Variants from Dasa with conflicting interpretations

Minimum review status of the submission from Dasa:	★☆☆☆ criteria provided ★★★☆ reviewed by expert panel ★★★★ practice guideline	Collection method of the submission from Dasa:	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
870	1369	16	917	150	37	242	1120

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
Dasa		pathogenic	likely pathogenic	uncertain significance	likely benign	benign	association	drug response	protective	other
	pathogenic	15	665	170	13	12	2	17	1	16
	likely pathogenic	91	1	50	3	1	0	0	0	0
	uncertain significance	4	5	0	22	6	0	1	0	0
	likely benign	1	0	85	0	63	0	0	0	0
	benign	4	0	41	98	0	0	1	0	1

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
GeneDx	0	1202	2	154	39	0	45	240
CeGaT Center for Human Genetics Tuebingen	0	581	0	102	20	0	20	142
PreventionGenetics, part of Exact Sciences	0	504	2	107	14	0	16	139
Labcorp Genetics (formerly Invitae), Labcorp	0	739	3	86	11	1	25	126
Eurofins Ntd Llc (ga)	0	347	0	34	12	5	45	96
Women's Health and Genetics/Laboratory Corporation of America, LabCorp	0	186	0	42	20	0	24	86
Revvity Omics, Revvity	0	290	0	60	6	0	10	76
Mayo Clinic Laboratories, Mayo Clinic	0	338	0	50	9	0	15	74
Genetic Services Laboratory, University of Chicago	0	130	0	44	15	2	6	67
Clinical Genetics DNA and cytogenetics Diagnostics Lab, Erasmus MC, Erasmus Medical Center	0	208	0	42	4	0	9	55
Joint Genome Diagnostic Labs from Nijmegen and Maastricht, Radboudumc and MUMC+	0	234	0	42	3	0	8	53
Center for Genomic Medicine, Rigshospitalet, Copenhagen University Hospital	0	104	0	28	16	0	7	51
Quest Diagnostics Nichols Institute San Juan Capistrano	0	207	0	30	16	0	5	51
ARUP Laboratories, Molecular Genetics and Genomics, ARUP Laboratories	0	238	1	30	10	0	4	45
Department of Pathology and Laboratory Medicine, Sinai Health System	0	62	1	21	9	0	14	45
Counsyl	0	63	0	33	7	0	4	44
OMIM	0	148	9	14	0	14	6	43
Laboratory for Molecular Medicine, Mass General Brigham Personalized Medicine	0	67	0	14	9	0	17	40
Ambry Genetics	0	127	0	29	3	0	6	38
Institute for Clinical Genetics, University Hospital TU Dresden, University Hospital TU Dresden	0	69	0	18	17	0	3	38
Mendelics	0	86	0	26	6	0	3	35
Fulgent Genetics, Fulgent Genetics	0	113	0	27	4	0	1	32
Illumina Laboratory Services, Illumina	0	89	0	24	4	0	3	31
Genome Diagnostics Laboratory, Amsterdam University Medical Center	0	89	0	25	2	0	3	30
AiLife Diagnostics, AiLife Diagnostics	0	43	0	25	1	0	2	28
Diagnostic Laboratory, Department of Genetics, University Medical Center Groningen	0	154	0	23	3	0	2	28
Breakthrough Genomics, Breakthrough Genomics	0	35	0	25	0	0	1	26
Breast Cancer Information Core (BIC) (BRCA2)	0	27	0	1	23	0	1	25
Laboratorio de Genetica e Diagnostico Molecular, Hospital Israelita Albert Einstein	0	83	0	19	1	0	4	24
Clinical Genetics Laboratory, Skane University Hospital Lund	0	155	0	21	2	0	0	23
Laboratory of Diagnostic Genome Analysis, Leiden University Medical Center (LUMC)	0	56	0	20	2	0	1	23
Athena Diagnostics	0	144	0	16	0	0	6	22
Genomic Medicine Center of Excellence, King Faisal Specialist Hospital and Research Centre	0	43	0	14	0	0	5	19
Baylor Genetics	0	132	0	16	0	0	2	18
Genome Diagnostics Laboratory, University Medical Center Utrecht	0	121	0	17	0	0	1	18
Institute of Medical Genetics and Applied Genomics, University Hospital Tübingen	0	140	0	18	0	0	0	18
Breast Cancer Information Core (BIC) (BRCA1)	0	36	0	0	12	0	5	17
Center for Pediatric Genomic Medicine, Children's Mercy Hospital and Clinics	0	83	0	10	0	0	7	17
Genetics Laboratory, Great Ormond Street Hospital NHS Foundation Trust, North Thames Genomic Laboratory Hub	0	43	0	10	0	0	7	17
ClinPGx	0	0	0	0	0	16	0	16
Institute of Human Genetics, University of Leipzig Medical Center	0	61	0	13	2	0	1	16
Laboratory of Genetics, Children's Clinical University Hospital Latvia	0	78	0	14	1	0	1	16
Natera, Inc.	0	68	0	14	0	0	2	16
CHEO Genetics Diagnostic Laboratory, Children's Hospital of Eastern Ontario	0	22	0	11	4	0	0	15
Sharing Clinical Reports Project (SCRP)	0	70	0	13	2	0	0	15
Stanford Center for Inherited Cardiovascular Disease, Stanford University	0	18	0	12	0	0	2	14
Clinical Genetics and Genomics, Karolinska University Hospital	0	45	0	13	0	0	0	13
All of Us Research Program, National Institutes of Health	0	27	0	4	2	0	6	12
Centre of Medical Genetics, University Hospital Muenster	0	31	0	9	1	0	2	12
Clinical Genetics, Academic Medical Center	0	69	0	8	1	0	3	12
NIHR Bioresource Rare Diseases, University of Cambridge	0	8	0	10	0	0	2	12
Evidence-based Network for the Interpretation of Germline Mutant Alleles (ENIGMA)	0	87	0	9	1	0	0	10
Genome-Nilou Lab	0	43	0	9	1	0	0	10
3billion	0	94	0	8	0	0	1	9
Blueprint Genetics	0	43	0	5	0	0	4	9
Centre for Mendelian Genomics, University Medical Centre Ljubljana	0	32	0	6	0	0	3	9
Kariminejad - Najmabadi Pathology & Genetics Center	0	24	0	9	0	0	0	9
Variantyx, Inc.	0	68	0	9	0	0	0	9
Biesecker Lab/Clinical Genomics Section, National Institutes of Health	0	6	0	1	6	0	1	8
CSER _CC_NCGL, University of Washington	0	4	0	2	3	0	3	8
Color Diagnostics, LLC DBA Color Health	0	9	0	3	0	0	5	8
Michigan Medical Genetics Laboratories, University of Michigan	0	20	0	7	1	0	0	8
Molecular Diagnostic Laboratory for Inherited Cardiovascular Disease, Montreal Heart Institute	0	35	0	7	1	0	0	8
Myriad Genetics, Inc.	0	40	0	8	0	0	0	8
MGZ Medical Genetics Center	0	39	0	7	0	0	0	7
NHS Central & South Genomic Laboratory Hub	0	40	0	7	0	0	0	7
SIB Swiss Institute of Bioinformatics	0	1	0	7	0	0	0	7
Genetics and Molecular Pathology, SA Pathology	0	22	0	6	0	0	0	6
Greenwood Genetic Center Diagnostic Laboratories, Greenwood Genetic Center	0	67	0	5	0	0	1	6
Victorian Clinical Genetics Services, Murdoch Childrens Research Institute	0	67	0	6	0	0	0	6
Department of Clinical Genetics, Copenhagen University Hospital, Rigshospitalet	0	16	1	3	0	0	1	5
Equipe Genetique des Anomalies du Developpement, Université de Bourgogne	0	21	0	4	0	0	1	5
Genomic Diagnostic Laboratory, Division of Genomic Diagnostics, Children's Hospital of Philadelphia	0	13	0	0	3	0	2	5
Genomic Research Center, Shahid Beheshti University of Medical Sciences	0	21	0	3	0	0	2	5
Genomics England Pilot Project, Genomics England	0	3	0	5	0	0	0	5
HudsonAlpha Institute for Biotechnology, HudsonAlpha Institute for Biotechnology	0	14	0	4	0	0	1	5
Pathway Genomics	0	6	0	5	0	0	0	5
Practice for Gait Abnormalities, David Pomarino, Competency Network Toe Walking C/o Practice Pomarino	0	4	0	4	0	0	1	5
Rady Children's Institute for Genomic Medicine, Rady Children's Hospital San Diego	0	59	0	5	0	0	0	5
Center for Personalized Medicine, Children's Hospital Los Angeles	0	8	0	3	0	0	1	4
Johns Hopkins Genomics, Johns Hopkins University	0	13	0	4	0	0	0	4
Laboratory of Medical Genetics, National & Kapodistrian University of Athens	0	17	0	4	0	0	0	4
New York Genome Center	0	20	0	4	0	0	0	4
Solve-RD Consortium	0	0	0	4	0	0	0	4
Yale Center for Mendelian Genomics, Yale University	0	0	0	4	0	0	0	4
BRCAlab, Lund University	0	41	0	3	0	0	0	3
Center for Medical Genetics Ghent, University of Ghent	0	3	0	1	0	0	2	3
Centre for Clinical Genetics and Genomic Diagnostics, Zealand University Hospital	0	7	0	3	0	0	0	3
Department of Human Genetics, Hannover Medical School	0	17	0	3	0	0	0	3
Department of Medical Genetics, University Hospital of North Norway	0	0	0	2	1	0	0	3
Dubai Health Genomic Medicine Center, Dubai Health	0	25	0	1	0	0	2	3
Genomics and Molecular Medicine Service, East Genomic Laboratory Hub, NHS Genomic Medicine Service	0	9	0	2	0	0	1	3
Kasturba Medical College, Manipal, Kasturba Medical College, Manipal, Manipal Academy of Higher Education, Manipal, India	0	11	0	3	0	0	0	3
Medical and Scientific Branch, Hong Kong Genome Institute	0	6	0	3	0	0	0	3
Undiagnosed Diseases Network, NIH	0	9	0	3	0	0	0	3
University of Washington Center for Mendelian Genomics, University of Washington	0	0	0	3	0	0	0	3
Biochemical Molecular Genetic Laboratory, King Abdulaziz Medical City	0	10	0	2	0	0	0	2
Bioscientia Institut fuer Medizinische Diagnostik GmbH, Sonic Healthcare	0	6	0	2	0	0	0	2
CENTOGENE GmbH and LLC - Guiding Precision Medicine	0	19	0	2	0	0	0	2
Cambridge Genomics Laboratory, East Genomic Laboratory Hub, NHS Genomic Medicine Service	0	13	0	1	0	0	1	2
Center for Human Genetics, Inc, Center for Human Genetics, Inc	0	11	0	2	0	0	0	2
ClinGen Malignant Hyperthermia Susceptibility Variant Curation Expert Panel, ClinGen	0	2	0	0	1	0	1	2
ClinVar Staff, National Center for Biotechnology Information (NCBI)	0	0	0	1	0	0	1	2
Clinical Genetics Laboratory, Department of Pathology, Netherlands Cancer Institute	0	9	0	0	2	0	0	2
Clinical Molecular Genetics Laboratory, Johns Hopkins All Children's Hospital	0	6	0	2	0	0	0	2
Department of Medical and Surgical Sciences, University of Bologna	0	2	0	1	1	0	0	2
Department of Ophthalmology and Visual Sciences Kyoto University	0	1	0	0	0	0	2	2
First Genomix Gene Laboratory, Genetic Diagnostics Department	0	10	0	2	0	0	0	2
Genetic Testing Center for Deafness, Department of Otolaryngology Head & Neck Surgery, Institute of Otolaryngology, Chinese PLA General Hospital	0	0	0	2	0	0	0	2
Genetics and Genomic Medicine Centre, NeuroGen Healthcare, NeuroGen Healthcare	0	7	0	2	0	0	0	2
Gharavi Laboratory, Columbia University	0	14	0	2	0	0	0	2
HLA Laboratory, Instituto Nacional de Enfermedades Respiratorias Ismael Cosio Villegas	0	0	0	0	0	1	1	2
Human Genome Sequencing Center Clinical Lab, Baylor College of Medicine	0	19	0	2	0	0	0	2
Institute for Genomic Medicine (IGM) Clinical Laboratory, Nationwide Children's Hospital	0	9	1	1	0	0	0	2
Institute for Genomic Statistics and Bioinformatics, University Hospital Bonn	0	2	0	2	0	0	0	2
Institute of Reproductive Genetics, University of Münster	0	3	0	1	0	0	1	2
KCCC/NGS Laboratory, Kuwait Cancer Control Center	0	23	0	2	0	0	0	2
Knight Diagnostic Laboratories, Oregon Health and Sciences University	0	23	0	2	0	0	0	2
Laan Lab, Human Genetics Research Group, University of Tartu	0	3	0	2	0	0	0	2
Laboratoire Génétique Moléculaire, CHRU TOURS	0	1	0	2	0	0	0	2
Leiden Open Variation Database	0	4	0	1	0	0	1	2
Molecular Diagnostics Lab, Nemours Children's Health, Delaware	0	12	0	2	0	0	0	2
Neuberg Centre For Genomic Medicine, NCGM	0	34	0	2	0	0	0	2
OLLIN Analises Genomicas, OLLIN	0	20	0	2	0	0	0	2
Ocular Genomics Institute, Massachusetts Eye and Ear	0	1	0	2	0	0	0	2
Soonchunhyang University Bucheon Hospital, Soonchunhyang University Medical Center	0	0	0	1	0	0	1	2
St. Jude Molecular Pathology, St. Jude Children's Research Hospital	0	9	0	1	1	0	0	2
