "0000249987" "0" "30" "3" "52437424" "52437424" "subst" "0.00346354" "02329" "BAP1_000004" "g.52437424A>G" "" "" "" "BAP1(NM_004656.2):c.1729+8T>C, BAP1(NM_004656.3):c.1729+8T>C (p.(=)), BAP1(NM_004656.4):c.1729+8T>C" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.52403408A>G" "" "likely benign" "" "0000250091" "0" "10" "3" "52437748" "52437748" "subst" "0.0048507" "02329" "BAP1_000030" "g.52437748A>C" "" "" "" "BAP1(NM_004656.4):c.1413T>G (p.A471=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.52403732A>C" "" "benign" "" "0000250399" "0" "30" "3" "52437734" "52437734" "subst" "7.31362E-5" "02329" "BAP1_000006" "g.52437734A>G" "" "" "" "BAP1(NM_004656.4):c.1427T>C (p.V476A)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.52403718A>G" "" "likely benign" "" "0000254078" "0" "30" "3" "52437424" "52437424" "subst" "0.00346354" "01943" "BAP1_000004" "g.52437424A>G" "" "" "" "BAP1(NM_004656.2):c.1729+8T>C, BAP1(NM_004656.3):c.1729+8T>C (p.(=)), BAP1(NM_004656.4):c.1729+8T>C" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.52403408A>G" "" "likely benign" "" "0000259583" "0" "30" "3" "52439216" "52439216" "subst" "0.00245277" "02325" "BAP1_000010" "g.52439216G>A" "" "" "" "BAP1(NM_004656.2):c.1026C>T (p.S342=), BAP1(NM_004656.3):c.1026C>T (p.(Ser342=)), BAP1(NM_004656.4):c.1026C>T (p.S342=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.52405200G>A" "" "likely benign" "" "0000259584" "0" "30" "3" "52440927" "52440927" "subst" "0" "02325" "BAP1_000012" "g.52440927G>A" "" "" "" "BAP1(NM_004656.3):c.581-4C>T (p.?), BAP1(NM_004656.4):c.581-4C>T" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.52406911G>A" "" "likely benign" "" "0000259709" "0" "50" "3" "52437774" "52437774" "subst" "0" "02325" "BAP1_000008" "g.52437774G>C" "" "" "" "BAP1(NM_004656.4):c.1387C>G (p.L463V)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.52403758G>C" "" "VUS" "" "0000259710" "0" "70" "3" "52441235" "52441235" "subst" "0" "02325" "BAP1_000013" "g.52441235G>A" "" "" "" "BAP1(NM_004656.2):c.535C>T (p.R179W), BAP1(NM_004656.3):c.535C>T (p.(Arg179Trp)), BAP1(NM_004656.4):c.535C>T (p.R179W)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.52407219G>A" "" "likely pathogenic" "" "0000259788" "0" "90" "3" "52441477" "52441478" "del" "0" "02325" "BAP1_000017" "g.52441477_52441478del" "" "" "" "BAP1(NM_004656.4):c.376_377delAG (p.S126Qfs*16)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.52407461_52407462del" "" "pathogenic" "" "0000260327" "0" "10" "3" "52439240" "52439240" "subst" "0.00592893" "02329" "BAP1_000011" "g.52439240T>C" "" "" "" "BAP1(NM_004656.2):c.1002A>G (p.L334=), BAP1(NM_004656.3):c.1002A>G (p.(Leu334=)), BAP1(NM_004656.4):c.1002A>G (p.L334=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.52405224T>C" "" "benign" "" "0000260328" "0" "30" "3" "52439216" "52439216" "subst" "0.00245277" "02329" "BAP1_000010" "g.52439216G>A" "" "" "" "BAP1(NM_004656.2):c.1026C>T (p.S342=), BAP1(NM_004656.3):c.1026C>T (p.(Ser342=)), BAP1(NM_004656.4):c.1026C>T (p.S342=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.52405200G>A" "" "likely benign" "" "0000260329" "0" "30" "3" "52439168" "52439168" "subst" "4.06095E-6" "02329" "BAP1_000009" "g.52439168C>T" "" "" "" "BAP1(NM_004656.4):c.1074G>A (p.P358=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.52405152C>T" "" "likely benign" "" "0000260330" "0" "30" "3" "52437754" "52437754" "subst" "8.93808E-5" "02329" "BAP1_000007" "g.52437754G>A" "" "" "" "BAP1(NM_004656.2):c.1407C>T (p.S469=), BAP1(NM_004656.3):c.1407C>T (p.(Ser469=)), BAP1(NM_004656.4):c.1407C>T (p.S469=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.52403738G>A" "" "likely benign" "" "0000260331" "0" "10" "3" "52437258" "52437258" "subst" "0.00579549" "02329" "BAP1_000003" "g.52437258T>C" "" "" "" "BAP1(NM_004656.4):c.1786A>G (p.S596G)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.52403242T>C" "" "benign" "" "0000260332" "0" "10" "3" "52436441" "52436441" "subst" "0.00454593" "02329" "BAP1_000001" "g.52436441C>A" "" "" "" "BAP1(NM_004656.3):c.2057-4G>T (p.?), BAP1(NM_004656.4):c.2057-4G>T" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.52402425C>A" "" "benign" "" "0000260333" "0" "30" "3" "52441348" "52441348" "subst" "0" "02329" "BAP1_000015" "g.52441348G>A" "" "" "" "BAP1(NM_004656.4):c.438-16C>T" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.52407332G>A" "" "likely benign" "" "0000260334" "0" "30" "3" "52441349" "52441349" "subst" "0" "02329" "BAP1_000016" "g.52441349T>C" "" "" "" "BAP1(NM_004656.4):c.438-17A>G" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.52407333T>C" "" "likely benign" "" "0000263540" "0" "10" "3" "52439240" "52439240" "subst" "0.00592893" "01943" "BAP1_000011" "g.52439240T>C" "" "" "" "BAP1(NM_004656.2):c.1002A>G (p.L334=), BAP1(NM_004656.3):c.1002A>G (p.(Leu334=)), BAP1(NM_004656.4):c.1002A>G (p.L334=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.52405224T>C" "" "benign" "" "0000263541" "0" "30" "3" "52439216" "52439216" "subst" "0.00245277" "01943" "BAP1_000010" "g.52439216G>A" "" "" "" "BAP1(NM_004656.2):c.1026C>T (p.S342=), BAP1(NM_004656.3):c.1026C>T (p.