Variants from HudsonAlpha Institute for Biotechnology, HudsonAlpha Institute for Biotechnology with conflicting interpretations

Minimum review status of the submission from HudsonAlpha Institute for Biotechnology, HudsonAlpha Institute for Biotechnology:	★☆☆☆ criteria provided ★★★☆ reviewed by expert panel ★★★★ practice guideline	Collection method of the submission from HudsonAlpha Institute for Biotechnology, HudsonAlpha Institute for Biotechnology:	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
745	276	4	199	12	4	61	255

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
HudsonAlpha Institute for Biotechnology, HudsonAlpha Institute for Biotechnology		pathogenic	likely pathogenic	uncertain significance	likely benign	benign	drug response
	pathogenic	4	121	12	1	1	3
	likely pathogenic	77	0	23	3	1	1
	uncertain significance	15	16	0	4	2	0
	likely benign	0	0	6	0	2	0
	benign	0	0	0	1	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	107	0	25	6	0	13	44
OMIM	0	113	4	21	0	0	2	27
Baylor Genetics	0	92	0	22	0	0	3	25
Counsyl	0	31	0	18	0	0	1	19
Fulgent Genetics, Fulgent Genetics	0	72	0	13	1	0	4	18
Illumina Laboratory Services, Illumina	0	38	0	14	1	0	3	18
Victorian Clinical Genetics Services, Murdoch Childrens Research Institute	0	79	0	12	0	0	4	16
Revvity Omics, Revvity	0	41	0	7	0	0	6	13
3billion	0	63	0	10	0	0	2	12
Genome-Nilou Lab	0	31	0	10	1	0	1	12
Institute of Human Genetics, University of Leipzig Medical Center	0	67	0	10	1	0	1	12
Natera, Inc.	0	34	0	9	0	0	3	12
Women's Health and Genetics/Laboratory Corporation of America, LabCorp	0	58	0	10	0	0	2	12
GeneDx	0	21	0	6	0	0	4	10
Genomics England Pilot Project, Genomics England	0	3	0	10	0	0	0	10
Variantyx, Inc.	0	43	0	8	0	0	1	9
Equipe Genetique des Anomalies du Developpement, Université de Bourgogne	0	17	0	6	0	0	2	8
Mendelics	0	27	0	6	0	0	2	8
ARUP Laboratories, Molecular Genetics and Genomics, ARUP Laboratories	0	22	0	3	0	0	3	6
Genomic Medicine Center of Excellence, King Faisal Specialist Hospital and Research Centre	0	25	0	3	0	0	3	6
Human Genome Sequencing Center Clinical Lab, Baylor College of Medicine	0	26	0	6	0	0	0	6
Laboratorio de Genetica e Diagnostico Molecular, Hospital Israelita Albert Einstein	0	18	0	6	0	0	0	6
Centre for Mendelian Genomics, University Medical Centre Ljubljana	0	9	0	1	0	0	4	5
Dasa	0	14	0	4	0	0	1	5
Department of Pathology and Laboratory Medicine, Sinai Health System	0	19	0	3	0	0	2	5
Greenwood Genetic Center Diagnostic Laboratories, Greenwood Genetic Center	0	22	0	5	0	0	0	5
Laboratoire de Génétique Moléculaire, CHU Bordeaux	0	4	0	4	0	0	1	5
Laboratory for Molecular Medicine, Mass General Brigham Personalized Medicine	0	23	0	4	0	0	1	5
MGZ Medical Genetics Center	0	38	0	4	0	0	1	5
Myriad Genetics, Inc.	0	37	0	4	1	0	0	5
Neuberg Centre For Genomic Medicine, NCGM	0	27	0	5	0	0	0	5
SIB Swiss Institute of Bioinformatics	0	0	0	5	0	0	0	5
Solve-RD Consortium	0	0	0	5	0	0	0	5
All of Us Research Program, National Institutes of Health	0	20	0	3	0	0	1	4
CeGaT Center for Human Genetics Tuebingen	0	5	0	2	0	0	2	4
Centre de Génétique Moléculaire et Chromosomique, Unité de génétique de l'Obésité et des Dyslipidémies, APHP, GH Hôpitaux Universitaires Pitié-Salpêtrière / Charles-Foix	0	1	0	3	0	0	1	4
ClinPGx	0	0	0	0	0	4	0	4
Daryl Scott Lab, Baylor College of Medicine	0	10	0	4	0	0	0	4
Genetic Services Laboratory, University of Chicago	0	28	0	4	0	0	0	4
Juno Genomics, Hangzhou Juno Genomics, Inc	0	21	0	4	0	0	0	4
Robarts Research Institute, Western University	0	1	0	3	0	0	1	4
Broad Center for Mendelian Genomics, Broad Institute of MIT and Harvard	0	10	0	3	0	0	0	3