Zotz-Klimas Genetics Lab, MVZ Zotz Klimas	0	10	0	2	0	0	0	2
Anatomical Molecular Laboratory, Singapore General Hospital	0	0	0	1	0	0	0	1
Aziz Sancar Institute of Experimental Medicine, Istanbul University	0	0	0	0	0	1	0	1
Baylor-Hopkins Center for Mendelian Genomics, Johns Hopkins University School of Medicine	0	0	0	1	0	0	0	1
Biology Molecular and Stem Cell Facilities Laboratory, National Cardiovascular Center, Harapan Kita Hospital	0	0	0	0	0	0	1	1
Broad Center for Mendelian Genomics, Broad Institute of MIT and Harvard	0	16	0	0	0	0	1	1
Brunham Lab, Centre for Heart and Lung Innovation, University of British Columbia	0	0	0	1	0	0	0	1
CZECANCA consortium	0	6	0	1	0	0	0	1
Cancer Variant Interpretation Group UK, Institute of Cancer Research, London	0	0	0	1	0	0	0	1
Cardiovascular Genetics Laboratory, PathWest Laboratory Medicine WA - Fiona Stanley Hospital	0	0	0	1	0	0	0	1
Care4Rare-SOLVE, CHEO	0	0	0	0	0	0	1	1
Catlab - Consorci Sanitari de Terrassa	0	0	0	0	0	0	1	1
Cavalleri Lab, Royal College of Surgeons in Ireland	0	1	0	1	0	0	0	1
Cellular and Molecular Medicine Research Institute, Urmia University of Medical Sciences	0	0	0	1	0	0	0	1
Center for Bioinformatics, Peking University	0	0	0	1	0	0	0	1
Center for Genomics, Ann and Robert H. Lurie Children's Hospital of Chicago	0	7	0	0	1	0	0	1
Center for Human Genetics, University of Leuven	0	0	0	1	0	0	0	1
Center of Medical Genetics and Primary Health Care	0	0	0	0	1	0	0	1
Centre de Génétique Moléculaire et Chromosomique, Unité de génétique de l'Obésité et des Dyslipidémies, APHP, GH Hôpitaux Universitaires Pitié-Salpêtrière / Charles-Foix	0	1	0	1	0	0	0	1
Centre for Inherited Metabolic Diseases, Karolinska University Hospital	0	1	0	1	0	0	0	1
Centre of Medical Genetics, University of Antwerp	0	2	0	1	0	0	0	1
ClinGen Familial Hypercholesterolemia Variant Curation Expert Panel	0	1	0	1	0	0	0	1
Clinical Genomics Laboratory, Washington University in St. Louis	0	13	0	0	0	0	1	1
Clinical Laboratory Sciences Program (CLSP), King Saud bin Abdulaziz University for Health Sciences (KSAU-HS)	0	9	0	1	0	0	0	1
Constitutional Genetics Lab, Leon Berard Cancer Center	0	4	0	0	1	0	0	1
Courtagen Diagnostics Laboratory, Courtagen Life Sciences	0	4	0	1	0	0	0	1
Daryl Scott Lab, Baylor College of Medicine	0	23	0	1	0	0	0	1
Department of Endocrinology, Genetics and Metabolism, Shanghai Children's Medical Center	0	0	0	1	0	0	0	1
Department of Genetics, Reproduction and Fetal Medicine., Institute of Biomedicine of Seville (IBIS), University Hospital Virgen del Rocío/CSIC/University of Seville.	0	0	0	0	0	0	1	1
Department of Medical Genetics, Oslo University Hospital	0	15	0	1	0	0	0	1
Department of Molecular Diagnostics, Institute of Oncology Ljubljana	0	8	0	1	0	0	0	1
Department of Pediatric Oncology, Hematology and Clinical Immunology, University Clinics Duesseldorf	0	0	0	0	0	0	1	1
Diagnostics Centre, Carl Von Ossietzky University Oldenburg	0	0	0	1	0	0	0	1
Division of Human Genetics, Children's Hospital of Philadelphia	0	11	0	1	0	0	0	1
Dobyns Lab, Seattle Children's Research Institute	0	0	0	1	0	0	0	1
Elsea Laboratory, Baylor College of Medicine	0	2	0	0	0	0	1	1
European Hospital Georges Pompidou Genetics Department, Assistance Publique - Hôpitaux de Paris AP-HP	0	1	0	1	0	0	0	1
Fundacion Hipercolesterolemia Familiar	0	1	0	0	0	0	1	1
Gene Discovery Core-Manton Center, Boston Children's Hospital	0	0	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	7	0	1	0	0	0	1
Genome Diagnostics Laboratory, The Hospital for Sick Children	0	5	0	0	0	0	1	1
Hadassah Hebrew University Medical Center	0	6	0	1	0	0	0	1
Human Genomics Unit, Institute for molecular medicine Finland (FIMM)	0	0	0	1	0	0	0	1
ISTH-SSC Genomics in Thrombosis and Hemostasis, KU Leuven, Center for Molecular and Vascular Biology	0	0	0	1	0	0	0	1
Iberoamerican FH Network	0	0	0	0	0	0	1	1
Imagene.me medical diagnostic laboratory, IMAGENE.ME SA	0	3	0	1	0	0	0	1
Immunogenetics and Transplant Biology Service, University Hospital "Città della Salute e della Scienza di Torino"	0	1	0	1	0	0	0	1
Inherited Neuropathy Consortium Ii, University Of Miami	0	0	0	0	0	0	1	1
Institute for Medical Genetics and Human Genetics, Charité - Universitätsmedizin Berlin	0	9	0	1	0	0	0	1
Institute of Human Genetics Munich, TUM University Hospital	0	27	0	1	0	0	0	1
Institute of Human Genetics, FAU Erlangen, Friedrich-Alexander-Universität Erlangen-Nürnberg	0	10	0	1	0	0	0	1
Institute of Human Genetics, Medical University Innsbruck	0	7	0	1	0	0	0	1
Institute of Immunology and Genetics Kaiserslautern	0	12	0	1	0	0	0	1
Juha Muilu Group; Institute for Molecular Medicine Finland (FIMM)	0	1	0	1	0	0	0	1
Juno Genomics, Hangzhou Juno Genomics, Inc	0	39	0	1	0	0	0	1
King Laboratory, University of Washington	0	3	0	0	1	0	0	1
Klaassen Lab, Charite University Medicine Berlin	0	0	0	1	0	0	0	1
LDLR-LOVD, British Heart Foundation	0	1	0	1	0	0	0	1
Laboratoire de Biologie et Génétique du Cancer, Centre François Baclesse	0	0	0	0	1	0	0	1
Laboratorium voor Moleculaire Diagnostiek Experimentele Vasculaire Geneeskunde, Academisch Medisch Centrum	0	1	0	1	0	0	0	1
Laboratory of Diagnosis and Therapy of Lysosomal Disorders, University of Padova	0	2	0	1	0	0	0	1
Laboratory of Genetics and Molecular Cardiology, University of São Paulo	0	1	0	0	0	0	1	1
Laboratory of Molecular Genetics and Genomics, Rennes University Hospital	0	0	0	1	0	0	0	1
Lifecell International Pvt. Ltd	0	5	0	1	0	0	0	1
Lupski Lab, Baylor-Hopkins CMG, Baylor College of Medicine	0	1	0	1	0	0	0	1
MVZ Martinsried, Medicover Genetics	0	0	0	1	0	0	0	1
Medical Genetics Summaries	0	0	0	0	0	1	0	1
Molecular Biology Laboratory, Fundació Puigvert	0	0	0	1	0	0	0	1
Molecular Diagnostics Laboratory, Catalan Institute of Oncology	0	2	0	1	0	0	0	1
Molecular Endocrinology Laboratory, Christian Medical College	0	2	0	1	0	0	0	1
Molecular Genetics Department, Kulakov National Medical Research Center for Obstetrics, Gynecology and Perinatology	0	0	0	1	0	0	0	1
Molecular Genetics laboratory, Necker Hospital	0	4	0	1	0	0	0	1
Molecular Genetics, Royal Melbourne Hospital	0	11	0	1	0	0	0	1
Molecular Medicine for Neurodegenerative and Neuromuscular Diseases Unit, IRCCS Fondazione Stella Maris	0	3	0	1	0	0	0	1
Muscle and Diseases Team, Institut de Génétique et Biologie Moléculaire et Cellulaire	0	0	0	1	0	0	0	1
Myelin Disorders Clinic-Children's Medical Center/Medical Genetics Lab-Tarbiat Modares University, Children's Medical Center, Pediatrics Center of Excellence,	0	0	0	0	0	0	1	1
Nephrology, University of Crete, University General Hospital of Heraklion	0	0	0	1	0	0	0	1
Northcott Neuroscience Laboratory, ANZAC Research Institute	0	0	0	0	0	0	1	1
Otogenetics	0	2	0	1	0	0	0	1
Oxford Haemato-Oncology Service, Oxford University Hospitals NHS Foundation Trust	0	0	0	0	0	1	0	1
Paris Brain Institute, Inserm - ICM	0	3	0	1	0	0	0	1
Pathology and Clinical Laboratory Medicine, King Fahad Medical City	0	1	0	0	0	0	1	1
Rare Kidney Stone Consortium and the Mayo Clinic Hyperoxaluria Center, Mayo Clinic	0	0	0	1	0	0	0	1
SNPedia	0	2	0	1	0	0	0	1
Sema4, Sema4	0	1	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
SingHealth Duke-NUS Institute of Precision Medicine	0	0	0	0	0	0	1	1
Suma Genomics	0	5	0	0	0	0	1	1
Sydney Genome Diagnostics, Children's Hospital Westmead	0	1	0	1	0	0	0	1
True Health Diagnostics	0	0	0	1	0	0	0	1
U4M - Lille University & CHRU Lille, Université de Lille - CHRU de Lille	0	1	0	1	0	0	0	1
UCLA Clinical Genomics Center, UCLA	0	1	0	1	0	0	0	1
UNC Molecular Genetics Laboratory, University of North Carolina at Chapel Hill	0	9	0	1	0	0	0	1
Unidad de Genómica Garrahan, Hospital de Pediatría Garrahan	0	0	0	1	0	0	0	1
Unidad de Genómica Médica UC, Pontificia Universidad Católica de Chile	0	0	0	1	0	0	0	1
University of Washington Department of Laboratory Medicine, University of Washington	0	3	1	0	0	0	0	1

All variants with conflicting interpretations #

HGVS	dbSNP	gnomAD frequency
NM_000186.4(CFH):c.184G>A (p.Val62Ile)	rs800292	0.40446
NM_000335.5(SCN5A):c.1673A>G (p.His558Arg)	rs1805124	0.24768
NM_001378373.1(MBL2):c.161G>A (p.Gly54Asp)	rs1800450	0.11335
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_003661.4(APOL1):c.1024A>G (p.Ser342Gly)	rs73885319	0.06773
NM_005105.5(RBM8A):c.*6C>G	rs12079762	0.04454
NM_000152.3(GAA):c.2065G>A (p.Glu689Lys)	rs1800309	0.04394
NM_000492.4(CFTR):c.-8G>C	rs1800501	0.04368
NM_000410.4(HFE):c.845G>A (p.Cys282Tyr)	rs1800562	0.03738
NM_000402.4(G6PD):c.292G>A (p.Val98Met)	rs1050828	0.03616
NM_001370658.1(BTD):c.1270G>C (p.Asp424His)	rs13078881	0.03225
NM_014625.4(NPHS2):c.686G>A (p.Arg229Gln)	rs61747728	0.02796
NM_001127701.1(SERPINA1):c.863A>T (p.Glu288Val)	rs17580	0.02788
NM_000123.4(ERCC5):c.767A>G (p.Gln256Arg)	rs4150313	0.02531
NM_001018115.3(FANCD2):c.516A>G (p.Ile172Met)	rs35173688	0.02009
NM_020937.4(FANCM):c.229A>G (p.Thr77Ala)	rs61746895	0.01981
NM_000237.3(LPL):c.106G>A (p.Asp36Asn)	rs1801177	0.01951
NM_005105.5(RBM8A):c.-21G>A	rs139428292	0.01871
NM_000130.4(F5):c.1601G>A (p.Arg534Gln)	rs6025	0.01762
NM_022051.3(EGLN1):c.471G>C (p.Gln157His)	rs61750991	0.01753
NM_016616.4(NME8):c.271-27C>T	rs117149381	0.01701
NM_017841.4(SDHAF2):c.36+10G>A	rs114207859	0.01460
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_000055.2(BCHE):c.293A>G (p.Asp98Gly)	rs1799807	0.01259
NM_025137.4(SPG11):c.1698T>G (p.Asp566Glu)	rs79708848	0.01180
UGT1A1*6	rs4148323	0.01140
NM_022725.4(FANCF):c.959C>T (p.Pro320Leu)	rs45451294	0.01139
NM_000551.4(VHL):c.340+648T>C	rs73024533	0.01009
NM_000500.9(CYP21A2):c.188A>T (p.His63Leu)	rs9378252	0.00964
NM_007294.4(BRCA1):c.2458A>G (p.Lys820Glu)	rs56082113	0.00964
NM_000506.5(F2):c.*97G>A	rs1799963	0.00953
NM_004004.6(GJB2):c.101T>C (p.Met34Thr)	rs35887622	0.00944
NM_144672.4(OTOA):c.2359G>T (p.Glu787Ter)	rs200988634	0.00927
NM_000492.4(CFTR):c.1210-11T>G	rs73715573	0.00886
NM_018648.4(NOP10):c.34G>C (p.Asp12His)	rs146261631	0.00851
NM_000059.4(BRCA2):c.3264T>C (p.Pro1088=)	rs36060526	0.00793
NM_003126.4(SPTA1):c.1958A>G (p.Tyr653Cys)	rs148912436	0.00793
NM_002439.5(MSH3):c.1567G>A (p.Glu523Lys)	rs34058399	0.00751
NM_002890.3(RASA1):c.-198G>T	rs149279711	0.00708
NM_001902.6(CTH):c.200C>T (p.Thr67Ile)	rs28941785	0.00693
NM_000264.5(PTCH1):c.2183C>T (p.Thr728Met)	rs115556836	0.00678
NM_005228.5(EGFR):c.2963A>C (p.His988Pro)	rs17290699	0.00672
NM_000135.4(FANCA):c.2574C>G (p.Ser858Arg)	rs17233141	0.00567
NM_000083.3(CLCN1):c.2680C>T (p.Arg894Ter)	rs55960271	0.00561