(Ser342=)), BAP1(NM_004656.4):c.1026C>T (p.S342=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.52405200G>A" "" "likely benign" "" "0000263542" "0" "90" "3" "52443862" "52443862" "del" "0" "01943" "BAP1_000018" "g.52443862del" "" "" "" "BAP1(NM_004656.2):c.35delC (p.P12Qfs*60)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.52409846del" "" "pathogenic" "" "0000263543" "0" "50" "3" "52441236" "52441236" "subst" "0.000434553" "01943" "BAP1_000014" "g.52441236G>A" "" "" "" "BAP1(NM_004656.2):c.534C>T (p.G178=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.52407220G>A" "" "VUS" "" "0000338364" "0" "10" "3" "52437424" "52437424" "subst" "0.00346354" "02327" "BAP1_000004" "g.52437424A>G" "" "" "" "BAP1(NM_004656.2):c.1729+8T>C, BAP1(NM_004656.3):c.1729+8T>C (p.(=)), BAP1(NM_004656.4):c.1729+8T>C" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.52403408A>G" "" "benign" "" "0000338365" "0" "90" "3" "52440394" "52440394" "subst" "0" "02327" "BAP1_000024" "g.52440394T>C" "" "" "" "" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.52406378T>C" "" "pathogenic" "" "0000338366" "0" "90" "3" "52440925" "52440925" "subst" "0" "02327" "BAP1_000025" "g.52440925T>C" "" "" "" "" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.52406909T>C" "" "pathogenic" "" "0000340226" "0" "30" "3" "52439240" "52439240" "subst" "0.00592893" "02327" "BAP1_000011" "g.52439240T>C" "" "" "" "BAP1(NM_004656.2):c.1002A>G (p.L334=), BAP1(NM_004656.3):c.1002A>G (p.(Leu334=)), BAP1(NM_004656.4):c.1002A>G (p.L334=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.52405224T>C" "" "likely benign" "" "0000345483" "0" "70" "3" "52437432" "52437432" "subst" "0" "02327" "BAP1_000021" "g.52437432C>T" "" "" "" "" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.52403416C>T" "" "likely pathogenic" "" "0000346791" "0" "50" "3" "52436378" "52436378" "subst" "0" "02327" "BAP1_000019" "g.52436378T>C" "" "" "" "" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.52402362T>C" "" "VUS" "" "0000349226" "0" "70" "3" "52442057" "52442057" "subst" "0" "02327" "BAP1_000026" "g.52442057T>G" "" "" "" "BAP1(NM_004656.4):c.292A>C (p.S98R)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.52408041T>G" "" "likely pathogenic" "" "0000349816" "0" "90" "3" "52443880" "52443880" "subst" "0" "02327" "BAP1_000029" "g.52443880C>T" "" "" "" "" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.52409864C>T" "" "pathogenic" "" "0000499745" "0" "50" "3" "52436669" "52436669" "subst" "4.06058E-6" "03356" "BAP1_000031" "g.52436669G>A" "" "{PMID:Schwartz 2019:31432501}" "" "" "" "Germline" "" "" "0" "" "" "g.52402653G>A" "" "VUS" "" "0000520334" "0" "50" "3" "52430486" "52430486" "subst" "7.91668E-5" "01804" "DNAH1_000038" "g.52430486G>A" "" "" "" "DNAH1(NM_015512.4):c.11362G>A (p.(Gly3788Ser))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.52396470G>A" "" "VUS" "" "0000520335" "0" "50" "3" "52430920" "52430920" "subst" "0" "01943" "DNAH1_000039" "g.52430920G>A" "" "" "" "DNAH1(NM_015512.4):c.11647G>A (p.G3883S)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.52396904G>A" "" "VUS" "" "0000520336" "0" "30" "3" "52436441" "52436441" "subst" "0.00454593" "02327" "BAP1_000001" "g.52436441C>A" "" "" "" "BAP1(NM_004656.3):c.2057-4G>T (p.?), BAP1(NM_004656.4):c.2057-4G>T" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.52402425C>A" "" "likely benign" "" "0000520337" "0" "30" "3" "52436810" "52436810" "subst" "2.03028E-5" "01943" "DNAH1_000040" "g.52436810C>T" "" "" "" "BAP1(NM_004656.2):c.1968G>A (p.K656=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.52402794C>T" "" "likely benign" "" "0000520338" "0" "30" "3" "52436881" "52436881" "subst" "0" "02327" "DNAH1_000041" "g.52436881G>A" "" "" "" "" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.52402865G>A" "" "likely benign" "" "0000520340" "0" "90" "3" "52437281" "52437282" "ins" "0" "02327" "DNAH1_000042" "g.52437281_52437282insAATTG" "" "" "" "" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.52403265_52403266insAATTG" "" "pathogenic" "" "0000520341" "0" "30" "3" "52437424" "52437424" "subst" "0.00346354" "01804" "BAP1_000004" "g.52437424A>G" "" "" "" "BAP1(NM_004656.2):c.1729+8T>C, BAP1(NM_004656.3):c.1729+8T>C (p.(=)), BAP1(NM_004656.4):c.1729+8T>C" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.52403408A>G" "" "likely benign" "" "0000520342" "0" "10" "3" "52437748" "52437748" "subst" "0.0048507" "02327" "BAP1_000030" "g.52437748A>C" "" "" "" "BAP1(NM_004656.4):c.1413T>G (p.A471=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.52403732A>C" "" "benign" "" "0000520343" "0" "30" "3" "52439216" "52439216" "subst" "0.00245277" "01804" "BAP1_000010" "g.52439216G>A" "" "" "" "BAP1(NM_004656.2):c.1026C>T (p.S342=), BAP1(NM_004656.3):c.1026C>T (p.(Ser342=)), BAP1(NM_004656.4):c.1026C>T (p.S342=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.52405200G>A" "" "likely benign" "" "0000520344" "0" "30" "3" "52439282" "52439282" "subst" "0.00055658" "02327" "DNAH1_000043" "g.52439282G>A" "" "" "" "BAP1(NM_004656.4):c.960C>T (p.C320=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.52405266G>A" "" "likely benign" "" "0000520345" "0" "30" "3" "52439833" "52439833" "subst" "6.49841E-5" "02327" "BAP1_000032" "g.52439833C>T" "" "" "" "" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.52405817C>T" "" "likely benign" "" "0000520346" "0" "70" "3" "52440267" "52440267" "subst" "4.06273E-6" "01943" "BAP1_000033" "g.52440267A>G" "" "" "" "BAP1(NM_004656.2):c.783+2T>C, BAP1(NM_004656.3):c.783+2T>C (p.?)