LIPA

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Name:	lipase A, lysosomal acid type
Symbol:	LIPA
Version of Orphanet:	2023-06-22 14:14:43
Synonyms:	CESD LAL Wolman disease lysosomal acid lipase sterol esterase
XREF(s):	Orphanet Reactome Ensembl Genatlas HGNC OMIM SwissProt
Created:	13 May 2019 - 01:01
Changed:	22 Jun 2023 - 16:14

Related Genetic Tests

• Congenital malformation (gene panel - 1721 genes)
• Dyslipidemia (gene panel)
• Hepatology (gene panel)
• Hypercholesterolemia (9 genes)
• Hypercholesterolemia, Familial (9 genes)
• Hypercholesterolemia, Familial (Gene Panel)
• Hypercholesterolemia, Familial (gene panel)
• Lysosomal Storage Disease (gene panel)
• Metabolic diseases with hepatic disorders (20 genes)
• Primary immune deficiencies (gene panel)

Related Diseases

• Cholesteryl ester storage disease
• NON RARE IN EUROPE: Heterozygous familial hypercholesterolemia
• Wolman disease

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	,

• Dyslipidemia ( 13 genes) - ULB
  Details

  Gene	% of coding sequence sufficiently covered to detect heterozygous mutations	Copy number variation	Comments
  ABCG5	100.00	1	In case of hypercholesterolemia / NM_022436.2
  ABCG8	100.00	1	In case of hypercholesterolemia / NM_022437.2
  APOB	100.00	1	In case of hypercholesterolemia / NM_000384.2
  APOE	100.00	1	In case of hypercholesterolemia / NM_000041.3
  LDLR	100.00	1	In case of hypercholesterolemia / NM_000527.4
  LDLRAP1	100.00	1	In case of hypercholesterolemia / NM_015627.2
  LIPA	100.00	1	In case of hypercholesterolemia / NM_000235.3
  PCSK9	100.00	1	In case of hypercholesterolemia / NM_174936.3
  LPL	100.00	1	In case of hypertriglyceridemia / NM_000237.2
  APOC2	100.00	1	In case of hypertriglyceridemia / NM_000483.4
  APOA5	100.00	1	In case of hypertriglyceridemia / NM_052968.4
  GPIHBP1	100.00	1	In case of hypertriglyceridemia / NM_178172.5
  LMF1	100.00	1	In case of hypertriglyceridemia / NM_022773.3

• Familial Hypercholesterolemia (9 genes) - IPG
  Details

  Gene	% of coding sequence sufficiently covered to detect heterozygous mutations	Copy number variation	Comments
  APOB	100.00	1	NM_000384.3
  APOE	100.00	1	NM_000041.4
  LDLR	100.00	1	NM_000527.5
  LDLRAP1	100.00	1	NM_015627.3
  PCSK9	100.00	1	NM_174936.4
  ABCG5	100.00	1	NM_022436.3
  ABCG8	100.00	1	NM_022437.3
  LIPA	100.00	1	NM_000235.4
  STAP1	100.00	1	NM_012108.4

• Familial Hypercholesterolemia panel (8 genes) - UZA
  Details

  Gene	% of coding sequence sufficiently covered to detect heterozygous mutations	Copy number variation	Comments
  LDLR
  APOB
  APOE
  PCSK9
  LDLRAP1
  LIPA
  ABCG5
  ABCG8

• Familial Hypercholesterolemia panel (9 genes) - ULG
  Details

  Gene	% of coding sequence sufficiently covered to detect heterozygous mutations	Copy number variation	Comments
  LDLR	100.00	1	only for 5'UTR + coding exons + intronic borders +/-14pb
  APOB	99.79	0	only for coding exons and intronic borders +/-14pb Exons 26 and 29 are entirely covered at 30x Exon 1 is not covered
  APOE	100.00	0	only for coding exons and intronic borders +/-14pb
  PCSK9	100.00	0	only for coding exons and intronic borders +/-14pb
  LDLRAP1	98.69	0	only for coding exons and intronic borders +/-14pb exon 1 is not covered
  LIPA	100.00	0	only for coding exons and intronic borders +/-14pb
  ABCG5	100.00	0	only for coding exons and intronic borders +/-14pb
  ABCG8	100.00	0	only for coding exons and intronic borders +/-14pb
  STAP1	100.00	0	only for coding exons and intronic borders +/-14pb