NM_000038.6(APC):c.1959G>A (p.Arg653=)	rs72541809	0.00554
NM_005105.5(RBM8A):c.67+32G>C	rs201779890	0.00518
NM_022168.4(IFIH1):c.2807+1G>A	rs35732034	0.00502
NM_201384.3(PLEC):c.3869A>G (p.Lys1290Arg)	rs200895043	0.00500
NM_001048174.2(MUTYH):c.421-4A>G	rs201678305	0.00496
NM_000059.4(BRCA2):c.5199C>T (p.Ser1733=)	rs28897734	0.00488
NM_000350.3(ABCA4):c.4253+43G>A	rs61754045	0.00486
NM_000371.4(TTR):c.424G>A (p.Val142Ile)	rs76992529	0.00475
NM_000110.4(DPYD):c.1905+1G>A	rs3918290	0.00474
NM_000250.2(MPO):c.2031-2A>C	rs35897051	0.00472
NM_033100.4(CDHR1):c.783G>A (p.Pro261=)	rs147346345	0.00446
NM_006231.4(POLE):c.6817A>T (p.Thr2273Ser)	rs73481453	0.00444
NM_207361.6(FREM2):c.4031G>A (p.Arg1344His)	rs143044921	0.00430
NM_000791.4(DHFR):c.-411G>A	rs201149584	0.00411
NM_007194.4(CHEK2):c.470T>C (p.Ile157Thr)	rs17879961	0.00408
NM_003079.5(SMARCE1):c.1231G>T (p.Glu411Ter)	rs62622817	0.00398
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_004260.4(RECQL4):c.3133G>A (p.Ala1045Thr)	rs35348691	0.00390
NM_000136.3(FANCC):c.1329+175C>T	rs112446681	0.00385
NM_000152.5(GAA):c.-32-13T>G	rs386834236	0.00380
NM_000304.4(PMP22):c.353C>T (p.Thr118Met)	rs104894619	0.00378
NM_000552.5(VWF):c.2561G>A (p.Arg854Gln)	rs41276738	0.00378
NM_004656.4(BAP1):c.1838C>T (p.Thr613Met)	rs35448940	0.00377
NM_004656.4(BAP1):c.783G>A (p.Gln261=)	rs35003777	0.00377
NM_000372.5(TYR):c.1217C>T (p.Pro406Leu)	rs104894313	0.00375
NM_001042492.3(NF1):c.3198-4T>C	rs587782218	0.00365
NM_003119.4(SPG7):c.1529C>T (p.Ala510Val)	rs61755320	0.00364
NM_004656.4(BAP1):c.1729+8T>C	rs150945583	0.00364
NM_015836.4(WARS2):c.37T>G (p.Trp13Gly)	rs139548132	0.00360
NM_000059.4(BRCA2):c.2960A>T (p.Asn987Ile)	rs2227944	0.00356
NM_000275.3(OCA2):c.1327G>A (p.Val443Ile)	rs121918166	0.00350
NM_000492.4(CFTR):c.220C>T (p.Arg74Trp)	rs115545701	0.00350
NM_000135.4(FANCA):c.4249C>G (p.His1417Asp)	rs17227403	0.00349
NM_000016.6(ACADM):c.985A>G (p.Lys329Glu)	rs77931234	0.00347
NM_000368.5(TSC1):c.1342C>T (p.Pro448Ser)	rs118203518	0.00346
NM_016038.4(SBDS):c.258+2T>C	rs113993993	0.00337
NM_000110.4(DPYD):c.2846A>T (p.Asp949Val)	rs67376798	0.00334
NM_000059.4(BRCA2):c.2786T>C (p.Leu929Ser)	rs2227943	0.00322
NM_000035.4(ALDOB):c.448G>C (p.Ala150Pro)	rs1800546	0.00319
NM_000059.4(BRCA2):c.6412G>T (p.Val2138Phe)	rs11571659	0.00318
NM_198253.3(TERT):c.1234C>T (p.His412Tyr)	rs34094720	0.00316
NM_004360.5(CDH1):c.1774G>A (p.Ala592Thr)	rs35187787	0.00311
NM_020975.6(RET):c.166C>A (p.Leu56Met)	rs145633958	0.00310
NM_032638.5(GATA2):c.710G>A (p.Gly237Asp)	rs191501191	0.00310
NM_001371596.2(MFSD8):c.1006G>C (p.Glu336Gln)	rs150418024	0.00299
NM_001089.3(ABCA3):c.875A>T (p.Glu292Val)	rs149989682	0.00293
NM_000059.4(BRCA2):c.4681C>A (p.His1561Asn)	rs2219594	0.00292
NM_000059.4(BRCA2):c.7805+6C>G	rs81002819	0.00290
NM_004484.4(GPC3):c.1167-8T>C	rs182950534	0.00287
NM_000298.6(PKLR):c.1456C>T (p.Arg486Trp)	rs116100695	0.00279
NM_000059.4(BRCA2):c.68-7T>A	rs81002830	0.00277
NM_002691.4(POLD1):c.778A>G (p.Ile260Val)	rs8105725	0.00275
NM_007194.4(CHEK2):c.592+50A>T	rs17881298	0.00270
NM_000059.4(BRCA2):c.6100C>T (p.Arg2034Cys)	rs1799954	0.00268
NM_012275.3(IL36RN):c.338C>T (p.Ser113Leu)	rs144478519	0.00264
NM_000551.4(VHL):c.74C>T (p.Pro25Leu)	rs35460768	0.00261
NM_000038.6(APC):c.4360A>G (p.Lys1454Glu)	rs111866410	0.00255
NM_002016.2(FLG):c.9947C>G (p.Ser3316Ter)	rs149484917	0.00246
NM_004260.4(RECQL4):c.1390+3G>A	rs148912524	0.00246
NM_000059.4(BRCA2):c.4241C>T (p.Thr1414Met)	rs70953664	0.00244
NM_002016.2(FLG):c.2476C>T (p.Arg826Ter)	rs115746363	0.00243
NM_000065.5(C6):c.2381+2T>C	rs76202909	0.00242
NM_005918.4(MDH2):c.982A>C (p.Lys328Gln)	rs144919730	0.00242
NM_000257.4(MYH7):c.3853+7C>T	rs45467397	0.00239
NM_001321739.2(M1AP):c.676dup (p.Trp226fs)	rs144217347	0.00238
NM_000552.5(VWF):c.4751A>G (p.Tyr1584Cys)	rs1800386	0.00237
NM_002439.5(MSH3):c.2732T>G (p.Leu911Trp)	rs41545019	0.00233
NM_000153.4(GALC):c.334A>G (p.Thr112Ala)	rs147313927	0.00229
NM_022051.3(EGLN1):c.287C>T (p.Ala96Val)	rs113401862	0.00228
NM_004562.3(PRKN):c.823C>T (p.Arg275Trp)	rs34424986	0.00226
NM_002439.5(MSH3):c.1571A>C (p.Asn524Thr)	rs55724159	0.00220
NM_021870.3(FGG):c.323C>G (p.Ala108Gly)	rs148685782	0.00218
NM_001378452.1(ITPR1):c.5621T>G (p.Val1874Gly)	rs143093165	0.00213
NM_000400.4(ERCC2):c.1832-6C>T	rs1799789	0.00211
NM_000492.4(CFTR):c.2991G>C (p.Leu997Phe)	rs1800111	0.00208
NM_004456.5(EZH2):c.1852-6C>T	rs78589034	0.00208
NM_000065.5(C6):c.1138del (p.Gln380fs)	rs375762365	0.00206
NM_002485.5(NBN):c.643C>T (p.Arg215Trp)	rs34767364	0.00206
NM_198253.3(TERT):c.1574-7G>A	rs34846301	0.00206
NM_000346.4(SOX9):c.685+8G>A	rs117696751	0.00205
NM_000059.4(BRCA2):c.6937+565T>C	rs11571675	0.00195
NM_000157.4(GBA1):c.1226A>G (p.Asn409Ser)	rs76763715	0.00191
NM_000478.6(ALPL):c.571G>A (p.Glu191Lys)	rs121918007	0.00190
NM_001042492.3(NF1):c.7531G>C (p.Val2511Leu)	rs2230850	0.00189
NM_024649.5(BBS1):c.1169T>G (p.Met390Arg)	rs113624356	0.00188
NM_000155.4(GALT):c.563A>G (p.Gln188Arg)	rs75391579	0.00184
NM_000488.4(SERPINC1):c.439A>G (p.Thr147Ala)	rs2227606	0.00184
NM_006231.4(POLE):c.2561+6T>C	rs116231808	0.00179
NM_005609.4(PYGM):c.148C>T (p.Arg50Ter)	rs116987552	0.00178
NM_005918.4(MDH2):c.555+8C>T	rs200420048	0.00177
NM_000553.6(WRN):c.4216C>T (p.Arg1406Ter)	rs11574410	0.00173
NM_016327.3(UPB1):c.917-1G>A	rs143493067	0.00169
NM_001040108.2(MLH3):c.1799G>A (p.Arg600Gln)	rs28756984	0.00168
NM_000488.4(SERPINC1):c.89T>A (p.Val30Glu)	rs2227624	0.00167
NM_000290.4(PGAM2):c.233G>A (p.Trp78Ter)	rs10250779	0.00166
NM_024818.6(UBA5):c.1111G>A (p.Ala371Thr)	rs114925667	0.00164
NM_000096.4(CP):c.2684G>C (p.Gly895Ala)	rs139633388	0.00162
NM_001111.5(ADAR):c.577C>G (p.Pro193Ala)	rs145588689	0.00162
NM_001099274.3(TINF2):c.74G>C (p.Gly25Ala)	rs202093758	0.00161
NM_020937.4(FANCM):c.171G>C (p.Leu57Phe)	rs142007602	0.00161
NM_002693.3(POLG):c.1760C>T (p.Pro587Leu)	rs113994096	0.00160
NM_006361.6(HOXB13):c.251G>A (p.Gly84Glu)	rs138213197	0.00160
NM_000519.4(HBD):c.82G>T (p.Ala28Ser)	rs35152987	0.00158
NM_001354604.2(MITF):c.1273G>A (p.Glu425Lys)	rs149617956	0.00158
NM_000059.4(BRCA2):c.4187A>G (p.Gln1396Arg)	rs55969723	0.00156
NM_007055.4(POLR3A):c.1909+22G>A	rs191875469	0.00156
NM_001040108.2(MLH3):c.2167G>A (p.Val723Ile)	rs28756989	0.00153
NM_004771.4(MMP20):c.910G>A (p.Ala304Thr)	rs148818720	0.00153
NM_000059.4(BRCA2):c.8567A>C (p.Glu2856Ala)	rs11571747	0.00151
NM_002693.3(POLG):c.752C>T (p.Thr251Ile)	rs113994094	0.00151
NM_001983.4(ERCC1):c.796G>A (p.Ala266Thr)	rs3212977	0.00150
NM_006446.5(SLCO1B1):c.1738C>T (p.Arg580Ter)	rs71581941	0.00150
NM_000431.4(MVK):c.1129G>A (p.Val377Ile)	rs28934897	0.00149
NM_000553.6(WRN):c.355+4G>C	rs145764920	0.00149
NM_001360016.2(G6PD):c.968T>C (p.Leu323Pro)	rs76723693	0.00149
NM_000243.3(MEFV):c.2177T>C (p.Val726Ala)	rs28940579	0.00147
NM_000059.4(BRCA2):c.3515C>T (p.Ser1172Leu)	rs80358600	0.00146
NM_001256317.3(TMPRSS3):c.413C>A (p.Ala138Glu)	rs147231991	0.00146
NM_002485.5(NBN):c.511A>G (p.Ile171Val)	rs61754966	0.00145
NM_000107.3(DDB2):c.127+5T>G	rs199965459	0.00144
NM_005477.3(HCN4):c.458A>G (p.Glu153Gly)	rs560874115	0.00144
NM_024570.4(RNASEH2B):c.529G>A (p.Ala177Thr)	rs75184679	0.00141
NM_000368.5(TSC1):c.3103G>A (p.Gly1035Ser)	rs118203742	0.00139
NM_002528.7(NTHL1):c.244C>T (p.Gln82Ter)	rs150766139	0.00138
NM_000059.4(BRCA2):c.631+43G>T	rs276174869	0.00137
NM_001127701.1(SERPINA1):c.187C>T (p.Arg63Cys)	rs28931570	0.00137
NM_000406.3(GNRHR):c.785G>A (p.Arg262Gln)	rs104893837	0.00132
NM_000098.3(CPT2):c.338C>T (p.Ser113Leu)	rs74315294	0.00131
NM_002878.4(RAD51D):c.666A>G (p.Glu222=)	rs114012742	0.00131
NM_004655.4(AXIN2):c.1952C>T (p.Ser651Leu)	rs74006838	0.00128
NM_000104.4(CYP1B1):c.1103G>A (p.Arg368His)	rs79204362	0.00125
NM_002878.4(RAD51D):c.263+1588A>G	rs180869630	0.00123
NM_000051.4(ATM):c.6176C>T (p.Thr2059Ile)	rs144761622	0.00117
NM_002470.4(MYH3):c.-9+1G>A	rs557849165	0.00117
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_001080483.3(MYMK):c.271C>A (p.Pro91Thr)	rs137868995	0.00116
NM_001297.5(CNGB1):c.2957A>T (p.Asn986Ile)	rs201162411	0.00116
NM_014845.6(FIG4):c.122T>C (p.Ile41Thr)	rs121908287	0.00115
NM_000038.6(APC):c.423-17T>A	rs534684461	0.00114
NM_022051.3(EGLN1):c.311C>T (p.Ser104Phe)	rs551207815	0.00113
NM_032043.3(BRIP1):c.890A>G (p.Lys297Arg)	rs28997570	0.00113
NM_004260.4(RECQL4):c.3010C>T (p.Arg1004Trp)	rs36023964	0.00112
NM_007254.4(PNKP):c.1029+2T>C	rs199919568	0.00111
NM_003060.4(SLC22A5):c.1345T>G (p.Tyr449Asp)	rs11568514	0.00110
NM_000059.4(BRCA2):c.1040A>G (p.Gln347Arg)	rs55800493	0.00109
NM_003977.4(AIP):c.911G>A (p.Arg304Gln)	rs104894190	0.00109
NM_004130.4(GYG1):c.304G>C (p.Asp102His)	rs143137713	0.00109
NM_001041.4(SI):c.5234T>G (p.Phe1745Cys)	rs79717168	0.00108
NM_001256317.3(TMPRSS3):c.1273G>A (p.Ala425Thr)	rs56264519	0.00108
NM_007294.4(BRCA1):c.3083G>A (p.Arg1028His)	rs80357459	0.00106
NM_000383.4(AIRE):c.769C>T (p.Arg257Ter)	rs121434254	0.00105
NM_000787.4(DBH):c.339+2T>C	rs74853476	0.00105
NM_000057.4(BLM):c.11T>C (p.Val4Ala)	rs144706057	0.00104
NM_020937.4(FANCM):c.5101C>T (p.Gln1701Ter)	rs147021911	0.00104
NM_018480.7(TMEM126B):c.635G>T (p.Gly212Val)	rs141542003	0.00103
NM_024301.5(FKRP):c.826C>A (p.Leu276Ile)	rs28937900	0.00103
NM_003119.4(SPG7):c.1045G>A (p.Gly349Ser)	rs141659620	0.00102
NM_016366.3(CABP2):c.637+1G>T	rs149712664	0.00102
NM_022437.3(ABCG8):c.1083G>A (p.Trp361Ter)	rs137852987	0.00102
NM_000053.4(ATP7B):c.2605G>A (p.Gly869Arg)	rs191312027	0.00101
NM_005732.4(RAD50):c.3253A>G (p.Ile1085Val)	rs143189763	0.00100
NM_005236.3(ERCC4):c.1563C>G (p.Ser521Arg)	rs41552412	0.00099
NM_004628.5(XPC):c.1177C>T (p.Arg393Trp)	rs121965090	0.00098
NM_213599.3(ANO5):c.692G>T (p.Gly231Val)	rs137854523	0.00098
NM_000553.6(WRN):c.2500C>T (p.Arg834Cys)	rs3087425	0.00097
NM_000036.3(AMPD1):c.468G>T (p.Gln156His)	rs139582106	0.00096
NM_201253.3(CRB1):c.2506C>A (p.Pro836Thr)	rs116471343	0.00096
NM_000155.4(GALT):c.404C>T (p.Ser135Leu)	rs111033690	0.00094
NM_005546.4(ITK):c.1510A>T (p.Thr504Ser)	rs151046132	0.00090
NM_000203.5(IDUA):c.1205G>A (p.Trp402Ter)	rs121965019	0.00086
NM_000261.2(MYOC):c.1102C>T (p.Gln368Ter)	rs74315329	0.00086
NM_000535.7(PMS2):c.180C>G (p.Asp60Glu)	rs200313585	0.00085
NM_000488.4(SERPINC1):c.218C>T (p.Pro73Leu)	rs121909551	0.00084
NM_000782.5(CYP24A1):c.1226T>C (p.Leu409Ser)	rs6068812	0.00084
NM_003754.3(EIF3F):c.694T>G (p.Phe232Val)	rs141976414	0.00080
NM_000059.4(BRCA2):c.978C>A (p.Ser326Arg)	rs28897706	0.00079