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.52406251A>G" "" "likely pathogenic" "" "0000520347" "0" "90" "3" "52440393" "52440393" "subst" "0" "02327" "BAP1_000034" "g.52440393C>T" "" "" "" "" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.52406377C>T" "" "pathogenic" "" "0000520348" "0" "30" "3" "52440853" "52440853" "subst" "0.000235789" "02329" "BAP1_000035" "g.52440853G>A" "" "" "" "BAP1(NM_004656.4):c.651C>T (p.A217=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.52406837G>A" "" "likely benign" "" "0000520349" "0" "90" "3" "52440899" "52440899" "subst" "0" "02327" "BAP1_000036" "g.52440899C>T" "" "" "" "" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.52406883C>T" "" "pathogenic" "" "0000520350" "0" "30" "3" "52441269" "52441269" "subst" "0.000694422" "01943" "BAP1_000037" "g.52441269C>T" "" "" "" "BAP1(NM_004656.2):c.501G>A (p.A167=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.52407253C>T" "" "likely benign" "" "0000520351" "0" "30" "3" "52441468" "52441468" "subst" "4.06068E-5" "01943" "BAP1_000038" "g.52441468T>G" "" "" "" "BAP1(NM_004656.2):c.384A>C (p.G128=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.52407452T>G" "" "likely benign" "" "0000520352" "0" "50" "3" "52442068" "52442068" "subst" "0" "02327" "BAP1_000039" "g.52442068T>C" "" "" "" "BAP1(NM_004656.2):c.281A>G (p.H94R)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.52408052T>C" "" "VUS" "" "0000520353" "0" "50" "3" "52443565" "52443565" "subst" "0" "02327" "BAP1_000040" "g.52443565C>G" "" "" "" "BAP1(NM_004656.4):c.122+5G>C" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.52409549C>G" "" "VUS" "" "0000520354" "0" "70" "3" "52443565" "52443565" "subst" "0" "02325" "BAP1_000040" "g.52443565C>G" "" "" "" "BAP1(NM_004656.4):c.122+5G>C" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.52409549C>G" "" "likely pathogenic" "" "0000608794" "0" "30" "3" "52436418" "52436418" "subst" "0" "02327" "DNAH1_000049" "g.52436418C>T" "" "" "" "" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.52402402C>T" "" "likely benign" "" "0000608795" "0" "30" "3" "52436611" "52436611" "subst" "2.4393E-5" "02327" "DNAH1_000050" "g.52436611C>T" "" "" "" "BAP1(NM_004656.3):c.2056+7G>A (p.(=))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.52402595C>T" "" "likely benign" "" "0000608796" "0" "90" "3" "52436691" "52436691" "subst" "0" "02327" "DNAH1_000051" "g.52436691C>T" "" "" "" "" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.52402675C>T" "" "pathogenic" "" "0000608797" "0" "90" "3" "52437263" "52437264" "ins" "0" "02327" "DNAH1_000053" "g.52437263_52437264insA" "" "" "" "" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.52403247_52403248insA" "" "pathogenic" "" "0000608798" "0" "30" "3" "52437753" "52437753" "subst" "6.90686E-5" "02327" "DNAH1_000054" "g.52437753C>T" "" "" "" "" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.52403737C>T" "" "likely benign" "" "0000608799" "0" "90" "3" "52439922" "52439922" "subst" "0" "02327" "BAP1_000041" "g.52439922T>A" "" "" "" "" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.52405906T>A" "" "pathogenic" "" "0000608800" "0" "90" "3" "52439930" "52439930" "subst" "0" "02327" "BAP1_000042" "g.52439930T>G" "" "" "" "" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.52405914T>G" "" "pathogenic" "" "0000608801" "0" "30" "3" "52439947" "52439947" "subst" "0" "02327" "BAP1_000043" "g.52439947G>A" "" "" "" "" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.52405931G>A" "" "likely benign" "" "0000608802" "0" "50" "3" "52440354" "52440354" "subst" "0" "02327" "BAP1_000044" "g.52440354A>C" "" "" "" "" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.52406338A>C" "" "VUS" "" "0000608803" "0" "90" "3" "52441976" "52441976" "subst" "0" "02327" "BAP1_000045" "g.52441976C>A" "" "" "" "" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.52407960C>A" "" "pathogenic" "" "0000621301" "0" "30" "3" "52437172" "52437172" "subst" "6.09806E-5" "01943" "DNAH1_000052" "g.52437172C>T" "" "" "" "BAP1(NM_004656.2):c.1872G>A (p.G624=), BAP1(NM_004656.3):c.1872G>A (p.(Gly624=)), BAP1(NM_004656.4):c.1872G>A (p.G624=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.52403156C>T" "" "likely benign" "" "0000621302" "0" "70" "3" "52442068" "52442068" "subst" "0" "01943" "BAP1_000039" "g.52442068T>C" "" "" "" "BAP1(NM_004656.2):c.281A>G (p.H94R)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.52408052T>C" "" "likely pathogenic" "" "0000629886" "0" "90" "3" "52443728" "52443728" "subst" "0" "00596" "BAP1_000046" "g.52443728A>G" "" "{PMID:Wu 2019:30548481}" "" "68+2T>C" "found with TSC2 frameshift c.5049_5050insGG" "Germline" "" "" "0" "" "" "g.52409712A>G" "" "pathogenic" "" "0000654999" "0" "30" "3" "52436661" "52436661" "subst" "0.000113701" "02327" "DNAH1_000064" "g.52436661G>A" "" "" "" "" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.52402645G>A" "" "likely benign" "" "0000677065" "0" "30" "3" "52436441" "52436441" "subst" "0.00454593" "01804" "BAP1_000001" "g.52436441C>A" "" "" "" "BAP1(NM_004656.3):c.2057-4G>T (p.?), BAP1(NM_004656.4):c.2057-4G>T" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000677066" "0" "30" "3" "52439211" "52439211" "subst" "1.62439E-5" "02327" "BAP1_000048" "g.52439211T>C" "" "" "" "" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000677067" "0" "30" "3" "52439313" "52439313" "subst" "0" "01943" "BAP1_000049" "g.52439313G>A" "" "" "" "BAP1(NM_004656.2):c.932-3C>T" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000682714" "0" "70" "3" "52437714" "52437714" "subst" "0" "03753" "BAP1_000047" "g.52437714G>A" "0.046" "{PMID:Mendonca 