• Hepatology panel - UGent
  Details

  Gene	% of coding sequence sufficiently covered to detect heterozygous mutations	Copy number variation	Comments
  ABCB11	99.86	1
  ABCB4	99.71	1
  ABCC2	99.94	1
  ABCD3	92.70	1
  ABCG5	99.96	1
  ABCG8	99.95	1
  ACADM	96.14	1
  ACADVL	100.00	1
  ACAT1	99.81	1
  ACOX2	99.81	1
  ADK	99.78	1
  AGL	97.67	1
  AGPAT2	100.00	1
  AKR1D1	99.91	1
  ALAD	99.99	1
  ALDOA	100.00	1
  ALDOB	100.00	1
  ALG8	95.49	1
  ALG9	99.73	1
  ALMS1	99.90	1
  AMACR	100.00	1
  ANKS6	100.00	1
  AP1S1	99.49	1
  ARG1	99.95	1
  ASL	99.98	1
  ASS1	77.52	1
  ATP7B	100.00	1
  ATP8B1	99.94	1
  BAAT	99.98	1
  BCS1L	99.99	1
  BSCL2	99.99	1
  BTD	100.00	1
  CAVIN1	100.00	1
  CC2D2A	99.95	1
  CCDC115	99.90	1
  CFTR	99.45	1
  CLDN1	99.99	1
  COG6	99.86	1
  COG7	99.74	1
  CYP21A2	99.91	1
  CPT1A	99.98	1
  CPT2	99.65	1
  CREB3L3	99.98	1
  CYP27A1	100.00	1
  CYP7A1	99.99	1
  CYP7B1	99.82	1
  DCDC2	99.96	1
  DGUOK	99.93	1
  DHCR7	99.97	1
  DKC1	99.59	1
  DLD	99.89	1
  DNAJB11	99.97	1
  EHHADH	99.99	1
  EIF2AK3	97.43	1
  ENO3	100.00	1
  EPHX1	99.97	1
  EPM2A	99.99	1
  ETFA	99.88	1
  ETFB	100.00	1
  FANCA	99.98	1
  FARSA	100.00	1
  FARSB	99.64	1
  FBP1	100.00	1
  FTH1	22.62	1
  G6PC1	99.93	1
  GAA	100.00	1
  GALE	99.90	1
  GALK1	100.00	1
  GALM	100.00	1
  GALT	100.00	1
  GANAB	99.97	1
  GBA1	96.92	1
  GBE1	99.73	1
  GFM1	99.95	1
  GNAS	100.00	1
  GUSB	95.07	1
  GYS1	99.98	1
  GYS2	99.86	1
  HADHA	99.98	1
  HAMP	99.99	1
  HFE	100.00	1
  HJV	99.99	1
  HLCS	99.97	1
  HNF1B	100.00	1
  HSD17B4	99.71	1
  HSD3B7	100.00	1
  IARS1	99.89	1
  IFT140	100.00	1
  INVS	99.94	1
  IVD	100.00	1
  JAG1	100.00	1
  KIF12	99.99	1
  KRT18	47.42	1
  KRT8	71.60	1
  LAMP2	98.95	1
  LARS1	99.87	1
  LDHA	99.94	1
  LIPA	99.96	1
  LRP5	99.95	1
  LSR	99.98	1
  MARS1	99.97	1
  MCEE	99.90	1
  MKS1	99.92	1
  MMUT	99.68	1
  MPI	99.95	1
  MPV17	99.98	1
  MVK	99.97	1
  MYO5B	100.00	1
  NBAS	99.86	1
  NEK9	99.99	1
  NEU1	99.98	1
  NGLY1	99.93	1
  NHLRC1	100.00	1
  NOTCH2	99.03	1
  NPC1	99.99	1
  NPC2	100.00	1
  NPHP1	99.05	1
  NPHP3	99.89	1
  NPHP4	99.98	1
  NR1H4	99.49	1
  OXCT1	99.82	1
  PODXL	99.99	1
  PCCA	99.90	1
  PCCB	99.97	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
  PFKM	99.57	1
  PGAM2	100.00	1
  PGK1	99.93	1
  PGM1	96.77	1
  PHKA1	99.84	1
  PHKA2	99.92	1
  PHKB	99.69	1
  PHKG2	99.86	1
  PKD1	99.98	1
  PKD2	99.91	1
  PKHD1	99.95	1
  PMM2	99.93	1
  PNPLA3	100.00	1
  POLG	100.00	1
  PPM1F	100.00	1
  PRKAG2	99.96	1
  PRKCSH	99.99	1
  PYGL	99.99	1
  PYGM	99.96	1
  RBCK1	100.00	1
  RINT1	99.99	1
  RPGRIP1L	96.35	1
  SBDS	99.93	1
  SCO1	99.98	1
  SEC63	99.84	1
  SERPINA1	100.00	1
  SLC10A1	99.99	1
  SLC10A2	99.99	1
  SLC16A1	99.26	1
  SLC25A13	99.67	1
  SLC25A20	100.00	1
  SLC2A2	99.96	1
  SLC30A10	99.99	1
  SLC51A	100.00	1
  SLCO1B1	98.69	1
  SLCO1B3	99.85	1
  SMPD1	100.00	1
  PMP22	99.99	1
  STN1	99.88	1
  STT3B	99.96	1
  TALDO1	100.00	1
  TANGO2	99.85	1
  TFR2	99.97	1
  TJP2	99.99	1
  TMEM216	99.98	1
  TMEM67	99.69	1
  TRMU	100.00	1
  SKIC3	99.82	1
  TWNK	100.00	1
  UGT1A1	99.98	1
  UNC45A	100.00	1
  UROS	100.00	1
  USP53	99.92	1
  UTP4	99.91	1
  VIPAS39	99.87	1
  VPS33B	99.95	1
  VPS50	98.35	1
  WDR83OS	100.00	1
  YARS1	99.29	1
  ZFYVE19	99.99	1