NM_001099287.2(NIPAL4):c.341C>A (p.Ala114Asp)	rs199422217	0.00077
NM_002693.3(POLG):c.2243G>C (p.Trp748Ser)	rs113994097	0.00076
NM_000070.3(CAPN3):c.2257G>A (p.Asp753Asn)	rs146923842	0.00073
NM_000402.4(G6PD):c.934G>C (p.Asp312His)	rs137852318	0.00072
NM_001127178.3(PIGG):c.1515G>A (p.Trp505Ter)	rs150259543	0.00072
NM_000138.5(FBN1):c.8176C>T (p.Arg2726Trp)	rs61746008	0.00070
NM_001243279.3(ACSF3):c.1075G>A (p.Glu359Lys)	rs150487794	0.00070
NM_023936.2(MRPS34):c.94C>T (p.Gln32Ter)	rs763672163	0.00070
NM_001723.7(DST):c.3436A>G (p.Met1146Val)	rs148413592	0.00066
NM_018127.7(ELAC2):c.2342G>A (p.Arg781His)	rs119484086	0.00064
NM_000264.5(PTCH1):c.37C>G (p.Arg13Gly)	rs779791579	0.00063
NM_004304.5(ALK):c.932G>A (p.Arg311His)	rs150966028	0.00063
NM_015102.5(NPHP4):c.2965G>A (p.Glu989Lys)	rs116606479	0.00062
NM_000159.4(GCDH):c.1261G>A (p.Ala421Thr)	rs151201155	0.00061
NM_006767.4(LZTR1):c.1723G>A (p.Asp575Asn)	rs139368531	0.00061
NM_024675.4(PALB2):c.2996+17T>C	rs180177128	0.00060
NM_001211.6(BUB1B):c.180-3C>T	rs200483866	0.00059
NM_022132.5(MCCC2):c.1015G>A (p.Val339Met)	rs150591260	0.00059
NM_000264.5(PTCH1):c.3487G>A (p.Gly1163Ser)	rs113663584	0.00058
NM_002485.5(NBN):c.1777C>G (p.Pro593Ala)	rs146989944	0.00058
NM_148897.3(SDR9C7):c.551A>G (p.Asp184Gly)	rs138435128	0.00058
NM_004369.4(COL6A3):c.7447A>G (p.Lys2483Glu)	rs139260335	0.00057
NM_130837.3(OPA1):c.1311A>G (p.Ile437Met)	rs143319805	0.00057
NM_000057.4(BLM):c.968A>G (p.Lys323Arg)	rs146504061	0.00056
NM_000251.3(MSH2):c.1168C>T (p.Leu390Phe)	rs17224367	0.00056
NM_004004.6(GJB2):c.-22-2A>C	rs201895089	0.00056
NM_005448.2(BMP15):c.202C>T (p.Arg68Trp)	rs104894763	0.00056
NM_001184.4(ATR):c.3424A>G (p.Ser1142Gly)	rs149008479	0.00055
NM_031206.7(LAS1L):c.5C>T (p.Ser2Leu)	rs148048579	0.00055
NM_001039141.3(TRIOBP):c.5014G>T (p.Gly1672Ter)	rs200045032	0.00054
NM_001361.5(DHODH):c.403C>T (p.Arg135Cys)	rs201230446	0.00054
NM_002016.2(FLG):c.6109C>T (p.Arg2037Ter)	rs200002200	0.00054
NM_014625.4(NPHS2):c.413G>A (p.Arg138Gln)	rs74315342	0.00054
NM_021971.4(GMPPB):c.79G>C (p.Asp27His)	rs142336618	0.00054
NM_000275.3(OCA2):c.1255C>T (p.Arg419Trp)	rs143218168	0.00052
NM_001145026.2(PTPRQ):c.1359+2T>C	rs377572771	0.00052
NM_017646.6(TRIT1):c.979C>T (p.Arg327Ter)	rs144042123	0.00052
NM_000372.5(TYR):c.1037-7T>A	rs61754381	0.00051
NM_000541.5(SAG):c.182-2A>G	rs201086679	0.00051
NM_000038.6(APC):c.3739G>A (p.Ala1247Thr)	rs148223181	0.00048
NM_000059.4(BRCA2):c.7544C>T (p.Thr2515Ile)	rs28897744	0.00048
NM_000277.3(PAH):c.734T>C (p.Val245Ala)	rs76212747	0.00048
NM_000350.3(ABCA4):c.6089G>A (p.Arg2030Gln)	rs61750641	0.00048
NM_001040108.2(MLH3):c.1637G>T (p.Arg546Ile)	rs55725216	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_000521.4(HEXB):c.1250C>T (p.Pro417Leu)	rs28942073	0.00047
NM_000017.4(ACADS):c.988C>T (p.Arg330Cys)	rs140853839	0.00046
NM_025114.4(CEP290):c.4813-2A>G	rs369523378	0.00046
NM_000402.4(G6PD):c.632A>T (p.Asp211Val)	rs5030872	0.00045
NM_000222.3(KIT):c.200C>G (p.Thr67Ser)	rs144933028	0.00043
NM_000303.3(PMM2):c.470T>C (p.Phe157Ser)	rs190521996	0.00042
NM_000368.5(TSC1):c.1163T>C (p.Leu388Pro)	rs377598226	0.00041
NM_000535.7(PMS2):c.936G>A (p.Met312Ile)	rs139194813	0.00041
NM_001126108.2(SLC12A3):c.2221G>A (p.Gly741Arg)	rs138977195	0.00041
NM_001282225.2(ADA2):c.506G>A (p.Arg169Gln)	rs77563738	0.00041
NM_001298.3(CNGA3):c.1279C>T (p.Arg427Cys)	rs141386891	0.00040
NM_000091.5(COL4A3):c.4981C>T (p.Arg1661Cys)	rs201697532	0.00039
NM_001015880.2(PAPSS2):c.809G>A (p.Gly270Asp)	rs138943074	0.00038
NM_014249.4(NR2E3):c.119-2A>C	rs2723341	0.00038
NM_000249.4(MLH1):c.977T>C (p.Val326Ala)	rs63751049	0.00037
NM_001005498.4(RHBDF2):c.704G>A (p.Arg235Gln)	rs145136848	0.00037
NM_000277.3(PAH):c.1139C>T (p.Thr380Met)	rs62642937	0.00036
NM_000540.3(RYR1):c.1453A>G (p.Met485Val)	rs147723844	0.00036
NM_002016.2(FLG):c.3321del (p.Gly1109fs)	rs200519781	0.00036
NM_024426.6(WT1):c.216G>T (p.Gln72His)	rs5030135	0.00036
NM_001370658.1(BTD):c.451G>A (p.Ala151Thr)	rs13073139	0.00035
NM_000059.4(BRCA2):c.322A>C (p.Asn108His)	rs80358567	0.00034
NM_000492.4(CFTR):c.1327G>T (p.Asp443Tyr)	rs147422190	0.00034
NM_012452.3(TNFRSF13B):c.260T>A (p.Ile87Asn)	rs72553877	0.00034
NM_014444.5(TUBGCP4):c.1746G>T (p.Leu582=)	rs200092283	0.00034
NM_015506.3(MMACHC):c.440G>C (p.Gly147Ala)	rs140522266	0.00034
NM_000492.4(CFTR):c.3454G>C (p.Asp1152His)	rs75541969	0.00033
NM_001001548.3(CD36):c.268C>T (p.Pro90Ser)	rs75326924	0.00033
NM_001127701.1(SERPINA1):c.839A>T (p.Asp280Val)	rs121912714	0.00033
NM_002693.3(POLG):c.2890C>T (p.Arg964Cys)	rs201477273	0.00033
NM_000091.5(COL4A3):c.3829G>A (p.Gly1277Ser)	rs190598500	0.00032
NM_000098.3(CPT2):c.680C>T (p.Pro227Leu)	rs74315298	0.00032
NM_014249.4(NR2E3):c.932G>A (p.Arg311Gln)	rs28937873	0.00032
NM_020937.4(FANCM):c.2267G>A (p.Arg756His)	rs142763060	0.00032
NM_000038.6(APC):c.7490C>T (p.Ser2497Leu)	rs141010008	0.00031
NM_000055.4(BCHE):c.435_436insG (p.Phe146fs)	rs774072493	0.00031
NM_004655.4(AXIN2):c.1685C>T (p.Pro562Leu)	rs149764887	0.00031
NM_007294.4(BRCA1):c.3708T>G (p.Asn1236Lys)	rs28897687	0.00031
NM_153747.2(PIGC):c.61C>T (p.Arg21Ter)	rs115209243	0.00031
NM_000122.2(ERCC3):c.325C>T (p.Arg109Ter)	rs34295337	0.00030
NM_000179.3(MSH6):c.4002-10T>A	rs545466048	0.00030
NM_000277.3(PAH):c.194T>C (p.Ile65Thr)	rs75193786	0.00030
NM_078470.6(COX15):c.452C>G (p.Ser151Ter)	rs149718203	0.00030
NM_001042492.3(NF1):c.8041A>G (p.Ile2681Val)	rs146315101	0.00029
NM_014874.4(MFN2):c.2119C>T (p.Arg707Trp)	rs119103267	0.00029
NM_145038.5(DRC1):c.352C>T (p.Gln118Ter)	rs142371860	0.00029
NM_000384.3(APOB):c.10580G>A (p.Arg3527Gln)	rs5742904	0.00028
NM_000402.4(G6PD):c.653C>T (p.Ser218Phe)	rs5030868	0.00028
NM_012123.4(MTO1):c.1430G>A (p.Arg477His)	rs201544686	0.00028
NM_018082.6(POLR3B):c.1568T>A (p.Val523Glu)	rs138249161	0.00028
NM_000049.4(ASPA):c.854A>C (p.Glu285Ala)	rs28940279	0.00027
NM_000137.4(FAH):c.1062+5G>A	rs80338901	0.00027
NM_147191.1(MMP21):c.1203G>A (p.Trp401Ter)	rs137955225	0.00027
NM_000535.7(PMS2):c.1004A>G (p.Asn335Ser)	rs200513014	0.00026
NM_001377.3(DYNC2H1):c.9044A>G (p.Asp3015Gly)	rs137853027	0.00026
NM_007194.4(CHEK2):c.1283C>T (p.Ser428Phe)	rs137853011	0.00026
NM_144991.3(TSPEAR):c.589C>T (p.Arg197Ter)	rs139455627	0.00026
NM_002693.3(POLG):c.2246T>C (p.Phe749Ser)	rs202037973	0.00025
NM_015340.4(LARS2):c.1565C>A (p.Thr522Asn)	rs199589947	0.00025
NM_016146.6(TRAPPC4):c.454+3A>G	rs375776811	0.00025
NM_000059.4(BRCA2):c.9292T>C (p.Tyr3098His)	rs41293521	0.00024
NM_007294.4(BRCA1):c.3929C>A (p.Thr1310Lys)	rs80357257	0.00024
NM_017909.4(RMND1):c.713A>G (p.Asn238Ser)	rs144972972	0.00024
NM_002528.7(NTHL1):c.835C>T (p.Gln279Ter)	rs146347092	0.00023
NM_014270.5(SLC7A9):c.368C>T (p.Thr123Met)	rs79987078	0.00023
NM_000104.4(CYP1B1):c.171G>A (p.Trp57Ter)	rs72549387	0.00022
NM_000251.3(MSH2):c.1787A>G (p.Asn596Ser)	rs41295288	0.00022
NM_001110556.2(FLNA):c.1229-8C>T	rs376190976	0.00022
NM_015450.3(POT1):c.1228G>C (p.Asp410His)	rs79314063	0.00022
NM_020975.6(RET):c.2410G>A (p.Val804Met)	rs79658334	0.00022
NM_000059.4(BRCA2):c.1123C>T (p.Pro375Ser)	rs80358408	0.00021
NM_000271.5(NPC1):c.3019C>G (p.Pro1007Ala)	rs80358257	0.00021
NM_000520.6(HEXA):c.1073+1G>A	rs76173977	0.00021
NM_001145860.2(POP1):c.1537C>T (p.Arg513Ter)	rs149102421	0.00021
NM_003085.5(SNCB):c.368C>A (p.Pro123His)	rs104893937	0.00021
NM_004360.5(CDH1):c.670C>T (p.Arg224Cys)	rs200310662	0.00021
NM_021922.3(FANCE):c.65T>C (p.Leu22Pro)	rs950301098	0.00021
NM_000023.4(SGCA):c.739G>A (p.Val247Met)	rs143570936	0.00019
NM_000059.4(BRCA2):c.1385A>G (p.Glu462Gly)	rs56403624	0.00019
NM_000059.4(BRCA2):c.9770A>G (p.Lys3257Arg)	rs55847618	0.00019
NM_000083.3(CLCN1):c.180+3A>T	rs202217420	0.00019
NM_000443.4(ABCB4):c.2784-12T>C	rs201498350	0.00019
NM_000546.6(TP53):c.1079G>C (p.Gly360Ala)	rs35993958	0.00019
NM_001083614.2(EARS2):c.322C>T (p.Arg108Trp)	rs376103091	0.00019
NM_000443.4(ABCB4):c.959C>T (p.Ser320Phe)	rs72552778	0.00018
NM_000535.7(PMS2):c.137G>T (p.Ser46Ile)	rs121434629	0.00018
NM_002905.5(RDH5):c.712G>T (p.Gly238Trp)	rs62638191	0.00018
NM_003060.4(SLC22A5):c.695C>T (p.Thr232Met)	rs114269482	0.00018
NM_007294.4(BRCA1):c.5005G>T (p.Ala1669Ser)	rs80357087	0.00018
NM_014270.5(SLC7A9):c.313G>A (p.Gly105Arg)	rs121908480	0.00018
NM_000038.6(APC):c.8462A>G (p.Asp2821Gly)	rs780049836	0.00017
NM_000057.4(BLM):c.1642C>T (p.Gln548Ter)	rs200389141	0.00017
NM_000303.3(PMM2):c.368G>A (p.Arg123Gln)	rs141498002	0.00017
NM_000414.4(HSD17B4):c.46G>A (p.Gly16Ser)	rs137853096	0.00017
NM_000441.2(SLC26A4):c.349C>T (p.Leu117Phe)	rs145254330	0.00017
NM_012275.3(IL36RN):c.227C>T (p.Pro76Leu)	rs139497891	0.00017
NM_016111.4(TELO2):c.1100G>T (p.Cys367Phe)	rs202020308	0.00017
NM_001206744.2(TPO):c.1978C>G (p.Gln660Glu)	rs121908088	0.00016
NM_001282225.2(ADA2):c.973-2A>G	rs139750129	0.00016
NM_002491.3(NDUFB3):c.208G>T (p.Gly70Ter)	rs200800978	0.00016
NM_004562.3(PRKN):c.719C>T (p.Thr240Met)	rs137853054	0.00016
NM_012452.3(TNFRSF13B):c.311G>A (p.Cys104Tyr)	rs72553879	0.00016
NM_014625.4(NPHS2):c.790G>C (p.Glu264Gln)	rs369697947	0.00016
NM_000478.6(ALPL):c.526G>A (p.Ala176Thr)	rs121918019	0.00015
NM_001370658.1(BTD):c.38G>T (p.Cys13Phe)	rs141131444	0.00015
NM_001385.3(DPYS):c.1137C>A (p.Ser379Arg)	rs201258823	0.00015
NM_004004.6(GJB2):c.617A>G (p.Asn206Ser)	rs111033294	0.00015
NM_014049.5(ACAD9):c.1552C>T (p.Arg518Cys)	rs150283105	0.00015
NM_176787.5(PIGN):c.2679C>G (p.Ser893Arg)	rs199573774	0.00015
NM_000018.4(ACADVL):c.1700G>A (p.Arg567Gln)	rs398123084	0.00014
NM_000059.4(BRCA2):c.4061C>T (p.Thr1354Met)	rs80358656	0.00014
NM_000540.3(RYR1):c.2275A>G (p.Asn759Asp)	rs147320363	0.00014
NM_000546.6(TP53):c.869G>A (p.Arg290His)	rs55819519	0.00014
NM_001126108.2(SLC12A3):c.1928C>T (p.Pro643Leu)	rs140012781	0.00014
NM_001360.3(DHCR7):c.907G>A (p.Gly303Arg)	rs142808899	0.00014
NM_007294.4(BRCA1):c.3302G>A (p.Ser1101Asn)	rs41293447	0.00014
NM_017777.4(MKS1):c.417G>A (p.Glu139=)	rs386834048	0.00014
NM_020320.5(RARS2):c.1026G>A (p.Met342Ile)	rs34647222	0.00014
NM_213599.3(ANO5):c.172C>T (p.Arg58Trp)	rs201725369	0.00014
NM_000112.4(SLC26A2):c.1957T>A (p.Cys653Ser)	rs104893924	0.00013
NM_000135.4(FANCA):c.2852G>A (p.Arg951Gln)	rs755922289	0.00013
NM_000179.3(MSH6):c.59C>T (p.Ala20Val)	rs63750664	0.00013
NM_000492.4(CFTR):c.617T>G (p.Leu206Trp)	rs121908752	0.00013
NM_000784.4(CYP27A1):c.1016C>T (p.Thr339Met)	rs121908102	0.00013
NM_001134831.2(AHI1):c.3196C>T (p.Arg1066Ter)	rs780163791	0.00013
