Centrum Medische Genetica - UZ Brussel VUB

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Name of the laboratory:	Centrum Medische Genetica - UZ Brussel VUB
Abbreviation:	CMG-UZ Brussel
Institute name:	Universitair Ziekenhuis Brussel
Abbreviation institute:	UZ Brussel
RIZIV number:	82999039-996
Address:	Laarbeeklaan, 101 1090 Jette Brussels Belgium
Telephone:	0032 2 477 6479
Fax:	0032 2 477 6859
E-mail:	cmg.laboratory@uzbrussel.be info@uzbrussel.be
URL:	http://www.brightcore.be/gene-panels https://ng3.economie.fgov.be/NI/belac/medilabs/scope_pdf/141-MED.pdf https://www.uzbrussel.be/web/centrum-voor-medische-genetica https://www.uzbrussel.be/en/web/genetics/how-to-request-an-analyses https://laboguide.uzbrussel.be/laboguide#Analyses:&&5&21&&&&0
EQA:	2021 DNA Sequencing – NGS (vGermline) EMQN 2016 DNA Sequencing – NGS (vGermline) EMQN 2017 DNA Sequencing – NGS (vGermline) EMQN 2018 DNA Sequencing – NGS (vGermline) EMQN 2017 DNA Sequencing - Sanger EMQN 2015 DNA Sequencing - Sanger EMQN 2016 DNA Sequencing - Sanger EMQN 2018 DNA Sequencing - Sanger EMQN 2019 DNA Sequencing - Sanger EMQN 2017 Somatic NGS mutation testing EMQN 2018 Somatic NGS mutation testing EMQN
Created:	31 Jul 2018 - 13:18
Changed:	09 Aug 2023 - 10:21

Related Genetic Tests

• Abacavir toxicity (HLA-B*57:01 genotyping) - Pharmacogenetics
• Achondroplasia (FGFR3 hot spot mutation - p.Gly380)
• Androgen insensitivity (AR gene)
• Antithrombine III deficiency (thrombophilia) (SERPINC1 gene)
• Azoo-/oligozoospermia (microdeletion of 3 regions of Y-chromosome AZFa, b and c)
• Beta-globin hemoglobinopathies, Hemoglobinopathy C (HbC) (HBB hot spot mutation - p.Glu6Lys)
• Beta-globin hemoglobinopathies, Sickle cell anemia (HbS) (HBB hot spot mutation - p.Glu6Val)
• Breast cancer, hereditary (gene panel)
• Cardiomyopathy, hereditary (gene panel)
• Chronic progressive external ophthalmoplegia (CPEO) (Full sequencing of mtDNA genome)
• Colon carcinoma (hereditary/familial) (gene panel)
• Combined pituitary hormone deficiency 1 (CPHD - POU1F1 gene)
• Combined pituitary hormone deficiency 2 (CPHD - PROP1 gene)
• Congenital malformation gene panel
• Congenital myotonia (Becker-Thomsen disease) (CLCN1 gene)
• Cystic Fibrosis / related disorders (CFTR gene 88 hot spot mutations / newborn screening 12 hot spot mutations)
• Dentatorubral pallidoluysian atrophy - ATN1 gene CAG repeat expansion
• Enzymatic dosage Chitotriosidase
• Enzymatic dosage Fabry disease
• Enzymatic dosage Gaucher disease
• Enzymatic dosage MPS1/Hurler syndrome
• Enzymatic dosage Pompe disease
• Epilepsy gene panel
• Fragile X syndrome/POF/FXTAS - FMR1 gene CGG repeat expansion
• Fructosemia (ALDOB gene)
• GM2-gangliosidosis / Tay-Sachs syndrome diagnostic (HEXA gene hot spot mutations - c.1274_1277dupTATC, c.1421+1G>C and c.805G>A (p.Gly269Ser))
• Gaucher disease diagnostic (GBA gene hot spot mutations - p.Asn409Ser; p.Leu483Pro; c.84dupG; c.115+1G>A; )
• Gaucher disease diagnostic (GBA gene sequencing)
• Globozoospermia (DPY19L2 gene)
• Hemochromatosis hereditary type 1 (HFE gene hot spot mutations - p.Cys282Tyr; p.His63Asp)
• Huntington disease - HTT gene CAG repeat expansion
• Hypocalciuric hypercalcemia, familial type I or Hypocalcemia or Hypoparathyroidism, familial isolated (CASR gene)
• Hypogonadotropic hypogonadism (33 genes)
• Hypokalemic periodic paralysis, type 1 (CACNA1S gene hot spot mutations)
• Incontinentia pigmenti (IKBKG gene)
• Kennedy disease / Spinal and bulbar muscular atrophy (SBMA) - AR gene CAG repeat expansion
• Leber hereditary optic neuropathy (LHON) (hot spot mutations - p.Ala53Thr in MT-ND1; p.Arg340His in MT-ND4; p.Met64Val in MT-ND6)
• Leber hereditary optic neuropathy (LHON) – (DNAJC30 gene)
• Leigh / NARP Syndrome
• Leigh syndrome
• Lissencephaly (LIS1 gene)
• Lissencephaly (Tubulin alpha 1A gene)
• Lysosomal Storage Disease (gene panel)
• Macrozoospermia (AURKC gene)
• Malformations of cortical development (235 genes)
• Maternally inherited deafness
• Maternally-inherited diabetes and deafness / Mitochondrial myopathy with reversible cytochrome C oxidase deficiency / mitochondrial tRNA glutamic acid
• Medium chain acyl-CoA dehydrogenase deficiency (MCAD-ACADM gene)
• Metabolic disorders including disorders of glycosylation, peroxisomal disorders, organic acidurias, glycogenosis disorders, neurotransmitter disorders (213 genes)
• Mitochondrial NeuroGastroIntestinal Encephalomyopathy (MNGIE) syndrome
• Mitochondrial complex II deficiency
• Mitochondrial complex III deficiency / Bjornstad syndrome / Gracile syndrome
• Mitochondrial complex IV deficiency
• Mitochondrial complex V (ATP Synthase) deficiency
• Mitochondrial disorders (gene panel)
• Mitochondrial disorders, mitchondrial DNA based (Full sequencing of mtDNA genome)
• Mitochondrial myopathy, encephalopathy, lactic acidosis, and stroke-like episodes (MELAS) (full sequencing)
• Mitochondrial myopathy, encephalopathy, lactic acidosis, and stroke-like episodes (MELAS) (hot spot mutation - m.3243A>G)
• Mucolipidosis II and III
• Mucopolysaccharidosis (MPS) type I / Hurler-Scheie syndrome
• Mucopolysaccharidosis (MPS) type II / Hunter syndrome
• Mucopolysaccharidosis (MPS) type IIIA / Sanfilippo A
• Mucopolysaccharidosis (MPS) type IIIB, Sanfilippo B
• Mucopolysaccharidosis (MPS) type IVA, Morquio A syndrome
• Mucopolysaccharidosis (MPS) type IVB, Morquio B syndrome / GM1 gangliosidosis
• Mucopolysaccharidosis (MPS) type VII / SLY disease
• Mucopolysacharidosis type IIIa (N-sulfoglucosamine sulfohydrolase)
• Multiple congenital anomalies-hypotonia-seizures syndrome 1
• Myoadenylate deaminase deficiency (AMPD1 gene hot spot mutation - p.Gln12*)
• Myoclonic epilepsy associated with ragged-red fibers (MERFF) (full sequencing) (2nd tier)
• Myoclonic epilepsy associated with ragged-red fibers (MERFF) (hot spot mutation - m.8344A>G) (1st tier)
• Netherton syndrome (SPINK5 gene)
• Neuraminidase deficiency / Sialidosis
• Neurodegeneration with iron accumulation in brain 2A & 2B
• Neurodevelopmental disorders gene panel
• Neuromuscular disorders : congenital & distal myopathy, congenital muscle dystrophy / Limb-girdle muscular dystrophy / Rhabdomyolysis / Myopathy (with prominent contractures) / distal artrogryposis (gene panel)
• Niemann-Pick disease
• Non Invasive Prenatal Testing (NIPT) of trisomies 13, 18 et 21 and sex chromosomes
• Norrie disease (NDP gene)
• Obesitas, early onset (gene panel)
• Oculopharyngeal muscular dystrophy - PABPN1 gene GCN trinucleotide repeats
• Pearson Syndrome
• Periodic paralysis (myotonia) / Paramyotonia congenita (SCN4A gene)
• Polymicrogyria, asymmetric
• Polymicrogyria, bilateral perisylvian, frontoparietal
• Pompe disease, Glycogen storage disease II (GAA gene)
• Premature Ovarian Failure/Primary Ovarian Insufficiency (POF/POI) (32 genes)
• Primary cardiac arrhythmias (Atrial fibrillation / Brugada syndome / Catech. polymorphic ventricular tachycardia / Early repolaristion syndrome / Ideopathic ventricular fibrillation / Long QT syndrome / Sick sinus syndrome / Short QT syndrome) (gene pane)
• Progressive external ophthalmoplegia
• Pyruvate dehydrogenase deficiency / X-linked Leigh syndrome
• Recurrent metabolic encephalomyopathic crises-rhabdomyolysis-cardiac arrhythmia-intellectual disability syndrome (TANGO2 gene)
• Sandhoff disease
• Segawa syndrome (GCH1 gene)
• Segawa syndrome (TH gene)
• Septo-optic dysplasia (HESX1 gene)
• Skeletal dysplasia (gene panel)
• Spinal muscular atrophy (SMA) type 1 (Werdnig-Hoffmann), type 2, type 3 (Kugelberg-Welander) and type 4 (SMN1 & SMN2 genes)
• Spinocerebellar ataxia (type 8, 17) + Dentatorubral pallidoluysian atrophy - repeat expansion
• Spinocerebellar ataxia (types 1, 2, 3, 6, 7) - CAG repeat expansion
• Steinert myotonic dystrophy - DMPK gene CTG repeat expansion
• Subcortical band heterotopia, lissencephaly
• Thiamine-responsive encephalopathy
• Thrombophilia due to protein C deficiency (PROC gene)
• Thyroid disgenesis (38 genes)
• Thyroid hormone receptor resistance (THRB gene)
• V-maf Musculoaponeurotic fibrosarcoma oncogen homolog B
• Vas deferens, congenital bilateral aplasia of, X-linked (ADGRG2 gene)
• X-chromosome inactivation
• X-linked hydrocephalia / CRASH (corpus callosum hypoplasia, retardation, adducted thumbs, spastic paraplegia, and hydrocephalus) syndrome (L1CAM gene)
• mtDNA depletion syndrome

Related Diseases

• 3-hydroxy-3-methylglutaric aciduria
• 46,XX gonadal dysgenesis
• 46,XX ovotesticular difference of sex development
• 46,XX testicular difference of sex development
• 46,XY complete gonadal dysgenesis
• 46,XY partial gonadal dysgenesis
• APC-related attenuated familial adenomatous polyposis
• ATTRV122I amyloidosis
• ATTRV30M amyloidosis
• Abacavir toxicity
• Achondroplasia
• Adenosine monophosphate deaminase deficiency
• Adult Krabbe disease
• Adult-onset chronic progressive external ophthalmoplegia with mitochondrial myopathy
• Adult-onset distal myopathy due to VCP mutation
• Adult-onset multiple mitochondrial DNA deletion syndrome due to DGUOK deficiency
• Alpers-Huttenlocher syndrome
• Alpha-B crystallin-related late-onset myopathy
• Amish infantile epilepsy syndrome
• Amish nemaline myopathy
• Amyotrophic lateral sclerosis
• Amyotrophic lateral sclerosis type 4
• Andersen-Tawil syndrome
• Argininosuccinic aciduria
• Ataxia-hypogonadism-choroidal dystrophy syndrome
• Athyreosis
• Atrial septal defect, ostium secundum type
• Atrial standstill
• Atypical hemolytic-uremic syndrome with H factor anomaly
• Autosomal dominant Charcot-Marie-Tooth disease type 2M
• Autosomal dominant Emery-Dreifuss muscular dystrophy
• Autosomal dominant adult-onset proximal spinal muscular atrophy
• Autosomal dominant centronuclear myopathy
• Autosomal dominant congenital benign spinal muscular atrophy
• Autosomal dominant dopa-responsive dystonia
• Autosomal dominant hypocalcemia
• Autosomal dominant limb-girdle muscular dystrophy type 1C
• Autosomal dominant progressive external ophthalmoplegia
• Autosomal recessive centronuclear myopathy
• Autosomal recessive dopa-responsive dystonia
• Autosomal recessive lower motor neuron disease with childhood onset
• Autosomal recessive multiple pterygium syndrome
• Autosomal recessive progressive external ophthalmoplegia
• BICD2-related autosomal dominant childhood-onset proximal spinal muscular atrophy
• Barth syndrome
• Bartter syndrome with hypocalcemia
• Becker muscular dystrophy
• Benign familial mesial temporal lobe epilepsy
• Bethlem myopathy
• Bilateral perisylvian polymicrogyria
• Björnstad syndrome
• Brain-lung-thyroid syndrome
• Brugada syndrome
• CHARGE syndrome
• CNTNAP2-related developmental and epileptic encephalopathy
• Cap myopathy
• Carnitine palmitoyl transferase II deficiency, myopathic form
• Carvajal syndrome
• Catecholaminergic polymorphic ventricular tachycardia
• Cerebellar ataxia-hypogonadism syndrome
• Childhood-onset nemaline myopathy
• Chronic visceral acid sphingomyelinase deficiency
• Classic multiminicore myopathy
• Cobblestone lissencephaly without muscular or ocular involvement
• Combined oxidative phosphorylation defect type 8
• Combined pituitary hormone deficiencies, genetic forms
• Complete androgen insensitivity syndrome
• Congenital bilateral absence of vas deferens
• Congenital cataract-hypertrophic cardiomyopathy-mitochondrial myopathy syndrome
• Congenital disorder of glycosylation
• Congenital fiber-type disproportion myopathy
• Congenital generalized hypercontractile muscle stiffness syndrome
• Congenital muscular dystrophy due to LMNA mutation
• Congenital muscular dystrophy with cerebellar involvement
• Congenital muscular dystrophy with intellectual disability
• Congenital muscular dystrophy with intellectual disability and severe epilepsy
• Congenital muscular dystrophy without intellectual disability
• Congenital muscular dystrophy, Fukuyama type
• Congenital muscular dystrophy, Ullrich type
• Congenital myasthenic syndromes with glycosylation defect
• Congenital myopathy with excess of thin filaments
• Congenital myopathy, Paradas type
• Costello syndrome
• Cushing syndrome due to bilateral macronodular adrenocortical disease
• Cystic fibrosis
• DK1-CDG
• DNAJB2-related Charcot-Marie-Tooth disease type 2
• DPAGT1-CDG
• DPM1-CDG
• DPM3-CDG
• DYNC1H1-related autosomal dominant childhood-onset proximal spinal muscular atrophy
• Dentatorubral pallidoluysian atrophy
• Desmin-related myopathy with Mallory body-like inclusions
• Desminopathy
• Dihydropteridine reductase deficiency
• Dilated cardiomyopathy with ataxia
• Distal arthrogryposis type 5D
• Distal hereditary motor neuropathy type 2
• Distal hereditary motor neuropathy type 5
• Distal hereditary motor neuropathy type 7
• Distal hereditary motor neuropathy, Jerash type
• Distal myopathy with anterior tibial onset
• Distal myopathy with posterior leg and anterior hand involvement
• Distal myopathy, Tateyama type
• Distal myopathy, Welander type
• Distal myotilinopathy
• Duchenne muscular dystrophy
• Early repolarization syndrome
• Early-onset myopathy with fatal cardiomyopathy
• Early-onset myopathy-areflexia-respiratory distress-dysphagia syndrome
• Epidermolysis bullosa simplex with muscular dystrophy
• Erythrokeratodermia-cardiomyopathy syndrome
• Estrogen resistance syndrome
• FKRP-related limb-girdle muscular dystrophy R9
• FRAXE intellectual disability
• Fabry disease
• Familial adenomatous polyposis
• Familial atrial fibrillation
• Familial colorectal cancer Type X
• Familial dilated cardiomyopathy with conduction defect due to LMNA mutation
• Familial gestational hyperthyroidism
• Familial hyperthyroidism due to mutations in TSH receptor
• Familial hypocalciuric hypercalcemia type 1
• Familial hypocalciuric hypercalcemia type 2
• Familial hypocalciuric hypercalcemia type 3
• Familial isolated arrhythmogenic ventricular dysplasia, biventricular form
• Familial isolated arrhythmogenic ventricular dysplasia, left dominant form
• Familial isolated arrhythmogenic ventricular dysplasia, right dominant form
• Familial isolated congenital asplenia
• Familial isolated dilated cardiomyopathy
• Familial isolated restrictive cardiomyopathy
• Familial long QT syndrome
• Familial mesial temporal lobe epilepsy with febrile seizures
• Familial peripheral male-limited precocious puberty
• Familial progressive cardiac conduction defect
• Familial short QT syndrome
• Familial sick sinus syndrome
• Familial thoracic aortic aneurysm and aortic dissection
• Familial thyroid dyshormonogenesis
• Farber disease
• Fatal infantile cytochrome C oxidase deficiency
• Fatal infantile hypertonic myofibrillar myopathy
• Fatal infantile lactic acidosis with methylmalonic aciduria
• Female infertility due to oocyte meiotic arrest
• Fetal Gaucher disease
• Fetal akinesia deformation sequence
• Fetal akinesia-cerebral and retinal hemorrhage syndrome
• Fragile X syndrome
• Fragile X-associated tremor/ataxia syndrome
• Friedreich ataxia
• Frontotemporal dementia with motor neuron disease
• GM1 gangliosidosis type 1
• GM1 gangliosidosis type 2
• GM1 gangliosidosis type 3
• GNE myopathy
• GRACILE syndrome
• GTP cyclohydrolase I deficiency
• Gaucher disease type 1
• Gaucher disease type 2
• Gaucher disease type 3
• Generalized juvenile polyposis/juvenile polyposis coli
• Generalized resistance to thyroid hormone
• Genetic recurrent myoglobinuria
• Genetic transient congenital hypothyroidism
• Glycogen storage disease due to LAMP-2 deficiency
• Glycogen storage disease due to acid maltase deficiency
• Glycogen storage disease due to acid maltase deficiency, infantile onset
• Glycogen storage disease due to acid maltase deficiency, late-onset
• Glycogen storage disease due to aldolase A deficiency
• Glycogen storage disease due to glycogen debranching enzyme deficiency
• Glycogen storage disease due to liver and muscle phosphorylase kinase deficiency
• Glycogen storage disease due to muscle beta-enolase deficiency
• Glycogen storage disease due to muscle glycogen phosphorylase deficiency
• Glycogen storage disease due to muscle phosphofructokinase deficiency
• Glycogen storage disease due to muscle phosphorylase kinase deficiency
• Glycogen storage disease due to phosphoglycerate kinase 1 deficiency
• Glycogen storage disease due to phosphoglycerate mutase deficiency
• Hemochromatosis type 1 (NON RARE IN EUROPE)
• Hemoglobin C disease
• Hereditary breast and/or ovarian cancer syndrome
• Hereditary breast cancer
• Hereditary diffuse leukoencephalopathy with axonal spheroids and pigmented glia
• Hereditary fructose intolerance
• Hereditary mixed polyposis syndrome
• Hereditary motor and sensory neuropathy, Okinawa type
• Hereditary myopathy with lactic acidosis due to ISCU deficiency
• Hereditary nonpolyposis colorectal cancer
• Hereditary orotic aciduria
• Hereditary pheochromocytoma-paraganglioma
• Hereditary sensorimotor neuropathy with hyperelastic skin
• Hereditary thrombophilia due to congenital antithrombin deficiency
• Hot water reflex epilepsy
• Huntington disease
• Hurler syndrome
• Hurler-Scheie syndrome
• Hydrocephalus with stenosis of the aqueduct of Sylvius
• Hyperekplexia-epilepsy syndrome
• Hyperkalemic periodic paralysis
• Hypertrophic cardiomyopathy with kidney anomalies due to mitochondrial DNA mutation
• Hypokalemic periodic paralysis
• Hypothyroidism due to TSH receptor mutations
• Hypothyroidism due to deficient transcription factors involved in pituitary development or function
• Idiopathic central precocious puberty
• Idiopathic ventricular fibrillation, non Brugada type
• Incontinentia pigmenti
• Infantile Krabbe disease
• Infantile neuroaxonal dystrophy
• Infantile neurovisceral acid sphingomyelinase deficiency
• Infantile-onset X-linked spinal muscular atrophy
• Infantile-onset ascending hereditary spastic paralysis
• Intermediate nemaline myopathy
• Isolated ATP synthase deficiency
• Isolated Klippel-Feil syndrome
• Isolated complex III deficiency
• Isolated cytochrome C oxidase deficiency
• Isolated follicle stimulating hormone deficiency
• Isolated succinate-CoQ reductase deficiency
• Jervell and Lange-Nielsen syndrome
• Juvenile absence epilepsy
• Juvenile amyotrophic lateral sclerosis
• Juvenile myoclonic epilepsy
• Juvenile primary lateral sclerosis
• KLHL9-related early-onset distal myopathy
• Kallmann syndrome
• Kearns-Sayre syndrome
• Kennedy disease
• Laing early-onset distal myopathy
• Laminin subunit alpha 2-related congenital muscular dystrophy
• Late-infantile/juvenile Krabbe disease
• Late-onset distal myopathy, Markesbery-Griggs type
• Leber hereditary optic neuropathy
• Left ventricular noncompaction
• Leigh syndrome with cardiomyopathy
• Leigh syndrome with leukodystrophy
• Leigh syndrome with nephrotic syndrome
• Lethal multiple pterygium syndrome
• Leydig cell hypoplasia due to LHB deficiency
• Leydig cell hypoplasia due to complete LH resistance
• Leydig cell hypoplasia due to partial LH resistance
• Lipoid proteinosis
• Lissencephaly due to LIS1 mutation
• Lissencephaly due to TUBA1A mutation
• Lissencephaly syndrome, Norman-Roberts type
• Lissencephaly type 1 due to doublecortin gene mutation
• Lynch syndrome
• MELAS
• MERRF
• MUTYH-related attenuated familial adenomatous polyposis
• MYH7-related late-onset scapuloperoneal muscular dystrophy
• Machado-Joseph disease type 3
• Male infertility due to globozoospermia
• Male infertility due to large-headed multiflagellar polyploid spermatozoa
• Male infertility with azoospermia or oligozoospermia due to single gene mutation
• Maligant granulosa cell tumor of the ovary
• Malonic aciduria
• Marinesco-Sjögren syndrome
• Maternally-inherited diabetes and deafness
• Medium chain acyl-CoA dehydrogenase deficiency
• Megaconial congenital muscular dystrophy
• Metachromatic leukodystrophy, adult form
• Metachromatic leukodystrophy, juvenile form
• Metachromatic leukodystrophy, late infantile form
• Methylmalonic aciduria due to transcobalamin receptor defect
• Mevalonic aciduria
• Microcephaly-complex motor and sensory axonal neuropathy syndrome
• Microlissencephaly
• Mitochondrial DNA depletion syndrome, encephalomyopathic form with methylmalonic aciduria
• Mitochondrial DNA depletion syndrome, encephalomyopathic form with renal tubulopathy
• Mitochondrial DNA depletion syndrome, encephalomyopathic form with variable craniofacial anomalies
• Mitochondrial DNA depletion syndrome, hepatocerebral form due to DGUOK deficiency
• Mitochondrial DNA depletion syndrome, hepatocerebrorenal form
• Mitochondrial DNA depletion syndrome, myopathic form
• Mitochondrial DNA-associated Leigh syndrome
• Mitochondrial DNA-related progressive external ophthalmoplegia
• Mitochondrial myopathy with reversible cytochrome C oxidase deficiency
• Mitochondrial neurogastrointestinal encephalomyopathy
• Mitochondrial non-syndromic sensorineural deafness with susceptibility to aminoglycoside exposure
• Mitochondrial trifunctional protein deficiency
• Miyoshi myopathy
• Mucolipidosis type II
• Mucolipidosis type III alpha/beta
• Mucolipidosis type III gamma
• Mucopolysaccharidosis type 2, attenuated form
• Mucopolysaccharidosis type 2, severe form
• Mucopolysaccharidosis type 4A
• Mucopolysaccharidosis type 4B
• Mucopolysaccharidosis type 7
• Multiple acyl-CoA dehydrogenase deficiency, mild type
• Multiple acyl-CoA dehydrogenase deficiency, severe neonatal type
• Multiple congenital anomalies-hypotonia-seizures syndrome
• Multiple mitochondrial dysfunctions syndrome type 1
• Multiple mitochondrial dysfunctions syndrome type 2
• Muscle filaminopathy
• Muscle-eye-brain disease
• Muscular dystrophy, Selcen type
• Myosclerosis
• NARP syndrome
• Navajo neurohepatopathy
• Naxos disease
• Neonatal severe primary hyperparathyroidism
• Netherton syndrome
• Neurogenic scapuloperoneal syndrome, Kaeser type
• Niemann-Pick disease type C, adult neurologic onset
• Niemann-Pick disease type C, juvenile neurologic onset
• Niemann-Pick disease type C, late infantile neurologic onset
• Niemann-Pick disease type C, severe early infantile neurologic onset
• Niemann-Pick disease type C, severe perinatal form
• Noonan syndrome
• Noonan syndrome with multiple lentigines
• Normosmic congenital hypogonadotropic hypogonadism
• Norrie disease
• Obesity due to SIM1 deficiency
• Obesity due to congenital leptin deficiency
• Obesity due to leptin receptor gene deficiency
• Obesity due to melanocortin 4 receptor deficiency
• Obesity due to pro-opiomelanocortin deficiency
• Obesity due to prohormone convertase I deficiency
• Oculopharyngeal muscular dystrophy
• Omenn syndrome
• Ovarian hyperstimulation syndrome
• Oxoglutaric aciduria
• PGM1-CDG
• Paramyotonia congenita of Von Eulenburg
• Partial androgen insensitivity syndrome
• Partial chromosome Y deletion
• Pearson syndrome
• Peripheral neuropathy-myopathy-hoarseness-hearing loss syndrome
• Peripheral resistance to thyroid hormones
• Peroxisomal acyl-CoA oxidase deficiency
• Perry syndrome
• Persistent Müllerian duct syndrome
• Pituitary resistance to thyroid hormone
• Pituitary stalk interruption syndrome
• Polyendocrine-polyneuropathy syndrome
• Polymicrogyria due to TUBB2B mutation
• Pontocerebellar hypoplasia type 1
• Postsynaptic congenital myasthenic syndromes
• Premature Ovarian Failure
• Presynaptic congenital myasthenic syndromes
• Primary dystonia, DYT27 type
• Progressive epilepsy-intellectual disability syndrome, Finnish type
• Progressive scapulohumeroperoneal distal myopathy
• Proximal myopathy with focal depletion of mitochondria
• Proximal spinal muscular atrophy type 1
• Proximal spinal muscular atrophy type 2
• Proximal spinal muscular atrophy type 3
• Proximal spinal muscular atrophy type 4
• Pseudohypoparathyroidism type 1A
• Pseudohypoparathyroidism type 1B
• Pseudohypoparathyroidism type 1C
• Pyruvate dehydrogenase E1-alpha deficiency
• Rare mitochondrial non-syndromic sensorineural deafness
• Recurrent metabolic encephalomyopathic crises-rhabdomyolysis-cardiac arrhythmia-intellectual disability syndrome
• Reducing body myopathy
• Resistance to thyroid hormone due to a mutation in thyroid hormone receptor alpha
• Rippling muscle disease
• Rolandic epilepsy-speech dyspraxia syndrome
• Romano-Ward syndrome
• Sandhoff disease, adult form
• Sandhoff disease, infantile form
• Sandhoff disease, juvenile form
• Sanfilippo syndrome type A
• Sanfilippo syndrome type B
• Sensorineural deafness with dilated cardiomyopathy
• Sensory ataxic neuropathy-dysarthria-ophthalmoparesis syndrome
• Septo-optic dysplasia spectrum
• Severe congenital nemaline myopathy
• Severe hereditary thrombophilia due to congenital protein C deficiency
• Severe neurodegenerative syndrome with lipodystrophy
• Sheldon-Hall syndrome
• Sialidosis type 1
• Sickle cell anemia
• Spinal muscular atrophy with respiratory distress type 2
• Spinal muscular atrophy-progressive myoclonic epilepsy syndrome
• Spinocerebellar ataxia type 1
• Spinocerebellar ataxia type 10
• Spinocerebellar ataxia type 12
• Spinocerebellar ataxia type 17
• Spinocerebellar ataxia type 2
• Spinocerebellar ataxia type 6
• Spinocerebellar ataxia type 7
• Spinocerebellar ataxia type 8
• Steinert myotonic dystrophy
• Subcortical band heterotopia
• Symptomatic form of fragile X syndrome in female carriers
• Symptomatic form of hemochromatosis type 1
• Synaptic congenital myasthenic syndromes
• TMEM70-related mitochondrial encephalo-cardio-myopathy
• Tay-Sachs disease, B variant, adult form
• Tay-Sachs disease, B variant, infantile form
• Tay-Sachs disease, B variant, juvenile form
• Tay-Sachs disease, B1 variant
• Thiamine-responsive encephalopathy
• Thomsen and Becker disease
• Thyroid ectopia
• Thyroid hypoplasia
• Tibial muscular dystrophy
• Typical nemaline myopathy
• Urocanic aciduria
• Very long chain acyl-CoA dehydrogenase deficiency
• Vitamin B12-responsive methylmalonic acidemia type cblB
• Vocal cord and pharyngeal distal myopathy
• Walker-Warburg syndrome
• X-linked Emery-Dreifuss muscular dystrophy
• X-linked adrenal hypoplasia congenita
• X-linked centronuclear myopathy
• X-linked distal spinal muscular atrophy type 3
• X-linked lissencephaly with abnormal genitalia
• X-linked myopathy with postural muscle atrophy
• X-linked myotubular myopathy-abnormal genitalia syndrome
• X-linked scapuloperoneal muscular dystrophy
• Young adult-onset distal hereditary motor neuropathy
• Zebra body myopathy

