POMK

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Name:	protein O-mannose kinase
Symbol:	POMK
Version of Orphanet:	2023-06-22 14:14:43
Synonyms:	FLJ23356 SGK196 SgK196
XREF(s):	Orphanet Ensembl HGNC OMIM SwissProt Reactome
Created:	13 May 2019 - 01:01
Changed:	22 Jun 2023 - 16:14

Related Genetic Tests

• Congenital malformation (gene panel - 1721 genes)
• Congenital malformation gene panel
• Early onset epileptic encephalopathy (gene panel - 845 genes)
• Epilepsy gene panel
• Intellectual disability & Epilepsy (gene panel)
• Intellectual disability (gene panel)
• Malformations of cortical development (235 genes)
• Myopathy (gene panel)
• Myopathy (gene panel)
• Neuromuscular disorders (232 genes (= myopathy, metabolic myopathy, ion channel muscle diseases, muscular dystrophy, myotonic dystrophy, rhabdomyolysis, myasthenia)
• Neuromuscular disorders (548 genes)
• Neuromuscular disorders (gene panel)
• Neuromuscular disorders : congenital & distal myopathy, congenital muscle dystrophy / Limb-girdle muscular dystrophy / Rhabdomyolysis / Myopathy (with prominent contractures) / distal artrogryposis (gene panel)

Related Diseases

• Congenital muscular dystrophy with cerebellar involvement
• Limb-girdle muscular dystrophy due to POMK deficiency
• Walker-Warburg syndrome

Related Gene Panels

• Congenital malformation (1721 genes) - ULB
  Details

  Gene	% of coding sequence sufficiently covered to detect heterozygous mutations	Copy number variation	Comments
  AAAS	0.00	0	,
  AARS1	0.00	0	,
  AASS	0.00	0	,
  ABAT	0.00	0	,
  ABCA12	0.00	0	,
  ABCC6	0.00	0	,
  ABCC9	0.00	0	,
  ABCD1	0.00	0	,
  ABCD3	0.00	0	,
  ABCD4	0.00	0	,
  ABHD5	0.00	0	,
  ABL1	0.00	0	,
  ACAD9	0.00	0	,
  ACADVL	0.00	0	,
  ACAN	0.00	0	,
  ACE	0.00	0	,
  ACO2	0.00	0	,
  ACOX1	0.00	0	,
  ACP5	0.00	0	,
  ACSL4	0.00	0	,
  ACTA1	0.00	0	,
  ACTA2	0.00	0	,
  ACTB	0.00	0	,
  ACTC1	0.00	0	,
  ACTG1	0.00	0	,
  ACTG2	0.00	0	,
  ACVR1	0.00	0	,
  ACVR2B	0.00	0	,
  ACY1	0.00	0	,
  ADAMTS10	0.00	0	,
  ADAMTS17	0.00	0	,
  ADAMTS3	0.00	0	,
  ADAMTSL2	0.00	0	,
  ADAR	0.00	0	,
  ADGRG1	0.00	0	,
  ADGRG6	0.00	0	,
  ADNP	0.00	0	,
  ADSL	0.00	0	,
  AFF3	0.00	0	,
  AFF4	0.00	0	,
  AGK	0.00	0	,
  AGL	0.00	0	,
  AGPS	0.00	0	,
  AHCY	0.00	0	,
  AHDC1	0.00	0	,
  AHI1	0.00	0	,
  AIFM1	0.00	0	,
  AIMP1	0.00	0	,
  AIPL1	0.00	0	,
  AIRE	0.00	0	,
  AKR1C2	0.00	0	,
  AKT1	0.00	0	,
  AKT2	0.00	0	,
  AKT3	0.00	0	,
  ALDH18A1	0.00	0	,
  ALDH1A3	0.00	0	,
  ALDH3A2	0.00	0	,
  ALDH7A1	0.00	0	,
  ALDOA	0.00	0	,
  ALG1	0.00	0	,
  ALG11	0.00	0	,
  ALG12	0.00	0	,
  ALG13	0.00	0	,
  ALG2	0.00	0	,
  ALG3	0.00	0	,
  ALG6	0.00	0	,
  ALG8	0.00	0	,
  ALG9	0.00	0	,
  ALMS1	0.00	0	,
  ALOX12B	0.00	0	,
  ALOXE3	0.00	0	,
  ALPL	0.00	0	,
  ALX1	0.00	0	,
  ALX3	0.00	0	,
  ALX4	0.00	0	,
  AMACR	0.00	0	,
  AMBRA1	0.00	0	,
  AMER1	0.00	0	,
  AMMECR1	0.00	0	,
  AMPD2	0.00	0	,
  AMT	0.00	0	,
  ANAPC1	0.00	0	,
  ANKH	0.00	0	,
  ANKRD11	0.00	0	,
  ANKRD26	0.00	0	,
  ANKS6	0.00	0	,
  ANOS1	0.00	0	,
  ANTXR1	0.00	0	,
  ANTXR2	0.00	0	,
  AP1S2	0.00	0	,
  AP3B2	0.00	0	,
  AP4B1	0.00	0	,
  AP4E1	0.00	0	,
  AP4M1	0.00	0	,
  AP4S1	0.00	0	,
  AR	0.00	0	,
  ARCN1	0.00	0	,
  ARFGEF2	0.00	0	,
  ARHGAP29	0.00	0	,
  ARHGAP31	0.00	0	,
  ARID1A	0.00	0	,
  ARID1B	0.00	0	,
  ARID2	0.00	0	,
  ARL13B	0.00	0	,
  ARL3	0.00	0	,
  ARL6	0.00	0	,
  ODAD2	0.00	0	,
  ARMC9	0.00	0	,
  ARSA	0.00	0	,
  SLURP1	0.00	0	,
  ARSL	0.00	0	,
  ARVCF	0.00	0	,
  ARX	0.00	0	,
  ASAH1	0.00	0	,
  ASCC1	0.00	0	,
  ASNS	0.00	0	,
  ASPA	0.00	0	,
  ASPH	0.00	0	,
  ASPM	0.00	0	,
  ASS1	0.00	0	,
  ASXL1	0.00	0	,
  ASXL2	0.00	0	,
  ASXL3	0.00	0	,
  ATAD3A	0.00	0	,
  ATIC	0.00	0	,
  ATL1	0.00	0	,
  ATM	0.00	0	,
  ATP1A2	0.00	0	,
  ATP6V0A2	0.00	0	,
  ATP6V1B2	0.00	0	,
  ATP7A	0.00	0	,
  ATP8A2	0.00	0	,
  ATRX	0.00	0	,
  ATXN10	0.00	0	,
  AVIL	0.00	0	,
  B3GALNT2	0.00	0	,
  B3GALT6	0.00	0	,
  B3GAT3	0.00	0	,
  B3GLCT	0.00	0	,
  B4GALT1	0.00	0	,
  B4GALT7	0.00	0	,
  B4GAT1	0.00	0	,
  B9D1	0.00	0	,
  B9D2	0.00	0	,
  BANF1	0.00	0	,
  BBIP1	0.00	0	,
  BBS1	0.00	0	,
  BBS10	0.00	0	,
  BBS12	0.00	0	,
  BBS2	0.00	0	,
  BBS4	0.00	0	,
  BBS5	0.00	0	,
  BBS7	0.00	0	,
  BBS9	0.00	0	,
  BCAP31	0.00	0	,
  BCL11A	0.00	0	,
  BCL9L	0.00	0	,
  BCOR	0.00	0	,
  BCS1L	0.00	0	,
  BDNF	0.00	0	,
  BFSP2	0.00	0	,
  BGN	0.00	0	,
  BHLHA9	0.00	0	,
  BICC1	0.00	0	,
  BICD2	0.00	0	,
  BIN1	0.00	0	,
  BLM	0.00	0	,
  BLOC1S6	0.00	0	,
  BMP1	0.00	0	,
  BMP2	0.00	0	,
  BMP4	0.00	0	,
  BMPER	0.00	0	,
  BMPR1B	0.00	0	,
  BNC2	0.00	0	,
  BOLA3	0.00	0	,
  BPTF	0.00	0	,
  BRAF	0.00	0	,
  BRAT1	0.00	0	,
  BRCA2	0.00	0	,
  BRIP1	0.00	0	,
  BRPF1	0.00	0	,
  BSND	0.00	0	,
  BTD	0.00	0	,
  BUB1	0.00	0	,
  BUB1B	0.00	0	,
  BUB3	0.00	0	,
  C12ORF57	0.00	0	,
  MTRFR	0.00	0	,
  C1QBP	0.00	0	,
  MFRP	0.00	0	,
  C2CD3	0.00	0	,
  C4BPA	0.00	0	,
  C4BPB	0.00	0	,
  CFAP418	0.00	0	,
  CA2	0.00	0	,
  CA5A	0.00	0	,
  CA8	0.00	0	,
  CACNA1A	0.00	0	,
  CACNA1C	0.00	0	,
  CACNA1D	0.00	0	,
  CACNA1E	0.00	0	,
  CACNA1G	0.00	0	,
  CAMK2A	0.00	0	,
  CAMK2B	0.00	0	,
  CAMTA1	0.00	0	,
  CANT1	0.00	0	,
  CARS2	0.00	0	,
  CASK	0.00	0	,
  CASR	0.00	0	,
  CBL	0.00	0	,
  CC2D2A	0.00	0	,
  CCBE1	0.00	0	,
  CCDC103	0.00	0	,
  ODAD1	0.00	0	,
  ODAD3	0.00	0	,
  CCDC22	0.00	0	,
  CCDC28B	0.00	0	,
  CCDC39	0.00	0	,
  CCDC40	0.00	0	,
  CCDC78	0.00	0	,
  CCDC8	0.00	0	,
  CCDC88C	0.00	0	,
  CCM2	0.00	0	,
  CCND2	0.00	0	,
  CCNQ	0.00	0	,
  CD151	0.00	0	,
  CD55	0.00	0	,
  CD96	0.00	0	,
  CDAN1	0.00	0	,
  CDC45	0.00	0	,
  CDC6	0.00	0	,
  CDC73	0.00	0	,
  CDH1	0.00	0	,
  CDH11	0.00	0	,
  CDH3	0.00	0	,
  CDK13	0.00	0	,
  CDK5RAP2	0.00	0	,
  CDK8	0.00	0	,
  CDKL5	0.00	0	,
  CDKN1C	0.00	0	,
  CDON	0.00	0	,
  CDT1	0.00	0	,
  CELSR1	0.00	0	,
  CENPF	0.00	0	,
  CENPJ	0.00	0	,
  CEP104	0.00	0	,
  CEP120	0.00	0	,
  CEP135	0.00	0	,
  CEP152	0.00	0	,
  CEP164	0.00	0	,
  CEP290	0.00	0	,
  CEP41	0.00	0	,
  CEP55	0.00	0	,
  CEP57	0.00	0	,
  CEP63	0.00	0	,
  CEP83	0.00	0	,
  CERS3	0.00	0	,
  CERT1	0.00	0	,
  CFAP298	0.00	0	,
  CFAP300	0.00	0	,
  CFAP410	0.00	0	,
  CFAP53	0.00	0	,
  CFC1	0.00	0	,
  CFHR2	0.00	0	,
  CFL2	0.00	0	,
  CFTR	0.00	0	,
  CHAMP1	0.00	0	,
  CHAT	0.00	0	,
  CHD3	0.00	0	,
  CHD4	0.00	0	,
  CHD7	0.00	0	,
  CHD8	0.00	0	,
  CHKB	0.00	0	,
  CHMP1A	0.00	0	,
  CHN1	0.00	0	,
  CHRNA1	0.00	0	,
  CHRNA3	0.00	0	,
  CHRNB1	0.00	0	,
  CHRNB2	0.00	0	,
  CHRND	0.00	0	,
  CHRNE	0.00	0	,
  CHRNG	0.00	0	,
  CHST11	0.00	0	,
  CHST14	0.00	0	,
  CHST3	0.00	0	,
  CHSY1	0.00	0	,
  CHUK	0.00	0	,
  CILK1	0.00	0	,
  CIT	0.00	0	,
  CKAP2L	0.00	0	,
  CLCN7	0.00	0	,
  CLCNKB	0.00	0	,
  CLDN10	0.00	0	,
  CLMP	0.00	0	,
  CLP1	0.00	0	,
  CLPB	0.00	0	,
  CLPP	0.00	0	,
  CLTC	0.00	0	,
  CNKSR2	0.00	0	,
  CNOT1	0.00	0	,
  CNOT3	0.00	0	,
  CNTN1	0.00	0	,
  CNTNAP1	0.00	0	,
  CNTNAP2	0.00	0	,
  COASY	0.00	0	,
  COG1	0.00	0	,
  COG4	0.00	0	,
  COG5	0.00	0	,
  COG6	0.00	0	,
  COG7	0.00	0	,
  COG8	0.00	0	,
  COL10A1	0.00	0	,
  COL11A1	0.00	0	,
  COL11A2	0.00	0	,
  COL12A1	0.00	0	,
  COL13A1	0.00	0	,
  COL18A1	0.00	0	,
  COL1A1	0.00	0	,
  COL1A2	0.00	0	,
  COL25A1	0.00	0	,
  COL2A1	0.00	0	,
  COL3A1	0.00	0	,
  COL4A1	0.00	0	,
  COL4A2	0.00	0	,
  COL5A1	0.00	0	,
  COL5A2	0.00	0	,
  COL6A1	0.00	0	,
  COL6A2	0.00	0	,
  COL6A3	0.00	0	,
  COL7A1	0.00	0	,
  COL9A1	0.00	0	,
  COL9A2	0.00	0	,
  COLEC10	0.00	0	,
  COLEC11	0.00	0	,
  COLQ	0.00	0	,
  COMT	0.00	0	,
  COQ4	0.00	0	,
  COQ7	0.00	0	,
  COQ9	0.00	0	,
  COX7B	0.00	0	,
  CPAMD8	0.00	0	,
  CPLANE1	0.00	0	,
  CPT2	0.00	0	,
  CRADD	0.00	0	,
  CRB1	0.00	0	,
  CRB2	0.00	0	,
  CREB3L1	0.00	0	,
  CREBBP	0.00	0	,
  CRELD1	0.00	0	,
  CRH	0.00	0	,
  CRIPT	0.00	0	,
  CRLF1	0.00	0	,
  CRPPA	0.00	0	,
  CRTAP	0.00	0	,
  CRX	0.00	0	,
  CRYAA	0.00	0	,
  CRYBA1	0.00	0	,
  CRYBA4	0.00	0	,
  CRYBB1	0.00	0	,
  CRYBB2	0.00	0	,
  CRYBB3	0.00	0	,
  CRYGC	0.00	0	,
  CRYGD	0.00	0	,
  CSF1R	0.00	0	,
  CSNK2A1	0.00	0	,
  CSPP1	0.00	0	,
  CSTA	0.00	0	,
  CTC1	0.00	0	,
  CTCF	0.00	0	,
  CTDP1	0.00	0	,
  CTNNB1	0.00	0	,
  CTNND1	0.00	0	,
  CTNS	0.00	0	,
  CTSA	0.00	0	,
  CTSD	0.00	0	,
  CTSK	0.00	0	,
  CTU2	0.00	0	,
  CUL4B	0.00	0	,
  CUL7	0.00	0	,
  CUX2	0.00	0	,
  CWC27	0.00	0	,
  CXCR4	0.00	0	,
  CYB5R3	0.00	0	,
  CYP11A1	0.00	0	,
  CYP11B1	0.00	0	,
  CYP17A1	0.00	0	,
  CYP19A1	0.00	0	,
  CYP1B1	0.00	0	,
  CYP21A2	0.00	0	,
  CYP26B1	0.00	0	,
  CYP2U1	0.00	0	,
  CYP4F22	0.00	0	,
  DACH1	0.00	0	,
  DAG1	0.00	0	,
  DARS1	0.00	0	,
  DCC	0.00	0	,
  DCDC2	0.00	0	,
  DCHS1	0.00	0	,
  DCX	0.00	0	,
  DDHD2	0.00	0	,
  DDR2	0.00	0	,
  DDX11	0.00	0	,
  DDX3X	0.00	0	,
  DDX59	0.00	0	,
  DDX6	0.00	0	,
  DENND5A	0.00	0	,
  DHCR24	0.00	0	,
  DHCR7	0.00	0	,
  DHDDS	0.00	0	,
  DHFR	0.00	0	,
  DHH	0.00	0	,
  DHODH	0.00	0	,
  DHTKD1	0.00	0	,
  DHX30	0.00	0	,
  DIAPH1	0.00	0	,
  DIS3L2	0.00	0	,
  DISP1	0.00	0	,
  DKC1	0.00	0	,
  DLG4	0.00	0	,
  DLL3	0.00	0	,
  DLL4	0.00	0	,
  DLX5	0.00	0	,
  DMD	0.00	0	,
  DMPK	0.00	0	,
  DNAAF1	0.00	0	,
  DNAAF2	0.00	0	,
  DNAAF3	0.00	0	,
  DNAAF4	0.00	0	,
  DNAAF5	0.00	0	,
  DNAH11	0.00	0	,
  DNAH5	0.00	0	,
  DNAH9	0.00	0	,
  DNAI1	0.00	0	,
  DNAI2	0.00	0	,
  DNAJB11	0.00	0	,
  DNAJC12	0.00	0	,
  DNAJC19	0.00	0	,
  DNM1	0.00	0	,
  DNM1L	0.00	0	,
  DNM2	0.00	0	,
  DNMT3A	0.00	0	,
  DNMT3B	0.00	0	,
  DOCK6	0.00	0	,
  DOCK7	0.00	0	,
  DOK7	0.00	0	,
  DOLK	0.00	0	,
  DONSON	0.00	0	,
  DPAGT1	0.00	0	,
  DPF2	0.00	0	,
  DPH1	0.00	0	,
  DPM1	0.00	0	,
  DPM2	0.00	0	,
  DPM3	0.00	0	,
  DPYD	0.00	0	,
  DRC1	0.00	0	,
  DSG1	0.00	0	,
  DSP	0.00	0	,
  DSTYK	0.00	0	,
  DUSP6	0.00	0	,
  DVL1	0.00	0	,
  DVL3	0.00	0	,
  DYM	0.00	0	,
  DYNC1H1	0.00	0	,
  DYNC2H1	0.00	0	,
  DYNC2LI1	0.00	0	,
  DYRK1A	0.00	0	,
  DZIP1L	0.00	0	,
  EARS2	0.00	0	,
  EBF3	0.00	0	,
  GLB1	0.00	0	,
  ECEL1	0.00	0	,
  EDA	0.00	0	,
  EDN1	0.00	0	,
  EDNRA	0.00	0	,
  EDNRB	0.00	0	,
  EED	0.00	0	,
  EEF1A2	0.00	0	,
  EFL1	0.00	0	,
  EFNB1	0.00	0	,
  EFTUD2	0.00	0	,
  EGR2	0.00	0	,
  EHBP1L1	0.00	0	,
  EHHADH	0.00	0	,
  EHMT1	0.00	0	,
  EIF2AK3	0.00	0	,
  EIF2B2	0.00	0	,
  EIF2B3	0.00	0	,
  EIF2S3	0.00	0	,
  EIF4A3	0.00	0	,
  EIF5A	0.00	0	,
  ELAC2	0.00	0	,
  ELMO2	0.00	0	,
  ELN	0.00	0	,
  ELOVL4	0.00	0	,
  EMC1	0.00	0	,
  EMD	0.00	0	,
  EMG1	0.00	0	,
  EML1	0.00	0	,
  EMX2	0.00	0	,
  ENPP1	0.00	0	,
  EOGT	0.00	0	,
  EP300	0.00	0	,
  EPG5	0.00	0	,
  EPHB4	0.00	0	,
  EPHX1	0.00	0	,
  ERBB3	0.00	0	,
  ERCC1	0.00	0	,
  ERCC2	0.00	0	,
  ERCC3	0.00	0	,
  ERCC4	0.00	0	,
  ERCC5	0.00	0	,
  ERCC6	0.00	0	,
  ERCC8	0.00	0	,
  ERF	0.00	0	,
  ERGIC1	0.00	0	,
  ERLIN2	0.00	0	,
  ESCO2	0.00	0	,
  ESRRG	0.00	0	,
  ETFA	0.00	0	,
  ETFB	0.00	0	,
  ETFDH	0.00	0	,
  EVC	0.00	0	,
  EVC2	0.00	0	,
  EXOC3L2	0.00	0	,
  EXOSC3	0.00	0	,
  EXPH5	0.00	0	,
  EXT1	0.00	0	,
  EXT2	0.00	0	,
  EXTL3	0.00	0	,
  EYA1	0.00	0	,
  EZH2	0.00	0	,
  FA2H	0.00	0	,
  FANCA	0.00	0	,
  FAM111A	0.00	0	,
  HYCC1	0.00	0	,
  FAM20A	0.00	0	,
  FAM20C	0.00	0	,
  FANCB	0.00	0	,
  FANCC	0.00	0	,
  FANCD2	0.00	0	,
  FANCE	0.00	0	,
  FANCF	0.00	0	,
  FANCG	0.00	0	,
  FANCI	0.00	0	,
  FANCL	0.00	0	,
  FANCM	0.00	0	,
  FAR1	0.00	0	,
  FAT4	0.00	0	,
  FBLN5	0.00	0	,
  FBN1	0.00	0	,
  FBN2	0.00	0	,
  FBXL4	0.00	0	,
  FEZF1	0.00	0	,
  FGD1	0.00	0	,
  FGF10	0.00	0	,
  FGF17	0.00	0	,
  FGF3	0.00	0	,
  FGF8	0.00	0	,
  FGF9	0.00	0	,
  FGFR1	0.00	0	,
  FGFR2	0.00	0	,
  FGFR3	0.00	0	,
  FGG	0.00	0	,
  FH	0.00	0	,
  FIG4	0.00	0	,
  FKBP10	0.00	0	,
  FKBP14	0.00	0	,
  FKBP8	0.00	0	,
  FKRP	0.00	0	,
  FKTN	0.00	0	,
  FLNA	0.00	0	,
  FLNB	0.00	0	,
  FLNC	0.00	0	,
  FLRT3	0.00	0	,
  FLT4	0.00	0	,
  FLVCR2	0.00	0	,
  FMN2	0.00	0	,
  FN1	0.00	0	,
  FOLR1	0.00	0	,
  FOXC1	0.00	0	,
  FOXC2	0.00	0	,
  FOXE1	0.00	0	,
  FOXE3	0.00	0	,
  FOXF1	0.00	0	,
  FOXG1	0.00	0	,
  FOXL2	0.00	0	,
  FOXP2	0.00	0	,
  FOXP3	0.00	0	,
  FOXP4	0.00	0	,
  FOXRED1	0.00	0	,
  FRAS1	0.00	0	,
  FREM1	0.00	0	,
  FREM2	0.00	0	,
  FRMD4A	0.00	0	,
  FRMPD4	0.00	0	,
  FRRS1L	0.00	0	,
  FTL	0.00	0	,
  FTO	0.00	0	,
  FUCA1	0.00	0	,
  FUT8	0.00	0	,
  FUZ	0.00	0	,
  FYCO1	0.00	0	,
  FZD2	0.00	0	,
  FZD5	0.00	0	,
  G6PC3	0.00	0	,
  GAA	0.00	0	,
  GABRA1	0.00	0	,
  GABRB2	0.00	0	,
  GABRG2	0.00	0	,
  GALC	0.00	0	,
  GALE	0.00	0	,
  GALK1	0.00	0	,
  GALNS	0.00	0	,
  GALNT2	0.00	0	,
  GANAB	0.00	0	,
  GATA1	0.00	0	,
  GATA2	0.00	0	,
  GATA3	0.00	0	,
  GATA4	0.00	0	,
  GATA6	0.00	0	,
  GBA1	0.00	0	,
  GBA2	0.00	0	,
  GBE1	0.00	0	,
  GCDH	0.00	0	,
  GCSH	0.00	0	,
  GDF1	0.00	0	,
  GDF3	0.00	0	,
  GDF5	0.00	0	,
  GDF6	0.00	0	,
  GFAP	0.00	0	,
  GFM1	0.00	0	,
  GFPT1	0.00	0	,
  GFRA1	0.00	0	,
  GJA1	0.00	0	,
  GJA3	0.00	0	,
  GJA8	0.00	0	,
  GJB2	0.00	0	,
  GJC2	0.00	0	,
  GLA	0.00	0	,
  GLDC	0.00	0	,
  GLDN	0.00	0	,
  GLE1	0.00	0	,
  GLI1	0.00	0	,
  GLI2	0.00	0	,
  GLI3	0.00	0	,
  GLIS2	0.00	0	,
  GLIS3	0.00	0	,
  GLUL	0.00	0	,
  GM2A	0.00	0	,
  GMNN	0.00	0	,
  GMPPB	0.00	0	,
  GNA11	0.00	0	,
  GNA14	0.00	0	,
  GNAI1	0.00	0	,
  GNAI3	0.00	0	,
  GNAO1	0.00	0	,
  GNAQ	0.00	0	,
  GNAS	0.00	0	,
  GNB1	0.00	0	,
  GNB5	0.00	0	,
  GNPAT	0.00	0	,
  GNPTAB	0.00	0	,
  GNPTG	0.00	0	,
  GNS	0.00	0	,
  GORAB	0.00	0	,
  GP1BB	0.00	0	,
  GPAA1	0.00	0	,
  GPC3	0.00	0	,
  GPC6	0.00	0	,
  GPI	0.00	0	,
  GPKOW	0.00	0	,
  GPSM2	0.00	0	,
  GPX4	0.00	0	,
  GREB1L	0.00	0	,
  GRHL2	0.00	0	,
  GRHL3	0.00	0	,
  GRIN1	0.00	0	,
  GRIN2B	0.00	0	,
  GRIN2D	0.00	0	,
  GRIP1	0.00	0	,
  GRM1	0.00	0	,
  GSC	0.00	0	,
  GSPT2	0.00	0	,
  GTF2E2	0.00	0	,
  GTF2H5	0.00	0	,
  GTPBP3	0.00	0	,
  GUCY2C	0.00	0	,
  GUCY2D	0.00	0	,
  GUSB	0.00	0	,
  GZF1	0.00	0	,
  H1-4	0.00	0	,
  H4C3	0.00	0	,
  HAAO	0.00	0	,
  HADHA	0.00	0	,
  HADHB	0.00	0	,
  HBA1	0.00	0	,
  HBA2	0.00	0	,
  HCCS	0.00	0	,
  HCFC1	0.00	0	,
  HDAC8	0.00	0	,
  HES7	0.00	0	,
  HESX1	0.00	0	,
  HGSNAT	0.00	0	,
  HIBCH	0.00	0	,
  HIRA	0.00	0	,
  HIVEP2	0.00	0	,
  HLX	0.00	0	,
  HMGA2	0.00	0	,
  HMX1	0.00	0	,
  HNF1B	0.00	0	,
  HNF4A	0.00	0	,
  HNRNPH2	0.00	0	,
  HNRNPK	0.00	0	,
  HOXA1	0.00	0	,
  HOXA11	0.00	0	,
  HOXA13	0.00	0	,
  HOXA2	0.00	0	,
  HOXB1	0.00	0	,
  HOXD13	0.00	0	,
  HPD	0.00	0	,
  HPGD	0.00	0	,
  HPSE2	0.00	0	,
  HR	0.00	0	,
  HRAS	0.00	0	,
  HS6ST1	0.00	0	,
  HSD17B3	0.00	0	,
  HSD17B4	0.00	0	,
  HSF4	0.00	0	,
  HSPD1	0.00	0	,
  HSPG2	0.00	0	,
  HUWE1	0.00	0	,
  HYAL1	0.00	0	,
  HYLS1	0.00	0	,
  IARS1	0.00	0	,
  IBA57	0.00	0	,
  IDH1	0.00	0	,
  IDS	0.00	0	,
  IDUA	0.00	0	,
  IER3IP1	0.00	0	,
  IFIH1	0.00	0	,
  IFITM5	0.00	0	,
  IFT122	0.00	0	,
  IFT140	0.00	0	,
  IFT172	0.00	0	,
  IFT27	0.00	0	,
  IFT43	0.00	0	,
  IFT52	0.00	0	,
  IFT80	0.00	0	,
  IFT81	0.00	0	,
  IFT88	0.00	0	,
  IGBP1	0.00	0	,
  IGF1	0.00	0	,
  IGF1R	0.00	0	,
  IGF2	0.00	0	,
  IGFBP7	0.00	0	,
  IGHMBP2	0.00	0	,
  IHH	0.00	0	,
  IKBKG	0.00	0	,
  IL11RA	0.00	0	,
  IL17RD	0.00	0	,
  IL1RAPL1	0.00	0	,
  BPNT2	0.00	0	,
  IMPDH1	0.00	0	,
  INCENP	0.00	0	,
  INPP5B	0.00	0	,
  INPP5E	0.00	0	,
  INPP5K	0.00	0	,
  INPPL1	0.00	0	,
  INSR	0.00	0	,
  INTU	0.00	0	,
  INVS	0.00	0	,
  IQCB1	0.00	0	,
  IRF6	0.00	0	,
  IRX1	0.00	0	,
  IRX5	0.00	0	,
  ITCH	0.00	0	,
  ITGA3	0.00	0	,
  ITGA6	0.00	0	,
  ITGA8	0.00	0	,
  ITGB4	0.00	0	,
  ITPR1	0.00	0	,
  JAG1	0.00	0	,
  JAM3	0.00	0	,
  JUP	0.00	0	,
  KANSL1	0.00	0	,
  KAT6A	0.00	0	,
  KAT6B	0.00	0	,
  KATNB1	0.00	0	,
  KCNA1	0.00	0	,
  KCNC3	0.00	0	,
  KCNH1	0.00	0	,
  KCNJ1	0.00	0	,
  KCNJ13	0.00	0	,
  KCNJ2	0.00	0	,
  KCNJ6	0.00	0	,
  KCNJ8	0.00	0	,
  KCNK9	0.00	0	,
  KCNQ2	0.00	0	,
  KCNQ5	0.00	0	,
  KCNT1	0.00	0	,
  KCTD1	0.00	0	,
  KCTD7	0.00	0	,
  KDM1A	0.00	0	,
  KDM5C	0.00	0	,
  KDM6A	0.00	0	,
  KATNIP	0.00	0	,
  KIAA0586	0.00	0	,
  KIAA0753	0.00	0	,
  BLTP1	0.00	0	,
  KIDINS220	0.00	0	,
  KIF11	0.00	0	,
  KIF14	0.00	0	,
  KIF1A	0.00	0	,
  KIF22	0.00	0	,
