Variants from Greenwood Genetic Center Diagnostic Laboratories, Greenwood Genetic Center with conflicting interpretations

Minimum review status of the submission from Greenwood Genetic Center Diagnostic Laboratories, Greenwood Genetic Center:	★☆☆☆ criteria provided ★★★☆ reviewed by expert panel ★★★★ practice guideline	Collection method of the submission from Greenwood Genetic Center Diagnostic Laboratories, Greenwood Genetic Center:	clinical testing curation literature only research other
Minimum review status of the other submission:	★☆☆☆ criteria provided ★★★☆ reviewed by expert panel ★★★★ practice guideline	Collection method of the other submission:	clinical testing curation literature only research other
Minimum conflict level: confidence conflict (e.g. benign vs likely benign) benign or likely benign vs uncertain conflict category conflict (e.g. benign vs affects) clinically significant conflict (e.g. benign vs pathogenic) Report conflict between different conditions
Show significances as they were submitted (without aggregation into standard terms)

If a variant has more than two submissions, it may have multiple conflicts and therefore be counted in more than one conflict column. If this is the case, the "Variants with any kind of conflict" cell will be less than the sum of the conflicted variants cells to its left.

Variants with only 1 submission per condition	Variants with at least 2 submissions on the same condition and no conflicts	Variants with a synonymous conflict (e.g. benign vs non-pathogenic)	Variants with a confidence conflict (e.g. benign vs likely benign)	Variants with a benign or likely benign vs uncertain conflict	Variants with a category conflict (e.g. benign vs affects)	Variants with a clinically significant conflict (e.g. benign vs pathogenic)	Variants with any conflict
3132	971	15	510	147	12	212	805

Significance breakdown #

In the table below, cells that correspond to a term paired with itself represent synonymous conflicts, i.e. variants that have been annotated with different terms that map to the same standard term. To compare the terms that were actually submitted, check the box in the filters section at the top of this page.

	All submitters
Greenwood Genetic Center Diagnostic Laboratories, Greenwood Genetic Center		pathogenic	likely pathogenic	uncertain significance	likely benign	benign	association	drug response	protective	other
	pathogenic	13	261	37	3	3	0	3	1	1
	likely pathogenic	240	1	76	3	2	0	1	0	0
	uncertain significance	45	66	1	133	32	2	1	0	4
	likely benign	0	0	0	0	1	0	0	0	0
	benign	0	0	0	8	0	0	0	0	0

Submitter to submitter summary #

Submitter	Variants with only 1 submission per condition	Variants with at least 2 submissions on the same condition and no conflicts	Variants with a synonymous conflict (e.g. benign vs non-pathogenic)	Variants with a confidence conflict (e.g. benign vs likely benign)	Variants with a benign or likely benign vs uncertain conflict	Variants with a category conflict (e.g. benign vs affects)	Variants with a clinically significant conflict (e.g. benign vs pathogenic)	Variants with any conflict
Labcorp Genetics (formerly Invitae), Labcorp	0	454	5	106	67	0	37	215
GeneDx	0	451	0	50	33	0	68	151
PreventionGenetics, part of Exact Sciences	0	175	1	22	35	0	16	74
Women's Health and Genetics/Laboratory Corporation of America, LabCorp	0	213	0	36	23	0	7	66
CeGaT Center for Human Genetics Tuebingen	0	155	0	14	31	0	20	65
Revvity Omics, Revvity	0	213	0	47	0	0	11	58
Fulgent Genetics, Fulgent Genetics	0	146	0	47	0	0	4	51
Baylor Genetics	0	161	0	42	0	0	8	50
OMIM	0	183	5	37	0	3	3	48
Ambry Genetics	0	127	0	7	20	0	9	36
Counsyl	0	35	0	26	0	0	5	31
Eurofins Ntd Llc (ga)	0	122	0	10	6	4	9	29
Department of Pathology and Laboratory Medicine, Sinai Health System	0	59	2	18	0	0	6	26
Laboratory for Molecular Medicine, Mass General Brigham Personalized Medicine	0	70	0	11	9	0	5	25
Mayo Clinic Laboratories, Mayo Clinic	0	127	0	9	11	0	5	25
Victorian Clinical Genetics Services, Murdoch Childrens Research Institute	0	108	0	21	0	0	3	24
Natera, Inc.	0	106	0	22	0	0	1	23
ARUP Laboratories, Molecular Genetics and Genomics, ARUP Laboratories	0	117	0	12	7	0	3	22
3billion	0	118	0	19	0	0	2	21
Genomic Medicine Center of Excellence, King Faisal Specialist Hospital and Research Centre	0	33	0	18	0	0	3	21
Institute of Human Genetics, University of Leipzig Medical Center	0	80	0	17	0	0	4	21
Athena Diagnostics	0	63	0	5	8	0	4	17
Illumina Laboratory Services, Illumina	0	84	0	12	0	0	5	17
Genome-Nilou Lab	0	55	0	15	0	0	1	16
Joint Genome Diagnostic Labs from Nijmegen and Maastricht, Radboudumc and MUMC+	0	58	0	9	3	0	3	15
Mendelics	0	48	0	13	0	0	2	15
Variantyx, Inc.	0	73	1	12	0	0	1	14
Genetic Services Laboratory, University of Chicago	0	53	0	9	1	1	1	12
Institute of Human Genetics Munich, TUM University Hospital	0	39	0	11	0	0	1	12
Myriad Genetics, Inc.	0	52	0	11	0	0	0	11
Quest Diagnostics Nichols Institute San Juan Capistrano	0	30	0	3	5	0	3	11
Diagnostic Laboratory, Department of Genetics, University Medical Center Groningen	0	33	0	6	4	0	0	10
Laboratory of Diagnostic Genome Analysis, Leiden University Medical Center (LUMC)	0	14	0	7	2	0	1	10
Centre for Mendelian Genomics, University Medical Centre Ljubljana	0	23	0	7	0	0	2	9
Clinical Genetics DNA and cytogenetics Diagnostics Lab, Erasmus MC, Erasmus Medical Center	0	58	0	2	4	0	3	9
Color Diagnostics, LLC DBA Color Health	0	20	0	6	2	0	1	9
Institute of Medical Genetics and Applied Genomics, University Hospital Tübingen	0	52	0	8	0	0	1	9
Center for Pediatric Genomic Medicine, Children's Mercy Hospital and Clinics	0	22	0	1	4	0	3	8
Institute for Clinical Genetics, University Hospital TU Dresden, University Hospital TU Dresden	0	15	0	4	0	0	4	8
Laboratory of Genetics, Children's Clinical University Hospital Latvia	0	17	0	3	3	0	2	8
MGZ Medical Genetics Center	0	47	0	7	0	0	1	8
AiLife Diagnostics, AiLife Diagnostics	0	17	0	3	0	0	4	7
Clinical Genetics, Academic Medical Center	0	23	0	3	3	0	1	7
Department of Human Genetics, Hannover Medical School	0	21	0	6	0	0	1	7
First Genomix Gene Laboratory, Genetic Diagnostics Department	0	24	0	7	0	0	0	7
Juno Genomics, Hangzhou Juno Genomics, Inc	0	35	0	7	0	0	0	7
Laboratorio de Genetica e Diagnostico Molecular, Hospital Israelita Albert Einstein	0	43	0	6	0	0	1	7
Rady Children's Institute for Genomic Medicine, Rady Children's Hospital San Diego	0	49	0	6	0	0	1	7
SIB Swiss Institute of Bioinformatics	0	8	0	7	0	0	0	7
Breakthrough Genomics, Breakthrough Genomics	0	33	0	1	5	0	0	6
Center for Genomic Medicine, Rigshospitalet, Copenhagen University Hospital	0	10	0	3	1	0	2	6
Dasa	0	67	0	5	0	0	1	6
Genome Diagnostics Laboratory, Amsterdam University Medical Center	0	22	0	2	1	0	3	6
Genomics England Pilot Project, Genomics England	0	8	0	6	0	0	0	6
LDLR-LOVD, British Heart Foundation	0	6	0	5	0	0	1	6
Neuberg Centre For Genomic Medicine, NCGM	0	33	0	5	0	0	1	6
Broad Center for Mendelian Genomics, Broad Institute of MIT and Harvard	0	19	0	3	0	0	2	5
Clinical Genetics Laboratory, Skane University Hospital Lund	0	46	0	3	0	0	2	5
Genome Diagnostics Laboratory, University Medical Center Utrecht	0	24	0	3	2	0	0	5
HudsonAlpha Institute for Biotechnology, HudsonAlpha Institute for Biotechnology	0	22	0	5	0	0	0	5
MVZ Martinsried, Medicover Genetics	0	4	0	4	0	0	1	5
NIHR Bioresource Rare Diseases, University of Cambridge	0	6	0	3	0	0	2	5
Undiagnosed Diseases Network, NIH	0	17	0	2	0	0	3	5
All of Us Research Program, National Institutes of Health	0	24	0	4	0	0	0	4
Centre de Génétique Moléculaire et Chromosomique, Unité de génétique de l'Obésité et des Dyslipidémies, APHP, GH Hôpitaux Universitaires Pitié-Salpêtrière / Charles-Foix	0	2	0	2	0	0	2	4
ClinPGx	0	0	0	0	0	4	0	4
Equipe Genetique des Anomalies du Developpement, Université de Bourgogne	0	23	0	4	0	0	0	4
Fundacion Hipercolesterolemia Familiar	0	3	0	2	0	0	2	4
Genomic Research Center, Shahid Beheshti University of Medical Sciences	0	8	0	3	0	0	1	4
Human Genome Sequencing Center Clinical Lab, Baylor College of Medicine	0	13	0	4	0	0	0	4
Institute for Genomic Medicine (IGM) Clinical Laboratory, Nationwide Children's Hospital	0	12	1	2	0	0	1	4
Laboratory of Genetics and Molecular Cardiology, University of São Paulo	0	3	0	1	0	0	3	4
Molecular Diagnostic Laboratory for Inherited Cardiovascular Disease, Montreal Heart Institute	0	11	0	1	2	0	1	4
Practice for Gait Abnormalities, David Pomarino, Competency Network Toe Walking C/o Practice Pomarino	0	4	0	2	0	0	2	4
Cancer Genetics Laboratory, Peter MacCallum Cancer Centre	0	0	0	3	0	0	0	3
Centre of Medical Genetics, University Hospital Muenster	0	9	0	0	0	0	3	3
Clinical Genetics Laboratory, University Hospital Schleswig-Holstein	0	16	0	2	0	0	1	3