Cardiovascular Research Group, Instituto Nacional de Saude Doutor Ricardo Jorge	0	2	0	2	0	0	1	3
Center for Genomics, Ann and Robert H. Lurie Children's Hospital of Chicago	0	1	0	2	1	0	0	3
Center for Medical Genetics Ghent, University of Ghent	0	0	0	3	0	0	0	3
ClinGen Potassium Channel Arrhythmia Variant Curation Expert Panel, ClinGen	0	0	0	3	0	0	0	3
Color Diagnostics, LLC DBA Color Health	0	9	0	2	0	0	1	3
Intergen Genetics and Rare Diseases Diagnosis Center	0	1	0	2	0	0	1	3
Kasturba Medical College, Manipal, Kasturba Medical College, Manipal, Manipal Academy of Higher Education, Manipal, India	0	13	0	2	0	0	1	3
LDLR-LOVD, British Heart Foundation	0	2	0	3	0	0	0	3
Laboratory of Genetics and Molecular Cardiology, University of São Paulo	0	2	0	2	0	0	1	3
Laboratory of Medical Genetics, National & Kapodistrian University of Athens	0	16	0	3	0	0	0	3
Laboratory of molecular diagnosis of dyslipidemias, Università egli studi di Napoli Federico II	0	0	0	3	0	0	0	3
Molecular Genetics, Royal Melbourne Hospital	0	8	0	3	0	0	0	3
New York Genome Center	0	14	0	1	0	0	2	3
Rady Children's Institute for Genomic Medicine, Rady Children's Hospital San Diego	0	14	0	3	0	0	0	3
St. Jude Molecular Pathology, St. Jude Children's Research Hospital	0	11	0	2	0	0	1	3
Undiagnosed Diseases Network, NIH	0	8	0	2	0	0	1	3
Beijing Key Laboratory for Genetic Research of Skeletal Deformity, Peking Union Medical College Hospital	0	0	0	2	0	0	0	2
Biesecker Lab/Clinical Genomics Section, National Institutes of Health	0	4	0	2	0	0	0	2
Biochemical Molecular Genetic Laboratory, King Abdulaziz Medical City	0	4	0	2	0	0	0	2
CENTOGENE GmbH and LLC - Guiding Precision Medicine	0	10	0	1	0	0	1	2
CSER _CC_NCGL, University of Washington	0	1	0	1	0	0	1	2
Center for Human Genetics, Inc, Center for Human Genetics, Inc	0	6	0	2	0	0	0	2
Clinical Genetics Laboratory, University Hospital Schleswig-Holstein	0	7	0	1	0	0	1	2
Department of Human Genetics, Hannover Medical School	0	15	0	2	0	0	0	2
Division of Human Genetics, Children's Hospital of Philadelphia	0	4	0	2	0	0	0	2
Dubai Health Genomic Medicine Center, Dubai Health	0	8	0	2	0	0	0	2
Foundation for Research in Genetics and Endocrinology, FRIGE's Institute of Human Genetics	0	7	0	2	0	0	0	2
Fundacion Hipercolesterolemia Familiar	0	0	0	1	0	0	1	2
Genetics and Genomic Medicine Centre, NeuroGen Healthcare, NeuroGen Healthcare	0	0	0	2	0	0	0	2
Genetics and Molecular Pathology, SA Pathology	0	22	0	2	0	0	0	2
HudsonAlpha Institute for Biotechnology, HudsonAlpha Institute for Biotechnology	1265	9	0	2	0	0	0	2
Institute of Human Genetics Munich, TUM University Hospital	0	21	0	2	0	0	0	2
Institute of Human Genetics, Heidelberg University	0	2	0	1	0	0	1	2
Institute of Immunology and Genetics Kaiserslautern	0	13	0	2	0	0	0	2
Institute of Medical Genetics and Applied Genomics, University Hospital Tübingen	0	13	0	2	0	0	0	2
Johns Hopkins Genomics, Johns Hopkins University	0	11	0	1	0	0	1	2
Juha Muilu Group; Institute for Molecular Medicine Finland (FIMM)	0	0	0	2	0	0	0	2
Knight Diagnostic Laboratories, Oregon Health and Sciences University	0	6	0	2	0	0	0	2
Laboratory of Genetics, Children's Clinical University Hospital Latvia	0	1	0	2	0	0	0	2
Lupski Lab, Baylor-Hopkins CMG, Baylor College of Medicine	0	1	0	1	0	0	1	2
Medical and Scientific Branch, Hong Kong Genome Institute	0	4	0	2	0	0	0	2
Molecular Genetics Laboratory, Centre for Cardiovascular Surgery and Transplantation	0	0	0	2	0	0	0	2
Pars Genome Lab	0	0	0	1	0	0	1	2
PreventionGenetics, part of Exact Sciences	0	10	0	1	1	0	0	2
Sharing Clinical Reports Project (SCRP)	0	24	0	2	0	0	0	2
deCODE genetics, Amgen	0	0	0	2	0	0	0	2