  KIF26B	0.00	0	,
  KIF2A	0.00	0	,
  KIF5C	0.00	0	,
  KIF7	0.00	0	,
  KIFBP	0.00	0	,
  KISS1R	0.00	0	,
  KLF1	0.00	0	,
  KLHL40	0.00	0	,
  KLHL41	0.00	0	,
  KLHL7	0.00	0	,
  KMT2A	0.00	0	,
  KMT2B	0.00	0	,
  KMT2C	0.00	0	,
  KMT2D	0.00	0	,
  KNL1	0.00	0	,
  KPTN	0.00	0	,
  KRAS	0.00	0	,
  KRIT1	0.00	0	,
  KRT74	0.00	0	,
  KYNU	0.00	0	,
  L1CAM	0.00	0	,
  L2HGDH	0.00	0	,
  LAGE3	0.00	0	,
  LAMA1	0.00	0	,
  LAMA2	0.00	0	,
  LAMA5	0.00	0	,
  LAMB1	0.00	0	,
  LAMC3	0.00	0	,
  LARGE1	0.00	0	,
  LARP7	0.00	0	,
  LARS2	0.00	0	,
  LBR	0.00	0	,
  LCA5	0.00	0	,
  LEMD3	0.00	0	,
  LFNG	0.00	0	,
  LGI4	0.00	0	,
  LHB	0.00	0	,
  LHX3	0.00	0	,
  LHX4	0.00	0	,
  LIAS	0.00	0	,
  LIFR	0.00	0	,
  LIG4	0.00	0	,
  LINS1	0.00	0	,
  LIPA	0.00	0	,
  LIPN	0.00	0	,
  LIPT1	0.00	0	,
  LIPT2	0.00	0	,
  LMBR1	0.00	0	,
  LMBRD1	0.00	0	,
  LMNA	0.00	0	,
  LMNB1	0.00	0	,
  LMNB2	0.00	0	,
  LMOD3	0.00	0	,
  LMX1B	0.00	0	,
  LONP1	0.00	0	,
  LRAT	0.00	0	,
  LRBA	0.00	0	,
  LRIG2	0.00	0	,
  LRIT3	0.00	0	,
  LRP2	0.00	0	,
  CORIN	0.00	0	,
  LRP5	0.00	0	,
  LRRC56	0.00	0	,
  DNAAF11	0.00	0	,
  LTBP3	0.00	0	,
  LTBP4	0.00	0	,
  LYST	0.00	0	,
  LZTFL1	0.00	0	,
  LZTR1	0.00	0	,
  MAB21L2	0.00	0	,
  MACF1	0.00	0	,
  MAF	0.00	0	,
  MAFB	0.00	0	,
  MAGEL2	0.00	0	,
  MAMLD1	0.00	0	,
  MAN1B1	0.00	0	,
  MANBA	0.00	0	,
  MAP2K1	0.00	0	,
  MAP2K2	0.00	0	,
  MAP3K1	0.00	0	,
  MAP3K20	0.00	0	,
  MAP3K7	0.00	0	,
  MAPKBP1	0.00	0	,
  MAPRE2	0.00	0	,
  MASP1	0.00	0	,
  MAT1A	0.00	0	,
  MATN3	0.00	0	,
  MBOAT7	0.00	0	,
  MBTPS2	0.00	0	,
  MCOLN1	0.00	0	,
  MCPH1	0.00	0	,
  MDH2	0.00	0	,
  MECOM	0.00	0	,
  MECP2	0.00	0	,
  MECR	0.00	0	,
  MED12	0.00	0	,
  MED13L	0.00	0	,
  MED17	0.00	0	,
  MED28	0.00	0	,
  MEF2C	0.00	0	,
  MEGF10	0.00	0	,
  MEGF8	0.00	0	,
  MEIS2	0.00	0	,
  MEOX1	0.00	0	,
  MESD	0.00	0	,
  MESP2	0.00	0	,
  MFSD2A	0.00	0	,
  MGP	0.00	0	,
  MID1	0.00	0	,
  MIPOL1	0.00	0	,
  MITF	0.00	0	,
  MKKS	0.00	0	,
  MKS1	0.00	0	,
  MLC1	0.00	0	,
  MLH1	0.00	0	,
  MLYCD	0.00	0	,
  MMACHC	0.00	0	,
  MMADHC	0.00	0	,
  MMP13	0.00	0	,
  MMP15	0.00	0	,
  MMP21	0.00	0	,
  MN1	0.00	0	,
  MNX1	0.00	0	,
  MOCOS	0.00	0	,
  MOCS1	0.00	0	,
  MOCS2	0.00	0	,
  MOGS	0.00	0	,
  MPDU1	0.00	0	,
  MPDZ	0.00	0	,
  MPL	0.00	0	,
  MPLKIP	0.00	0	,
  MPZ	0.00	0	,
  MRAS	0.00	0	,
  MRPS16	0.00	0	,
  MRPS22	0.00	0	,
  MRPS34	0.00	0	,
  MSH2	0.00	0	,
  MSH6	0.00	0	,
  MSL3	0.00	0	,
  MSMO1	0.00	0	,
  MSTO1	0.00	0	,
  MSX1	0.00	0	,
  MSX2	0.00	0	,
  MTM1	0.00	0	,
  MTO1	0.00	0	,
  MTOR	0.00	0	,
  MUSK	0.00	0	,
  MVK	0.00	0	,
  MYBPC1	0.00	0	,
  MYCN	0.00	0	,
  MYH10	0.00	0	,
  MYH11	0.00	0	,
  MYH2	0.00	0	,
  MYH3	0.00	0	,
  MYH6	0.00	0	,
  MYH7	0.00	0	,
  MYH8	0.00	0	,
  MYH9	0.00	0	,
  MYL1	0.00	0	,
  MYL9	0.00	0	,
  MYLK	0.00	0	,
  MYMK	0.00	0	,
  MYO18B	0.00	0	,
  MYO9A	0.00	0	,
  MYOCD	0.00	0	,
  MYOD1	0.00	0	,
  MYPN	0.00	0	,
  MYRF	0.00	0	,
  MYT1	0.00	0	,
  NAA10	0.00	0	,
  NAA15	0.00	0	,
  NACC1	0.00	0	,
  NADSYN1	0.00	0	,
  NAGA	0.00	0	,
  NAGLU	0.00	0	,
  NALCN	0.00	0	,
  NANS	0.00	0	,
  NAXE	0.00	0	,
  NBAS	0.00	0	,
  NBN	0.00	0	,
  NDE1	0.00	0	,
  NDP	0.00	0	,
  NDUFA10	0.00	0	,
  NDUFAF2	0.00	0	,
  NDUFAF5	0.00	0	,
  NDUFB11	0.00	0	,
  NEB	0.00	0	,
  NECTIN1	0.00	0	,
  NECTIN4	0.00	0	,
  NEDD4L	0.00	0	,
  NEK1	0.00	0	,
  NEK9	0.00	0	,
  NEU1	0.00	0	,
  NEXMIF	0.00	0	,
  NF1	0.00	0	,
  NFIX	0.00	0	,
  NHEJ1	0.00	0	,
  NHP2	0.00	0	,
  NHS	0.00	0	,
  NIN	0.00	0	,
  NIPAL4	0.00	0	,
  NIPBL	0.00	0	,
  NKX2-5	0.00	0	,
  NKX3-2	0.00	0	,
  NKX6-2	0.00	0	,
  NLRC4	0.00	0	,
  RMRP	0.00	0	,
  NMNAT1	0.00	0	,
  NMNAT2	0.00	0	,
  NODAL	0.00	0	,
  NOG	0.00	0	,
  NONO	0.00	0	,
  NOTCH1	0.00	0	,
  NOTCH2	0.00	0	,
  NOVA2	0.00	0	,
  NPC1	0.00	0	,
  NPC2	0.00	0	,
  NPHP1	0.00	0	,
  NPHP3	0.00	0	,
  NPHP4	0.00	0	,
  NPHS1	0.00	0	,
  NPRL2	0.00	0	,
  NR0B1	0.00	0	,
  NR2F2	0.00	0	,
  NR5A1	0.00	0	,
  NRAS	0.00	0	,
  NRXN2	0.00	0	,
  NSD1	0.00	0	,
  NSDHL	0.00	0	,
  NSMF	0.00	0	,
  NSUN2	0.00	0	,
  NT5C2	0.00	0	,
  NTRK2	0.00	0	,
  NUAK2	0.00	0	,
  NUBPL	0.00	0	,
  NUP107	0.00	0	,
  NUP62	0.00	0	,
  NUP88	0.00	0	,
  NUS1	0.00	0	,
  NXN	0.00	0	,
  OBSL1	0.00	0	,
  OCLN	0.00	0	,
  OCRL	0.00	0	,
  ODC1	0.00	0	,
  OFD1	0.00	0	,
  OPHN1	0.00	0	,
  SLC25A15	0.00	0	,
  ORC4	0.00	0	,
  ORC6	0.00	0	,
  OSGEP	0.00	0	,
  OSTM1	0.00	0	,
  OTUD5	0.00	0	,
  OTUD6B	0.00	0	,
  OTX2	0.00	0	,
  P3H1	0.00	0	,
  P4HB	0.00	0	,
  PACS1	0.00	0	,
  PAFAH1B1	0.00	0	,
  PAICS	0.00	0	,
  PAK3	0.00	0	,
  PALB2	0.00	0	,
  PAPSS2	0.00	0	,
  PARN	0.00	0	,
  PAX2	0.00	0	,
  PAX3	0.00	0	,
  PAX6	0.00	0	,
  PAX7	0.00	0	,
  PAX8	0.00	0	,
  PBX1	0.00	0	,
  PCGF2	0.00	0	,
  PCNT	0.00	0	,
  PCYT1A	0.00	0	,
  PDCD10	0.00	0	,
  PDE10A	0.00	0	,
  PDE4D	0.00	0	,
  PDE6D	0.00	0	,
  PDE6H	0.00	0	,
  PDGFB	0.00	0	,
  PDGFRB	0.00	0	,
  PDHA1	0.00	0	,
  PDHB	0.00	0	,
  PDHX	0.00	0	,
  PDSS1	0.00	0	,
  PDYN	0.00	0	,
  PEPD	0.00	0	,
  PET100	0.00	0	,
  PEX1	0.00	0	,
  PEX10	0.00	0	,
  PEX11B	0.00	0	,
  PEX12	0.00	0	,
  PEX13	0.00	0	,
  PEX14	0.00	0	,
  PEX16	0.00	0	,
  PEX19	0.00	0	,
  PEX2	0.00	0	,
  PEX26	0.00	0	,
  PEX3	0.00	0	,
  PEX5	0.00	0	,
  PEX6	0.00	0	,
  PEX7	0.00	0	,
  PFKM	0.00	0	,
  PGAP1	0.00	0	,
  PGAP2	0.00	0	,
  PGAP3	0.00	0	,
  PGM1	0.00	0	,
  PGM3	0.00	0	,
  PHF21A	0.00	0	,
  PHF6	0.00	0	,
  PHF8	0.00	0	,
  PHGDH	0.00	0	,
  PHIP	0.00	0	,
  PHOX2B	0.00	0	,
  PIBF1	0.00	0	,
  PIEZO1	0.00	0	,
  PIEZO2	0.00	0	,
  PIGA	0.00	0	,
  PIGG	0.00	0	,
  PIGL	0.00	0	,
  PIGN	0.00	0	,
  PIGO	0.00	0	,
  PIGS	0.00	0	,
  PIGT	0.00	0	,
  PIGV	0.00	0	,
  PIGY	0.00	0	,
  DNAAF6	0.00	0	,
  PIK3C2A	0.00	0	,
  PIK3CA	0.00	0	,
  PIK3R1	0.00	0	,
  PIK3R2	0.00	0	,
  PIP5K1C	0.00	0	,
  PITX1	0.00	0	,
  PITX2	0.00	0	,
  PITX3	0.00	0	,
  PKD1	0.00	0	,
  PKD1L1	0.00	0	,
  PKD2	0.00	0	,
  PKHD1	0.00	0	,
  PKLR	0.00	0	,
  PLAA	0.00	0	,
  PLAG1	0.00	0	,
  PLCB1	0.00	0	,
  PLCB4	0.00	0	,
  PRKCSH	0.00	0	,
  PLEC	0.00	0	,
  PLG	0.00	0	,
  PLK4	0.00	0	,
  PLOD1	0.00	0	,
  PLOD2	0.00	0	,
  PLOD3	0.00	0	,
  PLP1	0.00	0	,
  PLPBP	0.00	0	,
  PMM2	0.00	0	,
  PMP22	0.00	0	,
  PMS2	0.00	0	,
  PNKP	0.00	0	,
  PNPLA1	0.00	0	,
  POC1A	0.00	0	,
  POGZ	0.00	0	,
  POLE	0.00	0	,
  POLG2	0.00	0	,
  POLR1A	0.00	0	,
  POLR1B	0.00	0	,
  POLR1C	0.00	0	,
  POLR1D	0.00	0	,
  POLR3A	0.00	0	,
  POLR3B	0.00	0	,
  POMGNT1	0.00	0	,
  POMGNT2	0.00	0	,
  POMK	0.00	0	,
  POMT1	0.00	0	,
  POMT2	0.00	0	,
  BVES	0.00	0	,
  PORCN	0.00	0	,
  POU1F1	0.00	0	,
  PPIB	0.00	0	,
  PPP1CB	0.00	0	,
  PPP2R1A	0.00	0	,
  PPP2R5D	0.00	0	,
  PPP3CA	0.00	0	,
  PQBP1	0.00	0	,
  PRDM5	0.00	0	,
  PREPL	0.00	0	,
  PRG4	0.00	0	,
  PRIM1	0.00	0	,
  PRKAG2	0.00	0	,
  PRKAR1A	0.00	0	,
  PRKD1	0.00	0	,
  PRMT7	0.00	0	,
  PROK2	0.00	0	,
  PROKR2	0.00	0	,
  PROP1	0.00	0	,
  PRR12	0.00	0	,
  PRRX1	0.00	0	,
  PRSS56	0.00	0	,
  PRUNE1	0.00	0	,
  PRX	0.00	0	,
  PSAP	0.00	0	,
  PSAT1	0.00	0	,
  PSPH	0.00	0	,
  PTCH1	0.00	0	,
  PTCH2	0.00	0	,
  PTDSS1	0.00	0	,
  PTEN	0.00	0	,
  PTF1A	0.00	0	,
  PTH	0.00	0	,
  PTH1R	0.00	0	,
  PTHLH	0.00	0	,
  PTPN11	0.00	0	,
  PTPN14	0.00	0	,
  PTS	0.00	0	,
  PUF60	0.00	0	,
  PXDN	0.00	0	,
  PYCR1	0.00	0	,
  PYCR2	0.00	0	,
  PYGM	0.00	0	,
  PYROXD1	0.00	0	,
  QARS1	0.00	0	,
  QRICH1	0.00	0	,
  RAB11A	0.00	0	,
  RAB11B	0.00	0	,
  RAB18	0.00	0	,
  RAB23	0.00	0	,
  RAB33B	0.00	0	,
  RAB3GAP1	0.00	0	,
  RAB3GAP2	0.00	0	,
  RAB40AL	0.00	0	,
  RAC1	0.00	0	,
  NCOA3	0.00	0	,
  RAD21	0.00	0	,
  RAD51	0.00	0	,
  RAD51C	0.00	0	,
  RAF1	0.00	0	,
  RAI1	0.00	0	,
  RAPSN	0.00	0	,
  RARB	0.00	0	,
  RARS2	0.00	0	,
  RASA1	0.00	0	,
  PRKRA	0.00	0	,
  RB1	0.00	0	,
  RBBP8	0.00	0	,
  RBM10	0.00	0	,
  RBM8A	0.00	0	,
  RBPJ	0.00	0	,
  RCOR1	0.00	0	,
  RD3	0.00	0	,
  RDH12	0.00	0	,
  RECQL4	0.00	0	,
  RELN	0.00	0	,
  REN	0.00	0	,
  RERE	0.00	0	,
  RET	0.00	0	,
  RFT1	0.00	0	,
  RFX6	0.00	0	,
  RIN2	0.00	0	,
  RIPK4	0.00	0	,
  RIT1	0.00	0	,
  RLIM	0.00	0	,
  RMND1	0.00	0	,
  RNASEH2A	0.00	0	,
  RNASEH2B	0.00	0	,
  RNASEH2C	0.00	0	,
  RNASET2	0.00	0	,
  ROBO1	0.00	0	,
  ROBO3	0.00	0	,
  ROGDI	0.00	0	,
  ROR2	0.00	0	,
  RORA	0.00	0	,
  RPE65	0.00	0	,
  RPGRIP1	0.00	0	,
  RPGRIP1L	0.00	0	,
  RPL15	0.00	0	,
  RPL11	0.00	0	,
  RPL26	0.00	0	,
  RPL35A	0.00	0	,
  RPL5	0.00	0	,
  RPS10	0.00	0	,
  RPS17	0.00	0	,
  RPS19	0.00	0	,
  RPS23	0.00	0	,
  RPS24	0.00	0	,
  RPS26	0.00	0	,
  RPS6KA3	0.00	0	,
  RPS7	0.00	0	,
  RRAS	0.00	0	,
  RRAS2	0.00	0	,
  RRM2B	0.00	0	,
  RSPH4A	0.00	0	,
  RSPH9	0.00	0	,
  RSPRY1	0.00	0	,
  RTEL1	0.00	0	,
  RTTN	0.00	0	,
  RUNX2	0.00	0	,
  RXYLT1	0.00	0	,
  RYR1	0.00	0	,
  SACS	0.00	0	,
  SALL1	0.00	0	,
  SALL4	0.00	0	,
  SAMD9	0.00	0	,
  SAMHD1	0.00	0	,
  SASS6	0.00	0	,
  SATB2	0.00	0	,
  SBDS	0.00	0	,
  SC5D	0.00	0	,
  SCARF2	0.00	0	,
  SCLT1	0.00	0	,
  SCN1A	0.00	0	,
  SCN2A	0.00	0	,
  SCN3A	0.00	0	,
  SCN4A	0.00	0	,
  SCO2	0.00	0	,
  SCUBE3	0.00	0	,
  SCYL1	0.00	0	,
  SDCCAG8	0.00	0	,
  SDR9C7	0.00	0	,
  SEC23A	0.00	0	,
  SEC23B	0.00	0	,
  SEC24D	0.00	0	,
  SEC61B	0.00	0	,
  SECISBP2	0.00	0	,
  SELENON	0.00	0	,
  SEMA3A	0.00	0	,
  SEMA3E	0.00	0	,
  SEPSECS	0.00	0	,
  SEPTIN9	0.00	0	,
  SERPINF1	0.00	0	,
  SERPINH1	0.00	0	,
  SET	0.00	0	,
  SETBP1	0.00	0	,
  SETD1A	0.00	0	,
  SETD1B	0.00	0	,
  SETD2	0.00	0	,
  SETD5	0.00	0	,
  SF3B4	0.00	0	,
  SGCG	0.00	0	,
  SGPL1	0.00	0	,
  SGSH	0.00	0	,
  SH3PXD2B	0.00	0	,
  SHANK1	0.00	0	,
  SHANK2	0.00	0	,
  SHANK3	0.00	0	,
  SHH	0.00	0	,
  SHOC2	0.00	0	,
  SHOX	0.00	0	,
  SHROOM3	0.00	0	,
  SIK3	0.00	0	,
  SIL1	0.00	0	,
  SIN3A	0.00	0	,
  SIX1	0.00	0	,
  SIX3	0.00	0	,
  SIX5	0.00	0	,
  SIX6	0.00	0	,
  HHAT	0.00	0	,
  SLC10A7	0.00	0	,
  SLC12A1	0.00	0	,
  SLC12A6	0.00	0	,
  SLC13A5	0.00	0	,
  SLC16A2	0.00	0	,
  SLC17A5	0.00	0	,
  SLC18A3	0.00	0	,
  SLC1A2	0.00	0	,
  SLC20A1	0.00	0	,
  SLC20A2	0.00	0	,
  SLC24A4	0.00	0	,
  SLC25A19	0.00	0	,
  SLC25A20	0.00	0	,
  SLC25A22	0.00	0	,
  SLC25A24	0.00	0	,
  SLC25A38	0.00	0	,
  SLC25A4	0.00	0	,
  SLC26A2	0.00	0	,
  SLC26A3	0.00	0	,
  SLC27A4	0.00	0	,
  SLC29A3	0.00	0	,
  SLC2A10	0.00	0	,
  SLC33A1	0.00	0	,
  SLC35A1	0.00	0	,
  SLC35A2	0.00	0	,
  SLC35A3	0.00	0	,
  SLC35C1	0.00	0	,
  SLC35D1	0.00	0	,
  SLC39A8	0.00	0	,
  SLC45A1	0.00	0	,
  SLC5A7	0.00	0	,
  SLC6A17	0.00	0	,
  SLC6A8	0.00	0	,
  SLC6A9	0.00	0	,
  SLC7A9	0.00	0	,
  SLC9A6	0.00	0	,
  SLIT2	0.00	0	,
  SLX4	0.00	0	,
  SMAD3	0.00	0	,
  SMAD4	0.00	0	,
  SMARCA2	0.00	0	,
  SMARCA4	0.00	0	,
  SMARCB1	0.00	0	,
  SMARCC1	0.00	0	,
  SMARCE1	0.00	0	,
  SMC1A	0.00	0	,
  SMC3	0.00	0	,
  SMCHD1	0.00	0	,
  SMG9	0.00	0	,
  SMN1	0.00	0	,
  SMO	0.00	0	,
  SMOC1	0.00	0	,
  SMOC2	0.00	0	,
  SMPD1	0.00	0	,
  SMPD4	0.00	0	,
  SNAP25	0.00	0	,
  SNAP29	0.00	0	,
  SNIP1	0.00	0	,
  SNRPB	0.00	0	,
  SNRPE	0.00	0	,
  SNX10	0.00	0	,
  SNX14	0.00	0	,
  SON	0.00	0	,
  SOS1	0.00	0	,
  SOS2	0.00	0	,
  SOST	0.00	0	,
  SOX10	0.00	0	,
  SOX11	0.00	0	,
  SOX17	0.00	0	,
  SOX18	0.00	0	,
  SOX2	0.00	0	,
  SOX3	0.00	0	,
  SOX5	0.00	0	,
  SOX6	0.00	0	,
  SOX9	0.00	0	,
  SP7	0.00	0	,
  SPAG1	0.00	0	,
  SPARC	0.00	0	,
  AFG2A	0.00	0	,
  SPATA7	0.00	0	,
  SPECC1L	0.00	0	,
  SPEG	0.00	0	,
  SPG11	0.00	0	,
  SPRED1	0.00	0	,
  SPRY4	0.00	0	,
  SPTAN1	0.00	0	,
  SRCAP	0.00	0	,
  SRD5A2	0.00	0	,
  SRD5A3	0.00	0	,
  SRGAP1	0.00	0	,
  SRP54	0.00	0	,
  SRY	0.00	0	,
  ST14	0.00	0	,
  ST3GAL3	0.00	0	,
  ST3GAL5	0.00	0	,
  STAC3	0.00	0	,
  STAG2	0.00	0	,
  STAMBP	0.00	0	,
  STAT3	0.00	0	,
  STAT5B	0.00	0	,
  STIL	0.00	0	,
  STRA6	0.00	0	,
  STRADA	0.00	0	,
  STS	0.00	0	,
  STX1B	0.00	0	,
  STXBP1	0.00	0	,
  SUCLG1	0.00	0	,
  SUFU	0.00	0	,
  SULT2B1	0.00	0	,
  SUMF1	0.00	0	,
  SUMO1	0.00	0	,
  SUZ12	0.00	0	,
  SYN1	0.00	0	,
  SYNE1	0.00	0	,
  SYNM	0.00	0	,
  SZT2	0.00	0	,
  TAB2	0.00	0	,
  TAC3	0.00	0	,
  TACO1	0.00	0	,
  TACR3	0.00	0	,
  TAF1	0.00	0	,
  TAF13	0.00	0	,
  TAF2	0.00	0	,
  TALDO1	0.00	0	,
  TAPT1	0.00	0	,
  WWTR1	0.00	0	,
  TBC1D1	0.00	0	,
  TBC1D20	0.00	0	,
  TBC1D23	0.00	0	,
  TBC1D24	0.00	0	,
  TBC1D32	0.00	0	,
  TBCD	0.00	0	,
  TBCE	0.00	0	,
  TBCK	0.00	0	,
  TBL1XR1	0.00	0	,
  TBR1	0.00	0	,
  TBX1	0.00	0	,
  TBX15	0.00	0	,
  TBX18	0.00	0	,
  TBX20	0.00	0	,
  TBX22	0.00	0	,
  TBX3	0.00	0	,
  TBX4	0.00	0	,
  TBX5	0.00	0	,
  TBX6	0.00	0	,
  TBXT	0.00	0	,
  TCF12	0.00	0	,
  TCF20	0.00	0	,
  TCF4	0.00	0	,
  TCIRG1	0.00	0	,
  TCOF1	0.00	0	,
  DYNLT2B	0.00	0	,
  TCTN1	0.00	0	,
  TCTN2	0.00	0	,
  TCTN3	0.00	0	,
  TECPR2	0.00	0	,
  TELO2	0.00	0	,
  TENM3	0.00	0	,
  TENT5A	0.00	0	,
  TFAP2A	0.00	0	,
  TFAP2B	0.00	0	,
  TGDS	0.00	0	,
  TGFB2	0.00	0	,
  TGFB3	0.00	0	,
  TGFBR1	0.00	0	,
  TGFBR2	0.00	0	,
  TGIF1	0.00	0	,
  TGM1	0.00	0	,
  THOC2	0.00	0	,
  THOC6	0.00	0	,
  THRA	0.00	0	,
  THSD1	0.00	0	,
  TINF2	0.00	0	,
  TLL1	0.00	0	,
  TMCO1	0.00	0	,
  TMEM107	0.00	0	,
  TMEM138	0.00	0	,
  TMEM165	0.00	0	,
  TMEM216	0.00	0	,
  TMEM231	0.00	0	,
  TMEM237	0.00	0	,
  TMEM260	0.00	0	,
  TMEM38B	0.00	0	,
  TMEM67	0.00	0	,
  TMEM70	0.00	0	,
  TMEM94	0.00	0	,
  TMEM98	0.00	0	,
  TMTC3	0.00	0	,
  TMX2	0.00	0	,
  TNC	0.00	0	,
  TNFRSF13B	0.00	0	,
  TNNI2	0.00	0	,
  TNNT1	0.00	0	,
  TNNT3	0.00	0	,
  TNXB	0.00	0	,
  TOE1	0.00	0	,
  TOP3A	0.00	0	,
  TOR1A	0.00	0	,
  TP53RK	0.00	0	,
  TP63	0.00	0	,
  TPM2	0.00	0	,
  TPM3	0.00	0	,
  TRAF3IP1	0.00	0	,
  TRAF7	0.00	0	,
  TRAIP	0.00	0	,
  TRAP1	0.00	0	,
  TRAPPC11	0.00	0	,
  TRAPPC12	0.00	0	,
  TRAPPC9	0.00	0	,
  TREM2	0.00	0	,
  TREX1	0.00	0	,
  TRIM32	0.00	0	,
  TRIM37	0.00	0	,
  TRIO	0.00	0	,
  TRIP11	0.00	0	,
  TRIP12	0.00	0	,
  TRIP13	0.00	0	,
  TRIP4	0.00	0	,
  TRMT10A	0.00	0	,
  TRMT10C	0.00	0	,
  TRPM7	0.00	0	,
  TRPS1	0.00	0	,
  TRPV3	0.00	0	,
  TRPV4	0.00	0	,
  TRPV6	0.00	0	,
  TSC1	0.00	0	,
  TSC2	0.00	0	,
  TSEN15	0.00	0	,
  TSEN2	0.00	0	,
  TSEN34	0.00	0	,
  TSEN54	0.00	0	,
  TSFM	0.00	0	,
  TSPYL1	0.00	0	,
  TTC21B	0.00	0	,
  ODAD4	0.00	0	,
  SKIC3	0.00	0	,
  TTC7A	0.00	0	,
  TTC8	0.00	0	,
  TTC9	0.00	0	,
  TTI2	0.00	0	,
  TTN	0.00	0	,
  TUBA1A	0.00	0	,
  TUBA8	0.00	0	,
  TUBB	0.00	0	,
  TUBB2A	0.00	0	,
  TUBB2B	0.00	0	,
  TUBB3	0.00	0	,
  TUBB4A	0.00	0	,
  TUBG1	0.00	0	,
  TUBGCP4	0.00	0	,
  TUBGCP6	0.00	0	,
  TUFM	0.00	0	,
  TULP1	0.00	0	,
  TWIST1	0.00	0	,
  TWIST2	0.00	0	,
  TXNDC15	0.00	0	,
  TXNL4A	0.00	0	,
  TYR	0.00	0	,
  TYROBP	0.00	0	,
  UBA1	0.00	0	,
  UBB	0.00	0	,
  UBE2T	0.00	0	,
  UBE3A	0.00	0	,
  UBE3B	0.00	0	,
  UBR1	0.00	0	,
  UBTF	0.00	0	,
  UFD1	0.00	0	,
  UMOD	0.00	0	,
  UMPS	0.00	0	,
  UNC50	0.00	0	,
  UPF3B	0.00	0	,
  UPK3A	0.00	0	,
  UQCRB	0.00	0	,
  UQCRQ	0.00	0	,
  UROS	0.00	0	,
  USP18	0.00	0	,
  USP27X	0.00	0	,
  USP9X	0.00	0	,
  UTRN	0.00	0	,
  VAMP1	0.00	0	,
  VANGL1	0.00	0	,
  VANGL2	0.00	0	,
  VAX1	0.00	0	,
  VDR	0.00	0	,
  VEGFC	0.00	0	,
  VIPAS39	0.00	0	,
  VLDLR	0.00	0	,
  VMA21	0.00	0	,
  VPS13B	0.00	0	,
  VPS33B	0.00	0	,
  VPS53	0.00	0	,
  VRK1	0.00	0	,
  VSX2	0.00	0	,
  VTI1A	0.00	0	,
  VWA2	0.00	0	,
  WASHC5	0.00	0	,
  WBP11	0.00	0	,
  WDPCP	0.00	0	,
  WDR11	0.00	0	,
  WDR19	0.00	0	,
  WDR26	0.00	0	,
  DYNC2I2	0.00	0	,
  WDR35	0.00	0	,
  WDR4	0.00	0	,
  DYNC2I1	0.00	0	,
  WDR62	0.00	0	,
  WDR73	0.00	0	,
  WDR81	0.00	0	,
  WNT1	0.00	0	,
  WNT10B	0.00	0	,
  WNT3	0.00	0	,
  WNT4	0.00	0	,
  WNT5A	0.00	0	,
  WNT7A	0.00	0	,
  WRAP53	0.00	0	,
  WT1	0.00	0	,
  WWOX	0.00	0	,
  XRCC4	0.00	0	,
  XYLT1	0.00	0	,
  XYLT2	0.00	0	,
  YAP1	0.00	0	,
  YWHAG	0.00	0	,
  YY1	0.00	0	,
  ZBTB18	0.00	0	,
  ZBTB20	0.00	0	,
  ZC4H2	0.00	0	,
  ZDHHC9	0.00	0	,
  ZEB2	0.00	0	,
  ZFP57	0.00	0	,
  ZFPM2	0.00	0	,
  ZFYVE26	0.00	0	,
  ZIC1	0.00	0	,
  ZIC2	0.00	0	,
  ZIC3	0.00	0	,
  ZMPSTE24	0.00	0	,
  ZMYND10	0.00	0	,
  ZMYND11	0.00	0	,
  ZNF423	0.00	0	,
  ZNF462	0.00	0	,
  ZNF469	0.00	0	,
  ZNF750	0.00	0	,
  ZNRF3	0.00	0	,
  ZPR1	0.00	0	,
  ZSWIM6	0.00	0	,