NM_024596.5(MCPH1):c.2145G>A (p.Trp715Ter)	rs201599657	0.00013
NM_030653.4(DDX11):c.1403dup (p.Ser469fs)	rs778363138	0.00013
NM_004260.4(RECQL4):c.2464-1G>C	rs398124117	0.00012
NM_006345.4(SLC30A9):c.40del (p.Ser14fs)	rs767078182	0.00012
NM_000492.3(CFTR):c.3718-2477C>T	rs75039782	0.00011
NM_000492.4(CFTR):c.772A>G (p.Arg258Gly)	rs191456345	0.00011
NM_000540.3(RYR1):c.1840C>T (p.Arg614Cys)	rs118192172	0.00011
NM_000548.5(TSC2):c.4579T>C (p.Phe1527Leu)	rs45514391	0.00011
NM_001079866.2(BCS1L):c.550C>T (p.Arg184Cys)	rs121908578	0.00011
NM_001165963.4(SCN1A):c.379C>G (p.His127Asp)	rs148442069	0.00011
NM_017866.6(TMEM70):c.317-2A>G	rs183973249	0.00011
NM_020549.5(CHAT):c.406G>A (p.Val136Met)	rs201479289	0.00011
NM_024301.5(FKRP):c.1073C>T (p.Pro358Leu)	rs143031195	0.00011
NM_024753.5(TTC21B):c.626C>T (p.Pro209Leu)	rs140511594	0.00011
NM_032043.3(BRIP1):c.3444C>A (p.Asp1148Glu)	rs28997573	0.00011
NM_144988.4(ALG14):c.220G>A (p.Asp74Asn)	rs769114543	0.00011
NM_152783.5(D2HGDH):c.685-2A>G	rs753528947	0.00011
NM_000035.4(ALDOB):c.1013C>T (p.Ala338Val)	rs77718928	0.00010
NM_000243.3(MEFV):c.2282G>A (p.Arg761His)	rs104895097	0.00010
NM_000518.5(HBB):c.93-21G>A	rs35004220	0.00010
NM_004484.4(GPC3):c.1232G>T (p.Ser411Ile)	rs139206747	0.00010
NM_022787.4(NMNAT1):c.293T>G (p.Val98Gly)	rs771336246	0.00010
NM_152443.3(RDH12):c.701G>A (p.Arg234His)	rs750636662	0.00010
NM_000070.3(CAPN3):c.1303G>A (p.Glu435Lys)	rs149914792	0.00009
NM_000179.3(MSH6):c.3727A>T (p.Thr1243Ser)	rs147453999	0.00009
NM_000256.3(MYBPC3):c.1504C>T (p.Arg502Trp)	rs375882485	0.00009
NM_000492.4(CFTR):c.1000C>T (p.Arg334Trp)	rs121909011	0.00009
NM_000551.4(VHL):c.598C>T (p.Arg200Trp)	rs28940298	0.00009
NM_000784.4(CYP27A1):c.1184+1G>A	rs587778777	0.00009
NM_001256317.3(TMPRSS3):c.316C>T (p.Arg106Cys)	rs139805921	0.00009
NM_001458.5(FLNC):c.7289C>T (p.Ala2430Val)	rs200516164	0.00009
NM_002769.5(PRSS1):c.47C>T (p.Ala16Val)	rs202003805	0.00009
NM_002905.5(RDH5):c.500G>A (p.Arg167His)	rs199877211	0.00009
NM_003742.4(ABCB11):c.1460G>A (p.Arg487His)	rs188824058	0.00009
NM_004655.4(AXIN2):c.2140C>T (p.Arg714Trp)	rs148765149	0.00009
NM_007194.4(CHEK2):c.319+2T>A	rs587782401	0.00009
NM_007194.4(CHEK2):c.349A>G (p.Arg117Gly)	rs28909982	0.00009
NM_014845.6(FIG4):c.1141C>T (p.Arg381Ter)	rs377357931	0.00009
NM_018451.5(CPAP):c.1586C>G (p.Ser529Ter)	rs202058504	0.00009
NM_020937.4(FANCM):c.1972C>T (p.Arg658Ter)	rs368728266	0.00009
NM_030777.4(SLC2A10):c.394C>T (p.Arg132Trp)	rs121908173	0.00009
NM_198253.3(TERT):c.2320C>T (p.Arg774Ter)	rs770066110	0.00009
NM_000396.4(CTSK):c.953G>A (p.Cys318Tyr)	rs762780994	0.00008
NM_001048174.2(MUTYH):c.901G>A (p.Val301Met)	rs147718169	0.00008
NM_001126108.2(SLC12A3):c.1664C>T (p.Ser555Leu)	rs148038173	0.00008
NM_004004.6(GJB2):c.283G>A (p.Val95Met)	rs111033299	0.00008
NM_000038.6(APC):c.7399C>A (p.Pro2467Thr)	rs372305287	0.00007
NM_000059.4(BRCA2):c.9501+3A>T	rs61757642	0.00007
NM_000136.3(FANCC):c.1642C>T (p.Arg548Ter)	rs104886457	0.00007
NM_000303.3(PMM2):c.255+2T>C	rs139716296	0.00007
NM_000492.4(CFTR):c.571T>G (p.Phe191Val)	rs141482808	0.00007
NM_000518.5(HBB):c.92+6T>C	rs35724775	0.00007
NM_000520.6(HEXA):c.459+5G>A	rs762060470	0.00007
NM_001164508.2(NEB):c.24114+1G>A	rs755239192	0.00007
NM_001360.3(DHCR7):c.1228G>A (p.Gly410Ser)	rs80338862	0.00007
NM_001849.4(COL6A2):c.1970-9G>A	rs747900252	0.00007
NM_005861.4(STUB1):c.44C>T (p.Ala15Val)	rs770617507	0.00007
NM_006059.4(LAMC3):c.3871C>T (p.Arg1291Ter)	rs201793200	0.00007
NM_007294.4(BRCA1):c.1865C>T (p.Ala622Val)	rs56039126	0.00007
NM_007294.4(BRCA1):c.4132G>A (p.Val1378Ile)	rs28897690	0.00007
NM_015202.5(KATNIP):c.49C>T (p.Arg17Ter)	rs142375551	0.00007
NM_016035.5(COQ4):c.202G>C (p.Asp68His)	rs758522459	0.00007
NM_174936.4(PCSK9):c.94G>A (p.Glu32Lys)	rs564427867	0.00007
NM_000038.6(APC):c.7645C>T (p.Arg2549Cys)	rs199539353	0.00006
NM_000085.5(CLCNKB):c.508G>A (p.Val170Met)	rs202064075	0.00006
NM_000094.4(COL7A1):c.7344G>A (p.Val2448=)	rs201728948	0.00006
NM_000098.3(CPT2):c.359A>G (p.Tyr120Cys)	rs121918528	0.00006
NM_000102.4(CYP17A1):c.286C>T (p.Arg96Trp)	rs104894138	0.00006
NM_000166.6(GJB1):c.37G>A (p.Val13Met)	rs104894820	0.00006
NM_000256.3(MYBPC3):c.1624G>C (p.Glu542Gln)	rs121909374	0.00006
NM_000271.5(NPC1):c.2974G>C (p.Gly992Arg)	rs80358254	0.00006
NM_000372.5(TYR):c.1A>G (p.Met1Val)	rs28940881	0.00006
NM_000406.3(GNRHR):c.30T>A (p.Asn10Lys)	rs104893843	0.00006
NM_000443.4(ABCB4):c.140G>A (p.Arg47Gln)	rs372685632	0.00006
NM_001267550.2(TTN):c.55139T>C (p.Ile18380Thr)	rs72646819	0.00006
NM_001361.5(DHODH):c.1036C>T (p.Arg346Trp)	rs201947120	0.00006
NM_002354.3(EPCAM):c.106G>A (p.Val36Ile)	rs771315207	0.00006
NM_002693.3(POLG):c.3287G>A (p.Arg1096His)	rs368435864	0.00006
NM_006623.4(PHGDH):c.1468G>A (p.Val490Met)	rs121907987	0.00006
NM_007194.4(CHEK2):c.1556G>T (p.Arg519Leu)	rs587780180	0.00006
NM_007294.4(BRCA1):c.2428A>T (p.Asn810Tyr)	rs28897682	0.00006
NM_007375.4(TARDBP):c.800A>G (p.Asn267Ser)	rs80356718	0.00006
NM_019616.4(F7):c.64+5G>A	rs769455161	0.00006
NM_022124.6(CDH23):c.6050-15G>A	rs373838930	0.00006
NM_138694.4(PKHD1):c.4870C>T (p.Arg1624Trp)	rs200391019	0.00006
NM_177438.3(DICER1):c.77C>T (p.Pro26Leu)	rs201358110	0.00006
NM_198506.5(LRIT3):c.1318C>T (p.Arg440Ter)	rs397509378	0.00006
NM_000038.6(APC):c.4372C>T (p.Pro1458Ser)	rs143796828	0.00005
NM_000059.4(BRCA2):c.8525G>A (p.Arg2842His)	rs80359105	0.00005
NM_000070.3(CAPN3):c.1250C>T (p.Thr417Met)	rs200646556	0.00005
NM_000070.3(CAPN3):c.245C>T (p.Pro82Leu)	rs886042478	0.00005
NM_000094.4(COL7A1):c.7864C>T (p.Arg2622Trp)	rs139318843	0.00005
NM_000130.5(F5):c.3088C>T (p.Arg1030Ter)	rs780253174	0.00005
NM_000183.3(HADHB):c.182G>A (p.Arg61His)	rs121913132	0.00005
NM_000187.4(HGD):c.158G>A (p.Arg53Gln)	rs200808744	0.00005
NM_000268.4(NF2):c.947T>G (p.Leu316Trp)	rs750633919	0.00005
NM_000492.4(CFTR):c.3409A>G (p.Met1137Val)	rs397508553	0.00005
NM_000520.6(HEXA):c.533G>A (p.Arg178His)	rs28941770	0.00005
NM_001018115.3(FANCD2):c.990-1G>A	rs112832879	0.00005
NM_001166114.2(PNPLA6):c.4045C>T (p.Arg1349Trp)	rs374434303	0.00005
NM_001174089.2(SLC4A11):c.2480T>C (p.Leu827Pro)	rs121909394	0.00005
NM_004646.4(NPHS1):c.2928G>T (p.Arg976Ser)	rs138656762	0.00005
NM_013296.5(GPSM2):c.1062+1G>T	rs777695770	0.00005
NM_014285.7(EXOSC2):c.89G>T (p.Gly30Val)	rs537467155	0.00005
NM_019098.5(CNGB3):c.467C>T (p.Ser156Phe)	rs139207764	0.00005
NM_080860.4(RSPH1):c.727+5G>A	rs200382776	0.00005
NM_153033.5(KCTD7):c.190A>G (p.Thr64Ala)	rs201296399	0.00005
NM_176787.5(PIGN):c.932T>G (p.Leu311Trp)	rs746882521	0.00005
NM_000017.4(ACADS):c.1138C>T (p.Arg380Trp)	rs28940875	0.00004
NM_000038.6(APC):c.3436C>T (p.Arg1146Cys)	rs202168805	0.00004
NM_000038.6(APC):c.883A>G (p.Ser295Gly)	rs587780611	0.00004
NM_000083.3(CLCN1):c.2551G>A (p.Val851Met)	rs749205522	0.00004
NM_000092.5(COL4A4):c.2320G>C (p.Gly774Arg)	rs569681869	0.00004
NM_000152.5(GAA):c.1548G>A (p.Trp516Ter)	rs140826989	0.00004
NM_000179.3(MSH6):c.107C>T (p.Ala36Val)	rs61756469	0.00004
NM_000204.5(CFI):c.559C>T (p.Arg187Ter)	rs368615806	0.00004
NM_000243.3(MEFV):c.1957C>T (p.Arg653Cys)	rs375716505	0.00004
NM_000256.3(MYBPC3):c.1484G>A (p.Arg495Gln)	rs200411226	0.00004
NM_000275.3(OCA2):c.2360C>T (p.Ala787Val)	rs200457227	0.00004
NM_000359.3(TGM1):c.425G>A (p.Arg142His)	rs121918718	0.00004
NM_000419.5(ITGA2B):c.3060+2T>C	rs74664206	0.00004
NM_000492.4(CFTR):c.2834C>T (p.Ser945Leu)	rs397508442	0.00004
NM_001048174.2(MUTYH):c.241C>T (p.Arg81Trp)	rs765123255	0.00004
NM_001171.6(ABCC6):c.4069C>T (p.Arg1357Trp)	rs63750428	0.00004
NM_001253852.3(AP4B1):c.1557T>A (p.Tyr519Ter)	rs529495094	0.00004
NM_001256317.3(TMPRSS3):c.346G>A (p.Val116Met)	rs200090033	0.00004
NM_001723.7(DST):c.3370C>T (p.Gln1124Ter)	rs201045495	0.00004
NM_004629.2(FANCG):c.366G>C (p.Trp122Cys)	rs546023787	0.00004
NM_004722.4(AP4M1):c.1012C>T (p.Arg338Ter)	rs146262009	0.00004
NM_007294.4(BRCA1):c.1616C>T (p.Thr539Met)	rs80357374	0.00004
NM_012123.4(MTO1):c.1450C>T (p.Arg484Trp)	rs748152539	0.00004
NM_015450.3(POT1):c.1087C>T (p.Arg363Ter)	rs756198077	0.00004
NM_016373.4(WWOX):c.689A>C (p.Gln230Pro)	rs199628364	0.00004
NM_017613.4(DONSON):c.1047-9A>G	rs779149681	0.00004
NM_021922.3(FANCE):c.1111C>T (p.Arg371Trp)	rs775076977	0.00004
NM_024596.5(MCPH1):c.2221C>T (p.Arg741Ter)	rs374596700	0.00004
NM_024596.5(MCPH1):c.322-1G>C	rs201721894	0.00004
NM_153682.3(PIGP):c.2T>C (p.Met1Thr)	rs768633670	0.00004
NM_153704.6(TMEM67):c.1319G>A (p.Arg440Gln)	rs386834182	0.00004
NC_000011.10:g.5227172G>A	rs63751208	0.00003
NM_000016.6(ACADM):c.928G>A (p.Gly310Arg)	rs747268471	0.00003
NM_000051.4(ATM):c.2250G>A (p.Lys750=)	rs1137887	0.00003
NM_000059.4(BRCA2):c.8918G>A (p.Arg2973His)	rs80359143	0.00003
NM_000059.4(BRCA2):c.9458G>C (p.Gly3153Ala)	rs80359220	0.00003
NM_000079.4(CHRNA1):c.235-323G>A	rs750955953	0.00003
NM_000122.2(ERCC3):c.1115_1120dup (p.Trp374Ter)	rs778865255	0.00003
NM_000122.2(ERCC3):c.1757_1758del (p.Gln586fs)	rs774261851	0.00003
NM_000123.4(ERCC5):c.1096C>T (p.Arg366Ter)	rs966111552	0.00003
NM_000128.4(F11):c.1489C>T (p.Arg497Ter)	rs375422404	0.00003
NM_000135.4(FANCA):c.190-2A>T	rs183350210	0.00003
NM_000162.5(GCK):c.106C>T (p.Arg36Trp)	rs762263694	0.00003
NM_000256.3(MYBPC3):c.1624+4A>T	rs397515916	0.00003
NM_000257.4(MYH7):c.2389G>A (p.Ala797Thr)	rs3218716	0.00003
NM_000283.4(PDE6B):c.1107+3A>G	rs370898371	0.00003
NM_000286.3(PEX12):c.126+1G>T	rs144259891	0.00003
NM_000350.3(ABCA4):c.4328G>A (p.Arg1443His)	rs61750142	0.00003
NM_000352.6(ABCC8):c.2797C>T (p.Arg933Ter)	rs570388861	0.00003
NM_000492.4(CFTR):c.1040G>A (p.Arg347His)	rs77932196	0.00003
NM_000492.4(CFTR):c.14C>T (p.Pro5Leu)	rs193922501	0.00003
NM_000492.4(CFTR):c.2813T>G (p.Val938Gly)	rs193922511	0.00003
NM_000492.4(CFTR):c.3208C>T (p.Arg1070Trp)	rs202179988	0.00003
NM_000527.5(LDLR):c.1432G>A (p.Gly478Arg)	rs144614838	0.00003
NM_000527.5(LDLR):c.862G>A (p.Glu288Lys)	rs368657165	0.00003
NM_000535.7(PMS2):c.2113G>A (p.Glu705Lys)	rs267608161	0.00003
NM_001046.3(SLC12A2):c.652A>G (p.Met218Val)	rs761992472	0.00003
NM_001082971.2(DDC):c.1040G>A (p.Arg347Gln)	rs201951824	0.00003
NM_001163435.3(TBCK):c.1363A>T (p.Lys455Ter)	rs376699648	0.00003
NM_001199107.2(TBC1D24):c.724C>T (p.Arg242Cys)	rs398122965	0.00003
NM_001199397.3(NEK1):c.1226G>A (p.Trp409Ter)	rs985064686	0.00003
NM_001278716.2(FBXL4):c.1288C>T (p.Arg430Ter)	rs758395213	0.00003
NM_001297.5(CNGB1):c.2893-7G>A	rs749199721	0.00003