ARUP Laboratories, Cytogenetics and Genomic Microarray, ARUP Laboratories	0	1	0	1	0	0	0	1
Al Jawhara Center for Molecular Medicine, Arabian Gulf University	0	0	0	0	0	0	1	1
Ambry Genetics	0	17	0	1	0	0	0	1
American College of Medical Genetics and Genomics (ACMG)	0	4	0	1	0	0	0	1
Autoinflammatory diseases unit, CHU de Montpellier	0	3	0	1	0	0	0	1
Blueprint Genetics	0	2	0	1	0	0	0	1
Breast Cancer Information Core (BIC) (BRCA2)	0	13	0	1	0	0	0	1
Brunham Lab, Centre for Heart and Lung Innovation, University of British Columbia	0	4	0	1	0	0	0	1
CHU Sainte-Justine Research Center, University of Montreal	0	0	0	1	0	0	0	1
Cambridge Genomics Laboratory, East Genomic Laboratory Hub, NHS Genomic Medicine Service	0	6	0	1	0	0	0	1
Cardiogenetics and Myogenetics Molecular and Cellular Functional Unit, Aphp Sorbonne University-Hopital Pitie Salpetriere	0	0	0	1	0	0	0	1
Cardiovascular Genetics Laboratory, PathWest Laboratory Medicine WA - Fiona Stanley Hospital	0	3	0	1	0	0	0	1
Center for Genetic Medicine Research, Children's National Medical Center	0	0	0	1	0	0	0	1
Center for Human Genetics, University of Leuven	0	0	0	1	0	0	0	1
Center for Statistical Genetics, Columbia University	0	0	0	0	0	0	1	1
Center of Genomic medicine, Geneva, University Hospital of Geneva	0	4	0	1	0	0	0	1
Centre de Biologie Pathologie Génétique, Centre Hospitalier Universitaire de Lille	0	4	0	1	0	0	0	1
Centre for Population Genomics, CPG	0	3	0	1	0	0	0	1
ClinGen ACADVL Variant Curation Expert Panel, ClinGen	0	0	0	0	0	0	1	1
ClinGen Familial Hypercholesterolemia Variant Curation Expert Panel	0	4	0	1	0	0	0	1
ClinGen Malignant Hyperthermia Susceptibility Variant Curation Expert Panel, ClinGen	0	4	0	0	0	0	1	1
ClinVar Staff, National Center for Biotechnology Information (NCBI)	0	0	0	1	0	0	0	1
Clinical Genetics DNA and cytogenetics Diagnostics Lab, Erasmus MC, Erasmus Medical Center	0	10	0	1	0	0	0	1
Clinical Genomics Laboratory, Stanford Medicine	0	8	0	1	0	0	0	1
Consortium of Investigators of Modifiers of BRCA1/2 (CIMBA), c/o University of Cambridge	0	24	0	1	0	0	0	1
Courtagen Diagnostics Laboratory, Courtagen Life Sciences	0	4	0	1	0	0	0	1
Cytogenetics and Genomics Lab, Cyprus Institute Of Neurology and Genetics	0	0	0	1	0	0	0	1
Cytogenetics, Genetics Associates, Inc.	0	0	0	0	0	0	1	1
Department of Medical Genetics, Oslo University Hospital	0	9	0	1	0	0	0	1
Department of Molecular Diagnostics, Institute of Oncology Ljubljana	0	11	0	1	0	0	0	1
Department of Molecular Genetics, Istishari Arab Hospital	0	1	0	1	0	0	0	1
Department of Neurology and Geriatrics, Kagoshima University Graduate School of Medical and Dental Sciences	0	0	0	1	0	0	0	1
Diagnostic Laboratory, Department of Genetics, University Medical Center Groningen	0	15	0	1	0	0	0	1
Diagnostic and Treatment Unit for Congenital Metabolic Diseases, Hopital Clínico Universitario de Santiago de Compostela (CHUS)	0	0	0	1	0	0	0	1
Division of Human Genetics, National Health Laboratory Service/University of the Witwatersrand	0	1	0	1	0	0	0	1
Donald Williams Parsons Laboratory, Baylor College of Medicine	0	1	0	0	0	0	1	1
Département de Neurologie, Hospices Civils de Lyon	0	0	0	1	0	0	0	1
Embryology Laboratory, Victor Chang Cardiac Research Institute	0	0	0	1	0	0	0	1
Evidence-based Network for the Interpretation of Germline Mutant Alleles (ENIGMA)	0	22	0	1	0	0	0	1
First Genomix Gene Laboratory, Genetic Diagnostics Department	0	11	0	1	0	0	0	1
Geisinger Autism and Developmental Medicine Institute, Geisinger Health System	0	1	0	1	0	0	0	1
Genetics Laboratory, Great Ormond Street Hospital NHS Foundation Trust, North Thames Genomic Laboratory Hub	0	2	0	1	0	0	0	1