• 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

• Early onset epileptic encephalopathy (845 genes) - ULB
  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
  AARS2	99.75	0	No comment
  AASS	100.00	0	No comment
  ABAT	100.00	0	No comment
  ABCB1	100.00	0	No comment
  ABCC8	100.00	0	No comment
  ABCD1	97.56	0	No comment
  ACADM	99.87	0	No comment
  ACADS	97.51	0	No comment
  ACADSB	100.00	0	No comment
  ACO2	100.00	0	No comment
  ACOX1	100.00	0	No comment
  ACSF3	99.86	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
  COQ8A	99.92	0	No comment
  ADK	100.00	0	No comment
  ADRA2B	100.00	0	No comment
  ADSL	100.00	0	No comment
  AFG3L2	94.80	0	No comment
  AGA	100.00	0	No comment
  AGTR2	100.00	0	No comment
  AHI1	100.00	0	No comment
  AIFM1	99.98	0	No comment
  AIMP1	99.97	0	No comment
  AKT2	100.00	0	No comment
  AKT3	100.00	0	No comment
  ALDH18A1	100.00	0	No comment
  ALDH3A2	99.94	0	No comment
  ALDH4A1	96.50	0	No comment
  ALDH5A1	84.13	0	No comment
  ALDH7A1	100.00	0	No comment
  ALG1	78.28	0	No comment
  ALG11	100.00	0	No comment
  ALG12	100.00	0	No comment
  ALG13	99.53	0	No comment
  ALG2	99.83	0	No comment
  ALG3	93.20	0	No comment
  ALG6	100.00	0	No comment
  ALG8	100.00	0	No comment
  ALG9	98.18	0	No comment
  ALMS1	99.85	0	No comment
  AMACR	96.78	0	No comment
  AMER1	99.97	0	No comment
  AMT	100.00	0	No comment
  ANKH	100.00	0	No comment
  ANKRD11	100.00	0	No comment
  AP3B2	98.68	0	No comment
  AP4E1	99.99	0	No comment
  APTX	99.96	0	No comment
  AR	100.00	0	No comment
  ARFGEF2	100.00	0	No comment
  ARG1	100.00	0	No comment
  ARHGEF15	100.00	0	No comment
  ARHGEF9	99.92	0	No comment
  ARID1A	97.21	0	No comment
  ARID1B	98.17	0	No comment
  ARL13B	99.98	0	No comment
  ARSA	100.00	0	No comment
  SLURP1	87.81	0	No comment
  ARV1	100.00	0	No comment
  ARX	88.86	0	No comment
  ASAH1	100.00	0	No comment
  ASL	99.96	0	No comment
  ASNS	97.93	0	No comment
  ASPA	100.00	0	No comment
  ASPM	100.00	0	No comment
  ASS1	98.12	0	No comment
  ASXL1	99.93	0	No comment
  ATAD1	100.00	0	No comment
  ATIC	97.39	0	No comment
  ATN1	99.99	0	No comment
  ATP13A2	98.30	0	No comment
  ATP1A2	99.94	0	No comment
  ATP1A3	100.00	0	No comment
  ATP2A2	100.00	0	No comment
  ATP5F1A	99.63	0	No comment
  ATP6AP2	98.57	0	No comment
  ATP6V0A2	99.97	0	No comment
  ATP7A	100.00	0	No comment
  ATPAF2	100.00	0	No comment
  ANTXR1	99.97	0	No comment
  ATRX	99.89	0	No comment
  ATXN10	98.19	0	No comment
  ATXN2	93.25	0	No comment
  AUH	99.24	0	No comment
  AVPR2	99.37	0	No comment
  B3GALNT2	92.96	0	No comment
  B3GNT2	100.00	0	No comment
  B4GALT1	100.00	0	No comment
  BCAP31	99.81	0	No comment
  BCKDHA	99.90	0	No comment
  BCKDHB	100.00	0	No comment
  BCKDK	100.00	0	No comment
  BCS1L	100.00	0	No comment
  BOLA3	80.60	0	No comment
  BRAF	96.83	0	No comment
  BRAT1	99.93	0	No comment
  BRD2	94.60	0	No comment
  BSCL2	100.00	0	No comment
  BTD	100.00	0	No comment
  BUB1B	100.00	0	No comment
  TWNK	100.00	0	No comment
  C12ORF57	100.00	0	No comment
  MTRFR	100.00	0	No comment
  CPLANE1	100.00	0	No comment
  CACNA1A	99.53	0	No comment
  CACNA1D	99.81	0	No comment
  CACNA1G	99.97	0	No comment
  CACNA1H	98.10	0	No comment
  CACNA2D1	100.00	0	No comment
  CACNA2D2	95.58	0	No comment
  CACNB4	99.95	0	No comment
  CAD	100.00	0	No comment
  CARS2	98.73	0	No comment
  KNL1	97.89	0	No comment
  CASK	99.99	0	No comment
  CASQ2	99.96	0	No comment
  CASR	100.00	0	No comment
  CBL	100.00	0	No comment
  CBS	99.85	0	No comment
  CC2D2A	100.00	0	No comment
  CCBE1	99.32	0	No comment
  CCDC88C	99.64	0	No comment
  CCL2	100.00	0	No comment
  CCM2	99.47	0	No comment
  CDK5RAP2	100.00	0	No comment
  CDKL5	99.77	0	No comment
  CDON	100.00	0	No comment
  CELSR1	95.69	0	No comment
  CENPJ	100.00	0	No comment
  CEP135	99.96	0	No comment
  CEP152	100.00	0	No comment
  CEP164	99.89	0	No comment
  CEP290	100.00	0	No comment
  CEP41	100.00	0	No comment
  CEP63	100.00	0	No comment
  CERS1	87.45	0	No comment
  CHD2	100.00	0	No comment
  CHD8	100.00	0	No comment
  CHKB	99.75	0	No comment
  CHMP1A	100.00	0	No comment
  CHRNA2	99.99	0	No comment
  CHRNA4	94.66	0	No comment
  CHRNA7	97.02	0	No comment
  CHRNB2	99.44	0	No comment
  CIC	99.22	0	No comment
  CLCN1	100.00	0	No comment
  CLCN2	100.00	0	No comment
  CLCN4	100.00	0	No comment
  CLCNKA	99.99	0	No comment
  CLCNKB	99.96	0	No comment
  CLDN16	100.00	0	No comment
  CLIC2	99.96	0	No comment
  CLN3	100.00	0	No comment
  CLN5	98.80	0	No comment
  CLN6	100.00	0	No comment
  CLN8	100.00	0	No comment
  CLPP	97.95	0	No comment
  CNKSR2	99.82	0	No comment
  CNNM2	100.00	0	No comment
  CNTN2	100.00	0	No comment
  CNTNAP2	99.10	0	No comment
  COA5	100.00	0	No comment
  COG1	99.01	0	No comment
  COG4	100.00	0	No comment
  COG5	99.95	0	No comment
  COG6	100.00	0	No comment
  COG7	100.00	0	No comment
  COG8	99.96	0	No comment
  COL18A1	99.86	0	No comment
  COL4A1	98.48	0	No comment
  COL4A2	100.00	0	No comment
  COQ2	99.66	0	No comment
  COQ4	100.00	0	No comment
  COQ6	100.00	0	No comment
  COQ9	100.00	0	No comment
  COX10	100.00	0	No comment
  COX14	100.00	0	No comment
  COX15	99.99	0	No comment
  COX20	95.39	0	No comment
  COX6B1	100.00	0	No comment
  COX8A	100.00	0	No comment
  CYP2A6	100.00	0	No comment
  CYP21A2	100.00	0	No comment
  CPT1A	100.00	0	No comment
  CPT2	98.55	0	No comment
  CRH	99.37	0	No comment
  CRLF1	89.19	0	No comment
  CSNK1G1	100.00	0	No comment
  CSPP1	99.98	0	No comment
  CSTB	98.75	0	No comment
  CTC1	99.70	0	No comment
  CTSA	99.94	0	No comment
  CTSD	93.41	0	No comment
  CTSF	90.14	0	No comment
  CUL4B	99.51	0	No comment
  CYP27A1	99.38	0	No comment
  CYP27B1	99.05	0	No comment
  D2HGDH	99.95	0	No comment
  DARS2	100.00	0	No comment
  DBT	100.00	0	No comment
  DCHS1	99.86	0	No comment
  DCX	99.94	0	No comment
  DDC	100.00	0	No comment
  DDOST	100.00	0	No comment
  DDX3X	100.00	0	No comment
  DENND5A	99.04	0	No comment
  DEPDC5	100.00	0	No comment
  DHCR24	98.73	0	No comment
  DHCR7	99.97	0	No comment
  DHFR	91.86	0	No comment
  DIAPH1	99.95	0	No comment
  DLD	100.00	0	No comment
  DLGAP2	99.95	0	No comment
  DMD	99.96	0	No comment
  DNAJC5	100.00	0	No comment
  DNAJC6	99.98	0	No comment
  DNM1	93.52	0	No comment
  DNM1L	100.00	0	No comment
  DOCK6	99.15	0	No comment
  DOCK7	98.80	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	99.47	0	No comment
  DYNC1H1	99.92	0	No comment
  DYRK1A	100.00	0	No comment
  EARS2	100.00	0	No comment
  ECM1	100.00	0	No comment
  EEF1A2	99.08	0	No comment
  EFHC1	100.00	0	No comment
  EFHC2	99.79	0	No comment
  EFTUD2	99.99	0	No comment
  EHMT1	97.78	0	No comment
  EIF2B1	100.00	0	No comment
  EIF2B2	99.61	0	No comment
  EIF2B3	98.87	0	No comment
  EIF2B4	100.00	0	No comment
  EIF2B5	100.00	0	No comment
  EIF2S3	100.00	0	No comment
  ELOVL4	100.00	0	No comment
  ELP4	100.00	0	No comment
  EML1	98.26	0	No comment
  EMX2	99.97	0	No comment
  EOMES	100.00	0	No comment
  EPG5	100.00	0	No comment
  EPM2A	97.21	0	No comment
  EPRS	100.00	0	No comment
  ERBB4	100.00	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	97.84	0	No comment
  EXOC6B	99.94	0	No comment
  EXOSC3	100.00	0	No comment
  EZH2	100.00	0	No comment
  FA2H	95.71	0	No comment
  FADD	90.35	0	No comment
  HYCC1	100.00	0	No comment
  FARS2	100.00	0	No comment
  FASN	99.95	0	No comment
  FASTKD2	100.00	0	No comment
  FAT4	100.00	0	No comment
  FBXL4	100.00	0	No comment
  FGD1	99.24	0	No comment
  FGF12	99.90	0	No comment
  FGF8	94.19	0	No comment
  FGFR3	99.24	0	No comment
  FH	100.00	0	No comment
  FKRP	100.00	0	No comment
  FKTN	100.00	0	No comment
  FLNA	99.75	0	No comment
  FLVCR2	99.87	0	No comment
  FMR1	99.99	0	No comment
  FOLR1	100.00	0	No comment
  FOXG1	92.10	0	No comment
  FOXH1	100.00	0	No comment
  FOXRED1	100.00	0	No comment
  FRRS1L	82.37	0	No comment
  FTL	100.00	0	No comment
  FTO	100.00	0	No comment
  FUCA1	99.91	0	No comment
  GABBR2	96.91	0	No comment
  GABRA1	100.00	0	No comment
  GABRA3	99.59	0	No comment
  GABRB1	99.97	0	No comment
  GABRB2	100.00	0	No comment
  GABRB3	100.00	0	No comment
  GABRD	92.59	0	No comment
  GABRG2	91.70	0	No comment
  GAL	100.00	0	No comment
  GALC	98.98	0	No comment
  GALNS	94.36	0	No comment
  GAMT	97.00	0	No comment
  GATA3	100.00	0	No comment
  GATA6	87.61	0	No comment
  GATAD2B	100.00	0	No comment
  GATM	98.74	0	No comment
  GBA1	100.00	0	No comment
  GCDH	100.00	0	No comment
  GCH1	99.71	0	No comment
  GCK	99.13	0	No comment
  GCM2	100.00	0	No comment
  GCSH	73.97	0	No comment
  GFAP	100.00	0	No comment
  GFM1	100.00	0	No comment
  GJC2	96.72	0	No comment
  GLA	100.00	0	No comment
  GLB1	100.00	0	No comment
  GLDC	97.39	0	No comment
  GLI2	96.28	0	No comment
  GLI3	100.00	0	No comment
  GLRA1	100.00	0	No comment
  GLRB	100.00	0	No comment
  GLUD1	96.22	0	No comment
  GLUL	100.00	0	No comment
  GLYCTK	98.86	0	No comment
  GM2A	100.00	0	No comment
  GMPPB	100.00	0	No comment
  GNAO1	100.00	0	No comment
  GNB1	100.00	0	No comment
  GNE	100.00	0	No comment
  GNPTAB	99.91	0	No comment
  GNPTG	95.92	0	No comment
  GNS	100.00	0	No comment
  GOSR2	100.00	0	No comment
  GPC3	99.72	0	No comment
  GPHN	100.00	0	No comment
  ADGRG1	99.99	0	No comment
  ADGRV1	100.00	0	No comment
  GRIA3	99.99	0	No comment
  GRIN1	99.80	0	No comment
  GRIN2A	100.00	0	No comment
  GRIN2B	100.00	0	No comment
  GRIN2D	77.00	0	No comment
  GRINA	100.00	0	No comment
  GRN	100.00	0	No comment
  GSS	100.00	0	No comment
  GTPBP3	99.60	0	No comment
  GUF1	100.00	0	No comment
  GUSB	97.13	0	No comment
  HACE1	98.41	0	No comment
  HADH	100.00	0	No comment
  HAX1	100.00	0	No comment
  HCCS	100.00	0	No comment
  HCFC1	99.85	0	No comment
  HCN1	99.93	0	No comment
  HCN4	97.56	0	No comment
  HDAC4	99.86	0	No comment
  HDAC8	99.75	0	No comment
  HEPACAM	99.85	0	No comment
  HERC2	97.66	0	No comment
  HESX1	100.00	0	No comment
  HEXA	100.00	0	No comment
  HEXB	99.19	0	No comment
  HGSNAT	94.10	0	No comment
  HLCS	100.00	0	No comment
  HMBS	100.00	0	No comment
  HMGCL	100.00	0	No comment
  HNRNPH1	100.00	0	No comment
  HNRNPH2	100.00	0	No comment
  HNRNPU	99.82	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	95.18	0	No comment
  HTRA2	100.00	0	No comment
  HYAL1	100.00	0	No comment
  IDH2	93.11	0	No comment
  IDS	99.88	0	No comment
  IDUA	91.86	0	No comment
  IER3IP1	99.44	0	No comment
  ELP1	100.00	0	No comment
  INPP5E	99.14	0	No comment
  INS	97.76	0	No comment
  INSR	96.68	0	No comment
  IQSEC2	98.53	0	No comment
  CRPPA	95.50	0	No comment
  ITPA	100.00	0	No comment
  IVD	100.00	0	No comment
  JAM3	99.88	0	No comment
  JRK	100.00	0	No comment
  KANSL1	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	98.34	0	No comment
  KCNC1	100.00	0	No comment
  KCND2	100.00	0	No comment
  KCNH1	100.00	0	No comment
  KCNH2	98.15	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	99.93	0	No comment
  KCNQ2	99.92	0	No comment
  KCNQ3	98.20	0	No comment
  KCNT1	98.96	0	No comment
  KCNV2	100.00	0	No comment
  KCTD7	100.00	0	No comment
  KDM5C	99.97	0	No comment
  KDM6A	99.72	0	No comment
  RUBCN	96.60	0	No comment
  KIFBP	100.00	0	No comment
  NEXMIF	100.00	0	No comment
  KIF11	100.00	0	No comment
  KIF2A	99.97	0	No comment
  KIF4A	99.86	0	No comment
  KIF5C	100.00	0	No comment
  KIF7	99.64	0	No comment
  KMT2B	98.33	0	No comment
  KMT2D	99.98	0	No comment
  KPTN	100.00	0	No comment
  KRAS	100.00	0	No comment
  KRIT1	100.00	0	No comment
  L1CAM	99.98	0	No comment
  L2HGDH	99.75	0	No comment
  LAMA2	100.00	0	No comment
  LAMB1	100.00	0	No comment
  LAMC3	98.42	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	99.86	0	No comment
  LIG4	100.00	0	No comment
  LMBRD1	100.00	0	No comment
  LMNB2	95.84	0	No comment
  LRFN1	99.79	0	No comment
  LRFN2	100.00	0	No comment
  LRFN3	99.92	0	No comment
  LRFN4	98.83	0	No comment
  LRFN5	100.00	0	No comment
  LRP2	99.71	0	No comment
  LRPPRC	98.80	0	No comment
  MAGI2	94.89	0	No comment
  MAGT1	100.00	0	No comment
  MAN1B1	99.81	0	No comment
  MAP2K1	100.00	0	No comment
  MAP2K2	99.99	0	No comment
  MAPK10	100.00	0	No comment
  MBD5	100.00	0	No comment
  MBOAT7	99.93	0	No comment
  MBTPS2	100.00	0	No comment
  MCCC1	99.77	0	No comment
  MCOLN1	95.75	0	No comment
  MCPH1	99.70	0	No comment
  MDH2	94.63	0	No comment
  ME2	100.00	0	No comment
  MECP2	96.46	0	No comment
  MED12	99.98	0	No comment
  MED17	100.00	0	No comment
  MEF2C	100.00	0	No comment
  MFF	100.00	0	No comment
  MFSD8	100.00	0	No comment
  MGAT2	100.00	0	No comment
  MGME1	100.00	0	No comment
  MLC1	98.57	0	No comment
  MLYCD	96.09	0	No comment
  MMACHC	100.00	0	No comment
  MMADHC	100.00	0	No comment
  MOCS1	99.94	0	No comment
  MOCS2	100.00	0	No comment
  MOGS	98.86	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
  MMUT	99.99	0	No comment
  MYO5A	99.67	0	No comment
  NAA10	96.95	0	No comment
  NACC1	100.00	0	No comment
  NAGA	100.00	0	No comment
  NAGLU	96.69	0	No comment
  NALCN	100.00	0	No comment
  NARS2	99.88	0	No comment
  NDE1	100.00	0	No comment
  NDP	100.00	0	No comment
  NDUFA1	100.00	0	No comment
  NDUFA10	96.45	0	No comment
  NDUFA11	80.54	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	99.26	0	No comment
  NDUFAF5	99.96	0	No comment
  NDUFAF6	95.61	0	No comment
  NDUFB3	98.57	0	No comment
  NDUFS1	100.00	0	No comment
  NDUFS2	100.00	0	No comment
  NDUFS3	100.00	0	No comment
  NDUFS4	99.96	0	No comment
  NDUFS6	100.00	0	No comment
  NDUFS7	93.34	0	No comment
  NDUFS8	100.00	0	No comment
  NDUFV1	99.62	0	No comment
  NDUFV2	100.00	0	No comment
  NECAP1	100.00	0	No comment
  NEDD4L	98.66	0	No comment
  NEU1	100.00	0	No comment
  NF1	98.78	0	No comment
  NFIX	94.60	0	No comment
  NGLY1	99.96	0	No comment
  NHEJ1	100.00	0	No comment
  NHLRC1	96.01	0	No comment
  NIN	100.00	0	No comment
  NIPA2	100.00	0	No comment
  NIPBL	99.48	0	No comment
  NLGN4X	100.00	0	No comment
  NLGN4Y	60.20	0	No comment
  NODAL	99.87	0	No comment
  NOTCH3	93.46	0	No comment
  NPC1	97.50	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	99.87	0	No comment
  NSD1	100.00	0	No comment
  NSDHL	100.00	0	No comment
  NUBPL	99.92	0	No comment
  OCLN	100.00	0	No comment
  OCRL	98.81	0	No comment
  OFD1	97.13	0	No comment
  OPHN1	99.94	0	No comment
  OTC	99.17	0	No comment
  OTX2	100.00	0	No comment
  PACS2	99.96	0	No comment
  PAFAH1B1	100.00	0	No comment
  PAH	100.00	0	No comment
  PAK3	98.75	0	No comment
  PANK2	100.00	0	No comment
  PAX6	100.00	0	No comment
  PODXL	100.00	0	No comment
  PCBD1	85.60	0	No comment
  PCCA	99.94	0	No comment
  PCCB	99.54	0	No comment
  PCDH19	98.99	0	No comment
  PCNT	99.88	0	No comment
  PDCD10	100.00	0	No comment
  PDE6D	100.00	0	No comment
  PDGFB	97.18	0	No comment
  PDGFRB	99.98	0	No comment
  PDHA1	92.64	0	No comment
  PDHX	100.00	0	No comment
  PDP1	100.00	0	No comment
  PDSS1	85.11	0	No comment
  PDSS2	100.00	0	No comment
  PET100	100.00	0	No comment
  PEX1	100.00	0	No comment
  PEX10	87.10	0	No comment
  PEX11B	100.00	0	No comment
  PEX12	100.00	0	No comment
  PEX13	100.00	0	No comment
  PEX14	99.31	0	No comment
  PEX16	99.97	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	99.74	0	No comment
  PEX7	95.60	0	No comment
  PGAP2	100.00	0	No comment
  PGAP3	98.48	0	No comment
  PGK1	99.88	0	No comment
  PGM1	100.00	0	No comment
  PHF6	100.00	0	No comment
  PHGDH	100.00	0	No comment
  PIGA	98.95	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
  PIGP	100.00	0	No comment
  PIGQ	100.00	0	No comment
  PIGT	100.00	0	No comment
  PIGV	100.00	0	No comment
  PIK3AP1	99.71	0	No comment
  PIK3CA	100.00	0	No comment
  PIK3R2	88.52	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	99.84	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	99.53	0	No comment
  PPFIA1	100.00	0	No comment
  PPFIA2	100.00	0	No comment
  PPFIA3	96.20	0	No comment
  PPFIA4	100.00	0	No comment
  PPFIBP1	100.00	0	No comment
  PPFIBP2	100.00	0	No comment
  PPP2R2C	99.91	0	No comment
  PPT1	100.00	0	No comment
  PQBP1	99.91	0	No comment
  PRDM8	88.36	0	No comment
  PRF1	100.00	0	No comment
  PRICKLE1	100.00	0	No comment
  PRICKLE2	100.00	0	No comment
  PRODH	88.26	0	No comment
  PLPBP	99.89	0	No comment
  PRRT2	100.00	0	No comment
  PSAP	100.00	0	No comment
  PSAT1	99.61	0	No comment
  PSPH	100.00	0	No comment
  PTCH1	98.82	0	No comment
  PTEN	99.45	0	No comment
  PTH	100.00	0	No comment
  PTPN11	94.43	0	No comment
  PTS	99.91	0	No comment
  PURA	95.47	0	No comment
  QARS1	100.00	0	No comment
  QDPR	98.39	0	No comment
  RAB18	99.99	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	93.59	0	No comment
  RANBP2	95.47	0	No comment
  RANGAP1	100.00	0	No comment
  RARS2	100.00	0	No comment
  RBBP8	99.97	0	No comment
  RBFOX1	98.87	0	No comment
  RBFOX3	98.41	0	No comment
  RELN	100.00	0	No comment
  RFT1	99.87	0	No comment
  RGMA	100.00	0	No comment
  RHOBTB2	100.00	0	No comment
  RNASEH2A	100.00	0	No comment
  RNASEH2B	94.58	0	No comment
  RNASEH2C	100.00	0	No comment
  RNASET2	100.00	0	No comment
  ROGDI	91.40	0	No comment
  RORB	100.00	0	No comment
  RPGRIP1L	96.40	0	No comment
  RPIA	99.96	0	No comment
  RRM2B	100.00	0	No comment
  RTTN	99.98	0	No comment
  RYR3	100.00	0	No comment
  SAMHD1	100.00	0	No comment
  SATB2	99.34	0	No comment
  SCARB2	99.99	0	No comment
  SCN10A	100.00	0	No comment
  SCN1A	100.00	0	No comment
  SCN1B	87.40	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	99.99	0	No comment
  SCO2	93.85	0	No comment
  SDHA	95.31	0	No comment
  SDHAF1	90.31	0	No comment
  SEPSECS	99.57	0	No comment
  SERPINI1	100.00	0	No comment
  SETBP1	100.00	0	No comment
  SETD5	100.00	0	No comment
  SGSH	99.85	0	No comment
  SHANK3	90.31	0	No comment
  SHH	99.47	0	No comment
  SHOC2	100.00	0	No comment
  SHROOM4	99.98	0	No comment
  SIK1	100.00	0	No comment
  SIX3	99.61	0	No comment
  SLC12A5	99.86	0	No comment
  SLC12A6	100.00	0	No comment
  SLC13A5	100.00	0	No comment
  SLC16A1	100.00	0	No comment
  SLC16A2	99.97	0	No comment
  SLC17A5	100.00	0	No comment
  SLC19A3	99.90	0	No comment
  SLC1A2	100.00	0	No comment
  SLC1A3	100.00	0	No comment
  SLC20A2	100.00	0	No comment
  SLC25A1	98.83	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	100.00	0	No comment
  SLC2A2	99.95	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
  SLC3A2	90.78	0	No comment
  SLC46A1	99.98	0	No comment
  SLC4A10	99.99	0	No comment
  SLC6A1	100.00	0	No comment
  SLC6A19	99.98	0	No comment
  SLC6A5	100.00	0	No comment
  SLC6A8	99.41	0	No comment
  SLC6A9	100.00	0	No comment
  SLC9A6	99.66	0	No comment
  SLC9A9	100.00	0	No comment
  SMARCA1	98.12	0	No comment
  SMARCA2	98.99	0	No comment
  SMARCA4	100.00	0	No comment
  SMARCB1	100.00	0	No comment
  SMARCE1	98.46	0	No comment
  SMC1A	99.87	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	95.36	0	No comment
  SOX2	95.35	0	No comment
  SPRED1	100.00	0	No comment
  SPTAN1	100.00	0	No comment
  SRD5A3	98.61	0	No comment
  SRGAP3	100.00	0	No comment
  SRPX2	99.04	0	No comment
  ST3GAL3	100.00	0	No comment
  ST3GAL5	90.70	0	No comment
  STAMBP	100.00	0	No comment
  STIL	100.00	0	No comment
  STRADA	100.00	0	No comment
  STX1B	99.96	0	No comment
  STXBP1	100.00	0	No comment
  SUCLA2	99.86	0	No comment
  SUCLG1	93.27	0	No comment
  SUMF1	100.00	0	No comment
  SUOX	100.00	0	No comment
  SURF1	82.91	0	No comment
  SYN1	96.00	0	No comment
  SYNGAP1	99.76	0	No comment
  SYNJ1	99.72	0	No comment
  SYP	97.84	0	No comment
  SZT2	99.99	0	No comment
  TACO1	99.66	0	No comment
  TBC1D20	95.06	0	No comment
  TBC1D24	99.99	0	No comment
  TBCE	100.00	0	No comment
  TBL1XR1	100.00	0	No comment
  TBX1	83.55	0	No comment
  TCF4	100.00	0	No comment
  TCF7L2	100.00	0	No comment
  TCTN1	100.00	0	No comment
  TCTN2	100.00	0	No comment
  TCTN3	100.00	0	No comment
  TGIF1	100.00	0	No comment
  TK2	100.00	0	No comment
  TMEM138	100.00	0	No comment
  TMEM165	91.64	0	No comment
  TMEM216	99.87	0	No comment
  TMEM231	100.00	0	No comment
  TMEM237	99.85	0	No comment
  RXYLT1	100.00	0	No comment
  TMEM67	99.95	0	No comment
  TMEM70	100.00	0	No comment
  TNK2	99.86	0	No comment
  ACD	99.99	0	No comment
  TRAK1	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	99.94	0	No comment
  TSEN2	100.00	0	No comment
  TSEN34	100.00	0	No comment
  TSEN54	91.60	0	No comment
  TTC21B	100.00	0	No comment
  TTN	100.00	0	No comment
  TTR	100.00	0	No comment
  TUBA1A	100.00	0	No comment
  TUBA8	99.98	0	No comment
  TUBB2A	100.00	0	No comment
  TUBB2B	100.00	0	No comment
  TUBB3	99.01	0	No comment
  TUBB4A	100.00	0	No comment
  TUBG1	100.00	0	No comment
  TUSC3	100.00	0	No comment
  TYROBP	100.00	0	No comment
  UBA5	100.00	0	No comment
  UBE2A	100.00	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
  VARS1	100.00	0	No comment
  VDAC1	95.12	0	No comment
  VLDLR	96.00	0	No comment
  VPS13A	100.00	0	No comment
  VPS13B	100.00	0	No comment
  VPS53	100.00	0	No comment
  VRK1	100.00	0	No comment
  WDR45	100.00	0	No comment
  WDR45B	99.94	0	No comment
  WDR62	100.00	0	No comment
  WFS1	100.00	0	No comment
  WWOX	100.00	0	No comment
  XK	99.44	0	No comment
  YWHAG	100.00	0	No comment
  ZBTB18	99.54	0	No comment
  ZC4H2	100.00	0	No comment
  ZDHHC9	100.00	0	No comment
  ZEB2	99.96	0	No comment
  ZIC2	95.66	0	No comment
  ZNF335	100.00	0	No comment
  ZNF423	100.00	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