NM_001298.3(CNGA3):c.1306C>T (p.Arg436Trp)	rs104893621	0.00003
NM_001384474.1(LOXHD1):c.2497C>T (p.Arg833Ter)	rs188119157	0.00003
NM_001458.5(FLNC):c.4871C>T (p.Ser1624Leu)	rs879255639	0.00003
NM_002225.5(IVD):c.1175G>A (p.Arg392His)	rs982218848	0.00003
NM_002427.4(MMP13):c.325C>T (p.Arg109Ter)	rs369083541	0.00003
NM_002471.4(MYH6):c.635C>T (p.Ala212Val)	rs780456381	0.00003
NM_002878.4(RAD51D):c.694C>T (p.Arg232Ter)	rs587780104	0.00003
NM_003738.5(PTCH2):c.1568C>T (p.Ala523Val)	rs200216295	0.00003
NM_005045.4(RELN):c.5455G>C (p.Glu1819Gln)	rs201017713	0.00003
NM_005670.4(EPM2A):c.721C>T (p.Arg241Ter)	rs104893950	0.00003
NM_005912.3(MC4R):c.449C>T (p.Thr150Ile)	rs766665118	0.00003
NM_006005.3(WFS1):c.2206G>A (p.Gly736Ser)	rs71532864	0.00003
NM_007294.4(BRCA1):c.181T>G (p.Cys61Gly)	rs28897672	0.00003
NM_007294.4(BRCA1):c.398G>A (p.Arg133His)	rs80357357	0.00003
NM_018255.4(ELP2):c.1384C>T (p.Arg462Trp)	rs767713084	0.00003
NM_020461.4(TUBGCP6):c.2066-6A>G	rs368765755	0.00003
NM_024079.5(ALG8):c.535C>T (p.Arg179Ter)	rs762811727	0.00003
NM_024422.6(DSC2):c.663T>A (p.Tyr221Ter)	rs145476705	0.00003
NM_025132.4(WDR19):c.2129T>C (p.Leu710Ser)	rs387906980	0.00003
NM_058216.3(RAD51C):c.1102C>T (p.Arg368Trp)	rs587780253	0.00003
NM_138413.4(HOGA1):c.812G>A (p.Arg271His)	rs750974539	0.00003
NM_138694.4(PKHD1):c.9107T>G (p.Val3036Gly)	rs893497345	0.00003
NM_144499.3(GNAT1):c.359C>A (p.Ser120Ter)	rs778497200	0.00003
NM_152383.5(DIS3L2):c.1693G>A (p.Gly565Arg)	rs770702636	0.00003
NM_153717.3(EVC):c.2731C>T (p.Arg911Ter)	rs767400887	0.00003
NM_000038.6(APC):c.7577A>G (p.His2526Arg)	rs750012595	0.00002
NM_000053.4(ATP7B):c.2668G>A (p.Val890Met)	rs786204718	0.00002
NM_000053.4(ATP7B):c.3139G>T (p.Asp1047Tyr)	rs1441316018	0.00002
NM_000059.4(BRCA2):c.7534C>T (p.Leu2512Phe)	rs80358980	0.00002
NM_000082.4(ERCC8):c.600dup (p.Ile201fs)	rs1468231556	0.00002
NM_000091.5(COL4A3):c.898G>A (p.Gly300Arg)	rs772708743	0.00002
NM_000195.5(HPS1):c.398+2T>C	rs1486224265	0.00002
NM_000237.3(LPL):c.755T>C (p.Ile252Thr)	rs118204080	0.00002
NM_000260.4(MYO7A):c.616C>T (p.Arg206Cys)	rs782361954	0.00002
NM_000303.3(PMM2):c.484C>T (p.Arg162Trp)	rs104894526	0.00002
NM_000492.4(CFTR):c.1055G>A (p.Arg352Gln)	rs121908753	0.00002
NM_000492.4(CFTR):c.3095A>G (p.Tyr1032Cys)	rs144055758	0.00002
NM_000492.4(CFTR):c.4426C>T (p.Gln1476Ter)	rs374705585	0.00002
NM_000527.5(LDLR):c.1027G>A (p.Gly343Ser)	rs730882096	0.00002
NM_000527.5(LDLR):c.1783C>T (p.Arg595Trp)	rs373371572	0.00002
NM_000554.6(CRX):c.268C>T (p.Arg90Trp)	rs104894673	0.00002
NM_001267550.2(TTN):c.107377+1G>A	rs112188483	0.00002
NM_001369.3(DNAH5):c.11653C>T (p.Arg3885Ter)	rs756032160	0.00002
NM_001378609.3(OTOGL):c.5449C>T (p.Arg1817Ter)	rs768620276	0.00002
NM_001382.4(DPAGT1):c.790G>A (p.Val264Met)	rs745872044	0.00002
NM_002528.7(NTHL1):c.115+1G>A	rs749908882	0.00002
NM_002693.3(POLG):c.2665G>A (p.Ala889Thr)	rs763393580	0.00002
NM_004092.4(ECHS1):c.713C>T (p.Ala238Val)	rs200584793	0.00002
NM_004360.5(CDH1):c.371G>A (p.Arg124His)	rs115418995	0.00002
NM_005138.3(SCO2):c.268C>T (p.Arg90Ter)	rs74315512	0.00002
NM_005476.7(GNE):c.2005G>A (p.Gly669Arg)	rs776384541	0.00002
NM_006005.3(WFS1):c.2007T>G (p.Tyr669Ter)	rs1443751733	0.00002
NM_017534.6(MYH2):c.2725G>T (p.Glu909Ter)	rs780124402	0.00002
NM_031307.4(PUS3):c.838C>T (p.Arg280Ter)	rs374443634	0.00002
NM_031407.7(HUWE1):c.12559C>T (p.Arg4187Cys)	rs121918527	0.00002
NM_000048.4(ASL):c.283C>T (p.Arg95Cys)	rs28940585	0.00001
NM_000051.4(ATM):c.72+1G>A	rs786204088	0.00001
NM_000051.4(ATM):c.7630-2A>C	rs587779866	0.00001
NM_000051.4(ATM):c.9023G>A (p.Arg3008His)	rs587781894	0.00001
NM_000059.4(BRCA2):c.7307A>T (p.Asn2436Ile)	rs80358955	0.00001
NM_000059.4(BRCA2):c.793+1G>A	rs81002846	0.00001
NM_000059.4(BRCA2):c.8009C>T (p.Ser2670Leu)	rs80359035	0.00001
NM_000059.4(BRCA2):c.8893G>C (p.Asp2965His)	rs80359141	0.00001
NM_000059.4(BRCA2):c.8971C>T (p.Arg2991Cys)	rs751787816	0.00001
NM_000059.4(BRCA2):c.9004G>A (p.Glu3002Lys)	rs80359152	0.00001
NM_000069.3(CACNA1S):c.1583G>A (p.Arg528His)	rs80338777	0.00001
NM_000092.5(COL4A4):c.1405G>T (p.Gly469Ter)	rs926605269	0.00001
NM_000128.4(F11):c.1247G>A (p.Cys416Tyr)	rs779802284	0.00001
NM_000138.5(FBN1):c.7754T>C (p.Ile2585Thr)	rs727503054	0.00001
NM_000155.4(GALT):c.772C>T (p.Arg258Cys)	rs368166217	0.00001
NM_000169.3(GLA):c.870G>C (p.Met290Ile)	rs869312438	0.00001
NM_000170.3(GLDC):c.1117C>T (p.Arg373Trp)	rs150171524	0.00001
NM_000179.3(MSH6):c.241G>A (p.Ala81Thr)	rs587779239	0.00001
NM_000188.3(HK1):c.2539G>A (p.Glu847Lys)	rs777849213	0.00001
NM_000203.5(IDUA):c.1148G>A (p.Arg383His)	rs754949360	0.00001
NM_000203.5(IDUA):c.1499A>G (p.Gln500Arg)	rs1715216061	0.00001
NM_000218.3(KCNQ1):c.1252-1G>C	rs1848628661	0.00001
NM_000218.3(KCNQ1):c.1664G>A (p.Arg555His)	rs199472800	0.00001
NM_000218.3(KCNQ1):c.776G>A (p.Arg259His)	rs199472720	0.00001
NM_000237.3(LPL):c.337T>C (p.Trp113Arg)	rs118204069	0.00001
NM_000238.4(KCNH2):c.1750G>A (p.Gly584Ser)	rs199473428	0.00001
NM_000245.4(MET):c.2102+7T>C	rs1584941903	0.00001
NM_000249.4(MLH1):c.1690C>T (p.Leu564Phe)	rs786202693	0.00001
NM_000256.3(MYBPC3):c.1227-13G>A	rs397515893	0.00001
NM_000271.5(NPC1):c.2292G>A (p.Ala764=)	rs772565983	0.00001
NM_000275.3(OCA2):c.807+1G>T	rs763219039	0.00001
NM_000277.3(PAH):c.1199+17G>A	rs62508613	0.00001
NM_000277.3(PAH):c.442-5C>G	rs62514909	0.00001
NM_000277.3(PAH):c.728G>A (p.Arg243Gln)	rs62508588	0.00001
NM_000277.3(PAH):c.938C>T (p.Ala313Val)	rs62642914	0.00001
NM_000297.4(PKD2):c.181C>T (p.Gln61Ter)	rs1355372474	0.00001
NM_000314.8(PTEN):c.517C>T (p.Arg173Cys)	rs121913293	0.00001
NM_000329.3(RPE65):c.560G>A (p.Gly187Glu)	rs752058510	0.00001
NM_000334.4(SCN4A):c.2023C>T (p.Arg675Trp)	rs121908556	0.00001
NM_000335.5(SCN5A):c.1099C>T (p.Arg367Cys)	rs199473097	0.00001
NM_000350.3(ABCA4):c.1648G>A (p.Gly550Arg)	rs61748558	0.00001
NM_000363.5(TNNI3):c.497C>T (p.Ser166Phe)	rs727504242	0.00001
NM_000371.4(TTR):c.238A>G (p.Thr80Ala)	rs121918070	0.00001
NM_000391.4(TPP1):c.1424C>T (p.Ser475Leu)	rs121908202	0.00001
NM_000410.4(HFE):c.211C>T (p.Arg71Ter)	rs759524388	0.00001
NM_000435.3(NOTCH3):c.544C>T (p.Arg182Cys)	rs28933697	0.00001
NM_000448.3(RAG1):c.2326C>T (p.Arg776Trp)	rs121918572	0.00001
NM_000478.6(ALPL):c.542C>T (p.Ser181Leu)	rs199590449	0.00001
NM_000492.4(CFTR):c.1315C>T (p.Pro439Ser)	rs397508187	0.00001
NM_000492.4(CFTR):c.1647T>G (p.Ser549Arg)	rs121909005	0.00001
NM_000492.4(CFTR):c.1826A>G (p.His609Arg)	rs397508310	0.00001
NM_000492.4(CFTR):c.579+5G>A	rs78440224	0.00001
NM_000527.5(LDLR):c.1216C>T (p.Arg406Trp)	rs121908043	0.00001
NM_000527.5(LDLR):c.1618G>A (p.Ala540Thr)	rs769370816	0.00001
NM_000527.5(LDLR):c.631C>T (p.His211Tyr)	rs771917370	0.00001
NM_000528.4(MAN2B1):c.685C>T (p.Arg229Trp)	rs763257568	0.00001
NM_000537.4(REN):c.145C>T (p.Arg49Ter)	rs121917741	0.00001
NM_000540.3(RYR1):c.13672C>T (p.Arg4558Trp)	rs771741606	0.00001
NM_000540.3(RYR1):c.14545G>A (p.Val4849Ile)	rs118192168	0.00001
NM_000540.3(RYR1):c.7027G>A (p.Gly2343Ser)	rs536596969	0.00001
NM_000540.3(RYR1):c.7268T>A (p.Met2423Lys)	rs118192174	0.00001
NM_000546.6(TP53):c.1010G>A (p.Arg337His)	rs121912664	0.00001
NM_000546.6(TP53):c.1025G>A (p.Arg342Gln)	rs375338359	0.00001
NM_000546.6(TP53):c.524G>A (p.Arg175His)	rs28934578	0.00001
NM_000546.6(TP53):c.844C>T (p.Arg282Trp)	rs28934574	0.00001
NM_000552.5(VWF):c.3970G>A (p.Gly1324Ser)	rs61749398	0.00001
NM_000554.6(CRX):c.121C>T (p.Arg41Trp)	rs104894672	0.00001
NM_000687.4(AHCY):c.145C>T (p.Arg49Cys)	rs369428934	0.00001
NM_000784.4(CYP27A1):c.1213C>T (p.Arg405Trp)	rs573951598	0.00001
NM_001005273.3(CHD3):c.5893G>A (p.Gly1965Ser)	rs1162303531	0.00001
NM_001038603.3(MARVELD2):c.1331+1G>A	rs762352115	0.00001
NM_001039141.3(TRIOBP):c.629-1G>C	rs766809690	0.00001
NM_001048174.2(MUTYH):c.604C>T (p.Gln202Ter)	rs1064796630	0.00001
NM_001048174.2(MUTYH):c.637C>T (p.Arg213Trp)	rs34126013	0.00001
NM_001083116.3(PRF1):c.1349C>T (p.Thr450Met)	rs189650890	0.00001
NM_001122955.4(BSCL2):c.461C>T (p.Ser154Leu)	rs137852973	0.00001
NM_001128126.3(AP4S1):c.294+1G>T	rs886041127	0.00001
NM_001164508.2(NEB):c.2784del (p.Asp929fs)	rs786204430	0.00001
NM_001171.6(ABCC6):c.4198G>A (p.Glu1400Lys)	rs63751241	0.00001
NM_001195263.2(PDZD7):c.490C>T (p.Arg164Trp)	rs200664140	0.00001
NM_001232.4(CASQ2):c.576C>A (p.Tyr192Ter)	rs758748280	0.00001
NM_001267550.2(TTN):c.106279C>T (p.Gln35427Ter)	rs1285334952	0.00001
NM_001267550.2(TTN):c.36448+2T>C	rs1426178024	0.00001
NM_001267550.2(TTN):c.38737G>T (p.Glu12913Ter)	rs767120669	0.00001
NM_001267550.2(TTN):c.52009C>T (p.Arg17337Ter)	rs1343120755	0.00001
NM_001267550.2(TTN):c.90697C>T (p.Arg30233Ter)	rs1553539391	0.00001
NM_001267550.2(TTN):c.94855C>T (p.Arg31619Ter)	rs869312121	0.00001
NM_001267550.2(TTN):c.95008C>T (p.Arg31670Ter)	rs1322596650	0.00001
NM_001369.3(DNAH5):c.8314C>T (p.Arg2772Ter)	rs781469274	0.00001
NM_001372044.2(SHANK3):c.2455+1G>A	rs1396379503	0.00001
NM_001605.3(AARS1):c.312G>A (p.Trp104Ter)	rs1398433261	0.00001
NM_001613.4(ACTA2):c.445C>T (p.Arg149Cys)	rs121434526	0.00001
NM_001927.4(DES):c.322G>T (p.Glu108Ter)	rs62636490	0.00001
NM_002180.3(IGHMBP2):c.2362C>T (p.Arg788Ter)	rs199839840	0.00001
NM_002225.5(IVD):c.863C>T (p.Ala288Val)	rs886042098	0.00001
NM_002427.4(MMP13):c.1052-1G>C	rs782613055	0.00001
NM_002473.6(MYH9):c.2105G>A (p.Arg702His)	rs80338827	0.00001
NM_002635.4(SLC25A3):c.158-303A>G	rs745305932	0.00001
NM_002693.3(POLG):c.2584G>A (p.Ala862Thr)	rs778429780	0.00001
NM_002769.5(PRSS1):c.365G>A (p.Arg122His)	rs111033565	0.00001
NM_003000.3(SDHB):c.725G>A (p.Arg242His)	rs74315368	0.00001
NM_003060.4(SLC22A5):c.394-16T>A	rs775097754	0.00001
NM_003119.4(SPG7):c.376G>C (p.Glu126Gln)	rs912983346	0.00001
NM_003235.5(TG):c.638+5G>A	rs774274702	0.00001
NM_003280.3(TNNC1):c.23C>T (p.Ala8Val)	rs267607125	0.00001
NM_003722.5(TP63):c.109C>T (p.Arg37Ter)	rs147340040	0.00001
NM_003801.4(GPAA1):c.619del (p.Met207fs)	rs782615259	0.00001
NM_003995.4(NPR2):c.1813C>T (p.Gln605Ter)	rs969576919	0.00001
NM_004092.4(ECHS1):c.541C>T (p.Arg181Cys)	rs754609693	0.00001
NM_004168.4(SDHA):c.1753C>T (p.Arg585Trp)	rs200397144	0.00001
NM_004183.4(BEST1):c.1444del (p.Glu482fs)	rs759410076	0.00001
NM_004281.4(BAG3):c.367C>T (p.Arg123Ter)	rs387906875	0.00001
NM_004646.4(NPHS1):c.2596C>T (p.Arg866Ter)	rs386833920	0.00001
NM_005373.3(MPL):c.317C>T (p.Pro106Leu)	rs750046020	0.00001
NM_005422.4(TECTA):c.2719C>T (p.Arg907Ter)	rs764424917	0.00001