Genome Diagnostics Laboratory, The Hospital for Sick Children	0	7	0	1	0	0	0	1
Genome Diagnostics Laboratory, University Medical Center Utrecht	0	12	0	1	0	0	0	1
Genomenon, Inc, Genomenon, Inc	0	1	0	1	0	0	0	1
Genomic Diagnostic Laboratory, Division of Genomic Diagnostics, Children's Hospital of Philadelphia	0	3	0	1	0	0	0	1
Genomic Medicine Lab, University of California San Francisco	0	7	0	1	0	0	0	1
Giacomini Lab, University of California, San Francisco	0	0	0	0	0	0	1	1
Human Genetics Bochum, Ruhr University Bochum	0	3	0	1	0	0	0	1
Iberoamerican FH Network	0	0	0	1	0	0	0	1
Institute for Clinical Genetics, University Hospital TU Dresden, University Hospital TU Dresden	0	1	0	0	0	0	1	1
Institute for Genomic Medicine (IGM) Clinical Laboratory, Nationwide Children's Hospital	0	8	0	1	0	0	0	1
Institute for Integrative and Experimental Genomics, University of Luebeck	0	0	0	1	0	0	0	1
Institute of Human Genetics, Clinical Exome/Genome Diagnostics Group, University Hospital Bonn	0	7	0	1	0	0	0	1
KCCC/NGS Laboratory, Kuwait Cancer Control Center	0	8	0	1	0	0	0	1
Kariminejad - Najmabadi Pathology & Genetics Center	0	0	0	1	0	0	0	1
Khoo Teck Puat Hospital, NHG Health	0	0	0	1	0	0	0	1
Laboratorium voor Moleculaire Diagnostiek Experimentele Vasculaire Geneeskunde, Academisch Medisch Centrum	0	4	0	1	0	0	0	1
Laboratory of Genetic Epidemiology, Research Centre for Medical Genetics	0	0	0	1	0	0	0	1
Laboratory of Inherited Metabolic Diseases, Research centre for medical genetics	0	0	0	0	0	0	1	1
Laboratory of Molecular Genetics, National Medical Research Center for Therapy and Preventive Medicine	0	2	0	1	0	0	0	1
Laboratory of Neurogenetics and Neuroinflammation, Institut Imagine	0	1	0	0	0	0	1	1
MGH Harvard Center for Reproductive Medicine, Massachusetts General Hospital	0	0	0	0	0	0	1	1
MVZ Martinsried, Medicover Genetics	0	7	0	0	0	0	1	1
Medical Cytogenetics and Molecular Genetics Laboratory, IRCCS Istituto Auxologico Italiano	0	2	0	1	0	0	0	1
Molecular Diagnostics Lab, Nemours Children's Health, Delaware	0	3	0	1	0	0	0	1
Molecular Genetics Lab, CHRU Brest	0	0	0	1	0	0	0	1
Molecular Genetics Laboratory, BC Children's and BC Women's Hospitals	0	2	0	1	0	0	0	1
Molecular Genetics Laboratory, London Health Sciences Centre	0	0	0	1	0	0	0	1
Molecular Genetics and NGS Laboratory, Hospital Fundacion Valle Del Lili	0	0	0	1	0	0	0	1
Molecular Pathology, Peter Maccallum Cancer Centre	0	15	0	1	0	0	0	1
NIHR Bioresource Rare Diseases, University of Cambridge	0	0	0	1	0	0	0	1
National Institute of Allergy and Infectious Diseases - Centralized Sequencing Program, National Institutes of Health	0	1	0	1	0	0	0	1
OLLIN Analises Genomicas, OLLIN	0	8	0	1	0	0	0	1
Otogenetics	0	7	0	1	0	0	0	1
PPA2 laboratory, University of Otago	0	0	0	0	0	0	1	1
Pediatrics, West China Second University Hospital, Sichuan University	0	0	0	1	0	0	0	1
Petrovsky National Research Centre of Surgery, The Federal Agency for Scientific Organizations	0	2	0	1	0	0	0	1
Raymond Lab, University of Cambridge	0	0	0	1	0	0	0	1
Section for Clinical Neurogenetics, University of Tübingen	0	0	0	1	0	0	0	1
Service of Pediatric Gastrohepatology and Metabolic Diseases, University of Medicine of Tirana	0	0	0	1	0	0	0	1
U4M - Lille University & CHRU Lille, Université de Lille - CHRU de Lille	0	4	0	1	0	0	0	1
UCLA Clinical Genomics Center, UCLA	0	0	0	1	0	0	0	1
University of Washington Center for Mendelian Genomics, University of Washington	0	1	0	1	0	0	0	1
Wong Mito Lab, Molecular and Human Genetics, Baylor College of Medicine	0	2	0	0	0	0	1	1
Zotz-Klimas Genetics Lab, MVZ Zotz Klimas	0	4	0	1	0	0	0	1

All variants with conflicting interpretations #

HGVS	dbSNP	gnomAD frequency