2021:34478740}" "" "" "" "Somatic" "" "" "" "" "" "" "" "pathogenic" "ACMG" "0000689123" "0" "30" "3" "52442055" "52442055" "subst" "0.000324276" "02329" "BAP1_000050" "g.52442055G>A" "" "" "" "BAP1(NM_004656.4):c.294C>T (p.S98=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000719545" "0" "30" "3" "52439282" "52439282" "subst" "0.00055658" "02329" "DNAH1_000043" "g.52439282G>A" "" "" "" "BAP1(NM_004656.4):c.960C>T (p.C320=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000719546" "0" "70" "3" "52441235" "52441235" "subst" "0" "02327" "BAP1_000013" "g.52441235G>A" "" "" "" "BAP1(NM_004656.2):c.535C>T (p.R179W), BAP1(NM_004656.3):c.535C>T (p.(Arg179Trp)), BAP1(NM_004656.4):c.535C>T (p.R179W)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely pathogenic" "" "0000719547" "0" "50" "3" "52441235" "52441235" "subst" "0" "02326" "BAP1_000013" "g.52441235G>A" "" "" "" "BAP1(NM_004656.2):c.535C>T (p.R179W), BAP1(NM_004656.3):c.535C>T (p.(Arg179Trp)), BAP1(NM_004656.4):c.535C>T (p.R179W)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000801325" "0" "10" "3" "52436459" "52436459" "subst" "0.00415756" "02369" "BAP1_000051" "g.52436459T>G" "" "" "" "BAP1(NM_004656.2):c.2057-22A>C" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "benign" "" "0000801326" "0" "50" "3" "52441316" "52441316" "subst" "0" "02325" "BAP1_000052" "g.52441316G>A" "" "" "" "BAP1(NM_004656.4):c.454C>T (p.L152F)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000833751" "0" "90" "3" "52443861" "52443861" "subst" "0" "00006" "BAP1_000060" "g.52443861G>T" "" "{PMID:Kury 2022:35051358}" "" "" "" "De novo" "" "" "0" "" "" "g.52409845G>T" "SCV001572228" "pathogenic (dominant)" "" "0000833752" "0" "90" "3" "52443861" "52443861" "subst" "0" "00006" "BAP1_000061" "g.52443861G>C" "" "{PMID:Kury 2022:35051358}" "" "" "" "De novo" "" "" "0" "" "" "g.52409845G>C" "SCV001738368" "pathogenic (dominant)" "" "0000833753" "0" "90" "3" "52443601" "52443601" "subst" "0" "00006" "BAP1_000053" "g.52443601C>T" "" "{PMID:Berger 2017:28213671}, {PMID:Kury 2022:35051358}" "" "" "" "De novo" "" "" "0" "" "" "g.52409585C>T" "SCV001738369" "pathogenic (dominant)" "" "0000833754" "0" "90" "3" "52442599" "52442599" "subst" "0" "00006" "BAP1_000059" "g.52442599A>G" "" "{PMID:Kury 2022:35051358}" "" "" "" "De novo" "" "" "0" "" "" "g.52408583A>G" "SCV001738370" "pathogenic (dominant)" "" "0000833755" "0" "90" "3" "52442077" "52442077" "subst" "0" "00006" "BAP1_000056" "g.52442077C>G" "" "{PMID:Kury 2022:35051358}" "" "" "" "De novo" "" "" "0" "" "" "g.52408061C>G" "SCV001738372" "pathogenic (dominant)" "" "0000833756" "0" "90" "3" "52442078" "52442078" "subst" "0" "00006" "BAP1_000057" "g.52442078A>C" "" "{PMID:Kury 2022:35051358}" "" "" "" "De novo" "" "" "0" "" "" "g.52408062A>C" "SCV001738373" "pathogenic (dominant)" "" "0000833757" "0" "90" "3" "52442078" "52442078" "subst" "0" "00006" "BAP1_000058" "g.52442078A>G" "" "{PMID:Kury 2022:35051358}" "" "" "" "De novo" "" "" "0" "" "" "g.52408062A>G" "SCV001738374" "pathogenic (dominant)" "" "0000833758" "0" "90" "3" "52442078" "52442078" "subst" "0" "00006" "BAP1_000058" "g.52442078A>G" "" "{PMID:Kury 2022:35051358}" "" "" "" "De novo" "" "" "0" "" "" "g.52408062A>G" "SCV001738374" "pathogenic (dominant)" "" "0000833759" "0" "90" "3" "52441264" "52441264" "subst" "0" "00006" "BAP1_000055" "g.52441264T>C" "" "{PMID:Kury 2022:35051358}" "" "" "" "De novo" "" "" "0" "" "" "g.52407248T>C" "SCV001738375" "pathogenic (dominant)" "" "0000833760" "0" "90" "3" "52441264" "52441264" "subst" "0" "00006" "BAP1_000055" "g.52441264T>C" "" "{PMID:Kury 2022:35051358}" "" "" "" "De novo" "" "" "0" "" "" "g.52407248T>C" "SCV001738375" "pathogenic (dominant)" "" "0000833761" "0" "90" "3" "52436341" "52436341" "subst" "0" "00006" "BAP1_000054" "g.52436341C>T" "" "{PMID:Kury 2022:35051358}" "" "" "" "De novo" "" "" "0" "" "" "g.52402325C>T" "SCV001738376" "pathogenic (dominant)" "" "0000850380" "0" "70" "3" "52436306" "52436306" "subst" "0" "02327" "BAP1_000062" "g.52436306A>C" "" "" "" "" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely pathogenic" "" "0000850381" "0" "90" "3" "52437276" "52437276" "subst" "0" "02327" "BAP1_000063" "g.52437276G>A" "" "" "" "" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "pathogenic" "" "0000859099" "0" "30" "3" "52437754" "52437754" "subst" "8.93808E-5" "01943" "BAP1_000007" "g.52437754G>A" "" "" "" "BAP1(NM_004656.2):c.1407C>T (p.S469=), BAP1(NM_004656.3):c.1407C>T (p.(Ser469=)), BAP1(NM_004656.4):c.1407C>T (p.S469=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000859100" "0" "10" "3" "52439216" "52439216" "subst" "0.00245277" "02326" "BAP1_000010" "g.52439216G>A" "" "" "" "BAP1(NM_004656.2):c.1026C>T (p.S342=), BAP1(NM_004656.3):c.1026C>T (p.(Ser342=)), BAP1(NM_004656.4):c.1026C>T (p.S342=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "benign" "" "0000859101" "0" "50" "3" "52442078" "52442078" "subst" "0" "01943" "BAP1_000057" "g.52442078A>C" "" "" "" "BAP1(NM_004656.2):c.271T>G (p.C91G)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000876536" "0" "50" "3" "52437153" "52444009" "dup" "0" "03514" "BAP1_000064" "g.(52436888_52437153)_(52444009_?)dup" "" "Sheth, unpublished" "" "" "" "Germline" "" "" "0" "" "" "g.