Related Gene Panels

• Extended Breast Cancer Panel (26 gene) - VUB
  Details

  Gene	% of coding sequence sufficiently covered to detect heterozygous mutations	Copy number variation	Comments
  ATM	100.00	1	No comment
  BARD1	100.00	1	No comment
  BLM	100.00	1	No comment
  BRCA1	100.00	1	No comment
  BRCA2	100.00	1	No comment
  BRIP1	100.00	1	No comment
  CDH1	100.00	1	No comment
  CHEK2	100.00	1	No comment
  EPCAM	100.00	1	No comment
  ABRAXAS1	100.00	1	No comment
  MEN1	100.00	1	No comment
  MLH1	100.00	1	No comment
  MRE11	100.00	1	No comment
  MSH2	100.00	1	No comment
  MSH6	100.00	1	No comment
  MUTYH	100.00	1	No comment
  NBN	100.00	1	No comment
  PALB2	100.00	1	No comment
  PMS2	100.00	1	No comment
  PTEN	100.00	1	No comment
  RAD50	100.00	1	No comment
  RAD51C	100.00	1	No comment
  RAD51D	100.00	1	No comment
  STK11	100.00	1	No comment
  TP53	100.00	1	No comment
  XRCC2	100.00	1	No comment

• Cardiomyopathy, hereditary (208 genes) - VUB
  Details

  Gene	% of coding sequence sufficiently covered to detect heterozygous mutations	Copy number variation	Comments
  ABCC9	100.00	0	No comment
  ACAD9	100.00	0	No comment
  ACADVL	98.89	0	No comment
  ACE	97.11	0	No comment
  ACTA1	100.00	0	No comment
  ACTC1	100.00	0	No comment
  ACTN2	100.00	0	No comment
  ADD3	100.00	0	No comment
  ADRB2	100.00	0	No comment
  AGXT	100.00	0	No comment
  AGTR1	100.00	0	No comment
  AKAP9	100.00	0	No comment
  ALPK3	98.02	0	No comment
  ANKRD1	100.00	0	No comment
  APOA1	99.97	0	No comment
  B2M	100.00	0	No comment
  BAG3	100.00	0	No comment
  BRAF	96.97	0	No comment
  CACNA1C	100.00	0	No comment
  CACNB2	100.00	0	No comment
  CALM1	100.00	0	No comment
  CALM2	100.00	0	No comment
  CALM3	99.99	0	No comment
  CALR3	100.00	0	No comment
  CASQ2	100.00	0	No comment
  CASZ1	95.56	0	No comment
  CAV3	100.00	0	No comment
  CAVIN4	100.00	0	No comment
  CBL	100.00	0	No comment
  CDH2	97.48	0	No comment
  CHRM2	100.00	0	No comment
  CMYA5	99.99	0	No comment
  CNBP	100.00	0	No comment
  COA5	100.00	0	No comment
  COA6	100.00	0	No comment
  COX10	100.00	0	No comment
  COX15	100.00	0	No comment
  CRYAB	100.00	0	No comment
  CSRP3	100.00	0	No comment
  CTF1	30.96	0	No comment
  CTNNA3	100.00	0	No comment
  DES	100.00	0	No comment
  DLG1	100.00	0	No comment
  DMD	100.00	0	No comment
  DNAJC19	100.00	0	No comment
  DNM1L	100.00	0	No comment
  DOLK	100.00	0	No comment
  DSC3	98.44	0	No comment
  DSG2	99.61	0	No comment
  DSP	100.00	0	No comment
  DTNA	100.00	0	No comment
  ECRG4	99.32	0	No comment
  ELAC2	99.99	0	No comment
  ELN	100.00	0	No comment
  EMD	99.84	0	No comment
  EYA4	100.00	0	No comment
  FBXO32	100.00	0	No comment
  CFH	100.00	0	No comment
  FHL2	100.00	0	No comment
  FHOD3	100.00	0	No comment
  FKRP	98.68	0	No comment
  FKTN	100.00	0	No comment
  FLNC	100.00	0	No comment
  FLT1	99.53	0	No comment
  FOXD4	100.00	0	No comment
  FXN	89.89	0	No comment
  GAA	100.00	0	No comment
  GATA4	80.69	0	No comment
  GATA5	97.28	0	No comment
  GATA6	81.11	0	No comment
  GATAD1	88.18	0	No comment
  GLA	100.00	0	No comment
  GTPBP3	100.00	0	No comment
  HACD1	95.46	0	No comment
  HADHB	100.00	0	No comment
  HAND1	100.00	0	No comment
  HCN4	92.35	0	No comment
  HIF1A	100.00	0	No comment
  HRAS	100.00	0	No comment
  HSPB6	99.65	0	No comment
  HSPB7	100.00	0	No comment
  ILK	100.00	0	No comment
  INS-IGF2	99.94	0	No comment
  ISL1	100.00	0	No comment
  JPH2	95.10	0	No comment
  JUP	100.00	0	No comment
  KARS1	100.00	0	No comment
  KAT2B	94.80	0	No comment
  KCND2	100.00	0	No comment
  KCNE1	100.00	0	No comment
  KCNH2	94.44	0	No comment
  KCNJ12	100.00	0	No comment
  KCNQ1	91.07	0	No comment
  KIF20A	100.00	0	No comment
  KLF10	100.00	0	No comment
  LAMA2	100.00	0	No comment
  LAMA4	100.00	0	No comment
  LAMP2	100.00	0	No comment
  LDB3	100.00	0	No comment
  LMNA	99.93	0	No comment
  LRRC10	100.00	0	No comment
  MAP2K1	100.00	0	No comment
  MAP2K2	99.98	0	No comment
  MIB1	100.00	0	No comment
  MIB2	99.31	0	No comment
  MRPL3	100.00	0	No comment
  MRPL44	100.00	0	No comment
  MTO1	95.75	0	No comment
  MYBPC3	100.00	0	No comment
  MYH15	100.00	0	No comment
  MYH6	100.00	0	No comment
  MYH7	100.00	0	No comment
  MYH7B	99.96	0	No comment
  MYL2	100.00	0	No comment
  MYL3	100.00	0	No comment
  MYLK2	100.00	0	No comment
  MYO6	100.00	0	No comment
  MYOM1	100.00	0	No comment
  MYOM3	100.00	0	No comment
  MYOZ1	100.00	0	No comment
  MYOZ2	100.00	0	No comment
  MYPN	100.00	0	No comment
  NAA10	96.03	0	No comment
  NCOA6	100.00	0	No comment
  NDUFAF1	100.00	0	No comment
  NDUFV2	100.00	0	No comment
  NEB	99.99	0	No comment
  NEBL	100.00	0	No comment
  NEXN	100.00	0	No comment
  NKX2-5	100.00	0	No comment
  NPPA	100.00	0	No comment
  NRAP	100.00	0	No comment
  OBSCN	99.26	0	No comment
  OBSL1	98.31	0	No comment
  MED12	100.00	0	No comment
  PDLIM3	100.00	0	No comment
  PKP2	99.87	0	No comment
  PLEC	99.82	0	No comment
  PLEKHM2	99.60	0	No comment
  PLN	100.00	0	No comment
  PPCS	100.00	0	No comment
  PRDM16	100.00	0	No comment
  PRKAG2	95.88	0	No comment
  PRNP	100.00	0	No comment
  PSEN1	100.00	0	No comment
  PSEN2	100.00	0	No comment
  PTEN	98.86	0	No comment
  PTPN11	98.80	0	No comment
  RAF1	100.00	0	No comment
  RANGRF	100.00	0	No comment
  RBM20	99.82	0	No comment
  RIT1	100.00	0	No comment
  RPSA	97.87	0	No comment
  RRAGC	99.99	0	No comment
  RTKN2	100.00	0	No comment
  RYR2	100.00	0	No comment
  S100A1	100.00	0	No comment
  SCN4B	100.00	0	No comment
  SCN5A	100.00	0	No comment
  SDHA	98.02	0	No comment
  SGCB	94.58	0	No comment
  SGCD	100.00	0	No comment
  SGCG	100.00	0	No comment
  SGK1	99.99	0	No comment
  SHOC2	100.00	0	No comment
  SLC12A1	100.00	0	No comment
  SLC22A5	100.00	0	No comment
  SLC25A3	100.00	0	No comment
  SLC25A4	99.09	0	No comment
  SMC1A	100.00	0	No comment
  SNTA1	84.25	0	No comment
  SOD2	100.00	0	No comment
  SOS1	100.00	0	No comment
  SYNE1	100.00	0	No comment
  SYNE2	100.00	0	No comment
  SYNM	92.59	0	No comment
  TAF1A	100.00	0	No comment
  TAX1BP3	100.00	0	No comment
  WWTR1	99.81	0	No comment
  TBX20	100.00	0	No comment
  TBX5	100.00	0	No comment
  TCAP	100.00	0	No comment
  TCF21	100.00	0	No comment
  TGFB3	100.00	0	No comment
  TJP1	99.14	0	No comment
  TK2	95.90	0	No comment
  TMED4	100.00	0	No comment
  TMEM43	100.00	0	No comment
  TMEM87B	99.37	0	No comment
  TMPO	99.87	0	No comment
  TNNI3	100.00	0	No comment
  TNNI3K	100.00	0	No comment
  TNNT2	100.00	0	No comment
  TNNT3	100.00	0	No comment
  TPM1	99.98	0	No comment
  TRIM54	99.66	0	No comment
  TRIM55	100.00	0	No comment
  TRIM63	100.00	0	No comment
  TRPM4	100.00	0	No comment
  TSFM	93.22	0	No comment
  TTN	100.00	0	No comment
  TTR	100.00	0	No comment
  TXNRD2	96.90	0	No comment
  VCL	100.00	0	No comment
  VEGFA	98.73	0	No comment
  YWHAE	98.69	0	No comment
  ZBTB17	100.00	0	No comment

• Colon carcinoma (hereditary/familial) (gene panel) (12 genes) - VUB
  Details

  Gene	% of coding sequence sufficiently covered to detect heterozygous mutations	Copy number variation	Comments
  APC	100.00	1
  MLH1	100.00	1
  MSH2	100.00	1
  MSH6	100.00	1
  MUTYH	100.00	1
  PMS2	100.00	1
  POLD1	100.00	1
  POLE	100.00	1
  PTEN	100.00	1
  STK11	100.00	1
  BRIP1	100.00	1
  PMS1	100.00	1

• Congenital malformation gene panel - VUB
  Details

  Gene	% of coding sequence sufficiently covered to detect heterozygous mutations	Copy number variation	Comments
  AAAS	100.00	0	No comment
  ABAT	100.00	0	No comment
  ABCC6	100.00	0	No comment
  ABCD1	99.93	0	No comment
  ABCD3	99.97	0	No comment
  ABL1	100.00	0	No comment
  ACAN	98.89	0	No comment
  ACO2	100.00	0	No comment
  ACTA1	100.00	0	No comment
  ACTB	100.00	0	No comment
  ACTG1	100.00	0	No comment
  ADAMTS10	99.88	0	No comment
  ADAMTS17	89.95	0	No comment
  ADAMTSL2	100.00	0	No comment
  ADAR	100.00	0	No comment
  ADGRG1	100.00	0	No comment
  ADGRG6	100.00	0	No comment
  ADSL	100.00	0	No comment
  AHI1	100.00	0	No comment
  AIMP1	100.00	0	No comment
  AIPL1	100.00	0	No comment
  AIRE	99.88	0	No comment
  AKR1C2	99.98	0	No comment
  AKT1	100.00	0	No comment
  AKT3	100.00	0	No comment
  ALDH1A3	99.83	0	No comment
  ALMS1	100.00	0	No comment
  ALPL	100.00	0	No comment
  ALX1	100.00	0	No comment
  ALX3	91.36	0	No comment
  ALX4	99.70	0	No comment
  AMER1	100.00	0	No comment
  AMT	99.94	0	No comment
  ANKRD11	100.00	0	No comment
  ANOS1	95.04	0	No comment
  ANTXR2	100.00	0	No comment
  AP4B1	100.00	0	No comment
  AR	99.29	0	No comment
  ARFGEF2	100.00	0	No comment
  ARHGAP31	100.00	0	No comment
  ARID1A	94.64	0	No comment
  ARID1B	92.99	0	No comment
  ARL13B	100.00	0	No comment
  ARL6	100.00	0	No comment
  ARVCF	100.00	0	No comment
  ARX	78.98	0	No comment
  ASNS	100.00	0	No comment
  ASPA	100.00	0	No comment
  ASPM	100.00	0	No comment
  ASS1	99.87	0	No comment
  ASXL1	99.91	0	No comment
  ATL1	100.00	0	No comment
  ATM	100.00	0	No comment
  ATP6V0A2	100.00	0	No comment
  ATP7A	100.00	0	No comment
  ATP8A2	99.93	0	No comment
  ANTXR1	100.00	0	No comment
  ATRX	100.00	0	No comment
  ATXN10	99.48	0	No comment
  B3GALNT2	85.88	0	No comment
  B3GALT6	56.12	0	No comment
  B3GAT3	95.56	0	No comment
  B3GLCT	94.89	0	No comment
  B4GALT1	100.00	0	No comment
  B4GAT1	100.00	0	No comment
  B9D1	100.00	0	No comment
  B9D2	100.00	0	No comment
  BBIP1	100.00	0	No comment
  BBS1	100.00	0	No comment
  BBS10	100.00	0	No comment
  BBS12	100.00	0	No comment
  BBS2	100.00	0	No comment
  BBS4	100.00	0	No comment
  BBS5	100.00	0	No comment
  BBS7	100.00	0	No comment
  BBS9	100.00	0	No comment
  BCOR	100.00	0	No comment
  BDNF	100.00	0	No comment
  BIN1	100.00	0	No comment
  BMP2	100.00	0	No comment
  BMP4	100.00	0	No comment
  BMPER	100.00	0	No comment
  BMPR1B	100.00	0	No comment
  BRAF	96.97	0	No comment
  BRIP1	100.00	0	No comment
  BSND	100.00	0	No comment
  BUB1	100.00	0	No comment
  BUB1B	100.00	0	No comment
  BUB3	100.00	0	No comment
  C12ORF57	100.00	0	No comment
  CACNA1A	98.78	0	No comment
  CASK	100.00	0	No comment
  CBL	100.00	0	No comment
  CC2D2A	98.16	0	No comment
  CCBE1	99.97	0	No comment
  CCDC28B	100.00	0	No comment
  CCM2	99.98	0	No comment
  CCNQ	84.41	0	No comment
  CD96	100.00	0	No comment
  CDC6	100.00	0	No comment
  CDH1	98.08	0	No comment
  CDKL5	100.00	0	No comment
  CDKN1C	62.25	0	No comment
  CDON	100.00	0	No comment
  CDT1	87.95	0	No comment
  CENPF	100.00	0	No comment
  CEP164	100.00	0	No comment
  CEP290	99.99	0	No comment
  CEP41	100.00	0	No comment
  CEP57	100.00	0	No comment
  CFTR	99.91	0	No comment
  CHAT	100.00	0	No comment
  CHD7	100.00	0	No comment
  CHMP1A	100.00	0	No comment
  CHN1	99.56	0	No comment
  CHRNA1	100.00	0	No comment
  CHRNB1	100.00	0	No comment
  CHRND	100.00	0	No comment
  CHRNE	100.00	0	No comment
  CHRNG	100.00	0	No comment
  CHST14	98.57	0	No comment
  CHST3	100.00	0	No comment
  CHSY1	91.67	0	No comment
  CHUK	99.76	0	No comment
  CKAP2L	100.00	0	No comment
  CNTN1	100.00	0	No comment
  COG4	100.00	0	No comment
  COL11A1	100.00	0	No comment
  COL11A2	99.14	0	No comment
  COL18A1	97.80	0	No comment
  COL1A1	100.00	0	No comment
  COL1A2	99.93	0	No comment
  COL2A1	100.00	0	No comment
  COL3A1	100.00	0	No comment
  COL4A1	98.71	0	No comment
  COL5A1	98.16	0	No comment
  COL5A2	100.00	0	No comment
  COL6A1	100.00	0	No comment
  COL6A2	100.00	0	No comment
  COL6A3	100.00	0	No comment
  COL7A1	100.00	0	No comment
  COL9A1	100.00	0	No comment
  COL9A2	100.00	0	No comment
  COLEC11	100.00	0	No comment
  COMT	100.00	0	No comment
  COX7B	99.88	0	No comment
  CPLANE1	100.00	0	No comment
  CPT2	98.71	0	No comment
  CRB1	100.00	0	No comment
  CREBBP	100.00	0	No comment
  CRH	100.00	0	No comment
  CRLF1	89.81	0	No comment
  CRPPA	95.75	0	No comment
  CRX	100.00	0	No comment
  CSPP1	100.00	0	No comment
  CTCF	100.00	0	No comment
  CTNS	100.00	0	No comment
  CTSA	100.00	0	No comment
  CUL7	99.99	0	No comment
  CXCR4	100.00	0	No comment
  CYP11B1	100.00	0	No comment
  CYP17A1	100.00	0	No comment
  CYP19A1	100.00	0	No comment
  CYP21A2	100.00	0	No comment
  CYP2U1	93.04	0	No comment
  DARS1	100.00	0	No comment
  DCHS1	99.64	0	No comment
  DCX	100.00	0	No comment
  DDHD2	100.00	0	No comment
  DDX59	100.00	0	No comment
  DHCR24	99.96	0	No comment
  DHCR7	100.00	0	No comment
  DHH	99.75	0	No comment
  DHODH	100.00	0	No comment
  DIS3L2	100.00	0	No comment
  DKC1	100.00	0	No comment
  DLL3	78.42	0	No comment
  DLX5	100.00	0	No comment
  DMD	100.00	0	No comment
  DMPK	99.97	0	No comment
  DNM2	99.95	0	No comment
  DOCK6	99.12	0	No comment
  DOK7	98.77	0	No comment
  DPYD	100.00	0	No comment
  DSP	100.00	0	No comment
  DUSP6	100.00	0	No comment
  DYM	100.00	0	No comment
  DYNC1H1	100.00	0	No comment
  DYNC2H1	100.00	0	No comment
  EARS2	100.00	0	No comment
  GLB1	100.00	0	No comment
  ECEL1	95.92	0	No comment
  EFNB1	100.00	0	No comment
  EFTUD2	100.00	0	No comment
  EGR2	100.00	0	No comment
  EHMT1	98.85	0	No comment
  EIF2AK3	95.52	0	No comment
  EIF4A3	100.00	0	No comment
  EMD	99.84	0	No comment
  EMG1	100.00	0	No comment
  EMX2	100.00	0	No comment
  EOGT	100.00	0	No comment
  EP300	100.00	0	No comment
  EPG5	100.00	0	No comment
  EPHX1	100.00	0	No comment
  ERBB3	100.00	0	No comment
  ERCC1	100.00	0	No comment
  ERCC2	100.00	0	No comment
  ERCC4	100.00	0	No comment
  ERCC5	100.00	0	No comment
  ERCC6	100.00	0	No comment
  ERLIN2	100.00	0	No comment
  ESCO2	100.00	0	No comment
  EVC	94.45	0	No comment
  EVC2	99.55	0	No comment
  EYA1	100.00	0	No comment
  EZH2	100.00	0	No comment
  FA2H	92.06	0	No comment
  FAM111A	100.00	0	No comment
  FAM20C	92.71	0	No comment
  FANCA	99.70	0	No comment
  FANCB	100.00	0	No comment
  FANCC	100.00	0	No comment
  FANCD2	100.00	0	No comment
  FANCE	91.17	0	No comment
  FANCF	100.00	0	No comment
  FANCG	100.00	0	No comment
  FANCI	100.00	0	No comment
  FANCL	100.00	0	No comment
  FANCM	100.00	0	No comment
  FAT4	100.00	0	No comment
  FBN1	100.00	0	No comment
  FBN2	100.00	0	No comment
  FBXL4	100.00	0	No comment
  FGD1	99.39	0	No comment
  FGF10	100.00	0	No comment
  FGF17	100.00	0	No comment
  FGF8	94.82	0	No comment
  FGF9	100.00	0	No comment
  FGFR1	100.00	0	No comment
  FGFR2	100.00	0	No comment
  FGFR3	99.26	0	No comment
  FH	100.00	0	No comment
  FIG4	100.00	0	No comment
  FKBP14	100.00	0	No comment
  FKRP	98.68	0	No comment
  FKTN	100.00	0	No comment
  FLNA	100.00	0	No comment
  FLNB	100.00	0	No comment
  FLRT3	100.00	0	No comment
  FLT4	98.20	0	No comment
  FLVCR2	100.00	0	No comment
  FOXC1	62.57	0	No comment
  FOXC2	72.63	0	No comment
  FOXE1	60.48	0	No comment
  FOXG1	85.88	0	No comment
  FRAS1	100.00	0	No comment
  FREM1	100.00	0	No comment
  FREM2	100.00	0	No comment
  FTO	100.00	0	No comment
  FUZ	100.00	0	No comment
  G6PC3	100.00	0	No comment
  GAA	100.00	0	No comment
  GATA1	100.00	0	No comment
  GATA4	80.69	0	No comment
  GATA6	81.11	0	No comment
  GBA1	100.00	0	No comment
  GBA2	100.00	0	No comment
  GBE1	100.00	0	No comment
  GCSH	76.04	0	No comment
  GDF1	58.25	0	No comment
  GDF3	100.00	0	No comment
  GDF5	100.00	0	No comment
  GDF6	93.56	0	No comment
  GFAP	100.00	0	No comment
  GFM1	100.00	0	No comment
  GJA1	100.00	0	No comment
  GJB2	98.23	0	No comment
  GJC2	81.91	0	No comment
  GLDC	96.53	0	No comment
  GLE1	100.00	0	No comment
  GLI2	95.11	0	No comment
  GLI3	100.00	0	No comment
  GLUL	100.00	0	No comment
  GMPPB	100.00	0	No comment
  GNAI3	100.00	0	No comment
  GNAO1	100.00	0	No comment
  GNPTAB	100.00	0	No comment
  GNPTG	94.69	0	No comment
  GP1BB	25.16	0	No comment
  GPC3	100.00	0	No comment
  GPC6	100.00	0	No comment
  GPI	100.00	0	No comment
  GPSM2	100.00	0	No comment
  GRHL3	100.00	0	No comment
  GRIP1	100.00	0	No comment
  GRM1	100.00	0	No comment
  GUCY2D	99.13	0	No comment
  GUSB	100.00	0	No comment
  H19	100.00	0	No comment
  HADHA	100.00	0	No comment
  HADHB	100.00	0	No comment
  HCCS	100.00	0	No comment
  HDAC8	100.00	0	No comment
  HES7	99.67	0	No comment
  HESX1	100.00	0	No comment
  HIBCH	100.00	0	No comment
  HIRA	99.90	0	No comment
  HOXA11	99.40	0	No comment
  HOXA13	73.35	0	No comment
  HOXA2	99.99	0	No comment
  HOXD13	80.52	0	No comment
  HPGD	99.99	0	No comment
  HRAS	100.00	0	No comment
  HS6ST1	98.52	0	No comment
  HSD17B3	100.00	0	No comment
  HSD17B4	100.00	0	No comment
  HSPG2	99.43	0	No comment
  HYAL1	100.00	0	No comment
  HYLS1	100.00	0	No comment
  IBA57	87.89	0	No comment
  CILK1	100.00	0	No comment
  IDS	100.00	0	No comment
  IDUA	88.67	0	No comment
  IER3IP1	99.93	0	No comment
  IFIH1	100.00	0	No comment
  IFT172	100.00	0	No comment
  IFT27	100.00	0	No comment
  IFT80	100.00	0	No comment
  IFT88	99.71	0	No comment
  IGBP1	100.00	0	No comment
  IGHMBP2	100.00	0	No comment
  IHH	99.88	0	No comment
  IKBKG	99.74	0	No comment
  IL10	100.00	0	No comment
  IL17RD	98.31	0	No comment
  IMPDH1	97.72	0	No comment
  INPP5E	99.54	0	No comment
  INSR	97.31	0	No comment
  IQCB1	100.00	0	No comment
  IRF6	100.00	0	No comment
  ITGA6	100.00	0	No comment
  ITGA8	99.96	0	No comment
  ITGB4	98.41	0	No comment
  ITPR1	100.00	0	No comment
  JAG1	99.66	0	No comment
  JAM3	100.00	0	No comment
  JUP	100.00	0	No comment
  KANSL1	100.00	0	No comment
  KAT6B	100.00	0	No comment
  KCNA1	100.00	0	No comment
  KCNJ13	100.00	0	No comment
  KCNJ2	100.00	0	No comment
  KCNK9	100.00	0	No comment
  KCNQ1OT1	0.55	0	No comment
  KCNQ2	99.98	0	No comment
  KCNT1	99.74	0	No comment
  KCTD1	92.53	0	No comment
  KCTD7	97.35	0	No comment
  KDM6A	100.00	0	No comment
  KIF14	100.00	0	No comment
  KIF1A	99.90	0	No comment
  KIFBP	100.00	0	No comment
  KIF2A	98.88	0	No comment
  KIF5C	100.00	0	No comment
  KIF7	96.94	0	No comment
  KISS1R	94.58	0	No comment
  KMT2D	100.00	0	No comment
  KRAS	100.00	0	No comment
  L1CAM	100.00	0	No comment
  L2HGDH	99.96	0	No comment
  LAMA2	100.00	0	No comment
  LAMB1	100.00	0	No comment
  LAMC3	97.51	0	No comment
  LARGE1	100.00	0	No comment
  LBR	100.00	0	No comment
  LCA5	100.00	0	No comment
  LEMD3	100.00	0	No comment
  LFNG	82.55	0	No comment
  LHB	97.18	0	No comment
  LHX3	94.36	0	No comment
  LHX4	100.00	0	No comment
  LIFR	100.00	0	No comment
  LMBR1	100.00	0	No comment
  LMNA	99.93	0	No comment
  LMNB1	97.46	0	No comment
  LMX1B	99.99	0	No comment
  LRAT	100.00	0	No comment
  LRP2	99.96	0	No comment
  CORIN	98.90	0	No comment
  LZTFL1	100.00	0	No comment
  MAP2K1	100.00	0	No comment
  MAP2K2	99.98	0	No comment
  MAP3K1	92.79	0	No comment
  MASP1	100.00	0	No comment
  MBTPS2	100.00	0	No comment
  MCOLN1	97.27	0	No comment
  MCPH1	100.00	0	No comment
  MED12	99.96	0	No comment
  MEF2C	100.00	0	No comment
  MEGF10	100.00	0	No comment
  MEOX1	100.00	0	No comment
  MESP2	100.00	0	No comment
  MFRP	100.00	0	No comment
  MGP	100.00	0	No comment
  MID1	100.00	0	No comment
  MIPOL1	100.00	0	No comment
  MKKS	100.00	0	No comment
  MKS1	100.00	0	No comment
  MLH1	100.00	0	No comment
  MOCS1	99.95	0	No comment
  MOCS2	100.00	0	No comment
  MPL	100.00	0	No comment
  MPZ	100.00	0	No comment
  MRPS16	100.00	0	No comment
  MRPS22	100.00	0	No comment
  MSH2	100.00	0	No comment
  MSH6	100.00	0	No comment
  MSX1	97.41	0	No comment
  MSX2	100.00	0	No comment
  MTM1	100.00	0	No comment
  MUSK	100.00	0	No comment
  MVK	100.00	0	No comment
  MYBPC1	100.00	0	No comment
  MYH2	100.00	0	No comment
  MYH3	100.00	0	No comment
  MYH8	100.00	0	No comment
  MYOD1	98.47	0	No comment
  NAA10	96.03	0	No comment
  NBN	100.00	0	No comment
  NDE1	100.00	0	No comment
  NEB	99.99	0	No comment
  NECTIN1	100.00	0	No comment
  NEK1	100.00	0	No comment
  NEXMIF	100.00	0	No comment
  NF1	99.95	0	No comment
  NFIX	97.15	0	No comment
  NIN	100.00	0	No comment
  NIPBL	99.98	0	No comment
  NKX2-5	100.00	0	No comment
  NMNAT1	100.00	0	No comment
  NODAL	99.99	0	No comment
  NOG	100.00	0	No comment
  NOTCH2	99.76	0	No comment
  NPC1	98.40	0	No comment
  NPC2	100.00	0	No comment
  NPHP1	100.00	0	No comment
  NPHP3	99.87	0	No comment
  NPRL2	100.00	0	No comment
  NR0B1	100.00	0	No comment
  NR5A1	100.00	0	No comment
  NRAS	100.00	0	No comment
  NSD1	100.00	0	No comment
  NSDHL	100.00	0	No comment
  NSMF	95.23	0	No comment
  NT5C2	100.00	0	No comment
  OBSL1	98.31	0	No comment
  OCLN	100.00	0	No comment
  OCRL	99.77	0	No comment
  OFD1	99.88	0	No comment
  OPHN1	100.00	0	No comment
  SLC25A15	100.00	0	No comment
  ORC4	100.00	0	No comment
  ORC6	100.00	0	No comment
  OTX2	100.00	0	No comment
  PAFAH1B1	100.00	0	No comment
  PALB2	100.00	0	No comment
  PAX2	99.80	0	No comment
  PAX3	100.00	0	No comment
  PAX6	100.00	0	No comment
  PCNT	100.00	0	No comment
  PDE4D	98.77	0	No comment
  PDE6D	100.00	0	No comment
  PDGFB	99.77	0	No comment
  PDGFRB	100.00	0	No comment
  PDHA1	98.17	0	No comment
  PDHB	100.00	0	No comment
  PDHX	99.87	0	No comment
  PDYN	100.00	0	No comment
  PEX1	100.00	0	No comment
  PEX10	88.47	0	No comment
  PEX11B	100.00	0	No comment
  PEX12	100.00	0	No comment
  PEX13	100.00	0	No comment
  PEX14	100.00	0	No comment
  PEX16	100.00	0	No comment
  PEX19	100.00	0	No comment
  PEX2	100.00	0	No comment
  PEX26	100.00	0	No comment
  PEX3	100.00	0	No comment
  PEX5	100.00	0	No comment
  PEX6	98.56	0	No comment
  PEX7	91.13	0	No comment
  PFKM	100.00	0	No comment
  PGM1	100.00	0	No comment
  PHF6	100.00	0	No comment
  PHF8	100.00	0	No comment
  PIGA	100.00	0	No comment
  PIGL	100.00	0	No comment
  PIGV	100.00	0	No comment
  PIK3CA	100.00	0	No comment
  PIK3R2	89.19	0	No comment
  PIP5K1C	95.60	0	No comment
  PITX1	98.27	0	No comment
  PKHD1	100.00	0	No comment
  PLCB4	100.00	0	No comment
  PLEC	99.82	0	No comment
  PLK4	100.00	0	No comment
  PLOD1	99.91	0	No comment
  PLOD3	100.00	0	No comment
  PLP1	100.00	0	No comment
  PMM2	100.00	0	No comment
  PMP22	100.00	0	No comment
  PMS2	99.97	0	No comment
  PNKP	100.00	0	No comment
  POLR1C	100.00	0	No comment
  POLR1D	100.00	0	No comment
  POLR3A	100.00	0	No comment
  POMGNT1	100.00	0	No comment
  POMGNT2	100.00	0	No comment
  POMK	100.00	0	No comment
  POMT1	100.00	0	No comment
  POMT2	99.90	0	No comment
  PORCN	100.00	0	No comment
  POU1F1	100.00	0	No comment
  PQBP1	100.00	0	No comment
  PRDM5	100.00	0	No comment
  PRG4	100.00	0	No comment
  PRKAR1A	100.00	0	No comment
  PROK2	98.51	0	No comment
  PROKR2	100.00	0	No comment
  PROP1	100.00	0	No comment
  PRRX1	100.00	0	No comment
  PRSS56	98.00	0	No comment
  PRX	100.00	0	No comment
  PSAP	100.00	0	No comment
  PSAT1	100.00	0	No comment
  PTCH1	98.48	0	No comment
  PTCH2	100.00	0	No comment
  PTDSS1	100.00	0	No comment
  PTEN	98.86	0	No comment
  PTH1R	99.01	0	No comment
  PTPN11	98.80	0	No comment
  PYCR1	100.00	0	No comment
  RAB18	100.00	0	No comment
  RAB23	100.00	0	No comment
  RAB3GAP1	100.00	0	No comment
  RAB3GAP2	100.00	0	No comment
  RAB40AL	100.00	0	No comment
  RAD21	100.00	0	No comment
  RAD51C	100.00	0	No comment
  RAF1	100.00	0	No comment
  RAI1	96.06	0	No comment
  RAPSN	100.00	0	No comment
  PRKRA	90.07	0	No comment
  RB1	99.04	0	No comment
  RBM10	100.00	0	No comment
  RBM8A	100.00	0	No comment
  RD3	100.00	0	No comment
  RDH12	100.00	0	No comment
  RECQL4	96.37	0	No comment
  RELN	99.96	0	No comment
  RET	98.13	0	No comment
  RIPK4	100.00	0	No comment
  RIT1	100.00	0	No comment
  RMND1	100.00	0	No comment
  RMRP	100.00	0	No comment
  RNASEH2A	100.00	0	No comment
  RNASEH2B	95.67	0	No comment
  RNASEH2C	100.00	0	No comment
  RNU4ATAC	100.00	0	No comment
  ROR2	98.67	0	No comment
  RPE65	100.00	0	No comment
  RPGRIP1	100.00	0	No comment
  RPGRIP1L	96.45	0	No comment
  RPL11	100.00	0	No comment
  RPL15	86.16	0	No comment
  RPL26	100.00	0	No comment
  RPL35A	100.00	0	No comment
  RPL5	99.37	0	No comment
  RPS10	100.00	0	No comment
  RPS17	98.70	0	No comment
  RPS19	100.00	0	No comment
  RPS24	100.00	0	No comment
  RPS26	100.00	0	No comment
  RPS6KA3	98.71	0	No comment
  RPS7	92.83	0	No comment
  RTTN	100.00	0	No comment
  RUNX2	98.51	0	No comment
  RXYLT1	99.84	0	No comment
  RYR1	98.38	0	No comment
  SACS	99.97	0	No comment
  SALL1	100.00	0	No comment
  SALL4	100.00	0	No comment
  SAMHD1	100.00	0	No comment
  SATB2	100.00	0	No comment
  SC5D	100.00	0	No comment
  SCARF2	86.46	0	No comment
  SDCCAG8	100.00	0	No comment
  SEC23A	100.00	0	No comment
  SELENON	84.04	0	No comment
  SEMA3A	100.00	0	No comment
  SEMA3E	100.00	0	No comment
  SEPSECS	99.97	0	No comment
  SEPTIN9	100.00	0	No comment
  SETBP1	99.99	0	No comment
  SF3B4	100.00	0	No comment
  SH3PXD2B	99.68	0	No comment
  SHANK3	83.99	0	No comment
  SHH	92.83	0	No comment
  SHOC2	100.00	0	No comment
  SIX1	100.00	0	No comment
  SIX3	99.59	0	No comment
  SIX5	88.67	0	No comment
  SIX6	100.00	0	No comment
  HHAT	90.28	0	No comment
  SLC12A1	100.00	0	No comment
  SLC12A6	100.00	0	No comment
  SLC20A2	100.00	0	No comment
  SLC25A19	100.00	0	No comment
  SLC26A2	99.96	0	No comment
  SLC2A10	98.97	0	No comment
  SLC35A2	100.00	0	No comment
  SLC35A3	100.00	0	No comment
  SLC35D1	99.99	0	No comment
  SLC6A8	98.78	0	No comment
  SLC9A6	99.96	0	No comment
  SLX4	100.00	0	No comment
  SMAD3	100.00	0	No comment
  SMAD4	100.00	0	No comment
  SMARCA4	100.00	0	No comment
  SMARCB1	100.00	0	No comment
  SMARCE1	100.00	0	No comment
  SMC1A	100.00	0	No comment
  SMC3	100.00	0	No comment
  SMOC1	99.36	0	No comment
  SNAP29	100.00	0	No comment
  SNIP1	100.00	0	No comment
  SOS1	100.00	0	No comment
  SOX10	96.79	0	No comment
  SOX2	98.05	0	No comment
  SOX3	85.62	0	No comment
  SOX9	97.88	0	No comment
  SPATA7	100.00	0	No comment
  SPECC1L	100.00	0	No comment
  SPG11	100.00	0	No comment
  SPRED1	100.00	0	No comment
  SPRY4	100.00	0	No comment
  SPTAN1	100.00	0	No comment
  SRD5A2	100.00	0	No comment
  SRD5A3	99.42	0	No comment
  SRY	39.13	0	No comment
  STAC3	100.00	0	No comment
  STAMBP	100.00	0	No comment
  STAT3	100.00	0	No comment
  STS	100.00	0	No comment
  STXBP1	100.00	0	No comment
  SUFU	100.00	0	No comment
  SUMO1	99.91	0	No comment
  SYNE1	100.00	0	No comment
  TACR3	100.00	0	No comment
  TAF2	100.00	0	No comment
  WWTR1	99.81	0	No comment
  TBC1D20	93.59	0	No comment
  TBX1	77.39	0	No comment
  TBX15	100.00	0	No comment
  TBX22	100.00	0	No comment
  TBX3	99.88	0	No comment
  TBX4	94.32	0	No comment
  TBX5	100.00	0	No comment
  TBX6	100.00	0	No comment
  TBXT	100.00	0	No comment
  TCF4	100.00	0	No comment
  TCOF1	99.99	0	No comment
  TCTN1	93.78	0	No comment
  TCTN2	100.00	0	No comment
  TCTN3	100.00	0	No comment
  TECPR2	100.00	0	No comment
  TFAP2A	100.00	0	No comment
  TGFB3	100.00	0	No comment
  TGFBR1	92.91	0	No comment
  TGFBR2	100.00	0	No comment
  TGIF1	100.00	0	No comment
  TMCO1	100.00	0	No comment
  TMEM138	100.00	0	No comment
  TMEM216	100.00	0	No comment
  TMEM231	100.00	0	No comment
  TMEM237	99.97	0	No comment
  TMEM67	100.00	0	No comment
  TMEM70	100.00	0	No comment
  TNNI2	100.00	0	No comment
  TNNT3	100.00	0	No comment
  TNXB	100.00	0	No comment
  TP63	100.00	0	No comment
  TPM2	100.00	0	No comment
  TRAPPC9	99.98	0	No comment
  TREM2	100.00	0	No comment
  TREX1	100.00	0	No comment
  TRIM32	100.00	0	No comment
  TRIP11	100.00	0	No comment
  TRPV4	100.00	0	No comment
  TSC1	100.00	0	No comment
  TSC2	100.00	0	No comment
  TSEN34	100.00	0	No comment
  TSEN54	94.23	0	No comment
  TSPYL1	100.00	0	No comment
  TTC8	100.00	0	No comment
  TUBA1A	100.00	0	No comment
  TUBA8	100.00	0	No comment
  TUBB2B	100.00	0	No comment
  TUBB3	98.24	0	No comment
  TUBGCP6	100.00	0	No comment
  TULP1	100.00	0	No comment
  TWIST1	70.93	0	No comment
  TYR	100.00	0	No comment
  TYROBP	100.00	0	No comment
  UBA1	100.00	0	No comment
  UBB	100.00	0	No comment
  UBE3A	100.00	0	No comment
  UBE3B	100.00	0	No comment
  UFD1	100.00	0	No comment
  UPF3B	100.00	0	No comment
  UPK3A	99.39	0	No comment
  UTRN	100.00	0	No comment
  VANGL1	100.00	0	No comment
  VANGL2	100.00	0	No comment
  VAX1	89.49	0	No comment
  VIPAS39	100.00	0	No comment
  VPS13B	99.25	0	No comment
  VPS33B	100.00	0	No comment
  VSX2	100.00	0	No comment
  VTI1A	100.00	0	No comment
  WASHC5	100.00	0	No comment
  WDPCP	100.00	0	No comment
  WDR11	100.00	0	No comment
  WDR19	100.00	0	No comment
  DYNC2I2	93.01	0	No comment
  WDR35	100.00	0	No comment
  DYNC2I1	99.86	0	No comment
  WDR62	100.00	0	No comment
  WDR81	99.97	0	No comment
  WNT10B	98.99	0	No comment
  WNT3	100.00	0	No comment
  WNT4	92.22	0	No comment
  WNT5A	99.97	0	No comment
  WNT7A	100.00	0	No comment
  WT1	96.46	0	No comment
  WWOX	100.00	0	No comment
  ZBTB18	100.00	0	No comment
  ZDHHC9	100.00	0	No comment
  ZEB2	100.00	0	No comment
  ZFPM2	99.96	0	No comment
  ZFYVE26	100.00	0	No comment
  ZIC1	100.00	0	No comment
  ZIC2	80.54	0	No comment
  ZMPSTE24	100.00	0	No comment
  ZNF423	100.00	0	No comment
  ZNF469	99.70	0	No comment

