Variants from OMIM with conflicting interpretations

Minimum review status of the submission from OMIM:	★☆☆☆ criteria provided ★★★☆ reviewed by expert panel ★★★★ practice guideline	Collection method of the submission from OMIM:	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
21602	7011	138	4906	145	489	2164	7225

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
OMIM		pathogenic	likely pathogenic	uncertain significance	likely benign	benign	affects	association	drug response	protective	other
	pathogenic	137	4853	1769	304	311	12	3	26	3	31
	uncertain significance	38	25	0	85	80	1	1	1	0	1
	benign	15	4	23	53	0	2	2	2	3	5
	affects	14	3	24	10	24	0	3	0	0	1
	association	10	4	9	13	30	3	1	3	1	2
	drug response	6	3	3	11	4	0	0	0	0	10
	protective	4	3	4	8	18	0	1	0	0	0
	other	107	63	161	72	13	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	2725	39	243	50	67	592	989
Fulgent Genetics, Fulgent Genetics	0	1130	22	440	3	44	119	628
SIB Swiss Institute of Bioinformatics	0	120	0	336	0	0	100	436
Counsyl	0	290	4	313	6	0	85	408
Women's Health and Genetics/Laboratory Corporation of America, LabCorp	0	1453	5	211	15	86	85	400
Revvity Omics, Revvity	0	791	12	247	3	18	112	390
Baylor Genetics	0	1402	13	254	0	21	74	362
Genomic Medicine Center of Excellence, King Faisal Specialist Hospital and Research Centre	0	465	0	202	3	6	147	358
GeneDx	0	343	31	53	21	97	154	353
Illumina Laboratory Services, Illumina	0	399	8	92	35	15	193	340
Department of Pathology and Laboratory Medicine, Sinai Health System	0	242	17	127	8	14	163	328
3billion	0	1168	5	269	2	6	36	318
Natera, Inc.	0	876	0	283	7	0	25	315
ARUP Laboratories, Molecular Genetics and Genomics, ARUP Laboratories	0	274	13	32	7	184	67	301
PreventionGenetics, part of Exact Sciences	0	152	27	32	23	67	104	252
Institute of Human Genetics, University of Leipzig Medical Center	0	533	11	178	4	1	45	239
Mendelics	0	392	9	42	17	6	132	206
Genome-Nilou Lab	0	344	0	135	14	0	47	196
Quest Diagnostics Nichols Institute San Juan Capistrano	0	88	4	6	3	134	21	166
CeGaT Center for Human Genetics Tuebingen	0	128	15	19	22	29	79	164
Mayo Clinic Laboratories, Mayo Clinic	0	103	10	15	14	57	66	160
Breakthrough Genomics, Breakthrough Genomics	0	132	1	14	20	45	74	152
Victorian Clinical Genetics Services, Murdoch Childrens Research Institute	0	879	10	69	1	0	62	142
Variantyx, Inc.	0	333	13	119	0	3	5	140
Broad Center for Mendelian Genomics, Broad Institute of MIT and Harvard	0	157	0	77	6	0	51	133
Eurofins Ntd Llc (ga)	0	97	8	6	5	66	49	132
Myriad Genetics, Inc.	0	406	6	114	3	0	9	132
First Genomix Gene Laboratory, Genetic Diagnostics Department	0	233	0	122	0	0	2	124
Laboratory for Molecular Medicine, Mass General Brigham Personalized Medicine	0	263	0	66	4	11	36	117
MGZ Medical Genetics Center	0	237	5	89	0	0	18	112
Neuberg Centre For Genomic Medicine, NCGM	0	403	2	75	1	2	27	107
Juno Genomics, Hangzhou Juno Genomics, Inc	0	257	3	79	0	6	16	104
Solve-RD Consortium	0	0	0	91	0	0	2	93
Centre for Mendelian Genomics, University Medical Centre Ljubljana	0	152	1	46	0	0	29	76
Genetic Services Laboratory, University of Chicago	0	236	3	43	7	5	18	76
Laboratorio de Genetica e Diagnostico Molecular, Hospital Israelita Albert Einstein	0	187	1	65	0	1	8	75
Inherited Neuropathy Consortium Ii, University Of Miami	0	0	0	0	0	0	72	72
Genomics England Pilot Project, Genomics England	0	48	2	66	0	0	0	68
Kasturba Medical College, Manipal, Kasturba Medical College, Manipal, Manipal Academy of Higher Education, Manipal, India	0	119	0	55	0	2	10	67
Reproductive Health Research and Development, BGI Genomics	0	57	2	17	0	2	42	63
Genomic Research Center, Shahid Beheshti University of Medical Sciences	0	93	0	36	3	0	22	61
Ambry Genetics	0	112	4	13	10	1	33	60
Equipe Genetique des Anomalies du Developpement, Université de Bourgogne	0	140	2	39	1	2	17	60
Genetics and Molecular Pathology, SA Pathology	0	177	0	47	1	0	10	58
University of Washington Center for Mendelian Genomics, University of Washington	0	43	1	50	0	3	3	56
Clinical Genetics DNA and cytogenetics Diagnostics Lab, Erasmus MC, Erasmus Medical Center	0	68	7	8	8	11	20	54
Juha Muilu Group; Institute for Molecular Medicine Finland (FIMM)	0	7	0	53	0	0	0	53
Department of Human Genetics, Hannover Medical School	0	103	4	42	0	0	6	52
NIHR Bioresource Rare Diseases, University of Cambridge	0	21	1	38	0	5	7	51
Diagnostic Laboratory, Department of Genetics, University Medical Center Groningen	0	81	8	4	10	11	17	50
Biochemical Molecular Genetic Laboratory, King Abdulaziz Medical City	0	101	0	41	0	1	7	49
Institute of Medical Genetics and Applied Genomics, University Hospital Tübingen	0	164	5	38	0	2	4	49
Greenwood Genetic Center Diagnostic Laboratories, Greenwood Genetic Center	0	183	5	37	0	3	3	48
OMIM	35580	210	1	0	1	40	7	48
Undiagnosed Diseases Network, NIH	0	112	0	26	0	0	22	47
Dubai Health Genomic Medicine Center, Dubai Health	0	79	1	28	1	5	10	45
Joint Genome Diagnostic Labs from Nijmegen and Maastricht, Radboudumc and MUMC+	0	51	9	13	1	5	17	45
Athena Diagnostics	0	61	5	2	4	7	26	43
Dasa	0	148	9	14	0	14	6	43
New York Genome Center	0	78	0	25	0	1	17	42
Genome Diagnostics Laboratory, University Medical Center Utrecht	0	46	3	3	10	8	16	40
Rady Children's Institute for Genomic Medicine, Rady Children's Hospital San Diego	0	118	8	26	0	5	1	39
Soonchunhyang University Bucheon Hospital, Soonchunhyang University Medical Center	0	13	0	18	0	1	17	36
ISTH-SSC Genomics in Thrombosis and Hemostasis, KU Leuven, Center for Molecular and Vascular Biology	0	43	0	24	0	1	10	35
Institute of Human Genetics Munich, TUM University Hospital	0	388	6	28	0	0	1	35
Laboratory of Genetics, Children's Clinical University Hospital Latvia	0	25	9	1	3	8	15	35
LDLR-LOVD, British Heart Foundation	0	25	0	34	0	0	0	34
Lupski Lab, Baylor-Hopkins CMG, Baylor College of Medicine	0	82	0	29	0	0	6	34
Clinical Genetics Laboratory, Skane University Hospital Lund	0	73	4	17	0	8	3	32
Medical and Scientific Branch, Hong Kong Genome Institute	0	54	1	31	0	0	0	32
Center for Genomic Medicine, Rigshospitalet, Copenhagen University Hospital	0	22	4	3	0	13	11	31
Foundation for Research in Genetics and Endocrinology, FRIGE's Institute of Human Genetics	0	75	0	23	0	0	7	30
Molecular Diagnostics Lab, Nemours Children's Health, Delaware	0	23	0	28	0	0	2	30
ClinVar Staff, National Center for Biotechnology Information (NCBI)	0	27	0	21	0	1	7	29
Johns Hopkins Genomics, Johns Hopkins University	0	123	2	16	1	0	9	28
HudsonAlpha Institute for Biotechnology, HudsonAlpha Institute for Biotechnology	0	113	4	21	0	0	2	27
CENTOGENE GmbH and LLC - Guiding Precision Medicine	0	138	0	13	0	3	10	26
Clinical Genetics, Academic Medical Center	0	18	3	4	1	5	13	26
Clinical Genomics Laboratory, Washington University in St. Louis	0	66	2	14	0	0	10	26
Institute for Genomic Medicine (IGM) Clinical Laboratory, Nationwide Children's Hospital	0	51	10	15	0	0	0	25
Center for Pediatric Genomic Medicine, Children's Mercy Hospital and Clinics	0	17	0	1	4	5	14	24
Department of Clinical Genetics, Copenhagen University Hospital, Rigshospitalet	0	43	0	20	0	1	2	23
Genome Diagnostics Laboratory, Amsterdam University Medical Center	0	20	3	6	3	5	6	23
Genomenon, Inc, Genomenon, Inc	0	37	0	8	2	0	13	23
Laboratory of Medical Genetics, National & Kapodistrian University of Athens	0	214	0	21	0	0	2	23
Molecular Genetics, Royal Melbourne Hospital	0	58	2	11	0	0	10	23
Institute of Medical Molecular Genetics, University of Zurich	0	4	0	20	0	1	1	22
Clinical Genetics Laboratory, University Hospital Schleswig-Holstein	0	68	3	12	0	2	4	21
Genetics and Genomic Medicine Centre, NeuroGen Healthcare, NeuroGen Healthcare	0	45	1	18	0	2	0	21
Hadassah Hebrew University Medical Center	0	33	1	16	0	0	4	21
Institute of Human Genetics, Heidelberg University	0	38	2	18	0	0	1	21
Robarts Research Institute, Western University	0	1	0	21	0	0	0	21
Knight Diagnostic Laboratories, Oregon Health and Sciences University	0	80	3	14	0	1	2	20
CSER _CC_NCGL, University of Washington	0	2	1	2	3	0	13	19
Center for Genomics, Ann and Robert H. Lurie Children's Hospital of Chicago	0	23	1	4	1	0	13	19
ClinPGx	0	2	0	0	0	19	0	19
Clinical Genomics, Uppaluri K&H Personalized Medicine Clinic	0	3	0	9	0	0	10	19
Color Diagnostics, LLC DBA Color Health	0	51	7	7	2	0	3	19
Kariminejad - Najmabadi Pathology & Genetics Center	0	35	0	16	0	0	3	19
Laboratory of Diagnosis and Therapy of Lysosomal Disorders, University of Padova	0	22	0	14	0	0	5	19
Laboratory of Diagnostic Genome Analysis, Leiden University Medical Center (LUMC)	0	7	2	3	3	3	8	19
Genomic Diagnostic Laboratory, Division of Genomic Diagnostics, Children's Hospital of Philadelphia	0	65	3	6	1	1	7	18
Human Genome Sequencing Center Clinical Lab, Baylor College of Medicine	0	61	5	12	0	0	1	18
Molecular Diagnostics Laboratory, M Health Fairview: University of Minnesota	0	22	0	18	0	0	0	18
SingHealth Duke-NUS Institute of Precision Medicine	0	16	0	15	0	0	3	18
Suma Genomics	0	41	0	13	0	0	5	18
UNC Molecular Genetics Laboratory, University of North Carolina at Chapel Hill	0	39	0	17	0	0	1	18
Department of Genetics, Sultan Qaboos University Hospital	0	48	0	12	0	0	5	17
Molecular Biology Laboratory, Fundació Puigvert	0	10	0	16	0	1	0	17
All of Us Research Program, National Institutes of Health	0	71	7	4	3	1	1	16
Centre de Génétique Moléculaire et Chromosomique, Unité de génétique de l'Obésité et des Dyslipidémies, APHP, GH Hôpitaux Universitaires Pitié-Salpêtrière / Charles-Foix	0	12	0	15	0	0	1	16
Daryl Scott Lab, Baylor College of Medicine	0	81	2	6	0	0	8	16
Dept. Genetics and Cancer, Menzies Institute for Medical Research, University of Tasmania	0	3	0	9	0	0	7	16
OLLIN Analises Genomicas, OLLIN	0	56	2	12	0	0	2	16
UCLA Clinical Genomics Center, UCLA	0	14	0	16	0	0	0	16
AiLife Diagnostics, AiLife Diagnostics	0	8	5	5	0	4	1	15
Institute of Immunology and Genetics Kaiserslautern	0	59	1	10	0	0	4	15
Ocular Genomics Institute, Massachusetts Eye and Ear	0	35	0	15	0	0	0	15
Pittsburgh Clinical Genomics Laboratory, University of Pittsburgh Medical Center	0	37	0	13	0	0	2	15
St. Jude Molecular Pathology, St. Jude Children's Research Hospital	0	39	3	6	0	0	6	15
Institute for Medical Genetics and Human Genetics, Charité - Universitätsmedizin Berlin	0	31	0	12	0	0	2	14
Laboratoire de Génétique Moléculaire, CHU Bordeaux	0	25	0	13	0	0	1	14
Unidad de Genómica Garrahan, Hospital de Pediatría Garrahan	0	9	0	2	1	6	5	14
Center for Medical Genetics Ghent, University of Ghent	0	8	0	12	0	0	1	13
Centre of Medical Genetics, University Hospital Muenster	0	29	1	5	0	5	2	13
ClinGen Malignant Hyperthermia Susceptibility Variant Curation Expert Panel, ClinGen	0	0	10	3	0	0	0	13
Gharavi Laboratory, Columbia University	0	10	3	9	0	0	1	13
Institute for Clinical Genetics, University Hospital TU Dresden, University Hospital TU Dresden	0	15	1	3	0	2	7	13
Laboratory of Genetics and Molecular Cardiology, University of São Paulo	0	14	0	12	0	0	1	13
Blueprint Genetics	0	41	0	7	0	3	2	12
Genomic Medicine Lab, University of California San Francisco	0	34	0	6	0	0	6	12
Lifecell International Pvt. Ltd	0	47	0	12	0	0	0	12
Suna and Inan Kirac Foundation Neurodegeneration Research Laboratory, Koc University	0	5	0	10	0	0	2	12
Wong Mito Lab, Molecular and Human Genetics, Baylor College of Medicine	0	25	0	10	0	0	2	12
ClinGen Severe Combined Immunodeficiency Variant Curation Expert Panel, ClinGen	0	18	0	6	3	0	2	11
Clingen Thrombosis Variant Curation Expert Panel, ClinGen	0	14	0	7	0	0	4	11
Clinical Genomics Laboratory, Stanford Medicine	0	33	0	4	0	0	7	11
Division of Human Genetics, Children's Hospital of Philadelphia	0	34	0	7	0	2	2	11
Genesolutions, Medical Genetics Institutes, Ho Chi Minh City, Vietnam	0	25	0	4	0	3	4	11
Genetics Laboratory, Great Ormond Street Hospital NHS Foundation Trust, North Thames Genomic Laboratory Hub	0	25	4	3	0	2	2	11
Institute of Human Genetics, Clinical Exome/Genome Diagnostics Group, University Hospital Bonn	0	34	0	9	0	0	2	11
Institute of Human Genetics, University Hospital of Duesseldorf	0	30	1	8	0	0	2	11
KCCC/NGS Laboratory, Kuwait Cancer Control Center	0	20	1	1	5	1	3	11
Kids Research, The Children's Hospital at Westmead	0	7	0	10	0	0	1	11
Molecular Genetics Laboratory, BC Children's and BC Women's Hospitals	0	48	0	9	0	0	1	10
Molecular Genetics Laboratory, Centre for Cardiovascular Surgery and Transplantation	0	3	0	10	0	0	0	10
Molecular Pathology, Peter Maccallum Cancer Centre	0	34	2	5	0	0	3	10
NeuroMeGen, Hospital Clinico Santiago de Compostela	0	1	0	10	0	0	0	10
Yale Center for Mendelian Genomics, Yale University	0	22	0	10	0	0	0	10
Zotz-Klimas Genetics Lab, MVZ Zotz Klimas	0	48	0	5	0	0	5	10
Biesecker Lab/Clinical Genomics Section, National Institutes of Health	0	7	1	3	2	0	3	9
ClinGen PAH Variant Curation Expert Panel	0	35	0	9	0	0	0	9
MVZ Martinsried, Medicover Genetics	0	17	0	4	0	0	5	9
Bioscientia Institut fuer Medizinische Diagnostik GmbH, Sonic Healthcare	0	47	1	3	0	0	4	8
Clinical Genetics and Genomics, Karolinska University Hospital	0	39	1	3	0	4	0	8
Department of Genetics, Rouen University Hospital, Normandy Center for Genomic and Personalized Medicine	0	34	1	7	0	0	0	8
Department of Pediatrics, Gifu University	0	8	0	8	0	0	0	8
GeneReviews	0	1890	1	0	0	1	6	8
Genetic Testing Center for Deafness, Department of Otolaryngology Head & Neck Surgery, Institute of Otolaryngology, Chinese PLA General Hospital	0	9	0	8	0	0	0	8
Genetics Research Center, University of Social Welfare and Rehabilitation Sciences	0	12	0	8	0	0	0	8
Precision Medicine Center, Zhengzhou University	0	5	0	7	0	0	1	8
Tartaglia Lab, Genetics and Rare Diseases Research Division, Bambino Gesu' Children's Hospital	0	2	0	8	0	0	0	8
Centre for Genomic Medicine, Manchester, Central Manchester University Hospitals	0	18	0	7	0	0	0	7
Centre for Inherited Metabolic Diseases, Karolinska University Hospital	0	27	0	6	0	1	0	7
Centre of Medical Genetics, University of Antwerp	0	9	0	6	0	0	1	7
ClinGen ACADVL Variant Curation Expert Panel, ClinGen	0	3	0	7	0	0	0	7
ClinGen Coagulation Factor Deficiency Variant Curation Expert Panel, Clingen	0	22	0	4	0	0	3	7
Clinical Biomedical Laboratory, Shriners Hospital For Children - Canada	0	45	0	7	0	0	0	7
Dunham Lab, University of Washington	0	7	0	7	0	0	0	7
Institute of Human Genetics, Cologne University	0	18	0	7	0	0	0	7
Molecular Diagnostic Laboratory for Inherited Cardiovascular Disease, Montreal Heart Institute	0	15	0	0	0	2	5	7
Pathology and Clinical Laboratory Medicine, King Fahad Medical City	0	30	0	7	0	0	0	7
ATS em Genética Clínica, Universidade Federal do Rio Grande do Sul	0	7	0	6	0	0	0	6
Advanced Center For Translational And Genetic Medicine, Ann & Robert H. Lurie Children's Hospital Of Chicago	0	1	0	4	0	0	2	6
Arcensus	0	5	0	5	0	0	1	6
BRCAlab, Lund University	0	28	3	0	1	0	2	6
CHEO Genetics Diagnostic Laboratory, Children's Hospital of Eastern Ontario	0	2	2	1	0	0	3	6
Centre for Clinical Genetics and Genomic Diagnostics, Zealand University Hospital	0	3	1	2	0	3	0	6
Centre for Population Genomics, CPG	0	26	0	5	0	0	1	6
ClinGen Cerebral Creatine Deficiency Syndromes Variant Curation Expert Panel, ClinGen	0	14	0	5	0	0	1	6
ClinGen Platelet Disorders Variant Curation Expert Panel, ClinGen	0	8	0	5	0	0	1	6
ClinGen von Willebrand Disease Variant Curation Expert Panel, ClinGen	0	15	0	5	0	0	1	6
Clinical Biochemistry Laboratory, Health Services Laboratory	0	28	0	5	1	0	0	6
Fundacion Hipercolesterolemia Familiar	0	15	0	4	0	0	2	6
Groupe Hospitalier Pitie Salpetriere, Uf Genomique Du Developpement, Assistance Publique Hopitaux de Paris Sorbonne Université	0	10	0	6	0	0	0	6
HLA Laboratory, Instituto Nacional de Enfermedades Respiratorias Ismael Cosio Villegas	0	1	0	0	1	1	4	6
Houlden Lab, UCL Institute of Neurology	0	1	0	4	0	0	2	6
Myelin Disorders Clinic-Children's Medical Center/Medical Genetics Lab-Tarbiat Modares University, Children's Medical Center, Pediatrics Center of Excellence,	0	0	0	2	0	0	4	6
Next Generation Genetic Polyclinic	0	17	1	5	0	0	0	6
Rare Kidney Stone Consortium and the Mayo Clinic Hyperoxaluria Center, Mayo Clinic	0	30	0	3	0	0	3	6
RettBASE	0	35	2	1	0	0	3	6
Service de Génétique Médicale, Centre Hospitalier Universitaire de Nice-Université Côte d'Azur	0	0	0	6	0	0	0	6
Sharing Clinical Reports Project (SCRP)	0	35	0	3	2	0	1	6
Baylor-Hopkins Center for Mendelian Genomics, Johns Hopkins University School of Medicine	0	44	0	3	0	0	2	5
Breast Cancer Information Core (BIC) (BRCA1)	0	30	0	0	0	0	5	5
Cambridge Genomics Laboratory, East Genomic Laboratory Hub, NHS Genomic Medicine Service	0	18	2	0	0	1	2	5
Cardiovascular Research Group, Instituto Nacional de Saude Doutor Ricardo Jorge	0	19	0	5	0	0	0	5
Center for Human Genetics, Inc, Center for Human Genetics, Inc	0	54	0	2	2	0	1	5
Center of Genomic medicine, Geneva, University Hospital of Geneva	0	35	1	3	0	0	1	5
Center of Human Genetics, Hôpital Erasme	0	34	0	5	0	0	0	5
Clinical Genetics Laboratory, Region Ostergotland	0	16	0	4	0	0	1	5
Clinical Laboratory Sciences Program (CLSP), King Saud bin Abdulaziz University for Health Sciences (KSAU-HS)	0	39	0	3	0	0	2	5
Department of Medical Genetics, Oslo University Hospital	0	35	0	5	0	0	0	5
Diagnostics Division, CENTRE FOR DNA FINGERPRINTING AND DIAGNOSTICS	0	2	0	5	0	0	0	5
Duke University Health System Sequencing Clinic, Duke University Health System	0	28	0	5	0	0	0	5
Elsea Laboratory, Baylor College of Medicine	0	19	0	2	0	0	3	5
Evidence-based Network for the Interpretation of Germline Mutant Alleles (ENIGMA)	0	40	0	0	3	0	2	5
Human Genetics Bochum, Ruhr University Bochum	0	9	0	5	0	0	0	5
Iberoamerican FH Network	0	10	0	3	0	0	2	5
Immunogenetics and Transplant Biology Service, University Hospital "Città della Salute e della Scienza di Torino"	0	14	0	4	0	1	0	5
Inherited Eye Disorders lab, UCL Institute of Ophthalmology	0	1	0	5	0	0	0	5
Inherited Neuropathy Consortium	0	0	0	0	0	0	5	5
Institute for Human Genetics, University Hospital Essen	0	2	0	3	0	0	2	5
Institute of Medical Genetics and Genomics, Sir Ganga Ram Hospital	0	27	0	5	0	0	0	5
Intergen Genetics and Rare Diseases Diagnosis Center	0	21	0	4	0	0	1	5
NHS Central & South Genomic Laboratory Hub	0	14	1	2	0	2	0	5
PXE International	0	16	0	4	0	0	1	5
Pars Genome Lab	0	3	0	1	2	0	2	5
Reproductive Endocrine Unit, Massachusetts General Hospital	0	1	2	2	0	0	1	5
Sharon lab, Hadassah-Hebrew University Medical Center	0	14	0	4	0	0	1	5
Sydney Children's Hospital, SCHN	0	2	0	2	0	0	3	5
Aleixo Muise Laboratory, Hospital For Sick Children	0	13	0	4	0	0	0	4
Beijing Key Laboratory for Genetic Research of Skeletal Deformity, Peking Union Medical College Hospital	0	12	0	4	0	0	0	4
Beijing Key Laboratry for Genetics of Birth Defects, Beijing Children's Hospital	0	13	0	4	0	0	0	4
Brunham Lab, Centre for Heart and Lung Innovation, University of British Columbia	0	12	0	4	0	0	0	4
Center for Human Genetics and Genomic Medicine, Uniklinik Rwth Aachen	0	6	0	1	0	0	3	4
Centre de Biologie Pathologie Génétique, Centre Hospitalier Universitaire de Lille	0	37	0	4	0	0	0	4
Clinical Genomics Labs, University Health Network	0	3	2	0	0	0	2	4
Clinical Molecular Genetics Laboratory, Johns Hopkins All Children's Hospital	0	62	0	4	0	0	0	4
Department of Medical Genetics, Sanjay Gandhi Post Graduate Institute of Medical Sciences	0	19	0	4	0	0	0	4
Department of Molecular Genetics, Istishari Arab Hospital	0	25	0	4	0	0	0	4
Department of Traditional Chinese Medicine, Fujian Provincial Hospital	0	5	0	1	0	3	1	4
Division of Medical Genetics, Department of Pediatrics, All India Institute of Medical Sciences, New Delhi	0	1	0	1	0	3	0	4
Eurofins-Biomnis	0	10	0	4	0	0	0	4
Genetics Department, Catlab	0	9	1	3	0	0	0	4
Genome Medicine, Institute for Basic Research in Developmental Disabilities	0	3	0	4	0	0	0	4
Genomics and Molecular Medicine Service, East Genomic Laboratory Hub, NHS Genomic Medicine Service	0	1	2	1	0	0	1	4
H3Africa Consortium	0	2	0	0	1	0	3	4
Institut de Recherche Interdisciplinaire en Biologie Humaine et Moleculaire, Universite Libre de Bruxelles	0	7	0	4	0	0	0	4
Institute for Genomic Medicine, Nationwide Children's Hospital	0	2	0	4	0	0	0	4
Laboratory of Genetic Epidemiology, Research Centre for Medical Genetics	0	8	0	3	0	0	1	4
Laboratory of molecular diagnosis of dyslipidemias, Università egli studi di Napoli Federico II	0	8	0	4	0	0	0	4
Medical Molecular Genetics, National Research Centre	0	5	0	3	0	0	1	4
Michigan Medical Genetics Laboratories, University of Michigan	0	8	0	0	3	0	1	4
Molecular Medicine, University of Pavia	0	2	0	3	0	0	1	4
Muscle and Diseases Team, Institut de Génétique et Biologie Moléculaire et Cellulaire	0	8	0	4	0	0	0	4
National Institute of Cancer Research, National Health Research Institutes	0	0	3	1	0	0	0	4
National Institute of Sensory Organs, National Hospital Organization Tokyo Medical Center	0	1	0	0	0	4	0	4
North West Genomic Laboratory Hub, Manchester University NHS Foundation Trust	0	24	0	4	0	0	0	4
Pediatric Immunology Service, The Chaim Sheba Medical Center at Tel HaShomer	0	0	0	3	0	0	1	4
Phosphorus, Inc.	0	4	0	1	3	0	0	4
Provincial Medical Genetics Program of British Columbia, University of British Columbia	0	20	0	4	0	0	0	4
Section for Clinical Neurogenetics, University of Tübingen	0	9	0	4	0	0	0	4
Sema4, Sema4	0	7	0	3	0	0	1	4
Service de Génétique Moléculaire, Hôpital Robert Debré	0	20	0	3	0	0	1	4
Stanford Center for Inherited Cardiovascular Disease, Stanford University	0	5	1	0	0	0	3	4
Wessex Regional Genetics Laboratory, Salisbury District Hospital	0	8	0	4	0	0	0	4
deCODE genetics, Amgen	0	7	0	3	0	0	1	4
CHU Sainte-Justine Research Center, University of Montreal	0	3	0	3	0	0	0	3
Care4Rare-SOLVE, CHEO	0	0	0	1	0	0	2	3
Cavalleri Lab, Royal College of Surgeons in Ireland	0	7	0	3	0	0	0	3
Cellular and Molecular Medicine Research Institute, Urmia University of Medical Sciences	0	5	0	2	0	0	1	3
Center for Genetic Medicine Research, Children's National Medical Center	0	0	0	3	0	0	0	3
Center for Medical Genetics and Molecular Medicine, Haukeland University Hospital	0	4	0	3	0	0	0	3
Center for Molecular Medicine, Children’s Hospital of Fudan University	0	16	0	3	0	0	0	3
Center of Excellence for Medical Genomics, Chulalongkorn University	0	5	0	3	0	0	0	3
ClinGen Familial Hypercholesterolemia Variant Curation Expert Panel	0	13	0	3	0	0	0	3
Clinical Genetics Laboratory, Department of Pathology, Netherlands Cancer Institute	0	4	1	0	0	0	2	3
Deafness Gene Diagnosis, Xijing Hospital	0	0	0	3	0	0	0	3
Department Of Human Genetics, Institute Of Clinical And Translational Research, Biomedical Research Center, Slovak Academy Of Sciences	0	12	0	3	0	0	0	3
Division Of Personalized Genomic Medicine, Columbia University Irving Medical Center	0	4	0	2	0	0	1	3
European Reference Network on Genetic Tumour Risk Syndromes (ERN-GENTURIS), i3s - Instituto de Investigação e Inovação em Saúde, University of Porto	0	6	0	0	0	0	3	3
Génétique des Maladies du Développement, Hospices Civils de Lyon	0	47	0	3	0	0	0	3
Institute of Tissue Medicine and Pathology, University of Bern	0	0	0	3	0	0	0	3
KardioGenetik, Herz- und Diabeteszentrum NRW	0	6	0	2	0	0	1	3
Laboratory of Medical Genetics, University of Torino	0	12	0	3	0	0	0	3
Laboratory of Molecular Genetics and Genomics, Rennes University Hospital	0	0	0	3	0	0	0	3
Laboratory of Molecular Genetics, CHU Rennes	0	2	0	3	0	0	0	3
Leeds Institute of Medical Research, University of Leeds	0	1	0	3	0	0	0	3
Leiden Open Variation Database	0	51	1	1	0	0	1	3
Lildballe Lab, Aarhus University Hospital	0	10	0	3	0	0	0	3
Molecular Diagnostics Laboratory, Catalan Institute of Oncology	0	2	2	1	0	0	0	3
Neurometabolic Diseases Laboratory, Bellvitge Biomedical Research Institute (IDIBELL)	0	21	0	2	0	0	1	3
PDHA1 Study Group, University Children’s Hospital, Paracelsus Medical University	0	16	0	3	0	0	0	3
Pathway Genomics	0	16	0	0	1	0	2	3
Royal Brompton Clinical Genetics And Genomics Laboratory, NHS South East Genomic Laboratory Hub	0	0	0	3	0	0	0	3
Saint-Louis Hospital, Assistance Publique Hôpitaux de Paris	0	0	2	1	0	0	0	3
Tumer Group, Copenhagen University Hospital, Rigshospitalet	0	6	0	3	0	0	0	3
University of British Columbia	0	0	0	2	0	0	1	3
Bioinformatics dept., Datar Cancer Genetics Limited, India	0	5	0	2	0	0	0	2
Bruce Budowle Laboratory, University of North Texas Health Science Center	0	2	0	0	0	2	0	2
Bruce Lefroy Centre, Murdoch Childrens Research Institute	0	2	0	2	0	0	0	2
CFTR2	0	80	0	0	1	0	1	2
Center for Human Genetics, University of Leuven	0	6	0	2	0	0	0	2
Center for Personalized Medicine, Children's Hospital Los Angeles	0	3	0	0	0	0	2	2
Center of Excellence in Genomics and Precision Dentistry, Faculty of Dentistry, Chulalongkorn University	0	5	0	2	0	0	0	2
Centre for Medical Genetics, Mumbai	0	0	0	0	0	0	2	2
Centro Dermatológico Federico Lleras Acosta, Hospital Universitario Centro Dermatológico Federico Lleras Acosta	0	0	0	0	0	1	1	2
Chinese Inherited Urolithiasis Consortium, The Affiliated Yantai Yuhuangding Hospital of Qingdao University	0	8	0	2	0	0	0	2
ClinGen Antibody Deficiencies Variant Curation Expert Panel, ClinGen	0	5	0	2	0	0	0	2
ClinGen Potassium Channel Arrhythmia Variant Curation Expert Panel, ClinGen	0	3	0	1	0	0	1	2
ClinGen TP53 Variant Curation Expert Panel, ClinGen	0	4	0	2	0	0	0	2
ClinGen VHL Variant Curation Expert Panel, ClinGen	0	1	0	0	0	0	2	2
Clinic of Clinical Immunology with Stem Cell Bank, Expert Centre for Rare Diseases - PID, University Hospital "Alexandrovska"	0	6	0	2	0	0	0	2
Clinical Genomic Analysis (GENYSIS) Core, University of North Carolina at Chapel Hill	0	1	0	1	0	0	1	2
Clinical Omics and Informatics (COIN) Unit, Neuroscience Institute, University Of Cape Town	0	16	0	2	0	0	0	2
Codex Genetics Limited	0	4	1	1	0	0	0	2
Consultorio y Laboratorio de Neurogenética, Hospital JM Ramos Mejia	0	2	0	0	0	0	2	2
Department of Internal Medicine, University of Texas Health Science Center at Houston	0	1	0	2	0	0	0	2
Department of Medical Genetics, University Hospital of North Norway	0	0	0	1	1	0	0	2
Department of Medical Genetics, University of Pecs	0	0	0	2	0	0	0	2
Department of Molecular Diagnostics, Institute of Oncology Ljubljana	0	15	1	1	0	0	0	2
Department of Paediatrics and Adolescent Medicine, The University of Hong Kong	0	3	0	1	0	0	1	2
Department of Paediatrics at Addenbrookes, Cambridge University Hospitals NHS Foundation Trust (UK)	0	6	0	1	0	0	1	2
Department of Pediatric Genetics, Istanbul University - Cerrahpasa	0	3	0	1	0	0	1	2
Department of Pediatrics, Taizhou Central Hospital, Taizhou University Hospital	0	7	0	2	0	0	0	2
Department of Pediatrics, Union Hospital, Tongji Medical College, Huazhong University of Science and Technology	0	0	0	1	0	0	1	2
Diagnostics Centre, Carl Von Ossietzky University Oldenburg	0	6	0	2	0	0	0	2
Difficult and Complicated Liver Diseases and Artificial Liver Center, Beijing You An Hospital, Capital Medical University	0	0	0	0	0	2	0	2
Division of Genetic & Genomic Pathology, Hong Kong Children's Hospital	0	9	0	2	0	0	0	2
FAHD UNIT, Department of Genetics, King Faisal Specialist Hospital and Research Centre	0	1	0	2	0	0	0	2
Geisinger Autism and Developmental Medicine Institute, Geisinger Health System	0	4	1	1	0	0	1	2
Gene Discovery Core-Manton Center, Boston Children's Hospital	0	2	0	1	0	0	1	2
Genetic Diagnostic Laboratory, University of Pennsylvania School of Medicine	0	13	0	2	0	0	0	2
Genetics Department, University Hospital of Toulouse	0	3	0	2	0	0	0	2
Genetics Institute, Tel Aviv Sourasky Medical Center	0	2	0	1	0	0	1	2
Genetics Laboratory, UDIAT-Centre Diagnòstic, Hospital Universitari Parc Tauli	0	14	0	2	0	0	0	2
Genetics and Prenatal Diagnosis Center, The First Affiliated Hospital of Zhengzhou University	0	6	0	2	0	0	0	2
Genome Diagnostics Laboratory, The Hospital for Sick Children	0	24	0	1	0	0	1	2
GenomeConnect - Simons Searchlight	0	14	0	2	0	0	0	2
Genomics And Bioinformatics Analysis Resource, Columbia University	0	14	0	1	0	0	1	2
Genomics Facility, Ludwig-Maximilians-Universität München	0	5	0	2	0	0	0	2
Gleeson Lab, University of California San Diego - Department of Neuroscience	0	0	0	2	0	0	0	2
Hacettepe Genetic Diseases Diagnosis Center, Hacettepe University Faculty of Medicine	0	1	0	2	0	0	0	2
Human Genome Lab, NIMHANS, National Institute of Mental Health and Neuro Sciences	0	5	0	2	0	0	0	2
Institute for Integrative and Experimental Genomics, University of Luebeck	0	0	0	2	0	0	0	2
Institute for Medical Immunology, Charité - Universitätsmedizin Berlin	0	0	0	0	0	1	1	2
Institute of Human Genetics, FAU Erlangen, Friedrich-Alexander-Universität Erlangen-Nürnberg	0	29	1	1	0	0	0	2
Key Laboratory of Carcinogenesis and Cancer Invasion, Central South University	0	0	0	2	0	0	0	2
King Laboratory, University of Washington	0	10	1	1	0	0	0	2
Laan Lab, Human Genetics Research Group, University of Tartu	0	4	0	2	0	0	0	2
Lab De Baere, Eye and Developmental Genetics Lab, Ghent University	0	1	1	2	0	0	0	2
Laboratory Cellgenetics, GMDL Cellgenetics	0	4	0	2	0	0	0	2
Laboratory of Dr. Barbara Vona, University Medical Center Göttingen	0	2	0	2	0	0	0	2
Laboratory of Molecular Genetics, National Medical Research Center for Therapy and Preventive Medicine	0	0	0	1	0	0	1	2
Laboratory of Otorhinolaryngology, Head and Neck Surgery, Seoul National University Hospital	0	1	0	2	0	0	0	2
Medical Genetics Summaries	0	5	0	0	0	2	0	2
Medical Genetics Unit, University of L'Aquila	0	0	0	2	0	0	0	2
Medical Genetics, Medical University Pleven	0	2	0	0	0	2	0	2
Molecular Genetics and NGS Laboratory, Hospital Fundacion Valle Del Lili	0	10	0	1	0	0	1	2
Molecular Medicine for Neurodegenerative and Neuromuscular Diseases Unit, IRCCS Fondazione Stella Maris	0	20	0	2	0	0	0	2
Newman Lab, University of Manchester	0	0	0	2	0	0	0	2
Ophthalmo-Genetics Lab, Instituto de Oftalmologia Conde de Valenciana	0	2	0	2	0	0	0	2
Ozbek Human Genetics Laboratory, Izmir Biomedicine and Genome Center	0	0	0	1	0	0	1	2
Pediatric Department, Peking University First Hospital	0	1	0	2	0	0	0	2
Pediatric Genetics Clinic, Sheba Medical Center	0	15	0	2	0	0	0	2
Pediatric Metabolic Diseases, Hacettepe University	0	5	0	2	0	0	0	2
Petrovsky National Research Centre of Surgery, The Federal Agency for Scientific Organizations	0	4	0	2	0	0	0	2
Practice for Gait Abnormalities, David Pomarino, Competency Network Toe Walking C/o Practice Pomarino	0	0	0	1	0	0	1	2
Rare Disease Group, Clinical Genetics, Karolinska Institutet	0	2	0	1	0	0	2	2
Reproductive Development, Murdoch Childrens Research Institute	0	2	0	2	0	0	0	2
Royal Medical Services, Bahrain Defence Force Hospital	0	1	0	2	0	0	0	2
State Key Laboratory of Reproductive Medicine and Offspring Health, Nanjing Medical University	0	0	0	1	0	0	1	2
Valdecilla Biomedical Research Institute, Instituto de Salud Carlos III	0	0	0	2	0	0	0	2
Watson Genetic Lab	0	0	0	2	0	0	0	2
Academic Department of Medical Genetics, University of Cambridge	0	0	0	1	0	0	0	1
Agnes Ginges Centre for Molecular Cardiology, Centenary Institute	0	15	0	0	0	0	1	1
Al Jawhara Center for Molecular Medicine, Arabian Gulf University	0	0	0	0	0	0	1	1
Allergy Immunology Laboratory, Postgraduate Institute of Medical Education and Research, Chandigarh	0	0	0	1	0	0	0	1
Amrita Institute of Medical Sciences and Research Centre, Amrita Vishwa Vidyapeetham	0	0	0	1	0	0	0	1
Applied Translational Genetics Group, University of Auckland	0	1	0	1	0	0	0	1
Autoinflammatory diseases unit, CHU de Montpellier	0	5	0	1	0	0	0	1
Biochemistry Department, Nishtar Medical University	0	0	0	1	0	0	0	1
Biochemistry Laboratory of CDMU, Chengde Medical University	0	4	0	1	0	0	0	1
Bioinformatics Institute, Agency for Science, Technology and Research	0	0	0	0	0	1	0	1
Bioinformatics Unit, Institut Pasteur de Montevideo	0	1	0	1	0	0	0	1
Biomedical Genomics and Oncogenetics Laboratory, Institut Pasteur de Tunis, University Tunis El Manar	0	1	0	0	0	0	1	1
Bondeson Group, Uppsala University	0	0	0	1	0	0	0	1
Breast Cancer Information Core (BIC) (BRCA2)	0	11	0	0	0	0	1	1
CGPP - Center for Predictive and Preventive Genetics, IBMC - Institute for Cell and Molecular Biology	0	0	0	1	0	0	0	1
CIViC Knowledgebase, Washington University School of Medicine	0	1	1	0	0	0	0	1
CMT Laboratory, Bogazici University	0	5	0	1	0	0	0	1
CZECANCA consortium	0	2	1	0	0	0	0	1
Cancer Diagnostics Division, Gene Solutions	0	0	0	1	0	0	0	1
Center for Advanced Molecular Diagnostics, Cytogenetics Laboratory, Brigham and Women's Hospital	0	0	0	0	0	1	0	1
Center of Excellence in Clinical Pharmacokinetics and Pharmacogenomics, Faculty of Medicine, Chulalongkorn University	0	0	0	0	0	1	0	1
Center of Medical Genetics, Central South University	0	0	0	1	0	0	0	1
Centre for Arab Genomic Studies, Sheikh Hamdan Award for Medical Sciences	0	3	0	1	0	0	0	1
Centre for Human Genetics	0	1	0	1	0	0	0	1
Centre for Translational Omics - GOSgene, University College London	0	0	0	1	0	0	0	1
Centro Nacional de Genética Medica, Administración Nacional de Laboratorios e Institutos de Salud (ANLIS) “Dr. Carlos G Malbrán”	0	3	0	1	0	0	0	1
Chan Lab, Boston Children's Hospital	0	0	0	1	0	0	0	1
Chao Lab, Baylor College of Medicine, Texas Children's Hospital	0	0	0	1	0	0	0	1
Chaochun Lab, Department of Endocrinology, Children's Hospital, Zhejiang University School Of Medicine	0	0	0	1	0	0	0	1
Children's Medical Research Institute, University of Sydney	0	0	0	1	0	0	0	1
Cipher Gene Genetics Laboratory, Cipher Gene, Inc	0	0	0	1	0	0	0	1
Cirak Lab, University Hospital Cologne	0	1	0	1	0	0	0	1
Claritas Genomics	0	8	0	1	0	0	0	1
ClinGen Hearing Loss Variant Curation Expert Panel	0	1	0	0	0	0	1	1
ClinGen Lysosomal Storage Disorder Variant Curation Expert Panel	0	7	0	1	0	0	0	1
ClinGen Mitochondrial Disease Nuclear and Mitochondrial Variant Curation Expert Panel, ClinGen	0	4	0	0	0	0	1	1
ClinGen Rett and Angelman-like Disorders Variant Curation Expert Panel	0	11	0	0	0	0	1	1
ClinGen X-linked Inherited Retinal Disease Variant Curation Expert Panel, ClinGen	0	4	0	0	0	0	1	1
Clinical Genetics Laboratory, Harran University	0	0	0	1	0	0	0	1
Clinical Immunology, Karolinska University Hospital	0	0	0	1	0	0	0	1
Coban-Akdemir Lab, University of Texas Health Science Center	0	0	0	0	0	0	1	1
Cole/Wambach Lab, Washington University in St. Louis	0	5	0	1	0	0	0	1
Comprehensive Medical Genetic Center, Shiraz University of Medical Sciences	0	3	0	1	0	0	0	1
Consortium of Investigators of Modifiers of BRCA1/2 (CIMBA), c/o University of Cambridge	0	40	0	0	0	0	1	1
Cytoplasmic Inheritance Laboratory, Institute of Genetics and Cytology	0	0	0	1	0	0	0	1
Department of Biotechnology and Genetic Engineering, Kohat University of Science and Technology	0	2	0	1	0	0	0	1
Department of Dermatology, The Second Affiliated Hospital of Nanchang University	0	0	0	1	0	0	0	1
Department of Endocrinology, The Fourth Affiliated Hospital of Guangzhou Medical University	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 Human Genetics, University Hospital Magdeburg	0	2	0	0	1	0	0	1
Department of Maternal-Fetal Biology, National Research Institute for Child Health and Development	0	4	0	1	0	0	0	1
Department of Medical and Surgical Sciences, University of Bologna	0	0	0	1	0	0	0	1
Department of Molecular and Human Genetics, Baylor College of Medicine	0	10	0	0	0	0	1	1
Department of Neurology lab, Tongji Hospital, Tongji Hospital of Tongji Medical College, Huazhong University of Science and Technology	0	0	0	0	0	1	0	1
Department of Neurology, Affiliated Hospital of Shandong Second Medical University	0	0	0	1	0	0	0	1
Department of Neurology, Children’s Hospital of Chongqing Medical University	0	0	0	1	0	0	0	1
Department of Neurology, Qilu Hospital of Shandong University	0	2	0	0	0	0	1	1
Department of Neuroscience, King Faisal Specialist Hospital	0	0	0	0	0	0	1	1
Department of Ophthalmology, Flinders Medical Centre	0	0	0	0	0	0	1	1
Department of Ophthalmology, Shanghai Jiao Tong University School of Medicine, Shanghai General Hospital	0	0	0	0	0	0	1	1
Department of Orthopeadics and Traumatology, Nanfang Hospital	0	0	0	0	0	1	0	1
Department of Paediatric Surgery, The Canberra Hospital	0	0	0	1	0	0	0	1
Department of Pediatrics, Affiliated Hospital of Zunyi Medical College, Zunyi Medical College	0	0	0	1	0	0	0	1
Department of Pediatrics, Division of Pediatric Genetics, Necmettin Erbakan University Faculty of Medicine	0	0	0	1	0	0	0	1
Department of Pediatrics, Jichi Medical University	0	1	0	1	0	0	0	1
Department of Pediatrics, Memorial Sloan Kettering Cancer Center	0	11	1	0	0	0	0	1
Department of Prenatal Diagnosis, Henan Provincial People’s Hospital	0	0	0	0	0	0	1	1
Department of Prosthodontics, Peking University School and Hospital of Stomatology	0	4	0	0	0	1	0	1
Department of Rehabilitation Medicine, Incheon St. Mary’s Hospital, College of Medicine, The Catholic University of Korea	0	11	0	1	0	0	0	1
Department of Second Dental Center, Ninth People’s Hospital, Shanghai Jiao Tong University School of Medicine	0	2	0	0	0	0	1	1
Department of Transfusion Medicine and Hemostaseology, University Hospital Erlangen	0	0	0	1	0	0	0	1
Department of Vascular Biology, Beijing Anzhen Hospital	0	0	0	1	0	0	0	1
Dept Of Ophthalmology, Nagoya University	0	1	0	0	0	0	1	1
Dept of Genetics, Assistance Publique-Hôpitaux de Paris (APHP) - R DEBRE University Hospital	0	3	0	1	0	0	0	1
Developmental and Behavioral Pediatrics, First Affiliated Hospital of Jilin University	0	6	0	1	0	0	0	1
Diagnostic Genetics, Severance Hospital, Yonsei University College of Medicine	0	2	0	1	0	0	0	1
Donald Williams Parsons Laboratory, Baylor College of Medicine	0	4	0	0	0	1	0	1
Dr. Guy Rouleau's laboratory, McGill University	0	0	1	0	0	0	0	1
Dr. Muhammad Imran Shabbir Lab, International Islamic University Islamabad	0	1	0	1	0	0	0	1
Dr.Nikuei Genetic Center	0	7	0	0	0	0	1	1
Endocrinology Clinic, Seth G.S. Medical College	0	0	0	1	0	0	0	1
European Hospital Georges Pompidou Genetics Department, Assistance Publique - Hôpitaux de Paris AP-HP	0	3	0	1	0	0	0	1
Experimental Epileptology, AG Lerche, Hertie Institute for Clinical Brain Research	0	0	0	1	0	0	0	1
Faculty of Health Sciences, Beirut Arab University	0	1	0	0	0	0	1	1
Faculty of Pharmacy, University of Ljubljana	0	0	0	1	0	0	0	1
FirmaLab, FirmaLab	0	3	0	0	0	0	1	1
Foulkes Cancer Genetics LDI, Lady Davis Institute for Medical Research	0	0	1	0	0	0	0	1
Gahl Group, Medical Genetics Branch, National Human Genome Research Institute, National Institutes of Health	0	0	0	1	0	0	0	1
Garcia Pulmonary Genetics Research Laboratory, Columbia University Irving Medical Center	0	0	0	1	0	0	0	1
Gastroenterology Department, Qilu Hospital of Shandong University	0	0	0	1	0	0	0	1
Geisinger Clinic, Geisinger Health System	0	3	0	1	0	0	0	1
GeneKor MSA	0	2	0	1	0	0	0	1
Genesis Genomics	0	14	0	1	0	0	0	1
Genetic Diseases Diagnostic Center, Koc University Hospital	0	1	0	1	0	0	0	1
Genetic Foundation of Khorasan Razavi (GFKR)	0	7	0	1	0	0	0	1
Genetic Medico-Diagnostic Laboratory Genica	0	0	0	1	0	0	0	1
Genetics Service, Department of Paediatrics, KK Women's and Children's Hospital	0	0	0	1	0	0	0	1
Genetics and Metabolism Laboratory, Children Hospital Zhejiang University School of Medicine	0	0	0	1	0	0	0	1
Genome Sciences Centre, British Columbia Cancer Agency	0	0	0	1	0	0	0	1
Genomic Diagnostics Laboratory, National Institute of Medical Genomics	0	1	0	1	0	0	0	1
Genomic Medicine, Universita Cattolica del Sacro Cuore	0	1	0	0	0	0	1	1
GreenArray Genomic Research & Solutions of Accurate Diagnostic Private Limited	0	1	0	0	1	0	0	1
Hereditary Research Laboratory, Bethlehem University	0	7	0	1	0	0	0	1
Human Genetic Laboratory, University of Liege	0	0	0	0	0	0	1	1
Human Genetics Section, Sidra Medicine	0	1	0	1	0	0	0	1
Human Genetics, University of Luebeck	0	0	0	1	0	0	0	1
Human Genomics Unit, Institute for molecular medicine Finland (FIMM)	0	0	0	0	0	0	1	1
IRCCS Fondazione Stella Maris, University of Pisa	0	0	0	1	0	0	0	1
ITMI	0	13	0	1	0	0	0	1
IU Genetic Testing Laboratories, Indiana University School of Medicine	0	0	0	1	0	0	0	1
Imagene.me medical diagnostic laboratory, IMAGENE.ME SA	0	33	0	0	0	0	1	1
Imperial College London Diabetes Centre, Mubadala Healthcare	0	1	0	0	0	1	1	1
Institute for Biomedicine, Eurac Research	0	0	0	1	0	0	0	1
Institute of Cellular and Molecular Medicine, Copenhagen University	0	0	0	1	0	0	0	1
Institute of Clinical Molecular Biology, Kiel University	0	0	0	0	0	0	1	1
Institute of Experimental Endocrinology, Slovak Academy of Sciences	0	1	0	0	0	0	1	1
Institute of Human Genetics, Medical University Innsbruck	0	13	0	1	0	0	0	1
Institute of Human Genetics, Univ. Regensburg, Univ. Regensburg	0	4	0	1	0	0	0	1
Institute of Human Genetics, University Medical Center Hamburg-Eppendorf	0	1	0	1	0	0	0	1
Institute of Human Genetics, University of Goettingen	0	0	0	0	0	0	1	1
Institute of Human Genetics, University of Ulm	0	7	0	1	0	0	0	1
Institute of Reproductive Genetics, University of Münster	0	1	1	0	0	0	0	1
Istanbul Faculty of Medicine, Istanbul University	0	4	0	0	0	0	1	1
KTest Genetics, KTest	0	4	0	1	0	0	0	1
Keimyung University Dongsan Hospital, Keimyung University School of Medicine	0	1	0	1	0	0	0	1
Klinisk genetik och genomik Research, Gothenburg University	0	0	0	1	0	0	0	1
Laboratorio de Analisis Clinicos, Hospital Valle de Los Pedroches	0	0	0	1	0	0	0	1
Laboratorio de Genética Hospitales Universitarios Virgen de las Nieves y Clínico San Cecilio (Granada, Spain), Hospitales Universitarios Virgen de las Nieves y Clínico San Cecilio (Granada, Spain)	0	0	0	1	0	0	0	1
Laboratorio de Genética, Hospital Universitario Reina Sofía	0	0	0	1	0	0	0	1
Laboratory for Molecular Genetic Diagnostic of Neurological Diseases, University of Belgrade, School of Medicine	0	2	0	0	0	0	1	1
Laboratory of Functional Genomics, Research Centre for Medical Genetics	0	3	0	1	0	0	0	1
Laboratory of Gastroenterology and Hepatology, Radboud University Medical Center	0	0	0	0	0	0	1	1
Laboratory of Genetics in Ophthalmology, Institut Imagine	0	46	0	1	0	0	0	1
Laboratory of Hereditary Immune Disorders, Research Centre for Medical Genetics	0	2	0	1	0	0	0	1
Laboratory of Human Genetics, Universidade de São Paulo	0	9	0	1	0	0	0	1
Laboratory of Inherited Metabolic Diseases, Research centre for medical genetics	0	0	0	1	0	0	0	1
Laboratory of Prof. Karen Avraham, Tel Aviv University	0	10	0	1	0	0	0	1
Leeds Amelogenesis Imperfecta Research Group, University of Leeds	0	2	0	1	0	0	0	1
MK Azim Lab, Mohammad Ali Jinnah University	0	0	0	0	0	0	1	1
MVZ Praenatalmedizin und Genetik Nuernberg	0	1	0	1	0	0	0	1
Marseille Medical Genetics, U1251, Aix Marseille University, Inserm	0	0	0	1	0	0	0	1
Medgenome Labs Pvt Ltd	0	4	0	1	0	0	0	1
Medical Cytogenetics and Molecular Genetics Laboratory, IRCCS Istituto Auxologico Italiano	0	0	0	0	0	0	1	1
Medical Genetics Center, Maternal and Child Health Hospital of Hubei Province	0	10	0	1	0	0	0	1
Medical Genetics Department, Assistance Publique Hopitaux de Marseille	0	0	0	1	0	0	0	1
Medical Genetics Lab, Policlinico S. Orsola.Malpighi	0	1	0	1	0	0	1	1
Medical Genetics Laboratory, Niloo Shiraz Laboratory	0	0	0	0	0	0	1	1
Medical Genetics Laboratory, Tarbiat Modares University	0	1	0	1	0	0	0	1
Medical Genetics, Christian Medical College	0	0	0	1	0	0	0	1
Medical Genetics, Haseki Training and Research Hospital	0	0	0	1	0	0	0	1
Medical Genetics, Taibah University College of Applied Medical Sciences	0	0	0	0	0	0	1	1
Medical Genetics, University of Parma	0	7	0	0	0	0	1	1
Molecular Biology Laboratory, Department of Zoology, Quaid-i-azam University	0	1	0	1	0	0	0	1
Molecular Dermatology Lab, Tel Aviv Sourasky Medical Center	0	0	0	0	0	0	1	1
Molecular Diagnostics Laboratory, Fox Chase Cancer Center - Temple Health	0	0	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 Lab, CHRU Brest	0	16	0	1	0	0	0	1
Molecular Genetics Laboratory, Biobizkaia Health Research Institute	0	7	0	1	0	0	0	1
Molecular Genetics Laboratory, Children's Mercy Hospital and Clinics	0	6	0	1	0	0	0	1
Molecular Genetics Laboratory, Edith Wolfson Medical Center	0	0	0	1	0	0	0	1
Molecular Genetics Laboratory, Institute for Ophthalmic Research	0	12	0	0	0	0	1	1
Molecular Genetics Laboratory, Motol Hospital	0	0	0	1	0	0	0	1
Molecular Genetics Pathology Laboratory, University Of Arkansas for Medical Sciences	0	1	0	0	0	0	1	1
Molecular Genetics of Inherited Kidney Disorders Laboratory, Garvan Institute of Medical Research	0	0	0	0	0	1	0	1
Molecular Pathology Diagnostics Labratory, University of Iowa Hospitals & Clinics	0	0	0	1	0	0	0	1
Molecular Pathology Research Laboratory, SA Pathology	0	4	0	1	0	0	0	1
Molecular and Medical Genetics Group, King's College London	0	2	0	1	0	0	0	1
Muhas Genetics Laboratory, Muhimbili University of Health and Allied Sciences	0	0	0	1	0	0	0	1
Myelin Disorders Clinic, Children's Medical Center	0	0	0	1	0	0	0	1
NEI Ophthalmic Genomics Laboratory, National Institutes of Health	0	3	0	1	0	0	0	1
National Institute of Allergy and Infectious Diseases - Centralized Sequencing Program, National Institutes of Health	0	4	0	1	0	0	0	1
National Institute of Immunohaematology, Indian Council of Medical Research	0	0	0	1	0	0	0	1
National Newborn Screening Laboratory, Hospital Nacional de Niños	0	1	0	1	0	0	0	1
Neurogenetic Laboratory, Second Faculty of Medicine, Charles University	0	1	0	1	0	0	0	1
Neurogenetics Laboratory - MEYER, AOU Meyer	0	2	0	1	0	0	0	1
Neurology Department of Pediatrics, The Third Affiliated Hospital of Zhengzhou University	0	0	0	0	0	0	1	1
Neurology Department, Peking University First Hospital	0	6	0	0	1	0	0	1
Neurology Department, Shenzhen Children's Hospital	0	2	0	1	0	0	0	1
Neuromuscular Department, Shariati Hospital, Tehran University of Medical Sciences	0	4	0	1	0	0	0	1
New Leaf Center	0	1	0	0	1	0	0	1
Northcott Neuroscience Laboratory, ANZAC Research Institute	0	2	0	0	0	0	1	1
Ophthalmic Genetics Group, Institute of Molecular and Clinical Ophthalmology Basel	0	4	0	1	0	0	0	1
Ophthalmic Genetics and Bioinformatics Laboratory, Shanghai Puxi and Light Genomics Technology Co., Ltd.	0	0	0	1	0	0	0	1
Otogenetics	0	20	1	0	0	0	0	1
Oxford Medical Genetics Laboratories, Oxford University Hospitals NHS Foundation Trust	0	8	0	1	0	0	0	1
PG23_Medical Genetics Lab, ASST Papa Giovanni XXIII	0	0	0	1	0	0	0	1
PROSPAX: an integrated multimodal progression chart in spastic ataxias, Center for Neurology; Hertie-Institute for Clinical Brain Research	0	13	0	1	0	0	0	1
Payam Genetics Center, General Welfare Department of North Khorasan Province	0	8	0	1	0	0	0	1
Pediatric Department, Xiangya Hospital, Central South University	0	9	0	1	0	0	0	1
Pediatric Genomics Discovery Program, Yale University	0	0	0	1	0	0	0	1
Pediatric Intensive Care Unit, Hebei Children’s Hospital	0	0	0	1	0	0	0	1
Pediatric Neurology, Ankara Etlik City Hospital, Health Sciences University	0	0	0	1	0	0	0	1
Pharmacogenomics Lab, Chungbuk National University	0	1	0	0	0	1	0	1
Pharmacogenomics/Precision medicine lab, University of Petra	0	0	0	0	0	1	0	1
Pharmacy Department, Siriraj Hospital, Mahidol University	0	0	0	0	0	1	0	1
Pharmacy Practice Department, Chulalongkorn University	0	0	0	0	0	1	0	1
Precision Medical Center, Wuhan Children's Hospital	0	0	0	1	0	0	0	1
Prof. Brien Holden Eye Research Center, Hyderabad Eye Research Foundation, L V Prasad Eye Institute	0	0	0	1	0	0	0	1
Randwick Genomics Laboratory, Prince of Wales Hospital Sydney, Australia, New South Wales Health Pathology	0	3	0	1	0	0	0	1
Rare Disease Group, University of Exeter	0	0	0	1	0	0	0	1
Rare Genetic Disease Lab, Dept of Zoology, Government Postgraduate College Dargai Malakand, Higher Education Govt. of Khyber Pakhtunkhwa	0	1	0	1	0	0	0	1
Reutter Lab, Institute of Human Genetics, University Hospital Bonn	0	0	0	0	0	0	1	1
Richard Lifton Laboratory, Yale University School of Medicine	0	0	0	1	0	0	0	1
Sadaf Naz Human Genetics Laboratory, University of the Punjab	0	1	0	0	0	0	1	1
Savagenome Genetic Health Clinic, Tarbiat Modares University	0	0	0	0	0	0	1	1
Seattle Children's Hospital Molecular Genetics Laboratory, Seattle Children's Hospital	0	25	0	1	0	0	0	1
Serv. Biochemistry and Molecular genetics, Hospital Clinic de Barcelona, Hospital Clínic de Barcelona	0	1	0	1	0	0	0	1
Service de Biologie Medicale, CIUSSS du Saguenay-Lac-Saint-Jean	0	0	0	1	0	0	0	1
Service of Pediatric Gastrohepatology and Metabolic Diseases, University of Medicine of Tirana	0	3	0	1	0	0	0	1
Servicio Canario de Salud, Hospital Universitario Nuestra Sra. de Candelaria	0	2	0	1	0	0	0	1
Sfax Medical Genetics Laboratory, Laboratoire Ksentini	0	0	0	1	0	0	0	1
Shanghai Key Laboratory of Orbital Diseases and Ocular Oncology, Ninth People's Hospital, Shanghai Jiao Tong University School of Medicine	0	0	0	1	0	0	0	1
Shenzhen Institute of Pediatrics, Shenzhen Children's Hospital	0	0	0	1	0	0	0	1
Suzhou Clinical Center for Rare Diseases in Children, Children's Hospital of Soochow University	0	1	0	1	0	0	0	1
Swedish Neurofibromatosis Center, Swedish Medical Center	0	0	0	1	0	0	0	1
TIDEX, University of British Columbia	0	3	0	1	0	0	0	1
Tgen's Center for Rare Childhood Disorders, Translational Genomics Research Institute (tgen)	0	1	0	1	0	0	0	1
The Danek Gertner Institute of Human Genetics, Sheba Medical Center	0	0	0	1	0	0	0	1
The Genetics Institute, Rambam Health Care Campus	0	2	0	1	0	0	0	1
UMR-S1161, Institut national de la santé et de la recherche médicale	0	0	0	1	0	0	0	1
Umrani?ye Training and Research Hospital	0	0	0	0	0	0	1	1
UniProtKB/Swiss-Prot	0	85	0	1	0	0	0	1
Unité de Différenciation Epithéliale et Auto-Immunité Rhumatoïde, INSERM - Université Paul Sabatier	0	0	0	1	0	0	0	1
University of Iowa Renal Genetics Clinic, University of Iowa	0	0	0	0	0	0	1	1
University of Washington Department of Laboratory Medicine, University of Washington	0	11	0	1	0	0	0	1
Vavilov Institute of General Genetics RAS, Laboratory of Evolutional Genomics	0	0	0	0	0	1	0	1
Wagner Lab, Nationwide Children's Hospital	0	0	1	0	0	0	0	1
Wang Lab, The Lab for Reproductive Genetics, Fudan University	0	2	0	1	0	0	0	1
Wanghongyan lab, Fudan University	0	0	0	1	0	0	0	1
Wendy Chung Laboratory, Boston Children's Hospital	0	3	0	1	0	0	0	1
Wilkie Group, Clinical Genetics Lab, WIMM, University of Oxford	0	0	0	1	0	0	0	1
iDNA Genomics	0	1	0	1	0	0	0	1

All variants with conflicting interpretations #

HGVS	dbSNP	gnomAD frequency
NM_016335.6(PRODH):c.1562= (p.Arg521=)	rs450046	0.99729
NM_005866.4(SIGMAR1):c.*31A>G	rs4879809	0.98825
NM_016511.4(CLEC1A):c.77G>C (p.Gly26Ala)	rs2306894	0.85307
NM_020975.6(RET):c.73+9277T>C	rs2435357	0.79636
NM_001994.3(F13B):c.344G>A (p.Arg115His)	rs6003	0.75658
NM_000777.5(CYP3A5):c.219-237A>G	rs776746	0.72671
NM_002185.5(IL7R):c.412G>A (p.Val138Ile)	rs1494555	0.72524
NM_000525.4(KCNJ11):c.67A>G (p.Lys23Glu)	rs5219	0.72048
NC_000001.11:g.206773062T>G	rs1800872	0.69428
NM_002185.5(IL7R):c.197T>C (p.Ile66Thr)	rs1494558	0.68368
NM_001486.4(GCKR):c.1337T>C (p.Leu446Pro)	rs1260326	0.67353
NM_000505.4(F12):c.-4T>C	rs1801020	0.66266
NM_000101.4(CYBA):c.214T>C (p.Tyr72His)	rs4673	0.64973
NM_006005.3(WFS1):c.713-1075C>G	rs6446482	0.62564
NM_000660.7(TGFB1):c.29C>T (p.Pro10Leu)	rs1800470	0.60129
NM_000078.3(CETP):c.1264G>A (p.Val422Ile)	rs5882	0.59015
NM_000892.5(KLKB1):c.428G>A (p.Ser143Asn)	rs3733402	0.58780
NM_001348946.2(ABCB1):c.3435T>C (p.Ile1145=)	rs1045642	0.57896
NM_001002255.2(SUMO4):c.163G>A (p.Val55Met)	rs237025	0.57192
NM_001072.4(UGT1A6):c.862-10021T>G	rs4124874	0.55614
NM_199161.5(SAA1):c.209C>T (p.Ala70Val)	rs1136743	0.54798
NM_000796.6(DRD3):c.25G>A (p.Gly9Ser)	rs6280	0.54577
NM_176817.5(TAS2R38):c.785= (p.Ala262=)	rs1726866	0.53241
NM_001136219.3(FCGR2A):c.500A>G (p.His167Arg)	rs1801274	0.50935
NM_000069.2(CACNA1S):c.-476G>A	rs2281845	0.50680
NM_003263.4(TLR1):c.1805G>T (p.Ser602Ile)	rs5743618	0.50543
NC_000005.10:g.1296371A>G	rs2735940	0.49546
NM_000579.4(CCR5):c.-301+246A>G	rs1799987	0.49151
NM_016816.4(OAS1):c.484G>A (p.Gly162Ser)	rs1131454	0.47874
NM_000636.4(SOD2):c.47T>C (p.Val16Ala)	rs4880	0.47242
NM_000418.4(IL4R):c.223A>G (p.Ile75Val)	rs1805010	0.45666
NM_000511.6(FUT2):c.461G>A (p.Trp154Ter)	rs601338	0.45281
NM_002454.3(MTRR):c.66A>G (p.Ile22Met)	rs1801394	0.44938
NM_005223.4(DNASE1):c.731G>A (p.Arg244Gln)	rs1053874	0.43995
NM_002075.4(GNB3):c.825C>T (p.Ser275=)	rs5443	0.43936
NM_000754.4(COMT):c.472G>A (p.Val158Met)	rs4680	0.43847
NM_007202.4(AKAP10):c.1936A>G (p.Ile646Val)	rs203462	0.43766
NM_030803.7(ATG16L1):c.898A>G (p.Thr300Ala)	rs2241880	0.43552
NM_003263.4(TLR1):c.743A>G (p.Asn248Ser)	rs4833095	0.43490
NM_000416.3(IFNGR1):c.-56T>C	rs2234711	0.42896
NM_000744.7(CHRNA4):c.1659G>A (p.Ala553=)	rs1044397	0.40957
NM_002087.4(GRN):c.*78C>T	rs5848	0.40636
NM_000744.7(CHRNA4):c.1629C>T (p.Ser543=)	rs1044396	0.40465
NM_000186.4(CFH):c.184G>A (p.Val62Ile)	rs800292	0.40446
NM_000419.5(ITGA2B):c.2621T>G (p.Ile874Ser)	rs5911	0.38943
NM_053056.3(CCND1):c.723G>A (p.Pro241=)	rs9344	0.38311
NM_005956.4(MTHFD1):c.1958G>A (p.Arg653Gln)	rs2236225	0.38175
NM_001104.4(ACTN3):c.1729C>T (p.Arg577Ter)	rs1815739	0.36260
NC_000002.12:g.203874196G>A	rs3087243	0.36123
NM_001742.4(CALCR):c.1340T>C (p.Leu447Pro)	rs1801197	0.35816
NM_000559.3(HBG1):c.227C>T (p.Thr76Ile)	rs1061234	0.35682
NM_000545.8(HNF1A):c.79A>C (p.Ile27Leu)	rs1169288	0.35489
NM_000237.3(LPL):c.*1671T>C	rs13702	0.35126
NM_021071.4(ART4):c.793G>A (p.Asp265Asn)	rs11276	0.33901
NC_000015.10:g.58431740G>A	rs2070895	0.33491
NM_033004.4(NLRP1):c.464T>A (p.Leu155His)	rs12150220	0.33261
NM_001875.5(CPS1):c.4217C>A (p.Thr1406Asn)	rs1047891	0.33052
NM_000311.5(PRNP):c.385A>G (p.Met129Val)	rs1799990	0.32909
NM_004117.4(FKBP5):c.106-2636=	rs1360780	0.32776
NM_000562.3(C8A):c.277C>A (p.Gln93Lys)	rs652785	0.32517
NM_016180.5(SLC45A2):c.1122= (p.Leu374=)	rs16891982	0.32383
NM_006208.3(ENPP1):c.517A>C (p.Lys173Gln)	rs1044498	0.32168
NM_000565.4(IL6R):c.1073A>C (p.Asp358Ala)	rs2228145	0.31732
NM_024006.4(VKORC1):c.-1639G>A	rs9923231	0.31727
NM_001080467.3(MYO5B):c.3163_3165dup (p.Leu1055dup)	rs397841722	0.31640
NM_002438.4(MRC1):c.1186G>A (p.Gly396Ser)	rs606231248	0.31451
NM_024006.6(VKORC1):c.174-136C>T	rs9934438	0.31147
NM_002392.6(MDM2):c.14+309T>G	rs2279744	0.30651
NM_001127701.1(SERPINA1):c.710T>C (p.Val237Ala)	rs6647	0.29917
NM_003465.3(CHIT1):c.304G>A (p.Gly102Ser)	rs2297950	0.29831
NC_000010.11:g.49539493G>C	rs3793784	0.29754
NM_000069.3(CACNA1S):c.258+57G>A	rs1325310	0.28632
NM_005432.4(XRCC3):c.562-14A>G	rs1799796	0.28148
NM_021133.4(RNASEL):c.1385G>A (p.Arg462Gln)	rs486907	0.28062
NM_000140.5(FECH):c.68-23C>T	rs2269219	0.27629
NM_005957.5(MTHFR):c.665C>T (p.Ala222Val)	rs1801133	0.27446
NM_001608.4(ACADL):c.997A>C (p.Lys333Gln)	rs2286963	0.27178
NM_000531.6(OTC):c.137A>G (p.Lys46Arg)	rs1800321	0.26575
NM_173851.3(SLC30A8):c.973C>T (p.Arg325Trp)	rs13266634	0.26559
NM_213647.3(FGFR4):c.1162G>A (p.Gly388Arg)	rs351855	0.26099
NM_000743.5(CHRNA3):c.645C>T (p.Tyr215=)	rs1051730	0.25972
NM_005957.5(MTHFR):c.1286A>C (p.Glu429Ala)	rs1801131	0.25830
NM_002036.3(ACKR1):c.-67T>C	rs2814778	0.25719
NM_178510.2(ANKK1):c.2137G>A (p.Glu713Lys)	rs1800497	0.25693
NC_000017.11:g.58281401C>T	rs2333227	0.24481
NM_000372.5(TYR):c.575C>A (p.Ser192Tyr)	rs1042602	0.24046
NM_000745.4(CHRNA5):c.1192G>A (p.Asp398Asn)	rs16969968	0.23879
NM_001099667.3(ARMS2):c.205G>T (p.Ala69Ser)	rs10490924	0.23418
NM_198437.3(AURKA):c.91T>A (p.Phe31Ile)	rs2273535	0.23195
NM_000059.4(BRCA2):c.1114A>C (p.Asn372His)	rs144848	0.23116
NM_001171.6(ABCC6):c.3803G>A (p.Arg1268Gln)	rs2238472	0.22903
NM_000133.4(F9):c.580A>G (p.Thr194Ala)	rs6048	0.22614
NM_000249.4(MLH1):c.-93G>A	rs1800734	0.22121
NM_000129.4(F13A1):c.103G>T (p.Val35Leu)	rs5985	0.22002
NM_001127701.1(SERPINA1):c.1200A>C (p.Glu400Asp)	rs1303	0.21786
NM_000903.3(NQO1):c.559C>T (p.Pro187Ser)	rs1800566	0.21635
NM_020975.6(RET):c.135= (p.Ala45=)	rs1800858	0.21483
NM_020366.4(RPGRIP1):c.1639G>T (p.Ala547Ser)	rs10151259	0.21481
NM_000254.3(MTR):c.2756A>G (p.Asp919Gly)	rs1805087	0.21318
NM_000017.4(ACADS):c.625G>A (p.Gly209Ser)	rs1799958	0.20997
NM_000685.5(AGTR1):c.*86A>C	rs5186	0.20976
NM_001145805.2(IRGM):c.313C>T (p.Leu105=)	rs10065172	0.20755
NM_000270.4(PNP):c.151G>A (p.Gly51Ser)	rs1049564	0.20682
NM_000099.4(CST3):c.73G>A (p.Ala25Thr)	rs1064039	0.20062
NM_000593.6(TAP1):c.997A>G (p.Ile333Val)	rs1057141	0.20047
NM_000487.6(ARSA):c.1055A>G (p.Asn352Ser)	rs2071421	0.19530
NM_178135.5(HSD17B13):c.812+2dup	rs72613567	0.19453
NM_002658.6(PLAU):c.422= (p.Leu141=)	rs2227564	0.18805
CYP2D6*10	rs1065852	0.18675
NM_000055.2(BCHE):c.1699G>A (p.Ala567Thr)	rs1803274	0.18493
NM_000372.5(TYR):c.1205G>A (p.Arg402Gln)	rs1126809	0.17677
NM_000593.6(TAP1):c.1910A>G (p.Asp637Gly)	rs1135216	0.17500
NM_152709.5(STOX1):c.1824A>C (p.Glu608Asp)	rs10509305	0.17379
NM_001710.5(CFB):c.94C>T (p.Arg32Trp)	rs12614	0.17324
NM_000684.3(ADRB1):c.145A>G (p.Ser49Gly)	rs1801252	0.16847
NM_001354761.2(ADD1):c.1378G>T (p.Gly460Trp)	rs4961	0.16822
NM_000769.4(CYP2C19):c.681G>A (p.Pro227=)	rs4244285	0.16806
NM_004181.5(UCHL1):c.53C>A (p.Ser18Tyr)	rs5030732	0.16658
NM_003465.3(CHIT1):c.1049_1072dup (p.Trp358Ter)	rs3831317	0.16576
NM_206937.2(LIG4):c.26C>T (p.Thr9Ile)	rs1805388	0.16468
NM_001011551.3(C1GALT1C1):c.393T>A (p.Asp131Glu)	rs17261572	0.16287
NM_002711.4(PPP1R3A):c.2713G>T (p.Asp905Tyr)	rs1799999	0.16138
NM_000041.4(APOE):c.388T>C (p.Cys130Arg)	rs429358	0.16059
NM_014236.4(GNPAT):c.1556A>G (p.Asp519Gly)	rs11558492	0.15945
NM_000030.3(AGXT):c.1020A>G (p.Ile340Met)	rs4426527	0.15412
NM_000361.3(THBD):c.1418C>T (p.Ala473Val)	rs1042579	0.15322
NM_005141.4(FGB):c.1433G>A (p.Arg478Lys)	rs4220	0.15295
NM_006214.4(PHYH):c.85C>T (p.Pro29Ser)	rs28938169	0.14735
NM_014208.3(DSPP):c.202A>T (p.Arg68Trp)	rs36094464	0.14530
NM_001290043.2(TAP2):c.1135G>A (p.Val379Ile)	rs1800454	0.14502
CYP2D6*4	rs3892097	0.14340
NC_000003.12:g.124055231T>G	rs9289231	0.14244
NM_000064.4(C3):c.304C>G (p.Arg102Gly)	rs2230199	0.14187
NC_000006.12:g.31575254G>A	rs1800629	0.13769
NM_018006.5(TRMU):c.28G>T (p.Ala10Ser)	rs11090865	0.13476
NM_000064.4(C3):c.941C>T (p.Pro314Leu)	rs1047286	0.13429
NM_000500.9(CYP21A2):c.806G>C (p.Ser269Thr)	rs6472	0.13352
NM_001142616.3(EHBP1):c.1185+30064G>A	rs721048	0.13334
NM_001063.4(TF):c.1765C>T (p.Pro589Ser)	rs1049296	0.13332
NM_000767.5(CYP2B6):c.785A>G (p.Lys262Arg)	rs2279343	0.12936
NM_001159387.2(B4GALNT2):c.1216T>C (p.Cys406Arg)	rs7224888	0.12829
NM_000521.4(HEXB):c.619A>G (p.Ile207Val)	rs10805890	0.12761
NM_000212.3(ITGB3):c.176T>C (p.Leu59Pro)	rs5918	0.12746
NM_001127701.1(SERPINA1):c.374G>A (p.Arg125His)	rs709932	0.12614
NM_002875.5(RAD51):c.-98G>C	rs1801320	0.12401
NM_000354.5(SERPINA7):c.909G>T (p.Leu303Phe)	rs1804495	0.12108
NM_001710.5(CFB):c.95G>A (p.Arg32Gln)	rs641153	0.11820
NM_000150.4(FUT6):c.739G>A (p.Glu247Lys)	rs17855739	0.11802
NM_002335.4(LRP5):c.2220C>T (p.Asn740=)	rs2306862	0.11597
NM_001378373.1(MBL2):c.161G>A (p.Gly54Asp)	rs1800450	0.11335
NM_001127255.2(NLRP7):c.1441G>A (p.Ala481Thr)	rs61747414	0.11267
NM_138711.6(PPARG):c.1341C>T (p.His447=)	rs3856806	0.11181