NM_000275.3(OCA2):c.1327G>A (p.Val443Ile)	rs121918166	0.00350
NM_003060.4(SLC22A5):c.1463G>A (p.Arg488His)	rs28383481	0.00347
NM_001048174.2(MUTYH):c.1103G>A (p.Gly368Asp)	rs36053993	0.00341
NM_001330078.2(NRXN1):c.1285C>T (p.Pro429Ser)	rs78540316	0.00323
NM_000065.5(C6):c.2381+2T>C	rs76202909	0.00242
NM_001048174.2(MUTYH):c.452A>G (p.Tyr151Cys)	rs34612342	0.00168
NM_144666.3(DNHD1):c.5617C>A (p.Arg1873Ser)	rs575635539	0.00166
NM_001371986.1(UNC80):c.1806G>C (p.Gln602His)	rs200473652	0.00163
NM_020822.3(KCNT1):c.2729G>A (p.Arg910Gln)	rs151272083	0.00162
NM_183065.4(TMEM107):c.*759C>T	rs201787275	0.00162
NM_006361.6(HOXB13):c.251G>A (p.Gly84Glu)	rs138213197	0.00160
NM_001354604.2(MITF):c.1273G>A (p.Glu425Lys)	rs149617956	0.00158
NM_018136.5(ASPM):c.5947A>T (p.Met1983Leu)	rs141715950	0.00115
NM_000053.4(ATP7B):c.2605G>A (p.Gly869Arg)	rs191312027	0.00101
NM_207346.3(TSEN54):c.919G>T (p.Ala307Ser)	rs113994152	0.00090
NM_001148.6(ANK2):c.4373A>G (p.Glu1458Gly)	rs72544141	0.00085
NM_176869.3(PPA2):c.514G>A (p.Glu172Lys)	rs146013446	0.00069
NM_000441.2(SLC26A4):c.1003T>C (p.Phe335Leu)	rs111033212	0.00065
NM_000053.4(ATP7B):c.3688A>G (p.Ile1230Val)	rs200911496	0.00049
NM_138694.4(PKHD1):c.107C>T (p.Thr36Met)	rs137852944	0.00048
NM_014305.4(TGDS):c.298G>T (p.Ala100Ser)	rs140430952	0.00041
NM_001292063.2(OTOG):c.2464C>T (p.Gln822Ter)	rs554847663	0.00040
NM_019109.5(ALG1):c.773C>T (p.Ser258Leu)	rs28939378	0.00036
NM_000441.2(SLC26A4):c.707T>C (p.Leu236Pro)	rs80338848	0.00034
NM_000492.4(CFTR):c.3454G>C (p.Asp1152His)	rs75541969	0.00033
NM_001332.4(CTNND2):c.671C>T (p.Pro224Leu)	rs769623284	0.00032
NM_007194.4(CHEK2):c.1427C>T (p.Thr476Met)	rs142763740	0.00032
NM_014874.4(MFN2):c.2119C>T (p.Arg707Trp)	rs119103267	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_000100.4(CSTB):c.67-1G>C	rs147484110	0.00026
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_015836.4(WARS2):c.791A>G (p.Tyr264Cys)	rs139194636	0.00024
NM_000335.5(SCN5A):c.3908C>T (p.Thr1303Met)	rs199473603	0.00022
NM_001369.3(DNAH5):c.10815del (p.Pro3606fs)	rs397515540	0.00019
NM_007255.3(B4GALT7):c.38G>A (p.Trp13Ter)	rs200503833	0.00019
NM_024513.4(FYCO1):c.4271G>A (p.Arg1424Gln)	rs140159323	0.00019
NM_014270.5(SLC7A9):c.313G>A (p.Gly105Arg)	rs121908480	0.00018
NM_000303.3(PMM2):c.368G>A (p.Arg123Gln)	rs141498002	0.00017
NM_020821.3(VPS13C):c.10954C>T (p.Arg3652Ter)	rs138846118	0.00016
NM_003041.4(SLC5A2):c.885+5G>A	rs200228142	0.00014
NM_000169.3(GLA):c.1088G>A (p.Arg363His)	rs111422676	0.00013
NM_001164508.2(NEB):c.61G>A (p.Glu21Lys)	rs199907781	0.00013
NM_019109.5(ALG1):c.1187+3A>G	rs369160589	0.00012
NM_000540.3(RYR1):c.1840C>T (p.Arg614Cys)	rs118192172	0.00011
NM_002109.6(HARS1):c.410G>A (p.Arg137Gln)	rs191391414	0.00010
NM_000133.4(F9):c.1345C>T (p.Arg449Trp)	rs757996262	0.00008
NM_016222.4(DDX41):c.415_418dup (p.Asp140delinsGlyTer)	rs762890562	0.00007
NM_021120.4(DLG3):c.1721G>A (p.Arg574Gln)	rs149595793	0.00007
NM_001384474.1(LOXHD1):c.6539G>A (p.Gly2180Glu)	rs763915229	0.00006
NM_138694.4(PKHD1):c.5912G>A (p.Gly1971Asp)	rs180675584	0.00006
NM_152393.4(KLHL40):c.1405G>A (p.Gly469Ser)	rs367579275	0.00006
NM_181789.4(GLDN):c.95C>A (p.Ala32Glu)	rs779432560	0.00006
NM_000051.4(ATM):c.8147T>C (p.Val2716Ala)	rs587782652	0.00005
NM_000070.3(CAPN3):c.2093G>A (p.Arg698His)	rs190793093	0.00005
NM_000540.3(RYR1):c.7300G>A (p.Gly2434Arg)	rs121918593	0.00005
NM_019616.4(F7):c.364+1G>A	rs1056071555	0.00005
NM_000083.3(CLCN1):c.920T>C (p.Phe307Ser)	rs80356701	0.00004
NM_000520.6(HEXA):c.986+3A>G	rs200926928	0.00004
NM_004646.4(NPHS1):c.2227C>T (p.Arg743Cys)	rs386833909	0.00004