• Intellectual disability & Epilepsy - UGent
  Details

  Gene	% of coding sequence sufficiently covered to detect heterozygous mutations	Copy number variation	Comments
  AAAS	99.88	1
  AARS1	99.99	1
  AASS	99.61	1
  ABAT	99.98	1
  ABCA2	100.00	1
  ABCC8	99.98	1
  ABCC9	99.92	1
  ABCD1	99.98	1
  ABCD4	100.00	1
  ABHD16A	100.00	1
  ABHD5	99.98	1
  ACAD9	100.00	1
  ACADM	96.14	1
  ACADS	99.99	1
  ACADSB	99.93	1
  ACAT1	99.81	1
  ACO2	99.99	1
  ACOX1	99.98	1
  ACSF3	99.99	1
  ACSL4	99.59	1
  ACTB	100.00	1
  ACTG1	100.00	1
  ACTL6A	99.74	1
  ACTL6B	99.90	1
  ACVR1	99.94	1
  ACY1	100.00	1
  ADAM22	99.15	1
  ADAR	99.84	1
  ADARB1	94.29	1
  ADAT3	100.00	1
  ADD3	99.95	1
  ADGRG1	99.90	1
  ADGRL1	99.98	1
  ADGRL2	98.18	1
  ADK	99.78	1
  ADNP	100.00	1
  ADPRS	99.94	1
  ADSL	99.93	1
  AFF2	99.89	1
  AFF3	99.63	1
  AFF4	99.94	1
  AFG3L2	99.97	1
  AGA	99.92	1
  AGO1	99.73	1
  AGO2	99.97	1
  AGPAT2	100.00	1
  AGTPBP1	99.68	1
  AHCY	100.00	1
  AHDC1	100.00	1
  AHI1	99.86	1
  AIFM1	99.92	1
  AIMP1	99.97	1
  AIMP2	99.99	1
  AK1	100.00	1
  AKT3	99.81	1
  ALDH18A1	99.96	1
  ALDH3A2	99.95	1
  ALDH4A1	98.97	1
  ALDH5A1	96.19	1
  ALDH7A1	99.49	1
  ALG1	86.66	1
  ALG11	99.99	1
  ALG12	100.00	1
  ALG13	99.44	1
  ALG14	99.34	1
  ALG2	100.00	1
  ALG3	99.96	1
  ALG6	93.37	1
  ALG8	95.49	1
  ALG9	99.73	1
  ALKBH8	99.98	1
  ALMS1	99.90	1
  ALPL	99.88	1
  ALX1	97.99	1
  ALX4	100.00	1
  AMACR	100.00	1
  AMER1	100.00	1
  AMMECR1	99.87	1
  AMPD2	99.91	1
  AMT	100.00	1
  ANK2	99.98	1
  ANK3	99.79	1
  ANKLE2	99.99	1
  ANKRD11	99.85	1
  ANKRD17	99.92	1
  ANO10	99.93	1
  ANTXR1	99.83	1
  AP1G1	99.95	1
  AP1S1	99.49	1
  AP1S2	99.56	1
  AP2M1	99.69	1
  AP3B1	99.89	1
  AP3B2	100.00	1
  AP3D1	100.00	1
  AP4B1	96.92	1
  AP4E1	99.94	1
  AP4M1	99.98	1
  AP4S1	87.89	1
  AP5Z1	100.00	1
  APC2	99.98	1
  APTX	99.92	1
  ARCN1	99.92	1
  ARF1	99.99	1
  ARFGEF1	99.86	1
  ARFGEF2	99.99	1
  ARG1	99.95	1
  ARHGAP31	100.00	1
  ARHGEF9	99.89	1
  ARID1A	99.83	1
  ARID1B	99.69	1
  ARID2	99.48	1
  ARL13B	99.53	1
  ARL6	99.90	1
  ARMC9	99.77	1
  ARSA	99.99	1
  ARSL	99.93	1
  ARV1	99.85	1
  ARX	95.36	1
  ASAH1	99.90	1
  ASH1L	99.79	1
  ASL	99.98	1
  ASNS	99.63	1
  ASPA	99.98	1
  ASPM	99.57	1
  ASS1	77.52	1
  ASXL1	100.00	1
  ASXL2	99.82	1
  ASXL3	99.99	1
  ATAD1	99.85	1
  ATAD3A	99.62	1
  ATCAY	100.00	1
  ATG7	99.90	1
  ATIC	99.86	1
  ATL1	99.95	1
  ATM	99.83	1
  ATN1	99.90	1
  ATP13A2	99.96	1
  ATP1A1	98.41	1
  ATP1A2	99.85	1
  ATP1A3	99.98	1
  ATP2A2	99.98	1
  ATP2B1	99.39	1
  ATP6AP2	99.55	1
  ATP6V0A1	99.85	1
  ATP6V0A2	99.92	1
  ATP6V1A	99.73	1
  ATP6V1B2	99.99	1
  ATP7A	99.87	1
  ATP8A2	100.00	1
  ATP9A	99.99	1
  ATPAF2	99.96	1
  ATRX	99.44	1
  ATXN2	99.88	1
  AUH	99.95	1
  AUTS2	99.87	1
  AVPR2	100.00	1
  B3GALNT2	92.79	1
  B3GALT6	100.00	1
  B3GLCT	99.90	1
  B4GALNT1	99.97	1
  B4GALT1	99.97	1
  B4GALT7	99.99	1
  B4GAT1	100.00	1
  B9D1	99.80	1
  B9D2	99.88	1
  BAZ2B	99.63	1
  BBS1	100.00	1
  BBS10	99.98	1
  BBS12	100.00	1
  BBS2	99.90	1
  BBS4	99.88	1
  BBS5	99.00	1
  BBS7	99.42	1
  BBS9	99.75	1
  BCAP31	99.95	1
  BCAS3	99.31	1
  BCKDHA	99.97	1
  BCKDHB	99.73	1
  BCKDK	99.99	1
  BCL11A	99.93	1
  BCL11B	100.00	1
  BCOR	99.97	1
  BCORL1	99.99	1
  BCS1L	99.99	1
  BICD2	99.99	1
  BICRA	99.99	1
  BLM	99.80	1
  BLOC1S1	99.95	1
  BMP4	100.00	1
  BOLA3	99.22	1
  BPTF	99.84	1
  BRAF	99.78	1
  BRAT1	100.00	1
  BRD4	99.98	1
  BRF1	100.00	1
  BRPF1	100.00	1
  BRSK2	99.98	1
  BRWD3	99.40	1
  BSCL2	99.99	1
  BTD	100.00	1
  BUB1B	100.00	1
  C12ORF4	99.93	1
  C12ORF57	100.00	1
  C2CD3	99.88	1
  CA2	99.62	1
  CA5A	99.99	1
  CA8	99.71	1
  CACNA1A	98.16	1
  CACNA1B	100.00	1
  CACNA1C	100.00	1
  CACNA1D	99.98	1
  CACNA1E	99.82	1
  CACNA1G	99.95	1
  CACNA1H	100.00	1
  CACNA1I	99.98	1
  CACNA2D1	97.12	1
  CACNA2D2	99.99	1
  CACNB4	99.20	1
  CACNG2	99.99	1
  CAD	99.86	1
  CAMK2A	99.99	1
  CAMK2B	99.92	1
  CAMK2G	99.95	1
  CAMK4	99.78	1
  CAMTA1	99.97	1
  CAPN10	99.99	1
  CAPN15	99.98	1
  CARS1	99.99	1
  CARS2	99.99	1
  CASK	98.95	1
  CBL	99.95	1
  CBS	17.79	1
  CC2D1A	99.98	1
  CC2D2A	99.95	1
  CCBE1	99.52	1
  CCDC115	99.90	1
  CCDC174	99.98	1
  CCDC22	99.91	1
  CCDC47	99.97	1
  CCDC88A	99.48	1
  CCDC88C	100.00	1
  CCM2	99.93	1
  CCND2	100.00	1
  CCNK	99.93	1
  CDC42	98.05	1
  CDC42BPB	99.99	1
  CDH11	99.94	1
  CDH15	99.98	1
  CDH2	99.84	1
  CDK10	99.98	1
  CDK13	99.83	1
  CDK19	99.26	1
  CDK5RAP2	99.97	1
  CDK6	99.47	1
  CDK8	99.81	1
  CDKL5	99.88	1
  CDKN1C	100.00	1
  CDON	99.99	1
  CELF2	99.99	1
  CELSR3	99.99	1
  CENPF	99.97	1
  CENPJ	99.92	1
  CEP104	99.99	1
  CEP120	99.90	1
  CEP135	99.82	1
  CEP152	99.93	1
  CEP290	98.10	1
  CEP41	99.99	1
  CEP55	99.92	1
  CEP57	99.92	1
  CEP63	94.73	1
  CEP83	98.68	1
  CEP85L	100.00	1
  CERS1	100.00	1
  CERT1	99.66	1
  CHAMP1	99.99	1
  CHD1	99.46	1
  CHD2	99.97	1
  CHD3	99.06	1
  CHD4	99.99	1
  CHD5	99.97	1
  CHD7	99.99	1
  CHD8	99.96	1
  CHKB	100.00	1
  CHMP1A	100.00	1
  CHRNA2	99.98	1
  CHRNA4	100.00	1
  CHRNB2	99.99	1
  CIC	98.32	1
  CILK1	99.69	1
  CIT	99.99	1
  CKAP2L	99.54	1
  CLCN3	99.95	1
  CLCN4	99.98	1
  CLCNKB	99.98	1
  CLDN11	100.00	1
  CLDN16	99.98	1
  CLDN19	99.02	1
  CLIC2	99.82	1
  CLN3	99.92	1
  CLN5	100.00	1
  CLN6	100.00	1
  CLN8	100.00	1
  CLP1	99.98	1
  CLPB	99.97	1
  CLTC	99.56	1
  CNKSR2	99.54	1
  CNNM2	99.94	1
  CNOT1	99.83	1
  CNOT2	99.00	1
  CNOT3	99.99	1
  CNPY3	99.98	1
  CNTN2	99.95	1
  CNTNAP1	99.98	1
  CNTNAP2	99.99	1
  COA8	99.94	1
  COASY	99.98	1
  COG1	100.00	1
  COG4	99.96	1
  COG5	99.92	1
  COG6	99.86	1
  COG7	99.74	1
  COG8	100.00	1
  COL18A1	99.99	1
  COL4A1	99.99	1
  COL4A2	99.98	1
  COLEC11	100.00	1
  COPB1	99.87	1
  COPB2	99.83	1
  COQ2	99.90	1
  COQ4	100.00	1
  COQ5	99.95	1
  COQ8A	100.00	1
  COQ9	99.62	1
  COX10	99.99	1
  COX15	100.00	1
  COX6B1	100.00	1
  CYP2A6	99.99	1
  CPE	99.93	1
  CPLANE1	99.81	1
  CPLX1	100.00	1
  CYP21A2	99.91	1
  CPSF3	99.93	1
  CPT2	99.65	1
  CRADD	99.90	1
  CRB2	99.95	1
  CRBN	99.97	1
  CREBBP	99.97	1
  CRH	100.00	1
  CRLF1	99.99	1
  CRPPA	99.98	1
  CSDE1	97.17	1
  CSNK1G1	99.95	1
  CSNK2A1	99.96	1
  CSNK2B	99.65	1
  CSPP1	98.31	1
  CSTB	100.00	1
  CTBP1	99.98	1
  CTC1	100.00	1
  CTCF	99.87	1
  CTDP1	99.97	1
  CTNNA2	99.84	1
  CTNNB1	99.95	1
  CTNND1	99.92	1
  CTNND2	99.97	1
  CTSA	99.98	1
  CTSD	100.00	1
  CTSF	99.96	1
  CTU2	99.91	1
  CUBN	99.99	1
  CUL3	99.76	1
  CUL4B	99.67	1
  CUX1	99.37	1
  CUX2	99.96	1
  CWC27	99.67	1
  CWF19L1	99.91	1
  CYB5R3	99.93	1
  CYC1	99.86	1
  CYFIP2	100.00	1
  CYP27A1	100.00	1
  CYP2U1	99.99	1
  D2HGDH	100.00	1
  DAG1	100.00	1
  DARS1	98.85	1
  DARS2	98.31	1
  DBT	94.51	1
  DCAF17	99.84	1
  DCC	99.96	1
  DCHS1	100.00	1
  DCPS	99.98	1
  DCX	99.99	1
  DDB1	99.96	1
  DDC	99.67	1
  DDHD2	99.97	1
  DDX11	99.74	1
  DDX23	99.94	1
  DDX3X	99.01	1
  DDX59	99.67	1
  DDX6	99.88	1
  DEAF1	99.90	1
  DEGS1	99.99	1
  DENND5A	99.99	1
  DEPDC5	99.18	1
  DHCR24	99.93	1
  DHCR7	99.97	1
  DHDDS	98.65	1
  DHFR	98.89	1
  DHPS	93.17	1
  DHTKD1	99.95	1
  DHX16	99.98	1
  DHX30	99.96	1
  DHX37	99.98	1
  DIAPH1	99.95	1
  DIS3L2	99.90	1
  DKC1	99.59	1
  DLAT	99.65	1
  DLD	99.89	1
  DLG3	99.96	1
  DLG4	99.99	1
  DLL1	99.99	1
  DMD	99.76	1
  DMPK	99.93	1
  DMXL2	99.86	1
  DNAJC12	99.72	1
  DNAJC19	99.76	1
  DNAJC5	99.99	1
  DNM1	92.28	1
  DNM1L	99.40	1
  DNMT3A	100.00	1
  DNMT3B	99.98	1
  DOCK3	99.96	1
  DOCK6	100.00	1
  DOCK7	94.41	1
  DOCK8	99.86	1
  DOLK	100.00	1
  DONSON	99.99	1
  DPAGT1	100.00	1
  DPF2	99.99	1
  DPH1	100.00	1
  DPM1	90.68	1
  DPM2	100.00	1
  DPP6	99.99	1
  DPYD	94.53	1
  DPYS	99.99	1
  DPYSL5	99.93	1
  DSCAM	99.99	1
  DYM	99.96	1
  DYNC1H1	99.99	1
  DYNC1I2	98.97	1
  DYRK1A	99.98	1
  EARS2	99.96	1
  EBF3	99.99	1
  GLB1	100.00	1
  ECHS1	100.00	1
  EDC3	99.97	1
  EDEM3	98.38	1
  EED	93.81	1
  EEF1A2	100.00	1
  EFNB2	99.92	1
  EFTUD2	99.93	1
  EHMT1	98.38	1
  EIF2AK2	99.70	1
  EIF2AK3	97.43	1
  EIF2B1	99.98	1
  EIF2B2	99.90	1
  EIF2B3	97.26	1
  EIF2B4	99.96	1
  EIF2B5	99.98	1
  EIF2S3	99.34	1
  EIF3F	99.96	1
  EIF4A3	99.99	1
  EIF5A	100.00	1
  ELAC2	99.90	1
  ELOVL4	99.91	1
  ELP2	99.82	1
  EMC1	99.85	1
  EMC10	99.96	1
  EML1	99.99	1
  EMX2	100.00	1
  ENTPD1	99.98	1
  EP300	99.97	1
  EPB41L1	100.00	1
  EPG5	99.95	1
  EPHA7	99.97	1
  EPM2A	99.99	1
  EPRS1	99.53	1
  ERBB4	99.92	1
  ERCC1	99.96	1
  ERCC2	99.99	1
  ERCC3	99.90	1
  ERCC5	99.99	1
  ERCC6	99.60	1
  ERCC6L2	99.94	1
  ERCC8	99.79	1
  ERLIN2	99.94	1
  ESCO2	99.92	1
  ETFA	99.95	1
  ETFB	100.00	1
  ETFDH	99.82	1
  ETHE1	84.97	1
  EXOC2	99.97	1
  EXOC7	100.00	1
  EXOSC2	100.00	1
  EXOSC3	100.00	1
  EXOSC8	99.91	1
  EXOSC9	94.91	1
  EXT2	99.98	1
  EXTL3	99.99	1
  EZH2	99.89	1
  FA2H	99.98	1
  FAM111A	100.00	1
  HYCC1	99.81	1
  FAM149B1	99.69	1
  FAM20C	100.00	1
  FAM50A	99.99	1
  FANCD2	99.86	1
  FAR1	99.82	1
  FARS2	100.00	1
  FARSA	100.00	1
  FARSB	99.64	1
  FAT4	99.98	1
  FBRSL1	95.66	1
  FBXL3	99.48	1
  FBXL4	100.00	1
  FBXO11	99.53	1
  FBXO28	99.67	1
  FBXO31	99.99	1
  FBXW11	99.96	1
  FBXW7	99.90	1
  FDFT1	99.99	1
  FGD1	99.96	1
  FGF12	99.94	1
  FGF13	99.76	1
  FGF14	99.99	1
  FGFR1	100.00	1
  FGFR2	99.99	1
  FGFR3	100.00	1
  FH	99.95	1
  FIBP	99.83	1
  FIG4	99.83	1
  FKRP	100.00	1
  FKTN	99.94	1
  FLNA	99.99	1
  FLVCR1	99.91	1
  FLVCR2	100.00	1
  FMN2	99.99	1
  FMR1	99.56	1
  FOLR1	100.00	1
  FOXG1	99.91	1
  FOXP1	99.98	1
  FOXP2	99.98	1
  FOXRED1	100.00	1
  FRAS1	99.97	1
  FREM2	99.97	1
  FRMD4A	100.00	1
  FRMPD4	99.92	1
  FRRS1L	99.91	1
  FTCD	99.99	1
  FTO	99.66	1
  FTSJ1	99.95	1
  FUCA1	98.72	1
  FUT8	99.98	1
  FXYD2	100.00	1
  FZR1	99.99	1
  GABBR2	99.96	1
  GABRA1	100.00	1
  GABRA2	99.90	1
  GABRA3	99.96	1
  GABRA5	99.96	1
  GABRB1	99.97	1
  GABRB2	99.92	1
  GABRB3	99.66	1
  GABRD	99.99	1
  GABRG2	91.88	1
  GAD1	99.92	1
  GAL	99.90	1
  GALC	99.92	1
  GALE	99.90	1
  GALNT2	99.44	1
  GALT	100.00	1
  GAMT	100.00	1
  GATAD2B	99.44	1
  GATM	99.92	1
  GBA1	96.92	1
  GCDH	100.00	1
  GCH1	99.94	1
  GCK	99.99	1
  GCSH	98.75	1
  GDI1	99.99	1
  GEMIN4	100.00	1
  GEMIN5	99.96	1
  GFAP	99.99	1
  GFER	100.00	1
  GFM1	99.95	1
  GFM2	99.87	1
  GJA1	100.00	1
  GJB1	100.00	1
  GJC2	100.00	1
  GK	99.27	1
  GLDC	99.99	1
  GLI2	99.93	1
  GLI3	100.00	1
  GLIS3	99.99	1
  GLRA1	100.00	1
  GLRB	99.79	1
  GLS	99.78	1
  GLUD1	99.80	1
  GLUL	99.88	1
  GLYCTK	100.00	1
  GM2A	100.00	1
  GMNN	99.73	1
  GMPPA	99.97	1
  GMPPB	100.00	1
  GNAI1	99.70	1
  GNAO1	99.86	1
  GNAQ	99.94	1
  GNAS	100.00	1
  GNB1	100.00	1
  GNB2	99.99	1
  GNB5	99.98	1
  GNPAT	99.78	1
  GNPTAB	99.76	1
  GNPTG	100.00	1
  GNS	99.59	1
  GOSR2	98.92	1
  GOT2	99.78	1
  GPAA1	100.00	1
  GPC3	99.60	1
  GPC4	99.89	1
  GPHN	99.94	1
  GPT2	99.97	1
  GRIA2	99.99	1
  GRIA3	99.93	1
  GRIA4	99.93	1
  GRID2	99.97	1
  GRIK2	99.90	1
  GRIN1	100.00	1
  GRIN2A	100.00	1
  GRIN2B	99.99	1
  GRIN2D	99.97	1
  GRIP1	99.83	1
  GRM1	100.00	1
  GRM7	99.99	1
  GRN	100.00	1
  GSS	99.99	1
  GTF2E2	100.00	1
  GTF2H5	100.00	1
  GTPBP2	99.98	1
  GTPBP3	99.99	1
  GUSB	95.07	1
  H1-4	100.00	1
  H3-3A	35.67	1
  H3-3B	100.00	1
  H4C11	99.08	1
  H4C3	99.99	1
  H4C5	100.00	1
  H4C9	100.00	1
  HACE1	99.76	1
  HADH	99.86	1
  HADHA	99.98	1
  HAX1	100.00	1
  HCCS	99.90	1
  HCFC1	99.99	1
  HCN1	99.99	1
  HCN2	97.35	1
  HDAC4	99.98	1
  HDAC6	99.96	1
  HDAC8	99.74	1
  HECW2	99.91	1
  HEPACAM	100.00	1
  HERC1	99.92	1
  HERC2	95.66	1
  HESX1	99.77	1
  HEXA	99.99	1
  HEXB	99.91	1
  HGSNAT	99.93	1
  HIBCH	99.70	1
  HID1	99.99	1
  HIVEP2	99.99	1
  HK1	99.97	1
  HLCS	99.97	1
  HMGB1	54.18	1
  HMGCL	99.31	1
  HNMT	99.53	1
  HNRNPH1	99.98	1
  HNRNPH2	99.96	1
  HNRNPK	99.93	1
  HNRNPR	98.05	1
  HNRNPU	99.95	1
  HOXA1	100.00	1
  HPD	99.99	1
  HPDL	99.99	1
  HPRT1	97.80	1
  HRAS	100.00	1
  HS2ST1	95.79	1
  HSD17B10	99.98	1
  HSD17B4	99.71	1
  HSPA9	99.96	1
  HSPD1	83.42	1
  HTRA2	99.99	1
  HUWE1	99.88	1
  IARS1	99.89	1
  IARS2	99.77	1
  IBA57	100.00	1
  IDH2	100.00	1
  IDS	99.82	1
  IDUA	99.99	1
  IER3IP1	99.92	1
  IFIH1	99.84	1
  IFT172	99.98	1
  IFT27	100.00	1
  IGF1	100.00	1
  IGF1R	100.00	1
  IKBKG	57.34	1
  IL1RAPL1	99.77	1
  IMPA1	99.95	1
  IMPDH2	100.00	1
  INPP5E	99.85	1
  INPP5K	99.94	1
  INTS1	100.00	1
  INTS8	99.89	1
  IQSEC1	99.99	1
  IQSEC2	99.97	1
  IREB2	99.90	1
  IRF2BPL	99.21	1
  IRX5	100.00	1
  ISCA2	100.00	1
  ITGA7	99.87	1
  ITPA	99.99	1
  ITPR1	99.98	1
  IVD	100.00	1
  JAG1	100.00	1
  JAM2	91.82	1
  JAM3	100.00	1
  JARID2	99.97	1
  KANK1	99.99	1
  KANSL1	99.85	1
  KARS1	99.98	1
  KAT5	100.00	1
  KAT6A	99.93	1
  KAT6B	99.79	1
  KAT8	99.98	1
  KATNAL2	99.98	1
  KATNB1	99.99	1
  KATNIP	99.13	1
  KCNA1	100.00	1
  KCNA2	99.99	1
  KCNA4	100.00	1
  KCNB1	100.00	1
  KCNC1	100.00	1
  KCNC2	99.88	1
  KCNC3	99.98	1
  KCND2	99.90	1
  KCND3	99.98	1
  KCNH1	99.92	1
  KCNJ10	99.98	1
  KCNJ11	100.00	1
  KCNJ6	100.00	1
  KCNK4	99.99	1
  KCNK9	100.00	1
  KCNMA1	99.89	1
  KCNN2	91.25	1
  KCNN3	99.97	1
  KCNQ2	100.00	1
  KCNQ3	99.98	1
  KCNQ5	99.89	1
  KCNT1	99.98	1
  KCNT2	98.77	1
  KCTD3	99.75	1
  KCTD7	99.98	1
  KDM1A	89.42	1
  KDM3B	99.98	1
  KDM4B	99.99	1
  KDM5B	97.15	1
  KDM5C	99.98	1
  KDM6A	99.74	1
  KDM6B	99.99	1
  KIAA0586	95.75	1
  BLTP1	99.79	1
  KIDINS220	99.94	1
  KIF11	99.84	1
  KIF14	97.80	1
  KIF1A	99.96	1
  KIF21B	99.83	1
  KIF2A	99.79	1
  KIF4A	99.76	1
  KIF5A	99.91	1
  KIF5C	99.93	1
  KIF7	100.00	1
  KIFBP	99.91	1
  KLF7	99.99	1
  KLHL15	100.00	1
  KLHL7	99.95	1
  KMT2A	99.97	1
  KMT2B	99.99	1
  KMT2C	98.98	1
  KMT2D	99.98	1
  KMT2E	99.92	1
  KMT5B	99.91	1
  KNL1	98.43	1
  KPTN	99.98	1
  KRAS	99.13	1
  KRIT1	99.33	1
  L1CAM	99.98	1
  L2HGDH	99.92	1
  LAMA1	99.98	1
  LAMA2	99.95	1
  LAMB1	99.87	1
  LAMC3	99.97	1
  LAMP2	98.95	1
  LARGE1	100.00	1
  LARP7	99.63	1
  LARS1	99.87	1
  LAS1L	99.97	1
  LGI1	99.99	1
  LGI4	99.98	1
  LIAS	99.98	1
  LIG4	100.00	1
  LINGO1	100.00	1
  LINS1	99.96	1
  LIPT1	99.89	1
  LMAN2L	99.91	1
  LMBRD2	99.66	1
  LMNB1	99.73	1
  LMNB2	99.99	1
  LONP1	99.99	1
  LRP2	99.86	1
  LRPPRC	99.80	1
  LSS	99.98	1
  LYRM7	99.98	1
  LYST	99.87	1
  LZTFL1	100.00	1
  LZTR1	99.46	1
  MAB21L1	100.00	1
  MAB21L2	100.00	1
  MACF1	99.33	1
  MAF	99.73	1
  MAGEL2	99.99	1
  MAGT1	99.54	1
  MAN1B1	99.94	1
  MAN2B1	99.99	1
  MANBA	99.81	1
  MAOA	99.83	1
  MAP1B	100.00	1
  MAP2K1	99.98	1
  MAP2K2	99.99	1
  MAPK1	99.84	1
  MAPK8IP3	100.00	1
  MAPKAPK5	99.95	1
  MAPRE2	99.96	1
  MASP1	99.99	1
  MAST1	100.00	1
  MAT1A	99.70	1
  MBD5	99.79	1
  MBOAT7	100.00	1
  MBTPS2	99.81	1
  MCCC1	99.86	1
  MCCC2	99.97	1
  MCM3AP	99.98	1
  MCOLN1	100.00	1
  MCPH1	100.00	1
  MDH2	99.54	1
  MECP2	99.95	1
  MECR	99.63	1
  MED12	99.94	1
  MED12L	99.95	1
  MED13	99.55	1
  MED13L	99.99	1
  MED17	99.82	1
  MED23	99.82	1
  MED25	99.95	1
  MED27	99.99	1
  MEF2C	99.57	1
  MEGF8	99.90	1
  MEIS2	99.97	1
  METTL23	100.00	1
  METTL5	99.75	1
  MFF	99.97	1
  MFSD2A	99.78	1
  MFSD8	99.70	1
  MGAT2	100.00	1
  MGP	99.95	1
  MICAL1	99.99	1
  MICU1	99.56	1
  MID1	99.90	1
  MINPP1	99.73	1
  MKKS	100.00	1
  MKS1	99.92	1
  MLC1	99.99	1
  MLYCD	99.95	1
  MMAA	99.95	1
  MMAB	99.99	1
  MMACHC	99.98	1
  MMADHC	99.76	1
  MMUT	99.68	1
  MN1	99.98	1
  MOCS1	99.95	1
  MOCS2	99.96	1
  MOGS	100.00	1
  MORC2	100.00	1
  MPDU1	99.97	1
  MPDZ	99.86	1
  MPLKIP	99.99	1
  MRAS	99.97	1
  MRPL3	99.94	1
  MRPS22	99.87	1
  MRPS34	100.00	1
  MSL3	99.83	1
  MSMO1	99.88	1
  MTFMT	99.98	1
  MTHFR	99.97	1
  MTHFS	100.00	1
  MTO1	90.25	1
  MTOR	99.98	1
  MTR	99.95	1
  MTRFR	99.87	1
  MTRR	99.98	1
  MVK	99.97	1
  MYCN	100.00	1
  MYO5A	99.94	1
  MYT1L	99.99	1
  NAA10	99.99	1
  NAA15	99.71	1
  NAA20	99.93	1
  NACC1	99.99	1
  NAGA	100.00	1
  NAGLU	100.00	1
  NAGS	99.99	1
  NALCN	99.97	1
  NANS	100.00	1
  NAPB	100.00	1
  NARS1	99.94	1
  NARS2	99.59	1
  NAXD	99.99	1
  NAXE	99.99	1
  NBEA	99.98	1
  NBN	99.93	1
  NCAPG2	99.97	1
  NCDN	99.99	1
  NCKAP1	99.62	1
  NCOR1	99.88	1
  NDE1	100.00	1
  NDP	99.98	1
  NDST1	100.00	1
  NDUFA1	99.93	1
  NDUFA10	99.98	1
  NDUFA11	98.22	1
  NDUFA12	99.21	1
  NDUFA2	99.95	1
  NDUFA6	99.96	1
  NDUFA8	100.00	1
  NDUFAF1	100.00	1
  NDUFAF2	99.88	1
  NDUFAF3	100.00	1
  NDUFAF4	99.95	1
  NDUFAF5	99.89	1
  NDUFAF8	99.98	1
  NDUFB3	99.60	1
  NDUFB9	100.00	1
  NDUFS1	99.79	1
  NDUFS2	99.66	1
  NDUFS3	100.00	1
  NDUFS4	99.99	1
  NDUFS6	100.00	1
  NDUFS7	99.99	1
  NDUFS8	100.00	1
  NDUFV1	99.99	1
  NDUFV2	99.98	1
  NECAP1	100.00	1
  NECTIN1	99.99	1
  NEDD4L	99.97	1
  NEMF	99.94	1
  NEU1	99.98	1
  NEUROD2	100.00	1
  NEXMIF	99.99	1
  NF1	99.88	1
  NFASC	99.94	1
  NFE2L2	99.97	1
  NFIA	97.55	1
  NFIB	99.90	1
  NFIX	99.99	1
  NFU1	99.48	1
  NGLY1	99.93	1
  NHLRC1	100.00	1
  NHS	99.96	1
  NIPBL	99.34	1
  NKAP	99.10	1
  NKX2-1	100.00	1
  NLGN3	99.98	1
  NLGN4X	99.98	1
  NLRP3	100.00	1
  NONO	99.94	1
  NOVA2	99.95	1
  NPC1	99.99	1
  NPC2	100.00	1
  NPHP1	99.05	1
  NPRL2	100.00	1
  NPRL3	99.99	1
  NR2F1	99.99	1
  NR4A2	99.97	1
  NRAS	99.66	1
  NRROS	100.00	1
  NRXN1	99.98	1
  NSD1	99.98	1
  NSD2	99.87	1
  NSDHL	99.87	1
  NSUN2	99.96	1
  NT5C2	99.96	1
  NTNG2	99.98	1
  NTRK1	99.86	1
  NTRK2	99.90	1
  NUBPL	99.62	1
  NUDT2	100.00	1
  NUP107	97.46	1
  NUP188	99.88	1
  NUP214	99.98	1
  NUP62	100.00	1
  NUS1	99.90	1
  OAT	90.17	1
  OCLN	82.91	1
  OCRL	99.89	1
  ODC1	99.99	1
  OFD1	99.68	1
  OGT	99.79	1
  OPHN1	99.92	1
  SLC25A15	100.00	1
  OSGEP	100.00	1
  OTC	99.42	1
  OTUD5	99.93	1
  OTUD6B	99.92	1
  OTX2	100.00	1
  OXR1	99.96	1
  P4HTM	100.00	1
  PABPC1	99.84	1
  PACS1	99.96	1
  PACS2	99.99	1
  PAFAH1B1	99.96	1
  PAH	99.96	1
  PAK1	99.99	1
  PAK3	92.53	1
  PANK2	99.99	1
  PARN	99.75	1
  PARP6	99.97	1
  PARS2	99.99	1
  PAX1	100.00	1
  PAX6	99.95	1
  PAX8	99.99	1
  PBX1	99.88	1
  PODXL	99.99	1
  PCCA	99.90	1
  PCCB	99.97	1
  PCDH12	100.00	1
  PCDH19	99.98	1
  PCDHGC4	100.00	1
  PCGF2	99.78	1
  PCLO	99.41	1
  PCNT	99.97	1
  PCYT2	100.00	1
  PDCD10	99.94	1
  PDE2A	99.95	1
  PDE4D	99.89	1
  PDE6D	99.94	1
  PDGFRB	99.99	1
  PDHA1	99.04	1
  PDHB	99.94	1
  PDHX	100.00	1
  PDP1	100.00	1
  PDSS1	95.70	1
  PDSS2	99.87	1
  PEPD	99.98	1
  PET100	99.98	1
  PEX1	98.80	1
  PEX10	100.00	1
  PEX11B	99.62	1
  PEX12	100.00	1
  PEX13	99.36	1
  PEX14	100.00	1
  PEX16	99.94	1
  PEX19	99.25	1
  PEX2	100.00	1
  PEX26	100.00	1
  PEX3	99.85	1
  PEX5	99.89	1
  PEX6	99.99	1
  PEX7	99.72	1
  PGAP1	99.56	1
  PGAP2	99.99	1
  PGAP3	99.97	1
  PGK1	99.93	1
  PGM2L1	99.82	1
  PGM3	99.94	1
  PHACTR1	100.00	1
  PHF21A	99.91	1
  PHF6	99.16	1
  PHF8	99.87	1
  PHGDH	99.79	1
  PHIP	99.63	1
  PI4KA	99.76	1
  PIBF1	99.90	1
  PIDD1	100.00	1
  PIGA	99.81	1
  PIGB	99.92	1
  PIGC	100.00	1
  PIGF	98.59	1
  PIGG	99.99	1
  PIGH	100.00	1
  PIGK	92.56	1
  PIGL	99.98	1
  PIGN	99.91	1
  PIGO	99.99	1
  PIGP	99.87	1
  PIGQ	99.99	1
  PIGS	100.00	1
  PIGT	99.95	1
  PIGU	99.98	1
  PIGV	100.00	1
  PIGW	99.87	1
  PIGY	99.99	1
  PIK3C2B	99.79	1
  PIK3CA	99.74	1
  PIK3R2	99.95	1
  PISD	100.00	1
  PITRM1	99.89	1
  PLA2G6	99.98	1
  PLAA	99.79	1
  PLCB1	99.98	1
  PLCH1	99.99	1
  PLK4	99.89	1
  PLP1	99.98	1
  PLPBP	99.99	1
  PLXNA1	100.00	1
  PLXND1	99.98	1
  PMM2	99.93	1
  PMPCA	99.99	1
  PMPCB	99.94	1
  PNKP	100.00	1
  PNP	100.00	1
  PNPLA6	99.99	1
  PNPO	99.90	1
  PNPT1	99.56	1
  POC1A	99.98	1
  POC1B	100.00	1
  POGZ	99.49	1
  POLA1	99.57	1
  POLG	100.00	1
  POLR1C	100.00	1
  POLR2A	99.95	1
  POLR3A	99.97	1
  POLR3B	99.94	1
  POMGNT1	99.69	1
  POMGNT2	100.00	1
  POMK	100.00	1
  POMT1	99.96	1
  POMT2	99.98	1
  PORCN	99.93	1
  POU1F1	99.98	1
  POU3F3	99.96	1
  PPFIBP1	99.11	1
  PPIL1	100.00	1
  PPM1D	99.81	1
  PPP1CB	99.89	1
  PPP1R12A	99.08	1
  PPP1R15B	99.92	1
  PPP1R21	99.92	1
  PPP2CA	99.99	1
  PPP2R1A	100.00	1
  PPP2R5D	99.99	1
  PPP3CA	99.84	1
  PPT1	97.48	1
  PQBP1	99.99	1
  PRDM13	99.99	1
  PRDM15	99.99	1
  PRF1	100.00	1
  PRICKLE1	99.87	1
  PRICKLE2	99.98	1
  PRIMA1	99.98	1
  PRKACB	87.33	1
  PRKAR1A	100.00	1
  PRKAR1B	100.00	1
  PRMT7	99.95	1
  PRODH	4.29	1
  PRPS1	99.95	1
  PRR12	100.00	1
  PRRT2	99.97	1
  PRSS12	99.98	1
  PRUNE1	99.85	1
  PSAP	99.94	1
  PSAT1	99.98	1
  PSMD12	99.95	1
  PSPH	99.09	1
  PTCH1	99.99	1
  PTCHD1	99.97	1
  PTDSS1	99.95	1
  PTEN	99.89	1
  PTPN11	99.98	1
  PTPN23	100.00	1
  PTPN4	98.20	1
  PTRH2	99.99	1
  PTRHD1	100.00	1
  PTS	99.93	1
  PUF60	100.00	1
  PUM1	98.14	1
  PURA	100.00	1
  PUS1	100.00	1
  PUS3	100.00	1
  PUS7	99.89	1
  PYCR1	99.99	1
  PYCR2	99.95	1
  QARS1	100.00	1
  QDPR	99.92	1
  QRICH1	100.00	1
  RAB11B	100.00	1
  RAB18	99.76	1
  RAB23	99.97	1
  RAB27A	99.94	1
  RAB39B	99.99	1
  RAB3GAP1	99.73	1
  RAB3GAP2	99.69	1
  RABGAP1	99.99	1
  RAC1	99.75	1
  NCOA3	100.00	1
  RAD21	99.91	1
  RAF1	99.97	1
  RAI1	98.56	1
  RALA	99.69	1
  RALGAPA1	99.73	1
  RARB	99.99	1
  RARS2	99.88	1
  RBBP8	99.91	1
  RBFOX1	99.95	1
  RBM10	99.98	1
  RBM28	99.99	1
  RBPJ	99.96	1
  RCBTB1	99.99	1
  RELN	99.98	1
  RERE	99.94	1
  RFT1	99.79	1
  RFX3	99.95	1
  RFX4	99.95	1
  RFX7	99.99	1
  RHEB	99.97	1
  RHOBTB2	100.00	1
  RIMS2	99.97	1
  RIT1	99.78	1
  RLIM	99.93	1
  RMND1	99.92	1
  RNASEH2A	99.95	1
  RNASEH2B	99.94	1
  RNASEH2C	99.99	1
  RNASET2	99.99	1
  RNF113A	99.99	1
  RNF125	99.98	1
  RNF13	99.81	1
  RNF220	99.68	1
  RNPC3	88.90	1
  RNU4ATAC	99.95	1
  RNU7-1	33.90	1
  ROGDI	99.98	1
  RORA	99.97	1
  RORB	99.86	1
  RPGRIP1L	96.35	1
  RPIA	99.84	1
  RPL15	84.91	1
  RPS19	100.00	1
  RPS6KA3	98.93	1
  RRAS2	99.94	1
  RRM2B	99.97	1
  RSPRY1	99.73	1
  RSRC1	99.95	1
  RTEL1	100.00	1
  RTN4IP1	99.98	1
  RTTN	99.93	1
  RUBCN	100.00	1
  RUSC2	99.99	1
  RXYLT1	99.48	1
  SALL1	100.00	1
  SAMD9	99.93	1
  SAMHD1	99.98	1
  SARS1	98.53	1
  SATB1	100.00	1
  SATB2	99.96	1
  SBDS	99.93	1
  SBF1	99.99	1
  SC5D	99.97	1
  SCAF4	99.91	1
  SCAMP5	99.99	1
  SCAPER	99.75	1
  SCARB2	99.99	1
  SCN1A	99.94	1
  SCN1B	99.98	1
  SCN2A	99.86	1
  SCN3A	99.76	1
  SCN8A	99.77	1
  SCO1	99.98	1
  SCO2	100.00	1
  SCYL1	100.00	1
  SDCCAG8	100.00	1
  SDHA	99.98	1
  SDHAF1	99.99	1
  SEMA3E	99.13	1
  SEMA6B	99.98	1
  SEPSECS	99.78	1
  SERAC1	99.90	1
  SERPINI1	99.98	1
  SET	78.28	1
  SETBP1	100.00	1
  SETD1A	99.99	1
  SETD1B	99.99	1
  SETD2	99.91	1
  SETD5	99.99	1
  SFXN4	99.97	1
  SGPL1	99.95	1
  SGSH	100.00	1
  SHANK1	99.99	1
  SHANK2	99.97	1
  SHANK3	98.45	1
  SHH	100.00	1
  SHMT2	99.92	1
  SHOC2	99.96	1
  SHROOM4	99.78	1
  SIAH1	100.00	1
  SIK1	3.83	1
  SIL1	99.95	1
  SIN3A	99.97	1
  SIN3B	99.98	1
  SIX3	100.00	1
  HHAT	99.98	1
  SLC12A2	99.55	1
  SLC12A5	99.99	1
  SLC12A6	99.98	1
  SLC13A5	99.99	1
  SLC16A1	99.26	1
  SLC16A2	99.97	1
  SLC17A5	99.71	1
  SLC19A3	99.95	1
  SLC1A1	99.98	1
  SLC1A2	99.95	1
  SLC1A4	99.97	1
  SLC25A1	99.93	1
  SLC25A12	99.72	1
  SLC25A19	99.99	1
  SLC25A20	100.00	1
  SLC25A22	100.00	1
  SLC25A42	99.99	1
  SLC2A1	99.93	1
  SLC33A1	99.67	1
  SLC35A1	99.81	1
  SLC35A2	99.97	1
  SLC35A3	94.67	1
  SLC35C1	100.00	1
  SLC39A14	92.87	1
  SLC39A8	99.95	1
  SLC46A1	100.00	1
  SLC4A4	99.97	1
  SLC5A6	100.00	1
  SLC6A1	99.96	1
  SLC6A17	99.79	1
  SLC6A19	99.99	1
  SLC6A3	99.96	1
  SLC6A8	99.99	1
  SLC6A9	99.93	1
  SLC7A7	99.99	1
  SLC9A6	99.42	1
  SLC9A7	99.91	1
  SMAD4	99.97	1
  SMAD6	100.00	1
  SMARCA2	99.95	1
  SMARCA4	99.99	1
  SMARCA5	99.81	1
  SMARCB1	99.99	1
  SMARCC2	99.73	1
  SMARCD1	99.81	1
  SMARCE1	99.87	1
  SMC1A	99.98	1
  SMC3	99.91	1
  SMG8	99.92	1
  SMG9	99.99	1
  SMOC1	100.00	1
  SMPD1	100.00	1
  SMPD4	99.90	1
  SNAP25	99.89	1
  SNAP29	99.85	1
  SNIP1	99.96	1
  SNORD118	100.00	1
  SNRPN	99.97	1
  SNX14	99.73	1
  SNX27	99.59	1
  SOBP	99.99	1
  SON	99.95	1
  SOS1	99.68	1
  SOS2	99.39	1
  SOX10	100.00	1
  SOX11	100.00	1
  SOX2	100.00	1
  SOX3	100.00	1
  SOX4	99.36	1
  SOX5	99.96	1
  SOX6	99.89	1
  SPART	99.98	1
  SPAST	99.77	1
  AFG2A	99.82	1
  SPATA5L1	99.91	1
  SPECC1L	99.98	1
  SPEN	99.98	1
  SPG11	99.89	1
  SPOP	99.85	1
  SPR	99.99	1
  SPRED1	99.99	1
  SPTAN1	99.96	1
  SPTBN1	99.98	1
  SPTBN2	99.98	1
  SPTBN4	99.91	1
  SRCAP	99.99	1
  SRD5A3	99.94	1
  SRPX2	99.95	1
  SRRM2	99.98	1
  SSR4	99.99	1
  ST3GAL3	99.98	1
  ST3GAL5	99.96	1
  STAG1	99.88	1
  STAG2	99.08	1
  STAMBP	99.95	1
  STEEP1	99.89	1
  STIL	99.11	1
  STRA6	99.95	1
  STRADA	99.98	1
  STT3A	99.99	1
  STT3B	99.96	1
  STX1B	99.97	1
  STXBP1	99.99	1
  SUCLA2	99.96	1
  SUCLG1	99.64	1
  SUFU	100.00	1
  SUMF1	99.95	1
  SUOX	100.00	1
  SUPT16H	99.97	1
  SURF1	100.00	1
  SUZ12	98.58	1
  SVBP	99.04	1
  SYN1	99.98	1
  SYNCRIP	99.93	1
  SYNE1	99.95	1
  SYNGAP1	99.96	1
  SYNJ1	99.91	1
  SYP	99.99	1
  SYT1	99.70	1
  SYT14	99.94	1
  SZT2	99.88	1
  TAF1	99.84	1
  TAF13	95.71	1
  TAF1C	100.00	1
  TAF2	99.72	1
  TAF6	99.96	1
  TAFAZZIN	99.98	1
  TANC2	99.85	1
  TANGO2	99.85	1
  TAOK1	99.77	1
  TASP1	99.86	1
  TAT	99.99	1
  TBC1D20	100.00	1
  TBC1D23	98.70	1
  TBC1D24	100.00	1
  TBC1D2B	99.94	1
  TBC1D7	99.90	1
  TBCD	100.00	1
  TBCE	99.91	1
  TBCK	99.75	1
  TBL1XR1	99.92	1
  TBP	99.98	1
  TBR1	99.99	1
  TBX1	99.95	1
  TCF20	100.00	1
  TCF4	98.56	1
  TCF7L2	99.69	1
  TCN2	100.00	1
  TCTN1	99.92	1
  TCTN2	99.99	1
  TCTN3	99.92	1
  TDP2	99.97	1
  TECPR2	99.96	1
  TECR	99.99	1
  TELO2	99.99	1
  TENM3	99.99	1
  TET3	99.95	1
  TFAP2A	100.00	1
  TFE3	99.87	1
  TGDS	99.86	1
  TGFBR1	99.94	1
  TGFBR2	99.98	1
  TGIF1	100.00	1
  TH	99.99	1
  THOC2	99.11	1
  THOC6	99.94	1
  THRA	100.00	1
  THRB	99.82	1
  TIAM1	99.99	1
  TIMM50	99.99	1
  TIMM8A	100.00	1
  TINF2	100.00	1
  DDR2	97.39	1
  TLK2	98.83	1
  TMCO1	99.48	1
  TMEM106B	99.92	1
  TMEM107	100.00	1
  TMEM138	100.00	1
  TMEM165	99.97	1
  TMEM216	99.98	1
  TMEM222	99.93	1
  TMEM231	88.88	1
  TMEM237	99.30	1
  TMEM240	99.99	1
  TMEM63A	99.91	1
  TMEM67	99.69	1
  TMEM70	99.99	1
  TMEM94	99.96	1
  TMLHE	77.23	1
  TMTC3	97.80	1
  TMX2	99.99	1
  TNIK	99.93	1
  TNK2	99.98	1
  TNPO2	99.99	1
  TNR	99.80	1
  TNRC6B	99.99	1
  TOE1	99.96	1
  TOGARAM1	99.93	1
  TOR1A	100.00	1
  TP53RK	81.09	1
  TP73	100.00	1
  TPI1	99.95	1
  TPK1	99.96	1
  THPO	100.00	1
  ACD	99.99	1
  TRAF7	99.97	1
  TRAIP	99.97	1
  TRAK1	99.98	1
  TRAPPC10	84.42	1
  TRAPPC11	99.93	1
  TRAPPC12	99.96	1
  TRAPPC2L	100.00	1
  TRAPPC4	100.00	1
  TRAPPC6B	99.74	1
  TRAPPC9	99.98	1
  TREX1	100.00	1
  TRIM32	100.00	1
  TRIM8	99.82	1
  TRIO	99.98	1
  TRIP12	99.62	1
  TRIP4	99.97	1
  TRIT1	99.25	1
  TRMT1	100.00	1
  TRMT10A	99.90	1
  TRMT10C	99.55	1
  TRNT1	99.97	1
  TRPM3	99.89	1
  TRPM6	99.93	1
  TRRAP	99.79	1
  TSC1	99.99	1
  TSC2	99.98	1
  TSEN15	99.57	1
  TSEN2	99.98	1
  TSEN34	100.00	1
  TSEN54	100.00	1
  TSFM	100.00	1
  TSHB	99.95	1
  TSPAN7	99.97	1
  TTC19	99.99	1
  TTC21B	99.50	1
  SKIC3	99.82	1
  TTC5	100.00	1
  TTC8	99.67	1
  TTI1	100.00	1
  TTI2	99.94	1
  TUBA1A	99.97	1
  TUBB	100.00	1
  TUBB2A	87.26	1
  TUBB2B	87.69	1
  TUBB3	100.00	1
  TUBB4A	100.00	1
  TUBG1	99.95	1
  TUBGCP2	96.54	1
  TUBGCP4	99.80	1
  TUBGCP6	100.00	1
  TUFM	100.00	1
  TUSC3	99.96	1
  TWIST1	100.00	1
  TWNK	100.00	1
  U2AF2	99.98	1
  UBA5	99.95	1
  UBE2A	99.77	1
  UBE3A	99.23	1
  UBE3B	99.99	1
  UBE4A	99.99	1
  UBR1	99.93	1
  UBR7	99.96	1
  UBTF	99.99	1
  UFC1	99.35	1
  UFM1	99.25	1
  UFSP2	99.74	1
  UGDH	99.77	1
  UGP2	99.85	1
  UMPS	99.90	1
  UNC80	98.04	1
  UPB1	100.00	1
  UPF3B	99.26	1
  UQCRQ	99.96	1
  UROC1	99.99	1
  USP18	93.05	1
  USP27X	99.99	1
  USP7	99.90	1
  USP9X	99.84	1
  VAMP1	100.00	1
  VAMP2	100.00	1
  VARS1	99.99	1
  VLDLR	99.99	1
  VPS11	99.99	1
  VPS13B	99.90	1
  VPS16	100.00	1
  VPS37A	99.96	1
  VPS41	99.92	1
  VPS4A	99.98	1
  VPS53	100.00	1
  VRK1	99.98	1
  WAC	99.76	1
  WARS2	97.72	1
  WASF1	99.86	1
  WASHC4	99.84	1
  WASHC5	99.98	1
  WDFY3	99.93	1
  WDR19	99.80	1
  WDR26	96.29	1
  WDR37	99.94	1
  WDR4	99.95	1
  WDR45	99.99	1
  WDR45B	100.00	1
  WDR5	100.00	1
  WDR62	99.96	1
  WDR73	99.92	1
  WDR81	100.00	1
  WFS1	99.99	1
  WNT1	99.97	1
  WWOX	100.00	1
  XK	99.98	1
  XPA	99.68	1
  XPNPEP3	99.99	1
  XRCC4	99.89	1
  XYLT1	99.98	1
  XYLT2	99.97	1
  YAP1	99.87	1
  YIF1B	99.80	1
  YIPF5	99.99	1
  YME1L1	99.87	1
  YWHAG	99.99	1
  YY1	100.00	1
  ZBTB11	99.97	1
  ZBTB16	100.00	1
  ZBTB18	99.41	1
  ZBTB20	100.00	1
  ZBTB24	99.99	1
  ZC3H14	99.96	1
  ZC4H2	99.98	1
  ZDHHC9	99.61	1
  ZEB2	99.97	1
  ZFHX3	99.96	1
  ZFHX4	99.99	1
  ZFYVE26	100.00	1
  ZIC1	99.99	1
  ZIC2	100.00	1
  ZMIZ1	99.92	1
  ZMYM2	99.88	1
  ZMYND11	99.99	1
  ZNF142	100.00	1
  ZNF148	99.85	1
  ZNF292	99.91	1
  ZNF335	100.00	1
  ZNF407	99.98	1
  ZNF423	98.94	1
  ZNF462	99.99	1
  ZNF526	100.00	1
  ZNF699	100.00	1
  ZNF711	99.43	1
  ZSWIM6	98.94	1