NM_000388.4(CASR):c.2956G>T (p.Ala986Ser)	rs1801725	0.10965
NM_001318777.2(TIRAP):c.539C>T (p.Ser180Leu)	rs8177374	0.10946
NM_001141945.3(ACTA2):c.-24+1440C>T	rs2234767	0.10602
NM_000113.3(TOR1A):c.646G>C (p.Asp216His)	rs1801968	0.10301
NM_005411.5(SFTPA1):c.655C>T (p.Arg219Trp)	rs4253527	0.10197
NM_001370466.1(NOD2):c.2717+158C>T	rs5743289	0.10180
NM_025194.3(ITPKC):c.1155+9G>C	rs28493229	0.10089
NM_033453.4(ITPA):c.124+21A>C	rs7270101	0.09874
NM_000435.3(NOTCH3):c.3058G>C (p.Ala1020Pro)	rs35769976	0.09838
NM_005142.3(CBLIF):c.68A>G (p.Gln23Arg)	rs35211634	0.09596
NM_004827.3(ABCG2):c.421C>A (p.Gln141Lys)	rs2231142	0.09384
NM_005144.5(HR):c.3064A>G (p.Thr1022Ala)	rs7014851	0.08773
NM_004137.4(KCNMB1):c.193G>A (p.Glu65Lys)	rs11739136	0.08717
NM_000036.3(AMPD1):c.34C>T (p.Gln12Ter)	rs17602729	0.08701
NM_000402.4(G6PD):c.466A>G (p.Asn156Asp)	rs1050829	0.08672
NM_002386.4(MC1R):c.178G>T (p.Val60Leu)	rs1805005	0.08197
NM_016945.3(TAS2R16):c.516T>G (p.Asn172Lys)	rs846664	0.08190
NM_000602.5(SERPINE1):c.43G>A (p.Ala15Thr)	rs6092	0.07985
NM_004827.3(ABCG2):c.34G>A (p.Val12Met)	rs2231137	0.07814
NM_000295.5(SERPINA1):c.*1331G>A	rs11568814	0.07789
NM_001395413.1(POR):c.6A>G (p.Gly2=)	rs10262966	0.07713
NM_000275.3(OCA2):c.913C>T (p.Arg305Trp)	rs1800401	0.07659
NM_001159387.2(B4GALNT2):c.954+5G>A	rs72835417	0.07640
NM_001378373.1(MBL2):c.170G>A (p.Gly57Glu)	rs1800451	0.07628
NM_017672.6(TRPM7):c.4445C>T (p.Thr1482Ile)	rs8042919	0.07502
NM_000155.4(GALT):c.940A>G (p.Asn314Asp)	rs2070074	0.07384
NM_016362.5(GHRL):c.214C>A (p.Leu72Met)	rs696217	0.07295
NM_153717.3(EVC):c.1328G>A (p.Arg443Gln)	rs35953626	0.07232
NM_022336.4(EDAR):c.1109T>C (p.Val370Ala)	rs3827760	0.07017
NM_000140.5(FECH):c.315-48T>C	rs2272783	0.06828
NM_016335.6(PRODH):c.1292G>A (p.Arg431His)	rs2904552	0.06735
NM_020208.4(SLC6A20):c.596C>T (p.Thr199Met)	rs17279437	0.06722
NM_001379500.1(COL18A1):c.3778G>A (p.Asp1260Asn)	rs12483377	0.06693
NM_138554.5(TLR4):c.896A>G (p.Asp299Gly)	rs4986790	0.06665
NM_015967.8(PTPN22):c.1858= (p.Trp620=)	rs2476601	0.06614
NM_002386.4(MC1R):c.274G>A (p.Val92Met)	rs2228479	0.06520
NM_000616.5(CD4):c.793C>T (p.Arg265Trp)	rs28919570	0.06389
NC_000008.11:g.11573132C>T	rs61199332	0.06287
NM_000031.6(ALAD):c.177G>C (p.Lys59Asn)	rs1800435	0.06273
NM_001002294.3(FMO3):c.769G>A (p.Val257Met)	rs1736557	0.06174
NM_033453.4(ITPA):c.94C>A (p.Pro32Thr)	rs1127354	0.06104
NM_001008212.2(OPTN):c.293T>A (p.Met98Lys)	rs11258194	0.05969
NM_000022.4(ADA):c.239A>G (p.Lys80Arg)	rs11555566	0.05947
NM_000579.4(CCR5):c.-229C>T	rs41469351	0.05865
NM_016180.5(SLC45A2):c.814G>A (p.Glu272Lys)	rs26722	0.05621
NM_018100.4(EFHC1):c.545G>A (p.Arg182His)	rs3804505	0.05453
NM_000482.4(APOA4):c.1140G>T (p.Gln380His)	rs5110	0.05181
NM_000487.6(ARSA):c.*96A>G	rs6151429	0.05120
NM_144687.4(NLRP12):c.1206C>G (p.Phe402Leu)	rs34971363	0.05059
NM_206937.2(LIG4):c.8C>T (p.Ala3Val)	rs1805389	0.04996
NM_197947.3(CLEC7A):c.714T>G (p.Tyr238Ter)	rs16910526	0.04986
NM_000342.4(SLC4A1):c.166A>G (p.Lys56Glu)	rs5036	0.04977
NM_015272.5(RPGRIP1L):c.685G>A (p.Ala229Thr)	rs61747071	0.04969
NM_001378373.1(MBL2):c.154C>T (p.Arg52Cys)	rs5030737	0.04964
NM_000016.6(ACADM):c.351A>C (p.Thr117=)	rs74090726	0.04935
NM_000275.3(OCA2):c.1256G>A (p.Arg419Gln)	rs1800407	0.04917
CYP2C9*3	rs1057910	0.04900
NM_014049.5(ACAD9):c.-44_-41dup	rs387906242	0.04863
NM_000569.8(FCGR3A):c.197T>A (p.Leu66His)	rs10127939	0.04855
NM_002386.4(MC1R):c.451C>T (p.Arg151Cys)	rs1805007	0.04832
NM_002769.5(PRSS1):c.161A>G (p.Asn54Ser)	rs144422014	0.04776
NG_012820.2(ANK1):g.104117T>C	rs77173848	0.04675
NM_001360016.2(G6PD):c.486-60C>G	rs2515904	0.04673
NM_002386.4(MC1R):c.478C>T (p.Arg160Trp)	rs1805008	0.04620
NM_000152.3(GAA):c.2065G>A (p.Glu689Lys)	rs1800309	0.04394
NM_001195129.2(PRSS56):c.1795C>G (p.Pro599Ala)	rs61744404	0.04318
NM_020975.6(RET):c.*1969T>C	rs3026785	0.04255
NM_001042475.3(CEP85L):c.1020+17269T>G	rs77186188	0.04176
NM_000022.2(ADA):c.22G>A (p.Asp8Asn)	rs73598374	0.04175
NM_003356.4(UCP3):c.304G>A (p.Val102Ile)	rs2229707	0.03989
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_002283.4(KRT85):c.233G>A (p.Arg78His)	rs61630004	0.03613
NM_002335.4(LRP5):c.1999G>A (p.Val667Met)	rs4988321	0.03472
NM_021625.5(TRPV4):c.55C>T (p.Pro19Ser)	rs3742030	0.03470
NM_001308.3(CPN1):c.533G>A (p.Gly178Asp)	rs61751507	0.03433
NM_003126.4(SPTA1):c.2909C>A (p.Ala970Asp)	rs35948326	0.03419
NM_001079802.2(FKTN):c.373G>A (p.Gly125Ser)	rs34006675	0.03359
NM_000063.6(C2):c.954G>C (p.Glu318Asp)	rs9332739	0.03307
NM_000017.4(ACADS):c.511C>T (p.Arg171Trp)	rs1800556	0.03280
NM_022367.4(SEMA4A):c.2138G>A (p.Arg713Gln)	rs41265017	0.03238
NM_024649.5(BBS1):c.700G>A (p.Glu234Lys)	rs35520756	0.03206
NM_000439.5(PCSK1):c.661A>G (p.Asn221Asp)	rs6232	0.03201
NM_001360016.2(G6PD):c.1116G>A (p.Gln372=)	rs2230036	0.03179
NM_012084.4(GLUD2):c.1492T>G (p.Ser498Ala)	rs9697983	0.03160
NM_000350.3(ABCA4):c.2828G>A (p.Arg943Gln)	rs1801581	0.02951
NM_013339.4(ALG6):c.391T>C (p.Tyr131His)	rs35383149	0.02935
NM_004006.3(DMD):c.8734A>G (p.Asn2912Asp)	rs1800278	0.02886
NM_001138.2(AGRP):c.199G>A (p.Ala67Thr)	rs5030980	0.02882
NM_004006.3(DMD):c.8729A>T (p.Glu2910Val)	rs41305353	0.02876
NM_003331.5(TYK2):c.3310C>G (p.Pro1104Ala)	rs34536443	0.02850
NM_006208.3(ENPP1):c.2320C>T (p.Arg774Cys)	rs28933977	0.02826
NM_014625.4(NPHS2):c.686G>A (p.Arg229Gln)	rs61747728	0.02796
NM_001083116.3(PRF1):c.272C>T (p.Ala91Val)	rs35947132	0.02791
NM_001127701.1(SERPINA1):c.863A>T (p.Glu288Val)	rs17580	0.02788
NM_001370466.1(NOD2):c.2023C>T (p.Arg675Trp)	rs2066844	0.02760
NM_001385875.1(ZFYVE27):c.572G>T (p.Gly191Val)	rs35077384	0.02717
NM_001001548.3(CD36):c.975T>G (p.Tyr325Ter)	rs3211938	0.02669
NM_000067.3(CA2):c.754A>G (p.Asn252Asp)	rs2228063	0.02634
NM_006433.5(GNLY):c.11G>A (p.Trp4Ter)	rs10181739	0.02612
NM_000420.3(KEL):c.1790T>C (p.Leu597Pro)	rs8176038	0.02529
NM_005555.4(KRT6B):c.1495G>A (p.Gly499Ser)	rs61746355	0.02504
NM_020366.4(RPGRIP1):c.3341A>G (p.Asp1114Gly)	rs17103671	0.02500
NM_001388492.1(HTT):c.3779C>T (p.Thr1260Met)	rs34315806	0.02416
NM_001436401.1(NOBOX):c.94C>T (p.Arg32Trp)	rs7800847	0.02403
NM_004132.5(HABP2):c.1601G>A (p.Gly534Glu)	rs7080536	0.02322
NM_173076.3(ABCA12):c.7093G>A (p.Asp2365Asn)	rs726070	0.02279
NM_006610.4(MASP2):c.359A>G (p.Asp120Gly)	rs72550870	0.02216
NM_000152.5(GAA):c.271G>A (p.Asp91Asn)	rs1800299	0.02215
NM_000335.5(SCN5A):c.3305C>A (p.Ser1102Tyr)	rs7626962	0.02208
NM_002253.4(KDR):c.1444T>C (p.Cys482Arg)	rs34231037	0.02171
NM_001160179.2(NAT1):c.445G>A (p.Val149Ile)	rs4987076	0.02159
NM_000137.4(FAH):c.1021C>T (p.Arg341Trp)	rs11555096	0.02131
NM_001278736.2(CCL5):c.-96C>G	rs2280788	0.02122
NM_000243.3(MEFV):c.442G>C (p.Glu148Gln)	rs3743930	0.02112
NM_001040108.2(MLH3):c.2221G>T (p.Val741Phe)	rs28756990	0.02049
NM_000348.4(SRD5A2):c.145G>A (p.Ala49Thr)	rs9282858	0.01999
NM_000176.3(NR3C1):c.1088A>G (p.Asn363Ser)	rs56149945	0.01969
NM_000949.7(PRLR):c.508A>C (p.Ile170Leu)	rs72478580	0.01896
NM_005105.5(RBM8A):c.-21G>A	rs139428292	0.01871
NM_016335.6(PRODH):c.1357C>T (p.Arg453Cys)	rs3970559	0.01765
NM_000130.4(F5):c.1601G>A (p.Arg534Gln)	rs6025	0.01762
NM_013247.5(HTRA2):c.421G>T (p.Ala141Ser)	rs72470544	0.01709
NM_016616.4(NME8):c.271-27C>T	rs117149381	0.01701
NG_012820.2(ANK1):g.104072G>A	rs183894680	0.01664
NM_001038.6(SCNN1A):c.1477T>C (p.Trp493Arg)	rs5742912	0.01653
NM_020975.6(RET):c.2944C>T (p.Arg982Cys)	rs17158558	0.01651
NM_001174096.2(ZEB1):c.233A>C (p.Asn78Thr)	rs80194531	0.01629
NM_003466.4(PAX8):c.985T>C (p.Phe329Leu)	rs3188996	0.01628
NM_004252.5(NHERF1):c.328C>G (p.Leu110Val)	rs35910969	0.01619
NR_001566.3(TERC):n.58G>A	rs113487931	0.01607
NM_015102.5(NPHP4):c.2542C>T (p.Arg848Trp)	rs17472401	0.01606
NM_000243.3(MEFV):c.1105C>T (p.Pro369Ser)	rs11466023	0.01590
NM_005912.3(MC4R):c.307G>A (p.Val103Ile)	rs2229616	0.01559
NM_001715.3(BLK):c.211G>A (p.Ala71Thr)	rs55758736	0.01485
NM_000243.3(MEFV):c.1223G>A (p.Arg408Gln)	rs11466024	0.01456
NM_000465.4(BARD1):c.1670G>C (p.Cys557Ser)	rs28997576	0.01443
NM_003126.4(SPTA1):c.2373C>A (p.Asp791Glu)	rs7418956	0.01431
NM_025216.3(WNT10A):c.682T>A (p.Phe228Ile)	rs121908120	0.01412
NM_020247.5(COQ8A):c.993C>T (p.Phe331=)	rs41303129	0.01390
NM_001195755.2(FFAR4):c.761G>A (p.Arg254His)	rs116454156	0.01372
NM_000368.5(TSC1):c.1760A>G (p.Lys587Arg)	rs118203576	0.01347
NM_004360.5(CDH1):c.1849G>A (p.Ala617Thr)	rs33935154	0.01316
NM_001127701.1(SERPINA1):c.1096G>A (p.Glu366Lys)	rs28929474	0.01282
NM_153676.4(USH1C):c.388G>A (p.Val130Ile)	rs55843567	0.01274
NM_003102.4(SOD3):c.691C>G (p.Arg231Gly)	rs1799895	0.01270
NM_000055.2(BCHE):c.293A>G (p.Asp98Gly)	rs1799807	0.01259
NM_006080.3(SEMA3A):c.1303G>A (p.Val435Ile)	rs147436181	0.01250
NM_005032.7(PLS3):c.321T>A (p.Gly107=)	rs140121121	0.01242
NM_000106.6(CYP2D6):c.775del (p.Arg259fs)	rs35742686	0.01234
NM_174936.4(PCSK9):c.137G>T (p.Arg46Leu)	rs11591147	0.01227
NM_003597.5(KLF11):c.659C>T (p.Thr220Met)	rs34336420	0.01221
NM_000342.3(SLC4A1):c.118G>A (p.Glu40Lys)	rs45562031	0.01150
NM_000359.3(TGM1):c.1552G>A (p.Val518Met)	rs35312232	0.01146
UGT1A1*6	rs4148323	0.01140
NM_016233.2(PADI3):c.856A>G (p.Thr286Ala)	rs139426141	0.01139
NM_000250.2(MPO):c.995C>T (p.Ala332Val)	rs28730837	0.01134
NM_000511.6(FUT2):c.418A>T (p.Ile140Phe)	rs1047781	0.01130
NM_002381.5(MATN3):c.908C>T (p.Thr303Met)	rs77245812	0.01128
NM_001122659.3(EDNRB):c.914G>A (p.Ser305Asn)	rs5352	0.01109
NM_007294.4(BRCA1):c.3119G>A (p.Ser1040Asn)	rs4986852	0.01109
NM_002036.4(ACKR1):c.265C>T (p.Arg89Cys)	rs34599082	0.01089
NM_002386.4(MC1R):c.880G>C (p.Asp294His)	rs1805009	0.01082
NM_000350.3(ABCA4):c.6529G>A (p.Asp2177Asn)	rs1800555	0.01028
NM_020433.5(JPH2):c.1513G>A (p.Gly505Ser)	rs140740776	0.01021
NM_001142864.4(PIEZO1):c.6734G>A (p.Arg2245Gln)	rs2290901	0.01007
NM_006269.2(RP1):c.1118C>T (p.Thr373Ile)	rs77775126	0.01007
NM_000410.4(HFE):c.193A>T (p.Ser65Cys)	rs1800730	0.00992
NM_032737.4(LMNB2):c.704G>A (p.Arg235Gln)	rs121912497	0.00981
NM_000500.9(CYP21A2):c.188A>T (p.His63Leu)	rs9378252	0.00964
NM_001374353.1(GLI2):c.4507G>A (p.Asp1503Asn)	rs114814747	0.00964
NM_001148.6(ANK2):c.11218C>A (p.Leu3740Ile)	rs35530544	0.00961
NM_000250.2(MPO):c.752T>C (p.Met251Thr)	rs56378716	0.00954
NM_000506.5(F2):c.*97G>A	rs1799963	0.00953
NM_017739.4(POMGNT1):c.1666G>A (p.Asp556Asn)	rs74374973	0.00953
NM_004004.6(GJB2):c.101T>C (p.Met34Thr)	rs35887622	0.00944
NM_006446.5(SLCO1B1):c.481+1G>T	rs77271279	0.00934
NM_018283.4(NUDT15):c.415C>T (p.Arg139Cys)	rs116855232	0.00927
NM_000443.4(ABCB4):c.523A>G (p.Thr175Ala)	rs58238559	0.00914
NM_006205.3(PDE6H):c.-29G>C	rs114575851	0.00911
NM_001159387.2(B4GALNT2):c.1387C>T (p.Arg463Trp)	rs61743617	0.00910
NM_000552.5(VWF):c.4196G>A (p.Arg1399His)	rs1800382	0.00907
NM_001039569.2(AP1S3):c.11T>G (p.Phe4Cys)	rs116107386	0.00898
NM_181776.3(SLC36A2):c.260G>T (p.Gly87Val)	rs77010315	0.00869
CYP2D6*6	rs5030655	0.00862
NM_001142633.3(PIK3R5):c.1885C>T (p.Pro629Ser)	rs61761068	0.00859
NM_001436401.1(NOBOX):c.38-293G>T	rs77587352	0.00850
NM_017570.5(OPLAH):c.3265G>A (p.Val1089Ile)	rs185836803	0.00843
NM_000219.6(KCNE1):c.253G>A (p.Asp85Asn)	rs1805128	0.00841
NM_001243133.2(NLRP3):c.592G>A (p.Val198Met)	rs121908147	0.00835
NM_015627.3(LDLRAP1):c.653C>T (p.Thr218Ile)	rs114583297	0.00817
NM_001101648.2(NPC1L1):c.3617T>A (p.Ile1206Asn)	rs52815063	0.00800
NM_001379610.1(SPINK1):c.101A>G (p.Asn34Ser)	rs17107315	0.00797
NM_000483.5(APOC2):c.229A>C (p.Lys77Gln)	rs5126	0.00784
NM_006346.4(PIBF1):c.1214G>A (p.Arg405Gln)	rs17089782	0.00771
NM_001040108.2(MLH3):c.1870G>C (p.Glu624Gln)	rs28756986	0.00750
NM_198999.3(SLC26A5):c.-53-2A>G	rs116900495	0.00746
NM_153766.3(KCNJ1):c.1013T>C (p.Met338Thr)	rs59172778	0.00742
NM_004628.5(XPC):c.1001C>A (p.Pro334His)	rs74737358	0.00740
NM_001039569.2(AP1S3):c.97C>T (p.Arg33Trp)	rs138292988	0.00726
NM_000284.4(PDHA1):c.844A>C (p.Met282Leu)	rs2229137	0.00715
NM_001099857.5(IKBKG):c.337G>A (p.Asp113Asn)	rs179363896	0.00715
NM_002273.4(KRT8):c.160T>C (p.Tyr54His)	rs57749775	0.00715
NM_000051.4(ATM):c.146C>G (p.Ser49Cys)	rs1800054	0.00712
NM_000041.4(APOE):c.487C>T (p.Arg163Cys)	rs769455	0.00701
NM_000363.5(TNNI3):c.244C>T (p.Pro82Ser)	rs77615401	0.00699
NM_001902.6(CTH):c.200C>T (p.Thr67Ile)	rs28941785	0.00693
NM_005148.4(UNC119):c.65G>T (p.Gly22Val)	rs199714731	0.00691
NM_000264.5(PTCH1):c.2183C>T (p.Thr728Met)	rs115556836	0.00678
NM_000275.3(OCA2):c.1441G>A (p.Ala481Thr)	rs74653330	0.00674
NM_001083116.3(PRF1):c.755A>G (p.Asn252Ser)	rs28933375	0.00674
NM_001174096.2(ZEB1):c.2522A>C (p.Gln841Pro)	rs118020901	0.00654
NM_000489.6(ATRX):c.5579A>G (p.Asn1860Ser)	rs45439799	0.00640
NM_000121.4(EPOR):c.1460A>G (p.Asn487Ser)	rs62638745	0.00627
NM_016233.2(PADI3):c.881C>T (p.Ala294Val)	rs144080386	0.00620
NM_016239.4(MYO15A):c.6614C>T (p.Thr2205Ile)	rs121908970	0.00599
NM_000443.4(ABCB4):c.1769G>A (p.Arg590Gln)	rs45575636	0.00598
NM_000690.4(ALDH2):c.1510G>A (p.Glu504Lys)	rs671	0.00596
NM_001365536.1(SCN9A):c.554G>A (p.Arg185His)	rs73969684	0.00574
NM_000038.6(APC):c.3949G>C (p.Glu1317Gln)	rs1801166	0.00570
NM_017841.4(SDHAF2):c.*12C>T	rs113652589	0.00570
NM_001008216.2(GALE):c.770A>G (p.Lys257Arg)	rs28940884	0.00568
NM_000083.3(CLCN1):c.2680C>T (p.Arg894Ter)	rs55960271	0.00561
FIBRINOGEN PARIS 1	rs2066862	0.00546
NM_001278298.2(COL6A5):c.6814G>T (p.Glu2272Ter)	rs115375867	0.00546
NM_002386.4(MC1R):c.252C>A (p.Asp84Glu)	rs1805006	0.00539
NM_003041.4(SLC5A2):c.1961A>G (p.Asn654Ser)	rs61742739	0.00531
NM_001127496.3(SPRY4):c.841G>A (p.Val281Ile)	rs142439525	0.00522
NM_002273.4(KRT8):c.184G>T (p.Gly62Cys)	rs11554495	0.00522
NM_000492.4(CFTR):c.1727G>C (p.Gly576Ala)	rs1800098	0.00519
NM_005105.5(RBM8A):c.67+32G>C	rs201779890	0.00518
NM_012452.3(TNFRSF13B):c.542C>A (p.Ala181Glu)	rs72553883	0.00518
NM_001371904.1(APOA5):c.553G>T (p.Gly185Cys)	rs2075291	0.00514
NM_000168.6(GLI3):c.2179G>A (p.Gly727Arg)	rs121917710	0.00511
NM_000243.3(MEFV):c.2084A>G (p.Lys695Arg)	rs104895094	0.00506
NM_014946.4(SPAST):c.131C>T (p.Ser44Leu)	rs121908515	0.00501
NM_001130987.2(DYSF):c.3946A>G (p.Ile1316Val)	rs121908954	0.00491
NM_001193313.2(SUGCT):c.985C>T (p.Arg329Trp)	rs137852860	0.00490
NM_016233.2(PADI3):c.335T>A (p.Leu112His)	rs142129409	0.00490
NM_000371.4(TTR):c.424G>A (p.Val142Ile)	rs76992529	0.00475
NM_001122659.3(EDNRB):c.169G>A (p.Gly57Ser)	rs1801710	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_172201.2(KCNE2):c.25C>G (p.Gln9Glu)	rs16991652	0.00468
NM_016335.6(PRODH):c.865T>A (p.Leu289Met)	rs137852934	0.00464
NM_000336.3(SCNN1B):c.245C>G (p.Ser82Cys)	rs35731153	0.00463
NM_139281.3(WDR36):c.1177G>A (p.Ala393Thr)	rs35703638	0.00456
NM_139281.3(WDR36):c.1805A>G (p.Asp602Gly)	rs34595252	0.00454
NM_000179.3(MSH6):c.2633T>C (p.Val878Ala)	rs2020912	0.00448
NM_033100.4(CDHR1):c.783G>A (p.Pro261=)	rs147346345	0.00446
NM_000350.3(ABCA4):c.2588G>C (p.Gly863Ala)	rs76157638	0.00445
NM_024301.5(FKRP):c.235G>A (p.Val79Met)	rs104894683	0.00435
NM_000359.3(TGM1):c.125C>A (p.Ser42Tyr)	rs41295338	0.00428
NM_001317778.2(SFTPC):c.482G>A (p.Arg161Gln)	rs34957318	0.00417
NM_013337.4(TIMM22):c.97G>C (p.Val33Leu)	rs149879547	0.00417
NM_153373.4(PHYKPL):c.1310A>T (p.Glu437Val)	rs142181517	0.00415
NM_000518.4(HBB):c.19G>A (p.Glu7Lys)	rs33930165	0.00414
NM_001715.3(BLK):c.*338T>G	rs1042695	0.00411
NM_182914.3(SYNE2):c.18632C>T (p.Thr6211Met)	rs36215895	0.00411
NM_001571.6(IRF3):c.829G>A (p.Ala277Thr)	rs143769046	0.00409
NM_007194.4(CHEK2):c.470T>C (p.Ile157Thr)	rs17879961	0.00408
NM_000163.5(GHR):c.535C>T (p.Arg179Cys)	rs121909362	0.00405
NM_016327.3(UPB1):c.254C>A (p.Ala85Glu)	rs34035085	0.00401
NM_181503.3(EXOSC8):c.815G>C (p.Ser272Thr)	rs36027220	0.00400
NM_001106.4(ACVR2B):c.119G>A (p.Arg40His)	rs121434437	0.00398
NM_014625.4(NPHS2):c.59C>T (p.Pro20Leu)	rs74315344	0.00398
NM_152564.5(VPS13B):c.8903A>G (p.Asn2968Ser)	rs28940272	0.00396
NM_004004.6(GJB2):c.109G>A (p.Val37Ile)	rs72474224	0.00393
NM_022340.4(RBSN):c.1273G>A (p.Gly425Arg)	rs144008665	0.00393
NM_000566.4(FCGR1A):c.274C>T (p.Arg92Ter)	rs74315310	0.00392
NM_012452.3(TNFRSF13B):c.310T>C (p.Cys104Arg)	rs34557412	0.00391
NM_001386125.1(OBSCN):c.23385_23386del (p.Ala7795_Ser7796insTer)	rs536227878	0.00385
NM_001098.3(ACO2):c.220C>G (p.Leu74Val)	rs141772938	0.00383
NM_000152.5(GAA):c.-32-13T>G	rs386834236	0.00380
NM_000304.4(PMP22):c.353C>T (p.Thr118Met)	rs104894619	0.00378
NM_000372.5(TYR):c.1217C>T (p.Pro406Leu)	rs104894313	0.00375
NM_007272.3(CTRC):c.760C>T (p.Arg254Trp)	rs121909293	0.00374
NM_005267.5(GJA8):c.741T>G (p.Ile247Met)	rs80358202	0.00365
NM_003119.4(SPG7):c.1529C>T (p.Ala510Val)	rs61755320	0.00364
NM_006262.4(PRPH):c.421G>T (p.Asp141Tyr)	rs58599399	0.00363
NM_000350.3(ABCA4):c.5908C>T (p.Leu1970Phe)	rs28938473	0.00362
NM_015836.4(WARS2):c.37T>G (p.Trp13Gly)	rs139548132	0.00360
NM_021912.5(GABRB3):c.31C>T (p.Pro11Ser)	rs25409	0.00354
NM_001374353.1(GLI2):c.4612T>C (p.Ser1538Pro)	rs144372453	0.00352
NM_001009944.3(PKD1):c.971G>T (p.Arg324Leu)	rs199476099	0.00351
NM_004252.5(NHERF1):c.673G>A (p.Glu225Lys)	rs119486097	0.00351
NM_000275.3(OCA2):c.1327G>A (p.Val443Ile)	rs121918166	0.00350
NM_000455.5(STK11):c.1062C>G (p.Phe354Leu)	rs59912467	0.00348
NM_152467.5(KLHL10):c.647A>C (p.Gln216Pro)	rs116420871	0.00348
NM_000016.6(ACADM):c.985A>G (p.Lys329Glu)	rs77931234	0.00347
NM_152419.3(HGSNAT):c.1843G>A (p.Ala615Thr)	rs112029032	0.00346
NM_006715.4(MAN2C1):c.2303G>A (p.Arg768Gln)	rs62029711	0.00344
NM_000368.5(TSC1):c.2194C>T (p.His732Tyr)	rs118203657	0.00343
NM_024921.4(POF1B):c.986G>A (p.Arg329Gln)	rs75398746	0.00343
NM_025152.3(NUBPL):c.815-27T>C	rs118161496	0.00343
NM_001048174.2(MUTYH):c.1103G>A (p.Gly368Asp)	rs36053993	0.00341
NM_003465.3(CHIT1):c.220G>A (p.Glu74Lys)	rs137852607	0.00341
NM_000484.4(APP):c.2124C>T (p.Gly708=)	rs148888161	0.00339
NM_021870.3(FGG):c.571G>A (p.Gly191Arg)	rs6063	0.00339
NM_000426.4(LAMA2):c.4487C>T (p.Ala1496Val)	rs147077184	0.00338
NM_005472.5(KCNE3):c.248G>A (p.Arg83His)	rs17215437	0.00338
NM_016038.4(SBDS):c.258+2T>C	rs113993993	0.00337
NM_000492.4(CFTR):c.650A>G (p.Glu217Gly)	rs121909046	0.00335
NM_000504.4(F10):c.424G>A (p.Glu142Lys)	rs61753266	0.00334
NM_021133.4(RNASEL):c.793G>T (p.Glu265Ter)	rs74315364	0.00334
NM_005035.4(POLRMT):c.2608G>A (p.Asp870Asn)	rs139383492	0.00323
NM_000035.4(ALDOB):c.448G>C (p.Ala150Pro)	rs1800546	0.00319
NM_000209.4(PDX1):c.226G>A (p.Asp76Asn)	rs137852783	0.00319
NM_032578.4(MYPN):c.3335C>T (p.Pro1112Leu)	rs71534278	0.00318
NM_198253.3(TERT):c.1234C>T (p.His412Tyr)	rs34094720	0.00316
NM_000169.3(GLA):c.937G>T (p.Asp313Tyr)	rs28935490	0.00315
NM_016335.6(PRODH):c.1397C>T (p.Thr466Met)	rs2870984	0.00314
NM_001399.5(EDA):c.206G>T (p.Arg69Leu)	rs132630309	0.00312
NM_000055.2(BCHE):c.1253G>T (p.Gly418Val)	rs28933390	0.00310
NM_001085.5(SERPINA3):c.754C>G (p.Pro252Ala)	rs17473	0.00310
NM_012082.4(ZFPM2):c.1632G>A (p.Met544Ile)	rs187043152	0.00306
NM_000350.3(ABCA4):c.6148G>C (p.Val2050Leu)	rs41292677	0.00304
NM_001145809.2(MYH14):c.1150G>T (p.Gly384Cys)	rs119103280	0.00303
NM_033337.3(CAV3):c.233C>T (p.Thr78Met)	rs72546668	0.00302
NM_002163.4(IRF8):c.602C>T (p.Ala201Val)	rs144424711	0.00300
NM_020361.5(CPA6):c.809C>T (p.Ala270Val)	rs114402678	0.00300
NM_001013836.2(MAD1L1):c.175C>T (p.Arg59Cys)	rs121908982	0.00299
NM_001371596.2(MFSD8):c.1006G>C (p.Glu336Gln)	rs150418024	0.00299
NM_000166.6(GJB1):c.704T>G (p.Phe235Cys)	rs104894825	0.00295
NM_001063.4(TF):c.2012G>A (p.Gly671Glu)	rs121918677	0.00289
NM_000236.3(LIPC):c.1214C>T (p.Thr405Met)	rs113298164	0.00288
NM_017449.5(EPHB2):c.2032G>A (p.Asp678Asn)	rs28936395	0.00287
NM_000342.4(SLC4A1):c.2561C>T (p.Pro854Leu)	rs2285644	0.00284
NM_004082.5(DCTN1):c.3746C>T (p.Thr1249Ile)	rs72466496	0.00284
NM_000287.4(PEX6):c.1802G>A (p.Arg601Gln)	rs34324426	0.00283
NM_000335.5(SCN5A):c.3575G>A (p.Arg1192Gln)	rs41261344	0.00283
NM_016335.6(PRODH):c.1322T>C (p.Leu441Pro)	rs2904551	0.00282
NM_000260.4(MYO7A):c.905G>A (p.Arg302His)	rs41298135	0.00281
NM_000361.3(THBD):c.1456G>T (p.Asp486Tyr)	rs41348347	0.00281
NM_000298.6(PKLR):c.1456C>T (p.Arg486Trp)	rs116100695	0.00279
NM_000301.5(PLG):c.112A>G (p.Lys38Glu)	rs73015965	0.00279
NM_000939.4(POMC):c.706C>G (p.Arg236Gly)	rs28932472	0.00279
NM_002711.4(PPP1R3A):c.1985_1986del (p.Gln662fs)	rs527638422	0.00279
NM_015141.4(GPD1L):c.370A>G (p.Ile124Val)	rs72552293	0.00277
NM_001243279.3(ACSF3):c.1672C>T (p.Arg558Trp)	rs141090143	0.00273
NM_000514.4(GDNF):c.277C>T (p.Arg93Trp)	rs36119840	0.00272
NM_000686.5(AGTR2):c.62G>T (p.Gly21Val)	rs121917810	0.00271
NM_032782.5(HAVCR2):c.291A>G (p.Ile97Met)	rs35960726	0.00270
NM_000350.3(ABCA4):c.5882G>A (p.Gly1961Glu)	rs1800553	0.00269
NM_004252.5(NHERF1):c.458G>A (p.Arg153Gln)	rs41282065	0.00267
NM_182919.4(TICAM1):c.1702G>A (p.Ala568Thr)	rs143679494	0.00265
NM_012275.3(IL36RN):c.338C>T (p.Ser113Leu)	rs144478519	0.00264
NM_174936.4(PCSK9):c.2037C>A (p.Cys679Ter)	rs28362286	0.00262
NM_000666.3(ACY1):c.1057C>T (p.Arg353Cys)	rs121912698	0.00260
NM_014672.4(PRORP):c.1301C>A (p.Ala434Asp)	rs144536804	0.00260
NM_005384.3(NFIL3):c.510G>A (p.Met170Ile)	rs142259863	0.00255
NM_000361.3(THBD):c.127G>A (p.Ala43Thr)	rs1800576	0.00253
NM_201631.4(TGM5):c.337G>T (p.Gly113Cys)	rs112292549	0.00252
NM_003049.4(SLC10A1):c.800C>T (p.Ser267Phe)	rs2296651	0.00251
NM_000064.4(C3):c.463A>C (p.Lys155Gln)	rs147859257	0.00250
NM_001063.4(TF):c.956A>G (p.His319Arg)	rs41295774	0.00248
NM_007315.4(STAT1):c.796G>A (p.Val266Ile)	rs41473544	0.00246
NM_001374385.1(ATP8B1):c.208G>A (p.Asp70Asn)	rs34719006	0.00245
NM_004168.4(SDHA):c.1523C>T (p.Thr508Ile)	rs151266052	0.00245
NM_016124.6(RHD):c.809T>G (p.Val270Gly)	rs121912763	0.00244
NM_000065.5(C6):c.2381+2T>C	rs76202909	0.00242
NM_018100.4(EFHC1):c.685T>C (p.Phe229Leu)	rs137852776	0.00242
NM_001270891.2(TRAPPC6A):c.277T>A (p.Tyr93Asn)	rs142501705	0.00240
NM_014270.5(SLC7A9):c.544G>A (p.Ala182Thr)	rs79389353	0.00239
NM_020361.5(CPA6):c.799G>A (p.Gly267Arg)	rs61738009	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_014874.4(MFN2):c.1403G>A (p.Arg468His)	rs138382758	0.00237
NM_000406.3(GNRHR):c.317A>G (p.Gln106Arg)	rs104893836	0.00236
NM_001756.4(SERPINA6):c.344T>A (p.Leu115His)	rs113418909	0.00236
NM_001148.6(ANK2):c.11791G>A (p.Glu3931Lys)	rs45454496	0.00235
NM_139027.6(ADAMTS13):c.1423C>T (p.Pro475Ser)	rs11575933	0.00232
NM_013247.5(HTRA2):c.1195G>A (p.Gly399Ser)	rs72470545	0.00231
NM_021628.3(ALOXE3):c.709T>A (p.Leu237Met)	rs121434235	0.00230
NM_144991.3(TSPEAR):c.1915G>A (p.Asp639Asn)	rs138480801	0.00230
NM_003235.5(TG):c.2610G>T (p.Gln870His)	rs2229843	0.00229
NM_000686.5(AGTR2):c.971G>A (p.Arg324Gln)	rs35474657	0.00228
NM_001363.5(DKC1):c.-142C>G	rs199422241	0.00227
NM_022454.4(SOX17):c.775T>A (p.Tyr259Asn)	rs267607083	0.00226
NM_000514.4(GDNF):c.448G>A (p.Asp150Asn)	rs76466003	0.00221
NM_001039396.2(MPEG1):c.1213C>A (p.Pro405Thr)	rs200420254	0.00220
NM_144773.4(PROKR2):c.518T>G (p.Leu173Arg)	rs74315416	0.00220
NM_000262.3(NAGA):c.973G>A (p.Glu325Lys)	rs121434529	0.00219
NM_003098.3(SNTA1):c.770C>G (p.Ala257Gly)	rs56157422	0.00217
NM_003227.4(TFR2):c.1364G>A (p.Arg455Gln)	rs41303501	0.00212
NM_183374.3(CYP26C1):c.845_851dup (p.Gln284fs)	rs565866662	0.00212
NM_001039396.2(MPEG1):c.217A>G (p.Thr73Ala)	rs143527301	0.00210
NM_005413.4(SIX3):c.109G>T (p.Gly37Cys)	rs199823175	0.00210
NM_000441.2(SLC26A4):c.-103T>C	rs60284988	0.00209
NM_031220.4(PITPNM3):c.1878G>C (p.Gln626His)	rs76024428	0.00209
NM_000492.4(CFTR):c.2991G>C (p.Leu997Phe)	rs1800111	0.00208
NM_017411.4(SMN2):c.859G>C (p.Gly287Arg)	rs121909192	0.00208
NM_000483.5(APOC2):c.178G>A (p.Glu60Lys)	rs5122	0.00206
NM_002485.5(NBN):c.643C>T (p.Arg215Trp)	rs34767364	0.00206
NM_001384732.1(CPLANE1):c.8050G>A (p.Ala2684Thr)	rs111294855	0.00205
NM_024577.4(SH3TC2):c.505T>C (p.Tyr169His)	rs80359890	0.00205
NM_017986.4(SLC52A1):c.1134+11G>A	rs141935493	0.00204
NM_001386094.1(AGBL1):c.3157C>T (p.Arg1053Trp)	rs185919705	0.00200
NM_001127701.1(SERPINA1):c.739C>T (p.Arg247Cys)	rs28929470	0.00199
NM_001001557.4(GDF6):c.746C>A (p.Ala249Glu)	rs121909352	0.00198
NM_000036.3(AMPD1):c.1162C>T (p.Arg388Trp)	rs35859650	0.00196
NM_033118.4(MYLK2):c.284C>A (p.Ala95Glu)	rs121908108	0.00196
NM_032782.5(HAVCR2):c.245A>G (p.Tyr82Cys)	rs184868814	0.00193
NM_000157.4(GBA1):c.1226A>G (p.Asn409Ser)	rs76763715	0.00191
NM_000193.4(SHH):c.869G>A (p.Gly290Asp)	rs104894047	0.00191
NM_015693.4(INTU):c.1354G>A (p.Ala452Thr)	rs150681845	0.00191
NM_000478.6(ALPL):c.571G>A (p.Glu191Lys)	rs121918007	0.00190
NM_000520.6(HEXA):c.739C>T (p.Arg247Trp)	rs121907970	0.00190
NM_005956.4(MTHFD1):c.878G>A (p.Arg293His)	rs34181110	0.00189
NM_018384.5(GIMAP5):c.611T>C (p.Leu204Pro)	rs72650695	0.00189
NM_001201427.2(DAAM2):c.1745C>A (p.Pro582His)	rs150676991	0.00188
NM_001271862.2(PNLDC1):c.809T>C (p.Met270Thr)	rs141903829	0.00188
NM_018706.7(DHTKD1):c.2185G>A (p.Gly729Arg)	rs117225135	0.00188
NM_024649.5(BBS1):c.1169T>G (p.Met390Arg)	rs113624356	0.00188
NM_000017.4(ACADS):c.529T>C (p.Trp177Arg)	rs57443665	0.00186
NM_001017922.2(ERMAP):c.169G>A (p.Gly57Arg)	rs56025238	0.00186
NM_021175.4(HAMP):c.212G>A (p.Gly71Asp)	rs104894696	0.00186
NM_000155.4(GALT):c.563A>G (p.Gln188Arg)	rs75391579	0.00184
NM_016953.4(PDE11A):c.171del (p.Thr58fs)	rs529789124	0.00184
NM_006179.5(NTF4):c.616C>T (p.Arg206Trp)	rs121918427	0.00183
NM_019098.5(CNGB3):c.1148del (p.Thr383fs)	rs397515360	0.00183
NM_015717.5(CD207):c.790T>C (p.Trp264Arg)	rs200837270	0.00182
NM_003356.4(UCP3):c.427C>T (p.Arg143Ter)	rs104894319	0.00180
NM_005609.4(PYGM):c.148C>T (p.Arg50Ter)	rs116987552	0.00178
NM_020634.3(GDF3):c.796C>T (p.Arg266Cys)	rs140926412	0.00178
NM_000371.4(TTR):c.416C>T (p.Thr139Met)	rs28933981	0.00177
NM_000875.5(IGF1R):c.1532G>A (p.Arg511Gln)	rs33958176	0.00176
NM_001365536.1(SCN9A):c.1997A>G (p.Lys666Arg)	rs121908919	0.00176
NM_000341.4(SLC3A1):c.1400T>C (p.Met467Thr)	rs121912691	0.00175
NM_016729.3(FOLR1):c.493+2T>C	rs144637717	0.00175
NM_000250.2(MPO):c.1705C>T (p.Arg569Trp)	rs119468010	0.00173
NM_016327.3(UPB1):c.917-1G>A	rs143493067	0.00169
NM_001048174.2(MUTYH):c.452A>G (p.Tyr151Cys)	rs34612342	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_006659.4(TUBGCP2):c.997C>T (p.Arg333Cys)	rs34832477	0.00166
NM_003265.3(TLR3):c.889C>G (p.Leu297Val)	rs35311343	0.00165
NM_006172.4(NPPA):c.190A>C (p.Ser64Arg)	rs61757261	0.00165
NM_000350.3(ABCA4):c.3113C>T (p.Ala1038Val)	rs61751374	0.00164
NM_001111.5(ADAR):c.577C>G (p.Pro193Ala)	rs145588689	0.00162
NM_183065.4(TMEM107):c.*759C>T	rs201787275	0.00162
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_005689.4(ABCB6):c.574C>T (p.Arg192Trp)	rs149202834	0.00159
NM_000519.4(HBD):c.82G>T (p.Ala28Ser)	rs35152987	0.00158
NM_001099857.5(IKBKG):c.169G>A (p.Glu57Lys)	rs148695964	0.00158
NM_001354604.2(MITF):c.1273G>A (p.Glu425Lys)	rs149617956	0.00158
NM_002875.5(RAD51):c.449G>A (p.Arg150Gln)	rs121917739	0.00158
NM_000354.5(SERPINA7):c.631G>A (p.Ala211Thr)	rs2234036	0.00157
NM_000185.4(SERPIND1):c.623G>A (p.Arg208His)	rs5907	0.00156
NM_000769.1(CYP2C19):c.1A>G (p.Met1Val)	rs28399504	0.00156
NM_207034.3(EDN3):c.670G>A (p.Ala224Thr)	rs11570351	0.00156
NM_000040.3(APOC3):c.55+1G>A	rs138326449	0.00153
NM_003265.3(TLR3):c.2224C>T (p.Leu742Phe)	rs147431766	0.00153
NM_000533.5(PLP1):c.-31C>T	rs2233695	0.00152
NM_002693.3(POLG):c.752C>T (p.Thr251Ile)	rs113994094	0.00151
NM_017952.6(PTCD3):c.1918C>G (p.Pro640Ala)	rs144692694	0.00151
NM_001041.4(SI):c.3218G>A (p.Gly1073Asp)	rs121912616	0.00150
NM_001943.5(DSG2):c.166G>A (p.Val56Met)	rs121913013	0.00150
NM_032830.3(UTP4):c.1693C>T (p.Arg565Trp)	rs119465999	0.00150
NM_000431.4(MVK):c.1129G>A (p.Val377Ile)	rs28934897	0.00149
NM_000769.1(CYP2C19):c.636G>A (p.Trp212Ter)	rs4986893	0.00149
NM_001002294.3(FMO3):c.458C>T (p.Pro153Leu)	rs72549326	0.00149
NM_001177316.2(SLC34A3):c.756G>A (p.Gln252=)	rs121918239	0.00149
NM_001360016.2(G6PD):c.968T>C (p.Leu323Pro)	rs76723693	0.00149
NM_001379200.1(TBX1):c.955G>A (p.Gly319Ser)	rs41298838	0.00148
NM_000243.3(MEFV):c.2177T>C (p.Val726Ala)	rs28940579	0.00147
NM_005055.5(RAPSN):c.264C>A (p.Asn88Lys)	rs104894299	0.00147
NM_013391.3(DMGDH):c.326A>G (p.His109Arg)	rs121908331	0.00147
NM_015627.3(LDLRAP1):c.605C>A (p.Ser202Tyr)	rs121908326	0.00147
NM_145725.3(TRAF3):c.352C>T (p.Arg118Trp)	rs143813189	0.00147
NM_021951.3(DMRT1):c.671A>G (p.Asn224Ser)	rs140506267	0.00146
NM_001308093.3(GATA4):c.1040C>T (p.Ala347Val)	rs115372595	0.00145
NM_002485.5(NBN):c.511A>G (p.Ile171Val)	rs61754966	0.00145
NM_024570.4(RNASEH2B):c.529G>A (p.Ala177Thr)	rs75184679	0.00141
NM_001077415.3(CRELD1):c.320G>A (p.Arg107His)	rs28941780	0.00139
NM_000506.3(F2):c.598G>A (p.Glu200Lys)	rs62623459	0.00138
NM_002528.7(NTHL1):c.244C>T (p.Gln82Ter)	rs150766139	0.00138
NM_001127701.1(SERPINA1):c.187C>T (p.Arg63Cys)	rs28931570	0.00137
NM_007294.4(BRCA1):c.2521C>T (p.Arg841Trp)	rs1800709	0.00137
NM_206933.4(USH2A):c.2276G>T (p.Cys759Phe)	rs80338902	0.00137
NM_000350.3(ABCA4):c.2791G>A (p.Val931Met)	rs58331765	0.00136
NM_005726.6(TSFM):c.856C>T (p.Gln286Ter)	rs201754030	0.00136
NM_144666.3(DNHD1):c.8782C>T (p.Arg2928Ter)	rs199752008	0.00136
NM_003900.5(SQSTM1):c.1175C>T (p.Pro392Leu)	rs104893941	0.00133
NM_181712.5(KANK4):c.2401T>C (p.Tyr801His)	rs145623004	0.00133
NM_000406.3(GNRHR):c.785G>A (p.Arg262Gln)	rs104893837	0.00132
NM_022166.4(XYLT1):c.1588-3C>T	rs201818754	0.00132
NM_000065.5(C6):c.821del (p.Gln274fs)	rs557023458	0.00131
NM_000098.3(CPT2):c.338C>T (p.Ser113Leu)	rs74315294	0.00131
NM_001195129.2(PRSS56):c.904G>T (p.Val302Phe)	rs74703359	0.00131
NM_005084.4(PLA2G7):c.835G>T (p.Val279Phe)	rs76863441	0.00131
NM_017429.3(BCO1):c.509C>T (p.Thr170Met)	rs119478057	0.00131
NM_001384910.1(GUCA1A):c.149C>T (p.Pro50Leu)	rs104893968	0.00130
NM_032578.4(MYPN):c.59A>G (p.Tyr20Cys)	rs140148105	0.00130
NM_001258392.3(CLPB):c.1792C>T (p.Arg598Cys)	rs150343959	0.00129
NM_000051.4(ATM):c.1066-6T>G	rs201686625	0.00128
NM_001041.4(SI):c.1730T>G (p.Val577Gly)	rs121912615	0.00128
NM_001172560.3(SSTR5):c.718C>T (p.Arg240Trp)	rs121917877	0.00128
NM_152268.4(PARS2):c.1091C>G (p.Pro364Arg)	rs35201073	0.00128
NM_000104.4(CYP1B1):c.1103G>A (p.Arg368His)	rs79204362	0.00125
NM_001386094.1(AGBL1):c.3044G>C (p.Cys1015Ser)	rs181958589	0.00124
NM_213607.3(DNAAF19):c.461A>C (p.His154Pro)	rs145457535	0.00123
NR_003051.4(RMRP):n.72A>G	rs199476103	0.00123
NM_000256.3(MYBPC3):c.2497G>A (p.Ala833Thr)	rs199865688	0.00122
NM_000454.5(SOD1):c.272A>C (p.Asp91Ala)	rs80265967	0.00121
NM_004982.4(KCNJ8):c.1265C>T (p.Ser422Leu)	rs72554071	0.00121
NM_020361.5(CPA6):c.619C>G (p.Gln207Glu)	rs35993949	0.00121
NM_006715.4(MAN2C1):c.601-2A>G	rs147928844	0.00120
NM_000492.4(CFTR):c.1666A>G (p.Ile556Val)	rs75789129	0.00119
NM_002469.3(MYF6):c.334G>T (p.Ala112Ser)	rs28928909	0.00119
NM_004615.4(TSPAN7):c.515C>A (p.Pro172His)	rs104894951	0.00119
NM_001407.3(CELSR3):c.7890G>A (p.Met2630Ile)	rs149614835	0.00118
NM_016335.6(PRODH):c.1363G>T (p.Ala455Ser)	rs1807467	0.00118
NM_019616.4(F7):c.1025G>A (p.Arg342Gln)	rs121964926	0.00118
NM_000500.9(CYP21A2):c.518T>A (p.Ile173Asn)	rs6475	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_001080483.3(MYMK):c.271C>A (p.Pro91Thr)	rs137868995	0.00116
NM_002491.3(NDUFB3):c.64T>C (p.Trp22Arg)	rs142609245	0.00116
NM_004415.4(DSP):c.88G>A (p.Val30Met)	rs121912998	0.00116
NM_170707.4(LMNA):c.1930C>T (p.Arg644Cys)	rs142000963	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_206965.2(FTCD):c.1607T>A (p.Leu536Ter)	rs149266909	0.00113
NM_002796.3(PSMB4):c.-9G>A	rs200946642	0.00112
NM_032317.3(DNAJC30):c.152A>G (p.Tyr51Cys)	rs61732167	0.00111
NM_000133.4(F9):c.819T>C (p.Val273=)	rs1800455	0.00110
NM_000488.4(SERPINC1):c.1246G>T (p.Ala416Ser)	rs121909548	0.00110
NM_001324144.2(ZNF41):c.73-42A>C	rs201140907	0.00110
NM_001142864.4(PIEZO1):c.7180G>A (p.Gly2394Ser)	rs201950081	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_000140.5(FECH):c.801G>A (p.Met267Ile)	rs118204037	0.00108
NM_001041.4(SI):c.5234T>G (p.Phe1745Cys)	rs79717168	0.00108
NM_000112.4(SLC26A2):c.835C>T (p.Arg279Trp)	rs104893915	0.00107
NM_001354640.2(CIROP):c.92C>T (p.Ser31Phe)	rs553352307	0.00107
NM_024514.5(CYP2R1):c.296T>C (p.Leu99Pro)	rs61495246	0.00107
NM_173353.4(TPH2):c.616C>T (p.Pro206Ser)	rs17110563	0.00107
NM_201253.3(CRB1):c.484G>A (p.Val162Met)	rs137853138	0.00106
NM_000383.4(AIRE):c.769C>T (p.Arg257Ter)	rs121434254	0.00105
NM_001377.3(DYNC2H1):c.11263A>G (p.Met3755Val)	rs137853026	0.00105
NM_002591.4(PCK1):c.925G>A (p.Gly309Arg)	rs201186470	0.00105
NM_001040108.2(MLH3):c.4351G>A (p.Glu1451Lys)	rs28939071	0.00103
NM_018480.7(TMEM126B):c.635G>T (p.Gly212Val)	rs141542003	0.00103
NM_000078.3(CETP):c.1376A>G (p.Asp459Gly)	rs2303790	0.00102
NM_003119.4(SPG7):c.1045G>A (p.Gly349Ser)	rs141659620	0.00102
NM_020070.4(IGLL1):c.425C>T (p.Pro142Leu)	rs1064422	0.00102
NM_020708.5(SLC12A5):c.2855G>A (p.Arg952His)	rs142740233	0.00102
NM_021628.3(ALOXE3):c.1889C>T (p.Pro630Leu)	rs147149459	0.00102
NM_022437.3(ABCG8):c.1083G>A (p.Trp361Ter)	rs137852987	0.00102
NM_001008212.2(OPTN):c.1634G>A (p.Arg545Gln)	rs75654767	0.00101
NM_004807.3(HS6ST1):c.1144C>T (p.Arg382Trp)	rs199538589	0.00101
NM_000154.2(GALK1):c.593C>T (p.Ala198Val)	rs80084721	0.00099
NM_024063.3(AFG2B):c.527G>T (p.Gly176Val)	rs145451123	0.00098
NM_144668.6(CFAP251):c.331G>T (p.Glu111Ter)	rs199671406	0.00098
NM_213599.3(ANO5):c.692G>T (p.Gly231Val)	rs137854523	0.00098
NM_144508.5(KNL1):c.6482A>G (p.Asp2161Gly)	rs142872154	0.00097
NM_000593.6(TAP1):c.1976G>A (p.Arg659Gln)	rs121917702	0.00096
NM_000155.4(GALT):c.404C>T (p.Ser135Leu)	rs111033690	0.00094
NM_001097577.3(ANG):c.122A>T (p.Lys41Ile)	rs121909536	0.00094
NM_001319206.4(MEF2A):c.782A>G (p.Asn261Ser)	rs121918530	0.00094
NM_031448.6(C19orf12):c.391A>G (p.Lys131Glu)	rs146170087	0.00094
NM_000492.4(CFTR):c.1523T>G (p.Phe508Cys)	rs74571530	0.00093
NM_002693.3(POLG):c.2209G>C (p.Gly737Arg)	rs121918054	0.00093
NM_016042.4(EXOSC3):c.238G>T (p.Val80Phe)	rs374550999	0.00093
NM_000311.5(PRNP):c.655G>A (p.Glu219Lys)	rs1800014	0.00092
NM_000212.3(ITGB3):c.506G>A (p.Arg169Gln)	rs5917	0.00091
NM_139281.3(WDR36):c.1418G>A (p.Arg473Gln)	rs116529882	0.00091
NM_207346.3(TSEN54):c.919G>T (p.Ala307Ser)	rs113994152	0.00090
NM_018060.4(IARS2):c.2122G>A (p.Glu708Lys)	rs143722284	0.00089
NM_005257.6(GATA6):c.533C>T (p.Ala178Val)	rs387906815	0.00087
NM_139027.6(ADAMTS13):c.3178C>T (p.Arg1060Trp)	rs142572218	0.00087
NM_000133.4(F9):c.19A>T (p.Ile7Phe)	rs150190385	0.00086
NM_000261.2(MYOC):c.1102C>T (p.Gln368Ter)	rs74315329	0.00086
NM_001289808.2(CRYAB):c.460G>A (p.Gly154Ser)	rs150516929	0.00086
NM_018240.7(KIRREL1):c.1718C>T (p.Ser573Leu)	rs139995772	0.00086
NM_001148.6(ANK2):c.4373A>G (p.Glu1458Gly)	rs72544141	0.00085
NM_004539.4(NARS1):c.1067A>C (p.Asp356Ala)	rs138016359	0.00085
NM_033163.5(FGF8):c.77C>T (p.Pro26Leu)	rs137852660	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_016327.3(UPB1):c.358G>T (p.Ala120Ser)	rs138872001	0.00084
NM_145046.5(CALR3):c.245A>G (p.Lys82Arg)	rs142951029	0.00083
NM_001202.6(BMP4):c.860G>A (p.Arg287His)	rs121912768	0.00082
NM_007215.4(POLG2):c.1105A>G (p.Arg369Gly)	rs201936720	0.00082
NM_018161.5(NADSYN1):c.1717G>A (p.Ala573Thr)	rs144139747	0.00081
NM_003754.3(EIF3F):c.694T>G (p.Phe232Val)	rs141976414	0.00080
NM_182961.4(SYNE1):c.25381G>A (p.Glu8461Lys)	rs119103248	0.00080
NM_006420.3(ARFGEF2):c.625G>A (p.Glu209Lys)	rs28937880	0.00079
NM_032545.4(CFC1):c.522del (p.Ala175fs)	rs746231039	0.00079
NM_000022.4(ADA):c.226C>T (p.Arg76Trp)	rs121908736	0.00078
NM_000782.5(CYP24A1):c.1186C>T (p.Arg396Trp)	rs114368325	0.00078
NM_004525.3(LRP2):c.6160G>A (p.Asp2054Asn)	rs138269726	0.00078
NM_022829.6(SLC13A3):c.1016+3A>G	rs199961976	0.00078
NM_172364.5(CACNA2D4):c.1882C>T (p.Arg628Ter)	rs200098356	0.00078
NM_000089.4(COL1A2):c.2123G>A (p.Arg708Gln)	rs72658163	0.00077
NM_004807.3(HS6ST1):c.917G>A (p.Arg306Gln)	rs201307896	0.00077
NM_022787.4(NMNAT1):c.769G>A (p.Glu257Lys)	rs150726175	0.00077
NM_032578.4(MYPN):c.3583G>A (p.Val1195Met)	rs71534280	0.00077
NM_000545.8(HNF1A):c.92G>A (p.Gly31Asp)	rs137853247	0.00076
NM_002693.3(POLG):c.2243G>C (p.Trp748Ser)	rs113994097	0.00076
NM_012452.3(TNFRSF13B):c.605G>A (p.Arg202His)	rs104894649	0.00076
NM_016824.5(ADD3):c.995A>G (p.Asn332Ser)	rs41291894	0.00076
NM_199161.5(SAA1):c.269G>A (p.Gly90Asp)	rs79681911	0.00076
NM_000235.4(LIPA):c.894G>A (p.Gln298=)	rs116928232	0.00075
NM_001148.6(ANK2):c.11231C>A (p.Thr3744Asn)	rs121912705	0.00074
NM_001211.6(BUB1B):c.1649G>A (p.Arg550Gln)	rs28989187	0.00074
NM_003049.4(SLC10A1):c.263T>C (p.Ile88Thr)	rs148467625	0.00074
NM_000447.3(PSEN2):c.389C>T (p.Ser130Leu)	rs63750197	0.00073
NM_004431.5(EPHA2):c.2162G>A (p.Arg721Gln)	rs116506614	0.00073
NM_005475.3(SH2B3):c.622G>C (p.Glu208Gln)	rs202080221	0.00073
NM_000236.3(LIPC):c.866C>T (p.Ser289Phe)	rs121912502	0.00072
NM_000251.3(MSH2):c.942+3A>T	rs193922376	0.00072
NM_000402.4(G6PD):c.934G>C (p.Asp312His)	rs137852318	0.00072
NM_001079524.2(PAICS):c.158A>G (p.Lys53Arg)	rs192831239	0.00072
NM_001097577.3(ANG):c.208A>G (p.Ile70Val)	rs121909541	0.00072
NM_004393.6(DAG1):c.331G>A (p.Asp111Asn)	rs117209107	0.00072
NM_000483.5(APOC2):c.122A>C (p.Lys41Thr)	rs120074114	0.00071
NM_001609.4(ACADSB):c.443C>T (p.Thr148Ile)	rs58639322	0.00071
NM_025216.3(WNT10A):c.637G>A (p.Gly213Ser)	rs147680216	0.00071
NM_000138.5(FBN1):c.8176C>T (p.Arg2726Trp)	rs61746008	0.00070
NM_001077415.3(CRELD1):c.985C>T (p.Arg329Cys)	rs28942091	0.00070
NM_001243279.3(ACSF3):c.1075G>A (p.Glu359Lys)	rs150487794	0.00070
NM_014669.5(NUP93):c.1162C>T (p.Arg388Trp)	rs145146218	0.00070
NM_023936.2(MRPS34):c.94C>T (p.Gln32Ter)	rs763672163	0.00070
NM_031935.3(HMCN1):c.16034A>G (p.Gln5345Arg)	rs121434382	0.00070
NM_176869.3(PPA2):c.514G>A (p.Glu172Lys)	rs146013446	0.00069
NM_000492.4(CFTR):c.2735C>T (p.Ser912Leu)	rs121909034	0.00068
NM_001371279.1(REEP1):c.837G>T (p.Ser279=)	rs377637314	0.00068
NM_000030.3(AGXT):c.508G>A (p.Gly170Arg)	rs121908529	0.00067
NM_001103.4(ACTN2):c.26A>G (p.Gln9Arg)	rs121434525	0.00067
NM_005797.4(MPZL2):c.72del (p.Ile24fs)	rs752672077	0.00067
NM_024577.4(SH3TC2):c.2860C>T (p.Arg954Ter)	rs80338933	0.00067
NM_000128.4(F11):c.901T>C (p.Phe301Leu)	rs121965064	0.00066
NM_001039.4(SCNN1G):c.1589A>G (p.Asn530Ser)	rs148985177	0.00066
NM_001399.5(EDA):c.1001G>A (p.Arg334His)	rs142948132	0.00066
NM_004004.6(GJB2):c.269T>C (p.Leu90Pro)	rs80338945	0.00066
NM_005505.5(SCARB1):c.1127C>T (p.Pro376Leu)	rs74830677	0.00066
NM_021067.5(GINS1):c.247C>T (p.Arg83Cys)	rs137901350	0.00066
NM_198076.6(COX20):c.157+3G>C	rs367956888	0.00066
NM_000441.2(SLC26A4):c.1003T>C (p.Phe335Leu)	rs111033212	0.00065
NM_001324144.2(ZNF41):c.332C>T (p.Pro111Leu)	rs104894955	0.00065
NM_015375.3(DSTYK):c.86G>A (p.Arg29Gln)	rs200780796	0.00065
NM_000726.5(CACNB4):c.311G>T (p.Cys104Phe)	rs1805031	0.00064
NM_015971.4(MRPS7):c.550A>G (p.Met184Val)	rs115047866	0.00064
NM_017636.4(TRPM4):c.2531G>A (p.Gly844Asp)	rs200038418	0.00064
NM_001086521.2(NDUFAF8):c.195+271C>T	rs745332456	0.00063
NM_005861.4(STUB1):c.433A>C (p.Lys145Gln)	rs146251364	0.00063
NM_017563.5(IL17RD):c.392A>C (p.Lys131Thr)	rs184758350	0.00063
NM_172201.2(KCNE2):c.170T>C (p.Ile57Thr)	rs74315448	0.00063
NM_182919.4(TICAM1):c.557C>T (p.Ser186Leu)	rs146550489	0.00063
NM_000264.5(PTCH1):c.3155C>T (p.Thr1052Met)	rs138911275	0.00062
NM_004278.4(PIGL):c.500T>C (p.Leu167Pro)	rs145303331	0.00062
NM_004917.5(KLK4):c.458G>A (p.Trp153Ter)	rs104894704	0.00062
NM_014946.4(SPAST):c.134C>A (p.Pro45Gln)	rs121908517	0.00062
NM_001365276.2(TNXB):c.3322G>A (p.Val1108Met)	rs121912575	0.00061
NM_003265.3(TLR3):c.2600G>A (p.Arg867Gln)	rs199768900	0.00061
NM_007262.5(PARK7):c.446A>C (p.Asp149Ala)	rs74315352	0.00061
NM_001369.3(DNAH5):c.1121T>C (p.Ile374Thr)	rs147499872	0.00060
NM_004092.4(ECHS1):c.489G>A (p.Pro163=)	rs140410716	0.00060
NM_000518.4(HBB):c.208G>A (p.Gly70Ser)	rs33947415	0.00058
NM_001492.6(GDF1):c.681C>A (p.Cys227Ter)	rs121434422	0.00058
NM_006308.3(HSPB3):c.21G>T (p.Arg7Ser)	rs139382018	0.00058
NM_020949.3(SLC7A14):c.988G>A (p.Gly330Arg)	rs2276717	0.00058
NM_033284.2(TBL1Y):c.206A>T (p.Asp69Val)	rs199659121	0.00058
NM_198578.4(LRRK2):c.7153G>A (p.Gly2385Arg)	rs34778348	0.00058
NM_000055.2(BCHE):c.812C>T (p.Thr271Met)	rs28933389	0.00057
NM_130837.3(OPA1):c.1311A>G (p.Ile437Met)	rs143319805	0.00057
NM_172364.5(CACNA2D4):c.2406C>A (p.Tyr802Ter)	rs71454844	0.00057
NM_000238.4(KCNH2):c.2738C>T (p.Ala913Val)	rs77331749	0.00056
NM_006591.3(POLD3):c.1118A>C (p.Lys373Thr)	rs181857010	0.00056
NM_018451.5(CPAP):c.2462C>T (p.Thr821Met)	rs144938364	0.00056
NM_000128.4(F11):c.809A>T (p.Lys270Ile)	rs121965070	0.00055
NM_000500.9(CYP21A2):c.92C>T (p.Pro31Leu)	rs9378251	0.00055
NM_018429.3(BDP1):c.7873T>G (p.Ter2625Glu)	rs199721728	0.00055
NM_000342.3(SLC4A1):c.980C>G (p.Pro327Arg)	rs28931583	0.00054
NM_001077415.3(CRELD1):c.932C>T (p.Thr311Ile)	rs28942092	0.00054
NM_001130438.3(SPTAN1):c.4283C>G (p.Ala1428Gly)	rs143166100	0.00054
NM_001361.5(DHODH):c.403C>T (p.Arg135Cys)	rs201230446	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_000038.6(APC):c.1240C>T (p.Arg414Cys)	rs137854567	0.00053
NM_000392.5(ABCC2):c.3196C>T (p.Arg1066Ter)	rs72558199	0.00053
NM_003805.5(CRADD):c.509G>A (p.Arg170His)	rs141179774	0.00053
NM_017646.6(TRIT1):c.979C>T (p.Arg327Ter)	rs144042123	0.00052
NM_000250.2(MPO):c.518A>G (p.Tyr173Cys)	rs78950939	0.00051
NM_000342.4(SLC4A1):c.2603C>T (p.Pro868Leu)	rs121912759	0.00051
NM_002150.3(HPD):c.1005C>G (p.Ile335Met)	rs137852868	0.00051
NM_004820.5(CYP7B1):c.1456C>T (p.Arg486Cys)	rs116171274	0.00051
NM_007098.4(CLTCL1):c.988G>A (p.Glu330Lys)	rs199652160	0.00051
NM_018130.3(SHQ1):c.523G>T (p.Asp175Tyr)	rs143636968	0.00051
NM_000040.3(APOC3):c.55C>T (p.Arg19Ter)	rs76353203	0.00050
NM_000384.3(APOB):c.10672C>T (p.Arg3558Cys)	rs12713559	0.00050
NM_000400.4(ERCC2):c.1381C>G (p.Leu461Val)	rs121913016	0.00050
NM_000545.8(HNF1A):c.1748G>A (p.Arg583Gln)	rs137853242	0.00050
NM_006502.3(POLH):c.1603A>G (p.Lys535Glu)	rs56307355	0.00050
NM_152296.5(ATP1A3):c.1387C>T (p.Arg463Cys)	rs150785666	0.00050
NM_000041.4(APOE):c.91G>A (p.Glu31Lys)	rs201672011	0.00049
NM_000262.3(NAGA):c.479C>G (p.Ser160Cys)	rs121434532	0.00049
NM_001756.4(SERPINA6):c.1165G>A (p.Asp389Asn)	rs28929488	0.00049
NM_003265.3(TLR3):c.1660C>T (p.Pro554Ser)	rs121434431	0.00049
NM_014324.6(AMACR):c.154T>C (p.Ser52Pro)	rs121917814	0.00049
NM_000277.3(PAH):c.734T>C (p.Val245Ala)	rs76212747	0.00048
NM_001127255.2(NLRP7):c.2738A>G (p.Asn913Ser)	rs104895503	0.00048
NM_003244.4(TGIF1):c.320A>T (p.Gln107Leu)	rs28939693	0.00048
NM_004577.4(PSPH):c.94G>A (p.Asp32Asn)	rs104894035	0.00048
NM_016042.4(EXOSC3):c.395A>C (p.Asp132Ala)	rs141138948	0.00048
NM_080860.4(RSPH1):c.275-2A>C	rs151107532	0.00048
NM_138694.4(PKHD1):c.107C>T (p.Thr36Met)	rs137852944	0.00048
NM_174936.4(PCSK9):c.426C>G (p.Tyr142Ter)	rs67608943	0.00048
NM_000016.6(ACADM):c.199T>C (p.Tyr67His)	rs121434280	0.00047
NM_004366.6(CLCN2):c.1730G>A (p.Arg577Gln)	rs137852682	0.00047
NM_017636.4(TRPM4):c.1294G>A (p.Ala432Thr)	rs201907325	0.00047
NM_000402.4(G6PD):c.1466G>T (p.Arg489Leu)	rs72554665	0.00046
NM_001142864.4(PIEZO1):c.7174G>A (p.Glu2392Lys)	rs528448732	0.00046
NM_001370658.1(BTD):c.1308A>C (p.Gln436His)	rs80338685	0.00046
NM_016556.4(PSMC3IP):c.189G>T (p.Lys63Asn)	rs139657728	0.00046
NM_024009.3(GJB3):c.580G>A (p.Ala194Thr)	rs117385606	0.00046
NM_144687.4(NLRP12):c.850C>T (p.Arg284Ter)	rs104895564	0.00046
NM_213599.3(ANO5):c.2272C>T (p.Arg758Cys)	rs137854529	0.00046
NM_000402.4(G6PD):c.632A>T (p.Asp211Val)	rs5030872	0.00045
NM_001379659.1(ZNF142):c.25C>T (p.Gln9Ter)	rs200699349	0.00045
NM_002016.2(FLG):c.12064A>T (p.Lys4022Ter)	rs146466242	0.00045
NM_006715.4(MAN2C1):c.2612G>C (p.Cys871Ser)	rs143755898	0.00045
NM_145199.3(LIPT1):c.875C>G (p.Ser292Ter)	rs137891647	0.00045
NM_173689.7(CRB2):c.3746G>A (p.Arg1249Gln)	rs147412276	0.00045
NM_001145165.2(DOHH):c.455C>T (p.Pro152Leu)	rs553950608	0.00044
NM_001218.5(CA12):c.908-1G>A	rs148438059	0.00044
NM_002887.4(RARS1):c.1367C>T (p.Ser456Leu)	rs139644798	0.00044
NM_006715.4(MAN2C1):c.607G>A (p.Gly203Arg)	rs190692217	0.00044
NM_015865.7(SLC14A1):c.342-1G>A	rs78937798	0.00044
NM_020949.3(SLC7A14):c.1391G>T (p.Cys464Phe)	rs79668755	0.00044
NM_033656.4(BRWD1):c.5573A>T (p.Gln1858Leu)	rs147211854	0.00044
NM_000133.4(F9):c.907C>T (p.His303Tyr)	rs1801202	0.00043
NM_017636.4(TRPM4):c.1744G>A (p.Gly582Ser)	rs172149856	0.00043
NM_001127701.1(SERPINA1):c.1159G>A (p.Glu387Lys)	rs121912712	0.00042
NM_001276345.2(TNNT2):c.862C>T (p.Arg288Cys)	rs121964857	0.00042
NM_004773.4(ZNHIT3):c.92C>T (p.Ser31Leu)	rs148890852	0.00042
NM_018283.4(NUDT15):c.52G>A (p.Val18Ile)	rs186364861	0.00042
NM_152467.5(KLHL10):c.937G>A (p.Ala313Thr)	rs370756367	0.00042
NM_000053.4(ATP7B):c.1934T>G (p.Met645Arg)	rs121907998	0.00041
NM_000518.5(HBB):c.79G>A (p.Glu27Lys)	rs33950507	0.00041
NM_001282225.2(ADA2):c.506G>A (p.Arg169Gln)	rs77563738	0.00041
NM_001353694.2(TIAM1):c.67C>T (p.Arg23Cys)	rs149744081	0.00041
NM_014305.4(TGDS):c.298G>T (p.Ala100Ser)	rs140430952	0.00041
NM_014467.3(SRPX2):c.980A>G (p.Asn327Ser)	rs121918363	0.00041
NM_022369.4(STRA6):c.961A>C (p.Thr321Pro)	rs118203962	0.00041
NM_000036.3(AMPD1):c.1274G>A (p.Arg425His)	rs121912682	0.00040
NM_000204.5(CFI):c.355G>A (p.Gly119Arg)	rs141853578	0.00040
NM_000275.3(OCA2):c.1465A>G (p.Asn489Asp)	rs121918170	0.00040
NM_012073.5(CCT5):c.440A>G (p.His147Arg)	rs118203986	0.00040
NM_025150.5(TARS2):c.773C>T (p.Ser258Leu)	rs145039072	0.00040
NM_000169.3(GLA):c.427G>A (p.Ala143Thr)	rs104894845	0.00039
NM_000199.5(SGSH):c.734G>A (p.Arg245His)	rs104894635	0.00039
NM_000551.4(VHL):c.241C>T (p.Pro81Ser)	rs104893829	0.00039
NM_007113.4(TCHH):c.991C>T (p.Gln331Ter)	rs201930497	0.00039
NM_145064.3(STAC3):c.851G>C (p.Trp284Ser)	rs140291094	0.00039
NM_201548.5(CERKL):c.769C>T (p.Arg257Ter)	rs121909398	0.00039
NM_000059.4(BRCA2):c.8187G>T (p.Lys2729Asn)	rs80359065	0.00038
NM_000310.4(PPT1):c.451C>T (p.Arg151Ter)	rs137852700	0.00038
NM_000371.4(TTR):c.328C>A (p.His110Asn)	rs121918074	0.00038
NM_000883.4(IMPDH1):c.568C>T (p.Arg190Trp)	rs121912553	0.00038
NM_001395891.1(CLASP1):c.196-567G>A	rs559979281	0.00038
NM_001395891.1(CLASP1):c.196-605C>T	rs188343279	0.00038
NM_014249.4(NR2E3):c.119-2A>C	rs2723341	0.00038
NM_019616.4(F7):c.995C>T (p.Ala332Val)	rs36209567	0.00038
NM_022835.3(PLEKHG2):c.610C>T (p.Arg204Trp)	rs201201843	0.00038
NM_000161.3(GCH1):c.671A>G (p.Lys224Arg)	rs41298442	0.00037
NM_000216.4(ANOS1):c.1187C>T (p.Ser396Leu)	rs137852517	0.00037
NM_002640.4(SERPINB8):c.850C>T (p.Arg284Ter)	rs144666367	0.00037
NM_004972.4(JAK2):c.1849G>T (p.Val617Phe)	rs77375493	0.00037
NM_000277.3(PAH):c.1139C>T (p.Thr380Met)	rs62642937	0.00036
NM_001040151.2(SCN3B):c.29T>C (p.Leu10Pro)	rs121918282	0.00036
NM_001609.4(ACADSB):c.303+1G>A	rs147936696	0.00036
NM_002016.2(FLG):c.3321del (p.Gly1109fs)	rs200519781	0.00036
NM_002972.4(SBF1):c.4768A>G (p.Thr1590Ala)	rs200488568	0.00036
NM_017807.4(OSGEP):c.328T>C (p.Cys110Arg)	rs140076803	0.00036
NM_019109.5(ALG1):c.773C>T (p.Ser258Leu)	rs28939378	0.00036
NM_020442.6(VARS2):c.1168G>A (p.Ala390Thr)	rs202201763	0.00036
NM_170741.4(KCNJ16):c.749C>T (p.Pro250Leu)	rs138520154	0.00036
NM_198578.4(LRRK2):c.6055G>A (p.Gly2019Ser)	rs34637584	0.00036
NM_003906.5(MCM3AP):c.3814G>A (p.Val1272Met)	rs779248881	0.00035
NM_004551.3(NDUFS3):c.381+6T>C	rs377579231	0.00035
NM_005373.3(MPL):c.305G>C (p.Arg102Pro)	rs28928907	0.00035
NM_006035.4(CDC42BPB):c.2012G>A (p.Arg671Gln)	rs55948035	0.00035
NM_015836.4(WARS2):c.938A>T (p.Lys313Met)	rs145867327	0.00035
NM_018075.5(ANO10):c.1843G>A (p.Asp615Asn)	rs138000380	0.00035
NM_000151.4(G6PC1):c.247C>T (p.Arg83Cys)	rs1801175	0.00034
NM_000441.2(SLC26A4):c.707T>C (p.Leu236Pro)	rs80338848	0.00034
NM_000492.4(CFTR):c.1516A>G (p.Ile506Val)	rs1800091	0.00034
NM_001813.3(CENPE):c.4063A>G (p.Lys1355Glu)	rs141488085	0.00034
NM_003242.6(TGFBR2):c.944C>T (p.Thr315Met)	rs34833812	0.00034
NM_004463.3(FGD1):c.935C>T (p.Pro312Leu)	rs28935498	0.00034
NM_006576.4(AVIL):c.404G>A (p.Arg135Gln)	rs138047529	0.00034
NM_014444.5(TUBGCP4):c.1746G>T (p.Leu582=)	rs200092283	0.00034
NM_018062.4(FANCL):c.1007_1009del (p.Ile336_Cys337delinsSer)	rs747253294	0.00034
NM_000553.6(WRN):c.1105C>T (p.Arg369Ter)	rs17847577	0.00033
NM_001001548.3(CD36):c.268C>T (p.Pro90Ser)	rs75326924	0.00033
NM_001103146.3(GIGYF2):c.167A>G (p.Asn56Ser)	rs72554080	0.00033
NM_001127701.1(SERPINA1):c.839A>T (p.Asp280Val)	rs121912714	0.00033
NM_006364.4(SEC23A):c.2104A>G (p.Met702Val)	rs138568622	0.00033
NM_018117.12(WDR11):c.3450T>G (p.Phe1150Leu)	rs139007744	0.00033
NM_000371.4(TTR):c.371G>A (p.Arg124His)	rs121918095	0.00032
NM_000536.4(RAG2):c.644C>T (p.Thr215Ile)	rs35691292	0.00032
NM_001103146.3(GIGYF2):c.1370A>C (p.Asn457Thr)	rs116074753	0.00032
NM_001145304.2(IQCN):c.2453_2454del (p.Gln818fs)	rs769441295	0.00032
NM_001346754.2(PIGW):c.106A>G (p.Arg36Gly)	rs142067039	0.00032
NM_004183.4(BEST1):c.422G>A (p.Arg141His)	rs121918284	0.00032
NM_014249.4(NR2E3):c.932G>A (p.Arg311Gln)	rs28937873	0.00032
NM_022042.4(SLC26A1):c.1073C>T (p.Ser358Leu)	rs148832260	0.00032
NM_000784.4(CYP27A1):c.1183C>T (p.Arg395Cys)	rs121908096	0.00031
NM_001211.6(BUB1B):c.2763G>C (p.Gln921His)	rs28989183	0.00031
NM_005543.4(INSL3):c.305G>A (p.Arg102His)	rs121912556	0.00031
NM_012452.3(TNFRSF13B):c.204dup (p.Leu69fs)	rs72553875	0.00031
NM_153747.2(PIGC):c.61C>T (p.Arg21Ter)	rs115209243	0.00031
NM_000022.4(ADA):c.643G>A (p.Ala215Thr)	rs114025668	0.00030
NM_000277.3(PAH):c.194T>C (p.Ile65Thr)	rs75193786	0.00030
NM_000372.5(TYR):c.140G>A (p.Gly47Asp)	rs61753180	0.00030
NM_000558.3(HBA1):c.154G>A (p.Gly52Ser)	rs33960522	0.00030
NM_000894.3(LHB):c.364G>A (p.Gly122Ser)	rs5030774	0.00030
NM_001244710.2(GFPT1):c.331C>T (p.Arg111Cys)	rs201322234	0.00030
NM_001256071.3(RNF213):c.14429G>A (p.Arg4810Lys)	rs112735431	0.00030
NM_001267550.2(TTN):c.45599C>G (p.Ala15200Gly)	rs201057307	0.00030
NM_015662.3(IFT172):c.886C>T (p.Arg296Trp)	rs145541911	0.00030
NM_018897.3(DNAH7):c.6492G>A (p.Met2164Ile)	rs192120666	0.00030
NM_024537.4(CARS2):c.563C>T (p.Thr188Met)	rs142034206	0.00030
NM_025216.3(WNT10A):c.649G>A (p.Asp217Asn)	rs146902156	0.00030
NM_033629.6(TREX1):c.341G>A (p.Arg114His)	rs72556554	0.00030
NM_000372.5(TYR):c.649C>T (p.Arg217Trp)	rs63159160	0.00029
NM_000482.3(APOA4):c.748G>A (p.Glu250Lys)	rs121909576	0.00029
NM_000487.6(ARSA):c.542T>G (p.Ile181Ser)	rs74315457	0.00029
NM_001383.6(DPH1):c.359T>C (p.Leu120Pro)	rs200530055	0.00029
NM_001609.4(ACADSB):c.1159G>A (p.Glu387Lys)	rs188094280	0.00029
NM_005912.3(MC4R):c.523G>A (p.Ala175Thr)	rs121913563	0.00029
NM_014249.4(NR2E3):c.227G>A (p.Arg76Gln)	rs104894493	0.00029
NM_014874.4(MFN2):c.2119C>T (p.Arg707Trp)	rs119103267	0.00029
NM_015375.3(DSTYK):c.654+1G>A	rs201091809	0.00029
NM_152415.3(VPS37A):c.700C>A (p.Leu234Ile)	rs150912414	0.00029
NM_000083.3(CLCN1):c.1238T>G (p.Phe413Cys)	rs121912799	0.00028
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_001375883.1(GPR161):c.-5T>A	rs200635937	0.00028
NM_014321.4(ORC6):c.2T>C (p.Met1Thr)	rs146795505	0.00028
NM_021830.5(TWNK):c.1523A>G (p.Tyr508Cys)	rs80356540	0.00028
NM_024120.5(NDUFAF5):c.327G>C (p.Lys109Asn)	rs150613320	0.00028
NM_025114.4(CEP290):c.2991+1655A>G	rs281865192	0.00028
NM_139281.3(WDR36):c.896A>G (p.Asn299Ser)	rs118204022	0.00028
NM_000049.4(ASPA):c.854A>C (p.Glu285Ala)	rs28940279	0.00027
NM_000104.4(CYP1B1):c.155C>T (p.Pro52Leu)	rs201824781	0.00027
NM_000137.4(FAH):c.1062+5G>A	rs80338901	0.00027
NM_000303.3(PMM2):c.722G>C (p.Cys241Ser)	rs80338709	0.00027
NM_001103.4(ACTN2):c.1484C>T (p.Thr495Met)	rs200248944	0.00027
NM_001267550.2(TTN):c.835C>T (p.Arg279Trp)	rs138060032	0.00027
NM_001930.4(DHPS):c.1014+1G>A	rs142633494	0.00027
NM_001953.5(TYMP):c.622G>A (p.Val208Met)	rs121913039	0.00027
NM_015275.3(WASHC4):c.1508A>G (p.His503Arg)	rs201428088	0.00027
NM_022168.4(IFIH1):c.2016del (p.Asp673fs)	rs773033563	0.00027
NM_054012.4(ASS1):c.1168G>A (p.Gly390Arg)	rs121908641	0.00027
NM_147191.1(MMP21):c.1203G>A (p.Trp401Ter)	rs137955225	0.00027
NM_000071.3(CBS):c.1330G>A (p.Asp444Asn)	rs28934891	0.00026
NM_000100.4(CSTB):c.67-1G>C	rs147484110	0.00026
NM_000290.4(PGAM2):c.290G>A (p.Gly97Asp)	rs77938727	0.00026
NM_000402.4(G6PD):c.1039G>A (p.Glu347Lys)	rs137852339	0.00026
NM_001377.3(DYNC2H1):c.9044A>G (p.Asp3015Gly)	rs137853027	0.00026
NM_005033.3(EXOSC9):c.41T>C (p.Leu14Pro)	rs139632595	0.00026
NM_005518.4(HMGCS2):c.634G>A (p.Gly212Arg)	rs137852638	0.00026
NM_007194.4(CHEK2):c.1283C>T (p.Ser428Phe)	rs137853011	0.00026
NM_033109.5(PNPT1):c.1519G>T (p.Ala507Ser)	rs143712760	0.00026
NM_000097.7(CPOX):c.1339C>T (p.Arg447Cys)	rs28931603	0.00025
NM_000132.4(F8):c.3169G>A (p.Glu1057Lys)	rs28933673	0.00025
NM_000359.3(TGM1):c.281G>A (p.Gly94Asp)	rs121918729	0.00025
NM_000361.3(THBD):c.-151G>T	rs16984852	0.00025
NM_000466.3(PEX1):c.2528G>A (p.Gly843Asp)	rs61750420	0.00025
NM_000518.5(HBB):c.93G>T (p.Arg31Ser)	rs1135071	0.00025
NM_001081.4(CUBN):c.3890C>T (p.Pro1297Leu)	rs121434430	0.00025
NM_001083614.2(EARS2):c.328G>A (p.Gly110Ser)	rs201842633	0.00025
NM_001258392.3(CLPB):c.1132A>G (p.Arg378Gly)	rs144078282	0.00025
NM_004168.4(SDHA):c.91C>T (p.Arg31Ter)	rs142441643	0.00025
NM_016146.6(TRAPPC4):c.454+3A>G	rs375776811	0.00025
NM_022095.4(ZNF335):c.3998A>G (p.Glu1333Gly)	rs200635860	0.00025
NM_144573.4(NEXN):c.835C>T (p.Arg279Cys)	rs146245480	0.00025
NM_145059.3(FCSK):c.2980A>C (p.Lys994Gln)	rs199515460	0.00025
NM_152683.4(PRIMPOL):c.265T>G (p.Tyr89Asp)	rs200857997	0.00025
NM_173651.4(FSIP2):c.17798C>T (p.Ser5933Phe)	rs191083003	0.00025
NR_023343.3(RNU4ATAC):n.8C>T	rs370715569	0.00025
NM_001386393.1(PANK2):c.1231G>A (p.Gly411Arg)	rs137852959	0.00024
NM_006488.3(KHK):c.118G>A (p.Gly40Arg)	rs104893643	0.00024
NM_016004.5(IFT52):c.775G>C (p.Asp259His)	rs149821266	0.00024
NM_017909.4(RMND1):c.713A>G (p.Asn238Ser)	rs144972972	0.00024
NM_032387.5(WNK4):c.3553C>T (p.Arg1185Cys)	rs137853095	0.00024
NM_172201.2(KCNE2):c.161T>C (p.Met54Thr)	rs74315447	0.00024
NM_182760.4(SUMF1):c.836C>T (p.Ala279Val)	rs137852849	0.00024
NM_198060.4(NRAP):c.4504C>T (p.Arg1502Ter)	rs201084642	0.00024
NM_000066.4(C8B):c.271C>T (p.Gln91Ter)	rs146187042	0.00023
NM_000130.5(F5):c.1000A>G (p.Arg334Gly)	rs118203905	0.00023
NM_000342.4(SLC4A1):c.1972G>A (p.Glu658Lys)	rs75731670	0.00023
NM_000350.3(ABCA4):c.4139C>T (p.Pro1380Leu)	rs61750130	0.00023
NM_000519.3(HBD):c.410G>A (p.Gly137Asp)	rs35849348	0.00023
NM_001182.5(ALDH7A1):c.1279G>C (p.Glu427Gln)	rs121912707	0.00023
NM_001379286.1(ZNF423):c.2762C>T (p.Pro921Leu)	rs200585917	0.00023
NM_001395413.1(POR):c.850G>C (p.Ala284Pro)	rs121912974	0.00023
NM_006901.4(MYO9A):c.5093A>G (p.Asp1698Gly)	rs150726107	0.00023
NM_014270.5(SLC7A9):c.368C>T (p.Thr123Met)	rs79987078	0.00023
NM_015656.2(KIF26A):c.2161C>T (p.Arg721Cys)	rs371784932	0.00023
NM_018055.5(NODAL):c.548G>A (p.Arg183Gln)	rs104894169	0.00023
NM_032043.3(BRIP1):c.139C>G (p.Pro47Ala)	rs28903098	0.00023
NM_000098.3(CPT2):c.149C>A (p.Pro50His)	rs28936375	0.00022
NM_000410.4(HFE):c.157G>A (p.Val53Met)	rs28934889	0.00022
NM_000507.4(FBP1):c.960_961insG (p.Ser321fs)	rs757653154	0.00022
NM_001083961.2(WDR62):c.1576G>A (p.Glu526Lys)	rs147875659	0.00022
NM_001243279.3(ACSF3):c.728C>T (p.Pro243Leu)	rs140986055	0.00022
NM_001364171.2(ODAD1):c.853G>A (p.Ala285Thr)	rs147718607	0.00022
NM_003500.4(ACOX2):c.673C>T (p.Arg225Trp)	rs150832314	0.00022
NM_004360.5(CDH1):c.1018A>G (p.Thr340Ala)	rs116093741	0.00022
NM_005257.6(GATA6):c.551G>A (p.Ser184Asn)	rs387906816	0.00022
NM_176869.3(PPA2):c.380G>T (p.Arg127Leu)	rs139076647	0.00022
NM_000132.4(F8):c.396A>C (p.Glu132Asp)	rs137852388	0.00021
NM_000199.5(SGSH):c.220C>T (p.Arg74Cys)	rs104894636	0.00021
NM_000271.5(NPC1):c.3019C>G (p.Pro1007Ala)	rs80358257	0.00021
NM_000275.3(OCA2):c.2228C>T (p.Pro743Leu)	rs121918167	0.00021
NM_000359.3(TGM1):c.944G>T (p.Arg315Leu)	rs143473912	0.00021
NM_001061.7(TBXAS1):c.1235G>A (p.Arg412Gln)	rs199422117	0.00021
NM_001385.3(DPYS):c.1469G>A (p.Arg490His)	rs189448963	0.00021
NM_002296.4(LBR):c.1114C>T (p.Arg372Cys)	rs200180113	0.00021
NM_003085.5(SNCB):c.368C>A (p.Pro123His)	rs104893937	0.00021
NM_003384.3(VRK1):c.1160G>A (p.Arg387His)	rs1420939606	0.00021
NM_012275.3(IL36RN):c.115+6T>C	rs148755083	0.00021
NM_017802.4(DNAAF5):c.1499G>T (p.Cys500Phe)	rs144405450	0.00021
NM_030780.5(SLC25A32):c.440G>A (p.Arg147His)	rs142329098	0.00021
NM_133459.4(CCBE1):c.472C>T (p.Arg158Cys)	rs121908253	0.00021
NM_145200.5(CABP4):c.370C>T (p.Arg124Cys)	rs121917828	0.00021
NM_000017.4(ACADS):c.1058C>T (p.Ser353Leu)	rs28941773	0.00020
NM_000157.4(GBA1):c.1342G>C (p.Asp448His)	rs1064651	0.00020
NM_000432.4(MYL2):c.37G>A (p.Ala13Thr)	rs104894363	0.00020
NM_001144869.3(LIPT2):c.377T>G (p.Leu126Arg)	rs753904927	0.00020
NM_003049.4(SLC10A1):c.755G>A (p.Arg252His)	rs147226818	0.00020
NM_005505.5(SCARB1):c.523A>G (p.Thr175Ala)	rs187831231	0.00020
NM_014043.4(CHMP2B):c.85A>G (p.Ile29Val)	rs63750818	0.00020
NM_020401.4(NUP107):c.1064G>A (p.Arg355His)	rs747135247	0.00020
NM_000022.4(ADA):c.986C>T (p.Ala329Val)	rs121908715	0.00019
NM_000165.5(GJA1):c.1127G>A (p.Arg376Gln)	rs104893965	0.00019
NM_000180.4(GUCY2D):c.2302C>T (p.Arg768Trp)	rs61750168	0.00019
NM_000249.4(MLH1):c.394G>C (p.Asp132His)	rs28930073	0.00019
NM_000372.5(TYR):c.823G>T (p.Val275Phe)	rs104894314	0.00019
NM_001083614.2(EARS2):c.322C>T (p.Arg108Trp)	rs376103091	0.00019
NM_001193313.2(SUGCT):c.301C>T (p.Arg101Ter)	rs137852862	0.00019
NM_001319074.4(RAX2):c.260G>A (p.Arg87Gln)	rs121908280	0.00019
NM_001369.3(DNAH5):c.10815del (p.Pro3606fs)	rs397515540	0.00019
NM_002226.5(JAG2):c.2044C>T (p.Pro682Ser)	rs200708284	0.00019
NM_002435.3(MPI):c.656G>A (p.Arg219Gln)	rs104894489	0.00019
NM_002800.5(PSMB9):c.494G>A (p.Gly165Asp)	rs369359789	0.00019
NM_003119.4(SPG7):c.233T>A (p.Leu78Ter)	rs121918358	0.00019
NM_004004.6(GJB2):c.427C>T (p.Arg143Trp)	rs80338948	0.00019
NM_004947.5(DOCK3):c.3887A>G (p.Lys1296Arg)	rs201184598	0.00019
NM_005035.4(POLRMT):c.748C>G (p.His250Asp)	rs137994680	0.00019
NM_006019.4(TCIRG1):c.1213G>A (p.Gly405Arg)	rs137853150	0.00019
NM_012082.4(ZFPM2):c.2107A>C (p.Met703Leu)	rs121908603	0.00019
NM_014639.4(SKIC3):c.4507C>T (p.Arg1503Cys)	rs200067423	0.00019
NM_019055.6(ROBO4):c.190C>T (p.Arg64Cys)	rs201393279	0.00019
NM_021828.5(HPSE2):c.1465_1466del (p.Asn489fs)	rs397515338	0.00019
NM_022042.4(SLC26A1):c.554C>T (p.Thr185Met)	rs139024319	0.00019
NM_031889.3(ENAM):c.1259_1260insAG (p.Pro422fs)	rs587776588	0.00019
NM_053013.4(ENO3):c.467G>A (p.Gly156Asp)	rs121918403	0.00019
NM_144687.4(NLRP12):c.1054C>T (p.Arg352Cys)	rs199881207	0.00019
NM_145199.3(LIPT1):c.292C>G (p.Arg98Gly)	rs137973334	0.00019
NM_173551.5(ANKS6):c.1322A>G (p.Gln441Arg)	rs377750405	0.00019