NM_145691.4(ATPAF2):c.133+1G>T	rs147941728	0.00004
NM_000218.3(KCNQ1):c.1552C>T (p.Arg518Ter)	rs17215500	0.00003
NM_000527.5(LDLR):c.1747C>T (p.His583Tyr)	rs730882109	0.00003
NM_000527.5(LDLR):c.1775G>A (p.Gly592Glu)	rs137929307	0.00003
NM_000527.5(LDLR):c.682G>T (p.Glu228Ter)	rs121908029	0.00003
NM_001360.3(DHCR7):c.546G>A (p.Trp182Ter)	rs1032242817	0.00003
NM_002834.5(PTPN11):c.794G>A (p.Arg265Gln)	rs376607329	0.00003
NM_003060.4(SLC22A5):c.424G>T (p.Ala142Ser)	rs151231558	0.00003
NM_005984.5(SLC25A1):c.844C>T (p.Arg282Cys)	rs431905509	0.00003
NM_017799.4(TMEM260):c.1869+1G>A	rs141599092	0.00003
NM_018161.5(NADSYN1):c.1459C>T (p.Arg487Ter)	rs368115694	0.00003
NM_020458.4(TTC7A):c.1433T>C (p.Leu478Pro)	rs201100272	0.00003
NM_020822.3(KCNT1):c.136C>T (p.Leu46Phe)	rs869312682	0.00003
NM_020975.6(RET):c.1998G>T (p.Lys666Asn)	rs146646971	0.00003
NM_000179.3(MSH6):c.3226C>T (p.Arg1076Cys)	rs63750617	0.00002
NM_000256.3(MYBPC3):c.26-2A>G	rs376395543	0.00002
NM_000257.4(MYH7):c.1727A>G (p.His576Arg)	rs727504238	0.00002
NM_000257.4(MYH7):c.958G>A (p.Val320Met)	rs376897125	0.00002
NM_000527.5(LDLR):c.551G>A (p.Cys184Tyr)	rs121908039	0.00002
NM_001369.3(DNAH5):c.12617G>A (p.Trp4206Ter)	rs372118787	0.00002
NM_001375405.1(CEP120):c.2323C>T (p.Gln775Ter)	rs759125480	0.00002
NM_004211.5(SLC6A5):c.9C>A (p.Cys3Ter)	rs752254977	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_153717.3(EVC):c.2782+1G>T	rs1007534611	0.00002
NM_000070.3(CAPN3):c.1318C>T (p.Arg440Trp)	rs777323132	0.00001
NM_000083.3(CLCN1):c.950G>A (p.Arg317Gln)	rs80356702	0.00001
NM_000218.3(KCNQ1):c.477+5G>A	rs397508111	0.00001
NM_000218.3(KCNQ1):c.691C>T (p.Arg231Cys)	rs199473457	0.00001
NM_000257.4(MYH7):c.428G>A (p.Arg143Gln)	rs397516209	0.00001
NM_000297.4(PKD2):c.1319+1G>A	rs1131692280	0.00001
NM_000303.3(PMM2):c.58C>T (p.Pro20Ser)	rs949271895	0.00001
NM_000303.3(PMM2):c.66+1G>T	rs937726878	0.00001
NM_000310.4(PPT1):c.776dup (p.Glu260fs)	rs1349528345	0.00001
NM_000342.3(SLC4A1):c.1462G>A (p.Val488Met)	rs28931584	0.00001
NM_000352.6(ABCC8):c.2857C>T (p.Gln953Ter)	rs541269678	0.00001
NM_000370.3(TTPA):c.552G>A (p.Thr184=)	rs181109321	0.00001
NM_000391.4(TPP1):c.833A>G (p.Gln278Arg)	rs796053439	0.00001
NM_000535.7(PMS2):c.251-2A>T	rs587779340	0.00001
NM_000540.3(RYR1):c.5183C>T (p.Ser1728Phe)	rs193922781	0.00001
NM_000540.3(RYR1):c.7372C>T (p.Arg2458Cys)	rs28933397	0.00001
NM_001048174.2(MUTYH):c.225G>A (p.Trp75Ter)	rs748170941	0.00001
NM_001083116.3(PRF1):c.1349C>T (p.Thr450Met)	rs189650890	0.00001
NM_003000.3(SDHB):c.137G>A (p.Arg46Gln)	rs772551056	0.00001
NM_003721.4(RFXANK):c.454_455del (p.Ile152fs)	rs753338285	0.00001
NM_004975.4(KCNB1):c.986A>G (p.Asn329Ser)	rs1984257387	0.00001
NM_005061.3(RPL3L):c.80G>A (p.Gly27Asp)	rs770344400	0.00001
NM_005273.4(GNB2):c.217G>A (p.Ala73Thr)	rs1424516740	0.00001
NM_006415.4(SPTLC1):c.431T>A (p.Val144Asp)	rs119482083	0.00001
NM_007289.4(MME):c.1241A>G (p.Tyr414Cys)	rs202095767	0.00001
NM_007373.4(SHOC2):c.1439A>C (p.Asn480Thr)	rs995403413	0.00001
NM_007373.4(SHOC2):c.4A>G (p.Ser2Gly)	rs267607048	0.00001
NM_014425.5(INVS):c.1789C>T (p.Arg597Ter)	rs755288504	0.00001
NM_018026.4(PACS1):c.607C>T (p.Arg203Trp)	rs398123009	0.00001
NM_020458.4(TTC7A):c.2495C>T (p.Ala832Val)	rs755985958	0.00001
NM_025137.4(SPG11):c.6899T>C (p.Leu2300Pro)	rs371334506	0.00001
NM_138694.4(PKHD1):c.8555-2A>C	rs1020621286	0.00001
NM_152393.4(KLHL40):c.100G>C (p.Asp34His)	rs778565563	0.00001
GRCh37/hg19 15q11.2(chr15:22770421-23282799)x1
NC_012920.1(MT-TL1):m.3243A>G	rs199474657
NM_000018.4(ACADVL):c.507_527del (p.Met169_Gly175del)	rs796051920