• Intellectual disability/Epilepsy (1091 genes) - ULG
  Details

  Gene	% of coding sequence sufficiently covered to detect heterozygous mutations	Copy number variation	Comments
  A2ML1	99.35	0	Vissers et al., EJHG 2015 : Noonan syndrome
  ABCC9	99.41	0	Hypertrichotic osteochondrodysplasia
  ABCD1	99.49	0	Adrenoleukodystrophy
  ABHD5	98.48	0	Chanarin-Dorfman syndrome
  ACAD9	99.57	0	Mitochondrial complex I deficiency due to ACAD9 deficiency
  ACO2	99.66	0	Infantile cerebellar-retinal degeneration
  ACOX1	99.49	0	Peroxisomal acyl-CoA oxidase deficiency
  ACSL4	91.09	0	Mental retardation, X-linked 63
  ACTB	99.34	0	Baraitser-Winter syndrome 1
  ACTG1	99.69	0	Baraitser-Winter syndrome 2
  ACY1	99.67	0	Aminoacylase 1 deficiency
  ADAR	99.45	0	Aicardi-Goutieres syndrome 6
  ADAT3	81.40	0	Mental retardation, autosomal recessive 36
  ADGRG1	99.67	0	Polymicrogyria, bilateral frontoparietal
  ADK	98.74	0	Hypermethioninemia due to adenosine kinase deficiency
  ADNP	99.55	0	Helsmoortel-van der Aa syndrome
  ADSL	99.58	0	Adenylosuccinase deficiency
  AFF2	90.80	0	Mental retardation, X-linked, FRAXE type
  AGA	99.60	0	Aspartylglucosaminuria
  AGPAT2	91.26	0	Lipodystrophy, congenital generalized, type 1
  AHCY	99.67	0	Hypermethioninemia with deficiency of S-adenosylhomocysteine hydrolase
  AHDC1	99.68	0	Xia-Gibbs syndrome
  AHI1	99.05	0	Joubert syndrome 3
  AIMP1	96.88	0	Leukodystrophy, hypomyelinating, 3
  AKT3	98.82	0	Megalencephaly-polymicrogyria-polydactyly-hydrocephalus syndrome 2
  ALDH18A1	99.66	0	Cutis laxa, autosomal recessive, type IIIA
  ALDH3A2	99.31	0	Sjogren-Larsson syndrome
  ALDH4A1	96.44	0	Hyperprolinemia, type II
  ALDH5A1	93.04	0	Succinic semialdehyde dehydrogenase deficiency
  ALDH7A1	99.00	0	Epilepsy, pyridoxine-dependent
  ALG1	99.43	0	Congenital disorder of glycosylation, type Ik
  ALG11	99.57	0	Congenital disorder of glycosylation, type Ip
  ALG12	99.69	0	Congenital disorder of glycosylation, type Ig
  ALG13	92.88	0	Epileptic encephalopathy, early infantile, 36
  ALG2	97.14	0	Myasthenic syndrome, congenital, 14, with tubular aggregates
  ALG3	99.59	0	Congenital disorder of glycosylation, type Id
  ALG6	98.36	0	Congenital disorder of glycosylation, type Ic
  ALG9	96.33	0	Gillessen-Kaesbach-Nishimura syndrome
  ALMS1	98.27	0	Alstrom syndrome
  ALX1	99.52	0	Frontonasal dysplasia 3
  ALX4	99.07	0	Frontonasal dysplasia 2
  AMER1	99.96	0	Osteopathia striata with cranial sclerosis
  AMPD2	99.69	0	Pontocerebellar hypoplasia, type 9
  AMT	99.69	0	Glycine encephalopathy
  ANK3	99.47	0	Mental retardation, autosomal recessive, 37
  ANKH	99.64	0	Craniometaphyseal dysplasia
  ANKRD11	99.68	0	KBG syndrome
  AP1S1	99.50	0	MEDNIK syndrome
  AP1S2	88.78	0	Mental retardation, X-linked syndromic 5
  AP4B1	99.61	0	Spastic paraplegia 47, autosomal recessive
  AP4M1	99.68	0	Spastic paraplegia 50, autosomal recessive
  AP4S1	99.48	0	Spastic paraplegia 52, autosomal recessive
  APTX	99.02	0	Ataxia, early-onset, with oculomotor apraxia and hypoalbuminemia
  ARCN1	99.27	0	Short stature, rhizomelic, with microcephaly, micrognathia, and developmental delay
  ARFGEF2	99.31	0	Periventricular heterotopia with microcephaly
  ARG1	99.53	0	Argininemia
  ARHGAP31	99.60	0	Adams-Oliver syndrome 1
  ARHGEF2	99.64	0	Neurodevelopmental disorder with midbrain and hindbrain malformations
  ARHGEF9	97.26	0	Epileptic encephalopathy, early infantile, 8
  ARID1A	97.02	0	Coffin-Siris syndrome 2
  ARID1B	97.57	0	Coffin-Siris syndrome 1
  ARID2	99.33	0	Coffis-Siris syndrome 6
  ARL13B	98.36	0	Joubert syndrome 8
  ARL6	99.09	0	Bardet-Biedl syndrome 3
  ARSL	90.38	0	Chondrodysplasia punctata, X-linked recessive
  ARX	65.25	0	Mental retardation, X-linked 29 and others
  ASH1L	99.53	0	Okamoto et al., AJMG 2017 : MCA/ID syndrome
  ASNS	99.42	0	Asparagine synthetase deficiency
  ASPA	99.17	0	Canavan disease
  ASPM	98.50	0	Microcephaly 5, primary, autosomal recessive
  ASXL1	95.03	0	Bohring-Opitz syndrome
  ASXL3	98.20	0	Bainbridge-Ropers syndrome
  ATIC	96.73	0	AICA-ribosiduria due to ATIC deficiency
  ATP6V0A2	99.12	0	Cutis laxa, autosomal recessive, type IIA
  ATP7A	94.32	0	Menkes disease
  ATR	99.17	0	Seckel syndrome 1
  ATRIP	95.19	0	Ogi et al., PLoS Genet 2012 : Seckel syndrome
  ATRX	92.10	0	Mental retardation-hypotonic facies syndrome, X-linked
  AUH	96.75	0	3-methylglutaconic aciduria, type I
  AUTS2	97.55	0	Mental retardation, autosomal dominant 26
  B3GLCT	92.21	0	Peters-plus syndrome
  B4GALT1	98.41	0	Congenital disorder of glycosylation, type IId
  B4GALT7	83.36	0	Ehlers-Danlos syndrome with short stature and limb anomalies
  BBIP1	99.64	0	Bardet-Biedl syndrome 18
  BBS1	99.66	0	Bardet-Biedl syndrome 1
  BBS10	99.57	0	Bardet-Biedl syndrome 10
  BBS12	99.52	0	Bardet-Biedl syndrome 12
  BBS2	99.32	0	Bardet-Biedl syndrome 2
  BBS4	99.49	0	Bardet-Biedl syndrome 4
  BBS5	98.49	0	Bardet-Biedl syndrome 5
  BBS7	99.00	0	Bardet-Biedl syndrome 7
  BBS9	98.68	0	Bardet-Biedl syndrome 9
  BCKDHB	98.82	0	Maple syrup urine disease, type Ib
  BCL11A	99.16	0	Dias-Logan syndrome
  BCOR	96.85	0	Microphthalmia, syndromic 2
  BCS1L	99.69	0	Leigh syndrome
  BLM	99.07	0	Bloom syndrome
  BRAF	94.78	0	Noonan syndrome 7
  BRPF1	99.67	0	Intellectual developmental disorder with dysmorphic facies and ptosis
  BRWD3	93.74	0	Mental retardation, X-linked 93
  BSCL2	99.67	0	Encephalopathy, progressive, with or without lipodystrophy
  BTD	99.68	0	Biotinidase deficiency
  BUB1B	99.40	0	Mosaic variegated aneuploidy syndrome 1
  C12ORF57	99.69	0	Platzer et al., AJMG 2014 : RM, hypoplasie corps caleux, colobome, épilepsie.
  C19ORF12	99.69	0	Neurodegeneration with brain iron accumulation 4
  C2CD3	99.44	0	Orofaciodigital syndrome XIV
  CPLANE1	98.89	0	Joubert syndrome 17
  CA8	99.19	0	Cerebellar ataxia and mental retardation with or without quadrupedal locomotion 3
  CACNA1A	99.12	0	Epileptic encephalopathy, early infantile, 42
  CACNA1C	99.65	0	Timothy syndrome
  CACNA1D	99.50	0	Primary aldosteronism, seizures, and neurologic abnormalities
  CAMK2A	99.67	0	Mental retardation, autosomal dominant 53
  CAMK2B	96.34	0	Mental retardation, autosomal dominant 54
  CANT1	99.60	0	Desbuquois dysplasia 1
  CASK	95.36	0	Mental retardation and microcephaly with pontine and cerebellar hypoplasia
  CAV1	99.67	0	Partial lipodystrophy, congenital cataracts, and neurodegeneration syndrome
  CAVIN1	99.31	0	Lipodystrophy, congenital generalized, type 4
  CBL	99.54	0	Noonan syndrome-like disorder with or without juvenile myelomonocytic leukemia
  CBS	99.69	0	Homocystinuria, B6-responsive and nonresponsive types
  CC2D1A	99.64	0	Mental retardation, autosomal recessive 3
  CC2D2A	99.11	0	Joubert syndrome 9
  CCDC22	99.91	0	Ritscher-Schinzel syndrome 2
  CCDC39	98.07	0	Ciliary dyskinesia, primary, 14
  CCDC78	99.69	0	Myopathy, centronuclear, 4
  CCDC88C	99.38	0	Hydrocephalus, nonsyndromic, autosomal recessive
  CD96	99.13	0	C syndrome
  CDC45	99.57	0	Meier-Gorlin syndrome 7
  CDC6	99.32	0	Meier-Gorlin syndrome 5
  CDH15	96.19	0	Mental retardation, autosomal dominant 3
  CDK13	95.39	0	Congenital heart defects, dysmorphic facial features, and intellectual developmental disorder
  CDK5RAP2	99.45	0	Microcephaly 3, primary, autosomal recessive
  CDKL5	87.62	0	Epileptic encephalopathy, early infantile, 2
  CDON	98.90	0	Holoprosencephaly 11
  CDT1	89.72	0	Meier-Gorlin syndrome 4
  CENPJ	99.19	0	Microcephaly 6, primary, autosomal recessive
  CEP135	97.81	0	Microcephaly 8, primary, autosomal recessive
  CEP152	98.40	0	Microcephaly 9, primary, autosomal recessive
  CEP290	97.64	0	Joubert syndrome 5
  CEP41	99.07	0	Joubert syndrome 15
  CEP57	99.09	0	Mosaic variegated aneuploidy syndrome 2
  CEP63	99.06	0	Seckel syndrome 6
  CHAMP1	99.63	0	Mental retardation, autosomal dominant 40
  CHAT	97.70	0	Myasthenic syndrome, congenital, 6, presynaptic
  CHD2	99.18	0	Epileptic encephalopathy, childhood-onset
  CHD4	99.65	0	Sifrim-Hitz-Weiss syndrome
  CHD7	99.53	0	CHARGE syndrome
  CHD8	99.58	0	Autism, susceptibility to, 18
  CHKB	97.97	0	Muscular dystrophy, congenital, megaconial type
  CHMP1A	99.59	0	Pontocerebellar hypoplasia, type 8
  CHRNA4	90.96	0	Epilepsy, nocturnal frontal lobe, 1
  CHRND	99.68	0	Myasthenic syndrome, congenital, 3B, fast-channel
  CISD2	98.61	0	Wolfram syndrome 2
  CLCN4	99.27	0	Mental retardation, X-linked 49/15
  CLN3	99.69	0	Ceroid lipofuscinosis, neuronal, 3
  CLN5	97.69	0	Ceroid lipofuscinosis, neuronal, 5
  CLN6	85.06	0	Ceroid lipofuscinosis, neuronal, 6
  CLN8	99.69	0	Ceroid lipofuscinosis, neuronal, 8
  CLP1	99.68	0	Pontocerebellar hypoplasia, type 10
  CLPB	99.62	0	3-methylglutaconic aciduria, type VII, with cataracts, neurologic involvement and neutropenia
  CNKSR2	91.50	0	Houge et al., Mol Syndromol 2012 : ID
  CNTNAP2	99.39	0	Pitt-Hopkins like syndrome 1
  COASY	99.68	0	Neurodegeneration with brain iron accumulation 6
  COG1	98.34	0	Congenital disorder of glycosylation, type IIg
  COG5	99.11	0	Congenital disorder of glycosylation, type IIi
  COG6	98.39	0	Congenital disorder of glycosylation, type IIl
  COG7	99.66	0	Congenital disorder of glycosylation, type IIe
  COG8	97.38	0	Congenital disorder of glycosylation, type IIh
  COL4A1	97.86	0	Porencephaly 1
  COL4A2	99.62	0	Porencephaly 2
  CERT1	99.15	0	Mental retardation, autosomal dominant 34
  COLEC10	99.16	0	Mental retardation, autosomal dominant 34
  COLEC11	99.67	0	3MC syndrome 2
  COQ2	94.52	0	Coenzyme Q10 deficiency, primary, 1
  COQ4	98.74	0	Coenzyme Q10 deficiency, primary, 7
  COQ6	99.60	0	Coenzyme Q10 deficiency, primary, 6
  COQ7	99.40	0	Coenzyme Q10 deficiency, primary, 8
  COQ8A	99.69	0	Coenzyme Q10 deficiency, primary, 4
  COQ9	98.23	0	Coenzyme Q10 deficiency, primary, 5
  COX10	99.65	0	Leigh syndrome due to mitochondrial COX4 deficiency
  CRADD	99.63	0	Mental retardation, autosomal recessive 34, with variant lissencephaly
  CRBN	98.86	0	Mental retardation, autosomal recessive 2
  CREBBP	99.62	0	Rubinstein-Taybi syndrome 1
  CSNK2A1	99.32	0	Okur-Chung neurodevelopmental syndrome
  CSPP1	98.95	0	Joubert syndrome 21
  CTC1	99.57	0	Cerebroretinal microangiopathy with calcifications and cysts
  CTCF	99.65	0	Mental retardation, autosomal dominant 21
  CTNNB1	99.65	0	Mental retardation, autosomal dominant 19
  CTSA	99.59	0	Galactosialidosis
  CTSD	94.51	0	Ceroid lipofuscinosis, neuronal, 10
  CUL4B	84.65	0	Mental retardation, X-linked, syndromic 15 (Cabezas type)
  CYB5R3	88.44	0	Methemoglobinemia, type I
  CYP27A1	97.94	0	Cerebrotendinous xanthomatosis
  D2HGDH	98.50	0	D-2-hydroxyglutaric aciduria
  DAG1	99.69	0	Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A, 9
  DARS2	99.20	0	Leukoencephalopathy with brain stem and spinal cord involvement and lactate elevation
  DCAF17	93.81	0	Woodhouse-Sakati syndrome
  DCC	99.55	0	Mirror movements 1 and/or agenesis of the corpus callosum
  DCPS	99.69	0	Al-Raqad syndrome
  DCX	96.94	0	Lissencephaly, X-linked
  DDB2	99.69	0	Xeroderma pigmentosum, group E, DDB-negative subtype
  DDHD2	97.74	0	Spastic paraplegia 54, autosomal recessive
  DDX11	99.66	0	Warsaw breakage syndrome
  DDX3X	96.52	0	Mental retardation, X-linked 102
  DEAF1	92.63	0	Mental retardation, autosomal dominant 24
  DHCR24	99.34	0	Desmosterolosis
  DHCR7	99.68	0	Smith-Lemli-Opitz syndrome
  DHFR	98.50	0	Megaloblastic anemia due to dihydrofolate reductase deficiency
  DHX30	99.51	0	Lessel et al., AJHG 2017 : global developmental delay (GDD), intellectual disability (ID), severe speech impairment and gait abnormalities.
  DIAPH1	95.85	0	Seizures, cortical blindness, microcephaly syndrome
  DKC1	91.60	0	Dyskeratosis congenita, X-linked
  DLD	99.08	0	Dihydrolipoamide dehydrogenase deficiency
  DLG3	98.91	0	Mental retardation, X-linked 90
  DLL4	99.61	0	Adams-Oliver syndrome 6
  DNAJC19	97.60	0	3-methylglutaconic aciduria, type V
  DNM1	96.84	0	Epileptic encephalopathy, early infantile, 31
  DNMT3A	99.69	0	Tatton-Brown-Rahman syndrome
  DNMT3B	99.69	0	Immunodeficiency-centromeric instability-facial anomalies syndrome 1
  DOCK6	97.92	0	Adams-Oliver syndrome 2
  DOCK8	99.24	0	Hyper-IgE recurrent infection syndrome, autosomal recessive
  DPAGT1	99.68	0	Congenital disorder of glycosylation, type Ij
  DPH1	99.67	0	Developmental delay with short stature, dysmorphic features, and sparse hair
  DPM1	99.27	0	Congenital disorder of glycosylation, type Ie
  DPP6	99.57	0	Mental retardation, autosomal dominant 33
  DSCAM	99.29	0	Wang et al., Nat Commun 2016 : Autisme
  DYNC1H1	99.50	0	Mental retardation, autosomal dominant 13
  DYRK1A	99.53	0	Mental retardation, autosomal dominant 7
  EARS2	99.64	0	Combined oxidative phosphorylation deficiency 12
  EBF3	98.59	0	Hypotonia, ataxia, and delayed development syndrome
  EBP	99.89	0	MEND syndrome
  ECHS1	98.49	0	Mitochondrial short-chain enoyl-CoA hydratase 1 deficiency
  EDC3	99.68	0	Mental retardation, autosomal recessive 50
  EEF1A2	88.74	0	Mental retardation, autosomal dominant 38
  EFNB1	99.39	0	Craniofrontonasal dysplasia
  EFTUD2	99.44	0	Mandibulofacial dysostosis, Guion-Almeida type
  EHMT1	95.40	0	Kleefstra syndrome
  EIF2AK3	94.12	0	Wolcott-Rallison syndrome
  EIF2S3	97.88	0	Mental retardation, X-linked, syndromic, Borck type
  ELOVL4	99.45	0	Ichthyosis, spastic quadriplegia, and mental retardation
  ELP2	98.99	0	Mental retardation, autosomal recessive 58
  EML1	96.28	0	Band heterotopia
  EMX2	99.48	0	Schizencephaly
  ENTPD1	99.05	0	Spastic paraplegia 64, autosomal recessive
  EOGT	99.33	0	Adams-Oliver syndrome 4
  EP300	99.56	0	Rubinstein-Taybi syndrome 2
  EPB41L1	99.69	0	Mental retardation, autosomal dominant 11
  EPG5	99.47	0	Vici syndrome
  ERCC2	99.67	0	Cerebrooculofacioskeletal syndrome 2
  ERCC3	99.68	0	Xeroderma pigmentosum, group B
  ERCC4	99.35	0	Xeroderma pigmentosum, type F/Cockayne syndrome
  ERCC5	99.48	0	Xeroderma pigmentosum, group G/Cockayne syndrome
  ERCC6	99.07	0	Cerebrooculofacioskeletal syndrome 1
  ERCC8	99.27	0	Cockayne syndrome, type A
  ERLIN2	99.32	0	Spastic paraplegia 18, autosomal recessive
  ESCO2	98.50	0	Roberts syndrome
  ETHE1	99.60	0	Ethylmalonic encephalopathy
  EXOSC3	99.53	0	Pontocerebellar hypoplasia, type 1B
  EZH2	99.41	0	Weaver syndrome
  EZR	99.63	0	Riecken et al., Hum Mut 2015 : ID
  HYCC1	98.81	0	Leukodystrophy, hypomyelinating, 5
  FARS2	99.56	0	Combined oxidative phosphorylation deficiency 14
  FAT4	99.39	0	Van Maldergem syndrome 2
  FBXL4	99.46	0	Mitochondrial DNA depletion syndrome 13 (encephalomyopathic type)
  FBXO31	93.34	0	Mental retardation, autosomal recessive 45
  FGD1	98.23	0	Mental retardation, X-linked syndromic 16
  FGFR1	99.69	0	Hypogonadotropic hypogonadism 2 with or without anosmia
  FGFR2	99.67	0	Saethre-Chotzen syndrome
  FGFR3	95.86	0	Crouzon syndrome with acanthosis nigricans
  FH	99.29	0	Fumarase deficiency
  FKRP	85.03	0	Muscular dystrophy-dystroglycanopathy (congenital with or without mental retardation), type B, 5
  FKTN	99.13	0	Muscular dystrophy-dystroglycanopathy (congenital without mental retardation), type B, 4
  FLNA	99.73	0	Heterotopia, periventricular
  FMN2	99.05	0	Mental retardation, autosomal recessive 47
  FMR1	94.48	0	Fragile X tremor/ataxia syndrome
  FOLR1	99.69	0	Neurodegeneration due to cerebral folate transport deficiency
  FOXG1	84.20	0	Rett syndrome, congenital variant
  FOXP1	99.55	0	Mental retardation with language impairment and with or without autistic features
  FOXP2	99.34	0	Speech-language disorder-1
  FOXRED1	99.63	0	Leigh syndrome due to mitochondrial complex I deficiency
  FRAS1	99.57	0	Fraser syndrome 1
  FREM2	99.23	0	Fraser syndrome 2
  FRMPD4	96.56	0	Mental retardation, X-linked 104
  FTCD	95.82	0	Glutamate formiminotransferase deficiency
  FTL	99.55	0	Neurodegeneration with brain iron accumulation 3
  FTO	99.47	0	Growth retardation, developmental delay, facial dysmorphism
  FTSJ1	99.69	0	Mental retardation, X-linked 9/44
  FUCA1	98.18	0	Fucosidosis
  GABRA3	87.08	0	Niturad et al., Brain 2017 : range of epileptic seizure types, a varying degree of intellectual disability and developmental delay, sometimes with dysmorphic features or nystagmus.
  GABRB3	94.66	0	Epileptic encephalopathy, early infantile, 43
  GABRG2	99.57	0	Epilepsy, generalized, with febrile seizures plus, type 3
  GALT	99.68	0	Galactosemia
  GAMT	93.42	0	Cerebral creatine deficiency syndrome 2
  GAN	98.90	0	Giant axonal neuropathy-1
  GATAD2B	99.69	0	Mental retardation, autosomal dominant 18
  GATM	94.01	0	Cerebral creatine deficiency syndrome 3
  GBE1	98.82	0	Glycogen storage disease IV
  GCH1	93.92	0	Dystonia, DOPA-responsive, with or without hyperphenylalaninemia
  GCSH	86.02	0	Glycine encephalopathy
  GDI1	95.21	0	Mental retardation, X-linked 41
  GFAP	99.69	0	Alexander disease
  GJC2	73.70	0	Leukodystrophy, hypomyelinating, 2
  GLB1	99.56	0	GM1-gangliosidosis, type I
  GLDC	97.83	0	Glycine encephalopathy
  GLI2	98.60	0	Holoprosencephaly 9
  GLI3	99.55	0	Greig cephalopolysyndactyly syndrome
  GLUL	99.68	0	Glutamine deficiency, congenital
  GLYCTK	99.69	0	D-glyceric aciduria
  GM2A	99.68	0	GM2-gangliosidosis, AB variant
  GMPPA	99.69	0	Alacrima, achalasia, and mental retardation syndrome
  GMPPB	99.64	0	Muscular dystrophy-dystroglycanopathy (congenital with mental retardation), type B, 14
  GNAI3	99.08	0	Auriculocondylar syndrome 1
  GNAO1	99.66	0	Epileptic encephalopathy, early infantile, 17
  GNAS	97.96	0	Pseudohypoparathyroidism Ia
  GNPAT	97.06	0	Rhizomelic chondrodysplasia punctata, type 2
  GNPTAB	99.49	0	Mucolipidosis II alpha/beta
  GNPTG	90.19	0	Mucolipidosis III gamma
  GNS	99.55	0	Mucopolysaccharidosis type IIID
  GPC3	91.66	0	Simpson-Golabi-Behmel syndrome, type 1
  GPHN	99.58	0	Molybdenum cofactor deficiency C
  GPSM2	99.10	0	Chudley-McCullough syndrome
  GPT2	95.20	0	Mental retardation, autosomal recessive 49
  GRIA3	89.99	0	Mental retardation, X-linked 94
  GRID2	99.47	0	Spinocerebellar ataxia, autosomal recessive 18
  GRIK2	99.13	0	Mental retardation, autosomal recessive, 6
  GRIN1	99.54	0	Mental retardation, autosomal dominant 8
  GRIN2A	99.68	0	Epilepsy, focal, with speech disorder and with or without mental retardation
  GRIN2B	99.66	0	Mental retardation, autosomal dominant 6
  GRIP1	99.65	0	Fraser syndrome 3
  GRM1	99.46	0	Spinocerebellar ataxia 44
  GSS	99.59	0	Glutathione synthetase deficiency
  GTF2E2	98.86	0	Trichothiodystrophy 6, nonphotosensitive
  GTF2H5	99.64	0	Trichothiodystrophy 3, photosensitive
  GTPBP3	97.37	0	Combined oxidative phosphorylation deficiency 23
  GUSB	98.73	0	Mucopolysaccharidosis VII
  HACE1	96.37	0	Spastic paraplegia and psychomotor retardation with or without seizures
  HCFC1	99.76	0	Spastic paraplegia and psychomotor retardation with or without seizures
  HCN1	94.14	0	Epileptic encephalopathy, early infantile, 24
  HDAC4	99.68	0	Fisch et al., AJMG 2016 : ID
  HDAC8	99.17	0	Cornelia de Lange syndrome 5
  HECW2	99.50	0	Neurodevelopmental disorder with hypotonia, seizures, and absent language
  HEPACAM	91.30	0	Megalencephalic leukoencephalopathy with subcortical cysts 2B, remitting, with or without mental retardation
  HERC1	99.49	0	Macrocephaly, dysmorphic facies, and psychomotor retardation
  HERC2	99.66	0	Mental retardation, autosomal recessive 38
  HESX1	98.36	0	Growth hormone deficiency with pituitary anomalies
  HEXA	99.67	0	Tay-Sachs disease
  HEXB	97.84	0	Sandhoff disease, infantile, juvenile, and adult forms
  HGSNAT	94.00	0	Mucopolysaccharidosis type IIIC (Sanfilippo C)
  HIVEP2	99.60	0	Mental retardation, autosomal dominant 43
  HLCS	99.60	0	Holocarboxylase synthetase deficiency
  HNMT	99.26	0	Mental retardation, autosomal recessive 51
  HNRNPH2	99.85	0	Mental retardation, X-linked, syndromic, Bain type
  HNRNPK	99.17	0	Au-Kline syndrome
  HNRNPU	98.33	0	Epileptic encephalopathy, early infantile, 54
  HOXA1	99.65	0	Athabaskan brainstem dysgenesis syndrome
  HPRT1	75.78	0	Lesch-Nyhan syndrome
  HRAS	99.69	0	Costello syndrome
  HSD17B10	99.97	0	HSD10 mitochondrial disease
  HSPG2	98.62	0	Dyssegmental dysplasia, Silverman-Handmaker type
  HUWE1	97.92	0	Mental retardation, X-linked syndromic, Turner type
  IARS1	99.32	0	Growth retardation, intellectual developmental disorder, hypotonia, and hepatopathy
  IARS2	99.11	0	Cataracts, growth hormone deficiency, sensory neuropathy, sensorineural hearing loss, and skeletal dysplasia
  IDS	97.07	0	Mucopolysaccharidosis II
  IDUA	77.72	0	Mucopolysaccharidosis Ih/s
  IER3IP1	98.86	0	Microcephaly, epilepsy, and diabetes syndrome
  IFIH1	99.07	0	Aicardi-Goutieres syndrome 7
  IFT172	99.62	0	Short-rib thoracic dysplasia 10 with or without polydactyly
  IFT27	99.69	0	Bardet-Biedl syndrome 19
  IFT57	98.66	0	Thevenon et al., Clin Genet 2016 : Oro-facial-digital syndrome
  IGF1	99.63	0	Growth retardation with deafness and mental retardation due to IGF1 deficiency
  IL1RAPL1	93.86	0	Mental retardation, X-linked 21/34
  INPP5E	98.14	0	Joubert syndrome 1
  INTU	98.49	0	Bruel et al., JMG 2017 : oro-facial-digital syndrome
  IQSEC2	97.05	0	Mental retardation, X-linked 1/78
  IRX5	89.09	0	Hamamy syndrome
  CRPPA	92.51	0	Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A, 7
  ITGA7	99.67	0	Muscular dystrophy, congenital, due to ITGA7 deficiency
  ITPR1	99.38	0	Spinocerebellar ataxia 29, congenital nonprogressive
  JAM3	99.20	0	Hemorrhagic destruction of the brain, subependymal calcification, and cataracts
  KANSL1	99.63	0	Koolen-De Vries syndrome
  KAT6A	99.60	0	Mental retardation, autosomal dominant 32
  KAT6B	99.21	0	Genitopatellar syndrome
  KCNC1	99.05	0	Epilepsy, progressive myoclonic 7
  KCNC3	76.28	0	Spinocerebellar ataxia 13
  KCNH1	98.56	0	Temple-Baraitser syndrome
  KCNJ10	99.68	0	SESAME syndrome
  KCNJ11	99.69	0	Diabetes, permanent neonatal, with or without neurologic features
  KCNK9	99.67	0	Birk-Barel mental retardation dysmorphism syndrome
  KCNMA1	99.54	0	Paroxysmal nonkinesigenic dyskinesia, 3, with or without generalized epilepsy
  KCNQ2	98.93	0	Epileptic encephalopathy, early infantile, 7
  KCNQ5	96.45	0	Mental retardation, autosomal dominant 46
  KCNT1	98.70	0	Epileptic encephalopathy, early infantile, 14
  KCTD7	95.20	0	Epilepsy, progressive myoclonic 3, with or without intracellular inclusions
  KDM1A	96.83	0	Cleft palate, psychomotor retardation, and distinctive facial features
  KDM5C	99.87	0	Mental retardation, X-linked, syndromic, Claes-Jensen type
  KDM6A	94.07	0	Kabuki syndrome 2
  KIAA0586	92.34	0	Joubert syndrome 23
  KIAA0753	99.23	0	Orofaciodigital syndrome XV
  NEXMIF	97.66	0	Mental retardation, X-linked 98
  KIF11	98.74	0	Microcephaly with or without chorioretinopathy, lymphedema, or mental retardation
  KIF1A	99.66	0	Mental retardation, autosomal dominant 9
  KIFBP	96.44	0	Goldberg-Shprintzen megacolon syndrome
  KIF4A	99.41	0	Mental retardation, X-linked 100
  KIF5A	99.35	0	Myoclonus, intractable, neonatal
  KIF5C	96.19	0	Cortical dysplasia, complex, with other brain malformations 2
  KIF7	99.42	0	Joubert syndrome 12
  KIRREL3	99.66	0	Mental retardation, autosomal dominant 4
  KLC2	99.69	0	Spastic paraplegia, optic atrophy, and neuropathy
  KMT2A	97.93	0	Wiedemann-Steiner syndrome
  KMT2C	99.31	0	Kleefstra syndrome 2
  KMT2D	99.67	0	Kabuki syndrome 1
  KMT2E	98.54	0	Dong et al., Cell Rep 2014 : trouble du spectre autistique
  KMT5B	99.31	0	Stessman et al., Nat Genet 2017 : autisme et retard développemental
  KNL1	92.70	0	Microcephaly 4, primary, autosomal recessive
  KPTN	99.37	0	Mental retardation, autosomal recessive 41
  KRAS	99.32	0	Noonan syndrome 3
  L1CAM	99.66	0	CRASH syndrome
  L2HGDH	98.45	0	L-2-hydroxyglutaric aciduria
  LAMA1	99.13	0	Poretti-Boltshauser syndrome
  LAMA2	99.46	0	Muscular dystrophy, congenital, due to partial LAMA2 deficiency
  LAMB1	99.50	0	Lissencephaly 5
  LAMC3	97.99	0	Cortical malformations, occipital
  LAMP2	93.32	0	Danon disease
  LARGE1	99.64	0	Muscular dystrophy-dystroglycanopathy (congenital with mental retardation), type B, 6
  LARP7	97.40	0	Alazami syndrome
  LAS1L	99.76	0	Wilson-Turner syndrome
  LIAS	98.94	0	Hyperglycinemia, lactic acidosis, and seizures
  LIG4	99.55	0	LIG4 syndrome
  LINS1	98.65	0	Mental retardation, autosomal recessive 27
  LIPT1	98.69	0	Lipoyltransferase 1 deficiency
  LMBRD1	96.94	0	Methylmalonic aciduria and homocystinuria, cblF type
  LMNA	99.49	0	Emery-Dreifuss muscular dystrophy 3, AR
  LRP2	99.40	0	Donnai-Barrow syndrome
  LZTFL1	98.67	0	Bardet-Biedl syndrome 17
  LZTR1	99.56	0	Noonan syndrome 10
  MAGEL2	98.06	0	Schaaf-Yang syndrome
  MAN1B1	98.88	0	Mental retardation, autosomal recessive 15
  MAN2B1	99.40	0	Mannosidosis, alpha-, types I and II
  MANBA	99.01	0	Mannosidosis, beta
  MAOA	85.51	0	Brunner syndrome