NM_175875.5(SIX5):c.472G>A (p.Ala158Thr)	rs80356461	0.00019
NM_000104.4(CYP1B1):c.1159G>A (p.Glu387Lys)	rs55989760	0.00018
NM_000186.4(CFH):c.3628C>T (p.Arg1210Cys)	rs121913059	0.00018
NM_000350.3(ABCA4):c.6079C>T (p.Leu2027Phe)	rs61751408	0.00018
NM_000441.2(SLC26A4):c.919-2A>G	rs111033313	0.00018
NM_000488.4(SERPINC1):c.236G>A (p.Arg79His)	rs121909552	0.00018
NM_000535.7(PMS2):c.137G>T (p.Ser46Ile)	rs121434629	0.00018
NM_001038.6(SCNN1A):c.340G>A (p.Val114Ile)	rs61759861	0.00018
NM_001126108.2(SLC12A3):c.2549T>C (p.Leu850Pro)	rs121909379	0.00018
NM_002905.5(RDH5):c.712G>T (p.Gly238Trp)	rs62638191	0.00018
NM_004621.6(TRPC6):c.428A>G (p.Asn143Ser)	rs121434391	0.00018
NM_005530.3(IDH3A):c.938T>C (p.Met313Thr)	rs149862950	0.00018
NM_005592.4(MUSK):c.2368G>A (p.Val790Met)	rs199476083	0.00018
NM_006363.6(SEC23B):c.40C>T (p.Arg14Trp)	rs121918222	0.00018
NM_014270.5(SLC7A9):c.313G>A (p.Gly105Arg)	rs121908480	0.00018
NM_015141.4(GPD1L):c.247G>A (p.Glu83Lys)	rs72552292	0.00018
NM_198253.3(TERT):c.604G>A (p.Ala202Thr)	rs121918661	0.00018
NM_000104.4(CYP1B1):c.182G>A (p.Gly61Glu)	rs28936700	0.00017
NM_000156.6(GAMT):c.327G>A (p.Lys109=)	rs80338735	0.00017
NM_000159.4(GCDH):c.1204C>T (p.Arg402Trp)	rs121434369	0.00017
NM_000402.4(G6PD):c.1478G>A (p.Arg493His)	rs72554664	0.00017
NM_000414.4(HSD17B4):c.46G>A (p.Gly16Ser)	rs137853096	0.00017
NM_000431.4(MVK):c.803T>C (p.Ile268Thr)	rs104895304	0.00017
NM_000550.3(TYRP1):c.277C>T (p.Arg93Cys)	rs387907171	0.00017
NM_001002294.3(FMO3):c.1474C>T (p.Arg492Trp)	rs72549334	0.00017
NM_001202.6(BMP4):c.272C>G (p.Ser91Cys)	rs121912767	0.00017
NM_001243279.3(ACSF3):c.1411C>T (p.Arg471Trp)	rs138680796	0.00017
NM_001276277.3(PPIP5K2):c.2510G>A (p.Arg837His)	rs548137246	0.00017
NM_001278309.2(AKAP3):c.44G>A (p.Cys15Tyr)	rs150896332	0.00017
NM_001326411.2(PISD):c.830G>A (p.Arg277Gln)	rs147371584	0.00017
NM_001349232.2(ATG7):c.1975C>T (p.Arg659Ter)	rs201706487	0.00017
NM_003937.3(KYNU):c.256dup (p.Tyr86fs)	rs550079487	0.00017
NM_004004.6(GJB2):c.-23+1G>A	rs80338940	0.00017
NM_015274.3(MAN2B2):c.112G>A (p.Asp38Asn)	rs200406024	0.00017
NM_016035.5(COQ4):c.718C>T (p.Arg240Cys)	rs143441644	0.00017
NM_016111.4(TELO2):c.1100G>T (p.Cys367Phe)	rs202020308	0.00017
NM_016222.4(DDX41):c.490C>T (p.Arg164Trp)	rs142143752	0.00017
NM_032977.4(CASP10):c.853C>T (p.Leu285Phe)	rs17860403	0.00017
NM_172250.3(MMAA):c.433C>T (p.Arg145Ter)	rs104893851	0.00017
NM_000170.3(GLDC):c.1691G>T (p.Ser564Ile)	rs121964974	0.00016
NM_000231.3(SGCG):c.787G>A (p.Glu263Lys)	rs104894423	0.00016
NM_000335.5(SCN5A):c.3157G>A (p.Glu1053Lys)	rs137854617	0.00016
NM_000348.4(SRD5A2):c.680G>A (p.Arg227Gln)	rs9332964	0.00016
NM_000463.3(UGT1A1):c.1456T>G (p.Tyr486Asp)	rs34993780	0.00016
NM_000477.7(ALB):c.1195G>A (p.Asp399Asn)	rs77514449	0.00016
NM_000492.4(CFTR):c.3909C>G (p.Asn1303Lys)	rs80034486	0.00016
NM_001143992.2(WRAP53):c.1192C>T (p.Arg398Trp)	rs281865548	0.00016
NM_001204.7(BMPR2):c.545G>A (p.Gly182Asp)	rs137852754	0.00016
NM_001286577.2(C2CD3):c.3911-2A>T	rs149366137	0.00016
NM_004130.4(GYG1):c.143+3G>C	rs370652040	0.00016
NM_004153.4(ORC1):c.314G>A (p.Arg105Gln)	rs143141689	0.00016
NM_004562.3(PRKN):c.719C>T (p.Thr240Met)	rs137853054	0.00016
NM_005912.3(MC4R):c.508A>G (p.Ile170Val)	rs121913560	0.00016
NM_006767.4(LZTR1):c.264-13G>A	rs587777176	0.00016
NM_014321.4(ORC6):c.449+5G>A	rs572314014	0.00016
NM_014384.3(ACAD8):c.1129G>A (p.Gly377Ser)	rs121908419	0.00016
NM_024079.5(ALG8):c.1038+1G>T	rs202112771	0.00016
NM_032043.3(BRIP1):c.2392C>T (p.Arg798Ter)	rs137852986	0.00016
NM_057176.3(BSND):c.139G>A (p.Gly47Arg)	rs74315289	0.00016
NM_145059.3(FCSK):c.2047C>T (p.Arg683Cys)	rs755169246	0.00016
NM_152269.5(MTRFR):c.210del (p.Gly72fs)	rs576462794	0.00016
NR_003051.4(RMRP):n.240C>T	rs749667892	0.00016
NM_000277.3(PAH):c.782G>A (p.Arg261Gln)	rs5030849	0.00015
NM_000441.2(SLC26A4):c.1151A>G (p.Glu384Gly)	rs111033244	0.00015
NM_000478.6(ALPL):c.526G>A (p.Ala176Thr)	rs121918019	0.00015
NM_000492.4(CFTR):c.1046C>T (p.Ala349Val)	rs121909021	0.00015
NM_001098816.3(TENM4):c.3412G>A (p.Val1138Met)	rs538881762	0.00015
NM_001267052.2(UNC45B):c.2326C>T (p.Arg776Trp)	rs199583516	0.00015
NM_001378778.1(MPDZ):c.4469del (p.Gln1490fs)	rs781251438	0.00015
NM_002471.4(MYH6):c.3195G>C (p.Gln1065His)	rs267606904	0.00015
NM_003647.3(DGKE):c.966G>A (p.Trp322Ter)	rs138924661	0.00015
NM_016286.4(DCXR):c.52+1G>A	rs375243154	0.00015
NM_018191.4(RCBTB1):c.973C>T (p.His325Tyr)	rs200826424	0.00015
NM_018972.4(GDAP1):c.692C>T (p.Pro231Leu)	rs121908114	0.00015
NM_020191.4(MRPS22):c.509G>A (p.Arg170His)	rs119478059	0.00015
NM_021912.5(GABRB3):c.44C>T (p.Ser15Phe)	rs121913126	0.00015
NM_024105.4(ALG12):c.437G>A (p.Arg146Gln)	rs121907932	0.00015
NM_025132.4(WDR19):c.3533G>A (p.Arg1178Gln)	rs79436363	0.00015
NM_032737.4(LMNB2):c.265-6C>T	rs267607650	0.00015
NM_052845.4(MMAB):c.556C>T (p.Arg186Trp)	rs28941784	0.00015
NM_000048.4(ASL):c.857A>G (p.Gln286Arg)	rs28941472	0.00014
NM_000159.4(GCDH):c.1198G>A (p.Val400Met)	rs121434372	0.00014
NM_000281.4(PCBD1):c.292C>T (p.Gln98Ter)	rs121913015	0.00014
NM_000348.4(SRD5A2):c.547G>A (p.Gly183Ser)	rs121434247	0.00014
NM_000350.3(ABCA4):c.5338C>G (p.Pro1780Ala)	rs121909207	0.00014
NM_000372.5(TYR):c.1467dup (p.Ala490fs)	rs61754399	0.00014
NM_000402.4(G6PD):c.556G>A (p.Glu186Lys)	rs137852313	0.00014
NM_000517.4(HBA2):c.80C>T (p.Ala27Val)	rs281864822	0.00014
NM_001363711.2(DUOX2):c.1126C>T (p.Arg376Trp)	rs119472029	0.00014
NM_003748.4(ALDH4A1):c.1055C>T (p.Ser352Leu)	rs137852937	0.00014
NM_005689.4(ABCB6):c.717G>A (p.Trp239Ter)	rs148458820	0.00014
NM_007031.2(HSF2BP):c.500C>T (p.Ser167Leu)	rs200655253	0.00014
NM_014270.5(SLC7A9):c.782C>T (p.Pro261Leu)	rs121908486	0.00014
NM_014669.5(NUP93):c.1772G>T (p.Gly591Val)	rs145473779	0.00014
NM_017777.4(MKS1):c.417G>A (p.Glu139=)	rs386834048	0.00014
NM_020774.4(MIB1):c.2827G>T (p.Val943Phe)	rs200035428	0.00014
NM_024339.5(THOC6):c.569G>A (p.Gly190Glu)	rs199795381	0.00014
NM_032635.4(TMEM147):c.19G>C (p.Gly7Arg)	rs200901862	0.00014
NM_033118.4(MYLK2):c.260C>T (p.Ala87Val)	rs121908107	0.00014
NM_130849.4(SLC39A4):c.599C>T (p.Pro200Leu)	rs121434287	0.00014
NM_000016.6(ACADM):c.799G>A (p.Gly267Arg)	rs121434274	0.00013
NM_000023.4(SGCA):c.850C>T (p.Arg284Cys)	rs137852623	0.00013
NM_000112.4(SLC26A2):c.1957T>A (p.Cys653Ser)	rs104893924	0.00013
NM_000165.5(GJA1):c.1085G>A (p.Arg362Gln)	rs2227885	0.00013
NM_000329.3(RPE65):c.11+5G>A	rs61751276	0.00013
NM_000337.6(SGCD):c.451T>G (p.Ser151Ala)	rs121909298	0.00013
NM_000517.6(HBA2):c.369C>G (p.His123Gln)	rs41479347	0.00013
NM_000756.4(CRH):c.89C>G (p.Pro30Arg)	rs748404250	0.00013
NM_000784.4(CYP27A1):c.1016C>T (p.Thr339Met)	rs121908102	0.00013
NM_001195305.3(BBIP1):c.38-6T>C	rs541703290	0.00013
NM_001242896.3(DEPDC5):c.2591C>T (p.Thr864Met)	rs564667614	0.00013
NM_001377.3(DYNC2H1):c.11726G>A (p.Gly3909Asp)	rs201479015	0.00013
NM_001379081.2(FREM1):c.3971T>G (p.Leu1324Arg)	rs281875281	0.00013
NM_001737.5(C9):c.355T>G (p.Cys119Gly)	rs121909593	0.00013
NM_001982.4(ERBB3):c.4009G>A (p.Ala1337Thr)	rs755855285	0.00013
NM_003106.4(SOX2):c.571G>A (p.Ala191Thr)	rs104893808	0.00013
NM_005236.3(ERCC4):c.2395C>T (p.Arg799Trp)	rs121913049	0.00013
NM_014140.4(SMARCAL1):c.2542G>T (p.Glu848Ter)	rs119473033	0.00013
NM_016327.3(UPB1):c.209G>C (p.Arg70Pro)	rs121908066	0.00013
NM_017819.4(TRMT10C):c.542G>T (p.Arg181Leu)	rs199730889	0.00013
NM_022437.3(ABCG8):c.1234C>T (p.Arg412Ter)	rs137852991	0.00013
NM_031448.6(C19orf12):c.154G>C (p.Ala52Pro)	rs376103979	0.00013
NM_144670.6(A2ML1):c.2405G>A (p.Arg802His)	rs201562272	0.00013
NM_147127.5(EVC2):c.2848C>T (p.Arg950Trp)	rs137852928	0.00013
NM_206933.4(USH2A):c.2802T>G (p.Cys934Trp)	rs201527662	0.00013
NM_000113.3(TOR1A):c.613T>A (p.Phe205Ile)	rs267607134	0.00012
NM_000187.4(HGD):c.1112A>G (p.His371Arg)	rs120074172	0.00012
NM_000243.3(MEFV):c.2080A>G (p.Met694Val)	rs61752717	0.00012
NM_000477.7(ALB):c.1721A>G (p.Asp574Gly)	rs79738788	0.00012
NM_000521.4(HEXB):c.1627G>A (p.Ala543Thr)	rs121907984	0.00012
NM_000618.5(IGF1):c.*265T>A	rs771502062	0.00012
NM_000709.4(BCKDHA):c.1312T>A (p.Tyr438Asn)	rs137852870	0.00012
NM_001171.6(ABCC6):c.3490C>T (p.Arg1164Ter)	rs72653744	0.00012
NM_001298.3(CNGA3):c.1669G>A (p.Gly557Arg)	rs104893615	0.00012
NM_002381.5(MATN3):c.209G>A (p.Arg70His)	rs104893640	0.00012
NM_006205.3(PDE6H):c.35C>G (p.Ser12Ter)	rs200311463	0.00012
NM_006345.4(SLC30A9):c.40del (p.Ser14fs)	rs767078182	0.00012
NM_013391.3(DMGDH):c.101+2T>C	rs56774046	0.00012
NM_014270.5(SLC7A9):c.695A>G (p.Tyr232Cys)	rs121908487	0.00012
NM_014625.4(NPHS2):c.868G>A (p.Val290Met)	rs200482683	0.00012
NM_015450.3(POT1):c.670G>A (p.Asp224Asn)	rs202187871	0.00012
NM_016222.4(DDX41):c.3G>A (p.Met1Ile)	rs141601766	0.00012
NM_017872.5(THG1L):c.164T>C (p.Val55Ala)	rs201920319	0.00012
NM_018116.4(MSTO1):c.706G>C (p.Asp236His)	rs753488873	0.00012
NM_053013.4(ENO3):c.1121G>A (p.Gly374Glu)	rs121918404	0.00012
NM_139027.6(ADAMTS13):c.3070T>G (p.Cys1024Gly)	rs121908472	0.00012
NM_170707.4(LMNA):c.1718C>T (p.Ser573Leu)	rs60890628	0.00012
NM_194436.3(LDHD):c.1319C>T (p.Thr440Met)	rs764877688	0.00012
NM_000209.4(PDX1):c.52T>C (p.Cys18Arg)	rs137852785	0.00011
NM_000243.3(MEFV):c.800C>T (p.Thr267Ile)	rs104895081	0.00011
NM_000365.6(TPI1):c.315G>C (p.Glu105Asp)	rs121964845	0.00011
NM_000370.3(TTPA):c.575G>A (p.Arg192His)	rs121917850	0.00011
NM_000441.2(SLC26A4):c.85G>C (p.Glu29Gln)	rs111033205	0.00011
NM_000514.4(GDNF):c.633C>G (p.Ile211Met)	rs121918536	0.00011
NM_000518.5(HBB):c.27dup (p.Ser10fs)	rs35699606	0.00011
NM_000540.3(RYR1):c.1840C>T (p.Arg614Cys)	rs118192172	0.00011
NM_001079866.2(BCS1L):c.550C>T (p.Arg184Cys)	rs121908578	0.00011
NM_001080397.3(SLC45A1):c.629C>T (p.Ala210Val)	rs150539474	0.00011
NM_001110792.2(MECP2):c.1318G>A (p.Gly440Ser)	rs61753971	0.00011
NM_001127701.1(SERPINA1):c.1178C>T (p.Pro393Leu)	rs199422209	0.00011
NM_001352754.2(ARMC9):c.1027C>T (p.Arg343Cys)	rs759799287	0.00011
NM_001735.3(C5):c.2654G>A (p.Arg885His)	rs56040400	0.00011
NM_001739.2(CA5A):c.555G>A (p.Lys185=)	rs147623570	0.00011
NM_001918.5(DBT):c.827T>G (p.Phe276Cys)	rs121964999	0.00011
NM_002768.5(CHMP1A):c.88C>T (p.Gln30Ter)	rs397515426	0.00011
NM_002769.5(PRSS1):c.235G>A (p.Glu79Lys)	rs111033564	0.00011
NM_003359.4(UGDH):c.193C>T (p.Arg65Ter)	rs200059198	0.00011
NM_003477.3(PDHX):c.44G>A (p.Arg15His)	rs387906998	0.00011
NM_003896.4(ST3GAL5):c.1063G>A (p.Glu355Lys)	rs534438354	0.00011
NM_004004.6(GJB2):c.229T>C (p.Trp77Arg)	rs104894397	0.00011
NM_004933.3(CDH15):c.274C>T (p.Arg92Trp)	rs121434540	0.00011
NM_005138.3(SCO2):c.418G>A (p.Glu140Lys)	rs74315511	0.00011
NM_005186.4(CAPN1):c.1605+5G>A	rs375817528	0.00011
NM_005477.3(HCN4):c.2522C>T (p.Ser841Leu)	rs200546024	0.00011
NM_005956.4(MTHFD1):c.146C>T (p.Ser49Phe)	rs370444838	0.00011
NM_005989.4(AKR1D1):c.593C>T (p.Pro198Leu)	rs121918342	0.00011
NM_006329.4(FBLN5):c.1051C>T (p.Arg351Trp)	rs28939073	0.00011
NM_006567.5(FARS2):c.1082C>T (p.Pro361Leu)	rs751459058	0.00011
NM_007186.6(CEP250):c.4006C>T (p.Arg1336Ter)	rs774702094	0.00011
NM_014889.4(PITRM1):c.2792C>T (p.Thr931Met)	rs187308159	0.00011
NM_015141.4(GPD1L):c.839C>T (p.Ala280Val)	rs72552291	0.00011
NM_015910.7(WDPCP):c.160G>A (p.Asp54Asn)	rs200322968	0.00011
NM_016630.7(SPG21):c.118C>T (p.Arg40Ter)	rs555126484	0.00011
NM_017825.3(ADPRS):c.1004T>G (p.Val335Gly)	rs201735454	0.00011
NM_018006.5(TRMU):c.835G>A (p.Val279Met)	rs387907022	0.00011
NM_018718.3(CEP41):c.107T>C (p.Met36Thr)	rs368178632	0.00011
NM_020365.5(EIF2B3):c.260C>T (p.Ala87Val)	rs113994022	0.00011
NM_020442.6(VARS2):c.2467-2A>G	rs200075594	0.00011
NM_020549.5(CHAT):c.629T>C (p.Leu210Pro)	rs121912820	0.00011
NM_022436.3(ABCG5):c.1336C>T (p.Arg446Ter)	rs199689137	0.00011
NM_024753.5(TTC21B):c.626C>T (p.Pro209Leu)	rs140511594	0.00011
NM_031471.6(FERMT3):c.922G>A (p.Gly308Arg)	rs748770309	0.00011
NM_033068.3(ACP4):c.331C>T (p.Arg111Cys)	rs202073531	0.00011
NM_078470.6(COX15):c.396-3C>G	rs200910834	0.00011
NM_144988.4(ALG14):c.220G>A (p.Asp74Asn)	rs769114543	0.00011
NM_203395.3(IYD):c.658G>A (p.Ala220Thr)	rs121918140	0.00011
NR_029422.2(RNU12):n.86G>A	rs548281798	0.00011
NM_000035.4(ALDOB):c.178C>T (p.Arg60Ter)	rs118204429	0.00010
NM_000055.4(BCHE):c.1004T>C (p.Leu335Pro)	rs104893684	0.00010
NM_000080.4(CHRNE):c.710G>T (p.Arg237Leu)	rs201434993	0.00010
NM_000243.3(MEFV):c.2282G>A (p.Arg761His)	rs104895097	0.00010
NM_000249.4(MLH1):c.-42C>T	rs41285097	0.00010
NM_000277.3(PAH):c.842C>T (p.Pro281Leu)	rs5030851	0.00010
NM_000369.5(TSHR):c.484C>G (p.Pro162Ala)	rs121908863	0.00010
NM_000392.5(ABCC2):c.2302C>T (p.Arg768Trp)	rs56199535	0.00010
NM_000402.4(G6PD):c.961G>A (p.Val321Met)	rs137852327	0.00010
NM_000487.6(ARSA):c.511G>A (p.Asp171Asn)	rs74315466	0.00010
NM_000518.5(HBB):c.93-21G>A	rs35004220	0.00010
NM_001003722.2(GLE1):c.1706G>A (p.Arg569His)	rs121434407	0.00010
NM_001098.3(ACO2):c.2135C>T (p.Pro712Leu)	rs375761361	0.00010
NM_001127178.3(PIGG):c.2005C>T (p.Arg669Cys)	rs372392424	0.00010
NM_001258244.2(TMEM218):c.238C>T (p.Arg80Cys)	rs141744337	0.00010
NM_001282225.2(ADA2):c.139G>A (p.Gly47Arg)	rs202134424	0.00010
NM_001370658.1(BTD):c.1535C>T (p.Thr512Met)	rs104893688	0.00010
NM_001374385.1(ATP8B1):c.1982T>C (p.Ile661Thr)	rs121909100	0.00010
NM_001953.5(TYMP):c.665A>G (p.Lys222Arg)	rs149977726	0.00010
NM_002109.6(HARS1):c.410G>A (p.Arg137Gln)	rs191391414	0.00010
NM_002241.5(KCNJ10):c.1042C>T (p.Arg348Cys)	rs137853074	0.00010
NM_003244.4(TGIF1):c.451A>G (p.Thr151Ala)	rs121909068	0.00010
NM_003504.5(CDC45):c.469C>T (p.Arg157Cys)	rs540217942	0.00010
NM_004082.5(DCTN1):c.2353C>T (p.Arg785Trp)	rs121909344	0.00010
NM_004153.4(ORC1):c.1996C>T (p.Arg666Trp)	rs201253919	0.00010
NM_004184.4(WARS1):c.1255G>A (p.Asp419Asn)	rs550196955	0.00010
NM_004608.4(TBX6):c.434C>T (p.Pro145Leu)	rs202193096	0.00010
NM_004994.3(MMP9):c.2T>A (p.Met1Lys)	rs121434556	0.00010
NM_006261.5(PROP1):c.349T>A (p.Phe117Ile)	rs121917840	0.00010
NM_007059.4(KPTN):c.597_598dup (p.Ser200fs)	rs766372684	0.00010
NM_012275.3(IL36RN):c.142C>T (p.Arg48Trp)	rs151325121	0.00010
NM_016111.4(TELO2):c.2296G>A (p.Val766Met)	rs371675497	0.00010
NM_016327.3(UPB1):c.105-2A>G	rs138081800	0.00010
NM_016401.4(HIKESHI):c.160G>C (p.Val54Leu)	rs202003795	0.00010
NM_018082.6(POLR3B):c.2084-6A>G	rs747912710	0.00010
NM_020442.6(VARS2):c.511C>T (p.Arg171Trp)	rs139515727	0.00010
NM_020632.3(ATP6V0A4):c.2458G>A (p.Gly820Arg)	rs267606671	0.00010
NM_021095.4(SLC5A6):c.1865_1866del (p.Gln622fs)	rs774193816	0.00010
NM_021957.4(GYS2):c.1436C>A (p.Pro479Gln)	rs121918420	0.00010
NM_023110.3(FGFR1):c.1409G>T (p.Arg470Leu)	rs121909637	0.00010
NM_024334.3(TMEM43):c.169G>A (p.Ala57Thr)	rs151010429	0.00010
NM_031293.3(PMFBP1):c.2725C>T (p.Arg909Ter)	rs140352254	0.00010
NM_031885.5(BBS2):c.1895G>C (p.Arg632Pro)	rs138043021	0.00010
NM_144573.4(NEXN):c.1955A>G (p.Tyr652Cys)	rs137853197	0.00010
NM_176787.5(PIGN):c.548_549+6del	rs779636222	0.00010
NM_176824.3(BBS7):c.968A>G (p.His323Arg)	rs119466001	0.00010
NM_177531.6(PKHD1L1):c.7437C>A (p.His2479Gln)	rs529097022	0.00010
NM_198994.3(TGM6):c.980A>G (p.Asp327Gly)	rs387907098	0.00010
NM_203290.4(POLR1C):c.836G>A (p.Arg279Gln)	rs191582628	0.00010
NM_207122.2(EXT2):c.1916C>T (p.Thr639Met)	rs138722406	0.00010
NM_000022.4(ADA):c.632G>A (p.Arg211His)	rs121908716	0.00009
NM_000170.3(GLDC):c.2607C>A (p.Pro869=)	rs386833565	0.00009
NM_000277.3(PAH):c.1045T>C (p.Ser349Pro)	rs62508646	0.00009
NM_000392.5(ABCC2):c.3449G>A (p.Arg1150His)	rs72558200	0.00009
NM_000448.3(RAG1):c.1566G>T (p.Trp522Cys)	rs193922461	0.00009
NM_000477.5(ALB):c.67C>T (p.Arg23Cys)	rs80008208	0.00009
NM_000477.7(ALB):c.725G>A (p.Arg242His)	rs75002628	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_000558.5(HBA1):c.237del (p.Asn79fs)	rs767911847	0.00009
NM_000687.4(AHCY):c.428A>G (p.Tyr143Cys)	rs121918608	0.00009
NM_000890.5(KCNJ5):c.1159G>C (p.Gly387Arg)	rs199830292	0.00009
NM_001038603.3(MARVELD2):c.1498C>T (p.Arg500Ter)	rs118203957	0.00009
NM_001061.7(TBXAS1):c.245T>C (p.Leu82Pro)	rs140005285	0.00009
NM_001081.4(CUBN):c.9053A>C (p.Tyr3018Ser)	rs370778353	0.00009
NM_001102564.3(IFT43):c.100G>A (p.Glu34Lys)	rs140366557	0.00009
NM_001126108.2(SLC12A3):c.1964G>A (p.Arg655His)	rs121909380	0.00009
NM_001128126.3(AP4S1):c.289C>T (p.Arg97Ter)	rs200440467	0.00009
NM_001199397.3(NEK1):c.3107C>G (p.Ser1036Ter)	rs199947197	0.00009
NM_001283009.2(RTEL1):c.2956C>T (p.Arg986Ter)	rs373740199	0.00009
NM_001358921.2(COQ2):c.533A>G (p.Asn178Ser)	rs121918232	0.00009
NM_001360.3(DHCR7):c.278C>T (p.Thr93Met)	rs80338853	0.00009
NM_001395891.1(CLASP1):c.196-591C>T	rs756026847	0.00009
NM_001692.4(ATP6V1B1):c.232G>A (p.Gly78Arg)	rs121964881	0.00009
NM_003560.4(PLA2G6):c.2222G>A (p.Arg741Gln)	rs121908686	0.00009
NM_003597.5(KLF11):c.1039G>T (p.Ala347Ser)	rs121912645	0.00009
NM_003690.5(PRKRA):c.665C>T (p.Pro222Leu)	rs121434410	0.00009
NM_004092.4(ECHS1):c.476A>G (p.Gln159Arg)	rs375032130	0.00009
NM_004211.5(SLC6A5):c.1274C>T (p.Thr425Met)	rs121908498	0.00009
NM_005050.4(ABCD4):c.956A>G (p.Tyr319Cys)	rs201777056	0.00009
NM_005094.4(SLC27A4):c.504C>A (p.Cys168Ter)	rs137853131	0.00009
NM_005269.3(GLI1):c.1517T>A (p.Leu506Gln)	rs753690500	0.00009
NM_005472.5(KCNE3):c.296G>A (p.Arg99His)	rs121908441	0.00009
NM_005560.6(LAMA5):c.8842G>A (p.Gly2948Ser)	rs529211517	0.00009
NM_005609.4(PYGM):c.425-26A>G	rs764313717	0.00009
NM_006651.4(CPLX1):c.382C>A (p.Leu128Met)	rs371709824	0.00009
NM_006659.4(TUBGCP2):c.889C>T (p.Arg297Cys)	rs200129338	0.00009
NM_007194.4(CHEK2):c.444+1G>A	rs121908698	0.00009
NM_013382.7(POMT2):c.1997A>G (p.Tyr666Cys)	rs200198778	0.00009
NM_014425.5(INVS):c.2695C>T (p.Arg899Ter)	rs200844390	0.00009
NM_014714.4(IFT140):c.1565G>A (p.Gly522Glu)	rs199826737	0.00009
NM_015087.5(SPART):c.364_365del (p.Met122fs)	rs775736341	0.00009
NM_015681.6(B9D1):c.341+2T>C	rs143149764	0.00009
NM_019616.4(F7):c.854G>A (p.Arg285His)	rs121964929	0.00009
NM_021254.4(CFAP298):c.292C>T (p.Arg98Ter)	rs143740376	0.00009
NM_021871.4(FGA):c.510+1G>T	rs146387238	0.00009
NM_021942.6(TRAPPC11):c.1058C>G (p.Ala353Gly)	rs200078740	0.00009
NM_024407.5(NDUFS7):c.364G>A (p.Val122Met)	rs104894705	0.00009
NM_024516.4(PAGR1):c.274A>G (p.Ser92Gly)	rs375215655	0.00009
NM_024854.5(PYROXD1):c.285+1G>A	rs369083786	0.00009
NM_025216.3(WNT10A):c.383G>A (p.Arg128Gln)	rs121908121	0.00009
NM_030777.4(SLC2A10):c.394C>T (p.Arg132Trp)	rs121908173	0.00009
NM_031433.4(MFRP):c.491_492insT (p.Asn167fs)	rs730882143	0.00009
NM_032620.4(GTPBP3):c.964G>C (p.Ala322Pro)	rs372174278	0.00009
NM_138413.4(HOGA1):c.860G>T (p.Gly287Val)	rs138207257	0.00009
NM_144773.4(PROKR2):c.743G>A (p.Arg248Gln)	rs376142095	0.00009
NM_145262.4(GLYCTK):c.1478T>G (p.Phe493Cys)	rs121909448	0.00009
NM_152268.4(PARS2):c.283G>A (p.Val95Ile)	rs147227819	0.00009
NM_153704.6(TMEM67):c.2498T>C (p.Ile833Thr)	rs267607119	0.00009
NM_175875.5(SIX5):c.886G>A (p.Ala296Thr)	rs80356462	0.00009
NM_198253.3(TERT):c.3268G>A (p.Val1090Met)	rs121918664	0.00009
NM_213622.4(STAMBP):c.112C>T (p.Arg38Cys)	rs143739249	0.00009
NM_000017.4(ACADS):c.1147C>T (p.Arg383Cys)	rs28940872	0.00008
NM_000017.4(ACADS):c.136C>T (p.Arg46Trp)	rs121908003	0.00008
NM_000022.4(ADA):c.221G>T (p.Gly74Val)	rs199422328	0.00008
NM_000097.7(CPOX):c.1210A>G (p.Lys404Glu)	rs121917868	0.00008
NM_000243.3(MEFV):c.1958G>A (p.Arg653His)	rs104895085	0.00008
NM_000274.4(OAT):c.539G>C (p.Arg180Thr)	rs121965040	0.00008
NM_000277.3(PAH):c.1169A>G (p.Glu390Gly)	rs5030856	0.00008
NM_000350.3(ABCA4):c.634C>T (p.Arg212Cys)	rs61750200	0.00008
NM_000402.4(G6PD):c.770G>A (p.Arg257Gln)	rs137852328	0.00008
NM_000492.4(CFTR):c.3659C>T (p.Thr1220Ile)	rs1800123	0.00008
NM_000512.5(GALNS):c.337A>T (p.Ile113Phe)	rs118204438	0.00008
NM_000969.5(RPL5):c.418G>A (p.Gly140Ser)	rs121434406	0.00008
NM_001025389.2(AMPD3):c.1717C>T (p.Arg573Cys)	rs3741040	0.00008
NM_001079866.2(BCS1L):c.547C>T (p.Arg183Cys)	rs144885874	0.00008
NM_001171.6(ABCC6):c.4015C>T (p.Arg1339Cys)	rs28939702	0.00008
NM_001283009.1(RTEL1):c.3791G>A (p.Arg1264His)	rs201540674	0.00008
NM_001284401.2(TAMM41):c.256T>C (p.Ser86Pro)	rs199871047	0.00008
NM_001287491.2(TET3):c.2254C>T (p.Arg752Cys)	rs534089911	0.00008
NM_001735.3(C5):c.2653C>T (p.Arg885Cys)	rs373359894	0.00008
NM_002098.6(GUCA1B):c.469G>A (p.Gly157Arg)	rs121909124	0.00008
NM_003865.3(HESX1):c.541A>G (p.Thr181Ala)	rs28936704	0.00008
NM_004269.4(MED27):c.839C>T (p.Pro280Leu)	rs778593272	0.00008
NM_004837.4(GGPS1):c.782G>A (p.Arg261His)	rs1262402879	0.00008
NM_005035.4(POLRMT):c.881C>T (p.Pro294Leu)	rs566027653	0.00008
NM_005142.3(CBLIF):c.137C>T (p.Ser46Leu)	rs121434322	0.00008
NM_005630.3(SLCO2A1):c.1624C>T (p.Arg542Cys)	rs566240756	0.00008
NM_005689.4(ABCB6):c.1942C>T (p.Arg648Ter)	rs376664522	0.00008
NM_005912.3(MC4R):c.380C>T (p.Ser127Leu)	rs13447331	0.00008
NM_006767.4(LZTR1):c.1943-256C>T	rs761685529	0.00008
NM_014714.4(IFT140):c.634G>A (p.Gly212Arg)	rs201188361	0.00008
NM_018116.4(MSTO1):c.836G>A (p.Arg279His)	rs563943670	0.00008
NM_018344.6(SLC29A3):c.347T>G (p.Met116Arg)	rs267607057	0.00008
NM_018480.7(TMEM126B):c.397G>A (p.Asp133Asn)	rs573006534	0.00008
NM_020166.5(MCCC1):c.1155A>C (p.Arg385Ser)	rs119103213	0.00008
NM_022437.3(ABCG8):c.1974C>G (p.Tyr658Ter)	rs137852989	0.00008
NM_023036.6(DNAI2):c.1304G>A (p.Trp435Ter)	rs752924362	0.00008
NM_024079.5(ALG8):c.1090C>T (p.Arg364Ter)	rs376161880	0.00008
NM_024411.5(PDYN):c.414G>T (p.Arg138Ser)	rs267606941	0.00008
NM_025243.4(SLC19A3):c.980-14A>G	rs200542114	0.00008
NM_032409.3(PINK1):c.836G>A (p.Arg279His)	rs74315358	0.00008
NM_032551.5(KISS1R):c.1195T>A (p.Ter399Arg)	rs104894702	0.00008
NM_177550.5(SLC13A5):c.655G>A (p.Gly219Arg)	rs144332569	0.00008
NM_000016.6(ACADM):c.583G>A (p.Gly195Arg)	rs121434278	0.00007
NM_000022.4(ADA):c.320T>C (p.Leu107Pro)	rs121908739	0.00007
NM_000022.4(ADA):c.821C>T (p.Pro274Leu)	rs121908738	0.00007
NM_000048.4(ASL):c.1153C>T (p.Arg385Cys)	rs28940286	0.00007
NM_000085.5(CLCNKB):c.610G>A (p.Ala204Thr)	rs121909132	0.00007
NM_000130.5(F5):c.1001G>C (p.Arg334Thr)	rs118203906	0.00007
NM_000136.3(FANCC):c.1642C>T (p.Arg548Ter)	rs104886457	0.00007
NM_000243.3(MEFV):c.2082G>A (p.Met694Ile)	rs28940578	0.00007
NM_000275.3(OCA2):c.2037G>C (p.Trp679Cys)	rs121918169	0.00007
NM_000290.4(PGAM2):c.266A>C (p.Glu89Ala)	rs104894030	0.00007
NM_000374.5(UROD):c.995G>A (p.Arg332His)	rs121918066	0.00007
NM_000402.4(G6PD):c.185A>G (p.His62Arg)	rs137852340	0.00007
NM_000486.6(AQP2):c.439G>A (p.Ala147Thr)	rs104894334	0.00007
NM_000518.5(HBB):c.389C>T (p.Ala130Val)	rs111645889	0.00007
NM_000518.5(HBB):c.92+6T>C	rs35724775	0.00007
NM_000891.3(KCNJ2):c.277G>A (p.Val93Ile)	rs147750704	0.00007
NM_001034116.2(EIF2B4):c.1120C>T (p.Arg374Cys)	rs113994035	0.00007
NM_001081.4(CUBN):c.1010C>T (p.Pro337Leu)	rs202153130	0.00007
NM_001130987.2(DYSF):c.3191G>A (p.Arg1064His)	rs121908958	0.00007
NM_001177316.2(SLC34A3):c.586G>A (p.Gly196Arg)	rs121918237	0.00007
NM_001303.4(COX10):c.1007A>T (p.Asp336Val)	rs104894557	0.00007
NM_001364171.2(ODAD1):c.1502+5G>A	rs201133219	0.00007
NM_001365999.1(SZT2):c.7474C>T (p.Arg2492Trp)	rs373062274	0.00007
NM_001609.4(ACADSB):c.621G>A (p.Trp207Ter)	rs374420253	0.00007
NM_001761.3(CCNF):c.1861A>G (p.Ser621Gly)	rs778264897	0.00007
NM_001953.5(TYMP):c.433G>A (p.Gly145Arg)	rs121913037	0.00007
NM_002234.4(KCNA5):c.913G>A (p.Ala305Thr)	rs199794307	0.00007
NM_003356.4(UCP3):c.208C>T (p.Arg70Trp)	rs17848368	0.00007
NM_003748.4(ALDH4A1):c.21del (p.Leu8fs)	rs387906314	0.00007
NM_004172.5(SLC1A3):c.1496G>A (p.Arg499Gln)	rs138085358	0.00007
NM_004588.5(SCN2B):c.82C>T (p.Arg28Trp)	rs17121819	0.00007
NM_004933.3(CDH15):c.178C>T (p.Arg60Cys)	rs121434539	0.00007
NM_005476.7(GNE):c.737G>A (p.Arg246Gln)	rs121908629	0.00007
NM_005591.4(MRE11):c.1714C>T (p.Arg572Ter)	rs137852761	0.00007
NM_005609.4(PYGM):c.1768+1G>A	rs771427957	0.00007
NM_005932.4(MIPEP):c.1534C>G (p.His512Asp)	rs779598020	0.00007
NM_005956.4(MTHFD1):c.517C>T (p.Arg173Cys)	rs141210410	0.00007
NM_005994.4(TBX2):c.59G>A (p.Arg20Gln)	rs1364709483	0.00007
NM_006214.4(PHYH):c.823C>T (p.Arg275Trp)	rs104894178	0.00007
NM_006793.5(PRDX3):c.425C>G (p.Ala142Gly)	rs202061531	0.00007
NM_007059.4(KPTN):c.394+1G>A	rs373139784	0.00007
NM_012434.5(SLC17A5):c.406A>G (p.Lys136Glu)	rs80338795	0.00007
NM_014384.3(ACAD8):c.455T>C (p.Met152Thr)	rs121908418	0.00007
NM_015506.3(MMACHC):c.482G>A (p.Arg161Gln)	rs121918243	0.00007
NM_016035.5(COQ4):c.202G>C (p.Asp68His)	rs758522459	0.00007
NM_016222.4(DDX41):c.415_418dup (p.Asp140delinsGlyTer)	rs762890562	0.00007
NM_019023.5(PRMT7):c.1056-1G>T	rs201824659	0.00007
NM_020774.4(MIB1):c.1588C>T (p.Arg530Ter)	rs201850378	0.00007
NM_022089.4(ATP13A2):c.3057del (p.Tyr1020fs)	rs765632065	0.00007
NM_022469.4(GREM2):c.38C>T (p.Ala13Val)	rs373941682	0.00007
NM_024844.5(NUP85):c.1933C>T (p.Arg645Trp)	rs368572297	0.00007
NM_032383.5(HPS3):c.2888-1612G>A	rs281865096	0.00007
NM_144605.5(SEPTIN12):c.266C>T (p.Thr89Met)	rs199696526	0.00007
NM_145059.3(FCSK):c.667T>C (p.Ser223Pro)	rs769009456	0.00007
NM_178170.3(NEK8):c.1795C>T (p.Arg599Ter)	rs375661404	0.00007
NM_182760.4(SUMF1):c.463T>C (p.Ser155Pro)	rs137852850	0.00007
NM_198994.3(TGM6):c.1528G>C (p.Asp510His)	rs201964784	0.00007
NM_206937.2(LIG4):c.2440C>T (p.Arg814Ter)	rs104894419	0.00007
NM_206965.2(FTCD):c.403C>T (p.Arg135Cys)	rs28941768	0.00007
NR_003051.3(RMRP):n.-22_-13dup10	rs1554651507	0.00007
NM_000017.4(ACADS):c.973C>T (p.Arg325Trp)	rs121908006	0.00006
NM_000022.4(ADA):c.446G>A (p.Arg149Gln)	rs121908737	0.00006
NM_000041.4(APOE):c.940A>C (p.Ser314Arg)	rs28931579	0.00006
NM_000049.4(ASPA):c.746A>T (p.Asp249Val)	rs104894552	0.00006
NM_000051.4(ATM):c.7271T>G (p.Val2424Gly)	rs28904921	0.00006
NM_000070.3(CAPN3):c.1469G>A (p.Arg490Gln)	rs121434548	0.00006
NM_000082.4(ERCC8):c.613G>C (p.Ala205Pro)	rs121434326	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_000137.4(FAH):c.1009G>A (p.Gly337Ser)	rs80338900	0.00006
NM_000152.5(GAA):c.953T>C (p.Met318Thr)	rs121907936	0.00006
NM_000157.4(GBA1):c.1504C>T (p.Arg502Cys)	rs80356771	0.00006
NM_000158.4(GBE1):c.1570C>T (p.Arg524Ter)	rs137852888	0.00006
NM_000163.5(GHR):c.726G>C (p.Glu242Asp)	rs45588036	0.00006
NM_000170.3(GLDC):c.2216G>A (p.Arg739His)	rs121964980	0.00006
NM_000187.4(HGD):c.808G>A (p.Gly270Arg)	rs120074174	0.00006
NM_000190.4(HMBS):c.500G>A (p.Arg167Gln)	rs118204095	0.00006
NM_000193.4(SHH):c.676G>A (p.Ala226Thr)	rs104894043	0.00006
NM_000219.6(KCNE1):c.226G>A (p.Asp76Asn)	rs74315445	0.00006
NM_000249.4(MLH1):c.1733A>G (p.Glu578Gly)	rs63751612	0.00006
NM_000260.4(MYO7A):c.652G>A (p.Asp218Asn)	rs201539845	0.00006
NM_000270.4(PNP):c.701G>C (p.Arg234Pro)	rs104894451	0.00006
NM_000271.5(NPC1):c.2974G>C (p.Gly992Arg)	rs80358254	0.00006
NM_000288.4(PEX7):c.340-10A>G	rs267608255	0.00006
NM_000289.6(PFKM):c.237+1G>A	rs202143236	0.00006
NM_000406.3(GNRHR):c.30T>A (p.Asn10Lys)	rs104893843	0.00006
NM_000419.5(ITGA2B):c.1787T>C (p.Ile596Thr)	rs76811038	0.00006
NM_000512.5(GALNS):c.1156C>T (p.Arg386Cys)	rs118204437	0.00006
NM_000517.4(HBA2):c.427T>C (p.Ter143Gln)	rs41464951	0.00006
NM_000518.4(HBB):c.34G>A (p.Val12Ile)	rs33974228	0.00006
NM_000520.6(HEXA):c.806-7G>A	rs770932296	0.00006
NM_000528.4(MAN2B1):c.2426T>C (p.Leu809Pro)	rs80338681	0.00006
NM_000532.5(PCCB):c.1228C>T (p.Arg410Trp)	rs121964959	0.00006
NM_000587.4(C7):c.1135G>C (p.Gly379Arg)	rs121964921	0.00006
NM_000631.5(NCF4):c.759-1G>C	rs200347935	0.00006
NM_000642.3(AGL):c.3980G>A (p.Trp1327Ter)	rs267606640	0.00006
NM_000642.3(AGL):c.4260-12A>G	rs369973784	0.00006
NM_000702.4(ATP1A2):c.193C>T (p.Arg65Trp)	rs121918619	0.00006
NM_001001557.4(GDF6):c.169G>C (p.Asp57His)	rs397514725	0.00006
NM_001036.6(RYR3):c.8939G>T (p.Arg2980Leu)	rs200346049	0.00006
NM_001080442.3(SLC38A8):c.697G>A (p.Glu233Lys)	rs372929441	0.00006
NM_001126128.2(PROK2):c.217C>T (p.Arg73Cys)	rs121434272	0.00006
NM_001127701.1(SERPINA1):c.326C>T (p.Thr109Met)	rs199422213	0.00006
NM_001142800.2(EYS):c.9405T>A (p.Tyr3135Ter)	rs137853190	0.00006
NM_001159773.2(CANT1):c.228dup (p.Trp77fs)	rs587776896	0.00006
NM_001171.6(ABCC6):c.3413G>A (p.Arg1138Gln)	rs60791294	0.00006
NM_001358530.2(MOCS1):c.217C>T (p.Arg73Trp)	rs104893970	0.00006
NM_001361.5(DHODH):c.1036C>T (p.Arg346Trp)	rs201947120	0.00006
NM_001363711.2(DUOX2):c.2524C>T (p.Arg842Ter)	rs119472028	0.00006
NM_001365536.1(SCN9A):c.29A>G (p.Gln10Arg)	rs267607030	0.00006
NM_001374504.1(TMPRSS6):c.1534G>A (p.Asp512Asn)	rs137853120	0.00006
NM_001378969.1(KCND3):c.1348C>T (p.Leu450Phe)	rs150401343	0.00006
NM_001384125.1(BLTP1):c.3986A>G (p.Tyr1329Cys)	rs770791100	0.00006
NM_001414.4(EIF2B1):c.252+1G>A	rs113994006	0.00006
NM_002103.5(GYS1):c.162_163del (p.Asp56fs)	rs587777375	0.00006
NM_002103.5(GYS1):c.678+1G>A	rs755305465	0.00006
NM_002168.4(IDH2):c.419G>A (p.Arg140Gln)	rs121913502	0.00006
NM_002617.4(PEX10):c.814_815del (p.Leu272fs)	rs61752093	0.00006
NM_002863.5(PYGL):c.1620+1G>A	rs113993981	0.00006
NM_003126.4(SPTA1):c.779T>C (p.Leu260Pro)	rs121918634	0.00006
NM_003359.4(UGDH):c.950G>A (p.Arg317Gln)	rs775162839	0.00006
NM_003476.5(CSRP3):c.131T>C (p.Leu44Pro)	rs104894205	0.00006
NM_003560.4(PLA2G6):c.2370T>G (p.Tyr790Ter)	rs121908680	0.00006
NM_003824.4(FADD):c.313T>C (p.Cys105Arg)	rs369869993	0.00006
NM_004092.4(ECHS1):c.583G>A (p.Gly195Ser)	rs761989177	0.00006
NM_004204.5(PIGQ):c.942+1G>A	rs200661329	0.00006
NM_004291.4(CARTPT):c.183G>C (p.Leu61Phe)	rs121909065	0.00006
NM_004820.5(CYP7B1):c.1250G>A (p.Arg417His)	rs121908611	0.00006
NM_005390.5(PDHA2):c.679A>G (p.Met227Val)	rs200969445	0.00006
NM_005431.2(XRCC2):c.643C>T (p.Arg215Ter)	rs143153871	0.00006
NM_005609.4(PYGM):c.2056G>A (p.Gly686Arg)	rs144081869	0.00006
NM_006019.4(TCIRG1):c.1331G>T (p.Arg444Leu)	rs137853151	0.00006
NM_006204.4(PDE6C):c.85C>T (p.Arg29Trp)	rs121918537	0.00006
NM_006440.5(TXNRD2):c.1341T>G (p.Tyr447Ter)	rs202059967	0.00006
NM_006623.4(PHGDH):c.1468G>A (p.Val490Met)	rs121907987	0.00006
NM_006767.4(LZTR1):c.2062C>T (p.Arg688Cys)	rs587777178	0.00006
NM_007194.4(CHEK2):c.541C>T (p.Arg181Cys)	rs137853010	0.00006
NM_007198.4(PLPBP):c.260C>T (p.Pro87Leu)	rs755946598	0.00006
NM_007215.4(POLG2):c.694G>A (p.Gly232Ser)	rs143660836	0.00006
NM_012275.3(IL36RN):c.104A>G (p.Lys35Arg)	rs187015338	0.00006
NM_012434.5(SLC17A5):c.533del (p.Thr178fs)	rs727504156	0.00006
NM_013296.5(GPSM2):c.1661C>A (p.Ser554Ter)	rs145191476	0.00006
NM_014026.6(DCPS):c.947C>T (p.Thr316Met)	rs137941190	0.00006
NM_014714.4(IFT140):c.1377G>A (p.Trp459Ter)	rs140039128	0.00006
NM_015166.4(MLC1):c.274C>T (p.Pro92Ser)	rs121908345	0.00006
NM_015214.3(DDHD2):c.1978G>C (p.Asp660His)	rs375168720	0.00006
NM_015275.3(WASHC4):c.3236A>G (p.Lys1079Arg)	rs748436953	0.00006
NM_015665.6(AAAS):c.787T>C (p.Ser263Pro)	rs121918550	0.00006
NM_016180.5(SLC45A2):c.1082T>C (p.Leu361Pro)	rs121912619	0.00006
NM_017671.5(FERMT1):c.811C>T (p.Arg271Ter)	rs121918293	0.00006
NM_018230.3(NUP133):c.3164T>C (p.Leu1055Ser)	rs376476266	0.00006
NM_018646.6(TRPV6):c.668T>C (p.Ile223Thr)	rs529924080	0.00006
NM_019616.4(F7):c.845C>T (p.Ala282Val)	rs121964931	0.00006
NM_020041.3(SLC2A9):c.374C>T (p.Thr125Met)	rs181509591	0.00006
NM_020158.4(EXOSC5):c.341C>T (p.Thr114Ile)	rs542429051	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_021100.5(NFS1):c.215G>A (p.Arg72Gln)	rs200592030	0.00006
NM_021729.6(VPS11):c.2536T>G (p.Cys846Gly)	rs34757931	0.00006
NM_022437.3(ABCG8):c.1720G>A (p.Gly574Arg)	rs137852988	0.00006
NM_022437.3(ABCG8):c.788G>A (p.Arg263Gln)	rs137852990	0.00006
NM_024063.3(AFG2B):c.606_619dup (p.Glu207fs)	rs765912979	0.00006
NM_025099.6(CTC1):c.2959C>T (p.Arg987Trp)	rs202138550	0.00006
NM_025114.4(CEP290):c.5668G>T (p.Gly1890Ter)	rs137852832	0.00006
NM_030773.4(TUBB1):c.35del (p.Cys12fs)	rs773248042	0.00006
NM_032737.4(LMNB2):c.1279G>A (p.Ala427Thr)	rs57521499	0.00006
NM_052872.4(IL17F):c.284C>T (p.Ser95Leu)	rs748486078	0.00006
NM_053013.4(ENO3):c.452A>G (p.Asn151Ser)	rs560867570	0.00006
NM_138413.4(HOGA1):c.834G>A (p.Ala278=)	rs770050262	0.00006
NM_144988.4(ALG14):c.422T>G (p.Val141Gly)	rs139005007	0.00006
NM_145246.5(FRA10AC1):c.328C>T (p.Arg110Ter)	rs555127846	0.00006
NM_152296.5(ATP1A3):c.55C>T (p.Arg19Cys)	rs782229302	0.00006
NM_152906.7(TANGO2):c.605+1G>A	rs372949028	0.00006
NM_153676.4(USH1C):c.308G>A (p.Arg103His)	rs397514500	0.00006
NM_170784.3(MKKS):c.830T>C (p.Leu277Pro)	rs74315398	0.00006
NM_173596.3(SLC39A5):c.141C>G (p.Tyr47Ter)	rs199624584	0.00006
NM_175914.5(HNF4A):c.340C>T (p.Arg114Trp)	rs137853336	0.00006
NM_181507.2(HPS5):c.285-10A>G	rs200449378	0.00006
NM_181789.4(GLDN):c.95C>A (p.Ala32Glu)	rs779432560	0.00006
NM_182548.4(LHFPL5):c.472C>T (p.Arg158Trp)	rs753739358	0.00006
NM_183235.3(RAB27A):c.550C>T (p.Arg184Ter)	rs200956636	0.00006
NM_198407.2(GHSR):c.709A>T (p.Arg237Trp)	rs199588904	0.00006
NM_198994.3(TGM6):c.1550T>G (p.Leu517Trp)	rs387907097	0.00006
NM_206933.4(USH2A):c.7595-2144A>G	rs786200928	0.00006
NM_206933.4(USH2A):c.956G>A (p.Cys319Tyr)	rs121912599	0.00006
NM_000017.4(ACADS):c.575C>T (p.Ala192Val)	rs28940874	0.00005
NM_000022.4(ADA):c.872C>T (p.Ser291Leu)	rs121908721	0.00005
NM_000030.3(AGXT):c.697C>T (p.Arg233Cys)	rs121908526	0.00005
NM_000030.3(AGXT):c.698G>A (p.Arg233His)	rs121908527	0.00005
NM_000031.6(ALAD):c.36C>G (p.Phe12Leu)	rs121912984	0.00005
NM_000031.6(ALAD):c.397G>A (p.Gly133Arg)	rs121912980	0.00005
NM_000053.4(ATP7B):c.2906G>A (p.Arg969Gln)	rs121907996	0.00005
NM_000053.4(ATP7B):c.3796G>A (p.Gly1266Arg)	rs121907992	0.00005
NM_000108.5(DLD):c.1123G>A (p.Glu375Lys)	rs121964992	0.00005
NM_000119.2(EPB42):c.424G>A (p.Ala142Thr)	rs104894487	0.00005
NM_000124.4(ERCC6):c.2203C>T (p.Arg735Ter)	rs121917901	0.00005
NM_000128.4(F11):c.438C>A (p.Cys146Ter)	rs121965066	0.00005
NM_000129.4(F13A1):c.691-1G>A	rs372296352	0.00005
NM_000132.4(F8):c.121G>T (p.Gly41Cys)	rs137852379	0.00005
NM_000151.4(G6PC1):c.113A>T (p.Asp38Val)	rs104894565	0.00005
NM_000156.6(GAMT):c.59G>C (p.Trp20Ser)	rs80338734	0.00005
NM_000158.4(GBE1):c.1544G>A (p.Arg515His)	rs201958741	0.00005
NM_000169.3(GLA):c.640-801G>A	rs199473684	0.00005
NM_000183.3(HADHB):c.182G>A (p.Arg61His)	rs121913132	0.00005
NM_000211.5(ITGB2):c.817G>A (p.Gly273Arg)	rs137852618	0.00005
NM_000263.4(NAGLU):c.1694G>A (p.Arg565Gln)	rs104894598	0.00005
NM_000274.4(OAT):c.1250C>T (p.Pro417Leu)	rs121965044	0.00005
NM_000281.4(PCBD1):c.259G>T (p.Glu87Ter)	rs104894172	0.00005
NM_000288.4(PEX7):c.649G>A (p.Gly217Arg)	rs121909152	0.00005
NM_000303.3(PMM2):c.691G>A (p.Val231Met)	rs80338707	0.00005
NM_000311.5(PRNP):c.538G>A (p.Val180Ile)	rs74315408	0.00005
NM_000350.3(ABCA4):c.1715G>A (p.Arg572Gln)	rs61748559	0.00005
NM_000391.4(TPP1):c.1094G>A (p.Cys365Tyr)	rs119455954	0.00005
NM_000402.4(G6PD):c.577G>A (p.Gly193Ser)	rs137852314	0.00005
NM_000488.4(SERPINC1):c.235C>T (p.Arg79Cys)	rs121909547	0.00005
NM_000492.4(CFTR):c.3469-20T>C	rs373002889	0.00005
NM_000518.4(HBB):c.220G>A (p.Asp74Asn)	rs33945705	0.00005
NM_000520.6(HEXA):c.460-1G>T	rs764343937	0.00005
NM_000527.5(LDLR):c.910G>A (p.Asp304Asn)	rs121908030	0.00005
NM_000531.6(OTC):c.118C>T (p.Arg40Cys)	rs72554307	0.00005
NM_000532.5(PCCB):c.1304A>G (p.Tyr435Cys)	rs121964961	0.00005
NM_000540.3(RYR1):c.7300G>A (p.Gly2434Arg)	rs121918593	0.00005
NM_000558.5(HBA1):c.245C>G (p.Ser82Cys)	rs34936612	0.00005
NM_000789.4(ACE):c.3683C>T (p.Pro1228Leu)	rs121912703	0.00005
NM_000890.5(KCNJ5):c.739G>A (p.Gly247Arg)	rs200170681	0.00005
NM_000925.4(PDHB):c.426A>G (p.Ile142Met)	rs151247980	0.00005
NM_001098.3(ACO2):c.2050C>T (p.Arg684Trp)	rs768950391	0.00005
NM_001114748.2(TMEM240):c.346C>T (p.Arg116Cys)	rs606231453	0.00005
NM_001144869.3(LIPT2):c.89T>C (p.Leu30Pro)	rs539962457	0.00005
NM_001163435.3(TBCK):c.2060-2A>G	rs62321379	0.00005
NM_001170754.2(CIROZ):c.337C>T (p.Arg113Ter)	rs558323413	0.00005
NM_001182.5(ALDH7A1):c.834G>A (p.Val278=)	rs201948406	0.00005
NM_001242882.2(NAXD):c.922C>T (p.Arg308Cys)	rs767778853	0.00005
NM_001273.5(CHD4):c.4822G>A (p.Val1608Ile)	rs201992075	0.00005
NM_001289808.2(CRYAB):c.470G>A (p.Arg157His)	rs141638421	0.00005
NM_001360.3(DHCR7):c.1A>G (p.Met1Val)	rs104886033	0.00005
NM_001360.3(DHCR7):c.976G>T (p.Val326Leu)	rs80338859	0.00005
NM_001368067.1(LDB3):c.802C>T (p.Arg268Cys)	rs121908335	0.00005
NM_001369.3(DNAH5):c.6249G>A (p.Met2083Ile)	rs753614861	0.00005
NM_001611.5(ACP5):c.131C>T (p.Thr44Met)	rs369804864	0.00005
NM_001698.3(AUH):c.991A>T (p.Lys331Ter)	rs387906757	0.00005
NM_001737.5(C9):c.460C>T (p.Arg154Ter)	rs144138616	0.00005
NM_001844.5(COL2A1):c.4148C>T (p.Thr1383Met)	rs138498898	0.00005
NM_001844.5(COL2A1):c.4316C>T (p.Thr1439Met)	rs121912886	0.00005
NM_001876.4(CPT1A):c.1436C>T (p.Pro479Leu)	rs80356779	0.00005
NM_001930.4(DHPS):c.518A>G (p.Asn173Ser)	rs758100382	0.00005
NM_002226.5(JAG2):c.2515G>A (p.Gly839Arg)	rs781734780	0.00005
NM_002234.4(KCNA5):c.1580C>T (p.Thr527Met)	rs121908591	0.00005
NM_003060.4(SLC22A5):c.844C>T (p.Arg282Ter)	rs121908886	0.00005
NM_003244.4(TGIF1):c.83C>G (p.Ser28Cys)	rs121909066	0.00005
NM_003476.5(CSRP3):c.136A>C (p.Ser46Arg)	rs137852765	0.00005
NM_003504.5(CDC45):c.1660C>T (p.Arg554Trp)	rs778665661	0.00005
NM_003805.5(CRADD):c.382G>C (p.Gly128Arg)	rs387906861	0.00005
NM_004279.3(PMPCB):c.601G>C (p.Ala201Pro)	rs146343535	0.00005
NM_004807.3(HS6ST1):c.916C>T (p.Arg306Trp)	rs780352591	0.00005
NM_004827.3(ABCG2):c.791_792del (p.Leu264fs)	rs387906870	0.00005
NM_005213.4(CSTA):c.172C>T (p.Arg58Ter)	rs149474339	0.00005
NM_005216.5(DDOST):c.1136G>A (p.Arg379Gln)	rs74526704	0.00005
NM_005993.5(TBCD):c.3365C>T (p.Pro1122Leu)	rs755177846	0.00005
NM_006261.5(PROP1):c.358C>T (p.Arg120Cys)	rs121917839	0.00005
NM_006767.4(LZTR1):c.1397G>A (p.Arg466Gln)	rs587777180	0.00005
NM_006918.5(SC5D):c.442A>G (p.Lys148Glu)	rs775350797	0.00005
NM_006950.3(SYN1):c.1648G>A (p.Ala550Thr)	rs397514680	0.00005
NM_007194.4(CHEK2):c.433C>T (p.Arg145Trp)	rs137853007	0.00005
NM_012188.5(FOXI1):c.773G>A (p.Gly258Glu)	rs121909340	0.00005
NM_012243.3(SLC35A3):c.886A>G (p.Ser296Gly)	rs141952252	0.00005
NM_013444.4(UBQLN2):c.1525C>T (p.Pro509Ser)	rs387906712	0.00005
NM_013444.4(UBQLN2):c.1573C>T (p.Pro525Ser)	rs369947678	0.00005
NM_014270.5(SLC7A9):c.604+2T>C	rs763110287	0.00005
NM_014285.7(EXOSC2):c.89G>T (p.Gly30Val)	rs537467155	0.00005
NM_014467.3(SRPX2):c.215A>C (p.Tyr72Ser)	rs121918364	0.00005
NM_016008.4(DYNC2LI1):c.349C>G (p.Leu117Val)	rs201948500	0.00005
NM_016219.5(MAN1B1):c.1000C>T (p.Arg334Cys)	rs387906886	0.00005
NM_017436.7(A4GALT):c.752C>T (p.Pro251Leu)	rs28940571	0.00005
NM_017646.6(TRIT1):c.1256A>C (p.His419Pro)	rs566435653	0.00005
NM_017799.4(TMEM260):c.1393C>T (p.Gln465Ter)	rs201956469	0.00005
NM_017807.4(OSGEP):c.838C>T (p.Arg280Cys)	rs374322839	0.00005
NM_018100.4(EFHC1):c.628G>A (p.Asp210Asn)	rs137852777	0.00005
NM_018116.4(MSTO1):c.1033C>T (p.Arg345Cys)	rs749922789	0.00005
NM_018116.4(MSTO1):c.22G>A (p.Val8Met)	rs762798018	0.00005
NM_018972.4(GDAP1):c.715C>T (p.Leu239Phe)	rs104894080	0.00005
NM_020374.4(FERRY3):c.983T>C (p.Leu328Pro)	rs1468772495	0.00005
NM_020442.6(VARS2):c.1456G>T (p.Glu486Ter)	rs143821815	0.00005
NM_020921.4(NIN):c.5126A>G (p.Asn1709Ser)	rs387907308	0.00005
NM_020975.6(RET):c.1942G>A (p.Val648Ile)	rs77711105	0.00005
NM_021957.4(GYS2):c.116A>G (p.Asn39Ser)	rs121918423	0.00005
NM_021971.4(GMPPB):c.988G>A (p.Val330Ile)	rs199922550	0.00005
NM_022114.4(PRDM16):c.2447A>G (p.Asn816Ser)	rs397514743	0.00005
NM_022132.5(MCCC2):c.295G>C (p.Glu99Gln)	rs119103219	0.00005
NM_024417.5(FDXR):c.916C>T (p.Arg306Cys)	rs752143061	0.00005
NM_024911.7(WLS):c.1433A>G (p.Tyr478Cys)	rs985347096	0.00005
NM_025103.4(IFT74):c.1685-1G>T	rs200699377	0.00005
NM_025137.4(SPG11):c.733_734del (p.Met245fs)	rs312262720	0.00005
NM_030943.4(AMN):c.122C>T (p.Thr41Ile)	rs119478058	0.00005
NM_138704.4(NSMCE3):c.790C>T (p.Leu264Phe)	rs199905054	0.00005
NM_144631.6(ZNF513):c.1015T>C (p.Cys339Arg)	rs267607182	0.00005
NM_144773.4(PROKR2):c.533G>C (p.Trp178Ser)	rs201835496	0.00005
NM_145868.2(ANXA11):c.112G>A (p.Gly38Arg)	rs142083484	0.00005
NM_152416.4(NDUFAF6):c.298-768T>C	rs575462405	0.00005
NM_194248.3(OTOF):c.5816G>A (p.Arg1939Gln)	rs80356605	0.00005
NM_198559.2(CATIP):c.103T>A (p.Phe35Ile)	rs141560868	0.00005
NM_206926.2(SELENON):c.1A>G (p.Met1Val)	rs121908184	0.00005
NR_023343.1:n.30G>A	rs374299350	0.00005
NR_023343.3(RNU4ATAC):n.48G>A	rs863225422	0.00005
NM_000017.4(ACADS):c.1138C>T (p.Arg380Trp)	rs28940875	0.00004
NM_000030.3(AGXT):c.613T>C (p.Ser205Pro)	rs121908520	0.00004
NM_000035.4(ALDOB):c.442T>C (p.Trp148Arg)	rs118204430	0.00004
NM_000047.3(ARSL):c.36G>C (p.Arg12Ser)	rs122460151	0.00004
NM_000071.3(CBS):c.502G>A (p.Val168Met)	rs121964970	0.00004
NM_000135.4(FANCA):c.2639G>A (p.Arg880Gln)	rs372254398	0.00004
NM_000151.4(G6PC1):c.328G>A (p.Glu110Lys)	rs104894567	0.00004
NM_000169.3(GLA):c.644A>G (p.Asn215Ser)	rs28935197	0.00004
NM_000175.5(GPI):c.671C>T (p.Thr224Met)	rs61754634	0.00004
NM_000181.4(GUSB):c.1617C>T (p.Ser539=)	rs377519272	0.00004
NM_000181.4(GUSB):c.1856C>T (p.Ala619Val)	rs121918172	0.00004
NM_000184.2(HBG2):c.122G>A (p.Arg41Lys)	rs281864892	0.00004
NM_000187.4(HGD):c.899T>G (p.Val300Gly)	rs120074170	0.00004
NM_000190.4(HMBS):c.601C>T (p.Arg201Trp)	rs118204109	0.00004
NM_000197.2(HSD17B3):c.389A>G (p.Asn130Ser)	rs119481079	0.00004
NM_000199.5(SGSH):c.1295_1303del (p.Tyr432_Arg435delinsCys)	rs1567914835	0.00004
NM_000211.5(ITGB2):c.897+1G>A	rs201752283	0.00004
NM_000256.3(MYBPC3):c.3373G>A (p.Val1125Met)	rs121909378	0.00004
NM_000277.3(PAH):c.842+1G>A	rs5030852	0.00004
NM_000285.4(PEPD):c.1342G>A (p.Gly448Arg)	rs121917724	0.00004
NM_000303.3(PMM2):c.640-15479C>T	rs1258107584	0.00004
NM_000310.4(PPT1):c.29T>A (p.Leu10Ter)	rs137852699	0.00004
NM_000312.4(PROC):c.814C>T (p.Arg272Cys)	rs121918154	0.00004
NM_000335.5(SCN5A):c.892G>A (p.Gly298Ser)	rs137854608	0.00004
NM_000342.4(SLC4A1):c.2102G>A (p.Gly701Asp)	rs121912748	0.00004
NM_000359.3(TGM1):c.376C>T (p.Arg126Cys)	rs397514524	0.00004
NM_000359.3(TGM1):c.425G>A (p.Arg142His)	rs121918718	0.00004
NM_000371.4(TTR):c.262A>T (p.Ile88Leu)	rs121918085	0.00004
NM_000376.3(VDR):c.218G>A (p.Arg73Gln)	rs121909791	0.00004
NM_000402.4(G6PD):c.583A>G (p.Asn195Asp)	rs137852331	0.00004
NM_000410.4(HFE):c.175G>A (p.Val59Met)	rs111033557	0.00004
NM_000441.2(SLC26A4):c.2168A>G (p.His723Arg)	rs121908362	0.00004
NM_000441.2(SLC26A4):c.279del (p.Ser93fs)	rs786204421	0.00004
NM_000447.3(PSEN2):c.1316A>C (p.Asp439Ala)	rs63750110	0.00004
NM_000478.6(ALPL):c.979T>C (p.Phe327Leu)	rs121918010	0.00004
NM_000486.6(AQP2):c.785C>T (p.Pro262Leu)	rs104894339	0.00004
NM_000487.6(ARSA):c.257G>A (p.Arg86Gln)	rs74315458	0.00004
NM_000497.4(CYP11B1):c.956C>T (p.Thr319Met)	rs104894068	0.00004
NM_000500.9(CYP21A2):c.1273G>A (p.Gly425Ser)	rs72552758	0.00004
NM_000517.6(HBA2):c.69C>T (p.Gly23=)	rs63751457	0.00004
NM_000527.5(LDLR):c.1646G>A (p.Gly549Asp)	rs28941776	0.00004
NM_000527.5(LDLR):c.2054C>T (p.Pro685Leu)	rs28942084	0.00004
NM_000539.3(RHO):c.745G>T (p.Glu249Ter)	rs104893783	0.00004
NM_000540.3(RYR1):c.6617C>T (p.Thr2206Met)	rs118192177	0.00004
NM_000550.3(TYRP1):c.1067G>A (p.Arg356Gln)	rs281865424	0.00004
NM_000551.4(VHL):c.562C>G (p.Leu188Val)	rs5030824	0.00004
NM_000552.5(VWF):c.5347T>G (p.Ser1783Ala)	rs267607353	0.00004
NM_000558.3(HBA1):c.193G>C (p.Asp65His)	rs33984024	0.00004
NM_000785.4(CYP27B1):c.1166G>A (p.Arg389His)	rs118204009	0.00004
NM_000785.4(CYP27B1):c.1226C>T (p.Thr409Ile)	rs118204008	0.00004
NM_001025248.2(DUT):c.425A>G (p.Tyr142Cys)	rs373184762	0.00004
NM_001080453.3(INTS1):c.229C>T (p.Arg77Cys)	rs200649090	0.00004
NM_001082971.2(DDC):c.272C>T (p.Ala91Val)	rs137853211	0.00004
NM_001099922.3(ALG13):c.1388A>G (p.Glu463Gly)	rs184599884	0.00004
NM_001127701.1(SERPINA1):c.17C>T (p.Ser6Leu)	rs140814100	0.00004
NM_001135055.2:c.769_770insCTACCTCCTTATCTTCTG	rs781905246	0.00004
NM_001139498.2(FGF13):c.-32C>G	rs757803941	0.00004
NM_001142864.4(PIEZO1):c.6380C>T (p.Thr2127Met)	rs587776991	0.00004
NM_001164277.2(SLC37A4):c.1243C>T (p.Arg415Ter)	rs121908979	0.00004
NM_001177316.2(SLC34A3):c.846G>A (p.Pro282=)	rs121918236	0.00004
NM_001199107.2(TBC1D24):c.1499C>T (p.Ala500Val)	rs564477999	0.00004
NM_001276270.2(MBD4):c.1544-1G>T	rs778697654	0.00004
NM_001276270.2(MBD4):c.1670T>A (p.Leu557Ter)	rs200758755	0.00004
NM_001283009.2(RTEL1):c.2957G>A (p.Arg986Gln)	rs146221660	0.00004
NM_001308093.3(GATA4):c.487C>T (p.Pro163Ser)	rs387906769	0.00004
NM_001312673.2(PCYT1A):c.968dup (p.Ser323fs)	rs587777196	0.00004
NM_001365536.1(SCN9A):c.1921A>T (p.Asn641Tyr)	rs121908918	0.00004
NM_001374504.1(TMPRSS6):c.1297G>A (p.Gly433Arg)	rs137853119	0.00004
NM_001379270.1(CNGA1):c.253del (p.Leu85fs)	rs749012133	0.00004
NM_001395413.1(POR):c.1361G>A (p.Arg454His)	rs28931608	0.00004
NM_001395656.1(ROBO2):c.2846T>C (p.Ile949Thr)	rs267607014	0.00004
NM_001414.4(EIF2B1):c.824A>G (p.Tyr275Cys)	rs758746181	0.00004
NM_001436401.1(NOBOX):c.713G>A (p.Arg238His)	rs201947677	0.00004
NM_001622.4(AHSG):c.950G>A (p.Arg317His)	rs201849460	0.00004
NM_001723.7(DST):c.3370C>T (p.Gln1124Ter)	rs201045495	0.00004
NM_001918.5(DBT):c.1018-550A>G	rs796052135	0.00004
NM_002296.4(LBR):c.1640A>G (p.Asn547Ser)	rs374343844	0.00004
NM_002471.4(MYH6):c.2384G>A (p.Arg795Gln)	rs267606907	0.00004
NM_002929.3(GRK1):c.1139T>A (p.Val380Asp)	rs777094000	0.00004
NM_003104.6(SORD):c.776C>T (p.Ala259Val)	rs746985755	0.00004
NM_003359.4(UGDH):c.131C>T (p.Ala44Val)	rs749975104	0.00004
NM_003480.4(MFAP5):c.472C>T (p.Arg158Ter)	rs727502791	0.00004
NM_003982.4(SLC7A7):c.625+1G>A	rs386833822	0.00004
NM_004092.4(ECHS1):c.538A>G (p.Thr180Ala)	rs557128093	0.00004
NM_004208.4(AIFM1):c.1030C>T (p.Leu344Phe)	rs184474885	0.00004
NM_004211.5(SLC6A5):c.1472A>G (p.Tyr491Cys)	rs121908494	0.00004
NM_004304.5(ALK):c.3452C>T (p.Thr1151Met)	rs113994091	0.00004
NM_004318.4(ASPH):c.2203C>T (p.Arg735Trp)	rs374385878	0.00004
NM_004360.5(CDH1):c.2494G>A (p.Val832Met)	rs35572355	0.00004
NM_004425.4(ECM1):c.1019del (p.Gln340fs)	rs778473713	0.00004
NM_004425.4(ECM1):c.499T>A (p.Phe167Ile)	rs121909116	0.00004
NM_004722.4(AP4M1):c.1012C>T (p.Arg338Ter)	rs146262009	0.00004
NM_005476.7(GNE):c.647T>C (p.Val216Ala)	rs779694939	0.00004
NM_005726.6(TSFM):c.944G>A (p.Cys315Tyr)	rs587777688	0.00004
NM_005787.6(ALG3):c.512G>A (p.Arg171Gln)	rs119103236	0.00004
NM_005957.5(MTHFR):c.1129C>T (p.Arg377Cys)	rs121434296	0.00004
NM_006363.6(SEC23B):c.970C>T (p.Arg324Ter)	rs121918225	0.00004
NM_006576.4(AVIL):c.1964dup (p.Phe656fs)	rs753128516	0.00004
NM_006918.5(SC5D):c.86G>A (p.Arg29Gln)	rs104894295	0.00004
NM_006947.4(SRP72):c.620G>A (p.Arg207His)	rs387907189	0.00004
NM_007035.4(KERA):c.835C>T (p.Arg279Ter)	rs386833986	0.00004
NM_007055.4(POLR3A):c.760C>T (p.Arg254Ter)	rs141659018	0.00004
NM_014252.4(SLC25A15):c.815C>T (p.Thr272Ile)	rs121908535	0.00004
NM_014270.5(SLC7A9):c.997C>T (p.Arg333Trp)	rs121908484	0.00004
NM_014444.5(TUBGCP4):c.579dup (p.Gly194fs)	rs794726855	0.00004
NM_015141.4(GPD1L):c.817C>T (p.Arg273Cys)	rs72552294	0.00004
NM_015909.4(NBAS):c.2423+404G>C	rs1019313682	0.00004
NM_015937.6(PIGT):c.1342C>T (p.Arg448Trp)	rs527236031	0.00004
NM_016013.4(NDUFAF1):c.631C>T (p.Arg211Cys)	rs387906958	0.00004
NM_016103.4(SAR1B):c.409G>A (p.Asp137Asn)	rs28942109	0.00004
NM_016138.5(COQ7):c.161G>A (p.Arg54Gln)	rs770654508	0.00004
NM_016138.5(COQ7):c.319C>T (p.Arg107Trp)	rs769570290	0.00004
NM_016239.4(MYO15A):c.10573del (p.Ser3525fs)	rs1270302810	0.00004
NM_016327.3(UPB1):c.899C>T (p.Ser300Leu)	rs762081192	0.00004
NM_017646.6(TRIT1):c.848T>G (p.Ile283Ser)	rs199622789	0.00004
NM_017739.4(POMGNT1):c.1324C>T (p.Arg442Cys)	rs28940869	0.00004
NM_017951.5(SMPD4):c.1220C>T (p.Pro407Leu)	rs747433356	0.00004
NM_018055.5(NODAL):c.778G>A (p.Gly260Arg)	rs121909283	0.00004
NM_018082.6(POLR3B):c.2303G>A (p.Arg768His)	rs267608687	0.00004
NM_018116.4(MSTO1):c.971C>T (p.Thr324Ile)	rs622288	0.00004
NM_018122.5(DARS2):c.536G>A (p.Arg179His)	rs121918210	0.00004
NM_018946.4(NANS):c.562T>C (p.Tyr188His)	rs878852981	0.00004
NM_019109.5(ALG1):c.1025A>C (p.Gln342Pro)	rs267606651	0.00004
NM_020533.3(MCOLN1):c.1084G>T (p.Asp362Tyr)	rs121908372	0.00004
NM_020975.6(RET):c.3116C>T (p.Pro1039Leu)	rs79853121	0.00004
NM_020989.4(CRYGC):c.502C>T (p.Arg168Trp)	rs28931604	0.00004
NM_021942.6(TRAPPC11):c.1287+5G>A	rs397509418	0.00004
NM_022081.6(HPS4):c.649C>T (p.Arg217Ter)	rs119471023	0.00004
NM_022132.5(MCCC2):c.1309A>G (p.Ile437Val)	rs119103224	0.00004
NM_024301.5(FKRP):c.899T>C (p.Val300Ala)	rs104894691	0.00004
NM_024580.6(EFL1):c.3284G>A (p.Arg1095Gln)	rs376095522	0.00004
NM_024678.6(NARS2):c.167A>G (p.Gln56Arg)	rs201751992	0.00004
NM_024876.4(COQ8B):c.532C>T (p.Arg178Trp)	rs398122978	0.00004
NM_025103.4(IFT74):c.535C>G (p.Gln179Glu)	rs150219690	0.00004
NM_030777.4(SLC2A10):c.1276G>T (p.Gly426Trp)	rs121908172	0.00004
NM_032043.3(BRIP1):c.1045G>C (p.Ala349Pro)	rs149364097	0.00004
NM_032119.4(ADGRV1):c.6901C>T (p.Gln2301Ter)	rs121909762	0.00004
NM_032520.5(GNPTG):c.610-2A>G	rs193302855	0.00004
NM_032634.3(PIGO):c.3069+5G>A	rs368953604	0.00004
NM_052845.4(MMAB):c.571C>T (p.Arg191Trp)	rs376128990	0.00004
NM_052989.3(IFT122):c.3031G>C (p.Ala1011Pro)	rs199622112	0.00004
NM_052989.3(IFT122):c.349+5G>A	rs376595844	0.00004
NM_054012.4(ASS1):c.1087C>T (p.Arg363Trp)	rs121908640	0.00004
NM_057176.3(BSND):c.3G>A (p.Met1Ile)	rs74315286	0.00004
NM_080680.3(COL11A2):c.1861C>A (p.Pro621Thr)	rs121912952	0.00004
NM_138413.4(HOGA1):c.769T>G (p.Cys257Gly)	rs267606764	0.00004
NM_138959.3(VANGL1):c.821G>A (p.Arg274Gln)	rs121918219	0.00004
NM_144585.4(SLC22A12):c.650C>T (p.Thr217Met)	rs121907893	0.00004
NM_144596.4(TTC8):c.489G>A (p.Thr163=)	rs119103286	0.00004
NM_144988.4(ALG14):c.310C>T (p.Arg104Ter)	rs367570129	0.00004
NM_144988.4(ALG14):c.326G>A (p.Arg109Gln)	rs199689080	0.00004
NM_145207.3(AFG2A):c.2531C>T (p.Ala844Val)	rs796051892	0.00004
NM_152443.3(RDH12):c.295C>A (p.Leu99Ile)	rs28940315	0.00004
NM_152564.5(VPS13B):c.4396G>T (p.Glu1466Ter)	rs120074151	0.00004
NM_153026.3(PRICKLE1):c.431G>A (p.Arg144His)	rs281865563	0.00004
NM_153460.4(IL17RC):c.913C>T (p.Arg305Ter)	rs773852926	0.00004
NM_153682.3(PIGP):c.2T>C (p.Met1Thr)	rs768633670	0.00004
NM_170707.4(LMNA):c.1580G>A (p.Arg527His)	rs57520892	0.00004
NM_174878.3(CLRN1):c.118T>G (p.Cys40Gly)	rs121908143	0.00004
NM_177550.5(SLC13A5):c.680C>T (p.Thr227Met)	rs587777577	0.00004
NM_177924.5(ASAH1):c.125C>T (p.Thr42Met)	rs145873635	0.00004
NM_177924.5(ASAH1):c.456A>C (p.Lys152Asn)	rs200455852	0.00004
NM_181741.4(ORC4):c.521A>G (p.Tyr174Cys)	rs387906847	0.00004
NM_198407.2(GHSR):c.611C>A (p.Ala204Glu)	rs121917883	0.00004
NM_198859.4(PRICKLE2):c.1813G>T (p.Val605Phe)	rs387906989	0.00004
NM_201253.3(CRB1):c.2290C>T (p.Arg764Cys)	rs62635654	0.00004
NM_203395.3(IYD):c.301C>T (p.Arg101Trp)	rs121918138	0.00004
NM_203486.3(DLL3):c.945_946del (p.Ala317fs)	rs786200900	0.00004
NM_207122.2(EXT2):c.11C>T (p.Ser4Leu)	rs527624522	0.00004
NR_003051.3(RMRP):n.64C>T	rs786204684	0.00004
NR_003051.4(RMRP):n.196dup	rs796065036	0.00004
NC_000011.10:g.5227172G>A	rs63751208	0.00003
NM_000017.4(ACADS):c.274G>T (p.Gly92Cys)	rs121908004	0.00003
NM_000018.4(ACADVL):c.1182+1G>A	rs113690956	0.00003
NM_000018.4(ACADVL):c.1837C>T (p.Arg613Trp)	rs118204014	0.00003
NM_000022.4(ADA):c.890C>A (p.Pro297Gln)	rs121908718	0.00003
NM_000023.4(SGCA):c.293G>A (p.Arg98His)	rs137852621	0.00003
NM_000026.4(ADSL):c.736A>G (p.Lys246Glu)	rs119450944	0.00003
NM_000039.3(APOA1):c.83C>G (p.Pro28Arg)	rs121912721	0.00003
NM_000041.4(APOE):c.683G>A (p.Trp228Ter)	rs121918396	0.00003
NM_000045.4(ARG1):c.871C>T (p.Arg291Ter)	rs104893940	0.00003
NM_000046.5(ARSB):c.1178A>C (p.His393Pro)	rs118203944	0.00003
NM_000047.3(ARSL):c.1743G>A (p.Trp581Ter)	rs80338714	0.00003
NM_000048.4(ASL):c.1135C>T (p.Arg379Cys)	rs28940287	0.00003
NM_000051.4(ATM):c.2250G>A (p.Lys750=)	rs1137887	0.00003
NM_000053.4(ATP7B):c.3809A>G (p.Asn1270Ser)	rs121907990	0.00003
NM_000055.4(BCHE):c.1574A>T (p.Glu525Val)	rs121918556	0.00003
NM_000055.4(BCHE):c.508G>A (p.Val170Met)	rs527843566	0.00003
NM_000069.3(CACNA1S):c.665T>A (p.Met222Lys)	rs1287586310	0.00003
NM_000108.5(DLD):c.1081A>G (p.Met361Val)	rs121964993	0.00003
NM_000110.4(DPYD):c.2657G>A (p.Arg886His)	rs1801267	0.00003
NM_000113.3(TOR1A):c.862C>T (p.Arg288Ter)	rs760768475	0.00003
NM_000143.4(FH):c.521C>G (p.Pro174Arg)	rs199822819	0.00003
NM_000153.4(GALC):c.857G>A (p.Gly286Asp)	rs199847983	0.00003
NM_000154.2(GALK1):c.94G>A (p.Val32Met)	rs104894576	0.00003
NM_000155.4(GALT):c.512T>C (p.Phe171Ser)	rs111033715	0.00003
NM_000161.3(GCH1):c.586G>T (p.Ala196Ser)	rs104894436	0.00003
NM_000173.7(GP1BA):c.1620G>A (p.Trp540Ter)	rs267606849	0.00003
NM_000187.4(HGD):c.990G>T (p.Arg330Ser)	rs120074171	0.00003
NM_000198.4(HSD3B2):c.1119A>C (p.Ter373Cys)	rs80358218	0.00003
NM_000199.5(SGSH):c.1339G>A (p.Glu447Lys)	rs104894639	0.00003
NM_000207.3(INS):c.16C>T (p.Arg6Cys)	rs121908278	0.00003
NM_000211.5(ITGB2):c.850G>A (p.Gly284Ser)	rs137852616	0.00003
NM_000212.3(ITGB3):c.1297C>G (p.Pro433Ala)	rs121918448	0.00003
NM_000243.3(MEFV):c.501G>C (p.Glu167Asp)	rs104895079	0.00003
NM_000246.4(CIITA):c.2888+1G>A	rs372826934	0.00003
NM_000255.4(MMUT):c.1867G>A (p.Gly623Arg)	rs121918254	0.00003
NM_000263.4(NAGLU):c.1562C>T (p.Pro521Leu)	rs104894595	0.00003
NM_000263.4(NAGLU):c.2021G>A (p.Arg674His)	rs104894590	0.00003
NM_000274.4(OAT):c.596C>A (p.Pro199Gln)	rs267606925	0.00003
NM_000277.3(PAH):c.1068C>G (p.Tyr356Ter)	rs62516095	0.00003
NM_000277.3(PAH):c.965C>G (p.Ala322Gly)	rs62514958	0.00003
NM_000287.4(PEX6):c.821C>T (p.Pro274Leu)	rs61753219	0.00003
NM_000288.4(PEX7):c.653C>T (p.Ala218Val)	rs121909151	0.00003
NM_000314.8(PTEN):c.-765G>A	rs587776674	0.00003
NM_000334.4(SCN4A):c.3466G>A (p.Ala1156Thr)	rs80338958	0.00003
NM_000335.5(SCN5A):c.5767G>A (p.Ala1923Thr)	rs137854603	0.00003
NM_000342.4(SLC4A1):c.1937G>A (p.Arg646Gln)	rs121912757	0.00003
NM_000350.3(ABCA4):c.5819T>C (p.Leu1940Pro)	rs61753033	0.00003
NM_000359.3(TGM1):c.1469A>G (p.Asp490Gly)	rs121918724	0.00003
NM_000359.3(TGM1):c.968G>A (p.Arg323Gln)	rs121918717	0.00003
NM_000375.3(UROS):c.661-31T>G	rs750180293	0.00003
NM_000375.3(UROS):c.683C>T (p.Thr228Met)	rs121908014	0.00003
NM_000379.4(XDH):c.445C>T (p.Arg149Cys)	rs72549369	0.00003
NM_000382.3(ALDH3A2):c.943C>T (p.Pro315Ser)	rs72547571	0.00003
NM_000402.4(G6PD):c.1093G>A (p.Ala365Thr)	rs5030869	0.00003
NM_000402.4(G6PD):c.1114C>T (p.Leu372Phe)	rs137852342	0.00003
NM_000419.5(ITGA2B):c.2602-3C>G	rs763330792	0.00003
NM_000441.2(SLC26A4):c.2162C>T (p.Thr721Met)	rs121908363	0.00003
NM_000443.4(ABCB4):c.3481C>T (p.Pro1161Ser)	rs121918442	0.00003
NM_000453.3(SLC5A5):c.799C>G (p.Gln267Glu)	rs121909176	0.00003
NM_000487.6(ARSA):c.677C>T (p.Ala226Val)	rs74315468	0.00003
NM_000487.6(ARSA):c.736C>T (p.Arg246Cys)	rs74315470	0.00003
NM_000492.4(CFTR):c.1658G>A (p.Arg553Gln)	rs121909044	0.00003
NM_000512.5(GALNS):c.871G>A (p.Ala291Thr)	rs118204448	0.00003
NM_000517.4(HBA2):c.142G>C (p.Asp48His)	rs281864834	0.00003
NM_000517.6(HBA2):c.178G>C (p.Gly60Arg)	rs41328049	0.00003
NM_000518.4(HBB):c.404T>C (p.Val135Ala)	rs33966761	0.00003
NM_000518.5(HBB):c.-140C>T	rs34999973	0.00003
NM_000518.5(HBB):c.316-106C>G	rs34690599	0.00003
NM_000518.5(HBB):c.50G>A (p.Gly17Asp)	rs33962676	0.00003
NM_000520.6(HEXA):c.1260G>C (p.Trp420Cys)	rs121907958	0.00003
NM_000521.4(HEXB):c.1510C>T (p.Pro504Ser)	rs121907985	0.00003
NM_000527.5(LDLR):c.530C>T (p.Ser177Leu)	rs121908026	0.00003
NM_000536.4(RAG2):c.283G>A (p.Gly95Arg)	rs36001797	0.00003
NM_000543.5(SMPD1):c.911T>C (p.Leu304Pro)	rs120074124	0.00003
NM_000549.5(TSHB):c.205C>T (p.Gln69Ter)	rs121918670	0.00003
NM_000558.5(HBA1):c.273G>C (p.Lys91Asn)	rs33914470	0.00003
NM_000642.3(AGL):c.4529dup (p.Tyr1510Ter)	rs387906244	0.00003
NM_000782.5(CYP24A1):c.964G>A (p.Glu322Lys)	rs387907324	0.00003
NM_000843.4(GRM6):c.1214T>C (p.Ile405Thr)	rs121434304	0.00003
NM_001002294.3(FMO3):c.182A>G (p.Asn61Ser)	rs72549322	0.00003
NM_001002755.4(NFU1):c.629G>T (p.Cys210Phe)	rs201634470	0.00003
NM_001004334.4(GPR179):c.659A>G (p.Tyr220Cys)	rs281875236	0.00003
NM_001010867.4(IBA57):c.316A>G (p.Thr106Ala)	rs1053773776	0.00003
NM_001014342.3(FLG2):c.632C>G (p.Ser211Ter)	rs1050823116	0.00003
NM_001036.6(RYR3):c.6208A>G (p.Met2070Val)	rs769938343	0.00003
NM_001037.5(SCN1B):c.363C>G (p.Cys121Trp)	rs104894718	0.00003
NM_001069.3(TUBB2A):c.743C>T (p.Ala248Val)	rs2808001	0.00003
NM_001082971.2(DDC):c.823G>A (p.Ala275Thr)	rs137853212	0.00003
NM_001122659.3(EDNRB):c.828G>T (p.Trp276Cys)	rs104894387	0.00003
NM_001127217.3(SMAD9):c.127A>G (p.Lys43Glu)	rs397514715	0.00003
NM_001127701.1(SERPINA1):c.194T>C (p.Leu65Pro)	rs28931569	0.00003
NM_001130987.2(DYSF):c.6241C>T (p.Arg2081Cys)	rs121908955	0.00003
NM_001134831.2(AHI1):c.2168G>A (p.Arg723Gln)	rs121434351	0.00003
NM_001139.3(ALOX12B):c.1642C>T (p.Arg548Trp)	rs397514532	0.00003
NM_001145128.3(AK9):c.3391G>A (p.Glu1131Lys)	rs574889890	0.00003
NM_001145165.2(DOHH):c.668C>T (p.Pro223Leu)	rs1031622115	0.00003
NM_001146079.2(CLDN14):c.301G>A (p.Gly101Arg)	rs74315438	0.00003
NM_001160372.4(TRAPPC9):c.1414C>T (p.Arg472Ter)	rs267607137	0.00003
NM_001166345.3(MDFIC):c.732T>G (p.Phe244Leu)	rs77149653	0.00003
NM_001171.6(ABCC6):c.3904G>A (p.Gly1302Arg)	rs63749856	0.00003
NM_001193329.3(AOPEP):c.763C>T (p.Arg255Ter)	rs779393035	0.00003
NM_001194998.2(CEP152):c.2959C>T (p.Arg987Ter)	rs267606718	0.00003
NM_001199107.2(TBC1D24):c.724C>T (p.Arg242Cys)	rs398122965	0.00003
NM_001211.6(BUB1B):c.2386-11A>G	rs751421137	0.00003
NM_001267727.2(ARSG):c.130G>A (p.Asp44Asn)	rs199566950	0.00003
NM_001278716.2(FBXL4):c.1444C>T (p.Arg482Trp)	rs398123061	0.00003
NM_001283009.2(RTEL1):c.2869C>T (p.Arg957Trp)	rs398123018	0.00003
NM_001298.3(CNGA3):c.1585G>A (p.Val529Met)	rs104893619	0.00003
NM_001308093.3(GATA4):c.1276G>A (p.Asp426Asn)	rs56208331	0.00003
NM_001352514.2(HLCS):c.1960+5G>A	rs753887925	0.00003
NM_001352514.2(HLCS):c.2182G>A (p.Gly728Ser)	rs119103230	0.00003
NM_001358921.2(COQ2):c.440G>A (p.Arg147His)	rs121918231	0.00003
NM_001360.3(DHCR7):c.111G>A (p.Trp37Ter)	rs750345068	0.00003
NM_001360.3(DHCR7):c.1342G>A (p.Glu448Lys)	rs80338864	0.00003
NM_001360.3(DHCR7):c.3G>A (p.Met1Ile)	rs121909767	0.00003
NM_001365088.1(SLC12A6):c.3400C>T (p.Arg1134Ter)	rs606231229	0.00003
NM_001366110.1(PAX4):c.514C>T (p.Arg172Trp)	rs121917718	0.00003
NM_001371986.1(UNC80):c.5296C>T (p.Pro1766Ser)	rs869025316	0.00003
NM_001374623.1(PNPLA1):c.418T>C (p.Ser140Pro)	rs781053760	0.00003
NM_001375405.1(CEP120):c.595G>C (p.Ala199Pro)	rs367600930	0.00003
NM_001377.3(DYNC2H1):c.3719T>C (p.Ile1240Thr)	rs137853028	0.00003
NM_001377265.1(MAPT):c.14G>A (p.Arg5His)	rs63750959	0.00003
NM_001378457.1(DMXL2):c.7250G>A (p.Arg2417His)	rs754786373	0.00003
NM_001378615.1(CC2D2A):c.4340A>C (p.Glu1447Ala)	rs387907058	0.00003
NM_001379659.1(ZNF142):c.5098C>T (p.Arg1700Trp)	rs367658234	0.00003