NM_000033.4(ABCD1):c.1849C>T (p.Arg617Cys)	rs4010613
NM_000037.4(ANK1):c.4000C>T (p.Arg1334Ter)	rs1172677213
NM_000059.4(BRCA2):c.5350_5351del (p.Asn1784fs)	rs80359507
NM_000059.4(BRCA2):c.5616_5620del (p.Lys1872fs)	rs80359525
NM_000059.4(BRCA2):c.7024C>T (p.Gln2342Ter)	rs80358928
NM_000059.4(BRCA2):c.8488-1G>A	rs397507404
NM_000089.4(COL1A2):c.1072G>A (p.Gly358Ser)	rs66619856
NM_000113.3(TOR1A):c.904GAG[1] (p.Glu303del)	rs80358233
NM_000138.5(FBN1):c.6431A>G (p.Asn2144Ser)	rs137854461
NM_000218.3(KCNQ1):c.1096C>T (p.Arg366Trp)	rs199473411
NM_000249.4(MLH1):c.306G>T (p.Glu102Asp)	rs63751665
NM_000256.3(MYBPC3):c.3330+5G>C	rs373746463
NM_000257.4(MYH7):c.2770G>A (p.Glu924Lys)	rs121913628
NM_000284.4(PDHA1):c.1142_1145dup (p.Trp383fs)	rs606231189
NM_000303.3(PMM2):c.205C>T (p.Pro69Ser)	rs769648248
NM_000308.4(CTSA):c.51_54delinsC (p.Leu19del)	rs886039898
NM_000465.4(BARD1):c.1935_1954dup (p.Glu652fs)	rs587780024
NM_000489.6(ATRX):c.536A>G (p.Asn179Ser)	rs398123425
NM_000492.3(CFTR):c.1521_1523del (p.Phe508del)	rs113993960
NM_000492.4(CFTR):c.350G>A (p.Arg117His)	rs78655421
NM_000527.5(LDLR):c.1474G>A (p.Asp492Asn)	rs373646964
NM_000535.7(PMS2):c.1831dup (p.Ile611fs)	rs63750250
NM_000540.3(RYR1):c.14582G>A (p.Arg4861His)	rs63749869
NM_000540.3(RYR1):c.14693T>C (p.Ile4898Thr)	rs118192170
NM_000548.5(TSC2):c.1362-10C>A	rs45446697
NM_000587.4(C7):c.1561C>A (p.Arg521Ser)	rs121964920
NM_000807.4(GABRA2):c.862A>G (p.Thr288Ala)	rs2475296530
NM_001003800.2(BICD2):c.2320G>A (p.Glu774Lys)	rs1131691347
NM_001029896.2(WDR45):c.973+1G>A	rs869312661
NM_001037333.3(CYFIP2):c.259C>T (p.Arg87Cys)	rs1131692231
NM_001042492.3(NF1):c.3596C>G (p.Thr1199Arg)	rs1555615047
NM_001042492.3(NF1):c.587-2A>G	rs1057518360
NM_001069.3(TUBB2A):c.728C>T (p.Pro243Leu)	rs1554122947
NM_001110792.2(MECP2):c.1193_1233del (p.Leu398fs)	rs267608327
NM_001110792.2(MECP2):c.63-6C>G	rs267608411
NM_001110792.2(MECP2):c.916C>T (p.Arg306Ter)	rs61751362
NM_001127222.2(CACNA1A):c.2133C>G (p.Ile711Met)	rs764839814
NM_001127222.2(CACNA1A):c.4174G>A (p.Val1392Met)	rs794727411
NM_001127222.2(CACNA1A):c.4633C>T (p.Arg1545Ter)	rs121909324
NM_001127222.2(CACNA1A):c.4979G>A (p.Arg1660His)	rs121908216
NM_001134831.2(AHI1):c.2988del (p.Val997fs)	rs755246809
NM_001172509.2(SATB2):c.1964C>T (p.Pro655Leu)	rs1553538919
NM_001244008.2(KIF1A):c.946C>T (p.Arg316Trp)	rs672601370
NM_001267550.2(TTN):c.107889del (p.Lys35963fs)	rs281864930
NM_001282531.3(ADNP):c.2188C>T (p.Arg730Ter)	rs886041116
NM_001290047.2(CECR2):c.2281C>T (p.Arg761Ter)	rs2147031368
NM_001323289.2(CDKL5):c.89G>A (p.Cys30Tyr)	rs1555940536
NM_001360.3(DHCR7):c.964-1G>C	rs138659167
NM_001366145.2(TRPM3):c.3004G>A (p.Val1002Met)	rs1564493599
NM_001372066.1(TFAP2A):c.769A>G (p.Arg257Gly)	rs121909574
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.530C>T (p.Pro177Leu)	rs869312668
NM_001376.5(DYNC1H1):c.1792C>T (p.Arg598Cys)	rs587780564
NM_001385012.1(NBEA):c.6637C>T (p.Arg2213Ter)	rs878853169
NM_001807.6(CEL):c.337C>T (p.Gln113Ter)	rs1200339761
NM_002107.7(H3-3A):c.365C>T (p.Pro122Leu)	rs1576203003
NM_002397.5(MEF2C):c.71G>A (p.Arg24Lys)	rs869312698
NM_002834.5(PTPN11):c.215C>G (p.Ala72Gly)	rs121918454
NM_002834.5(PTPN11):c.772G>A (p.Glu258Lys)	rs1279770165
NM_002834.5(PTPN11):c.846C>G (p.Ile282Met)	rs397507530
NM_002880.4(RAF1):c.776C>G (p.Ser259Cys)	rs397516827
NM_003070.5(SMARCA2):c.3485G>A (p.Arg1162His)	rs281875186
NM_003072.5(SMARCA4):c.2851G>A (p.Gly951Arg)	rs1060499936
NM_003091.4(SNRPB):c.155+301G>C	rs786201019
NM_003105.6(SORL1):c.1247G>A (p.Arg416Gln)	rs377550239
NM_003119.4(SPG7):c.1450-1_1457del	rs768823392