• Epilepsy gene panel - VUB
  Details

  Gene	% of coding sequence sufficiently covered to detect heterozygous mutations	Copy number variation	Comments
  AAAS	100.00	0	No comment
  AARS1	100.00	0	No comment
  AASS	100.00	0	No comment
  ABAT	100.00	0	No comment
  ABCB1	100.00	0	No comment
  ABCC8	99.81	0	No comment
  ABCD1	99.93	0	No comment
  ACADM	99.94	0	No comment
  ACADS	99.48	0	No comment
  ACADSB	100.00	0	No comment
  ACO2	100.00	0	No comment
  ACOX1	100.00	0	No comment
  ACSF3	100.00	0	No comment
  ACTB	100.00	0	No comment
  ACTG1	100.00	0	No comment
  ACVR1	100.00	0	No comment
  ACY1	100.00	0	No comment
  ADAR	100.00	0	No comment
  ADGRG1	100.00	0	No comment
  ADGRV1	100.00	0	No comment
  ADK	100.00	0	No comment
  ADRA2B	100.00	0	No comment
  ADSL	100.00	0	No comment
  AFG3L2	95.05	0	No comment
  AGA	100.00	0	No comment
  AGTR2	100.00	0	No comment
  AHI1	100.00	0	No comment
  AIFM1	100.00	0	No comment
  AIMP1	100.00	0	No comment
  AKT2	100.00	0	No comment
  AKT3	100.00	0	No comment
  ALDH18A1	100.00	0	No comment
  ALDH3A2	99.95	0	No comment
  ALDH4A1	97.15	0	No comment
  ALDH5A1	83.59	0	No comment
  ALDH7A1	100.00	0	No comment
  ALG1	92.65	0	No comment
  ALG11	100.00	0	No comment
  ALG12	100.00	0	No comment
  ALG13	99.96	0	No comment
  ALG2	99.94	0	No comment
  ALG3	99.22	0	No comment
  ALG6	100.00	0	No comment
  ALG8	95.91	0	No comment
  ALG9	98.65	0	No comment
  ALMS1	100.00	0	No comment
  AMACR	99.83	0	No comment
  AMER1	100.00	0	No comment
  AMT	99.94	0	No comment
  ANKH	100.00	0	No comment
  ANKRD11	100.00	0	No comment
  AP3B2	99.73	0	No comment
  AP4E1	100.00	0	No comment
  APTX	100.00	0	No comment
  AR	99.29	0	No comment
  ARFGEF2	100.00	0	No comment
  ARG1	100.00	0	No comment
  ARHGEF15	100.00	0	No comment
  ARHGEF9	100.00	0	No comment
  ARID1A	94.64	0	No comment
  ARID1B	92.99	0	No comment
  ARL13B	100.00	0	No comment
  ARSA	100.00	0	No comment
  SLURP1	85.73	0	No comment
  ARX	78.98	0	No comment
  ASAH1	99.94	0	No comment
  ASL	100.00	0	No comment
  ASNS	100.00	0	No comment
  ASPA	100.00	0	No comment
  ASPM	100.00	0	No comment
  ASS1	99.87	0	No comment
  ASXL1	99.91	0	No comment
  ATIC	99.06	0	No comment
  ATN1	100.00	0	No comment
  ATP1A2	100.00	0	No comment
  ATP1A3	100.00	0	No comment
  ATP2A2	100.00	0	No comment
  ATP5F1A	100.00	0	No comment
  ATP6AP2	99.95	0	No comment
  ATP6V0A2	100.00	0	No comment
  ATP7A	100.00	0	No comment
  ATPAF2	100.00	0	No comment
  ANTXR1	100.00	0	No comment
  ATRX	100.00	0	No comment
  ATXN10	99.48	0	No comment
  AUH	96.44	0	No comment
  AVPR2	100.00	0	No comment
  B3GALNT2	85.88	0	No comment
  B3GNT2	100.00	0	No comment
  B4GALT1	100.00	0	No comment
  B4GAT1	100.00	0	No comment
  BCAP31	100.00	0	No comment
  BCKDHA	100.00	0	No comment
  BCKDHB	100.00	0	No comment
  BCKDK	100.00	0	No comment
  BCS1L	100.00	0	No comment
  BOLA3	84.43	0	No comment
  BRAF	96.97	0	No comment
  BRAT1	100.00	0	No comment
  BRD2	95.47	0	No comment
  BTD	100.00	0	No comment
  BUB1B	100.00	0	No comment
  C12ORF57	100.00	0	No comment
  MTRFR	100.00	0	No comment
  CACNA1A	98.78	0	No comment
  CACNA1D	100.00	0	No comment
  CACNA1H	97.35	0	No comment
  CACNA2D1	100.00	0	No comment
  CACNA2D2	94.87	0	No comment
  CACNB4	100.00	0	No comment
  CAMK2B	99.93	0	No comment
  CASK	100.00	0	No comment
  CASQ2	100.00	0	No comment
  CASR	100.00	0	No comment
  CBL	100.00	0	No comment
  CBS	100.00	0	No comment
  CC2D2A	98.16	0	No comment
  CCBE1	99.97	0	No comment
  CCDC88C	99.92	0	No comment
  CCL2	100.00	0	No comment
  CCM2	99.98	0	No comment
  CDK5RAP2	100.00	0	No comment
  CDKL5	100.00	0	No comment
  CDON	100.00	0	No comment
  CELSR1	93.72	0	No comment
  CENPJ	100.00	0	No comment
  CEP135	100.00	0	No comment
  CEP152	100.00	0	No comment
  CEP164	100.00	0	No comment
  CEP290	99.99	0	No comment
  CEP41	100.00	0	No comment
  CEP63	95.17	0	No comment
  CERS1	77.89	0	No comment
  CHD2	100.00	0	No comment
  CHD8	100.00	0	No comment
  CHKB	99.69	0	No comment
  CHMP1A	100.00	0	No comment
  CHRNA2	100.00	0	No comment
  CHRNA4	97.18	0	No comment
  CHRNA7	97.88	0	No comment
  CHRNB2	99.92	0	No comment
  CLCN1	100.00	0	No comment
  CLCN2	100.00	0	No comment
  CLCN4	100.00	0	No comment
  CLCNKA	100.00	0	No comment
  CLCNKB	100.00	0	No comment
  CLDN16	100.00	0	No comment
  CLIC2	100.00	0	No comment
  CLN3	100.00	0	No comment
  CLN5	99.94	0	No comment
  CLN6	90.35	0	No comment
  CLN8	100.00	0	No comment
  CLPP	100.00	0	No comment
  CNTN2	100.00	0	No comment
  CNTNAP2	99.85	0	No comment
  COA5	100.00	0	No comment
  COG1	99.24	0	No comment
  COG4	100.00	0	No comment
  COG5	100.00	0	No comment
  COG6	100.00	0	No comment
  COG7	100.00	0	No comment
  COG8	100.00	0	No comment
  COL18A1	97.80	0	No comment
  COL4A1	98.71	0	No comment
  COL4A2	100.00	0	No comment
  COQ2	97.15	0	No comment
  COQ6	100.00	0	No comment
  COQ8A	100.00	0	No comment
  COQ9	99.99	0	No comment
  COX10	100.00	0	No comment
  COX14	100.00	0	No comment
  COX15	100.00	0	No comment
  COX20	98.72	0	No comment
  COX6B1	100.00	0	No comment
  CYP2A6	100.00	0	No comment
  CPLANE1	100.00	0	No comment
  CYP21A2	100.00	0	No comment
  CPT2	98.71	0	No comment
  CRH	100.00	0	No comment
  CRLF1	89.81	0	No comment
  CRPPA	95.75	0	No comment
  CSNK1G1	100.00	0	No comment
  CSPP1	100.00	0	No comment
  CSTB	99.03	0	No comment
  CTC1	100.00	0	No comment
  CTSA	100.00	0	No comment
  CTSD	99.45	0	No comment
  CTSF	87.32	0	No comment
  CUL4B	100.00	0	No comment
  CYP27A1	99.68	0	No comment
  CYP27B1	99.96	0	No comment
  D2HGDH	100.00	0	No comment
  DBT	100.00	0	No comment
  DCHS1	99.64	0	No comment
  DCX	100.00	0	No comment
  DDC	100.00	0	No comment
  DDOST	100.00	0	No comment
  DEPDC5	99.62	0	No comment
  DHCR24	99.96	0	No comment
  DHCR7	100.00	0	No comment
  DHDDS	100.00	0	No comment
  DHFR	99.48	0	No comment
  DLD	100.00	0	No comment
  DLGAP2	100.00	0	No comment
  DMD	100.00	0	No comment
  DNAJC5	100.00	0	No comment
  DNAJC6	100.00	0	No comment
  DNM1	94.44	0	No comment
  DOCK6	99.12	0	No comment
  DOCK7	99.17	0	No comment
  DOLK	100.00	0	No comment
  DPAGT1	100.00	0	No comment
  DPM1	100.00	0	No comment
  DPM2	100.00	0	No comment
  DPM3	100.00	0	No comment
  DPYD	100.00	0	No comment
  DPYS	99.91	0	No comment
  DYNC1H1	100.00	0	No comment
  DYRK1A	100.00	0	No comment
  EARS2	100.00	0	No comment
  ECM1	100.00	0	No comment
  EEF1A2	99.76	0	No comment
  EFHC1	100.00	0	No comment
  EFHC2	100.00	0	No comment
  EFTUD2	100.00	0	No comment
  EHMT1	98.85	0	No comment
  EIF2B1	100.00	0	No comment
  EIF2B2	100.00	0	No comment
  EIF2B3	100.00	0	No comment
  EIF2B4	100.00	0	No comment
  EIF2B5	100.00	0	No comment
  ELOVL4	100.00	0	No comment
  ELP1	100.00	0	No comment
  ELP4	92.12	0	No comment
  EMX2	100.00	0	No comment
  EOMES	98.56	0	No comment
  EPG5	100.00	0	No comment
  EPM2A	85.54	0	No comment
  ERLIN2	100.00	0	No comment
  ERMARD	100.00	0	No comment
  ETFA	100.00	0	No comment
  ETFB	100.00	0	No comment
  ETFDH	100.00	0	No comment
  ETHE1	99.88	0	No comment
  EXOC6B	100.00	0	No comment
  EXOSC3	100.00	0	No comment
  EZH2	100.00	0	No comment
  FA2H	92.06	0	No comment
  FADD	92.08	0	No comment
  HYCC1	100.00	0	No comment
  FARS2	100.00	0	No comment
  FASTKD2	100.00	0	No comment
  FAT4	100.00	0	No comment
  FBXL4	100.00	0	No comment
  FGD1	99.39	0	No comment
  FGF8	94.82	0	No comment
  FGFR3	99.26	0	No comment
  FH	100.00	0	No comment
  FKRP	98.68	0	No comment
  FKTN	100.00	0	No comment
  FLNA	100.00	0	No comment
  FLVCR2	100.00	0	No comment
  FMR1	100.00	0	No comment
  FOLR1	100.00	0	No comment
  FOXG1	85.88	0	No comment
  FOXH1	100.00	0	No comment
  FTO	100.00	0	No comment
  FUCA1	100.00	0	No comment
  GABBR2	95.78	0	No comment
  GABRA1	100.00	0	No comment
  GABRB2	100.00	0	No comment
  GABRB3	99.79	0	No comment
  GABRD	94.04	0	No comment
  GABRG2	92.03	0	No comment
  GAL	100.00	0	No comment
  GALC	98.44	0	No comment
  GALNS	96.18	0	No comment
  GAMT	98.60	0	No comment
  GATA3	100.00	0	No comment
  GATA6	81.11	0	No comment
  GATM	99.26	0	No comment
  GBA1	100.00	0	No comment
  GCDH	100.00	0	No comment
  GCH1	96.30	0	No comment
  GCK	100.00	0	No comment
  GCM2	100.00	0	No comment
  GCSH	76.04	0	No comment
  GFAP	100.00	0	No comment
  GFM1	100.00	0	No comment
  GJC2	81.91	0	No comment
  GLA	100.00	0	No comment
  GLB1	100.00	0	No comment
  GLDC	96.53	0	No comment
  GLI2	95.11	0	No comment
  GLI3	100.00	0	No comment
  GLRA1	100.00	0	No comment
  GLRB	100.00	0	No comment
  GLUD1	99.45	0	No comment
  GLUL	100.00	0	No comment
  GLYCTK	100.00	0	No comment
  GM2A	100.00	0	No comment
  GMPPB	100.00	0	No comment
  GNAO1	100.00	0	No comment
  GNE	100.00	0	No comment
  GNPTAB	100.00	0	No comment
  GNPTG	94.69	0	No comment
  GNS	100.00	0	No comment
  GOSR2	100.00	0	No comment
  GPC3	100.00	0	No comment
  GPHN	100.00	0	No comment
  GRIA3	100.00	0	No comment
  GRIN1	99.97	0	No comment
  GRIN2A	100.00	0	No comment
  GRIN2B	100.00	0	No comment
  GRINA	100.00	0	No comment
  GRN	100.00	0	No comment
  GTPBP3	100.00	0	No comment
  GUSB	100.00	0	No comment
  HADH	100.00	0	No comment
  HAX1	100.00	0	No comment
  HCCS	100.00	0	No comment
  HCFC1	100.00	0	No comment
  HCN1	95.88	0	No comment
  HCN4	92.35	0	No comment
  HDAC4	100.00	0	No comment
  HDAC8	100.00	0	No comment
  HEPACAM	96.82	0	No comment
  HERC2	99.62	0	No comment
  HESX1	100.00	0	No comment
  HEXA	100.00	0	No comment
  HEXB	99.82	0	No comment
  HGSNAT	93.95	0	No comment
  HLCS	100.00	0	No comment
  HMBS	100.00	0	No comment
  HNRNPU	99.54	0	No comment
  HPD	100.00	0	No comment
  HRAS	100.00	0	No comment
  HSD17B10	100.00	0	No comment
  HSD17B4	100.00	0	No comment
  HSPD1	99.53	0	No comment
  HYAL1	100.00	0	No comment
  IDH2	92.01	0	No comment
  IDS	100.00	0	No comment
  IDUA	88.67	0	No comment
  IER3IP1	99.93	0	No comment
  INPP5E	99.54	0	No comment
  INS	100.00	0	No comment
  INSR	97.31	0	No comment
  IQSEC2	99.73	0	No comment
  IVD	100.00	0	No comment
  JAM3	100.00	0	No comment
  JRK	100.00	0	No comment
  KANSL1	100.00	0	No comment
  KAT6A	100.00	0	No comment
  KAT6B	100.00	0	No comment
  KCNA1	100.00	0	No comment
  KCNA2	100.00	0	No comment
  KCNAB1	100.00	0	No comment
  KCNB1	99.89	0	No comment
  KCNC1	100.00	0	No comment
  KCND2	100.00	0	No comment
  KCNH1	100.00	0	No comment
  KCNH2	94.44	0	No comment
  KCNH5	100.00	0	No comment
  KCNJ1	100.00	0	No comment
  KCNJ10	100.00	0	No comment
  KCNJ11	100.00	0	No comment
  KCNK18	100.00	0	No comment
  KCNMA1	99.94	0	No comment
  KCNQ2	99.98	0	No comment
  KCNQ3	96.44	0	No comment
  KCNT1	99.74	0	No comment
  KCNV2	100.00	0	No comment
  KCTD7	97.35	0	No comment
  KDM5C	100.00	0	No comment
  KDM6A	100.00	0	No comment
  KIF11	100.00	0	No comment
  KIFBP	100.00	0	No comment
  KIF2A	98.88	0	No comment
  KIF4A	100.00	0	No comment
  KIF5C	100.00	0	No comment
  KIF7	96.94	0	No comment
  KMT2B	97.12	0	No comment
  KMT2D	100.00	0	No comment
  KNL1	98.62	0	No comment
  KPTN	100.00	0	No comment
  KRAS	100.00	0	No comment
  KRIT1	100.00	0	No comment
  L1CAM	100.00	0	No comment
  L2HGDH	99.96	0	No comment
  LAMA2	100.00	0	No comment
  LAMB1	100.00	0	No comment
  LAMC3	97.51	0	No comment
  LARGE1	100.00	0	No comment
  LBR	100.00	0	No comment
  LGI1	100.00	0	No comment
  LIAS	100.00	0	No comment
  LIG1	100.00	0	No comment
  LIG4	100.00	0	No comment
  LMBRD1	100.00	0	No comment
  LRFN1	100.00	0	No comment
  LRFN2	100.00	0	No comment
  LRFN3	99.97	0	No comment
  LRFN4	100.00	0	No comment
  LRFN5	100.00	0	No comment
  LRP2	99.96	0	No comment
  LRPPRC	99.14	0	No comment
  MAGI2	92.73	0	No comment
  MAGT1	100.00	0	No comment
  MAN1B1	99.99	0	No comment
  MAP2K1	100.00	0	No comment
  MAP2K2	99.98	0	No comment
  MAPK10	100.00	0	No comment
  MBD5	100.00	0	No comment
  MBTPS2	100.00	0	No comment
  MCCC1	100.00	0	No comment
  MCOLN1	97.27	0	No comment
  MCPH1	100.00	0	No comment
  ME2	100.00	0	No comment
  MECP2	98.28	0	No comment
  MED12	100.00	0	No comment
  MED17	100.00	0	No comment
  MEF2C	100.00	0	No comment
  MFSD8	100.00	0	No comment
  MGAT2	100.00	0	No comment
  MGME1	100.00	0	No comment
  MLC1	100.00	0	No comment
  MLYCD	85.50	0	No comment
  MMACHC	100.00	0	No comment
  MMADHC	100.00	0	No comment
  MMUT	100.00	0	No comment
  MOCS1	99.95	0	No comment
  MOCS2	100.00	0	No comment
  MOGS	98.73	0	No comment
  MPDU1	100.00	0	No comment
  MPDZ	100.00	0	No comment
  MPI	100.00	0	No comment
  MSX2	100.00	0	No comment
  MTHFR	100.00	0	No comment
  MTOR	100.00	0	No comment
  MTR	100.00	0	No comment
  MTRR	100.00	0	No comment
  MYO5A	99.60	0	No comment
  NAA10	96.03	0	No comment
  NAGA	100.00	0	No comment
  NAGLU	87.38	0	No comment
  NALCN	100.00	0	No comment
  NDE1	100.00	0	No comment
  NDP	100.00	0	No comment
  NDUFA1	100.00	0	No comment
  NDUFA10	95.87	0	No comment
  NDUFA11	98.06	0	No comment
  NDUFA12	100.00	0	No comment
  NDUFA2	100.00	0	No comment
  NDUFA9	100.00	0	No comment
  NDUFAF1	100.00	0	No comment
  NDUFAF2	100.00	0	No comment
  NDUFAF3	100.00	0	No comment
  NDUFAF4	100.00	0	No comment
  NDUFAF5	100.00	0	No comment
  NDUFAF6	93.73	0	No comment
  NDUFB3	100.00	0	No comment
  NDUFS1	100.00	0	No comment
  NDUFS2	100.00	0	No comment
  NDUFS3	100.00	0	No comment
  NDUFS4	100.00	0	No comment
  NDUFS6	100.00	0	No comment
  NDUFS7	99.49	0	No comment
  NDUFS8	100.00	0	No comment
  NDUFV1	100.00	0	No comment
  NDUFV2	100.00	0	No comment
  NECAP1	100.00	0	No comment
  NEDD4L	100.00	0	No comment
  NEU1	100.00	0	No comment
  NEXMIF	100.00	0	No comment
  NF1	99.95	0	No comment
  NFIX	97.15	0	No comment
  NGLY1	99.98	0	No comment
  NHEJ1	100.00	0	No comment
  NHLRC1	99.73	0	No comment
  NIN	100.00	0	No comment
  NIPA2	100.00	0	No comment
  NIPBL	99.98	0	No comment
  NLGN4X	100.00	0	No comment
  NLGN4Y	55.32	0	No comment
  NODAL	99.99	0	No comment
  NOTCH3	92.99	0	No comment
  NPC1	98.40	0	No comment
  NPC2	100.00	0	No comment
  NPHP1	100.00	0	No comment
  NPRL2	100.00	0	No comment
  NPRL3	100.00	0	No comment
  NRAS	100.00	0	No comment
  NRXN1	98.52	0	No comment
  NSD1	100.00	0	No comment
  NSDHL	100.00	0	No comment
  NTRK2	100.00	0	No comment
  NUBPL	100.00	0	No comment
  NUS1	100.00	0	No comment
  OCLN	100.00	0	No comment
  OCRL	99.77	0	No comment
  OFD1	99.88	0	No comment
  OPHN1	100.00	0	No comment
  OTC	100.00	0	No comment
  OTX2	100.00	0	No comment
  PAFAH1B1	100.00	0	No comment
  PAH	99.94	0	No comment
  PAK3	100.00	0	No comment
  PANK2	98.60	0	No comment
  PAX6	100.00	0	No comment
  PODXL	100.00	0	No comment
  PCBD1	92.74	0	No comment
  PCDH19	99.91	0	No comment
  PCNT	100.00	0	No comment
  PDCD10	100.00	0	No comment
  PDE6D	100.00	0	No comment
  PDGFB	99.77	0	No comment
  PDGFRB	100.00	0	No comment
  PDHA1	98.17	0	No comment
  PDHX	99.87	0	No comment
  PDP1	100.00	0	No comment
  PDSS1	86.24	0	No comment
  PDSS2	100.00	0	No comment
  PET100	100.00	0	No comment
  PEX1	100.00	0	No comment
  PEX10	88.47	0	No comment
  PEX11B	100.00	0	No comment
  PEX12	100.00	0	No comment
  PEX13	100.00	0	No comment
  PEX14	100.00	0	No comment
  PEX16	100.00	0	No comment
  PEX19	100.00	0	No comment
  PEX2	100.00	0	No comment
  PEX26	100.00	0	No comment
  PEX3	100.00	0	No comment
  PEX5	100.00	0	No comment
  PEX6	98.56	0	No comment
  PEX7	91.13	0	No comment
  PGAP2	100.00	0	No comment
  PGAP3	99.90	0	No comment
  PGK1	100.00	0	No comment
  PGM1	100.00	0	No comment
  PHF6	100.00	0	No comment
  PHGDH	100.00	0	No comment
  PIGA	100.00	0	No comment
  PIGL	100.00	0	No comment
  PIGM	100.00	0	No comment
  PIGN	100.00	0	No comment
  PIGO	100.00	0	No comment
  PIGQ	100.00	0	No comment
  PIGV	100.00	0	No comment
  PIK3AP1	99.56	0	No comment
  PIK3CA	100.00	0	No comment
  PIK3R2	89.19	0	No comment
  PLA2G6	100.00	0	No comment
  PLCB1	100.00	0	No comment
  PLP1	100.00	0	No comment
  PMM2	100.00	0	No comment
  PNKP	100.00	0	No comment
  PNPO	100.00	0	No comment
  POLG	100.00	0	No comment
  POLG2	100.00	0	No comment
  POLR3A	100.00	0	No comment
  POLR3B	100.00	0	No comment
  POMC	100.00	0	No comment
  POMGNT1	100.00	0	No comment
  POMGNT2	100.00	0	No comment
  POMK	100.00	0	No comment
  POMT1	100.00	0	No comment
  POMT2	99.90	0	No comment
  PPFIA1	100.00	0	No comment
  PPFIA2	100.00	0	No comment
  PPFIA3	98.81	0	No comment
  PPFIA4	100.00	0	No comment
  PPFIBP1	100.00	0	No comment
  PPFIBP2	100.00	0	No comment
  PPP2R2C	100.00	0	No comment
  PPT1	100.00	0	No comment
  PQBP1	100.00	0	No comment
  PRF1	100.00	0	No comment
  PRICKLE1	100.00	0	No comment
  PRICKLE2	100.00	0	No comment
  PRODH	86.43	0	No comment
  PRRT2	100.00	0	No comment
  PSAP	100.00	0	No comment
  PSAT1	100.00	0	No comment
  PTCH1	98.48	0	No comment
  PTEN	98.86	0	No comment
  PTH	100.00	0	No comment
  PTPN11	98.80	0	No comment
  PTS	100.00	0	No comment
  PURA	85.32	0	No comment
  QARS1	100.00	0	No comment
  QDPR	99.04	0	No comment
  RAB18	100.00	0	No comment
  RAB27A	100.00	0	No comment
  RAB39B	100.00	0	No comment
  RAB3GAP1	100.00	0	No comment
  RAB3GAP2	100.00	0	No comment
  RAD21	100.00	0	No comment
  RAF1	100.00	0	No comment
  RAI1	96.06	0	No comment
  RANGAP1	100.00	0	No comment
  RARS2	100.00	0	No comment
  RBBP8	100.00	0	No comment
  RBFOX1	99.94	0	No comment
  RBFOX3	99.96	0	No comment
  RELN	99.96	0	No comment
  RFT1	100.00	0	No comment
  RGMA	99.10	0	No comment
  RHOBTB2	100.00	0	No comment
  RNASEH2A	100.00	0	No comment
  RNASEH2B	95.67	0	No comment
  RNASEH2C	100.00	0	No comment
  RNASET2	99.98	0	No comment
  ROGDI	91.80	0	No comment
  RORB	100.00	0	No comment
  RPGRIP1L	96.45	0	No comment
  RPIA	100.00	0	No comment
  RRM2B	100.00	0	No comment
  RTTN	100.00	0	No comment
  RUBCN	97.68	0	No comment
  RXYLT1	99.84	0	No comment
  RYR3	100.00	0	No comment
  SAMHD1	100.00	0	No comment
  SATB2	100.00	0	No comment
  SCARB2	100.00	0	No comment
  SCN10A	100.00	0	No comment
  SCN1A	100.00	0	No comment
  SCN1B	94.12	0	No comment
  SCN2A	100.00	0	No comment
  SCN2B	100.00	0	No comment
  SCN3A	100.00	0	No comment
  SCN3B	100.00	0	No comment
  SCN4A	100.00	0	No comment
  SCN4B	100.00	0	No comment
  SCN5A	100.00	0	No comment
  SCN8A	100.00	0	No comment
  SCN9A	100.00	0	No comment
  SCO2	100.00	0	No comment
  SDHA	98.02	0	No comment
  SDHAF1	96.03	0	No comment
  SEPSECS	99.97	0	No comment
  SERPINI1	100.00	0	No comment
  SETBP1	99.99	0	No comment
  SGSH	99.99	0	No comment
  SHANK3	83.99	0	No comment
  SHH	92.83	0	No comment
  SHOC2	100.00	0	No comment
  SHROOM4	100.00	0	No comment
  SIK1	100.00	0	No comment
  SIX3	99.59	0	No comment
  SLC12A5	100.00	0	No comment
  SLC12A6	100.00	0	No comment
  SLC13A5	100.00	0	No comment
  SLC16A1	100.00	0	No comment
  SLC16A2	100.00	0	No comment
  SLC17A5	100.00	0	No comment
  SLC19A3	100.00	0	No comment
  SLC1A3	100.00	0	No comment
  SLC20A2	100.00	0	No comment
  SLC25A1	93.77	0	No comment
  SLC25A12	100.00	0	No comment
  SLC25A15	100.00	0	No comment
  SLC25A19	100.00	0	No comment
  SLC25A20	100.00	0	No comment
  SLC25A22	100.00	0	No comment
  SLC2A1	99.94	0	No comment
  SLC2A2	100.00	0	No comment
  SLC35A1	100.00	0	No comment
  SLC35A2	100.00	0	No comment
  SLC35C1	100.00	0	No comment
  SLC3A2	88.97	0	No comment
  SLC46A1	99.95	0	No comment
  SLC4A10	100.00	0	No comment
  SLC6A1	100.00	0	No comment
  SLC6A5	100.00	0	No comment
  SLC6A8	98.78	0	No comment
  SLC9A6	99.96	0	No comment
  SLC9A9	100.00	0	No comment
  SMARCA1	99.59	0	No comment
  SMARCA2	98.07	0	No comment
  SMARCA4	100.00	0	No comment
  SMARCB1	100.00	0	No comment
  SMARCE1	100.00	0	No comment
  SMC1A	100.00	0	No comment
  SMC3	100.00	0	No comment
  SMPD1	100.00	0	No comment
  SNAP25	100.00	0	No comment
  SNAP29	100.00	0	No comment
  SNIP1	100.00	0	No comment
  SOS1	100.00	0	No comment
  SOX10	96.79	0	No comment
  SOX2	98.05	0	No comment
  SPRED1	100.00	0	No comment
  SPTAN1	100.00	0	No comment
  SRD5A3	99.42	0	No comment
  SRGAP3	100.00	0	No comment
  SRPX2	100.00	0	No comment
  ST3GAL3	100.00	0	No comment
  ST3GAL5	92.64	0	No comment
  STAMBP	100.00	0	No comment
  STIL	100.00	0	No comment
  STRADA	100.00	0	No comment
  STX1B	100.00	0	No comment
  STXBP1	100.00	0	No comment
  SUCLA2	100.00	0	No comment
  SUCLG1	95.74	0	No comment
  SUMF1	100.00	0	No comment
  SUOX	100.00	0	No comment
  SURF1	87.74	0	No comment
  SYN1	95.92	0	No comment
  SYNGAP1	100.00	0	No comment
  SYNJ1	99.96	0	No comment
  SYP	99.27	0	No comment
  SZT2	100.00	0	No comment
  TACO1	99.90	0	No comment
  TBC1D20	93.59	0	No comment
  TBC1D24	100.00	0	No comment
  TBCE	100.00	0	No comment
  TBX1	77.39	0	No comment
  TCF4	100.00	0	No comment
  TCTN1	93.78	0	No comment
  TCTN2	100.00	0	No comment
  TCTN3	100.00	0	No comment
  TGIF1	100.00	0	No comment
  TK2	95.90	0	No comment
  TMEM138	100.00	0	No comment
  TMEM165	89.91	0	No comment
  TMEM216	100.00	0	No comment
  TMEM231	100.00	0	No comment
  TMEM237	99.97	0	No comment
  TMEM67	100.00	0	No comment
  TMEM70	100.00	0	No comment
  TNK2	100.00	0	No comment
  ACD	100.00	0	No comment
  TREM2	100.00	0	No comment
  TREX1	100.00	0	No comment
  TRPM6	100.00	0	No comment
  TSC1	100.00	0	No comment
  TSC2	100.00	0	No comment
  TSEN2	100.00	0	No comment
  TSEN34	100.00	0	No comment
  TSEN54	94.23	0	No comment
  TTC21B	100.00	0	No comment
  TTR	100.00	0	No comment
  TUBA1A	100.00	0	No comment
  TUBA8	100.00	0	No comment
  TUBB2A	99.99	0	No comment
  TUBB2B	100.00	0	No comment
  TUBB3	98.24	0	No comment
  TUBB4A	99.85	0	No comment
  TUBG1	100.00	0	No comment
  TUSC3	100.00	0	No comment
  TWNK	100.00	0	No comment
  TYROBP	100.00	0	No comment
  UBE2A	99.62	0	No comment
  UBE3A	100.00	0	No comment
  UBR5	100.00	0	No comment
  UPB1	100.00	0	No comment
  VANGL1	100.00	0	No comment
  VARS2	100.00	0	No comment
  VDAC1	99.21	0	No comment
  VLDLR	96.53	0	No comment
  VPS13A	100.00	0	No comment
  VPS13B	99.25	0	No comment
  VPS53	100.00	0	No comment
  VRK1	100.00	0	No comment
  WDR45	100.00	0	No comment
  WDR62	100.00	0	No comment
  WFS1	100.00	0	No comment
  WWOX	100.00	0	No comment
  XK	100.00	0	No comment
  ZBTB18	100.00	0	No comment
  ZC4H2	100.00	0	No comment
  ZDHHC9	100.00	0	No comment
  ZEB2	100.00	0	No comment
  ZIC2	80.54	0	No comment
  ZNF335	100.00	0	No comment

• Hypogonadotropic hypogonadism (33 genes) - VUB
  Details

  Gene	% of coding sequence sufficiently covered to detect heterozygous mutations	Copy number variation	Comments
  ANOS1	95.04	0	No comment
  CHD7	100.00	0	No comment
  DMXL2	100.00	0	No comment
  DUSP6	100.00	0	No comment
  FEZF1	100.00	0	No comment
  FGF17	100.00	0	No comment
  FGF8	94.82	0	No comment
  FGFR1	100.00	0	No comment
  FLRT3	100.00	0	No comment
  FSHB	100.00	0	No comment
  GNRH1	100.00	0	No comment
  GNRHR	100.00	0	No comment
  HESX1	100.00	0	No comment
  HS6ST1	98.52	0	No comment
  IL17RD	98.31	0	No comment
  KISS1	100.00	0	No comment
  KISS1R	94.58	0	No comment
  LHB	97.18	0	No comment
  MKRN3	100.00	0	No comment
  NR0B1	100.00	0	No comment
  NSMF	95.23	0	No comment
  OTUD4	100.00	0	No comment
  PCSK1	100.00	0	No comment
  PNPLA6	100.00	0	No comment
  PROK2	98.51	0	No comment
  PROKR2	100.00	0	No comment
  RNF216	100.00	0	No comment
  SEMA3A	100.00	0	No comment
  SEMA7A	93.22	0	No comment
  SOX10	96.79	0	No comment
  TAC3	100.00	0	No comment
  TACR3	100.00	0	No comment
  WDR11	100.00	0	No comment

• LHON (3 genes) - VUB
  Details

  Gene	% of coding sequence sufficiently covered to detect heterozygous mutations	Copy number variation	Comments
  MT-ND1
  MT-ND4
  MT-ND6

• Leigh syndrome (mtDNA / 37 genes) - VUB
  Details

  Gene	% of coding sequence sufficiently covered to detect heterozygous mutations	Copy number variation	Comments
  MT-ND1	0.00	0	No known value for % of coding sequence sufficiently covered to detect heterozygous mutations
  MT-ND2	0.00	0	No known value for % of coding sequence sufficiently covered to detect heterozygous mutations
  MT-ND3	0.00	0	No known value for % of coding sequence sufficiently covered to detect heterozygous mutations
  MT-ND4L	0.00	0	No known value for % of coding sequence sufficiently covered to detect heterozygous mutations
  MT-ND4	0.00	0	No known value for % of coding sequence sufficiently covered to detect heterozygous mutations
  MT-ND5	0.00	0	No known value for % of coding sequence sufficiently covered to detect heterozygous mutations
  MT-ND6	0.00	0	No known value for % of coding sequence sufficiently covered to detect heterozygous mutations
  MT-CO1	0.00	0	No known value for % of coding sequence sufficiently covered to detect heterozygous mutations
  MT-CO2	0.00	0	No known value for % of coding sequence sufficiently covered to detect heterozygous mutations
  MT-CO3	0.00	0	No known value for % of coding sequence sufficiently covered to detect heterozygous mutations
  MT-ATP8	0.00	0	No known value for % of coding sequence sufficiently covered to detect heterozygous mutations
  MT-ATP6	0.00	0	No known value for % of coding sequence sufficiently covered to detect heterozygous mutations
  MT-CYB	0.00	0	No known value for % of coding sequence sufficiently covered to detect heterozygous mutations
  MT-TF	0.00	0	No known value for % of coding sequence sufficiently covered to detect heterozygous mutations
  MT-TQ	0.00	0	No known value for % of coding sequence sufficiently covered to detect heterozygous mutations
  MT-TW	0.00	0	No known value for % of coding sequence sufficiently covered to detect heterozygous mutations
  MT-TL1	0.00	0	No known value for % of coding sequence sufficiently covered to detect heterozygous mutations
  MT-TH	0.00	0	No known value for % of coding sequence sufficiently covered to detect heterozygous mutations
  MT-TS1	0.00	0	No known value for % of coding sequence sufficiently covered to detect heterozygous mutations
  MT-TS2	0.00	0	No known value for % of coding sequence sufficiently covered to detect heterozygous mutations
  MT-TP	0.00	0	No known value for % of coding sequence sufficiently covered to detect heterozygous mutations
  MT-TK	0.00	0	No known value for % of coding sequence sufficiently covered to detect heterozygous mutations
  MT-TT	0.00	0	No known value for % of coding sequence sufficiently covered to detect heterozygous mutations
  MT-TL2	0.00	0	No known value for % of coding sequence sufficiently covered to detect heterozygous mutations
  MT-TV	0.00	0	No known value for % of coding sequence sufficiently covered to detect heterozygous mutations
  MT-TE	0.00	0	No known value for % of coding sequence sufficiently covered to detect heterozygous mutations
  MT-TI	0.00	0	No known value for % of coding sequence sufficiently covered to detect heterozygous mutations
  MT-TM	0.00	0	No known value for % of coding sequence sufficiently covered to detect heterozygous mutations
  MT-TN	0.00	0	No known value for % of coding sequence sufficiently covered to detect heterozygous mutations
  MT-TA	0.00	0	No known value for % of coding sequence sufficiently covered to detect heterozygous mutations
  MT-TC	0.00	0	No known value for % of coding sequence sufficiently covered to detect heterozygous mutations
  MT-TG	0.00	0	No known value for % of coding sequence sufficiently covered to detect heterozygous mutations
  MT-TR	0.00	0	No known value for % of coding sequence sufficiently covered to detect heterozygous mutations
  MT-TY	0.00	0	No known value for % of coding sequence sufficiently covered to detect heterozygous mutations
  MT-TD	0.00	0	No known value for % of coding sequence sufficiently covered to detect heterozygous mutations
  MT-RNR1	0.00	0	No known value for % of coding sequence sufficiently covered to detect heterozygous mutations
  MT-RNR2	0.00	0	No known value for % of coding sequence sufficiently covered to detect heterozygous mutations

• Lysomal Storage (64 genes) - VUB
  Details

  Gene	% of coding sequence sufficiently covered to detect heterozygous mutations	Copy number variation	Comments
  ADCY5	94.52	0	No comment
  AGA	100.00	0	No comment
  ARSA	100.00	0	No comment
  SLURP1	85.73	0	No comment
  ASAH1	99.94	0	No comment
  CHIT1	100.00	0	No comment
  CLN3	100.00	0	No comment
  CLN5	99.94	0	No comment
  CLN6	90.35	0	No comment
  CLN8	100.00	0	No comment
  CTNS	100.00	0	No comment
  CTSA	100.00	0	No comment
  CTSC	100.00	0	No comment
  CTSD	99.45	0	No comment
  CTSK	100.00	0	No comment
  DGUOK	100.00	0	No comment
  FBXL4	100.00	0	No comment
  FUCA1	100.00	0	No comment
  GAA	100.00	0	No comment
  GALC	98.44	0	No comment
  GALNS	96.18	0	No comment
  GBA1	100.00	0	No comment
  GLA	100.00	0	No comment
  GLB1	100.00	0	No comment
  GM2A	100.00	0	No comment
  GNPTAB	100.00	0	No comment
  GNPTG	94.69	0	No comment
  GNS	100.00	0	No comment
  GUSB	100.00	0	No comment
  HEXA	100.00	0	No comment
  HEXB	99.82	0	No comment
  HGSNAT	93.95	0	No comment
  HYAL1	100.00	0	No comment
  IDS	100.00	0	No comment
  IDUA	88.67	0	No comment
  LAMP2	100.00	0	No comment
  LIPA	100.00	0	No comment
  MAN2B1	100.00	0	No comment
  MANBA	99.97	0	No comment
  MCOLN1	97.27	0	No comment
  MFSD8	100.00	0	No comment
  MGME1	100.00	0	No comment
  MPV17	100.00	0	No comment
  NAGA	100.00	0	No comment
  NAGLU	87.38	0	No comment
  NEU1	100.00	0	No comment
  NPC1	98.40	0	No comment
  NPC2	100.00	0	No comment
  OCRL	99.77	0	No comment
  POLG	100.00	0	No comment
  PPT1	100.00	0	No comment
  PSAP	100.00	0	No comment
  RRM2B	100.00	0	No comment
  SGSH	99.99	0	No comment
  SLC17A5	100.00	0	No comment
  SMPD1	100.00	0	No comment
  STS	100.00	0	No comment
  SUCLA2	100.00	0	No comment
  SUCLG1	95.74	0	No comment
  SUMF1	100.00	0	No comment
  TK2	95.90	0	No comment
  ACD	100.00	0	No comment
  TWNK	100.00	0	No comment
  TYMP	91.72	0	No comment

• MNGIE syndrome (4 genes) - VUB
  Details

  Gene	% of coding sequence sufficiently covered to detect heterozygous mutations	Copy number variation	Comments
  TYMP
  POLG
  POLG2
  RRM2B