(52402872_52403137)_(52409993_?)dup" "" "VUS" "" "0000885925" "0" "50" "3" "52437527" "52437527" "subst" "8.12691E-6" "02329" "BAP1_000065" "g.52437527C>T" "" "" "" "BAP1(NM_004656.4):c.1634G>A (p.R545H)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000885926" "0" "30" "3" "52439216" "52439216" "subst" "0.00245277" "02327" "BAP1_000010" "g.52439216G>A" "" "" "" "BAP1(NM_004656.2):c.1026C>T (p.S342=), BAP1(NM_004656.3):c.1026C>T (p.(Ser342=)), BAP1(NM_004656.4):c.1026C>T (p.S342=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000885927" "0" "70" "3" "52442057" "52442057" "subst" "0" "02329" "BAP1_000026" "g.52442057T>G" "" "" "" "BAP1(NM_004656.4):c.292A>C (p.S98R)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely pathogenic" "" "0000885928" "0" "90" "3" "52443729" "52443729" "subst" "0" "02327" "BAP1_000066" "g.52443729C>A" "" "" "" "" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "pathogenic" "" "0000911976" "0" "30" "3" "52436835" "52436835" "subst" "8.12117E-6" "02327" "BAP1_000067" "g.52436835G>A" "" "" "" "" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000911977" "0" "90" "3" "52442623" "52442623" "subst" "0" "02327" "BAP1_000068" "g.52442623C>T" "" "" "" "" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "pathogenic" "" "0000922458" "0" "90" "3" "52441266" "52441266" "del" "0" "03779" "BAP1_000069" "g.52441266del" "" "" "" "" "" "Unknown" "" "" "0" "" "" "" "" "pathogenic" "" "0000923969" "0" "70" "3" "52436659" "52436659" "subst" "0" "02327" "BAP1_000070" "g.52436659T>C" "" "" "" "" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely pathogenic" "" "0000923970" "0" "90" "3" "52442565" "52442565" "del" "0" "02329" "BAP1_000027" "g.52442565del" "" "" "" "BAP1(NM_004656.4):c.182delA (p.K61Rfs*11)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "pathogenic" "" "0000923971" "0" "90" "3" "52443734" "52443734" "del" "0" "02329" "BAP1_000071" "g.52443734del" "" "" "" "BAP1(NM_004656.4):c.65delT (p.F22Sfs*50)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "pathogenic" "" "0000928813" "0" "50" "3" "52440927" "52440927" "subst" "0" "01804" "BAP1_000012" "g.52440927G>A" "" "" "" "BAP1(NM_004656.3):c.581-4C>T (p.?), BAP1(NM_004656.4):c.581-4C>T" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000948192" "0" "30" "3" "52439240" "52439240" "subst" "0.00592893" "01804" "BAP1_000011" "g.52439240T>C" "" "" "" "BAP1(NM_004656.2):c.1002A>G (p.L334=), BAP1(NM_004656.3):c.1002A>G (p.(Leu334=)), BAP1(NM_004656.4):c.1002A>G (p.L334=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000948193" "0" "30" "3" "52440258" "52440258" "del" "0" "02327" "BAP1_000072" "g.52440258del" "" "" "" "" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000954333" "0" "90" "3" "52442077" "52442077" "subst" "0" "00006" "BAP1_000056" "g.52442077C>G" "" "{PMID:Riquin 2023:37495270}" "" "" "ACMG PS2, PM1, PM2, PM5, PP3; more support for pathogenicity" "De novo" "" "" "0" "" "" "g.52408061C>G" "" "pathogenic" "ACMG" "0000975925" "0" "30" "3" "52437754" "52437754" "subst" "8.93808E-5" "01804" "BAP1_000007" "g.52437754G>A" "" "" "" "BAP1(NM_004656.2):c.1407C>T (p.S469=), BAP1(NM_004656.3):c.1407C>T (p.(Ser469=)), BAP1(NM_004656.4):c.1407C>T (p.S469=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000985279" "0" "70" "3" "52436411" "52436411" "del" "0" "03544" "BAP1_000073" "g.52436411del" "" "" "" "" "" "De novo" "-" "" "0" "" "" "g.52402395del" "" "likely pathogenic" "ACMG" "0000993805" "0" "50" "3" "52436611" "52436611" "subst" "2.4393E-5" "01804" "DNAH1_000050" "g.52436611C>T" "" "" "" "BAP1(NM_004656.3):c.2056+7G>A (p.(=))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000993807" "0" "50" "3" "52440267" "52440267" "subst" "4.06273E-6" "01804" "BAP1_000033" "g.52440267A>G" "" "" "" "BAP1(NM_004656.2):c.783+2T>C, BAP1(NM_004656.3):c.783+2T>C (p.?)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000993808" "0" "30" "3" "52440315" "52440315" "subst" "0" "01804" "BAP1_000074" "g.52440315T>C" "" "" "" "BAP1(NM_004656.3):c.737A>G (p.(His246Arg))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000993809" "0" "50" "3" "52442494" "52442494" "subst" "0" "02325" "BAP1_000075" "g.52442494T>G" "" "" "" "BAP1(NM_004656.4):c.251A>C (p.H84P)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0001010053" "0" "50" "3" "52437716" "52437716" "subst" "4.06379E-6" "03779" "BAP1_000076" "g.52437716G>A" "" "" "" "" "" "CLASSIFICATION record" "" "rs753329341" "0" "" "" "" "" "VUS" "" "0001013907" "0" "10" "3" "52437258" "52437258" "subst" "0.00579549" "02327" "BAP1_000003" "g.52437258T>C" "" "" "" "BAP1(NM_004656.4):c.1786A>G (p.S596G)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "benign" "" "0001013908" "0" "30" "3" "52441251" "52441251" "subst" "0.000146192" "02325" "BAP1_000077" "g.52441251A>G" "" "" "" "BAP1(NM_004656.4):c.519T>C (p.Y173=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0001022056" "0" "70" "3" "52442545" "52442545" "subst" "0" "04796" "BAP1_000078" "g.52442545T>C" "" "" "" "" "effect on RNA exclusion of exon" "Germline/De novo (untested)" "" "" "0" "" "" "g.52408529T>C" "" "likely pathogenic" "" "0001022064" "0" "50" "3" "52441235" "52441235" "subst" "0" "04796" "BAP1_000013" "g.52441235G>A" "" "" "" "" "no effect on RNA" "Germline/De novo (untested)" "" "" "0" "" "" "g.52407219G>A" "" "VUS" "" "0001024841" "0" "30" "3" "52437172" "52437172" "subst" "6.09806E-5" "02329" "DNAH1_000052" "g.52437172C>T" "" "" "" "BAP1(NM_004656.2):c.1872G>A (p.G624=), BAP1(NM_004656.3):c.1872G>A (p.