NM_005559.4(LAMA1):c.184C>T (p.Arg62Ter)	rs758223206	0.00001
NM_006231.4(POLE):c.3745G>A (p.Val1249Met)	rs762626359	0.00001
NM_006412.4(AGPAT2):c.493-1G>C	rs606231168	0.00001
NM_006502.3(POLH):c.764+1G>A	rs772570523	0.00001
NM_006767.4(LZTR1):c.993+1G>A	rs770368435	0.00001
NM_007194.4(CHEK2):c.409C>T (p.Arg137Ter)	rs730881701	0.00001
NM_007194.4(CHEK2):c.846+1G>C	rs864622149	0.00001
NM_007294.4(BRCA1):c.4689C>G (p.Tyr1563Ter)	rs80357433	0.00001
NM_007294.4(BRCA1):c.4986+6T>C	rs80358086	0.00001
NM_007294.4(BRCA1):c.5096G>A (p.Arg1699Gln)	rs41293459	0.00001
NM_007294.4(BRCA1):c.5412C>T (p.Val1804=)	rs730881456	0.00001
NM_012179.4(FBXO7):c.961C>T (p.Arg321Ter)	rs369105683	0.00001
NM_014585.6(SLC40A1):c.610G>A (p.Gly204Ser)	rs387907377	0.00001
NM_015107.3(PHF8):c.1731-1G>A	rs797044651	0.00001
NM_015274.3(MAN2B2):c.1843C>T (p.Gln615Ter)	rs745775933	0.00001
NM_015909.4(NBAS):c.209+2T>G	rs773409140	0.00001
NM_016138.5(COQ7):c.3G>T (p.Met1Ile)	rs746489573	0.00001
NM_016219.5(MAN1B1):c.172G>T (p.Glu58Ter)	rs753503405	0.00001
NM_017646.6(TRIT1):c.967C>T (p.Arg323Trp)	rs370866302	0.00001
NM_017755.6(NSUN2):c.1222C>T (p.Arg408Ter)	rs1221890051	0.00001
NM_018026.4(PACS1):c.607C>T (p.Arg203Trp)	rs398123009	0.00001
NM_019098.5(CNGB3):c.1810C>T (p.Arg604Ter)	rs200805087	0.00001
NM_020247.5(COQ8A):c.637C>T (p.Arg213Trp)	rs119468005	0.00001
NM_020964.3(EPG5):c.5869+1G>A	rs748670315	0.00001
NM_020975.6(RET):c.2752A>G (p.Met918Val)	rs377767442	0.00001
NM_021971.4(GMPPB):c.1018G>A (p.Gly340Arg)	rs1064796834	0.00001
NM_022436.3(ABCG5):c.64C>T (p.Gln22Ter)	rs781098379	0.00001
NM_022787.4(NMNAT1):c.53A>G (p.Asn18Ser)	rs748902766	0.00001
NM_024570.4(RNASEH2B):c.172C>T (p.Gln58Ter)	rs75326546	0.00001
NM_024675.4(PALB2):c.1653T>A (p.Tyr551Ter)	rs118203997	0.00001
NM_024747.6(HPS6):c.1819C>T (p.Arg607Ter)	rs377169467	0.00001
NM_024809.5(TCTN2):c.1506-2A>G	rs374349989	0.00001
NM_025074.7(FRAS1):c.7285C>T (p.Arg2429Ter)	rs760890625	0.00001
NM_130837.3(OPA1):c.1936-2A>G	rs747454971	0.00001
NM_145239.3(PRRT2):c.913G>A (p.Gly305Arg)	rs767799831	0.00001
NM_170707.4(LMNA):c.1129C>T (p.Arg377Cys)	rs397517889	0.00001
NM_170707.4(LMNA):c.1744C>T (p.Arg582Cys)	rs918645468	0.00001
NM_173630.4(RTTN):c.1885C>T (p.Arg629Ter)	rs888852861	0.00001
NC_000011.10:g.47333189C>T	rs373746463
NM_000016.6(ACADM):c.683C>A (p.Thr228Asn)	rs149678400
NM_000033.4(ABCD1):c.1866-10G>A	rs398123108
NM_000038.6(APC):c.4970dup (p.Ser1658fs)	rs1554086340
NM_000051.4(ATM):c.652C>T (p.Gln218Ter)	rs1555066551
NM_000057.4(BLM):c.1479_1480del (p.Thr494fs)	rs746244182
NM_000059.4(BRCA2):c.10253_10256del (p.Ile3418fs)	rs80359259
NM_000059.4(BRCA2):c.1495C>T (p.Gln499Ter)	rs1566223700
NM_000059.4(BRCA2):c.5271T>A (p.Tyr1757Ter)	rs1555284139
NM_000059.4(BRCA2):c.5616_5620del (p.Lys1872fs)	rs80359525
NM_000059.4(BRCA2):c.6037A>T (p.Lys2013Ter)	rs80358840
NM_000059.4(BRCA2):c.7188G>A (p.Leu2396=)	rs587780871
NM_000059.4(BRCA2):c.7188G>T (p.Leu2396Phe)	rs587780871
NM_000059.4(BRCA2):c.8488-1G>A	rs397507404
NM_000059.4(BRCA2):c.8754+1G>T	rs397508006
NM_000059.4(BRCA2):c.956A>C (p.Asn319Thr)	rs55939572
NM_000066.4(C8B):c.361C>T (p.Arg121Ter)	rs150022116
NM_000071.3(CBS):c.676G>A (p.Ala226Thr)	rs763835246
NM_000088.4(COL1A1):c.3806G>A (p.Trp1269Ter)	rs72656341
NM_000088.4(COL1A1):c.985G>C (p.Gly329Arg)	rs1555574303
NM_000091.5(COL4A3):c.1219G>C (p.Gly407Arg)	rs1559878862
NM_000094.4(COL7A1):c.6023G>A (p.Arg2008His)	rs1002845719
NM_000122.2(ERCC3):c.1762dup (p.Glu588fs)	rs770925947
NM_000127.3(EXT1):c.1057-3C>G	rs200927981
NM_000128.4(F11):c.1075del (p.Ile359fs)	rs786204429
NM_000138.5(FBN1):c.1948C>T (p.Arg650Cys)	rs193922185
NM_000138.5(FBN1):c.3037G>A (p.Gly1013Arg)	rs140593
NM_000138.5(FBN1):c.510C>G (p.Tyr170Ter)	rs111671429
NM_000138.5(FBN1):c.5743C>T (p.Arg1915Cys)	rs1555395826
NM_000141.5(FGFR2):c.812G>T (p.Gly271Val)	rs1564919048
NM_000142.5(FGFR3):c.1620C>G (p.Asn540Lys)	rs28933068
NM_000142.5(FGFR3):c.749C>G (p.Pro250Arg)	rs4647924
NM_000155.4(GALT):c.776G>A (p.Arg259Gln)	rs886042070
NM_000162.5(GCK):c.1148C>T (p.Ser383Leu)	rs777870079
NM_000162.5(GCK):c.572G>A (p.Arg191Gln)	rs886042610
NM_000169.3(GLA):c.870G>A (p.Met290Ile)	rs869312438
NM_000179.3(MSH6):c.3151G>A (p.Val1051Ile)	rs576269342
NM_000179.3(MSH6):c.3259C>A (p.Pro1087Thr)	rs63750998
NM_000179.3(MSH6):c.3261dup (p.Phe1088fs)	rs267608078
NM_000180.4(GUCY2D):c.2513G>A (p.Arg838His)	rs61750173
NM_000199.5(SGSH):c.617G>C (p.Arg206Pro)	rs104894643
NM_000219.6(KCNE1):c.31_118del (p.Pro11fs)	rs1981025573
NM_000231.3(SGCG):c.525del (p.Phe175fs)	rs786204786
NM_000238.4(KCNH2):c.1838C>T (p.Thr613Met)	rs199473524
NM_000238.4(KCNH2):c.1882G>A (p.Gly628Ser)	rs121912507
NM_000243.3(MEFV):c.2230G>T (p.Ala744Ser)	rs61732874
NM_000249.4(MLH1):c.299G>C (p.Arg100Pro)	rs63750266
NM_000251.3(MSH2):c.1147C>T (p.Arg383Ter)	rs63749849
NM_000251.3(MSH2):c.2211-1G>T	rs267607979
NM_000257.4(MYH7):c.1750G>C (p.Gly584Arg)	rs121913626
NM_000257.4(MYH7):c.746G>A (p.Arg249Gln)	rs3218713
NM_000257.4(MYH7):c.788T>C (p.Ile263Thr)	rs397516269
NM_000260.4(MYO7A):c.2283-1G>T	rs397516295
NM_000264.5(PTCH1):c.140G>T (p.Arg47Leu)	rs775408408
NM_000264.5(PTCH1):c.724C>T (p.Gln242Ter)	rs376353501
NM_000277.3(PAH):c.47_48del (p.Leu15_Ser16insTer)	rs62642906
NM_000284.4(PDHA1):c.905G>A (p.Arg302His)	rs1064794149
NM_000293.3(PHKB):c.1972-2A>G	rs964263812
NM_000297.4(PKD2):c.41del (p.Asp14fs)	rs1474473957
NM_000314.8(PTEN):c.1003C>T (p.Arg335Ter)	rs121909231
NM_000314.8(PTEN):c.802-4_802-3del	rs34003473
NM_000314.8(PTEN):c.802-5_802-3del	rs34003473
NM_000322.5(PRPH2):c.493T>C (p.Cys165Arg)	rs2152010916
NM_000330.4(RS1):c.577C>T (p.Pro193Ser)	rs281865351
NM_000335.5(SCN5A):c.4996G>A (p.Val1666Ile)	rs199473293
NM_000352.6(ABCC8):c.4132G>C (p.Gly1378Arg)	rs925231098
NM_000359.3(TGM1):c.1147G>A (p.Val383Met)	rs121918722
NM_000363.5(TNNI3):c.470C>T (p.Ala157Val)	rs397516353
NM_000368.5(TSC1):c.3112AGC[7] (p.Ser1043dup)	rs2234980
NM_000369.5(TSHR):c.1657G>A (p.Ala553Thr)	rs121908872
NM_000374.5(UROD):c.942G>A (p.Glu314=)	rs121918062
NM_000382.3(ALDH3A2):c.979del (p.Lys326_Val327insTer)	rs779956047
NM_000383.4(AIRE):c.967_979del (p.Leu323fs)	rs386833675
NM_000391.4(TPP1):c.380G>A (p.Arg127Gln)	rs121908204
NM_000426.4(LAMA2):c.4682del (p.Lys1561fs)	rs1246940477
NM_000432.4(MYL2):c.64G>A (p.Glu22Lys)	rs104894368
NM_000435.3(NOTCH3):c.3043T>C (p.Cys1015Arg)	rs1599382214
NM_000435.3(NOTCH3):c.505C>T (p.Arg169Cys)	rs28933696
NM_000441.2(SLC26A4):c.365dup (p.Ile124fs)	rs786204730
NM_000455.5(STK11):c.1225C>T (p.Arg409Trp)	rs368466538
NM_000465.4(BARD1):c.176_177del (p.Glu59fs)	rs1057517589
NM_000465.4(BARD1):c.654G>A (p.Trp218Ter)	rs1553622530
NM_000466.3(PEX1):c.2097dup (p.Ile700fs)	rs61750415
NM_000492.3(CFTR):c.1521_1523del (p.Phe508del)	rs113993960
NM_000492.4(CFTR):c.2816A>G (p.His939Arg)	rs397508440
NM_000492.4(CFTR):c.349C>T (p.Arg117Cys)	rs77834169
NM_000492.4(CFTR):c.350G>A (p.Arg117His)	rs78655421
NM_000500.9(CYP21A2):c.844G>T (p.Val282Leu)	rs6471
NM_000500.9(CYP21A2):c.923dup (p.Leu308fs)	rs267606756
NM_000516.7(GNAS):c.794G>A (p.Arg265His)	rs2146285582
NM_000518.4(HBB):c.364G>C (p.Glu122Gln)	rs33946267
NM_000518.5(HBB):c.190C>T (p.His64Tyr)	rs33922873
NM_000518.5(HBB):c.344T>C (p.Leu115Pro)	rs36015961
NM_000527.5(LDLR):c.-135C>G	rs879254375
NM_000528.4(MAN2B1):c.2248C>T (p.Arg750Trp)	rs80338680
NM_000535.7(PMS2):c.830C>A (p.Thr277Lys)	rs1805322
NM_000539.3(RHO):c.568G>C (p.Asp190His)	rs104893779
NM_000540.3(RYR1):c.12319del (p.Ile4107fs)	rs754572007
NM_000540.3(RYR1):c.14582G>A (p.Arg4861His)	rs63749869
NM_000540.3(RYR1):c.3800C>G (p.Pro1267Arg)	rs150495044
NM_000540.3(RYR1):c.7304G>A (p.Arg2435His)	rs28933396
NM_000540.3(RYR1):c.8888T>C (p.Leu2963Pro)	rs756870293
NM_000541.5(SAG):c.76-2A>T
NM_000545.8(HNF1A):c.1781G>T (p.Ser594Ile)	rs2135854451
NM_000545.8(HNF1A):c.779C>T (p.Thr260Met)	rs886039544
NM_000545.8(HNF1A):c.872C>A (p.Pro291Gln)	rs193922606
NM_000546.6(TP53):c.638G>A (p.Arg213Gln)	rs587778720
NM_000548.5(TSC2):c.1832G>A (p.Arg611Gln)	rs28934872
NM_000548.5(TSC2):c.5228G>A (p.Arg1743Gln)	rs45507199
NM_000552.5(VWF):c.3797C>T (p.Pro1266Leu)	rs61749370
NM_000587.4(C7):c.1561C>A (p.Arg521Ser)	rs121964920
NM_000587.4(C7):c.811C>T (p.Gln271Ter)	rs2478192839
NM_000642.3(AGL):c.3216_3217del (p.Glu1072fs)	rs771069887
NM_000666.3(ACY1):c.561_562del (p.Phe187fs)
NM_000702.4(ATP1A2):c.1091C>T (p.Thr364Met)	rs1553244881
NM_000891.3(KCNJ2):c.224C>T (p.Thr75Met)	rs104894585
NM_001005361.3(DNM2):c.1106G>A (p.Arg369Gln)	rs121909089
NM_001008216.2(GALE):c.408C>A (p.Tyr136Ter)	rs727503943
NM_001008537.3(NEXMIF):c.1378A>G (p.Ser460Gly)	rs1004870160
NM_001018005.2(TPM1):c.574G>A (p.Glu192Lys)	rs199476315
NM_001025295.3(IFITM5):c.-14C>T	rs587776916
NM_001032221.6(STXBP1):c.1216C>T (p.Arg406Cys)	rs796053367
NM_001032221.6(STXBP1):c.416C>T (p.Pro139Leu)	rs796053353
NM_001035.3(RYR2):c.7202G>A (p.Arg2401His)	rs794728756
NM_001038.6(SCNN1A):c.1522C>T (p.Arg508Ter)	rs137852634
NM_001039591.3(USP9X):c.82dup (p.Leu28fs)	rs758083405
NM_001040142.2(SCN2A):c.2548C>T (p.Arg850Ter)	rs1553578503
NM_001042432.2(CLN3):c.370dup (p.Tyr124fs)	rs386833715
NM_001042492.3(NF1):c.2540T>C (p.Leu847Pro)	rs199474747
NM_001042492.3(NF1):c.5498T>C (p.Leu1833Pro)	rs2151541565
NM_001042492.3(NF1):c.647T>C (p.Leu216Pro)	rs199474756
NM_001042492.3(NF1):c.6642+18A>G	rs1555534893
NM_001042492.3(NF1):c.6642+31T>G	rs2151556799
NM_001080517.3(SETD5):c.3856del (p.Ser1286fs)	rs587777329
NM_001082971.2(DDC):c.1055del (p.Pro352fs)	rs2042497215
NM_001101426.4(CRPPA):c.165del (p.Cys56fs)	rs1554371369
NM_001101426.4(CRPPA):c.184del (p.Val62fs)	rs1048457038
NM_001110556.2(FLNA):c.620C>T (p.Pro207Leu)	rs28935469
NM_001110792.2(MECP2):c.437C>G (p.Ser146Cys)	rs61748390
NM_001110792.2(MECP2):c.455C>T (p.Ala152Val)	rs28934908
NM_001110792.2(MECP2):c.916C>T (p.Arg306Ter)	rs61751362
NM_001122630.2(CDKN1C):c.176C>T (p.Pro59Leu)	rs483352970
NM_001122630.2(CDKN1C):c.504CCCGGC[1] (p.168AP[6])	rs878853629
NM_001122630.2(CDKN1C):c.504CCCGGC[4] (p.168AP[9])	rs878853629
NM_001122659.3(EDNRB):c.757C>T (p.Arg253Ter)	rs104894390
NM_001126108.2(SLC12A3):c.1763C>T (p.Ala588Val)	rs121909382
NM_001127222.2(CACNA1A):c.4988G>A (p.Arg1663Gln)	rs121908247
NM_001134232.2(TMEM106B):c.754G>A (p.Asp252Asn)	rs1554310600
NM_001134363.3(RBM20):c.1900C>T (p.Arg634Trp)	rs796734066
NM_001134831.2(AHI1):c.910dup (p.Thr304fs)	rs753874898
NM_001142864.4(PIEZO1):c.5289C>G (p.Tyr1763Ter)	rs72811487
NM_001163435.3(TBCK):c.2252del (p.Pro751fs)	rs775034792