• Malformations of cortical development (235 genes) - VUB
  Details

  Gene	% of coding sequence sufficiently covered to detect heterozygous mutations	Copy number variation	Comments
  ACTB	100.00	0	No comment
  ACTG1	100.00	0	No comment
  ADGRG1	100.00	0	No comment
  AGBL2	96.33	0	No comment
  AHI1	100.00	0	No comment
  AKT1	100.00	0	No comment
  AKT3	100.00	0	No comment
  AP1S2	100.00	0	No comment
  AP4E1	100.00	0	No comment
  AP4M1	100.00	0	No comment
  AP4S1	87.40	0	No comment
  ARFGEF2	100.00	0	No comment
  ARHGAP31	100.00	0	No comment
  ARID1B	92.99	0	No comment
  ARL13B	100.00	0	No comment
  ARX	78.98	0	No comment
  ASNS	100.00	0	No comment
  ASPM	100.00	0	No comment
  ASXL1	99.91	0	No comment
  ATP6V0A2	100.00	0	No comment
  ANTXR1	100.00	0	No comment
  B3GALNT2	85.88	0	No comment
  B3GNT2	100.00	0	No comment
  B4GAT1	100.00	0	No comment
  BICD2	100.00	0	No comment
  C2CD3	100.00	0	No comment
  CACNA1E	100.00	0	No comment
  CASK	100.00	0	No comment
  CCND2	100.00	0	No comment
  CDK5	100.00	0	No comment
  CDK5RAP2	100.00	0	No comment
  CDK6	100.00	0	No comment
  CDON	100.00	0	No comment
  CENPE	100.00	0	No comment
  CENPJ	100.00	0	No comment
  CEP135	100.00	0	No comment
  CEP152	100.00	0	No comment
  CEP55	100.00	0	No comment
  CHD7	100.00	0	No comment
  CHD8	100.00	0	No comment
  CIT	100.00	0	No comment
  CKAP2L	100.00	0	No comment
  CNOT1	100.00	0	No comment
  CNTNAP2	99.85	0	No comment
  COL18A1	97.80	0	No comment
  COL3A1	100.00	0	No comment
  COL4A1	98.71	0	No comment
  COL4A2	100.00	0	No comment
  CRADD	100.00	0	No comment
  CRPPA	95.75	0	No comment
  CSPP1	100.00	0	No comment
  CUL4B	100.00	0	No comment
  DAB1	100.00	0	No comment
  DAG1	100.00	0	No comment
  DCHS1	99.64	0	No comment
  DCLK2	100.00	0	No comment
  DCX	100.00	0	No comment
  DDX3X	100.00	0	No comment
  DEPDC5	99.62	0	No comment
  DHCR7	100.00	0	No comment
  DISP1	100.00	0	No comment
  DKC1	100.00	0	No comment
  DOCK6	99.12	0	No comment
  DYNC1H1	100.00	0	No comment
  EIF2AK3	95.52	0	No comment
  EIF2S3	100.00	0	No comment
  EMG1	100.00	0	No comment
  EML1	97.08	0	No comment
  EMX2	100.00	0	No comment
  EOMES	98.56	0	No comment
  EPG5	100.00	0	No comment
  ERCC1	100.00	0	No comment
  ERCC2	100.00	0	No comment
  ERCC5	100.00	0	No comment
  ERCC6	100.00	0	No comment
  ERMARD	100.00	0	No comment
  EZH2	100.00	0	No comment
  FAT4	100.00	0	No comment
  FGF8	94.82	0	No comment
  FH	100.00	0	No comment
  FIG4	100.00	0	No comment
  FKRP	98.68	0	No comment
  FKTN	100.00	0	No comment
  FLNA	100.00	0	No comment
  FOXC1	62.57	0	No comment
  FOXG1	85.88	0	No comment
  FOXH1	100.00	0	No comment
  FUBP1	100.00	0	No comment
  GAS1	62.99	0	No comment
  GLI2	95.11	0	No comment
  GMPPB	100.00	0	No comment
  GNAQ	100.00	0	No comment
  GPC3	100.00	0	No comment
  GPSM2	100.00	0	No comment
  GRIN1	99.97	0	No comment
  GRIN2B	100.00	0	No comment
  HEPACAM	96.82	0	No comment
  HERC1	100.00	0	No comment
  HNRNPU	99.54	0	No comment
  HSD17B4	100.00	0	No comment
  HYLS1	100.00	0	No comment
  IER3IP1	99.93	0	No comment
  INTS8	100.00	0	No comment
  JAM3	100.00	0	No comment
  KAT6A	100.00	0	No comment
  KAT6B	100.00	0	No comment
  KATNB1	100.00	0	No comment
  KDM5C	100.00	0	No comment
  KIF11	100.00	0	No comment
  KIFBP	100.00	0	No comment
  KIF21B	100.00	0	No comment
  KIF2A	98.88	0	No comment
  KIF5C	100.00	0	No comment
  KIF7	96.94	0	No comment
  KNL1	98.62	0	No comment
  L1CAM	100.00	0	No comment
  LAMA1	99.93	0	No comment
  LAMA2	100.00	0	No comment
  LAMB1	100.00	0	No comment
  LAMC3	97.51	0	No comment
  LARGE1	100.00	0	No comment
  MACF1	100.00	0	No comment
  MAN2C1	100.00	0	No comment
  MAP1B	100.00	0	No comment
  MAPK8IP3	99.25	0	No comment
  MCPH1	100.00	0	No comment
  MECP2	98.28	0	No comment
  MED12	99.96	0	No comment
  MED17	100.00	0	No comment
  MEF2C	100.00	0	No comment
  MFSD2A	100.00	0	No comment
  MID1	100.00	0	No comment
  MPDZ	100.00	0	No comment
  MTOR	100.00	0	No comment
  MYCN	86.70	0	No comment
  MYH10	100.00	0	No comment
  NBN	100.00	0	No comment
  NDE1	100.00	0	No comment
  NEDD4L	100.00	0	No comment
  NFIB	100.00	0	No comment
  NHEJ1	100.00	0	No comment
  NIPBL	99.98	0	No comment
  NODAL	99.99	0	No comment
  NPRL2	100.00	0	No comment
  NPRL3	100.00	0	No comment
  NR2F1	92.00	0	No comment
  NSD1	100.00	0	No comment
  NSDHL	100.00	0	No comment
  OCLN	100.00	0	No comment
  OFD1	99.88	0	No comment
  PAFAH1B1	100.00	0	No comment
  PAX6	100.00	0	No comment
  PCNT	100.00	0	No comment
  PEX1	100.00	0	No comment
  PI4KA	99.44	0	No comment
  PIGA	100.00	0	No comment
  PIK3CA	100.00	0	No comment
  PIK3R2	89.19	0	No comment
  PITX2	100.00	0	No comment
  PLK4	100.00	0	No comment
  PNKP	100.00	0	No comment
  POMGNT1	100.00	0	No comment
  POMGNT2	100.00	0	No comment
  POMK	100.00	0	No comment
  POMT1	100.00	0	No comment
  POMT2	99.90	0	No comment
  PRRX1	100.00	0	No comment
  PSAT1	100.00	0	No comment
  PTCH1	98.48	0	No comment
  PTEN	98.86	0	No comment
  PYCR2	100.00	0	No comment
  QARS1	100.00	0	No comment
  RAB18	100.00	0	No comment
  RAB3GAP1	100.00	0	No comment
  RAB3GAP2	100.00	0	No comment
  RELN	99.96	0	No comment
  RNASEH2A	100.00	0	No comment
  RNASEH2B	95.67	0	No comment
  RNASEH2C	100.00	0	No comment
  RNASET2	99.98	0	No comment
  RNU4ATAC	100.00	0	No comment
  RTTN	100.00	0	No comment
  RXYLT1	99.84	0	No comment
  SAMHD1	100.00	0	No comment
  SCN3A	100.00	0	No comment
  SETD5	100.00	0	No comment
  SF3B4	100.00	0	No comment
  SHH	92.83	0	No comment
  SIN3A	99.82	0	No comment
  SIX3	99.59	0	No comment
  SLC25A19	100.00	0	No comment
  SLC35A2	100.00	0	No comment
  SLC9A6	99.96	0	No comment
  SMPD4	99.97	0	No comment
  SNAP29	100.00	0	No comment
  SOX9	97.88	0	No comment
  AFG2A	100.00	0	No comment
  SRD5A3	99.42	0	No comment
  SRPX2	100.00	0	No comment
  STAMBP	100.00	0	No comment
  STIL	100.00	0	No comment
  STRADA	100.00	0	No comment
  TBC1D20	93.59	0	No comment
  TBC1D24	100.00	0	No comment
  TBC1D7	100.00	0	No comment
  TCF4	100.00	0	No comment
  TCTN1	93.78	0	No comment
  TGIF1	100.00	0	No comment
  TMEM216	100.00	0	No comment
  TMEM67	100.00	0	No comment
  TMX2	100.00	0	No comment
  TREX1	100.00	0	No comment
  TSC1	100.00	0	No comment
  TSC2	100.00	0	No comment
  TSEN54	94.23	0	No comment
  TUBA1A	100.00	0	No comment
  TUBA8	100.00	0	No comment
  TUBB	99.87	0	No comment
  TUBB2A	99.99	0	No comment
  TUBB2B	100.00	0	No comment
  TUBB3	98.24	0	No comment
  TUBB4A	99.85	0	No comment
  TUBG1	100.00	0	No comment
  TUBGCP4	99.99	0	No comment
  TUBGCP6	100.00	0	No comment
  UBE3A	100.00	0	No comment
  VLDLR	96.53	0	No comment
  VPS13B	99.25	0	No comment
  WDR62	100.00	0	No comment
  WDR73	100.00	0	No comment
  YWHAE	98.69	0	No comment
  ZEB2	100.00	0	No comment
  ZIC2	80.54	0	No comment
  ZNF335	100.00	0	No comment
  ZSWIM6	88.87	0	No comment

• Metabolic disorders (213 genes) - VUB
  Details

  Gene	% of coding sequence sufficiently covered to detect heterozygous mutations	Copy number variation	Comments
  ABAT	100.00	0	No comment
  ABCD1	99.93	0	No comment
  ACAT1	97.28	0	No comment
  ACOX1	100.00	0	No comment
  AGL	99.98	0	No comment
  AGPS	100.00	0	No comment
  AGXT	100.00	0	No comment
  ALDH18A1	100.00	0	No comment
  ALDH7A1	100.00	0	No comment
  ALDOA	100.00	0	No comment
  ALDOB	100.00	0	No comment
  ALG1	92.65	0	No comment
  ALG10	100.00	0	No comment
  ALG11	100.00	0	No comment
  ALG12	100.00	0	No comment
  ALG13	99.96	0	No comment
  ALG14	100.00	0	No comment
  ALG2	99.94	0	No comment
  ALG3	99.22	0	No comment
  ALG5	99.99	0	No comment
  ALG6	100.00	0	No comment
  ALG8	95.91	0	No comment
  ALG9	98.65	0	No comment
  AMACR	99.83	0	No comment
  AMT	99.94	0	No comment
  ASPA	100.00	0	No comment
  ATP6AP1	99.51	0	No comment
  ATP6V0A2	100.00	0	No comment
  ATP6V1A	100.00	0	No comment
  ATP6V1E1	100.00	0	No comment
  ATP7A	100.00	0	No comment
  ATP9B	99.97	0	No comment
  B3GALNT2	85.88	0	No comment
  B3GALT6	56.12	0	No comment
  B3GAT3	95.56	0	No comment
  B3GLCT	94.89	0	No comment
  B4GALNT1	100.00	0	No comment
  B4GALT1	100.00	0	No comment
  B4GALT7	93.23	0	No comment
  BCKDHA	100.00	0	No comment
  BCKDHB	100.00	0	No comment
  BTD	100.00	0	No comment
  CAD	100.00	0	No comment
  CCDC115	100.00	0	No comment
  CHST14	98.57	0	No comment
  CHST3	100.00	0	No comment
  CHST6	100.00	0	No comment
  CHSY1	91.67	0	No comment
  COG1	99.24	0	No comment
  COG2	100.00	0	No comment
  COG3	100.00	0	No comment
  COG4	100.00	0	No comment
  COG5	100.00	0	No comment
  COG6	100.00	0	No comment
  COG7	100.00	0	No comment
  COG8	100.00	0	No comment
  CRPPA	95.75	0	No comment
  CTH	100.00	0	No comment
  D2HGDH	100.00	0	No comment
  DAD1	100.00	0	No comment
  DBH	100.00	0	No comment
  DBT	100.00	0	No comment
  DDC	100.00	0	No comment
  DDOST	100.00	0	No comment
  DHDDS	100.00	0	No comment
  DNM1L	100.00	0	No comment
  DOLK	100.00	0	No comment
  DPAGT1	100.00	0	No comment
  DPM1	100.00	0	No comment
  DPM2	100.00	0	No comment
  DPM3	100.00	0	No comment
  ENO3	100.00	0	No comment
  EOGT	100.00	0	No comment
  EXT1	100.00	0	No comment
  EXT2	100.00	0	No comment
  FANCA	100.00	0	No comment
  FKRP	98.68	0	No comment
  FKTN	100.00	0	No comment
  FUT1	100.00	0	No comment
  G6PC1	100.00	0	No comment
  GAA	100.00	0	No comment
  GABRG2	92.03	0	No comment
  GALE	100.00	0	No comment
  GALK1	99.95	0	No comment
  GALNT3	100.00	0	No comment
  GALT	100.00	0	No comment
  GAMT	98.60	0	No comment
  GANAB	100.00	0	No comment
  GATM	99.26	0	No comment
  GBE1	100.00	0	No comment
  GCDH	100.00	0	No comment
  GCH1	96.30	0	No comment
  GCSH	76.04	0	No comment
  GFPT1	99.98	0	No comment
  GLDC	96.53	0	No comment
  GMPPA	100.00	0	No comment
  GMPPB	100.00	0	No comment
  GNE	100.00	0	No comment
  GNMT	100.00	0	No comment
  GNPAT	100.00	0	No comment
  GYS1	100.00	0	No comment
  GYS2	100.00	0	No comment
  HGD	100.00	0	No comment
  HLCS	100.00	0	No comment
  HMGCL	100.00	0	No comment
  HPRT1	94.60	0	No comment
  HSD17B4	100.00	0	No comment
  IVD	100.00	0	No comment
  LAMP2	100.00	0	No comment
  LARGE1	100.00	0	No comment
  LDHA	100.00	0	No comment
  LFNG	82.55	0	No comment
  MAGT1	100.00	0	No comment
  MAN1B1	99.99	0	No comment
  MAOA	99.95	0	No comment
  MCCC1	100.00	0	No comment
  MCCC2	99.99	0	No comment
  MGAT2	100.00	0	No comment
  MMAA	100.00	0	No comment
  MMAB	100.00	0	No comment
  MMACHC	100.00	0	No comment
  MOGS	98.73	0	No comment
  MPDU1	100.00	0	No comment
  MPI	100.00	0	No comment
  MMUT	100.00	0	No comment
  NANS	100.00	0	No comment
  NGLY1	99.98	0	No comment
  NUS1	100.00	0	No comment
  OAT	100.00	0	No comment
  OST4	100.00	0	No comment
  PCCA	100.00	0	No comment
  PCCB	99.98	0	No comment
  PEX1	100.00	0	No comment
  PEX10	88.47	0	No comment
  PEX11B	100.00	0	No comment
  PEX12	100.00	0	No comment
  PEX13	100.00	0	No comment
  PEX14	100.00	0	No comment
  PEX16	100.00	0	No comment
  PEX19	100.00	0	No comment
  PEX2	100.00	0	No comment
  PEX26	100.00	0	No comment
  PEX3	100.00	0	No comment
  PEX5	100.00	0	No comment
  PEX6	98.56	0	No comment
  PEX7	91.13	0	No comment
  PFKM	100.00	0	No comment
  PGAM2	100.00	0	No comment
  PGAP1	100.00	0	No comment
  PGAP2	100.00	0	No comment
  PGAP3	99.90	0	No comment
  PGM1	100.00	0	No comment
  PGM2	100.00	0	No comment
  PGM3	99.99	0	No comment
  PHGDH	100.00	0	No comment
  PHKA1	100.00	0	No comment
  PHKA2	100.00	0	No comment
  PHKB	100.00	0	No comment
  PHKG2	100.00	0	No comment
  PIGA	100.00	0	No comment
  PIGC	100.00	0	No comment
  PIGG	100.00	0	No comment
  PIGL	100.00	0	No comment
  PIGM	100.00	0	No comment
  PIGN	100.00	0	No comment
  PIGO	100.00	0	No comment
  PIGV	100.00	0	No comment
  PIGW	100.00	0	No comment
  PIGY	100.00	0	No comment
  PMM2	100.00	0	No comment
  PNPO	100.00	0	No comment
  POFUT1	100.00	0	No comment
  POGLUT1	100.00	0	No comment
  POMGNT1	100.00	0	No comment
  POMT1	100.00	0	No comment
  POMT2	99.90	0	No comment
  PRKCSH	100.00	0	No comment
  PSAT1	100.00	0	No comment
  PYGL	100.00	0	No comment
  PYGM	100.00	0	No comment
  RFT1	100.00	0	No comment
  RPN1	100.00	0	No comment
  RPN2	100.00	0	No comment
  RXYLT1	99.84	0	No comment
  SCP2	100.00	0	No comment
  SEC23B	100.00	0	No comment
  SLC25A22	100.00	0	No comment
  SLC2A1	99.94	0	No comment
  SLC35A1	100.00	0	No comment
  SLC35A2	100.00	0	No comment
  SLC35A3	100.00	0	No comment
  SLC35C1	100.00	0	No comment
  SLC35D1	99.99	0	No comment
  SLC39A8	97.00	0	No comment
  SLC3A1	100.00	0	No comment
  SLC6A19	100.00	0	No comment
  SLC6A8	98.78	0	No comment
  SLC7A9	100.00	0	No comment
  SPR	96.81	0	No comment
  SRD5A3	99.42	0	No comment
  SSR3	100.00	0	No comment
  SSR4	99.93	0	No comment
  ST3GAL3	100.00	0	No comment
  ST3GAL5	92.64	0	No comment
  STT3A	100.00	0	No comment
  STT3B	99.25	0	No comment
  TMEM165	89.91	0	No comment
  TMEM199	100.00	0	No comment
  TRAPPC11	100.00	0	No comment
  TUSC3	100.00	0	No comment
  VPS13B	99.25	0	No comment
  XYLT1	88.83	0	No comment
  XYLT2	98.70	0	No comment

• Neurodevelopmental disorders: developmental delay, intellectual disability, autistic disorders (1162 genes) - VUB
  Details