• Hypercholesterolemia (9 genes) - UCL
  Details

  Gene	% of coding sequence sufficiently covered to detect heterozygous mutations	Copy number variation	Comments
  LDLR	100.00	1
  APOB	100.00	1
  PCSK9	100.00	1
  ABCG5	100.00	1
  ABCG8	100.00	1
  APOE	100.00	1
  LDLRAP1	100.00	1
  LIPA	100.00	1
  STAP1	100.00	1

• Lysomal Storage (64 genes) - VUB
  Details

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

• Metabolic diseases with hepatic disorders (20 genes) - UCL
  Details

  Gene	% of coding sequence sufficiently covered to detect heterozygous mutations	Copy number variation	Comments
  ATP7B	100.00	1	Part of Custom Gastro-pneumo panel
  CPT1A	100.00	1	Part of Custom Gastro-pneumo panel
  CYP27A1	100.00	1	Part of Custom Gastro-pneumo panel
  DGUOK	100.00	1	Part of Custom Gastro-pneumo panel
  DHCR7	100.00	1	Part of Custom Gastro-pneumo panel
  EHHADH	100.00	1	Part of Custom Gastro-pneumo panel
  GBE1	100.00	1	Part of Custom Gastro-pneumo panel
  GNAS	0.00	1	Part of Custom Gastro-pneumo panel / only Exons 8 and 9
  GUSB	100.00	1	Part of Custom Gastro-pneumo panel
  LIPA	100.00	1	Part of Custom Gastro-pneumo panel
  MPV17	100.00	1	Part of Custom Gastro-pneumo panel
  NEU1	100.00	1	Part of Custom Gastro-pneumo panel
  NPC1	100.00	1	Part of Custom Gastro-pneumo panel
  NPC2	100.00	1	Part of Custom Gastro-pneumo panel
  POLG	100.00	1	Part of Custom Gastro-pneumo panel
  SI	100.00	1	Part of Custom Gastro-pneumo panel
  SLC25A13	100.00	1	Part of Custom Gastro-pneumo panel
  SMPD1	100.00	1	Part of Custom Gastro-pneumo panel
  TALDO1	100.00	1	Part of Custom Gastro-pneumo panel
  TRMU	100.00	1	Part of Custom Gastro-pneumo panel