Clinical Genomics Laboratory, Stanford Medicine	0	11	0	2	0	0	1	3
Genesolutions, Medical Genetics Institutes, Ho Chi Minh City, Vietnam	0	7	0	2	0	0	1	3
Genetics Laboratory, Great Ormond Street Hospital NHS Foundation Trust, North Thames Genomic Laboratory Hub	0	25	0	3	0	0	0	3
Laboratoire de Génétique Moléculaire, CHU Bordeaux	0	9	0	2	0	0	1	3
Laboratory of Medical Genetics, National & Kapodistrian University of Athens	0	35	0	3	0	0	0	3
Medical and Scientific Branch, Hong Kong Genome Institute	0	7	0	3	0	0	0	3
Molecular Diagnostics Lab, Nemours Children's Health, Delaware	0	10	0	3	0	0	0	3
Robarts Research Institute, Western University	0	1	0	3	0	0	0	3
Solve-RD Consortium	0	1	0	3	0	0	0	3
UNC Molecular Genetics Laboratory, University of North Carolina at Chapel Hill	0	17	0	3	0	0	0	3
Unidad de Genómica Garrahan, Hospital de Pediatría Garrahan	0	2	0	3	0	0	0	3
University of Washington Center for Mendelian Genomics, University of Washington	0	1	0	3	0	0	0	3
Biochemical Molecular Genetic Laboratory, King Abdulaziz Medical City	0	11	0	2	0	0	0	2
Blueprint Genetics	0	18	0	1	0	0	1	2
CENTOGENE GmbH and LLC - Guiding Precision Medicine	0	25	0	1	0	0	1	2
Cardiovascular Research Group, Instituto Nacional de Saude Doutor Ricardo Jorge	0	2	0	1	0	0	1	2
Center of Genomic medicine, Geneva, University Hospital of Geneva	0	5	0	2	0	0	0	2
ClinGen Familial Hypercholesterolemia Variant Curation Expert Panel	0	6	0	2	0	0	0	2
ClinVar Staff, National Center for Biotechnology Information (NCBI)	0	0	0	0	0	0	2	2
Clinical Genetics and Genomics, Karolinska University Hospital	0	12	0	2	0	0	0	2
Daryl Scott Lab, Baylor College of Medicine	0	17	0	2	0	0	0	2
Department of Genetics, Robert DEBRE University Hospital	0	0	0	2	0	0	0	2
Department of Genetics, Rouen University Hospital, Normandy Center for Genomic and Personalized Medicine	0	9	0	1	0	0	1	2
Division of Human Genetics, Children's Hospital of Philadelphia	0	18	0	2	0	0	0	2
Dunham Lab, University of Washington	0	1	0	1	0	0	1	2
Elsea Laboratory, Baylor College of Medicine	0	2	0	0	0	0	2	2
Genetics Department, Catlab	0	2	0	2	0	0	0	2
Genetics and Molecular Pathology, SA Pathology	0	30	0	2	0	0	0	2
GenomeConnect - Simons Searchlight	0	3	0	2	0	0	0	2
Genomics And Bioinformatics Analysis Resource, Columbia University	0	5	0	2	0	0	0	2
Gharavi Laboratory, Columbia University	0	4	0	0	0	0	2	2
Génétique des Maladies du Développement, Hospices Civils de Lyon	0	14	0	1	0	0	1	2
Hadassah Hebrew University Medical Center	0	4	0	2	0	0	0	2
Iberoamerican FH Network	0	1	0	0	0	0	2	2
Institute of Immunology and Genetics Kaiserslautern	0	17	0	1	0	0	1	2
Johns Hopkins Genomics, Johns Hopkins University	0	17	0	2	0	0	0	2
Knight Diagnostic Laboratories, Oregon Health and Sciences University	0	25	0	2	0	0	0	2
Laboratorium voor Moleculaire Diagnostiek Experimentele Vasculaire Geneeskunde, Academisch Medisch Centrum	0	6	0	2	0	0	0	2
Laboratory of Medical Genetics, University of Torino	0	3	0	2	0	0	0	2
Laboratory of molecular diagnosis of dyslipidemias, Università egli studi di Napoli Federico II	0	1	0	2	0	0	0	2
Molecular Genetics Laboratory, BC Children's and BC Women's Hospitals	0	6	0	2	0	0	0	2
Molecular Genetics Laboratory, Centre for Cardiovascular Surgery and Transplantation	0	2	0	2	0	0	0	2
New York Genome Center	0	29	0	2	0	0	0	2
OLLIN Analises Genomicas, OLLIN	0	15	0	2	0	0	0	2
Pittsburgh Clinical Genomics Laboratory, University of Pittsburgh Medical Center	0	16	0	2	0	0	0	2
St. Jude Molecular Pathology, St. Jude Children's Research Hospital	0	7	0	2	0	0	0	2
Stanford Center for Inherited Cardiovascular Disease, Stanford University	0	5	0	2	0	0	0	2
Suma Genomics	0	6	0	0	0	0	2	2
Tartaglia Lab, Genetics and Rare Diseases Research Division, Bambino Gesu' Children's Hospital	0	0	0	0	0	0	2	2
UCLA Clinical Genomics Center, UCLA	0	2	0	2	0	0	0	2
Agnes Ginges Centre for Molecular Cardiology, Centenary Institute	0	1	0	1	0	0	0	1
Albrecht-Kossel-Institute, Medical University Rostock	0	0	0	0	0	1	0	1
Amrita Institute of Medical Sciences and Research Centre, Amrita Vishwa Vidyapeetham	0	0	0	1	0	0	0	1
Angelo Bianchi Bonomi Hemophilia and Thrombosis Center, Fondazione IRCCS Ca Granda Ospedale Maggiore Policlinico	0	0	0	0	0	0	1	1
Beijing Key Laboratory for Genetic Research of Skeletal Deformity, Peking Union Medical College Hospital	0	6	0	1	0	0	0	1
Biesecker Lab/Clinical Genomics Section, National Institutes of Health	0	2	0	0	0	0	1	1
Biochemistry Laboratory of CDMU, Chengde Medical University	0	1	0	1	0	0	0	1
Bioinformatics Unit, Institut Pasteur de Montevideo	0	0	0	1	0	0	0	1
Breast Cancer Information Core (BIC) (BRCA1)	0	4	0	0	0	0	1	1
Brunham Lab, Centre for Heart and Lung Innovation, University of British Columbia	0	1	0	1	0	0	0	1
CFTR-France	0	1	0	1	0	0	0	1
CHEO Genetics Diagnostic Laboratory, Children's Hospital of Eastern Ontario	0	3	0	1	0	0	0	1
CSER _CC_NCGL, University of Washington	0	3	0	0	0	0	1	1
Cambridge Genomics Laboratory, East Genomic Laboratory Hub, NHS Genomic Medicine Service	0	11	0	1	0	0	0	1
Cardiovascular Genetics Laboratory, PathWest Laboratory Medicine WA - Fiona Stanley Hospital	0	2	0	1	0	0	0	1
Center for Genomics, Ann and Robert H. Lurie Children's Hospital of Chicago	0	4	0	1	0	0	0	1
Center for Human Genetics, Inc, Center for Human Genetics, Inc	0	11	0	1	0	0	0	1
Center for Medical Genetics Ghent, University of Ghent	0	3	0	1	0	0	0	1
Centre de Biologie Pathologie Génétique, Centre Hospitalier Universitaire de Lille	0	10	0	1	0	0	0	1
Centre for Clinical Genetics and Genomic Diagnostics, Zealand University Hospital	0	3	0	1	0	0	0	1
Centre for Genomic Medicine, Manchester, Central Manchester University Hospitals	0	1	0	1	0	0	0	1
Centre for Medical Genetics, Mumbai	0	0	0	0	0	0	1	1
Centre of Medical Genetics, University of Antwerp	0	0	0	1	0	0	0	1
ClinGen ACADVL Variant Curation Expert Panel, ClinGen	0	2	0	1	0	0	0	1
ClinGen Hereditary Hemorrhagic Telangiectasia Variant Curation Expert Panel, ClinGen	0	0	0	1	0	0	0	1
ClinGen PAH Variant Curation Expert Panel	0	7	0	1	0	0	0	1
Clingen PTEN Variant Curation Expert Panel, Clingen	0	0	0	1	0	0	0	1
Clinical Genetics Laboratory, Department of Pathology, Netherlands Cancer Institute	0	1	0	1	0	0	0	1
Clinical Genomics Laboratory, Washington University in St. Louis	0	21	0	1	0	0	0	1
Clinical Genomics, Uppaluri K&H Personalized Medicine Clinic	0	0	0	1	0	0	0	1
Clinical Immunology, Karolinska University Hospital	0	0	0	1	0	0	0	1
Concord Molecular Medicine Laboratory, Concord Repatriation General Hospital	0	0	0	1	0	0	0	1
DECIPHERD-UDD, Universidad del Desarrollo	0	0	0	1	0	0	0	1
Dan Cohn Lab, University Of California Los Angeles	0	0	0	1	0	0	0	1
Department of Clinical Genetics, Copenhagen University Hospital, Rigshospitalet	0	7	1	0	0	0	0	1
Department of Genetics and Endocrinology, Guangzhou Women and Children’s Medical Center	0	0	0	1	0	0	0	1
Department of Genetics, Sultan Qaboos University Hospital	0	6	0	0	0	0	1	1
Department of Medical Genetics, Oslo University Hospital	0	4	0	1	0	0	0	1
Department of Nephrology, Rheumatology and Immunology, Shanghai Children's Hospital	0	0	0	0	0	0	1	1
Department of Paediatrics and Adolescent Medicine, The University of Hong Kong	0	0	0	0	0	0	1	1
Department of Pediatrics, Union Hospital, Tongji Medical College, Huazhong University of Science and Technology	0	0	0	0	0	0	1	1
Department of Traditional Chinese Medicine, Fujian Provincial Hospital	0	1	0	1	0	0	0	1
Division Of Personalized Genomic Medicine, Columbia University Irving Medical Center	0	1	0	1	0	0	0	1
Division of Genetic & Genomic Pathology, Hong Kong Children's Hospital	0	2	0	1	0	0	0	1
Département de Neurologie, Hospices Civils de Lyon	0	0	0	1	0	0	0	1
EVOGEN	0	0	0	1	0	0	0	1
Eurofins-Biomnis	0	0	0	0	0	0	1	1
European Hospital Georges Pompidou Genetics Department, Assistance Publique - Hôpitaux de Paris AP-HP	0	3	0	1	0	0	0	1
Foundation for Research in Genetics and Endocrinology, FRIGE's Institute of Human Genetics	0	5	0	0	0	0	1	1
Genesis Genomics	0	6	0	1	0	0	0	1
Genetic Foundation of Khorasan Razavi (GFKR)	0	0	0	1	0	0	0	1
Genetics Laboratory, UDIAT-Centre Diagnòstic, Hospital Universitari Parc Tauli	0	9	0	0	0	0	1	1
Genomics and Molecular Medicine Service, East Genomic Laboratory Hub, NHS Genomic Medicine Service	0	2	0	1	0	0	0	1
Giacomini Lab, University of California, San Francisco	0	0	0	0	0	0	1	1
Groupe Hospitalier Pitie Salpetriere, Uf Genomique Du Developpement, Assistance Publique Hopitaux de Paris Sorbonne Université	0	1	0	1	0	0	0	1
Houlden Lab, UCL Institute of Neurology	0	0	0	0	0	0	1	1
ISTH-SSC Genomics in Thrombosis and Hemostasis, KU Leuven, Center for Molecular and Vascular Biology	0	3	0	1	0	0	0	1
Immunogenetics and Transplant Biology Service, University Hospital "Città della Salute e della Scienza di Torino"	0	2	0	1	0	0	0	1