  Gene	% of coding sequence sufficiently covered to detect heterozygous mutations	Copy number variation	Comments
  A2ML1	100.00	0	No comment
  ABCC6	100.00	0	No comment
  ABCC9	100.00	0	No comment
  ABCD1	99.93	0	No comment
  ABCD4	100.00	0	No comment
  ABCG5	100.00	0	No comment
  ABHD5	99.98	0	No comment
  ABI2	100.00	0	No comment
  ACAD9	100.00	0	No comment
  ACAT1	97.28	0	No comment
  ACO2	100.00	0	No comment
  ACOX1	100.00	0	No comment
  ACSF3	100.00	0	No comment
  ACSL4	100.00	0	No comment
  ACTB	100.00	0	No comment
  ACTG1	100.00	0	No comment
  ACVR1	100.00	0	No comment
  ACY1	100.00	0	No comment
  ADAR	100.00	0	No comment
  ADAT3	97.38	0	No comment
  ADCY5	94.52	0	No comment
  ADGRG1	100.00	0	No comment
  ADK	100.00	0	No comment
  ADNP	100.00	0	No comment
  ADRA2B	100.00	0	No comment
  ADSL	100.00	0	No comment
  AFF2	100.00	0	No comment
  AFF3	99.89	0	No comment
  AFP	100.00	0	No comment
  AGA	100.00	0	No comment
  AGBL4	100.00	0	No comment
  AGL	99.98	0	No comment
  AGPAT2	96.18	0	No comment
  AGXT	100.00	0	No comment
  AGTR2	100.00	0	No comment
  AHCY	100.00	0	No comment
  AHDC1	100.00	0	No comment
  AHI1	100.00	0	No comment
  AIFM1	100.00	0	No comment
  AIMP1	100.00	0	No comment
  AK1	100.00	0	No comment
  AKT1	100.00	0	No comment
  AKT1S1	99.49	0	No comment
  AKT3	100.00	0	No comment
  ALDH18A1	100.00	0	No comment
  ALDH3A2	99.95	0	No comment
  ALDH4A1	97.15	0	No comment
  ALDH5A1	83.59	0	No comment
  ALG1	92.65	0	No comment
  ALG11	100.00	0	No comment
  ALG12	100.00	0	No comment
  ALG13	99.96	0	No comment
  ALG2	99.94	0	No comment
  ALG3	99.22	0	No comment
  ALG6	100.00	0	No comment
  ALG9	98.65	0	No comment
  ALX1	100.00	0	No comment
  ALX4	99.70	0	No comment
  AMER1	100.00	0	No comment
  AMPD2	100.00	0	No comment
  AMT	99.94	0	No comment
  ANK2	100.00	0	No comment
  ANK3	100.00	0	No comment
  ANKH	100.00	0	No comment
  ANKRD11	100.00	0	No comment
  ANO10	100.00	0	No comment
  ANO3	100.00	0	No comment
  ANO5	100.00	0	No comment
  ANTXR1	100.00	0	No comment
  AP1S1	100.00	0	No comment
  AP1S2	100.00	0	No comment
  AP3B1	100.00	0	No comment
  AP4B1	100.00	0	No comment
  AP4E1	100.00	0	No comment
  AP4M1	100.00	0	No comment
  AP4S1	87.40	0	No comment
  APAF1	100.00	0	No comment
  APC	100.00	0	No comment
  APTX	100.00	0	No comment
  AQP7	100.00	0	No comment
  AR	99.29	0	No comment
  ARFGEF2	100.00	0	No comment
  ARG1	100.00	0	No comment
  ARHGEF4	100.00	0	No comment
  ARHGEF6	100.00	0	No comment
  ARHGEF7	99.95	0	No comment
  ARHGEF9	100.00	0	No comment
  ARID1A	94.64	0	No comment
  ARID1B	92.99	0	No comment
  ARID2	100.00	0	No comment
  ARL13B	100.00	0	No comment
  ARL6	100.00	0	No comment
  ARSL	100.00	0	No comment
  ARX	78.98	0	No comment
  ASH1L	100.00	0	No comment
  ASL	100.00	0	No comment
  ASNS	100.00	0	No comment
  ASPA	100.00	0	No comment
  ASPM	100.00	0	No comment
  ASS1	99.87	0	No comment
  ASTN2	91.86	0	No comment
  ASXL1	99.91	0	No comment
  ASXL3	100.00	0	No comment
  ATIC	99.06	0	No comment
  ATL1	100.00	0	No comment
  ATM	100.00	0	No comment
  ATP13A2	99.17	0	No comment
  ATP1A2	100.00	0	No comment
  ATP2A2	100.00	0	No comment
  ATP6AP2	99.95	0	No comment
  ATP6V0A2	100.00	0	No comment
  ATP7A	100.00	0	No comment
  ATP8A2	99.93	0	No comment
  ATRX	100.00	0	No comment
  ATXN1	100.00	0	No comment
  AUH	96.44	0	No comment
  AUTS2	98.20	0	No comment
  NLRP3	100.00	0	No comment
  AVPR2	100.00	0	No comment
  AXIN1	100.00	0	No comment
  B3GLCT	94.89	0	No comment
  B4GALT1	100.00	0	No comment
  B4GALT7	93.23	0	No comment
  BBS1	100.00	0	No comment
  BBS10	100.00	0	No comment
  BBS12	100.00	0	No comment
  BBS2	100.00	0	No comment
  BBS4	100.00	0	No comment
  BBS5	100.00	0	No comment
  BBS7	100.00	0	No comment
  BBS9	100.00	0	No comment
  BCKDHA	100.00	0	No comment
  BCKDHB	100.00	0	No comment
  BCL11A	100.00	0	No comment
  BCOR	100.00	0	No comment
  BCS1L	100.00	0	No comment
  BIN1	100.00	0	No comment
  BIRC6	100.00	0	No comment
  BLM	100.00	0	No comment
  BRAF	96.97	0	No comment
  BRCA2	100.00	0	No comment
  BRIP1	100.00	0	No comment
  BRWD3	100.00	0	No comment
  BSCL2	100.00	0	No comment
  BTD	100.00	0	No comment
  BUB1B	100.00	0	No comment
  C12ORF57	100.00	0	No comment
  MTRFR	100.00	0	No comment
  CA2	100.00	0	No comment
  CA8	100.00	0	No comment
  CACNA1A	98.78	0	No comment
  CACNA1B	96.03	0	No comment
  CACNA1C	100.00	0	No comment
  CACNA1D	100.00	0	No comment
  CACNA1F	99.89	0	No comment
  CACNA1G	100.00	0	No comment
  CACNA1H	97.35	0	No comment
  CACNA2D3	98.60	0	No comment
  CACNB2	100.00	0	No comment
  CACNG2	100.00	0	No comment
  CALM1	100.00	0	No comment
  CAMK2B	99.93	0	No comment
  CAMTA1	99.39	0	No comment
  CANT1	100.00	0	No comment
  CASK	100.00	0	No comment
  CBL	100.00	0	No comment
  CBS	100.00	0	No comment
  CC2D1A	100.00	0	No comment
  CC2D2A	98.16	0	No comment
  CCAR2	100.00	0	No comment
  CCBE1	99.97	0	No comment
  CCDC22	99.93	0	No comment
  CCDC39	100.00	0	No comment
  CCDC78	100.00	0	No comment
  CCDC88C	99.92	0	No comment
  CCNT1	100.00	0	No comment
  CCSER1	100.00	0	No comment
  CD163L1	100.00	0	No comment
  CDH15	97.06	0	No comment
  CDK5RAP2	100.00	0	No comment
  CDK6	100.00	0	No comment
  CDKL5	100.00	0	No comment
  CDKN1C	62.25	0	No comment
  CDON	100.00	0	No comment
  CELSR1	93.72	0	No comment
  CENPE	100.00	0	No comment
  CENPJ	100.00	0	No comment
  CEP135	100.00	0	No comment
  CEP152	100.00	0	No comment
  CEP290	99.99	0	No comment
  CEP41	100.00	0	No comment
  CEP55	100.00	0	No comment
  CEP57	100.00	0	No comment
  CFAP53	100.00	0	No comment
  CHAMP1	100.00	0	No comment
  CHAT	100.00	0	No comment
  CHD1	100.00	0	No comment
  CHD2	100.00	0	No comment
  CHD3	97.58	0	No comment
  CHD7	100.00	0	No comment
  CHD8	100.00	0	No comment
  CHKB	99.69	0	No comment
  CHRNA2	100.00	0	No comment
  CHRNA4	97.18	0	No comment
  CHRND	100.00	0	No comment
  CIC	99.99	0	No comment
  CLCN4	100.00	0	No comment
  CLCN7	94.99	0	No comment
  CLCNKB	100.00	0	No comment
  CLIC2	100.00	0	No comment
  CLIP1	100.00	0	No comment
  CLN3	100.00	0	No comment
  CLN5	99.94	0	No comment
  CLN6	90.35	0	No comment
  CLN8	100.00	0	No comment
  CLTC	100.00	0	No comment
  CMIP	99.97	0	No comment
  CNKSR2	100.00	0	No comment
  CNOT1	100.00	0	No comment
  CNOT3	100.00	0	No comment
  CNOT4	100.00	0	No comment
  CNOT6	100.00	0	No comment
  CNTN3	100.00	0	No comment
  CNTN4	100.00	0	No comment
  CNTNAP2	99.85	0	No comment
  COG1	99.24	0	No comment
  COG5	100.00	0	No comment
  COG6	100.00	0	No comment
  COG7	100.00	0	No comment
  COG8	100.00	0	No comment
  COL11A1	100.00	0	No comment
  COL1A2	99.93	0	No comment
  COL4A1	98.71	0	No comment
  COL4A2	100.00	0	No comment
  CERT1	100.00	0	No comment
  COLEC11	100.00	0	No comment
  COQ2	97.15	0	No comment
  COQ8A	100.00	0	No comment
  COX10	100.00	0	No comment
  COX15	100.00	0	No comment
  CP	100.00	0	No comment
  CYP2A6	100.00	0	No comment
  CPLANE1	100.00	0	No comment
  CYP21A2	100.00	0	No comment
  CRADD	100.00	0	No comment
  CRBN	100.00	0	No comment
  CREB1	100.00	0	No comment
  CREBBP	100.00	0	No comment
  CRPPA	95.75	0	No comment
  CSTF2T	100.00	0	No comment
  CTC1	100.00	0	No comment
  CTCF	100.00	0	No comment
  CTDP1	89.61	0	No comment
  CTNNB1	100.00	0	No comment
  CTNND2	93.57	0	No comment
  CTSA	100.00	0	No comment
  CTSD	99.45	0	No comment
  CTTNBP2	99.32	0	No comment
  CUBN	100.00	0	No comment
  CUL3	100.00	0	No comment
  CUL4B	100.00	0	No comment
  CUL5	100.00	0	No comment
  CUX2	100.00	0	No comment
  CYB5R3	96.25	0	No comment
  CYFIP1	100.00	0	No comment
  CYP27A1	99.68	0	No comment
  D2HGDH	100.00	0	No comment
  DAB1	100.00	0	No comment
  DAG1	100.00	0	No comment
  DAGLA	100.00	0	No comment
  DARS2	100.00	0	No comment
  DBT	100.00	0	No comment
  DCAF17	96.47	0	No comment
  DCLK2	100.00	0	No comment
  DCX	100.00	0	No comment
  DDHD2	100.00	0	No comment
  DDX11	100.00	0	No comment
  DDX3X	100.00	0	No comment
  DEAF1	87.03	0	No comment
  DHCR24	99.96	0	No comment
  DHCR7	100.00	0	No comment
  DHDDS	100.00	0	No comment
  DHFR	99.48	0	No comment
  DHTKD1	99.98	0	No comment
  DHX9	100.00	0	No comment
  DIAPH1	99.15	0	No comment
  DIAPH3	100.00	0	No comment
  DIP2A	99.92	0	No comment
  DIP2B	99.88	0	No comment
  DIPK2A	99.79	0	No comment
  DISC1	86.36	0	No comment
  DKC1	100.00	0	No comment
  DLD	100.00	0	No comment
  DLG2	100.00	0	No comment
  DLG3	99.83	0	No comment
  DLG4	100.00	0	No comment
  DMD	100.00	0	No comment
  DMPK	99.97	0	No comment
  DNAH5	100.00	0	No comment
  DNAJC19	100.00	0	No comment
  DNM1	94.44	0	No comment
  DNMT1	100.00	0	No comment
  DNMT3A	100.00	0	No comment
  DNMT3B	100.00	0	No comment
  DOCK8	99.43	0	No comment
  DPAGT1	100.00	0	No comment
  DPM1	100.00	0	No comment
  DPP6	96.95	0	No comment
  DPYD	100.00	0	No comment
  DSCAM	100.00	0	No comment
  DST	100.00	0	No comment
  DUSP15	83.99	0	No comment
  DYM	100.00	0	No comment
  DYNC1H1	100.00	0	No comment
  DYRK1A	100.00	0	No comment
  GLB1	100.00	0	No comment
  ECM2	100.00	0	No comment
  EFCAB5	97.32	0	No comment
  EFNB1	100.00	0	No comment
  EFTUD2	100.00	0	No comment
  EHMT1	98.85	0	No comment
  EIF2AK3	95.52	0	No comment
  EIF2S3	100.00	0	No comment
  EIF3G	100.00	0	No comment
  EIF4A1	100.00	0	No comment
  EIF4G1	100.00	0	No comment
  ELK1	100.00	0	No comment
  ELOVL4	100.00	0	No comment
  ELP2	100.00	0	No comment
  EML1	97.08	0	No comment
  EMX2	100.00	0	No comment
  EN2	88.10	0	No comment
  EP300	100.00	0	No comment
  EP400	100.00	0	No comment
  EPB41L1	100.00	0	No comment
  EPHA5	99.98	0	No comment
  EPHB2	97.39	0	No comment
  ERBB4	100.00	0	No comment
  ERCC2	100.00	0	No comment
  ERCC3	100.00	0	No comment
  ERCC5	100.00	0	No comment
  ERCC6	100.00	0	No comment
  ERCC8	100.00	0	No comment
  ERLIN2	100.00	0	No comment
  ESCO2	100.00	0	No comment
  ETFB	100.00	0	No comment
  ETHE1	99.88	0	No comment
  EXOSC3	100.00	0	No comment
  EXT1	100.00	0	No comment
  EZH2	100.00	0	No comment
  EZR	100.00	0	No comment
  F5	100.00	0	No comment
  FAAH2	100.00	0	No comment
  HYCC1	100.00	0	No comment
  FANCB	100.00	0	No comment
  FANCD2	100.00	0	No comment
  FANCG	100.00	0	No comment
  FBLN5	100.00	0	No comment
  FBN1	100.00	0	No comment
  FBN2	100.00	0	No comment
  FBXO31	91.75	0	No comment
  FBXO33	90.47	0	No comment
  FEZF2	97.53	0	No comment
  FGD1	99.39	0	No comment
  FGF12	100.00	0	No comment
  FGF14	99.99	0	No comment
  FGFR1	100.00	0	No comment
  FGFR2	100.00	0	No comment
  FGFR3	99.26	0	No comment
  FH	100.00	0	No comment
  FIGN	100.00	0	No comment
  FKRP	98.68	0	No comment
  FKTN	100.00	0	No comment
  FLNA	100.00	0	No comment
  FLVCR1	100.00	0	No comment
  FMN2	99.94	0	No comment
  FMR1	100.00	0	No comment
  FOLR1	100.00	0	No comment
  FOXG1	85.88	0	No comment
  FOXP1	100.00	0	No comment
  FOXP2	100.00	0	No comment
  FOXP3	100.00	0	No comment
  FRAS1	100.00	0	No comment
  FRMPD4	100.00	0	No comment
  FTCD	98.36	0	No comment
  FTO	100.00	0	No comment
  FTSJ1	100.00	0	No comment
  FUCA1	100.00	0	No comment
  G6PC3	100.00	0	No comment
  GABRA1	100.00	0	No comment
  GABRA5	100.00	0	No comment
  GABRB2	100.00	0	No comment
  GABRB3	99.79	0	No comment
  GABRG2	92.03	0	No comment
  GABRG3	99.96	0	No comment
  GAD1	100.00	0	No comment
  GALE	100.00	0	No comment
  GALK1	99.95	0	No comment
  GALNT18	100.00	0	No comment
  GALT	100.00	0	No comment
  GAMT	98.60	0	No comment
  GAN	99.52	0	No comment
  GARS1	99.53	0	No comment
  GAS2	100.00	0	No comment
  GATAD2B	100.00	0	No comment
  GATM	99.26	0	No comment
  GBA1	100.00	0	No comment
  GBE1	100.00	0	No comment
  GCH1	96.30	0	No comment
  GCK	100.00	0	No comment
  GCOM1	94.20	0	No comment
  GCSH	76.04	0	No comment
  GDI1	100.00	0	No comment
  GFAP	100.00	0	No comment
  GFM1	100.00	0	No comment
  GHR	99.82	0	No comment
  GIGYF1	100.00	0	No comment
  GJB1	99.54	0	No comment
  GJB6	100.00	0	No comment
  GJC2	81.91	0	No comment
  GK	99.94	0	No comment
  GLDC	96.53	0	No comment
  GLI2	95.11	0	No comment
  GLI3	100.00	0	No comment
  GLO1	100.00	0	No comment
  GLRA1	100.00	0	No comment
  GLUL	100.00	0	No comment
  GLYCTK	100.00	0	No comment
  GM2A	100.00	0	No comment
  GMPPA	100.00	0	No comment
  GMPPB	100.00	0	No comment
  GNAO1	100.00	0	No comment
  GNAQ	100.00	0	No comment
  GNAS	98.96	0	No comment
  GNPAT	100.00	0	No comment
  GNPTAB	100.00	0	No comment
  GNPTG	94.69	0	No comment
  GNRHR	100.00	0	No comment
  GNS	100.00	0	No comment
  GORASP2	99.92	0	No comment
  GP1BB	25.16	0	No comment
  GPC3	100.00	0	No comment
  GPHN	100.00	0	No comment
  GPR37	100.00	0	No comment
  GPT2	96.29	0	No comment
  GRIA3	100.00	0	No comment
  GRID2	100.00	0	No comment
  GRIK2	100.00	0	No comment
  GRIN1	99.97	0	No comment
  GRIN2A	100.00	0	No comment
  GRIN2B	100.00	0	No comment
  GRIN3B	86.11	0	No comment
  GRM1	100.00	0	No comment
  GSE1	99.97	0	No comment
  GSPT2	100.00	0	No comment
  GSS	100.00	0	No comment
  GTF2H5	100.00	0	No comment
  GTF2IRD1	100.00	0	No comment
  GTF3C1	100.00	0	No comment
  GUSB	100.00	0	No comment
  GYS2	100.00	0	No comment
  HAL	100.00	0	No comment
  HAX1	100.00	0	No comment
  HCCS	100.00	0	No comment
  HCFC1	100.00	0	No comment
  HCN1	95.88	0	No comment
  HDAC4	100.00	0	No comment
  HDAC6	100.00	0	No comment
  HDAC8	100.00	0	No comment
  HDAC9	100.00	0	No comment
  HECTD1	100.00	0	No comment
  HECW2	100.00	0	No comment
  HEPACAM	96.82	0	No comment
  HERC1	100.00	0	No comment
  HERC2	99.62	0	No comment
  HESX1	100.00	0	No comment
  HEXA	100.00	0	No comment
  HEXB	99.82	0	No comment
  H4C2	100.00	0	No comment
  HIVEP2	100.00	0	No comment
  HLCS	100.00	0	No comment
  HMGA2	81.94	0	No comment
  HNRNPU	99.54	0	No comment
  HNRNPUL1	99.73	0	No comment
  HOXA1	100.00	0	No comment
  HOXB1	100.00	0	No comment
  HOXD10	100.00	0	No comment
  HPD	100.00	0	No comment
  HPRT1	94.60	0	No comment
  HRAS	100.00	0	No comment
  HSD17B10	100.00	0	No comment
  HSPA4	100.00	0	No comment
  HSPD1	99.53	0	No comment
  HTR2A	100.00	0	No comment
  HUWE1	100.00	0	No comment
  IDH2	92.01	0	No comment
  IDS	100.00	0	No comment
  IDUA	88.67	0	No comment
  IER3IP1	99.93	0	No comment
  IFT172	100.00	0	No comment
  IGBP1	100.00	0	No comment
  IGF1	100.00	0	No comment
  IGF1R	100.00	0	No comment
  IKBKG	99.74	0	No comment
  IL1RAPL1	100.00	0	No comment
  ILF2	100.00	0	No comment
  INPP5E	99.54	0	No comment
  INSR	97.31	0	No comment
  IQSEC2	99.73	0	No comment
  IRS1	100.00	0	No comment
  IRX5	94.92	0	No comment
  ITGA7	100.00	0	No comment
  ITGB3	97.94	0	No comment
  ITPR1	100.00	0	No comment
  JADE2	100.00	0	No comment
  JAG1	99.66	0	No comment
  JAM3	100.00	0	No comment
  JUP	100.00	0	No comment
  KANK1	100.00	0	No comment
  KANSL1	100.00	0	No comment
  KAT6A	100.00	0	No comment
  KAT6B	100.00	0	No comment
  KATNAL2	100.00	0	No comment
  KCNA1	100.00	0	No comment
  KCNH1	100.00	0	No comment
  KCNJ10	100.00	0	No comment
  KCNJ11	100.00	0	No comment
  KCNK9	100.00	0	No comment
  KCNMA1	99.94	0	No comment
  KCNQ2	99.98	0	No comment
  KCNQ3	96.44	0	No comment
  KCNQ4	92.42	0	No comment
  KCNT1	99.74	0	No comment
  KCTD7	97.35	0	No comment
  KDM5A	100.00	0	No comment
  KDM5B	100.00	0	No comment
  KDM5C	100.00	0	No comment
  KDM6A	100.00	0	No comment
  KDM6B	99.91	0	No comment
  BLTP1	100.00	0	No comment
  KIF11	100.00	0	No comment
  KIF1A	99.90	0	No comment
  KIFBP	100.00	0	No comment
  KIF21A	99.23	0	No comment
  KIF2A	98.88	0	No comment
  KIF4A	100.00	0	No comment
  KIF5A	100.00	0	No comment
  KIF5C	100.00	0	No comment
  KIF7	96.94	0	No comment
  KIRREL3	100.00	0	No comment
  KIT	100.00	0	No comment
  KLC2	100.00	0	No comment
  KLF8	100.00	0	No comment
  KMT2A	98.66	0	No comment
  KMT2C	100.00	0	No comment
  KMT2D	100.00	0	No comment
  KMT2E	100.00	0	No comment
  KMT5B	100.00	0	No comment
  KPTN	100.00	0	No comment
  KRAS	100.00	0	No comment
  KRBOX4	100.00	0	No comment
  KRT24	100.00	0	No comment
  L1CAM	100.00	0	No comment
  L2HGDH	99.96	0	No comment
  LAMA1	99.93	0	No comment
  LAMA2	100.00	0	No comment
  LAMB1	100.00	0	No comment
  LAMC3	97.51	0	No comment
  LAMP2	100.00	0	No comment
  LARGE1	100.00	0	No comment
  LARP7	100.00	0	No comment
  LAS1L	100.00	0	No comment
  LBR	100.00	0	No comment
  LCT	100.00	0	No comment
  LHX3	94.36	0	No comment
  LIG4	100.00	0	No comment
  LINS1	100.00	0	No comment
  LMBRD1	100.00	0	No comment