  MAP2K1	99.62	0	Cardiofaciocutaneous syndrome 3
  MAP2K2	99.01	0	Cardiofaciocutaneous syndrome 4
  MASP1	99.59	0	3MC syndrome 1
  MAT1A	99.66	0	Hypermethioninemia, persistent, autosomal dominant, due to methionine adenosyltransferase I/III deficiency
  MBD5	99.52	0	Mental retardation, autosomal dominant 1
  MBOAT7	99.50	0	Mental retardation, autosomal recessive 57
  MBTPS2	96.46	0	IFAP syndrome with or without BRESHECK syndrome
  MCCC1	99.50	0	3-Methylcrotonyl-CoA carboxylase 1 deficiency
  MCOLN1	93.43	0	Mucolipidosis IV
  MCPH1	98.40	0	Microcephaly 1, primary, autosomal recessive
  MECP2	89.77	0	Rett syndrome
  MED12	99.82	0	Opitz-Kaveggia syndrome
  MED13L	99.52	0	Mental retardation and distinctive facial features with or without cardiac defects
  MED17	98.79	0	Microcephaly, postnatal progressive, with seizures and brain atrophy
  MED23	98.87	0	Mental retardation, autosomal recessive 18
  MEF2C	99.52	0	Mental retardation, stereotypic movements, epilepsy, and/or cerebral malformations
  MEIS2	99.65	0	Cleft palate, cardiac defects, and mental retardation
  METTL23	99.62	0	Mental retardation, autosomal recessive 44
  MFSD8	99.30	0	Ceroid lipofuscinosis, neuronal, 7
  MID1	97.46	0	Opitz GBBB syndrome, type I
  MKKS	99.58	0	Bardet-Biedl syndrome 6
  MKS1	99.54	0	Bardet-Biedl syndrome 13
  MLYCD	87.33	0	Malonyl-CoA decarboxylase deficiency
  MMACHC	99.68	0	Methylmalonic aciduria and homocystinuria, cblC type
  MOCS1	99.68	0	Molybdenum cofactor deficiency A
  MOCS2	99.48	0	Molybdenum cofactor deficiency B
  MOGS	92.25	0	Congenital disorder of glycosylation, type IIb
  MPDU1	99.69	0	Congenital disorder of glycosylation, type If
  MPDZ	99.22	0	Hydrocephalus, nonsyndromic, autosomal recessive 2
  MPLKIP	99.63	0	Trichothiodystrophy 4, nonphotosensitive
  MTFMT	97.00	0	Combined oxidative phosphorylation deficiency 15
  MTHFR	99.58	0	Homocystinuria due to MTHFR deficiency
  MTM1	94.11	0	Myotubular myopathy, X-linked
  MTOR	99.61	0	Smith-Kingsmore syndrome
  MTR	99.55	0	Homocystinuria-megaloblastic anemia, cblG complementation type
  MTRR	99.33	0	Homocystinuria-megaloblastic anemia, cbl E type
  MVK	99.69	0	Mevalonic aciduria
  MYCN	82.91	0	Feingold syndrome 1
  MYO5A	97.60	0	Griscelli syndrome, type 1
  MYT1L	99.59	0	Mental retardation, autosomal dominant 39
  NAA10	87.47	0	Ogden syndrome
  NACC1	99.66	0	Neurodevelopmental disorder with epilepsy, cataracts, feeding difficulties, and delayed brain myelination
  NAGA	99.67	0	Schindler disease, type I
  NAGLU	84.28	0	Mucopolysaccharidosis type IIIB (Sanfilippo B)
  NALCN	99.38	0	Congenital contractures of the limbs and face, hypotonia, and developmental delay
  NARS2	98.96	0	Combined oxidative phosphorylation deficiency 24
  NBN	98.67	0	Nijmegen breakage syndrome
  NDE1	99.69	0	Lissencephaly 4 (with microcephaly)
  NDP	99.56	0	Norrie disease
  NDST1	99.67	0	Mental retardation, autosomal recessive 46
  NDUFA1	97.69	0	Mitochondrial complex I deficiency
  NDUFA11	99.69	0	Mitochondrial complex I deficiency
  NDUFA12	99.64	0	Leigh syndrome due to mitochondrial complex 1 deficiency
  NDUFA2	99.69	0	Leigh syndrome due to mitochondrial complex I deficiency
  NDUFA9	99.27	0	Leigh syndrome due to mitochondrial complex I deficiency
  NDUFAF6	89.55	0	Leigh syndrome due to mitochondrial complex I deficiency
  NDUFS2	99.25	0	Mitochondrial complex I deficiency
  NDUFS3	99.67	0	Leigh syndrome due to mitochondrial complex I deficiency
  NDUFS4	99.05	0	Mitochondrial complex I deficiency
  NDUFS7	99.38	0	Leigh syndrome
  NEDD4L	98.92	0	Periventricular nodular heterotopia 7
  NFIA	99.44	0	Brain malformations and urinary tract defects
  NFIX	99.64	0	Sotos syndrome 2
  NGF	99.66	0	Neuropathy, hereditary sensory and autonomic, type V
  NHEJ1	99.67	0	Severe combined immunodeficiency with microcephaly, growth retardation, and sensitivity to ionizing radiation
  NHP2	99.64	0	Dyskeratosis congenita, autosomal recessive 2
  NHS	88.25	0	Nance-Horan syndrome
  NIN	99.20	0	Seckel syndrome 7
  NIPBL	98.53	0	Cornelia de Lange syndrome 1
  NKX2-1	92.05	0	Choreoathetosis, hypothyroidism, and neonatal respiratory distress
  NONO	98.37	0	Mental retardation, X-linked, syndromic 34
  NOTCH1	96.74	0	Adams-Oliver syndrome 5
  NPC1	98.34	0	Niemann-Pick disease, type C1
  NPC2	99.67	0	Niemann-pick disease, type C2
  NPHP1	99.24	0	Joubert syndrome 4
  NPHP3	98.15	0	Meckel syndrome 7
  NR2F1	86.66	0	Bosch-Boonstra-Schaaf optic atrophy syndrome
  NR5A1	99.25	0	Adrenocortical insufficiency
  NRAS	99.61	0	Noonan syndrome 6
  NRXN1	99.52	0	Pitt-Hopkins-like syndrome 2
  NSD1	99.26	0	Sotos syndrome 1
  NSDHL	99.39	0	CHILD syndrome
  NSUN2	95.86	0	Mental retardation, autosomal recessive 5
  OCLN	99.47	0	Pseudo-TORCH syndrome 1
  OCRL	92.17	0	Lowe syndrome
  OFD1	92.99	0	Orofaciodigital syndrome I
  OGT	96.41	0	Mental retardation, X-linked 106
  OPHN1	90.64	0	Mental retardation, X-linked, with cerebellar hypoplasia and distinctive facial appearance
  ORC1	99.49	0	Meier-Gorlin syndrome 1
  ORC4	98.60	0	Meier-Gorlin syndrome 2
  ORC6	98.10	0	Meier-Gorlin syndrome 3
  OSGEP	99.65	0	Braun et al., Nat Genet 2017 : Galloway-Mowat syndrome
  OTC	92.10	0	Ornithine transcarbamylase deficiency
  OTUD6B	97.03	0	Intellectual developmental disorder with dysmorphic facies, seizures, and distal limb anomalies
  PACS1	97.17	0	Schuurs-Hoeijmakers syndrome
  PAFAH1B1	98.98	0	Lissencephaly 1
  PAH	99.66	0	Phenylketonuria
  PAK3	87.10	0	Mental retardation, X-linked 30/47
  PANK2	95.75	0	Neurodegeneration with brain iron accumulation 1
  PAX1	82.57	0	Otofaciocervical syndrome 2
  PAX3	99.68	0	Craniofacial-deafness-hand syndrome
  PAX6	99.51	0	Aniridia
  PC	99.69	0	Pyruvate carboxylase deficiency
  PCDH19	99.22	0	Epileptic encephalopathy, early infantile, 9
  PCGF2	99.69	0	Fitzgerald et al., Nature 2015 : retard mental, retard dévelopemental
  PCNT	99.50	0	Microcephalic osteodysplastic primordial dwarfism, type II
  PDE4D	97.76	0	Acrodysostosis 2, with or without hormone resistance
  PDHA1	97.16	0	Pyruvate dehydrogenase E1-alpha deficiency
  PDHB	99.40	0	Pyruvate dehydrogenase E1-beta deficiency
  PDHX	98.49	0	Lacticacidemia due to PDX1 deficiency
  PDSS1	82.84	0	Coenzyme Q10 deficiency, primary, 2
  PDSS2	98.95	0	Coenzyme Q10 deficiency, primary, 3
  PEPD	99.61	0	Prolidase deficiency
  PEX1	98.83	0	Peroxisome biogenesis disorder 1A (Zellweger)
  PEX10	83.86	0	Peroxisome biogenesis disorder 6A (Zellweger)
  PEX11B	99.63	0	Peroxisome biogenesis disorder 14B
  PEX12	99.40	0	Peroxisome biogenesis disorder 3A (Zellweger)
  PEX13	99.25	0	Peroxisome biogenesis disorder 11A (Zellweger)
  PEX14	99.66	0	Peroxisome biogenesis disorder 13A (Zellweger)
  PEX16	99.69	0	Peroxisome biogenesis disorder 8A (Zellweger)
  PEX19	99.60	0	Peroxisome biogenesis disorder 12A (Zellweger)
  PEX2	99.69	0	Peroxisome biogenesis disorder 5A (Zellweger)
  PEX26	96.96	0	Peroxisome biogenesis disorder 7A (Zellweger)
  PEX3	98.89	0	Peroxisome biogenesis disorder 10A (Zellweger)
  PEX5	99.15	0	Peroxisome biogenesis disorder 2A (Zellweger)
  PEX6	98.57	0	Peroxisome biogenesis disorder 4A (Zellweger)
  PEX7	90.36	0	Peroxisome biogenesis disorder 9B
  PGAP1	97.25	0	Mental retardation, autosomal recessive 42
  PGAP2	99.68	0	Hyperphosphatasia with mental retardation syndrome 3
  PGAP3	99.15	0	Hyperphosphatasia with mental retardation syndrome 4
  PGK1	99.16	0	Phosphoglycerate kinase 1 deficiency
  PHC1	99.66	0	Microcephaly 11, primary, autosomal recessive
  PHF6	84.23	0	Borjeson-Forssman-Lehmann syndrome
  PHF8	99.04	0	Mental retardation syndrome, X-linked, Siderius type
  PHGDH	99.67	0	Phosphoglycerate dehydrogenase deficiency
  PHIP	95.93	0	Webster et al., Cold Spring Harb Mol Case Stud. 2016 : DD, ID, obésité et dysmorphies
  PIGA	92.30	0	Multiple congenital anomalies-hypotonia-seizures syndrome 2
  PIGG	99.54	0	Mental retardation, autosomal recessive 53
  PIGL	99.59	0	CHIME syndrome
  PIGN	97.78	0	Multiple congenital anomalies-hypotonia-seizures syndrome 1
  PIGO	99.67	0	Hyperphosphatasia with mental retardation syndrome 2
  PIGT	99.63	0	Multiple congenital anomalies-hypotonia-seizures syndrome 3
  PIGV	99.66	0	Hyperphosphatasia with mental retardation syndrome 1
  PIGW	99.68	0	Hyperphosphatasia with mental retardation syndrome 5
  PIGY	99.66	0	Hyperphosphatasia with mental retardation syndrome 6
  PIK3R2	91.70	0	Megalencephaly-polymicrogyria-polydactyly-hydrocephalus syndrome 1
  PLA2G6	99.69	0	Neurodegeneration with brain iron accumulation 2B
  PLCB1	99.15	0	Epileptic encephalopathy, early infantile, 12
  PLCB4	99.09	0	Auriculocondylar syndrome 2
  PLOD1	98.58	0	Ehlers-Danlos syndrome, type VI
  PLP1	99.86	0	Pelizaeus-Merzbacher disease
  PMM2	98.47	0	Congenital disorder of glycosylation, type Ia
  PNKP	99.68	0	Microcephaly, seizures, and developmental delay
  PNP	99.66	0	Immunodeficiency due to purine nucleoside phosphorylase deficiency
  POC1A	99.26	0	Short stature, onychodysplasia, facial dysmorphism, and hypotrichosis
  POGZ	98.81	0	White-Sutton syndrome
  POLG	99.59	0	Mitochondrial DNA depletion syndrome 4B (MNGIE type)
  POLH	99.55	0	Xeroderma pigmentosum, variant type
  POLR3A	99.40	0	Leukodystrophy, hypomyelinating, 7, with or without oligodontia and/or hypogonadotropic hypogonadism
  POLR3B	99.29	0	Leukodystrophy, hypomyelinating, 8, with or without oligodontia and/or hypogonadotropic hypogonadism
  POMGNT1	99.66	0	Muscular dystrophy-dystroglycanopathy (congenital with mental retardation), type B, 3
  POMGNT2	99.69	0	Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies, type A, 8
  POMK	99.66	0	Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A, 12
  POMT1	99.56	0	Muscular dystrophy-dystroglycanopathy (congenital with mental retardation), type B, 1
  POMT2	98.42	0	Muscular dystrophy-dystroglycanopathy (congenital with mental retardation), type B, 2
  PORCN	99.91	0	Focal dermal hypoplasia
  PPM1D	98.20	0	Intellectual developmental disorder with gastrointestinal difficulties and high pain threshold
  PPP1CB	99.40	0	Noonan syndrome-like disorder with loose anagen hair 2
  PPP2R1A	99.69	0	Mental retardation, autosomal dominant 36
  PPP2R5D	99.64	0	Mental retardation, autosomal dominant 35
  PPT1	99.67	0	Ceroid lipofuscinosis, neuronal, 1
  PQBP1	99.90	0	Renpenning syndrome
  PRICKLE1	99.67	0	Epilepsy, progressive myoclonic 1B
  PRMT7	99.21	0	Short stature, brachydactyly, intellectual developmental disability, and seizures
  PRPS1	98.61	0	Arts syndrome
  PRSS12	98.69	0	Mental retardation, autosomal recessive 1
  PSAP	99.68	0	Krabbe disease, atypical
  PSMD12	99.44	0	Stankiewicz-Isidor syndrome
  PTCH1	97.64	0	Holoprosencephaly 7
  PTCHD1	99.37	0	Autism, susceptibility to, X-linked 4
  PTDSS1	99.56	0	Lenz-Majewski hyperostotic dwarfism
  PTEN	98.68	0	Cowden syndrome 1
  PTPN11	97.30	0	LEOPARD syndrome 1
  PUF60	99.56	0	Verheij syndrome
  PURA	84.89	0	Mental retardation, autosomal dominant 31
  PUS1	93.31	0	Myopathy, lactic acidosis, and sideroblastic anemia 1
  PYCR1	99.67	0	Cutis laxa, autosomal recessive, type IIB
  QDPR	96.67	0	Hyperphenylalaninemia, BH4-deficient, C
  RAB18	98.43	0	Warburg micro syndrome 3
  RAB27A	95.80	0	Griscelli syndrome, type 2
  RAB39B	99.96	0	Mental retardation, X-linked 72
  RAB3GAP1	99.24	0	Warburg micro syndrome 1
  RAB3GAP2	99.14	0	Martsolf syndrome
  RAC1	87.43	0	Mental retardation, autosomal dominant 48
  RAD21	99.34	0	Cornelia de Lange syndrome 4
  RAF1	99.65	0	Noonan syndrome 5
  RAI1	97.85	0	Smith-Magenis syndrome
  RARB	99.52	0	Microphthalmia, syndromic 12
  RARS2	99.20	0	Pontocerebellar hypoplasia, type 6
  RASA2	95.15	0	Aoki et al., JHG 2016 : RASopathie
  RAX	78.51	0	Microphthalmia, isolated 3
  RBBP8	96.69	0	Seckel syndrome 2
  RBM10	99.86	0	TARP syndrome
  RBM28	99.55	0	Alopecia, neurologic defects, and endocrinopathy syndrome
  RBM8A	99.68	0	Thrombocytopenia-absent radius syndrome
  RBPJ	99.36	0	Adams-Oliver syndrome 3
  RECQL4	91.13	0	Baller-Gerold syndrome
  RELN	99.47	0	Lissencephaly 2 (Norman-Roberts type)
  RERE	99.45	0	Neurodevelopmental disorder with or without anomalies of the brain, eye, or heart
  RFT1	97.48	0	Congenital disorder of glycosylation, type In
  RIT1	99.66	0	Noonan syndrome 8
  RMND1	98.79	0	Combined oxidative phosphorylation deficiency 11
  RNASEH2A	99.69	0	Aicardi-Goutieres syndrome 4
  RNASEH2B	90.13	0	Aicardi-Goutieres syndrome 2
  RNASEH2C	96.74	0	Aicardi-Goutieres syndrome 3
  RNASET2	99.45	0	Leukoencephalopathy, cystic, without megalencephaly
  RNF113A	99.85	0	Trichothiodystrophy 5, nonphotosensitive
  ROGDI	90.00	0	Kohlschutter-Tonz syndrome
  RPGRIP1L	95.44	0	Joubert syndrome 7
  RPIA	98.01	0	Ribose 5-phosphate isomerase deficiency
  RPS6KA3	85.79	0	Coffin-Lowry syndrome
  RRAS	94.39	0	Flex et al., HMG 2014 : RASopathie
  RTEL1	99.69	0	Dyskeratosis congenita, autosomal recessive 5
  RTTN	98.71	0	Microcephaly, short stature, and polymicrogyria with seizures
  SALL1	99.68	0	Townes-Brocks branchiootorenal-like syndrome
  SAMHD1	99.47	0	Aicardi-Goutieres syndrome 5
  SATB2	99.46	0	Glass syndrome
  SC5D	99.08	0	Lathosterolosis
  SCN1A	98.95	0	Epileptic encephalopathy, early infantile, 6 (Dravet syndrome)
  SCN2A	98.85	0	Epileptic encephalopathy, early infantile, 11
  SCN8A	99.37	0	Epileptic encephalopathy, early infantile, 13
  SCO2	99.68	0	Cardioencephalomyopathy, fatal infantile, due to cytochrome c oxidase deficiency 1
  SDCCAG8	99.19	0	Bardet-Biedl syndrome 16
  SDHAF1	66.11	0	Mitochondrial complex II deficiency
  SEPSECS	99.07	0	Pontocerebellar hypoplasia type 2D
  SERAC1	98.98	0	3-methylglutaconic aciduria with deafness, encephalopathy, and Leigh-like syndrome
  SETBP1	98.39	0	Mental retardation, autosomal dominant 29
  SETD2	99.30	0	Luscan-Lumish syndrome
  SETD5	99.55	0	Mental retardation, autosomal dominant 23
  SGSH	96.47	0	Mucopolysaccharidosis type IIIA (Sanfilippo A)
  SHANK2	83.77	0	Autism susceptibility 17
  SHANK3	78.63	0	Phelan-McDermid syndrome
  SHH	90.25	0	Holoprosencephaly 3
  SHOC2	97.89	0	Noonan-like syndrome with loose anagen hair
  SHROOM4	99.52	0	Stocco dos Santos X-linked mental retardation syndrome
  SIL1	99.65	0	Marinesco-Sjogren syndrome
  SIN3A	99.56	0	Witteveen-Kolk syndrome
  SIX3	89.54	0	Holoprosencephaly 2
  SKI	93.23	0	Shprintzen-Goldberg syndrome
  SLC12A6	99.13	0	Agenesis of the corpus callosum with peripheral neuropathy
  SLC16A2	99.71	0	Allan-Herndon-Dudley syndrome
  SLC17A5	98.53	0	Salla disease
  SLC19A3	99.50	0	Thiamine metabolism dysfunction syndrome 2 (biotin- or thiamine-responsive encephalopathy type 2)
  SLC1A4	97.40	0	Spastic tetraplegia, thin corpus callosum, and progressive microcephaly
  SLC25A1	86.05	0	Combined D-2- and L-2-hydroxyglutaric aciduria
  SLC25A12	99.45	0	Epileptic encephalopathy, early infantile, 39
  SLC25A15	99.57	0	Hyperornithinemia-hyperammonemia-homocitrullinemia syndrome
  SLC25A19	99.66	0	Microcephaly, Amish type
  SLC25A22	99.68	0	Epileptic encephalopathy, early infantile, 3
  SLC2A1	93.34	0	GLUT1 deficiency syndrome 1, infantile onset, severe
  SLC33A1	98.70	0	Congenital cataracts, hearing loss, and neurodegeneration
  SLC35A2	99.98	0	Congenital disorder of glycosylation, type IIm
  SLC35C1	99.69	0	Congenital disorder of glycosylation, type IIc
  SLC45A1	92.61	0	Intellectual developmental disorder with neuropsychiatric features
  SLC46A1	97.75	0	Folate malabsorption, hereditary
  SLC4A4	99.23	0	Renal tubular acidosis, proximal, with ocular abnormalities
  SLC6A1	99.61	0	Myoclonic-atonic epilepsy
  SLC6A17	99.68	0	Mental retardation, autosomal recessive 48
  SLC6A3	99.68	0	Parkinsonism-dystonia, infantile
  SLC6A8	92.97	0	Cerebral creatine deficiency syndrome 1
  SLC7A7	99.67	0	Lysinuric protein intolerance
  SLC9A6	80.47	0	Mental retardation, X-linked syndromic, Christianson type
  SMARCA2	97.63	0	Nicolaides-Baraitser syndrome
  SMARCA4	99.68	0	Coffin-Siris syndrome 4
  SMARCB1	99.47	0	Coffin-Siris syndrome 3
  SMARCE1	98.87	0	Coffin-Siris syndrome 5
  SMC1A	97.41	0	Cornelia de Lange syndrome 2
  SMC3	98.62	0	Cornelia de Lange syndrome 3
  SMOC1	98.99	0	Microphthalmia with limb anomalies
  SMPD1	99.68	0	Niemann-Pick disease, type A
  SMS	83.70	0	Mental retardation, X-linked, Snyder-Robinson type
  SNAP29	98.97	0	Cerebral dysgenesis, neuropathy, ichthyosis, and palmoplantar keratoderma syndrome
  SNIP1	99.59	0	Psychomotor retardation, epilepsy, and craniofacial dysmorphism
  SNX14	97.83	0	Spinocerebellar ataxia, autosomal recessive 20
  SOBP	96.13	0	Mental retardation, anterior maxillary protrusion, and strabismus
  SON	99.42	0	ZTTK syndrome
  SOS1	98.22	0	Noonan syndrome 4
  SOS2	98.32	0	Noonan syndrome 9
  SOX10	93.26	0	Waardenburg syndrome, type 2E, with or without neurologic involvement
  SOX11	84.37	0	Mental retardation, autosomal dominant, 27
  SOX2	95.94	0	Optic nerve hypoplasia and abnormalities of the central nervous system
  SOX5	99.56	0	Lamb-Shaffer syndrome
  AFG2A	98.88	0	Epilepsy, hearing loss, and mental retardation syndrome
  SPECC1L	99.49	0	Opitz GBBB syndrome, type II
  SPR	77.10	0	Dystonia, dopa-responsive, due to sepiapterin reductase deficiency
  SPRED1	99.22	0	Legius syndrome
  SPTAN1	99.48	0	Epileptic encephalopathy, early infantile, 5
  SRCAP	99.65	0	Floating-Harbor syndrome
  SRD5A3	96.86	0	Congenital disorder of glycosylation, type Iq
  ST3GAL3	99.66	0	Mental retardation, autosomal recessive 12
  ST3GAL5	85.32	0	Salt and pepper developmental regression syndrome
  STAG1	98.01	0	Mental retardation, autosomal dominant 47
  STAMBP	99.58	0	Microcephaly-capillary malformation syndrome
  STIL	99.24	0	Microcephaly 7, primary, autosomal recessive
  STRA6	99.67	0	Microphthalmia, syndromic 9
  STT3A	99.55	0	Congenital disorder of glycosylation, type Iw
  STT3B	95.54	0	Congenital disorder of glycosylation, type Ix
  STX1B	99.68	0	Generalized epilepsy with febrile seizures plus, type 9
  STXBP1	99.55	0	Epileptic encephalopathy, early infantile, 4
  SUCLG1	98.06	0	Mitochondrial DNA depletion syndrome 9 (encephalomyopathic type with methylmalonic aciduria)
  SUOX	99.68	0	Sulfite oxidase deficiency
  SURF1	86.96	0	Leigh syndrome, due to COX IV deficiency
  SYN1	88.25	0	Epilepsy, X-linked, with variable learning disabilities and behavior disorders
  SYNCRIP	99.45	0	Lelieveld et al., Nat Neurosci 2016 : ID
  SYNE1	99.44	0	Spinocerebellar ataxia, autosomal recessive 8
  SYNGAP1	99.68	0	Mental retardation, autosomal dominant 5
  SYP	93.14	0	Mental retardation, X-linked 96
  SYT14	88.69	0	Spinocerebellar ataxia, autosomal recessive 11
  TAF1	97.05	0	Mental retardation, X-linked, syndromic 33
  TAF2	98.57	0	Mental retardation, autosomal recessive 40
  TBC1D23	97.70	0	Pontocerebellar hypoplasia, type 11
  TBC1D24	99.68	0	Epileptic encephalopathy, early infantile, 16
  TBC1D7	98.94	0	Macrocephaly/megalencephaly syndrome, autosomal recessive
  TBCE	98.41	0	Hypoparathyroidism-retardation-dysmorphism syndrome
  TBCK	98.05	0	Hypotonia, infantile, with psychomotor retardation and characteristic facies 3
  TBL1XR1	98.00	0	Mental retardation, autosomal dominant 41
  TCF20	99.69	0	Schäfgen et al., EJHG 2016 : TSA, DI, croissance excessive et hypotonie
  TCF4	99.65	0	Pitt-Hopkins syndrome
  TCOF1	99.61	0	Treacher Collins syndrome 1
  TCTN1	99.08	0	Joubert syndrome 13
  TCTN2	99.05	0	Joubert syndrome 24
  TCTN3	99.61	0	Joubert syndrome 18
  TECPR2	99.41	0	Spastic paraplegia 49, autosomal recessive
  TECR	99.69	0	Mental retardation, autosomal recessive 14
  TFAP2A	99.48	0	Branchiooculofacial syndrome
  TGIF1	99.69	0	Holoprosencephaly 4
  TH	98.57	0	Segawa syndrome, recessive
  THOC2	91.08	0	Mental retardation, X-linked 12/35
  THOC6	99.66	0	Beaulieu-Boycott-Innes syndrome
  THRA	99.60	0	Hypothyroidism, congenital, nongoitrous, 6
  TIMM8A	99.66	0	Mohr-Tranebjaerg syndrome
  TINF2	99.67	0	Dyskeratosis congenita, autosomal dominant 3
  TMCO1	95.48	0	Craniofacial dysmorphism, skeletal anomalies, and mental retardation syndrome
  TMEM107	99.69	0	Orofaciodigital syndrome XVI
  TMEM138	99.68	0	Joubert syndrome 16
  TMEM165	87.14	0	Congenital disorder of glycosylation, type IIk
  TMEM216	99.69	0	Joubert syndrome 2
  TMEM231	99.62	0	Joubert syndrome 20
  TMEM237	97.88	0	Joubert syndrome 14
  TMEM67	97.57	0	Joubert syndrome 6
  TMEM70	97.01	0	Mitochondrial complex V (ATP synthase) deficiency, nuclear type 2
  TNK2	99.30	0	Hitomi et al., Ann Neurol 2013 : severe autosomal recessive infantile-onset epilepsy and ID
  TPK1	98.92	0	Thiamine metabolism dysfunction syndrome 5 (episodic encephalopathy type)
  TPP1	99.65	0	Spinocerebellar ataxia, autosomal recessive 7
  TRAPPC11	98.70	0	Muscular dystrophy, limb-girdle, type 2S
  TRAPPC9	99.57	0	Mental retardation, autosomal recessive 13
  TREX1	99.69	0	Aicardi-Goutieres syndrome 1, dominant and recessive
  TRIM32	99.68	0	Bardet-Biedl syndrome 11
  TRIO	97.17	0	Mental retardation, autosomal dominant 44
  TRIP12	99.18	0	Zhang et al., Hum Gen 2017 : intellectual disability with or without autism spectrum disorders, speech delay, and dysmorphic features.
  TRMT10A	99.08	0	Microcephaly, short stature, and impaired glucose metabolism 1
  TRMU	94.99	0	Liver failure, transient infantile
  TRPV4	99.64	0	Spondylometaphyseal dysplasia, Kozlowski type
  TSEN2	99.60	0	Pontocerebellar hypoplasia type 2B
  TSEN54	87.28	0	Pontocerebellar hypoplasia type 2A
  TSFM	85.15	0	Combined oxidative phosphorylation deficiency 3
  TSPAN7	98.69	0	Mental retardation, X-linked 58
  SKIC3	99.17	0	Trichohepatoenteric syndrome 1
  TTC8	98.67	0	Bardet-Biedl syndrome 8
  TTI2	99.57	0	Mental retardation, autosomal recessive 39
  TUBA1A	99.69	0	Lissencephaly 3
  TUBA8	97.24	0	Cortical dysplasia, complex, with other brain malformations 8
  TUBB2A	95.11	0	Cortical dysplasia, complex, with other brain malformations 5
  TUBB2B	99.68	0	Cortical dysplasia, complex, with other brain malformations 7
  TUBB3	94.69	0	Cortical dysplasia, complex, with other brain malformations 1
  TUBB4A	98.34	0	Leukodystrophy, hypomyelinating, 6
  TUBG1	99.69	0	Cortical dysplasia, complex, with other brain malformations 4
  TUBGCP6	99.69	0	Microcephaly and chorioretinopathy, autosomal recessive, 1
  TUSC3	99.45	0	Mental retardation, autosomal recessive 7
  TWIST1	59.51	0	Saethre-Chotzen syndrome
  UBE2A	81.32	0	Mental retardation, X-linked syndromic, Nascimento-type
  UBE3A	98.84	0	Angelman syndrome
  UBE3B	99.43	0	Kaufman oculocerebrofacial syndrome
  UBR1	98.99	0	Johanson-Blizzard syndrome
  UNC80	99.46	0	Hypotonia, infantile, with psychomotor retardation and characteristic facies 2
  UPF3B	90.82	0	Mental retardation, X-linked, syndromic 14
  UQCRQ	99.62	0	Mitochondrial complex III deficiency, nuclear type 4
  UROC1	99.69	0	Urocanase deficiency
  USP18	99.69	0	Pseudo-TORCH syndrome 2
  USP9X	93.59	0	Mental retardation, X-linked 99
  VLDLR	97.10	0	Cerebellar hypoplasia and mental retardation with or without quadrupedal locomotion 1
  VPS13B	98.95	0	Cohen syndrome
  VRK1	99.08	0	Pontocerebellar hypoplasia type 1A
  WAC	97.24	0	Desanto-Shinawi syndrome
  WDPCP	98.77	0	Bardet-Biedl syndrome 15
  WDR26	99.46	0	Skraban-Deardorff syndrome
  WDR45	99.94	0	Neurodegeneration with brain iron accumulation 5
  WDR45B	98.84	0	Suleiman et al., Clin Genet 2017 : intellectual disability, spastic quadriplegia, epilepsy, and cerebral hypoplasia
  WDR62	99.58	0	Microcephaly 2, primary, autosomal recessive, with or without cortical malformations
  WDR73	99.54	0	Galloway-Mowat syndrome
  WDR81	99.65	0	Cerebellar ataxia, mental retardation, and dysequilibrium syndrome 2
  WWOX	99.63	0	Epileptic encephalopathy, early infantile, 28
  XPA	95.49	0	Xeroderma pigmentosum, group A
  XPC	99.66	0	Xeroderma pigmentosum, group C
  XYLT1	91.40	0	Desbuquois dysplasia 2
  YAP1	95.59	0	Coloboma, ocular, with or without hearing impairment, cleft lip/palate, and/or mental retardation
  YY1	97.61	0	Gabriele-de Vries syndrome
  ZBTB16	99.69	0	Skeletal defects, genital hypoplasia, and mental retardation
  ZBTB18	99.10	0	Mental retardation, autosomal dominant 22
  ZBTB20	99.63	0	Primrose syndrome
  ZBTB24	99.63	0	Immunodeficiency-centromeric instability-facial anomalies syndrome-2
  ZC4H2	97.81	0	Wieacker-Wolff syndrome
  ZDHHC9	98.90	0	Mental retardation, X-linked syndromic, Raymond type
  ZEB2	99.54	0	Mowat-Wilson syndrome
  ZFYVE26	99.53	0	Spastic paraplegia 15, autosomal recessive
  ZIC2	67.20	0	Holoprosencephaly 5
  ZMPSTE24	98.68	0	Mandibuloacral dysplasia with type B lipodystrophy
  ZMYND11	99.50	0	Mental retardation, autosomal dominant 30
  ZNF335	99.63	0	Microcephaly 10, primary, autosomal recessive
  ZNF41	99.90	0	Shoichet et al., AJHG 2013 : X-Linked Mental Retardation
  ZNF711	89.61	0	Mental retardation, X-linked 97