NM_001386140.1(MTTP):c.1619G>A (p.Arg540His)	rs199422220	0.00003
NM_001387263.1(PATL2):c.478C>T (p.Arg160Ter)	rs548527219	0.00003
NM_001387263.1(PATL2):c.839G>A (p.Arg280Gln)	rs569729547	0.00003
NM_001447.3(FAT2):c.10946G>A (p.Arg3649Gln)	rs201335279	0.00003
NM_001458.5(FLNC):c.4871C>T (p.Ser1624Leu)	rs879255639	0.00003
NM_001611.5(ACP5):c.325G>A (p.Gly109Arg)	rs781050795	0.00003
NM_001625.4(AK2):c.498+1G>A	rs777503956	0.00003
NM_001673.5(ASNS):c.146G>A (p.Arg49Gln)	rs769236847	0.00003
NM_001749.4(CAPNS1):c.721+1G>A	rs760597333	0.00003
NM_001852.4(COL9A2):c.186G>A (p.Pro62=)	rs1085307973	0.00003
NM_002016.2(FLG):c.7661C>G (p.Ser2554Ter)	rs121909626	0.00003
NM_002035.4(KDSR):c.879G>A (p.Gln293=)	rs752611378	0.00003
NM_002354.3(EPCAM):c.556-14A>G	rs376155665	0.00003
NM_002435.3(MPI):c.305C>T (p.Ser102Leu)	rs104894494	0.00003
NM_002435.3(MPI):c.884G>A (p.Arg295His)	rs28928906	0.00003
NM_002857.4(PEX19):c.763dup (p.Met255fs)	rs267608186	0.00003
NM_002878.4(RAD51D):c.556C>T (p.Arg186Ter)	rs387906843	0.00003
NM_003000.3(SDHB):c.418G>T (p.Val140Phe)	rs267607032	0.00003
NM_003052.5(SLC34A1):c.1006+1G>A	rs200095793	0.00003
NM_003060.4(SLC22A5):c.1202dup (p.Tyr401Ter)	rs121908887	0.00003
NM_003060.4(SLC22A5):c.506G>A (p.Arg169Gln)	rs121908889	0.00003
NM_003322.6(TULP1):c.1495+1G>A	rs281865168	0.00003
NM_003560.4(PLA2G6):c.2370_2371del (p.Tyr790_Glu791delinsTer)	rs587784353	0.00003
NM_003737.4(DCHS1):c.6988C>T (p.Arg2330Cys)	rs768737101	0.00003
NM_003865.3(HESX1):c.445G>A (p.Glu149Lys)	rs104893742	0.00003
NM_003999.3(OSMR):c.2081C>T (p.Pro694Leu)	rs387906822	0.00003
NM_004004.6(GJB2):c.476A>T (p.Asp159Val)	rs28931592	0.00003
NM_004004.6(GJB2):c.551G>C (p.Arg184Pro)	rs80338950	0.00003
NM_004371.4(COPA):c.3038G>C (p.Cys1013Ser)	rs775980693	0.00003
NM_004453.4(ETFDH):c.1448C>T (p.Pro483Leu)	rs377656387	0.00003
NM_004539.4(NARS1):c.50C>T (p.Thr17Met)	rs148893823	0.00003
NM_004551.3(NDUFS3):c.595C>T (p.Arg199Trp)	rs104894270	0.00003
NM_005085.4(NUP214):c.112C>T (p.Arg38Cys)	rs143595616	0.00003
NM_005327.7(HADH):c.706C>T (p.Arg236Ter)	rs375717077	0.00003
NM_005337.5(NCKAP1L):c.1111A>G (p.Met371Val)	rs750982844	0.00003
NM_005476.7(GNE):c.673G>A (p.Asp225Asn)	rs121908630	0.00003
NM_005518.4(HMGCS2):c.520T>C (p.Phe174Leu)	rs137852636	0.00003
NM_005670.4(EPM2A):c.721C>T (p.Arg241Ter)	rs104893950	0.00003
NM_005726.6(TSFM):c.934C>T (p.Arg312Trp)	rs121909485	0.00003
NM_005732.4(RAD50):c.3277C>T (p.Arg1093Ter)	rs121912628	0.00003
NM_005957.5(MTHFR):c.1743G>A (p.Met581Ile)	rs45590836	0.00003
NM_005984.5(SLC25A1):c.844C>T (p.Arg282Cys)	rs431905509	0.00003
NM_006059.4(LAMC3):c.1048G>A (p.Gly350Arg)	rs571785750	0.00003
NM_006345.4(SLC30A9):c.86_87dup (p.Cys30fs)	rs752245649	0.00003
NM_006397.3(RNASEH2A):c.556C>T (p.Arg186Trp)	rs77103971	0.00003
NM_006441.4(MTHFS):c.484C>T (p.Gln162Ter)	rs771379232	0.00003
NM_006567.5(FARS2):c.461C>T (p.Ala154Val)	rs749588235	0.00003
NM_006759.4(UGP2):c.34A>G (p.Met12Val)	rs768305634	0.00003
NM_006790.3(MYOT):c.17G>A (p.Arg6His)	rs387906882	0.00003
NM_006901.4(MYO9A):c.608A>G (p.Tyr203Cys)	rs374155761	0.00003
NM_007055.4(POLR3A):c.2617-1G>A	rs181087667	0.00003
NM_007294.4(BRCA1):c.181T>G (p.Cys61Gly)	rs28897672	0.00003
NM_012082.4(ZFPM2):c.779G>A (p.Arg260Gln)	rs200834568	0.00003
NM_012123.4(MTO1):c.1282G>A (p.Ala428Thr)	rs143747297	0.00003
NM_012144.4(DNAI1):c.1543G>A (p.Gly515Ser)	rs79833450	0.00003
NM_012188.5(FOXI1):c.800G>A (p.Arg267Gln)	rs121909341	0.00003
NM_012200.4(B3GAT3):c.673C>T (p.Arg225Ter)	rs377340567	0.00003
NM_012208.4(HARS2):c.598C>G (p.Leu200Val)	rs397515410	0.00003
NM_013328.4(PYCR2):c.355C>T (p.Arg119Cys)	rs372781135	0.00003
NM_013382.7(POMT2):c.551C>T (p.Thr184Met)	rs267606971	0.00003
NM_014053.4(FLVCR1):c.574T>C (p.Cys192Arg)	rs267606821	0.00003
NM_014249.4(NR2E3):c.226C>T (p.Arg76Trp)	rs104894492	0.00003
NM_014297.5(ETHE1):c.586G>A (p.Asp196Asn)	rs763799125	0.00003
NM_014629.4(ARHGEF10):c.1013G>C (p.Arg338Thr)	rs587777712	0.00003
NM_014874.4(MFN2):c.1085C>T (p.Thr362Met)	rs387906991	0.00003
NM_015047.3(EMC1):c.430G>A (p.Ala144Thr)	rs869320623	0.00003
NM_015166.4(MLC1):c.449_455del (p.Leu150fs)	rs1057517090	0.00003
NM_015346.4(ZFYVE26):c.4312C>T (p.Arg1438Ter)	rs118204049	0.00003
NM_015665.6(AAAS):c.43C>A (p.Gln15Lys)	rs121918549	0.00003
NM_015693.4(INTU):c.1499A>C (p.Glu500Ala)	rs1360128571	0.00003
NM_015713.5(RRM2B):c.329G>A (p.Arg110His)	rs267607025	0.00003
NM_015909.4(NBAS):c.2617C>T (p.Arg873Trp)	rs897487519	0.00003
NM_015959.4(TMX2):c.614G>A (p.Arg205Gln)	rs370455806	0.00003
NM_016034.5(MRPS2):c.413G>A (p.Arg138His)	rs758539748	0.00003
NM_017563.5(IL17RD):c.2204C>T (p.Ala735Val)	rs587776979	0.00003
NM_017739.4(POMGNT1):c.932G>A (p.Arg311Gln)	rs193919336	0.00003
NM_017777.4(MKS1):c.1476T>G (p.Cys492Trp)	rs137853105	0.00003
NM_017807.4(OSGEP):c.740G>A (p.Arg247Gln)	rs773173317	0.00003
NM_018129.4(PNPO):c.686G>A (p.Arg229Gln)	rs773450573	0.00003
NM_018344.6(SLC29A3):c.1157G>A (p.Arg386Gln)	rs397515429	0.00003
NM_018359.5(UFSP2):c.344T>A (p.Val115Glu)	rs142500730	0.00003
NM_018718.3(CEP41):c.536G>A (p.Arg179His)	rs140259402	0.00003
NM_019098.5(CNGB3):c.607C>T (p.Arg203Ter)	rs267606739	0.00003
NM_019109.5(ALG1):c.826C>T (p.Arg276Trp)	rs151173406	0.00003
NM_020041.3(SLC2A9):c.1138C>T (p.Arg380Trp)	rs121908321	0.00003
NM_020041.3(SLC2A9):c.224T>G (p.Leu75Arg)	rs863225072	0.00003
NM_020041.3(SLC2A9):c.592C>T (p.Arg198Cys)	rs121908322	0.00003
NM_020433.5(JPH2):c.1282C>T (p.Gln428Ter)	rs199896820	0.00003
NM_020458.4(TTC7A):c.211G>A (p.Glu71Lys)	rs147914967	0.00003
NM_020533.3(MCOLN1):c.304C>T (p.Arg102Ter)	rs121908373	0.00003
NM_020779.4(WDR35):c.3170A>G (p.Tyr1057Cys)	rs541910371	0.00003
NM_020779.4(WDR35):c.932G>T (p.Trp311Leu)	rs200649783	0.00003
NM_020800.3(IFT80):c.2101G>C (p.Ala701Pro)	rs137853116	0.00003
NM_020944.3(GBA2):c.1888C>T (p.Arg630Trp)	rs398123012	0.00003
NM_021222.3(PRUNE1):c.383G>A (p.Arg128Gln)	rs767769359	0.00003
NM_021254.4(CFAP298):c.735C>G (p.Tyr245Ter)	rs202094637	0.00003
NM_021870.2(FGG):c.1001A>T (p.Asn334Ile)	rs121913090	0.00003
NM_022095.4(ZNF335):c.1505A>G (p.Tyr502Cys)	rs753888773	0.00003
NM_022124.6(CDH23):c.9565C>T (p.Arg3189Trp)	rs121908353	0.00003
NM_022168.4(IFIH1):c.2465G>A (p.Arg822Gln)	rs376048533	0.00003
NM_022356.4(P3H1):c.2055+18G>A	rs137853890	0.00003
NM_022370.4(ROBO3):c.955G>A (p.Glu319Lys)	rs121918274	0.00003
NM_024334.3(TMEM43):c.1114C>T (p.Arg372Ter)	rs773224617	0.00003
NM_024589.3(ROGDI):c.531+5G>C	rs749657986	0.00003
NM_024675.4(PALB2):c.3296C>G (p.Thr1099Arg)	rs142132127	0.00003
NM_025077.4(TOE1):c.443T>A (p.Phe148Tyr)	rs148067486	0.00003
NM_025150.5(TARS2):c.1285C>T (p.Arg429Ter)	rs1382181446	0.00003
NM_025152.3(NUBPL):c.313G>T (p.Asp105Tyr)	rs397515440	0.00003
NM_025215.6(PUS1):c.430C>T (p.Arg144Trp)	rs104894371	0.00003
NM_030773.4(TUBB1):c.952C>T (p.Arg318Trp)	rs121918555	0.00003
NM_031448.6(C19orf12):c.-2C>T	rs397514477	0.00003
NM_032380.5(GFM2):c.569G>A (p.Arg190Gln)	rs761283105	0.00003
NM_032409.3(PINK1):c.938C>T (p.Thr313Met)	rs74315359	0.00003
NM_032492.4(JAGN1):c.3G>A (p.Met1Ile)	rs587777727	0.00003
NM_032898.5(CEP19):c.232C>T (p.Arg78Ter)	rs587777230	0.00003
NM_033305.3(VPS13A):c.6404dup (p.Ser2136fs)	rs951347128	0.00003
NM_033409.4(SLC52A3):c.1238T>C (p.Val413Ala)	rs267606687	0.00003
NM_033641.4(COL4A6):c.1768G>A (p.Gly590Ser)	rs779748859	0.00003
NM_052961.4(SLC26A8):c.2860C>T (p.Arg954Cys)	rs398123027	0.00003
NM_052988.5(CDK10):c.609-1G>A	rs767176610	0.00003
NM_054012.4(ASS1):c.970G>A (p.Gly324Ser)	rs121908639	0.00003
NM_138425.4(C12orf57):c.1A>G (p.Met1Val)	rs587776954	0.00003
NM_138773.4(SLC25A46):c.746G>A (p.Gly249Asp)	rs200725073	0.00003
NM_139027.6(ADAMTS13):c.1193G>A (p.Arg398His)	rs121908471	0.00003
NM_147127.5(EVC2):c.1195C>T (p.Arg399Ter)	rs137852924	0.00003
NM_148897.3(SDR9C7):c.599T>C (p.Ile200Thr)	rs770729222	0.00003
NM_148960.3(CLDN19):c.59G>A (p.Gly20Asp)	rs118203979	0.00003
NM_152328.5(ADSS1):c.781G>A (p.Asp261Asn)	rs140614802	0.00003
NM_152416.4(NDUFAF6):c.371T>C (p.Ile124Thr)	rs201732170	0.00003
NM_152416.4(NDUFAF6):c.532G>C (p.Ala178Pro)	rs201088736	0.00003
NM_153026.3(PRICKLE1):c.311G>A (p.Arg104Gln)	rs113994140	0.00003
NM_177550.5(SLC13A5):c.997C>T (p.Arg333Ter)	rs773770609	0.00003
NM_177986.5(DSG4):c.865C>T (p.Arg289Ter)	rs267606777	0.00003
NM_183075.3(CYP2U1):c.1462C>T (p.Arg488Trp)	rs141431913	0.00003
NM_194292.3(SASS6):c.127-13A>G	rs1406541512	0.00003
NM_198239.2(CCN6):c.156C>A (p.Cys52Ter)	rs121908901	0.00003
NM_198253.3(TERT):c.508G>A (p.Val170Met)	rs387907248	0.00003
NM_198428.3(BBS9):c.1792C>T (p.Arg598Ter)	rs137852856	0.00003
NM_198514.4(NHLRC2):c.2074G>T (p.Asp692Tyr)	rs755264403	0.00003
NM_201253.3(CRB1):c.2234C>T (p.Thr745Met)	rs28939720	0.00003
NM_201525.4(ADGRG1):c.1675C>T (p.Arg559Trp)	rs121908464	0.00003
NM_201631.4(TGM5):c.1335G>C (p.Lys445Asn)	rs606231276	0.00003
NM_206933.4(USH2A):c.949C>A (p.Arg317=)	rs111033272	0.00003
NM_207352.4(CYP4V2):c.1523G>A (p.Arg508His)	rs119103284	0.00003
NM_212552.3(BOLA3):c.200T>A (p.Ile67Asn)	rs550855238	0.00003
NM_213653.4(HJV):c.665T>A (p.Ile222Asn)	rs74315325	0.00003
NM_000017.4(ACADS):c.164C>T (p.Pro55Leu)	rs147442301	0.00002
NM_000018.4(ACADVL):c.1322G>A (p.Gly441Asp)	rs2309689	0.00002
NM_000019.4(ACAT1):c.547G>A (p.Gly183Arg)	rs120074141	0.00002
NM_000022.4(ADA):c.454C>A (p.Leu152Met)	rs121908728	0.00002
NM_000022.4(ADA):c.911T>G (p.Leu304Arg)	rs199422327	0.00002
NM_000030.3(AGXT):c.245G>A (p.Gly82Glu)	rs121908522	0.00002
NM_000035.4(ALDOB):c.1027T>C (p.Tyr343His)	rs369586696	0.00002
NM_000041.4(APOE):c.178A>G (p.Thr60Ala)	rs28931576	0.00002
NM_000043.6(FAS):c.361C>T (p.Arg121Trp)	rs121913078	0.00002
NM_000070.3(CAPN3):c.1715G>A (p.Arg572Gln)	rs121434544	0.00002
NM_000071.3(CBS):c.430G>A (p.Glu144Lys)	rs121964966	0.00002
NM_000078.3(CETP):c.1321+1G>A	rs5742907	0.00002
NM_000112.4(SLC26A2):c.2033G>T (p.Gly678Val)	rs104893916	0.00002
NM_000128.4(F11):c.976C>T (p.Arg326Cys)	rs28934608	0.00002
NM_000132.4(F8):c.2149C>T (p.Arg717Trp)	rs137852435	0.00002
NM_000132.4(F8):c.323A>C (p.Lys108Thr)	rs137852384	0.00002
NM_000132.4(F8):c.5123G>A (p.Arg1708His)	rs111033614	0.00002
NM_000136.3(FANCC):c.1661T>C (p.Leu554Pro)	rs104886458	0.00002
NM_000145.4(FSHR):c.479T>C (p.Ile160Thr)	rs121909659	0.00002
NM_000146.4(FTL):c.89C>T (p.Thr30Ile)	rs397514540	0.00002
NM_000151.4(G6PC1):c.648G>T (p.Leu216=)	rs80356484	0.00002
NM_000178.4(GSS):c.799C>T (p.Arg267Trp)	rs121909308	0.00002
NM_000179.3(MSH6):c.10C>T (p.Gln4Ter)	rs786201042	0.00002
NM_000181.4(GUSB):c.1069C>T (p.Arg357Ter)	rs121918185	0.00002
NM_000186.4(CFH):c.1507C>G (p.Pro503Ala)	rs570523689	0.00002
NM_000191.3(HMGCL):c.208G>C (p.Val70Leu)	rs121964996	0.00002
NM_000199.5(SGSH):c.383C>T (p.Pro128Leu)	rs104894642	0.00002
NM_000204.5(CFI):c.1234G>A (p.Val412Met)	rs371432629	0.00002
NM_000207.3(INS):c.266G>A (p.Arg89His)	rs28933985	0.00002
NM_000218.3(KCNQ1):c.1747C>T (p.Arg583Cys)	rs17221854	0.00002
NM_000218.3(KCNQ1):c.569G>A (p.Arg190Gln)	rs120074178	0.00002
NM_000218.3(KCNQ1):c.898G>A (p.Ala300Thr)	rs120074187	0.00002
NM_000237.3(LPL):c.755T>C (p.Ile252Thr)	rs118204080	0.00002
NM_000255.4(MMUT):c.52C>T (p.Gln18Ter)	rs121918248	0.00002
NM_000257.4(MYH7):c.1046T>C (p.Met349Thr)	rs121913640	0.00002
NM_000257.4(MYH7):c.2167C>T (p.Arg723Cys)	rs121913630	0.00002
NM_000258.3(MYL3):c.461G>A (p.Arg154His)	rs104893749	0.00002
NM_000260.4(MYO7A):c.634C>T (p.Arg212Cys)	rs121965080	0.00002
NM_000273.3(GPR143):c.360G>A (p.Ala120=)	rs281865178	0.00002
NM_000277.3(PAH):c.1066-3C>T	rs62507344	0.00002
NM_000281.4(PCBD1):c.244T>C (p.Cys82Arg)	rs104894177	0.00002
NM_000285.4(PEPD):c.833G>A (p.Gly278Asp)	rs121917723	0.00002
NM_000303.3(PMM2):c.484C>T (p.Arg162Trp)	rs104894526	0.00002
NM_000308.4(CTSA):c.1318T>G (p.Phe440Val)	rs137854540	0.00002
NM_000335.5(SCN5A):c.5347G>A (p.Glu1783Lys)	rs137854601	0.00002
NM_000341.4(SLC3A1):c.1085G>A (p.Arg362His)	rs121912697	0.00002
NM_000342.3(SLC4A1):c.-62G>A	rs387906565	0.00002
NM_000348.4(SRD5A2):c.344G>A (p.Gly115Asp)	rs121434246	0.00002
NM_000350.3(ABCA4):c.3364G>A (p.Glu1122Lys)	rs61751399	0.00002
NM_000354.6(SERPINA7):c.1114del (p.Leu372fs)	rs587776719	0.00002
NM_000359.3(TGM1):c.1223_1227del (p.Asp408fs)	rs398122905	0.00002
NM_000359.3(TGM1):c.832G>A (p.Gly278Arg)	rs121918725	0.00002
NM_000359.3(TGM1):c.857G>A (p.Arg286Gln)	rs121918727	0.00002
NM_000360.4(TH):c.1388C>T (p.Thr463Met)	rs45471299	0.00002
NM_000372.5(TYR):c.265T>C (p.Cys89Arg)	rs28940877	0.00002
NM_000398.7(CYB5R3):c.875G>A (p.Gly292Asp)	rs121965016	0.00002
NM_000434.4(NEU1):c.893C>T (p.Ala298Val)	rs104893981	0.00002
NM_000436.4(OXCT1):c.661G>A (p.Val221Met)	rs121909303	0.00002
NM_000441.2(SLC26A4):c.1588T>C (p.Tyr530His)	rs111033254	0.00002
NM_000447.3(PSEN2):c.1289C>T (p.Thr430Met)	rs63750666	0.00002
NM_000453.3(SLC5A5):c.1183G>A (p.Gly395Arg)	rs121909180	0.00002
NM_000454.5(SOD1):c.289G>A (p.Asp97Asn)	rs121912459	0.00002
NM_000463.3(UGT1A1):c.1021C>T (p.Arg341Ter)	rs72551349	0.00002
NM_000486.6(AQP2):c.374C>T (p.Thr125Met)	rs104894333	0.00002
NM_000492.4(CFTR):c.328G>C (p.Asp110His)	rs113993958	0.00002
NM_000497.4(CYP11B1):c.1343G>A (p.Arg448His)	rs28934586	0.00002
NM_000512.5(GALNS):c.178G>A (p.Asp60Asn)	rs118204447	0.00002
NM_000512.5(GALNS):c.776G>A (p.Arg259Gln)	rs118204442	0.00002
NM_000512.5(GALNS):c.935C>G (p.Thr312Ser)	rs118204446	0.00002
NM_000517.6(HBA2):c.314G>A (p.Cys105Tyr)	rs41417548	0.00002
NM_000518.4(HBB):c.263C>T (p.Thr88Ile)	rs33993568	0.00002
NM_000518.4(HBB):c.332T>C (p.Leu111Pro)	rs35256489	0.00002
NM_000518.5(HBB):c.170G>A (p.Gly57Asp)	rs34439278	0.00002
NM_000518.5(HBB):c.262A>C (p.Thr88Pro)	rs35553496	0.00002
NM_000518.5(HBB):c.82G>T (p.Ala28Ser)	rs35424040	0.00002
NM_000519.4(HBD):c.226C>G (p.Leu76Val)	rs34430836	0.00002
NM_000521.4(HEXB):c.1614-16_1615dup	rs1554037309	0.00002
NM_000527.5(LDLR):c.551G>A (p.Cys184Tyr)	rs121908039	0.00002
NM_000528.4(MAN2B1):c.2278C>T (p.Arg760Ter)	rs121434331	0.00002
NM_000545.8(HNF1A):c.1592G>C (p.Ser531Thr)	rs137853246	0.00002
NM_000546.6(TP53):c.743G>A (p.Arg248Gln)	rs11540652	0.00002
NM_000551.4(VHL):c.376G>A (p.Asp126Asn)	rs104893831	0.00002
NM_000666.3(ACY1):c.699A>C (p.Glu233Asp)	rs121912699	0.00002
NM_000751.3(CHRND):c.1390C>T (p.Arg464Ter)	rs121909507	0.00002
NM_000875.5(IGF1R):c.2216G>A (p.Arg739Gln)	rs121912429	0.00002
NM_000925.4(PDHB):c.106C>T (p.Arg36Cys)	rs763842440	0.00002
NM_000925.4(PDHB):c.956A>T (p.Asp319Val)	rs199983136	0.00002
NM_001003722.2(GLE1):c.1750C>T (p.Arg584Trp)	rs765269946	0.00002
NM_001010874.5(TECRL):c.587G>A (p.Arg196Gln)	rs773204795	0.00002
NM_001010892.3(RSPH4A):c.1468C>T (p.Arg490Ter)	rs118204043	0.00002
NM_001012720.2(RGR):c.196A>C (p.Ser66Arg)	rs104894187	0.00002
NM_001018115.3(FANCD2):c.904C>T (p.Arg302Trp)	rs121917787	0.00002
NM_001034116.2(EIF2B4):c.1070G>A (p.Arg357Gln)	rs113994033	0.00002
NM_001041.4(SI):c.3293A>C (p.Gln1098Pro)	rs121912611	0.00002
NM_001042492.3(NF1):c.4330A>G (p.Lys1444Glu)	rs137854550	0.00002
NM_001060.6(TBXA2R):c.179G>T (p.Arg60Leu)	rs34377097	0.00002
NM_001077525.3(MTMR14):c.1385A>G (p.Tyr462Cys)	rs121434510	0.00002
NM_001079802.2(FKTN):c.1112A>G (p.Tyr371Cys)	rs119464998	0.00002
NM_001080467.3(MYO5B):c.1347del (p.Phe450fs)	rs1298330895	0.00002
NM_001082486.2(ACD):c.1213C>A (p.Pro405Thr)	rs201441120	0.00002
NM_001085411.3(NADK2):c.1A>G (p.Met1Val)	rs1277388010	0.00002
NM_001097577.3(ANG):c.407C>T (p.Pro136Leu)	rs121909543	0.00002
NM_001105206.3(LAMA4):c.3238C>T (p.Arg1080Ter)	rs372615994	0.00002
NM_001105247.2(ARMC5):c.1777C>T (p.Arg593Trp)	rs587777662	0.00002
NM_001110792.2(MECP2):c.490C>G (p.Pro164Ala)	rs179363900	0.00002
NM_001127178.3(PIGG):c.2041C>T (p.Arg681Trp)	rs899791968	0.00002
NM_001127178.3(PIGG):c.2624_2625del (p.Gly874_Leu875insTer)	rs771819481	0.00002
NM_001127671.2(LIFR):c.2074C>T (p.Arg692Ter)	rs199775294	0.00002
NM_001127701.1(SERPINA1):c.682G>A (p.Glu228Lys)	rs199422208	0.00002
NM_001128225.3(SLC39A13):c.221G>A (p.Gly74Asp)	rs121434363	0.00002
NM_001129.5(AEBP1):c.1743C>A (p.Cys581Ter)	rs777647845	0.00002
NM_001135146.2(SLC39A8):c.112G>C (p.Gly38Arg)	rs778210210	0.00002
NM_001161.5(NUDT2):c.174G>T (p.Glu58Asp)	rs772730170	0.00002
NM_001194998.2(CEP152):c.794A>C (p.Gln265Pro)	rs267606717	0.00002
NM_001195129.2(PRSS56):c.1555G>A (p.Gly519Arg)	rs730882162	0.00002
NM_001195518.2(MICU1):c.735+1G>A	rs369915689	0.00002
NM_001211.6(BUB1B):c.2530C>T (p.Leu844Phe)	rs28989181	0.00002
NM_001252024.2(TRPM1):c.1936C>T (p.Arg646Cys)	rs387906862	0.00002
NM_001283009.2(RTEL1):c.3730T>C (p.Cys1244Arg)	rs587777037	0.00002
NM_001298.3(CNGA3):c.847C>T (p.Arg283Trp)	rs104893613	0.00002
NM_001303.4(COX10):c.674C>T (p.Pro225Leu)	rs104894556	0.00002
NM_001349.4(DARS1):c.1480C>G (p.Arg494Gly)	rs147077598	0.00002
NM_001352514.2(HLCS):c.2152G>A (p.Asp718Asn)	rs119103228	0.00002
NM_001365999.1(SZT2):c.6724C>T (p.Arg2242Trp)	rs765848129	0.00002
NM_001370658.1(BTD):c.1406A>C (p.Asn469Thr)	rs104893692	0.00002
NM_001374353.1(GLI2):c.1834G>A (p.Glu612Lys)	rs387907277	0.00002
NM_001374385.1(ATP8B1):c.2674G>A (p.Gly892Arg)	rs121909098	0.00002
NM_001374385.1(ATP8B1):c.923G>T (p.Gly308Val)	rs111033609	0.00002
NM_001377.3(DYNC2H1):c.8512C>T (p.Arg2838Ter)	rs137853032	0.00002
NM_001377.3(DYNC2H1):c.988C>T (p.Arg330Cys)	rs397514637	0.00002
NM_001378030.1(CCDC78):c.61-1G>A	rs1006891646	0.00002
NM_001379659.1(ZNF142):c.3775C>T (p.Arg1259Ter)	rs546151500	0.00002
NM_001384732.1(CPLANE1):c.4006C>T (p.Arg1336Trp)	rs367543061	0.00002
NM_001386795.1(DTNA):c.362C>T (p.Pro121Leu)	rs104894654	0.00002
NM_001388308.1(KIF12):c.1070G>A (p.Arg357Gln)	rs746948055	0.00002
NM_001497.4(B4GALT1):c.61C>T (p.Arg21Trp)	rs1065764	0.00002
NM_001673.5(ASNS):c.1019G>A (p.Arg340His)	rs1360484422	0.00002
NM_001739.2(CA5A):c.721G>A (p.Glu241Lys)	rs563971993	0.00002
NM_001927.4(DES):c.1048C>T (p.Arg350Trp)	rs62636492	0.00002
NM_002109.6(HARS1):c.1361A>C (p.Tyr454Ser)	rs387906639	0.00002
NM_002354.3(EPCAM):c.426-1G>A	rs373597944	0.00002
NM_002437.5(MPV17):c.376-9T>G	rs368900406	0.00002
NM_002471.4(MYH6):c.2161C>T (p.Arg721Trp)	rs387906656	0.00002
NM_002496.4(NDUFS8):c.229C>T (p.Arg77Trp)	rs146766138	0.00002
NM_002734.5(PRKAR1A):c.220C>T (p.Arg74Cys)	rs137853303	0.00002
NM_002860.4(ALDH18A1):c.251G>A (p.Arg84Gln)	rs121434582	0.00002
NM_002861.5(PCYT2):c.676C>T (p.His226Tyr)	rs778113360	0.00002
NM_002878.4(RAD51D):c.363del (p.Ala122fs)	rs730881935	0.00002
NM_002887.4(RARS1):c.1535G>A (p.Arg512Gln)	rs369398935	0.00002
NM_003060.4(SLC22A5):c.1195C>T (p.Arg399Trp)	rs267607054	0.00002
NM_003184.4(TAF2):c.2531C>T (p.Pro844Leu)	rs750451843	0.00002
NM_003265.3(TLR3):c.597A>T (p.Leu199Phe)	rs753482575	0.00002
NM_003401.5(XRCC4):c.127T>C (p.Trp43Arg)	rs587779351	0.00002
NM_003504.5(CDC45):c.677A>G (p.Asp226Gly)	rs754080445	0.00002
NM_003560.4(PLA2G6):c.1894C>T (p.Arg632Trp)	rs121908683	0.00002
NM_003907.3(EIF2B5):c.944G>A (p.Arg315His)	rs113994064	0.00002
NM_004064.5(CDKN1B):c.206C>T (p.Pro69Leu)	rs777354267	0.00002
NM_004082.5(DCTN1):c.3302G>A (p.Arg1101Lys)	rs121909345	0.00002
NM_004168.4(SDHA):c.1765C>T (p.Arg589Trp)	rs387906780	0.00002
NM_004183.4(BEST1):c.140G>A (p.Arg47His)	rs28940278	0.00002
NM_004204.5(PIGQ):c.619C>T (p.Arg207Ter)	rs730882240	0.00002
NM_004371.4(COPA):c.3172C>T (p.Arg1058Cys)	rs772182530	0.00002
NM_004407.4(DMP1):c.55-1G>C	rs587776697	0.00002
NM_004562.3(PRKN):c.167T>A (p.Val56Glu)	rs137853059	0.00002
NM_004562.3(PRKN):c.633A>T (p.Lys211Asn)	rs137853060	0.00002
NM_004588.5(SCN2B):c.83G>A (p.Arg28Gln)	rs72544145	0.00002
NM_004646.4(NPHS1):c.2464G>A (p.Val822Met)	rs267606918	0.00002
NM_004855.5(PIGB):c.695G>A (p.Arg232His)	rs758196959	0.00002
NM_004870.4(MPDU1):c.218G>A (p.Gly73Glu)	rs104894586	0.00002
NM_004985.5(KRAS):c.38G>A (p.Gly13Asp)	rs112445441	0.00002
NM_005035.4(POLRMT):c.1855G>A (p.Gly619Ser)	rs764240322	0.00002
NM_005055.5(RAPSN):c.-210A>G	rs786200905	0.00002
NM_005138.3(SCO2):c.268C>T (p.Arg90Ter)	rs74315512	0.00002
NM_005159.5(ACTC1):c.941G>A (p.Arg314His)	rs121912673	0.00002
NM_005205.4(COX6A2):c.127T>C (p.Cys43Arg)	rs1275864234	0.00002
NM_005247.4(FGF3):c.310C>T (p.Arg104Ter)	rs121917704	0.00002
NM_005337.5(NCKAP1L):c.1076C>T (p.Pro359Leu)	rs770633648	0.00002
NM_005340.7(HINT1):c.334C>A (p.His112Asn)	rs373849532	0.00002
NM_005472.5(KCNE3):c.10A>G (p.Thr4Ala)	rs200856070	0.00002
NM_005476.7(GNE):c.1891G>A (p.Ala631Thr)	rs121908626	0.00002
NM_005592.4(MUSK):c.1724T>C (p.Ile575Thr)	rs751889864	0.00002
NM_005630.3(SLCO2A1):c.547G>A (p.Gly183Arg)	rs774038272	0.00002
NM_005687.5(FARSB):c.767C>T (p.Thr256Met)	rs753710639	0.00002
NM_005912.3(MC4R):c.750_751del (p.Ile251fs)	rs13447339	0.00002
NM_005957.5(MTHFR):c.470G>A (p.Arg157Gln)	rs121434295	0.00002
NM_005989.4(AKR1D1):c.398C>G (p.Pro133Arg)	rs267606649	0.00002
NM_006005.3(WFS1):c.2576G>A (p.Arg859Gln)	rs121912618	0.00002
NM_006261.5(PROP1):c.296G>A (p.Arg99Gln)	rs137853100	0.00002
NM_006295.3(VARS1):c.2840G>A (p.Arg947His)	rs150882285	0.00002
NM_006295.3(VARS1):c.3173G>A (p.Arg1058Gln)	rs769369302	0.00002
NM_006329.4(FBLN5):c.212G>A (p.Arg71Gln)	rs121434300	0.00002
NM_006346.4(PIBF1):c.1508A>G (p.Tyr503Cys)	rs144610914	0.00002
NM_006397.3(RNASEH2A):c.704G>A (p.Arg235Gln)	rs75718910	0.00002
NM_006432.5(NPC2):c.190+5G>A	rs80358268	0.00002
NM_006441.4(MTHFS):c.434G>A (p.Arg145Gln)	rs753635972	0.00002
NM_006563.5(KLF1):c.977T>G (p.Leu326Arg)	rs397514634	0.00002
NM_006623.4(PHGDH):c.1129G>A (p.Gly377Ser)	rs267606948	0.00002
NM_006831.3(CLP1):c.419G>A (p.Arg140His)	rs587777616	0.00002
NM_006949.4(STXBP2):c.1214G>A (p.Arg405Gln)	rs773360200	0.00002
NM_007375.4(TARDBP):c.*697G>A	rs387906334	0.00002
NM_012120.3(CD2AP):c.1834C>T (p.Arg612Ter)	rs267606710	0.00002
NM_012210.4(TRIM32):c.1181G>A (p.Arg394His)	rs121434447	0.00002
NM_012216.4(MID2):c.1040G>A (p.Arg347Gln)	rs587777605	0.00002
NM_013432.5(TONSL):c.1459G>A (p.Glu487Lys)	rs563710728	0.00002
NM_014252.4(SLC25A15):c.538G>A (p.Glu180Lys)	rs104894424	0.00002
NM_014254.3(RXYLT1):c.1016A>G (p.Tyr339Cys)	rs150736997	0.00002
NM_014362.4(HIBCH):c.852del (p.Leu284fs)	rs1131692017	0.00002
NM_014384.3(ACAD8):c.905G>A (p.Arg302Gln)	rs121908422	0.00002
NM_014585.6(SLC40A1):c.800G>A (p.Gly267Asp)	rs104893664	0.00002
NM_014797.3(ZBTB24):c.1222T>G (p.Cys408Gly)	rs387907105	0.00002
NM_014845.6(FIG4):c.904G>A (p.Glu302Lys)	rs587777714	0.00002
NM_014920.5(CILK1):c.914A>C (p.Lys305Thr)	rs765078446	0.00002
NM_014967.5(FAN1):c.2774_2775del (p.Leu925fs)	rs765970053	0.00002
NM_015047.3(EMC1):c.245C>T (p.Thr82Met)	rs869320625	0.00002
NM_015474.4(SAMHD1):c.602T>A (p.Ile201Asn)	rs138603088	0.00002
NM_015836.4(WARS2):c.833T>G (p.Val278Gly)	rs765904496	0.00002
NM_015937.6(PIGT):c.514C>T (p.Arg172Cys)	rs778531326	0.00002
NM_015978.3(TNNI3K):c.2302G>A (p.Glu768Lys)	rs202238194	0.00002
NM_016059.5(PPIL1):c.379A>G (p.Thr127Ala)	rs553128312	0.00002
NM_016097.5(IER3IP1):c.62T>G (p.Val21Gly)	rs387907011	0.00002
NM_016123.4(IRAK4):c.831+5G>T	rs758539498	0.00002
NM_016222.4(DDX41):c.1187T>C (p.Ile396Thr)	rs747072227	0.00002
NM_016616.5(NME8):c.1277T>A (p.Leu426Ter)	rs121918300	0.00002
NM_017736.5(THUMPD1):c.706C>T (p.Gln236Ter)	rs778649204	0.00002
NM_017777.4(MKS1):c.1024+1G>A	rs199874059	0.00002
NM_017866.6(TMEM70):c.105dup (p.Val36fs)	rs1411381518	0.00002
NM_018006.5(TRMU):c.1102-3C>G	rs753039116	0.00002
NM_018122.5(DARS2):c.788G>A (p.Arg263Gln)	rs121918207	0.00002
NM_018344.6(SLC29A3):c.1330G>T (p.Glu444Ter)	rs267607056	0.00002
NM_018646.6(TRPV6):c.1352G>A (p.Gly451Glu)	rs759393722	0.00002
NM_018699.4(PRDM5):c.320A>G (p.Tyr107Cys)	rs387907111	0.00002
NM_019023.5(PRMT7):c.95G>C (p.Arg32Thr)	rs149170494	0.00002
NM_019026.6(TMCO1):c.463C>T (p.Arg155Ter)	rs765379963	0.00002
NM_019032.6(ADAMTSL4):c.2008C>T (p.Arg670Ter)	rs368482584	0.00002
NM_020041.3(SLC2A9):c.511C>T (p.Arg171Cys)	rs776127501	0.00002
NM_020247.5(COQ8A):c.1651G>A (p.Glu551Lys)	rs119468004	0.00002
NM_020365.5(EIF2B3):c.674G>A (p.Arg225Gln)	rs113994024	0.00002
NM_020381.4(PDSS2):c.1145C>T (p.Ser382Leu)	rs118203956	0.00002
NM_020964.3(EPG5):c.1007A>G (p.Gln336Arg)	rs201757275	0.00002
NM_020975.6(RET):c.1941C>T (p.Ile647=)	rs75225191	0.00002
NM_020975.6(RET):c.938G>A (p.Arg313Gln)	rs77702891	0.00002
NM_021074.5(NDUFV2):c.669_670insG (p.Ser224fs)	rs772188600	0.00002
NM_021830.5(TWNK):c.1519G>A (p.Val507Ile)	rs369588002	0.00002
NM_022081.6(HPS4):c.949_972dup (p.Ala317_Glu324dup)	rs281865164	0.00002
NM_022173.4(TIA1):c.1085C>T (p.Pro362Leu)	rs757332023	0.00002
NM_022662.4(ANAPC1):c.2705-198C>T	rs999743155	0.00002
NM_024120.5(NDUFAF5):c.836T>G (p.Met279Arg)	rs761389904	0.00002
NM_024301.5(FKRP):c.1387A>G (p.Asn463Asp)	rs121908110	0.00002
NM_024537.4(CARS2):c.155T>G (p.Val52Gly)	rs1566366322	0.00002
NM_024577.4(SH3TC2):c.1586G>A (p.Arg529His)	rs80338923	0.00002
NM_024577.4(SH3TC2):c.1969G>A (p.Glu657Lys)	rs80338925	0.00002
NM_024675.4(PALB2):c.3113G>A (p.Trp1038Ter)	rs180177132	0.00002
NM_024675.4(PALB2):c.3256C>T (p.Arg1086Ter)	rs587776527	0.00002
NM_024678.6(NARS2):c.1142A>G (p.Asn381Ser)	rs1565216037	0.00002
NM_024725.4(CCDC82):c.535C>T (p.Arg179Ter)	rs758691852	0.00002
NM_024996.7(GFM1):c.521A>G (p.Asn174Ser)	rs119470018	0.00002
NM_025150.5(TARS2):c.2143G>A (p.Glu715Lys)	rs756855066	0.00002
NM_025150.5(TARS2):c.968T>G (p.Phe323Cys)	rs760208518	0.00002
NM_025243.4(SLC19A3):c.68G>T (p.Gly23Val)	rs121917882	0.00002
NM_025265.4(TSEN2):c.926A>G (p.Tyr309Cys)	rs113994149	0.00002
NM_031407.7(HUWE1):c.12559C>T (p.Arg4187Cys)	rs121918527	0.00002
NM_032383.5(HPS3):c.1189C>T (p.Arg397Trp)	rs121908316	0.00002
NM_032861.4(SERAC1):c.202C>T (p.Arg68Ter)	rs529232938	0.00002
NM_033380.3(COL4A5):c.5048G>A (p.Arg1683Gln)	rs104886308	0.00002
NM_052845.4(MMAB):c.548A>T (p.His183Leu)	rs752866643	0.00002
NM_052859.4(RFT1):c.1325G>A (p.Arg442Gln)	rs749968109	0.00002
NM_052859.4(RFT1):c.454A>G (p.Lys152Glu)	rs763862849	0.00002
NM_052989.3(IFT122):c.965C>T (p.Ser322Phe)	rs267607192	0.00002
NM_053013.4(ENO3):c.559G>A (p.Glu187Lys)	rs772218199	0.00002
NM_054012.4(ASS1):c.1194-1G>C	rs727503814	0.00002
NM_058216.3(RAD51C):c.773G>A (p.Arg258His)	rs267606997	0.00002
NM_058216.3(RAD51C):c.837+1G>A	rs760235677	0.00002
NM_130468.4(CHST14):c.784G>A (p.Glu262Lys)	rs1247205097	0.00002
NM_130849.4(SLC39A4):c.1120G>A (p.Gly374Arg)	rs121434289	0.00002
NM_130849.4(SLC39A4):c.283C>T (p.Arg95Cys)	rs121434292	0.00002
NM_138413.4(HOGA1):c.289C>T (p.Arg97Cys)	rs267606762	0.00002
NM_139315.3(TAF6):c.212T>C (p.Ile71Thr)	rs374993554	0.00002
NM_144658.4(DOCK11):c.5653C>T (p.Arg1885Cys)	rs750008778	0.00002
NM_145649.5(GCNT2):c.1154G>A (p.Arg385His)	rs55940927	0.00002
NM_152416.4(NDUFAF6):c.420+784C>T	rs749738738	0.00002
NM_152419.3(HGSNAT):c.1209G>T (p.Trp403Cys)	rs764206492	0.00002
NM_152419.3(HGSNAT):c.370A>T (p.Arg124Trp)	rs754875934	0.00002
NM_152753.4(SCUBE3):c.2444T>C (p.Ile815Thr)	rs751478115	0.00002
NM_170707.4(LMNA):c.1318G>A (p.Val440Met)	rs121912493	0.00002
NM_170707.4(LMNA):c.892C>T (p.Arg298Cys)	rs59885338	0.00002
NM_176787.5(PIGN):c.963G>A (p.Gln321=)	rs587777187	0.00002
NM_181776.3(SLC36A2):c.164+1G>A	rs371203963	0.00002
NM_206933.4(USH2A):c.13112_13115del (p.Gln4371fs)	rs768161313	0.00002
NM_206933.4(USH2A):c.4732C>T (p.Arg1578Cys)	rs201529124	0.00002
NM_000016.6(ACADM):c.1124T>C (p.Ile375Thr)	rs121434275	0.00001
NM_000016.6(ACADM):c.362C>T (p.Thr121Ile)	rs121434283	0.00001
NM_000016.6(ACADM):c.447G>A (p.Met149Ile)	rs121434277	0.00001
NM_000016.6(ACADM):c.734C>T (p.Ser245Leu)	rs121434281	0.00001
NM_000017.4(ACADS):c.1031A>G (p.Glu344Gly)	rs387906950	0.00001
NM_000017.4(ACADS):c.268G>A (p.Gly90Ser)	rs121908005	0.00001
NM_000017.4(ACADS):c.323G>A (p.Gly108Asp)	rs387906951	0.00001
NM_000018.4(ACADVL):c.1144A>C (p.Lys382Gln)	rs118204015	0.00001
NM_000018.4(ACADVL):c.1349G>A (p.Arg450His)	rs118204016	0.00001
NM_000018.4(ACADVL):c.1372T>C (p.Phe458Leu)	rs118204017	0.00001
NM_000019.4(ACAT1):c.1136G>T (p.Gly379Val)	rs120074143	0.00001
NM_000019.4(ACAT1):c.433C>G (p.Gln145Glu)	rs120074148	0.00001
NM_000019.4(ACAT1):c.826+1G>T	rs727503796	0.00001
NM_000019.4(ACAT1):c.935T>C (p.Ile312Thr)	rs120074146	0.00001
NM_000019.4(ACAT1):c.997G>C (p.Ala333Pro)	rs120074147	0.00001
NM_000022.4(ADA):c.301C>T (p.Arg101Trp)	rs121908717	0.00001
NM_000022.4(ADA):c.466C>T (p.Arg156Cys)	rs121908735	0.00001
NM_000022.4(ADA):c.631C>T (p.Arg211Cys)	rs121908740	0.00001
NM_000027.4(AGA):c.800dup (p.Pro268fs)	rs386833436	0.00001
NM_000027.4(AGA):c.940+1G>T	rs386833437	0.00001
NM_000032.5(ALAS2):c.514G>A (p.Ala172Thr)	rs137852304	0.00001
NM_000035.4(ALDOB):c.10C>T (p.Arg4Ter)	rs118204428	0.00001
NM_000035.4(ALDOB):c.136A>T (p.Arg46Trp)	rs41281039	0.00001
NM_000039.3(APOA1):c.101G>T (p.Arg34Leu)	rs28929476	0.00001
NM_000039.3(APOA1):c.500C>G (p.Pro167Arg)	rs121912719	0.00001
NM_000041.4(APOE):c.127C>T (p.Arg43Cys)	rs121918399	0.00001
NM_000045.4(ARG1):c.413G>T (p.Gly138Val)	rs104893943	0.00001
NM_000045.4(ARG1):c.57+1G>A	rs587776539	0.00001
NM_000046.5(ARSB):c.284G>A (p.Arg95Gln)	rs118203942	0.00001
NM_000048.4(ASL):c.283C>T (p.Arg95Cys)	rs28940585	0.00001
NM_000051.4(ATM):c.3576G>A (p.Lys1192=)	rs587776551	0.00001
NM_000053.4(ATP7B):c.2293G>A (p.Asp765Asn)	rs28942075	0.00001
NM_000053.4(ATP7B):c.2621C>T (p.Ala874Val)	rs121907994	0.00001
NM_000053.4(ATP7B):c.2827G>A (p.Gly943Ser)	rs28942076	0.00001
NM_000063.6(C2):c.1390G>A (p.Gly464Arg)	rs151340617	0.00001
NM_000069.3(CACNA1S):c.2365C>T (p.Arg789Cys)	rs148895719	0.00001
NM_000069.3(CACNA1S):c.2366G>A (p.Arg789His)	rs1157720606	0.00001
NM_000070.3(CAPN3):c.956C>T (p.Pro319Leu)	rs121434547	0.00001
NM_000071.3(CBS):c.1397C>T (p.Ser466Leu)	rs121964971	0.00001
NM_000071.3(CBS):c.415G>A (p.Gly139Arg)	rs121964965	0.00001
NM_000077.5(CDKN2A):c.458-105A>G	rs1060501266	0.00001
NM_000077.5(CDKN2A):c.71G>C (p.Arg24Pro)	rs104894097	0.00001
NM_000079.4(CHRNA1):c.997C>T (p.Arg333Trp)	rs374391312	0.00001
NM_000080.4(CHRNE):c.37G>A (p.Gly13Arg)	rs372635387	0.00001
NM_000082.4(ERCC8):c.479C>T (p.Ala160Val)	rs121434325	0.00001
NM_000083.3(CLCN1):c.871G>A (p.Glu291Lys)	rs121912805	0.00001
NM_000083.3(CLCN1):c.950G>A (p.Arg317Gln)	rs80356702	0.00001
NM_000085.5(CLCNKB):c.1929+1G>A	rs1191726071	0.00001
NM_000092.5(COL4A4):c.4129C>T (p.Arg1377Ter)	rs121912861	0.00001
NM_000094.4(COL7A1):c.5096C>T (p.Pro1699Leu)	rs121912845	0.00001
NM_000094.4(COL7A1):c.8393T>A (p.Met2798Lys)	rs121912828	0.00001
NM_000098.3(CPT2):c.1148T>A (p.Phe383Tyr)	rs74315295	0.00001
NM_000098.3(CPT2):c.520G>A (p.Glu174Lys)	rs28936674	0.00001
NM_000101.4(CYBA):c.70G>A (p.Gly24Arg)	rs28941476	0.00001
NM_000103.4(CYP19A1):c.1094G>A (p.Arg365Gln)	rs80051519	0.00001
NM_000103.4(CYP19A1):c.1123C>T (p.Arg375Cys)	rs121434536	0.00001
NM_000108.5(DLD):c.1463C>T (p.Pro488Leu)	rs121964988	0.00001
NM_000108.5(DLD):c.214A>G (p.Lys72Glu)	rs121964987	0.00001
NM_000108.5(DLD):c.875+1G>A	rs1328820332	0.00001
NM_000111.3(SLC26A3):c.344del (p.Ile115fs)	rs386833478	0.00001
NM_000128.4(F11):c.1253G>T (p.Gly418Val)	rs121965071	0.00001
NM_000128.4(F11):c.166T>C (p.Cys56Arg)	rs121965069	0.00001
NM_000130.5(F5):c.2862del (p.Ser955fs)	rs765982916	0.00001
NM_000130.5(F5):c.6304C>T (p.Arg2102Cys)	rs118203910	0.00001
NM_000131.4(F7):c.-61T>G	rs1367115848	0.00001
NM_000132.4(F8):c.1648C>T (p.Arg550Cys)	rs137852417	0.00001
NM_000132.4(F8):c.493C>T (p.Pro165Ser)	rs137852393	0.00001
NM_000132.4(F8):c.6371A>G (p.Tyr2124Cys)	rs137852459	0.00001
NM_000132.4(F8):c.6533G>A (p.Arg2178His)	rs137852465	0.00001
NM_000132.4(F8):c.6967C>T (p.Arg2323Cys)	rs137852473	0.00001
NM_000132.4(F8):c.6977G>A (p.Arg2326Gln)	rs137852360	0.00001
NM_000133.4(F9):c.31T>A (p.Ser11Thr)	rs387906480	0.00001
NM_000133.4(F9):c.571C>T (p.Arg191Cys)	rs137852237	0.00001
NM_000135.4(FANCA):c.2557C>T (p.Arg853Ter)	rs752160950	0.00001
NM_000135.4(FANCA):c.3913C>T (p.Leu1305Phe)	rs753700179	0.00001
NM_000135.4(FANCA):c.709+5G>A	rs759877008	0.00001
NM_000136.3(FANCC):c.37C>T (p.Gln13Ter)	rs121917784	0.00001
NM_000137.4(FAH):c.836A>G (p.Gln279Arg)	rs121965078	0.00001
NM_000138.5(FBN1):c.2920C>T (p.Arg974Cys)	rs397514558	0.00001
NM_000138.5(FBN1):c.5788+5G>A	rs193922219	0.00001
NM_000138.5(FBN1):c.8326C>T (p.Arg2776Ter)	rs137854466	0.00001
NM_000142.5(FGFR3):c.1612A>G (p.Ile538Val)	rs80053154	0.00001
NM_000143.4(FH):c.194A>G (p.Asp65Gly)	rs145116688	0.00001
NM_000143.4(FH):c.320A>C (p.Asn107Thr)	rs121913121	0.00001
NM_000146.4(FTL):c.1A>G (p.Met1Val)	rs139732572	0.00001
NM_000147.5(FUCA1):c.1229T>G (p.Leu410Arg)	rs80358199	0.00001
NM_000147.5(FUCA1):c.661del (p.Ser221fs)	rs774846977	0.00001
NM_000151.4(G6PC1):c.370G>A (p.Ala124Thr)	rs104894568	0.00001
NM_000151.4(G6PC1):c.883C>T (p.Arg295Cys)	rs104894563	0.00001
NM_000152.5(GAA):c.1561G>A (p.Glu521Lys)	rs121907937	0.00001
NM_000153.4(GALC):c.1630G>A (p.Asp544Asn)	rs387906952	0.00001
NM_000154.2(GALK1):c.82C>A (p.Pro28Thr)	rs104894572	0.00001
NM_000155.4(GALT):c.607G>A (p.Glu203Lys)	rs111033736	0.00001
NM_000156.6(GAMT):c.506G>A (p.Cys169Tyr)	rs121909272	0.00001
NM_000157.4(GBA1):c.1297G>T (p.Val433Leu)	rs80356769	0.00001
NM_000158.4(GBE1):c.771T>A (p.Phe257Leu)	rs137852887	0.00001
NM_000163.5(GHR):c.508G>C (p.Asp170His)	rs121909366	0.00001
NM_000163.5(GHR):c.618+792A>G	rs1011727375	0.00001
NM_000171.4(GLRA1):c.523A>G (p.Met175Val)	rs121918414	0.00001
NM_000175.5(GPI):c.1574T>C (p.Ile525Thr)	rs137853584	0.00001
NM_000175.5(GPI):c.475G>A (p.Gly159Ser)	rs137853582	0.00001
NM_000181.4(GUSB):c.1061C>T (p.Ala354Val)	rs121918175	0.00001
NM_000181.4(GUSB):c.1144C>T (p.Arg382Cys)	rs121918173	0.00001
NM_000181.4(GUSB):c.1831C>T (p.Arg611Trp)	rs121918176	0.00001
NM_000181.4(GUSB):c.1881G>T (p.Trp627Cys)	rs121918184	0.00001
NM_000181.4(GUSB):c.646C>T (p.Arg216Trp)	rs121918174	0.00001
NM_000184.2(HBG2):c.178A>G (p.Lys60Glu)	rs28933078	0.00001
NM_000184.2(HBG2):c.199A>C (p.Lys67Gln)	rs34264694	0.00001
NM_000188.3(HK1):c.2539G>A (p.Glu847Lys)	rs777849213	0.00001
NM_000190.4(HMBS):c.754G>A (p.Ala252Thr)	rs118204113	0.00001
NM_000193.4(SHH):c.1147G>A (p.Ala383Thr)	rs137853341	0.00001
NM_000195.5(HPS1):c.398+5G>A	rs281865077	0.00001
NM_000196.4(HSD11B2):c.1010_1012del (p.Arg337_Tyr338delinsHis)	rs397509434	0.00001
NM_000196.4(HSD11B2):c.622C>T (p.Arg208Cys)	rs121917780	0.00001
NM_000196.4(HSD11B2):c.623G>A (p.Arg208His)	rs28934592	0.00001
NM_000197.2(HSD17B3):c.166G>A (p.Ala56Thr)	rs119481078	0.00001
NM_000197.2(HSD17B3):c.703A>G (p.Met235Val)	rs119481074	0.00001
NM_000198.4(HSD3B2):c.29C>A (p.Ala10Glu)	rs28934880	0.00001
NM_000198.4(HSD3B2):c.424G>A (p.Glu142Lys)	rs80358219	0.00001
NM_000198.4(HSD3B2):c.776C>T (p.Thr259Met)	rs80358221	0.00001
NM_000199.5(SGSH):c.1105G>A (p.Glu369Lys)	rs104894640	0.00001
NM_000199.5(SGSH):c.1298G>A (p.Arg433Gln)	rs104894641	0.00001
NM_000199.5(SGSH):c.449G>A (p.Arg150Gln)	rs104894638	0.00001
NM_000203.5(IDUA):c.898G>A (p.Ala300Thr)	rs121965030	0.00001
NM_000209.4(PDX1):c.176A>T (p.Gln59Leu)	rs137852784	0.00001
NM_000218.3(KCNQ1):c.817C>T (p.Leu273Phe)	rs120074180	0.00001
NM_000228.3(LAMB3):c.628G>A (p.Glu210Lys)	rs121912482	0.00001
NM_000231.3(SGCG):c.848G>A (p.Cys283Tyr)	rs104894422	0.00001
NM_000232.5(SGCB):c.452C>G (p.Thr151Arg)	rs28936383	0.00001
NM_000233.4(LHCGR):c.1660C>T (p.Arg554Ter)	rs121912524	0.00001
NM_000234.3(LIG1):c.2311C>T (p.Arg771Trp)	rs121434561	0.00001
NM_000237.3(LPL):c.337T>C (p.Trp113Arg)	rs118204069	0.00001
NM_000237.3(LPL):c.607G>A (p.Ala203Thr)	rs118204056	0.00001
NM_000238.4(KCNH2):c.2255G>A (p.Arg752Gln)	rs121912512	0.00001
NM_000238.4(KCNH2):c.2350C>T (p.Arg784Trp)	rs12720441	0.00001
NM_000239.3(LYZ):c.199G>C (p.Asp67His)	rs387906535	0.00001
NM_000243.3(MEFV):c.443A>T (p.Glu148Val)	rs104895076	0.00001
NM_000246.4(CIITA):c.3317+1G>A	rs771073292	0.00001
NM_000254.3(MTR):c.340-166A>G	rs1661117141	0.00001
NM_000255.4(MMUT):c.313T>C (p.Trp105Arg)	rs121918249	0.00001
NM_000256.3(MYBPC3):c.3286G>T (p.Glu1096Ter)	rs121909377	0.00001
NM_000257.4(MYH7):c.1357C>T (p.Arg453Cys)	rs121913625	0.00001
NM_000257.4(MYH7):c.1447G>A (p.Glu483Lys)	rs121913651	0.00001
NM_000257.4(MYH7):c.2609G>A (p.Arg870His)	rs36211715	0.00001
NM_000258.3(MYL3):c.427G>A (p.Glu143Lys)	rs104893750	0.00001
NM_000261.2(MYOC):c.144G>T (p.Gln48His)	rs74315339	0.00001
NM_000263.4(NAGLU):c.1444C>T (p.Arg482Trp)	rs104894596	0.00001
NM_000263.4(NAGLU):c.1928G>A (p.Arg643His)	rs104894593	0.00001
NM_000264.5(PTCH1):c.1177G>A (p.Ala393Thr)	rs199476091	0.00001
NM_000270.4(PNP):c.265G>A (p.Glu89Lys)	rs104894453	0.00001
NM_000271.5(NPC1):c.1133T>C (p.Val378Ala)	rs120074134	0.00001
NM_000271.5(NPC1):c.2848G>A (p.Val950Met)	rs120074135	0.00001
NM_000271.5(NPC1):c.2873G>A (p.Arg958Gln)	rs120074132	0.00001
NM_000271.5(NPC1):c.2932C>T (p.Arg978Cys)	rs28942108	0.00001
NM_000271.5(NPC1):c.3107C>T (p.Thr1036Met)	rs28942104	0.00001
NM_000271.5(NPC1):c.3591+1G>A	rs786200877	0.00001
NM_000271.5(NPC1):c.530G>A (p.Cys177Tyr)	rs80358252	0.00001
NM_000274.4(OAT):c.1058G>A (p.Gly353Asp)	rs121965053	0.00001
NM_000274.4(OAT):c.162C>A (p.Asn54Lys)	rs121965048	0.00001
NM_000274.4(OAT):c.722C>T (p.Pro241Leu)	rs121965051	0.00001
NM_000275.3(OCA2):c.1182G>A (p.Met394Ile)	rs121918171	0.00001
NM_000277.3(PAH):c.1A>G (p.Met1Val)	rs62514891	0.00001
NM_000277.3(PAH):c.293T>C (p.Leu98Ser)	rs62517167	0.00001
NM_000277.3(PAH):c.728G>A (p.Arg243Gln)	rs62508588	0.00001
NM_000277.3(PAH):c.776C>T (p.Ala259Val)	rs118203921	0.00001
NM_000277.3(PAH):c.818C>T (p.Ser273Phe)	rs62514953	0.00001
NM_000277.3(PAH):c.932T>C (p.Leu311Pro)	rs62642936	0.00001
NM_000282.4(PCCA):c.1118T>A (p.Met373Lys)	rs121964958	0.00001
NM_000287.4(PEX6):c.1841del (p.Leu614fs)	rs863225083	0.00001
NM_000287.4(PEX6):c.1930C>T (p.Arg644Trp)	rs769896492	0.00001
NM_000289.6(PFKM):c.1628A>C (p.Asp543Ala)	rs121918194	0.00001
NM_000290.4(PGAM2):c.268C>T (p.Arg90Trp)	rs104894034	0.00001
NM_000291.4(PGK1):c.758T>C (p.Ile253Thr)	rs137852534	0.00001
NM_000293.3(PHKB):c.306-2A>G	rs797044442	0.00001
NM_000293.3(PHKB):c.352G>C (p.Ala118Pro)	rs121918022	0.00001
NM_000295.4(SERPINA1):c.1078G>A (p.Ala360Thr)	rs1802959	0.00001
NM_000295.4(SERPINA1):c.721A>T (p.Lys241Ter)	rs199422211	0.00001
NM_000295.5(SERPINA1):c.646+1G>T	rs751235320	0.00001
NM_000298.6(PKLR):c.1269G>A (p.Ala423=)	rs774652817	0.00001
NM_000302.4(PLOD1):c.2032G>A (p.Gly678Arg)	rs121913551	0.00001
NM_000303.3(PMM2):c.563A>G (p.Asp188Gly)	rs80338704	0.00001
NM_000308.4(CTSA):c.146A>G (p.Gln49Arg)	rs137854541	0.00001
NM_000312.4(PROC):c.631C>T (p.Arg211Trp)	rs121918143	0.00001
NM_000312.4(PROC):c.678+9C>T	rs1053253907	0.00001
NM_000317.3(PTS):c.155A>G (p.Asn52Ser)	rs104894275	0.00001
NM_000317.3(PTS):c.347A>G (p.Asp116Gly)	rs104894279	0.00001
NM_000322.5(PRPH2):c.554T>C (p.Leu185Pro)	rs121918563	0.00001
NM_000329.3(RPE65):c.1292A>G (p.Tyr431Cys)	rs62636300	0.00001
NM_000330.4(RS1):c.304C>T (p.Arg102Trp)	rs61752067	0.00001
NM_000334.4(SCN4A):c.4360C>T (p.Arg1454Trp)	rs879253789	0.00001
NM_000335.5(SCN5A):c.3781G>A (p.Gly1261Ser)	rs137854616	0.00001
NM_000335.5(SCN5A):c.4531C>T (p.Arg1511Trp)	rs137854602	0.00001
NM_000340.2(SLC2A2):c.1250C>T (p.Pro417Leu)	rs121909744	0.00001
NM_000341.4(SLC3A1):c.1843C>A (p.Pro615Thr)	rs121912696	0.00001
NM_000342.3(SLC4A1):c.1462G>A (p.Val488Met)	rs28931584	0.00001
NM_000342.4(SLC4A1):c.1669G>A (p.Val557Met)	rs121912743	0.00001
NM_000342.4(SLC4A1):c.1936C>T (p.Arg646Trp)	rs121912758	0.00001
NM_000343.4(SLC5A1):c.1673G>A (p.Arg558His)	rs201799893	0.00001
NM_000343.4(SLC5A1):c.83A>G (p.Asp28Gly)	rs121912669	0.00001
NM_000349.3(STAR):c.135del (p.Ser46fs)	rs193922393	0.00001
NM_000349.3(STAR):c.545G>A (p.Arg182His)	rs104894086	0.00001
NM_000349.3(STAR):c.559G>A (p.Val187Met)	rs104894089	0.00001
NM_000352.6(ABCC8):c.1672-20A>G	rs931436550	0.00001
NM_000352.6(ABCC8):c.4477C>T (p.Arg1493Trp)	rs28936371	0.00001
NM_000359.3(TGM1):c.1075G>A (p.Val359Met)	rs202037016	0.00001
NM_000359.3(TGM1):c.1744C>T (p.Gln582Ter)	rs397514522	0.00001
NM_000359.3(TGM1):c.424C>T (p.Arg142Cys)	rs121918716	0.00001
NM_000359.3(TGM1):c.428G>A (p.Arg143His)	rs121918719	0.00001
NM_000359.3(TGM1):c.652G>A (p.Gly218Ser)	rs121918732	0.00001
NM_000359.3(TGM1):c.943C>T (p.Arg315Cys)	rs397514525	0.00001
NM_000360.4(TH):c.1141C>A (p.Gln381Lys)	rs121917762	0.00001
NM_000360.4(TH):c.614T>C (p.Leu205Pro)	rs121917763	0.00001
NM_000360.4(TH):c.733A>C (p.Thr245Pro)	rs28934581	0.00001
NM_000360.4(TH):c.848C>T (p.Thr283Met)	rs121917764	0.00001
NM_000361.3(THBD):c.1209G>T (p.Arg403Ser)	rs398122807	0.00001
NM_000363.5(TNNI3):c.586G>A (p.Asp196Asn)	rs104894727	0.00001
NM_000363.5(TNNI3):c.5C>T (p.Ala2Val)	rs397516359	0.00001
NM_000365.6(TPI1):c.367G>A (p.Gly123Arg)	rs121964846	0.00001
NM_000369.5(TSHR):c.122G>C (p.Cys41Ser)	rs121908869	0.00001
NM_000369.5(TSHR):c.1430C>T (p.Thr477Ile)	rs121908881	0.00001
NM_000369.5(TSHR):c.928C>T (p.Arg310Cys)	rs121908882	0.00001
NM_000370.3(TTPA):c.552G>A (p.Thr184=)	rs181109321	0.00001
NM_000371.4(TTR):c.88T>C (p.Cys30Arg)	rs121918083	0.00001
NM_000372.5(TYR):c.1209G>T (p.Arg403Ser)	rs104894316	0.00001
NM_000372.5(TYR):c.1255G>A (p.Gly419Arg)	rs61754392	0.00001
NM_000372.5(TYR):c.1501dup (p.Arg501fs)	rs281865328	0.00001
NM_000372.5(TYR):c.616G>A (p.Ala206Thr)	rs28940880	0.00001
NM_000372.5(TYR):c.707G>A (p.Trp236Ter)	rs61754367	0.00001
NM_000379.4(XDH):c.682C>T (p.Arg228Ter)	rs119460972	0.00001
NM_000382.3(ALDH3A2):c.1157A>G (p.Asn386Ser)	rs72547575	0.00001
NM_000384.3(APOB):c.7564C>T (p.Arg2522Ter)	rs121918390	0.00001
NM_000388.4(CASR):c.2915C>T (p.Thr972Met)	rs200620134	0.00001
NM_000391.4(TPP1):c.1340G>A (p.Arg447His)	rs119455956	0.00001
NM_000396.4(CTSK):c.436G>C (p.Gly146Arg)	rs74315302	0.00001
NM_000396.4(CTSK):c.926T>C (p.Leu309Pro)	rs29001685	0.00001
NM_000398.7(CYB5R3):c.719A>G (p.Asp240Gly)	rs121965018	0.00001
NM_000402.4(G6PD):c.233T>C (p.Ile78Thr)	rs76645461	0.00001
NM_000402.4(G6PD):c.682C>T (p.Arg228Cys)	rs137852330	0.00001
NM_000404.4(GLB1):c.1444C>T (p.Arg482Cys)	rs72555365	0.00001
NM_000404.4(GLB1):c.145C>T (p.Arg49Cys)	rs72555358	0.00001
NM_000404.4(GLB1):c.1527G>T (p.Trp509Cys)	rs72555363	0.00001
NM_000406.3(GNRHR):c.851A>G (p.Tyr284Cys)	rs28933074	0.00001
NM_000410.4(HFE):c.314T>C (p.Ile105Thr)	rs28934596	0.00001
NM_000422.3(KRT17):c.280C>T (p.Arg94Cys)	rs58730926	0.00001
NM_000426.4(LAMA2):c.1580G>A (p.Cys527Tyr)	rs121913574	0.00001
NM_000426.4(LAMA2):c.2584T>C (p.Cys862Arg)	rs121913573	0.00001
NM_000429.3(MAT1A):c.164C>A (p.Ala55Asp)	rs118204002	0.00001
NM_000433.4(NCF2):c.230G>A (p.Arg77Gln)	rs119103275	0.00001
NM_000441.2(SLC26A4):c.415+7A>G	rs765884316	0.00001
NM_000441.2(SLC26A4):c.578C>T (p.Thr193Ile)	rs111033348	0.00001
NM_000448.3(RAG1):c.2326C>T (p.Arg776Trp)	rs121918572	0.00001
NM_000466.3(PEX1):c.1991T>C (p.Leu664Pro)	rs121434455	0.00001
NM_000477.7(ALB):c.1573G>A (p.Glu525Lys)	rs75523493	0.00001
NM_000478.6(ALPL):c.535G>A (p.Ala179Thr)	rs121918000	0.00001
NM_000486.6(AQP2):c.190G>A (p.Gly64Arg)	rs104894326	0.00001
NM_000486.6(AQP2):c.377C>T (p.Thr126Met)	rs104894330	0.00001
NM_000486.6(AQP2):c.64C>G (p.Leu22Val)	rs104894336	0.00001
NM_000487.6(ARSA):c.1150G>A (p.Glu384Lys)	rs74315479	0.00001
NM_000487.6(ARSA):c.1174C>T (p.Arg392Trp)	rs74315480	0.00001
NM_000487.6(ARSA):c.370G>A (p.Gly124Ser)	rs74315461	0.00001
NM_000487.6(ARSA):c.868C>T (p.Arg290Cys)	rs74315473	0.00001
NM_000488.4(SERPINC1):c.1256C>T (p.Ala419Val)	rs121909568	0.00001
NM_000488.4(SERPINC1):c.391C>T (p.Leu131Phe)	rs121909567	0.00001
NM_000488.4(SERPINC1):c.655A>G (p.Asn219Asp)	rs121909571	0.00001
NM_000489.6(ATRX):c.4862C>T (p.Thr1621Met)	rs122445106	0.00001
NM_000492.4(CFTR):c.1438G>T (p.Gly480Cys)	rs79282516	0.00001
NM_000492.4(CFTR):c.1572C>A (p.Cys524Ter)	rs121908754	0.00001
NM_000492.4(CFTR):c.1601C>A (p.Ala534Glu)	rs387906368	0.00001
NM_000492.4(CFTR):c.1721C>A (p.Pro574His)	rs121908758	0.00001
NM_000492.4(CFTR):c.273+4A>G	rs387906374	0.00001
NM_000492.4(CFTR):c.2738A>G (p.Tyr913Cys)	rs121909008	0.00001
NM_000492.4(CFTR):c.3746G>A (p.Gly1249Glu)	rs121909040	0.00001
NM_000492.4(CFTR):c.3873G>C (p.Gln1291His)	rs121909015	0.00001
NM_000492.4(CFTR):c.4364C>G (p.Ser1455Ter)	rs121909043	0.00001
NM_000497.4(CYP11B1):c.124C>T (p.Pro42Ser)	rs104894069	0.00001
NM_000497.4(CYP11B1):c.1269T>G (p.Tyr423Ter)	rs267606755	0.00001
NM_000503.6(EYA1):c.1276G>A (p.Gly426Ser)	rs121909199	0.00001
NM_000504.4(F10):c.1073C>T (p.Thr358Met)	rs768222784	0.00001
NM_000504.4(F10):c.161A>G (p.Glu54Gly)	rs121964944	0.00001
NM_000507.4(FBP1):c.490G>A (p.Gly164Ser)	rs121918188	0.00001
NM_000508.3(FGA):c.103C>T (p.Arg35Cys)	rs121909606	0.00001
NM_000508.3(FGA):c.112A>G (p.Arg38Gly)	rs121909608	0.00001
NM_000508.3(FGA):c.92G>T (p.Gly31Val)	rs121909605	0.00001
NM_000512.5(GALNS):c.1460A>G (p.Asn487Ser)	rs118204440	0.00001
NM_000512.5(GALNS):c.612C>G (p.Asn204Lys)	rs118204435	0.00001
NM_000515.5(GH1):c.626G>A (p.Arg209His)	rs137853223	0.00001
NM_000516.7(GNAS):c.602G>A (p.Arg201His)	rs121913495	0.00001
NM_000517.4(HBA2):c.272A>G (p.Lys91Arg)	rs281864873	0.00001
NM_000517.4(HBA2):c.49A>G (p.Lys17Glu)	rs281865555	0.00001
NM_000517.6(HBA2):c.146T>G (p.Leu49Arg)	rs41392146	0.00001
NM_000517.6(HBA2):c.349G>T (p.Glu117Ter)	rs33987053	0.00001
NM_000517.6(HBA2):c.377T>G (p.Leu126Arg)	rs41397847	0.00001
NM_000517.6(HBA2):c.391G>C (p.Ala131Pro)	rs41529844	0.00001
NM_000518.4(HBB):c.149C>T (p.Ser50Phe)	rs33960931	0.00001
NM_000518.4(HBB):c.157G>A (p.Asp53Asn)	rs33961886	0.00001
NM_000518.4(HBB):c.371C>A (p.Thr124Asn)	rs33935383	0.00001
NM_000518.4(HBB):c.374C>A (p.Pro125Gln)	rs33983276	0.00001
NM_000518.4(HBB):c.374C>G (p.Pro125Arg)	rs33983276	0.00001
NM_000518.4(HBB):c.410G>A (p.Gly137Asp)	rs33949486	0.00001
NM_000518.4(HBB):c.430C>T (p.His144Tyr)	rs33929415	0.00001
NM_000518.4(HBB):c.44T>C (p.Leu15Pro)	rs33935445	0.00001
NM_000518.4(HBB):c.68A>C (p.Glu23Ala)	rs33936254	0.00001
NM_000518.4(HBB):c.83C>T (p.Ala28Val)	rs33954632	0.00001
NM_000518.5(HBB):c.122G>A (p.Arg41Lys)	rs34831026	0.00001
NM_000518.5(HBB):c.131A>C (p.Glu44Ala)	rs35262412	0.00001
NM_000518.5(HBB):c.209G>A (p.Gly70Asp)	rs34718174	0.00001
NM_000518.5(HBB):c.286A>G (p.Lys96Glu)	rs33914359	0.00001
NM_000518.5(HBB):c.341T>A (p.Val114Glu)	rs34484056	0.00001
NM_000518.5(HBB):c.380T>C (p.Val127Ala)	rs33925391	0.00001
NM_000518.5(HBB):c.61G>A (p.Val21Met)	rs35890959	0.00001
NM_000520.6(HEXA):c.1177C>T (p.Arg393Ter)	rs121907963	0.00001
NM_000520.6(HEXA):c.1351C>G (p.Leu451Val)	rs28940871	0.00001
NM_000520.6(HEXA):c.1444G>A (p.Glu482Lys)	rs121907952	0.00001
NM_000520.6(HEXA):c.346+1G>C	rs797044432	0.00001
NM_000520.6(HEXA):c.508C>T (p.Arg170Trp)	rs121907972	0.00001
NM_000520.6(HEXA):c.509G>A (p.Arg170Gln)	rs121907957	0.00001
NM_000520.6(HEXA):c.902T>G (p.Met301Arg)	rs121907977	0.00001
NM_000520.6(HEXA):c.972T>A (p.Val324=)	rs28942072	0.00001
NM_000523.4(HOXD13):c.916C>T (p.Arg306Trp)	rs28933082	0.00001
NM_000525.4(KCNJ11):c.761C>T (p.Pro254Leu)	rs104894237	0.00001
NM_000525.4(KCNJ11):c.902G>A (p.Arg301His)	rs74339576	0.00001
NM_000527.4(LDLR):c.313+1G>A	rs112029328	0.00001
NM_000527.5(LDLR):c.1202T>A (p.Leu401His)	rs121908038	0.00001
NM_000527.5(LDLR):c.1285G>A (p.Val429Met)	rs28942078	0.00001
NM_000527.5(LDLR):c.1291G>A (p.Ala431Thr)	rs28942079	0.00001
NM_000527.5(LDLR):c.131G>A (p.Trp44Ter)	rs267607213	0.00001
NM_000527.5(LDLR):c.2000G>A (p.Cys667Tyr)	rs28942083	0.00001
NM_000527.5(LDLR):c.2043C>A (p.Cys681Ter)	rs121908031	0.00001
NM_000527.5(LDLR):c.259T>G (p.Trp87Gly)	rs121908025	0.00001
NM_000527.5(LDLR):c.680_681del (p.Asp227fs)	rs387906305	0.00001
NM_000527.5(LDLR):c.693C>A (p.Cys231Ter)	rs121908035	0.00001
NM_000527.5(LDLR):c.782G>T (p.Cys261Phe)	rs121908040	0.00001
NM_000528.4(MAN2B1):c.1067C>G (p.Pro356Arg)	rs121434333	0.00001
NM_000530.8(MPZ):c.186C>G (p.Ile62Met)	rs121913605	0.00001
NM_000532.5(PCCB):c.502G>A (p.Glu168Lys)	rs121964960	0.00001
NM_000539.3(RHO):c.1040C>T (p.Pro347Leu)	rs29001566	0.00001
NM_000539.3(RHO):c.936+1G>T	rs776014770	0.00001
NM_000540.3(RYR1):c.14545G>A (p.Val4849Ile)	rs118192168	0.00001
NM_000540.3(RYR1):c.6487C>T (p.Arg2163Cys)	rs118192175	0.00001
NM_000540.3(RYR1):c.7372C>T (p.Arg2458Cys)	rs28933397	0.00001
NM_000540.3(RYR1):c.7373G>A (p.Arg2458His)	rs121918594	0.00001
NM_000545.8(HNF1A):c.955G>A (p.Gly319Ser)	rs137853240	0.00001
NM_000546.6(TP53):c.725G>A (p.Cys242Tyr)	rs121912655	0.00001
NM_000546.6(TP53):c.844C>T (p.Arg282Trp)	rs28934574	0.00001
NM_000549.5(TSHB):c.145G>A (p.Gly49Arg)	rs121918668	0.00001
NM_000551.4(VHL):c.499C>T (p.Arg167Trp)	rs5030820	0.00001
NM_000551.4(VHL):c.548C>T (p.Ser183Leu)	rs5030823	0.00001
NM_000554.6(CRX):c.122G>A (p.Arg41Gln)	rs61748436	0.00001
NM_000558.3(HBA1):c.226G>T (p.Asp76Tyr)	rs33977363	0.00001
NM_000558.3(HBA1):c.256G>A (p.Asp86Asn)	rs33915947	0.00001
NM_000558.3(HBA1):c.341T>A (p.Leu114His)	rs35654345	0.00001
NM_000558.3(HBA1):c.389T>C (p.Leu130Pro)	rs35993655	0.00001
NM_000558.5(HBA1):c.337C>G (p.His113Asp)	rs34830032	0.00001
NM_000558.5(HBA1):c.362C>A (p.Ala121Glu)	rs63749927	0.00001
NM_000558.5(HBA1):c.364G>A (p.Val122Met)	rs63751008	0.00001
NM_000558.5(HBA1):c.384G>C (p.Lys128Asn)	rs63749865	0.00001
NM_000642.3(AGL):c.1735+1G>T	rs199922945	0.00001
NM_000685.5(AGTR1):c.110dup (p.Ile38fs)	rs387906577	0.00001
NM_000687.4(AHCY):c.145C>T (p.Arg49Cys)	rs369428934	0.00001
NM_000702.4(ATP1A2):c.1244C>T (p.Thr415Met)	rs121918618	0.00001
NM_000702.4(ATP1A2):c.2152G>A (p.Asp718Asn)	rs121918614	0.00001
NM_000709.4(BCKDHA):c.745G>A (p.Gly249Ser)	rs137852874	0.00001
NM_000709.4(BCKDHA):c.793C>T (p.Arg265Trp)	rs137852873	0.00001
NM_000709.4(BCKDHA):c.868G>A (p.Gly290Arg)	rs137852871	0.00001
NM_000709.4(BCKDHA):c.929C>G (p.Thr310Arg)	rs137852875	0.00001
NM_000733.4(CD3E):c.520+2T>C	rs483352928	0.00001
NM_000755.5(CRAT):c.962G>A (p.Arg321His)	rs138665095	0.00001
NM_000769.1(CYP2C19):c.1297C>T (p.Arg433Trp)	rs56337013	0.00001
NM_000781.3(CYP11A1):c.1057C>T (p.Arg353Trp)	rs72547508	0.00001
NM_000784.4(CYP27A1):c.1214G>A (p.Arg405Gln)	rs121908099	0.00001
NM_000784.4(CYP27A1):c.1420C>T (p.Arg474Trp)	rs121908098	0.00001
NM_000785.4(CYP27B1):c.320G>A (p.Arg107His)	rs28934604	0.00001
NM_000844.4(GRM7):c.1973G>A (p.Arg658Gln)	rs769709112	0.00001
NM_001002294.3(FMO3):c.198G>T (p.Met66Ile)	rs72549323	0.00001
NM_001002294.3(FMO3):c.94G>A (p.Glu32Lys)	rs72549320	0.00001
NM_001002755.4(NFU1):c.302+3A>G	rs559190059	0.00001
NM_001003800.2(BICD2):c.2108C>T (p.Thr703Met)	rs371707778	0.00001
NM_001003841.3(SLC6A19):c.908C>T (p.Ser303Leu)	rs201212000	0.00001
NM_001009944.3(PKD1):c.2534T>C (p.Leu845Ser)	rs199476100	0.00001
NM_001013703.4(EIF2AK4):c.1754G>A (p.Arg585Gln)	rs587777106	0.00001
NM_001013838.3(CARMIL2):c.1916T>A (p.Leu639His)	rs775061512	0.00001
NM_001014437.3(CARS1):c.1271G>A (p.Arg424His)	rs777861752	0.00001
NM_001017361.3(KHDC3L):c.1A>G (p.Met1Val)	rs606231235	0.00001
NM_001017974.2(P4HA2):c.871G>A (p.Glu291Lys)	rs758872875	0.00001
NM_001017995.3(SH3PXD2B):c.127C>T (p.Arg43Trp)	rs267607046	0.00001
NM_001018115.3(FANCD2):c.3707G>A (p.Arg1236His)	rs121917786	0.00001
NM_001031710.3(KLHL7):c.1258C>T (p.Arg420Cys)	rs780705654	0.00001
NM_001031710.3(KLHL7):c.976C>T (p.Arg326Ter)	rs77078070	0.00001
NM_001032386.2(SUOX):c.650G>A (p.Arg217Gln)	rs121908007	0.00001
NM_001033.5(RRM1):c.1142G>A (p.Arg381His)	rs2094584404	0.00001
NM_001033855.3(DCLRE1C):c.103C>G (p.His35Asp)	rs121908159	0.00001
NM_001034116.2(EIF2B4):c.1465T>C (p.Tyr489His)	rs113994040	0.00001
NM_001037.5(SCN1B):c.448+88G>A	rs267607028	0.00001
NM_001038603.3(MARVELD2):c.1183-1G>A	rs200781822	0.00001
NM_001038603.3(MARVELD2):c.1331+1G>A	rs762352115	0.00001
NM_001039141.3(TRIOBP):c.3202C>T (p.Arg1068Ter)	rs118204030	0.00001
NM_001039348.3(EFEMP1):c.1033C>T (p.Arg345Trp)	rs121434491	0.00001
NM_001040108.2(MLH3):c.3826T>C (p.Trp1276Arg)	rs121908439	0.00001
NM_001040716.2(PC):c.467G>A (p.Arg156Gln)	rs119103241	0.00001
NM_001042646.3(TRAK1):c.986T>C (p.Leu329Pro)	rs770281448	0.00001
NM_001042681.2(RERE):c.3466G>A (p.Gly1156Arg)	rs766951273	0.00001
NM_001042702.5(PJVK):c.547C>T (p.Arg183Trp)	rs111706634	0.00001
NM_001044.5(SLC6A3):c.1561C>T (p.Arg521Trp)	rs431905516	0.00001
NM_001077350.3(NPRL3):c.1270C>T (p.Arg424Ter)	rs886037961	0.00001
NM_001077365.2(POMT1):c.598G>C (p.Ala200Pro)	rs119462982	0.00001
NM_001077653.2(TBX20):c.456C>G (p.Ile152Met)	rs137852954	0.00001
NM_001079872.2(CUL4B):c.95C>T (p.Pro32Leu)	rs869320682	0.00001
NM_001080.3(ALDH5A1):c.1226G>A (p.Gly409Asp)	rs118203984	0.00001
NM_001080397.3(SLC45A1):c.526C>T (p.Arg176Trp)	rs781036625	0.00001
NM_001080421.3(UNC13A):c.304C>T (p.Gln102Ter)	rs1057517677	0.00001
NM_001080449.3(DNA2):c.593G>A (p.Arg198His)	rs1272393477	0.00001
NM_001080472.4(FITM2):c.694G>A (p.Gly232Arg)	rs765281145	0.00001
NM_001080476.3(GRXCR1):c.412C>T (p.Arg138Cys)	rs267606856	0.00001
NM_001080477.4(TENM3):c.7687C>T (p.Arg2563Trp)	rs755000701	0.00001
NM_001080508.3(TBX18):c.1570C>T (p.His524Tyr)	rs760905589	0.00001
NM_001080512.3(BICC1):c.2795A>G (p.Glu932Gly)	rs387907124	0.00001
NM_001083961.2(WDR62):c.1313G>A (p.Arg438His)	rs387907082	0.00001
NM_001083961.2(WDR62):c.1531G>A (p.Asp511Asn)	rs387907083	0.00001
NM_001085411.3(NADK2):c.1018C>T (p.Arg340Ter)	rs587777772	0.00001
NM_001097577.3(ANG):c.155G>A (p.Ser52Asn)	rs121909542	0.00001
NM_001098668.4(SFTPA2):c.532G>A (p.Val178Met)	rs371035540	0.00001
NM_001102401.4(TTI2):c.950A>T (p.Asp317Val)	rs200045967	0.00001
NM_001105206.3(LAMA4):c.2849C>T (p.Pro950Leu)	rs387907365	0.00001
NM_001106.4(ACVR2B):c.1480G>A (p.Val494Ile)	rs121434438	0.00001
NM_001110556.2(FLNA):c.3557C>T (p.Ser1186Leu)	rs137853312	0.00001
NM_001122764.3(PPOX):c.503G>A (p.Arg168His)	rs41270025	0.00001
NM_001122955.4(BSCL2):c.461C>T (p.Ser154Leu)	rs137852973	0.00001
NM_001126108.2(SLC12A3):c.1046C>T (p.Pro349Leu)	rs121909383	0.00001
NM_001126108.2(SLC12A3):c.1926-1G>T	rs755560627	0.00001
NM_001127198.5(TMC6):c.280C>T (p.Arg94Ter)	rs121908327	0.00001
NM_001127671.2(LIFR):c.2170C>G (p.Pro724Ala)	rs863225047	0.00001
NM_001128159.3(VPS53):c.1556+5G>A	rs587777466	0.00001
NM_001130004.2(ACTN1):c.137G>A (p.Arg46Gln)	rs387907348	0.00001
NM_001130987.2(DYSF):c.991G>A (p.Gly331Arg)	rs121908963	0.00001
NM_001134363.3(RBM20):c.1907G>A (p.Arg636His)	rs267607004	0.00001
NM_001134382.3(IQSEC1):c.962G>A (p.Arg321Gln)	rs758170522	0.00001
NM_001134665.3(TRMT10A):c.379C>T (p.Arg127Ter)	rs587777743	0.00001
NM_001135022.2(ELMOD3):c.512A>G (p.His171Arg)	rs1280785617	0.00001
NM_001136191.3(KANK2):c.541A>G (p.Ser181Gly)	rs1555820663	0.00001
NM_001136193.2(FASTKD2):c.1294C>T (p.Arg432Ter)	rs118203917	0.00001
NM_001136271.3(NKX2-6):c.453_454insT (p.Lys152Ter)	rs587777422	0.00001
NM_001137601.3(ZBTB42):c.1190G>A (p.Arg397His)	rs730882163	0.00001
NM_001139.3(ALOX12B):c.1294C>T (p.Arg432Ter)	rs397514527	0.00001
NM_001139.3(ALOX12B):c.340C>T (p.Arg114Trp)	rs397514526	0.00001
NM_001142784.3(IL11RA):c.662C>G (p.Pro221Arg)	rs387906785	0.00001
NM_001143992.2(WRAP53):c.1303G>A (p.Gly435Arg)	rs281865550	0.00001
NM_001144869.3(LIPT2):c.314T>G (p.Leu105Arg)	rs1190703859	0.00001
NM_001145073.3(USP27X):c.1211G>A (p.Ser404Asn)	rs1557162761	0.00001
NM_001145860.2(POP1):c.1748G>A (p.Gly583Glu)	rs374828868	0.00001
NM_001159773.2(CANT1):c.896C>T (p.Pro299Leu)	rs267606700	0.00001
NM_001159773.2(CANT1):c.899G>A (p.Arg300His)	rs267606699	0.00001
NM_001161.5(NUDT2):c.34C>T (p.Arg12Ter)	rs148119952	0.00001
NM_001162498.3(LPAR6):c.565G>A (p.Glu189Lys)	rs121434309	0.00001
NM_001162498.3(LPAR6):c.587C>T (p.Pro196Leu)	rs115596308	0.00001
NM_001164277.2(SLC37A4):c.287G>A (p.Trp96Ter)	rs121908976	0.00001
NM_001164277.2(SLC37A4):c.83G>A (p.Arg28His)	rs121908978	0.00001
NM_001164405.2(BHLHA9):c.218G>C (p.Arg73Pro)	rs672601338	0.00001
NM_001166114.2(PNPLA6):c.760G>A (p.Val254Ile)	rs587777184	0.00001
NM_001171.6(ABCC6):c.3961G>A (p.Gly1321Ser)	rs63749823	0.00001
NM_001174089.2(SLC4A11):c.2518A>G (p.Met840Val)	rs121909396	0.00001
NM_001174089.2(SLC4A11):c.2557C>T (p.Arg853Cys)	rs121909391	0.00001
NM_001195129.2(PRSS56):c.958G>A (p.Gly320Arg)	rs730882158	0.00001
NM_001195263.2(PDZD7):c.682G>A (p.Gly228Arg)	rs753034799	0.00001
NM_001195518.2(MICU1):c.547C>T (p.Gln183Ter)	rs777327250	0.00001
NM_001199107.2(TBC1D24):c.1079G>A (p.Arg360His)	rs765965968	0.00001
NM_001211.6(BUB1B):c.2441G>A (p.Arg814His)	rs28989182	0.00001
NM_001211.6(BUB1B):c.3035T>C (p.Leu1012Pro)	rs28989185	0.00001
NM_001211.6(BUB1B):c.580C>T (p.Arg194Ter)	rs28989186	0.00001
NM_001218.5(CA12):c.427G>A (p.Glu143Lys)	rs267606694	0.00001
NM_001242896.3(DEPDC5):c.1459C>T (p.Arg487Ter)	rs587777459	0.00001
NM_001242957.3(MAK):c.37G>A (p.Gly13Ser)	rs387906647	0.00001
NM_001243133.2(NLRP3):c.55G>C (p.Asp19His)	rs200154873	0.00001
NM_001243279.3(ACSF3):c.1412G>A (p.Arg471Gln)	rs387907119	0.00001
NM_001256071.3(RNF213):c.12037G>A (p.Asp4013Asn)	rs397514563	0.00001
NM_001258392.3(CLPB):c.1143G>A (p.Met381Ile)	rs786205137	0.00001
NM_001271938.2(MEGF8):c.4697G>A (p.Arg1566His)	rs397515427	0.00001
NM_001276345.2(TNNT2):c.266T>A (p.Ile89Asn)	rs121964855	0.00001
NM_001276345.2(TNNT2):c.305G>A (p.Arg102Gln)	rs121964856	0.00001
NM_001277115.2(DNAH11):c.7772C>T (p.Pro2591Leu)	rs387907258	0.00001
NM_001281740.3(FHOD3):c.1583A>G (p.Tyr528Cys)	rs2036159242	0.00001
NM_001283009.2(RTEL1):c.1476G>T (p.Met492Ile)	rs370343781	0.00001
NM_001292063.2(OTOG):c.6523C>T (p.Arg2175Ter)	rs397514608	0.00001
NM_001302084.2(TOP6BL):c.1006T>C (p.Ser336Pro)	rs1449401018	0.00001
NM_001321967.2(ATAD1):c.1070_1071del (p.His357fs)	rs751499706	0.00001
NM_001330691.3(CEP78):c.1447C>T (p.Arg483Ter)	rs1210581905	0.00001
NM_001352514.2(HLCS):c.1088T>G (p.Leu363Arg)	rs28934602	0.00001
NM_001352514.2(HLCS):c.1151T>C (p.Leu384Pro)	rs119103227	0.00001
NM_001352514.2(HLCS):c.1963C>T (p.Arg655Trp)	rs119103229	0.00001
NM_001352514.2(HLCS):c.2089G>A (p.Val697Met)	rs119103231	0.00001
NM_001354483.2(CSGALNACT1):c.1151C>G (p.Pro384Arg)	rs746391651	0.00001
NM_001354712.2(THRB):c.1148G>A (p.Arg383His)	rs121918708	0.00001
NM_001358530.2(MOCS1):c.956G>A (p.Arg319Gln)	rs104893969	0.00001
NM_001360.3(DHCR7):c.412+3A>T	rs786200926	0.00001
NM_001360.3(DHCR7):c.852C>A (p.Phe284Leu)	rs184297154	0.00001
NM_001360.3(DHCR7):c.866C>T (p.Thr289Ile)	rs121909765	0.00001
NM_001361.5(DHODH):c.730C>T (p.Arg244Trp)	rs267606768	0.00001
NM_001363118.2(SLC52A2):c.368T>C (p.Leu123Pro)	rs397514538	0.00001
NM_001363118.2(SLC52A2):c.401C>T (p.Pro134Leu)	rs1447838904	0.00001
NM_001365088.1(SLC12A6):c.619C>T (p.Arg207Cys)	rs121908429	0.00001
NM_001365276.2(TNXB):c.9770C>T (p.Thr3257Ile)	rs587777683	0.00001
NM_001365951.3(KIF1B):c.4580G>A (p.Ser1527Asn)	rs121908164	0.00001
NM_001367975.1(BTG4):c.166G>A (p.Ala56Thr)	rs1865879702	0.00001
NM_001368809.2(AMPD2):c.1859G>A (p.Arg620His)	rs587777395	0.00001
NM_001369369.1(FOXN1):c.958C>T (p.Arg320Trp)	rs1288977950	0.00001
NM_001370298.3(FGD4):c.1234C>T (p.Arg412Ter)	rs118203974	0.00001
NM_001370298.3(FGD4):c.2167G>T (p.Gly723Ter)	rs118203973	0.00001
NM_001370658.1(BTD):c.175C>T (p.Arg59Cys)	rs104893687	0.00001