Institute for Medical Genetics and Human Genetics, Charité - Universitätsmedizin Berlin	0	3	0	0	0	0	1	1
Institute of Human Genetics Greifswald, Research Division, University Medicine Greifswald	0	1	0	1	0	0	0	1
Institute of Human Genetics, Clinical Exome/Genome Diagnostics Group, University Hospital Bonn	0	9	0	1	0	0	0	1
Institute of Human Genetics, FAU Erlangen, Friedrich-Alexander-Universität Erlangen-Nürnberg	0	6	0	1	0	0	0	1
Institute of Human Genetics, Heidelberg University	0	8	0	1	0	0	0	1
Institute of Medical Genetics, University of Zurich	0	1	0	1	0	0	0	1
Institute of Tissue Medicine and Pathology, University of Bern	0	0	0	1	0	0	0	1
Juha Muilu Group; Institute for Molecular Medicine Finland (FIMM)	0	0	0	1	0	0	0	1
KCCC/NGS Laboratory, Kuwait Cancer Control Center	0	4	0	0	0	0	1	1
Kariminejad - Najmabadi Pathology & Genetics Center	0	5	0	1	0	0	0	1
Kasturba Medical College, Manipal, Kasturba Medical College, Manipal, Manipal Academy of Higher Education, Manipal, India	0	8	0	1	0	0	0	1
Laboratoire Génétique Moléculaire, CHRU TOURS	0	2	0	1	0	0	0	1
Laboratoire de Biologie et Génétique du Cancer, Centre François Baclesse	0	0	0	1	0	0	0	1
Laboratorio de Biologia Molecular/Medicina Genomica - IFF/Fiocruz, Instituto Fernandes Figueira, Fundacao Oswaldo Cruz	0	1	0	1	0	0	0	1
Laboratory Cellgenetics, GMDL Cellgenetics	0	0	0	1	0	0	0	1
Laboratory of Diagnosis and Therapy of Lysosomal Disorders, University of Padova	0	1	0	1	0	0	0	1
Laboratory of Immunopathology and Genetics, Medical Laboratory of Pediatric Oncology and Hematology, Central Clinical Hospital of the Medical University of Lodz	0	0	0	1	0	0	0	1
Laboratory of Inherited Metabolic Diseases, Research centre for medical genetics	0	1	0	1	0	0	0	1
Laboratory of Medical Genetics (UMR_S 1112), INSERM/Strasbourg University	0	0	0	0	0	0	1	1
Laboratory of Molecular Genetics (Pr. Bezieau's lab), CHU de Nantes	0	4	0	0	0	0	1	1
Laboratory of Molecular Genetics, CHU Rennes	0	0	0	1	0	0	0	1
Laboratory of Molecular Genetics, National Medical Research Center for Therapy and Preventive Medicine	0	0	0	0	0	0	1	1
Laboratory of Molecular and Physiopathological Bases of Osteochondrodysplasia, Imagine Institute	0	0	0	1	0	0	0	1
Lifecell International Pvt. Ltd	0	10	0	1	0	0	0	1
Lupski Lab, Baylor-Hopkins CMG, Baylor College of Medicine	0	1	0	1	0	0	0	1
Medical Molecular Genetics, National Research Centre	0	0	0	1	0	0	0	1
Molecular Biology Laboratory, Fundació Puigvert	0	0	0	1	0	0	0	1
Molecular Genetics, Royal Melbourne Hospital	0	14	0	1	0	0	0	1
NHS Central & South Genomic Laboratory Hub	0	15	0	1	0	0	0	1
National Institute of Allergy and Infectious Diseases - Centralized Sequencing Program, National Institutes of Health	0	2	0	1	0	0	0	1
Neurology Department, Shenzhen Children's Hospital	0	0	0	1	0	0	0	1
North West Genomic Laboratory Hub, Manchester University NHS Foundation Trust	0	10	0	1	0	0	0	1
Northcott Neuroscience Laboratory, ANZAC Research Institute	0	0	0	0	0	0	1	1
Ocular Genomics Institute, Massachusetts Eye and Ear	0	0	0	1	0	0	0	1
Pars Genome Lab	0	0	0	0	0	0	1	1
Phosphorus, Inc.	0	0	0	1	0	0	0	1
Precision Medicine Center, Zhengzhou University	0	0	0	1	0	0	0	1
Prenatal Diagnostic Center, Guangzhou Women and Children's Medical Center	0	0	0	1	0	0	0	1
Rare Kidney Stone Consortium and the Mayo Clinic Hyperoxaluria Center, Mayo Clinic	0	1	0	0	0	0	1	1
RettBASE	0	6	0	0	0	0	1	1
Seattle Children's Hospital Molecular Genetics Laboratory, Seattle Children's Hospital	0	4	0	1	0	0	0	1
Sema4, Sema4	0	5	0	0	0	0	1	1
Service de Génétique Moléculaire, Hôpital Robert Debré	0	4	0	1	0	0	0	1
Service de Génétique Médicale, Centre Hospitalier Universitaire de Nice-Université Côte d'Azur	0	0	0	1	0	0	0	1
Sharing Clinical Reports Project (SCRP)	0	8	0	1	0	0	0	1
SingHealth Duke-NUS Institute of Precision Medicine	0	0	0	0	0	0	1	1
Soonchunhyang University Bucheon Hospital, Soonchunhyang University Medical Center	0	0	0	1	0	0	0	1
Stanford Starfish Project, Stanford University	0	0	0	1	0	0	0	1
U4M - Lille University & CHRU Lille, Université de Lille - CHRU de Lille	0	6	0	1	0	0	0	1
Unidad de Genética Molecular HGU Elche, Hospital General Universitario de Elche	0	0	0	0	0	0	1	1
University of Washington Department of Laboratory Medicine, University of Washington	0	4	0	1	0	0	0	1
Versiti Diagnostic Laboratories, Versiti, Inc	0	0	0	1	0	0	0	1
Wessex Regional Genetics Laboratory, Salisbury District Hospital	0	1	0	1	0	0	0	1
Wong Mito Lab, Molecular and Human Genetics, Baylor College of Medicine	0	2	0	1	0	0	0	1
Zotz-Klimas Genetics Lab, MVZ Zotz Klimas	0	16	0	1	0	0	0	1
deCODE genetics, Amgen	0	0	0	1	0	0	0	1

All variants with conflicting interpretations #

HGVS	dbSNP	gnomAD frequency
NM_004134.7(HSPA9):c.1933C>T (p.Leu645=)	rs10117	0.51956
NM_000372.5(TYR):c.575C>A (p.Ser192Tyr)	rs1042602	0.24046
NM_000372.5(TYR):c.1205G>A (p.Arg402Gln)	rs1126809	0.17677
NM_000041.4(APOE):c.388T>C (p.Cys130Arg)	rs429358	0.16059
NM_000410.4(HFE):c.187C>G (p.His63Asp)	rs1799945	0.10170
NM_000402.4(G6PD):c.466A>G (p.Asn156Asp)	rs1050829	0.08672
NM_004985.5(KRAS):c.451-9G>A	rs12313763	0.07930
NM_000410.4(HFE):c.845G>A (p.Cys282Tyr)	rs1800562	0.03738
NM_001243133.2(NLRP3):c.2107C>A (p.Gln703Lys)	rs35829419	0.03262
NM_001370658.1(BTD):c.1270G>C (p.Asp424His)	rs13078881	0.03225
NM_001127701.1(SERPINA1):c.863A>T (p.Glu288Val)	rs17580	0.02788
NM_002834.5(PTPN11):c.255C>T (p.His85=)	rs61736914	0.02271
NM_000130.4(F5):c.1601G>A (p.Arg534Gln)	rs6025	0.01762
NM_000492.4(CFTR):c.1584G>A (p.Glu528=)	rs1800095	0.01670
NM_025216.3(WNT10A):c.682T>A (p.Phe228Ile)	rs121908120	0.01412
NM_001127701.1(SERPINA1):c.1096G>A (p.Glu366Lys)	rs28929474	0.01282
NM_002755.4(MAP2K1):c.711G>A (p.Gly237=)	rs17586159	0.01205
NM_004333.6(BRAF):c.-19C>T	rs71645935	0.01115
NM_002834.5(PTPN11):c.525+12G>C	rs41304351	0.01021
NM_004004.6(GJB2):c.101T>C (p.Met34Thr)	rs35887622	0.00944
NM_005633.4(SOS1):c.1964C>T (p.Pro655Leu)	rs56219475	0.00712
NM_000350.3(ABCA4):c.6320G>A (p.Arg2107His)	rs62642564	0.00654
NM_005633.4(SOS1):c.1074+5G>C	rs145155424	0.00637
NM_000157.4(GBA1):c.1223C>T (p.Thr408Met)	rs75548401	0.00627
NM_000492.4(CFTR):c.2002C>T (p.Arg668Cys)	rs1800100	0.00625
NM_001008216.2(GALE):c.770A>G (p.Lys257Arg)	rs28940884	0.00568
NM_000492.4(CFTR):c.1727G>C (p.Gly576Ala)	rs1800098	0.00519
NM_012452.3(TNFRSF13B):c.542C>A (p.Ala181Glu)	rs72553883	0.00518
NM_016233.2(PADI3):c.335T>A (p.Leu112His)	rs142129409	0.00490
NM_015465.5(GEMIN5):c.3046C>T (p.Arg1016Cys)	rs61749643	0.00455
NM_000350.3(ABCA4):c.2588G>C (p.Gly863Ala)	rs76157638	0.00445
NM_000518.4(HBB):c.19G>A (p.Glu7Lys)	rs33930165	0.00414
NM_004004.6(GJB2):c.109G>A (p.Val37Ile)	rs72474224	0.00393
NM_012452.3(TNFRSF13B):c.310T>C (p.Cys104Arg)	rs34557412	0.00391
NM_000552.5(VWF):c.2561G>A (p.Arg854Gln)	rs41276738	0.00378
NM_000372.5(TYR):c.1217C>T (p.Pro406Leu)	rs104894313	0.00375
NM_004333.6(BRAF):c.1383A>G (p.Gln461=)	rs56216404	0.00373
NM_003119.4(SPG7):c.1529C>T (p.Ala510Val)	rs61755320	0.00364
NM_000275.3(OCA2):c.1327G>A (p.Val443Ile)	rs121918166	0.00350
NM_000016.6(ACADM):c.985A>G (p.Lys329Glu)	rs77931234	0.00347
NM_003060.4(SLC22A5):c.1463G>A (p.Arg488His)	rs28383481	0.00347
NM_025152.3(NUBPL):c.815-27T>C	rs118161496	0.00343
NM_001329943.3(KIAA0586):c.392del (p.Arg131fs)	rs534542684	0.00342
NM_016038.4(SBDS):c.258+2T>C	rs113993993	0.00337
NM_000313.4(PROS1):c.1528G>A (p.Val510Met)	rs138925964	0.00331
NM_000035.4(ALDOB):c.448G>C (p.Ala150Pro)	rs1800546	0.00319
NM_001089.3(ABCA3):c.875A>T (p.Glu292Val)	rs149989682	0.00293
NM_001243279.3(ACSF3):c.1672C>T (p.Arg558Trp)	rs141090143	0.00273
NM_000781.3(CYP11A1):c.940G>A (p.Glu314Lys)	rs6161	0.00262
NM_201631.4(TGM5):c.337G>T (p.Gly113Cys)	rs112292549	0.00252
NM_000091.5(COL4A3):c.4421T>C (p.Leu1474Pro)	rs200302125	0.00245
NM_002016.2(FLG):c.2476C>T (p.Arg826Ter)	rs115746363	0.00243
NM_005633.4(SOS1):c.1230G>A (p.Gln410=)	rs141390073	0.00238
NM_000552.5(VWF):c.4315G>A (p.Val1439Met)	rs150077670	0.00222
NM_000262.3(NAGA):c.973G>A (p.Glu325Lys)	rs121434529	0.00219
NM_198514.4(NHLRC2):c.1823C>T (p.Ala608Val)	rs150975627	0.00217
NM_020458.4(TTC7A):c.1817A>G (p.Lys606Arg)	rs139010200	0.00210
NM_020458.4(TTC7A):c.2014T>C (p.Ser672Pro)	rs149602485	0.00210
NM_198514.4(NHLRC2):c.1751T>C (p.Leu584Pro)	rs144606661	0.00203
NM_000157.4(GBA1):c.1226A>G (p.Asn409Ser)	rs76763715	0.00191
NM_001171.6(ABCC6):c.742C>T (p.Leu248Phe)	rs72653756	0.00191
NM_000017.4(ACADS):c.529T>C (p.Trp177Arg)	rs57443665	0.00186
NM_000155.4(GALT):c.563A>G (p.Gln188Arg)	rs75391579	0.00184
NM_003356.4(UCP3):c.427C>T (p.Arg143Ter)	rs104894319	0.00180
NM_001041.4(SI):c.1111G>A (p.Val371Met)	rs138434001	0.00165
NM_024577.4(SH3TC2):c.1862G>A (p.Arg621His)	rs143032801	0.00161