• 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

• Myopathy (332 genes) - IPG
  Details

  Gene	% of coding sequence sufficiently covered to detect heterozygous mutations	Copy number variation	Comments
  AARS1	100.00	1	NM_001605.3
  ABHD5	100.00	1	NM_016006.6
  ACAD9	100.00	1	NM_014049.5
  ACADM	100.00	1	NM_000016.6
  ACADVL	100.00	1	NM_000018.4
  ACTA1	100.00	1	NM_001100.4
  ACVR1	100.00	1	NM_001111067.4
  ADSS1	100.00	1	NM_199165.2
  AGK	100.00	1	NM_018238.4
  AGL	100.00	1	NM_000642.3
  AGRN	100.00	1	NM_198576.4
  AIFM1	100.00	1	NM_004208.4
  ALDOA	100.00	1	NM_184041.4
  ALG13	98.00	1	NM_001099922.3
  ALG14	100.00	1	NM_144988.4
  ALG2	100.00	1	NM_033087.4
  ALS2	100.00	1	NM_020919.4
  AMPD1	100.00	1	NM_000036.2
  ANG	100.00	1	NM_001145.4
  ANO5	100.00	1	NM_213599.3
  AR	100.00	1	NM_000044.6
  ASAH1	100.00	1	NM_177924.5
  ASCC1	100.00	1	NM_001198800.3
  ATP2A1	100.00	1	NM_004320.6
  ATP7A	100.00	1	NM_000052.7
  ATXN2	100.00	1	NM_001372574.1
  B3GALNT2	100.00	1	NM_152490.5
  B4GAT1	100.00	1	NM_006876.3
  BAG3	100.00	1	NM_004281.4
  BCS1L	100.00	1	NM_001079866.2
  BICD2	100.00	1	NM_001003800.2
  BIN1	100.00	1	NM_139343.3
  BSCL2	100.00	1	NM_001122955.3
  BVES	100.00	1	NM_001199563.2
  C1QBP	100.00	1	NM_001212.4
  C9ORF72	100.00	0	NM_018325.5
  CACNA1A	100.00	1	NM_023035.3
  CACNA1S	100.00	1	NM_000069.3
  CAPN3	100.00	1	NM_000070.3
  CASQ1	100.00	1	NM_001231.5
  CAV3	100.00	1	NM_033337.3
  CAVIN1	100.00	1	NM_012232.6
  CCDC78	100.00	1	NM_001031737.3
  CFL2	100.00	1	NM_138638.5
  CHAT	100.00	1	NM_020549.4
  CHCHD10	100.00	1	NM_213720.3
  CHKB	100.00	1	NM_005198.5
  CHMP2B	100.00	1	NM_014043.4
  CHRNA1	100.00	1	NM_000079.4
  CHRNB1	100.00	1	NM_000747.3
  CHRND	100.00	1	NM_000751.3
  CHRNE	100.00	1	NM_000080.4
  CHRNG	100.00	1	NM_005199.5
  CHST14	100.00	1	NM_130468.4
  CLCN1	100.00	1	NM_000083.3
  CLN3	100.00	1	NM_001042432.2
  CNBP	100.00	1	NM_003418.5
  CNTN1	100.00	1	NM_001843.4
  COL12A1	100.00	1	NM_004370.6
  COL13A1	100.00	1	NM_001130103.2
  COL6A1	100.00	1	NM_001848.3
  COL6A2	100.00	1	NM_001849.4
  COL6A3	100.00	1	NM_004369.4
  COLQ	100.00	1	NM_005677.4
  COQ9	100.00	1	NM_020312.4
  COX10	100.00	1	NM_001303.4
  COX15	100.00	1	NM_078470.6
  COX20	100.00	1	NM_198076.6
  COX6B1	100.00	1	NM_001863.5
  COX8A	100.00	1	NM_004074.3
  CPT2	100.00	1	NM_000098.3
  CRPPA	100.00	1	NM_001101426.4
  CRYAB	100.00	1	NM_001289808.2
  DAG1	100.00	1	NM_001177634.2
  DCTN1	100.00	1	NM_004082.4
  DES	100.00	1	NM_001927.4
  DGUOK	100.00	1	NM_080916.3
  DMD	100.00	1	NM_004006.2
  DMPK	100.00	1	NM_004409.5
  DNA2	100.00	1	NM_001080449.3
  DNAJB2	100.00	1	NM_006736.6
  DNAJB6	100.00	1	NM_058246.4
  DNM2	100.00	1	NM_001005361.3
  DNMT3B	100.00	1	NM_006892.4
  DOK7	100.00	1	NM_173660.5
  DPAGT1	100.00	1	NM_001382.4
  DPM1	99.00	1	NM_001317035.1
  DPM2	100.00	1	NM_003863.4
  DPM3	100.00	1	NM_153741.2
  DYNC1H1	100.00	1	NM_001376.5
  DYSF	100.00	1	NM_001130987.2
  ECEL1	100.00	1	NM_004826.4
  EMD	100.00	1	NM_000117.3
  ENO3	100.00	1	NM_053013.4
  ERBB3	100.00	1	NM_001982.4
  ERBB4	100.00	1	NM_005235.3
  ETFA	100.00	1	NM_000126.4
  ETFB	100.00	1	NM_001985.3
  ETFDH	100.00	1	NM_004453.4
  EXOSC3	100.00	1	NM_016042.4
  EXOSC8	100.00	1	NM_181503.3
  FASTKD2	100.00	1	NM_001136193.2
  FBN2	100.00	1	NM_001999.4
  FBXL4	100.00	1	NM_001278716.2
  FBXO38	100.00	1	NM_205836.3
  FDX2	100.00	1	NM_001031734.4
  FHL1	100.00	1	NM_001159699.2
  FIG4	100.00	1	NM_014845.6
  FKRP	100.00	1	NM_024301.5
  FKTN	100.00	1	NM_006731.2
  FLAD1	100.00	1	NM_025207.5
  FLNC	100.00	1	NM_001458.4
  FOXRED1	100.00	1	NM_017547.4
  FUS	100.00	1	NM_004960.4
  FXR1	100.00	1	NM_005087.4
  GAA	100.00	1	NM_000152.5
  GABRA3	100.00	1	NM_000808.4
  GARS1	100.00	1	NM_002047.4
  GBE1	100.00	1	NM_000158.4
  GFER	100.00	1	NM_005262.3
  GFPT1	100.00	1	NM_001244710.2
  GLE1	100.00	1	NM_001003722.2
  GLI3	100.00	1	NM_000168.6
  GMPPB	100.00	1	NM_021971.4
  GNE	100.00	1	NM_005476.7
  GOLGA2	100.00	1	XM_005251932.1
  GYG1	100.00	1	NM_004130.4
  GYS1	100.00	1	NM_002103.5
  HACD1	100.00	1	NM_014241.4
  HADHA	100.00	1	NM_000182.5
  HADHB	100.00	1	NM_000183.3
  HEXB	100.00	1	NM_000521.4
  HNRNPA1	100.00	1	NM_031157.4
  HNRNPA2B1	100.00	1	NM_031243.3
  HNRNPDL	100.00	1	NM_031372.3
  HRAS	100.00	1	NM_005343.4
  HSPB3	100.00	1	NM_006308.3
  HSPB8	100.00	1	NM_014365.3
  HSPG2	100.00	1	NM_005529.7
  IBA57	100.00	1	NM_001010867.4
  IGHMBP2	100.00	1	NM_002180.3
  INPP5K	100.00	1	NM_016532.4
  ISCU	100.00	1	NM_213595.3
  ITGA7	100.00	1	NM_002206.3
  KBTBD13	100.00	1	NM_001101362.2
  KCNA1	100.00	1	NM_000217.3
  KCNH2	100.00	1	NM_000238.4
  KCNJ18	100.00	1	NM_001194958.2
  KCNJ2	100.00	1	NM_000891.3
  KCNQ1	100.00	1	NM_000218.3
  KIF5A	100.00	1	NM_004984.4
  KLHL40	100.00	1	NM_152393.4
  KLHL41	100.00	1	NM_006063.3
  KLHL9	100.00	1	NM_018847.4
  KY	100.00	1	NM_178554.6
  LAMA2	100.00	1	NM_000426.3
  LAMA5	100.00	1	NM_005560.6
  LAMB2	100.00	1	NM_002292.4
  LAMP2	100.00	1	NM_002294.3
  LARGE1	100.00	1	NM_004737.6
  LDB3	98.00	1	NM_001171610.2
  LDHA	100.00	1	NM_005566.4
  LGI4	100.00	1	NM_139284.3
  LIMS2	100.00	1	NM_017980.4
  LMNA	100.00	1	NM_170707.4
  LMOD3	100.00	1	NM_198271.5
  LPIN1	100.00	1	NM_001349206.2
  LRP4	100.00	1	NM_002334.4
  LRPPRC	100.00	1	NM_133259.4
  MAP3K20	100.00	1	NM_016653.3
  MATR3	100.00	1	NM_018834.6
  MCCC1	100.00	1	NM_020166.5
  MCCC2	100.00	1	NM_022132.5
  MEGF10	100.00	1	NM_001256545.2
  MGME1	100.00	1	NM_052865.4
  MPV17	100.00	1	NM_002437.5
  MSTN	100.00	1	NM_005259.3
  MTM1	100.00	1	NM_000252.3
  MTMR14	100.00	1	NM_001077525.3
  MUSK	100.00	1	NM_005592.4
  MYBPC1	100.00	1	NM_002465.4
  MYBPC3	100.00	1	NM_000256.3
  MYH2	100.00	1	NM_017534.6
  MYH3	100.00	1	NM_002470.4
  MYH7	100.00	1	NM_000257.4
  MYH8	100.00	1	NM_002472.3
  MYL1	100.00	1	NM_079420.3
  MYMK	100.00	1	NM_001080483.3
  MYO18B	100.00	1	NM_032608.7
  MYO9A	100.00	1	NM_006901.4
  MYOT	100.00	1	NM_006790.3
  MYPN	100.00	1	NM_032578.3
  NDUFA1	100.00	1	NM_004541.4
  NDUFA10	100.00	1	NM_004544.4
  NDUFA11	100.00	1	NM_175614.5
  NDUFA12	100.00	1	NM_018838.5
  NDUFA2	100.00	1	NM_002488.5
  NDUFA3	100.00	1	NM_004542.4
  NDUFA9	100.00	1	NM_005002.5
  NDUFAF1	100.00	1	NM_016013.4
  NDUFAF2	100.00	1	NM_174889.5
  NDUFAF5	100.00	1	NM_024120.5
  NDUFAF6	100.00	1	NM_152416.4
  NDUFS1	100.00	1	NM_005006.7
  NDUFS2	100.00	1	NM_004550.4
  NDUFS3	100.00	1	NM_004551.3
  NDUFS4	100.00	1	NM_002495.4
  NDUFS7	100.00	1	NM_024407.5
  NDUFS8	100.00	1	NM_002496.4
  NDUFV1	100.00	1	NM_007103.4
  NDUFV2	100.00	1	NM_021074.5
  NEB	88.00	1	NM_001271208.2
  NEFH	100.00	1	NM_021076.4
  NUBPL	100.00	1	NM_025152.3
  OPTN	100.00	1	NM_001008212.2
  ORAI1	100.00	1	NM_032790.3
  PABPN1	100.00	1	NM_004643.3
  PET100	100.00	1	NM_001171155.2
  PFKM	100.00	1	NM_000289.6
  PFN1	100.00	1	NM_005022.4
  PGAM2	100.00	1	NM_000290.4
  PGK1	100.00	1	NM_000291.4
  PGM1	100.00	1	NM_002633.3
  PHKA1	100.00	1	NM_002637.4
  PHKB	100.00	1	NM_000293.3
  PHKG1	100.00	1	NM_001258459.1
  PIEZO2	100.00	1	NM_022068.3
  PIP5K1C	100.00	1	NM_012398.3
  PLEC	100.00	1	NM_201380.4
  PLEKHG5	100.00	1	NM_001265592.1
  PNPLA2	100.00	1	NM_020376.4
  PNPLA8	100.00	1	NM_001256007.3
  POGLUT1	100.00	1	NM_152305.3
  POLG	100.00	1	NM_001126131.2
  POLG2	100.00	1	NM_007215.4
  POMGNT1	100.00	1	NM_001243766.1
  POMGNT2	100.00	1	NM_032806.6
  POMK	100.00	1	NM_032237.5
  POMT1	100.00	1	NM_001077365.2
  POMT2	100.00	1	NM_013382.5
  PREPL	100.00	1	NM_001171613.2
  PRKAG2	100.00	1	NM_016203.4
  PRPH	100.00	1	NM_006262.4
  PUS1	100.00	1	NM_025215.6
  PYGM	100.00	1	NM_005609.4
  PYROXD1	100.00	1	NM_024854.5
  RAPSN	100.00	1	NM_005055.5
  RBCK1	100.00	1	NM_031229.4
  RBM7	100.00	1	NM_001286045.1
  REEP1	100.00	1	NM_001371279.1
  RNASEH1	100.00	1	NM_002936.5
  RRM2B	100.00	1	NM_015713.5
  RXYLT1	100.00	1	NM_014254.3
  RYR1	100.00	1	NM_000540.3
  SCN4A	100.00	1	NM_000334.4
  SCO1	100.00	1	NM_004589.4
  SCO2	100.00	1	NM_005138.3
  SELENON	90.00	1	NM_020451.3
  SETX	100.00	1	NM_015046.7
  SGCA	100.00	1	NM_000023.4
  SGCB	100.00	1	NM_000232.5
  SGCD	100.00	1	XM_017009724.1
  SGCG	100.00	1	NM_000231.2
  SIGMAR1	100.00	1	NM_005866.4
  SIL1	100.00	1	NM_022464.5
  SLC18A3	100.00	1	NM_003055.3
  SLC22A5	100.00	1	NM_003060.4
  SLC25A20	100.00	1	NM_000387.6
  SLC25A4	100.00	1	NM_001151.4
  SLC52A2	100.00	1	NM_001363118.2
  SLC52A3	100.00	1	NM_033409.4
  SLC5A7	100.00	1	NM_021815.5
  SMCHD1	100.00	1	NM_015295.3
  SMN1	6.00	0	NM_000344.3+(exon 1 à 7 non couvert)
  SNAP25	100.00	1	NM_130811.4
  SOD1	100.00	1	NM_000454.5
  SPEG	100.00	1	NM_005876.5
  SPG11	100.00	1	NM_025137.4
  SPG7	100.00	1	NM_003119.4
  SPTBN4	100.00	1	NM_020971.3
  SQSTM1	100.00	1	NM_003900.5
  STAC3	100.00	1	NM_145064.3
  STIM1	100.00	1	NM_001277961.1
  SUCLA2	100.00	1	NM_003850.2
  SUCLG1	100.00	1	NM_003849.4
  SURF1	100.00	1	NM_003172.4
  SYNE1	100.00	1	NM_182961.4
  SYNE2	100.00	1	NM_182914.2
  SYT2	100.00	1	NM_177402.5
  TACO1	100.00	1	NM_016360.4
  TANGO2	100.00	1	NM_152906.7
  TARDBP	100.00	1	NM_007375.4
  TARS2	100.00	1	NM_025150.5
  TAFAZZIN	100.00	1	NM_000116.5
  TCAP	100.00	1	NM_003673.4
  TIA1	100.00	1	NM_022173.4
  TK2	100.00	1	NM_004614.5
  TMEM43	100.00	1	NM_024334.3
  TNNI2	100.00	1	NM_003282.4
  TNNT1	100.00	1	NM_003283.6
  TNNT3	100.00	1	NM_006757.4
  TNPO3	100.00	1	NM_012470.3
  TOP3A	100.00	1	NM_004618.5
  TOR1AIP1	100.00	1	NM_001267578.1
  TPM2	100.00	1	NM_003289.4
  TPM3	100.00	1	NM_152263.4
  TRAPPC11	100.00	1	NM_021942.6
  TRIM32	100.00	1	NM_012210.3
  TRIM54	100.00	1	NM_187841.3
  TRIM63	100.00	1	NM_032588.3
  TRIP4	100.00	1	NM_016213.5
  TRMT5	100.00	1	NM_020810.3
  TRPV4	100.00	1	NM_021625.5
  TSFM	100.00	1	NM_005726.6
  TTN	100.00	1	NM_001267550.2
  TUBA4A	100.00	1	NM_006000.3
  TWNK	100.00	1	NM_021830.5
  TYMP	100.00	1	NM_001257989.1
  UBA1	100.00	1	NM_003334.4
  UBQLN2	100.00	1	NM_013444.3
  VAMP1	100.00	1	NM_014231.5
  VAPB	100.00	1	NM_004738.5
  VARS1	100.00	1	NM_001167734.1
  VCP	100.00	1	NM_007126.5
  VMA21	100.00	1	NM_001363810.1
  VPS33B	100.00	1	NM_018668.5
  VRK1	100.00	1	NM_003384.3
  WARS1	100.00	1	NM_004184.4
  XK	100.00	1	NM_021083.4
  YARS2	100.00	1	NM_001040436.3
  ZC4H2	100.00	1	NM_018684.4

• Myopathy (genepanel) - UZA
  Details

  Gene	% of coding sequence sufficiently covered to detect heterozygous mutations	Copy number variation	Comments
  ABHD5	99.64	1
  ACAD9	99.97	1
  ACADM	99.64	1
  ACADS	100.00	1
  ACADVL	99.94	1
  ACTA1	99.99	1
  ACTN2	99.96	1
  ADSS1	99.99	1
  AGK	99.98	1
  AGL	99.92	1
  AGRN	99.83	1
  ALDOA	100.00	1
  ALG14	99.97	1
  ALG2	99.95	1
  ANO5	99.96	1
  ANXA11	99.88	1
  ASCC1	91.38	1
  ATP1A2	99.96	1
  ATP2A1	99.97	1
  B3GALNT2	94.03	1
  B4GAT1	99.95	1
  BAG3	100.00	1
  BIN1	100.00	1
  BVES	99.97	1
  CACNA1S	99.92	1
  CAP2	99.97	1
  CAPN3	99.98	1
  CASQ1	99.91	1
  CAV3	99.85	1
  CAVIN1	99.99	1
  CFL2	99.81	1
  CHAT	99.77	1
  CHD7	99.96	1
  CHKB	99.89	1
  CHRNA1	99.96	1
  CHRNB1	99.99	1
  CHRND	100.00	1
  CHRNE	99.95	1
  CHRNG	99.87	1
  CLCN1	99.97	1
  CNBP	99.97	1
  COL12A1	99.95	1
  COL13A1	99.56	1
  COL25A1	99.96	1
  COL6A1	100.00	1
  COL6A2	99.96	1
  COL6A3	99.99	1
  COLQ	99.97	1
  COX6A2	98.51	1
  CPT2	99.99	1
  CRPPA	99.59	1
  CRYAB	99.98	1
  DAG1	100.00	1
  DCST2	99.92	1
  DES	100.00	1
  DGUOK	99.76	1
  DMD	99.41	1
  DMPK	99.98	1
  DNAJB6	99.91	1
  DNM2	99.96	1
  DNMT3B	99.98	1
  DOK7	99.73	1
  DPAGT1	99.96	1
  DPM2	100.00	1
  DPM3	100.00	1
  DYSF	99.99	1
  EMD	97.92	1
  ENO3	99.98	1
  ETFA	99.84	1
  ETFDH	99.76	1
  FAM111B	99.99	1
  FDX2	99.94	1
  FHL1	99.92	1
  FKRP	99.99	1
  FKTN	99.91	1
  FLAD1	100.00	1
  FLNC	99.99	1
  FXR1	99.81	1
  GAA	99.99	1
  GBE1	99.84	1
  GFER	99.96	1
  GFPT1	99.90	1
  GGPS1	99.89	1
  GMPPB	99.95	1
  GNE	99.98	1
  GYG1	99.97	1
  GYS1	99.98	1
  HACD1	99.78	1
  HADH	99.97	1
  HADHA	99.96	1
  HADHB	99.97	1
  HNRNPA1	100.00	1
  HNRNPA2B1	99.95	1
  HNRNPDL	99.92	1
  INPP5K	99.99	1
  ISCU	99.94	1
  ITGA7	99.98	1
  ITGA9	99.80	1
  JAG2	98.50	1
  KBTBD13	100.00	1
  KCNJ2	100.00	1
  KIF21A	99.80	1
  KLHL40	100.00	1
  KLHL41	99.96	1
  KLHL9	100.00	1
  KY	98.80	1
  LAMA2	99.97	1
  LAMB2	99.99	1
  LAMP2	98.98	1
  LARGE1	99.99	1
  LDB3	98.02	1
  LDHA	99.77	1
  LIMS2	99.65	1
  LMNA	99.98	1
  LMOD3	99.96	1
  LPIN1	99.97	1
  LRP4	99.98	1
  MAP3K20	99.92	1
  MATR3	99.87	1
  MB	99.99	1
  MEGF10	99.90	1
  MICU1	99.98	1
  MLIP	99.94	1
  MSTO1	98.87	1
  MTM1	99.36	1
  MUSK	99.97	1
  MYBPC1	99.90	1
  MYBPC3	99.98	1
  MYH14	99.79	1
  MYH2	99.97	1
  MYH3	99.96	1
  MYH7	100.00	1
  MYL1	99.93	1
  MYL2	99.98	1
  MYMX	100.00	1
  MYO18B	99.98	1
  MYO9A	99.91	1
  MYOD1	99.82	1
  MYOT	99.98	1
  MYPN	99.97	1
  NEB	99.77	1
  NPL	99.95	1
  OPA1	99.87	1
  ORAI1	97.73	1
  PABPN1	99.67	1
  PAX7	99.96	1
  PFKM	99.82	1
  PGAM2	100.00	1
  PGK1	99.71	1
  PGM1	99.89	1
  PHKA1	99.57	1
  PHKB	99.79	1
  PHOX2A	96.75	1
  PLEC	99.98	1
  PNPLA2	99.99	1
  PNPLA8	99.81	1
  POGLUT1	99.91	1
  POLG	99.98	1
  POLG2	99.68	1
  POMGNT1	99.98	1
  POMGNT2	100.00	1
  POMK	99.98	1
  POMT1	99.91	1
  POMT2	99.93	1
  POPDC3	99.93	1
  PREPL	99.96	1
  PRKAG2	99.92	1
  PYGM	99.98	1
  PYROXD1	99.83	1
  RAPSN	99.99	1
  RBCK1	99.99	1
  RXYLT1	99.53	1
  RYR1	99.92	1
  SCN4A	99.77	1
  SELENON	95.81	1
  SGCA	99.99	1
  SGCB	99.62	1
  SGCD	99.94	1
  SGCG	99.87	1
  SIL1	99.99	1
  SLC18A3	100.00	1
  SLC22A5	99.99	1
  SLC25A20	99.90	1
  SLC25A4	99.96	1
  SLC5A7	99.97	1
  SMCHD1	99.82	1
  SMPX	99.37	1
  SPEG	99.97	1
  SQSTM1	100.00	1
  STAC3	99.94	1
  STIM1	99.97	1
  SVIL	99.94	1
  SYNE1	99.96	1
  SYNE2	99.85	1
  SYT2	99.89	1
  TCAP	100.00	1
  TIA1	99.56	1
  TK2	99.99	1
  TMEM126B	99.68	1
  TMEM43	99.98	1
  TNNC2	99.95	1
  TNNI2	100.00	1
  TNNT1	99.82	1
  TNNT3	100.00	1
  TNPO3	99.95	1
  TNXB	99.95	1
  TOP3A	99.95	1
  TOR1AIP1	99.84	1
  TPI1	99.95	1
  TPM2	99.93	1
  TPM3	99.95	1
  TRAPPC11	99.59	1
  TRDN	99.03	1
  TRIM32	100.00	1
  TRIP4	99.91	1
  TRMT5	99.83	1
  TTN	99.96	1
  TUBB3	100.00	1
  TWNK	100.00	1
  UNC45B	99.93	1
  VAMP1	99.70	1
  VCP	99.92	1
  VMA21	97.04	1
  VWA1	91.35	1