NM_001370658.1(BTD):c.40G>A (p.Gly14Ser)	rs119103232	0.00001
NM_001371596.2(MFSD8):c.1235C>T (p.Pro412Leu)	rs267607235	0.00001
NM_001371986.1(UNC80):c.1078C>T (p.Arg360Ter)	rs200659479	0.00001
NM_001371986.1(UNC80):c.3787C>T (p.Arg1263Ter)	rs864321622	0.00001
NM_001372.4(DNAH9):c.8708-2A>G	rs143007518	0.00001
NM_001372051.1(CASP8):c.742C>T (p.Arg248Trp)	rs17860424	0.00001
NM_001372106.1(DNAH10):c.13192G>A (p.Gly4398Arg)	rs759073156	0.00001
NM_001374385.1(ATP8B1):c.2097+2T>C	rs387906381	0.00001
NM_001374504.1(TMPRSS6):c.1038C>A (p.Tyr346Ter)	rs137853121	0.00001
NM_001374504.1(TMPRSS6):c.1355del (p.Glu452fs)	rs1384933966	0.00001
NM_001374623.1(PNPLA1):c.100G>A (p.Ala34Thr)	rs1182312612	0.00001
NM_001375405.1(CEP120):c.451C>T (p.Arg151Ter)	rs757499322	0.00001
NM_001377.3(DYNC2H1):c.1759C>T (p.Arg587Cys)	rs137853030	0.00001
NM_001377.3(DYNC2H1):c.5971A>T (p.Met1991Leu)	rs137853025	0.00001
NM_001377.3(DYNC2H1):c.6614G>A (p.Arg2205His)	rs137853031	0.00001
NM_001377.3(DYNC2H1):c.7985G>A (p.Arg2662Gln)	rs397514635	0.00001
NM_001377299.1(NDUFS2):c.1237T>C (p.Ser413Pro)	rs121434429	0.00001
NM_001378156.1(C1QB):c.523C>T (p.Arg175Ter)	rs751172449	0.00001
NM_001378183.1(PIEZO2):c.5227C>T (p.Arg1743Ter)	rs886039821	0.00001
NM_001378454.1(ALMS1):c.8161C>T (p.Arg2721Ter)	rs193919340	0.00001
NM_001379210.1(SLC25A26):c.33+1G>A	rs781798317	0.00001
NM_001379659.1(ZNF142):c.4298G>T (p.Cys1433Phe)	rs1275959058	0.00001
NM_001384140.1(PCDH15):c.7C>T (p.Arg3Ter)	rs137853001	0.00001
NM_001385.3(DPYS):c.750G>A (p.Met250Ile)	rs751371011	0.00001
NM_001386140.1(MTTP):c.1867+5G>A	rs1429774833	0.00001
NM_001386393.1(PANK2):c.1111C>T (p.Arg371Ter)	rs137852968	0.00001
NM_001386393.1(PANK2):c.370A>G (p.Thr124Ala)	rs137852965	0.00001
NM_001386393.1(PANK2):c.460C>T (p.Arg154Trp)	rs137852961	0.00001
NM_001386393.1(PANK2):c.526C>T (p.Arg176Cys)	rs137852962	0.00001
NM_001386795.1(DTNA):c.146A>G (p.Asn49Ser)	rs775975702	0.00001
NM_001387263.1(PATL2):c.1108G>A (p.Gly370Arg)	rs1397500378	0.00001
NM_001447.3(FAT2):c.10758G>C (p.Lys3586Asn)	rs770597316	0.00001
NM_001457.4(FLNB):c.4819C>T (p.Arg1607Ter)	rs80356520	0.00001
NM_001543.5(NDST1):c.1831G>A (p.Gly611Ser)	rs606231459	0.00001
NM_001571.6(IRF3):c.854G>A (p.Arg285Gln)	rs750526659	0.00001
NM_001605.3(AARS1):c.2738G>A (p.Gly913Asp)	rs369774476	0.00001
NM_001609.4(ACADSB):c.1228G>A (p.Gly410Ser)	rs387906409	0.00001
NM_001609.4(ACADSB):c.295C>T (p.Gln99Ter)	rs760791287	0.00001
NM_001609.4(ACADSB):c.303+3A>G	rs1345480688	0.00001
NM_001611.5(ACP5):c.831_833del (p.Tyr278del)	rs387906671	0.00001
NM_001673.5(ASNS):c.1648C>T (p.Arg550Cys)	rs398122974	0.00001
NM_001692.4(ATP6V1B1):c.1248+1G>C	rs1553420702	0.00001
NM_001692.4(ATP6V1B1):c.242T>C (p.Leu81Pro)	rs121964880	0.00001
NM_001739.2(CA5A):c.697T>C (p.Ser233Pro)	rs587777316	0.00001
NM_001845.6(COL4A1):c.3832G>A (p.Gly1278Ser)	rs757453900	0.00001
NM_001846.4(COL4A2):c.1776+1G>A	rs886039602	0.00001
NM_001875.5(CPS1):c.1631C>T (p.Thr544Met)	rs121912592	0.00001
NM_001876.4(CPT1A):c.2129G>A (p.Gly710Glu)	rs80356780	0.00001
NM_001931.5(DLAT):c.1728C>A (p.Phe576Leu)	rs119103240	0.00001
NM_001943.5(DSG2):c.1520G>A (p.Cys507Tyr)	rs121913009	0.00001
NM_001943.5(DSG2):c.991G>A (p.Glu331Lys)	rs121913012	0.00001
NM_001953.5(TYMP):c.854T>C (p.Leu285Pro)	rs121913042	0.00001
NM_002047.4(GARS1):c.1660G>A (p.Asp554Asn)	rs137852647	0.00001
NM_002133.3(HMOX1):c.636+2T>A	rs747083748	0.00001
NM_002150.3(HPD):c.479A>G (p.Tyr160Cys)	rs137852865	0.00001
NM_002204.4(ITGA3):c.1387C>T (p.Arg463Trp)	rs797044989	0.00001
NM_002234.4(KCNA5):c.1727C>T (p.Ala576Val)	rs121908592	0.00001
NM_002241.5(KCNJ10):c.524G>A (p.Arg175Gln)	rs397514673	0.00001
NM_002246.3(KCNK3):c.544G>A (p.Glu182Lys)	rs398123042	0.00001
NM_002292.4(LAMB2):c.736C>T (p.Arg246Trp)	rs121912488	0.00001
NM_002296.4(LBR):c.1366C>G (p.Leu456Val)	rs377110126	0.00001
NM_002334.4(LRP4):c.3830G>A (p.Arg1277His)	rs746136135	0.00001
NM_002335.4(LRP5):c.1330C>T (p.Arg444Cys)	rs80358308	0.00001
NM_002335.4(LRP5):c.4651G>A (p.Asp1551Asn)	rs724159827	0.00001
NM_002340.6(LSS):c.1762G>A (p.Gly588Ser)	rs561449819	0.00001
NM_002382.5(MAX):c.223C>T (p.Arg75Ter)	rs387906650	0.00001
NM_002437.5(MPV17):c.122G>A (p.Arg41Gln)	rs140992482	0.00001
NM_002437.5(MPV17):c.359G>A (p.Trp120Ter)	rs121909724	0.00001
NM_002439.5(MSH3):c.2319-1G>A	rs866260675	0.00001
NM_002454.3(MTRR):c.1361C>T (p.Ser454Leu)	rs137853062	0.00001
NM_002468.5(MYD88):c.586C>T (p.Arg196Cys)	rs137853064	0.00001
NM_002468.5(MYD88):c.751C>T (p.Arg251Ter)	rs748659894	0.00001
NM_002473.6(MYH9):c.2105G>A (p.Arg702His)	rs80338827	0.00001
NM_002496.4(NDUFS8):c.413G>A (p.Arg138His)	rs111033588	0.00001
NM_002522.4(NPTX1):c.1165G>A (p.Gly389Arg)	rs1466750124	0.00001
NM_002528.7(NTHL1):c.685+1G>A	rs372946560	0.00001
NM_002529.4(NTRK1):c.1550G>A (p.Gly517Glu)	rs606231467	0.00001
NM_002529.4(NTRK1):c.2084C>T (p.Pro695Leu)	rs121964868	0.00001
NM_002769.5(PRSS1):c.365G>A (p.Arg122His)	rs111033565	0.00001
NM_002769.5(PRSS1):c.86A>T (p.Asn29Ile)	rs111033566	0.00001
NM_002778.4(PSAP):c.650C>T (p.Thr217Ile)	rs121918103	0.00001
NM_002834.5(PTPN11):c.1529A>G (p.Gln510Arg)	rs121918470	0.00001
NM_002834.5(PTPN11):c.188A>G (p.Tyr63Cys)	rs121918459	0.00001
NM_002860.4(ALDH18A1):c.1273C>T (p.Arg425Cys)	rs762742204	0.00001
NM_002878.4(RAD51D):c.803G>A (p.Trp268Ter)	rs750219200	0.00001
NM_002905.5(RDH5):c.530T>G (p.Val177Gly)	rs104894373	0.00001
NM_002906.4(RDX):c.698+1G>A	rs1191259480	0.00001
NM_002936.6(RNASEH1):c.424G>A (p.Val142Ile)	rs766294940	0.00001
NM_002972.4(SBF1):c.1249A>G (p.Met417Val)	rs587776986	0.00001
NM_003000.3(SDHB):c.304G>A (p.Ala102Thr)	rs777578399	0.00001
NM_003000.3(SDHB):c.689G>A (p.Arg230His)	rs587782604	0.00001
NM_003000.3(SDHB):c.725G>A (p.Arg242His)	rs74315368	0.00001
NM_003038.5(SLC1A4):c.1141G>A (p.Gly381Arg)	rs1674240361	0.00001
NM_003038.5(SLC1A4):c.1369C>T (p.Arg457Trp)	rs761533681	0.00001
NM_003060.4(SLC22A5):c.396G>A (p.Trp132Ter)	rs72552727	0.00001
NM_003060.4(SLC22A5):c.43G>T (p.Gly15Trp)	rs267607052	0.00001
NM_003060.4(SLC22A5):c.632A>G (p.Tyr211Cys)	rs121908888	0.00001
NM_003086.4(SNAPC4):c.2527+1G>A	rs1194239835	0.00001
NM_003126.4(SPTA1):c.137G>T (p.Gly46Val)	rs121918638	0.00001
NM_003126.4(SPTA1):c.82C>T (p.Arg28Cys)	rs121918642	0.00001
NM_003201.3(TFAM):c.533C>T (p.Pro178Leu)	rs757075712	0.00001
NM_003235.5(TG):c.6725G>A (p.Arg2242His)	rs2069566	0.00001
NM_003242.6(TGFBR2):c.95-2A>G	rs779131465	0.00001
NM_003244.4(TGIF1):c.485C>T (p.Ser162Phe)	rs121909069	0.00001
NM_003283.6(TNNT1):c.309+1G>A	rs149559898	0.00001
NM_003285.3(TNR):c.3574C>T (p.Arg1192Trp)	rs1571308125	0.00001
NM_003332.4(TYROBP):c.141del (p.Met48fs)	rs386833840	0.00001
NM_003359.4(UGDH):c.41A>G (p.Tyr14Cys)	rs369608407	0.00001
NM_003384.3(VRK1):c.266G>A (p.Arg89Gln)	rs773138218	0.00001
NM_003384.3(VRK1):c.397C>T (p.Arg133Cys)	rs387906830	0.00001
NM_003477.3(PDHX):c.1336C>T (p.Arg446Ter)	rs1135402725	0.00001
NM_003551.3(NME5):c.572G>A (p.Trp191Ter)	rs182049871	0.00001
NM_003560.4(PLA2G6):c.929T>A (p.Val310Glu)	rs121908682	0.00001
NM_003571.4(BFSP2):c.859C>T (p.Arg287Trp)	rs104893685	0.00001
NM_003630.3(PEX3):c.991G>A (p.Gly331Arg)	rs1057523689	0.00001
NM_003632.3(CNTNAP1):c.967T>C (p.Cys323Arg)	rs768554986	0.00001
NM_003676.4(DEGS1):c.337A>G (p.Asn113Asp)	rs1280845604	0.00001
NM_003722.5(TP63):c.728G>A (p.Arg243Gln)	rs121908836	0.00001
NM_003801.4(GPAA1):c.527G>C (p.Trp176Ser)	rs782220208	0.00001
NM_003865.3(HESX1):c.18G>C (p.Gln6His)	rs121909173	0.00001
NM_003865.3(HESX1):c.509C>T (p.Ser170Leu)	rs28936703	0.00001
NM_003907.3(EIF2B5):c.583C>T (p.Arg195Cys)	rs113994055	0.00001
NM_003924.4(PHOX2B):c.785G>T (p.Gly262Val)	rs768420488	0.00001
NM_003982.4(SLC7A7):c.161G>T (p.Gly54Val)	rs121908677	0.00001
NM_004004.6(GJB2):c.131G>A (p.Trp44Ter)	rs104894413	0.00001
NM_004004.6(GJB2):c.428G>A (p.Arg143Gln)	rs104894401	0.00001
NM_004092.4(ECHS1):c.176A>G (p.Asn59Ser)	rs201865375	0.00001
NM_004130.4(GYG1):c.970C>T (p.Arg324Ter)	rs727502869	0.00001
NM_004168.4(SDHA):c.1660C>T (p.Arg554Trp)	rs9809219	0.00001
NM_004168.4(SDHA):c.1753C>T (p.Arg585Trp)	rs200397144	0.00001
NM_004174.4(SLC9A3):c.1039G>A (p.Glu347Lys)	rs766583286	0.00001
NM_004183.4(BEST1):c.682G>A (p.Asp228Asn)	rs267606676	0.00001
NM_004184.4(WARS1):c.397C>T (p.Arg133Cys)	rs764391035	0.00001
NM_004208.4(AIFM1):c.1265G>A (p.Arg422Gln)	rs724160021	0.00001
NM_004239.4(TRIP11):c.202-2A>G	rs863223281	0.00001
NM_004249.4(RAB28):c.651T>G (p.Cys217Trp)	rs751163782	0.00001
NM_004260.4(RECQL4):c.3056-2A>C	rs786200889	0.00001
NM_004269.4(MED27):c.188T>G (p.Val63Gly)	rs774752053	0.00001
NM_004269.4(MED27):c.871G>A (p.Gly291Ser)	rs774276967	0.00001
NM_004281.4(BAG3):c.367C>T (p.Arg123Ter)	rs387906875	0.00001
NM_004301.5(ACTL6A):c.1129C>T (p.Arg377Trp)	rs868064163	0.00001
NM_004318.4(ASPH):c.2127-2del	rs1200332180	0.00001
NM_004320.6(ATP2A1):c.1287G>A (p.Glu429=)	rs200596448	0.00001
NM_004320.6(ATP2A1):c.2366C>T (p.Pro789Leu)	rs121918115	0.00001
NM_004333.6(BRAF):c.722C>T (p.Thr241Met)	rs387906660	0.00001
NM_004446.3(EPRS1):c.3344C>G (p.Pro1115Arg)	rs1288116010	0.00001
NM_004484.4(GPC3):c.1705G>A (p.Ala569Thr)	rs122453120	0.00001
NM_004531.5(MOCS2):c.567A>C (p.Ter189Tyr)	rs121908609	0.00001
NM_004539.4(NARS1):c.1633C>T (p.Arg545Cys)	rs770931044	0.00001
NM_004544.4(NDUFA10):c.1A>G (p.Met1Val)	rs387906872	0.00001
NM_004551.3(NDUFS3):c.419G>A (p.Arg140Gln)	rs372417584	0.00001
NM_004569.5(PIGH):c.487C>T (p.Arg163Trp)	rs370763975	0.00001
NM_004646.4(NPHS1):c.1481del (p.Ser494fs)	rs386833883	0.00001
NM_004700.4(KCNQ4):c.961G>A (p.Gly321Ser)	rs28939710	0.00001
NM_004782.4(SNAP29):c.2T>C (p.Met1Thr)	rs886041240	0.00001
NM_004795.4(KL):c.578A>G (p.His193Arg)	rs121908423	0.00001
NM_004826.4(ECEL1):c.1252C>T (p.Arg418Cys)	rs587776919	0.00001
NM_004826.4(ECEL1):c.2023G>A (p.Ala675Thr)	rs606231471	0.00001
NM_004855.5(PIGB):c.212G>A (p.Arg71Gln)	rs369838467	0.00001
NM_004863.4(SPTLC2):c.1075G>A (p.Val359Met)	rs267607090	0.00001
NM_004870.4(MPDU1):c.511del (p.Leu171fs)	rs756471132	0.00001
NM_004946.3(DOCK2):c.3310C>T (p.Arg1104Trp)	rs780318765	0.00001
NM_004985.5(KRAS):c.35G>A (p.Gly12Asp)	rs121913529	0.00001
NM_005002.5(NDUFA9):c.1061G>A (p.Arg354Gln)	rs764064779	0.00001
NM_005002.5(NDUFA9):c.1078C>T (p.Arg360Cys)	rs3210083	0.00001
NM_005006.7(NDUFS1):c.1222C>T (p.Arg408Cys)	rs149271416	0.00001
NM_005006.7(NDUFS1):c.721C>T (p.Arg241Trp)	rs199422225	0.00001
NM_005051.3(QARS1):c.1207C>T (p.Arg403Trp)	rs587777332	0.00001
NM_005051.3(QARS1):c.1543C>T (p.Arg515Trp)	rs587777334	0.00001
NM_005061.3(RPL3L):c.80G>A (p.Gly27Asp)	rs770344400	0.00001
NM_005061.3(RPL3L):c.922G>A (p.Asp308Asn)	rs771732216	0.00001
NM_005084.4(PLA2G7):c.663+1G>A	rs201899866	0.00001
NM_005159.5(ACTC1):c.268C>T (p.His90Tyr)	rs121912676	0.00001
NM_005159.5(ACTC1):c.301G>A (p.Glu101Lys)	rs193922680	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_005199.5(CHRNG):c.1408C>T (p.Arg470Ter)	rs121912671	0.00001
NM_005199.5(CHRNG):c.715C>T (p.Arg239Cys)	rs121912670	0.00001
NM_005264.8(GFRA1):c.676C>T (p.Arg226Ter)	rs191814086	0.00001
NM_005273.4(GNB2):c.217G>A (p.Ala73Thr)	rs1424516740	0.00001
NM_005422.4(TECTA):c.3169T>A (p.Cys1057Ser)	rs121909059	0.00001
NM_005477.3(HCN4):c.1657G>A (p.Asp553Asn)	rs104894485	0.00001
NM_005502.4(ABCA1):c.3865G>A (p.Asp1289Asn)	rs137854500	0.00001
NM_005506.4(SCARB2):c.1187+2dup	rs727502783	0.00001
NM_005518.4(HMGCS2):c.1499G>A (p.Arg500His)	rs137852639	0.00001
NM_005518.4(HMGCS2):c.160G>A (p.Val54Met)	rs28937320	0.00001
NM_005534.4(IFNGR2):c.1A>G (p.Met1Val)	rs1316638883	0.00001
NM_005546.4(ITK):c.86G>A (p.Arg29His)	rs397514261	0.00001
NM_005585.5(SMAD6):c.1244C>T (p.Pro415Leu)	rs387907284	0.00001
NM_005591.4(MRE11):c.140C>T (p.Ala47Val)	rs730880378	0.00001
NM_005591.4(MRE11):c.350A>G (p.Asn117Ser)	rs137852760	0.00001
NM_005609.4(PYGM):c.152A>G (p.Asp51Gly)	rs397514631	0.00001
NM_005609.4(PYGM):c.1628A>C (p.Lys543Thr)	rs119103252	0.00001
NM_005609.4(PYGM):c.1726C>T (p.Arg576Ter)	rs119103255	0.00001
NM_005609.4(PYGM):c.1827G>A (p.Lys609=)	rs119103259	0.00001
NM_005609.4(PYGM):c.1963G>A (p.Glu655Lys)	rs119103253	0.00001
NM_005609.4(PYGM):c.1996C>G (p.Gln666Glu)	rs119103256	0.00001
NM_005630.3(SLCO2A1):c.1807C>T (p.Arg603Ter)	rs776813259	0.00001
NM_005630.3(SLCO2A1):c.289C>T (p.Arg97Cys)	rs761212094	0.00001
NM_005670.4(EPM2A):c.322C>T (p.Arg108Cys)	rs137852915	0.00001
NM_005670.4(EPM2A):c.512G>A (p.Arg171His)	rs137852916	0.00001
NM_005670.4(EPM2A):c.94T>G (p.Trp32Gly)	rs104893955	0.00001
NM_005751.5(AKAP9):c.4709C>T (p.Ser1570Leu)	rs121908566	0.00001
NM_005787.6(ALG3):c.165C>T (p.Gly55=)	rs387906273	0.00001
NM_005896.4(IDH1):c.395G>A (p.Arg132His)	rs121913500	0.00001
NM_005908.4(MANBA):c.960+1G>A	rs890870104	0.00001
NM_005912.3(MC4R):c.821A>G (p.Asn274Ser)	rs121913561	0.00001
NM_005957.5(MTHFR):c.968T>C (p.Leu323Pro)	rs121434297	0.00001
NM_005957.5(MTHFR):c.971A>G (p.Asn324Ser)	rs267606887	0.00001
NM_005993.5(TBCD):c.2314C>T (p.Arg772Cys)	rs181969865	0.00001
NM_005993.5(TBCD):c.686T>G (p.Leu229Arg)	rs778417127	0.00001
NM_006000.3(TUBA4A):c.1147G>A (p.Ala383Thr)	rs368743618	0.00001
NM_006031.6(PCNT):c.3465-1G>A	rs755084205	0.00001
NM_006031.6(PCNT):c.5767C>T (p.Arg1923Ter)	rs119479062	0.00001
NM_006147.4(IRF6):c.134G>A (p.Arg45Gln)	rs121434229	0.00001
NM_006214.4(PHYH):c.610G>A (p.Gly204Ser)	rs104894173	0.00001
NM_006214.4(PHYH):c.824G>A (p.Arg275Gln)	rs104894174	0.00001
NM_006254.4(PRKCD):c.1840C>T (p.Arg614Trp)	rs606231297	0.00001
NM_006267.5(RANBP2):c.1754C>T (p.Thr585Met)	rs121434502	0.00001
NM_006279.5(ST3GAL3):c.1046C>T (p.Thr349Met)	rs1201878175	0.00001
NM_006295.3(VARS1):c.3355C>T (p.Arg1119Cys)	rs149378938	0.00001
NM_006303.4(AIMP2):c.105C>A (p.Tyr35Ter)	rs529613640	0.00001
NM_006348.5(COG5):c.2231C>T (p.Pro744Leu)	rs1135401817	0.00001
NM_006363.6(SEC23B):c.1588C>T (p.Arg530Trp)	rs121918223	0.00001
NM_006397.3(RNASEH2A):c.69G>A (p.Val23=)	rs397515480	0.00001
NM_006412.4(AGPAT2):c.493-1G>C	rs606231168	0.00001
NM_006415.4(SPTLC1):c.431T>A (p.Val144Asp)	rs119482083	0.00001
NM_006424.3(SLC34A2):c.316G>C (p.Gly106Arg)	rs137853142	0.00001
NM_006432.5(NPC2):c.115G>A (p.Val39Met)	rs80358261	0.00001
NM_006432.5(NPC2):c.358C>T (p.Pro120Ser)	rs104894458	0.00001
NM_006439.5(MAB21L2):c.740G>A (p.Arg247Gln)	rs587777514	0.00001
NM_006459.4(ERLIN1):c.763C>T (p.Arg255Ter)	rs876657413	0.00001
NM_006493.4(CLN5):c.188G>A (p.Arg63His)	rs104894386	0.00001
NM_006493.4(CLN5):c.688G>A (p.Asp230Asn)	rs28940280	0.00001
NM_006493.4(CLN5):c.974A>G (p.Tyr325Cys)	rs148862100	0.00001
NM_006502.3(POLH):c.1766A>C (p.Lys589Thr)	rs121908565	0.00001
NM_006567.5(FARS2):c.1172A>T (p.Asp391Val)	rs397514612	0.00001
NM_006567.5(FARS2):c.1255C>T (p.Arg419Cys)	rs775690041	0.00001
NM_006567.5(FARS2):c.986T>C (p.Ile329Thr)	rs397514611	0.00001
NM_006580.4(CLDN16):c.206C>T (p.Ala69Val)	rs765256758	0.00001
NM_006613.4(GRAP):c.311A>T (p.Gln104Leu)	rs370564476	0.00001
NM_006623.4(PHGDH):c.1273G>A (p.Val425Met)	rs121907988	0.00001
NM_006623.4(PHGDH):c.487C>T (p.Arg163Trp)	rs772067625	0.00001
NM_006736.6(DNAJB2):c.14A>G (p.Tyr5Cys)	rs730882140	0.00001
NM_006767.4(LZTR1):c.365C>T (p.Ser122Leu)	rs587777177	0.00001
NM_006767.4(LZTR1):c.850C>T (p.Arg284Cys)	rs797045165	0.00001
NM_006859.4(LIAS):c.542A>T (p.Asp181Val)	rs1553934355	0.00001
NM_006859.4(LIAS):c.645T>A (p.Asp215Glu)	rs869312808	0.00001
NM_006859.4(LIAS):c.746G>A (p.Arg249His)	rs144133667	0.00001
NM_006892.4(DNMT3B):c.1807G>A (p.Ala603Thr)	rs121908943	0.00001
NM_006892.4(DNMT3B):c.2421-11G>A	rs547940069	0.00001
NM_006892.4(DNMT3B):c.2519G>A (p.Arg840Gln)	rs121908946	0.00001
NM_006996.3(SLC19A2):c.152C>T (p.Pro51Leu)	rs121908540	0.00001
NM_006996.3(SLC19A2):c.515G>A (p.Gly172Asp)	rs28937595	0.00001
NM_007055.4(POLR3A):c.1048+5G>T	rs890755853	0.00001
NM_007055.4(POLR3A):c.2005C>T (p.Arg669Ter)	rs774007232	0.00001
NM_007055.4(POLR3A):c.2015G>A (p.Gly672Glu)	rs267608670	0.00001
NM_007055.4(POLR3A):c.3337-5T>A	rs368905417	0.00001
NM_007215.4(POLG2):c.544C>T (p.Arg182Trp)	rs886037843	0.00001
NM_007255.3(B4GALT7):c.641G>A (p.Cys214Tyr)	rs753594601	0.00001
NM_007259.5(VPS45):c.712G>A (p.Glu238Lys)	rs782269909	0.00001
NM_007294.4(BRCA1):c.190T>G (p.Cys64Gly)	rs80357064	0.00001
NM_007294.4(BRCA1):c.5096G>A (p.Arg1699Gln)	rs41293459	0.00001
NM_007294.4(BRCA1):c.5207T>C (p.Val1736Ala)	rs45553935	0.00001
NM_007294.4(BRCA1):c.5324T>G (p.Met1775Arg)	rs41293463	0.00001
NM_007373.4(SHOC2):c.4A>G (p.Ser2Gly)	rs267607048	0.00001
NM_007375.4(TARDBP):c.1009A>G (p.Met337Val)	rs80356730	0.00001
NM_012145.4(DTYMK):c.242C>T (p.Pro81Leu)	rs1267106442	0.00001
NM_012203.2(GRHPR):c.904C>T (p.Arg302Cys)	rs180177322	0.00001
NM_012213.3(MLYCD):c.8G>A (p.Gly3Asp)	rs121908081	0.00001
NM_012243.3(SLC35A3):c.73C>T (p.Arg25Cys)	rs753997682	0.00001
NM_012250.6(RRAS2):c.208G>A (p.Ala70Thr)	rs782457908	0.00001
NM_012268.4(PLD3):c.923T>C (p.Leu308Pro)	rs537053537	0.00001
NM_012275.3(IL36RN):c.28C>T (p.Arg10Ter)	rs397514630	0.00001
NM_012275.3(IL36RN):c.304C>T (p.Arg102Trp)	rs199932303	0.00001
NM_012338.4(TSPAN12):c.146C>T (p.Thr49Met)	rs538591733	0.00001
NM_012414.4(RAB3GAP2):c.1276C>T (p.Arg426Cys)	rs587777167	0.00001
NM_012472.6(DNAAF11):c.220G>C (p.Ala74Pro)	rs397514596	0.00001
NM_013242.3(CFAP20):c.164+1G>A	rs767928662	0.00001
NM_013242.3(CFAP20):c.257A>G (p.Tyr86Cys)	rs1377392375	0.00001
NM_013242.3(CFAP20):c.305G>A (p.Arg102His)	rs1487548809	0.00001
NM_013242.3(CFAP20):c.397del (p.Gln133fs)	rs755182323	0.00001
NM_013242.3(CFAP20):c.457A>G (p.Arg153Gly)	rs2543436772	0.00001
NM_013254.4(TBK1):c.1201A>G (p.Lys401Glu)	rs756751089	0.00001
NM_013339.4(ALG6):c.680+2T>G	rs868768232	0.00001
NM_013382.7(POMT2):c.1057G>A (p.Gly353Ser)	rs267606970	0.00001
NM_013382.7(POMT2):c.1238G>C (p.Arg413Pro)	rs190285831	0.00001
NM_013432.5(TONSL):c.1480G>A (p.Glu494Lys)	rs775551492	0.00001
NM_013432.5(TONSL):c.2407C>T (p.Gln803Ter)	rs769100855	0.00001
NM_013432.5(TONSL):c.2800C>T (p.Arg934Trp)	rs755575416	0.00001
NM_014000.3(VCL):c.2923C>T (p.Arg975Trp)	rs121917776	0.00001
NM_014049.5(ACAD9):c.1594C>T (p.Arg532Trp)	rs377022708	0.00001
NM_014049.5(ACAD9):c.509C>T (p.Ala170Val)	rs762521317	0.00001
NM_014140.4(SMARCAL1):c.1756C>T (p.Arg586Trp)	rs119473038	0.00001
NM_014140.4(SMARCAL1):c.1933C>T (p.Arg645Cys)	rs119473037	0.00001
NM_014171.6(CRIPT):c.8G>A (p.Cys3Tyr)	rs757078301	0.00001
NM_014236.4(GNPAT):c.631C>T (p.Arg211Cys)	rs121434440	0.00001
NM_014239.4(EIF2B2):c.547C>T (p.Arg183Ter)	rs104894427	0.00001
NM_014239.4(EIF2B2):c.947T>A (p.Val316Asp)	rs104894426	0.00001
NM_014249.4(NR2E3):c.166G>A (p.Gly56Arg)	rs121912631	0.00001
NM_014252.4(SLC25A15):c.79G>A (p.Gly27Arg)	rs104894430	0.00001
NM_014252.4(SLC25A15):c.824G>A (p.Arg275Gln)	rs104894431	0.00001
NM_014270.5(SLC7A9):c.583G>A (p.Gly195Arg)	rs121908482	0.00001
NM_014270.5(SLC7A9):c.605-3C>A	rs749913021	0.00001
NM_014317.5(PDSS1):c.661C>T (p.Arg221Ter)	rs767499454	0.00001
NM_014362.4(HIBCH):c.196C>T (p.Arg66Trp)	rs757976755	0.00001
NM_014362.4(HIBCH):c.365A>G (p.Tyr122Cys)	rs121918329	0.00001
NM_014384.3(ACAD8):c.988C>T (p.Arg330Trp)	rs121908420	0.00001
NM_014396.4(VPS41):c.853T>C (p.Ser285Pro)	rs544223875	0.00001
NM_014402.5(UQCRQ):c.134C>T (p.Ser45Phe)	rs11544803	0.00001
NM_014625.4(NPHS2):c.871C>T (p.Arg291Trp)	rs74315348	0.00001
NM_014672.4(PRORP):c.1159A>G (p.Thr387Ala)	rs759407337	0.00001
NM_014712.3(SETD1A):c.2737C>T (p.Arg913Cys)	rs2056165149	0.00001
NM_014712.3(SETD1A):c.4582-2_4582-1del	rs755127868	0.00001
NM_014738.6(TMEM94):c.2734C>T (p.Arg912Ter)	rs557746506	0.00001
NM_014762.4(DHCR24):c.281G>A (p.Arg94His)	rs387906939	0.00001
NM_014762.4(DHCR24):c.571G>A (p.Glu191Lys)	rs119475041	0.00001
NM_014780.5(CUL7):c.4391A>C (p.His1464Pro)	rs121918229	0.00001
NM_014797.3(ZBTB24):c.1369C>T (p.Arg457Ter)	rs387907106	0.00001
NM_014844.5(TECPR2):c.3416del (p.Leu1139fs)	rs751970061	0.00001
NM_014845.6(FIG4):c.1043_1050del (p.Asp348fs)	rs1368013631	0.00001
NM_014845.6(FIG4):c.290-2A>T	rs587777715	0.00001
NM_014845.6(FIG4):c.547C>T (p.Arg183Ter)	rs121908288	0.00001
NM_014855.3(AP5Z1):c.616C>T (p.Arg206Trp)	rs761451474	0.00001
NM_014956.5(CEP164):c.277C>T (p.Arg93Trp)	rs387907310	0.00001
NM_015046.7(SETX):c.5929C>T (p.Leu1977Phe)	rs121434380	0.00001
NM_015046.7(SETX):c.994C>T (p.Arg332Trp)	rs29001665	0.00001
NM_015114.3(ANKLE2):c.1606C>T (p.Arg536Cys)	rs761627940	0.00001
NM_015139.3(SLC35D1):c.932G>A (p.Trp311Ter)	rs137853111	0.00001
NM_015166.4(MLC1):c.206C>T (p.Ser69Leu)	rs281875309	0.00001
NM_015166.4(MLC1):c.278C>T (p.Ser93Leu)	rs80358245	0.00001
NM_015166.4(MLC1):c.839C>T (p.Ser280Leu)	rs121908341	0.00001
NM_015214.3(DDHD2):c.859C>T (p.Arg287Ter)	rs398122826	0.00001
NM_015231.3(NUP160):c.2305G>A (p.Glu769Lys)	rs775637217	0.00001
NM_015231.3(NUP160):c.2626C>T (p.Arg876Ter)	rs766361033	0.00001
NM_015270.5(ADCY6):c.2975A>G (p.Tyr992Cys)	rs879253864	0.00001
NM_015294.6(TRIM37):c.326G>C (p.Cys109Ser)	rs121908391	0.00001
NM_015294.6(TRIM37):c.860G>A (p.Ser287Asn)	rs386834008	0.00001
NM_015295.3(SMCHD1):c.1580C>T (p.Thr527Met)	rs397518422	0.00001
NM_015330.6(SPECC1L):c.3247G>A (p.Gly1083Ser)	rs786201031	0.00001
NM_015340.4(LARS2):c.683G>A (p.Arg228His)	rs770440975	0.00001
NM_015450.3(POT1):c.233T>C (p.Ile78Thr)	rs947005337	0.00001
NM_015450.3(POT1):c.280C>G (p.Gln94Glu)	rs587777474	0.00001
NM_015474.4(SAMHD1):c.427C>T (p.Arg143Cys)	rs387906948	0.00001
NM_015474.4(SAMHD1):c.490C>T (p.Arg164Ter)	rs267607027	0.00001
NM_015488.5(PNKD):c.97G>C (p.Ala33Pro)	rs121434513	0.00001
NM_015509.4(NECAP1):c.142C>T (p.Arg48Ter)	rs587777420	0.00001
NM_015533.4(TKFC):c.1628G>T (p.Arg543Ile)	rs547013163	0.00001
NM_015599.3(PGM3):c.965T>C (p.Ile322Thr)	rs745508510	0.00001
NM_015665.6(AAAS):c.464G>A (p.Arg155His)	rs758440592	0.00001
NM_015702.3(MMADHC):c.748C>T (p.Arg250Ter)	rs118204048	0.00001
NM_015713.5(RRM2B):c.686G>T (p.Gly229Val)	rs121918311	0.00001
NM_015909.4(NBAS):c.2423+403G>C	rs961020996	0.00001
NM_015915.5(ATL1):c.1246C>T (p.Arg416Cys)	rs387906941	0.00001
NM_015937.6(PIGT):c.1079G>T (p.Gly360Val)	rs1277383877	0.00001
NM_015958.3(DPH5):c.779A>G (p.His260Arg)	rs746680777	0.00001
NM_015965.7(NDUFA13):c.170G>A (p.Arg57His)	rs752513525	0.00001
NM_016030.6(TRAPPC12):c.1880C>T (p.Ala627Val)	rs768950892	0.00001
NM_016035.5(COQ4):c.190C>T (p.Pro64Ser)	rs766317663	0.00001
NM_016035.5(COQ4):c.284G>A (p.Gly95Asp)	rs779568890	0.00001
NM_016042.4(EXOSC3):c.415G>C (p.Ala139Pro)	rs387907195	0.00001
NM_016042.4(EXOSC3):c.92G>C (p.Gly31Ala)	rs387907196	0.00001
NM_016097.5(IER3IP1):c.233T>C (p.Leu78Pro)	rs387907012	0.00001
NM_016123.4(IRAK4):c.34C>T (p.Arg12Cys)	rs377584435	0.00001
NM_016138.5(COQ7):c.3G>T (p.Met1Ile)	rs746489573	0.00001
NM_016146.6(TRAPPC4):c.278C>T (p.Pro93Leu)	rs1307746359	0.00001
NM_016188.5(ACTL6B):c.893G>A (p.Arg298Gln)	rs1060499738	0.00001
NM_016204.4(GDF2):c.254C>T (p.Pro85Leu)	rs199804679	0.00001
NM_016213.5(TRIP4):c.760C>T (p.Arg254Ter)	rs869312827	0.00001
NM_016219.5(MAN1B1):c.1189G>A (p.Glu397Lys)	rs387906885	0.00001
NM_016219.5(MAN1B1):c.1833_1834del (p.Asp613fs)	rs1382373816	0.00001
NM_016284.5(CNOT1):c.4432C>T (p.Arg1478Cys)	rs1567396193	0.00001
NM_016343.4(CENPF):c.9280C>T (p.Arg3094Ter)	rs869312748	0.00001
NM_016464.5(TMEM138):c.128+5G>A	rs917404097	0.00001
NM_016529.6(ATP8A2):c.1741C>T (p.Arg581Ter)	rs1304109530	0.00001
NM_016824.5(ADD3):c.1100G>A (p.Gly367Asp)	rs564185858	0.00001
NM_016938.5(EFEMP2):c.376G>A (p.Glu126Lys)	rs193302867	0.00001
NM_016955.4(SEPSECS):c.715G>A (p.Ala239Thr)	rs267607035	0.00001
NM_017534.6(MYH2):c.533C>T (p.Thr178Ile)	rs756953958	0.00001
NM_017646.6(TRIT1):c.856A>G (p.Lys286Glu)	rs1060505019	0.00001
NM_017646.6(TRIT1):c.968G>A (p.Arg323Gln)	rs1047420796	0.00001
NM_017662.5(TRPM6):c.166C>T (p.Arg56Ter)	rs121912624	0.00001
NM_017714.3(TASP1):c.701C>T (p.Thr234Met)	rs904200599	0.00001
NM_017807.4(OSGEP):c.332T>C (p.Ile111Thr)	rs1443735811	0.00001
NM_017825.3(ADPRS):c.530C>T (p.Ser177Leu)	rs200626873	0.00001
NM_017827.4(SARS2):c.1205G>A (p.Arg402His)	rs370842354	0.00001
NM_017831.4(RNF125):c.488C>T (p.Ser163Leu)	rs373764886	0.00001
NM_017909.4(RMND1):c.613G>T (p.Asp205Tyr)	rs606231472	0.00001
NM_017934.7(PHIP):c.2902C>T (p.Arg968Ter)	rs200788163	0.00001
NM_017947.4(MOCOS):c.2326C>T (p.Arg776Cys)	rs750896617	0.00001
NM_018026.4(PACS1):c.607C>T (p.Arg203Trp)	rs398123009	0.00001
NM_018055.5(NODAL):c.891+1G>A	rs878855044	0.00001
NM_018082.6(POLR3B):c.1857-2A>C	rs267608686	0.00001
NM_018105.3(THAP1):c.266A>G (p.Lys89Arg)	rs267607111	0.00001
NM_018122.5(DARS2):c.1825C>T (p.Arg609Trp)	rs200670286	0.00001
NM_018122.5(DARS2):c.1837C>T (p.Leu613Phe)	rs121918212	0.00001
NM_018122.5(DARS2):c.1877T>A (p.Leu626Gln)	rs121918213	0.00001
NM_018129.4(PNPO):c.685C>T (p.Arg229Trp)	rs104894629	0.00001
NM_018192.4(P3H2):c.1523G>T (p.Gly508Val)	rs724159988	0.00001
NM_018245.3(OGDHL):c.895A>G (p.Arg299Gly)	rs924975413	0.00001
NM_018255.4(ELP2):c.617A>G (p.His206Arg)	rs773432002	0.00001
NM_018474.6(KIZ):c.52G>T (p.Glu18Ter)	rs587777376	0.00001
NM_018475.5(TMEM165):c.376C>T (p.Arg126Cys)	rs387907222	0.00001
NM_018486.3(HDAC8):c.932C>T (p.Thr311Met)	rs397515417	0.00001
NM_018646.6(TRPV6):c.1274G>A (p.Arg425Gln)	rs1281361203	0.00001
NM_018668.5(VPS33B):c.1225+5G>C	rs398122407	0.00001
NM_018669.6(WDR4):c.509G>A (p.Arg170Gln)	rs1292041526	0.00001
NM_018671.5(UNC45A):c.292C>T (p.Arg98Trp)	rs369103911	0.00001
NM_018676.4(THSD1):c.617G>A (p.Cys206Tyr)	rs786205669	0.00001
NM_018834.6(MATR3):c.1864A>G (p.Thr622Ala)	rs587777301	0.00001
NM_018834.6(MATR3):c.344T>G (p.Phe115Cys)	rs587777300	0.00001
NM_018941.4(CLN8):c.610C>T (p.Arg204Cys)	rs104894060	0.00001
NM_018946.4(NANS):c.709C>T (p.Arg237Cys)	rs878852982	0.00001
NM_018965.4(TREM2):c.132G>A (p.Trp44Ter)	rs104894001	0.00001
NM_018965.4(TREM2):c.233G>A (p.Trp78Ter)	rs104893998	0.00001
NM_018972.4(GDAP1):c.358C>T (p.Arg120Trp)	rs104894078	0.00001
NM_018972.4(GDAP1):c.581C>G (p.Ser194Ter)	rs104894075	0.00001
NM_019023.5(PRMT7):c.1159A>G (p.Arg387Gly)	rs762515973	0.00001
NM_019042.5(PUS7):c.1160C>T (p.Thr387Met)	rs916775904	0.00001
NM_019616.4(F7):c.1043G>T (p.Cys348Phe)	rs121964927	0.00001
NM_019616.4(F7):c.1158T>G (p.His386Gln)	rs121964936	0.00001
NM_019892.6(INPP5E):c.1543C>T (p.Arg515Trp)	rs13297509	0.00001
NM_019892.6(INPP5E):c.1688G>A (p.Arg563His)	rs121918128	0.00001
NM_020070.4(IGLL1):c.64C>T (p.Gln22Ter)	rs74315491	0.00001
NM_020166.5(MCCC1):c.2079del (p.Thr693_Val694insTer)	rs119103217	0.00001
NM_020247.5(COQ8A):c.637C>T (p.Arg213Trp)	rs119468005	0.00001
NM_020374.4(FERRY3):c.1360C>T (p.Arg454Ter)	rs749969789	0.00001
NM_020401.4(NUP107):c.303G>A (p.Met101Ile)	rs730882216	0.00001
NM_020435.4(GJC2):c.268C>T (p.Pro90Ser)	rs74315312	0.00001
NM_020442.6(VARS2):c.1400G>A (p.Arg467His)	rs775439829	0.00001
NM_020458.4(TTC7A):c.1616C>T (p.Ser539Leu)	rs776906926	0.00001
NM_020458.4(TTC7A):c.2468T>C (p.Leu823Pro)	rs587776972	0.00001
NM_020458.4(TTC7A):c.2494G>A (p.Ala832Thr)	rs876657393	0.00001
NM_020458.4(TTC7A):c.2515G>A (p.Ala839Thr)	rs202044972	0.00001
NM_020533.3(MCOLN1):c.1207C>T (p.Arg403Cys)	rs121908374	0.00001
NM_020533.3(MCOLN1):c.964C>T (p.Arg322Ter)	rs121908371	0.00001
NM_020549.5(CHAT):c.1258C>T (p.Arg420Cys)	rs121912822	0.00001
NM_020549.5(CHAT):c.1321G>A (p.Glu441Lys)	rs121912816	0.00001
NM_020549.5(CHAT):c.1516G>T (p.Val506Leu)	rs121912817	0.00001
NM_020549.5(CHAT):c.1679G>A (p.Arg560His)	rs121912819	0.00001
NM_020632.3(ATP6V0A4):c.1691+1G>A	rs587776615	0.00001
NM_020632.3(ATP6V0A4):c.2420G>A (p.Arg807Gln)	rs28939081	0.00001
NM_020686.6(ABAT):c.1129C>T (p.Arg377Trp)	rs1330995774	0.00001
NM_020686.6(ABAT):c.275G>A (p.Arg92Gln)	rs724159992	0.00001
NM_020762.4(SRGAP1):c.447A>C (p.Gln149His)	rs781626187	0.00001
NM_020779.4(WDR35):c.1468del (p.Gln490fs)	rs886044119	0.00001
NM_020800.3(IFT80):c.2048G>T (p.Gly683Val)	rs1302753011	0.00001
NM_020877.5(DNAH2):c.5770C>T (p.Arg1924Cys)	rs773343805	0.00001
NM_020944.3(GBA2):c.700C>T (p.Arg234Ter)	rs398123013	0.00001
NM_020964.3(EPG5):c.7447C>T (p.Arg2483Ter)	rs863225064	0.00001
NM_021008.4(DEAF1):c.716A>G (p.Glu239Gly)	rs1064795812	0.00001
NM_021067.5(GINS1):c.455G>A (p.Cys152Tyr)	rs376610445	0.00001
NM_021098.3(CACNA1H):c.844G>A (p.Glu282Lys)	rs119454948	0.00001
NM_021175.4(HAMP):c.-25G>A	rs944843686	0.00001
NM_021267.5(CERS1):c.763C>T (p.Arg255Cys)	rs1375601977	0.00001
NM_021615.5(CHST6):c.827T>C (p.Leu276Pro)	rs121917824	0.00001
NM_021625.5(TRPV4):c.943C>T (p.Arg315Trp)	rs267607143	0.00001
NM_021828.5(HPSE2):c.1516C>T (p.Arg506Ter)	rs267606866	0.00001
NM_021828.5(HPSE2):c.457C>T (p.Arg153Ter)	rs267606865	0.00001
NM_021830.5(TWNK):c.1120C>T (p.Arg374Trp)	rs267606682	0.00001
NM_021831.6(AGBL5):c.826C>T (p.Arg276Trp)	rs879253769	0.00001
NM_021870.2(FGG):c.902G>A (p.Arg301His)	rs121913088	0.00001
NM_021871.4(FGA):c.1634A>T (p.Glu545Val)	rs121909612	0.00001
NM_021922.3(FANCE):c.1114-8G>A	rs878854342	0.00001
NM_021922.3(FANCE):c.421C>T (p.Arg141Ter)	rs121434506	0.00001
NM_021939.4(FKBP10):c.337G>A (p.Glu113Lys)	rs397514674	0.00001
NM_021939.4(FKBP10):c.344G>A (p.Arg115Gln)	rs387906960	0.00001
NM_021942.6(TRAPPC11):c.2938G>A (p.Gly980Arg)	rs397509417	0.00001
NM_021942.6(TRAPPC11):c.751T>C (p.Tyr251His)	rs773950166	0.00001
NM_021969.3(NR0B2):c.583G>T (p.Ala195Ser)	rs74315350	0.00001
NM_022041.4(GAN):c.1447C>T (p.Gln483Ter)	rs119485089	0.00001
NM_022041.4(GAN):c.1456G>A (p.Glu486Lys)	rs119485088	0.00001
NM_022041.4(GAN):c.601C>T (p.Arg201Ter)	rs119485090	0.00001
NM_022132.5(MCCC2):c.464G>A (p.Arg155Gln)	rs119103220	0.00001
NM_022132.5(MCCC2):c.499T>C (p.Cys167Arg)	rs119103222	0.00001
NM_022132.5(MCCC2):c.838G>T (p.Asp280Tyr)	rs119103226	0.00001
NM_022336.4(EDAR):c.266G>A (p.Arg89His)	rs121908450	0.00001
NM_022370.4(ROBO3):c.733C>T (p.Arg245Trp)	rs121918277	0.00001
NM_022436.3(ABCG5):c.1222C>T (p.Arg408Ter)	rs119479065	0.00001
NM_022445.4(TPK1):c.479C>T (p.Ser160Leu)	rs758949475	0.00001
NM_022445.4(TPK1):c.656A>G (p.Asn219Ser)	rs371271054	0.00001
NM_022464.5(SIL1):c.645+2T>C	rs548535414	0.00001
NM_022489.4(INF2):c.641G>A (p.Arg214His)	rs267606879	0.00001
NM_022787.4(NMNAT1):c.53A>G (p.Asn18Ser)	rs748902766	0.00001
NM_022916.6(VPS33A):c.1492C>T (p.Arg498Trp)	rs767748011	0.00001
NM_023067.4(FOXL2):c.560G>A (p.Gly187Asp)	rs121908359	0.00001
NM_023077.3(COA7):c.17A>G (p.Asp6Gly)	rs780572767	0.00001
NM_024057.4(NUP37):c.916C>T (p.Arg306Ter)	rs746341112	0.00001
NM_024063.3(AFG2B):c.2066G>T (p.Gly689Val)	rs777812455	0.00001
NM_024101.7(MLPH):c.103C>T (p.Arg35Trp)	rs119473031	0.00001
NM_024105.4(ALG12):c.301G>A (p.Gly101Arg)	rs121907933	0.00001
NM_024120.5(NDUFAF5):c.155A>C (p.Lys52Thr)	rs531254130	0.00001
NM_024120.5(NDUFAF5):c.686T>C (p.Leu229Pro)	rs118203929	0.00001
NM_024120.5(NDUFAF5):c.749G>T (p.Gly250Val)	rs757043077	0.00001
NM_024301.5(FKRP):c.1343C>T (p.Pro448Leu)	rs104894681	0.00001
NM_024301.5(FKRP):c.919T>A (p.Tyr307Asn)	rs104894692	0.00001
NM_024301.5(FKRP):c.926A>G (p.Tyr309Cys)	rs104894679	0.00001
NM_024306.5(FA2H):c.460C>T (p.Arg154Cys)	rs387907040	0.00001
NM_024306.5(FA2H):c.703C>T (p.Arg235Cys)	rs387907039	0.00001
NM_024339.5(THOC6):c.136G>A (p.Gly46Arg)	rs587777030	0.00001
NM_024411.5(PDYN):c.634C>T (p.Arg212Trp)	rs201486601	0.00001
NM_024422.6(DSC2):c.631-2A>G	rs397514042	0.00001
NM_024494.3(WNT2B):c.205C>T (p.Arg69Ter)	rs370244148	0.00001
NM_024514.5(CYP2R1):c.367+1G>A	rs202011621	0.00001
NM_024537.4(CARS2):c.649_651del (p.Glu217del)	rs753472937	0.00001
NM_024537.4(CARS2):c.655G>A (p.Ala219Thr)	rs727505361	0.00001
NM_024537.4(CARS2):c.752C>T (p.Pro251Leu)	rs557671802	0.00001
NM_024580.6(EFL1):c.379A>G (p.Thr127Ala)	rs1441937959	0.00001
NM_024593.4(CLXN):c.292C>T (p.Arg98Ter)	rs751867551	0.00001
NM_024596.5(MCPH1):c.215C>T (p.Ser72Leu)	rs387906961	0.00001
NM_024649.5(BBS1):c.1553T>C (p.Leu518Pro)	rs121917778	0.00001
NM_024675.4(PALB2):c.1653T>A (p.Tyr551Ter)	rs118203997	0.00001
NM_024678.6(NARS2):c.500A>G (p.His167Arg)	rs750594551	0.00001
NM_024700.4(SNIP1):c.1097A>G (p.Glu366Gly)	rs387906986	0.00001
NM_024747.6(HPS6):c.1234C>T (p.Gln412Ter)	rs281865112	0.00001
NM_024782.3(NHEJ1):c.169C>G (p.Arg57Gly)	rs118204451	0.00001
NM_024817.3(THSD4):c.2341C>T (p.Arg781Trp)	rs767807136	0.00001
NM_024818.6(UBA5):c.169A>G (p.Met57Val)	rs532178791	0.00001
NM_024884.3(L2HGDH):c.1003C>T (p.Arg335Ter)	rs387907013	0.00001
NM_024884.3(L2HGDH):c.905C>T (p.Pro302Leu)	rs118204020	0.00001
NM_024996.7(GFM1):c.748C>T (p.Arg250Trp)	rs139430866	0.00001
NM_025077.4(TOE1):c.307G>A (p.Ala103Thr)	rs371848318	0.00001
NM_025077.4(TOE1):c.518T>G (p.Val173Gly)	rs777030573	0.00001
NM_025099.6(CTC1):c.2518C>T (p.Arg840Trp)	rs373905859	0.00001
NM_025099.6(CTC1):c.775G>A (p.Val259Met)	rs387907080	0.00001
NM_025103.4(IFT74):c.85C>T (p.Arg29Ter)	rs751583919	0.00001
NM_025150.5(TARS2):c.1838C>T (p.Pro613Leu)	rs767519084	0.00001
NM_025150.5(TARS2):c.387+6T>C	rs1064797119	0.00001
NM_025150.5(TARS2):c.695+3A>G	rs587777594	0.00001
NM_025152.3(NUBPL):c.693+1G>A	rs751631278	0.00001
NM_025215.6(PUS1):c.883C>T (p.Arg295Trp)	rs869025309	0.00001
NM_025233.7(COASY):c.1486-3C>G	rs577714887	0.00001
NM_025233.7(COASY):c.641C>T (p.Ala214Val)	rs1567904066	0.00001
NM_030777.4(SLC2A10):c.243C>G (p.Ser81Arg)	rs80358230	0.00001
NM_030940.4(ISCA1):c.259G>A (p.Glu87Lys)	rs776679653	0.00001
NM_031307.4(PUS3):c.1303C>T (p.Arg435Ter)	rs774005569	0.00001
NM_031433.4(MFRP):c.1549C>T (p.Arg517Trp)	rs730882144	0.00001
NM_031448.6(C19orf12):c.172G>A (p.Gly58Arg)	rs515726205	0.00001
NM_031448.6(C19orf12):c.215C>T (p.Pro72Leu)	rs201987973	0.00001
NM_031471.6(FERMT3):c.1717C>T (p.Arg573Ter)	rs121918297	0.00001
NM_031885.5(BBS2):c.224T>G (p.Val75Gly)	rs121908174	0.00001
NM_031942.5(CDCA7):c.1148G>A (p.Arg383His)	rs772929976	0.00001
NM_032520.5(GNPTG):c.316G>A (p.Gly106Ser)	rs137852885	0.00001
NM_032539.5(SLITRK2):c.934A>G (p.Thr312Ala)	rs782072593	0.00001
NM_032551.5(KISS1R):c.305T>C (p.Leu102Pro)	rs104894703	0.00001
NM_032551.5(KISS1R):c.937T>C (p.Tyr313His)	rs587777844	0.00001
NM_032607.3(CREB3L3):c.138G>A (p.Trp46Ter)	rs912378886	0.00001
NM_032634.4(PIGO):c.2869C>T (p.Leu957Phe)	rs142164373	0.00001
NM_032756.4(HPDL):c.94C>T (p.Gln32Ter)	rs752764598	0.00001
NM_032806.6(POMGNT2):c.473G>A (p.Arg158His)	rs387907300	0.00001
NM_032861.4(SERAC1):c.1577G>A (p.Gly526Glu)	rs1554261079	0.00001
NM_032861.4(SERAC1):c.442C>T (p.Arg148Ter)	rs387907236	0.00001
NM_032930.3(CFAP300):c.776A>G (p.His259Arg)	rs1555071691	0.00001
NM_033004.4(NLRP1):c.2176C>T (p.Arg726Trp)	rs776245016	0.00001
NM_033028.5(BBS4):c.1091C>A (p.Ala364Glu)	rs28938468	0.00001
NM_033159.4(HYAL1):c.802G>A (p.Glu268Lys)	rs104893743	0.00001
NM_033198.4(PIGS):c.108G>A (p.Trp36Ter)	rs1263517814	0.00001
NM_033343.4(LHX4):c.250C>T (p.Arg84Cys)	rs121912642	0.00001
NM_033409.4(SLC52A3):c.106G>A (p.Glu36Lys)	rs267606686	0.00001
NM_033409.4(SLC52A3):c.394C>T (p.Arg132Trp)	rs267606684	0.00001
NM_033440.3(CELA2A):c.253C>A (p.Leu85Met)	rs558493952	0.00001
NM_052813.5(CARD9):c.214G>A (p.Gly72Ser)	rs398122362	0.00001
NM_052813.5(CARD9):c.865C>T (p.Gln289Ter)	rs398122363	0.00001
NM_052844.4(DYNC2I2):c.1061C>T (p.Thr354Met)	rs587777092	0.00001
NM_052844.4(DYNC2I2):c.1177G>A (p.Gly393Ser)	rs587777096	0.00001
NM_052845.4(MMAB):c.584G>A (p.Arg195His)	rs756195708	0.00001
NM_052865.4(MGME1):c.456G>A (p.Trp152Ter)	rs587776943	0.00001
NM_052965.4(TSEN15):c.346C>T (p.His116Tyr)	rs879253780	0.00001
NM_052989.3(IFT122):c.1483G>A (p.Gly495Arg)	rs397515568	0.00001
NM_054012.4(ASS1):c.256C>T (p.Arg86Cys)	rs121908644	0.00001
NM_054012.4(ASS1):c.40G>A (p.Gly14Ser)	rs121908636	0.00001
NM_054012.4(ASS1):c.53C>T (p.Ser18Leu)	rs121908643	0.00001
NM_054012.4(ASS1):c.835C>T (p.Arg279Ter)	rs121908645	0.00001
NM_054012.4(ASS1):c.928A>C (p.Lys310Gln)	rs121908648	0.00001
NM_054012.4(ASS1):c.970+5G>A	rs372128852	0.00001
NM_057175.5(NAA15):c.239_240del (p.His80fs)	rs779009256	0.00001
NM_058004.4(PI4KA):c.3454G>A (p.Glu1152Lys)	rs1351749039	0.00001
NM_058216.3(RAD51C):c.414G>C (p.Leu138Phe)	rs267606999	0.00001
NM_058216.3(RAD51C):c.904+5G>T	rs587782702	0.00001
NM_080675.4(SUN5):c.1066C>T (p.Arg356Cys)	rs754130052	0.00001
NM_130468.4(CHST14):c.638G>C (p.Arg213Pro)	rs121908257	0.00001
NM_133259.4(LRPPRC):c.1582+7A>G	rs863225446	0.00001
NM_133638.6(ADAMTS19):c.3538C>T (p.Arg1180Ter)	rs186986653	0.00001
NM_138295.5(PKD1L1):c.5072G>C (p.Cys1691Ser)	rs886037834	0.00001
NM_138376.3(TTC5):c.787C>T (p.Arg263Ter)	rs199831317	0.00001
NM_138413.4(HOGA1):c.209G>C (p.Arg70Pro)	rs267606763	0.00001
NM_138422.4(ADAT3):c.430G>A (p.Val144Met)	rs730882213	0.00001
NM_138694.4(PKHD1):c.5221G>A (p.Val1741Met)	rs137852946	0.00001
NM_139027.6(ADAMTS13):c.1584+5G>A	rs782235228	0.00001
NM_139343.3(BIN1):c.700C>T (p.Arg234Cys)	rs777176261	0.00001
NM_144666.3(DNHD1):c.5560C>T (p.Arg1854Cys)	rs1035842147	0.00001
NM_144666.3(DNHD1):c.911G>A (p.Arg304Gln)	rs369544858	0.00001
NM_144773.4(PROKR2):c.343G>A (p.Val115Met)	rs138672528	0.00001
NM_144773.4(PROKR2):c.629A>G (p.Gln210Arg)	rs74315417	0.00001
NM_145020.5(CFAP53):c.472A>G (p.Arg158Gly)	rs886037751	0.00001
NM_145199.3(LIPT1):c.212C>T (p.Ser71Phe)	rs767568897	0.00001
NM_147196.3(TMIE):c.250C>T (p.Arg84Trp)	rs28942097	0.00001
NM_152268.4(PARS2):c.239T>C (p.Ile80Thr)	rs1246773873	0.00001
NM_152268.4(PARS2):c.836C>T (p.Ser279Leu)	rs730882153	0.00001
NM_152328.5(ADSS1):c.769G>A (p.Ala257Thr)	rs753588351	0.00001
NM_152383.5(DIS3L2):c.2394+5G>A	rs1489037110	0.00001
NM_152384.3(BBS5):c.214G>A (p.Gly72Ser)	rs121908581	0.00001
NM_152393.4(KLHL40):c.1582G>A (p.Glu528Lys)	rs397509419	0.00001
NM_152419.3(HGSNAT):c.1030C>T (p.Arg344Cys)	rs121908285	0.00001
NM_152419.3(HGSNAT):c.1445T>A (p.Met482Lys)	rs121908284	0.00001
NM_152443.3(RDH12):c.377C>T (p.Ala126Val)	rs202126574	0.00001
NM_152443.3(RDH12):c.464C>T (p.Thr155Ile)	rs121434337	0.00001
NM_152443.3(RDH12):c.677A>G (p.Tyr226Cys)	rs28940313	0.00001
NM_152490.5(B3GALNT2):c.740G>A (p.Gly247Glu)	rs367543072	0.00001
NM_152490.5(B3GALNT2):c.802G>A (p.Val268Met)	rs367543074	0.00001
NM_152513.4(MEI1):c.3452G>A (p.Trp1151Ter)	rs749779829	0.00001
NM_152618.3(BBS12):c.865G>C (p.Ala289Pro)	rs121918328	0.00001
NM_152906.7(TANGO2):c.460G>A (p.Gly154Arg)	rs752298579	0.00001
NM_152906.7(TANGO2):c.711-3C>G	rs367912276	0.00001
NM_153033.5(KCTD7):c.280C>T (p.Arg94Trp)	rs387907260	0.00001
NM_153033.5(KCTD7):c.533C>T (p.Ala178Val)	rs368001837	0.00001
NM_153033.5(KCTD7):c.550C>T (p.Arg184Cys)	rs387907246	0.00001
NM_153218.4(LACC1):c.988_990del (p.Ile330del)	rs776489319	0.00001
NM_153603.4(COG7):c.170-7A>G	rs1555496968	0.00001
NM_153717.3(EVC):c.919T>C (p.Ser307Pro)	rs121908426	0.00001
NM_153747.2(PIGC):c.635T>C (p.Leu212Pro)	rs1553259602	0.00001
NM_153766.3(KCNJ1):c.443G>A (p.Gly148Glu)	rs104894254	0.00001
NM_153766.3(KCNJ1):c.584C>T (p.Ala195Val)	rs104894246	0.00001
NM_170707.4(LMNA):c.1444C>T (p.Arg482Trp)	rs57920071	0.00001
NM_170784.3(MKKS):c.155G>A (p.Gly52Asp)	rs28937875	0.00001
NM_170784.3(MKKS):c.169A>G (p.Thr57Ala)	rs74315399	0.00001
NM_172351.3(CD46):c.104G>A (p.Cys35Tyr)	rs121909591	0.00001
NM_172351.3(CD46):c.175C>T (p.Arg59Ter)	rs121909590	0.00001
NM_173354.5(SIK1):c.1897C>T (p.Gln633Ter)	rs786205162	0.00001
NM_174934.4(SCN4B):c.535C>T (p.Leu179Phe)	rs121434386	0.00001
NM_176787.5(PIGN):c.1434+5G>A	rs369486176	0.00001
NM_176869.3(PPA2):c.500C>T (p.Pro167Leu)	rs546693824	0.00001
NM_177398.4(LMX1A):c.1106T>C (p.Ile369Thr)	rs763320093	0.00001
NM_177550.5(SLC13A5):c.1022G>A (p.Trp341Ter)	rs150203483	0.00001
NM_177550.5(SLC13A5):c.1280C>T (p.Ser427Leu)	rs548065551	0.00001
NM_177550.5(SLC13A5):c.425C>T (p.Thr142Met)	rs761917087	0.00001
NM_177986.5(DSG4):c.87del (p.Lys30fs)	rs1325804776	0.00001
NM_178172.6(GPIHBP1):c.320C>G (p.Ser107Cys)	rs587777643	0.00001
NM_178857.6(RP1L1):c.133C>T (p.Arg45Trp)	rs267607017	0.00001
NM_181078.3(IL21R):c.602G>A (p.Arg201Gln)	rs397514685	0.00001
NM_181426.2(CCDC39):c.983T>C (p.Leu328Pro)	rs1338737312	0.00001
NM_181486.4(TBX5):c.710G>A (p.Arg237Gln)	rs104894378	0.00001
NM_181882.3(PRX):c.3208C>T (p.Arg1070Ter)	rs104894708	0.00001
NM_182548.4(LHFPL5):c.380A>G (p.Tyr127Cys)	rs104893975	0.00001
NM_182649.2(PCNA):c.683G>T (p.Ser228Ile)	rs369958038	0.00001
NM_182760.4(SUMF1):c.1045C>T (p.Arg349Trp)	rs137852846	0.00001
NM_182760.4(SUMF1):c.1046G>A (p.Arg349Gln)	rs137852847	0.00001
NM_182760.4(SUMF1):c.653G>A (p.Cys218Tyr)	rs137852854	0.00001
NM_182943.3(PLOD2):c.1856G>A (p.Arg619His)	rs121434461	0.00001
NM_194248.3(OTOF):c.5375G>A (p.Arg1792His)	rs111033349	0.00001
NM_194277.3(FRMD7):c.425T>G (p.Leu142Arg)	rs137852211	0.00001
NM_198239.2(CCN6):c.434G>A (p.Cys145Tyr)	rs121908899	0.00001
NM_198252.3(GSN):c.487G>A (p.Asp163Asn)	rs121909715	0.00001
NM_198253.3(TERT):c.2011C>T (p.Arg671Trp)	rs1060503011	0.00001
NM_198253.3(TERT):c.2080G>A (p.Val694Met)	rs121918662	0.00001
NM_198253.3(TERT):c.2431C>T (p.Arg811Cys)	rs199422301	0.00001
NM_198253.3(TERT):c.2594G>A (p.Arg865His)	rs121918666	0.00001
NM_198253.3(TERT):c.2701C>T (p.Arg901Trp)	rs199422304	0.00001
NM_198578.4(LRRK2):c.4322G>A (p.Arg1441His)	rs34995376	0.00001
NM_201525.4(ADGRG1):c.1036T>A (p.Cys346Ser)	rs121908463	0.00001
NM_203395.3(IYD):c.347T>C (p.Ile116Thr)	rs121918139	0.00001
NM_206926.2(SELENON):c.1256G>C (p.Trp419Ser)	rs121908186	0.00001
NM_207122.2(EXT2):c.1019T>A (p.Val340Asp)	rs371996957	0.00001
NM_207122.2(EXT2):c.863A>G (p.Asn288Ser)	rs745738318	0.00001
NM_207189.4(BRDT):c.2783G>A (p.Gly928Asp)	rs754258809	0.00001
NM_207352.4(CYP4V2):c.1091-2A>G	rs199476183	0.00001
NM_207352.4(CYP4V2):c.992A>C (p.His331Pro)	rs199476197	0.00001
NM_213622.4(STAMBP):c.125A>G (p.Glu42Gly)	rs397509387	0.00001
NM_213653.4(HJV):c.976C>T (p.Arg326Ter)	rs74315324	0.00001
NR_003051.4(RMRP):n.195G>A	rs761398394	0.00001
CYP2A6*3
FH Bologna 2
FH Cape Town 2
FH Vancouver 4
FIBRINOGEN DETROIT 1	rs1403508334
G6PD NARA	rs587776730
GRCh37/hg19 19p13.2(chr19:11210898-11222316)x3
HBB, HBB/HBD FUSION
HBB, HBB/HBD FUSION, HBD137DEL
Multiple alleles
NC_000001.11:g.228149857A>G	rs587777496
NC_000006.11:g.5610223_5726369del
NC_000008.11:g.11802586_11802601del	rs1563290033
NC_000011.10:g.1219991G>T	rs35705950
NC_000011.10:g.2171856C>T	rs1372180906
NC_000011.10:g.5226955_5234367dup
NC_000013.11:g.20193020G>A	rs886037626
NC_000013.11:g.48303724G>T	rs387906520
NC_000014.9:g.87925163_87956828del
NC_000015.9:g.68504037_68504039delGAT	rs121908080
NC_000016.10:g.(?_72054504)_(?_72076977)del
NC_000017.11:g.1270783_1270784delinsTT	rs886037856
NC_000018.9:g.77733765C>A	rs727502793
NC_000018.9:g.77748581_77748614del34	rs535089924
NC_000021.9:g.43063107_43063108insCCCAGCAAAAGCCCCACCTGGATGATCCACCCCAGTGATCTGCAGAGGGCGCGGCTTCAGGGCTCAAG
NC_012920.1(MT-ATP6):m.8993T>G	rs199476133
NC_012920.1(MT-CO1):m.6489C>A	rs28461189
NC_012920.1(MT-CYB):m.14846G>A	rs207459998
NC_012920.1(MT-CYB):m.15257G>A	rs41518645
NC_012920.1(MT-ND1):m.3796A>G	rs28357970
NC_012920.1(MT-ND1):m.3946G>A	rs199476123
NC_012920.1(MT-ND1):m.4171C>A	rs28616230
NC_012920.1(MT-ND1):m.4216T>C	rs1599988
NC_012920.1(MT-ND3):m.10398A>G	rs2853826
NC_012920.1(MT-ND5):m.13042G>A	rs267606898
NC_012920.1(MT-ND5):m.13708G>A	rs28359178
NC_012920.1(MT-ND6):m.14453G>A	rs199476107
NC_012920.1(MT-RNR1):m.1494C>T	rs267606619
NC_012920.1(MT-RNR1):m.1555A>G	rs267606617
NC_012920.1(MT-RNR1):m.827A>G	rs28358569
NC_012920.1(MT-RNR1):m.961T>G	rs3888511
NC_012920.1(MT-TA):m.5650G>A	rs121434457
NC_012920.1(MT-TC):m.5814T>C	rs200077222
NC_012920.1(MT-TE):m.14709T>C	rs121434453
NC_012920.1(MT-TF):m.616T>C	rs387906420
NC_012920.1(MT-TH):m.12147G>A	rs121434474
NC_012920.1(MT-TI):m.4284G>A	rs121434468
NC_012920.1(MT-TK):m.8342G>A	rs118192103
NC_012920.1(MT-TL1):m.3243A>G	rs199474657
NC_012920.1(MT-TL1):m.3302A>G	rs1603218878
NC_012920.1(MT-TN):m.5703G>A	rs199476130
NC_012920.1(MT-TN):m.5728T>C	rs199476132
NC_012920.1(MT-TQ):m.4336T>C	rs41456348
NC_012920.1(MT-TS1):m.7497G>A	rs387906419
NC_012920.1(MT-TS1):m.7512T>C	rs199474817
NC_012920.1(MT-TT):m.15923A>G	rs1556424691
NC_012920.1(MT-TV):m.1661A>G	rs1057516055
NG_009091.1(KCNE1):g.[66853A>C;66857T>C]	rs281865421
NM_000016.6(ACADM):c.1102_1105del (p.Ala369fs)	rs387906297
NM_000016.6(ACADM):c.449_452del (p.Thr150fs)	rs786204642
NM_000016.6(ACADM):c.577A>G (p.Thr193Ala)	rs121434279
NM_000016.6(ACADM):c.842G>C (p.Arg281Thr)	rs121434282
NM_000016.6(ACADM):c.999_1011dup (p.Gln338Ter)	rs1225471006
NM_000018.4(ACADVL):c.1246G>A (p.Ala416Thr)	rs118204018
NM_000018.4(ACADVL):c.343del	rs387906249
NM_000018.4(ACADVL):c.385GAG[1] (p.Glu130del)	rs387906251
NM_000018.4(ACADVL):c.890AGA[2] (p.Lys299del)	rs387906252
NM_000019.4(ACAT1):c.1032AGA[1] (p.Glu345del)	rs387906282
NM_000019.4(ACAT1):c.1138G>A (p.Ala380Thr)	rs120074140
NM_000019.4(ACAT1):c.278A>G (p.Asn93Ser)	rs120074145
NM_000020.3(ACVRL1):c.1120C>T (p.Arg374Trp)	rs28936401
NM_000020.3(ACVRL1):c.1231C>T (p.Arg411Trp)	rs121909287
NM_000020.3(ACVRL1):c.1232G>A (p.Arg411Gln)	rs121909284
NM_000020.3(ACVRL1):c.632G>A (p.Gly211Asp)	rs28936687
NM_000021.4(PSEN1):c.254T>C (p.Leu85Pro)	rs63750599
NM_000021.4(PSEN1):c.737C>A (p.Ala246Glu)	rs63750526
NM_000022.4(ADA):c.219-2A>G	rs387906267
NM_000022.4(ADA):c.698C>T (p.Thr233Ile)	rs121908729
NM_000027.4(AGA):c.102_108del (p.Thr33_Trp34insTer)	rs386833417
NM_000027.4(AGA):c.127_128insATGCGG (p.Ala42_Ala43insAspAla)	rs386833418
NM_000027.4(AGA):c.179G>A (p.Gly60Asp)	rs121964907
NM_000027.4(AGA):c.302C>T (p.Ala101Val)	rs121964908
NM_000027.4(AGA):c.336del (p.Ile112fs)	rs386833422
NM_000027.4(AGA):c.916T>C (p.Cys306Arg)	rs121964906
NM_000030.3(AGXT):c.32C>T (p.Pro11Leu)	rs34116584
NM_000033.4(ABCD1):c.1252C>T (p.Arg418Trp)	rs128624220
NM_000033.4(ABCD1):c.1390C>T (p.Arg464Ter)	rs128624221
NM_000033.4(ABCD1):c.1552C>T (p.Arg518Trp)	rs128624224
NM_000033.4(ABCD1):c.1849C>T (p.Arg617Cys)	rs4010613
NM_000033.4(ABCD1):c.1866-10G>A	rs398123108
NM_000033.4(ABCD1):c.871GAG[1] (p.Glu292del)	rs387906496
NM_000033.4(ABCD1):c.900G>A (p.Glu300=)	rs1569540743
NM_000035.4(ALDOB):c.1000-1_1006delinsTG	rs2118333206
NM_000035.4(ALDOB):c.360_363del (p.Asn120fs)	rs387906225
NM_000035.4(ALDOB):c.625-1G>A	rs1564077542
NM_000035.4(ALDOB):c.720C>A (p.Cys240Ter)	rs118204426
NM_000037.4(ANK1):c.1801-17G>A	rs786205243
NM_000038.6(APC):c.3927_3931del (p.Glu1309fs)	rs121913224
NM_000038.6(APC):c.904C>T (p.Arg302Ter)	rs137854568
NM_000039.3(APOA1):c.478G>A (p.Glu160Lys)	rs121912718
NM_000039.3(APOA1):c.664G>A (p.Glu222Lys)	rs121912717
NM_000041.4(APOE):c.460C>A (p.Arg154Ser)	rs121918393
NM_000043.6(FAS):c.695A>G (p.Tyr232Cys)	rs121913079
NM_000043.6(FAS):c.809C>T (p.Thr270Ile)	rs121913081
NM_000044.6(AR):c.2164G>A (p.Ala722Thr)	rs137852583
NM_000045.4(ARG1):c.32T>C (p.Ile11Thr)	rs28941474
NM_000045.4(ARG1):c.466-2A>G	rs1554251045
NM_000046.5(ARSB):c.1143-8T>G	rs431905496
NM_000047.3(ARSL):c.349G>A (p.Gly117Arg)	rs122460152
NM_000049.4(ASPA):c.32del (p.Ile11fs)	rs767666474
NM_000049.4(ASPA):c.454T>C (p.Cys152Arg)	rs104894548
NM_000049.4(ASPA):c.71A>G (p.Glu24Gly)	rs104894551
NM_000049.4(ASPA):c.876_879del (p.Glu293fs)	rs766720790
NM_000051.3(ATM):c.2839-579_2839-576del	rs587776552
NM_000051.4(ATM):c.7327C>T (p.Arg2443Ter)	rs121434220
NM_000051.4(ATM):c.7875_7876delinsGC (p.Asp2625_Ala2626delinsGluPro)	rs267606668
NM_000051.4(ATM):c.7967T>C (p.Leu2656Pro)	rs121434218
NM_000051.4(ATM):c.8575TCT[1] (p.Ser2860del)	rs786203976
NM_000052.7(ATP7A):c.1707+1G>A	rs1569549753
NM_000052.7(ATP7A):c.2497A>G (p.Ser833Gly)	rs2149096859
NM_000052.7(ATP7A):c.2938C>T (p.Arg980Ter)	rs72554649
NM_000052.7(ATP7A):c.3056G>A (p.Gly1019Asp)	rs72554652
NM_000052.7(ATP7A):c.3911A>G (p.Asn1304Ser)	rs151340632
NM_000052.7(ATP7A):c.408_415del (p.Asn137fs)	rs1569549587
NM_000052.7(ATP7A):c.4352del (p.Gly1451fs)	rs1569550376
NM_000052.7(ATP7A):c.601C>T (p.Arg201Ter)	rs151340633
NM_000053.4(ATP7B):c.2009_2015del (p.Ile669_Tyr670insTer)	rs779904655
NM_000053.4(ATP7B):c.2071G>A (p.Gly691Arg)	rs121908001
NM_000053.4(ATP7B):c.2297C>G (p.Thr766Arg)	rs121907997
NM_000053.4(ATP7B):c.2513del (p.Lys838fs)	rs777362050
NM_000053.4(ATP7B):c.3552dup (p.Asp1185Ter)	rs748924063
NM_000054.7(AVPR2):c.607C>T (p.Arg203Cys)	rs104894750
NM_000059.3(BRCA2):c.2808_2811del (p.Ala938Profs)	rs80359351
NM_000059.4(BRCA2):c.3901ACT[1] (p.Thr1302del)	rs80359414
NM_000059.4(BRCA2):c.7007G>A (p.Arg2336His)	rs28897743
NM_000059.4(BRCA2):c.8165C>G (p.Thr2722Arg)	rs80359062
NM_000061.3(BTK):c.1773C>A (p.Tyr591Ter)	rs128621207
NM_000061.3(BTK):c.1838G>A (p.Gly613Asp)	rs128621209
NM_000062.3(SERPING1):c.1394C>T (p.Ala465Val)	rs121907950
NM_000063.6(C2):c.841_849+19del	rs9332736
NM_000064.4(C3):c.3343G>A (p.Asp1115Asn)	rs121909585
NM_000069.3(CACNA1S):c.2627T>A (p.Val876Glu)	rs267606698
NM_000069.3(CACNA1S):c.3257G>A (p.Arg1086His)	rs1800559
NM_000070.3(CAPN3):c.550del (p.Thr184fs)	rs80338800
NM_000071.3(CBS):c.1265C>T (p.Pro422Leu)	rs28934892
NM_000073.3(CD3G):c.1A>G (p.Met1Val)	rs104894199
NM_000074.3(CD40LG):c.107T>A (p.Met36Lys)	rs104894774
NM_000074.3(CD40LG):c.107T>G (p.Met36Arg)	rs104894774
NM_000074.3(CD40LG):c.349_409+2del	rs2148552900
NM_000075.4(CDK4):c.70C>T (p.Arg24Cys)	rs11547328
NM_000077.5(CDKN2A):c.-16GGCGGCGGGGAGCAGCATGGAGCC[3] (p.Ala4_Pro11dup)	rs587780668
NM_000077.5(CDKN2A):c.167G>T (p.Ser56Ile)	rs104894109
NM_000077.5(CDKN2A):c.176T>G (p.Val59Gly)	rs104894099
NM_000077.5(CDKN2A):c.301G>T (p.Gly101Trp)	rs104894094
NM_000077.5(CDKN2A):c.377T>A (p.Val126Asp)	rs104894098
NM_000079.4(CHRNA1):c.517G>A (p.Gly173Ser)	rs137852801
NM_000079.4(CHRNA1):c.686G>T (p.Arg229Leu)	rs137852809
NM_000080.4(CHRNE):c.721C>T (p.Leu241Phe)	rs28999110
NM_000083.3(CLCN1):c.1437_1450del (p.Pro480fs)	rs768119034
NM_000088.4(COL1A1):c.3028G>A (p.Gly1010Ser)	rs72653169
NM_000088.4(COL1A1):c.543G>A (p.Met181Ile)	rs72667022
NM_000090.4(COL3A1):c.1997G>A (p.Gly666Asp)	rs121912921
NM_000090.4(COL3A1):c.2356G>A (p.Gly786Arg)	rs113485686
NM_000090.4(COL3A1):c.2553+5G>T	rs397509371
NM_000090.4(COL3A1):c.3518G>A (p.Gly1173Glu)	rs121912918
NM_000090.4(COL3A1):c.3563G>A (p.Gly1188Glu)	rs112456072
NM_000090.4(COL3A1):c.3851G>A (p.Gly1284Glu)	rs587779528
NM_000090.4(COL3A1):c.582+5G>A	rs587779671
NM_000090.4(COL3A1):c.889G>A (p.Gly297Arg)	rs1553507557
NM_000091.5(COL4A3):c.3044G>A (p.Gly1015Glu)	rs121912826
NM_000091.5(COL4A3):c.4571C>G (p.Ser1524Ter)	rs121912825
NM_000091.5(COL4A3):c.4929-388G>T	rs1325453230
NM_000093.5(COL5A1):c.4466G>A (p.Gly1489Glu)	rs121912932
NM_000093.5(COL5A1):c.655-2A>G	rs786205101
NM_000094.4(COL7A1):c.5532+1G>A	rs767182886
NM_000094.4(COL7A1):c.6017G>A (p.Gly2006Asp)	rs121912842
NM_000094.4(COL7A1):c.6946G>A (p.Gly2316Arg)	rs1575430201
NM_000094.4(COL7A1):c.8524_8527+10del	rs566181351
NM_000095.3(COMP):c.1405GAC[6] (p.Asp473dup)	rs193922900
NM_000095.3(COMP):c.1569C>G (p.Asn523Lys)	rs137852654
NM_000095.3(COMP):c.2152C>T (p.Arg718Trp)	rs28936368
NM_000095.3(COMP):c.2156G>A (p.Gly719Asp)	rs137852655
NM_000098.3(CPT2):c.110_111dup (p.Ser38fs)	rs754363068
NM_000098.3(CPT2):c.1883A>C (p.Tyr628Ser)	rs28936673
NM_000100.4(CSTB):c.218_219del (p.Leu73fs)	rs796943858
NM_000101.4(CYBA):c.269G>A (p.Arg90Gln)	rs104894513
NM_000101.4(CYBA):c.354C>A (p.Ser118Arg)	rs104894514
NM_000102.4(CYP17A1):c.715C>T (p.Arg239Ter)	rs104894136
NM_000103.4(CYP19A1):c.1310G>A (p.Cys437Tyr)	rs78310315
NM_000104.4(CYP1B1):c.1120G>A (p.Asp374Asn)	rs104893622
NM_000106.5(CYP2D6):c.505G>T (p.Gly169Ter)	rs5030865
NM_000108.5(DLD):c.1178T>C (p.Ile393Thr)	rs121964991
NM_000108.5(DLD):c.140T>C (p.Ile47Thr)	rs397514651
NM_000108.5(DLD):c.1436A>T (p.Asp479Val)	rs397514649
NM_000108.5(DLD):c.1483A>G (p.Arg495Gly)	rs121964989
NM_000111.3(SLC26A3):c.145_157del (p.Lys49fs)	rs386833456
NM_000111.3(SLC26A3):c.1652del (p.Phe551fs)	rs1584403556
NM_000111.3(SLC26A3):c.2024_2026dup (p.Ile675dup)	rs121913031
NM_000112.4(SLC26A2):c.1273A>G (p.Asn425Asp)	rs104893920
NM_000112.4(SLC26A2):c.1724del (p.Lys575fs)	rs386833498
NM_000112.4(SLC26A2):c.391del (p.Leu131fs)	rs786200881
NM_000113.3(TOR1A):c.904GAG[1] (p.Glu303del)	rs80358233
NM_000116.5(TAFAZZIN):c.109+5G>C	rs2148185111
NM_000116.5(TAFAZZIN):c.153C>G (p.Tyr51Ter)	rs104894941
NM_000116.5(TAFAZZIN):c.352T>C (p.Cys118Arg)	rs104894937
NM_000116.5(TAFAZZIN):c.718G>A (p.Gly240Arg)	rs387907218
NM_000119.2(EPB42):c.929G>A (p.Arg310Gln)	rs121917734
NM_000124.4(ERCC6):c.1518del (p.Lys506fs)	rs786205168
NM_000124.4(ERCC6):c.3284C>G (p.Pro1095Arg)	rs4253208
NM_000125.4(ESR1):c.1181G>A (p.Arg394His)	rs1131692059
NM_000127.3(EXT1):c.357C>A (p.Tyr119Ter)	rs119103289
NM_000128.4(F11):c.1782C>A (p.Ser594Arg)	rs28934609
NM_000129.4(F13A1):c.2110C>T (p.Arg704Trp)	rs267606787
NM_000131.4(F7):c.-55C>T	rs1418012389
NM_000132.4(F8):c.1214T>G (p.Ile405Ser)	rs28933670
NM_000132.4(F8):c.1331A>G (p.Lys444Arg)	rs28937272
NM_000132.4(F8):c.1636C>T (p.Arg546Trp)	rs137852416
NM_000132.4(F8):c.2009TCT[2] (p.Phe672del)	rs1476178386
NM_000132.4(F8):c.4379del (p.Asn1460fs)	rs387906455
NM_000132.4(F8):c.4379dup (p.Asn1460fs)	rs387906455
NM_000132.4(F8):c.5422C>T (p.Leu1808Phe)	rs137852445
NM_000132.4(F8):c.5558C>T (p.Ala1853Val)	rs28933677
NM_000132.4(F8):c.5879G>A (p.Arg1960Gln)	rs28937294
NM_000132.4(F8):c.592T>G (p.Cys198Gly)	rs137852475
NM_000132.4(F8):c.6506G>A (p.Arg2169His)	rs137852461
NM_000132.4(F8):c.6533G>T (p.Arg2178Leu)	rs137852465
NM_000132.4(F8):c.6968G>A (p.Arg2323His)	rs137852474
NM_000132.4(F8):c.797G>A (p.Gly266Glu)	rs137852398
NM_000132.4(F8):c.980T>C (p.Leu327Pro)	rs137852407
NM_000132.4(F8):c.986G>A (p.Cys329Tyr)	rs137852409
NM_000133.4(F9):c.1009G>C (p.Ala337Pro)	rs137852253
NM_000133.4(F9):c.1328T>C (p.Ile443Thr)	rs137852268
NM_000133.4(F9):c.224G>A (p.Arg75Gln)	rs137852228
NM_000133.4(F9):c.676C>T (p.Arg226Trp)	rs137852240
NM_000133.4(F9):c.804T>G (p.Cys268Trp)	rs137852246
NM_000133.4(F9):c.917A>G (p.Asn306Ser)	rs137852251
NM_000136.3(FANCC):c.1555dup (p.Thr519fs)	rs794726667
NM_000136.3(FANCC):c.165+1G>T	rs794726668
NM_000137.4(FAH):c.1141A>G (p.Arg381Gly)	rs121965077
NM_000137.4(FAH):c.401C>A (p.Ala134Asp)	rs121965074
NM_000137.4(FAH):c.47A>T (p.Asn16Ile)	rs121965073
NM_000138.5(FBN1):c.1453C>T (p.Arg485Cys)	rs137854485
NM_000138.5(FBN1):c.164+1G>A	rs794728213
NM_000138.5(FBN1):c.2168A>C (p.Asp723Ala)	rs137854463
NM_000138.5(FBN1):c.2261A>G (p.Tyr754Cys)	rs137854479
NM_000138.5(FBN1):c.3379G>A (p.Gly1127Ser)	rs137854468
NM_000138.5(FBN1):c.3725G>A (p.Cys1242Tyr)	rs137854471
NM_000138.5(FBN1):c.5087A>G (p.Tyr1696Cys)	rs387906625
NM_000138.5(FBN1):c.6431A>G (p.Asn2144Ser)	rs137854461
NM_000138.5(FBN1):c.6739+1G>C	rs869025419
NM_000138.5(FBN1):c.718C>T (p.Arg240Cys)	rs137854480
NM_000138.5(FBN1):c.7726C>T (p.Arg2576Cys)	rs147195031
NM_000138.5(FBN1):c.8226+1G>A	rs398122833
NM_000140.5(FECH):c.1136del (p.Lys379fs)	rs764466739
NM_000140.5(FECH):c.163G>T (p.Gly55Cys)	rs3848519
NM_000141.5(FGFR2):c.1124A>G (p.Tyr375Cys)	rs121913478
NM_000141.5(FGFR2):c.1694A>C (p.Glu565Ala)	rs121918506
NM_000141.5(FGFR2):c.755_756delinsTT (p.Ser252Phe)	rs121918498
NM_000142.5(FGFR3):c.1619A>C (p.Asn540Thr)	rs77722678
NM_000142.5(FGFR3):c.1620C>G (p.Asn540Lys)	rs28933068
NM_000142.5(FGFR3):c.1950G>C (p.Lys650Asn)	rs28928868
NM_000142.5(FGFR3):c.749C>G (p.Pro250Arg)	rs4647924
NM_000143.4(FH):c.1390+1G>T	rs886039367
NM_000143.4(FH):c.1431_1433dup (p.Lys477dup)	rs367543046
NM_000143.4(FH):c.698G>T (p.Arg233Leu)	rs121913123
NM_000145.4(FSHR):c.1760C>A (p.Pro587His)	rs386833512
NM_000146.4(FTL):c.-161C>T	rs398124636
NM_000146.4(FTL):c.-164C>A	rs398124637
NM_000147.5(FUCA1):c.1138G>T (p.Glu380Ter)	rs80358195
NM_000151.4(G6PC1):c.551G>A (p.Gly184Glu)	rs104894569
NM_000152.5(GAA):c.1076-1G>A	rs1555600050
NM_000152.5(GAA):c.896T>G (p.Leu299Arg)	rs121907940
NM_000153.4(GALC):c.1657G>A (p.Gly553Arg)	rs748573754
NM_000153.4(GALC):c.1901del (p.Thr633_Leu634insTer)	rs1555378534
NM_000153.4(GALC):c.953C>G (p.Pro318Arg)	rs387906954
NM_000155.4(GALT):c.-119_-116delGTCA	rs111033640
NM_000155.4(GALT):c.221T>C (p.Leu74Pro)	rs111033663
NM_000155.4(GALT):c.547C>A (p.Pro183Thr)	rs111033721
NM_000155.4(GALT):c.957C>A (p.His319Gln)	rs111033792
NM_000155.4(GALT):c.997C>T (p.Arg333Trp)	rs111033800
NM_000156.6(GAMT):c.148A>C (p.Met50Leu)	rs104894694
NM_000157.4(GBA1):c.1208G>C (p.Ser403Thr)	rs121908307
NM_000157.4(GBA1):c.1448T>C (p.Leu483Pro)	rs421016
NM_000158.4(GBE1):c.1543C>T (p.Arg515Cys)	rs80338672
NM_000159.4(GCDH):c.1247C>T (p.Thr416Ile)	rs121434368
NM_000159.4(GCDH):c.883T>C (p.Tyr295His)	rs121434366
NM_000162.5(GCK):c.391T>C (p.Ser131Pro)	rs104894010
NM_000162.5(GCK):c.781G>A (p.Gly261Arg)	rs104894008
NM_000165.5(GJA1):c.226C>A (p.Arg76Ser)	rs267606845
NM_000165.5(GJA1):c.65G>A (p.Gly22Glu)	rs104893964
NM_000166.6(GJB1):c.283G>A (p.Val95Met)	rs104894821
NM_000166.6(GJB1):c.304G>T (p.Glu102Ter)	rs1602349143
NM_000166.6(GJB1):c.304_306del (p.Glu102del)	rs1555937135
NM_000166.6(GJB1):c.410del (p.Ile137fs)	rs1602349316
NM_000166.6(GJB1):c.658C>T (p.Arg220Ter)	rs104894814
NM_000168.6(GLI3):c.1873C>T (p.Arg625Trp)	rs121917712
NM_000169.3(GLA):c.1066C>T (p.Arg356Trp)	rs104894827
NM_000169.3(GLA):c.1147_1149del (p.Phe383del)	rs1057519609
NM_000169.3(GLA):c.1277_1278del (p.Lys426fs)	rs869312249
NM_000169.3(GLA):c.1284_1287del (p.Leu428fs)	rs869312250
NM_000169.3(GLA):c.194G>C (p.Ser65Thr)	rs104894848
NM_000169.3(GLA):c.427G>C (p.Ala143Pro)	rs104894845
NM_000169.3(GLA):c.436C>T (p.Pro146Ser)	rs104894837
NM_000169.3(GLA):c.484T>C (p.Trp162Arg)	rs28935196
NM_000169.3(GLA):c.791A>T (p.Asp264Val)	rs28935486
NM_000169.3(GLA):c.815A>G (p.Asn272Ser)	rs28935495
NM_000169.3(GLA):c.835C>G (p.Gln279Glu)	rs28935485
NM_000169.3(GLA):c.890C>T (p.Ser297Phe)	rs28935489
NM_000169.3(GLA):c.983G>C (p.Gly328Ala)	rs28935492
NM_000170.3(GLDC):c.1545G>C (p.Arg515Ser)	rs121964976
NM_000170.3(GLDC):c.2267_2269del (p.Phe756del)	rs121964975
NM_000171.4(GLRA1):c.298del (p.Arg100fs)	rs281864915
NM_000173.7(GP1BA):c.217C>T (p.Leu73Phe)	rs121908063
NM_000173.7(GP1BA):c.746G>T (p.Gly249Val)	rs121908062
NM_000174.5(GP9):c.20T>C (p.Leu7Pro)	rs121918038
NM_000175.5(GPI):c.1040G>A (p.Arg347His)	rs137853583
NM_000176.3(NR3C1):c.2035G>A (p.Gly679Ser)	rs104893914
NM_000180.3(GUCY2D):c.389del (p.Pro130Leufs)	rs61749670
NM_000180.4(GUCY2D):c.2513G>A (p.Arg838His)	rs61750173
NM_000180.4(GUCY2D):c.2798T>C (p.Val933Ala)	rs1567961904
NM_000180.4(GUCY2D):c.2944+1del	rs61750185
NM_000181.4(GUSB):c.1484A>G (p.Tyr495Cys)	rs121918178
NM_000181.4(GUSB):c.1730G>T (p.Arg577Leu)	rs121918183
NM_000184.2(HBG2):c.49G>C (p.Gly17Arg)	rs34907654
NM_000186.4(CFH):c.1606T>C (p.Cys536Arg)	rs121913052
NM_000186.4(CFH):c.2697T>A (p.Tyr899Ter)	rs121913057
NM_000186.4(CFH):c.2876G>A (p.Cys959Tyr)	rs121913053
NM_000186.4(CFH):c.350+6T>G	rs387906550
NM_000186.4(CFH):c.3572C>T (p.Ser1191Leu)	rs460897
NM_000186.4(CFH):c.380G>T (p.Arg127Leu)	rs121913058
NM_000188.3(HK1):c.1241G>A (p.Gly414Glu)	rs1064795154
NM_000188.3(HK1):c.1252A>G (p.Lys418Glu)	rs1564557037
NM_000188.3(HK1):c.1334C>T (p.Ser445Leu)	rs1064794848