NM_002693.3(POLG):c.1760C>T (p.Pro587Leu)	rs113994096	0.00160
NM_002693.3(POLG):c.752C>T (p.Thr251Ile)	rs113994094	0.00151
NM_001041.4(SI):c.3218G>A (p.Gly1073Asp)	rs121912616	0.00150
NM_138694.4(PKHD1):c.7307C>T (p.Thr2436Ile)	rs147851214	0.00145
NM_002016.2(FLG):c.9740C>A (p.Ser3247Ter)	rs150597413	0.00144
NM_001346249.2(RALGAPA1):c.1819A>G (p.Lys607Glu)	rs144614582	0.00143
NM_024570.4(RNASEH2B):c.529G>A (p.Ala177Thr)	rs75184679	0.00141
NM_001379500.1(COL18A1):c.2849G>A (p.Arg950His)	rs202106628	0.00140
NM_206933.4(USH2A):c.2276G>T (p.Cys759Phe)	rs80338902	0.00137
NM_006030.4(CACNA2D2):c.3402A>C (p.Gln1134His)	rs150284749	0.00128
NM_020632.3(ATP6V0A4):c.1048A>G (p.Met350Val)	rs76977934	0.00126
NM_016219.5(MAN1B1):c.707C>T (p.Pro236Leu)	rs147577332	0.00118
NM_000038.6(APC):c.3920T>A (p.Ile1307Lys)	rs1801155	0.00116
NM_000048.4(ASL):c.35G>A (p.Arg12Gln)	rs145138923	0.00116
NM_002491.3(NDUFB3):c.64T>C (p.Trp22Arg)	rs142609245	0.00116
NM_001008216.2(GALE):c.956G>A (p.Gly319Glu)	rs28940885	0.00115
NM_014845.6(FIG4):c.122T>C (p.Ile41Thr)	rs121908287	0.00115
NM_004333.6(BRAF):c.1433-19A>G	rs369635503	0.00112
NM_002524.5(NRAS):c.225C>T (p.Gly75=)	rs142739534	0.00109
NM_004947.5(DOCK3):c.3801G>A (p.Leu1267=)	rs148159031	0.00109
NM_000527.5(LDLR):c.694+25C>T	rs199540175	0.00102
NM_003119.4(SPG7):c.1045G>A (p.Gly349Ser)	rs141659620	0.00102
NM_000053.4(ATP7B):c.2605G>A (p.Gly869Arg)	rs191312027	0.00101
NM_001367624.2(ZNF469):c.4479G>A (p.Pro1493=)	rs373162171	0.00101
NM_001160148.2(DDHD1):c.156C>T (p.Gly52=)	rs367621941	0.00096
NM_000155.4(GALT):c.404C>T (p.Ser135Leu)	rs111033690	0.00094
NM_194248.3(OTOF):c.5394C>T (p.Asp1798=)	rs111033366	0.00091
NM_001329943.3(KIAA0586):c.3663T>G (p.Ser1221=)	rs201202020	0.00088
NM_139027.6(ADAMTS13):c.3178C>T (p.Arg1060Trp)	rs142572218	0.00087
NM_000203.5(IDUA):c.1205G>A (p.Trp402Ter)	rs121965019	0.00086
NM_025216.3(WNT10A):c.321C>A (p.Cys107Ter)	rs121908119	0.00084
NM_003754.3(EIF3F):c.694T>G (p.Phe232Val)	rs141976414	0.00080
NM_032551.5(KISS1R):c.1157G>C (p.Arg386Pro)	rs121908499	0.00080
NM_002972.4(SBF1):c.3579C>T (p.Pro1193=)	rs374190021	0.00079
NM_000782.5(CYP24A1):c.1186C>T (p.Arg396Trp)	rs114368325	0.00078
NM_006005.3(WFS1):c.1597C>T (p.Pro533Ser)	rs146132083	0.00076
NM_000083.3(CLCN1):c.501C>G (p.Phe167Leu)	rs149729531	0.00075
NM_000070.3(CAPN3):c.2257G>A (p.Asp753Asn)	rs146923842	0.00073
NM_001127178.3(PIGG):c.1515G>A (p.Trp505Ter)	rs150259543	0.00072
NM_004990.4(MARS1):c.2671C>T (p.Pro891Ser)	rs35843015	0.00070
NM_023936.2(MRPS34):c.94C>T (p.Gln32Ter)	rs763672163	0.00070
NM_001360.3(DHCR7):c.452G>A (p.Trp151Ter)	rs11555217	0.00068
NM_002693.3(POLG):c.1399G>A (p.Ala467Thr)	rs113994095	0.00068
NM_031885.5(BBS2):c.1523A>C (p.Gln508Pro)	rs115328064	0.00068
NM_000049.4(ASPA):c.509T>C (p.Ile170Thr)	rs144321760	0.00067
NM_001363118.2(SLC52A2):c.1122C>T (p.Leu374=)	rs144290224	0.00067
NM_198076.6(COX20):c.157+3G>C	rs367956888	0.00066
NM_000441.2(SLC26A4):c.1003T>C (p.Phe335Leu)	rs111033212	0.00065
NM_000213.5(ITGB4):c.3112-3C>T	rs151033645	0.00062
NM_000080.4(CHRNE):c.103T>C (p.Tyr35His)	rs144169073	0.00061
NM_080473.5(GATA5):c.424T>C (p.Tyr142His)	rs111554140	0.00061
NM_022132.5(MCCC2):c.1015G>A (p.Val339Met)	rs150591260	0.00059
NM_022787.4(NMNAT1):c.37G>A (p.Ala13Thr)	rs138613460	0.00057
NM_020320.5(RARS2):c.442A>G (p.Thr148Ala)	rs143389605	0.00055
NM_001101376.3(CFAP144):c.298A>G (p.Ile100Val)	rs201490932	0.00054
NM_024079.5(ALG8):c.478+1G>A	rs139832787	0.00052
NM_017837.4(PIGV):c.872A>G (p.Asn291Ser)	rs147396061	0.00051
NM_000372.5(TYR):c.1118C>A (p.Thr373Lys)	rs61754388	0.00050
NM_020738.4(KIDINS220):c.3072T>C (p.Asp1024=)	rs372134421	0.00050
NM_001163809.2(WDR81):c.5103C>T (p.Phe1701=)	rs150462855	0.00048
NM_002834.5(PTPN11):c.1658C>T (p.Thr553Met)	rs148176616	0.00048
NM_016042.4(EXOSC3):c.395A>C (p.Asp132Ala)	rs141138948	0.00048
NM_138694.4(PKHD1):c.107C>T (p.Thr36Met)	rs137852944	0.00048
NM_000016.6(ACADM):c.199T>C (p.Tyr67His)	rs121434280	0.00047
NM_001146079.2(CLDN14):c.488C>T (p.Ala163Val)	rs143797113	0.00046
NM_003907.3(EIF2B5):c.299C>T (p.Ala100Val)	rs150531914	0.00046
NM_005633.4(SOS1):c.749T>C (p.Val250Ala)	rs139290271	0.00046
NM_144687.4(NLRP12):c.850C>T (p.Arg284Ter)	rs104895564	0.00046
NM_145199.3(LIPT1):c.875C>G (p.Ser292Ter)	rs137891647	0.00045
NM_001367624.2(ZNF469):c.8401G>C (p.Gly2801Arg)	rs555522972	0.00043
NM_003754.3(EIF3F):c.591C>T (p.Pro197=)	rs143747261	0.00043
NM_000303.3(PMM2):c.470T>C (p.Phe157Ser)	rs190521996	0.00042
NM_020320.5(RARS2):c.773G>A (p.Arg258His)	rs145297855	0.00042
NM_001126108.2(SLC12A3):c.2221G>A (p.Gly741Arg)	rs138977195	0.00041
NM_020631.6(PLEKHG5):c.719A>G (p.Asp240Gly)	rs199794578	0.00041
NM_138694.4(PKHD1):c.6992T>A (p.Ile2331Lys)	rs200179145	0.00041
NM_018972.4(GDAP1):c.556A>G (p.Ile186Val)	rs148508128	0.00040
NM_025150.5(TARS2):c.773C>T (p.Ser258Leu)	rs145039072	0.00040
NM_145064.3(STAC3):c.851G>C (p.Trp284Ser)	rs140291094	0.00039
NM_000492.4(CFTR):c.3080T>C (p.Ile1027Thr)	rs1800112	0.00038
NM_005502.4(ABCA1):c.5398A>C (p.Asn1800His)	rs146292819	0.00038
NM_019616.4(F7):c.995C>T (p.Ala332Val)	rs36209567	0.00038
NM_000441.2(SLC26A4):c.626G>T (p.Gly209Val)	rs111033303	0.00037
NM_001195263.2(PDZD7):c.1411T>C (p.Phe471Leu)	rs141181035	0.00037
NM_017807.4(OSGEP):c.328T>C (p.Cys110Arg)	rs140076803	0.00036
NM_001370658.1(BTD):c.451G>A (p.Ala151Thr)	rs13073139	0.00035
NM_000492.4(CFTR):c.1327G>T (p.Asp443Tyr)	rs147422190	0.00034
NM_007194.4(CHEK2):c.1427C>T (p.Thr476Met)	rs142763740	0.00032
NM_014363.6(SACS):c.1562G>C (p.Ser521Thr)	rs190617851	0.00032
NM_012452.3(TNFRSF13B):c.204dup (p.Leu69fs)	rs72553875	0.00031
NM_018297.4(NGLY1):c.1201A>T (p.Arg401Ter)	rs201337954	0.00031
NM_000277.3(PAH):c.194T>C (p.Ile65Thr)	rs75193786	0.00030
NM_001379500.1(COL18A1):c.3523_3524del (p.Leu1175fs)	rs398122391	0.00029
NM_001383.6(DPH1):c.359T>C (p.Leu120Pro)	rs200530055	0.00029
NM_000384.3(APOB):c.10580G>A (p.Arg3527Gln)	rs5742904	0.00028
NM_001170535.3(ATAD3A):c.1227T>C (p.Phe409=)	rs575132198	0.00027
NM_001930.4(DHPS):c.1014+1G>A	rs142633494	0.00027
NM_025150.5(TARS2):c.1354C>T (p.Arg452Trp)	rs146503501	0.00027
NM_002303.6(LEPR):c.1030G>A (p.Val344Ile)	rs145668112	0.00026
NM_144991.3(TSPEAR):c.589C>T (p.Arg197Ter)	rs139455627	0.00026
NM_000341.4(SLC3A1):c.592del (p.Ala198fs)	rs778000327	0.00025
NM_000441.2(SLC26A4):c.-3-2A>G	rs397516411	0.00025
NM_001258392.3(CLPB):c.1132A>G (p.Arg378Gly)	rs144078282	0.00025
NM_016146.6(TRAPPC4):c.454+3A>G	rs375776811	0.00025
NM_000124.4(ERCC6):c.1772C>T (p.Pro591Leu)	rs115876786	0.00024
NM_182760.4(SUMF1):c.836C>T (p.Ala279Val)	rs137852849	0.00024
NM_001001331.4(ATP2B2):c.1427A>G (p.Lys476Arg)	rs143304473	0.00023
NM_001918.5(DBT):c.901C>T (p.Arg301Cys)	rs185492864	0.00023
NM_001243279.3(ACSF3):c.728C>T (p.Pro243Leu)	rs140986055	0.00022
NM_000275.3(OCA2):c.2339G>A (p.Gly780Asp)	rs141949212	0.00021
NM_002016.2(FLG):c.94G>T (p.Glu32Ter)	rs114733570	0.00021
NM_005422.4(TECTA):c.2945T>C (p.Leu982Pro)	rs141616288	0.00021
NM_000369.5(TSHR):c.1637G>A (p.Trp546Ter)	rs121908866	0.00019
NM_000372.5(TYR):c.823G>T (p.Val275Phe)	rs104894314	0.00019
NM_015665.6(AAAS):c.996+12C>T	rs200312077	0.00019
NM_000488.4(SERPINC1):c.236G>A (p.Arg79His)	rs121909552	0.00018
NM_003060.4(SLC22A5):c.695C>T (p.Thr232Met)	rs114269482	0.00018
NM_014738.6(TMEM94):c.1672C>T (p.Leu558=)	rs146061217	0.00018
NM_130837.3(OPA1):c.1700T>C (p.Ile567Thr)	rs148834015	0.00018
NM_198129.4(LAMA3):c.1077C>T (p.His359=)	rs371273390	0.00018
NM_000338.3(SLC12A1):c.200A>G (p.Gln67Arg)	rs139471047	0.00017
NM_000414.4(HSD17B4):c.46G>A (p.Gly16Ser)	rs137853096	0.00017
NM_000500.9(CYP21A2):c.342C>T (p.Ser114=)	rs193922546	0.00017
NM_001303.4(COX10):c.624+4A>G	rs199668725	0.00017
NM_033028.5(BBS4):c.1548_1549del (p.Ile516fs)	rs398124432	0.00017
NM_172250.3(MMAA):c.433C>T (p.Arg145Ter)	rs104893851	0.00017
NM_000348.4(SRD5A2):c.680G>A (p.Arg227Gln)	rs9332964	0.00016
NM_000492.4(CFTR):c.1853T>C (p.Ile618Thr)	rs139468767	0.00016
NM_001927.4(DES):c.643G>A (p.Val215Met)	rs144908941	0.00016
NM_006767.4(LZTR1):c.264-13G>A	rs587777176	0.00016
NM_032043.3(BRIP1):c.2392C>T (p.Arg798Ter)	rs137852986	0.00016
NM_001348716.2(KDM6B):c.3194C>T (p.Pro1065Leu)	rs148894687	0.00015
NM_001458.5(FLNC):c.970-4A>G	rs532143625	0.00015
NM_000157.4(GBA1):c.222_224del (p.Thr75del)	rs761621516	0.00014
NM_001126108.2(SLC12A3):c.1928C>T (p.Pro643Leu)	rs140012781	0.00014
NM_001127178.3(PIGG):c.2552A>C (p.Gln851Pro)	rs150802299	0.00014
NM_000071.3(CBS):c.146C>T (p.Pro49Leu)	rs148865119	0.00013
NM_001267550.2(TTN):c.16091G>A (p.Arg5364His)	rs200941841	0.00013
NM_001851.6(COL9A1):c.344C>T (p.Thr115Met)	rs200018557	0.00013
NM_004260.4(RECQL4):c.1048_1049del (p.Arg350fs)	rs746636748	0.00013