(Gly624=)), BAP1(NM_004656.4):c.1872G>A (p.G624=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0001024844" "0" "70" "3" "52441235" "52441235" "subst" "0" "01804" "BAP1_000013" "g.52441235G>A" "" "" "" "BAP1(NM_004656.2):c.535C>T (p.R179W), BAP1(NM_004656.3):c.535C>T (p.(Arg179Trp)), BAP1(NM_004656.4):c.535C>T (p.R179W)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely pathogenic" "" "0001024845" "0" "50" "3" "52441430" "52441430" "subst" "0" "02327" "BAP1_000079" "g.52441430T>C" "" "" "" "" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0001034075" "0" "30" "3" "52437172" "52437172" "subst" "6.09806E-5" "01804" "DNAH1_000052" "g.52437172C>T" "" "" "" "BAP1(NM_004656.2):c.1872G>A (p.G624=), BAP1(NM_004656.3):c.1872G>A (p.(Gly624=)), BAP1(NM_004656.4):c.1872G>A (p.G624=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0001034081" "0" "30" "3" "52441314" "52441314" "subst" "0" "02329" "BAP1_000080" "g.52441314G>A" "" "" "" "BAP1(NM_004656.4):c.456C>T (p.L152=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0001045017" "0" "70" "3" "52443601" "52443601" "subst" "0" "01164" "BAP1_000053" "g.52443601C>T" "" "" "" "" "ACMG: PS2, PS4_SUP, PM2_SUP, PP3; confirmed de novo; PMID 35051358/28213671" "De novo" "-" "" "0" "" "" "g.52409585C>T" "VCV001173078.7" "likely pathogenic (dominant)" "ACMG" "0001045109" "0" "90" "3" "52437629" "52437629" "del" "0" "03779" "BAP1_000081" "g.52437629del" "" "" "" "" "" "Unknown" "" "" "0" "" "" "" "" "pathogenic" "" "0001045930" "0" "50" "3" "52442549" "52442549" "subst" "0" "01804" "BAP1_000082" "g.52442549C>T" "" "" "" "BAP1(NM_004656.3):c.196G>A (p.(Val66Met))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0001045931" "0" "50" "3" "52442559" "52442559" "subst" "4.15386E-6" "01804" "BAP1_000083" "g.52442559G>A" "" "" "" "BAP1(NM_004656.3):c.186C>T (p.(Val62=))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0001047057" "0" "90" "3" "52438566" "52438566" "subst" "0" "03779" "BAP1_000084" "g.52438566G>A" "" "" "" "" "" "Unknown" "" "rs1553645164" "0" "" "" "" "" "pathogenic" "" "0001047229" "0" "10" "3" "52437748" "52437748" "subst" "0.0048507" "03779" "BAP1_000030" "g.52437748A>C" "" "" "" "" "" "Unknown" "" "rs34736117" "0" "" "" "" "" "benign" "" "0001047253" "0" "50" "3" "52438502" "52438502" "subst" "2.46178E-5" "03779" "DNAH1_000107" "g.52438502T>G" "" "" "" "" "" "Unknown" "" "rs535695655" "0" "" "" "" "" "VUS" "" "0001048433" "0" "90" "3" "52437447" "52437447" "del" "0" "03779" "BAP1_000085" "g.52437447del" "" "" "" "" "" "Unknown" "" "rs869025212" "0" "" "" "" "" "pathogenic" "" "0001049497" "0" "30" "3" "52439216" "52439216" "subst" "0.00245277" "03779" "BAP1_000010" "g.52439216G>A" "" "" "" "" "" "Unknown" "" "rs71651686" "0" "" "" "" "" "likely benign" "" "0001049498" "0" "30" "3" "52439216" "52439216" "subst" "0.00245277" "03779" "BAP1_000010" "g.52439216G>A" "" "" "" "" "" "Unknown" "" "rs71651686" "0" "" "" "" "" "likely benign" "" "0001051354" "0" "30" "3" "52440200" "52440200" "subst" "0" "02369" "BAP1_000086" "g.52440200T>C" "" "" "" "BAP1(NM_004656.4):c.783+69A>G" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0001059884" "0" "90" "3" "52442489" "52442489" "subst" "0" "03779" "BAP1_000087" "g.52442489C>G" "" "" "" "" "" "Unknown" "" "rs1060503750" "0" "" "" "" "" "pathogenic" "" ## Variants_On_Transcripts ## Do not remove or alter this header ## ## Please note that not necessarily all variants found in the given individuals are shown. This output is restricted to variants in the selected gene. ## Note: Only showing Variants_On_Transcript columns active for Genes BAP1 ## Count = 134 "{{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}}" "0000249645" "00003269" "90" "1530" "0" "1530" "0" "c.1530del" "r.(?)" "p.(Ile511SerfsTer60)" "" "0000249987" "00003269" "30" "1729" "8" "1729" "8" "c.1729+8T>C" "r.(=)" "p.(=)" "" "0000250091" "00003269" "10" "1413" "0" "1413" "0" "c.1413T>G" "r.(?)" "p.(Ala471=)" "" "0000250399" "00003269" "30" "1427" "0" "1427" "0" "c.1427T>C" "r.(?)" "p.(Val476Ala)" "" "0000254078" "00003269" "30" "1729" "8" "1729" "8" "c.1729+8T>C" "r.(=)" "p.(=)" "" "0000259583" "00003269" "30" "1026" "0" "1026" "0" "c.1026C>T" "r.(?)" "p.(Ser342=)" "" "0000259584" "00003269" "30" "581" "-4" "581" "-4" "c.581-4C>T" "r.spl?" "p.?" "" "0000259709" "00003269" "50" "1387" "0" "1387" "0" "c.1387C>G" "r.(?)" "p.(Leu463Val)" "" "0000259710" "00003269" "70" "535" "0" "535" "0" "c.535C>T" "r.(?)" "p.(Arg179Trp)" "" "0000259788" "00003269" "90" "376" "0" "377" "0" "c.376_377del" "r.(?)" "p.(Ser126GlnfsTer16)" "" "0000260327" "00003269" "10" "1002" "0" "1002" "0" "c.1002A>G" "r.(?)" "p.(Leu334=)" "" "0000260328" "00003269" "30" "1026" "0" "1026" "0" "c.1026C>T" "r.(?)" "p.(Ser342=)" "" "0000260329" "00003269" "30" "1074" "0" "1074" "0" "c.1074G>A" "r.(?)" "p.(Pro358=)" "" "0000260330" "00003269" "30" "1407" "0" "1407" "0" "c.1407C>T" "r.(?)" "p.(Ser469=)" "" "0000260331" "00003269" "10" "1786" "0" "1786" "0" "c.1786A>G" "r.(?)" "p.(Ser596Gly)" "" "0000260332" "00003269" "10" "2057" "-4" "2057" "-4" "c.2057-4G>T" "r.spl?" "p.?" "" "0000260333" "00003269" "30" "438" "-16" "438" "-16" "c.438-16C>T" "r.(=)" "p.