  LRP1	100.00	0	No comment
  LRP2	99.96	0	No comment
  LRP5	97.87	0	No comment
  LRPPRC	99.14	0	No comment
  LRRC7	100.00	0	No comment
  LYST	100.00	0	No comment
  MACF1	100.00	0	No comment
  MAGEL2	99.43	0	No comment
  MAGT1	100.00	0	No comment
  MAN1B1	99.99	0	No comment
  MAN2B1	100.00	0	No comment
  MANBA	99.97	0	No comment
  MAOA	99.95	0	No comment
  MAP2	100.00	0	No comment
  MAP2K1	100.00	0	No comment
  MAP2K2	99.98	0	No comment
  MAPK1	93.93	0	No comment
  MAPT	100.00	0	No comment
  MAT1A	100.00	0	No comment
  MBD3	99.22	0	No comment
  MBD5	100.00	0	No comment
  MBTPS2	100.00	0	No comment
  MCCC1	100.00	0	No comment
  MCCC2	99.99	0	No comment
  MCOLN1	97.27	0	No comment
  MCPH1	100.00	0	No comment
  MDM2	100.00	0	No comment
  MECP2	98.28	0	No comment
  MED12	99.96	0	No comment
  MED13L	100.00	0	No comment
  MED17	100.00	0	No comment
  MED23	100.00	0	No comment
  MEF2C	100.00	0	No comment
  MET	100.00	0	No comment
  METTL23	100.00	0	No comment
  MFRP	100.00	0	No comment
  MFSD8	100.00	0	No comment
  MGAT2	100.00	0	No comment
  MIB1	100.00	0	No comment
  MID1	100.00	0	No comment
  MID2	100.00	0	No comment
  MIR222	100.00	0	No comment
  MKKS	100.00	0	No comment
  MLH1	100.00	0	No comment
  MLYCD	85.50	0	No comment
  MMAA	100.00	0	No comment
  MMACHC	100.00	0	No comment
  MMADHC	100.00	0	No comment
  MMUT	100.00	0	No comment
  MOCS1	99.95	0	No comment
  MOCS2	100.00	0	No comment
  MOGS	98.73	0	No comment
  MPDU1	100.00	0	No comment
  MPDZ	100.00	0	No comment
  MPHOSPH8	100.00	0	No comment
  MPI	100.00	0	No comment
  MPLKIP	100.00	0	No comment
  MPZ	100.00	0	No comment
  MRAP	100.00	0	No comment
  MRPS22	100.00	0	No comment
  MSH6	100.00	0	No comment
  MTFMT	99.11	0	No comment
  MTHFR	100.00	0	No comment
  MTHFS	99.64	0	No comment
  MTM1	100.00	0	No comment
  MTMR2	100.00	0	No comment
  MTR	100.00	0	No comment
  MTRR	100.00	0	No comment
  MVK	100.00	0	No comment
  MYCN	86.70	0	No comment
  MYH7B	100.00	0	No comment
  MYH9	100.00	0	No comment
  MYO1E	99.92	0	No comment
  MYO3A	100.00	0	No comment
  MYO5A	99.60	0	No comment
  MYO7A	100.00	0	No comment
  MYOC	100.00	0	No comment
  MYT1L	100.00	0	No comment
  NAA10	96.03	0	No comment
  NAA15	100.00	0	No comment
  NAGA	100.00	0	No comment
  NAGLU	87.38	0	No comment
  NALCN	100.00	0	No comment
  NBN	100.00	0	No comment
  NCKAP1	100.00	0	No comment
  NDE1	100.00	0	No comment
  NDP	100.00	0	No comment
  NDST1	100.00	0	No comment
  NDUFA1	100.00	0	No comment
  NDUFA11	98.06	0	No comment
  NDUFA12	100.00	0	No comment
  NDUFAF5	100.00	0	No comment
  NDUFS1	100.00	0	No comment
  NDUFS2	100.00	0	No comment
  NDUFS3	100.00	0	No comment
  NDUFS4	100.00	0	No comment
  NDUFS7	99.49	0	No comment
  NDUFS8	100.00	0	No comment
  NDUFV1	100.00	0	No comment
  NECTIN1	100.00	0	No comment
  NEDD4L	100.00	0	No comment
  NEU1	100.00	0	No comment
  NEXMIF	100.00	0	No comment
  NF1	99.95	0	No comment
  NFATC1	99.84	0	No comment
  NFIA	100.00	0	No comment
  NFIX	97.15	0	No comment
  NGF	100.00	0	No comment
  NHEJ1	100.00	0	No comment
  NHP2	100.00	0	No comment
  NHS	93.25	0	No comment
  NIPBL	99.98	0	No comment
  NKX2-1	92.46	0	No comment
  NLGN1	100.00	0	No comment
  NLGN3	100.00	0	No comment
  NLGN4X	100.00	0	No comment
  NLGN4Y	55.32	0	No comment
  NOG	100.00	0	No comment
  NOTCH3	92.99	0	No comment
  NPC1	98.40	0	No comment
  NPC2	100.00	0	No comment
  NPHP1	100.00	0	No comment
  NPHP3	99.87	0	No comment
  NR2F1	92.00	0	No comment
  NR3C2	100.00	0	No comment
  NR4A2	100.00	0	No comment
  NRAS	100.00	0	No comment
  NRCAM	100.00	0	No comment
  NRXN1	98.52	0	No comment
  NRXN2	88.11	0	No comment
  NSD1	100.00	0	No comment
  NSD2	100.00	0	No comment
  NSDHL	100.00	0	No comment
  NSUN2	99.70	0	No comment
  NTRK1	98.72	0	No comment
  NTRK2	100.00	0	No comment
  NUAK1	99.97	0	No comment
  NUS1	100.00	0	No comment
  NXF5	100.00	0	No comment
  OBSL1	98.31	0	No comment
  OCA2	100.00	0	No comment
  OCLN	100.00	0	No comment
  OCRL	99.77	0	No comment
  OFD1	99.88	0	No comment
  OPHN1	100.00	0	No comment
  SLC25A15	100.00	0	No comment
  OTC	100.00	0	No comment
  OXTR	91.19	0	No comment
  PACS1	96.93	0	No comment
  PAFAH1B1	100.00	0	No comment
  PAH	99.94	0	No comment
  PAK3	100.00	0	No comment
  PANK2	98.60	0	No comment
  PARP1	100.00	0	No comment
  PAX1	89.02	0	No comment
  PAX5	100.00	0	No comment
  PAX6	100.00	0	No comment
  PAX8	100.00	0	No comment
  PBRM1	100.00	0	No comment
  PODXL	100.00	0	No comment
  PCDH10	100.00	0	No comment
  PCDH19	99.91	0	No comment
  PCGF2	100.00	0	No comment
  PCNT	100.00	0	No comment
  PDE1C	100.00	0	No comment
  PDE4D	98.77	0	No comment
  PDE8B	96.32	0	No comment
  PDHA1	98.17	0	No comment
  PDHX	99.87	0	No comment
  PDSS1	86.24	0	No comment
  PDSS2	100.00	0	No comment
  PEPD	99.77	0	No comment
  PER2	100.00	0	No comment
  PEX1	100.00	0	No comment
  PEX10	88.47	0	No comment
  PEX11B	100.00	0	No comment
  PEX12	100.00	0	No comment
  PEX13	100.00	0	No comment
  PEX16	100.00	0	No comment
  PEX19	100.00	0	No comment
  PEX2	100.00	0	No comment
  PEX26	100.00	0	No comment
  PEX3	100.00	0	No comment
  PEX5	100.00	0	No comment
  PEX6	98.56	0	No comment
  PEX7	91.13	0	No comment
  PGA5	100.00	0	No comment
  PGAP1	100.00	0	No comment
  PGAP2	100.00	0	No comment
  PGAP3	99.90	0	No comment
  PGK1	100.00	0	No comment
  PHF2	99.71	0	No comment
  PHF21A	100.00	0	No comment
  PHF6	100.00	0	No comment
  PHF8	100.00	0	No comment
  PHGDH	100.00	0	No comment
  PHIP	99.09	0	No comment
  PHKA2	100.00	0	No comment
  PHKG2	100.00	0	No comment
  PIAS1	100.00	0	No comment
  PIGA	100.00	0	No comment
  PIGL	100.00	0	No comment
  PIGN	100.00	0	No comment
  PIGO	100.00	0	No comment
  PIGT	100.00	0	No comment
  PIGV	100.00	0	No comment
  PIK3R2	89.19	0	No comment
  PLA2G6	100.00	0	No comment
  PLCB1	100.00	0	No comment
  PLP1	100.00	0	No comment
  PMM2	100.00	0	No comment
  PNKP	100.00	0	No comment
  PNP	100.00	0	No comment
  POC1A	99.95	0	No comment
  POGZ	100.00	0	No comment
  POLG	100.00	0	No comment
  POLR2M	100.00	0	No comment
  POLR3A	100.00	0	No comment
  POLR3B	100.00	0	No comment
  POMGNT1	100.00	0	No comment
  POMGNT2	100.00	0	No comment
  POMT1	100.00	0	No comment
  POMT2	99.90	0	No comment
  PORCN	100.00	0	No comment
  POT1	100.00	0	No comment
  POU1F1	100.00	0	No comment
  POU3F4	100.00	0	No comment
  PPM1D	100.00	0	No comment
  HCRT	100.00	0	No comment
  PPP1R1B	100.00	0	No comment
  PPP2R1A	100.00	0	No comment
  PPP2R5D	100.00	0	No comment
  PPT1	100.00	0	No comment
  PQBP1	100.00	0	No comment
  PRICKLE1	100.00	0	No comment
  PRKAR1A	100.00	0	No comment
  PRKRA	90.07	0	No comment
  PRODH	86.43	0	No comment
  PRPS1	100.00	0	No comment
  PRRT2	100.00	0	No comment
  PRSS12	99.65	0	No comment
  PSAP	100.00	0	No comment
  PSEN1	100.00	0	No comment
  PTCH1	98.48	0	No comment
  PTCHD1	99.99	0	No comment
  PTDSS1	100.00	0	No comment
  PTEN	98.86	0	No comment
  PTHLH	100.00	0	No comment
  PTPN11	98.80	0	No comment
  PUF60	99.86	0	No comment
  PURA	85.32	0	No comment
  PUS1	99.08	0	No comment
  PYCR1	100.00	0	No comment
  PYGL	100.00	0	No comment
  RAB11A	100.00	0	No comment
  RAB18	100.00	0	No comment
  RAB27A	100.00	0	No comment
  RAB39B	100.00	0	No comment
  RAB3GAP1	100.00	0	No comment
  RAB3GAP2	100.00	0	No comment
  RAB40AL	100.00	0	No comment
  RABL6	99.93	0	No comment
  RAC1	93.90	0	No comment
  RAD21	100.00	0	No comment
  RAF1	100.00	0	No comment
  RAI1	96.06	0	No comment
  RALGDS	94.60	0	No comment
  RANBP17	98.90	0	No comment
  RAPSN	100.00	0	No comment
  RARS2	100.00	0	No comment
  RASGEF1B	100.00	0	No comment
  RBBP8	100.00	0	No comment
  RBFOX1	99.94	0	No comment
  RBL2	99.65	0	No comment
  RBM10	100.00	0	No comment
  RBM28	99.99	0	No comment
  RELN	99.96	0	No comment
  RERE	99.97	0	No comment
  RFT1	100.00	0	No comment
  RFX3	100.00	0	No comment
  RFX6	100.00	0	No comment
  RIC8A	100.00	0	No comment
  RIMS1	99.79	0	No comment
  RIT1	100.00	0	No comment
  RMND1	100.00	0	No comment
  RMRP	100.00	0	No comment
  RNASEH2A	100.00	0	No comment
  RNASEH2B	95.67	0	No comment
  RNASEH2C	100.00	0	No comment
  RNASET2	99.98	0	No comment
  RNF213	100.00	0	No comment
  ROGDI	91.80	0	No comment
  RP2	100.00	0	No comment
  RPGRIP1L	96.45	0	No comment
  RPL15	100.00	0	No comment
  RPS6KA2	98.15	0	No comment
  RPS6KA3	98.71	0	No comment
  RTEL1	100.00	0	No comment
  RTN2	99.98	0	No comment
  RUBCN	97.68	0	No comment
  RUNX1	99.96	0	No comment
  RUVBL1	100.00	0	No comment
  RYR1	98.38	0	No comment
  RYR2	100.00	0	No comment
  S100G	100.00	0	No comment
  SACS	99.97	0	No comment
  SALL1	100.00	0	No comment
  SAMHD1	100.00	0	No comment
  SARS2	100.00	0	No comment
  SATB2	100.00	0	No comment
  SBF1	98.81	0	No comment
  SC5D	100.00	0	No comment
  SCAPER	100.00	0	No comment
  SCN1A	100.00	0	No comment
  SCN2A	100.00	0	No comment
  SCN7A	100.00	0	No comment
  SCN8A	100.00	0	No comment
  SCN9A	100.00	0	No comment
  SCO2	100.00	0	No comment
  SDCCAG8	100.00	0	No comment
  SDHA	98.02	0	No comment
  SDK1	95.93	0	No comment
  SERAC1	100.00	0	No comment
  SERPINB12	100.00	0	No comment
  SETBP1	99.99	0	No comment
  SETD5	100.00	0	No comment
  NR5A1	86.69	0	No comment
  SFPQ	98.66	0	No comment
  SGCA	100.00	0	No comment
  SGSH	99.99	0	No comment
  SHANK1	96.45	0	No comment
  SHANK2	100.00	0	No comment
  SHANK3	83.99	0	No comment
  SHH	92.83	0	No comment
  SHOC2	100.00	0	No comment
  SHOX	90.47	0	No comment
  SHROOM4	100.00	0	No comment
  SIL1	100.00	0	No comment
  SIN3A	99.82	0	No comment
  SIX3	99.59	0	No comment
  HHAT	90.28	0	No comment
  SLC12A6	100.00	0	No comment
  SLC16A2	100.00	0	No comment
  SLC17A5	100.00	0	No comment
  SLC1A1	100.00	0	No comment
  SLC1A4	97.95	0	No comment
  SLC20A2	100.00	0	No comment
  SLC24A2	100.00	0	No comment
  SLC25A1	93.77	0	No comment
  SLC25A12	100.00	0	No comment
  SLC25A13	99.94	0	No comment
  SLC25A22	100.00	0	No comment
  SLC25A24	99.82	0	No comment
  SLC26A9	100.00	0	No comment
  SLC2A1	99.94	0	No comment
  SLC2A2	100.00	0	No comment
  SLC33A1	100.00	0	No comment
  SLC35A2	100.00	0	No comment
  SLC35C1	100.00	0	No comment
  SLC46A1	99.95	0	No comment
  SLC4A4	100.00	0	No comment
  SLC5A2	100.00	0	No comment
  SLC5A5	100.00	0	No comment
  SLC6A1	100.00	0	No comment
  SLC6A17	100.00	0	No comment
  SLC6A3	100.00	0	No comment
  SLC6A4	100.00	0	No comment
  SLC6A8	98.78	0	No comment
  SLC7A7	100.00	0	No comment
  SLC9A6	99.96	0	No comment
  SLC9A9	100.00	0	No comment
  SLCO1B1	100.00	0	No comment
  SLCO1B3	100.00	0	No comment
  SLX4	100.00	0	No comment
  SMAD2	100.00	0	No comment
  SMAD4	100.00	0	No comment
  SMARCA2	98.07	0	No comment
  SMARCA4	100.00	0	No comment
  SMARCB1	100.00	0	No comment
  SMARCC2	100.00	0	No comment
  SMARCE1	100.00	0	No comment
  SMC1A	100.00	0	No comment
  SMC3	100.00	0	No comment
  SMG6	97.90	0	No comment
  SMOC1	99.36	0	No comment
  SMPD1	100.00	0	No comment
  SNAP29	100.00	0	No comment
  SNIP1	100.00	0	No comment
  SNX14	100.00	0	No comment
  SNX19	100.00	0	No comment
  SOBP	87.96	0	No comment
  SOS1	100.00	0	No comment
  SOX10	96.79	0	No comment
  SOX11	99.01	0	No comment
  SOX2	98.05	0	No comment
  SOX3	85.62	0	No comment
  SOX5	100.00	0	No comment
  SPAST	100.00	0	No comment
  SPG11	100.00	0	No comment
  SPG7	96.56	0	No comment
  SPR	96.81	0	No comment
  SPRED1	100.00	0	No comment
  SPTAN1	100.00	0	No comment
  SPTLC1	99.99	0	No comment
  SRCAP	100.00	0	No comment
  SRD5A3	99.42	0	No comment
  SREBF2	100.00	0	No comment
  SRGAP3	100.00	0	No comment
  SRPX2	100.00	0	No comment
  ST3GAL3	100.00	0	No comment
  ST3GAL5	92.64	0	No comment
  STAG1	100.00	0	No comment
  STAT5B	100.00	0	No comment
  STIL	100.00	0	No comment
  STRA6	100.00	0	No comment
  STS	100.00	0	No comment
  STT3A	100.00	0	No comment
  STT3B	99.25	0	No comment
  STX11	100.00	0	No comment
  STXBP1	100.00	0	No comment
  STXBP5	100.00	0	No comment
  SUCLA2	100.00	0	No comment
  SUCLG1	95.74	0	No comment
  SUOX	100.00	0	No comment
  SUPT16H	100.00	0	No comment
  SURF1	87.74	0	No comment
  SYN1	95.92	0	No comment
  SYNE1	100.00	0	No comment
  SYNGAP1	100.00	0	No comment
  SYP	99.27	0	No comment
  SYT14	93.04	0	No comment
  SYT3	100.00	0	No comment
  TAF1	100.00	0	No comment
  TAF2	100.00	0	No comment
  TAT	100.00	0	No comment
  TBC1D24	100.00	0	No comment
  TBC1D7	100.00	0	No comment
  TBCE	100.00	0	No comment
  TBR1	94.13	0	No comment
  TBX1	77.39	0	No comment
  TCF20	100.00	0	No comment
  TCF3	100.00	0	No comment
  TCF4	100.00	0	No comment
  TCF7L2	99.98	0	No comment
  TECR	100.00	0	No comment
  TENM1	100.00	0	No comment
  TFAP2A	100.00	0	No comment
  TGFBR1	92.91	0	No comment
  TGFBR2	100.00	0	No comment
  TGIF1	100.00	0	No comment
  TGM1	100.00	0	No comment
  TH	99.95	0	No comment
  THOC2	99.99	0	No comment
  THOC6	100.00	0	No comment
  THRA	100.00	0	No comment
  THRB	100.00	0	No comment
  TIMM8A	100.00	0	No comment
  TINF2	100.00	0	No comment
  TMCO1	100.00	0	No comment
  TMEM107	100.00	0	No comment
  TMEM135	100.00	0	No comment
  TMEM165	89.91	0	No comment
  TMEM216	100.00	0	No comment
  TMEM231	100.00	0	No comment
  TMEM237	99.97	0	No comment
  TMEM67	100.00	0	No comment
  TMEM70	100.00	0	No comment
  TMLHE	100.00	0	No comment
  TNK2	100.00	0	No comment
  TNRC6B	100.00	0	No comment
  TOPORS	100.00	0	No comment
  TOR1A	99.99	0	No comment
  TDO2	100.00	0	No comment
  TPK1	100.00	0	No comment
  THPO	99.84	0	No comment
  ACD	100.00	0	No comment
  TRAPPC10	99.93	0	No comment
  TRAPPC11	100.00	0	No comment
  TRAPPC9	99.98	0	No comment
  TREX1	100.00	0	No comment
  TRHR	100.00	0	No comment
  TRIM10	100.00	0	No comment
  TRIM3	100.00	0	No comment
  TRIM32	100.00	0	No comment
  TRIO	97.46	0	No comment
  TRIP12	100.00	0	No comment
  TRMT1	100.00	0	No comment
  TRMT10A	100.00	0	No comment
  TRPM6	100.00	0	No comment
  TRPV4	100.00	0	No comment
  TSC1	100.00	0	No comment
  TSC2	100.00	0	No comment
  TSEN54	94.23	0	No comment
  TSHR	100.00	0	No comment
  TSPAN7	99.99	0	No comment
  TSPOAP1	99.98	0	No comment
  SKIC3	100.00	0	No comment
  TTC8	100.00	0	No comment
  TTI1	100.00	0	No comment
  TTI2	100.00	0	No comment
  TTR	100.00	0	No comment
  TUBA1A	100.00	0	No comment
  TUBA8	100.00	0	No comment
  TUBB2B	100.00	0	No comment
  TUBB3	98.24	0	No comment
  TUBGCP6	100.00	0	No comment
  TUSC3	100.00	0	No comment
  TWIST1	70.93	0	No comment
  UBE2A	99.62	0	No comment
  UBE3A	100.00	0	No comment
  UBE3B	100.00	0	No comment
  UBR1	100.00	0	No comment
  UBTF	100.00	0	No comment
  UPB1	100.00	0	No comment
  UPF3B	100.00	0	No comment
  UROC1	100.00	0	No comment
  USP9X	100.00	0	No comment
  UTP6	100.00	0	No comment
  VCP	98.45	0	No comment
  VLDLR	96.53	0	No comment
  VPS13B	99.25	0	No comment
  VPS39	100.00	0	No comment
  VPS4A	100.00	0	No comment
  VRK1	100.00	0	No comment
  WAC	100.00	0	No comment
  WASHC4	99.72	0	No comment
  WDFY3	100.00	0	No comment
  WDR11	100.00	0	No comment
  WDR13	100.00	0	No comment
  WDR19	100.00	0	No comment
  WDR26	100.00	0	No comment
  WDR45	100.00	0	No comment
  WDR45B	100.00	0	No comment
  WDR62	100.00	0	No comment
  WDR81	99.97	0	No comment
  WNT2	100.00	0	No comment
  WRN	100.00	0	No comment
  WWOX	100.00	0	No comment
  XPA	99.35	0	No comment
  XPNPEP3	93.18	0	No comment
  XPO5	100.00	0	No comment
  XYLT1	88.83	0	No comment
  YAP1	96.50	0	No comment
  YEATS2	100.00	0	No comment
  YWHAE	98.69	0	No comment
  YY1	99.92	0	No comment
  ZBTB16	100.00	0	No comment
  ZBTB18	100.00	0	No comment
  ZBTB20	100.00	0	No comment
  ZBTB24	100.00	0	No comment
  ZC3H14	100.00	0	No comment
  ZC3H4	99.94	0	No comment
  ZCCHC12	100.00	0	No comment
  ZDHHC15	100.00	0	No comment
  ZDHHC9	100.00	0	No comment
  ZEB2	100.00	0	No comment
  ZFHX4	100.00	0	No comment
  ZFP57	100.00	0	No comment
  ZFYVE26	100.00	0	No comment
  ZIC2	80.54	0	No comment
  ZMYM3	100.00	0	No comment
  ZMYND11	100.00	0	No comment
  ZNF292	100.00	0	No comment
  ZNF407	100.00	0	No comment
  ZNF41	100.00	0	No comment
  ZNF526	100.00	0	No comment
  ZNF559	100.00	0	No comment
  ZNF592	100.00	0	No comment
  ZNF594	100.00	0	No comment
  ZNF599	100.00	0	No comment
  ZNF674	100.00	0	No comment
  ZNF697	95.04	0	No comment
  ZNF711	100.00	0	No comment
  ZNF774	100.00	0	No comment
  ZNF8	100.00	0	No comment
  ZNF81	100.00	0	No comment
  ZNF827	100.00	0	No comment