• Primary immune deficiencies - UGent
  Details

  Gene	% of coding sequence sufficiently covered to detect heterozygous mutations	Copy number variation	Comments
  ACD	100.00	1
  ACP5	100.00	1
  ACTB	100.00	1
  ADA	99.97	1
  ADA2	100.00	1
  ADAM17	99.94	1
  ADAR	99.84	1
  AICDA	99.94	1
  AIRE	99.95	1
  AK2	99.39	1
  ALPI	100.00	1
  AP1S3	100.00	1
  AP3B1	99.89	1
  AP3D1	100.00	1
  APOL1	99.99	1
  ARHGEF1	99.97	1
  ARPC1B	99.92	1
  ATG16L1	99.95	1
  ATG4A	99.86	1
  ATM	99.83	1
  ATP2A2	99.98	1
  ATP6AP1	100.00	1
  B2M	100.00	1
  BACH2	99.99	1
  BCL10	99.74	1
  BCL11B	100.00	1
  BLK	99.98	1
  BLM	99.80	1
  BLNK	99.90	1
  BLOC1S3	100.00	1
  BLOC1S6	99.98	1
  BTK	99.88	1
  C1QA	99.99	1
  C1QB	99.58	1
  C1QC	99.97	1
  C1R	99.99	1
  C1S	99.98	1
  C2	99.99	1
  C2orf69	99.97	1
  C3	100.00	1
  C4A	21.28	1
  C4BPA	99.95	1
  C5	99.92	1
  C6	99.97	1
  C7	99.94	1
  C8A	99.95	1
  C8B	99.37	1
  C8G	99.99	1
  C9	99.89	1
  CARD11	99.97	1
  CARD14	99.99	1
  CARD9	100.00	1
  CARMIL2	99.99	1
  CASP10	99.85	1
  CASP8	99.92	1
  CBL	99.95	1
  CCBE1	99.52	1
  CCDC28B	99.99	1
  CD19	99.98	1
  CD247	99.79	1
  CD27	99.95	1
  CD3D	100.00	1
  CD3E	100.00	1
  CD3G	100.00	1
  CD4	100.00	1
  CD40	100.00	1
  CD40LG	99.88	1
  CD46	99.86	1
  CD55	74.12	1
  CD59	100.00	1
  CD70	99.99	1
  CD79A	99.97	1
  CD79B	99.93	1
  CD81	99.97	1
  CD8A	99.97	1
  CDC42	98.05	1
  CDCA7	99.88	1
  CEBPE	100.00	1
  CFB	99.97	1
  CFD	99.99	1
  CFH	99.12	1
  CFHR1	84.44	1
  CFHR2	90.26	1
  CFHR3	91.62	1
  CFHR4	99.86	1
  CFHR5	99.68	1
  CFI	99.87	1
  CFP	99.96	1
  CFTR	99.45	1
  CHD7	99.99	1
  CIB1	99.92	1
  CIITA	99.99	1
  CLCN7	99.99	1
  CLEC7A	99.98	1
  CLPB	99.97	1
  COL7A1	99.99	1
  COPA	99.61	1
  CORO1A	91.71	1
  CPT2	99.65	1
  CR2	99.97	1
  CREBBP	99.97	1
  CSF2RA	93.86	1
  CSF2RB	100.00	1
  CSF3R	99.97	1
  CTC1	100.00	1
  CTLA4	99.99	1
  CTNNBL1	100.00	1
  CTPS1	98.63	1
  CTSC	99.97	1
  CXCR4	99.98	1
  CYBA	99.96	1
  CYBB	99.87	1
  CYBC1	100.00	1
  DBR1	99.92	1
  DCLRE1B	99.91	1
  DCLRE1C	99.79	1
  RIGI	99.84	1
  DEF6	100.00	1
  DGKE	99.10	1
  DHFR	98.89	1
  DKC1	99.59	1
  DNAJC21	99.67	1
  DNASE1	100.00	1
  DNASE1L3	99.90	1
  DNASE2	100.00	1
  DNMT3B	99.98	1
  DOCK2	100.00	1
  DOCK8	99.86	1
  DOK3	99.95	1
  DTNBP1	99.89	1