(=)" "" "0000260334" "00003269" "30" "438" "-17" "438" "-17" "c.438-17A>G" "r.(=)" "p.(=)" "" "0000263540" "00003269" "10" "1002" "0" "1002" "0" "c.1002A>G" "r.(?)" "p.(Leu334=)" "" "0000263541" "00003269" "30" "1026" "0" "1026" "0" "c.1026C>T" "r.(?)" "p.(Ser342=)" "" "0000263542" "00003269" "90" "35" "0" "35" "0" "c.35del" "r.(?)" "p.(Pro12GlnfsTer60)" "" "0000263543" "00003269" "50" "534" "0" "534" "0" "c.534C>T" "r.(?)" "p.(Gly178=)" "" "0000338364" "00003269" "10" "1729" "8" "1729" "8" "c.1729+8T>C" "r.(=)" "p.(=)" "" "0000338365" "00003269" "90" "660" "-2" "660" "-2" "c.660-2A>G" "r.spl?" "p.?" "" "0000338366" "00003269" "90" "581" "-2" "581" "-2" "c.581-2A>G" "r.spl?" "p.?" "" "0000340226" "00003269" "30" "1002" "0" "1002" "0" "c.1002A>G" "r.(?)" "p.(Leu334=)" "" "0000345483" "00003269" "70" "1729" "0" "1729" "0" "c.1729G>A" "r.(?)" "p.(Glu577Lys)" "" "0000346791" "00003269" "50" "2116" "0" "2116" "0" "c.2116A>G" "r.(?)" "p.(Ile706Val)" "" "0000349226" "00003269" "70" "292" "0" "292" "0" "c.292A>C" "r.(?)" "p.(Ser98Arg)" "" "0000349816" "00003269" "90" "15" "0" "15" "0" "c.15G>A" "r.(?)" "p.(Trp5Ter)" "" "0000499745" "00003269" "50" "2005" "0" "2005" "0" "c.2005C>T" "r.(?)" "p.(His669Tyr)" "16" "0000520334" "00003269" "50" "8008" "0" "8008" "0" "c.*5818C>T" "r.(=)" "p.(=)" "" "0000520335" "00003269" "50" "7574" "0" "7574" "0" "c.*5384C>T" "r.(=)" "p.(=)" "" "0000520336" "00003269" "30" "2057" "-4" "2057" "-4" "c.2057-4G>T" "r.spl?" "p.?" "" "0000520337" "00003269" "30" "1968" "0" "1968" "0" "c.1968G>A" "r.(?)" "p.(Lys656=)" "" "0000520338" "00003269" "30" "1897" "0" "1897" "0" "c.1897C>T" "r.(?)" "p.(Leu633=)" "" "0000520340" "00003269" "90" "1766" "0" "1767" "0" "c.1766_1767insTCAAT" "r.(?)" "p.(Gly591SerfsTer28)" "" "0000520341" "00003269" "30" "1729" "8" "1729" "8" "c.1729+8T>C" "r.(=)" "p.(=)" "" "0000520342" "00003269" "10" "1413" "0" "1413" "0" "c.1413T>G" "r.(?)" "p.(Ala471=)" "" "0000520343" "00003269" "30" "1026" "0" "1026" "0" "c.1026C>T" "r.(?)" "p.(Ser342=)" "" "0000520344" "00003269" "30" "960" "0" "960" "0" "c.960C>T" "r.(?)" "p.(Cys320=)" "" "0000520345" "00003269" "30" "879" "0" "879" "0" "c.879G>A" "r.(?)" "p.(Pro293=)" "" "0000520346" "00003269" "70" "783" "2" "783" "2" "c.783+2T>C" "r.spl?" "p.?" "" "0000520347" "00003269" "90" "660" "-1" "660" "-1" "c.660-1G>A" "r.spl?" "p.?" "" "0000520348" "00003269" "30" "651" "0" "651" "0" "c.651C>T" "r.(?)" "p.(Ala217=)" "" "0000520349" "00003269" "90" "605" "0" "605" "0" "c.605G>A" "r.(?)" "p.(Trp202Ter)" "" "0000520350" "00003269" "30" "501" "0" "501" "0" "c.501G>A" "r.(?)" "p.(Ala167=)" "" "0000520351" "00003269" "30" "384" "0" "384" "0" "c.384A>C" "r.(?)" "p.(Gly128=)" "" "0000520352" "00003269" "50" "281" "0" "281" "0" "c.281A>G" "r.(?)" "p.(His94Arg)" "" "0000520353" "00003269" "50" "122" "5" "122" "5" "c.122+5G>C" "r.spl?" "p.?" "" "0000520354" "00003269" "70" "122" "5" "122" "5" "c.122+5G>C" "r.spl?" "p.?" "" "0000608794" "00003269" "30" "2076" "0" "2076" "0" "c.2076G>A" "r.(?)" "p.(Val692=)" "" "0000608795" "00003269" "30" "2056" "7" "2056" "7" "c.2056+7G>A" "r.(=)" "p.(=)" "" "0000608796" "00003269" "90" "1984" "-1" "1984" "-1" "c.1984-1G>A" "r.spl?" "p.?" "" "0000608797" "00003269" "90" "1780" "0" "1781" "0" "c.1780_1781insT" "r.(?)" "p.(Gly594ValfsTer49)" "" "0000608798" "00003269" "30" "1408" "0" "1408" "0" "c.1408G>A" "r.(?)" "p.(Gly470Arg)" "" "0000608799" "00003269" "90" "790" "0" "790" "0" "c.790A>T" "r.(?)" "p.(Arg264Ter)" "" "0000608800" "00003269" "90" "784" "-2" "784" "-2" "c.784-2A>C" "r.spl?" "p.?" "" "0000608801" "00003269" "30" "784" "-19" "784" "-19" "c.784-19C>T" "r.(=)" "p.(=)" "" "0000608802" "00003269" "50" "698" "0" "698" "0" "c.698T>G" "r.(?)" "p.(Val233Gly)" "" "0000608803" "00003269" "90" "373" "0" "373" "0" "c.373G>T" "r.(?)" "p.(Glu125Ter)" "" "0000621301" "00003269" "30" "1872" "0" "1872" "0" "c.1872G>A" "r.(?)" "p.(Gly624=)" "" "0000621302" "00003269" "70" "281" "0" "281" "0" "c.281A>G" "r.(?)" "p.(His94Arg)" "" "0000629886" "00003269" "90" "67" "2" "67" "2" "c.67+2T>C" "r.spl?" "p.?" "" "0000654999" "00003269" "30" "2013" "0" "2013" "0" "c.2013C>T" "r.(?)" "p.(Tyr671=)" "" "0000677065" "00003269" "30" "2057" "-4" "2057" "-4" "c.2057-4G>T" "r.spl?" "p.?" "" "0000677066" "00003269" "30" "1031" "0" "1031" "0" "c.1031A>G" "r.(?)" "p.(Asn344Ser)" "" "0000677067" "00003269" "30" "932" "-3" "932" "-3" "c.932-3C>T" "r.spl?" "p.?" "" "0000682714" "00003269" "70" "1447" "0" "1447" "0" "c.1447C>T" "r.(?)" "p.(Gln483*)" "" "0000689123" "00003269" "30" "294" "0" "294" "0" "c.294C>T" "r.(?)" "p.(Ser98=)" "" "0000719545" "00003269" "30" "960" "0" "960" "0" "c.960C>T" "r.(?)" "p.(Cys320=)" "" "0000719546" "00003269" "70" "535" "0" "535" "0" "c.535C>T" "r.(?)" "p.(Arg179Trp)" "" "0000719547" "00003269" "50" "535" "0" "535" "0" "c.535C>T" "r.(?)" "p.(Arg179Trp)" "" "0000801325" "00003269" "10" "2057" "-22" "2057" "-22" "c.2057-22A>C" "r.(=)" "p.(=)" "" "0000801326" "00003269" "50" "454" "0" "454" "0" "c.454C>T" "r.(?)" "p.(Leu152Phe)" "" "0000833751" "00003269" "90" "34" "0" "34" "0" "c.34C>A" "r.(?)" "p.(Pro12Thr)" "" "0000833752" "00003269" "90" "34" "0" "34" "0" "c.34C>G" "r.(?)" "p.(Pro12Ala)" "" "0000833753" "00003269" "90" "91" "0" "91" "0" "c.91G>A" "r.(?)" "p.(Glu31Lys)" "" "0000833754" "00003269" "90" "146" "0" "146" "0" "c.146T>C" "r.(?)" "p.(Leu49Pro)" "" "0000833755" "00003269" "90" "272" "0" "272" "0" "c.272G>C" "r.(?)" "p.