NM_005633.4(SOS1):c.1668A>C (p.Val556=)	rs376314461	0.00013
NM_000113.3(TOR1A):c.613T>A (p.Phe205Ile)	rs267607134	0.00012
NM_000151.4(G6PC1):c.948C>A (p.Ser316=)	rs137978566	0.00012
NM_000237.3(LPL):c.286G>C (p.Val96Leu)	rs373088068	0.00012
NM_000500.9(CYP21A2):c.327C>G (p.Ser109=)	rs193922545	0.00012
NM_000642.3(AGL):c.256C>T (p.Gln86Ter)	rs193186112	0.00012
NM_152713.5(STT3A):c.615+6T>C	rs767197223	0.00012
NM_001352754.2(ARMC9):c.1027C>T (p.Arg343Cys)	rs759799287	0.00011
NM_001367624.2(ZNF469):c.3060G>A (p.Glu1020=)	rs1055705235	0.00011
NM_003359.4(UGDH):c.193C>T (p.Arg65Ter)	rs200059198	0.00011
NM_006567.5(FARS2):c.792del (p.Asp265fs)	rs761097220	0.00011
NM_014780.5(CUL7):c.3041T>G (p.Leu1014Arg)	rs61752334	0.00011
NM_022132.5(MCCC2):c.1065A>T (p.Leu355Phe)	rs757052602	0.00011
NM_000092.5(COL4A4):c.5045G>A (p.Arg1682Gln)	rs368404711	0.00010
NM_000277.3(PAH):c.842C>T (p.Pro281Leu)	rs5030851	0.00010
NM_001098.3(ACO2):c.2135C>T (p.Pro712Leu)	rs375761361	0.00010
NM_002016.2(FLG):c.7837A>T (p.Arg2613Ter)	rs567795279	0.00010
NM_152564.5(VPS13B):c.6657+1G>A	rs180177366	0.00010
NM_201384.3(PLEC):c.11015G>C (p.Ser3672Thr)	rs782767733	0.00010
NM_206933.4(USH2A):c.4445C>T (p.Thr1482Ile)	rs200790812	0.00010
NM_000018.4(ACADVL):c.1273G>A (p.Ala425Thr)	rs138834083	0.00009
NM_000256.3(MYBPC3):c.1504C>T (p.Arg502Trp)	rs375882485	0.00009
NM_000257.4(MYH7):c.2606G>A (p.Arg869His)	rs202141173	0.00009
NM_000551.4(VHL):c.598C>T (p.Arg200Trp)	rs28940298	0.00009
NM_001360.3(DHCR7):c.278C>T (p.Thr93Met)	rs80338853	0.00009
NM_001498.4(GCLC):c.57C>G (p.Ala19=)	rs368320861	0.00009
NM_005609.4(PYGM):c.425-26A>G	rs764313717	0.00009
NM_007194.4(CHEK2):c.349A>G (p.Arg117Gly)	rs28909982	0.00009
NM_016111.4(TELO2):c.2312T>C (p.Leu771Ser)	rs201230315	0.00009
NM_005629.4(SLC6A8):c.1810T>A (p.Leu604Met)	rs1301772452	0.00008
NM_018116.4(MSTO1):c.836G>A (p.Arg279His)	rs563943670	0.00008
NM_033109.5(PNPT1):c.1592C>G (p.Thr531Arg)	rs374698153	0.00008
NM_000384.3(APOB):c.3490A>G (p.Arg1164Gly)	rs149660265	0.00007
NM_000431.4(MVK):c.346T>C (p.Tyr116His)	rs104895382	0.00007
NM_000527.5(LDLR):c.1201C>G (p.Leu401Val)	rs146200173	0.00007
NM_000543.5(SMPD1):c.1133G>A (p.Arg378His)	rs559088058	0.00007
NM_001377.3(DYNC2H1):c.10322T>C (p.Leu3441Pro)	rs771487311	0.00007
NM_001378778.1(MPDZ):c.394G>A (p.Gly132Ser)	rs201101621	0.00007
NM_001761.3(CCNF):c.1861A>G (p.Ser621Gly)	rs778264897	0.00007
NM_001983.4(ERCC1):c.466C>T (p.Arg156Trp)	rs757369063	0.00007
NM_002834.5(PTPN11):c.1678C>T (p.Leu560Phe)	rs397516797	0.00007
NM_015346.4(ZFYVE26):c.6789C>T (p.Asp2263=)	rs372463199	0.00007
NM_024105.4(ALG12):c.295+1G>A	rs376314741	0.00007
NM_033026.6(PCLO):c.1110G>T (p.Lys370Asn)	rs746147472	0.00007
NM_000183.3(HADHB):c.397A>G (p.Thr133Ala)	rs371159065	0.00006
NM_000256.3(MYBPC3):c.1624G>C (p.Glu542Gln)	rs121909374	0.00006
NM_000260.4(MYO7A):c.99_100del (p.Gly34fs)	rs782312060	0.00006
NM_000528.4(MAN2B1):c.2426T>C (p.Leu809Pro)	rs80338681	0.00006
NM_004134.7(HSPA9):c.882_883del (p.Gly295_Val296insTer)	rs772570880	0.00006
NM_004606.5(TAF1):c.3227+8G>A	rs373273976	0.00006
NM_013296.5(GPSM2):c.1661C>A (p.Ser554Ter)	rs145191476	0.00006
NM_015166.4(MLC1):c.274C>T (p.Pro92Ser)	rs121908345	0.00006
NM_017721.5(CC2D1A):c.498C>T (p.Tyr166=)	rs373022042	0.00006
NM_020166.5(MCCC1):c.974T>G (p.Met325Arg)	rs119103212	0.00006
NM_020320.5(RARS2):c.35A>G (p.Gln12Arg)	rs147391618	0.00006
NM_025114.4(CEP290):c.4966G>T (p.Glu1656Ter)	rs62638179	0.00006
NM_144991.3(TSPEAR):c.1423G>A (p.Gly475Ser)	rs782056388	0.00006
NM_152564.5(VPS13B):c.6727G>T (p.Glu2243Ter)	rs146960401	0.00006
NM_000031.6(ALAD):c.397G>A (p.Gly133Arg)	rs121912980	0.00005
NM_000256.3(MYBPC3):c.1790G>A (p.Arg597Gln)	rs727503195	0.00005
NM_000303.3(PMM2):c.691G>A (p.Val231Met)	rs80338707	0.00005
NM_000527.5(LDLR):c.910G>A (p.Asp304Asn)	rs121908030	0.00005
NM_000540.3(RYR1):c.7300G>A (p.Gly2434Arg)	rs121918593	0.00005
NM_001135146.2(SLC39A8):c.610G>T (p.Gly204Cys)	rs779241085	0.00005
NM_001267550.2(TTN):c.86821+2T>A	rs397517735	0.00005
NM_001360.3(DHCR7):c.976G>T (p.Val326Leu)	rs80338859	0.00005
NM_002016.2(FLG):c.7487del (p.Thr2496fs)	rs774362740	0.00005
NM_004181.5(UCHL1):c.34-8C>G	rs367604061	0.00005
NM_004279.3(PMPCB):c.601G>C (p.Ala201Pro)	rs146343535	0.00005
NM_017807.4(OSGEP):c.838C>T (p.Arg280Cys)	rs374322839	0.00005
NM_183075.3(CYP2U1):c.1376C>T (p.Pro459Leu)	rs747965749	0.00005
NM_000016.6(ACADM):c.1189T>A (p.Tyr397Asn)	rs759158371	0.00004
NM_000238.4(KCNH2):c.2717C>T (p.Ser906Leu)	rs199473435	0.00004
NM_001136035.4(TRMT1):c.310+5G>C	rs374273151	0.00004
NM_001195518.2(MICU1):c.161+1G>A	rs375502236	0.00004
NM_001377.3(DYNC2H1):c.6480T>A (p.Asn2160Lys)	rs775426647	0.00004
NM_001605.3(AARS1):c.2251A>G (p.Arg751Gly)	rs143370729	0.00004
NM_003922.4(HERC1):c.12357C>T (p.Ser4119=)	rs376591272	0.00004
NM_004006.3(DMD):c.10247G>A (p.Trp3416Ter)	rs201217593	0.00004
NM_004937.3(CTNS):c.473T>C (p.Leu158Pro)	rs113994206	0.00004
NM_012144.4(DNAI1):c.1212T>G (p.Tyr404Ter)	rs926347298	0.00004
NM_016138.5(COQ7):c.319C>T (p.Arg107Trp)	rs769570290	0.00004
NM_025216.3(WNT10A):c.391G>A (p.Ala131Thr)	rs372993798	0.00004
NM_032043.3(BRIP1):c.751C>T (p.Arg251Cys)	rs752309409	0.00004
NM_058216.3(RAD51C):c.577C>T (p.Arg193Ter)	rs200293302	0.00004
NM_000016.6(ACADM):c.388-14A>G	rs372525651	0.00003
NM_000018.4(ACADVL):c.1096C>T (p.Arg366Cys)	rs771874163	0.00003
NM_000083.3(CLCN1):c.854G>A (p.Gly285Glu)	rs150885084	0.00003
NM_000143.4(FH):c.521C>G (p.Pro174Arg)	rs199822819	0.00003
NM_000152.5(GAA):c.2608C>T (p.Arg870Ter)	rs780321415	0.00003
NM_000158.4(GBE1):c.760A>G (p.Thr254Ala)	rs770427750	0.00003
NM_000171.4(GLRA1):c.1259G>A (p.Arg420His)	rs281864919	0.00003
NM_000335.5(SCN5A):c.393-1C>T	rs759235726	0.00003
NM_000492.4(CFTR):c.200C>T (p.Pro67Leu)	rs368505753	0.00003
NM_000527.5(LDLR):c.1897C>T (p.Arg633Cys)	rs746118995	0.00003
NM_000540.3(RYR1):c.7099G>A (p.Ala2367Thr)	rs146306934	0.00003
NM_000660.7(TGFB1):c.466C>T (p.Arg156Cys)	rs200482214	0.00003
NM_001037.5(SCN1B):c.363C>G (p.Cys121Trp)	rs104894718	0.00003
NM_001100.4(ACTA1):c.782A>T (p.Glu261Val)	rs121909523	0.00003
NM_001242896.3(DEPDC5):c.1909C>T (p.Arg637Ter)	rs780960812	0.00003
NM_001360.3(DHCR7):c.461C>G (p.Thr154Arg)	rs143312232	0.00003
NM_002834.5(PTPN11):c.781C>T (p.Leu261Phe)	rs397507525	0.00003
NM_002834.5(PTPN11):c.794G>A (p.Arg265Gln)	rs376607329	0.00003
NM_002878.4(RAD51D):c.620C>T (p.Ser207Leu)	rs370228071	0.00003
NM_003000.3(SDHB):c.136C>T (p.Arg46Ter)	rs74315370	0.00003
NM_003060.4(SLC22A5):c.424G>T (p.Ala142Ser)	rs151231558	0.00003
NM_004333.6(BRAF):c.240+11G>A	rs730880379	0.00003
NM_005670.4(EPM2A):c.721C>T (p.Arg241Ter)	rs104893950	0.00003
NM_005912.3(MC4R):c.896C>A (p.Pro299His)	rs52804924	0.00003
NM_006005.3(WFS1):c.2654C>T (p.Pro885Leu)	rs372855769	0.00003
NM_007059.4(KPTN):c.863G>A (p.Arg288Gln)	rs772378754	0.00003
NM_007103.4(NDUFV1):c.365C>T (p.Pro122Leu)	rs750831299	0.00003
NM_012123.4(MTO1):c.1282G>A (p.Ala428Thr)	rs143747297	0.00003
NM_012179.4(FBXO7):c.1033C>T (p.Arg345Ter)	rs151103559	0.00003
NM_014804.3(KIAA0753):c.2656C>T (p.Arg886Ter)	rs370840009	0.00003
NM_015559.3(SETBP1):c.62C>T (p.Pro21Leu)	rs758194735	0.00003
NM_016343.4(CENPF):c.7219C>T (p.Arg2407Ter)	rs376076886	0.00003
NM_024079.5(ALG8):c.535C>T (p.Arg179Ter)	rs762811727	0.00003
NM_153026.3(PRICKLE1):c.311G>A (p.Arg104Gln)	rs113994140	0.00003
NM_153704.6(TMEM67):c.1645C>T (p.Arg549Cys)	rs747025617	0.00003
NM_207122.2(EXT2):c.1945C>T (p.Arg649Ter)	rs765648513	0.00003
NM_212552.3(BOLA3):c.200T>A (p.Ile67Asn)	rs550855238	0.00003
NM_000018.4(ACADVL):c.685C>T (p.Arg229Ter)	rs786204536	0.00002
NM_000057.4(BLM):c.3439A>T (p.Lys1147Ter)	rs770311534	0.00002
NM_000090.4(COL3A1):c.1996G>A (p.Gly666Ser)	rs755528878	0.00002
NM_000169.3(GLA):c.593T>C (p.Ile198Thr)	rs727503950	0.00002
NM_000256.3(MYBPC3):c.2308G>A (p.Asp770Asn)	rs36211723	0.00002
NM_000257.4(MYH7):c.1727A>G (p.His576Arg)	rs727504238	0.00002
NM_000257.4(MYH7):c.5135G>A (p.Arg1712Gln)	rs193922390	0.00002
NM_000271.5(NPC1):c.3289G>A (p.Asp1097Asn)	rs758829443	0.00002
NM_000295.5(SERPINA1):c.701T>A (p.Val234Glu)	rs746197812	0.00002
NM_000303.3(PMM2):c.447+5G>A	rs367852554	0.00002
NM_000352.6(ABCC8):c.1501G>A (p.Glu501Lys)	rs372307320	0.00002
NM_000383.4(AIRE):c.1616C>T (p.Pro539Leu)	rs179363889	0.00002
NM_000399.5(EGR2):c.1395G>A (p.Pro465=)	rs779811073	0.00002
NM_000426.4(LAMA2):c.5562+5G>C	rs771046502	0.00002
NM_000426.4(LAMA2):c.6429+1G>T	rs1262029350	0.00002
NM_000492.4(CFTR):c.1055G>A (p.Arg352Gln)	rs121908753	0.00002
NM_000527.5(LDLR):c.1027G>A (p.Gly343Ser)	rs730882096	0.00002
NM_000631.5(NCF4):c.529-2A>T	rs199890705	0.00002
NM_001164277.2(SLC37A4):c.742C>T (p.Gln248Ter)	rs781784543	0.00002