NM_003482.4(KMT2D):c.13871C>T (p.Ser4624Leu)	rs886043233
NM_003924.4(PHOX2B):c.741_758dup (p.Ala255_Ala260dup)	rs771383153
NM_004113.6(FGF12):c.155G>A (p.Arg52His)	rs886039903
NM_004333.6(BRAF):c.1722C>G (p.His574Gln)	rs397507481
NM_004519.4(KCNQ3):c.688C>T (p.Arg230Cys)	rs796052676
NM_004643.3(PABPN1):c.3GGC[10] (p.Ala9_Ala11dup)	rs193922941
NM_004646.4(NPHS1):c.3250del (p.Val1084fs)	rs386833935
NM_004958.4(MTOR):c.5663T>G (p.Phe1888Cys)	rs869312666
NM_005188.4(CBL):c.1096-4_1096-1del	rs397517077
NM_005629.4(SLC6A8):c.1548C>A (p.Cys516Ter)	rs782074069
NM_005639.3(SYT1):c.1103T>C (p.Ile368Thr)	rs1135402761
NM_006180.6(NTRK2):c.1301A>G (p.Tyr434Cys)	rs886041091
NM_006245.4(PPP2R5D):c.592G>A (p.Glu198Lys)	rs863225082
NM_006306.4(SMC1A):c.3592G>A (p.Glu1198Lys)	rs782175064
NM_006329.4(FBLN5):c.1117C>T (p.Arg373Cys)	rs864309526
NM_006516.4(SLC2A1):c.998G>A (p.Arg333Gln)	rs1553155986
NM_006593.4(TBR1):c.1588_1594dup (p.Thr532fs)	rs869312704
NM_006618.5(KDM5B):c.3727C>T (p.Arg1243Ter)	rs869312703
NM_006772.3(SYNGAP1):c.3583-6G>A	rs869312674
NM_006852.6(TLK2):c.968+1G>A	rs1598620094
NM_006912.6(RIT1):c.67A>C (p.Lys23Gln)	rs869312687
NM_007294.4(BRCA1):c.191G>A (p.Cys64Tyr)	rs55851803
NM_007294.4(BRCA1):c.2679_2682del (p.Lys893fs)	rs80357596
NM_007294.4(BRCA1):c.3756_3759del (p.Ser1253fs)	rs80357868
NM_012199.5(AGO1):c.1123GAG[1] (p.Glu376del)	rs2148715376
NM_012199.5(AGO1):c.2342C>T (p.Thr781Met)	rs2148725999
NM_013275.6(ANKRD11):c.2197C>T (p.Arg733Ter)	rs886041791
NM_014225.6(PPP2R1A):c.547C>T (p.Arg183Trp)	rs1057519946
NM_014225.6(PPP2R1A):c.656C>T (p.Ser219Leu)	rs1555791268
NM_014633.5(CTR9):c.1126G>A (p.Glu376Lys)	rs869312709
NM_014975.3(MAST1):c.278C>T (p.Ser93Leu)	rs878853165
NM_014991.6(WDFY3):c.8467C>T (p.Arg2823Trp)	rs1131692269
NM_014991.6(WDFY3):c.8864_8867dup (p.Phe2957fs)	rs878853167
NM_015100.4(POGZ):c.1748A>G (p.His583Arg)	rs1131692270
NM_015100.4(POGZ):c.3456_3457del (p.Glu1154fs)	rs869320764
NM_015295.3(SMCHD1):c.511T>G (p.Phe171Val)	rs1135402740
NM_016032.4(ZDHHC9):c.267del (p.Ser89fs)	rs2522218770
NM_016148.5(SHANK1):c.2149C>T (p.Arg717Ter)	rs2123136215
NM_016188.5(ACTL6B):c.1027G>A (p.Gly343Arg)	rs1131692228
NM_017654.4(SAMD9):c.2945G>A (p.Arg982His)	rs1554336974
NM_017780.4(CHD7):c.3301T>C (p.Cys1101Arg)	rs1586393556
NM_017799.4(TMEM260):c.2082_2086AAGAA[1] (p.Lys696fs)	rs568247949
NM_020338.4(ZMIZ1):c.2758dup (p.Gln920fs)	rs777843533
NM_020975.6(RET):c.1947G>A (p.Ser649=)	rs377767412
NM_021008.4(DEAF1):c.634G>A (p.Gly212Ser)	rs1057519565
NM_022168.4(IFIH1):c.1178A>T (p.Asp393Val)	rs587777449
NM_022786.3(ARV1):c.518dup (p.Pro174fs)	rs544784472
NM_024408.4(NOTCH2):c.6853C>T (p.Gln2285Ter)	rs1553193507
NM_024513.4(FYCO1):c.3327_3328del (p.Cys1110fs)	rs747093432
NM_024757.5(EHMT1):c.3310G>A (p.Glu1104Lys)	rs886041093
NM_024757.5(EHMT1):c.673C>T (p.Arg225Ter)	rs879255531
NM_031407.7(HUWE1):c.12067C>T (p.Arg4023Cys)	rs1556914274
NM_031844.3(HNRNPU):c.67C>T (p.Arg23Ter)	rs869312701
NM_033310.3(KCNK4):c.698C>T (p.Pro233Leu)	rs2034823903
NM_057175.4(NAA15):c.228_232del (p.Asp76Glufs)	rs1380822792
NM_078480.3(PUF60):c.449_457del (p.Ala150_Phe152del)	rs1131692232
NM_145331.3(MAP3K7):c.143G>A (p.Gly48Glu)	rs1776911945
NM_145690.3(YWHAZ):c.689C>G (p.Ser230Trp)	rs1554612377
NM_153717.3(EVC):c.393del (p.Asp132fs)	rs1437174284
NM_172107.4(KCNQ2):c.910TTC[1] (p.Phe305del)	rs118192212
NM_176869.3(PPA2):c.938C>A (p.Ser313Ter)	rs151331559
NM_178012.5(TUBB2B):c.43C>A (p.Gln15Lys)	rs1085307566
NM_197968.4(ZMYM2):c.1765C>T (p.Arg589Ter)	rs1952668177
NM_198282.4(STING1):c.842G>A (p.Arg281Gln)	rs1561482476
NR_033294.2(SNORD118):n.131C>G	rs746503581