(Cys91Ser)" "" "0000833756" "00003269" "90" "271" "0" "271" "0" "c.271T>G" "r.(?)" "p.(Cys91Gly)" "" "0000833757" "00003269" "90" "271" "0" "271" "0" "c.271T>C" "r.(?)" "p.(Cys91Arg)" "" "0000833758" "00003269" "90" "271" "0" "271" "0" "c.271T>C" "r.(?)" "p.(Cys91Arg)" "" "0000833759" "00003269" "90" "506" "0" "506" "0" "c.506A>G" "r.(?)" "p.(His169Arg)" "" "0000833760" "00003269" "90" "506" "0" "506" "0" "c.506A>G" "r.(?)" "p.(His169Arg)" "" "0000833761" "00003269" "90" "2153" "0" "2153" "0" "c.2153G>A" "r.(?)" "p.(Arg718Gln)" "" "0000850380" "00003269" "70" "2188" "0" "2188" "0" "c.2188T>G" "r.(?)" "p.(*730Glyext*205)" "" "0000850381" "00003269" "90" "1768" "0" "1768" "0" "c.1768C>T" "r.(?)" "p.(Gln590*)" "" "0000859099" "00003269" "30" "1407" "0" "1407" "0" "c.1407C>T" "r.(?)" "p.(Ser469=)" "" "0000859100" "00003269" "10" "1026" "0" "1026" "0" "c.1026C>T" "r.(?)" "p.(Ser342=)" "" "0000859101" "00003269" "50" "271" "0" "271" "0" "c.271T>G" "r.(?)" "p.(Cys91Gly)" "" "0000876536" "00003269" "50" "" "0" "" "0" "c.-115_(1890+1_1891-1){2}" "r.?" "p.0" "" "0000885925" "00003269" "50" "1634" "0" "1634" "0" "c.1634G>A" "r.(?)" "p.(Arg545His)" "" "0000885926" "00003269" "30" "1026" "0" "1026" "0" "c.1026C>T" "r.(?)" "p.(Ser342=)" "" "0000885927" "00003269" "70" "292" "0" "292" "0" "c.292A>C" "r.(?)" "p.(Ser98Arg)" "" "0000885928" "00003269" "90" "67" "1" "67" "1" "c.67+1G>T" "r.spl?" "p.?" "" "0000911976" "00003269" "30" "1943" "0" "1943" "0" "c.1943C>T" "r.(?)" "p.(Ala648Val)" "" "0000911977" "00003269" "90" "123" "-1" "123" "-1" "c.123-1G>A" "r.spl?" "p.?" "" "0000922458" "00003269" "90" "505" "0" "505" "0" "c.505del" "r.(?)" "p.(His169ThrfsTer18)" "" "0000923969" "00003269" "70" "2015" "0" "2015" "0" "c.2015A>G" "r.(?)" "p.(Asp672Gly)" "" "0000923970" "00003269" "90" "182" "0" "182" "0" "c.182del" "r.(?)" "p.(Lys61ArgfsTer11)" "" "0000923971" "00003269" "90" "65" "0" "65" "0" "c.65del" "r.(?)" "p.(Phe22Serfs*50)" "" "0000928813" "00003269" "50" "581" "-4" "581" "-4" "c.581-4C>T" "r.spl?" "p.?" "" "0000948192" "00003269" "30" "1002" "0" "1002" "0" "c.1002A>G" "r.(?)" "p.(Leu334=)" "" "0000948193" "00003269" "30" "783" "13" "783" "13" "c.783+13del" "r.(=)" "p.(=)" "" "0000954333" "00003269" "90" "272" "0" "272" "0" "c.272G>C" "r.(?)" "p.(Cys91Ser)" "" "0000975925" "00003269" "30" "1407" "0" "1407" "0" "c.1407C>T" "r.(?)" "p.(Ser469=)" "" "0000985279" "00003269" "70" "2084" "0" "2084" "0" "c.2084del" "r.(?)" "p.(Asn695Thrfs*41)" "17" "0000993805" "00003269" "50" "2056" "7" "2056" "7" "c.2056+7G>A" "r.(=)" "p.(=)" "" "0000993807" "00003269" "50" "783" "2" "783" "2" "c.783+2T>C" "r.spl?" "p.?" "" "0000993808" "00003269" "30" "737" "0" "737" "0" "c.737A>G" "r.(?)" "p.(His246Arg)" "" "0000993809" "00003269" "50" "251" "0" "251" "0" "c.251A>C" "r.(?)" "p.(His84Pro)" "" "0001010053" "00003269" "50" "1445" "0" "1445" "0" "c.1445C>T" "r.(?)" "p.(Ser482Leu)" "" "0001013907" "00003269" "10" "1786" "0" "1786" "0" "c.1786A>G" "r.(?)" "p.(Ser596Gly)" "" "0001013908" "00003269" "30" "519" "0" "519" "0" "c.519T>C" "r.(?)" "p.(=)" "" "0001022056" "00003269" "70" "200" "0" "200" "0" "c.200A>G" "r.[196_255del,=]" "p.[Val66_Gln85del,Asp67Gly]" "4" "0001022064" "00003269" "50" "535" "0" "535" "0" "c.535C>T" "r.535C>T" "p.Arg179Trp" "7" "0001024841" "00003269" "30" "1872" "0" "1872" "0" "c.1872G>A" "r.(?)" "p.(Gly624=)" "" "0001024844" "00003269" "70" "535" "0" "535" "0" "c.535C>T" "r.(?)" "p.(Arg179Trp)" "" "0001024845" "00003269" "50" "422" "0" "422" "0" "c.422A>G" "r.(?)" "p.(His141Arg)" "" "0001034075" "00003269" "30" "1872" "0" "1872" "0" "c.1872G>A" "r.(?)" "p.(Gly624=)" "" "0001034081" "00003269" "30" "456" "0" "456" "0" "c.456C>T" "r.(?)" "p.(=)" "" "0001045017" "00003269" "70" "91" "0" "91" "0" "c.91G>A" "r.(91G>A)" "p.(Glu31Lys)" "3" "0001045109" "00003269" "90" "1532" "0" "1532" "0" "c.1532del" "r.(?)" "p.(Ile511ThrfsTer60)" "" "0001045930" "00003269" "50" "196" "0" "196" "0" "c.196G>A" "r.(?)" "p.(Val66Met)" "" "0001045931" "00003269" "50" "186" "0" "186" "0" "c.186C>T" "r.(?)" "p.(=)" "" "0001047057" "00003269" "90" "1153" "0" "1153" "0" "c.1153C>T" "r.(?)" "p.(Arg385Ter)" "" "0001047229" "00003269" "10" "1413" "0" "1413" "0" "c.1413T>G" "r.(?)" "p.(Ala471=)" "" "0001047253" "00003269" "50" "1217" "0" "1217" "0" "c.1217A>C" "r.(?)" "p.(Glu406Ala)" "" "0001048433" "00003269" "90" "1717" "0" "1717" "0" "c.1717del" "r.(?)" "p.(Leu573TrpfsTer3)" "" "0001049497" "00003269" "30" "1026" "0" "1026" "0" "c.1026C>T" "r.(?)" "p.(Ser342=)" "" "0001049498" "00003269" "30" "1026" "0" "1026" "0" "c.1026C>T" "r.(?)" "p.(Ser342=)" "" "0001051354" "00003269" "30" "783" "69" "783" "69" "c.783+69A>G" "r.(=)" "p.(=)" "" "0001059884" "00003269" "90" "255" "1" "255" "1" "c.255+1G>C" "r.(?)" "p.(?)" "" ## Screenings_To_Variants ## Do not remove or alter this header ## ## Count = 20 "{{screeningid}}" "{{variantid}}" "0000246916" "0000499745" "0000275812" "0000629886" "0000308399" "0000682714" "0000400767" "0000833751" "0000400768" "0000833752" "0000400769" "0000833753" "0000400770" "0000833754" "0000400771" "0000833755" "0000400772" "0000833756" "0000400773" "0000833757" "0000400774" "0000833758" "0000400775" "0000833759" "0000400776" "0000833760" "0000400777" "0000833761" "0000417040" "0000876536" "0000446075" "0000954333" "0000451408" "0000985279" "0000462529" "0001022056" "0000462537" "0001022064" "0000467240" "0001045017"