NM_000188.3(HK1):c.1370C>T (p.Thr457Met)	rs1057517928
NM_000190.4(HMBS):c.331G>A (p.Gly111Arg)	rs118204107
NM_000190.4(HMBS):c.667G>A (p.Glu223Lys)	rs118204110
NM_000191.3(HMGCL):c.206_207del (p.Ser69fs)	rs752137615
NM_000191.3(HMGCL):c.914_915del (p.Phe305fs)	rs786205431
NM_000193.4(SHH):c.995T>C (p.Val332Ala)	rs104894052
NM_000194.2(HPRT1):c.151C>T (p.Arg51Ter)	rs137852494
NM_000194.2(HPRT1):c.170T>C (p.Met57Thr)	rs137852495
NM_000194.2(HPRT1):c.211G>C (p.Gly71Arg)	rs137852488
NM_000194.3(HPRT1):c.508C>T (p.Arg170Ter)	rs137852497
NM_000195.5(HPS1):c.1996G>T (p.Glu666Ter)	rs121908385
NM_000195.5(HPS1):c.972dup (p.Met325fs)	rs281865082
NM_000197.2(HSD17B3):c.608C>T (p.Ala203Val)	rs119481076
NM_000199.5(SGSH):c.617G>C (p.Arg206Pro)	rs104894643
NM_000202.8(IDS):c.1122C>T (p.Gly374=)	rs113993948
NM_000202.8(IDS):c.1264T>G (p.Cys422Gly)	rs199422229
NM_000202.8(IDS):c.1425G>A (p.Trp475Ter)	rs199422230
NM_000202.8(IDS):c.404A>G (p.Lys135Arg)	rs104894861
NM_000202.8(IDS):c.514C>T (p.Arg172Ter)	rs104894860
NM_000202.8(IDS):c.998C>T (p.Ser333Leu)	rs104894853
NM_000203.5(IDUA):c.1475G>C (p.Arg492Pro)	rs121965026
NM_000206.3(IL2RG):c.452T>C (p.Leu151Pro)	rs137852511
NM_000207.3(INS):c.100C>G (p.His34Asp)	rs121918101
NM_000207.3(INS):c.143T>G (p.Phe48Cys)	rs80356668
NM_000207.3(INS):c.187+241G>A	rs886041083
NM_000207.3(INS):c.265C>T (p.Arg89Cys)	rs80356669
NM_000207.3(INS):c.287G>A (p.Cys96Tyr)	rs80356671
NM_000207.3(INS):c.71C>A (p.Ala24Asp)	rs80356663
NM_000207.3(INS):c.94G>A (p.Gly32Ser)	rs80356664
NM_000208.4(INSR):c.3540G>A (p.Met1180Ile)	rs121913157
NM_000209.4(PDX1):c.670G>A (p.Glu224Lys)	rs137852787
NM_000209.4(PDX1):c.714GCC[6] (p.Pro244_Gly245insPro)	rs193922357
NM_000212.3(ITGB3):c.1544G>A (p.Arg515Gln)	rs13306487
NM_000212.3(ITGB3):c.2231T>C (p.Leu744Pro)	rs398122374
NM_000213.5(ITGB4):c.3674G>A (p.Arg1225His)	rs121912468
NM_000214.3(JAG1):c.701G>A (p.Cys234Tyr)	rs121918353
NM_000215.4(JAK3):c.1333C>T (p.Arg445Ter)	rs137852626
NM_000215.4(JAK3):c.507C>A (p.Asp169Glu)	rs147181709
NM_000218.3(KCNQ1):c.1573G>A (p.Ala525Thr)	rs120074188
NM_000218.3(KCNQ1):c.1893dup (p.Arg632fs)	rs397508104
NM_000218.3(KCNQ1):c.565G>A (p.Gly189Arg)	rs104894252
NM_000222.3(KIT):c.1676T>A (p.Val559Asp)	rs121913517
NM_000222.3(KIT):c.1676T>C (p.Val559Ala)	rs121913517
NM_000222.3(KIT):c.1676_1681del (p.Val559_Val560del)	rs121913685
NM_000222.3(KIT):c.2447A>T (p.Asp816Val)	rs121913507
NM_000226.4(KRT9):c.470T>C (p.Met157Thr)	rs59510579
NM_000226.4(KRT9):c.483T>A (p.Asn161Lys)	rs57536312
NM_000231.3(SGCG):c.800_801del (p.Cys267fs)	rs780348174
NM_000231.3(SGCG):c.801_802del (p.Pro268fs)	rs2137534216
NM_000232.5(SGCB):c.243+3_243+6del	rs1553940660
NM_000232.5(SGCB):c.272G>T (p.Arg91Leu)	rs104893869
NM_000232.5(SGCB):c.299T>A (p.Met100Lys)	rs104893871
NM_000232.5(SGCB):c.323T>G (p.Leu108Arg)	rs104893870
NM_000232.5(SGCB):c.552T>G (p.Tyr184Ter)	rs104893868
NM_000233.4(LHCGR):c.1118C>T (p.Ala373Val)	rs121912528
NM_000233.4(LHCGR):c.1193T>C (p.Met398Thr)	rs121912526
NM_000233.4(LHCGR):c.50_55dup (p.Gln18_Pro19insLeuGln)	rs71245621
NM_000235.4(LIPA):c.594dup (p.Ala199fs)	rs780495201
NM_000237.3(LPL):c.1174C>G (p.Leu392Val)	rs118204078
NM_000237.3(LPL):c.300C>A (p.Tyr100Ter)	rs118204074
NM_000238.4(KCNH2):c.1468G>A (p.Ala490Thr)	rs28928905
NM_000238.4(KCNH2):c.1744C>T (p.Arg582Cys)	rs121912508
NM_000243.3(MEFV):c.1432C>T (p.His478Tyr)	rs104895105
NM_000243.3(MEFV):c.1437C>G (p.Phe479Leu)	rs104895083
NM_000243.3(MEFV):c.2040G>C (p.Met680Ile)	rs28940580
NM_000243.3(MEFV):c.2076_2078del (p.Ile692del)	rs104895093
NM_000243.3(MEFV):c.2230G>T (p.Ala744Ser)	rs61732874
NM_000243.3(MEFV):c.726C>G (p.Ser242Arg)	rs104895127
NM_000245.4(MET):c.3392T>C (p.Met1131Thr)	rs121913668
NM_000245.4(MET):c.3689A>G (p.Tyr1230Cys)	rs121913246
NM_000249.4(MLH1):c.1852_1853delinsGC (p.Lys618Ala)	rs35502531
NM_000249.4(MLH1):c.1942C>T (p.Pro648Ser)	rs63750899
NM_000249.4(MLH1):c.2041G>A (p.Ala681Thr)	rs63750217
NM_000249.4(MLH1):c.793C>T (p.Arg265Cys)	rs63751194
NM_000249.4(MLH1):c.986A>C (p.His329Pro)	rs63750710
NM_000250.2(MPO):c.1555_1568del (p.Met519fs)	rs536522394
NM_000251.3(MSH2):c.1571G>C (p.Arg524Pro)	rs63751207
NM_000252.3(MTM1):c.1261-10A>G	rs397518445
NM_000252.3(MTM1):c.469G>A (p.Glu157Lys)	rs132630307
NM_000252.3(MTM1):c.679-1G>A	rs672601324
NM_000254.3(MTR):c.2640_2642del (p.Ile881del)	rs797044443
NM_000255.4(MMUT):c.643G>A (p.Gly215Ser)	rs121918258
NM_000256.3(MYBPC3):c.2618C>A (p.Pro873His)	rs371401403
NM_000256.3(MYBPC3):c.821+5G>A	rs397516077
NM_000256.3(MYBPC3):c.913_914delTT	rs397516080
NM_000257.4(MYH7):c.1750G>C (p.Gly584Arg)	rs121913626
NM_000257.4(MYH7):c.2146G>A (p.Gly716Arg)	rs121913638
NM_000257.4(MYH7):c.2156G>A (p.Arg719Gln)	rs121913641
NM_000257.4(MYH7):c.2221G>C (p.Gly741Arg)	rs121913632
NM_000257.4(MYH7):c.2229G>C (p.Glu743Asp)	rs397516139
NM_000257.4(MYH7):c.2770G>A (p.Glu924Lys)	rs121913628
NM_000257.4(MYH7):c.5533C>T (p.Arg1845Trp)	rs28933098
NM_000257.4(MYH7):c.728G>A (p.Arg243His)	rs267606910
NM_000257.4(MYH7):c.746G>A (p.Arg249Gln)	rs3218713
NM_000261.2(MYOC):c.734G>A (p.Cys245Tyr)	rs74315340
NM_000263.4(NAGLU):c.1694G>C (p.Arg565Pro)	rs104894598
NM_000268.4(NF2):c.169C>T (p.Arg57Ter)	rs121434259
NM_000268.4(NF2):c.185T>C (p.Phe62Ser)	rs121434261
NM_000268.4(NF2):c.285CTT[1] (p.Phe96del)	rs121434260
NM_000270.4(PNP):c.520G>C (p.Ala174Pro)	rs104894454
NM_000270.4(PNP):c.575A>G (p.Tyr192Cys)	rs104894452
NM_000271.5(NPC1):c.1553G>A (p.Arg518Gln)	rs483352886
NM_000271.5(NPC1):c.2974G>T (p.Gly992Trp)	rs80358254
NM_000271.5(NPC1):c.3104C>T (p.Ala1035Val)	rs28942107
NM_000271.5(NPC1):c.337T>C (p.Cys113Arg)	rs120074136
NM_000273.3(GPR143):c.455G>A (p.Ser152Asn)	rs58933950
NM_000274.4(OAT):c.1124G>C (p.Gly375Ala)	rs121965045
NM_000274.4(OAT):c.1172G>A (p.Trp391Ter)	rs386833596
NM_000274.4(OAT):c.1186C>T (p.Arg396Ter)	rs121965036
NM_000274.4(OAT):c.159del (p.His53fs)	rs386833599
NM_000274.4(OAT):c.192_193del (p.Gly65fs)	rs386833600
NM_000274.4(OAT):c.199+303C>G	rs386833601
NM_000274.4(OAT):c.268C>G (p.Gln90Glu)	rs121965060
NM_000274.4(OAT):c.278G>T (p.Cys93Phe)	rs121965038
NM_000274.4(OAT):c.425-4_429del	rs386833609
NM_000274.4(OAT):c.461G>T (p.Arg154Leu)	rs121965039
NM_000274.4(OAT):c.812G>A (p.Arg271Lys)	rs121965042
NM_000274.4(OAT):c.824G>A (p.Trp275Ter)	rs267606924
NM_000277.3(PAH):c.1065+3A>G	rs62508689
NM_000277.3(PAH):c.1092_1094del (p.Leu365del)	rs62516096
NM_000277.3(PAH):c.1092_1106del (p.Leu365_Leu369del)	rs62516097
NM_000277.3(PAH):c.1220C>T (p.Pro407Leu)	rs62644473
NM_000277.3(PAH):c.281TCA[1] (p.Ile95del)	rs62508727
NM_000277.3(PAH):c.662A>G (p.Glu221Gly)	rs62514934
NM_000277.3(PAH):c.731C>T (p.Pro244Leu)	rs118203923
NM_000277.3(PAH):c.764T>C (p.Leu255Ser)	rs62642930
NM_000278.5(PAX2):c.167G>A (p.Arg56Gln)	rs587777708
NM_000278.5(PAX2):c.221_226dup (p.Glu74_Thr75dup)	rs387906530
NM_000278.5(PAX2):c.226G>A (p.Gly76Ser)	rs79555199
NM_000281.4(PCBD1):c.236C>T (p.Thr79Ile)	rs121913014
NM_000282.4(PCCA):c.1899+2_1899+3insCT	rs2081058900
NM_000282.4(PCCA):c.1899+4_1899+7del	rs794727334
NM_000284.4(PDHA1):c.1142_1145dup (p.Trp383fs)	rs606231189
NM_000284.4(PDHA1):c.29G>C (p.Arg10Pro)	rs137853257
NM_000284.4(PDHA1):c.615C>G (p.Phe205Leu)	rs137853254
NM_000284.4(PDHA1):c.648A>C (p.Leu216Phe)	rs121917898
NM_000284.4(PDHA1):c.900-3_917dup	rs606231188
NM_000285.4(PEPD):c.692_694del (p.Tyr231del)	rs745834191
NM_000286.3(PEX12):c.684_687del (p.Ser229fs)	rs62642859
NM_000286.3(PEX12):c.959C>T (p.Ser320Phe)	rs28936697
NM_000287.4(PEX6):c.*438TAAA[1]	rs144286892
NM_000287.4(PEX6):c.1238G>T (p.Gly413Val)	rs1554127531
NM_000287.4(PEX6):c.2094G>A (p.Lys698=)	rs2481209830
NM_000288.4(PEX7):c.40A>C (p.Thr14Pro)	rs61753233
NM_000288.4(PEX7):c.694C>T (p.Arg232Ter)	rs121909153
NM_000289.6(PFKM):c.116G>C (p.Arg39Pro)	rs121918193
NM_000289.6(PFKM):c.283C>T (p.Arg95Ter)	rs121918195
NM_000293.3(PHKB):c.1969C>T (p.Gln657Ter)	rs34667348
NM_000295.4(SERPINA1):c.1093G>A (p.Asp365Asn)	rs143370956
NM_000295.5(SERPINA1):c.221TCT[2] (p.Phe76del)	rs775982338
NM_000297.4(PKD2):c.203dup (p.Ala69fs)	rs1187336837
NM_000303.3(PMM2):c.131T>C (p.Val44Ala)	rs104894534
NM_000303.3(PMM2):c.26G>A (p.Cys9Tyr)	rs104894532
NM_000303.3(PMM2):c.317A>T (p.Tyr106Phe)	rs387906824
NM_000303.3(PMM2):c.349G>C (p.Gly117Arg)	rs104894530
NM_000303.3(PMM2):c.385G>A (p.Val129Met)	rs104894525
NM_000303.3(PMM2):c.647A>T (p.Asn216Ile)	rs78290141
NM_000303.3(PMM2):c.677C>G (p.Thr226Ser)	rs80338706
NM_000303.3(PMM2):c.710C>G (p.Thr237Arg)	rs80338708
NM_000304.4(PMP22):c.281dup (p.Arg95fs)	rs80338763
NM_000304.4(PMP22):c.448G>T (p.Gly150Cys)	rs104894624
NM_000306.4(POU1F1):c.143-64T>G	rs1064796954
NM_000306.4(POU1F1):c.143-73T>G	rs2106940853
NM_000306.4(POU1F1):c.515G>A (p.Arg172Gln)	rs104893765
NM_000306.4(POU1F1):c.811C>T (p.Arg271Trp)	rs104893755
NM_000307.5(POU3F4):c.1000A>G (p.Lys334Glu)	rs104894922
NM_000308.4(CTSA):c.269C>T (p.Ser90Leu)	rs137854542
NM_000310.4(PPT1):c.169dup (p.Met57fs)	rs386833634
NM_000310.4(PPT1):c.236A>G (p.Asp79Gly)	rs137852697
NM_000311.5(PRNP):c.392G>T (p.Gly131Val)	rs74315410
NM_000313.4(PROS1):c.1063C>T (p.Arg355Cys)	rs387906674
NM_000313.4(PROS1):c.1501T>C (p.Ser501Pro)	rs121918472
NM_000313.4(PROS1):c.701A>G (p.Tyr234Cys)	rs387906675
NM_000314.8(PTEN):c.1003C>T (p.Arg335Ter)	rs121909231
NM_000314.8(PTEN):c.104T>G (p.Met35Arg)	rs121909225
NM_000314.8(PTEN):c.370T>C (p.Cys124Arg)	rs121909223
NM_000314.8(PTEN):c.386G>A (p.Gly129Glu)	rs121909218
NM_000314.8(PTEN):c.395G>T (p.Gly132Val)	rs121909241
NM_000314.8(PTEN):c.697C>T (p.Arg233Ter)	rs121909219
NM_000314.8(PTEN):c.701G>A (p.Arg234Gln)	rs121909235
NM_000316.3(PTH1R):c.103G>A (p.Glu35Lys)	rs1559532562
NM_000316.3(PTH1R):c.401A>C (p.Tyr134Ser)	rs1575520937
NM_000317.3(PTS):c.166G>A (p.Val56Met)	rs104894277
NM_000317.3(PTS):c.74G>A (p.Arg25Gln)	rs104894273
NM_000317.3(PTS):c.84-323A>T	rs794726657
NM_000321.3(RB1):c.-198G>A	rs387906521
NM_000321.3(RB1):c.1215+1G>A	rs587776783
NM_000321.3(RB1):c.1700C>T (p.Ser567Leu)	rs137853292
NM_000321.3(RB1):c.2134T>C (p.Cys712Arg)	rs137853296
NM_000321.3(RB1):c.2490-1398A>G	rs587776791
NM_000330.4(RS1):c.214G>A (p.Glu72Lys)	rs104894928
NM_000330.4(RS1):c.38T>C (p.Leu13Pro)	rs104894935
NM_000330.4(RS1):c.608C>T (p.Pro203Leu)	rs104894930
NM_000334.4(SCN4A):c.2411C>T (p.Ser804Phe)	rs121908546
NM_000335.5(SCN5A):c.2204C>T (p.Ala735Val)	rs137854611
NM_000335.5(SCN5A):c.4219G>A (p.Gly1407Arg)	rs137854612
NM_000335.5(SCN5A):c.635T>C (p.Leu212Pro)	rs199473070
NM_000337.6(SGCD):c.699+13_699+15del	rs397517924
NM_000337.6(SGCD):c.784G>A (p.Glu262Lys)	rs121909297
NM_000341.4(SLC3A1):c.1400T>A (p.Met467Lys)	rs121912691
NM_000341.4(SLC3A1):c.1955C>G (p.Thr652Arg)	rs121912695
NM_000341.4(SLC3A1):c.2033T>C (p.Leu678Pro)	rs121912693
NM_000342.4(SLC4A1):c.1199_1225del (p.Ala400_Ala408del)	rs769664228
NM_000342.4(SLC4A1):c.1765C>T (p.Arg589Cys)	rs121912745
NM_000343.4(SLC5A1):c.82G>A (p.Asp28Asn)	rs121912668
NM_000344.4(SMN1):c.785G>T (p.Ser262Ile)	rs1554066659
NM_000344.4(SMN1):c.815A>G (p.Tyr272Cys)	rs104893922
NM_000345.4(SNCA):c.88G>C (p.Ala30Pro)	rs104893878
NM_000346.4(SOX9):c.507C>G (p.His169Gln)	rs2229989
NM_000348.4(SRD5A2):c.682G>A (p.Ala228Thr)	rs121434249
NM_000349.3(STAR):c.466-11T>A	rs1053284504
NM_000350.2(ABCA4):c.[1622T>C;3113C>T]
NM_000352.6(ABCC8):c.1333-1013A>G	rs980458021
NM_000352.6(ABCC8):c.4055G>C (p.Arg1352Pro)	rs28936370
NM_000352.6(ABCC8):c.4160_4162del (p.Phe1387del)	rs151344624
NM_000352.6(ABCC8):c.4258C>T (p.Arg1420Cys)	rs28938469
NM_000352.6(ABCC8):c.4516G>A (p.Glu1506Lys)	rs137852671
NM_000353.3(TAT):c.169C>T (p.Arg57Ter)	rs118203914
NM_000359.3(TGM1):c.1147G>A (p.Val383Met)	rs121918722
NM_000359.3(TGM1):c.1166G>A (p.Arg389His)	rs121918723
NM_000359.3(TGM1):c.1187G>A (p.Arg396His)	rs121918721
NM_000359.3(TGM1):c.1187G>T (p.Arg396Leu)	rs121918721
NM_000359.3(TGM1):c.425G>C (p.Arg142Pro)	rs121918718
NM_000359.3(TGM1):c.919C>T (p.Arg307Trp)	rs121918731
NM_000360.4(TH):c.917G>A (p.Arg306His)	rs28934580
NM_000360.4(TH):c.983G>T (p.Cys328Phe)	rs121917765
NM_000361.3(THBD):c.1688dup (p.Gln564fs)	rs2515202194
NM_000362.5(TIMP3):c.565G>T (p.Gly189Cys)	rs137853301
NM_000365.6(TPI1):c.721T>C (p.Phe241Leu)	rs121964847
NM_000368.5(TSC1):c.671T>G (p.Met224Arg)	rs118203426
NM_000369.5(TSHR):c.1358T>C (p.Met453Thr)	rs121908864
NM_000369.5(TSHR):c.1657G>A (p.Ala553Thr)	rs121908872
NM_000371.4(TTR):c.233T>A (p.Leu78His)	rs121918069
NM_000371.4(TTR):c.272T>C (p.Val91Ala)	rs121918084
NM_000371.4(TTR):c.325G>C (p.Glu109Gln)	rs121918082
NM_000371.4(TTR):c.421GTC[1] (p.Val142del)	rs121918096
NM_000372.5(TYR):c.125A>G (p.Asp42Gly)	rs28940878
NM_000376.3(VDR):c.1036G>A (p.Val346Met)	rs267607169
NM_000376.3(VDR):c.239G>A (p.Arg80Gln)	rs121909793
NM_000376.3(VDR):c.885C>A (p.Tyr295Ter)	rs121909792
NM_000377.3(WAS):c.244T>C (p.Ser82Pro)	rs132630272
NM_000380.4(XPA):c.323G>T (p.Cys108Phe)	rs104894131
NM_000382.3(ALDH3A2):c.798G>C (p.Lys266Asn)	rs72547569
NM_000382.3(ALDH3A2):c.941_943delinsGGGCTAAAAGTACTGTTGGGG (p.Ala314_Pro315delinsGlyAlaLysSerThrValGlyAla)	rs730880264
NM_000383.4(AIRE):c.247A>G (p.Lys83Glu)	rs121434255
NM_000383.4(AIRE):c.967_979del (p.Leu323fs)	rs386833675
NM_000384.3(APOB):c.26TGGCGCTGC[1] (p.9LAL[1])	rs17240441
NM_000388.4(CASR):c.1657G>A (p.Gly553Arg)	rs104893719
NM_000388.4(CASR):c.2362T>C (p.Phe788Leu)	rs104893711
NM_000388.4(CASR):c.2528C>A (p.Ala843Glu)	rs104893706
NM_000390.4(CHM):c.1520A>G (p.His507Arg)	rs397514603
NM_000391.4(TPP1):c.857A>G (p.Asn286Ser)	rs119455958
NM_000394.4(CRYAA):c.27G>A (p.Trp9Ter)	rs74315440
NM_000394.4(CRYAA):c.34C>T (p.Arg12Cys)	rs397515624
NM_000396.4(CTSK):c.721C>T (p.Arg241Ter)	rs74315303
NM_000396.4(CTSK):c.830C>T (p.Ala277Val)	rs74315304
NM_000397.4(CYBB):c.301C>T (p.His101Tyr)	rs137854594
NM_000397.4(CYBB):c.625C>T (p.His209Tyr)	rs137854587
NM_000398.7(CYB5R3):c.763GAG[1] (p.Glu256del)	rs121965017
NM_000399.5(EGR2):c.1225C>T (p.Arg409Trp)	rs104894159
NM_000400.4(ERCC2):c.1703_1704del (p.Phe568fs)	rs587778271
NM_000402.4(G6PD):c.1054T>C (p.Tyr352His)	rs137852347
NM_000402.4(G6PD):c.1172C>T (p.Ala391Val)	rs137852345
NM_000402.4(G6PD):c.1179C>A (p.Asn393Lys)	rs137852329
NM_000402.4(G6PD):c.1192G>A (p.Glu398Lys)	rs387906468
NM_000402.4(G6PD):c.1243T>C (p.Cys415Arg)	rs137852322
NM_000402.4(G6PD):c.1246A>G (p.Lys416Glu)	rs137852320
NM_000402.4(G6PD):c.1249C>T (p.Arg417Cys)	rs137852334
NM_000402.4(G6PD):c.1250G>A (p.Arg417His)	rs137852321
NM_000402.4(G6PD):c.1268G>A (p.Arg423His)	rs137852316
NM_000402.4(G6PD):c.1270G>C (p.Val424Leu)	rs137852335
NM_000402.4(G6PD):c.1406G>C (p.Arg469Pro)	rs137852337
NM_000402.4(G6PD):c.1429G>A (p.Gly477Arg)	rs137852317
NM_000402.4(G6PD):c.1466G>C (p.Arg489Pro)	rs72554665
NM_000402.4(G6PD):c.221C>G (p.Ala74Gly)	rs78478128
NM_000402.4(G6PD):c.262G>A (p.Asp88Asn)	rs137852315
NM_000402.4(G6PD):c.298T>C (p.Tyr100His)	rs137852349
NM_000402.4(G6PD):c.482G>T (p.Gly161Val)	rs137852341
NM_000402.4(G6PD):c.607T>C (p.Phe203Leu)	rs137852343
NM_000402.4(G6PD):c.683G>A (p.Arg228His)	rs137852332
NM_000402.4(G6PD):c.683G>C (p.Arg228Pro)	rs137852332
NM_000402.4(G6PD):c.727G>T (p.Val243Leu)	rs137852326
NM_000402.4(G6PD):c.896G>A (p.Cys299Tyr)	rs137852346
NM_000404.4(GLB1):c.1223A>C (p.Gln408Pro)	rs72555369
NM_000405.5(GM2A):c.164C>T (p.Pro55Leu)	rs730882196
NM_000405.5(GM2A):c.262_264del (p.Lys88del)	rs1753894328
NM_000407.5(GP1BB):c.137G>A (p.Trp46Ter)	rs121909752
NM_000407.5(GP1BB):c.338A>G (p.Tyr113Cys)	rs121909750
NM_000410.4(HFE):c.848A>C (p.Gln283Pro)	rs111033563
NM_000414.4(HSD17B4):c.1369A>T (p.Asn457Tyr)	rs137853097
NM_000416.3(IFNGR1):c.653_655del (p.Glu218del)	rs587776858
NM_000419.5(ITGA2B):c.1346G>A (p.Gly449Asp)	rs1598380253
NM_000419.5(ITGA2B):c.1366_1371del (p.Val456_Asp457del)	rs780017389
NM_000419.5(ITGA2B):c.2870C>T (p.Ser957Leu)	rs80002943
NM_000419.5(ITGA2B):c.3076C>T (p.Arg1026Trp)	rs766503255
NM_000419.5(ITGA2B):c.3077G>A (p.Arg1026Gln)	rs879255514
NM_000419.5(ITGA2B):c.818G>A (p.Gly273Asp)	rs137852907
NM_000423.3(KRT2):c.542A>C (p.Gln181Pro)	rs57510142
NM_000426.4(LAMA2):c.2049_2050del (p.Arg683fs)	rs202247790
NM_000426.4(LAMA2):c.3718C>T (p.Gln1240Ter)	rs121913569
NM_000426.4(LAMA2):c.4524-2A>T	rs1554278541
NM_000426.4(LAMA2):c.9253C>T (p.Arg3085Ter)	rs121913571
NM_000430.4(PAFAH1B1):c.484G>A (p.Gly162Ser)	rs121434487
NM_000432.4(MYL2):c.64G>A (p.Glu22Lys)	rs104894368
NM_000433.4(NCF2):c.1183C>T (p.Arg395Trp)	rs13306575
NM_000433.4(NCF2):c.298C>T (p.Gln100Ter)	rs119103276
NM_000435.3(NOTCH3):c.505C>T (p.Arg169Cys)	rs28933696
NM_000436.4(OXCT1):c.1248+5G>A	rs1561081472
NM_000440.3(PDE6A):c.304C>A (p.Arg102Ser)	rs141252097
NM_000441.2(SLC26A4):c.1105A>G (p.Lys369Glu)	rs121908361
NM_000441.2(SLC26A4):c.1115C>T (p.Ala372Val)	rs121908364
NM_000441.2(SLC26A4):c.1198del (p.Cys400fs)	rs397516413
NM_000441.2(SLC26A4):c.397T>A (p.Ser133Thr)	rs121908365
NM_000443.4(ABCB4):c.1633C>G (p.Arg545Gly)	rs397514620
NM_000444.6(PHEX):c.1701A>C (p.Arg567=)	rs2518659982
NM_000451.4(SHOX):c.458G>T (p.Arg153Leu)	rs137852555
NM_000451.4(SHOX):c.877T>C (p.Ter293Arg)	rs137852559
NM_000454.5(SOD1):c.217G>A (p.Gly73Ser)	rs121912455
NM_000454.5(SOD1):c.313A>T (p.Ile105Phe)	rs121912445
NM_000454.5(SOD1):c.357_357+2del	rs2123435651
NM_000454.5(SOD1):c.37G>C (p.Gly13Arg)	rs121912456
NM_000454.5(SOD1):c.83_88del (p.Gly28_Pro29del)	rs2049569360
NM_000455.5(STK11):c.200T>C (p.Leu67Pro)	rs137853077
NM_000458.4(HNF1B):c.1055dup (p.Tyr352Ter)	rs1568645768
NM_000458.4(HNF1B):c.494G>A (p.Arg165His)	rs121918675
NM_000463.3(UGT1A1):c.686C>A (p.Pro229Gln)	rs35350960
NM_000466.3(PEX1):c.1742G>C (p.Arg581Pro)	rs370483961
NM_000466.3(PEX1):c.2916del (p.Gly973fs)	rs61750426
NM_000474.4(TWIST1):c.400_420dup (p.Ser140_Asp141insIleIleProThrLeuProSer)	rs1585616948
NM_000474.4(TWIST1):c.563C>T (p.Ser188Leu)	rs121909191
NM_000476.3(AK1):c.319C>T (p.Arg107Ter)	rs104894102
NM_000478.6(ALPL):c.1001G>A (p.Gly334Asp)	rs121918009
NM_000478.6(ALPL):c.211C>T (p.Arg71Cys)	rs121918001
NM_000481.4(AMT):c.806G>A (p.Gly269Asp)	rs121964981
NM_000482.4(APOA4):c.1134_1145dup (p.376QQEQ[4])	rs539176882
NM_000483.5(APOC2):c.177C>A (p.Tyr59Ter)	rs120074111
NM_000483.5(APOC2):c.1A>G (p.Met1Val)	rs120074112
NM_000483.5(APOC2):c.274dup (p.Gln92fs)	rs756916028
NM_000485.3(APRT):c.518TCT[1] (p.Phe174del)	rs121912681
NM_000486.6(AQP2):c.170A>C (p.Gln57Pro)	rs28931580
NM_000487.6(ARSA):c.467G>A (p.Gly156Asp)	rs74315463
NM_000487.6(ARSA):c.506C>G (p.Pro169Arg)	rs74315465
NM_000488.4(SERPINC1):c.1141T>C (p.Ser381Pro)	rs121909565
NM_000488.4(SERPINC1):c.116T>A (p.Ile39Asn)	rs121909558
NM_000488.4(SERPINC1):c.1240G>A (p.Ala414Thr)	rs121909557
NM_000488.4(SERPINC1):c.1271G>A (p.Gly424Asp)	rs121909566
NM_000488.4(SERPINC1):c.1274G>C (p.Arg425Pro)	rs121909549
NM_000488.4(SERPINC1):c.1277C>T (p.Ser426Leu)	rs121909550
NM_000488.4(SERPINC1):c.1306G>A (p.Ala436Thr)	rs121909546
NM_000488.4(SERPINC1):c.1316C>T (p.Pro439Leu)	rs121909555
NM_000488.4(SERPINC1):c.166C>T (p.Arg56Cys)	rs28929469
NM_000488.4(SERPINC1):c.235C>A (p.Arg79Ser)	rs121909547
NM_000488.4(SERPINC1):c.442T>C (p.Ser148Pro)	rs121909569
NM_000488.4(SERPINC1):c.482G>A (p.Arg161Gln)	rs121909563
NM_000488.4(SERPINC1):c.500A>C (p.Asn167Thr)	rs121909570
NM_000488.4(SERPINC1):c.830del (p.Glu277fs)	rs1572088775
NM_000489.6(ATRX):c.6149T>C (p.Ile2050Thr)	rs122445110
NM_000490.5(AVP):c.229GAG[1] (p.Glu78del)	rs2066119604
NM_000490.5(AVP):c.287G>T (p.Gly96Val)	rs121964886
NM_000492.3(CFTR):c.1521_1523del (p.Phe508del)	rs113993960
NM_000492.4(CFTR):c.1373G>T (p.Gly458Val)	rs121909009
NM_000492.4(CFTR):c.1475C>T (p.Ser492Phe)	rs121909017
NM_000492.4(CFTR):c.1651G>A (p.Gly551Ser)	rs121909013
NM_000492.4(CFTR):c.1679G>A (p.Arg560Lys)	rs80055610
NM_000492.4(CFTR):c.171G>A (p.Trp57Ter)	rs121909025
NM_000492.4(CFTR):c.1820_1903del (p.Met607_Gln634del)	rs121908777
NM_000492.4(CFTR):c.2551C>T (p.Arg851Ter)	rs121909012
NM_000492.4(CFTR):c.3199G>A (p.Ala1067Thr)	rs121909020
NM_000492.4(CFTR):c.3212A>C (p.Gln1071Pro)	rs121909037
NM_000492.4(CFTR):c.3254A>G (p.His1085Arg)	rs79635528
NM_000492.4(CFTR):c.350G>A (p.Arg117His)	rs78655421
NM_000492.4(CFTR):c.3712C>T (p.Gln1238Ter)	rs121908766
NM_000492.4(CFTR):c.3717+4A>G	rs387906362
NM_000492.4(CFTR):c.3763T>C (p.Ser1255Pro)	rs121909041
NM_000492.4(CFTR):c.4056G>C (p.Gln1352His)	rs113857788
NM_000493.4(COL10A1):c.1953G>A (p.Trp651Ter)	rs111033547
NM_000493.4(COL10A1):c.2011T>C (p.Ser671Pro)	rs111033552
NM_000497.4(CYP11B1):c.1121G>A (p.Arg374Gln)	rs104894062
NM_000497.4(CYP11B1):c.1179_1180dup (p.Asn394fs)	rs758714890
NM_000497.4(CYP11B1):c.281C>T (p.Pro94Leu)	rs104894070
NM_000497.4(CYP11B1):c.954G>A (p.Thr318=)	rs753774484
NM_000500.9(CYP21A2):c.1451_1452delinsC (p.Arg484fs)	rs397509367
NM_000500.9(CYP21A2):c.293-13C>G	rs6467
NM_000500.9(CYP21A2):c.844G>T (p.Val282Leu)	rs6471
NM_000504.4(F10):c.160G>A (p.Glu54Lys)	rs121964939
NM_000506.3(F2):c.1273C>T (p.Arg425Cys)	rs121918479
NM_000508.3(FGA):c.116T>A (p.Val39Asp)	rs121909614
NM_000508.3(FGA):c.1358G>A (p.Ser453Asn)	rs121909610
NM_000508.3(FGA):c.1717C>T (p.Arg573Cys)	rs121909613
NM_000512.4(GALNS):c.413T>C (p.Val138Ala)	rs118204436
NM_000512.5(GALNS):c.1019G>A (p.Gly340Asp)	rs267606838
NM_000512.5(GALNS):c.1290_1291del (p.His430fs)	rs2142992359
NM_000512.5(GALNS):c.205T>G (p.Phe69Val)	rs118204445
NM_000512.5(GALNS):c.280C>G (p.Arg94Gly)	rs118204441
NM_000516.7(GNAS):c.344C>T (p.Pro115Leu)	rs137854539
NM_000516.7(GNAS):c.565_568del (p.Asp189fs)	rs587776829
NM_000516.7(GNAS):c.601C>A (p.Arg201Ser)	rs11554273
NM_000517.4(HBA2):c.233C>A (p.Pro78His)	rs281864861
NM_000517.4(HBA2):c.286C>T (p.Pro96Ser)	rs281864881
NM_000517.4(HBA2):c.427T>A (p.Ter143Lys)	rs41464951
NM_000517.4(HBA2):c.427T>G (p.Ter143Glu)	rs41464951
NM_000517.4(HBA2):c.47G>A (p.Gly16Asp)	rs34956202
NM_000517.6(HBA2):c.106T>C (p.Ser36Pro)	rs63750776
NM_000517.6(HBA2):c.150C>A (p.Ser50Arg)	rs41518249
NM_000517.6(HBA2):c.151C>G (p.His51Asp)	rs41461652
NM_000517.6(HBA2):c.179G>A (p.Gly60Asp)	rs281864846
NM_000517.6(HBA2):c.187G>A (p.Val63Met)	rs41515649
NM_000517.6(HBA2):c.19_21del (p.Asp7del)	rs34623271
NM_000517.6(HBA2):c.200T>C (p.Leu67Pro)	rs41323248
NM_000517.6(HBA2):c.22A>G (p.Lys8Glu)	rs34817956
NM_000517.6(HBA2):c.257A>T (p.Asp86Val)	rs41331747
NM_000517.6(HBA2):c.301-1G>A	rs587776827
NM_000517.6(HBA2):c.309C>A (p.Ser103Arg)	rs41344646
NM_000517.6(HBA2):c.30C>G (p.Asn10Lys)	rs111033604
NM_000517.6(HBA2):c.310C>T (p.His104Tyr)	rs63750073
NM_000517.6(HBA2):c.377T>C (p.Leu126Pro)	rs41397847
NM_000517.6(HBA2):c.379G>A (p.Asp127Asn)	rs33933481
NM_000517.6(HBA2):c.420del (p.Lys140fs)	rs63750520
NM_000517.6(HBA2):c.428A>C (p.Ter143Ser)	rs41321345
NM_000517.6(HBA2):c.70G>T (p.Glu24Ter)	rs281864819
NM_000517.6(HBA2):c.89T>C (p.Leu30Pro)	rs41341344
NM_000517.6(HBA2):c.91_93del (p.Glu31del)	rs281864560
NM_000518.4(HBB):c.-82C>A	rs34500389
NM_000518.4(HBB):c.125T>C (p.Phe42Ser)	rs33926796
NM_000518.4(HBB):c.137T>C (p.Phe46Ser)	rs33978338
NM_000518.4(HBB):c.137T>G (p.Phe46Cys)	rs33978338
NM_000518.4(HBB):c.142G>A (p.Asp48Asn)	rs33932070
NM_000518.4(HBB):c.142G>T (p.Asp48Tyr)	rs33932070
NM_000518.4(HBB):c.149C>G (p.Ser50Cys)	rs33960931
NM_000518.4(HBB):c.157G>C (p.Asp53His)	rs33961886
NM_000518.4(HBB):c.158A>C (p.Asp53Ala)	rs33919924
NM_000518.4(HBB):c.182T>A (p.Val61Glu)	rs33931779
NM_000518.4(HBB):c.184A>G (p.Lys62Glu)	rs33995148
NM_000518.4(HBB):c.191A>G (p.His64Arg)	rs33985544
NM_000518.4(HBB):c.194G>C (p.Gly65Ala)	rs33922018
NM_000518.4(HBB):c.19G>C (p.Glu7Gln)	rs33930165
NM_000518.4(HBB):c.202G>A (p.Val68Met)	rs36008922
NM_000518.4(HBB):c.203T>G (p.Val68Gly)	rs33918343
NM_000518.4(HBB):c.208G>C (p.Gly70Arg)	rs33947415
NM_000518.4(HBB):c.20A>C (p.Glu7Ala)	rs334
NM_000518.4(HBB):c.212C>T (p.Ala71Val)	rs33946401
NM_000518.4(HBB):c.232C>G (p.His78Asp)	rs33991294
NM_000518.4(HBB):c.232C>T (p.His78Tyr)	rs33991294
NM_000518.4(HBB):c.238G>A (p.Asp80Asn)	rs33990858
NM_000518.4(HBB):c.238G>C (p.Asp80His)	rs33990858
NM_000518.4(HBB):c.238G>T (p.Asp80Tyr)	rs33990858
NM_000518.4(HBB):c.23A>G (p.Glu8Gly)	rs34387455
NM_000518.4(HBB):c.247A>G (p.Lys83Glu)	rs33940051
NM_000518.4(HBB):c.248A>T (p.Lys83Met)	rs33987903
NM_000518.4(HBB):c.25A>G (p.Lys9Glu)	rs33926764
NM_000518.4(HBB):c.263C>A (p.Thr88Lys)	rs33993568
NM_000518.4(HBB):c.266T>C (p.Leu89Pro)	rs33940204
NM_000518.4(HBB):c.266T>G (p.Leu89Arg)	rs33940204
NM_000518.4(HBB):c.271G>A (p.Glu91Lys)	rs33913712
NM_000518.4(HBB):c.275T>C (p.Leu92Pro)	rs33917785
NM_000518.4(HBB):c.275T>G (p.Leu92Arg)	rs33917785
NM_000518.4(HBB):c.277C>T (p.His93Tyr)	rs33924775
NM_000518.4(HBB):c.283G>A (p.Asp95Asn)	rs33959340
NM_000518.4(HBB):c.292C>A (p.His98Asn)	rs33950993
NM_000518.4(HBB):c.293A>T (p.His98Leu)	rs33951978
NM_000518.4(HBB):c.29C>G (p.Ser10Cys)	rs33918131
NM_000518.4(HBB):c.302C>G (p.Pro101Arg)	rs33965000
NM_000518.4(HBB):c.320T>G (p.Leu107Arg)	rs33941844
NM_000518.4(HBB):c.34G>T (p.Val12Phe)	rs33974228
NM_000518.4(HBB):c.361A>G (p.Lys121Glu)	rs33924134
NM_000518.4(HBB):c.364G>A (p.Glu122Lys)	rs33946267
NM_000518.4(HBB):c.364G>C (p.Glu122Gln)	rs33946267
NM_000518.4(HBB):c.365A>G (p.Glu122Gly)	rs33987957
NM_000518.4(HBB):c.365A>T (p.Glu122Val)	rs33987957
NM_000518.4(HBB):c.371C>T (p.Thr124Ile)	rs33935383
NM_000518.4(HBB):c.374C>T (p.Pro125Leu)	rs33983276
NM_000518.4(HBB):c.386C>A (p.Ala129Asp)	rs33957286
NM_000518.4(HBB):c.386C>T (p.Ala129Val)	rs33957286
NM_000518.4(HBB):c.388G>C (p.Ala130Pro)	rs35939430
NM_000518.4(HBB):c.395A>C (p.Gln132Pro)	rs33950778
NM_000518.4(HBB):c.422C>A (p.Ala141Asp)	rs33927093
NM_000518.4(HBB):c.428C>A (p.Ala143Asp)	rs33921821
NM_000518.4(HBB):c.44T>G (p.Leu15Arg)	rs33935445
NM_000518.4(HBB):c.64G>A (p.Asp22Asn)	rs33950093
NM_000518.4(HBB):c.64G>T (p.Asp22Tyr)	rs33950093
NM_000518.4(HBB):c.67G>A (p.Glu23Lys)	rs33959855
NM_000518.4(HBB):c.67G>C (p.Glu23Gln)	rs33959855
NM_000518.4(HBB):c.68A>G (p.Glu23Gly)	rs33936254
NM_000518.4(HBB):c.68A>T (p.Glu23Val)	rs33936254
NM_000518.4(HBB):c.71T>A (p.Val24Asp)	rs33945546
NM_000518.4(HBB):c.83C>A (p.Ala28Asp)	rs33954632
NM_000518.4(HBB):c.8A>G (p.His3Arg)	rs33983205
NM_000518.4(HBB):c.98T>C (p.Leu33Pro)	rs33948578
NM_000518.5(HBB):c.*110_*114del	rs35949130
NM_000518.5(HBB):c.*112A>G	rs63750954
NM_000518.5(HBB):c.-136C>G	rs33994806
NM_000518.5(HBB):c.-138C>A	rs33944208
NM_000518.5(HBB):c.-142C>T	rs34883338
NM_000518.5(HBB):c.-50A>C	rs34305195
NM_000518.5(HBB):c.100G>A (p.Val34Met)	rs1141370
NM_000518.5(HBB):c.103G>T (p.Val35Phe)	rs1141387
NM_000518.5(HBB):c.110del (p.Pro37fs)	rs267607297
NM_000518.5(HBB):c.112T>G (p.Trp38Gly)	rs33994623
NM_000518.5(HBB):c.116C>A (p.Thr39Asn)	rs34703513
NM_000518.5(HBB):c.118C>A (p.Gln40Lys)	rs11549407
NM_000518.5(HBB):c.128T>C (p.Phe43Ser)	rs34378160
NM_000518.5(HBB):c.134C>G (p.Ser45Cys)	rs34868397
NM_000518.5(HBB):c.140G>A (p.Gly47Glu)	rs35303218
NM_000518.5(HBB):c.169G>C (p.Gly57Arg)	rs33935983
NM_000518.5(HBB):c.16C>T (p.Pro6Ser)	rs33912272
NM_000518.5(HBB):c.174C>A (p.Asn58Lys)	rs35278874
NM_000518.5(HBB):c.179A>C (p.Lys60Thr)	rs35537181
NM_000518.5(HBB):c.180G>C (p.Lys60Asn)	rs34621955
NM_000518.5(HBB):c.186G>C (p.Lys62Asn)	rs34446260
NM_000518.5(HBB):c.190C>T (p.His64Tyr)	rs33922873
NM_000518.5(HBB):c.19GAG[1] (p.Glu8del)	rs63750928
NM_000518.5(HBB):c.200A>C (p.Lys67Thr)	rs35939489
NM_000518.5(HBB):c.205C>T (p.Leu69Phe)	rs33961459
NM_000518.5(HBB):c.22G>A (p.Glu8Lys)	rs34948328
NM_000518.5(HBB):c.230C>A (p.Ala77Asp)	rs33985847
NM_000518.5(HBB):c.235del (p.Leu79fs)	rs281865475
NM_000518.5(HBB):c.239A>G (p.Asp80Gly)	rs34173382
NM_000518.5(HBB):c.250G>C (p.Gly84Arg)	rs33930385
NM_000518.5(HBB):c.250G>T (p.Gly84Cys)	rs33930385
NM_000518.5(HBB):c.251G>A (p.Gly84Asp)	rs1803195
NM_000518.5(HBB):c.253A>G (p.Thr85Ala)	rs35960772
NM_000518.5(HBB):c.272A>G (p.Glu91Gly)	rs35068498
NM_000518.5(HBB):c.288G>C (p.Lys96Asn)	rs36038739
NM_000518.5(HBB):c.314G>C (p.Arg105Thr)	rs33911434
NM_000518.5(HBB):c.315G>C (p.Arg105Ser)	rs33914944
NM_000518.5(HBB):c.316-3C>A	rs33913413
NM_000518.5(HBB):c.316-3C>G	rs33913413
NM_000518.5(HBB):c.316-8T>G	rs34793594
NM_000518.5(HBB):c.316C>T (p.Leu106Phe)	rs34022507
NM_000518.5(HBB):c.328G>A (p.Val110Met)	rs33969677
NM_000518.5(HBB):c.328G>C (p.Val110Leu)	rs33969677
NM_000518.5(HBB):c.328del (p.Val110fs)	rs63751201
NM_000518.5(HBB):c.344T>C (p.Leu115Pro)	rs36015961
NM_000518.5(HBB):c.349C>T (p.His117Tyr)	rs34049764
NM_000518.5(HBB):c.363A>C (p.Lys121Asn)	rs34726542
NM_000518.5(HBB):c.373C>T (p.Pro125Ser)	rs35461710
NM_000518.5(HBB):c.380T>A (p.Val127Glu)	rs33925391
NM_000518.5(HBB):c.394C>A (p.Gln132Lys)	rs33910209
NM_000518.5(HBB):c.394C>G (p.Gln132Glu)	rs33910209
NM_000518.5(HBB):c.397A>C (p.Lys133Gln)	rs33953406
NM_000518.5(HBB):c.419A>C (p.Asn140Thr)	rs34407387
NM_000518.5(HBB):c.420T>A (p.Asn140Lys)	rs34240441
NM_000518.5(HBB):c.425T>G (p.Leu142Arg)	rs35854892
NM_000518.5(HBB):c.431A>C (p.His144Pro)	rs33918338
NM_000518.5(HBB):c.431A>G (p.His144Arg)	rs33918338
NM_000518.5(HBB):c.435G>C (p.Lys145Asn)	rs35020585
NM_000518.5(HBB):c.436T>C (p.Tyr146His)	rs33949869
NM_000518.5(HBB):c.437A>G (p.Tyr146Cys)	rs35117167
NM_000518.5(HBB):c.440_441dup (p.Ter148ThrextTer?)	rs33999427
NM_000518.5(HBB):c.4G>A (p.Val2Met)	rs33958358
NM_000518.5(HBB):c.4G>T (p.Val2Leu)	rs33958358
NM_000518.5(HBB):c.59A>G (p.Asn20Ser)	rs33972047
NM_000518.5(HBB):c.5T>C (p.Val2Ala)	rs33949930
NM_000518.5(HBB):c.60C>A (p.Asn20Lys)	rs63750840
NM_000518.5(HBB):c.62T>A (p.Val21Glu)	rs33918474
NM_000518.5(HBB):c.89G>A (p.Gly30Asp)	rs35685286
NM_000518.5(HBB):c.8A>C (p.His3Pro)	rs33983205
NM_000518.5(HBB):c.93-3T>G	rs34527846
NM_000518.5(HBB):c.9T>A (p.His3Gln)	rs713040
NM_000520.6(HEXA):c.-2564_253+5128delinsG
NM_000520.6(HEXA):c.1074-7_1074-3del	rs759219683
NM_000520.6(HEXA):c.116T>G (p.Leu39Arg)	rs121907979
NM_000520.6(HEXA):c.1360G>A (p.Gly454Ser)	rs121907978
NM_000520.6(HEXA):c.1453T>C (p.Trp485Arg)	rs121907968
NM_000520.6(HEXA):c.425_426del (p.Thr141_Phe142insTer)	rs1057519458
NM_000520.6(HEXA):c.590A>C (p.Lys197Thr)	rs121907973
NM_000520.6(HEXA):c.611A>G (p.His204Arg)	rs121907976
NM_000520.6(HEXA):c.629C>T (p.Ser210Phe)	rs121907961
NM_000520.6(HEXA):c.749G>A (p.Gly250Asp)	rs121907959
NM_000520.6(HEXA):c.912CTT[1] (p.Phe305del)	rs121907960
NM_000522.5(HOXA13):c.360_377dup (p.Ala133_Ser134insAlaAlaAlaAlaAlaAla)	rs35861510
NM_000525.4(KCNJ11):c.157G>A (p.Gly53Ser)	rs80356613
NM_000527.4(LDLR):c.664_681dup18 (p.Asp227_Glu228insCysLysAspLysSerAsp)	rs387906306
NM_000527.4(LDLR):c.694+2T>C	rs200238879
NM_000527.5(LDLR):c.-138del	rs387906307
NM_000527.5(LDLR):c.1118_1121dup (p.Tyr375fs)	rs875989916
NM_000527.5(LDLR):c.1216C>A (p.Arg406=)	rs121908043
NM_000527.5(LDLR):c.1297G>C (p.Asp433His)	rs121908036
NM_000527.5(LDLR):c.137G>C (p.Cys46Ser)	rs121908041
NM_000527.5(LDLR):c.139_144del (p.Asp47_Gly48del)	rs387906301
NM_000527.5(LDLR):c.1567G>A (p.Val523Met)	rs28942080
NM_000527.5(LDLR):c.1637G>A (p.Gly546Asp)	rs28942081
NM_000527.5(LDLR):c.1694G>T (p.Gly565Val)	rs28942082
NM_000527.5(LDLR):c.1891_2311+1062del
NM_000527.5(LDLR):c.2140+1G>A	rs145787161
NM_000527.5(LDLR):c.2140+86C>G	rs587776886
NM_000527.5(LDLR):c.2483A>G (p.Tyr828Cys)	rs28942085
NM_000527.5(LDLR):c.2531G>A (p.Gly844Asp)	rs121908037
NM_000527.5(LDLR):c.326G>C (p.Cys109Ser)	rs121908042
NM_000527.5(LDLR):c.523G>A (p.Asp175Asn)	rs121908033
NM_000527.5(LDLR):c.564C>G (p.Tyr188Ter)	rs121908034
NM_000527.5(LDLR):c.621C>T (p.Gly207=)	rs121908044
NM_000527.5(LDLR):c.651TGG[1] (p.Gly219del)	rs121908027
NM_000527.5(LDLR):c.670G>A (p.Asp224Asn)	rs387906303
NM_000527.5(LDLR):c.681C>G (p.Asp227Glu)	rs121908028
NM_000527.5(LDLR):c.682G>A (p.Glu228Lys)	rs121908029
NM_000527.5:c.(190+1_191-1)_(817+1_818-1)dup
NM_000528.4(MAN2B1):c.1915C>T (p.Gln639Ter)	rs121434332
NM_000528.4(MAN2B1):c.215A>T (p.His72Leu)	rs387906261
NM_000528.4(MAN2B1):c.2248C>T (p.Arg750Trp)	rs80338680
NM_000529.2(MC2R):c.601C>T (p.Arg201Ter)	rs104894659
NM_000530.8(MPZ):c.233C>T (p.Ser78Leu)	rs121913601
NM_000531.6(OTC):c.236G>A (p.Gly79Glu)	rs72554331
NM_000531.6(OTC):c.617T>G (p.Met206Arg)	rs72558412
NM_000531.6(OTC):c.674C>T (p.Pro225Leu)	rs67120076
NM_000531.6(OTC):c.77G>A (p.Arg26Gln)	rs68031618
NM_000532.5(PCCB):c.1218_1231delinsTAGAGCACAGGA (p.Gly407fs)	rs397507445
NM_000532.5(PCCB):c.654+462A>G	rs1576327011
NM_000533.5(PLP1):c.128C>T (p.Thr43Ile)	rs132630289
NM_000533.5(PLP1):c.409C>T (p.Arg137Trp)	rs132630295
NM_000533.5(PLP1):c.44C>T (p.Pro15Leu)	rs11543022
NM_000533.5(PLP1):c.453+2T>C	rs1556267388
NM_000533.5(PLP1):c.453+4A>G	rs1569427707
NM_000533.5(PLP1):c.487T>C (p.Trp163Arg)	rs132630279
NM_000533.5(PLP1):c.655G>T (p.Val219Phe)	rs132630281
NM_000533.5(PLP1):c.762+3G>T	rs1569428537
NM_000535.7(PMS2):c.1144+2T>A	rs267608158
NM_000536.4(RAG2):c.115A>G (p.Arg39Gly)	rs121917897
NM_000536.4(RAG2):c.123C>G (p.Cys41Trp)	rs121917895
NM_000536.4(RAG2):c.230C>A (p.Thr77Asn)	rs121918574
NM_000536.4(RAG2):c.686G>A (p.Arg229Gln)	rs121917894
NM_000536.4(RAG2):c.854T>G (p.Met285Arg)	rs121917896
NM_000539.3(RHO):c.1033G>A (p.Val345Met)	rs104893795
NM_000539.3(RHO):c.173C>G (p.Thr58Arg)	rs28933394
NM_000539.3(RHO):c.204_215del (p.Arg69_Leu72del)	rs2084757679
NM_000539.3(RHO):c.281C>T (p.Thr94Ile)	rs104893796
NM_000539.3(RHO):c.316G>A (p.Gly106Arg)	rs104893773
NM_000539.3(RHO):c.533A>G (p.Tyr178Cys)	rs104893776
NM_000539.3(RHO):c.632A>C (p.His211Pro)	rs28933993
NM_000539.3(RHO):c.762CAT[2] (p.Ile256del)	rs1553781360
NM_000539.3(RHO):c.789CTG[1] (p.Cys264del)	rs121918590
NM_000540.3(RYR1):c.1021G>A (p.Gly341Arg)	rs121918592
NM_000540.3(RYR1):c.1209C>G (p.Ile403Met)	rs118192116
NM_000540.3(RYR1):c.13013_13032del (p.Ala4338fs)	rs193922856
NM_000540.3(RYR1):c.14387A>G (p.Tyr4796Cys)	rs118192167
NM_000540.3(RYR1):c.14477C>T (p.Thr4826Ile)	rs121918595
NM_000540.3(RYR1):c.14582G>A (p.Arg4861His)	rs63749869
NM_000540.3(RYR1):c.14693T>C (p.Ile4898Thr)	rs118192170
NM_000540.3(RYR1):c.14761_14762delinsAC (p.Phe4921Thr)	rs118192171
NM_000540.3(RYR1):c.1565A>C (p.Tyr522Ser)	rs118192162
NM_000540.3(RYR1):c.487C>T (p.Arg163Cys)	rs118192161
NM_000540.3(RYR1):c.6488G>A (p.Arg2163His)	rs118192163
NM_000540.3(RYR1):c.6502G>A (p.Val2168Met)	rs118192176
NM_000540.3(RYR1):c.7039GAG[1] (p.Glu2348del)	rs121918596
NM_000540.3(RYR1):c.7304G>A (p.Arg2435His)	rs28933396
NM_000540.3(RYR1):c.742G>A (p.Gly248Arg)	rs1801086
NM_000543.5(SMPD1):c.1152G>A (p.Met384Ile)	rs120074121
NM_000543.5(SMPD1):c.1406A>C (p.Tyr469Ser)	rs267607074
NM_000543.5(SMPD1):c.1735G>A (p.Gly579Ser)	rs120074119
NM_000543.5(SMPD1):c.1826GCC[1] (p.Arg610del)	rs120074118
NM_000543.5(SMPD1):c.538_539del (p.Leu180fs)	rs786204694
NM_000546.6(TP53):c.1031T>C (p.Leu344Pro)	rs121912662
NM_000546.6(TP53):c.412G>C (p.Ala138Pro)	rs28934875
NM_000546.6(TP53):c.734G>A (p.Gly245Asp)	rs121912656
NM_000546.6(TP53):c.755T>C (p.Leu252Pro)	rs121912653
NM_000546.6(TP53):c.770T>A (p.Leu257Gln)	rs28934577
NM_000546.6(TP53):c.772G>A (p.Glu258Lys)	rs121912652
NM_000546.6(TP53):c.814G>T (p.Val272Leu)	rs121912657
NM_000546.6(TP53):c.818G>A (p.Arg273His)	rs28934576
NM_000548.5(TSC2):c.1513C>T (p.Arg505Ter)	rs45517179
NM_000548.5(TSC2):c.1832G>A (p.Arg611Gln)	rs28934872
NM_000548.5(TSC2):c.2714G>A (p.Arg905Gln)	rs45517259
NM_000548.5(TSC2):c.4508A>C (p.Gln1503Pro)	rs45516293
NM_000548.5(TSC2):c.5238_5255del (p.His1746_Arg1751del)	rs137854218
NM_000550.3(TYRP1):c.1103del (p.Lys368fs)	rs387906560
NM_000551.4(VHL):c.277G>A (p.Gly93Ser)	rs5030808
NM_000551.4(VHL):c.334T>C (p.Tyr112His)	rs104893824
NM_000551.4(VHL):c.414A>G (p.Pro138=)	rs869025648
NM_000551.4(VHL):c.574C>T (p.Pro192Ser)	rs28940300
NM_000552.5(VWF):c.1213_1214insATCCCA (p.Phe404_Thr405insAsnPro)	rs61754006
NM_000552.5(VWF):c.2411G>T (p.Cys804Phe)	rs62643630
NM_000552.5(VWF):c.3854C>T (p.Ser1285Phe)	rs61749380
NM_000552.5(VWF):c.3939G>C (p.Trp1313Cys)	rs61749392
NM_000552.5(VWF):c.4541T>G (p.Phe1514Cys)	rs61750101
NM_000552.5(VWF):c.4837T>C (p.Ser1613Pro)	rs61750581
NM_000553.6(WRN):c.1165del (p.Arg389fs)	rs878854131
NM_000557.5(GDF5):c.1139G>A (p.Arg380Gln)	rs397514668
NM_000557.5(GDF5):c.1199G>A (p.Cys400Tyr)	rs74315387
NM_000558.3(HBA1):c.134C>T (p.Pro45Leu)	rs33978134
NM_000558.3(HBA1):c.142G>A (p.Asp48Asn)	rs34269448
NM_000558.3(HBA1):c.154G>C (p.Gly52Arg)	rs33960522
NM_000558.3(HBA1):c.179G>A (p.Gly60Asp)	rs28928878
NM_000558.3(HBA1):c.19G>T (p.Asp7Tyr)	rs33961916
NM_000558.3(HBA1):c.20A>G (p.Asp7Gly)	rs33986902
NM_000558.3(HBA1):c.270C>G (p.His90Gln)	rs1061009
NM_000558.3(HBA1):c.272A>C (p.Lys91Thr)	rs33911106
NM_000558.3(HBA1):c.278G>T (p.Arg93Leu)	rs33991779
NM_000558.3(HBA1):c.283G>C (p.Asp95His)	rs34102339
NM_000558.3(HBA1):c.286C>A (p.Pro96Thr)	rs33984621
NM_000558.3(HBA1):c.287C>G (p.Pro96Arg)	rs33931314
NM_000558.3(HBA1):c.287C>T (p.Pro96Leu)	rs33931314
NM_000558.3(HBA1):c.310C>T (p.His104Tyr)	rs28928884
NM_000558.3(HBA1):c.313T>A (p.Cys105Ser)	rs35059618
NM_000558.3(HBA1):c.344C>G (p.Pro115Arg)	rs33910377
NM_000558.3(HBA1):c.349G>A (p.Glu117Lys)	rs63749882
NM_000558.3(HBA1):c.425G>C (p.Arg142Pro)	rs33935328
NM_000558.3(HBA1):c.49A>G (p.Lys17Glu)	rs41407250
NM_000558.3(HBA1):c.70G>A (p.Glu24Lys)	rs33939620
NM_000558.3(HBA1):c.74A>G (p.Tyr25Cys)	rs28928880
NM_000558.5(HBA1):c.104T>G (p.Leu35Arg)	rs35203445
NM_000558.5(HBA1):c.113CCA[2] (p.Thr40del)	rs63751150
NM_000558.5(HBA1):c.163C>G (p.Gln55Glu)	rs35317336
NM_000558.5(HBA1):c.173G>A (p.Gly58Asp)	rs36062788
NM_000558.5(HBA1):c.17C>A (p.Ala6Asp)	rs34090856
NM_000558.5(HBA1):c.188_190del (p.Val63del)	rs35672478
NM_000558.5(HBA1):c.205A>G (p.Asn69Asp)	rs34823698
NM_000558.5(HBA1):c.223G>A (p.Asp75Asn)	rs28928875
NM_000558.5(HBA1):c.223G>C (p.Asp75His)	rs28928875
NM_000558.5(HBA1):c.24G>C (p.Lys8Asn)	rs34410516
NM_000558.5(HBA1):c.262C>T (p.His88Tyr)	rs28928876
NM_000558.5(HBA1):c.332C>A (p.Ala111Asp)	rs63749948
NM_000558.5(HBA1):c.350A>C (p.Glu117Ala)	rs35932809
NM_000558.5(HBA1):c.46G>C (p.Gly16Arg)	rs35816645
NM_000558.5(HBA1):c.55G>C (p.Gly19Arg)	rs34504387
NM_000558.5(HBA1):c.84G>T (p.Glu28Asp)	rs41530750
NM_000558.5(HBA1):c.91G>A (p.Glu31Lys)	rs33993166
NM_000574.5(CD55):c.261G>A (p.Trp87Ter)	rs121909603
NM_000583.4(GC):c.1307C>A (p.Thr436Lys)	rs4588
NM_000587.4(C7):c.1561C>A (p.Arg521Ser)	rs121964920
NM_000601.6(HGF):c.482+1986_482+1988del	rs1788701297
NM_000602.4(SERPINE1):c.-820_-817G(4_5)	rs1799762
NM_000612.6(IGF2):c.195del (p.Ile66fs)	rs1858779370
NM_000642.3(AGL):c.4259+5G>A	rs780504025
NM_000660.7(TGFB1):c.1159T>C (p.Cys387Arg)	rs1336387628
NM_000660.7(TGFB1):c.133C>T (p.Arg45Cys)	rs1555755308
NM_000660.7(TGFB1):c.328C>T (p.Arg110Cys)	rs1555755242
NM_000660.7(TGFB1):c.653G>A (p.Arg218His)	rs104894720
NM_000686.5(AGTR2):c.402del (p.Phe134fs)	rs387906503
NM_000701.8(ATP1A1):c.1775T>C (p.Ile592Thr)	rs1553192086
NM_000701.8(ATP1A1):c.2576T>G (p.Met859Arg)	rs781629728
NM_000702.4(ATP1A2):c.1133C>A (p.Thr378Asn)	rs28934002
NM_000702.4(ATP1A2):c.2105_2106del (p.Cys702fs)	rs1558008455
NM_000702.4(ATP1A2):c.2192T>C (p.Met731Thr)	rs28933400
NM_000702.4(ATP1A2):c.2336G>A (p.Ser779Asn)	rs2101995480
NM_000702.4(ATP1A2):c.2723G>A (p.Arg908Gln)	rs2101996488
NM_000702.4(ATP1A2):c.835del (p.Arg279fs)	rs1558005340
NM_000709.4(BCKDHA):c.1226T>G (p.Phe409Cys)	rs137852872
NM_000709.4(BCKDHA):c.792C>G (p.Cys264Trp)	rs137852876
NM_000720.4(CACNA1D):c.1208G>A (p.Gly403Asp)	rs386834264
NM_000720.4(CACNA1D):c.1208_1209insGGG (p.Gly403dup)	rs398122827
NM_000742.4(CHRNA2):c.1126C>T (p.Arg376Trp)	rs1018084204
NM_000744.7(CHRNA4):c.851C>T (p.Ser284Leu)	rs28931591
NM_000760.4(CSF3R):c.922C>T (p.Arg308Cys)	rs606231473
NM_000760.4(CSF3R):c.998-2A>T	rs879253750
NM_000782.5(CYP24A1):c.476G>A (p.Arg159Gln)	rs387907322
NM_000784.4(CYP27A1):c.1183C>A (p.Arg395Ser)	rs121908096
NM_000784.4(CYP27A1):c.1435C>G (p.Arg479Gly)	rs72551322
NM_000784.4(CYP27A1):c.944_948del (p.Leu315fs)	rs397515356
NM_000785.4(CYP27B1):c.374G>A (p.Gly125Glu)	rs28934605
NM_000785.4(CYP27B1):c.566A>G (p.Glu189Gly)	rs118204012
NM_000787.4(DBH):c.342C>A (p.Asp114Glu)	rs77576840
NM_000797.4(DRD4):c.235_247del (p.Ala79fs)	rs587776842
NM_000807.4(GABRA2):c.1003A>C (p.Asn335His)	rs1560442716
NM_000809.4(GABRA4):c.899C>T (p.Thr300Ile)	rs2475916759
NM_000810.4(GABRA5):c.880G>T (p.Val294Phe)	rs1595438243
NM_000812.4(GABRB1):c.860C>T (p.Thr287Ile)	rs886039818
NM_000814.6(GABRB3):c.94G>A (p.Gly32Arg)	rs71651682
NM_000824.5(GLRB):c.596T>G (p.Met199Arg)	rs398122856
NM_000827.4(GRIA1):c.1906G>A (p.Ala636Thr)	rs587776937
NM_000829.4(GRIA4):c.1931C>T (p.Ala644Val)	rs1555050174
NM_000829.4(GRIA4):c.2090G>C (p.Arg697Pro)	rs765556214
NM_000834.5(GRIN2B):c.1367G>A (p.Cys456Tyr)	rs397514555
NM_000834.5(GRIN2B):c.1619G>A (p.Arg540His)	rs672601378
NM_000834.5(GRIN2B):c.1658C>T (p.Pro553Leu)	rs397514556
NM_000834.5(GRIN2B):c.2044C>T (p.Arg682Cys)	rs387906636
NM_000834.5(GRIN2B):c.99dup (p.Ser34fs)	rs398122823
NM_000836.4(GRIN2D):c.1345G>A (p.Asp449Asn)	rs1569064110
NM_000836.4(GRIN2D):c.1999G>A (p.Val667Ile)	rs886040861
NM_000875.5(IGF1R):c.361G>A (p.Glu121Lys)	rs1555434208
NM_000875.5(IGF1R):c.413G>A (p.Arg138Gln)	rs121912426
NM_000888.5(ITGB6):c.586C>A (p.Pro196Thr)	rs730880298
NM_000890.5(KCNJ5):c.451G>A (p.Gly151Arg)	rs386352319
NM_000891.3(KCNJ2):c.161G>T (p.Cys54Phe)	rs199473650
NM_000891.3(KCNJ2):c.652C>T (p.Arg218Trp)	rs104894578
NM_000901.5(NR3C2):c.2017C>T (p.Arg673Ter)	rs121912571
NM_000925.4(PDHB):c.310T>G (p.Leu104Val)	rs201199166
NM_000925.4(PDHB):c.314G>A (p.Arg105Gln)	rs868788199
NM_000925.4(PDHB):c.395A>G (p.Tyr132Cys)	rs28935769
NM_000932.5(PLCB3):c.2632G>T (p.Ala878Ser)	rs760695903
NM_000937.5(POLR2A):c.2203C>T (p.Gln735Ter)	rs1597798503
NM_000942.5(PPIB):c.26T>G (p.Met9Arg)	rs137853864
NM_000944.5(PPP3CA):c.275A>G (p.His92Arg)	rs1553925558
NM_000944.5(PPP3CA):c.843C>G (p.His281Gln)	rs199706529
NM_000964.4(RARA):c.826C>T (p.Arg276Trp)	rs786205678
NM_000965.5(RARB):c.1159C>T (p.Arg387Cys)	rs397518483
NM_000977.4(RPL13):c.477+1G>A	rs1597675888
NM_000977.4(RPL13):c.548G>C (p.Arg183Pro)	rs1597676540
NM_000979.4(RPL18):c.152T>C (p.Leu51Ser)	rs1568425218
NM_000996.4(RPL35A):c.79CTT[1] (p.Leu28del)	rs116840807
NM_001001548.3(CD36):c.949dup (p.Ile317fs)	rs70961716
NM_001001557.4(GDF6):c.1287C>A (p.Ser429Arg)	rs1554571225
NM_001001563.5(TIMM50):c.446C>T (p.Thr149Met)	rs1244226820
NM_001002295.2(GATA3):c.1099C>T (p.Arg367Ter)	rs104894164
NM_001002295.2(GATA3):c.431del (p.Gly144fs)	rs1588377948
NM_001002295.2(GATA3):c.829C>T (p.Arg277Ter)	rs104894162
NM_001002755.4(NFU1):c.545G>A (p.Arg182Gln)	rs1281276965
NM_001002755.4(NFU1):c.565G>A (p.Gly189Arg)	rs2104735490
NM_001003722.2(GLE1):c.2078C>T (p.Ser693Phe)	rs1564162129
NM_001003787.4(STRADA):c.792T>A (p.Ser264Arg)	rs1057519011
NM_001003800.2(BICD2):c.1502G>C (p.Arg501Pro)	rs398123032
NM_001003800.2(BICD2):c.2321A>G (p.Glu774Gly)	rs398123030
NM_001003800.2(BICD2):c.563A>C (p.Asn188Thr)	rs398123029
NM_001005273.3(CHD3):c.2745G>T (p.Leu915Phe)	rs1567855669
NM_001005273.3(CHD3):c.2953C>T (p.Arg985Trp)	rs1555611722
NM_001005273.3(CHD3):c.3515G>A (p.Arg1172Gln)	rs1567861501
NM_001005361.3(DNM2):c.1072G>A (p.Gly358Arg)	rs267606772
NM_001005361.3(DNM2):c.1609G>T (p.Gly537Cys)	rs121909093
NM_001005361.3(DNM2):c.1664_1671+1del	rs1568314339
NM_001005361.3(DNM2):c.1709T>A (p.Leu570His)	rs121909094
NM_001005498.4(RHBDF2):c.479C>T (p.Pro160Leu)	rs387907130
NM_001007228.2(SPOP):c.248A>G (p.Tyr83Cys)	rs2072168176
NM_001007228.2(SPOP):c.362G>A (p.Arg121Gln)	rs2072157379
NM_001007228.2(SPOP):c.395G>T (p.Gly132Val)	rs2072155694
NM_001007228.2(SPOP):c.412C>T (p.Arg138Cys)	rs968974699
NM_001007228.2(SPOP):c.430G>A (p.Asp144Asn)	rs2072153488
NM_001007228.2(SPOP):c.73A>G (p.Thr25Ala)	rs2072244773
NM_001007527.2(LMBRD2):c.1448G>A (p.Arg483His)	rs2111857835
NM_001008216.2(GALE):c.308A>G (p.Asp103Gly)	rs28940883
NM_001009925.2(TMEM230):c.233G>T (p.Arg78Leu)	rs764786986
NM_001009944.3(PKD1):c.11249_11263del (p.Arg3750_Leu3754del)	rs1567154953
NM_001009944.3(PKD1):c.12682C>T (p.Arg4228Ter)	rs199476095
NM_001009944.3(PKD1):c.3296-1G>A	rs1567204631
NM_001009996.3(DALRD3):c.1251C>A (p.Tyr417Ter)	rs1163930676
NM_001009999.3(KDM1A):c.1739A>G (p.Asp580Gly)	rs864309716
NM_001010867.4(IBA57):c.310G>T (p.Gly104Cys)	rs936626275
NM_001010867.4(IBA57):c.323A>C (p.Tyr108Ser)	rs781627051
NM_001012339.3(DNAJC21):c.983+1G>T	rs368148362
NM_001012763.1(GNRHR):c.30_31delinsAA (p.Asn10_Gln11delinsLysLys)	rs281865427
NM_001013663.2(PTRHD1):c.365G>A (p.Arg122Gln)	rs1238843879
NM_001013703.4(EIF2AK4):c.1387C>T (p.Arg463Ter)	rs587777107
NM_001013703.4(EIF2AK4):c.1392del (p.Arg465fs)	rs587777102
NM_001013838.3(CARMIL2):c.1115T>G (p.Leu372Arg)	rs1567628757
NM_001013838.3(CARMIL2):c.149G>C (p.Arg50Thr)	rs1567626023
NM_001015048.3(BAG5):c.1168C>T (p.Arg390Ter)	rs182208325
NM_001015878.2(AURKC):c.145del (p.Leu49fs)	rs397515619
NM_001017420.3(ESCO2):c.1269G>A (p.Trp423Ter)	rs80359864
NM_001017420.3(ESCO2):c.1615T>G (p.Trp539Gly)	rs80359868
NM_001017980.4(VMA21):c.*6A>G	rs878854355
NM_001017980.4(VMA21):c.272G>C (p.Gly91Ala)	rs878854354
NM_001017995.3(SH3PXD2B):c.969del (p.Arg324fs)	rs794728006
NM_001020658.2(PUM1):c.3439C>T (p.Arg1147Trp)	rs1557539450
NM_001022.4(RPS19):c.184C>T (p.Arg62Trp)	rs104894711
NM_001022.4(RPS19):c.380G>A (p.Gly127Glu)	rs786200936
NM_001024630.4(RUNX2):c.524T>G (p.Met175Arg)	rs104893989
NM_001025295.3(IFITM5):c.-14C>T	rs587776916
NM_001025295.3(IFITM5):c.119C>G (p.Ser40Trp)	rs786201032
NM_001029871.4(RSPO4):c.98dup (p.Asn34fs)	rs768138495
NM_001031710.3(KLHL7):c.178GTT[1] (p.Val61del)	rs1554286093
NM_001031710.3(KLHL7):c.458C>T (p.Ala153Val)	rs137853113
NM_001031725.6(DDX59):c.1100T>G (p.Val367Gly)	rs587777067
NM_001031725.6(DDX59):c.1600G>A (p.Gly534Arg)	rs886037652
NM_001031725.6(DDX59):c.185del (p.Phe62fs)	rs773114666
NM_001031726.4(C19orf12):c.164_166delGGG	rs398122409
NM_001032.5(RPS29):c.149T>C (p.Ile50Thr)	rs587777569
NM_001032221.6(STXBP1):c.847G>A (p.Glu283Lys)	rs587777310
NM_001032382.2(PQBP1):c.334_354del (p.Gly113_Arg119del)	rs606231198
NM_001032386.2(SUOX):c.1589G>A (p.Gly530Asp)	rs121908009
NM_001032386.2(SUOX):c.520del (p.Asp174fs)	rs1565798380
NM_001032386.2(SUOX):c.794C>A (p.Ala265Asp)	rs121908008
NM_001033044.4(GLUL):c.-13-2A>G	rs2101936731
NM_001033044.4(GLUL):c.1A>G (p.Met1Val)	rs1131691970
NM_001033855.3(DCLRE1C):c.1669dup (p.Thr557fs)	rs886037924
NM_001033855.3(DCLRE1C):c.780+1del	rs786205074
NM_001033855.3(DCLRE1C):c.917+1G>A	rs1564418254
NM_001034850.3(RETREG1):c.926C>G (p.Ser309Ter)	rs137852739
NM_001034853.2(RPGR):c.2426_2427del (p.Glu809fs)	rs730882261
NM_001035.3(RYR2):c.13957G>T (p.Val4653Phe)	rs121918604
NM_001037.5(SCN1B):c.449-2A>G	rs1600370558
NM_001037132.4(NRCAM):c.400T>C (p.Ser134Pro)	rs2153741176
NM_001037333.3(CYFIP2):c.259C>T (p.Arg87Cys)	rs1131692231
NM_001037333.3(CYFIP2):c.260G>C (p.Arg87Pro)	rs1554108163
NM_001037333.3(CYFIP2):c.260G>T (p.Arg87Leu)	rs1554108163
NM_001039213.4(CEACAM16):c.37G>T (p.Ala13Ser)	rs1198256157
NM_001039348.3(EFEMP1):c.418C>T (p.Arg140Trp)	rs756065296
NM_001040108.2(MLH3):c.885del (p.His296fs)	rs1431264077
NM_001040113.2(MYH11):c.5819del (p.Pro1940fs)	rs747392139
NM_001040142.2(SCN2A):c.2558G>A (p.Arg853Gln)	rs794727152
NM_001040142.2(SCN2A):c.3631G>A (p.Glu1211Lys)	rs387906684
NM_001040142.2(SCN2A):c.3956G>A (p.Arg1319Gln)	rs121917753
NM_001040142.2(SCN2A):c.4949T>C (p.Leu1650Pro)	rs1702008435
NM_001040436.3(YARS2):c.156C>G (p.Phe52Leu)	rs267607180
NM_001040716.2(PC):c.1351C>T (p.Arg451Cys)	rs113994143
NM_001042424.3(NSD2):c.4028del (p.Pro1343fs)	rs752037034
NM_001042432.2(CLN3):c.533+1G>C	rs386833728
NM_001042475.3(CEP85L):c.193G>A (p.Asp65Asn)	rs1774229245
NM_001042492.3(NF1):c.3104T>G (p.Met1035Arg)	rs137854553
NM_001042492.3(NF1):c.4236A>T (p.Arg1412Ser)	rs137854554
NM_001042492.3(NF1):c.5858T>C (p.Leu1953Pro)	rs199474792
NM_001042631.3(SDHAF1):c.170G>A (p.Gly57Glu)	rs1976655209
NM_001042646.3(TRAK1):c.1759dup (p.His587fs)	rs1559390743
NM_001042681.2(RERE):c.4304A>G (p.His1435Arg)	rs1553154130
NM_001042681.2(RERE):c.4307TCCACC[3] (p.1436LH[3])	rs1064793252
NM_001044385.3(TMEM237):c.1066dup (p.Gln356fs)	rs751952525
NM_001048174.2(MUTYH):c.1143_1144dup (p.Glu382fs)	rs587780078
NM_001048174.2(MUTYH):c.228C>A (p.Tyr76Ter)	rs121908380
NM_001065.4(TNFRSF1A):c.176G>C (p.Cys59Ser)	rs104895223
NM_001065.4(TNFRSF1A):c.362G>C (p.Arg121Pro)	rs4149584
NM_001069.3(TUBB2A):c.292G>A (p.Gly98Arg)	rs1064795334
NM_001070.5(TUBG1):c.275A>G (p.Tyr92Cys)	rs398123046
NM_001077365.2(POMT1):c.2113_2114del (p.Ser705fs)	rs587777819
NM_001077415.3(CRELD1):c.1128_1129del (p.Ala377fs)	rs753036307
NM_001077525.3(MTMR14):c.1007G>A (p.Arg336Gln)	rs121434509
NM_001079.4(ZAP70):c.1394G>A (p.Arg465His)	rs137853201
NM_001080.3(ALDH5A1):c.1014+723_1173+796del
NM_001080449.3(DNA2):c.1919C>T (p.Ser640Leu)	rs1590054876
NM_001080467.3(MYO5B):c.1966C>T (p.Arg656Cys)	rs121908105
NM_001080467.3(MYO5B):c.2470C>T (p.Arg824Cys)	rs777038090
NM_001080477.4(TENM3):c.4046C>G (p.Ala1349Gly)	rs1243762658
NM_001080517.3(SETD5):c.3856del (p.Ser1286fs)	rs587777329
NM_001081550.2(THOC2):c.1550A>G (p.Tyr517Cys)	rs1556036052
NM_001081550.2(THOC2):c.1996A>G (p.Asn666Asp)	rs1603255389
NM_001081550.2(THOC2):c.229C>T (p.Arg77Cys)	rs1556302160
NM_001081550.2(THOC2):c.3559C>T (p.His1187Tyr)	rs1556014935
NM_001081550.2(THOC2):c.4450-2A>G	rs1556005930
NM_001083619.3(GRIA2):c.1582C>A (p.Pro528Thr)	rs1735294501
NM_001083619.3(GRIA2):c.1825G>A (p.Gly609Arg)	rs1735303754
NM_001083619.3(GRIA2):c.1831G>A (p.Asp611Asn)	rs1553956958
NM_001083619.3(GRIA2):c.1915G>T (p.Ala639Ser)	rs1579377564
NM_001083619.3(GRIA2):c.905A>G (p.Asp302Gly)	rs1735116193
NM_001083962.2(TCF4):c.1739G>A (p.Arg580Gln)	rs121909121
NM_001085.5(SERPINA3):c.1247_1248del (p.Lys416fs)	rs750702304
NM_001098.3(ACO2):c.1819C>T (p.Arg607Cys)	rs864309499
NM_001098.3(ACO2):c.1894G>A (p.Val632Met)	rs1601933371
NM_001098.3(ACO2):c.1981G>A (p.Gly661Arg)	rs752034900
NM_001098.3(ACO2):c.2338_2339del (p.Gln780fs)	rs1114167284
NM_001098.3(ACO2):c.487G>T (p.Val163Leu)	rs759920667
NM_001098621.4(LYSET):c.197dup (p.Tyr66Ter)	rs1291335611
NM_001099271.2(POC5):c.304_305del (p.Thr101_Asp102insTer)	rs1561480377
NM_001099857.5(IKBKG):c.1117+5G>C	rs1557236796
NM_001099857.5(IKBKG):c.944A>C (p.Glu315Ala)	rs137853331
NM_001099922.3(ALG13):c.2458-15_2486del	rs770762084
NM_001100.4(ACTA1):c.1074G>T (p.Trp358Cys)	rs587777354
NM_001100.4(ACTA1):c.49G>C (p.Gly17Arg)	rs121909521
NM_001100913.3(PACS2):c.625G>A (p.Glu209Lys)	rs1555408401
NM_001101.5(ACTB):c.1097dup (p.Ser368fs)	rs1554329078
NM_001101362.3(KBTBD13):c.1170G>C (p.Lys390Asn)	rs1364598710
NM_001101362.3(KBTBD13):c.742C>A (p.Arg248Ser)	rs200549195
NM_001101426.4(CRPPA):c.1105GTT[3] (p.Val372del)	rs587777798
NM_001102564.3(IFT43):c.520T>C (p.Trp174Arg)	rs1555369050
NM_001103.4(ACTN2):c.1459T>C (p.Cys487Arg)	rs1572140109
NM_001103.4(ACTN2):c.2180T>G (p.Leu727Arg)	rs1572148902
NM_001103.4(ACTN2):c.2194_2226del (p.Ala732_Ile742del)	rs1572148914
NM_001103.4(ACTN2):c.332G>T (p.Gly111Val)	rs786204949
NM_001103.4(ACTN2):c.392T>C (p.Leu131Pro)	rs1572114611
NM_001105537.3(ZNF142):c.[4183delC;4185G>A]
NM_001105558.1(WEE2):c.224_227del (p.Glu75fs)	rs768323979
NM_001109878.2(TBX22):c.166G>T (p.Glu56Ter)	rs104894945
NM_001110556.2(FLNA):c.3562G>A (p.Ala1188Thr)	rs28935472
NM_001110556.2(FLNA):c.3596C>T (p.Ser1199Leu)	rs28935473
NM_001110556.2(FLNA):c.4660G>A (p.Gly1554Arg)	rs1603360542
NM_001110792.2(MECP2):c.1193_1233del (p.Leu398fs)	rs267608327
NM_001110792.2(MECP2):c.1196_1236del (p.Pro399fs)	rs267608592
NM_001110792.2(MECP2):c.1197_1436del (p.Pro400_Pro479del)	rs1557134946
NM_001110792.2(MECP2):c.30delinsGA (p.Ser10fs)	rs786205040
NM_001110792.2(MECP2):c.334C>G (p.Leu112Val)	rs28935168
NM_001110792.2(MECP2):c.352C>T (p.Arg118Trp)	rs28934907
NM_001110792.2(MECP2):c.433C>T (p.Arg145Cys)	rs28934904
NM_001110792.2(MECP2):c.500T>C (p.Phe167Ser)	rs28934905
NM_001110792.2(MECP2):c.509C>T (p.Thr170Met)	rs28934906
NM_001110792.2(MECP2):c.5C>T (p.Ala2Val)	rs179363901
NM_001110792.2(MECP2):c.799C>T (p.Arg267Ter)	rs61749721
NM_001110792.2(MECP2):c.916C>T (p.Arg306Ter)	rs61751362
NM_001111.5(ADAR):c.2608G>A (p.Ala870Thr)	rs398122893
NM_001111.5(ADAR):c.2615T>C (p.Ile872Thr)	rs398122897
NM_001111.5(ADAR):c.2675G>A (p.Arg892His)	rs398122892
NM_001111.5(ADAR):c.2997G>T (p.Lys999Asn)	rs398122896
NM_001111.5(ADAR):c.3019G>A (p.Gly1007Arg)	rs398122822
NM_001111.5(ADAR):c.3335A>T (p.Tyr1112Phe)	rs398122895
NM_001111.5(ADAR):c.3337G>C (p.Asp1113His)	rs398122894
NM_001111067.4(ACVR1):c.983G>A (p.Gly328Glu)	rs387906589
NM_001111125.3(IQSEC2):c.1075C>T (p.Arg359Cys)	rs267607188
NM_001111125.3(IQSEC2):c.804del (p.Tyr269fs)	rs886041481
NM_001114748.2(TMEM240):c.509C>T (p.Pro170Leu)	rs606231451
NM_001114753.3(ENG):c.360+4A>G	rs1564457752
NM_001122681.2(SH3BP2):c.1253C>A (p.Pro418His)	rs121909146
NM_001122681.2(SH3BP2):c.1253C>T (p.Pro418Leu)	rs121909146
NM_001122681.2(SH3BP2):c.1259G>A (p.Gly420Glu)	rs28938171
NM_001122764.3(PPOX):c.502C>T (p.Arg168Cys)	rs121918325
NM_001126105.2(SLC7A7):c.1005_1008del (p.Phe335Leufs)	rs386833794
NM_001126108.2(SLC12A3):c.1763C>T (p.Ala588Val)	rs121909382
NM_001126108.2(SLC12A3):c.1964G>T (p.Arg655Leu)	rs121909380
NM_001126128.2(PROK2):c.297dup (p.Gly100fs)	rs768413190
NM_001127173.3(CADM3):c.413A>G (p.Tyr138Cys)	rs2102125471
NM_001127178.3(PIGG):c.2088G>C (p.Glu696Asp)	rs1203666288
NM_001127222.2(CACNA1A):c.2134G>A (p.Ala712Thr)	rs886037945
NM_001127222.2(CACNA1A):c.4466T>C (p.Phe1489Ser)	rs121908233
NM_001127222.2(CACNA1A):c.4633C>T (p.Arg1545Ter)	rs121909324
NM_001127222.2(CACNA1A):c.4979G>A (p.Arg1660His)	rs121908216
NM_001127255.2(NLRP7):c.2227G>A (p.Glu743Lys)
NM_001127392.3(MYRF):c.2084G>A (p.Arg695His)	rs1382225004
NM_001127453.2(GSDME):c.1102C>G (p.Gln368Glu)	rs2128047712
NM_001127511.3(APC):c.-192A>T	rs879253784
NM_001127649.3(PEX26):c.265G>A (p.Gly89Arg)	rs28940308
NM_001127671.2(LIFR):c.171_174del (p.Asn58fs)	rs1561179853
NM_001127898.4(CLCN5):c.2320C>T (p.Arg774Ter)	rs151340624
NM_001128148.3(TFRC):c.58T>C (p.Tyr20His)	rs863225436
NM_001128431.4(SLC39A14):c.751-9C>G	rs1039778197
NM_001129820.2(SLFN14):c.652A>G (p.Lys218Glu)	rs869320716
NM_001129820.2(SLFN14):c.657A>T (p.Lys219Asn)	rs869320715
NM_001129820.2(SLFN14):c.659T>A (p.Val220Asp)	rs869320714
NM_001130004.2(ACTN1):c.2255G>A (p.Arg752Gln)	rs387907347
NM_001130144.3(LTBP3):c.2087C>G (p.Ser696Cys)	rs1554974135
NM_001130438.3(SPTAN1):c.55C>T (p.Arg19Trp)	rs748232676
NM_001130438.3(SPTAN1):c.6241AAG[2] (p.Lys2083del)	rs1858669268
NM_001130438.3(SPTAN1):c.6616GAG[1] (p.Glu2207del)	rs587784438
NM_001130438.3(SPTAN1):c.6811G>A (p.Glu2271Lys)	rs1859859572
NM_001130438.3(SPTAN1):c.6899ACCAGCTGG[3] (p.2300DQL[3])	rs587784440
NM_001130438.3(SPTAN1):c.6917GCATGC[3] (p.Arg2308_Met2309dup)	rs796053335
NM_001130682.3(GUCY1A1):c.334_335del (p.Glu112fs)	rs781020381
NM_001130823.3(DNMT1):c.1531T>C (p.Tyr511His)	rs199473692
NM_001130823.3(DNMT1):c.1532A>G (p.Tyr511Cys)	rs199473690
NM_001130823.3(DNMT1):c.1814G>C (p.Gly605Ala)	rs397509393
NM_001130987.2(DYSF):c.1381-2A>G	rs786200897
NM_001130987.2(DYSF):c.2426C>G (p.Pro809Arg)	rs121908956
NM_001130987.2(DYSF):c.5174+5G>A	rs745891180
NM_001130987.2(DYSF):c.5546G>A (p.Arg1849Lys)	rs786205084
NM_001134232.2(TMEM106B):c.754G>A (p.Asp252Asn)	rs1554310600
NM_001134407.3(GRIN2A):c.1007+1G>A	rs397518465
NM_001134407.3(GRIN2A):c.1123-2A>G	rs397518469
NM_001134407.3(GRIN2A):c.1553G>A (p.Arg518His)	rs397518470
NM_001134407.3(GRIN2A):c.1592C>T (p.Thr531Met)	rs397518468
NM_001134407.3(GRIN2A):c.1845C>A (p.Asn615Lys)	rs397518447
NM_001134407.3(GRIN2A):c.1945C>G (p.Leu649Val)	rs397514557
NM_001134407.3(GRIN2A):c.1954T>G (p.Phe652Val)	rs397518471
NM_001134407.3(GRIN2A):c.2041C>T (p.Arg681Ter)	rs397518472
NM_001134407.3(GRIN2A):c.2T>C (p.Met1Thr)	rs397518466
NM_001134407.3(GRIN2A):c.652C>T (p.Gln218Ter)	rs387906637
NM_001134831.2(AHI1):c.1328T>A (p.Val443Asp)	rs121434350
NM_001134831.2(AHI1):c.2282C>T (p.Ser761Leu)	rs794727174
NM_001135254.2(PAX7):c.220C>T (p.Arg74Ter)	rs1176071790
NM_001135629.3(PPP1R21):c.763del (p.Ile255fs)	rs2528877481
NM_001135649.3(FOXI3):c.706C>T (p.Arg236Trp)	rs1675993398
NM_001135651.3(EIF2AK2):c.1382C>G (p.Ser461Cys)	rs1572996700
NM_001135651.3(EIF2AK2):c.31A>C (p.Met11Leu)	rs1363544084
NM_001135651.3(EIF2AK2):c.325G>T (p.Ala109Ser)	rs1675334390
NM_001135651.3(EIF2AK2):c.388G>A (p.Gly130Arg)	rs2148705154
NM_001135651.3(EIF2AK2):c.388G>C (p.Gly130Arg)	rs2148705154
NM_001135651.3(EIF2AK2):c.398A>T (p.Tyr133Phe)	rs1573029592
NM_001135651.3(EIF2AK2):c.95A>C (p.Asn32Thr)	rs1675604381
NM_001135651.3(EIF2AK2):c.95A>G (p.Asn32Ser)	rs1675604381
NM_001136472.2(LITAF):c.334G>A (p.Gly112Ser)	rs104894519
NM_001136472.2(LITAF):c.344C>A (p.Thr115Asn)	rs104894520
NM_001142.2(AMELX):c.431del (p.Pro144fs)	rs387906489
NM_001142569.3(INAVA):c.743A>T (p.Tyr248Phe)	rs41313912
NM_001142730.3(KCTD1):c.2009G>A (p.Gly670Asp)	rs587777003
NM_001142864.4(PIEZO1):c.5289C>G (p.Tyr1763Ter)	rs72811487
NM_001142864.4(PIEZO1):c.7219G>A (p.Glu2407Lys)	rs200291894
NM_001142864.4(PIEZO1):c.7219G>C (p.Glu2407Gln)	rs200291894
NM_001142966.3(GREB1L):c.3295C>T (p.Gln1099Ter)	rs1555659101
NM_001142966.3(GREB1L):c.3970-20A>G	rs1353636049
NM_001142966.3(GREB1L):c.4700T>C (p.Leu1567Pro)	rs1555662061
NM_001142966.3(GREB1L):c.5068G>A (p.Val1690Met)	rs1555663997
NM_001143986.2(TLE6):c.1529C>A (p.Ser510Tyr)	rs767222404
NM_001144967.3(NEDD4L):c.623G>A (p.Arg208Gln)	rs2059194330
NM_001145026.2(PTPRQ):c.6881G>A (p.Trp2294Ter)	rs1555214288
NM_001145073.3(USP27X):c.1205dup (p.Ala403fs)	rs2519167657
NM_001145073.3(USP27X):c.431A>G (p.Tyr144Cys)	rs2519167041
NM_001145165.2(DOHH):c.654_655insAACC (p.Glu219fs)	rs761870531
NM_001145252.3(CFP):c.298C>T (p.Arg100Trp)	rs132630259
NM_001145304.2(IQCN):c.910C>T (p.Gln304Ter)	rs2512743108
NM_001145319.2(PLS1):c.805G>A (p.Glu269Lys)	rs1577888985
NM_001145358.2(SIN3A):c.2955_2956del (p.Glu985fs)	rs886037847
NM_001146079.2(CLDN14):c.694G>A (p.Gly232Arg)	rs786204841
NM_001159390.2(GUK1):c.61+1G>T
NM_001159699.2(FHL1):c.505T>C (p.Cys169Arg)	rs122458144
NM_001159699.2(FHL1):c.720C>G (p.Cys240Trp)	rs122458141
NM_001159773.2(CANT1):c.374G>A (p.Trp125Ter)	rs267606702
NM_001159773.2(CANT1):c.902_906dup (p.Ser303fs)	rs587776895
NM_001161.5(NUDT2):c.407AAG[1] (p.Glu137del)	rs1355517127
NM_001161352.2(KCNMA1):c.1123G>A (p.Gly375Arg)	rs1554829003
NM_001161352.2(KCNMA1):c.3158A>G (p.Asn1053Ser)	rs886039469
NM_001161748.2(LIM2):c.388C>T (p.Arg130Cys)	rs1568480054
NM_001162498.3(LPAR6):c.373_374del (p.Lys125fs)	rs1566212378
NM_001162498.3(LPAR6):c.436G>A (p.Gly146Arg)	rs121434308
NM_001162498.3(LPAR6):c.463C>T (p.Gln155Ter)	rs121434306
NM_001163435.3(TBCK):c.1532G>A (p.Arg511His)	rs869320711
NM_001163692.2(UBAP1L):c.910-7G>A
NM_001164277.2(SLC37A4):c.1124+3_1124+6del	rs782612223