  EFL1	99.83	1
  ELANE	100.00	1
  ELF4	99.97	1
  EPG5	99.95	1
  ERBIN	99.69	1
  ERCC6L2	99.94	1
  EXTL3	99.99	1
  F12	99.99	1
  FAAP24	99.95	1
  FADD	99.97	1
  FAS	99.99	1
  FASLG	99.84	1
  FAT4	99.98	1
  FCGR2B	70.97	1
  FCGR3A	99.93	1
  FCGR3B	95.51	1
  FCHO1	99.99	1
  FCN3	99.48	1
  FERMT1	99.90	1
  FERMT3	99.99	1
  FNIP1	99.87	1
  FOXN1	99.97	1
  FOXP3	99.93	1
  FPR1	100.00	1
  G6PC3	99.98	1
  G6PD	99.97	1
  GATA1	99.97	1
  GATA2	99.99	1
  GFI1	99.88	1
  GIMAP5	100.00	1
  GINS1	99.99	1
  GUCY2C	99.90	1
  HAVCR2	99.93	1
  HAX1	100.00	1
  HELLS	99.78	1
  HMOX1	99.95	1
  HPS1	100.00	1
  HPS4	99.98	1
  HPS6	100.00	1
  HTRA2	99.99	1
  HYOU1	99.97	1
  ICOS	99.95	1
  ICOSLG	5.95	1
  IFIH1	99.84	1
  IFNAR1	99.75	1
  IFNAR2	89.62	1
  IFNG	99.50	1
  IFNGR1	99.87	1
  IFNGR2	99.95	1
  IGHM	100.00	1
  IGKC	99.99	1
  IGLL1	100.00	1
  IKBKB	99.93	1
  IKBKG	57.34	1
  IKZF1	99.92	1
  IL10	100.00	1
  IL10RA	99.99	1
  IL10RB	99.99	1
  IL12B	99.98	1
  IL12RB1	94.11	1
  IL12RB2	97.66	1
  IL15RA	99.96	1
  IL17F	99.99	1
  IL17RA	100.00	1
  IL17RC	100.00	1
  IL18	99.85	1
  IL18BP	99.99	1
  IL1RL1	99.76	1
  IL1RN	99.64	1
  IL21	99.95	1
  IL21R	99.70	1
  IL23R	97.64	1
  IL2RA	99.99	1
  IL2RB	100.00	1
  IL2RG	99.86	1
  IL36RN	100.00	1
  IL6R	92.46	1
  IL6ST	99.88	1
  IL7R	99.99	1
  ILRUN	100.00	1
  INO80	99.96	1
  IRAK1	99.98	1
  IRAK4	98.85	1
  IRF2BP2	100.00	1
  IRF3	99.96	1
  IRF4	99.99	1
  IRF7	100.00	1
  IRF8	99.99	1
  IRF9	100.00	1
  ISG15	100.00	1
  ITCH	95.57	1
  ITGB2	100.00	1
  ITK	99.91	1
  ITPKB	99.99	1
  IVNS1ABP	99.24	1
  JAGN1	100.00	1
  JAK1	99.32	1
  JAK3	99.99	1
  KDM6A	99.74	1
  KMT2A	99.97	1
  KMT2D	99.98	1
  KRAS	99.13	1
  LACC1	99.99	1
  LAMTOR2	99.92	1
  LAT	99.85	1
  LCK	99.56	1
  LCP2	99.58	1
  LIG1	99.93	1
  LIG4	100.00	1
  LIPA	99.96	1
  LPIN2	100.00	1
  LRBA	99.76	1
  LRRC8A	100.00	1
  LSM11	100.00	1
  LYST	99.87	1
  MAGT1	99.54	1
  MALT1	99.71	1
  MAN2B1	99.99	1
  MAP1LC3B2	100.00	1
  MAP3K14	99.98	1
  MAPK8	99.64	1
  MASP1	99.99	1
  MASP2	99.95	1
  MBL2	99.93	1
  MCM10	99.99	1
  MCM4	99.96	1
  MEFV	100.00	1
  MOGS	100.00	1
  MPEG1	100.00	1
  MPO	99.97	1
  MRE11	99.93	1
  MRTFA	92.99	1
  MS4A1	99.60	1
  MSH6	99.97	1
  MSN	99.98	1
  MTHFD1	100.00	1
  MVK	99.97	1
  MYD88	99.99	1