NM_001164508.2(NEB):c.17276del (p.Gln5759fs)	rs1346554177	0.00002
NM_001367624.2(ZNF469):c.1128G>A (p.Leu376=)	rs1234817297	0.00002
NM_001379659.1(ZNF142):c.3775C>T (p.Arg1259Ter)	rs546151500	0.00002
NM_002755.4(MAP2K1):c.693+10G>A	rs377034924	0.00002
NM_002880.4(RAF1):c.1113T>C (p.Asp371=)	rs146668293	0.00002
NM_003620.4(PPM1D):c.1714C>T (p.Arg572Ter)	rs765769406	0.00002
NM_006329.4(FBLN5):c.990-3C>T	rs762189469	0.00002
NM_006346.4(PIBF1):c.1508A>G (p.Tyr503Cys)	rs144610914	0.00002
NM_024675.4(PALB2):c.3113G>A (p.Trp1038Ter)	rs180177132	0.00002
NM_054012.4(ASS1):c.836G>A (p.Arg279Gln)	rs371265106	0.00002
NM_170707.4(LMNA):c.290A>C (p.Lys97Thr)	rs1060502216	0.00002
NM_000016.6(ACADM):c.1257C>A (p.Tyr419Ter)	rs753928772	0.00001
NM_000018.4(ACADVL):c.753-2A>C	rs398123092	0.00001
NM_000048.4(ASL):c.545G>A (p.Arg182Gln)	rs751590073	0.00001
NM_000051.4(ATM):c.6095+1G>A	rs587781584	0.00001
NM_000080.4(CHRNE):c.529_551del (p.Glu177fs)	rs758687208	0.00001
NM_000083.3(CLCN1):c.1478C>A (p.Ala493Glu)	rs770900468	0.00001
NM_000089.4(COL1A2):c.298G>A (p.Gly100Ser)	rs1410254723	0.00001
NM_000092.5(COL4A4):c.1441G>A (p.Gly481Ser)	rs181528936	0.00001
NM_000126.4(ETFA):c.2T>C (p.Met1Thr)	rs727503918	0.00001
NM_000153.4(GALC):c.583-6T>A	rs398123176	0.00001
NM_000181.4(GUSB):c.738C>G (p.Tyr246Ter)	rs764866250	0.00001
NM_000255.4(MMUT):c.1846C>T (p.Arg616Cys)	rs765284825	0.00001
NM_000256.3(MYBPC3):c.1227-9C>A	rs11570079	0.00001
NM_000257.4(MYH7):c.2135G>T (p.Arg712Leu)	rs1224554825	0.00001
NM_000271.5(NPC1):c.3570_3573dup (p.Ala1192fs)	rs750323164	0.00001
NM_000277.3(PAH):c.442-5C>G	rs62514909	0.00001
NM_000282.4(PCCA):c.600+1G>A	rs879253802	0.00001
NM_000297.4(PKD2):c.1319+1G>A	rs1131692280	0.00001
NM_000334.4(SCN4A):c.4484T>C (p.Ile1495Thr)	rs1318966106	0.00001
NM_000335.5(SCN5A):c.674G>A (p.Arg225Gln)	rs199473071	0.00001
NM_000352.6(ABCC8):c.3544C>T (p.Arg1182Trp)	rs797045209	0.00001
NM_000388.4(CASR):c.2405A>G (p.Asn802Ser)	rs140022350	0.00001
NM_000527.5(LDLR):c.1135T>C (p.Cys379Arg)	rs879254803	0.00001
NM_000527.5(LDLR):c.259T>G (p.Trp87Gly)	rs121908025	0.00001
NM_000527.5(LDLR):c.898A>G (p.Arg300Gly)	rs767618089	0.00001
NM_000530.8(MPZ):c.487G>C (p.Gly163Arg)	rs281865128	0.00001
NM_000540.3(RYR1):c.14210G>A (p.Arg4737Gln)	rs193922868	0.00001
NM_000540.3(RYR1):c.14545G>A (p.Val4849Ile)	rs118192168	0.00001
NM_000540.3(RYR1):c.3381+5G>A	rs199691436	0.00001
NM_001005273.3(CHD3):c.5007_5008del (p.Asp1671fs)	rs967826828	0.00001
NM_001009944.3(PKD1):c.7271C>T (p.Thr2424Met)	rs1367567191	0.00001
NM_001009944.3(PKD1):c.8311G>A (p.Glu2771Lys)	rs1057518897	0.00001
NM_001009944.3(PKD1):c.9412G>A (p.Val3138Met)	rs1358566538	0.00001
NM_001042492.3(NF1):c.2350T>C (p.Trp784Arg)	rs199474730	0.00001
NM_001042492.3(NF1):c.3826C>G (p.Arg1276Gly)	rs199474742	0.00001
NM_001083961.2(WDR62):c.3735G>A (p.Leu1245=)	rs751353765	0.00001
NM_001101.5(ACTB):c.94C>T (p.Pro32Ser)	rs779839358	0.00001
NM_001122659.3(EDNRB):c.186G>A (p.Leu62=)	rs62637639	0.00001
NM_001142416.2(AIMP1):c.115C>T (p.Gln39Ter)	rs724159969	0.00001
NM_001164508.2(NEB):c.1493A>G (p.Asp498Gly)	rs1255744452	0.00001
NM_001164508.2(NEB):c.25141_25142del (p.Met8381fs)	rs1472403020	0.00001
NM_001164508.2(NEB):c.5763+5G>A	rs776167256	0.00001
NM_001206744.2(TPO):c.2578G>A (p.Gly860Arg)	rs556552435	0.00001
NM_001267550.2(TTN):c.38737G>T (p.Glu12913Ter)	rs767120669	0.00001
NM_001330360.2(POLA1):c.3916-16C>T	rs370848887	0.00001
NM_001370658.1(BTD):c.124G>A (p.Val42Met)	rs397507170	0.00001
NM_001371928.1(AHDC1):c.4031T>C (p.Ile1344Thr)	rs1467982801	0.00001
NM_001374828.1(ARID1B):c.283G>A (p.Gly95Ser)	rs797045273	0.00001
NM_001378457.1(DMXL2):c.3759_3760del (p.Trp1254fs)	rs1325372369	0.00001
NM_001378615.1(CC2D2A):c.1558C>T (p.Arg520Ter)	rs781252161	0.00001
NM_002340.6(LSS):c.1194+5G>A	rs748758448	0.00001
NM_002769.5(PRSS1):c.365G>A (p.Arg122His)	rs111033565	0.00001
NM_002834.5(PTPN11):c.1403C>T (p.Thr468Met)	rs121918457	0.00001
NM_002887.4(RARS1):c.175C>T (p.Arg59Ter)	rs749027104	0.00001
NM_004183.4(BEST1):c.72G>A (p.Trp24Ter)	rs281865213	0.00001
NM_004463.3(FGD1):c.245G>A (p.Ser82Asn)	rs945333070	0.00001
NM_005051.3(QARS1):c.1543C>T (p.Arg515Trp)	rs587777334	0.00001
NM_005188.4(CBL):c.1111T>C (p.Tyr371His)	rs267606706	0.00001
NM_005188.4(CBL):c.1259G>A (p.Arg420Gln)	rs267606708	0.00001
NM_005633.4(SOS1):c.3282T>G (p.Gly1094=)	rs145357714	0.00001
NM_005896.4(IDH1):c.395G>A (p.Arg132His)	rs121913500	0.00001
NM_006005.3(WFS1):c.397G>A (p.Ala133Thr)	rs372249044	0.00001
NM_006019.4(TCIRG1):c.346C>T (p.Gln116Ter)	rs1338631330	0.00001
NM_006231.4(POLE):c.4111C>T (p.Arg1371Ter)	rs151278283	0.00001
NM_006348.5(COG5):c.1381C>T (p.Arg461Ter)	rs148069173	0.00001
NM_006618.5(KDM5B):c.1321C>T (p.Arg441Ter)	rs527951173	0.00001
NM_006618.5(KDM5B):c.895C>T (p.Arg299Ter)	rs1558498928	0.00001
NM_006734.4(HIVEP2):c.6601C>T (p.Leu2201Phe)	rs1435738912	0.00001
NM_006767.4(LZTR1):c.401-2A>G	rs1222197005	0.00001
NM_006767.4(LZTR1):c.848G>A (p.Arg283Gln)	rs1223430276	0.00001
NM_006922.4(SCN3A):c.1855G>A (p.Glu619Lys)	rs577018955	0.00001
NM_007294.4(BRCA1):c.5207T>C (p.Val1736Ala)	rs45553935	0.00001
NM_012123.4(MTO1):c.791C>T (p.Pro264Leu)	rs1025884753	0.00001
NM_012144.4(DNAI1):c.1216G>A (p.Gly406Ser)	rs769177784	0.00001
NM_014363.6(SACS):c.5045G>A (p.Arg1682Lys)	rs1269546947	0.00001
NM_014712.3(SETD1A):c.2737C>T (p.Arg913Cys)	rs2056165149	0.00001
NM_017775.4(TTC19):c.1A>G (p.Met1Val)	rs749196122	0.00001
NM_018082.6(POLR3B):c.2570+5G>A	rs2037906616	0.00001
NM_018136.5(ASPM):c.9697C>T (p.Arg3233Ter)	rs199422194	0.00001
NM_018941.4(CLN8):c.610C>T (p.Arg204Cys)	rs104894060	0.00001
NM_019842.4(KCNQ5):c.89G>A (p.Gly30Glu)	rs756542782	0.00001
NM_020738.4(KIDINS220):c.3374dup (p.Tyr1125Ter)	rs1438054052	0.00001
NM_022124.6(CDH23):c.3016G>A (p.Glu1006Lys)	rs745571683	0.00001
NM_022132.5(MCCC2):c.1441G>A (p.Val481Met)	rs767575019	0.00001
NM_022552.5(DNMT3A):c.875T>C (p.Ile292Thr)	rs777306476	0.00001
NM_024422.6(DSC2):c.2125+1del	rs794728072	0.00001
NM_024675.4(PALB2):c.758dup (p.Ser254fs)	rs515726126	0.00001
NM_030665.4(RAI1):c.232T>C (p.Tyr78His)	rs2508567631	0.00001
NM_031407.7(HUWE1):c.11747C>T (p.Pro3916Leu)	rs1430366832	0.00001
NM_033550.4(TP53RK):c.727C>T (p.Arg243Cys)	rs553547069	0.00001
NM_057175.5(NAA15):c.239_240del (p.His80fs)	rs779009256	0.00001
NM_130837.3(OPA1):c.789+2T>C	rs1731099484	0.00001
NM_138694.4(PKHD1):c.2811G>A (p.Trp937Ter)	rs1344820986	0.00001
NM_152564.5(VPS13B):c.11758C>T (p.Arg3920Ter)	rs933746831	0.00001
NM_170707.4(LMNA):c.1303C>T (p.Arg435Cys)	rs150840924	0.00001
NM_174936.4(PCSK9):c.1547G>T (p.Gly516Val)	rs891322948	0.00001
NM_181486.4(TBX5):c.710G>A (p.Arg237Gln)	rs104894378	0.00001
NM_182931.3(KMT2E):c.3908C>T (p.Ser1303Leu)	rs1799182705	0.00001
NM_198904.4(GABRG2):c.1000G>A (p.Ala334Thr)	rs398123523	0.00001
NM_206926.2(SELENON):c.771-2A>G	rs1176143542	0.00001
NC_000023.11:g.70027902_70027919del	rs397516668
NM_000019.4(ACAT1):c.730+2T>C	rs398123096
NM_000020.3(ACVRL1):c.1120C>T (p.Arg374Trp)	rs28936401
NM_000020.3(ACVRL1):c.853C>T (p.Leu285Phe)	rs1085307410
NM_000033.4(ABCD1):c.839G>A (p.Arg280His)	rs781904944
NM_000051.4(ATM):c.2284_2285del (p.Leu762fs)	rs587781658
NM_000051.4(ATM):c.237del (p.Lys79fs)	rs730881303
NM_000051.4(ATM):c.4358_4359del (p.Ile1453fs)	rs1555097650
NM_000051.4(ATM):c.4804_4805del (p.Val1602fs)	rs864622290
NM_000051.4(ATM):c.6404_6405insTT (p.Leu2135_Arg2136insTer)	rs587782554
NM_000053.4(ATP7B):c.524_525del (p.Lys175fs)	rs558037268
NM_000053.4(ATP7B):c.778dup (p.Gln260fs)	rs786204570
NM_000069.3(CACNA1S):c.1191C>T (p.Ser397=)
NM_000071.3(CBS):c.429C>G (p.Ile143Met)	rs370167302
NM_000085.5(CLCNKB):c.376del (p.Glu125_Val126insTer)	rs2023146719
NM_000088.4(COL1A1):c.958-1G>A	rs72645352
NM_000091.5(COL4A3):c.1311G>T (p.Pro437=)	rs369557944
NM_000091.5(COL4A3):c.4028-15T>C	rs764478470
NM_000093.5(COL5A1):c.4465G>A (p.Gly1489Arg)	rs1838935159
NM_000112.4(SLC26A2):c.2032_2033delinsCT (p.Gly678Leu)	rs2113699627
NM_000116.5(TAFAZZIN):c.153C>G (p.Tyr51Ter)	rs104894941
NM_000124.4(ERCC6):c.1066G>T (p.Glu356Ter)	rs1837257225
NM_000133.4(F9):c.950C>T (p.Ala317Val)	rs2148367725
NM_000138.5(FBN1):c.6313+3A>G	rs1555395256
NM_000143.4(FH):c.1431_1433dup (p.Lys477dup)	rs367543046
NM_000152.5(GAA):c.2238G>C (p.Trp746Cys)	rs1800312
NM_000157.4(GBA1):c.1448T>C (p.Leu483Pro)	rs421016
NM_000165.5(GJA1):c.226C>A (p.Arg76Ser)	rs267606845
NM_000166.6(GJB1):c.283G>A (p.Val95Met)	rs104894821
NM_000166.6(GJB1):c.556G>A (p.Glu186Lys)	rs116840821
NM_000170.3(GLDC):c.2259C>G (p.His753Gln)	rs2129719894
NM_000202.8(IDS):c.1504T>G (p.Trp502Gly)	rs2089304297
NM_000218.3(KCNQ1):c.532G>A (p.Ala178Thr)	rs120074177