NM_001164277.2(SLC37A4):c.703GTG[1] (p.Val236del)	rs121908977
NM_001164277.2(SLC37A4):c.923_934dup (p.Met308_Met311dup)	rs786204477
NM_001164760.2(PRKAR1B):c.586G>A (p.Glu196Lys)	rs76344857
NM_001164811.2(PET117):c.172C>T (p.Gln58Ter)	rs2037617604
NM_001165963.4(SCN1A):c.664C>T (p.Arg222Ter)	rs121918624
NM_001166114.2(PNPLA6):c.2489G>A (p.Gly830Glu)	rs587777185
NM_001167.4(XIAP):c.1045GAG[1] (p.Glu350del)	rs199683465
NM_001170629.2(CHD8):c.7112dup (p.Asn2371fs)	rs751094013
NM_001171.6(ABCC6):c.1088_1120del (p.Gln363_Arg373del)	rs387906353
NM_001171.6(ABCC6):c.1967_1989del (p.Gly656fs)	rs74315130
NM_001171.6(ABCC6):c.3712G>C (p.Asp1238His)	rs63749796
NM_001171155.2(PET100):c.142C>T (p.Gln48Ter)	rs587779779
NM_001172509.2(SATB2):c.1165C>T (p.Arg389Cys)	rs1057521083
NM_001173467.3(SP7):c.946C>T (p.Arg316Cys)	rs1565789682
NM_001173990.3(TMEM216):c.218G>A (p.Arg73His)	rs201108965
NM_001173990.3(TMEM216):c.230G>C (p.Gly77Ala)	rs386833830
NM_001173990.3(TMEM216):c.341T>G (p.Leu114Arg)	rs386833831
NM_001174089.2(SLC4A11):c.589T>C (p.Ser197Pro)	rs121909395
NM_001174150.2(ARL13B):c.598C>T (p.Arg200Cys)	rs121912608
NM_001177316.2(SLC34A3):c.1058G>T (p.Arg353Leu)	rs121918234
NM_001177316.2(SLC34A3):c.1238C>A (p.Ala413Glu)	rs121918235
NM_001177316.2(SLC34A3):c.1402C>T (p.Arg468Trp)	rs121918238
NM_001177316.2(SLC34A3):c.925+20_926-48del	rs1554784044
NM_001182.5(ALDH7A1):c.1597del (p.Ala533fs)	rs387906574
NM_001182.5(ALDH7A1):c.902A>T (p.Asn301Ile)	rs121912711
NM_001183.6(ATP6AP1):c.1036G>A (p.Glu346Lys)	rs878853277
NM_001183.6(ATP6AP1):c.289-233C>T	rs2523016325
NM_001183.6(ATP6AP1):c.932T>A (p.Leu311Gln)	rs1603384499
NM_001184880.2(PCDH19):c.1671C>G (p.Asn557Lys)	rs267606933
NM_001189.4(NKX3-2):c.507_508del (p.Gly171fs)	rs1560165127
NM_001190737.2(NFIB):c.265C>T (p.Arg89Ter)	rs764333096
NM_001190737.2(NFIB):c.376A>G (p.Lys126Glu)	rs1554709662
NM_001190737.2(NFIB):c.395T>C (p.Leu132Pro)	rs1554709654
NM_001194.4(HCN2):c.2144CGC[4] (p.Pro719_Pro721del)	rs527536363
NM_001195248.2(APTX):c.668T>C (p.Leu223Pro)	rs267606665
NM_001195263.2(PDZD7):c.1500C>A (p.Tyr500Ter)	rs953422571
NM_001195263.2(PDZD7):c.197G>T (p.Arg66Leu)	rs1426679303
NM_001195263.2(PDZD7):c.2107del (p.Ser703fs)	rs397516633
NM_001195263.2(PDZD7):c.307G>C (p.Gly103Arg)	rs148695069
NM_001195263.2(PDZD7):c.854T>G (p.Met285Arg)	rs1554835827
NM_001195553.2(DCX):c.184G>A (p.Asp62Asn)	rs104894779
NM_001195553.2(DCX):c.574C>T (p.Arg192Trp)	rs104894780
NM_001195553.2(DCX):c.808+1G>A	rs1921403332
NM_001198533.2(OXR1):c.2317-1G>C	rs1333855063
NM_001198800.3(ASCC1):c.157dup (p.Glu53fs)	rs753324947
NM_001199198.3(TBC1D23):c.1687+2T>A	rs1553731605
NM_001199563.2(POPDC1):c.457C>T (p.Gln153Ter)	rs1562137622
NM_001199563.2(POPDC1):c.602C>T (p.Ser201Phe)	rs869025337
NM_001204077.2(UBE4A):c.1185_1186del (p.Lys396fs)	rs1565532385
NM_001204375.2(NPR3):c.1088A>T (p.Asp363Val)	rs1741953064
NM_001204375.2(NPR3):c.442T>C (p.Ser148Pro)	rs1433125500
NM_001205293.3(CACNA1E):c.1054G>A (p.Gly352Arg)	rs886039323
NM_001205293.3(CACNA1E):c.2104G>A (p.Ala702Thr)	rs12131800
NM_001206744.2(TPO):c.2421dup (p.Cys808fs)	rs760307139
NM_001206999.2(CIT):c.29_38del (p.Asn10fs)	rs879253817
NM_001220.5(CAMK2B):c.416C>T (p.Pro139Leu)	rs1554389088
NM_001231.5(CASQ1):c.731A>G (p.Asp244Gly)	rs730882052
NM_001235.5(SERPINH1):c.710T>C (p.Met237Thr)	rs886039819
NM_001242882.2(NAXD):c.46G>A (p.Val16Ile)	rs1886017898
NM_001243133.2(NLRP3):c.1316C>T (p.Ala439Val)	rs121908146
NM_001243133.2(NLRP3):c.1705G>C (p.Gly569Arg)	rs121908151
NM_001243279.3(ACSF3):c.1073C>T (p.Thr358Ile)	rs387907120
NM_001243279.3(ACSF3):c.593T>G (p.Met198Arg)	rs387907121
NM_001244008.2(KIF1A):c.1894C>T (p.Gln632Ter)	rs2050749062
NM_001244008.2(KIF1A):c.206C>T (p.Ser69Leu)	rs786200949
NM_001244008.2(KIF1A):c.4278C>G (p.Tyr1426Ter)	rs572662012
NM_001244008.2(KIF1A):c.595G>A (p.Gly199Arg)	rs1553638614
NM_001244008.2(KIF1A):c.604G>C (p.Ala202Pro)	rs672601366
NM_001244008.2(KIF1A):c.643A>C (p.Ser215Arg)	rs672601367
NM_001244008.2(KIF1A):c.647G>A (p.Arg216His)	rs672601368
NM_001244008.2(KIF1A):c.761G>A (p.Arg254Gln)	rs886041692
NM_001244008.2(KIF1A):c.920G>C (p.Arg307Pro)	rs1064793161
NM_001244710.2(GFPT1):c.43A>G (p.Thr15Ala)	rs387906638
NM_001253852.3(AP4B1):c.1160_1161del (p.Thr387fs)	rs587779388
NM_001256317.3(TMPRSS3):c.208del (p.His70fs)	rs727503493
NM_001256317.3(TMPRSS3):c.323-6G>A	rs374793617
NM_001257096.2(PAX1):c.1169_1173dup (p.Pro392fs)	rs1555804780
NM_001257180.2(SLC20A2):c.1723G>A (p.Glu575Lys)	rs387906653
NM_001257180.2(SLC20A2):c.1802C>T (p.Ser601Leu)	rs387906652
NM_001257291.2(SLC9A7):c.1543C>T (p.Leu515Phe)	rs1569507511
NM_001258392.3(CLPB):c.1591C>T (p.Arg531Trp)	rs1949512456
NM_001258392.3(CLPB):c.1592G>A (p.Arg531Gln)	rs1590753221
NM_001267052.2(UNC45B):c.2255+5G>C	rs2092244236
NM_001270601.2(ASCL5):c.274G>A (p.Glu92Lys)
NM_001271696.3(ABCB7):c.2021A>G (p.Asp674Gly)	rs762876355
NM_001276270.2(MBD4):c.612_615del (p.Ser205fs)	rs1559801181
NM_001276309.3(NOL3):c.61G>C (p.Glu21Gln)	rs397514600
NM_001276345.2(TNNT2):c.421C>T (p.Arg141Trp)	rs74315380
NM_001276345.2(TNNT2):c.650AGA[3] (p.Lys220del)	rs45578238
NM_001276345.2(TNNT2):c.838G>A (p.Asp280Asn)	rs121964861
NM_001276345.2(TNNT2):c.851+1G>A	rs111377893
NM_001277.3(CHKA):c.1021T>C (p.Phe341Leu)	rs2134518071
NM_001277.3(CHKA):c.14dup (p.Cys6fs)	rs2153034844
NM_001277062.2(MFF):c.856T>C (p.Trp286Arg)	rs2076297587
NM_001277115.2(DNAH11):c.13531_*36del (p.Ala4511_Ter4517del)	rs1554294478
NM_001277115.2(DNAH11):c.6506C>A (p.Ser2169Ter)	rs373946181
NM_001278116.2(L1CAM):c.3581C>T (p.Ser1194Leu)	rs137852522
NM_001278293.3(ARL6):c.266C>T (p.Ala89Val)	rs587777805
NM_001278431.2(C1QTNF5):c.489C>G (p.Ser163Arg)	rs111033578
NM_001278512.2(AP3B2):c.1182G>A (p.Lys394=)	rs1057519269
NM_001278689.2(EOGT):c.1074del (p.Gly359fs)	rs587776994
NM_001278716.2(FBXL4):c.1555C>T (p.Gln519Ter)	rs398123059
NM_001278716.2(FBXL4):c.1694A>G (p.Asp565Gly)	rs398123062
NM_001278716.2(FBXL4):c.1703G>C (p.Gly568Ala)	rs398123060
NM_001282531.3(ADNP):c.1222_1223del (p.Lys408fs)	rs1555810376
NM_001282531.3(ADNP):c.2156dup (p.Tyr719Ter)	rs1135401808
NM_001282531.3(ADNP):c.2491_2494del (p.Leu831fs)	rs587777522
NM_001282534.2(KCNK9):c.392G>A (p.Arg131His)	rs867543866
NM_001282534.2(KCNK9):c.710C>A (p.Ala237Asp)	rs1814677892
NM_001283.5(AP1S1):c.364dup (p.Asp122fs)	rs767358930
NM_001283009.2(RTEL1):c.2141+5G>A	rs398123050
NM_001283009.2(RTEL1):c.751G>A (p.Glu251Lys)	rs398123019
NM_001286.5(CLCN6):c.1658A>G (p.Tyr553Cys)	rs1644918844
NM_001286445.3(RIPOR2):c.1633_1644del (p.Gln545_Lys548del)	rs760676508
NM_001286704.2(UFM1):c.-273_-271del	rs747359907
NM_001287491.2(TET3):c.2552C>T (p.Thr851Met)	rs1573856970
NM_001288705.3(CSF1R):c.1969+115_1969+116del	rs1581289103
NM_001288705.3(CSF1R):c.2345G>A (p.Arg782His)	rs281860281
NM_001288705.3(CSF1R):c.2381T>C (p.Ile794Thr)	rs281860274
NM_001302084.2(TOP6BL):c.285dup (p.Glu96Ter)	rs779402951
NM_001303052.2(MYT1L):c.1706G>A (p.Arg569Gln)	rs878853045
NM_001303052.2(MYT1L):c.2221_2230del (p.Thr741fs)	rs1253072668
NM_001303256.3(MORC2):c.394C>T (p.Arg132Cys)	rs1064795559
NM_001303256.3(MORC2):c.707A>G (p.Glu236Gly)	rs886037934
NM_001303256.3(MORC2):c.71C>T (p.Thr24Ile)	rs1602510214
NM_001303256.3(MORC2):c.754C>T (p.Arg252Trp)	rs864309503
NM_001304360.2(CFAP74):c.4380_4381dup (p.Phe1461fs)	rs578234038
NM_001308.3(CPN1):c.734C>T (p.Thr245Met)
NM_001312673.2(PCYT1A):c.669G>C (p.Arg223Ser)	rs540053239
NM_001312673.2(PCYT1A):c.835GAG[1] (p.Glu280del)	rs771425372
NM_001312673.2(PCYT1A):c.990del (p.Ser331fs)	rs587777193
NM_001312909.2(FAM111A):c.1012A>G (p.Thr338Ala)	rs587777014
NM_001312909.2(FAM111A):c.1531T>C (p.Tyr511His)	rs587777012
NM_001312909.2(FAM111A):c.1579C>A (p.Pro527Thr)	rs587777015
NM_001312909.2(FAM111A):c.1583A>G (p.Asp528Gly)	rs587777013
NM_001312909.2(FAM111A):c.1706G>A (p.Arg569His)	rs587777011
NM_001317778.2(SFTPC):c.218T>C (p.Ile73Thr)	rs121917834
NM_001318852.2(MAPK8IP3):c.111C>G (p.Tyr37Ter)	rs770703007
NM_001318852.2(MAPK8IP3):c.1334T>C (p.Leu445Pro)	rs1567198751
NM_001318852.2(MAPK8IP3):c.1735C>T (p.Arg579Cys)	rs1567203083
NM_001318852.2(MAPK8IP3):c.3439C>T (p.Arg1147Cys)	rs1567214097
NM_001318852.2(MAPK8IP3):c.65del (p.Gly22fs)	rs1567128142
NM_001319074.4(RAX2):c.411CCCGGG[3] (p.138PG[3])	rs549932754
NM_001321075.3(DLG4):c.1543+2T>C	rs1597444614
NM_001321380.2(PIK3C2A):c.-75-13528T>G	rs1565287817
NM_001321759.2(CDIN1):c.281A>G (p.Tyr94Cys)	rs587777101
NM_001321759.2(CDIN1):c.533T>A (p.Leu178Gln)	rs587777100
NM_001321967.2(ATAD1):c.162G>C (p.Gln54His)	rs1554884979
NM_001322934.2(NFKB2):c.2594A>G (p.Asp865Gly)	rs727502787
NM_001322934.2(NFKB2):c.2600C>T (p.Ala867Val)	rs727502788
NM_001323289.2(CDKL5):c.163_166del (p.Glu55fs)	rs267608433
NM_001323289.2(CDKL5):c.2500C>T (p.Gln834Ter)	rs122460158
NM_001323289.2(CDKL5):c.2635_2636del (p.Leu879fs)	rs61753251
NM_001323289.2(CDKL5):c.455G>T (p.Cys152Phe)	rs122460157
NM_001323289.2(CDKL5):c.872G>A (p.Cys291Tyr)	rs267606714
NM_001326411.2(PISD):c.899G>A (p.Cys300Tyr)	rs2072505076
NM_001330260.2(SCN8A):c.3652G>A (p.Glu1218Lys)	rs1555226823
NM_001330260.2(SCN8A):c.5630A>G (p.Asn1877Ser)	rs587780455
NM_001330288.2(SMARCC2):c.1926+2T>C	rs1565903353
NM_001330700.2(TOP2B):c.1912G>A (p.Gly638Ser)	rs2125373730
NM_001346194.2(OXGR1):c.371T>G (p.Leu124Arg)	rs780034038
NM_001348716.2(KDM6B):c.1085_1088del (p.Glu362fs)	rs769566928
NM_001348716.2(KDM6B):c.3762_3764del (p.Asp1254del)	rs2544532079
NM_001348768.2(HECW2):c.4334A>G (p.Glu1445Gly)	rs878854424
NM_001348800.3(ZBTB20):c.1931C>T (p.Thr644Ile)	rs2550438450
NM_001349.4(DARS1):c.1379G>A (p.Arg460His)	rs587776985
NM_001349232.2(ATG7):c.1535T>C (p.Leu512Pro)	rs2152811539
NM_001349338.3(FOXP1):c.1540C>T (p.Arg514Cys)	rs869025203
NM_001352754.2(ARMC9):c.1027C>A (p.Arg343Ser)	rs759799287
NM_001353345.2(SETD1B):c.5653C>T (p.Arg1885Trp)	rs1876920040
NM_001353345.2(SETD1B):c.5833T>C (p.Phe1945Leu)	rs1877026127
NM_001353345.2(SETD1B):c.5842G>A (p.Glu1948Lys)	rs2137594297
NM_001353812.2(ATP11C):c.1244C>A (p.Thr415Asn)	rs1556323334
NM_001354483.2(CSGALNACT1):c.1294G>T (p.Asp432Tyr)	rs2054868908
NM_001354712.2(THRB):c.1324A>G (p.Met442Val)	rs121918691
NM_001354712.2(THRB):c.1373T>C (p.Val458Ala)	rs121918704
NM_001354712.2(THRB):c.994G>A (p.Gly332Arg)	rs28999969
NM_001356.5(DDX3X):c.1084C>T (p.Arg362Cys)	rs797045026
NM_001356.5(DDX3X):c.1126C>T (p.Arg376Cys)	rs796052231
NM_001356.5(DDX3X):c.1486G>A (p.Val496Met)	rs1555954154
NM_001358530.2(MOCS1):c.1027C>T (p.Arg343Ter)	rs746098961
NM_001358530.2(MOCS1):c.1508_1509del (p.Glu503fs)	rs397518419
NM_001360.3(DHCR7):c.356A>T (p.His119Leu)	rs28938174
NM_001360.3(DHCR7):c.730G>A (p.Gly244Arg)	rs121909764
NM_001360.3(DHCR7):c.964-1G>C	rs138659167
NM_001360016.2(G6PD):c.102CAT[2] (p.Ile36del)	rs137852338
NM_001360016.2(G6PD):c.1311= (p.Tyr437=)	rs2230037
NM_001363.5(DKC1):c.361A>G (p.Ser121Gly)	rs121912305
NM_001363118.2(SLC52A2):c.1255G>A (p.Gly419Ser)	rs397514658
NM_001364905.1(LRBA):c.6624_6625del (p.Glu2208fs)	rs727503779
NM_001365088.1(SLC12A6):c.1728CTT[1] (p.Phe578del)	rs2509782899
NM_001365088.1(SLC12A6):c.2023C>T (p.Arg675Ter)	rs121908428
NM_001365088.1(SLC12A6):c.2995_3004del (p.Gln999fs)	rs606231158
NM_001365088.1(SLC12A6):c.901del (p.Ile301fs)	rs606231157
NM_001365308.1(BMPER):c.410T>A (p.Val137Asp)	rs1554300601
NM_001365536.1(SCN9A):c.3019C>T (p.Arg1007Cys)	rs121908910
NM_001365536.1(SCN9A):c.721T>A (p.Ser241Thr)	rs80356470
NM_001365999.1(SZT2):c.4370TCT[1] (p.Phe1458del)	rs587777099
NM_001366145.2(TRPM3):c.3004G>A (p.Val1002Met)	rs1564493599
NM_001366521.1(ATP2B1):c.458G>A (p.Trp153Ter)	rs2136193860
NM_001367549.1(ATP13A3):c.2227C>T (p.Arg743Cys)	rs2108829926
NM_001367823.1(ARHGEF18):c.2181+5G>A	rs1064793002
NM_001367975.1(BTG4):c.73C>T (p.Gln25Ter)	rs1865886567
NM_001368067.1(LDB3):c.439G>A (p.Ala147Thr)	rs121908333
NM_001368397.1(FRMPD4):c.1657T>C (p.Cys553Arg)	rs886038209
NM_001368894.2(PAX6):c.10+5G>C	rs587776572
NM_001368894.2(PAX6):c.112C>T (p.Arg38Trp)	rs397514640
NM_001368894.2(PAX6):c.424C>T (p.Arg142Cys)	rs121907918
NM_001368894.2(PAX6):c.76C>G (p.Arg26Gly)	rs121907913
NM_001369268.1(ACAN):c.7255G>A (p.Asp2419Asn)	rs121913568
NM_001370259.2(MEN1):c.1087_1089del (p.Glu363del)	rs869025185
NM_001370259.2(MEN1):c.1306T>A (p.Trp436Arg)	rs104894259
NM_001370259.2(MEN1):c.65T>G (p.Leu22Arg)	rs104894256
NM_001370259.2(MEN1):c.763G>A (p.Glu255Lys)	rs104894268
NM_001370259.2(MEN1):c.76G>A (p.Glu26Lys)	rs28931612
NM_001370259.2(MEN1):c.784-9G>A	rs794728625
NM_001370298.3(FGD4):c.1081C>T (p.Arg361Ter)	rs118203972
NM_001370298.3(FGD4):c.1304T>C (p.Met435Thr)	rs63749871
NM_001370298.3(FGD4):c.1304T>G (p.Met435Arg)	rs63749871
NM_001370298.3(FGD4):c.2039_2040del (p.Glu680fs)	rs1565921326
NM_001370298.3(FGD4):c.2173-2A>G	rs281865065
NM_001370466.1(NOD2):c.1753G>A (p.Ala585Thr)	rs104895438
NM_001370466.1(NOD2):c.2641G>C (p.Gly881Arg)	rs2066845
NM_001370595.2(COA8):c.314T>C (p.Phe105Ser)	rs587777786
NM_001370658.1(BTD):c.1167_1181delinsTTCCAATGGCC (p.Trp389fs)	rs672601248
NM_001371596.2(MFSD8):c.362A>G (p.Tyr121Cys)	rs118203978
NM_001371596.2(MFSD8):c.881C>A (p.Thr294Lys)	rs140948465
NM_001371596.2(MFSD8):c.929G>A (p.Gly310Asp)	rs118203975
NM_001371928.1(AHDC1):c.4370A>G (p.Asp1457Gly)	rs1557655967
NM_001371986.1(UNC80):c.2033del (p.Asn678fs)	rs869025318
NM_001371986.1(UNC80):c.7805G>C (p.Arg2602Thr)	rs869025317
NM_001371986.1(UNC80):c.7955T>A (p.Leu2652Ter)	rs869025319
NM_001372051.1(CASP8):c.853G>C (p.Asp285His)	rs1045485
NM_001372066.1(TFAP2A):c.769A>G (p.Arg257Gly)	rs121909574
NM_001372123.1(IKZF5):c.286C>T (p.Arg96Trp)	rs2133384781
NM_001372123.1(IKZF5):c.355T>C (p.Ser119Pro)	rs1849295075
NM_001372123.1(IKZF5):c.401G>A (p.Gly134Glu)	rs2133379889
NM_001374623.1(PNPLA1):c.387C>A (p.Asp129Glu)	rs200806519
NM_001374736.1(DST):c.19345A>T (p.Lys6449Ter)	rs1562435373
NM_001374736.1(DST):c.608C>A (p.Ala203Glu)	rs201871537
NM_001374828.1(ARID1B):c.4479G>A (p.Pro1493=)	rs797045277
NM_001374828.1(ARID1B):c.5939_5942del (p.Lys1980fs)	rs886041706
NM_001375380.1(EBF3):c.422A>G (p.Tyr141Cys)	rs1057519519
NM_001375380.1(EBF3):c.530C>T (p.Pro177Leu)	rs869312668
NM_001375524.1(TRRAP):c.3127G>A (p.Ala1043Thr)	rs1562945106
NM_001376.5(DYNC1H1):c.917A>G (p.His306Arg)	rs387906738
NM_001377.3(DYNC2H1):c.5959A>G (p.Thr1987Ala)	rs137853035
NM_001377.3(DYNC2H1):c.624_625delinsAA (p.Phe209Ile)	rs431905498
NM_001377265.1(MAPT):c.2077C>T (p.Pro693Ser)	rs63751438
NM_001377295.2(GNAT2):c.461+24G>A	rs397515384
NM_001378183.1(PIEZO2):c.2134A>G (p.Met712Val)	rs587777453
NM_001378183.1(PIEZO2):c.4798C>T (p.Arg1600Ter)	rs886039822
NM_001378183.1(PIEZO2):c.8492G>C (p.Arg2831Pro)	rs587777452
NM_001378418.1(TCF20):c.310_313dup (p.Gln105fs)	rs1569154591
NM_001378452.1(ITPR1):c.4684G>A (p.Val1562Met)	rs397514535
NM_001378452.1(ITPR1):c.7660G>A (p.Gly2554Arg)	rs752281590
NM_001378454.1(ALMS1):c.8380C>T (p.Gln2794Ter)	rs193919338
NM_001378457.1(DMXL2):c.5827_5841del (p.Asp1943_Ser1947del)	rs606231461
NM_001378477.3(NYX):c.70_93del (p.Arg24_Ala31del)	rs281865194
NM_001378615.1(CC2D2A):c.3364C>T (p.Pro1122Ser)	rs118204051
NM_001378687.1(ATP2C1):c.1402C>T (p.Arg468Ter)	rs137853013
NM_001378743.1(CYLD):c.2155A>G (p.Met719Val)	rs1971438573
NM_001378778.1(MPDZ):c.5278G>A (p.Ala1760Thr)	rs1554644827
NM_001378969.1(KCND3):c.1174G>A (p.Val392Ile)	rs786205867
NM_001378974.1(FBXW11):c.1150C>T (p.Arg384Trp)	rs1758081729
NM_001378974.1(FBXW11):c.1154C>A (p.Ala385Asp)	rs1758081491
NM_001378974.1(FBXW11):c.787G>C (p.Gly263Arg)	rs1759346639
NM_001379029.1(CERT1):c.395C>T (p.Ser132Leu)	rs1064794019
NM_001379110.1(SLC9A6):c.370-9_370-5del	rs796053290
NM_001379270.1(CNGA1):c.947C>T (p.Ser316Phe)	rs62625014
NM_001379291.1(BRD4):c.1289A>G (p.Tyr430Cys)	rs2512579975
NM_001379291.1(BRD4):c.883A>C (p.Thr295Pro)	rs1405614933
NM_001379451.1(BCORL1):c.95C>T (p.Pro32Leu)	rs1603105985
NM_001379500.1(COL18A1):c.3013+3A>C	rs770631950
NM_001379610.1(SPINK1):c.41T>G (p.Leu14Arg)	rs104893939
NM_001379659.1(ZNF142):c.1417_1418del (p.Lys473fs)	rs1447313633
NM_001379659.1(ZNF142):c.1892del (p.Cys631fs)	rs1559296368
NM_001382.4(DPAGT1):c.85A>T (p.Ile29Phe)	rs397515328
NM_001382273.1(TNK2):c.1957G>A (p.Val653Met)	rs201407161
NM_001382567.1(STIM1):c.326A>G (p.His109Arg)	rs397514677
NM_001383.6(DPH1):c.686T>C (p.Leu229Pro)	rs730882250
NM_001384140.1(PCDH15):c.400C>G (p.Arg134Gly)	rs137853003
NM_001384359.1(FUT1):c.725T>G (p.Leu242Arg)	rs28934588
NM_001384474.1(LOXHD1):c.4714C>T (p.Arg1572Ter)	rs75949023
NM_001384732.1(CPLANE1):c.3290-2A>G	rs606231260
NM_001386135.1(AFF3):c.698C>T (p.Ala233Val)	rs2104734977
NM_001386393.1(PANK2):c.1082G>A (p.Ser361Asn)	rs137852963
NM_001387263.1(PATL2):c.784C>T (p.Arg262Ter)	rs1351320025
NM_001387263.1(PATL2):c.953T>C (p.Ile318Thr)	rs1011539285
NM_001388308.1(KIF12):c.1024G>A (p.Val342Met)	rs564811653
NM_001394783.1(CCR5):c.554_585del (p.Ser185fs)	rs333
NM_001394966.1(NEK10):c.1230+5G>C	rs1253689023
NM_001395891.1(CLASP1):c.196-562G>T	rs370715569
NM_001395891.1(CLASP1):c.196-570C>T	rs750325275
NM_001395891.1(CLASP1):c.196-607G>A	rs180755563
NM_001397406.1(FDX2):c.1A>T (p.Met1Leu)	rs587777600
NM_001397406.1(FDX2):c.422C>T (p.Pro141Leu)	rs888630930
NM_001399.5(EDA):c.466C>T (p.Arg156Cys)	rs132630313
NM_001415.4(EIF2S3):c.324T>A (p.Ser108Arg)	rs1057515578
NM_001424.6(EMP2):c.184C>T (p.Gln62Ter)	rs587777481
NM_001429.3(EP300):c.3857A>G	rs1555910821
NM_001437.3(ESR2):c.541_543del (p.Asn181del)	rs750091675
NM_001453.3(FOXC1):c.388C>T (p.Leu130Phe)	rs121909338
NM_001470.4(GABBR1):c.1190C>T (p.Ala397Val)	rs2483298866
NM_001478.5(B4GALNT1):c.1298A>C (p.Asp433Ala)	rs879255242
NM_001478.5(B4GALNT1):c.263dup (p.Leu89fs)	rs745744124
NM_001482.3(GATM):c.446G>A (p.Trp149Ter)	rs80338737
NM_001482.3(GATM):c.608A>C (p.Tyr203Ser)	rs397514709
NM_001540.5(HSPB1):c.544C>T (p.Pro182Ser)	rs104894020
NM_001543.5(NDST1):c.1918T>C (p.Phe640Leu)	rs606231458
NM_001558.4(IL10RA):c.301C>T (p.Arg101Trp)	rs368287711
NM_001561.6(TNFRSF9):c.325G>A (p.Gly109Ser)	rs2527270851
NM_001563.4(IMPG1):c.1736T>C (p.Leu579Pro)	rs1782008883
NM_001563.4(IMPG1):c.1824+1G>A	rs770887047
NM_001563.4(IMPG1):c.1838T>C (p.Leu613Pro)	rs1781948884
NM_001567.4(INPPL1):c.545C>A (p.Ser182Ter)	rs397514509
NM_001572.5(IRF7):c.1228T>G (p.Phe410Val)	rs786205223
NM_001605.3(AARS1):c.211A>T (p.Asn71Tyr)	rs387906792
NM_001605.3(AARS1):c.986G>A (p.Arg329His)	rs267606621
NM_001606.5(ABCA2):c.4903del (p.Val1635fs)	rs1588511352
NM_001611.5(ACP5):c.602T>C (p.Leu201Pro)	rs387906672
NM_001611.5(ACP5):c.772_790del (p.Ser258fs)	rs878853218
NM_001614.5(ACTG1):c.353A>T (p.Lys118Met)	rs104894544
NM_001614.5(ACTG1):c.721G>A (p.Glu241Lys)	rs267606631
NM_001614.5(ACTG1):c.760C>T (p.Arg254Trp)	rs281875328
NM_001615.4(ACTG2):c.400T>A (p.Tyr134Asn)	rs587777388
NM_001615.4(ACTG2):c.443G>T (p.Arg148Leu)	rs730880256
NM_001625.4(AK2):c.307C>T (p.Arg103Trp)	rs267606648
NM_001655.5(ARCN1):c.654-15A>G	rs1591385240
NM_001658.4(ARF1):c.296G>A (p.Arg99His)	rs1558087712
NM_001673.5(ASNS):c.1084T>G (p.Phe362Val)	rs398122973
NM_001673.5(ASNS):c.17C>A (p.Ala6Glu)	rs398122975
NM_001696.4(ATP6V1E1):c.634C>T (p.Arg212Trp)	rs1028534806
NM_001711.6(BGN):c.5G>A (p.Trp2Ter)	rs886037823
NM_001711.6(BGN):c.908A>C (p.Gln303Pro)	rs886037824
NM_001734.5(C1S):c.880T>C (p.Cys294Arg)	rs886040975
NM_001734.5(C1S):c.945_947del (p.Asp315_Val316delinsGlu)	rs886040974
NM_001737.5(C9):c.162C>A (p.Cys54Ter)	rs34000044
NM_001744.6(CAMK4):c.981+1G>A	rs1561515242
NM_001754.5(RUNX1):c.400G>C (p.Ala134Pro)	rs74315451
NM_001759.4(CCND2):c.839C>A (p.Thr280Asn)	rs587777620
NM_001776.6(ENTPD1):c.574-6_574-3del	rs1412393736
NM_001783.4(CD79A):c.379+1G>A	rs1555843601
NM_001791.4(CDC42):c.191A>G (p.Tyr64Cys)	rs864309721
NM_001791.4(CDC42):c.242G>T (p.Cys81Phe)	rs1553196100
NM_001807.6(CEL):c.1776del (p.Val593fs)	rs193922638
NM_001813.3(CENPE):c.2797G>A (p.Asp933Asn)	rs144716013
NM_001822.7(CHN1):c.754C>T (p.Pro252Ser)	rs387906600
NM_001829.4(CLCN3):c.1709C>T (p.Thr570Ile)	rs1732900321
NM_001829.4(CLCN3):c.1820T>C (p.Ile607Thr)	rs2150267036
NM_001844.5(COL2A1):c.1060G>A (p.Gly354Arg)	rs121912871
NM_001844.5(COL2A1):c.1693C>T (p.Arg565Cys)	rs121912884
NM_001844.5(COL2A1):c.2965C>T (p.Arg989Cys)	rs121912874
NM_001848.3(COL6A1):c.1056+1G>A	rs398123631
NM_001854.4(COL11A1):c.1630-2del	rs1057517989
NM_001863.5(COX6B1):c.58C>T (p.Arg20Cys)	rs778740017
NM_001875.5(CPS1):c.2945G>A (p.Gly982Asp)	rs121912595
NM_001875.5(CPS1):c.3031GTG[2] (p.Val1013del)	rs727502824
NM_001875.5(CPS1):c.4101+2T>C	rs767575696
NM_001875.5(CPS1):c.840G>C (p.Lys280Asn)	rs753751183
NM_001876.4(CPT1A):c.1241C>T (p.Ala414Val)	rs80356790
NM_001876.4(CPT1A):c.1493A>G (p.Tyr498Cys)	rs80356791
NM_001876.4(CPT1A):c.1876-1G>A	rs80356798
NM_001876.4(CPT1A):c.298C>T (p.Gln100Ter)	rs80356774
NM_001887.4(CRYBB1):c.171del (p.Asn58fs)	rs1064793935
NM_001887.4(CRYBB1):c.757T>C (p.Ter253Arg)	rs1114167432
NM_001904.4(CTNNB1):c.121A>G (p.Thr41Ala)	rs121913412
NM_001913.5(CUX1):c.61C>T (p.Gln21Ter)	rs1562875556
NM_001923.5(DDB1):c.637G>A (p.Glu213Lys)	rs2134934938
NM_001927.4(DES):c.1009G>C (p.Ala337Pro)	rs59962885
NM_001927.4(DES):c.1094ACA[1] (p.Asn366del)	rs58687088
NM_001927.4(DES):c.1216C>T (p.Arg406Trp)	rs121913003
NM_001927.4(DES):c.1353C>G (p.Ile451Met)	rs121913002
NM_001930.4(DHPS):c.912_917del (p.Tyr305_Ile306del)	rs1568317152
NM_001931.5(DLAT):c.470T>G (p.Val157Gly)	rs797044957
NM_001943.5(DSG2):c.2434G>T (p.Gly812Cys)	rs121913010
NM_001943.5(DSG2):c.918G>A (p.Trp306Ter)	rs121913007
NM_001946.4(DUSP6):c.229T>A (p.Phe77Ile)	rs587776978
NM_001953.5(TYMP):c.1187CGCTGG[1] (p.Ala398_Leu399del)	rs786205098
NM_001970.5(EIF5A):c.325C>T (p.Arg109Ter)	rs2143009613
NM_001982.4(ERBB3):c.2359A>C (p.Thr787Pro)	rs2136818517
NM_001982.4(ERBB3):c.2695G>A (p.Val899Met)	rs2136822199
NM_001987.5(ETV6):c.641C>T (p.Pro214Leu)	rs724159947
NM_001999.4(FBN2):c.3758G>A (p.Cys1253Tyr)	rs137852825
NM_002016.2(FLG):c.1501C>T (p.Arg501Ter)	rs61816761
NM_002016.2(FLG):c.2282_2285del (p.Ser761fs)	rs558269137
NM_002017.5(FLI1):c.1009C>T (p.Arg337Trp)	rs1064797083
NM_002017.5(FLI1):c.1028A>G (p.Tyr343Cys)	rs1064797084
NM_002047.4(GARS1):c.374A>G (p.Glu125Gly)	rs137852645
NM_002047.4(GARS1):c.880G>C (p.Gly294Arg)	rs137852643
NM_002047.4(GARS1):c.893C>T (p.Pro298Leu)	rs137852648
NM_002049.4(GATA1):c.2T>C (p.Met1Thr)	rs587776451
NM_002055.5(GFAP):c.236G>A (p.Arg79His)	rs59285727
NM_002063.4(GLRA2):c.754C>T (p.Arg252Cys)	rs748764171
NM_002067.5(GNA11):c.542G>A (p.Arg181Gln)	rs587777020
NM_002069.6(GNAI1):c.118G>T (p.Gly40Cys)	rs2116052322
NM_002070.4(GNAI2):c.535C>T (p.Arg179Cys)	rs137853226
NM_002072.5(GNAQ):c.548G>A (p.Arg183Gln)	rs397514698
NM_002074.5(GNB1):c.233A>G (p.Lys78Arg)	rs869312823
NM_002074.5(GNB1):c.239T>C (p.Ile80Thr)	rs752746786
NM_002107.7(H3-3A):c.271G>C (p.Gly91Arg)	rs2102737050
NM_002109.6(HARS1):c.395C>T (p.Thr132Ile)	rs143473232
NM_002139.4(RBMX):c.478CCT[2] (p.Pro162del)	rs2522762140
NM_002163.4(IRF8):c.238A>G (p.Thr80Ala)	rs397514711
NM_002180.3(IGHMBP2):c.449+1G>T	rs797044802
NM_002180.3(IGHMBP2):c.638A>G (p.His213Arg)	rs137852666
NM_002181.4(IHH):c.280GAG[1] (p.Glu95del)	rs1948868228
NM_002181.4(IHH):c.478C>T (p.Arg160Cys)	rs1948842030
NM_002185.5(IL7R):c.394C>T (p.Pro132Ser)	rs104893894
NM_002187.3(IL12B):c.320dup (p.Glu108fs)	rs587776807
NM_002224.4(ITPR3):c.4271C>T (p.Thr1424Met)	rs1561875704
NM_002224.4(ITPR3):c.7570C>T (p.Arg2524Cys)	rs2533186607
NM_002225.5(IVD):c.1179del (p.Leu394fs)	rs786204613
NM_002225.5(IVD):c.148C>T (p.Arg50Cys)	rs34695403
NM_002225.5(IVD):c.785-1G>A	rs1555404784
NM_002226.5(JAG2):c.221G>C (p.Cys74Ser)	rs2141000225
NM_002226.5(JAG2):c.490G>A (p.Glu164Lys)	rs1888570315
NM_002226.5(JAG2):c.728C>A (p.Ala243Asp)	rs867073471
NM_002233.4(KCNA4):c.266G>A (p.Arg89Gln)	rs779101828
NM_002241.5(KCNJ10):c.193C>T (p.Arg65Cys)	rs387906834
NM_002241.5(KCNJ10):c.595C>T (p.Arg199Ter)	rs137853067
NM_002242.4(KCNJ13):c.484C>T (p.Arg162Trp)	rs121918542
NM_002250.3(KCNN4):c.844G>A (p.Val282Met)	rs1057519076
NM_002250.3(KCNN4):c.845T>A (p.Val282Glu)	rs1057519077
NM_002282.3(KRT83):c.811del (p.Ser271fs)	rs753293188
NM_002294.3(LAMP2):c.1082del (p.Lys361fs)	rs1436664364
NM_002294.3(LAMP2):c.1093+2440_1093+2441del	rs2147277541
NM_002294.3(LAMP2):c.961T>C (p.Trp321Arg)	rs104894859
NM_002296.4(LBR):c.1504C>G (p.Arg502Gly)	rs1131691304
NM_002296.4(LBR):c.1639A>G (p.Asn547Asp)	rs587777171
NM_002299.4(LCT):c.4998_5001del (p.Ser1666fs)	rs386833836
NM_002303.6(LEPR):c.1968G>C (p.Lys656Asn)	rs1805094
NM_002334.4(LRP4):c.3697G>A (p.Glu1233Lys)	rs786205153
NM_002335.4(LRP5):c.1828G>A (p.Gly610Arg)	rs80358313
NM_002335.4(LRP5):c.724G>A (p.Ala242Thr)	rs121908670
NM_002337.4(LRPAP1):c.863_864del (p.Ile288fs)	rs398122836
NM_002351.5(SH2D1A):c.203C>T (p.Thr68Ile)	rs111033627
NM_002381.5(MATN3):c.361C>T (p.Arg121Trp)	rs104893637
NM_002382.5(MAX):c.97C>T (p.Arg33Ter)	rs387906651
NM_002408.3(MGAT2):c.869C>T (p.Ser290Phe)	rs104894446
NM_002408.4(MGAT2):c.711G>C (p.Lys237Asn)	rs730882218
NM_002430.3(MN1):c.3745G>T (p.Glu1249Ter)	rs761317200
NM_002435.3(MPI):c.166dup (p.Arg56fs)	rs786204593
NM_002435.3(MPI):c.413T>C (p.Met138Thr)	rs104894495
NM_002437.5(MPV17):c.70G>T (p.Gly24Trp)	rs121909725
NM_002454.3(MTRR):c.1459G>A (p.Gly487Arg)	rs137853061
NM_002465.4(MYBPC1):c.742G>A (p.Glu248Lys)	rs564856283
NM_002465.4(MYBPC1):c.776T>C (p.Leu259Pro)	rs1421405659
NM_002468.5(MYD88):c.154GAG[1] (p.Glu53del)	rs878852993
NM_002470.4(MYH3):c.1123G>A (p.Glu375Lys)	rs121913621
NM_002470.4(MYH3):c.1385A>G (p.Asp462Gly)	rs121913622
NM_002470.4(MYH3):c.2015G>A (p.Arg672His)	rs121913617
NM_002470.4(MYH3):c.4031T>C (p.Leu1344Pro)	rs1567553806
NM_002470.4(MYH3):c.724TCC[1] (p.Ser243del)	rs1555527166
NM_002470.4(MYH3):c.859T>G (p.Phe287Val)	rs1567560080
NM_002470.4(MYH3):c.998C>G (p.Thr333Arg)	rs1567559562
NM_002473.6(MYH9):c.287C>T (p.Ser96Leu)	rs121913657
NM_002473.6(MYH9):c.3195_3215del (p.Gln1068_Leu1074del)	rs876661302
NM_002474.3(MYH11):c.3722_3793del (p.Arg1241_Leu1264del)	rs1555554098
NM_002485.5(NBN):c.1142del (p.Pro381fs)	rs587781969
NM_002485.5(NBN):c.657_661del (p.Lys219fs)	rs587776650
NM_002485.5(NBN):c.741_742dup (p.Glu248fs)	rs864309670
NM_002495.4(NDUFS4):c.466_470dup (p.Lys158fs)	rs1445075330
NM_002522.4(NPTX1):c.1109A>G (p.Gln370Arg)	rs2509777083
NM_002522.4(NPTX1):c.428G>T (p.Arg143Leu)	rs2509780141
NM_002524.5(NRAS):c.38G>A (p.Gly13Asp)	rs121434596
NM_002526.4(NT5E):c.1608dup (p.Val537fs)	rs774200574
NM_002529.4(NTRK1):c.1729G>C (p.Gly577Arg)	rs121964866
NM_002529.4(NTRK1):c.2046+3A>C	rs914061514
NM_002529.4(NTRK1):c.717+4A>T	rs606231466
NM_002576.5(PAK1):c.1286A>G (p.Tyr429Cys)	rs1565583382
NM_002576.5(PAK1):c.392A>G (p.Tyr131Cys)	rs1565638316
NM_002601.4(PDE6D):c.367_368insG (p.Leu123fs)	rs1559307932
NM_002633.3(PGM1):c.1378_1379del (p.Ala461fs)	rs763428801
NM_002633.3(PGM1):c.184G>C (p.Asp62His)	rs587777403
NM_002641.4(PIGA):c.355C>T (p.Arg119Trp)	rs587777396
NM_002677.5(PMP2):c.155T>C (p.Ile52Thr)	rs1563518388
NM_002691.4(POLD1):c.1421T>C (p.Leu474Pro)	rs587777627
NM_002691.4(POLD1):c.1433G>A (p.Ser478Asn)	rs397514632
NM_002691.4(POLD1):c.980C>T (p.Pro327Leu)	rs397514633
NM_002700.3(POU4F3):c.743T>C (p.Leu248Pro)	rs2479693752
NM_002700.3(POU4F3):c.952G>A (p.Val318Met)	rs2126962041
NM_002709.3(PPP1CB):c.146C>G (p.Pro49Arg)	rs886037952
NM_002715.4(PPP2CA):c.263A>G (p.Asp88Gly)	rs1561737008
NM_002715.4(PPP2CA):c.572A>G (p.His191Arg)	rs915349596
NM_002715.4(PPP2CA):c.794A>G (p.Tyr265Cys)	rs1561733474
NM_002715.4(PPP2CA):c.922_924dup (p.Phe308dup)	rs864622012
NM_002730.4(PRKACA):c.409G>A (p.Gly137Arg)	rs148280386
NM_002734.5(PRKAR1A):c.709-7_709-2del	rs281864801
NM_002734.5(PRKAR1A):c.891+3A>G	rs281864799
NM_002739.5(PRKCG):c.301C>T (p.His101Tyr)	rs121918511
NM_002755.4(MAP2K1):c.171G>T (p.Lys57Asn)	rs869025608
NM_002764.4(PRPS1):c.344T>C (p.Met115Thr)	rs80338732
NM_002768.5(CHMP1A):c.28-13G>A	rs398122918
NM_002769.4(PRSS1):c.-30_-28delTCC	rs386134264
NM_002769.5(PRSS1):c.346C>T (p.Arg116Cys)	rs387906698
NM_002769.5(PRSS1):c.68A>G (p.Lys23Arg)	rs111033567
NM_002778.4(PSAP):c.643A>C (p.Asn215His)	rs121918107
NM_002778.4(PSAP):c.722G>C (p.Cys241Ser)	rs121918104
NM_002805.6(PSMC5):c.959C>G (p.Pro320Arg)
NM_002834.5(PTPN11):c.182A>G (p.Asp61Gly)	rs121918461
NM_002834.5(PTPN11):c.215C>G (p.Ala72Gly)	rs121918454
NM_002838.5(PTPRC):c.177C>G (p.Pro59=)	rs17612648
NM_002860.4(ALDH18A1):c.177del (p.Lys59fs)	rs1555264243
NM_002878.4(RAD51D):c.345G>C (p.Gln115His)	rs1555568469
NM_002878.4(RAD51D):c.480+1G>A	rs1597862471
NM_002878.4(RAD51D):c.757C>T (p.Arg253Ter)	rs137886232
NM_002880.4(RAF1):c.1837C>G (p.Leu613Val)	rs80338797
NM_002880.4(RAF1):c.770C>T (p.Ser257Leu)	rs80338796
NM_002905.5(RDH5):c.218C>T (p.Ser73Phe)	rs62638185
NM_002916.5(RFC4):c.824_826del (p.Asp275del)
NM_002929.3(GRK1):c.1172C>A (p.Pro391His)	rs570621429
NM_002929.3(GRK1):c.1610_1613del (p.Asp537fs)	rs756235051
NM_002968.3(SALL1):c.826C>T (p.Arg276Ter)	rs104894537
NM_003000.3(SDHB):c.299C>T (p.Ser100Phe)	rs121917755
NM_003000.3(SDHB):c.590C>G (p.Pro197Arg)	rs74315367
NM_003002.4(SDHD):c.443del (p.Gly148fs)	rs587776646
NM_003011.4(SET):c.130_133del (p.Arg44fs)	rs1554776342
NM_003011.4(SET):c.244T>G (p.Trp82Gly)	rs1554776500
NM_003011.4(SET):c.313C>T (p.His105Tyr)	rs1564360978
NM_003036.4(SKI):c.100G>A (p.Gly34Ser)	rs387907306
NM_003036.4(SKI):c.347G>A (p.Gly116Glu)	rs387907303
NM_003042.4(SLC6A1):c.131G>A (p.Arg44Gln)	rs794726859
NM_003042.4(SLC6A1):c.863C>T (p.Ala288Val)	rs794726860
NM_003042.4(SLC6A1):c.889G>A (p.Gly297Arg)	rs876657400
NM_003051.4(SLC16A1):c.490dup (p.Leu164fs)	rs606231312
NM_003051.4(SLC16A1):c.499del (p.Val167fs)	rs606231301
NM_003051.4(SLC16A1):c.938G>A (p.Arg313Gln)	rs606231302
NM_003052.5(SLC34A1):c.272_292del (p.Val91_Ala97del)	rs876661296
NM_003052.5(SLC34A1):c.458G>T (p.Gly153Val)	rs769409705
NM_003054.6(SLC18A2):c.1160C>T (p.Pro387Leu)	rs1392638187
NM_003054.6(SLC18A2):c.710C>A (p.Pro237His)	rs767337086
NM_003055.3(SLC18A3):c.1192G>C (p.Asp398His)	rs1057517666
NM_003055.3(SLC18A3):c.557G>C (p.Gly186Ala)	rs1057517665
NM_003060.4(SLC22A5):c.-91_22del (p.Met1fs)	rs1554085861
NM_003060.4(SLC22A5):c.1324_1325delinsAT (p.Ala442Ile)	rs267607053
NM_003060.4(SLC22A5):c.1433C>T (p.Pro478Leu)	rs72552735
NM_003060.4(SLC22A5):c.1451-1G>A	rs386134224
NM_003060.4(SLC22A5):c.3G>T (p.Met1Ile)	rs121908892
NM_003060.4(SLC22A5):c.505C>T (p.Arg169Trp)	rs121908890
NM_003070.5(SMARCA2):c.3485G>A (p.Arg1162His)	rs281875186
NM_003072.5(SMARCA4):c.2576C>T (p.Thr859Met)	rs281875226
NM_003072.5(SMARCA4):c.2653C>T (p.Arg885Cys)	rs281875227
NM_003073.5(SMARCB1):c.110G>A (p.Arg37His)	rs398122368
NM_003079.5(SMARCE1):c.715C>T (p.Arg239Ter)	rs397509405
NM_003091.4(SNRPB):c.155+301G>C	rs786201019
NM_003094.4(SNRPE):c.1A>G (p.Met1Val)	rs587776924
NM_003104.6(SORD):c.757del (p.Ala253fs)	rs55901542
NM_003106.4(SOX2):c.389G>C (p.Gly130Ala)	rs121918652
NM_003108.4(SOX11):c.139G>A (p.Gly47Ser)	rs2465087374
NM_003108.4(SOX11):c.146T>A (p.Ile49Asn)	rs2465087380
NM_003108.4(SOX11):c.226A>G (p.Asn76Asp)	rs1665660543
NM_003108.4(SOX11):c.299G>C (p.Arg100Pro)	rs1064794628
NM_003108.4(SOX11):c.337T>C (p.Tyr113His)	rs2465087527
NM_003108.4(SOX11):c.347A>G (p.Tyr116Cys)	rs587777479
NM_003108.4(SOX11):c.820A>T (p.Lys274Ter)	rs2465088378
NM_003119.4(SPG7):c.2075G>C (p.Ser692Thr)	rs121918357
NM_003120.3(SPI1):c.632A>C (p.His211Pro)	rs2095906547
NM_003126.4(SPTA1):c.4339-99C>T	rs200830867
NM_003126.4(SPTA1):c.83G>A (p.Arg28His)	rs121918641
NM_003140.3(SRY):c.192G>A (p.Met64Ile)	rs104894969
NM_003143.3(SSBP1):c.119G>T (p.Gly40Val)	rs1799653139
NM_003151.4(STAT4):c.1949C>A (p.Ala650Asp)	rs2470644108
NM_003153.5(STAT6):c.1255G>C (p.Asp419His)	rs11172102
NM_003172.4(SURF1):c.870dup (p.Lys291Ter)	rs782061187
NM_003184.4(TAF2):c.2380T>A (p.Tyr794Asn)	rs2131063622
NM_003193.5(TBCE):c.155_166del (p.Ser52_Gly55del)	rs767004810
NM_003227.4(TFR2):c.2069A>C (p.Gln690Pro)	rs80338889
NM_003238.6(TGFB2):c.294_308del (p.Ala100_Tyr104del)	rs398122883
NM_003238.6(TGFB2):c.958C>T (p.Arg320Cys)	rs1553303352
NM_003239.5(TGFB3):c.898C>T (p.Arg300Trp)	rs796051885
NM_003242.6(TGFBR2):c.1063G>C (p.Ala355Pro)	rs104893813
NM_003242.6(TGFBR2):c.1609C>T (p.Arg537Cys)	rs104893809
NM_003282.4(TNNI2):c.524AGA[1] (p.Lys176del)	rs199474801
NM_003283.6(TNNT1):c.74-67C>A	rs2515470310
NM_003285.3(TNR):c.2713C>T (p.Arg905Ter)	rs1287757170
NM_003285.3(TNR):c.2744_2745del (p.Val915fs)	rs1571339601
NM_003292.3(TPR):c.2610+5G>A	rs2526595403
NM_003292.3(TPR):c.6625C>T (p.Arg2209Ter)	rs2526481808
NM_003301.7(TRHR):c.242C>G (p.Pro81Arg)	rs1586182837
NM_003301.7(TRHR):c.343_352delinsA (p.Ser115_Ala118delinsThr)	rs1586182912
NM_003309.4(TSPYL1):c.725_726del (p.Val242fs)	rs775957625
NM_003322.6(TULP1):c.1471T>C (p.Phe491Leu)	rs121909074
NM_003322.6(TULP1):c.99+1G>A	rs281865166
NM_003334.4(UBA1):c.121A>C (p.Met41Leu)	rs1936307795
NM_003334.4(UBA1):c.121A>G (p.Met41Val)	rs1936307795
NM_003334.4(UBA1):c.122T>C (p.Met41Thr)	rs782416867
NM_003334.4(UBA1):c.1617G>T (p.Met539Ile)	rs80356545
NM_003334.4(UBA1):c.1639A>G (p.Ser547Gly)	rs80356546
NM_003361.4(UMOD):c.586G>A (p.Asp196Asn)	rs1965729129
NM_003361.4(UMOD):c.947A>C (p.Gln316Pro)	rs1555487318
NM_003366.4(UQCRC2):c.547C>T (p.Arg183Trp)	rs374661051
NM_003380.5(VIM):c.623A>G (p.Gln208Arg)	rs1085307141
NM_003392.7(WNT5A):c.206G>A (p.Cys69Tyr)	rs786204837
NM_003392.7(WNT5A):c.544T>C (p.Cys182Arg)	rs387906663
NM_003401.5(XRCC4):c.25del (p.His9fs)	rs869320677
NM_003441.4(ZNF141):c.1421C>T (p.Thr474Ile)	rs587776959
NM_003482.4(KMT2D):c.10621G>C (p.Ala3541Pro)	rs2120453584
NM_003482.4(KMT2D):c.15536G>A (p.Arg5179His)	rs267607237
NM_003491.4(NAA10):c.*39A>G	rs1603289774
NM_003491.4(NAA10):c.*40A>G	rs1342269961
NM_003491.4(NAA10):c.*43A>G	rs1603289772
NM_003491.4(NAA10):c.235C>T (p.Arg79Cys)	rs1057524031
NM_003491.4(NAA10):c.346C>T (p.Arg116Trp)	rs587780563
NM_003500.4(ACOX2):c.461_464del (p.Thr154fs)	rs34391522
NM_003504.5(CDC45):c.203A>G (p.Gln68Arg)	rs879255633
NM_003504.5(CDC45):c.226A>C (p.Asn76His)	rs879255632
NM_003504.5(CDC45):c.333C>T (p.Asn111=)	rs748749078
NM_003504.5(CDC45):c.893C>T (p.Ala298Val)	rs146559223
NM_003542.4(H4C3):c.275A>G (p.Lys92Arg)	rs2113784630
NM_003590.5(CUL3):c.173A>G (p.Tyr58Cys)	rs1553535841
NM_003620.4(PPM1D):c.1270dup (p.Glu424fs)	rs1064797098
NM_003640.5(ELP1):c.2087G>C (p.Arg696Pro)	rs137853022
NM_003640.5(ELP1):c.2741C>T (p.Pro914Leu)	rs28939712
NM_003659.4(AGPS):c.1256G>A (p.Arg419His)	rs121434411
NM_003659.4(AGPS):c.926C>T (p.Thr309Ile)	rs121434412
NM_003660.4(PPFIA3):c.1243C>T (p.Arg415Trp)	rs2513965447
NM_003661.3(APOL1):c.[1024A>G;1152T>G]
NM_003661.4(APOL1):c.1164_1169del (p.Asn388_Tyr389del)	rs71785313
NM_003665.4(FCN3):c.349del (p.Leu117fs)	rs532781899
NM_003672.4(CDC14A):c.934C>G (p.Arg312Gly)	rs148737918
NM_003672.4(CDC14A):c.935G>A (p.Arg312Gln)	rs369245990
NM_003676.4(DEGS1):c.320G>A (p.Trp107Ter)	rs1382083552
NM_003676.4(DEGS1):c.395A>G (p.His132Arg)	rs1558209997
NM_003676.4(DEGS1):c.839C>T (p.Ala280Val)	rs1558211070
NM_003680.4(YARS1):c.586G>A (p.Glu196Lys)	rs121908834
NM_003681.5(PDXK):c.225T>A (p.Asn75Lys)	rs1601814238
NM_003705.5(SLC25A12):c.1058G>A (p.Arg353Gln)	rs886037851
NM_003718.5(CDK13):c.2149G>A (p.Gly717Arg)	rs1057519632
NM_003718.5(CDK13):c.2252G>A (p.Arg751Gln)	rs1057519634
NM_003718.5(CDK13):c.2524A>G (p.Asn842Asp)	rs1554333853
NM_003721.4(RFXANK):c.271+1G>C	rs759667201
NM_003722.5(TP63):c.1028G>A (p.Arg343Gln)	rs121908841
NM_003722.5(TP63):c.797G>A (p.Arg266Gln)	rs121908849
NM_003722.5(TP63):c.953G>A (p.Arg318His)	rs121908840
NM_003730.6(RNASET2):c.567G>A (p.Gln189=)	rs1191342507
NM_003738.5(PTCH2):c.1172_1173del (p.Phe390_Ser391insTer)	rs56126236
NM_003742.4(ABCB11):c.150+3A>C	rs387906354
NM_003745.2(SOCS1):c.192C>G (p.Tyr64Ter)	rs2141125120
NM_003748.4(ALDH4A1):c.1560dup (p.Gly521fs)	rs779536510
NM_003764.4(STX11):c.173T>C (p.Leu58Pro)	rs431905512
NM_003793.4(CTSF):c.1439C>T (p.Ser480Leu)	rs397514733
NM_003797.5(EED):c.906A>C (p.Arg302Ser)	rs1131692173
NM_003801.4(GPAA1):c.1165G>C (p.Ala389Pro)	rs782768127
NM_003801.4(GPAA1):c.160_161delinsAA (p.Ala54Asn)	rs1554763777
NM_003801.4(GPAA1):c.869T>C (p.Leu290Pro)	rs1554764058
NM_003801.4(GPAA1):c.872T>C (p.Leu291Pro)	rs1010907740
NM_003824.4(FADD):c.315T>G (p.Cys105Trp)	rs387906839
NM_003839.4(TNFRSF11A):c.46_63dup (p.Leu16_Leu21dup)	rs879253796
NM_003850.3(SUCLA2):c.751G>A (p.Asp251Asn)	rs397515462
NM_003859.3(DPM1):c.455G>T (p.Gly152Val)	rs587777116
NM_003859.3(DPM1):c.742T>C (p.Ser248Pro)	rs587777114
NM_003863.4(DPM2):c.139C>T (p.Arg47Ter)	rs549450795
NM_003896.4(ST3GAL5):c.584G>C (p.Cys195Ser)	rs886037930
NM_003900.5(SQSTM1):c.711GAA[1] (p.Lys238del)	rs796052214
NM_003906.5(MCM3AP):c.5423del (p.Gly1808fs)	rs747306849
NM_003907.3(EIF2B5):c.1157G>T (p.Gly386Val)	rs113994074
NM_003907.3(EIF2B5):c.166T>G (p.Phe56Val)	rs113994043
NM_003982.4(SLC7A7):c.1228C>T (p.Arg410Ter)	rs121908678
NM_003982.4(SLC7A7):c.1381_1384dup (p.Arg462fs)	rs386833805
NM_003998.4(NFKB1):c.730+4A>G	rs869320688
NM_004004.6(GJB2):c.280_284dup (p.Ala96fs)	rs886037625
NM_004004.6(GJB2):c.551G>A (p.Arg184Gln)	rs80338950
NM_004006.3(DMD):c.5899C>T (p.Arg1967Ter)	rs128626249
NM_004006.3(DMD):c.93+5590T>A	rs1557211730
NM_004035.7(ACOX1):c.710A>G (p.Asn237Ser)	rs1567876984
NM_004036.5(ADCY3):c.3348CTT[2] (p.Phe1118del)	rs750852737
NM_004044.7(ATIC):c.406G>A (p.Ala136Thr)	rs1575116846
NM_004046.6(ATP5F1A):c.545G>A (p.Arg182Gln)	rs2144189607
NM_004048.4(B2M):c.31G>C (p.Ala11Pro)	rs104894481
NM_004064.5(CDKN1B):c.-31AG[1]	rs774454456
NM_004068.4(AP2M1):c.508C>T (p.Arg170Trp)	rs1577059692
NM_004082.5(DCTN1):c.211G>A (p.Gly71Arg)	rs72466485
NM_004082.5(DCTN1):c.212G>A (p.Gly71Glu)	rs67586389
NM_004082.5(DCTN1):c.221A>C (p.Gln74Pro)	rs72466487
NM_004085.4(TIMM8A):c.198C>G (p.Cys66Trp)	rs80356560
NM_004086.3(COCH):c.1625G>T (p.Cys542Phe)	rs121908932
NM_004086.3(COCH):c.349T>C (p.Trp117Arg)	rs121908929
NM_004092.4(ECHS1):c.2T>G (p.Met1Arg)	rs587776497
NM_004113.6(FGF12):c.155G>A (p.Arg52His)	rs886039903
NM_004114.5(FGF13):c.14T>G (p.Ile5Ser)	rs2124253547
NM_004147.4(DRG1):c.160G>T (p.Gly54Ter)	rs2518503242
NM_004147.4(DRG1):c.418C>T (p.Arg140Ter)	rs1459583728
NM_004147.4(DRG1):c.742_743inv (p.Asn248Phe)
NM_004147.4(DRG1):c.787A>T (p.Lys263Ter)	rs2517548621
NM_004171.4(SLC1A2):c.866C>G (p.Pro289Arg)	rs781379291
NM_004181.5(UCHL1):c.145CTG[5] (p.Leu52_Phe53insLeu)	rs749368841
NM_004183.4(BEST1):c.253T>C (p.Tyr85His)	rs28940274
NM_004183.4(BEST1):c.728C>T (p.Ala243Val)	rs28940570
NM_004183.4(BEST1):c.881TCA[1] (p.Ile295del)	rs121918283
NM_004184.4(WARS1):c.1342C>T (p.Arg448Trp)	rs749896038
NM_004184.4(WARS1):c.770A>G (p.His257Arg)	rs770003315
NM_004184.4(WARS1):c.997G>A (p.Ala333Thr)	rs2549240480
NM_004187.5(KDM5C):c.807del (p.Thr270fs)	rs1569278313
NM_004204.5(PIGQ):c.1199_1201del (p.Tyr400del)	rs766667249
NM_004208.4(AIFM1):c.1019T>C (p.Met340Thr)	rs1057518895
NM_004208.4(AIFM1):c.1264C>T (p.Arg422Trp)	rs724160020
NM_004208.4(AIFM1):c.1478A>T (p.Glu493Val)	rs281864468
NM_004208.4(AIFM1):c.720C>T (p.Asp240=)	rs1569418673
NM_004214.5(FIBP):c.175_176insTAA (p.His59delinsLeuAsn)	rs886037928
NM_004218.4(RAB11B):c.202G>A (p.Ala68Thr)	rs1555690804
NM_004218.4(RAB11B):c.64G>A (p.Val22Met)	rs1555690779
NM_004239.4(TRIP11):c.1228G>T (p.Asp410Tyr)	rs1566863801
NM_004239.4(TRIP11):c.4534C>T (p.Gln1512Ter)	rs780625551
NM_004239.4(TRIP11):c.5416A>G (p.Met1806Val)	rs1566843321
NM_004260.4(RECQL4):c.3271C>T (p.Gln1091Ter)	rs137853230
NM_004268.5(MED17):c.1112T>C (p.Leu371Pro)	rs267607232
NM_004273.5(CHST3):c.422C>T (p.Thr141Met)	rs267606735
NM_004273.5(CHST3):c.911G>A (p.Arg304Gln)	rs28937593
NM_004304.5(ALK):c.3383G>C (p.Gly1128Ala)	rs113994088
NM_004304.5(ALK):c.3575G>C (p.Arg1192Pro)	rs113994089
NM_004304.5(ALK):c.3824G>A (p.Arg1275Gln)	rs113994087
NM_004311.4(ARL3):c.269A>G (p.Tyr90Cys)	rs1564730440
NM_004318.4(ASPH):c.1695C>A (p.Tyr565Ter)	rs781508063
NM_004320.6(ATP2A1):c.2944G>A (p.Glu982Lys)	rs538702357
NM_004329.3(BMPR1A):c.1409T>C (p.Met470Thr)	rs199476089
NM_004333.6(BRAF):c.1799T>A (p.Val600Glu)	rs113488022
NM_004333.6(BRAF):c.1914T>A (p.Asp638Glu)	rs180177042
NM_004341.5(CAD):c.1843-3C>T	rs1057519262
NM_004360.5(CDH1):c.1711+1dup	rs2152137028
NM_004360.5(CDH1):c.1901C>T (p.Ala634Val)	rs121964878
NM_004360.5(CDH1):c.49-2A>G	rs1060501226
NM_004366.6(CLCN2):c.221-14_221-4del	rs515726132
NM_004371.4(COPA):c.728A>G (p.Asp243Gly)	rs794727994
NM_004373.4(COX6A1):c.247-7_247-3del	rs587777783
NM_004380.3(CREBBP):c.2728A>G (p.Thr910Ala)	rs143247685
NM_004380.3(CREBBP):c.3524A>G (p.Tyr1175Cys)	rs28937315
NM_004380.3(CREBBP):c.3832G>A (p.Glu1278Lys)	rs267606752
NM_004380.3(CREBBP):c.4133G>C (p.Arg1378Pro)	rs121434626
NM_004380.3(CREBBP):c.5600G>A (p.Arg1867Gln)	rs1131691326
NM_004387.4(NKX2-5):c.334+1G>T	rs876661380
NM_004387.4(NKX2-5):c.380C>A (p.Ala127Glu)	rs387906774
NM_004387.4(NKX2-5):c.568C>T (p.Arg190Cys)	rs104893906
NM_004393.6(DAG1):c.2006G>T (p.Cys669Phe)	rs797045023
NM_004408.4(DNM1):c.1076G>C (p.Gly359Ala)	rs587777862
NM_004408.4(DNM1):c.1335+1638G>A	rs747079285
NM_004415.4(DSP):c.7097G>A (p.Arg2366His)	rs387906618
NM_004415.4(DSP):c.7123G>C (p.Gly2375Arg)	rs376923069
NM_004423.4(DVL3):c.1715-1G>A	rs869025217
NM_004429.5(EFNB1):c.161C>T (p.Pro54Leu)	rs104894801
NM_004431.5(EPHA2):c.2826-9G>A	rs886041412
NM_004444.5(EPHB4):c.1990G>A (p.Glu664Lys)	rs1562969219
NM_004444.5(EPHB4):c.2405A>G (p.Asp802Gly)	rs776410552
NM_004444.5(EPHB4):c.2484+1G>A	rs927772349
NM_004444.5(EPHB4):c.319T>C (p.Cys107Arg)	rs1562974383
NM_004444.5(EPHB4):c.802T>C (p.Cys268Arg)	rs201816920
NM_004448.4(ERBB2):c.2263_2264delinsCC (p.Leu755Pro)	rs121913469
NM_004448.4(ERBB2):c.2313_2324dup (p.Tyr772_Ala775dup)	rs397516975
NM_004453.4(ETFDH):c.665A>C (p.Gln222Pro)	rs1482632936
NM_004462.5(FDFT1):c.880-24_880-23delinsAG	rs1563339323
NM_004463.3(FGD1):c.1565G>A (p.Arg522His)	rs137853264
NM_004463.3(FGD1):c.527dup (p.Leu177fs)	rs756586058
NM_004465.2(FGF10):c.577C>T (p.Arg193Ter)	rs104893884
NM_004481.5(GALNT2):c.311T>C (p.Phe104Ser)	rs1663960324
NM_004481.5(GALNT2):c.629G>C (p.Arg210Pro)	rs376870425
NM_004493.3(HSD17B10):c.745G>C (p.Glu249Gln)	rs62626305
NM_004519.4(KCNQ3):c.988C>T (p.Arg330Cys)	rs118192251
NM_004522.3(KIF5C):c.709G>A (p.Glu237Lys)	rs587777570
NM_004522.3(KIF5C):c.710A>T (p.Glu237Val)	rs587777035
NM_004523.4(KIF11):c.2830C>T (p.Arg944Cys)	rs387906642
NM_004523.4(KIF11):c.704C>G (p.Ser235Cys)	rs387906643
NM_004525.3(LRP2):c.7564T>C (p.Tyr2522His)	rs80338747
NM_004527.4(MEOX1):c.94del (p.Ala32fs)	rs1567750527
NM_004530.6(MMP2):c.1210G>A (p.Glu404Lys)	rs121912955
NM_004531.5(MOCS2):c.539_540del (p.Lys180fs)	rs398122797
NM_004539.4(NARS1):c.1600C>T (p.Arg534Ter)	rs2051507892
NM_004539.4(NARS1):c.32G>C (p.Arg11Pro)	rs771435243
NM_004551.3(NDUFS3):c.434C>T (p.Thr145Ile)	rs28939714
NM_004553.6(NDUFS6):c.344G>A (p.Cys115Tyr)	rs267606913
NM_004562.3(PRKN):c.245C>A (p.Ala82Glu)	rs55774500
NM_004586.3(RPS6KA3):c.326-11A>G	rs1555943503
NM_004586.3(RPS6KA3):c.340C>T (p.Arg114Trp)	rs122454127
NM_004589.4(SCO1):c.521C>T (p.Pro174Leu)	rs104894630
NM_004606.5(TAF1):c.1726C>T (p.Pro576Ser)	rs864321630
NM_004606.5(TAF1):c.2359T>C (p.Cys787Arg)	rs864321628
NM_004606.5(TAF1):c.3676C>T (p.Arg1226Trp)	rs864321629
NM_004612.4(TGFBR1):c.1459C>T (p.Arg487Trp)	rs111426349
NM_004612.4(TGFBR1):c.722C>T (p.Ser241Leu)	rs111854391
NM_004625.4(WNT7A):c.874C>T (p.Arg292Cys)	rs104893835
NM_004628.5(XPC):c.413-24A>G	rs794729657
NM_004643.4(PABPN1):c.35G>C (p.Gly12Ala)	rs104894466
NM_004646.4(NPHS1):c.1307_1308dup (p.Val437fs)	rs386833878
NM_004646.4(NPHS1):c.3250del (p.Val1084fs)	rs386833935
NM_004646.4(NPHS1):c.3250dup (p.Val1084fs)	rs386833935
NM_004646.4(NPHS1):c.793T>C (p.Cys265Arg)	rs267606917
NM_004656.4(BAP1):c.277A>G (p.Thr93Ala)	rs375129361
NM_004727.3(SLC24A1):c.1613_1614del (p.Phe538fs)	rs767508005
NM_004782.4(SNAP29):c.223del (p.Val75fs)	rs869312906
NM_004782.4(SNAP29):c.354dup (p.Leu119fs)	rs751575036
NM_004804.3(CIAO1):c.193C>T (p.Arg65Trp)
NM_004830.4(MED23):c.3988C>T (p.Arg1330Ter)	rs527236036
NM_004836.7(EIF2AK3):c.1570_1573del (p.Lys523_Glu524insTer)	rs1558652941
NM_004859.4(CLTC):c.2669C>T (p.Pro890Leu)	rs1555606635
NM_004863.4(SPTLC2):c.1145G>T (p.Gly382Val)	rs267607089
NM_004863.4(SPTLC2):c.1151C>T (p.Ser384Phe)	rs1594986869
NM_004897.5(MINPP1):c.1210C>T (p.Arg404Ter)	rs1311614264
NM_004897.5(MINPP1):c.1456G>A (p.Glu486Lys)	rs2131848604
NM_004897.5(MINPP1):c.157T>G (p.Tyr53Asp)	rs2131792567
NM_004897.5(MINPP1):c.75_94del (p.Leu27fs)	rs1323094107
NM_004897.5(MINPP1):c.992T>G (p.Ile331Ser)	rs749643952
NM_004927.4(MRPL49):c.262C>T (p.Arg88Cys)
NM_004928.3(CFAP410):c.643-23A>T	rs1131690800
NM_004947.5(DOCK3):c.1038-2A>G	rs1560212751
NM_004958.4(MTOR):c.5663T>G (p.Phe1888Cys)	rs869312666
NM_004959.5(NR5A1):c.274C>T (p.Arg92Trp)	rs886039769
NM_004960.4(FUS):c.1520G>A (p.Gly507Asp)	rs267606831
NM_004970.3(IGFALS):c.583_591dup (p.Ser195_Arg197dup)	rs606231171
NM_004974.4(KCNA2):c.1214C>T (p.Pro405Leu)	rs876657389
NM_004985.5(KRAS):c.13A>G (p.Lys5Glu)	rs193929331
NM_004985.5(KRAS):c.37G>C (p.Gly13Arg)	rs121913535
NM_005026.5(PIK3CD):c.1002C>A (p.Asn334Lys)	rs28730670
NM_005026.5(PIK3CD):c.1246T>C (p.Cys416Arg)	rs587777390
NM_005026.5(PIK3CD):c.1573G>A (p.Glu525Lys)	rs587777389
NM_005026.5(PIK3CD):c.3061G>A (p.Glu1021Lys)	rs397518423
NM_005027.4(PIK3R2):c.1117G>A (p.Gly373Arg)	rs587776934
NM_005032.7(PLS3):c.1497G>C (p.Trp499Cys)	rs2521547128
NM_005032.7(PLS3):c.1774A>G (p.Met592Val)	rs2521571585
NM_005032.7(PLS3):c.808G>A (p.Glu270Lys)	rs2521471111
NM_005033.3(EXOSC9):c.481C>T (p.Arg161Ter)	rs372318863
NM_005035.4(POLRMT):c.2225_2242del (p.Pro742_Pro747del)	rs748846799
NM_005052.3(RAC3):c.176C>G (p.Ala59Gly)	rs1379395211
NM_005052.3(RAC3):c.191A>G (p.Tyr64Cys)	rs2043443851
NM_005052.3(RAC3):c.34G>C (p.Gly12Arg)	rs2043431490
NM_005085.4(NUP214):c.461A>G (p.Asp154Gly)	rs1564175808
NM_005094.4(SLC27A4):c.716-1G>A	rs1588559786
NM_005101.4(ISG15):c.379G>T (p.Glu127Ter)	rs672601312
NM_005120.3(MED12):c.3020A>G (p.Asn1007Ser)	rs80338759
NM_005141.4(FGB):c.130C>T (p.Arg44Cys)	rs121909616
NM_005141.4(FGB):c.586C>T (p.Arg196Cys)	rs121909623
NM_005151.4(USP14):c.233_236del (p.Leu78fs)	rs2144233064
NM_005157.6(ABL1):c.677A>G (p.Tyr226Cys)	rs1060499547
NM_005157.6(ABL1):c.689C>T (p.Pro230Leu)	rs1831097846
NM_005169.4(PHOX2A):c.215C>T (p.Ala72Val)	rs104894269
NM_005188.4(CBL):c.1228-2A>G	rs727504426
NM_005199.5(CHRNG):c.301_309dup (p.Arg101_Pro103dup)	rs863223313
NM_005199.5(CHRNG):c.320T>G (p.Val107Gly)	rs267606726
NM_005205.4(COX6A2):c.117C>A (p.Ser39Arg)	rs1597176845
NM_005208.5(CRYBA1):c.269GAG[1] (p.Gly91del)	rs1064797219
NM_005210.4(CRYGB):c.10-38del	rs3214759
NM_005214.5(CTLA4):c.109+1G>T	rs606231421
NM_005214.5(CTLA4):c.151C>T (p.Arg51Ter)	rs606231417
NM_005228.5(EGFR):c.2155G>A (p.Gly719Ser)	rs28929495
NM_005236.3(ERCC4):c.1765C>T (p.Arg589Trp)	rs147105770
NM_005247.4(FGF3):c.196G>T (p.Gly66Cys)	rs121917705
NM_005249.5(FOXG1):c.643T>C (p.Phe215Leu)	rs267606828
NM_005249.5(FOXG1):c.969del (p.Ser323fs)	rs786205011
NM_005251.3(FOXC2):c.297C>G (p.Tyr99Ter)	rs104894516
NM_005251.3(FOXC2):c.374C>T (p.Ser125Leu)	rs121909106
NM_005253.4(FOSL2):c.619C>T (p.Gln207Ter)	rs2465329674
NM_005260.7(GDF9):c.783del (p.Ser262fs)	rs1216260561
NM_005262.3(GFER):c.219del (p.Cys74fs)	rs1597063051
NM_005262.3(GFER):c.259-25_259-24del	rs1597063303
NM_005267.5(GJA8):c.131T>A (p.Val44Glu)	rs80358204
NM_005267.5(GJA8):c.142G>A (p.Glu48Lys)	rs80358201
NM_005267.5(GJA8):c.262C>T (p.Pro88Ser)	rs80358200
NM_005267.5(GJA8):c.566C>T (p.Pro189Leu)	rs397515627
NM_005267.5(GJA8):c.593G>A (p.Arg198Gln)	rs80358205
NM_005267.5(GJA8):c.68G>C (p.Arg23Thr)	rs80358203
NM_005271.5(GLUD1):c.1493C>T (p.Ser498Leu)	rs121909731
NM_005271.5(GLUD1):c.1495G>A (p.Gly499Ser)	rs121909733
NM_005271.5(GLUD1):c.1519C>T (p.His507Tyr)	rs121909730
NM_005271.5(GLUD1):c.953G>A (p.Arg318Lys)	rs121909736
NM_005271.5(GLUD1):c.965G>A (p.Arg322His)	rs121909737
NM_005276.4(GPD1):c.686G>C (p.Arg229Pro)	rs199673455
NM_005321.3(H1-4):c.430dup (p.Ala144fs)	rs1131690805
NM_005324.5(H3-3B):c.25C>T (p.Arg9Cys)	rs2061653458
NM_005324.5(H3-3B):c.377A>G (p.Gln126Arg)	rs2143629984
NM_005334.3(HCFC1):c.218C>T (p.Ala73Val)	rs397515486
NM_005337.5(NCKAP1L):c.1555G>C (p.Val519Leu)	rs1956961224
NM_005337.5(NCKAP1L):c.773G>T (p.Arg258Leu)	rs1956891911
NM_005343.4(HRAS):c.187_207dup (p.Glu63_Asp69dup)	rs587777239
NM_005343.4(HRAS):c.37G>C (p.Gly13Arg)	rs104894228
NM_005343.4(HRAS):c.37G>T (p.Gly13Cys)	rs104894228
NM_005343.4(HRAS):c.437C>T (p.Ala146Val)	rs121917759
NM_005356.5(LCK):c.1129dup (p.Ser377fs)	rs1569967422
NM_005357.4(LIPE):c.3203_3221del (p.Val1068fs)	rs587777699
NM_005359.6(SMAD4):c.1081C>T (p.Arg361Cys)	rs80338963
NM_005360.5(MAF):c.176C>A (p.Pro59His)	rs727502770
NM_005360.5(MAF):c.908A>C (p.Gln303Pro)	rs786205222
NM_005372.1(MOS):c.467del (p.Gly156fs)	rs1293467045
NM_005372.1(MOS):c.596A>T (p.His199Leu)	rs930795508
NM_005372.1(MOS):c.875C>T (p.Ala292Val)	rs1810519989
NM_005373.3(MPL):c.1904C>T (p.Pro635Leu)	rs121913612
NM_005373.3(MPL):c.823C>A (p.Pro275Thr)	rs28928908
NM_005379.4(MYO1A):c.277C>T (p.Arg93Ter)	rs121909305
NM_005391.5(PDK3):c.473G>A (p.Arg158His)	rs397515323
NM_005400.3(PRKCE):c.1795G>A (p.Glu599Lys)	rs1553363925
NM_005402.4(RALA):c.73G>A (p.Val25Met)	rs1554297905
NM_005412.6(SHMT2):c.1495C>G (p.Pro499Ala)	rs2037465152
NM_005413.4(SIX3):c.770G>C (p.Arg257Pro)	rs121917879
NM_005422.4(TECTA):c.5668C>T (p.Arg1890Cys)	rs121909063
NM_005445.4(SMC3):c.1964G>A (p.Gly655Asp)	rs587784425
NM_005445.4(SMC3):c.707G>C (p.Arg236Pro)	rs587784429
NM_005450.6(NOG):c.104C>G (p.Pro35Arg)	rs104894611
NM_005476.7(GNE):c.1727G>A (p.Gly576Glu)	rs121908625
NM_005476.7(GNE):c.2086G>A (p.Val696Met)	rs121908627
NM_005476.7(GNE):c.511A>G (p.Met171Val)	rs121908634
NM_005476.7(GNE):c.788G>T (p.Arg263Leu)	rs121908623
NM_005476.7(GNE):c.796C>T (p.Arg266Trp)	rs121908621
NM_005477.3(HCN4):c.1209+2_1209+3insGTGA	rs786205418
NM_005515.4(MNX1):c.852+1G>A	rs1563700419
NM_005518.4(HMGCS2):c.1502G>C (p.Arg501Pro)	rs372079931
NM_005530.3(IDH3A):c.364G>A (p.Ala122Thr)	rs756333430
NM_005534.4(IFNGR2):c.800del (p.Phe267fs)	rs2123370265
NM_005546.4(ITK):c.1003C>T (p.Arg335Trp)	rs121908191
NM_005554.4(KRT6A):c.1381G>T (p.Glu461Ter)	rs267607468
NM_005554.4(KRT6A):c.1414G>A (p.Glu472Lys)	rs60554162
NM_005554.4(KRT6A):c.1460-2A>C	rs113369052
NM_005572.4(LMNA):c.1711C>A (p.Arg571Ser)	rs80338938
NM_005577.4(LPA):c.4289+1G>A	rs41272114
NM_005585.5(SMAD6):c.42G>A (p.Trp14Ter)	rs1246889300
NM_005591.4(MRE11):c.1442C>A (p.Thr481Lys)	rs137852762
NM_005591.4(MRE11):c.630G>C (p.Trp210Cys)	rs137852763
NM_005609.4(PYGM):c.152ACT[2] (p.Tyr53del)	rs1325298827
NM_005609.4(PYGM):c.1722T>G (p.Tyr574Ter)	rs119103260
NM_005609.4(PYGM):c.1A>G (p.Met1Val)	rs267606993
NM_005609.4(PYGM):c.2392T>C (p.Trp798Arg)	rs119103258
NM_005611.4(RBL2):c.556C>T (p.Arg186Ter)	rs2153138545
NM_005629.4(SLC6A8):c.1473C>G (p.Cys491Trp)	rs122453118
NM_005629.4(SLC6A8):c.259G>A (p.Gly87Arg)	rs122453115
NM_005629.4(SLC6A8):c.395G>T (p.Gly132Val)	rs122453117
NM_005630.3(SLCO2A1):c.1370C>T (p.Pro457Leu)	rs745763957
NM_005639.3(SYT1):c.1098C>A (p.Asp366Glu)	rs1565962725
NM_005639.3(SYT1):c.1103T>C (p.Ile368Thr)	rs1135402761
NM_005639.3(SYT1):c.1113C>G (p.Asn371Lys)	rs144900171
NM_005639.3(SYT1):c.908T>A (p.Met303Lys)	rs1565922388
NM_005639.3(SYT1):c.911A>G (p.Asp304Gly)	rs1565922395
NM_005645.4(TAF13):c.119T>A (p.Met40Lys)	rs1060505029
NM_005647.4(TBL1X):c.1015C>T (p.Arg339Ter)	rs1601844140
NM_005647.4(TBL1X):c.1246A>T (p.Asn416Tyr)	rs1601855785
NM_005647.4(TBL1X):c.1510C>T (p.His504Tyr)	rs1601857538
NM_005647.4(TBL1X):c.1526A>G (p.Tyr509Cys)	rs1601857555
NM_005654.6(NR2F1):c.335G>A (p.Arg112Lys)	rs587777277
NM_005654.6(NR2F1):c.339C>A (p.Ser113Arg)	rs587777275
NM_005654.6(NR2F1):c.344G>C (p.Arg115Pro)	rs587777274
NM_005654.6(NR2F1):c.755T>C (p.Leu252Pro)	rs587777276
NM_005670.4(EPM2A):c.835G>A (p.Gly279Ser)	rs137852917
NM_005670.4(EPM2A):c.953dup (p.Gln319fs)	rs587776554
NM_005687.5(FARSB):c.848+1G>A	rs777071414
NM_005687.5(FARSB):c.853G>A (p.Glu285Lys)	rs767956337
NM_005718.5(ARPC4):c.472C>T (p.Arg158Cys)	rs2125650298
NM_005802.5(TOPORS):c.2550_2553del (p.Asp850fs)	rs1563983151
NM_005802.5(TOPORS):c.2554_2557del (p.Glu852fs)	rs527236116
NM_005859.5(PURA):c.299T>C (p.Leu100Pro)	rs587782995
NM_005859.5(PURA):c.563T>C (p.Ile188Thr)	rs793888527
NM_005859.5(PURA):c.691TTC[2] (p.Phe233del)	rs786204835
NM_005861.4(STUB1):c.194A>G (p.Asn65Ser)	rs690016544
NM_005861.4(STUB1):c.367C>G (p.Leu123Val)	rs587777344
NM_005862.3(STAG1):c.1118G>A (p.Arg373Gln)	rs1376334317
NM_005862.3(STAG1):c.646A>G (p.Arg216Gly)	rs1553738686
NM_005869.4(CWC27):c.1002dup (p.Val335fs)	rs752159903
NM_005876.5(SPEG):c.6697C>T (p.Gln2233Ter)	rs587777672
NM_005898.5(CAPRIN1):c.1535C>T (p.Pro512Leu)	rs2496097769
NM_005902.4(SMAD3):c.715G>A (p.Glu239Lys)	rs387906853
NM_005902.4(SMAD3):c.788C>T (p.Pro263Leu)	rs387906855
NM_005902.4(SMAD3):c.836G>A (p.Arg279Lys)	rs387906852
NM_005902.4(SMAD3):c.859C>T (p.Arg287Trp)	rs387906850
NM_005909.5(MAP1B):c.3316C>T (p.Arg1106Ter)	rs1554055106
NM_005909.5(MAP1B):c.907C>T (p.Arg303Ter)	rs1554054831
NM_005912.3(MC4R):c.148G>A (p.Val50Met)	rs121913557
NM_005912.3(MC4R):c.374_375inv (p.Ile125Lys)
NM_005912.3(MC4R):c.656C>T (p.Ala219Val)	rs121913567
NM_005912.3(MC4R):c.947T>G (p.Ile316Ser)	rs121913564
NM_005921.2(MAP3K1):c.1846G>A (p.Gly616Arg)	rs143853590
NM_005932.4(MIPEP):c.1027A>G (p.Lys343Glu)	rs1057518741
NM_005956.4(MTHFD1):c.152T>C (p.Leu51Pro)	rs1555336810
NM_005956.4(MTHFD1):c.806C>T (p.Thr269Ile)	rs1555337681
NM_005957.5(MTHFR):c.1015T>G (p.Trp339Gly)	rs267606886
NM_005982.4(SIX1):c.373G>A (p.Glu125Lys)	rs797044960
NM_005984.5(SLC25A1):c.205G>T (p.Asp69Tyr)	rs2083996886
NM_005984.5(SLC25A1):c.517_526del (p.Arg173fs)	rs483352911
NM_006003.3(UQCRFS1):c.215-1G>C	rs1568344751
NM_006005.3(WFS1):c.1385_1393del (p.Glu462_Thr464del)	rs1578609780
NM_006005.3(WFS1):c.1441_1447dup (p.Val483fs)	rs727503745
NM_006005.3(WFS1):c.2051C>T (p.Ala684Val)	rs387906930
NM_006005.3(WFS1):c.2590G>A (p.Glu864Lys)	rs74315205
NM_006005.3(WFS1):c.2643_2644del (p.Phe883fs)	rs863224268
NM_006005.3(WFS1):c.2648_2651del (p.Phe883fs)	rs797045076
NM_006005.3(WFS1):c.409_424dup (p.Val142fs)	rs1362648752
NM_006009.4(TUBA1A):c.1264C>T (p.Arg422Cys)	rs137853049
NM_006013.5(RPL10):c.232A>G (p.Lys78Glu)	rs1131692040
NM_006016.6(CD164):c.574C>T (p.Arg192Ter)	rs876661402
NM_006017.3(PROM1):c.1117C>T (p.Arg373Cys)	rs137853006
NM_006019.4(TCIRG1):c.117+4A>T	rs751881962
NM_006031.6(PCNT):c.658G>T (p.Glu220Ter)	rs119479061
NM_006059.4(LAMC3):c.903_904del (p.Cys301_Glu302delinsTer)	rs761516738
NM_006086.4(TUBB3):c.1249G>A (p.Asp417Asn)	rs267607164
NM_006087.4(TUBB4A):c.1228G>A (p.Glu410Lys)	rs587777428
NM_006087.4(TUBB4A):c.467G>T (p.Arg156Leu)	rs587777429
NM_006087.4(TUBB4A):c.533C>G (p.Thr178Arg)	rs587777468
NM_006087.4(TUBB4A):c.568C>T (p.His190Tyr)	rs761635539
NM_006088.6(TUBB4B):c.1171C>T (p.Arg391Cys)	rs1554786802
NM_006088.6(TUBB4B):c.1172G>A (p.Arg391His)	rs1554786803
NM_006129.5(BMP1):c.747C>G (p.Phe249Leu)	rs398122891
NM_006133.3(DAGLA):c.2613dup (p.Ser872fs)	rs1275424656
NM_006147.4(IRF6):c.250C>T (p.Arg84Cys)	rs121434226
NM_006147.4(IRF6):c.870_888delinsA (p.Phe290_Asp296delinsLeu)	rs587776569
NM_006160.4(NEUROD2):c.388G>C (p.Glu130Gln)	rs1323339153
NM_006180.6(NTRK2):c.1301A>G (p.Tyr434Cys)	rs886041091
NM_006182.4(DDR2):c.2219A>G (p.Tyr740Cys)	rs1558081627
NM_006182.4(DDR2):c.2254C>T (p.Arg752Cys)	rs121964863
NM_006206.6(PDGFRA):c.1682T>A (p.Val561Asp)	rs121908586
NM_006206.6(PDGFRA):c.2525A>T (p.Asp842Val)	rs121908585
NM_006208.3(ENPP1):c.2101-11del	rs397832689
NM_006218.4(PIK3CA):c.1624G>A (p.Glu542Lys)	rs121913273
NM_006218.4(PIK3CA):c.1633G>A (p.Glu545Lys)	rs104886003
NM_006218.4(PIK3CA):c.1636C>A (p.Gln546Lys)	rs121913286
NM_006218.4(PIK3CA):c.2740G>A (p.Gly914Arg)	rs587776932
NM_006218.4(PIK3CA):c.3139C>T (p.His1047Tyr)	rs121913281
NM_006218.4(PIK3CA):c.3140A>G (p.His1047Arg)	rs121913279
NM_006218.4(PIK3CA):c.344G>C (p.Arg115Pro)	rs200018596
NM_006231.4(POLE):c.1270C>G (p.Leu424Val)	rs483352909
NM_006236.3(POU3F3):c.1085G>T (p.Arg362Leu)	rs1158292126
NM_006236.3(POU3F3):c.1220G>T (p.Arg407Leu)	rs1573320988
NM_006236.3(POU3F3):c.196_197delinsT (p.Asp66fs)	rs1573319752
NM_006245.4(PPP2R5D):c.592G>A (p.Glu198Lys)	rs863225082
NM_006245.4(PPP2R5D):c.598G>A (p.Glu200Lys)	rs863225079
NM_006261.5(PROP1):c.112_124del (p.Ser38fs)	rs587776682
NM_006261.5(PROP1):c.301_302del (p.Leu102fs)	rs193922688
NM_006261.5(PROP1):c.582G>A (p.Trp194Ter)	rs121917845
NM_006265.3(RAD21):c.1774_1776del (p.Gln592del)	rs1563686762
NM_006267.5(RANBP2):c.1966A>G (p.Ile656Val)	rs121434504
NM_006280.3(SSR4):c.358_359del (p.Arg120fs)	rs794729223
NM_006280.3(SSR4):c.417+1G>A	rs1057518735
NM_006295.3(VARS1):c.2653C>T (p.Leu885Phe)	rs1060499734
NM_006296.7(VRK2):c.*102_*105dup	rs759217526
NM_006306.4(SMC1A):c.2351T>C (p.Ile784Thr)	rs387906702
NM_006329.4(FBLN5):c.1117C>T (p.Arg373Cys)	rs864309526
NM_006348.5(COG5):c.2242ATT[3] (p.Ile749dup)	rs751641438
NM_006348.5(COG5):c.2T>G (p.Met1Arg)	rs375702393
NM_006364.4(SEC23A):c.1795G>A (p.Glu599Lys)	rs2139193533
NM_006390.4(IPO8):c.262G>A (p.Asp88Asn)	rs1234764565
NM_006397.3(RNASEH2A):c.635A>T (p.Asn212Ile)	rs377244188
NM_006408.4(AGR2):c.211C>A (p.Pro71Thr)	rs2534653268
NM_006408.4(AGR2):c.349C>T (p.His117Tyr)	rs780638101
NM_006412.4(AGPAT2):c.415TTC[1] (p.Phe140del)	rs387906356
NM_006412.4(AGPAT2):c.514G>A (p.Glu172Lys)	rs748157664
NM_006412.4(AGPAT2):c.685G>T (p.Glu229Ter)	rs1255380257
NM_006415.4(SPTLC1):c.1055C>T (p.Ala352Val)	rs267607088
NM_006415.4(SPTLC1):c.1160G>C (p.Gly387Ala)	rs119482084
NM_006416.5(SLC35A1):c.467C>G (p.Thr156Arg)	rs578205635
NM_006416.5(SLC35A1):c.586G>A (p.Glu196Lys)	rs1554166844
NM_006416.5(SLC35A1):c.752-157_752-156insCTCA	rs10638303
NM_006421.5(ARFGEF1):c.2392G>A (p.Asp798Asn)	rs1840520188
NM_006432.5(NPC2):c.436C>T (p.Gln146Ter)	rs104894457
NM_006439.5(MAB21L2):c.145G>A (p.Glu49Lys)	rs587777513
NM_006439.5(MAB21L2):c.151C>T (p.Arg51Cys)	rs587777512
NM_006439.5(MAB21L2):c.152G>A (p.Arg51His)	rs587777511
NM_006445.4(PRPF8):c.6926A>C (p.His2309Pro)	rs121434236
NM_006486.3(FBLN1):c.1190G>T (p.Cys397Phe)	rs397509432
NM_006493.4(CLN5):c.907G>T (p.Glu303Ter)	rs121908292
NM_006494.4(ERF):c.194G>A (p.Arg65Gln)	rs587777009
NM_006494.4(ERF):c.891_892del (p.Gly299fs)	rs587777007
NM_006496.4(GNAI3):c.140G>A (p.Ser47Asn)	rs1553223897
NM_006513.4(SARS1):c.638G>T (p.Arg213Leu)	rs539161490
NM_006513.4(SARS1):c.969+1_969+3del	rs2526365201
NM_006514.4(SCN10A):c.3910G>A (p.Ala1304Thr)	rs142173735
NM_006516.4(SLC2A1):c.1402C>T (p.Arg468Trp)	rs267607059
NM_006516.4(SLC2A1):c.376C>T (p.Arg126Cys)	rs80359818