NM_001164508.2(NEB):c.16273C>T (p.Gln5425Ter)	rs1064796311
NM_001164760.2(PRKAR1B):c.1003C>T (p.Arg335Trp)	rs1475000361
NM_001165963.4(SCN1A):c.777C>A (p.Ser259Arg)	rs121918735
NM_001195263.2(PDZD7):c.2107del (p.Ser703fs)	rs397516633
NM_001198800.3(ASCC1):c.157dup (p.Glu53fs)	rs753324947
NM_001220.5(CAMK2B):c.416C>T (p.Pro139Leu)	rs1554389088
NM_001232.4(CASQ2):c.381C>T (p.Gly127=)	rs775663612
NM_001244008.2(KIF1A):c.37C>T (p.Arg13Cys)	rs1064794935
NM_001244008.2(KIF1A):c.760C>T (p.Arg254Trp)	rs879253888
NM_001244008.2(KIF1A):c.773C>T (p.Thr258Met)	rs1553638086
NM_001267550.2(TTN):c.106531+1G>A	rs760915007
NM_001267550.2(TTN):c.18920del (p.Ser6307fs)
NM_001267550.2(TTN):c.23204G>A (p.Trp7735Ter)	rs1031182598
NM_001267550.2(TTN):c.42205C>T (p.Arg14069Ter)	rs2060187635
NM_001267550.2(TTN):c.47885dup (p.Met15963fs)	rs2057454001
NM_001267550.2(TTN):c.58870C>T (p.Arg19624Ter)	rs1553649171
NM_001267550.2(TTN):c.63601C>T (p.Arg21201Ter)	rs764243269
NM_001267550.2(TTN):c.77100dup (p.Pro25701fs)	rs794729343
NM_001267550.2(TTN):c.85768C>T (p.Arg28590Ter)	rs748689777
NM_001276270.2(MBD4):c.939dup (p.Glu314fs)	rs558765093
NM_001276345.2(TNNT2):c.842A>T (p.Asn281Ile)	rs863225119
NM_001278293.3(ARL6):c.350-2A>C	rs2529972867
NM_001281740.3(FHOD3):c.1580_1582del (p.Ser527del)	rs1205890585
NM_001292034.3(TAB2):c.1636C>T (p.Arg546Ter)	rs1782216591
NM_001303256.3(MORC2):c.394C>T (p.Arg132Cys)	rs1064795559
NM_001320.7(CSNK2B):c.292-2A>T	rs1802000298
NM_001330260.2(SCN8A):c.5630A>G (p.Asn1877Ser)	rs587780455
NM_001349338.3(FOXP1):c.1540C>T (p.Arg514Cys)	rs869025203
NM_001349338.3(FOXP1):c.1574G>A (p.Arg525Gln)	rs1553663084
NM_001354604.2(MITF):c.1150G>A (p.Ala384Thr)	rs202020443
NM_001356.5(DDX3X):c.1126C>T (p.Arg376Cys)	rs796052231
NM_001356.5(DDX3X):c.1807C>T (p.Arg603Ter)	rs886041705
NM_001360.3(DHCR7):c.433A>C (p.Ile145Leu)	rs1555146475
NM_001360.3(DHCR7):c.964-1G>C	rs138659167
NM_001363.5(DKC1):c.1133G>A (p.Arg378Gln)	rs1057520719
NM_001363.5(DKC1):c.1494GAA[8] (p.Lys505dup)	rs782576893
NM_001370259.2(MEN1):c.784-9G>A	rs794728625
NM_001375380.1(EBF3):c.1210C>T (p.Arg404Ter)	rs1564816319
NM_001378778.1(MPDZ):c.3100C>T (p.Arg1034Ter)	rs755276577
NM_001384474.1(LOXHD1):c.3924C>A (p.Tyr1308Ter)	rs184966970
NM_001384474.1(LOXHD1):c.4714C>T (p.Arg1572Ter)	rs75949023
NM_001384732.1(CPLANE1):c.834+1G>T	rs1581014582
NM_001457.4(FLNB):c.4390+2T>C	rs745381057
NM_001791.4(CDC42):c.68A>G (p.Tyr23Cys)	rs797044916
NM_001793.6(CDH3):c.691+1G>A
NM_001904.4(CTNNB1):c.1759C>T (p.Arg587Ter)	rs1064796453
NM_002016.2(FLG):c.1501C>T (p.Arg501Ter)	rs61816761
NM_002016.2(FLG):c.4785_4788del (p.Ser1595fs)	rs761519693
NM_002016.2(FLG):c.7339C>T (p.Arg2447Ter)	rs138726443
NM_002335.4(LRP5):c.593A>G (p.Asn198Ser)	rs1085307078
NM_002439.5(MSH3):c.1060dup (p.Val354fs)	rs1580553669
NM_002439.5(MSH3):c.2318+5del	rs779491624
NM_002485.5(NBN):c.181_182del (p.Thr60_Asp61insTer)	rs768378152
NM_002524.5(NRAS):c.182A>G (p.Gln61Arg)	rs11554290
NM_002524.5(NRAS):c.268T>C (p.Phe90Leu)	rs1393160852
NM_002691.4(POLD1):c.208G>T (p.Val70Phe)	rs147911699
NM_002734.5(PRKAR1A):c.1102C>T (p.Arg368Ter)	rs387906692
NM_002764.4(PRPS1):c.344T>C (p.Met115Thr)	rs80338732
NM_002834.5(PTPN11):c.179G>T (p.Gly60Val)	rs397507509
NM_002834.5(PTPN11):c.214G>A (p.Ala72Thr)	rs121918453
NM_002834.5(PTPN11):c.846C>G (p.Ile282Met)	rs397507530
NM_002834.5(PTPN11):c.854T>G (p.Phe285Cys)	rs121918463
NM_003172.4(SURF1):c.-11_13del (p.Met1_Ala5del)	rs863224229
NM_003242.6(TGFBR2):c.1561T>C (p.Trp521Arg)	rs1575166666
NM_003560.4(PLA2G6):c.1904G>A (p.Arg635Gln)	rs387906863
NM_003640.5(ELP1):c.641del (p.Pro214fs)	rs759412460
NM_004004.6(GJB2):c.35G>T (p.Gly12Val)	rs1801002
NM_004168.4(SDHA):c.554dup (p.Ala186fs)	rs1173940446
NM_004183.4(BEST1):c.1100+1G>C	rs1434513582
NM_004360.5(CDH1):c.1901C>T (p.Ala634Val)	rs121964878
NM_004364.5(CEBPA):c.546GCC[6] (p.Pro189del)	rs746430067
NM_004370.6(COL12A1):c.2179C>T (p.Arg727Ter)	rs1064796670
NM_004408.4(DNM1):c.1076G>C (p.Gly359Ala)	rs587777862
NM_004408.4(DNM1):c.127G>A (p.Gly43Ser)	rs1554767313
NM_004408.4(DNM1):c.443A>G (p.Gln148Arg)	rs1554772959
NM_004525.3(LRP2):c.13139del (p.Pro4380fs)	rs80338754
NM_004722.4(AP4M1):c.1225T>C (p.Phe409Leu)	rs760907496
NM_004897.5(MINPP1):c.687dup (p.Asp230Ter)	rs1249046608
NM_004984.4(KIF5A):c.838C>T (p.Arg280Cys)	rs121434442
NM_005035.4(POLRMT):c.3459C>G (p.Tyr1153Ter)	rs200224860
NM_005188.4(CBL):c.1111T>A (p.Tyr371Asn)	rs267606706
NM_005585.5(SMAD6):c.837C>G (p.Tyr279Ter)	rs1595763070
NM_005609.4(PYGM):c.2392T>C (p.Trp798Arg)	rs119103258
NM_005609.4(PYGM):c.415C>T (p.Arg139Trp)	rs367990192
NM_005633.4(SOS1):c.1310T>C (p.Ile437Thr)	rs397517150
NM_006009.4(TUBA1A):c.344T>C (p.Ile115Thr)	rs1085307716
NM_006017.3(PROM1):c.1354dup (p.Tyr452fs)	rs543698823
NM_006204.4(PDE6C):c.2192G>A (p.Trp731Ter)	rs1589705946
NM_006231.4(POLE):c.2865-5_2865-4del	rs369732588
NM_006397.3(RNASEH2A):c.206dup (p.Thr70fs)	rs549586181
NM_006565.4(CTCF):c.1016G>A (p.Arg339Gln)	rs1567610917
NM_006565.4(CTCF):c.1024C>T (p.Arg342Cys)	rs1131691283
NM_006662.3(SRCAP):c.7303C>T (p.Arg2435Ter)	rs199469465
NM_006767.4(LZTR1):c.2069+2T>A
NM_006767.4(LZTR1):c.2090G>A (p.Arg697Gln)	rs370638947
NM_006767.4(LZTR1):c.791+1G>A	rs148031742
NM_006912.6(RIT1):c.244T>C (p.Phe82Leu)	rs869025194
NM_006922.4(SCN3A):c.2624T>C (p.Ile875Thr)	rs1057518801
NM_006949.4(STXBP2):c.1621G>A (p.Gly541Ser)	rs61736587
NM_007059.4(KPTN):c.184dup (p.Ile62fs)	rs1243527780
NM_007126.5(VCP):c.572G>A (p.Arg191Gln)	rs121909334
NM_007194.4(CHEK2):c.231CCAAGAACCTGAGGA[1] (p.77DQEPE[1])	rs587780181
NM_007255.3(B4GALT7):c.277dup (p.His93fs)	rs879255634
NM_007289.4(MME):c.467del (p.Pro156fs)	rs749320057
NM_007294.4(BRCA1):c.131G>T (p.Cys44Phe)	rs80357446
NM_007294.4(BRCA1):c.1843TCT[1] (p.Ser616del)	rs80358329
NM_007294.4(BRCA1):c.190T>C (p.Cys64Arg)	rs80357064
NM_007294.4(BRCA1):c.191G>A (p.Cys64Tyr)	rs55851803
NM_007294.4(BRCA1):c.4964C>T (p.Ser1655Phe)	rs80357390
NM_007294.4(BRCA1):c.4987-1G>A	rs730881495
NM_007294.4(BRCA1):c.5074+1G>T	rs80358053
NM_007294.4(BRCA1):c.5074+2T>C	rs80358089
NM_007294.4(BRCA1):c.5509T>C (p.Trp1837Arg)	rs80356959
NM_007294.4(BRCA1):c.60A>C (p.Lys20Asn)	rs202168814
NM_012330.4(KAT6B):c.1061+1G>A	rs2133689570
NM_013275.6(ANKRD11):c.7535G>A (p.Arg2512Gln)	rs2033535934
NM_014014.5(SNRNP200):c.2041C>T (p.Arg681Cys)	rs959069360
NM_014028.4(OSTM1):c.796C>T (p.Arg266Ter)	rs781715787
NM_014141.6(CNTNAP2):c.3262C>T (p.Arg1088Ter)	rs766777011
NM_014231.5(VAMP1):c.129+2T>G
NM_014319.5(LEMD3):c.1801G>T (p.Glu601Ter)	rs1565799131
NM_014844.5(TECPR2):c.1751del (p.Gly584fs)	rs1345546964
NM_014874.4(MFN2):c.1126A>G (p.Met376Val)	rs863224967
NM_014946.4(SPAST):c.1276C>T (p.Leu426Phe)	rs1060502227
NM_014946.4(SPAST):c.1496G>A (p.Arg499His)	rs878854991
NM_014946.4(SPAST):c.1849T>G (p.Ter617Glu)	rs1553321270
NM_014967.5(FAN1):c.141C>A (p.Cys47Ter)	rs144469584
NM_015015.3(KDM4B):c.2173C>T (p.Arg725Ter)	rs2512147217
NM_015021.3(ZNF292):c.6160_6161del (p.Glu2054fs)	rs1301328139
NM_015311.3(OBSL1):c.35dup (p.Cys13fs)	rs752401295
NM_015340.4(LARS2):c.1287del (p.Ala430fs)	rs2529019979
NM_015346.4(ZFYVE26):c.2338C>T (p.Arg780Ter)	rs941230062
NM_016120.4(RLIM):c.1159C>T (p.Arg387Cys)	rs1569309776
NM_016529.6(ATP8A2):c.1761dup (p.Arg588fs)	rs1156904586
NM_017547.4(FOXRED1):c.612_615dup (p.Ala206fs)	rs398124308
NM_017646.6(TRIT1):c.22C>T (p.Arg8Ter)	rs184469579
NM_017646.6(TRIT1):c.334del (p.Arg112fs)	rs536000212
NM_017780.4(CHD7):c.5210+3A>G	rs1554602588
NM_017780.4(CHD7):c.6079C>T (p.Arg2027Ter)	rs886040995
NM_017849.4(TMEM127):c.410-2A>C	rs121908826
NM_017946.4(FKBP14):c.362dup (p.Glu122fs)	rs542489955
NM_018192.4(P3H2):c.1189-1G>A	rs1577254356
NM_018418.5(SPATA7):c.20_23delTCAG	rs527236050
NM_020297.4(ABCC9):c.3460C>T (p.Arg1154Trp)	rs387907208
NM_020320.5(RARS2):c.1390C>T (p.Gln464Ter)	rs753312969
NM_020822.3(KCNT1):c.2944-52CTCC[9]	rs55843930
NM_020975.6(RET):c.1858T>C (p.Cys620Arg)	rs77316810
NM_020988.3(GNAO1):c.709G>A (p.Glu237Lys)	rs1064794533
NM_020988.3(GNAO1):c.724-8G>A	rs1085307876
NM_024426.6(WT1):c.1447+4C>T	rs587776577
NM_024514.5(CYP2R1):c.88del (p.Leu30fs)
NM_024596.5(MCPH1):c.427dup (p.Thr143fs)	rs199422125
NM_024675.4(PALB2):c.3350G>A (p.Arg1117Lys)	rs876659859
NM_024675.4(PALB2):c.3507_3508del (p.His1170fs)	rs587776428
NM_024678.6(NARS2):c.951C>T (p.Asn317=)
NM_030632.3(ASXL3):c.3106C>T (p.Arg1036Ter)	rs1131691668
NM_031407.7(HUWE1):c.328C>T (p.Arg110Trp)	rs1057520538
NM_032043.3(BRIP1):c.1702_1703del (p.Asn568fs)	rs1057519365
NM_032270.5(LRRC8C):c.1291A>G (p.Ile431Val)
NM_032578.4(MYPN):c.3127del (p.Ser1043fs)	rs1589608098
NM_032588.4(TRIM63):c.739C>T (p.Gln247Ter)	rs148395034
NM_033629.6(TREX1):c.868_885del (p.Pro290_Ala295del)	rs79318303
NM_052867.4(NALCN):c.1894C>T (p.Arg632Ter)	rs541633673
NM_078470.6(COX15):c.1030T>C (p.Ser344Pro)	rs397514662
NM_130837.3(OPA1):c.1034G>A (p.Arg345Gln)	rs121908375
NM_133433.4(NIPBL):c.6893G>A (p.Arg2298His)	rs587784024
NM_138694.4(PKHD1):c.3766del (p.Gln1256fs)	rs746972457
NM_138967.4(SCAMP5):c.538G>T (p.Gly180Trp)	rs1184981709
NM_139242.4(MTFMT):c.374C>T (p.Ser125Leu)	rs397514614
NM_144773.4(PROKR2):c.253C>T (p.Arg85Cys)	rs141090506
NM_145239.3(PRRT2):c.649dup (p.Arg217fs)	rs587778771
NM_152419.3(HGSNAT):c.1170del (p.Trp390fs)	rs748387885
NM_152703.5(SAMD9L):c.2956C>T (p.Arg986Cys)	rs1554341158
NM_152722.5(HEPACAM):c.275G>A (p.Arg92Gln)	rs387907050
NM_152743.4(BRAT1):c.1371_1395+16del	rs1224820591
NM_153682.3(PIGP):c.384del (p.Glu129fs)	rs778481061
NM_170707.4(LMNA):c.743T>C (p.Leu248Pro)	rs58850446
NM_172107.4(KCNQ2):c.833T>C (p.Ile278Thr)	rs1057523728
NM_172107.4(KCNQ2):c.841G>A (p.Gly281Arg)	rs794727813
NM_172362.3(KCNH1):c.1070G>A (p.Arg357Gln)	rs886041300
NM_173630.4(RTTN):c.5186-4A>G	rs28599773
NM_177438.3(DICER1):c.1174C>T (p.Arg392Ter)	rs1131691211
NM_177559.3(CSNK2A1):c.593A>G (p.Lys198Arg)	rs869312840
NM_178170.3(NEK8):c.133C>T (p.Arg45Trp)	rs1567759130
NM_182760.4(SUMF1):c.785A>G (p.Gln262Arg)	rs1064793391
NM_182943.3(PLOD2):c.1318C>T (p.Arg440Ter)	rs778254905
NM_183065.4(TMEM107):c.*751C>T	rs117595965
NM_183065.4(TMEM107):c.*760G>T	rs116395281
NM_194454.3(KRIT1):c.1927C>T (p.Gln643Ter)	rs1563240592
NM_197968.4(ZMYM2):c.1765C>T (p.Arg589Ter)	rs1952668177
NM_198060.4(NRAP):c.994-6_994-4dup
NM_205861.3(DHDDS):c.110G>A (p.Arg37His)	rs1553121073
NM_206933.4(USH2A):c.1055C>T (p.Thr352Ile)	rs780308389
NM_213599.3(ANO5):c.898dup (p.Ile300fs)	rs1383346134