• Neuromuscular disorders (166 genes) - VUB
  Details

  Gene	% of coding sequence sufficiently covered to detect heterozygous mutations	Copy number variation	Comments
  ACADVL	0.00	0	No value for column 2
  ACTA1	0.00	0	No value for column 2
  AGRN	0.00	0	No value for column 2
  ALDOA	0.00	0	No value for column 2
  ALG14	0.00	0	No value for column 2
  ALG2	99.94	0	No comment
  ALS2	100.00	0	No comment
  ANG	100.00	0	No comment
  ANO5	100.00	0	No comment
  ASAH1	99.94	0	No comment
  ATP7A	100.00	0	No comment
  ATXN2	89.10	0	No comment
  B3GALNT2	85.88	0	No comment
  B4GAT1	100.00	0	No comment
  BAG3	100.00	0	No comment
  BICD2	100.00	0	No comment
  BIN1	100.00	0	No comment
  BSCL2	100.00	0	No comment
  C9ORF72	100.00	0	No comment
  CAV3	100.00	0	No comment
  CFL2	99.75	0	No comment
  CHAT	100.00	0	No comment
  CHKB	99.69	0	No comment
  CHRNA1	100.00	0	No comment
  CHRNB1	100.00	0	No comment
  CHRND	100.00	0	No comment
  CHRNE	100.00	0	No comment
  CHRNG	100.00	0	No comment
  COL6A1	100.00	0	No comment
  COL6A2	100.00	0	No comment
  COL6A3	100.00	0	No comment
  COLQ	100.00	0	No comment
  CPT2	98.71	0	No comment
  CRPPA	95.75	0	No comment
  CRYAB	100.00	0	No comment
  DAG1	100.00	0	No comment
  DAO	100.00	0	No comment
  DCTN1	100.00	0	No comment
  DES	100.00	0	No comment
  DGUOK	100.00	0	No comment
  DMD	100.00	0	No comment
  DNAJB2	100.00	0	No comment
  DNAJB6	99.34	0	No comment
  DNM2	99.95	0	No comment
  DOK7	98.77	0	No comment
  DOLK	100.00	0	No comment
  DPAGT1	100.00	0	No comment
  DPM1	100.00	0	No comment
  DPM2	100.00	0	No comment
  DPM3	100.00	0	No comment
  DYNC1H1	100.00	0	No comment
  DYSF	100.00	0	No comment
  ECEL1	95.92	0	No comment
  EMD	99.84	0	No comment
  ENO3	100.00	0	No comment
  ETFA	100.00	0	No comment
  ETFB	100.00	0	No comment
  ETFDH	100.00	0	No comment
  EXOSC3	100.00	0	No comment
  FBLN5	100.00	0	No comment
  FBXO38	100.00	0	No comment
  FDX2	100.00	0	No comment
  CFH	100.00	0	No comment
  FKRP	98.68	0	No comment
  FKTN	100.00	0	No comment
  FLNC	100.00	0	No comment
  FUS	100.00	0	No comment
  GAA	100.00	0	No comment
  GARS1	99.53	0	No comment
  GFPT1	99.98	0	No comment
  GLE1	100.00	0	No comment
  GMPPB	100.00	0	No comment
  GNE	100.00	0	No comment
  GRN	100.00	0	No comment
  HADHA	100.00	0	No comment
  HADHB	100.00	0	No comment
  HARS1	100.00	0	No comment
  HEXB	99.82	0	No comment
  HNRNPA1	99.61	0	No comment
  HNRNPA2B1	100.00	0	No comment
  HSPB1	100.00	0	No comment
  HSPB3	100.00	0	No comment
  HSPB8	100.00	0	No comment
  IGHMBP2	100.00	0	No comment
  ISCU	99.39	0	No comment
  KBTBD13	97.91	0	No comment
  KLHL40	100.00	0	No comment
  KLHL9	100.00	0	No comment
  LAMA2	100.00	0	No comment
  LAMB2	100.00	0	No comment
  LARGE1	100.00	0	No comment
  LAS1L	100.00	0	No comment
  LDB3	100.00	0	No comment
  LMNA	99.93	0	No comment
  LPIN1	100.00	0	No comment
  CORIN	98.90	0	No comment
  MATR3	100.00	0	No comment
  MEGF10	100.00	0	No comment
  MTM1	100.00	0	No comment
  MUSK	100.00	0	No comment
  MYBPC3	100.00	0	No comment
  MYH7B	100.00	0	No comment
  MYH3	100.00	0	No comment
  MYH7	100.00	0	No comment
  MYH8	100.00	0	No comment
  MYOT	100.00	0	No comment
  NEB	99.99	0	No comment
  NEFH	84.73	0	No comment
  OPTN	100.00	0	No comment
  PABPN1	91.84	0	No comment
  PFKM	100.00	0	No comment
  PFN1	100.00	0	No comment
  PGAM2	100.00	0	No comment
  PGK1	100.00	0	No comment
  PGM1	100.00	0	No comment
  PHKA1	100.00	0	No comment
  PHKB	100.00	0	No comment
  PLEC	99.82	0	No comment
  PLEKHG5	99.10	0	No comment
  POLG	100.00	0	No comment
  POMGNT1	100.00	0	No comment
  POMGNT2	100.00	0	No comment
  POMK	100.00	0	No comment
  POMT1	100.00	0	No comment
  POMT2	99.90	0	No comment
  PREPL	100.00	0	No comment
  PYGM	100.00	0	No comment
  QDPR	99.04	0	No comment
  RAPSN	100.00	0	No comment
  REEP1	97.37	0	No comment
  RXYLT1	99.84	0	No comment
  RYR1	98.38	0	No comment
  SCN4A	100.00	0	No comment
  SELENON	84.04	0	No comment
  SETX	100.00	0	No comment
  SIGMAR1	96.60	0	No comment
  SIL1	100.00	0	No comment
  SLC18A3	100.00	0	No comment
  SLC52A2	100.00	0	No comment
  SLC52A3	100.00	0	No comment
  SLC5A7	100.00	0	No comment
  SMN1	96.55	0	No comment
  SNAP25	100.00	0	No comment
  SOD1	100.00	0	No comment
  SQSTM1	93.68	0	No comment
  SYT2	100.00	0	No comment
  TAF15	100.00	0	No comment
  TARDBP	100.00	0	No comment
  TFG	100.00	0	No comment
  TIA1	100.00	0	No comment
  TNNI2	100.00	0	No comment
  TNNT1	98.58	0	No comment
  TNNT3	100.00	0	No comment
  TNPO3	100.00	0	No comment
  TPM2	100.00	0	No comment
  TPM3	99.55	0	No comment
  TRPV4	100.00	0	No comment
  TSEN54	94.23	0	No comment
  TTN	100.00	0	No comment
  UBA1	100.00	0	No comment
  UBQLN2	99.88	0	No comment
  UNC13A	99.87	0	No comment
  VAPB	100.00	0	No comment
  VCP	98.45	0	No comment
  VEGFA	98.73	0	No comment
  VRK1	100.00	0	No comment

• Obesitas, early onset (8 genes) - VUB
  Details

  Gene	% of coding sequence sufficiently covered to detect heterozygous mutations	Copy number variation	Comments
  MC4R	100.00	0
  MC3R	100.00	0
  LEP	100.00	0
  LEPR	94.67	0
  PCSK1	100.00	0
  POMC	100.00	0
  SIM1	100.00	0
  NTRK2	100.00	0

• Premature Ovarian Failure/Insufficiency (32 genes) - VUB
  Details

  Gene	% of coding sequence sufficiently covered to detect heterozygous mutations	Copy number variation	Comments
  AFF2	100.00	0
  AMH	75.52	0
  AMHR2	100.00	0
  BMP15	100.00	0
  DACH2	99.75	0
  DAZL	100.00	0
  DIAPH2	100.00	0
  DMC1	100.00	0
  ESR1	99.95	0
  FIGLA	98.07	0
  FMR1	100.00	0
  FOXL2	85.42	0
  FOXO1	86.72	0
  FOXO3	99.72	0
  FSHR	100.00	0
  GDF9	100.00	0
  GPR3	100.00	0
  HFM1	100.00	0
  INHA	100.00	0
  LHCGR	99.37	0
  MCM8	97.95	0
  MSH5	99.82	-2
  NOBOX	100.00	0
  NR5A1	100.00	0
  PATL2	100.00	0
  PGRMC1	100.00	0
  POF1B	100.00	0
  SOHLH1	100.00	0
  SOHLH2	96.06	0
  STAG3	99.70	0
  TGFBR3	100.00	0
  XPNPEP2	100.00	0

• Primary cardiac arrhythmias (113 genes) - VUB
  Details

  Gene	% of coding sequence sufficiently covered to detect heterozygous mutations	Copy number variation	Comments
  ABCC9	100.00	0	No comment
  ACTN2	100.00	0	No comment
  ADRB1	78.34	0	No comment
  ADRB2	100.00	0	No comment
  AGTR1	100.00	0	No comment
  AGXT2	100.00	0	No comment
  AKAP9	100.00	0	No comment
  ALG10B	100.00	0	No comment
  ANK2	100.00	0	No comment
  BAG3	100.00	0	No comment
  CACNA1C	100.00	0	No comment
  CACNA2D1	100.00	0	No comment
  CACNA2D4	99.99	0	No comment
  CACNB2	100.00	0	No comment
  CALM1	100.00	0	No comment
  CALM2	100.00	0	No comment
  CALM3	99.99	0	No comment
  CASQ2	100.00	0	No comment
  CAV3	100.00	0	No comment
  CIT	100.00	0	No comment
  CKMT2	100.00	0	No comment
  CRP	100.00	0	No comment
  CSRP3	100.00	0	No comment
  CTNNA3	100.00	0	No comment
  DEPDC5	99.62	0	No comment
  DPP6	96.95	0	No comment
  DSC3	98.44	0	No comment
  DSG2	99.61	0	No comment
  DSP	100.00	0	No comment
  EMD	99.84	0	No comment
  FGF12	100.00	0	No comment
  GATA4	80.69	0	No comment
  GATA5	97.28	0	No comment
  GATA6	81.11	0	No comment
  GJA5	100.00	0	No comment
  GPD1L	100.00	0	No comment
  HCN4	92.35	0	No comment
  HSPA1L	100.00	0	No comment
  JPH2	95.10	0	No comment
  JUP	100.00	0	No comment
  KCNA5	100.00	0	No comment
  KCNAB2	100.00	0	No comment
  KCNB2	100.00	0	No comment
  KCND3	100.00	0	No comment
  KCNE1	100.00	0	No comment
  KCNE2	100.00	0	No comment
  KCNE3	100.00	0	No comment
  KCNE4	100.00	0	No comment
  KCNE5	94.02	0	No comment
  KCNH2	94.44	0	No comment
  KCNJ16	100.00	0	No comment
  KCNJ2	100.00	0	No comment
  KCNJ5	100.00	0	No comment
  KCNJ8	100.00	0	No comment
  KCNK17	100.00	0	No comment
  KCNK3	95.81	0	No comment
  KCNQ1	91.07	0	No comment
  KCNT1	99.74	0	No comment
  KIF21B	100.00	0	No comment
  LMNA	99.93	0	No comment
  MYBPC3	100.00	0	No comment
  MYH6	100.00	0	No comment
  MYH7	100.00	0	No comment
  MYL4	100.00	0	No comment
  NAA10	96.03	0	No comment
  NKX2-5	100.00	0	No comment
  NKX2-6	100.00	0	No comment
  NOS1AP	100.00	0	No comment
  NPPA	100.00	0	No comment
  NUP155	100.00	0	No comment
  NUP37	100.00	0	No comment
  PI4KA	99.44	0	No comment
  PIK3CG	100.00	0	No comment
  PITX2	100.00	0	No comment
  PKP2	99.87	0	No comment
  PLN	100.00	0	No comment
  PRRX1	100.00	0	No comment
  RANGRF	100.00	0	No comment
  RBM20	99.82	0	No comment
  REM2	100.00	0	No comment
  RIMS1	99.79	0	No comment
  RNF207	99.91	0	No comment
  RYR1	98.38	0	No comment
  RYR2	100.00	0	No comment
  SCN10A	100.00	0	No comment
  SCN1B	94.12	0	No comment
  SCN2B	100.00	0	No comment
  SCN3B	100.00	0	No comment
  SCN4A	100.00	0	No comment
  SCN4B	100.00	0	No comment
  SCN5A	100.00	0	No comment
  SCNN1A	100.00	0	No comment
  SDHAF3	100.00	0	No comment
  SEMA3A	100.00	0	No comment
  SHOX2	99.15	0	No comment
  SIRT6	100.00	0	No comment
  SLC2A5	99.60	0	No comment
  SLC4A3	100.00	0	No comment
  SLMAP	100.00	0	No comment
  SNTA1	84.25	0	No comment
  TBX5	100.00	0	No comment
  TGFB2	100.00	0	No comment
  DDR2	97.72	0	No comment
  TNNI3	100.00	0	No comment
  TPM1	99.98	0	No comment
  TRDN	100.00	0	No comment
  TRPM4	100.00	0	No comment
  TTN	100.00	0	No comment
  UBR4	99.99	0	No comment
  UBR5	100.00	0	No comment
  WDR26	100.00	0	No comment
  XIRP1	100.00	0	No comment
  ZC3HC1	100.00	0	No comment