NM_000218.3(KCNQ1):c.775C>T (p.Arg259Cys)	rs199472719
NM_000238.4(KCNH2):c.2987A>T (p.Asn996Ile)	rs199473018
NM_000243.3(MEFV):c.1759+1G>A	rs876660996
NM_000251.3(MSH2):c.2090G>C (p.Cys697Ser)	rs63750398
NM_000256.3(MYBPC3):c.1522C>T (p.Gln508Ter)	rs730880544
NM_000271.5(NPC1):c.67del (p.Gln23fs)	rs886043131
NM_000275.3(OCA2):c.819_822delinsGGTC (p.Asn273_Trp274delinsLysVal)	rs797044784
NM_000277.3(PAH):c.842C>A (p.Pro281His)	rs5030851
NM_000314.8(PTEN):c.106G>A (p.Gly36Arg)	rs786204854
NM_000314.8(PTEN):c.212G>T (p.Cys71Phe)	rs1554897856
NM_000314.8(PTEN):c.388C>T (p.Arg130Ter)	rs121909224
NM_000314.8(PTEN):c.972_977del (p.Leu325_Asp326del)	rs1860630372
NM_000334.4(SCN4A):c.2111C>T (p.Thr704Met)	rs80338957
NM_000335.5(SCN5A):c.4242+1G>C	rs794728879
NM_000352.6(ABCC8):c.2693G>A (p.Trp898Ter)	rs1382448285
NM_000360.4(TH):c.90+7dup	rs780485650
NM_000368.5(TSC1):c.733C>T (p.Arg245Ter)	rs118203434
NM_000384.3(APOB):c.10848del (p.Gly3617fs)	rs982371659
NM_000384.3(APOB):c.13025C>T (p.Pro4342Leu)
NM_000388.4(CASR):c.2039G>A (p.Arg680His)	rs773146939
NM_000388.4(CASR):c.664G>A (p.Gly222Arg)	rs2107632066
NM_000393.5(COL5A2):c.1401G>A (p.Pro467=)	rs1553515794
NM_000443.4(ABCB4):c.3136C>T (p.Arg1046Ter)	rs759202962
NM_000444.6(PHEX):c.1366T>C (p.Trp456Arg)	rs1085308012
NM_000487.6(ARSA):c.1177_1178delinsGG (p.Thr393Gly)	rs2146717703
NM_000492.3(CFTR):c.1521_1523del (p.Phe508del)	rs113993960
NM_000492.4(CFTR):c.3368-2A>G	rs755416052
NM_000527.5(LDLR):c.1721G>A (p.Arg574His)	rs777188764
NM_000527.5(LDLR):c.2416dup (p.Val806fs)	rs773618064
NM_000527.5(LDLR):c.440C>T (p.Thr147Ile)	rs879254524
NM_000527.5(LDLR):c.589T>G (p.Cys197Gly)	rs730882085
NM_000528.4(MAN2B1):c.2248C>T (p.Arg750Trp)	rs80338680
NM_000531.6(OTC):c.618G>T (p.Met206Ile)	rs72558413
NM_000532.5(PCCB):c.654+462A>G	rs1576327011
NM_000535.7(PMS2):c.655G>T (p.Gly219Ter)	rs1064796190
NM_000540.3(RYR1):c.13565C>T (p.Pro4522Leu)	rs145167688
NM_000540.3(RYR1):c.7304G>A (p.Arg2435His)	rs28933396
NM_000543.5(SMPD1):c.872G>A (p.Arg291His)	rs1803161
NM_000550.3(TYRP1):c.1103del (p.Lys368fs)	rs387906560
NM_000642.3(AGL):c.118C>T (p.Gln40Ter)	rs771961377
NM_000782.5(CYP24A1):c.304G>C (p.Gly102Arg)	rs1568976122
NM_000834.5(GRIN2B):c.2459G>C (p.Gly820Ala)	rs797044849
NM_000944.5(PPP3CA):c.843C>G (p.His281Gln)	rs199706529
NM_001004127.3(ALG11):c.983AGA[1] (p.Lys329del)	rs1064794465
NM_001005242.3(PKP2):c.1820_1823dup (p.Ser608fs)	rs397517013
NM_001009944.3(PKD1):c.10167+25_10167+43del	rs1197421698
NM_001009944.3(PKD1):c.5976_5978del (p.Phe1992_Thr1993delinsLeu)	rs2092438025
NM_001029896.2(WDR45):c.397C>T (p.Arg133Ter)	rs797046101
NM_001032221.6(STXBP1):c.1168A>G (p.Ile390Val)	rs1554778420
NM_001032221.6(STXBP1):c.1216C>T (p.Arg406Cys)	rs796053367
NM_001032382.2(PQBP1):c.586C>T (p.Arg196Ter)	rs1557041672
NM_001035.3(RYR2):c.14711G>A (p.Gly4904Asp)	rs886038888
NM_001035.3(RYR2):c.727G>T (p.Glu243Ter)	rs794728712
NM_001037333.3(CYFIP2):c.720C>G (p.Asp240Glu)	rs1759029929
NM_001040142.2(SCN2A):c.81A>G (p.Gln27=)	rs1162322343
NM_001040616.3(LINS1):c.1873dup (p.Ser625fs)	rs2505320840
NM_001042424.3(NSD2):c.1069C>T (p.Pro357Ser)	rs2108804497
NM_001042492.3(NF1):c.1585C>T (p.Leu529Phe)	rs1135402816
NM_001042492.3(NF1):c.1658A>C (p.His553Pro)	rs1064794274
NM_001042492.3(NF1):c.2410-15A>G	rs1597715031
NM_001042492.3(NF1):c.2970_2972del (p.Met992del)	rs267606606
NM_001042492.3(NF1):c.4381A>T (p.Met1461Leu)	rs1555618675
NM_001042492.3(NF1):c.4835+1G>A	rs1085307819
NM_001042492.3(NF1):c.7909C>T (p.Arg2637Ter)	rs786201367
NM_001042492.3(NF1):c.7920T>G (p.Tyr2640Ter)	rs1060500333
NM_001042492.3(NF1):c.888+789A>G	rs1597660974
NM_001042681.2(RERE):c.3436C>T (p.Arg1146Trp)	rs1178020687
NM_001065.4(TNFRSF1A):c.123T>G (p.Asp41Glu)	rs104895271
NM_001079668.3(NKX2-1):c.664G>T (p.Glu222Ter)	rs1555349209
NM_001083116.3(PRF1):c.963del (p.Glu323fs)	rs2132476029
NM_001083962.2(TCF4):c.1165C>T (p.Arg389Cys)	rs2145503179
NM_001083962.2(TCF4):c.1738C>T (p.Arg580Trp)	rs121909120
NM_001110792.2(MECP2):c.710C>G (p.Pro237Arg)	rs61749715
NM_001110792.2(MECP2):c.961C>T (p.Arg321Trp)	rs61751444
NM_001114748.2(TMEM240):c.509C>T (p.Pro170Leu)	rs606231451
NM_001114753.3(ENG):c.1586G>A (p.Arg529His)	rs863223538
NM_001114980.2(TP63):c.1A>G (p.Met1Val)	rs1057520683
NM_001126108.2(SLC12A3):c.852+1G>A	rs2055084531
NM_001127222.2(CACNA1A):c.1647del (p.Phe550fs)	rs2058057299
NM_001127222.2(CACNA1A):c.2980G>T (p.Glu994Ter)	rs1600271575
NM_001127222.2(CACNA1A):c.526G>A (p.Val176Met)	rs1057521920
NM_001127222.2(CACNA1A):c.5702G>A (p.Arg1901His)	rs2144595024
NM_001130438.3(SPTAN1):c.6899ACCAGCTGG[1] (p.2300DQL[1])	rs587784440
NM_001142864.4(PIEZO1):c.6796G>A (p.Val2266Ile)	rs546338962
NM_001144967.3(NEDD4L):c.1455C>T (p.Tyr485=)	rs2516870215
NM_001145165.2(DOHH):c.654_655insAACC (p.Glu219fs)	rs761870531
NM_001145358.2(SIN3A):c.2152C>T (p.Arg718Ter)	rs1444395453
NM_001145358.2(SIN3A):c.3290G>A (p.Arg1097His)
NM_001164508.2(NEB):c.18228_18229insCC (p.Arg6077fs)	rs2552192665
NM_001165963.4(SCN1A):c.383+5C>A	rs1060502185
NM_001170629.2(CHD8):c.5326C>T (p.Arg1776Ter)	rs1085307794
NM_001170629.2(CHD8):c.846T>C (p.Gly282=)	rs919583163
NM_001174150.2(ARL13B):c.830dup (p.Asn277fs)	rs752472169
NM_001177316.2(SLC34A3):c.925+20_926-48del	rs1554784044
NM_001190274.2(FBXO11):c.2729A>G (p.Asp910Gly)	rs1670355281
NM_001256012.3(MYH10):c.4884+1G>A	rs2151813002
NM_001257180.2(SLC20A2):c.1723G>A (p.Glu575Lys)	rs387906653
NM_001267550.2(TTN):c.38442dup (p.Pro12815fs)	rs752101551
NM_001303256.3(MORC2):c.328C>T (p.Arg110Cys)	rs2040817364
NM_001303256.3(MORC2):c.394C>T (p.Arg132Cys)	rs1064795559
NM_001320.7(CSNK2B):c.292-2A>G	rs1802000298
NM_001348716.2(KDM6B):c.1085_1088del (p.Glu362fs)	rs769566928
NM_001348716.2(KDM6B):c.445C>T (p.Arg149Ter)	rs1419917079
NM_001349338.3(FOXP1):c.1540C>T (p.Arg514Cys)	rs869025203
NM_001351169.2(NT5C2):c.312_313del (p.Leu105fs)	rs763305896
NM_001352027.3(PHF21A):c.1958del (p.Pro653fs)	rs761575760
NM_001352514.2(HLCS):c.1093G>T (p.Val365Phe)	rs1569216588
NM_001360.3(DHCR7):c.1349_1350delinsTG (p.Arg450Leu)	rs1591107040
NM_001360.3(DHCR7):c.730G>A (p.Gly244Arg)	rs121909764
NM_001360.3(DHCR7):c.964-1G>C	rs138659167
NM_001360016.2(G6PD):c.1139T>C (p.Ile380Thr)	rs2523262863
NM_001363711.2(DUOX2):c.2895_2898del (p.Phe966fs)	rs530719719
NM_001363711.2(DUOX2):c.602dup (p.Gln202fs)	rs567500345
NM_001365999.1(SZT2):c.8811del (p.Ser2938fs)	rs745420974
NM_001367624.2(ZNF469):c.6444del (p.Gln2149fs)	rs886044697
NM_001368397.1(FRMPD4):c.928G>A (p.Val310Ile)	rs2147124913
NM_001369268.1(ACAN):c.7512T>G (p.Tyr2504Ter)	rs1567195445
NM_001370100.5(ZMYND11):c.1798C>T (p.Arg600Trp)	rs797044854
NM_001372.4(DNAH9):c.308del (p.Phe103fs)	rs769795916
NM_001376.5(DYNC1H1):c.1013A>G (p.Asp338Gly)	rs879254267
NM_001376.5(DYNC1H1):c.2327C>T (p.Pro776Leu)	rs1057518083
NM_001376.5(DYNC1H1):c.752G>A (p.Arg251His)	rs794727634
NM_001378778.1(MPDZ):c.1445T>A (p.Leu482Ter)	rs2495861105
NM_001378974.1(FBXW11):c.1403G>A (p.Arg468Gln)	rs1757708758
NM_001379200.1(TBX1):c.882G>C (p.Lys294Asn)	rs2145836461
NM_001379403.1(WDR26):c.823-10A>G	rs1674395504
NM_001386125.1(OBSCN):c.23838del (p.Ser7947fs)	rs71180793
NM_001399.5(EDA):c.706+1G>A	rs886039344
NM_001399.5(EDA):c.798T>C (p.Leu266=)	rs2147516257
NM_001457.4(FLNB):c.4185C>A (p.Tyr1395Ter)
NM_001561.6(TNFRSF9):c.573del (p.Ala193fs)	rs1639761448
NM_001613.4(ACTA2):c.325del (p.Glu109fs)	rs2133261333
NM_001658.4(ARF1):c.296G>A (p.Arg99His)	rs1558087712
NM_001844.5(COL2A1):c.1903G>C (p.Asp635His)
NM_001845.6(COL4A1):c.1952_1954del (p.Glu651del)	rs751234195
NM_001845.6(COL4A1):c.2008G>A (p.Gly670Arg)	rs1878248687
NM_001845.6(COL4A1):c.2494G>A (p.Gly832Arg)	rs797044867
NM_001846.4(COL4A2):c.4276G>A (p.Gly1426Arg)	rs2139553655
NM_001943.5(DSG2):c.3052dup (p.Glu1018fs)	rs1261674855
NM_001958.5(EEF1A2):c.1309G>T (p.Val437Phe)	rs1057521655
NM_001958.5(EEF1A2):c.71C>T (p.Thr24Met)	rs1064795618
NM_002016.2(FLG):c.1501C>T (p.Arg501Ter)	rs61816761
NM_002016.2(FLG):c.2282_2285del (p.Ser761fs)	rs558269137
NM_002016.2(FLG):c.6950_6957del (p.Ala2316_Ser2317insTer)	rs578184315
NM_002074.5(GNB1):c.233A>G (p.Lys78Arg)	rs869312823
NM_002074.5(GNB1):c.346G>A (p.Gly116Ser)	rs1231842600
NM_002225.5(IVD):c.1179del (p.Leu394fs)	rs786204613
NM_002225.5(IVD):c.349C>T (p.Arg117Ter)	rs776015412
NM_002225.5(IVD):c.464GTG[3] (p.Gly156dup)	rs796051982
NM_002232.5(KCNA3):c.1363A>G (p.Ile455Val)	rs2100949783
NM_002335.4(LRP5):c.209_210delinsAA (p.Phe70Ter)	rs2098614719
NM_002381.5(MATN3):c.653A>G (p.Tyr218Cys)	rs1673092558
NM_002474.3(MYH11):c.1069_1082del (p.Gly357fs)	rs1235801428
NM_002524.5(NRAS):c.38G>A (p.Gly13Asp)	rs121434596
NM_002693.3(POLG):c.126GCA[7] (p.Gln52_Gln55del)	rs41550117
NM_002693.3(POLG):c.830A>T (p.His277Leu)	rs138929605