NM_006516.4(SLC2A1):c.377G>A (p.Arg126His)	rs80359816
NM_006516.4(SLC2A1):c.766_767delinsGT (p.Lys256Val)	rs80359822
NM_006516.4(SLC2A1):c.823G>A (p.Ala275Thr)	rs121909740
NM_006517.5(SLC16A2):c.449C>T (p.Ala150Val)	rs104894936
NM_006517.5(SLC16A2):c.461TCT[2] (p.Phe156del)	rs387906501
NM_006521.6(TFE3):c.350G>A (p.Arg117Gln)	rs2147777346
NM_006521.6(TFE3):c.560C>T (p.Thr187Met)	rs2064742925
NM_006545.5(NPRL2):c.100C>T (p.Arg34Ter)	rs886037963
NM_006545.5(NPRL2):c.883C>T (p.Arg295Ter)	rs886037964
NM_006563.5(KLF1):c.954dup (p.Arg319fs)	rs397514445
NM_006565.4(CTCF):c.1699C>T (p.Arg567Trp)	rs879255516
NM_006567.5(FARS2):c.431A>G (p.Tyr144Cys)	rs397514610
NM_006567.5(FARS2):c.515TGG[2] (p.Val174del)	rs1554169392
NM_006567.5(FARS2):c.593G>T (p.Arg198Leu)	rs750702672
NM_006567.5(FARS2):c.973G>T (p.Asp325Tyr)	rs764427452
NM_006580.4(CLDN16):c.383G>A (p.Gly128Asp)	rs104893723
NM_006580.4(CLDN16):c.485T>G (p.Phe162Cys)	rs104893726
NM_006593.4(TBR1):c.1588_1594dup (p.Thr532fs)	rs869312704
NM_006618.5(KDM5B):c.4109T>G (p.Leu1370Ter)	rs1558478047
NM_006623.4(PHGDH):c.403C>T (p.Arg135Trp)	rs267606949
NM_006623.4(PHGDH):c.781G>A (p.Val261Met)	rs267606947
NM_006651.4(CPLX1):c.315C>A (p.Cys105Ter)	rs1553851860
NM_006651.4(CPLX1):c.322G>T (p.Glu108Ter)	rs1060499735
NM_006660.5(CLPX):c.893G>A (p.Gly298Asp)	rs1555412542
NM_006662.3(SRCAP):c.6985C>T (p.Arg2329Ter)	rs1555465891
NM_006715.4(MAN2C1):c.2733_2734del (p.His911fs)	rs763231900
NM_006734.4(HIVEP2):c.2827C>T (p.Arg943Ter)	rs869312841
NM_006744.4(RBP4):c.176T>A (p.Ile59Asn)	rs121918584
NM_006744.4(RBP4):c.278G>A (p.Gly93Asp)	rs121918585
NM_006757.4(TNNT3):c.187C>T (p.Arg63Cys)	rs199474721
NM_006757.4(TNNT3):c.188G>A (p.Arg63His)	rs121434638
NM_006772.3(SYNGAP1):c.1685C>T (p.Pro562Leu)	rs397514670
NM_006772.3(SYNGAP1):c.2294+1G>A	rs1554121970
NM_006790.3(MYOT):c.116C>T (p.Ser39Phe)	rs121908461
NM_006790.3(MYOT):c.164C>T (p.Ser55Phe)	rs121908457
NM_006790.3(MYOT):c.284G>T (p.Ser95Ile)	rs121908460
NM_006793.5(PRDX3):c.508C>T (p.Arg170Ter)	rs140609531
NM_006796.3(AFG3L2):c.1010G>A (p.Gly337Glu)	rs1908566777
NM_006796.3(AFG3L2):c.1875G>A (p.Met625Ile)	rs727502823
NM_006796.3(AFG3L2):c.1961C>T (p.Thr654Ile)	rs151344513
NM_006796.3(AFG3L2):c.916A>G (p.Lys306Glu)	rs1908569446
NM_006846.4(SPINK5):c.1431-12G>A	rs368134354
NM_006852.6(TLK2):c.2092C>T (p.Arg698Ter)	rs1555669421
NM_006852.6(TLK2):c.890G>A (p.Gly297Asp)	rs1555639254
NM_006854.4(KDELR2):c.398C>T (p.Pro133Leu)	rs1785501859
NM_006885.4(ZFHX3):c.10142_10165del (p.Arg3381_Gln3388del)	rs727502780
NM_006887.5(ZFP36L2):c.922_930del (p.Ser308_Ser310del)	rs150534134
NM_006888.6(CALM1):c.161A>T (p.Asn54Ile)	rs267607276
NM_006888.6(CALM1):c.268T>C (p.Phe90Leu)	rs730882253
NM_006888.6(CALM1):c.293A>G (p.Asn98Ser)	rs267607277
NM_006891.4(CRYGD):c.70C>A (p.Pro24Thr)	rs28931605
NM_006895.3(HNMT):c.623T>C (p.Leu208Pro)	rs745756308
NM_006908.5(RAC1):c.190T>G (p.Tyr64Asp)	rs1554263626
NM_006908.5(RAC1):c.191A>G (p.Tyr64Cys)	rs2115201389
NM_006912.6(RIT1):c.170C>G (p.Ala57Gly)	rs672601334
NM_006912.6(RIT1):c.242A>G (p.Glu81Gly)	rs869025193
NM_006912.6(RIT1):c.244T>G (p.Phe82Val)	rs869025194
NM_006912.6(RIT1):c.246T>G (p.Phe82Leu)	rs730881014
NM_006912.6(RIT1):c.270G>C (p.Met90Ile)	rs483352822
NM_006918.5(SC5D):c.632G>A (p.Gly211Asp)	rs104894296
NM_006922.4(SCN3A):c.2624T>C (p.Ile875Thr)	rs1057518801
NM_006922.4(SCN3A):c.3998C>T (p.Pro1333Leu)	rs1057520753
NM_006922.4(SCN3A):c.5306T>C (p.Val1769Ala)	rs1553517274
NM_006924.5(SRSF1):c.478G>A (p.Val160Met)	rs2509285683
NM_006929.5(SKIC2):c.3561_3581del (p.Ser1189_Leu1195del)	rs1582192007
NM_006941.4(SOX10):c.1400_*10del (p.Ter467Xaa)	rs397515368
NM_006946.4(SPTBN2):c.1438C>T (p.Arg480Trp)	rs397514749
NM_006949.4(STXBP2):c.1621G>A (p.Gly541Ser)	rs61736587
NM_006949.4(STXBP2):c.626T>C (p.Leu209Pro)	rs121918541
NM_006978.3(RNF113A):c.903_910del (p.Gln302fs)	rs1603374549
NM_007055.4(POLR3A):c.*18C>T	rs1248039821
NM_007055.4(POLR3A):c.1800C>T (p.Ile600=)	rs1564620047
NM_007055.4(POLR3A):c.1909+18G>A	rs267608677
NM_007055.4(POLR3A):c.2474C>G (p.Ser825Ter)	rs1564617848
NM_007055.4(POLR3A):c.2554A>G (p.Met852Val)	rs267608671
NM_007055.4(POLR3A):c.3206G>A (p.Arg1069Gln)	rs778985686
NM_007055.4(POLR3A):c.3G>T (p.Met1Ile)	rs1168641193
NM_007055.4(POLR3A):c.4003G>A (p.Gly1335Arg)	rs768222183
NM_007059.4(KPTN):c.714_731dup (p.Gln246_Asp247insMetTrpSerValLeuGln)	rs587777148
NM_007118.4(TRIO):c.2302C>T (p.Gln768Ter)	rs1554062562
NM_007118.4(TRIO):c.4283G>A (p.Arg1428Gln)	rs879255626
NM_007126.5(VCP):c.1184A>G (p.Asp395Gly)	rs1828721782
NM_007126.5(VCP):c.553G>A (p.Glu185Lys)	rs864309501
NM_007126.5(VCP):c.572G>A (p.Arg191Gln)	rs121909334
NM_007144.3(PCGF2):c.193C>T (p.Pro65Ser)	rs1567941256
NM_007144.3(PCGF2):c.194C>T (p.Pro65Leu)	rs1567941252
NM_007180.3(TREH):c.90-9_106del	rs527655595
NM_007186.6(CEP250):c.3337A>T (p.Lys1113Ter)	rs1568820302
NM_007186.6(CEP250):c.3463C>T (p.Arg1155Ter)	rs749314857
NM_007192.4(SUPT16H):c.2200C>T (p.Arg734Trp)	rs2139399670
NM_007217.4(PDCD10):c.557+4_557+7del	rs1553759042
NM_007272.3(CTRC):c.738_761del (p.Lys247_Arg254del)	rs515726210
NM_007289.4(MME):c.1861T>C (p.Cys621Arg)	rs879253752
NM_007289.4(MME):c.467del (p.Pro156fs)	rs749320057
NM_007294.4(BRCA1):c.3756_3759del (p.Ser1253fs)	rs80357868
NM_007294.4(BRCA1):c.4065_4068del (p.Asn1355fs)	rs80357508
NM_007294.4(BRCA1):c.4327C>G (p.Arg1443Gly)	rs41293455
NM_007294.4(BRCA1):c.5095C>T (p.Arg1699Trp)	rs55770810
NM_007294.4(BRCA1):c.5266dup (p.Gln1756fs)	rs80357906
NM_007294.4(BRCA1):c.5324T>A (p.Met1775Lys)	rs41293463
NM_007294.4(BRCA1):c.594_597delTGTG	rs797045175
NM_007294.4(BRCA1):c.68_69del (p.Glu23fs)	rs80357914
NM_007315.4(STAT1):c.1151G>A (p.Gly384Asp)	rs796065052
NM_007315.4(STAT1):c.1760_1761del (p.Glu587fs)	rs587776713
NM_007317.3(KIF22):c.443C>T (p.Pro148Leu)	rs193922921
NM_007317.3(KIF22):c.446G>A (p.Arg149Gln)	rs193922922
NM_007327.4(GRIN1):c.1858G>A (p.Gly620Arg)	rs797045047
NM_007327.4(GRIN1):c.1858G>C (p.Gly620Arg)	rs797045047
NM_007373.4(SHOC2):c.519G>A (p.Met173Ile)	rs730881020
NM_007375.4(TARDBP):c.1042G>T (p.Gly348Cys)	rs80356733
NM_007375.4(TARDBP):c.1144G>A (p.Ala382Thr)	rs367543041
NM_007375.4(TARDBP):c.869G>C (p.Gly290Ala)	rs121908395
NM_007375.4(TARDBP):c.892G>A (p.Gly298Ser)	rs4884357
NM_012062.5(DNM1L):c.1048G>A (p.Gly350Arg)	rs879255689
NM_012062.5(DNM1L):c.1085G>A (p.Gly362Asp)	rs879255685
NM_012062.5(DNM1L):c.346_347del (p.Glu116fs)	rs879255687
NM_012079.6(DGAT1):c.314T>C (p.Leu105Pro)	rs782257835
NM_012079.6(DGAT1):c.629_631del (p.Ser210del)	rs782577883
NM_012079.6(DGAT1):c.884T>C (p.Leu295Pro)	rs863225093
NM_012140.5(SLC25A10):c.304A>T (p.Lys102Ter)	rs1555703272
NM_012179.4(FBXO7):c.65C>T (p.Thr22Met)	rs121918305
NM_012193.4(FZD4):c.1501_1502del (p.Leu501fs)	rs80358303
NM_012199.5(AGO1):c.595G>A (p.Gly199Ser)	rs2148711383
NM_012200.4(B3GAT3):c.830G>A (p.Arg277Gln)	rs387906937
NM_012203.2(GRHPR):c.866_867del (p.Val289fs)	rs180177321
NM_012205.3(HAAO):c.128G>A (p.Arg43Lys)	rs1672558841
NM_012208.4(HARS2):c.1102G>T (p.Val368Leu)	rs376177973
NM_012243.3(SLC35A3):c.899_900delinsA (p.Leu300fs)	rs2101501082
NM_012281.3(KCND2):c.1210G>A (p.Val404Met)	rs587777631
NM_012309.5(SHANK2):c.2521C>T (p.Arg841Ter)	rs2135751909
NM_012388.4(BLOC1S6):c.200C>G (p.Ser67Ter)	rs772475341
NM_012388.4(BLOC1S6):c.319_320delinsAT (p.Glu107Met)	rs1595560288
NM_012434.5(SLC17A5):c.1001C>G (p.Pro334Arg)	rs119491110
NM_012434.5(SLC17A5):c.802_816del (p.Ser268_Asn272del)	rs386833994
NM_012479.4(YWHAG):c.387C>G (p.Asp129Glu)	rs1554616630
NM_012479.4(YWHAG):c.394C>T (p.Arg132Cys)	rs1554616628
NM_012479.4(YWHAG):c.44A>C (p.Glu15Ala)	rs1554618767
NM_013245.3(VPS4A):c.83C>T (p.Ala28Val)	rs1965431981
NM_013254.4(TBK1):c.1436_1437del (p.Val479fs)	rs876657405
NM_013296.5(GPSM2):c.1473del (p.Phe492fs)	rs772372530
NM_013328.4(PYCR2):c.595C>T (p.Arg199Trp)	rs758595075
NM_013328.4(PYCR2):c.773T>C (p.Val258Ala)	rs886037932
NM_013335.4(GMPPA):c.545G>A (p.Gly182Asp)	rs397518462
NM_013339.4(ALG6):c.1432T>C (p.Ser478Pro)	rs121908444
NM_013339.4(ALG6):c.894AAT[1] (p.Ile299del)	rs387906338
NM_013382.7(POMT2):c.1333-14G>A	rs918556979
NM_013386.5(SLC25A24):c.649C>T (p.Arg217Cys)	rs1553253990
NM_013432.5(TONSL):c.1602_1612del (p.Ala536fs)	rs1586692058
NM_013432.5(TONSL):c.2638_2647delinsGG (p.Arg880fs)	rs1586687279
NM_013432.5(TONSL):c.3589T>C (p.Ser1197Pro)	rs1586681982
NM_013435.3(RAX):c.543+3A>G	rs2511488169
NM_013438.5(UBQLN1):c.377del (p.Asn126fs)	rs1060499753
NM_013444.4(UBQLN2):c.1490C>T (p.Pro497Leu)	rs387906709
NM_014000.3(VCL):c.2862_2864del (p.Leu955del)	rs397517237
NM_014003.4(DHX38):c.971G>A (p.Arg324Gln)	rs766053952
NM_014003.4(DHX38):c.995G>A (p.Gly332Asp)	rs587777554
NM_014009.4(FOXP3):c.1150G>A (p.Ala384Thr)	rs122467170
NM_014009.4(FOXP3):c.967+4A>G	rs1426535368
NM_014009.4(FOXP3):c.970T>C (p.Phe324Leu)	rs122467173
NM_014023.4(WDR37):c.356C>T (p.Ser119Phe)	rs1589088690
NM_014043.4(CHMP2B):c.442G>T (p.Asp148Tyr)	rs63750653
NM_014049.5(ACAD9):c.1249C>T (p.Arg417Cys)	rs368949613
NM_014049.5(ACAD9):c.130T>A (p.Phe44Ile)	rs387907041
NM_014049.5(ACAD9):c.976G>C (p.Ala326Pro)	rs115532916
NM_014055.4(IFT81):c.1300CTT[1] (p.Leu435del)	rs1555266475
NM_014055.4(IFT81):c.785T>G (p.Leu262Ter)	rs576969206
NM_014140.4(SMARCAL1):c.1146_1147+2del	rs1574450161
NM_014165.4(NDUFAF4):c.7G>C (p.Ala3Pro)	rs1554197721
NM_014208.3(DSPP):c.16T>G (p.Tyr6Asp)	rs121912988
NM_014225.6(PPP2R1A):c.544C>T (p.Arg182Trp)	rs786205227
NM_014225.6(PPP2R1A):c.773G>A (p.Arg258His)	rs863225094
NM_014231.5(VAMP1):c.340del (p.Ile114fs)	rs746220436
NM_014233.4(UBTF):c.628G>A (p.Glu210Lys)	rs1555582065
NM_014241.4(HACD1):c.458G>A (p.Trp153Ter)	rs2493868037
NM_014244.5(ADAMTS2):c.2384G>A (p.Trp795Ter)	rs137853147
NM_014252.4(SLC25A15):c.212T>A (p.Leu71Gln)	rs121908534
NM_014252.4(SLC25A15):c.553TTC[3] (p.Phe188del)	rs202247803
NM_014268.4(MAPRE2):c.427C>T (p.Arg143Cys)	rs864309720
NM_014270.5(SLC7A9):c.775G>A (p.Gly259Arg)	rs121908483
NM_014271.4(IL1RAPL1):c.1460G>A (p.Trp487Ter)	rs122461161
NM_014297.5(ETHE1):c.493G>C (p.Asp165His)
NM_014297.5(ETHE1):c.79C>A (p.Gln27Lys)	rs749803238
NM_014319.5(LEMD3):c.240_263del (p.Pro81_Gly88del)	rs756800816
NM_014334.4(FRRS1L):c.584_586del (p.Gly195del)	rs878853282
NM_014336.5(AIPL1):c.1053_1064del (p.Ala352_Pro355del)	rs281865195
NM_014362.4(HIBCH):c.1128dup (p.Lys377Ter)	rs863225062
NM_014362.4(HIBCH):c.488G>T (p.Cys163Phe)	rs74832989
NM_014362.4(HIBCH):c.950G>A (p.Gly317Glu)	rs786204004
NM_014363.6(SACS):c.3328dup (p.Ile1110fs)	rs770866403
NM_014363.6(SACS):c.5836T>C (p.Trp1946Arg)	rs137853017
NM_014423.4(AFF4):c.761C>G (p.Thr254Ser)	rs786205679
NM_014423.4(AFF4):c.772C>T (p.Arg258Trp)	rs786205680
NM_014491.4(FOXP2):c.1658G>A (p.Arg553His)	rs121908377
NM_014495.4(ANGPTL3):c.439_442del (p.Thr146_Asn147insTer)	rs398122987
NM_014516.4(CNOT3):c.732dup (p.Ser245fs)	rs753475896
NM_014550.4(CARD10):c.1258C>T (p.Arg420Cys)	rs748488870
NM_014585.6(SLC40A1):c.470A>G (p.Asp157Gly)	rs104893663
NM_014585.6(SLC40A1):c.476TTG[3] (p.Val162del)	rs878854984
NM_014588.6(VSX1):c.479G>A (p.Gly160Asp)	rs74315433
NM_014625.4(NPHS2):c.479A>G (p.Asp160Gly)	rs74315346
NM_014625.4(NPHS2):c.855_856del (p.Arg286fs)	rs749740335
NM_014639.4(SKIC3):c.2578-7_2578-3del	rs746874042
NM_014672.4(PRORP):c.1241C>T (p.Ala414Val)	rs143102943
NM_014694.4(ADAMTSL2):c.338G>A (p.Arg113His)	rs113994122
NM_014698.3(TMEM63A):c.1699G>A (p.Gly567Ser)	rs1576074651
NM_014714.4(IFT140):c.2577+25G>A	rs1423102192
NM_014714.4(IFT140):c.2767_2768+2del	rs769075694
NM_014727.3(KMT2B):c.1633C>T (p.Arg545Ter)	rs1057519279
NM_014727.3(KMT2B):c.1690C>T (p.Arg564Ter)	rs1057519283
NM_014727.3(KMT2B):c.2428C>T (p.Gln810Ter)	rs1057519281
NM_014727.3(KMT2B):c.4545C>A (p.Tyr1515Ter)	rs1057519284
NM_014727.3(KMT2B):c.7549C>T (p.Arg2517Trp)	rs1057519285
NM_014738.6(TMEM94):c.810del (p.Asp270fs)	rs1567950778
NM_014754.3(PTDSS1):c.1058A>G (p.Gln353Arg)	rs587777088
NM_014762.4(DHCR24):c.1412A>C (p.Tyr471Ser)	rs28939092
NM_014795.4(ZEB2):c.-69-1G>A	rs587776612
NM_014844.5(TECPR2):c.1028_1032del (p.Lys343fs)	rs1359602238
NM_014844.5(TECPR2):c.2998G>T (p.Asp1000Tyr)	rs1889962674
NM_014844.5(TECPR2):c.4103G>A (p.Trp1368Ter)	rs1891340555
NM_014844.5(TECPR2):c.566C>T (p.Thr189Ile)	rs1888974156
NM_014844.5(TECPR2):c.774del (p.Asp259fs)	rs772483312
NM_014845.6(FIG4):c.1260_1261del (p.Thr422fs)	rs397509394
NM_014845.6(FIG4):c.294del (p.Phe98fs)	rs1562648373
NM_014845.6(FIG4):c.759del (p.Phe254fs)	rs764717219
NM_014846.4(WASHC5):c.1876G>T (p.Val626Phe)	rs80338867
NM_014874.4(MFN2):c.491C>T (p.Ala164Val)	rs1553142699
NM_014874.4(MFN2):c.839G>A (p.Arg280His)	rs28940294
NM_014875.3(KIF14):c.4071G>A (p.Gln1357=)	rs1553254322
NM_014905.5(GLS):c.866A>T (p.Lys289Ile)	rs2124851950
NM_014908.4(DOLK):c.1222C>G (p.His408Asp)	rs387907030
NM_014915.3(ANKRD26):c.-128G>A	rs1589393809
NM_014915.3(ANKRD26):c.-134G>A	rs863223318
NM_014927.5(CNKSR2):c.2134C>T (p.Arg712Ter)	rs904072058
NM_014946.4(SPAST):c.1216A>G (p.Ile406Val)	rs587777757
NM_014967.5(FAN1):c.1375+1G>A	rs1305708707
NM_014975.3(MAST1):c.580GAG[1] (p.Glu195del)	rs1568408280
NM_015001.3(SPEN):c.5806C>T (p.Arg1936Ter)	rs2071226510
NM_015015.3(KDM4B):c.3284C>T (p.Pro1095Leu)	rs920029769
NM_015021.3(ZNF292):c.1360C>T (p.Arg454Ter)	rs1215967523
NM_015021.3(ZNF292):c.265C>T (p.Arg89Ter)	rs865909396
NM_015021.3(ZNF292):c.6160_6161del (p.Glu2054fs)	rs1301328139
NM_015046.7(SETX):c.1166T>C (p.Leu389Ser)	rs29001584
NM_015046.7(SETX):c.6407G>A (p.Arg2136His)	rs121434378
NM_015046.7(SETX):c.6638C>T (p.Pro2213Leu)	rs28940290
NM_015046.7(SETX):c.8C>T (p.Thr3Ile)	rs28941475
NM_015076.5(CDK19):c.92C>A (p.Thr31Asn)	rs1783518295
NM_015100.4(POGZ):c.2590C>T (p.Arg864Ter)	rs756659230
NM_015100.4(POGZ):c.3456_3457del (p.Glu1154fs)	rs869320764
NM_015114.3(ANKLE2):c.601G>T (p.Gly201Trp)	rs1185537869
NM_015154.3(MESD):c.631_632del (p.Lys211fs)	rs745891632
NM_015166.4(MLC1):c.176G>A (p.Gly59Glu)	rs80358242
NM_015166.4(MLC1):c.594_597del (p.Ser197_Tyr198insTer)	rs267607236
NM_015178.3(RHOBTB2):c.1355C>G (p.Ala452Gly)	rs1554504656
NM_015178.3(RHOBTB2):c.1382G>A (p.Arg461His)	rs1554504663
NM_015178.3(RHOBTB2):c.1462A>G (p.Asn488Asp)	rs1554504678
NM_015178.3(RHOBTB2):c.1465C>T (p.Arg489Trp)	rs1554504681
NM_015213.4(DENND5A):c.1622A>G (p.Asp541Gly)	rs1057519309
NM_015215.4(CAMTA1):c.4621C>T (p.Arg1541Ter)	rs2096866595
NM_015267.4(CUX2):c.1768G>A (p.Glu590Lys)	rs1565909334
NM_015271.5(TRIM2):c.2000A>C (p.Asp667Ala)	rs879253863
NM_015278.5(SASH1):c.1519T>G (p.Ser507Ala)	rs1562489143
NM_015278.5(SASH1):c.1525G>A (p.Glu509Lys)	rs1562489156
NM_015278.5(SASH1):c.1537A>C (p.Ser513Arg)	rs1237876014
NM_015278.5(SASH1):c.1544T>C (p.Leu515Pro)	rs1562489224
NM_015278.5(SASH1):c.1556G>A (p.Ser519Asn)	rs1562489240
NM_015278.5(SASH1):c.1651T>C (p.Tyr551His)	rs1562490566
NM_015278.5(SASH1):c.1651T>G (p.Tyr551Asp)	rs1562490566
NM_015278.5(SASH1):c.1784T>C (p.Met595Thr)	rs1562491501
NM_015294.6(TRIM37):c.1346dup (p.Ser450fs)	rs386834000
NM_015294.6(TRIM37):c.1949-12A>G	rs1409660715
NM_015294.6(TRIM37):c.810-1G>A	rs386834006
NM_015294.6(TRIM37):c.838_842del (p.Thr280fs)	rs386834007
NM_015295.3(SMCHD1):c.408A>C (p.Glu136Asp)	rs1057519643
NM_015329.4(MAU2):c.1612C>T (p.Gln538Ter)
NM_015329.4(MAU2):c.1801del (p.Ala601fs)
NM_015330.6(SPECC1L):c.1246G>A (p.Ala416Thr)	rs1569420568
NM_015330.6(SPECC1L):c.1249A>C (p.Thr417Pro)	rs111653895
NM_015330.6(SPECC1L):c.3293G>A (p.Arg1098Gln)	rs1555874726
NM_015340.4(LARS2):c.1313A>G (p.Asp438Gly)	rs1575289366
NM_015340.4(LARS2):c.2099C>T (p.Thr700Ile)	rs1575308774
NM_015340.4(LARS2):c.388G>A (p.Ala130Thr)	rs1575240334
NM_015365.3(AMMECR1):c.429T>A (p.Tyr143Ter)	rs765498367
NM_015365.3(AMMECR1):c.502C>T (p.Arg168Ter)	rs1057519338
NM_015378.4(VPS13D):c.10562A>G (p.Asn3521Ser)	rs1557737087
NM_015412.4(RMP64):c.280C>T (p.Arg94Cys)	rs1236015814
NM_015425.6(POLR1A):c.3988_3990del (p.Glu1330del)	rs1064794956
NM_015443.4(KANSL1):c.985_986del (p.Leu329fs)	rs281865473
NM_015450.3(POT1):c.1687-1G>A	rs587777473
NM_015450.3(POT1):c.1851_1852del (p.Asp617fs)	rs758673417
NM_015450.3(POT1):c.266A>G (p.Tyr89Cys)	rs587777472
NM_015450.3(POT1):c.283G>T (p.Gly95Cys)	rs797045168
NM_015450.3(POT1):c.410G>A (p.Arg137His)	rs587777475
NM_015450.3(POT1):c.818G>A (p.Arg273Gln)	rs587777476
NM_015466.4(PTPN23):c.3886_3888del (p.Lys1296del)	rs751809435
NM_015474.4(SAMHD1):c.1609-1G>C	rs515726143
NM_015488.5(PNKD):c.20C>T (p.Ala7Val)	rs121434512
NM_015506.3(MMACHC):c.158T>C (p.Leu53Pro)	rs756980496
NM_015506.3(MMACHC):c.276G>A (p.Glu92=)	rs556977618
NM_015506.3(MMACHC):c.347T>C (p.Leu116Pro)	rs121918240
NM_015557.3(CHD5):c.940G>T (p.Glu314Ter)	rs754586094
NM_015599.3(PGM3):c.1501G>C (p.Glu501Gln)	rs587777413
NM_015599.3(PGM3):c.737A>G (p.Asn246Ser)	rs587777562
NM_015610.4(WIPI2):c.724C>T (p.Arg242Trp)	rs1783201574
NM_015629.4(PRPF31):c.527+3A>G	rs587776590
NM_015662.3(IFT172):c.4607T>C (p.Leu1536Pro)	rs587777080
NM_015693.4(INTU):c.1063G>T (p.Glu355Ter)	rs1037828930
NM_015702.3(MMADHC):c.696+3_696+6del	rs397509364
NM_015713.5(RRM2B):c.662A>G (p.Asn221Ser)	rs863224193
NM_015721.3(GEMIN4):c.2452T>C (p.Trp818Arg)	rs730882219
NM_015836.4(WARS2):c.797del (p.Pro266fs)	rs746478253
NM_015909.4(NBAS):c.2708T>G (p.Leu903Arg)	rs368196005
NM_015915.5(ATL1):c.1222A>G (p.Met408Val)	rs28939094
NM_015915.5(ATL1):c.1243C>T (p.Arg415Trp)	rs119476050
NM_015915.5(ATL1):c.1244G>A (p.Arg415Gln)	rs397514712
NM_015915.5(ATL1):c.1306_1308del (p.Asn436del)	rs1595625206
NM_015915.5(ATL1):c.1519dup (p.Ile507fs)	rs863223314
NM_015915.5(ATL1):c.715C>T (p.Arg239Cys)	rs119476046
NM_015937.6(PIGT):c.547A>C (p.Thr183Pro)	rs587777027
NM_015981.4(CAMK2A):c.704C>T (p.Pro235Leu)	rs864309606
NM_016013.4(NDUFAF1):c.733G>A (p.Gly245Arg)	rs376344575
NM_016030.6(TRAPPC12):c.145del (p.Glu49fs)	rs1553309983
NM_016032.4(ZDHHC9):c.442C>T (p.Arg148Trp)	rs137852214
NM_016035.5(COQ4):c.197_198delinsAA (p.Arg66Gln)	rs886040973
NM_016035.5(COQ4):c.577C>T (p.Pro193Ser)	rs568200779
NM_016038.4(SBDS):c.24C>A (p.Asn8Lys)	rs28942099
NM_016042.4(EXOSC3):c.712T>C (p.Trp238Arg)	rs672601332
NM_016065.4(MRPS16):c.331C>T (p.Arg111Ter)	rs104894168
NM_016077.5(PTRH2):c.269_270del (p.Ala90fs)	rs786201017
NM_016097.5(IER3IP1):c.80del (p.Phe27fs)	rs863223399
NM_016100.5(NAA20):c.160A>G (p.Met54Val)	rs2146464332
NM_016120.4(RLIM):c.1093C>T (p.Arg365Cys)	rs1569309816
NM_016120.4(RLIM):c.1792G>A (p.Asp598Asn)	rs1569309460
NM_016138.5(COQ7):c.599_600delinsTAATGCATC (p.Lys200fs)	rs1962955145
NM_016145.4(WDR83OS):c.156+1G>T	rs1400540411
NM_016146.6(TRAPPC4):c.191T>C (p.Leu64Pro)	rs1943259006
NM_016188.5(ACTL6B):c.1027G>A (p.Gly343Arg)	rs1131692228
NM_016188.5(ACTL6B):c.1045G>A (p.Gly349Ser)	rs955171017
NM_016188.5(ACTL6B):c.230A>G (p.Asp77Gly)	rs1562851259
NM_016188.5(ACTL6B):c.435CTT[2] (p.Phe147del)	rs772520618
NM_016188.5(ACTL6B):c.617T>C (p.Leu206Pro)	rs1562848909
NM_016188.5(ACTL6B):c.724C>T (p.Gln242Ter)	rs1562848568
NM_016188.5(ACTL6B):c.820C>T (p.Gln274Ter)	rs1562848425
NM_016194.4(GNB5):c.1032C>A (p.Tyr344Ter)	rs749597091
NM_016194.4(GNB5):c.863G>A (p.Arg288Gln)	rs755832695
NM_016204.4(GDF2):c.1282T>C (p.Cys428Arg)
NM_016204.4(GDF2):c.203G>T (p.Arg68Leu)	rs200330818
NM_016204.4(GDF2):c.997C>T (p.Arg333Trp)	rs35129734
NM_016219.5(MAN1B1):c.530_542del (p.Leu177fs)	rs797045688
NM_016222.4(DDX41):c.1574G>A (p.Arg525His)	rs869312828
NM_016284.5(CNOT1):c.76C>T (p.Arg26Ter)	rs1597562609
NM_016302.4(CRBN):c.1171T>C (p.Cys391Arg)	rs797045036
NM_016306.6(DNAJB11):c.161C>G (p.Pro54Arg)	rs1553849919
NM_016306.6(DNAJB11):c.230T>C (p.Leu77Pro)	rs1553850185
NM_016312.3(WBP11):c.612del (p.Gly205fs)	rs1949868116
NM_016327.3(UPB1):c.1034A>T (p.Asn345Ile)	rs1012254852
NM_016406.4(UFC1):c.317C>T (p.Thr106Ile)	rs1553232770
NM_016417.3(GLRX5):c.148AAG[1] (p.Lys51del)	rs869320757
NM_016464.5(TMEM138):c.287A>G (p.His96Arg)	rs387907132
NM_016464.5(TMEM138):c.380C>T (p.Ala127Val)	rs387907133
NM_016464.5(TMEM138):c.389A>G (p.Tyr130Cys)	rs387907135
NM_016529.6(ATP8A2):c.2158C>T (p.Arg720Ter)	rs1566306570
NM_016553.5(NUP62):c.1172A>C (p.Gln391Pro)	rs121917865
NM_016579.4(CD320):c.256GAG[2] (p.Glu88del)	rs150384171
NM_016599.5(MYOZ2):c.142T>C (p.Ser48Pro)	rs199476398
NM_016630.7(SPG21):c.153del (p.Val52fs)	rs2140441397
NM_016734.3(PAX5):c.239C>G (p.Pro80Arg)	rs2494512979
NM_016816.4(OAS1):c.326G>A (p.Cys109Tyr)	rs1555223154
NM_016938.5(EFEMP2):c.608A>C (p.Asp203Ala)	rs193302864
NM_016938.5(EFEMP2):c.835C>T (p.Arg279Cys)	rs119489102
NM_016955.4(SEPSECS):c.1466A>T (p.Asp489Val)	rs773876739
NM_017414.4(USP18):c.1073+1G>A	rs1602534094
NM_017414.4(USP18):c.652C>T (p.Gln218Ter)	rs1085307118
NM_017415.3(KLHL3):c.1007G>T (p.Arg336Ile)	rs199469640
NM_017415.3(KLHL3):c.1582C>T (p.Arg528Cys)	rs199469635
NM_017541.4(CRYGS):c.116C>G (p.Ser39Cys)	rs1184398243
NM_017547.4(FOXRED1):c.1289A>G (p.Asn430Ser)	rs267606830
NM_017613.4(DONSON):c.876C>G (p.Phe292Leu)	rs779803447
NM_017617.5(NOTCH1):c.1285T>C (p.Cys429Arg)	rs587777736
NM_017617.5(NOTCH1):c.4120T>C (p.Cys1374Arg)	rs864622060
NM_017617.5(NOTCH1):c.4487G>A (p.Cys1496Tyr)	rs587781259
NM_017617.5(NOTCH1):c.5965G>A (p.Asp1989Asn)	rs587777734
NM_017617.5(NOTCH1):c.743-1G>T	rs587777735
NM_017635.5(KMT5B):c.559C>T (p.Arg187Ter)	rs114727354
NM_017635.5(KMT5B):c.791G>C (p.Trp264Ser)	rs1555028104
NM_017646.6(TRIT1):c.1204C>T (p.Arg402Ter)	rs367752391
NM_017646.6(TRIT1):c.22C>T (p.Arg8Ter)	rs184469579
NM_017646.6(TRIT1):c.334del (p.Arg112fs)	rs536000212
NM_017649.5(CNNM2):c.806C>G (p.Ser269Trp)	rs794726858
NM_017679.5(BCAS3):c.726T>G (p.Tyr242Ter)	rs2145000036
NM_017739.4(POMGNT1):c.1649G>A (p.Ser550Asn)	rs193919335
NM_017739.4(POMGNT1):c.1814G>C (p.Arg605Pro)	rs267606962
NM_017739.4(POMGNT1):c.1876del (p.Val626fs)	rs386834022
NM_017752.3(TBC1D8B):c.738G>C (p.Gln246His)	rs761410195
NM_017752.3(TBC1D8B):c.872T>C (p.Phe291Ser)	rs1602413491
NM_017777.4(MKS1):c.80+2T>C	rs386834052
NM_017780.4(CHD7):c.3082A>G (p.Ile1028Val)	rs121434338
NM_017807.4(OSGEP):c.839G>A (p.Arg280His)	rs144732839
NM_017825.3(ADPRS):c.235A>C (p.Thr79Pro)	rs1557733311
NM_017825.3(ADPRS):c.292del (p.Val98fs)	rs1557733367
NM_017825.3(ADPRS):c.316C>T (p.Gln106Ter)	rs368433666
NM_017827.4(SARS2):c.1169A>G (p.Asp390Gly)	rs727502784
NM_017849.4(TMEM127):c.245-1G>T	rs121908821
NM_017849.4(TMEM127):c.410-2A>C	rs121908826
NM_017866.6(TMEM70):c.578_579del (p.Thr193fs)	rs777501387
NM_017875.4(SLC25A38):c.560G>C (p.Arg187Pro)	rs121918331
NM_017882.3(CLN6):c.542+5G>T	rs786205066
NM_017882.3(CLN6):c.723G>T (p.Met241Ile)	rs149262877
NM_017909.4(RMND1):c.1349G>C (p.Ter450Ser)	rs115079861
NM_017909.4(RMND1):c.583G>A (p.Gly195Arg)	rs776083030
NM_017934.7(PHIP):c.3571C>T (p.Gln1191Ter)	rs1554196907
NM_017946.4(FKBP14):c.197+5_197+8del	rs747353360
NM_017946.4(FKBP14):c.362dup (p.Glu122fs)	rs542489955
NM_017950.4(CCDC40):c.1315C>T (p.Gln439Ter)	rs387907091
NM_017951.5(SMPD4):c.82C>T (p.Gln28Ter)	rs1573728266
NM_018006.5(TRMU):c.229T>C (p.Tyr77His)	rs118203990
NM_018055.5(NODAL):c.700_723delinsTTGACTTCC (p.Arg234_Pro241delinsLeuThrSer)	rs2132214841
NM_018060.4(IARS2):c.1821G>A (p.Trp607Ter)	rs373436822
NM_018060.4(IARS2):c.2450G>A (p.Arg817His)	rs146618526
NM_018075.5(ANO10):c.132dup (p.Asp45fs)	rs540331226
NM_018075.5(ANO10):c.1476+1G>T	rs761213683
NM_018076.5(ODAD2):c.2780T>G (p.Leu927Trp)	rs587777047
NM_018105.3(THAP1):c.241T>C (p.Phe81Leu)	rs118204013
NM_018116.4(MSTO1):c.1259del (p.Gly420fs)	rs1248439783
NM_018122.5(DARS2):c.1273G>T (p.Glu425Ter)	rs121918211
NM_018122.5(DARS2):c.1876C>G (p.Leu626Val)	rs121918205
NM_018122.5(DARS2):c.228-22T>A	rs1557853625
NM_018133.4(MSL2):c.796_797del (p.Leu266fs)	rs2529547139
NM_018136.5(ASPM):c.4195dup (p.Thr1399fs)	rs199422163
NM_018191.4(RCBTB1):c.930G>T (p.Trp310Cys)	rs772592456
NM_018196.4(TMLHE):c.961_962del (p.Ile321fs)	rs782624357
NM_018230.3(NUP133):c.2922T>G (p.Ser974Arg)	rs1558091788
NM_018230.3(NUP133):c.691C>G (p.Arg231Gly)	rs1558108130
NM_018238.4(AGK):c.424-3C>G	rs766413410
NM_018283.4(NUDT15):c.38GAGTCG[4] (p.13GV[4])	rs746071566
NM_018292.5(QRSL1):c.398G>T (p.Gly133Val)	rs1562168768
NM_018344.6(SLC29A3):c.607T>C (p.Ser203Pro)	rs397514626
NM_018359.5(UFSP2):c.1283A>G (p.His428Arg)	rs2095515802
NM_018389.5(SLC35C1):c.439C>T (p.Arg147Cys)	rs28939087
NM_018389.5(SLC35C1):c.503_505del (p.Phe168del)	rs587777655
NM_018444.4(PDP1):c.500dup (p.Leu167fs)	rs1810312864
NM_018489.3(ASH1L):c.3705del (p.Glu1236fs)	rs1553265189
NM_018668.5(VPS33B):c.390_392delinsAGA (p.Gly131Glu)	rs2151674862
NM_018676.4(THSD1):c.1561C>T (p.Gln521Ter)	rs2547596958
NM_018676.4(THSD1):c.670C>T (p.Arg224Ter)	rs9536062
NM_018684.4(ZC4H2):c.617G>T (p.Cys206Phe)	rs1064795753
NM_018706.7(DHTKD1):c.1455T>G (p.Tyr485Ter)	rs606231237
NM_018834.6(MATR3):c.254C>G (p.Ser85Cys)	rs121434591
NM_018834.6(MATR3):c.460C>T (p.Pro154Ser)	rs587777302
NM_018838.5(NDUFA12):c.4G>T (p.Glu2Ter)	rs1411237396
NM_018941.4(CLN8):c.181_183del (p.Lys61del)	rs386834123
NM_018941.4(CLN8):c.66del (p.Ile23fs)	rs34238807
NM_018941.4(CLN8):c.88del (p.Ala30fs)	rs386834139
NM_018947.6(CYCS):c.124G>A (p.Gly42Ser)	rs121918552
NM_018965.4(TREM2):c.377T>G (p.Val126Gly)	rs121908402
NM_018965.4(TREM2):c.401A>G (p.Asp134Gly)	rs28939079
NM_018965.4(TREM2):c.558G>T (p.Lys186Asn)	rs28937876
NM_018972.4(GDAP1):c.368A>G (p.His123Arg)	rs397515442
NM_018972.4(GDAP1):c.467C>G (p.Ala156Gly)	rs397515441
NM_018972.4(GDAP1):c.482G>A (p.Arg161His)	rs104894076
NM_018972.4(GDAP1):c.821C>T (p.Pro274Leu)	rs397515443
NM_018972.4(GDAP1):c.92G>A (p.Trp31Ter)	rs121908112
NM_018990.4(SASH3):c.505C>T (p.Gln169Ter)	rs2124082775
NM_018993.4(RIN2):c.2104dup (p.Leu702fs)	rs1568718508
NM_019023.5(PRMT7):c.1074_1075del (p.Arg358fs)	rs763953657
NM_019026.6(TMCO1):c.139_140del (p.Gln46_Ser47insTer)	rs752176040
NM_019042.5(PUS7):c.398+1G>T	rs1264890888
NM_019066.5(MAGEL2):c.1621C>T (p.Gln541Ter)	rs1555374290
NM_019074.4(DLL4):c.1169G>A (p.Cys390Tyr)	rs796065346
NM_019096.5(GTPBP2):c.1236+1G>A	rs1252019134
NM_019096.5(GTPBP2):c.1527_1528del (p.Glu509fs)	rs1768790302
NM_019109.5(ALG1):c.434G>A (p.Gly145Asp)	rs387906926
NM_019597.5(HNRNPH2):c.616C>T (p.Arg206Trp)	rs886039763
NM_019597.5(HNRNPH2):c.617G>A (p.Arg206Gln)	rs886039764
NM_019616.4(F7):c.1099T>G (p.Cys367Gly)	rs121964934
NM_019616.4(F7):c.1325del (p.Pro442fs)	rs750457207
NM_020041.3(SLC2A9):c.354dup (p.Ile119fs)	rs772429581
NM_020061.6(OPN1LW):c.538= (p.Ala180=)	rs1557157655
NM_020070.4(IGLL1):c.258del (p.Gln88fs)	rs532338576
NM_020158.4(EXOSC5):c.302C>A (p.Thr101Lys)	rs777418116
NM_020166.5(MCCC1):c.1310T>C (p.Leu437Pro)	rs119103215
NM_020166.5(MCCC1):c.1604C>T (p.Ser535Phe)	rs119103216
NM_020184.4(CNNM4):c.1312dup (p.Leu438fs)	rs746879923
NM_020184.4(CNNM4):c.707G>A (p.Arg236Gln)	rs75267011
NM_020247.5(COQ8A):c.1747ACC[1] (p.Thr584del)	rs387906299
NM_020297.4(ABCC9):c.3460C>T (p.Arg1154Trp)	rs387907208
NM_020297.4(ABCC9):c.4512+744_4512+746delinsAAAT	rs869025349
NM_020320.5(RARS2):c.-2A>G	rs201150141
NM_020320.5(RARS2):c.110+5A>G	rs63749985
NM_020365.5(EIF2B3):c.1037T>C (p.Ile346Thr)	rs119474039
NM_020401.4(NUP107):c.2666A>G (p.Tyr889Cys)	rs1565707103
NM_020401.4(NUP107):c.469G>T (p.Asp157Tyr)	rs864321633
NM_020427.3(SLURP1):c.1A>C (p.Met1Leu)	rs28937889
NM_020435.4(GJC2):c.-167A>G	rs587776888
NM_020458.4(TTC7A):c.295A>G (p.Met99Val)	rs748068913
NM_020469.2(ABO):c.261delG (p.Thr88Profs)	rs1556058284
NM_020529.3(NFKBIA):c.110T>A (p.Met37Lys)	rs1566591073
NM_020529.3(NFKBIA):c.110T>G (p.Met37Arg)	rs1566591073
NM_020529.3(NFKBIA):c.32G>A (p.Trp11Ter)	rs121913664
NM_020533.3(MCOLN1):c.1219TTC[1] (p.Phe408del)	rs797044817
NM_020533.3(MCOLN1):c.1704A>T (p.Gly568=)	rs751298168
NM_020533.3(MCOLN1):c.514C>T (p.Arg172Ter)	rs797044824
NM_020549.5(CHAT):c.1007T>C (p.Ile336Thr)	rs121912823
NM_020549.5(CHAT):c.1444A>G (p.Arg482Gly)	rs121912818
NM_020661.4(AICDA):c.238T>C (p.Trp80Arg)	rs104894320
NM_020699.4(GATAD2B):c.1241G>A (p.Arg414Gln)	rs1057521041
NM_020702.5(MYORG):c.1057GAC[1] (p.Asp354del)	rs1180204613
NM_020702.5(MYORG):c.1321C>G (p.Arg441Gly)	rs749427106
NM_020702.5(MYORG):c.1333C>T (p.Gln445Ter)	rs1563981743
NM_020702.5(MYORG):c.607C>T (p.Gln203Ter)	rs1563982489
NM_020702.5(MYORG):c.695C>T (p.Ser232Leu)	rs757434146
NM_020702.5(MYORG):c.782_783delinsTT	rs1563982307
NM_020708.5(SLC12A5):c.1208T>C (p.Leu403Pro)	rs863225304
NM_020708.5(SLC12A5):c.1583G>A (p.Gly528Asp)	rs863225305
NM_020719.3(PRR12):c.5909T>C (p.Leu1970Pro)	rs2122390232
NM_020751.3(COG6):c.1746+2T>G	rs1555280464
NM_020779.4(WDR35):c.3058C>T (p.His1020Tyr)	rs1553316264
NM_020791.4(TAOK1):c.2203del (p.Arg735fs)	rs2150772064
NM_020810.3(TRMT5):c.312_315del (p.Ile105fs)	rs755184077
NM_020810.3(TRMT5):c.665T>C (p.Ile222Thr)	rs766935145
NM_020812.4(DOCK6):c.1362_1365del (p.Thr455fs)	rs730882238
NM_020822.3(KCNT1):c.1193G>A (p.Arg398Gln)	rs397515407
NM_020822.3(KCNT1):c.1421G>A (p.Arg474His)	rs397515404
NM_020822.3(KCNT1):c.2386T>C (p.Tyr796His)	rs397515406
NM_020829.4(RIC1):c.3794G>C (p.Arg1265Pro)	rs763515150
NM_020832.3(ZNF687):c.2810C>G (p.Pro937Arg)	rs148402804
NM_020919.4(ALS2):c.470G>A (p.Cys157Tyr)	rs121908138
NM_020928.2(ZSWIM6):c.2737C>T (p.Arg913Ter)	rs1554041295
NM_020928.2(ZSWIM6):c.3487C>T (p.Arg1163Trp)	rs587777695
NM_020944.3(GBA2):c.1780G>C (p.Asp594His)	rs398123064
NM_020944.3(GBA2):c.2618G>A (p.Arg873His)	rs398123015
NM_020964.3(EPG5):c.4007G>A (p.Gly1336Glu)	rs1085308061
NM_020975.6(RET):c.2370G>C (p.Leu790Phe)	rs75030001
NM_020975.6(RET):c.2753T>C (p.Met918Thr)	rs74799832
NM_020975.6(RET):c.2914A>G (p.Arg972Gly)	rs76534745
NM_020975.6(RET):c.538C>T (p.Arg180Ter)	rs76449634
NM_020975.6(RET):c.95C>T (p.Ser32Leu)	rs76764689
NM_020975.6(RET):c.989G>A (p.Arg330Gln)	rs80236571
NM_021005.4(NR2F2):c.210GCA[6] (p.Gln75dup)	rs780808943
NM_021008.4(DEAF1):c.634G>A (p.Gly212Ser)	rs1057519565
NM_021008.4(DEAF1):c.670C>T (p.Arg224Trp)	rs587777408
NM_021008.4(DEAF1):c.676C>T (p.Arg226Trp)	rs587777623
NM_021008.4(DEAF1):c.700T>A (p.Trp234Arg)	rs1057524157
NM_021008.4(DEAF1):c.791A>C (p.Gln264Pro)	rs587777407
NM_021008.4(DEAF1):c.910AAG[1] (p.Lys305del)	rs1554943158
NM_021008.4(DEAF1):c.997+4A>C	rs886040972
NM_021072.4(HCN1):c.1172G>A (p.Gly391Asp)	rs1057519547
NM_021072.4(HCN1):c.835C>T (p.His279Tyr)	rs587777495
NM_021076.4(NEFH):c.3010_3011del (p.Asp1004fs)	rs876657411
NM_021095.4(SLC5A6):c.1285A>G (p.Ser429Gly)	rs2147992303
NM_021095.4(SLC5A6):c.422_423del (p.Val141fs)	rs749980819
NM_021190.4(PTBP2):c.2T>C (p.Met1Thr)
NM_021222.3(PRUNE1):c.88G>A (p.Asp30Asn)	rs1057521927
NM_021614.4(KCNN2):c.1116C>A (p.Tyr372Ter)	rs774833524
NM_021615.5(CHST6):c.277C>A (p.Arg93Ser)	rs121917826
NM_021625.5(TRPV4):c.1853T>C (p.Leu618Pro)	rs515726163
NM_021625.5(TRPV4):c.806G>A (p.Arg269His)	rs267607144
NM_021629.4(GNB4):c.158G>A (p.Gly53Asp)	rs387907340
NM_021800.3(DNAJC12):c.214C>T (p.Arg72Ter)	rs569240271
NM_021815.5(SLC5A7):c.123_126del (p.Ala41_Ile42insTer)	rs886039767
NM_021830.5(TWNK):c.1075G>A (p.Ala359Thr)	rs111033573
NM_021870.2(FGG):c.1007T>C (p.Met336Thr)	rs121913091
NM_021870.2(FGG):c.901C>T (p.Arg301Cys)	rs121913087
NM_021870.2(FGG):c.953G>T (p.Gly318Val)	rs121913089
NM_021937.5(EEFSEC):c.580C>A (p.Pro194Thr)
NM_021954.4(GJA3):c.188A>G (p.Asn63Ser)	rs121917823
NM_021954.4(GJA3):c.227G>A (p.Arg76His)	rs121917827
NM_021954.4(GJA3):c.427G>A (p.Gly143Arg)	rs398122937
NM_021954.4(GJA3):c.560C>T (p.Pro187Leu)	rs121917825
NM_021954.4(GJA3):c.563A>C (p.Asn188Thr)	rs140332366
NM_021954.4(GJA3):c.563A>T (p.Asn188Ile)	rs140332366
NM_021954.4(GJA3):c.5G>A (p.Gly2Asp)	rs397514703
NM_021954.4(GJA3):c.616T>A (p.Phe206Ile)	rs397514704
NM_021957.4(GYS2):c.1336C>G (p.His446Asp)	rs121918425
NM_021957.4(GYS2):c.1472T>G (p.Met491Arg)	rs121918422
NM_021961.6(TEAD1):c.1261T>A (p.Tyr421Asn)	rs11567847
NM_021971.4(GMPPB):c.1000G>A (p.Asp334Asn)	rs397509422
NM_021975.4(RELA):c.736C>T (p.Arg246Ter)	rs1565190345
NM_022041.4(GAN):c.1268T>C (p.Ile423Thr)	rs119485091
NM_022041.4(GAN):c.1429C>T (p.Arg477Ter)	rs119485094
NM_022041.4(GAN):c.18_19insA (p.Val7fs)	rs1597385624
NM_022041.4(GAN):c.413G>A (p.Arg138His)	rs119485092
NM_022041.4(GAN):c.43C>A (p.Arg15Ser)	rs119485093
NM_022041.4(GAN):c.505G>A (p.Glu169Lys)	rs119485095
NM_022081.6(HPS4):c.2054del (p.Pro685fs)	rs2146241760
NM_022081.6(HPS4):c.461A>G (p.His154Arg)	rs281865098
NM_022124.6(CDH23):c.3839TGA[1] (p.Met1281del)	rs796051860
NM_022124.6(CDH23):c.6604G>A (p.Asp2202Asn)	rs121908349
NM_022132.5(MCCC2):c.929C>G (p.Pro310Arg)	rs119103221
NM_022162.3(NOD2):c.3019dup (p.Leu1007fs)	rs2066847
NM_022168.4(IFIH1):c.1178A>T (p.Asp393Val)	rs587777449
NM_022336.4(EDAR):c.1259G>A (p.Arg420Gln)	rs121908453
NM_022336.4(EDAR):c.719_722del (p.Lys240fs)	rs797044436
NM_022369.4(STRA6):c.527dup (p.Ser177fs)	rs606231127
NM_022370.4(ROBO3):c.1082G>A (p.Gly361Glu)	rs121918270
NM_022370.4(ROBO3):c.14T>C (p.Leu5Pro)	rs121918275
NM_022370.4(ROBO3):c.196A>C (p.Ile66Leu)	rs121918276
NM_022370.4(ROBO3):c.2108G>C (p.Arg703Pro)	rs121918271
NM_022370.4(ROBO3):c.2113T>C (p.Ser705Pro)	rs121918272
NM_022445.4(TPK1):c.119T>C (p.Leu40Pro)	rs387906936
NM_022445.4(TPK1):c.179_182del (p.Arg60fs)	rs1563989427
NM_022454.4(SOX17):c.532G>T (p.Gly178Cys)	rs267607082
NM_022552.5(DNMT3A):c.2645G>A (p.Arg882His)	rs147001633
NM_022726.4(ELOVL4):c.810C>G (p.Tyr270Ter)	rs104893946
NM_022772.4(EPS8L2):c.1878C>A (p.Tyr626Ter)
NM_022772.4(EPS8L2):c.767C>G (p.Thr256Arg)
NM_022786.3(ARV1):c.674-2A>T	rs1192627743
NM_022787.4(NMNAT1):c.245T>C (p.Val82Ala)	rs986437232
NM_022787.4(NMNAT1):c.451G>T (p.Val151Phe)	rs387907292
NM_022834.5(VWA1):c.879del (p.Arg293fs)	rs746212067
NM_022893.4(BCL11A):c.154C>T (p.Gln52Ter)	rs886037868
NM_022915.5(MRPL44):c.233G>A (p.Arg78Gln)	rs761343107
NM_022915.5(MRPL44):c.467T>G (p.Leu156Arg)	rs143697995
NM_023110.3(FGFR1):c.1042G>A (p.Gly348Arg)	rs886037634
NM_023110.3(FGFR1):c.1097C>T (p.Pro366Leu)	rs121909641
NM_023110.3(FGFR1):c.1638C>A (p.Asn546Lys)	rs779707422
NM_023110.3(FGFR1):c.1825C>T (p.Arg609Ter)	rs121909639
NM_023110.3(FGFR1):c.1864C>T (p.Arg622Ter)	rs121909628
NM_023110.3(FGFR1):c.1966A>G (p.Lys656Glu)	rs869320694
NM_023110.3(FGFR1):c.2008G>A (p.Glu670Lys)	rs397515446
NM_023110.3(FGFR1):c.2302G>T (p.Asp768Tyr)	rs121909644
NM_023110.3(FGFR1):c.709G>A (p.Gly237Ser)	rs121909635
NM_023110.3(FGFR1):c.749G>A (p.Arg250Gln)	rs121909645
NM_023936.2(MRPS34):c.37G>A (p.Glu13Lys)	rs1131692037
NM_024009.3(GJB3):c.196_198del (p.Asp66del)	rs786200895
NM_024079.5(ALG8):c.396dup (p.Val133fs)	rs753631154
NM_024105.4(ALG12):c.1001del (p.Asn334fs)	rs759244819
NM_024105.4(ALG12):c.200C>T (p.Thr67Met)	rs121907931
NM_024105.4(ALG12):c.424T>G (p.Phe142Val)	rs28942090
NM_024298.5(MBOAT7):c.126_145del (p.Leu43fs)	rs886041058
NM_024301.5(FKRP):c.160C>T (p.Arg54Trp)	rs28937905
NM_024301.5(FKRP):c.400C>T (p.Arg134Trp)	rs104894690
NM_024301.5(FKRP):c.764G>A (p.Trp255Ter)	rs104894689
NM_024301.5(FKRP):c.953G>A (p.Cys318Tyr)	rs104894684
NM_024306.5(FA2H):c.103G>T (p.Asp35Tyr)	rs121918217
NM_024306.5(FA2H):c.786+1G>A	rs1567633766
NM_024339.5(THOC6):c.135C>A (p.Tyr45Ter)	rs772533643
NM_024417.5(FDXR):c.463C>T (p.Arg155Trp)	rs752675360
NM_024422.6(DSC2):c.2686_2687dup (p.Ala897fs)	rs200056085
NM_024426.6(WT1):c.1348C>T (p.His450Tyr)	rs28942089
NM_024426.6(WT1):c.1399C>T (p.Arg467Trp)	rs121907900
NM_024426.6(WT1):c.1447+4C>T	rs587776577
NM_024496.4(IRF2BPL):c.379C>T (p.Gln127Ter)	rs1292724234
NM_024514.5(CYP2R1):c.768dup (p.Leu257fs)	rs1422405747
NM_024528.4(NKAP):c.989G>A (p.Arg330His)	rs1603379780
NM_024528.4(NKAP):c.998G>A (p.Arg333Gln)	rs1603379779
NM_024570.4(RNASEH2B):c.554T>G (p.Val185Gly)	rs74555752
NM_024587.4(TMEM53):c.62-5_62-3del	rs1644889088
NM_024589.3(ROGDI):c.45+37_46-30del	rs786205125
NM_024589.3(ROGDI):c.45+9_45+20del	rs772340154
NM_024593.4(CLXN):c.367G>T (p.Glu123Ter)	rs1803178017
NM_024664.4(PPCS):c.698A>T (p.Glu233Val)	rs1557778277
NM_024675.4(PALB2):c.172_175del (p.Gln60fs)	rs180177143
NM_024678.6(NARS2):c.637G>T (p.Val213Phe)	rs756725793
NM_024678.6(NARS2):c.969T>A (p.Tyr323Ter)	rs565224393
NM_024685.4(BBS10):c.101G>C (p.Arg34Pro)	rs137852836
NM_024685.4(BBS10):c.32T>G (p.Val11Gly)	rs137852838
NM_024711.6(GIMAP6):c.257G>A (p.Trp86Ter)	rs767832540
NM_024725.4(CCDC82):c.183del (p.Phe61fs)	rs1866078752
NM_024740.2(ALG9):c.1588G>A (p.Glu530Lys)	rs121908022
NM_024747.6(HPS6):c.238dup (p.Asp80fs)	rs281865108
NM_024757.5(EHMT1):c.3502C>T (p.Arg1168Ter)	rs121918301
NM_024769.5(CLMP):c.508C>T (p.Arg170Ter)	rs765907815
NM_024818.6(UBA5):c.503G>A (p.Gly168Glu)	rs886039761
NM_024824.5(ZC3H14):c.2204+17_2204+41del	rs571303442
NM_024844.5(NUP85):c.1430C>T (p.Ala477Val)	rs1568094661
NM_024844.5(NUP85):c.1741G>C (p.Ala581Pro)	rs1321552081
NM_024876.4(COQ8B):c.1356_1362del (p.Gln452fs)	rs398122983
NM_024876.4(COQ8B):c.1447G>T (p.Glu483Ter)	rs398122980
NM_024911.7(WLS):c.1606C>T (p.Arg536Cys)	rs773311381
NM_024926.4(IFT56):c.788A>G (p.Asn263Ser)	rs1794039778
NM_024989.4(PGAP1):c.586CTT[1] (p.Leu197del)	rs587777378
NM_024996.7(GFM1):c.1487T>G (p.Met496Arg)	rs119470020
NM_025074.7(FRAS1):c.6963_6964dup (p.Val2322fs)	rs730882179
NM_025077.4(TOE1):c.658G>A (p.Glu220Lys)	rs1570621473
NM_025103.4(IFT74):c.853G>T (p.Glu285Ter)	rs1056125920
NM_025114.4(CEP290):c.180+2T>A	rs386834150
NM_025114.4(CEP290):c.384_387del (p.Asp128fs)	rs386834157
NM_025114.4(CEP290):c.5493del (p.Ala1832fs)	rs386834158
NM_025130.4(HKDC1):c.173C>T (p.Thr58Met)	rs142379141
NM_025136.4(OPA3):c.415C>T (p.Gln139Ter)	rs28937899
NM_025144.4(ALPK1):c.710C>T (p.Thr237Met)	rs1052954321
NM_025150.5(TARS2):c.1274A>G (p.Glu425Gly)	rs2102494691
NM_025150.5(TARS2):c.2051G>A (p.Arg684Gln)	rs1322913410
NM_025150.5(TARS2):c.2140G>A (p.Ala714Thr)	rs1064797120
NM_025152.2(NUBPL):c.[166G>A;815-27T>C]
NM_025193.4(HSD3B7):c.322+1G>T	rs387906288
NM_025216.3(WNT10A):c.949del (p.Ala317fs)	rs775990266
NM_025237.3(SOST):c.61G>A (p.Val21Met)	rs387907169
NM_025265.4(TSEN2):c.960+1_960+5del	rs886037738
NM_030578.4(B9D2):c.15C>A (p.His5Gln)	rs1388769907
NM_030632.3(ASXL3):c.4330C>T (p.Arg1444Ter)	rs1555744282
NM_030653.4(DDX11):c.2576T>G (p.Val859Gly)	rs1565941025
NM_030653.4(DDX11):c.788G>A (p.Arg263Gln)	rs201968272
NM_030662.4(MAP2K2):c.395G>A (p.Gly132Asp)	rs387906800
NM_030773.4(TUBB1):c.779T>C (p.Phe260Ser)	rs1057517996
NM_030787.4(CFHR5):c.486dup (p.Glu163fs)	rs565457964
NM_030923.5(TMEM163):c.227T>C (p.Leu76Pro)	rs2467325671
NM_030930.4(UNC93B1):c.1038_1041del (p.Phe346fs)	rs759883057
NM_030954.4(RNF170):c.304T>C (p.Cys102Arg)	rs1183403793
NM_031206.7(LAS1L):c.1243C>T (p.Arg415Trp)	rs1057518699
NM_031263.4(HNRNPK):c.253G>A (p.Glu85Lys)	rs1554700678
NM_031263.4(HNRNPK):c.257G>A (p.Arg86His)	rs863223403
NM_031296.3(RAB33B):c.136A>C (p.Lys46Gln)	rs587776958
NM_031296.3(RAB33B):c.365T>C (p.Phe122Ser)	rs1085307129
NM_031307.4(PUS3):c.1181_1182del (p.Ser394fs)	rs753229591
NM_031372.4(HNRNPDL):c.1132G>A (p.Asp378Asn)	rs587777669
NM_031372.4(HNRNPDL):c.1132G>C (p.Asp378His)	rs587777669
NM_031407.7(HUWE1):c.12067C>T (p.Arg4023Cys)	rs1556914274
NM_031407.7(HUWE1):c.12317A>G (p.Tyr4106Cys)	rs1556913180
NM_031407.7(HUWE1):c.1978G>A (p.Gly660Arg)	rs1557006903
NM_031407.7(HUWE1):c.8942G>A (p.Arg2981His)	rs121918526
NM_031443.4(CCM2):c.1250_1251del (p.Glu417fs)	rs1562921605
NM_031443.4(CCM2):c.346T>C (p.Ser116Pro)	rs1562907616
NM_031448.6(C19orf12):c.205C>T (p.Gln69Ter)	rs1064797235
NM_031448.6(C19orf12):c.303G>A (p.Trp101Ter)	rs1555714808
NM_031889.3(ENAM):c.92T>G (p.Leu31Arg)	rs1060499539
NM_032040.5(CCDC8):c.803_807delinsT (p.Lys268fs)	rs1973237748
NM_032043.3(BRIP1):c.897G>A (p.Met299Ile)	rs137852985
NM_032108.4(SEMA6B):c.1991del (p.Gly664fs)	rs1443687532
NM_032188.3(KAT8):c.269A>G (p.Tyr90Cys)	rs2057483219
NM_032193.4(RNASEH2C):c.205C>T (p.Arg69Trp)	rs78635798
NM_032208.3(ANTXR1):c.1150G>A (p.Gly384Ser)	rs869312897
NM_032208.3(ANTXR1):c.1221dup (p.Ala408fs)	rs869312895
NM_032208.3(ANTXR1):c.411A>G (p.Gln137=)	rs869312896
NM_032208.3(ANTXR1):c.505C>T (p.Arg169Ter)	rs397514700
NM_032217.5(ANKRD17):c.4091G>C (p.Gly1364Ala)	rs2148684587
NM_032228.6(FAR1):c.1438C>T (p.Arg480Cys)	rs12799308
NM_032228.6(FAR1):c.1439G>A (p.Arg480His)	rs1057517926
NM_032228.6(FAR1):c.495_507delinsT (p.Glu165_Pro169delinsAsp)	rs727502796
NM_032229.3(SLITRK6):c.890C>A (p.Ser297Ter)	rs587777070
NM_032271.3(TRAF7):c.1964G>A (p.Arg655Gln)	rs1331463984
NM_032382.5(COG8):c.1583-1G>A	rs1287837570
NM_032382.5(COG8):c.1687_1688del (p.Phe563fs)	rs766244312
NM_032383.5(HPS3):c.2589+1G>C	rs281865095
NM_032492.4(JAGN1):c.130C>T (p.His44Tyr)	rs587777728
NM_032492.4(JAGN1):c.35_43del (p.Thr12_Gly14del)	rs587777731
NM_032492.4(JAGN1):c.63G>T (p.Glu21Asp)	rs587777729
NM_032578.4(MYPN):c.2882C>T (p.Pro961Leu)	rs864621995
NM_032581.4(HYCC1):c.414+1G>T	rs72549406
NM_032601.4(MCEE):c.379-644A>G	rs1321542648
NM_032608.7(MYO18B):c.6660_6670del (p.Arg2220fs)	rs756408696
NM_032608.7(MYO18B):c.6768del (p.Leu2257fs)	rs1569308524
NM_032608.7(MYO18B):c.6905C>A (p.Ser2302Ter)	rs556752387
NM_032620.4(GTPBP3):c.1291dup (p.Arg431fs)	rs869320746
NM_032635.4(TMEM147):c.398T>A (p.Ile133Asn)	rs371795896
NM_032638.5(GATA2):c.1021_1024dup (p.Ala342fs)	rs869320770
NM_032638.5(GATA2):c.1117T>C (p.Cys373Arg)	rs387906633
NM_032656.4(DHX37):c.2020C>T (p.Arg674Trp)	rs1954336272
NM_032756.4(HPDL):c.1024C>T (p.Gln342Ter)	rs1644265859
NM_032793.5(MFSD2A):c.1205C>A (p.Pro402His)	rs571640983
NM_032856.5(WDR73):c.287G>A (p.Arg96Lys)	rs797044995
NM_032856.5(WDR73):c.766dup (p.Arg256fs)	rs727502864
NM_032856.5(WDR73):c.888del (p.Phe296fs)	rs869320712
NM_032861.4(SERAC1):c.1167_1170del	rs772296795
NM_032861.4(SERAC1):c.1643_1646dup (p.Leu550fs)	rs761964407
NM_032861.4(SERAC1):c.91+6T>C	rs1554265452
NM_033056.4(PCDH15):c.5598AAC[1] (p.Thr1869del)	rs113363047
NM_033100.4(CDHR1):c.2522_2528del (p.Ile841fs)	rs794727197
NM_033109.5(PNPT1):c.2014-3C>G	rs748445058
NM_033109.5(PNPT1):c.407G>A (p.Arg136His)	rs746356243
NM_033124.5(DRC2):c.877_878del (p.Ile293fs)	rs863223325
NM_033198.4(PIGS):c.101T>C (p.Leu34Pro)	rs1567618413
NM_033198.4(PIGS):c.923A>G (p.Glu308Gly)	rs1426262136
NM_033310.3(KCNK4):c.515C>A (p.Ala172Glu)	rs1565369746
NM_033337.3(CAV3):c.277G>A (p.Ala93Thr)	rs28936686
NM_033337.3(CAV3):c.290_292del (p.Phe97del)	rs199476335
NM_033380.3(COL4A5):c.4964T>G (p.Leu1655Arg)	rs104886303
NM_033419.5(PGAP3):c.507C>A (p.Tyr169Ter)	rs1567871748
NM_033419.5(PGAP3):c.850C>T (p.His284Tyr)	rs759541820
NM_033419.5(PGAP3):c.851A>G (p.His284Arg)	rs776720232
NM_033550.4(TP53RK):c.728G>T (p.Arg243Leu)	rs776588426
NM_052813.5(CARD9):c.1118G>C (p.Arg373Pro)	rs149712114
NM_052813.5(CARD9):c.820dup (p.Asp274fs)	rs753050033
NM_052813.5(CARD9):c.883C>T (p.Gln295Ter)	rs121918338
NM_052845.4(MMAB):c.287T>C (p.Ile96Thr)	rs864309509
NM_052845.4(MMAB):c.290G>A (p.Gly97Glu)	rs864309511
NM_052845.4(MMAB):c.349-1G>C	rs864309510
NM_052845.4(MMAB):c.567CCG[3] (p.Arg191dup)	rs864309512
NM_052876.4(NACC1):c.892C>T (p.Arg298Trp)	rs1060505041
NM_052961.4(SLC26A8):c.212G>T (p.Arg71Leu)	rs116146081
NM_052965.4(TSEN15):c.226T>G (p.Trp76Gly)	rs730882223
NM_052988.5(CDK10):c.139del (p.Glu47fs)	rs1555516716
NM_053274.3(GLMN):c.1179_1181del (p.Asn393del)	rs773442562
NM_053274.3(GLMN):c.157_161del (p.Glu52_Lys53insTer)	rs762515373
NM_054012.4(ASS1):c.323G>T (p.Arg108Leu)	rs35269064
NM_054012.4(ASS1):c.539G>A (p.Ser180Asn)	rs121908638
NM_054021.2(GPR101):c.924G>C (p.Glu308Asp)	rs73637412
NM_054027.6(ANKH):c.1124_1126del (p.Ser375del)	rs121908406
NM_057175.4(NAA15):c.228_232del (p.Asp76Glufs)	rs1380822792
NM_058195.4(CDKN2A):c.194-3653G>T	rs1800586
NM_058216.3(RAD51C):c.230del (p.Gly77fs)	rs1057519355
NM_058216.3(RAD51C):c.397C>T (p.Gln133Ter)	rs387907159
NM_058216.3(RAD51C):c.93del (p.Phe32fs)	rs730881942
NM_058246.4(DNAJB6):c.271T>G (p.Phe91Val)	rs869320701
NM_078470.6(COX15):c.1030T>C (p.Ser344Pro)	rs397514662
NM_078480.3(PUF60):c.24+1G>C	rs1064795388
NM_078480.3(PUF60):c.505C>T (p.His169Tyr)	rs398123001
NM_078480.3(PUF60):c.541G>A (p.Glu181Lys)	rs1085307135
NM_079420.3(MYL1):c.488T>G (p.Met163Arg)	rs1259220084
NM_080675.4(SUN5):c.381del (p.Val128fs)	rs781693813
NM_080860.4(RSPH1):c.281G>A (p.Trp94Ter)	rs587777635
NM_080860.4(RSPH1):c.407_410del (p.Lys136fs)	rs587777059
NM_080916.3(DGUOK):c.763_766dup (p.Phe256Ter)	rs763706988
NM_080916.3(DGUOK):c.797T>G (p.Leu266Arg)	rs886037846
NM_130468.4(CHST14):c.145del (p.Ala48_Val49insTer)	rs397518432
NM_130837.3(OPA1):c.2873_2876del	rs80356530
NM_130839.5(UBE3A):c.1609-8A>G	rs2077891986
NM_130839.5(UBE3A):c.2567_2570del (p.Lys856fs)	rs587784527
NM_130839.5(UBE3A):c.449T>C (p.Ile150Thr)	rs111033597
NM_133171.5(ELMO2):c.1802-1G>C	rs886037918
NM_133181.4(EPS8L3):c.22G>A (p.Ala8Thr)	rs1650987435
NM_133433.4(NIPBL):c.2T>A (p.Met1Lys)	rs121918264
NM_133443.4(GPT2):c.815C>T (p.Pro272Leu)	rs886038199
NM_133497.4(KCNV2):c.1381G>A (p.Gly461Arg)	rs149648640
NM_133497.4(KCNV2):c.427G>T (p.Glu143Ter)	rs104894113
NM_133497.4(KCNV2):c.8_11del (p.Lys3fs)	rs786205121
NM_134261.3(RORA):c.1385G>A (p.Arg462Gln)	rs1433850094
NM_138281.3(DLX4):c.546del (p.Gln183fs)	rs869025279
NM_138295.5(PKD1L1):c.6473+2_6473+3del	rs528302390
NM_138383.3(MTSS2):c.2011C>T (p.Arg671Trp)	rs753688777
NM_138425.4(C12orf57):c.184C>T (p.Gln62Ter)	rs587777698
NM_138459.5(NUS1):c.869G>A (p.Arg290His)	rs886037858
NM_138615.3(DHX30):c.2353C>T (p.Arg785Cys)	rs1085307451
NM_138638.5(CFL2):c.19G>A (p.Val7Met)	rs397515451
NM_138691.3(TMC1):c.1714G>A (p.Asp572Asn)	rs121908072
NM_138711.6(PPARG):c.1394C>T (p.Pro465Leu)	rs121909244
NM_138775.3(ALKBH8):c.1651C>T (p.Arg551Ter)	rs375189195
NM_138927.4(SON):c.3073dup (p.Met1025fs)	rs886039778
NM_138927.4(SON):c.4640del (p.His1547fs)	rs886039776
NM_138927.4(SON):c.5549_5550del (p.Arg1850fs)	rs886039774
NM_138927.4(SON):c.5753_5756del (p.Val1918fs)	rs886039773
NM_138927.4(SON):c.6002_6003insCC (p.Arg2002fs)	rs886039775
NM_138967.4(SCAMP5):c.538G>T (p.Gly180Trp)	rs1184981709
NM_139058.3(ARX):c.306GGC[17] (p.Ala109_Ala115dup)	rs387906492
NM_139159.5(DPP9):c.499G>A (p.Gly167Ser)	rs1193951296
NM_139159.5(DPP9):c.641C>G (p.Ser214Ter)	rs2092446218
NM_139242.4(MTFMT):c.374C>T (p.Ser125Leu)	rs397514614
NM_139285.4(GAS2L2):c.887_890del (p.Val296fs)	rs587633197
NM_139343.3(BIN1):c.1723A>T (p.Lys575Ter)	rs121909275
NM_139343.3(BIN1):c.433C>T (p.Arg145Cys)	rs1249621033
NM_139343.3(BIN1):c.461G>A (p.Arg154Gln)	rs267606681
NM_144573.4(NEXN):c.1946GAG[1] (p.Gly650del)	rs397517853
NM_144599.5(NIPA1):c.316G>A (p.Gly106Arg)	rs104894490
NM_144643.4(SCLT1):c.290+2T>C	rs587777504
NM_144666.3(DNHD1):c.6498T>G (p.Tyr2166Ter)	rs61729699
NM_144670.6(A2ML1):c.1775G>T (p.Arg592Leu)	rs200673370
NM_144687.4(NLRP12):c.1223G>A (p.Trp408Ter)	rs774895361
NM_144687.4(NLRP12):c.2072+2dup	rs104895565
NM_144773.4(PROKR2):c.253C>T (p.Arg85Cys)	rs141090506
NM_144773.4(PROKR2):c.254G>A (p.Arg85His)	rs74315418
NM_144773.4(PROKR2):c.58del (p.His20fs)	rs587777834
NM_144997.7(FLCN):c.250-2A>G	rs398124533
NM_145020.5(CFAP53):c.1213+1G>A	rs2144412496
NM_145045.5(ODAD3):c.925G>T (p.Glu309Ter)	rs587777779
NM_145054.5(CFAP52):c.1304del (p.Gly435fs)	rs1360832162
NM_145064.3(STAC3):c.432+4A>T	rs751033943
NM_145207.3(AFG2A):c.983CAA[2] (p.Thr330del)	rs796052243
NM_145239.3(PRRT2):c.649del (p.Arg217fs)	rs587778771
NM_145239.3(PRRT2):c.649dup (p.Arg217fs)	rs587778771
NM_145899.3(HMGA1):c.136-14dup	rs139876191
NM_147127.5(EVC2):c.194_198dup (p.Ser67fs)	rs992326794
NM_148919.4(PSMB8):c.405C>A (p.Cys135Ter)	rs146254972
NM_148923.4(CYB5A):c.131A>T (p.His44Leu)	rs1555688659
NM_148923.4(CYB5A):c.81G>A (p.Trp27Ter)	rs1555691399
NM_148960.3(CLDN19):c.269T>G (p.Leu90Arg)	rs118203981
NM_152263.4(TPM3):c.654AGA[1] (p.Glu219del)	rs876661407
NM_152268.4(PARS2):c.604C>G (p.Arg202Gly)	rs141760650
NM_152268.4(PARS2):c.607G>A (p.Glu203Lys)	rs1557762729
NM_152269.5(MTRFR):c.248del (p.Val83fs)	rs587776508
NM_152269.5(MTRFR):c.415C>T (p.Gln139Ter)	rs398122365
NM_152281.2(GORAB):c.-1_1delGAinsCT (p.Met(?_1)_Met1(?))	rs1557999318
NM_152291.3(MUC7):c.710_778del (p.Ala237_Ala259del)	rs1560560839
NM_152296.5(ATP1A3):c.829G>A (p.Glu277Lys)	rs80356533
NM_152305.3(POGLUT1):c.292C>T (p.Arg98Trp)	rs762277732
NM_152383.5(DIS3L2):c.1466G>A (p.Cys489Tyr)	rs387907116
NM_152443.3(RDH12):c.152T>A (p.Ile51Asn)	rs104894473
NM_152490.5(B3GALNT2):c.1423C>T (p.Gln475Ter)	rs367543077
NM_152490.5(B3GALNT2):c.755T>G (p.Val252Gly)	rs367543073
NM_152490.5(B3GALNT2):c.875G>C (p.Arg292Pro)	rs367543076
NM_152542.5(PPM1K):c.417_418del (p.Thr140fs)	rs757046744
NM_152558.5(IQCE):c.895_904del (p.Val301fs)	rs773701437
NM_152564.5(VPS13B):c.10813C>T (p.Gln3605Ter)	rs120074154
NM_152564.5(VPS13B):c.11489del (p.Tyr3830fs)	rs386834064
NM_152564.5(VPS13B):c.5908+2dup	rs587777381
NM_152564.5(VPS13B):c.7859G>A (p.Gly2620Asp)	rs120074153
NM_152564.5(VPS13B):c.8384T>C (p.Ile2795Thr)	rs120074155
NM_152564.5(VPS13B):c.9185dup (p.Leu3062fs)	rs180177329
NM_152618.3(BBS12):c.337_339del (p.Val113del)	rs587777801
NM_152641.4(ARID2):c.1028T>A (p.Leu343Ter)	rs796052242
NM_152641.4(ARID2):c.4318C>T (p.Gln1440Ter)	rs772995852
NM_152654.3(DAND5):c.396_397dup (p.Tyr133fs)	rs768842269
NM_152703.5(SAMD9L):c.2640C>A (p.His880Gln)	rs878855336
NM_152703.5(SAMD9L):c.2956C>T (p.Arg986Cys)	rs1554341158
NM_152703.5(SAMD9L):c.3587G>C (p.Cys1196Ser)	rs878855337
NM_152707.4(SLC25A16):c.92G>T (p.Arg31Leu)	rs771745123
NM_152713.5(STT3A):c.1214G>A (p.Arg405His)	rs780062429
NM_152713.5(STT3A):c.137A>G (p.His46Arg)	rs2135904246
NM_152713.5(STT3A):c.1589A>C (p.Tyr530Ser)	rs2135940602
NM_152713.5(STT3A):c.1637C>T (p.Thr546Ile)	rs2135940683
NM_152713.5(STT3A):c.479G>A (p.Arg160Gln)	rs2135921186
NM_152713.5(STT3A):c.985C>T (p.Arg329Cys)	rs2135932096
NM_152722.5(HEPACAM):c.266G>A (p.Gly89Asp)	rs387907054
NM_152722.5(HEPACAM):c.275G>A (p.Arg92Gln)	rs387907050
NM_152743.4(BRAT1):c.638dup (p.Val214fs)	rs730880324
NM_152783.5(D2HGDH):c.1123G>T (p.Asp375Tyr)	rs267606759
NM_152906.7(TANGO2):c.280del (p.His94fs)	rs2046773175
NM_152906.7(TANGO2):c.59T>G (p.Leu20Arg)	rs1191958022
NM_153006.3(NAGS):c.1289T>C (p.Leu430Pro)	rs104894605
NM_153006.3(NAGS):c.1307dup (p.Thr439fs)	rs730880303
NM_153006.3(NAGS):c.916-2A>T	rs730880267
NM_153212.3(GJB4):c.65G>A (p.Arg22His)	rs80358212
NM_153218.4(LACC1):c.850T>C (p.Cys284Arg)	rs730880295
NM_153332.4(ERI1):c.352A>T (p.Lys118Ter)	rs2486218891
NM_153332.4(ERI1):c.401A>G (p.Asp134Gly)	rs2486219481
NM_153332.4(ERI1):c.450A>T (p.Glu150Asp)	rs2486219940
NM_153332.4(ERI1):c.464C>T (p.Pro155Leu)	rs982911729
NM_153332.4(ERI1):c.62C>A (p.Ser21Ter)	rs2486175152
NM_153332.4(ERI1):c.893A>G (p.Asp298Gly)	rs1433280953
NM_153332.4(ERI1):c.895T>C (p.Ser299Pro)	rs2486309230
NM_153682.3(PIGP):c.384del (p.Glu129fs)	rs778481061
NM_153689.6(C2orf69):c.298del (p.Gln100fs)	rs2077262520
NM_153704.6(TMEM67):c.1575+1G>A	rs386834187
NM_153704.6(TMEM67):c.383_384del (p.His128fs)	rs386834200
NM_153704.6(TMEM67):c.648del (p.Val217fs)	rs386834204
NM_153704.6(TMEM67):c.870-2A>G	rs386834207
NM_153747.2(PIGC):c.12_13insTTGTGACTAACA (p.Pro5delinsLeuTer)	rs2526991185
NM_153747.2(PIGC):c.566T>G (p.Leu189Trp)	rs1553259614
NM_153766.3(KCNJ1):c.535G>A (p.Ala179Thr)	rs104894253
NM_153816.6(SNX14):c.1894+1G>T	rs876657386
NM_170606.3(KMT2C):c.1690A>T (p.Lys564Ter)	rs1554580083
NM_170606.3(KMT2C):c.4441C>T (p.Arg1481Ter)	rs587777073
NM_170606.3(KMT2C):c.7550C>G (p.Ser2517Ter)	rs779659766
NM_170675.5(MEIS2):c.934_937del (p.Leu312fs)	rs1595790647
NM_170675.5(MEIS2):c.992GAA[2] (p.Arg333del)	rs879255264
NM_170707.4(LMNA):c.1357C>T (p.Arg453Trp)	rs58932704
NM_170707.4(LMNA):c.1411C>T (p.Arg471Cys)	rs28928902
NM_170707.4(LMNA):c.745C>T (p.Arg249Trp)	rs121912496
NM_170784.3(MKKS):c.429_434delinsTT (p.Phe144fs)	rs2122235362
NM_172107.4(KCNQ2):c.638G>A (p.Arg213Gln)	rs397514581
NM_172107.4(KCNQ2):c.794C>T (p.Ala265Val)	rs587777219
NM_173086.5(KRT6C):c.1414G>A (p.Glu472Lys)	rs587777292
NM_173348.2(FAM149B1):c.356_357del (p.Lys119fs)	rs1589150410
NM_173560.4(RFX6):c.649T>C (p.Ser217Pro)	rs267607012
NM_173628.4(DNAH17):c.[10496C>T;10784T>C]
NM_173630.4(RTTN):c.2885+8A>G	rs864321620
NM_173660.5(DOK7):c.1263dup (p.Ser422fs)	rs606231129
NM_173660.5(DOK7):c.1378dup (p.Gln460fs)	rs606231133
NM_173689.7(CRB2):c.2400C>G (p.Asn800Lys)	rs765676223
NM_174936.4(PCSK9):c.287GCC[1] (p.Arg97del)	rs587776545
NM_175748.4(UBR7):c.618del (p.Glu207fs)	rs1894637828
NM_176806.4(MOCS2):c.-8_15del (p.Met1fs)	rs397518417
NM_176824.3(BBS7):c.1592_1597del (p.Val531_Pro532del)	rs587777836
NM_176869.3(PPA2):c.182C>T (p.Ser61Phe)	rs772083375
NM_177400.3(NKX6-2):c.121A>T (p.Lys41Ter)	rs1131692047
NM_177400.3(NKX6-2):c.487C>G (p.Leu163Val)	rs1131692048
NM_177400.3(NKX6-2):c.599G>A (p.Arg200Gln)	rs1008088032
NM_177402.5(SYT2):c.923C>T (p.Pro308Leu)	rs587777782
NM_177550.5(SLC13A5):c.1463T>C (p.Leu488Pro)	rs587777578
NM_177559.3(CSNK2A1):c.1A>G (p.Met1Val)	rs1568532361
NM_177559.3(CSNK2A1):c.466G>C (p.Asp156His)	rs1568512728
NM_177559.3(CSNK2A1):c.593A>G (p.Lys198Arg)	rs869312840
NM_177924.5(ASAH1):c.107A>G (p.Tyr36Cys)	rs137853595
NM_177924.5(ASAH1):c.505T>C (p.Trp169Arg)	rs756455049
NM_177939.3(P4HTM):c.949del (p.Val317fs)	rs1576608329
NM_178012.5(TUBB2B):c.767A>G (p.Asn256Ser)	rs397514568
NM_178014.4(TUBB):c.895A>G (p.Met299Val)	rs587777355
NM_178172.6(GPIHBP1):c.523G>C (p.Gly175Arg)	rs145844329
NM_178526.5(SLC25A42):c.871A>G (p.Asn291Asp)	rs864321624
NM_178565.5(RSPO2):c.125del (p.Gly42fs)	rs1554579568
NM_178821.3(DAW1):c.1091G>C (p.Ser364Thr)	rs541693633
NM_181507.2(HPS5):c.1423del (p.Leu475fs)	rs766602179
NM_181552.4(CUX1):c.2365del (p.Gln789fs)	rs1554519798
NM_181552.4(CUX1):c.2584C>T (p.Gln862Ter)	rs1563398977
NM_181552.4(CUX1):c.3164dup (p.Ala1056fs)	rs1563446668
NM_181552.4(CUX1):c.3750_3751dup (p.Leu1251fs)	rs1563470335
NM_181552.4(CUX1):c.762G>C (p.Arg254Ser)	rs2131685158
NM_181697.3(PRDX1):c.515-2A>T	rs1379672870
NM_181783.4(TMTC3):c.199C>G (p.His67Asp)	rs754200057
NM_181789.4(GLDN):c.1423G>C (p.Ala475Pro)	rs764239923
NM_181789.4(GLDN):c.1435C>T (p.Arg479Ter)	rs368085516
NM_181840.1(KCNK18):c.414_415del (p.Phe139fs)	rs869025175
NM_181882.3(PRX):c.2787del (p.Lys930fs)	rs754521978
NM_181882.3(PRX):c.586C>T (p.Arg196Ter)	rs104894706
NM_182760.4(SUMF1):c.1006T>C (p.Cys336Arg)	rs137852848
NM_182760.4(SUMF1):c.1042G>C (p.Ala348Pro)	rs137852853
NM_182760.4(SUMF1):c.1076C>A (p.Ser359Ter)	rs137852844
NM_182760.4(SUMF1):c.1A>G (p.Met1Val)	rs137852855
NM_182760.4(SUMF1):c.279del (p.Ile94fs)	rs2125134167
NM_182760.4(SUMF1):c.2T>G (p.Met1Arg)	rs137852851
NM_182894.3(VSX2):c.599G>C (p.Arg200Pro)	rs121912543
NM_182931.3(KMT2E):c.1776_1780del (p.Lys593fs)	rs1562927768
NM_182931.3(KMT2E):c.264A>G (p.Glu88=)	rs2129567228
NM_182931.3(KMT2E):c.3554C>G (p.Ser1185Ter)	rs186916831
NM_182931.3(KMT2E):c.418G>A (p.Val140Ile)	rs74375534
NM_182931.3(KMT2E):c.4829dup (p.Leu1610fs)	rs1243172283
NM_183050.4(BCKDHB):c.616C>T (p.His206Tyr)	rs121965004
NM_183075.3(CYP2U1):c.784T>C (p.Cys262Arg)	rs397514515
NM_183075.3(CYP2U1):c.947A>T (p.Asp316Val)	rs397514513
NM_183235.3(RAB27A):c.239+3A>G	rs1595695268
NM_183235.3(RAB27A):c.259G>C (p.Ala87Pro)	rs104894497
NM_183357.3(ADCY5):c.1252C>T (p.Arg418Trp)	rs864309483
NM_183357.3(ADCY5):c.3045C>A (p.Asp1015Glu)	rs1007363034
NM_194436.3(LDHD):c.1053G>T (p.Trp351Cys)	rs1567502487
NM_194454.3(KRIT1):c.410A>G (p.Asp137Gly)	rs137853139
NM_198173.3(GRHL3):c.1171C>T (p.Arg391Cys)	rs879255245
NM_198239.2(CCN6):c.246del (p.Glu84fs)	rs797044438
NM_198252.3(GSN):c.1324T>C (p.Trp442Arg)	rs2062427908
NM_198252.3(GSN):c.1585G>A (p.Glu529Lys)	rs2063220897
NM_198252.3(GSN):c.487G>T (p.Asp163Tyr)	rs121909715
NM_198253.3(TERT):c.219+1G>A	rs199422309
NM_198253.3(TERT):c.2315A>G (p.Tyr772Cys)	rs121918663
NM_198253.3(TERT):c.2768C>T (p.Pro923Leu)	rs387907251
NM_198271.5(LMOD3):c.1099_1100del (p.Asn367fs)	rs727502799
NM_198271.5(LMOD3):c.1100ACA[1] (p.Asn368del)	rs727502798
NM_198291.3(SRC):c.1579G>A (p.Glu527Lys)	rs879255268
NM_198334.3(GANAB):c.1199G>T (p.Arg400Leu)	rs770519542
NM_198334.3(GANAB):c.152_153del (p.Arg51fs)	rs752158933
NM_198334.3(GANAB):c.2449C>T (p.Arg817Trp)	rs879255643
NM_198503.5(KCNT2):c.569G>A (p.Arg190His)	rs1572547466
NM_198514.4(NHLRC2):c.1750del (p.Phe583_Leu584insTer)	rs2494421263
NM_198514.4(NHLRC2):c.1A>G (p.Met1Val)	rs2134678958
NM_198535.3(ZNF699):c.1327C>T (p.Arg443Ter)
NM_198535.3(ZNF699):c.1623_1626del (p.Tyr542fs)	rs1238886661
NM_198565.3(NRROS):c.1981del (p.Leu661fs)	rs1737685202
NM_198569.3(ADGRG6):c.19C>T (p.Arg7Ter)	rs749355583
NM_198569.3(ADGRG6):c.2306T>A (p.Val769Glu)	rs793888525
NM_198576.4(AGRN):c.5179G>T (p.Val1727Phe)	rs587777298
NM_198834.3(ACACA):c.6641C>A (p.Pro2214His)	rs2544608353
NM_198880.3(QRICH1):c.2207G>A (p.Ser736Asn)	rs2093229974
NM_198904.4(GABRG2):c.247C>T (p.Pro83Ser)	rs587777365
NM_198904.4(GABRG2):c.316G>A (p.Ala106Thr)	rs796052505
NM_199242.3(UNC13D):c.766C>T (p.Arg256Ter)	rs121434352
NM_199342.4(SVBP):c.82C>T (p.Gln28Ter)	rs1570520175
NM_199355.4(ADAMTS18):c.1731C>G (p.Cys577Trp)	rs148319220
NM_199461.4(NANOS1):c.231CTC[3] (p.Ser83del)	rs587777031
NM_201525.4(ADGRG1):c.1010dup (p.Gln338fs)	rs2545340801
NM_201525.4(ADGRG1):c.112C>T (p.Arg38Trp)	rs121908462
NM_201548.5(CERKL):c.420del (p.Ile141fs)	rs398122962
NM_201589.4(MAFA):c.191C>T (p.Ser64Phe)	rs1554635488
NM_201596.3(CACNB2):c.1604C>T (p.Ser535Leu)	rs121917812
NM_201599.3(ZMYM3):c.3880C>T (p.Arg1294Cys)	rs879255361
NM_203395.3(IYD):c.315_317del (p.Phe105_Ile106delinsLeu)	rs863223276
NM_205861.3(DHDDS):c.110G>A (p.Arg37His)	rs1553121073
NM_206538.4(EMC10):c.287del (p.Gly96fs)	rs770255014
NM_206926.2(SELENON):c.-11_81del (p.Met1fs)	rs1557813850
NM_206926.2(SELENON):c.776A>G (p.His259Arg)	rs776738184
NM_206943.4(LTBP1):c.1342C>T (p.Gln448Ter)	rs1441358067
NM_206965.2(FTCD):c.896G>C (p.Arg299Pro)	rs119469015
NM_206965.2(FTCD):c.990dup (p.Pro331fs)	rs398124234
NM_207034.3(EDN3):c.49G>A (p.Ala17Thr)	rs11570255
NM_207111.4(RNF216):c.1616A>G (p.Tyr539Cys)	rs148642312
NM_207391.3(RGS9BP):c.614dup (p.Cys206fs)	rs757764760
NM_207421.4(PADI6):c.1618G>A (p.Gly540Arg)	rs1057517684
NM_207581.4(DUOXA2):c.738C>G (p.Tyr246Ter)	rs4774518
NM_207585.3(IFNAR2):c.236del (p.Asp78_Leu79insTer)	rs1310889473
NM_212482.4(FN1):c.260G>T (p.Cys87Phe)	rs1553669703
NM_212482.4(FN1):c.367T>C (p.Cys123Arg)	rs1553667072
NM_212482.4(FN1):c.675C>G (p.Cys225Trp)	rs1181638652
NM_212482.4(FN1):c.718T>G (p.Tyr240Asp)	rs1553659131
NM_212552.3(BOLA3):c.220_222del (p.Glu74del)	rs1209052568
NM_213599.3(ANO5):c.191dup (p.Asn64fs)	rs137854521
NM_213653.4(HJV):c.302T>C (p.Leu101Pro)	rs74315327
NM_213720.3(CHCHD10):c.176C>T (p.Ser59Leu)	rs587777574
NM_213720.3(CHCHD10):c.197G>T (p.Gly66Val)	rs730880031
NM_213720.3(CHCHD10):c.44G>T (p.Arg15Leu)	rs730880030
NR_003051.3(RMRP):n.-24_-10dup15	rs727502776
NR_003051.4(RMRP):n.184G>A	rs1554651153
NR_003051.4(RMRP):n.97_98dup	rs1340624774
NR_023317.1(RNU7-1):n.40_47del	rs1255543147
PALB2:c.2515-1G>T	rs587776417
Single allele
UGT1A1*28	rs3064744