• Skeletal dysplasia (394 genes) - VUB
  Details

  Gene	% of coding sequence sufficiently covered to detect heterozygous mutations	Copy number variation	Comments
  ABCC9	100.00	0	No comment
  ABL1	100.00	0	No comment
  ACAN	98.89	0	No comment
  ACP4	100.00	0	No comment
  ACP5	100.00	0	No comment
  ACVR1	100.00	0	No comment
  ADAMTS10	99.88	0	No comment
  ADAMTS17	89.95	0	No comment
  ADAMTSL2	100.00	0	No comment
  AFF4	100.00	0	No comment
  AGA	100.00	0	No comment
  AGPS	100.00	0	No comment
  AHDC1	100.00	0	No comment
  AKT1	100.00	0	No comment
  ALPL	100.00	0	No comment
  ALX1	100.00	0	No comment
  ALX3	91.36	0	No comment
  ALX4	99.70	0	No comment
  AMER1	100.00	0	No comment
  ANKH	100.00	0	No comment
  ANO5	100.00	0	No comment
  ANTXR2	100.00	0	No comment
  APC	100.00	0	No comment
  ARCN1	100.00	0	No comment
  ARHGAP31	100.00	0	No comment
  ARID1A	94.64	0	No comment
  ARID1B	92.99	0	No comment
  SLURP1	85.73	0	No comment
  ARSL	100.00	0	No comment
  ASCC1	91.27	0	No comment
  ASXL2	100.00	0	No comment
  ATP6V0A2	100.00	0	No comment
  B3GALT6	56.12	0	No comment
  B3GAT3	95.56	0	No comment
  B4GALT7	93.23	0	No comment
  BGN	100.00	0	No comment
  BHLHA9	38.48	0	No comment
  BMP1	99.86	0	No comment
  BMP2	100.00	0	No comment
  BMPER	100.00	0	No comment
  BMPR1B	100.00	0	No comment
  BRIP1	100.00	0	No comment
  C1R	100.00	0	No comment
  C1S	100.00	0	No comment
  C2CD3	100.00	0	No comment
  CA2	100.00	0	No comment
  CANT1	100.00	0	No comment
  CASR	100.00	0	No comment
  CC2D2A	98.16	0	No comment
  CCDC8	100.00	0	No comment
  CCN6	100.00	0	No comment
  CCNQ	84.41	0	No comment
  CD96	100.00	0	No comment
  CDC45	100.00	0	No comment
  CDC6	100.00	0	No comment
  CDH3	100.00	0	No comment
  CDKN1C	62.25	0	No comment
  CDT1	87.95	0	No comment
  CEP120	100.00	0	No comment
  CEP290	99.99	0	No comment
  CHD7	100.00	0	No comment
  CHST14	98.57	0	No comment
  CHST3	100.00	0	No comment
  CHSY1	91.67	0	No comment
  CKAP2L	100.00	0	No comment
  CLCN5	100.00	0	No comment
  CLCN7	94.99	0	No comment
  COG1	99.24	0	No comment
  COL10A1	100.00	0	No comment
  COL11A1	100.00	0	No comment
  COL11A2	99.14	0	No comment
  COL1A1	100.00	0	No comment
  COL1A2	99.93	0	No comment
  COL2A1	100.00	0	No comment
  COL9A1	100.00	0	No comment
  COL9A2	100.00	0	No comment
  COL9A3	96.41	0	No comment
  COMP	99.90	0	No comment
  CPLANE1	100.00	0	No comment
  CREB3L1	100.00	0	No comment
  CREBBP	100.00	0	No comment
  CRTAP	89.72	0	No comment
  CSPP1	100.00	0	No comment
  CTSA	100.00	0	No comment
  CTSK	100.00	0	No comment
  CUL7	99.99	0	No comment
  CYP26B1	100.00	0	No comment
  DDR2	100.00	0	No comment
  RIGI	100.00	0	No comment
  DDX59	100.00	0	No comment
  DHCR24	99.96	0	No comment
  DHODH	100.00	0	No comment
  DLL3	78.42	0	No comment
  DLX3	100.00	0	No comment
  DLX5	100.00	0	No comment
  DLX6	99.69	0	No comment
  DMP1	100.00	0	No comment
  DOCK6	99.12	0	No comment
  DVL1	100.00	0	No comment
  DVL3	100.00	0	No comment
  DYM	100.00	0	No comment
  DYNC2H1	100.00	0	No comment
  DYNC2LI1	100.00	0	No comment
  GLB1	100.00	0	No comment
  EDNRA	100.00	0	No comment
  EFNA4	100.00	0	No comment
  EFNB1	100.00	0	No comment
  EFTUD2	100.00	0	No comment
  EIF2AK3	95.52	0	No comment
  EIF4A3	100.00	0	No comment
  ELMO2	100.00	0	No comment
  ENPP1	96.48	0	No comment
  EOGT	100.00	0	No comment
  EP300	100.00	0	No comment
  ERCC4	100.00	0	No comment
  ERF	100.00	0	No comment
  ESCO2	100.00	0	No comment
  EVC	94.45	0	No comment
  EVC2	99.55	0	No comment
  EXT1	100.00	0	No comment
  EXT2	100.00	0	No comment
  EZH2	100.00	0	No comment
  FAM111A	100.00	0	No comment
  FAM20C	92.71	0	No comment
  FANCA	99.70	0	No comment
  FANCB	100.00	0	No comment
  FANCC	100.00	0	No comment
  FANCD2	100.00	0	No comment
  FANCE	91.17	0	No comment
  FANCF	100.00	0	No comment
  FANCG	100.00	0	No comment
  FANCI	100.00	0	No comment
  FANCL	100.00	0	No comment
  FBLN1	95.59	0	No comment
  FBN1	100.00	0	No comment
  FBN2	100.00	0	No comment
  FBXW4	92.44	0	No comment
  FERMT3	100.00	0	No comment
  FGF10	100.00	0	No comment
  FGF16	100.00	0	No comment
  FGF23	100.00	0	No comment
  FGF3	80.02	0	No comment
  FGF4	70.06	0	No comment
  FGF8	94.82	0	No comment
  FGF9	100.00	0	No comment
  FGFR1	100.00	0	No comment
  FGFR2	100.00	0	No comment
  FGFR3	99.26	0	No comment
  FIG4	100.00	0	No comment
  FKBP10	100.00	0	No comment
  FLNA	100.00	0	No comment
  FLNB	100.00	0	No comment
  FMN1	100.00	0	No comment
  FN1	100.00	0	No comment
  FREM1	100.00	0	No comment
  FUCA1	100.00	0	No comment
  FZD2	98.72	0	No comment
  GALNS	96.18	0	No comment
  GALNT3	100.00	0	No comment
  GDF3	100.00	0	No comment
  GDF5	100.00	0	No comment
  GDF6	93.56	0	No comment
  GJA1	100.00	0	No comment
  GLI3	100.00	0	No comment
  GNAS	98.96	0	No comment
  GNPAT	100.00	0	No comment
  GNPTAB	100.00	0	No comment
  GNPTG	94.69	0	No comment
  GNS	100.00	0	No comment
  GORAB	100.00	0	No comment
  GPC3	100.00	0	No comment
  GPC6	100.00	0	No comment
  GPR68	100.00	0	No comment
  GPX4	87.15	0	No comment
  GREM1	100.00	0	No comment
  GUSB	100.00	0	No comment
  HDAC4	100.00	0	No comment
  HDAC8	100.00	0	No comment
  HES7	99.67	0	No comment
  HOXA11	99.40	0	No comment
  HOXA13	73.35	0	No comment
  HOXD13	80.52	0	No comment
  HPGD	99.99	0	No comment
  HSPG2	99.43	0	No comment
  HUWE1	100.00	0	No comment
  CILK1	100.00	0	No comment
  IDH1	100.00	0	No comment
  IDH2	92.01	0	No comment
  IDS	100.00	0	No comment
  IFITM5	100.00	0	No comment
  IFT122	100.00	0	No comment
  IFT140	100.00	0	No comment
  IFT172	100.00	0	No comment
  IFT43	100.00	0	No comment
  IFT80	100.00	0	No comment
  IGF1R	100.00	0	No comment
  IHH	99.88	0	No comment
  IKBKG	99.74	0	No comment
  IL11RA	100.00	0	No comment
  IL1RN	100.00	0	No comment
  BPNT2	98.65	0	No comment
  INPPL1	96.74	0	No comment
  JAG1	99.66	0	No comment
  KAT6B	100.00	0	No comment
  KIF22	100.00	0	No comment
  KIF7	96.94	0	No comment
  KRAS	100.00	0	No comment
  LBR	100.00	0	No comment
  LEMD3	100.00	0	No comment
  LFNG	82.55	0	No comment
  LIFR	100.00	0	No comment
  LMBR1	100.00	0	No comment
  LMNA	99.93	0	No comment
  LMX1B	99.99	0	No comment
  LONP1	99.83	0	No comment
  LPIN2	100.00	0	No comment
  LRIT3	100.00	0	No comment
  CORIN	98.90	0	No comment
  LRP5	97.87	0	No comment
  LTBP2	100.00	0	No comment
  LTBP3	96.02	0	No comment
  MAB21L2	100.00	0	No comment
  MAFB	99.89	0	No comment
  MAN2B1	100.00	0	No comment
  MAN2C1	100.00	0	No comment
  MAP3K7	100.00	0	No comment
  MATN3	86.25	0	No comment
  MEGF8	99.99	0	No comment
  MEOX1	100.00	0	No comment
  MESP2	100.00	0	No comment
  MGP	100.00	0	No comment
  MITF	100.00	0	No comment
  MKS1	100.00	0	No comment
  MMP13	100.00	0	No comment
  MMP2	100.00	0	No comment
  MMP9	100.00	0	No comment
  MNX1	71.50	0	No comment
  MSX2	100.00	0	No comment
  MYCN	86.70	0	No comment
  MYT1	100.00	0	No comment
  NAGLU	87.38	0	No comment
  NEK1	100.00	0	No comment
  NEU1	100.00	0	No comment
  NF1	99.95	0	No comment
  NFIX	97.15	0	No comment
  NIPBL	99.98	0	No comment
  NKX3-2	96.89	0	No comment
  NLRP3	100.00	0	No comment
  NOG	100.00	0	No comment
  NOTCH2	99.76	0	No comment
  NPRL2	100.00	0	No comment
  NSD1	100.00	0	No comment
  NSDHL	100.00	0	No comment
  NTRK2	100.00	0	No comment
  OBSL1	98.31	0	No comment
  OFD1	99.88	0	No comment
  SLC25A15	100.00	0	No comment
  ORC4	100.00	0	No comment
  ORC6	100.00	0	No comment
  OSTM1	99.55	0	No comment
  P3H1	99.77	0	No comment
  P4HB	99.90	0	No comment
  PALB2	100.00	0	No comment
  PAM16	96.78	0	No comment
  PANK2	98.60	0	No comment
  PAPSS2	100.00	0	No comment
  PCNT	100.00	0	No comment
  PCYT1A	100.00	0	No comment
  PDE3A	100.00	0	No comment
  PDE4D	98.77	0	No comment
  PEX7	91.13	0	No comment
  PGM3	99.99	0	No comment
  PHEX	100.00	0	No comment
  PIGV	100.00	0	No comment
  PIK3CA	100.00	0	No comment
  PITX1	98.27	0	No comment
  PLEKHM1	100.00	0	No comment
  PLOD2	100.00	0	No comment
  PLS3	100.00	0	No comment
  POLR1A	100.00	0	No comment
  POLR1C	100.00	0	No comment
  POLR1D	100.00	0	No comment
  BVES	100.00	0	No comment
  PORCN	100.00	0	No comment
  PPIB	100.00	0	No comment
  PRKAR1A	100.00	0	No comment
  PROK2	98.51	0	No comment
  PTDSS1	100.00	0	No comment
  PTH1R	99.01	0	No comment
  PTHLH	100.00	0	No comment
  PTPN11	98.80	0	No comment
  PYCR1	100.00	0	No comment
  RAB23	100.00	0	No comment
  RAB33B	100.00	0	No comment
  RAD21	100.00	0	No comment
  RAD51C	100.00	0	No comment
  RASGRP2	100.00	0	No comment
  RBM8A	100.00	0	No comment
  RBPJ	100.00	0	No comment
  RECQL4	96.37	0	No comment
  RMRP	100.00	0	No comment
  RNU4ATAC	100.00	0	No comment
  ROR2	98.67	0	No comment
  RPGRIP1L	96.45	0	No comment
  RSPO2	100.00	0	No comment
  RSPRY1	100.00	0	No comment
  RUNX2	98.51	0	No comment
  SALL1	100.00	0	No comment
  SALL4	100.00	0	No comment
  SBDS	100.00	0	No comment
  SEC24D	100.00	0	No comment
  SERPINF1	100.00	0	No comment
  SERPINH1	100.00	0	No comment
  SETD2	100.00	0	No comment
  SF3B4	100.00	0	No comment
  SH3BP2	91.63	0	No comment
  SH3PXD2B	99.68	0	No comment
  SHOX	90.47	0	No comment
  HHAT	90.28	0	No comment
  SLC17A5	100.00	0	No comment
  SLC26A2	99.96	0	No comment
  SLC29A3	98.83	0	No comment
  SLC34A3	100.00	0	No comment
  SLC35D1	99.99	0	No comment
  SLC39A13	100.00	0	No comment
  SLCO5A1	100.00	0	No comment
  SLX4	100.00	0	No comment
  SMAD3	100.00	0	No comment
  SMAD4	100.00	0	No comment
  SMARCA2	98.07	0	No comment
  SMARCA4	100.00	0	No comment
  SMARCAL1	100.00	0	No comment
  SMARCB1	100.00	0	No comment
  SMC1A	100.00	0	No comment
  SMC3	100.00	0	No comment
  SMO	94.17	0	No comment
  SNRPB	100.00	0	No comment
  SNX10	100.00	0	No comment
  SOST	99.39	0	No comment
  SOX6	100.00	0	No comment
  SOX9	97.88	0	No comment
  SP7	100.00	0	No comment
  STAT3	100.00	0	No comment
  SULF1	100.00	0	No comment
  SUMF1	100.00	0	No comment
  TBCE	100.00	0	No comment
  TBX15	100.00	0	No comment
  TBX3	99.88	0	No comment
  TBX4	94.32	0	No comment
  TBX5	100.00	0	No comment
  TBX6	100.00	0	No comment
  TBXAS1	100.00	0	No comment
  TCF12	100.00	0	No comment
  TCIRG1	100.00	0	No comment
  TCOF1	99.99	0	No comment
  TCTN3	100.00	0	No comment
  TGDS	100.00	0	No comment
  TGFB1	99.97	0	No comment
  TGFB2	100.00	0	No comment
  TGFBR1	92.91	0	No comment
  TGFBR2	100.00	0	No comment
  THPO	100.00	0	No comment
  TMCO1	100.00	0	No comment
  TMEM216	100.00	0	No comment
  TMEM38B	100.00	0	No comment
  TMEM67	100.00	0	No comment
  TNFRSF11B	100.00	0	No comment
  TP63	100.00	0	No comment
  TRAPPC2	95.31	0	No comment
  TREM2	100.00	0	No comment
  TRIP11	100.00	0	No comment
  TRIP4	100.00	0	No comment
  TRPS1	100.00	0	No comment
  TRPV4	100.00	0	No comment
  TTC21B	100.00	0	No comment
  TWIST1	70.93	0	No comment
  TYROBP	100.00	0	No comment
  UBE2T	100.00	0	No comment
  WDR19	100.00	0	No comment
  DYNC2I2	93.01	0	No comment
  WDR35	100.00	0	No comment
  WNT1	98.70	0	No comment
  WNT10B	98.99	0	No comment
  WNT3	100.00	0	No comment
  WNT5A	99.97	0	No comment
  WNT6	96.35	0	No comment
  WNT7A	100.00	0	No comment
  XYLT1	88.83	0	No comment
  XYLT2	98.70	0	No comment
  ZEB2	100.00	0	No comment
  ZIC1	100.00	0	No comment
  ZMPSTE24	100.00	0	No comment
  ZSWIM6	88.87	0	No comment

• Spinocerebellar ataxia (type 8, 17 + ATN1) (5 genes) - VUB
  Details

  Gene	% of coding sequence sufficiently covered to detect heterozygous mutations	Copy number variation	Comments
  ATXN8
  ATXN10
  PPP2R2B
  TBP
  ATN1

• Spinocerebellar ataxia (types 1, 2, 3, 6, 7) (5 genes) - VUB
  Details

  Gene	% of coding sequence sufficiently covered to detect heterozygous mutations	Copy number variation	Comments
  ATXN1
  ATXN2
  ATXN3
  ATXN7
  CACNA1A

• Thyroid disgenesis (38 genes) - VUB
  Details

  Gene	% of coding sequence sufficiently covered to detect heterozygous mutations	Copy number variation	Comments
  AP2S1	100.00	0	No comment
  CASR	100.00	0	No comment
  CDCA8	100.00	0	No comment
  DUOX1	100.00	0	No comment
  DUOX2	100.00	0	No comment
  DUOXA2	100.00	0	No comment
  DYRK1A	100.00	0	No comment
  ELN	100.00	0	No comment
  FOXE1	60.48	0	No comment
  GAS1	62.99	0	No comment
  GLIS3	100.00	0	No comment
  GNA11	99.51	0	No comment
  GNAS	98.96	0	No comment
  GNAS-AS1	100.00	0	No comment
  IYD	100.00	0	No comment
  JAG1	99.66	0	No comment
  KAT6B	100.00	0	No comment
  KDM6A	100.00	0	No comment
  KMT2D	100.00	0	No comment
  NKX2-1	92.46	0	No comment
  NKX2-5	100.00	0	No comment
  NTN1	95.84	0	No comment
  PAX8	100.00	0	No comment
  SALL1	100.00	0	No comment
  SECISBP2	98.68	0	No comment
  SLC11A2	100.00	0	No comment
  SLC26A4	99.99	0	No comment
  SLC26A7	100.00	0	No comment
  SLC5A5	100.00	0	No comment
  STX16	100.00	0	No comment
  TBX1	77.39	0	No comment
  TG	100.00	0	No comment
  THRA	100.00	0	No comment
  THRB	100.00	0	No comment
  THPO	99.84	0	No comment
  TSHR	100.00	0	No comment
  TUBB1	100.00	0	No comment
  URB1	99.99	0	No comment

• mitochondrial disease, nuclear based (343 genes) - VUB
  Details

  Gene	% of coding sequence sufficiently covered to detect heterozygous mutations	Copy number variation	Comments
  AARS2	100.00	0	No comment
  ABAT	100.00	0	No comment
  ABCB7	100.00	0	No comment
  ACAD9	100.00	0	No comment
  ACO2	100.00	0	No comment
  ADPRS	99.18	0	No comment
  AFG3L2	95.05	0	No comment
  AGK	100.00	0	No comment
  AIFM1	100.00	0	No comment
  ALDH1B1	100.00	0	No comment
  ANO10	100.00	0	No comment
  APTX	100.00	0	No comment
  ATAD3A	98.67	0	No comment
  ATAD3B	98.52	0	No comment
  ATAD3C	97.28	0	No comment
  ATL1	100.00	0	No comment
  ATL3	100.00	0	No comment
  ATP5F1A	100.00	0	No comment
  ATP5F1B	100.00	0	No comment
  ATP5F1C	100.00	0	No comment
  ATP5F1D	86.59	0	No comment
  ATP5F1E	100.00	0	No comment
  ATP5IF1	100.00	0	No comment
  ATP5MC1	100.00	0	No comment
  ATP5MC2	100.00	0	No comment
  ATP5MC3	100.00	0	No comment
  ATP5MK	100.00	0	No comment
  ATP5ME	100.00	0	No comment
  ATP5MF	100.00	0	No comment
  ATP5MG	100.00	0	No comment
  ATP5MGL	100.00	0	No comment
  ATP5PB	99.84	0	No comment
  ATP5PD	99.81	0	No comment
  ATP5PF	100.00	0	No comment
  ATP5PO	100.00	0	No comment
  ATPAF1	81.57	0	No comment
  ATPAF2	100.00	0	No comment
  BCS1L	100.00	0	No comment
  BOLA1	100.00	0	No comment
  BOLA2	100.00	0	No comment
  BOLA3	84.43	0	No comment
  MTRFR	100.00	0	No comment
  C19ORF12	100.00	0	No comment
  C1QBP	97.23	0	No comment
  CARS2	95.42	0	No comment
  CEP89	100.00	0	No comment
  CHCHD10	97.45	0	No comment
  CHKB	99.69	0	No comment
  CLPB	100.00	0	No comment
  CLPP	100.00	0	No comment
  COA1	100.00	0	No comment
  COA3	100.00	0	No comment
  COA5	100.00	0	No comment
  COA6	100.00	0	No comment
  COA7	100.00	0	No comment
  COA8	100.00	0	No comment
  COASY	100.00	0	No comment
  COQ2	97.15	0	No comment
  COQ4	100.00	0	No comment
  COQ6	100.00	0	No comment
  COQ7	100.00	0	No comment
  COQ8A	100.00	0	No comment
  COQ8B	90.08	0	No comment
  COQ9	99.99	0	No comment
  COX10	100.00	0	No comment
  COX14	100.00	0	No comment
  COX15	100.00	0	No comment
  COX20	98.72	0	No comment
  COX4I1	100.00	0	No comment
  COX4I2	100.00	0	No comment
  COX5A	97.33	0	No comment
  COX5B	100.00	0	No comment
  COX6A1	100.00	0	No comment
  COX6A2	100.00	0	No comment
  COX6B1	100.00	0	No comment
  COX6B2	100.00	0	No comment
  COX6C	100.00	0	No comment
  COX7A1	100.00	0	No comment
  COX7A2	100.00	0	No comment
  COX7A2L	100.00	0	No comment
  COX7B	99.88	0	No comment
  COX7B2	100.00	0	No comment
  COX7C	100.00	0	No comment
  COX8A	100.00	0	No comment
  COX8C	98.71	0	No comment
  CYC1	88.46	0	No comment
  CYCS	100.00	0	No comment
  DARS2	100.00	0	No comment
  DDHD1	98.94	0	No comment
  DES	100.00	0	No comment
  DGUOK	100.00	0	No comment
  DHTKD1	99.98	0	No comment
  DLAT	100.00	0	No comment
  DLD	100.00	0	No comment
  DLST	100.00	0	No comment
  DMAC2L	100.00	0	No comment
  DNA2	100.00	0	No comment
  DNAJC19	100.00	0	No comment
  DNAJC3	100.00	0	No comment
  DNM1L	100.00	0	No comment
  EARS2	100.00	0	No comment
  ECHS1	99.99	0	No comment
  ECSIT	100.00	0	No comment
  ELAC2	99.99	0	No comment
  ETHE1	99.88	0	No comment
  FARS2	100.00	0	No comment
  FASTKD2	100.00	0	No comment
  FBXL4	100.00	0	No comment
  FDX2	100.00	0	No comment
  FDXR	100.00	0	No comment
  FH	100.00	0	No comment
  FOXRED1	100.00	0	No comment
  FXN	89.89	0	No comment
  GARS1	99.53	0	No comment
  GATB	100.00	0	No comment
  GATC	100.00	0	No comment
  GATM	99.26	0	No comment
  GFER	97.55	0	No comment
  GFM1	100.00	0	No comment
  GFM2	100.00	0	No comment
  GLRX5	84.06	0	No comment
  GLUD1	99.45	0	No comment
  GTPBP3	100.00	0	No comment
  HARS2	100.00	0	No comment
  HCCS	100.00	0	No comment
  HIBCH	100.00	0	No comment
  HLCS	100.00	0	No comment
  HSD17B10	100.00	0	No comment
  HSPA9	100.00	0	No comment
  HSPD1	99.53	0	No comment
  HTRA2	100.00	0	No comment
  IARS2	100.00	0	No comment
  IBA57	87.89	0	No comment
  ISCA1	99.77	0	No comment
  ISCA2	100.00	0	No comment
  ISCU	99.39	0	No comment
  KARS1	100.00	0	No comment
  LACTB	91.87	0	No comment
  LARS2	100.00	0	No comment
  LIAS	100.00	0	No comment
  LIPT1	100.00	0	No comment
  LIPT2	94.78	0	No comment
  LONP1	99.83	0	No comment
  LRPPRC	99.14	0	No comment
  LYRM4	68.80	0	No comment
  LYRM7	100.00	0	No comment
  MARS2	100.00	0	No comment
  MCUR1	79.55	0	No comment
  MDH2	98.91	0	No comment
  MFF	100.00	0	No comment
  MFN2	100.00	0	No comment
  MGME1	100.00	0	No comment
  MICOS13	100.00	0	No comment
  MICU1	100.00	0	No comment
  MIEF2	100.00	0	No comment
  MMUT	100.00	0	No comment
  MPC1	100.00	0	No comment
  MPV17	100.00	0	No comment
  MRM2	99.91	0	No comment
  MRM3	100.00	0	No comment
  MRPL12	92.58	0	No comment
  MRPL3	100.00	0	No comment
  MRPL44	100.00	0	No comment
  MRPL57	100.00	0	No comment
  MRPS14	100.00	0	No comment
  MRPS16	100.00	0	No comment
  MRPS2	98.34	0	No comment
  MRPS22	100.00	0	No comment
  MRPS34	97.33	0	No comment
  MRPS7	100.00	0	No comment
  MRRF	100.00	0	No comment
  MSTO1	100.00	0	No comment
  MTFMT	99.11	0	No comment
  MTO1	95.75	0	No comment
  MTPAP	100.00	0	No comment
  NADK2	90.73	0	No comment
  NARS2	100.00	0	No comment
  NAXE	99.78	0	No comment
  NDUFA1	100.00	0	No comment
  NDUFA10	95.87	0	No comment
  NDUFA11	98.06	0	No comment
  NDUFA12	100.00	0	No comment
  NDUFA13	100.00	0	No comment
  NDUFA2	100.00	0	No comment
  NDUFA3	100.00	0	No comment
  NDUFA4	99.68	0	No comment
  NDUFA5	87.27	0	No comment
  NDUFA6	100.00	0	No comment
  NDUFA7	100.00	0	No comment
  NDUFA8	100.00	0	No comment
  NDUFA9	100.00	0	No comment
  NDUFAB1	100.00	0	No comment
  NDUFAF1	100.00	0	No comment
  NDUFAF2	100.00	0	No comment
  NDUFAF3	100.00	0	No comment
  NDUFAF4	100.00	0	No comment
  NDUFAF5	100.00	0	No comment
  NDUFAF6	93.73	0	No comment
  NDUFAF7	100.00	0	No comment
  NDUFB1	100.00	0	No comment
  NDUFB10	100.00	0	No comment
  NDUFB11	99.52	0	No comment
  NDUFB2	100.00	0	No comment
  NDUFB3	100.00	0	No comment
  NDUFB4	99.85	0	No comment
  NDUFB5	100.00	0	No comment
  NDUFB6	100.00	0	No comment
  NDUFB7	100.00	0	No comment
  NDUFB8	100.00	0	No comment
  NDUFB9	100.00	0	No comment
  NDUFC1	100.00	0	No comment
  NDUFC2	100.00	0	No comment
  NDUFS1	100.00	0	No comment
  NDUFS2	100.00	0	No comment
  NDUFS3	100.00	0	No comment
  NDUFS4	100.00	0	No comment
  NDUFS5	99.18	0	No comment
  NDUFS6	100.00	0	No comment
  NDUFS7	99.49	0	No comment
  NDUFS8	100.00	0	No comment
  NDUFV1	100.00	0	No comment
  NDUFV2	100.00	0	No comment
  NDUFV3	99.46	0	No comment
  NFS1	93.58	0	No comment
  NFU1	99.75	0	No comment
  NSUN3	100.00	0	No comment
  NUBPL	100.00	0	No comment
  OGDH	100.00	0	No comment
  MED12	100.00	0	No comment
  OPA3	100.00	0	No comment
  OXA1L	100.00	0	No comment
  PANK2	98.60	0	No comment
  PARS2	100.00	0	No comment
  PODXL	100.00	0	No comment
  PDHA1	98.17	0	No comment
  PDHB	100.00	0	No comment
  PDHX	99.87	0	No comment
  PDK1	99.19	0	No comment
  PDK2	100.00	0	No comment
  PDK3	99.76	0	No comment
  PDK4	100.00	0	No comment
  PDP1	100.00	0	No comment
  PDSS1	86.24	0	No comment
  PDSS2	100.00	0	No comment
  PET100	100.00	0	No comment
  PET117	100.00	0	No comment
  PIGA	100.00	0	No comment
  PINK1	92.83	0	No comment
  PISD	100.00	0	No comment
  PITRM1	100.00	0	No comment
  PMPCA	100.00	0	No comment
  PNPT1	100.00	0	No comment
  POLG	100.00	0	No comment
  POLG2	100.00	0	No comment
  POLR3A	100.00	0	No comment
  PPA2	99.97	0	No comment
  PTRH2	100.00	0	No comment
  PUS1	99.08	0	No comment
  PYCR1	100.00	0	No comment
  PYCR2	100.00	0	No comment
  QRSL1	100.00	0	No comment
  RARS2	100.00	0	No comment
  REEP1	97.37	0	No comment
  RMND1	100.00	0	No comment
  RNASEH1	100.00	0	No comment
  RRM2B	100.00	0	No comment
  SARS2	100.00	0	No comment
  SCO1	100.00	0	No comment
  SCO2	100.00	0	No comment
  SDHA	98.02	0	No comment
  SDHAF1	96.03	0	No comment
  SDHB	100.00	0	No comment
  SDHD	80.22	0	No comment
  SERAC1	100.00	0	No comment
  SFXN4	100.00	0	No comment
  SLC19A2	99.50	0	No comment
  SLC19A3	100.00	0	No comment
  SLC25A1	93.77	0	No comment
  SLC25A12	100.00	0	No comment
  SLC25A13	99.94	0	No comment
  SLC25A19	100.00	0	No comment
  SLC25A22	100.00	0	No comment
  SLC25A24	99.82	0	No comment
  SLC25A3	100.00	0	No comment
  SLC25A32	100.00	0	No comment
  SLC25A4	99.09	0	No comment
  SLC25A46	100.00	0	No comment
  SLC25A5	98.36	0	No comment
  SLC25A6	100.00	0	No comment
  SLC39A8	97.00	0	No comment
  SPART	100.00	0	No comment
  SPAST	100.00	0	No comment
  AFG2A	100.00	0	No comment
  SPG7	96.56	0	No comment
  SQSTM1	93.68	0	No comment
  STXBP1	100.00	0	No comment
  SUCLA2	100.00	0	No comment
  SUCLG1	95.74	0	No comment
  SUCLG2	99.95	0	No comment
  SURF1	87.74	0	No comment
  TACO1	99.90	0	No comment
  TANGO2	100.00	0	No comment
  TARS2	100.00	0	No comment
  WWTR1	99.81	0	No comment
  THG1L	100.00	0	No comment
  TIMM44	99.93	0	No comment
  TIMM50	100.00	0	No comment
  TIMM8A	100.00	0	No comment
  TIMMDC1	100.00	0	No comment
  TK2	95.90	0	No comment
  TMEM126A	100.00	0	No comment
  TMEM126B	100.00	0	No comment
  TMEM70	100.00	0	No comment
  TPK1	100.00	0	No comment
  TRIAP1	100.00	0	No comment
  TRIT1	100.00	0	No comment
  TRMT10C	100.00	0	No comment
  TRMT5	100.00	0	No comment
  TRMU	100.00	0	No comment
  TRNT1	100.00	0	No comment
  TSFM	93.22	0	No comment
  TTC19	85.12	0	No comment
  TUFM	100.00	0	No comment
  TWNK	100.00	0	No comment
  TXN2	100.00	0	No comment
  TYMP	91.72	0	No comment
  UBA52	100.00	0	No comment
  UQCC1	100.00	0	No comment
  UQCC2	100.00	0	No comment
  UQCC3	100.00	0	No comment
  UQCR10	100.00	0	No comment
  UQCR11	100.00	0	No comment
  UQCRB	100.00	0	No comment
  UQCRC1	99.82	0	No comment
  UQCRC2	100.00	0	No comment
  UQCRFS1	98.87	0	No comment
  UQCRH	100.00	0	No comment
  UQCRQ	100.00	0	No comment
  VARS2	100.00	0	No comment
  VPS13D	100.00	0	No comment
  WARS2	100.00	0	No comment
  YARS2	100.00	0	No comment
  YME1L1	100.00	0	No comment

• mitochondrial disorders, mitochondrial DNA based / mtDNA resequencing - VUB
• mtDNA depletion syndrome (6 genes) - VUB
  Details

  Gene	% of coding sequence sufficiently covered to detect heterozygous mutations	Copy number variation	Comments
  DGUOK
  TK2
  MPV17
  RRM2B
  TYMP
  TWNK