• Neuromuscular disorders (548 genes) - ULB
  Details

  Gene	% of coding sequence sufficiently covered to detect heterozygous mutations	Copy number variation	Comments
  AARS1	100.00	0	No comment
  ABCD1	97.56	0	No comment
  ABHD12	88.30	0	No comment
  ABHD5	99.85	0	No comment
  ACAD9	100.00	0	No comment
  ACADL	98.57	0	No comment
  ACADM	99.87	0	No comment
  ACADS	97.51	0	No comment
  ACADVL	98.04	0	No comment
  ACTA1	99.79	0	No comment
  ACVR1	100.00	0	No comment
  ADAR	100.00	0	No comment
  ADSS1	99.98	0	No comment
  AFG3L2	94.80	0	No comment
  AGK	100.00	0	No comment
  AGL	100.00	0	No comment
  AGRN	96.53	0	No comment
  AIFM1	99.98	0	No comment
  AIMP1	99.97	0	No comment
  ALDH18A1	100.00	0	No comment
  ALDH3A2	99.94	0	No comment
  ALDOA	100.00	0	No comment
  ALG13	99.53	0	No comment
  ALG14	100.00	0	No comment
  ALG2	99.83	0	No comment
  ALS2	100.00	0	No comment
  AMPD1	100.00	0	No comment
  AMPD2	99.90	0	No comment
  ANG	100.00	0	No comment
  ANO5	100.00	0	No comment
  ANXA11	99.99	0	No comment
  AP4B1	100.00	0	No comment
  AP4E1	99.99	0	No comment
  AP4M1	100.00	0	No comment
  AP4S1	100.00	0	No comment
  AP5Z1	99.25	0	No comment
  APTX	99.96	0	No comment
  AR	100.00	0	No comment
  ARG1	100.00	0	No comment
  ARHGEF10	99.98	0	No comment
  ARHGEF28	99.05	0	No comment
  ARL6IP1	100.00	0	No comment
  ARSI	99.82	0	No comment
  ASAH1	100.00	0	No comment
  ASCC1	91.30	0	No comment
  ATL1	99.89	0	No comment
  ATL3	99.93	0	No comment
  ATM	100.00	0	No comment
  ATP13A2	98.30	0	No comment
  ATP1A1	100.00	0	No comment
  ATP2A1	100.00	0	No comment
  ATP7A	100.00	0	No comment
  ATXN2	93.25	0	No comment
  AUH	99.24	0	No comment
  B3GALNT2	92.96	0	No comment
  B4GAT1	99.99	0	No comment
  B4GALNT1	99.99	0	No comment
  BAG3	100.00	0	No comment
  BCS1L	100.00	0	No comment
  BICD2	100.00	0	No comment
  BIN1	99.94	0	No comment
  BSCL2	100.00	0	No comment
  BVES	100.00	0	No comment
  TWNK	100.00	0	No comment
  MTRFR	100.00	0	No comment
  C19ORF12	100.00	0	No comment
  C1QBP	99.47	0	No comment
  C9ORF72	99.96	0	No comment
  CACNA1A	99.53	0	No comment
  CACNA1S	100.00	0	No comment
  CAPN1	99.97	0	No comment
  CAPN3	99.99	0	No comment
  CASQ1	100.00	0	No comment
  CAV3	100.00	0	No comment
  CCDC78	100.00	0	No comment
  CCT5	99.92	0	No comment
  CFL2	100.00	0	No comment
  CHAT	99.97	0	No comment
  CHCHD10	99.66	0	No comment
  CHKB	99.75	0	No comment
  CHMP2B	100.00	0	No comment
  CHRNA1	99.99	0	No comment
  CHRNB1	99.95	0	No comment
  CHRND	100.00	0	No comment
  CHRNE	100.00	0	No comment
  CHRNG	99.87	0	No comment
  CHST14	99.50	0	No comment
  CLCN1	100.00	0	No comment
  CLN3	100.00	0	No comment
  CLN8	100.00	0	No comment
  CLTCL1	99.04	0	No comment
  CNBP	100.00	0	No comment
  CNTN1	100.00	0	No comment
  CNTNAP1	100.00	0	No comment
  COL12A1	100.00	0	No comment
  COL13A1	99.52	0	No comment
  COL6A1	99.90	0	No comment
  COL6A2	99.98	0	No comment
  COL6A3	100.00	0	No comment
  COLQ	100.00	0	No comment
  COQ9	100.00	0	No comment
  COX10	100.00	0	No comment
  COX15	99.99	0	No comment
  COX20	100.00	0	No comment
  COX6A1	100.00	0	No comment
  COX6B1	100.00	0	No comment
  COX8A	100.00	0	No comment
  CPT1C	100.00	0	No comment
  CPT2	98.55	0	No comment
  CRYAB	100.00	0	No comment
  CSF1R	99.99	0	No comment
  CTDP1	100.00	0	No comment
  CYP27A1	99.38	0	No comment
  CYP2U1	93.20	0	No comment
  CYP7B1	95.41	0	No comment
  DAG1	100.00	0	No comment
  DARS2	100.00	0	No comment
  DCAF8	100.00	0	No comment
  DCTN1	100.00	0	No comment
  DDHD1	99.58	0	No comment
  DDHD2	100.00	0	No comment
  DES	100.00	0	No comment
  DGAT2	100.00	0	No comment
  DGUOK	100.00	0	No comment
  DHTKD1	99.54	0	No comment
  DMD	99.96	0	No comment
  DMPK	99.91	0	No comment
  DMXL2	100.00	0	No comment
  DNAJB2	100.00	0	No comment
  DNAJB6	91.94	0	No comment
  DNM2	99.84	0	No comment
  DNMT1	99.54	0	No comment
  DOK7	97.44	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
  DST	100.00	0	No comment
  DYNC1H1	99.92	0	No comment
  DYSF	99.72	0	No comment
  ECEL1	99.80	0	No comment
  EGR2	100.00	0	No comment
  ELOVL4	100.00	0	No comment
  EMD	98.97	0	No comment
  ENO3	100.00	0	No comment
  ENTPD1	100.00	0	No comment
  ERBB3	100.00	0	No comment
  ERBB4	100.00	0	No comment
  ERCC2	98.91	0	No comment
  ERLIN1	100.00	0	No comment
  ERLIN2	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
  EXOSC8	100.00	0	No comment
  FA2H	95.71	0	No comment
  FAM111B	100.00	0	No comment
  HYCC1	100.00	0	No comment
  RETREG1	93.72	0	No comment
  FARS2	100.00	0	No comment
  FASTKD2	100.00	0	No comment
  FBLN5	100.00	0	No comment
  FBN2	100.00	0	No comment
  FBXL4	100.00	0	No comment
  FBXO38	100.00	0	No comment
  FBXO7	99.78	0	No comment
  FDX2	100.00	0	No comment
  FGD4	99.98	0	No comment
  CFH	100.00	0	No comment
  FIG4	100.00	0	No comment
  FKRP	100.00	0	No comment
  FKTN	100.00	0	No comment
  FLAD1	100.00	0	No comment
  FLNC	100.00	0	No comment
  FLRT1	100.00	0	No comment
  FLVCR1	100.00	0	No comment
  FOXRED1	100.00	0	No comment
  FUS	100.00	0	No comment
  FXN	94.27	0	No comment
  GAA	100.00	0	No comment
  GABRA3	99.59	0	No comment
  GAD1	100.00	0	No comment
  GALC	98.98	0	No comment
  GAN	98.52	0	No comment
  GARS1	97.89	0	No comment
  GART	99.99	0	No comment
  GBA1	100.00	0	No comment
  GBA2	100.00	0	No comment
  GBE1	100.00	0	No comment
  GCH1	99.71	0	No comment
  GDAP1	100.00	0	No comment
  GFAP	100.00	0	No comment
  GFER	99.09	0	No comment
  GFPT1	99.94	0	No comment
  GGPS1	100.00	0	No comment
  GJB1	100.00	0	No comment
  GJB3	100.00	0	No comment
  GJC2	96.72	0	No comment
  GLA	100.00	0	No comment
  GLB1	100.00	0	No comment
  GLE1	100.00	0	No comment
  GLI3	100.00	0	No comment
  GLTP	100.00	0	No comment
  GMPPB	100.00	0	No comment
  GNB4	100.00	0	No comment
  GNE	100.00	0	No comment
  GOLGA2	95.41	0	No comment
  GOSR2	100.00	0	No comment
  GSN	97.80	0	No comment
  GYG1	94.40	0	No comment
  GYS1	100.00	0	No comment
  HADHA	100.00	0	No comment
  HADHB	100.00	0	No comment
  HARS1	99.73	0	No comment
  HEPACAM	99.85	0	No comment
  HEXA	100.00	0	No comment
  HEXB	99.19	0	No comment
  HINT1	100.00	0	No comment
  HK1	100.00	0	No comment
  HNRNPA1	97.19	0	No comment
  HNRNPA2B1	100.00	0	No comment
  HNRNPDL	99.98	0	No comment
  HOXD10	100.00	0	No comment
  HRAS	100.00	0	No comment
  HSD17B4	100.00	0	No comment
  HSPB1	100.00	0	No comment
  HSPB3	100.00	0	No comment
  HSPB8	100.00	0	No comment
  HSPD1	95.18	0	No comment
  HSPG2	99.19	0	No comment
  IBA57	92.01	0	No comment
  IFIH1	100.00	0	No comment
  IFRD1	98.86	0	No comment
  IGHMBP2	99.38	0	No comment
  ELP1	100.00	0	No comment
  INF2	99.92	0	No comment
  INPP5K	99.31	0	No comment
  ISCU	98.41	0	No comment
  CRPPA	95.50	0	No comment
  ITGA7	100.00	0	No comment
  KARS1	100.00	0	No comment
  KBTBD13	99.16	0	No comment
  KCNA1	100.00	0	No comment
  KCNE1	100.00	0	No comment
  KCNE2	100.00	0	No comment
  KCNE3	100.00	0	No comment
  KCNH2	98.15	0	No comment
  KCNJ12	100.00	0	No comment
  KCNJ2	100.00	0	No comment
  KCNQ1	100.00	0	No comment
  WASHC5	100.00	0	No comment
  KIF1A	98.74	0	No comment
  KIF1B	99.84	0	No comment
  KIF1C	100.00	0	No comment
  KIF21A	98.54	0	No comment
  KIF5A	100.00	0	No comment
  KLC4	99.99	0	No comment
  KLHL40	100.00	0	No comment
  KLHL41	100.00	0	No comment
  KLHL9	100.00	0	No comment
  KY	100.00	0	No comment
  L1CAM	99.98	0	No comment
  LAMA2	100.00	0	No comment
  LAMA5	98.39	0	No comment
  LAMB2	100.00	0	No comment
  LAMP2	99.60	0	No comment
  LARGE1	100.00	0	No comment
  LDB3	100.00	0	No comment
  LDHA	99.42	0	No comment
  LGI4	100.00	0	No comment
  LIMS2	91.30	0	No comment
  LITAF	100.00	0	No comment
  LMNA	99.28	0	No comment
  LMOD3	100.00	0	No comment
  LPIN1	99.97	0	No comment
  CORIN	99.01	0	No comment
  LRPPRC	98.80	0	No comment
  LRSAM1	99.33	0	No comment
  MARS1	100.00	0	No comment
  MATR3	100.00	0	No comment
  MB	100.00	0	No comment
  MED25	100.00	0	No comment
  MEGF10	99.99	0	No comment
  MFN2	100.00	0	No comment
  MLC1	98.57	0	No comment
  MAP3K20	100.00	0	No comment
  MARS2	100.00	0	No comment
  MME	100.00	0	No comment
  MORC2	100.00	0	No comment
  MPV17	100.00	0	No comment
  MPZ	99.80	0	No comment
  MSTN	100.00	0	No comment
  MTM1	99.91	0	No comment
  MTMR14	99.92	0	No comment
  MTMR2	99.55	0	No comment
  MTPAP	99.98	0	No comment
  MUSK	100.00	0	No comment
  MYBPC1	100.00	0	No comment
  MYBPC3	100.00	0	No comment
  MYH7B	99.85	0	No comment
  MYH2	100.00	0	No comment
  MYH3	100.00	0	No comment
  MYH4	100.00	0	No comment
  MYH7	100.00	0	No comment
  MYH8	100.00	0	No comment
  MYL1	100.00	0	No comment
  MYO18B	99.80	0	No comment
  MYO9A	99.74	0	No comment
  MYOT	100.00	0	No comment
  MYPN	99.97	0	No comment
  NAGLU	96.69	0	No comment
  NDRG1	100.00	0	No comment
  NDUFA1	100.00	0	No comment
  NDUFA10	96.45	0	No comment
  NDUFA11	100.00	0	No comment
  NDUFA12	100.00	0	No comment
  NDUFA2	100.00	0	No comment
  NDUFA3	100.00	0	No comment
  NDUFA9	100.00	0	No comment
  NDUFAF1	100.00	0	No comment
  NDUFAF2	100.00	0	No comment
  NDUFAF5	99.96	0	No comment
  NDUFAF6	95.61	0	No comment
  NDUFS1	100.00	0	No comment
  NDUFS2	100.00	0	No comment
  NDUFS3	100.00	0	No comment
  NDUFS4	99.96	0	No comment
  NDUFS7	93.34	0	No comment
  NDUFS8	100.00	0	No comment
  NDUFV1	99.62	0	No comment
  NDUFV2	100.00	0	No comment
  NEB	100.00	0	No comment
  NEFH	81.41	0	No comment
  NEFL	100.00	0	No comment
  NEK1	99.98	0	No comment
  NGF	100.00	0	No comment
  NIPA1	92.99	0	No comment
  NT5C2	100.00	0	No comment
  NTRK1	98.36	0	No comment
  NUBPL	99.92	0	No comment
  MED12	99.98	0	No comment
  OPA3	100.00	0	No comment
  OPTN	100.00	0	No comment
  ORAI1	92.14	0	No comment
  P4HA1	100.00	0	No comment
  PABPN1	100.00	0	No comment
  PANK2	100.00	0	No comment
  PDHA1	92.64	0	No comment
  PDK3	97.80	0	No comment
  PDYN	100.00	0	No comment
  PET100	100.00	0	No comment
  PEX1	100.00	0	No comment
  PEX7	95.60	0	No comment
  PFKM	100.00	0	No comment
  PFN1	100.00	0	No comment
  PGAM2	99.97	0	No comment
  PGAP1	100.00	0	No comment
  PGK1	99.88	0	No comment
  PGM1	100.00	0	No comment
  PHKA1	99.99	0	No comment
  PHKB	99.97	0	No comment
  PHOX2A	96.24	0	No comment
  PHYH	99.81	0	No comment
  PIEZO2	100.00	0	No comment
  PIP5K1C	94.98	0	No comment
  PLA2G6	100.00	0	No comment
  PLEC	99.26	0	No comment
  PLEKHG5	100.00	0	No comment
  PLP1	100.00	0	No comment
  PMP2	100.00	0	No comment
  PMP22	100.00	0	No comment
  PNKP	99.84	0	No comment
  PNPLA2	98.21	0	No comment
  PNPLA6	99.95	0	No comment
  PNPLA8	100.00	0	No comment
  POGLUT1	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
  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	99.53	0	No comment
  PPP2R2B	100.00	0	No comment
  PRDM12	81.28	0	No comment
  PREPL	99.98	0	No comment
  PRKAG2	95.75	0	No comment
  PRNP	99.92	0	No comment
  PRPH	99.62	0	No comment
  PRPS1	99.91	0	No comment
  PRUNE1	100.00	0	No comment
  PRX	99.89	0	No comment
  PSEN1	100.00	0	No comment
  HACD1	94.60	0	No comment
  CAVIN1	100.00	0	No comment
  PTRH2	99.91	0	No comment
  PUS1	100.00	0	No comment
  PYGM	100.00	0	No comment
  PYROXD1	99.99	0	No comment
  RAB3GAP2	100.00	0	No comment
  RAB7A	100.00	0	No comment
  RAPSN	100.00	0	No comment
  RBCK1	99.76	0	No comment
  RBM7	100.00	0	No comment
  REEP1	100.00	0	No comment
  REEP2	97.04	0	No comment
  RNASEH2B	94.58	0	No comment
  RNASET2	100.00	0	No comment
  RRM2B	100.00	0	No comment
  RTN2	99.44	0	No comment
  RYR1	99.39	0	No comment
  RYR3	100.00	0	No comment
  SACS	99.95	0	No comment
  SBF1	98.38	0	No comment
  SBF2	99.92	0	No comment
  SCN10A	100.00	0	No comment
  SCN11A	99.98	0	No comment
  SCN4A	100.00	0	No comment
  SCN5A	100.00	0	No comment
  SCN9A	99.99	0	No comment
  SCO1	100.00	0	No comment
  SCO2	93.85	0	No comment
  SELENON	84.10	0	No comment
  SEPTIN9	99.38	0	No comment
  SETX	100.00	0	No comment
  SGCA	100.00	0	No comment
  SGCB	91.50	0	No comment
  SGCD	100.00	0	No comment
  SGCE	93.30	0	No comment
  SGCG	100.00	0	No comment
  SGPL1	100.00	0	No comment
  SH3TC2	100.00	0	No comment
  SIGMAR1	92.51	0	No comment
  SIL1	99.95	0	No comment
  SLC12A6	100.00	0	No comment
  SLC16A1	100.00	0	No comment
  SLC16A2	99.97	0	No comment
  SLC18A3	100.00	0	No comment
  SLC22A5	100.00	0	No comment
  SLC25A15	100.00	0	No comment
  SLC25A20	100.00	0	No comment
  SLC25A4	99.81	0	No comment
  SLC25A42	99.60	0	No comment
  SLC25A46	100.00	0	No comment
  SLC2A1	100.00	0	No comment
  SLC33A1	100.00	0	No comment
  SLC52A2	100.00	0	No comment
  SLC52A3	99.86	0	No comment
  SLC5A7	100.00	0	No comment
  SMCHD1	100.00	0	No comment
  SMN1	100.00	0	No comment
  SNAP25	100.00	0	No comment
  SOD1	100.00	0	No comment
  SOX10	95.36	0	No comment
  SPAST	99.83	0	No comment
  SPEG	98.78	0	No comment
  SPG11	100.00	0	No comment
  SPART	100.00	0	No comment
  SPG21	100.00	0	No comment
  SPG7	95.78	0	No comment
  SPR	99.98	0	No comment
  SPTBN4	98.07	0	No comment
  SPTLC1	99.27	0	No comment
  SPTLC2	96.43	0	No comment
  SQSTM1	94.05	0	No comment
  SRPK3	98.13	0	No comment
  STAC3	100.00	0	No comment
  STIM1	100.00	0	No comment
  SUCLA2	99.86	0	No comment
  SUCLG1	93.27	0	No comment
  SUN1	100.00	0	No comment
  SURF1	100.00	0	No comment
  SYNE1	100.00	0	No comment
  SYNE2	100.00	0	No comment
  SYT2	99.96	0	No comment
  TACO1	99.66	0	No comment
  TANGO2	99.94	0	No comment
  TARDBP	100.00	0	No comment
  TARS2	100.00	0	No comment
  WWTR1	97.30	0	No comment
  TBCE	100.00	0	No comment
  TBK1	99.99	0	No comment
  TCAP	100.00	0	No comment
  TDP1	100.00	0	No comment
  TECPR2	99.92	0	No comment
  TFG	99.98	0	No comment
  TGM6	100.00	0	No comment
  TH	98.79	0	No comment
  TIA1	100.00	0	No comment
  TK2	100.00	0	No comment
  TMEM43	100.00	0	No comment
  RXYLT1	100.00	0	No comment
  TMEM65	90.50	0	No comment
  MYMK	100.00	0	No comment
  TNNI2	100.00	0	No comment
  TNNT1	94.05	0	No comment
  TNNT3	100.00	0	No comment
  TNPO3	100.00	0	No comment
  TOR1A	99.70	0	No comment
  TOR1AIP1	100.00	0	No comment
  TPI1	99.90	0	No comment
  TPM2	100.00	0	No comment
  TPM3	98.74	0	No comment
  TRAPPC11	99.97	0	No comment
  TRIM2	100.00	0	No comment
  TRIM32	100.00	0	No comment
  TRIM54	96.63	0	No comment
  TRIM63	100.00	0	No comment
  TRIP4	100.00	0	No comment
  TRMT5	100.00	0	No comment
  TRPV4	100.00	0	No comment
  TSFM	86.80	0	No comment
  TTBK2	100.00	0	No comment
  TTN	100.00	0	No comment
  TTR	100.00	0	No comment
  TUBA4A	100.00	0	No comment
  TUBB3	99.01	0	No comment
  TUBB4A	100.00	0	No comment
  TYMP	100.00	0	No comment
  UBA1	100.00	0	No comment
  UBQLN2	99.30	0	No comment
  UNC13A	99.74	0	No comment
  USP8	100.00	0	No comment
  VAMP1	100.00	0	No comment
  VAPB	99.77	0	No comment
  VARS2	100.00	0	No comment
  VCP	97.10	0	No comment
  VMA21	77.99	0	No comment
  VPS33B	100.00	0	No comment
  VPS37A	99.28	0	No comment
  VRK1	100.00	0	No comment
  WARS1	100.00	0	No comment
  WDR45	100.00	0	No comment
  WDR48	100.00	0	No comment
  WNK1	100.00	0	No comment
  XK	99.44	0	No comment
  YARS1	100.00	0	No comment
  YARS2	100.00	0	No comment
  ZC4H2	100.00	0	No comment
  ZFHX2	100.00	0	No comment
  ZFR	100.00	0	No comment
  ZFYVE26	100.00	0	No comment
  ZFYVE27	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

• Neuromuscular disorders (232 genes) - KUL
  Details

  Gene	% of coding sequence sufficiently covered to detect heterozygous mutations	Copy number variation	Comments
  NEB	88.70	0	NM_001271208.1
  SELENON	92.30	0	NM_020451.2
  TSEN54	97.70	0	NM_207346.2
  DOK7	97.90	0	NM_173660.4
  ORAI1	97.90	0	NM_032790.3
  CRPPA	98.60	0	NM_001101426.3
  PGAM2	98.80	0	NM_000290.3
  AGRN	99.00	0	NM_198576.3
  HSPB1	99.00	0	NM_001540.4
  POMT2	99.00	0	NM_013382.5
  CACNA1H	99.10	0	NM_021098.2
  RYR1	99.10	0	NM_000540.2
  SPTBN4	99.30	0	NM_020971.2
  TNNT1	99.50	0	NM_003283.5
  HSPG2	99.50	0	NM_005529.6
  CAPN3	99.60	0	NM_000070.2
  GMPPB	99.60	0	NM_013334.3
  ACADVL	99.60	0	NM_000018.3
  LAMA5	99.60	0	NM_005560.4
  B3GALNT2	99.70	0	NM_152490.4
  SCN4A	99.70	0	NM_000334.4
  ISCU	99.70	0	NM_213595.3
  MATR3	99.70	0	NM_199189.2
  SLC16A1	99.80	0	NM_003051.3
  COL6A1	99.80	0	NM_001848.2
  CHD8	99.80	0	NM_001170629.1
  RAPSN	99.80	0	NM_005055.4
  CACNA1A	99.80	0	NM_001127221.1
  MYH7B	99.80	0	NM_024729.3
  DCST2	99.80	0	NM_144622.2
  CHRNE	99.80	0	NM_000080.3
  SGCG	99.90	0	NM_000231.2
  DYSF	99.90	0	NM_003494.3
  MYL2	99.90	0	NM_000432.3
  CHRNA1	99.90	0	NM_000079.3
  ECEL1	99.90	0	NM_004826.3
  PNPLA2	99.90	0	NM_020376.3
  FXR1	99.90	0	NM_005087.3
  TTN	99.90	0	NM_133378.4
  PNPLA8	99.90	0	NM_015723.4
  ATP2A1	99.90	0	NM_173201.3
  COL6A2	99.90	0	NM_001849.3
  MYBPC3	99.90	0	NM_000256.3
  VCP	99.90	0	NM_007126.4
  TRDN	99.90	0	NM_006073.3
  GYS1	99.90	0	NM_002103.4
  ALG13	99.90	0	NM_001099922.2
  MYO18B	99.90	0	NM_032608.6
  TK2	99.90	0	NM_004614.4
  PHKB	99.90	0	NM_000293.2
  SYT2	99.90	0	NM_177402.4
  LDHA	99.90	0	NM_005566.3
  LMNA	99.90	0	NM_170707.3
  CFL2	99.90	0	NM_021914.7
  TIA1	100.00	0	NM_022173.3
  MYF6	100.00	0	NM_002469.2
  KCNJ18	100.00	0	NM_001194958.2
  DPM1	100.00	0	NM_003859.2
  HNRNPDL	100.00	0	NM_031372.3
  TPM2	100.00	0	NM_003289.3
  CACNA1S	100.00	0	NM_000069.2
  FLNC	100.00	0	NM_001458.4
  CHRNB1	100.00	0	NM_000747.2
  CCDC78	100.00	0	NM_001031737.2
  ETFA	100.00	0	NM_000126.3
  DNAJB6	100.00	0	NM_058246.3
  DMPK	100.00	0	NM_001081563.2
  CORIN	100.00	0	NM_002334.3
  HACD1	100.00	0	NM_014241.3
  EMD	100.00	0	NM_000117.2
  TRIP4	100.00	0	NM_016213.4
  MYL1	100.00	0	NM_079420.2
  ETFDH	100.00	0	NM_004453.3
  FKRP	100.00	0	NM_024301.4
  DNA2	100.00	0	NM_001080449.2
  PLEC	100.00	0	NM_000445.4
  PABPN1	100.00	0	NM_004643.3
  SPEG	100.00	0	NM_005876.4
  ITGA7	100.00	0	NM_002206.2
  POMT1	100.00	0	NM_007171.3
  GFPT1	100.00	0	NM_002056.3
  SYNE1	100.00	0	NM_033071.3
  LPIN1	100.00	0	NM_145693.3
  ENO3	100.00	0	NM_053013.3
  GOLGA2	100.00	0	NM_004486.4
  CHKB	100.00	0	NM_005198.4
  AMPD1	100.00	0	NM_000036.2
  ACTA1	100.00	0	NM_001100.3
  ACVR1	100.00	0	NM_001105.4
  HADHB	100.00	0	NM_000183.2
  KCNA1	100.00	0	NM_000217.2
  ANO5	100.00	0	NM_213599.2
  INPP5K	100.00	0	NM_016532.3
  SMCHD1	100.00	0	NM_015295.2
  ADSS1	100.00	0	NM_199165.2
  TRIM63	100.00	0	NM_032588.3
  COL13A1	100.00	0	NM_001130103.1
  TOP3A	100.00	0	NM_004618.4
  COL12A1	100.00	0	NM_004370.5
  MYPN	100.00	0	NM_032578.3
  SYNE2	100.00	0	NM_182914.2
  ACTN2	100.00	0	NM_001103.3
  PREPL	100.00	0	NM_006036.4
  MYH3	100.00	0	NM_002470.3
  SGCB	100.00	0	NM_000232.4
  PHKA1	100.00	0	NM_002637.3
  CLCN1	100.00	0	NM_000083.2
  KBTBD13	100.00	0	NM_001101362.2
  CHAT	100.00	0	NM_020549.4
  AGL	100.00	0	NM_000642.2
  MUSK	100.00	0	NM_005592.3
  CASQ1	100.00	0	NM_001231.4
  ACADS	100.00	0	NM_000017.3
  PYGM	100.00	0	NM_005609.3
  GAA	100.00	0	NM_000152.4
  TRAPPC11	100.00	0	NM_021942.5
  MYO9A	100.00	0	NM_006901.3
  COL6A3	100.00	0	NM_004369.3
  DMD	100.00	0	NM_004006.2
  MYH7	100.00	0	NM_000257.3
  MYBPC1	100.00	0	NM_002465.3
  RYR3	100.00	0	NM_001036.4
  ABHD5	100.00	0	NM_016006.5
  ACAD9	100.00	0	NM_014049.4
  ACADL	100.00	0	NM_001608.3
  ACADM	100.00	0	NM_000016.5
  ALDOA	100.00	0	NM_000034.3
  ALG14	100.00	0	NM_144988.3
  ALG2	100.00	0	NM_033087.3
  ATP1A2	100.00	0	NM_000702.3
  B4GAT1	100.00	0	NM_006876.2
  BAG3	100.00	0	NM_004281.3
  BIN1	100.00	0	NM_139343.2
  BVES	100.00	0	NM_007073.4
  CAV3	100.00	0	NM_033337.2
  CAVIN1	100.00	0	NM_012232.5
  CHRND	100.00	0	NM_000751.2
  CHRNG	100.00	0	NM_005199.4
  CNTN1	100.00	0	NM_001843.3
  COLQ	100.00	0	NM_005677.3
  CPT2	100.00	0	NM_000098.2
  CRYAB	100.00	0	NM_001885.2
  DAG1	100.00	0	NM_004393.5
  DES	100.00	0	NM_001927.3
  DNM2	100.00	0	NM_001005360.2
  DOLK	100.00	0	NM_014908.3
  DPAGT1	100.00	0	NM_001382.3
  DPM2	100.00	0	NM_003863.3
  DPM3	100.00	0	NM_153741.1
  ETFB	100.00	0	NM_001985.2
  EXOSC3	100.00	0	NM_016042.3
  CFH	100.00	0	NM_001449.4
  FKBP14	100.00	0	NM_017946.3
  FKTN	100.00	0	NM_001079802.1
  FLAD1	100.00	0	NM_025207.4
  GBE1	100.00	0	NM_000158.3
  GGPS1	100.00	0	NM_001037277.1
  GNE	100.00	0	NM_001128227.2
  GYG1	100.00	0	NM_004130.3
  HADH	100.00	0	NM_005327.4
  HADHA	100.00	0	NM_000182.4
  HINT1	100.00	0	NM_005340.6
  HNRNPA1	100.00	0	NM_031157.3
  HNRNPA2B1	100.00	0	NM_031243.2
  HRAS	100.00	0	NM_005343.3
  HSPB8	100.00	0	NM_014365.2
  KCNE3	100.00	0	NM_005472.4
  KCNJ2	100.00	0	NM_000891.2
  KLHL40	100.00	0	NM_152393.3
  KLHL41	100.00	0	NM_006063.2
  KLHL9	100.00	0	NM_018847.3
  KY	100.00	0	NM_178554.5
  LAMA2	100.00	0	NM_000426.3
  LAMB2	100.00	0	NM_002292.3
  LAMP2	100.00	0	NM_002294.2
  LARGE1	100.00	0	NM_004737.6
  LDB3	100.00	0	NM_001080116.1
  LIMS2	100.00	0	NM_001136037.2
  LMOD3	100.00	0	NM_198271.4
  MAP3K20	100.00	0	NM_016653.2
  MB	100.00	0	NM_005368.2
  MEGF10	100.00	0	NM_032446.2
  MSTN	100.00	0	NM_005259.2
  MTM1	100.00	0	NM_000252.2
  MTMR14	100.00	0	NM_022485.4
  MYH2	100.00	0	NM_017534.5
  MYH8	100.00	0	NM_002472.2
  MYMK	100.00	0	NM_001080483.2
  MYOT	100.00	0	NM_006790.2
  MED12	100.00	0	NM_015560.2
  P4HA1	100.00	0	NM_001017962.2
  PAX7	100.00	0	NM_002584.2
  PDHA1	100.00	0	NM_000284.3
  PFKM	100.00	0	NM_000289.5
  PGK1	100.00	0	NM_000291.3
  PGM1	100.00	0	NM_002633.2
  POGLUT1	100.00	0	NM_152305.2
  POLG	100.00	0	NM_002693.2
  POLG2	100.00	0	NM_007215.3
  POMGNT1	100.00	0	NM_017739.3
  POMGNT2	100.00	0	NM_032806.5
  POMK	100.00	0	NM_032237.4
  POPDC3	100.00	0	NM_022361.4
  PRKAG2	100.00	0	NM_016203.3
  PYROXD1	100.00	0	NM_024854.4
  RBCK1	100.00	0	NM_031229.3
  RXYLT1	100.00	0	NM_014254.2
  SBDS	100.00	0	NM_016038.3
  SGCA	100.00	0	NM_000023.3
  SGCD	100.00	0	NM_000337.5
  SIL1	100.00	0	NM_022464.4
  SLC18A3	100.00	0	NM_003055.2
  SLC22A5	100.00	0	NM_003060.3
  SLC25A20	100.00	0	NM_000387.5
  SLC5A7	100.00	0	NM_021815.4
  SNAP25	100.00	0	NM_130811.3
  SQSTM1	100.00	0	NM_003900.4
  STAC3	100.00	0	NM_145064.2
  STIM1	100.00	0	NM_003156.3
  WWTR1	100.00	0	NM_000116.4
  TCAP	100.00	0	NM_003673.3
  TMEM126B	100.00	0	NM_018480.5
  TMEM43	100.00	0	NM_024334.2
  TNNI2	100.00	0	NM_003282.3
  TNNT3	100.00	0	NM_006757.3
  TNPO3	100.00	0	NM_012470.3
  TOR1AIP1	100.00	0	NM_001267578.1
  TPM3	100.00	0	NM_152263.3
  TRIM32	100.00	0	NM_012210.3
  UNC45B	100.00	0	NM_173167.3
  VAMP1	100.00	0	NM_014231.4
  VMA21	100.00	0	NM_001017980.3

• Neuromuscular disorders - UGent
  Details

  Gene	% of coding sequence sufficiently covered to detect heterozygous mutations	Copy number variation	Comments
  ABHD5	99.98	1
  ACAD9	100.00	1
  ACADL	99.11	1
  ACADM	96.14	1
  ACADS	99.99	1
  ACADVL	100.00	1
  ACTA1	99.99	1
  ACTN2	99.99	1
  ACVR1	99.94	1
  ADCY6	99.98	1
  ADGRG6	99.91	1
  ADSS1	99.99	1
  AGL	97.67	1
  AGRN	99.99	1
  ALDOA	100.00	1
  ALG13	99.44	1
  ALG14	99.34	1
  ALG2	100.00	1
  AMPD1	98.94	1
  ANO5	99.85	1
  APOO	99.69	1
  ASAH1	99.90	1
  ASCC1	90.99	1
  ASPH	99.92	1
  ATP2A1	99.83	1
  B3GALNT2	92.79	1
  B4GAT1	100.00	1
  BAG3	100.00	1
  BET1	99.38	1
  BIN1	99.98	1
  BSCL2	99.99	1
  BVES	99.83	1
  CACNA1H	100.00	1
  CACNA1S	99.96	1
  CAPN3	99.99	1
  CASQ1	99.62	1
  CAV3	100.00	1
  CAVIN1	100.00	1
  CCDC78	100.00	1
  CFL2	99.67	1
  CHAT	99.74	1
  CHCHD10	100.00	1
  CHKB	100.00	1
  CHRNA1	99.82	1
  CHRNB1	99.99	1
  CHRND	100.00	1
  CHRNE	100.00	1
  CHRNG	100.00	1
  CLCN1	100.00	1
  CLN3	99.92	1
  CLPP	99.99	1
  CNTN1	99.35	1
  COL12A1	99.85	1
  COL13A1	99.95	1
  COL4A1	99.99	1
  COL6A1	99.99	1
  COL6A2	100.00	1
  COL6A3	99.99	1
  COL9A3	99.99	1
  COLQ	99.98	1
  CPT2	99.65	1
  CRPPA	99.98	1
  CRYAB	100.00	1
  DAG1	100.00	1
  DES	100.00	1
  DGUOK	99.93	1
  DHX16	99.98	1
  DMD	99.76	1
  DMPK	99.93	1
  DNAJB6	99.97	1
  DNM2	99.99	1
  DNMT3B	99.98	1
  DOK7	99.97	1
  DOLK	100.00	1
  DPAGT1	100.00	1
  DPM1	90.68	1
  DPM2	100.00	1
  DPM3	99.98	1
  DYSF	99.95	1
  ECEL1	100.00	1
  EMD	99.93	1
  ENO3	100.00	1
  EPG5	99.95	1
  ETFA	99.88	1
  ETFB	100.00	1
  ETFDH	99.82	1
  FAM111B	99.98	1
  FDX2	99.99	1
  CFH	99.97	1
  FKBP14	99.97	1
  FKRP	100.00	1
  FKTN	99.94	1
  FLAD1	99.98	1
  FLNC	99.99	1
  FXR1	99.82	1
  GAA	100.00	1
  GBE1	99.73	1
  GFER	100.00	1
  GFPT1	99.79	1
  GGPS1	99.95	1
  GLDN	99.98	1
  GLE1	99.99	1
  GMPPB	100.00	1
  GNE	99.99	1
  GOLGA2	100.00	1
  GOSR2	98.92	1
  GYG1	99.85	1
  GYS1	99.98	1
  HACD1	99.98	1
  HADHA	99.98	1
  HADHB	99.82	1
  HEXB	99.91	1
  HNRNPA1	62.92	1
  HNRNPA2B1	99.90	1
  HNRNPDL	99.98	1
  HRAS	100.00	1
  HSPB1	99.97	1
  HSPB3	99.97	1
  HSPB8	100.00	1
  HSPG2	99.87	1
  HTRA2	99.99	1
  INPP5K	99.94	1
  ISCU	99.74	1
  ITGA7	99.87	1
  KBTBD13	100.00	1
  KLHL40	99.96	1
  KLHL41	99.96	1
  KLHL9	100.00	1
  KY	99.97	1
  LAMA2	99.95	1
  LAMA5	99.99	1
  LAMB2	99.99	1
  LAMP2	98.95	1
  LARGE1	100.00	1
  LARS2	99.96	1
  LAS1L	99.97	1
  LDB3	99.91	1
  LDHA	99.94	1
  LGI4	99.98	1
  LIMS2	99.97	1
  LMNA	99.96	1
  LMOD3	99.91	1
  LOXL4	99.92	1
  LPIN1	99.96	1
  LRIF1	99.82	1
  CORIN	99.89	1
  MAP3K20	99.84	1
  MB	99.99	1
  MCOLN1	100.00	1
  MEGF10	99.91	1
  MET	99.97	1
  MICU1	99.56	1
  MPDU1	99.97	1
  MRPS25	99.97	1
  MSTN	99.96	1
  MSTO1	76.34	1
  MTM1	99.76	1
  MTMR14	99.99	1
  MUSK	99.93	1
  MYBPC1	99.77	1
  MYBPC3	99.98	1
  MYF5	99.99	1
  MYH7B	99.98	1
  MYH2	99.98	1
  MYH3	99.99	1
  MYH7	99.99	1
  MYH8	100.00	1
  MYL1	99.75	1
  MYL2	99.99	1
  MYMK	99.88	1
  MYO18B	99.98	1
  MYO9A	99.93	1
  MYOT	99.93	1
  MYPN	99.88	1
  NEB	87.33	1
  NEFL	100.00	1
  ORAI1	99.63	1
  PABPN1	99.99	1
  PAX7	99.83	1
  PEX6	99.99	1
  PFKM	99.57	1
  PGAM2	100.00	1
  PGK1	99.93	1
  PGM1	96.77	1
  PHKA1	99.84	1
  PHKB	99.69	1
  PIEZO2	98.45	1
  PLEC	100.00	1
  PNPLA2	100.00	1
  PNPLA8	99.92	1
  POGLUT1	99.99	1
  POLG	100.00	1
  POLG2	99.51	1
  POMGNT1	99.69	1
  POMGNT2	100.00	1
  POMK	100.00	1
  POMT1	99.96	1
  POMT2	99.98	1
  POPDC3	99.96	1
  PREPL	99.63	1
  PRKAG2	99.96	1
  PTRH2	99.99	1
  PUS1	100.00	1
  PYGM	99.96	1
  PYROXD1	99.77	1
  RAPSN	99.97	1
  RBCK1	100.00	1
  RRM2B	99.97	1
  RXYLT1	99.48	1
  RYR1	99.97	1
  RYR3	99.98	1
  SCN4A	99.98	1
  SELENON	93.61	1
  SGCA	100.00	1
  SGCB	99.95	1
  SGCD	100.00	1
  SGCG	99.99	1
  SIL1	99.95	1
  SLC16A1	99.26	1
  SLC18A3	99.99	1
  SLC22A5	99.99	1
  SLC25A1	99.93	1
  SLC25A20	100.00	1
  SLC25A4	100.00	1
  SLC25A42	99.99	1
  SLC5A7	99.57	1
  SMCHD1	99.83	1
  SMPX	99.80	1
  SNAP25	99.89	1
  SPEG	99.99	1
  SPTBN4	99.91	1
  SQSTM1	100.00	1
  STAC3	99.91	1
  STIM1	99.99	1
  SUCLA2	99.96	1
  SVIL	99.98	1
  SYNE1	99.95	1
  SYNE2	99.95	1
  SYT2	99.93	1
  TARDBP	100.00	1
  TCAP	100.00	1
  TFAM	99.24	1
  TIA1	99.72	1
  TIMM22	100.00	1
  TK2	99.96	1
  TMEM43	99.96	1
  TMEM65	99.93	1
  TNNC2	99.99	1
  TNNI2	99.99	1
  TNNT1	99.82	1
  TNNT3	100.00	1
  TNPO3	99.96	1
  TNXB	90.86	1
  TOR1AIP1	98.45	1
  TPM2	100.00	1
  TPM3	83.21	1
  TRAPPC11	99.93	1
  TRIM32	100.00	1
  TRIM54	89.88	1
  TRIP4	99.97	1
  TSEN54	100.00	1
  TSFM	100.00	1
  TTN	99.15	1
  TYMP	99.87	1
  UNC45B	100.00	1
  VAMP1	100.00	1
  VCP	99.99	1
  VMA21	99.90	1
  VPS33B	99.95	1
  YARS2	99.93	1
  ZBTB42	100.00	1
  ZC4H2	99.98	1