NM_002693.3(POLG):c.970C>A (p.Pro324Thr)	rs2307437
NM_002693.3(POLG):c.970C>T (p.Pro324Ser)	rs2307437
NM_002834.5(PTPN11):c.1224A>G (p.Gln408=)	rs2540457229
NM_002834.5(PTPN11):c.1348A>G (p.Met450Val)	rs2038680566
NM_002834.5(PTPN11):c.178G>A (p.Gly60Ser)	rs397507507
NM_002834.5(PTPN11):c.179G>C (p.Gly60Ala)	rs397507509
NM_002834.5(PTPN11):c.802G>A (p.Gly268Ser)	rs397507527
NM_002878.4(RAD51D):c.584del (p.Gly195fs)	rs2509130611
NM_002878.4(RAD51D):c.94_95del (p.Val32fs)	rs786203137
NM_002880.4(RAF1):c.1629G>C (p.Thr543=)	rs5746244
NM_002880.4(RAF1):c.770C>T (p.Ser257Leu)	rs80338796
NM_002968.3(SALL1):c.826C>T (p.Arg276Ter)	rs104894537
NM_003011.4(SET):c.130_133del (p.Arg44fs)	rs1554776342
NM_003042.4(SLC6A1):c.855G>A (p.Trp285Ter)	rs2124924957
NM_003119.4(SPG7):c.1048C>A (p.Pro350Thr)	rs199789849
NM_003159.3(CDKL5):c.3075G>A (p.Ala1025=)	rs942884617
NM_003239.5(TGFB3):c.1080G>A (p.Thr360=)	rs1555360212
NM_003239.5(TGFB3):c.898C>T (p.Arg300Trp)	rs796051885
NM_003242.6(TGFBR2):c.1609C>T (p.Arg537Cys)	rs104893809
NM_003403.5(YY1):c.1124G>A (p.Arg375Gln)	rs2139605796
NM_003491.4(NAA10):c.472-20C>T	rs2521321260
NM_003709.4(KLF7):c.410C>T (p.Thr137Met)	rs1276619385
NM_003718.5(CDK13):c.2638C>T (p.Arg880Cys)	rs1005618432
NM_003722.5(TP63):c.1009C>T (p.Arg337Ter)	rs113993966
NM_003922.4(HERC1):c.6586C>T (p.Arg2196Ter)	rs774206954
NM_004035.7(ACOX1):c.1789_1792del (p.Leu596_Thr597insTer)	rs769644289
NM_004035.7(ACOX1):c.710A>G (p.Asn237Ser)	rs1567876984
NM_004187.5(KDM5C):c.2041C>T (p.Arg681Ter)	rs370032584
NM_004187.5(KDM5C):c.3758C>T (p.Pro1253Leu)	rs2146821316
NM_004268.5(MED17):c.1299_1302del (p.Ala435fs)	rs763249105
NM_004333.6(BRAF):c.111G>A (p.Ser37=)	rs727502906
NM_004333.6(BRAF):c.785A>G (p.Gln262Arg)	rs397516904
NM_004369.4(COL6A3):c.761del (p.Gly254fs)	rs780921503
NM_004380.3(CREBBP):c.3524A>G (p.Tyr1175Cys)	rs28937315
NM_004429.5(EFNB1):c.161C>T (p.Pro54Leu)	rs104894801
NM_004453.4(ETFDH):c.269T>A (p.Leu90Ter)	rs749085653
NM_004519.4(KCNQ3):c.328_329del (p.Leu110fs)	rs2537398102
NM_004519.4(KCNQ3):c.688C>T (p.Arg230Cys)	rs796052676
NM_004606.5(TAF1):c.4683C>T (p.His1561=)	rs2148611936
NM_004818.3(DDX23):c.2264C>T (p.Thr755Met)	rs1938372282
NM_004975.4(KCNB1):c.1297C>T (p.Arg433Ter)	rs1064794764
NM_004975.4(KCNB1):c.1747C>T (p.Arg583Ter)	rs781663444
NM_005121.3(MED13):c.3278G>A (p.Cys1093Tyr)	rs2509277010
NM_005188.4(CBL):c.1111T>A (p.Tyr371Asn)	rs267606706
NM_005208.5(CRYBA1):c.500+1G>T	rs775038545
NM_005359.6(SMAD4):c.1486C>T (p.Arg496Cys)	rs397518413
NM_005450.6(NOG):c.125C>T (p.Pro42Leu)	rs1018505000
NM_005633.4(SOS1):c.1873C>T (p.Arg625Trp)
NM_005633.4(SOS1):c.508A>G (p.Lys170Glu)	rs397517172
NM_005639.3(SYT1):c.926C>T (p.Ser309Phe)	rs2136007588
NM_006005.3(WFS1):c.409_424dup (p.Val142fs)	rs1362648752
NM_006009.4(TUBA1A):c.362G>A (p.Arg121Gln)	rs2121246284
NM_006015.6(ARID1A):c.3426G>T (p.Gln1142His)	rs2124103896
NM_006017.3(PROM1):c.1234del (p.Tyr412fs)	rs1460604134
NM_006218.4(PIK3CA):c.1345C>A (p.Pro449Thr)	rs1724674149
NM_006218.4(PIK3CA):c.3140A>G (p.His1047Arg)	rs121913279
NM_006218.4(PIK3CA):c.344G>C (p.Arg115Pro)	rs200018596
NM_006245.4(PPP2R5D):c.592G>A (p.Glu198Lys)	rs863225082
NM_006494.4(ERF):c.194G>A (p.Arg65Gln)	rs587777009
NM_006516.4(SLC2A1):c.1303ATC[1] (p.Ile436del)	rs864309522
NM_006517.5(SLC16A2):c.431-2A>G	rs2147869490
NM_006662.3(SRCAP):c.633+13G>T	rs1016999544
NM_006734.4(HIVEP2):c.5935C>T (p.Arg1979Ter)	rs1554275163
NM_006912.6(RIT1):c.244T>G (p.Phe82Val)	rs869025194
NM_006922.4(SCN3A):c.1060A>C (p.Lys354Gln)	rs1553535457
NM_006940.6(SOX5):c.1712G>A (p.Arg571Gln)	rs773832380
NM_006941.4(SOX10):c.523C>T (p.Pro175Ser)	rs1555938395
NM_006949.4(STXBP2):c.1621G>A (p.Gly541Ser)	rs61736587
NM_007059.4(KPTN):c.863+5G>A	rs774473819
NM_007194.4(CHEK2):c.1263del (p.Ser422fs)	rs587780174
NM_007194.4(CHEK2):c.480AGA[1] (p.Glu161del)	rs587782008
NM_007194.4(CHEK2):c.846+4_846+7del	rs764884641
NM_007294.4(BRCA1):c.4065_4068del (p.Asn1355fs)	rs80357508
NM_007325.5(GRIA3):c.2098G>A (p.Glu700Lys)	rs2045826576
NM_012193.4(FZD4):c.1282_1285del (p.Asp428fs)	rs80358295
NM_012199.5(AGO1):c.536TCT[1] (p.Phe180del)	rs1553154062
NM_012309.5(SHANK2):c.2521C>T (p.Arg841Ter)	rs2135751909
NM_013254.4(TBK1):c.1922AAG[2] (p.Glu643del)	rs1402092579
NM_013275.6(ANKRD11):c.7534C>T (p.Arg2512Trp)	rs2033536147
NM_013382.7(POMT2):c.1502A>C (p.Glu501Ala)
NM_014008.5(CCDC22):c.622G>A (p.Glu208Lys)	rs2147938135
NM_014141.6(CNTNAP2):c.3262C>T (p.Arg1088Ter)	rs766777011
NM_014305.4(TGDS):c.270_271del (p.Lys91fs)	rs727502809
NM_014458.4(KLHL20):c.1069G>A (p.Gly357Arg)	rs1673582111
NM_014795.4(ZEB2):c.3047G>A (p.Arg1016Gln)	rs2149875484
NM_014844.5(TECPR2):c.3508_3532dup (p.Gln1178fs)	rs2504458939
NM_014927.5(CNKSR2):c.1198C>T (p.Arg400Ter)	rs2519101342
NM_014946.4(SPAST):c.1348A>G (p.Arg450Gly)	rs1553318223
NM_014946.4(SPAST):c.1492A>G (p.Arg498Gly)	rs1553318350
NM_015001.3(SPEN):c.5806C>T (p.Arg1936Ter)	rs2071226510
NM_015001.3(SPEN):c.6223_6227del (p.Ser2075fs)	rs2148741007
NM_015100.4(POGZ):c.1135C>T (p.Arg379Ter)	rs1657533128
NM_015215.4(CAMTA1):c.4744C>T (p.Arg1582Ter)	rs2150160606
NM_015346.4(ZFYVE26):c.2554-1G>C	rs760559263
NM_015559.3(SETBP1):c.4139T>C (p.Leu1380Pro)	rs2073447990
NM_016023.5(OTUD6B):c.192_195del (p.Glu65fs)	rs748735420
NM_016580.4(PCDH12):c.309del (p.Cys104fs)	rs1753206427
NM_016580.4(PCDH12):c.669dup (p.Lys224fs)	rs776111123
NM_017654.4(SAMD9):c.2054G>A (p.Arg685Gln)	rs1064795431
NM_017780.4(CHD7):c.5355G>A (p.Trp1785Ter)	rs1554603276
NM_017934.7(PHIP):c.1654-6T>C	rs778036662
NM_017934.7(PHIP):c.187C>T (p.Leu63=)	rs1774230017
NM_017946.4(FKBP14):c.362dup (p.Glu122fs)	rs542489955
NM_018075.5(ANO10):c.132dup (p.Asp45fs)	rs540331226
NM_018255.4(ELP2):c.293dup (p.Leu98fs)	rs529659464
NM_019597.5(HNRNPH2):c.616C>T (p.Arg206Trp)	rs886039763
NM_019616.4(F7):c.1325del (p.Pro442fs)	rs750457207
NM_019842.4(KCNQ5):c.2228del (p.Ala743fs)	rs2150527930
NM_019892.6(INPP5E):c.473del (p.Gly158fs)	rs779450345
NM_020376.4(PNPLA2):c.1051del (p.Arg351fs)
NM_020751.3(COG6):c.1A>G (p.Met1Val)	rs752232501
NM_020771.4(HACE1):c.2552dup (p.Gly852fs)	rs745394044
NM_020987.5(ANK3):c.4365_4368del (p.Arg1456fs)	rs2084966849
NM_021008.4(DEAF1):c.825C>G (p.His275Gln)	rs144498322
NM_021224.6(ZNF462):c.4180del (p.Trp1394fs)	rs2538791482
NM_022132.5(MCCC2):c.1378A>G (p.Arg460Gly)
NM_022336.4(EDAR):c.1259G>A (p.Arg420Gln)	rs121908453
NM_022552.5(DNMT3A):c.2726T>C (p.Phe909Ser)	rs1673065619
NM_024577.4(SH3TC2):c.1586_1587delinsAG (p.Arg529Gln)	rs863224454
NM_024675.4(PALB2):c.3362del (p.Gly1121fs)	rs515726117
NM_024757.5(EHMT1):c.3310G>A (p.Glu1104Lys)	rs886041093
NM_025114.4(CEP290):c.4028del (p.Lys1343fs)	rs1213286417
NM_030632.3(ASXL3):c.4330C>T (p.Arg1444Ter)	rs1555744282
NM_031407.7(HUWE1):c.4615-7C>G	rs782418974
NM_031844.3(HNRNPU):c.1717AAG[1] (p.Lys574del)	rs2527506153
NM_032043.3(BRIP1):c.2990_2993del (p.Thr997fs)	rs771028677
NM_032861.4(SERAC1):c.1822_1828+10delinsACCAACAGG	rs1554260851
NM_033380.3(COL4A5):c.1120G>A (p.Gly374Arg)	rs2066342176
NM_033380.3(COL4A5):c.2294del (p.Pro765fs)	rs2066735315
NM_033380.3(COL4A5):c.938G>T (p.Gly313Val)	rs2147781020
NM_052867.4(NALCN):c.518G>A (p.Arg173Gln)	rs2548588794
NM_053274.3(GLMN):c.157_161del (p.Glu52_Lys53insTer)	rs762515373
NM_057175.4(NAA15):c.228_232del (p.Asp76Glufs)	rs1380822792
NM_057175.5(NAA15):c.1841dup (p.Asn614fs)	rs1283385686
NM_058216.3(RAD51C):c.1026+5_1026+7del	rs587781410
NM_130837.3(OPA1):c.507dup (p.Asp170Ter)	rs2474599159
NM_130839.5(UBE3A):c.2567_2570del (p.Lys856fs)	rs587784527
NM_138459.5(NUS1):c.415+1G>A	rs1772975334
NM_138927.4(SON):c.5753_5756del (p.Val1918fs)	rs886039773
NM_144991.3(TSPEAR):c.1178del (p.Pro393fs)	rs782224965
NM_145239.3(PRRT2):c.649dup (p.Arg217fs)	rs587778771
NM_152564.5(VPS13B):c.2158C>T (p.Gln720Ter)	rs777593389
NM_152564.5(VPS13B):c.7073G>A (p.Trp2358Ter)	rs1057516559
NM_152564.5(VPS13B):c.9331-1G>A	rs386834119
NM_152594.3(SPRED1):c.867dup (p.Ser290fs)	rs1424526290
NM_152703.5(SAMD9L):c.2956C>A (p.Arg986Ser)	rs1554341158
NM_152743.4(BRAT1):c.2291dup (p.Gly765fs)	rs1463777746
NM_170784.3(MKKS):c.624_625del (p.Arg208fs)	rs762613490
NM_172107.4(KCNQ2):c.1004C>T (p.Pro335Leu)	rs796052641
NM_173596.3(SLC39A5):c.1128del (p.His377fs)	rs1403479516
NM_176806.4(MOCS2):c.-8_15del (p.Met1fs)	rs397518417
NM_177402.5(SYT2):c.923C>T (p.Pro308Leu)	rs587777782
NM_182760.4(SUMF1):c.726-1_726del	rs1575196325
NM_182931.3(KMT2E):c.5153C>T (p.Pro1718Leu)	rs1799386566
NM_183075.3(CYP2U1):c.1584del (p.Phe528fs)	rs2477049390
NM_197968.4(ZMYM2):c.3538C>T (p.Arg1180Ter)	rs1247894077
NM_205861.3(DHDDS):c.110G>A (p.Arg37His)	rs1553121073
NM_206933.4(USH2A):c.5614delinsTTAACTTGGCAT (p.Ala1872fs)	rs869312180