  MYO5B	100.00	1
  MYSM1	94.16	1
  NBAS	99.86	1
  NBN	99.93	1
  NCF1	57.22	1
  NCF2	99.85	1
  NCF4	100.00	1
  NCKAP1L	99.77	1
  NCSTN	99.82	1
  NFAT5	99.93	1
  NFE2L2	99.97	1
  NFKB1	99.80	1
  NFKB2	99.98	1
  NFKBIA	99.99	1
  NHEJ1	99.91	1
  NHP2	99.96	1
  NKX2-5	99.75	1
  NLRC4	99.95	1
  NLRP1	95.26	1
  NLRP12	99.99	1
  NLRP3	100.00	1
  NLRP7	99.99	1
  NOD2	99.98	1
  NOP10	99.99	1
  NOS2	96.11	1
  NPC1	99.99	1
  NRAS	99.66	1
  NSMCE3	100.00	1
  OAS1	99.96	1
  ORAI1	99.63	1
  OSTM1	99.56	1
  OTULIN	99.95	1
  PARN	99.75	1
  PAX1	100.00	1
  PCCA	99.90	1
  PCCB	99.97	1
  PEPD	99.98	1
  PGM3	99.94	1
  PIK3CD	99.99	1
  PIK3CG	99.72	1
  PIK3R1	99.86	1
  PLCG2	99.99	1
  PLEKHM1	99.77	1
  PLG	99.89	1
  PMS2	70.47	1
  PNP	100.00	1
  POLA1	99.57	1
  POLD1	99.96	1
  POLD2	99.95	1
  POLE	99.99	1
  POLE2	99.87	1
  POLR3A	99.97	1
  POLR3C	99.89	1
  POLR3F	99.97	1
  NT5C3A	99.95	1
  PRF1	100.00	1
  PRIM1	99.07	1
  PRKCD	99.96	1
  PRKDC	99.93	1
  PSEN1	100.00	1
  PSENEN	100.00	1
  PSMA3	99.96	1
  PSMB10	99.98	1
  PSMB4	99.83	1
  PSMB8	99.96	1
  PSMB9	99.68	1
  PSMG2	99.98	1
  PSTPIP1	99.91	1
  PSTPIP2	99.98	1
  PTEN	99.89	1
  PTPN11	99.98	1
  PTPN2	99.98	1
  PTPN6	100.00	1
  PTPRC	93.90	1
  RAB27A	99.94	1
  RAC2	99.99	1
  RAG1	100.00	1
  RAG2	100.00	1
  RANBP2	99.37	1
  RASGRP1	100.00	1
  RBCK1	100.00	1
  RC3H1	99.22	1
  RECQL4	100.00	1
  REL	96.99	1
  RELA	99.99	1
  RELB	99.97	1
  RFX5	99.88	1
  RFXANK	100.00	1
  RFXAP	99.98	1
  RHOH	99.99	1
  RIPK1	99.93	1
  RMRP	100.00	1
  RNASEH2A	99.95	1
  RNASEH2B	99.94	1
  RNASEH2C	99.99	1
  RNF168	99.97	1
  RNF31	100.00	1
  RORC	99.42	1
  RPSA	0.00	1
  RTEL1	100.00	1
  SAMD9	99.93	1
  SAMD9L	99.95	1
  SAMHD1	99.98	1
  SASH3	99.99	1
  SBDS	99.93	1
  SDHA	99.98	1
  SEC61A1	99.99	1
  SEMA3E	99.13	1
  SERPING1	100.00	1
  SGPL1	99.95	1
  SH2D1A	98.98	1
  SH3BP2	100.00	1
  SH3KBP1	99.95	1
  SKIC2	99.98	1
  SLC11A1	99.99	1
  SLC29A3	99.98	1
  SLC35C1	100.00	1
  SLC37A4	99.90	1
  SLC39A7	100.00	1
  SLC46A1	100.00	1
  SLC7A7	99.99	1
  SLC9A3	100.00	1
  SMARCAL1	99.97	1
  SMARCD2	99.99	1
  SNX10	99.96	1
  SOCS1	99.98	1
  SOCS4	99.92	1
  PMP22	99.99	1
  SPI1	99.81	1
  SPINK5	99.91	1
  SPPL2A	99.88	1
  SRP54	99.83	1
  SRP72	99.91	1
  STAT1	99.83	1
  STAT2	99.89	1
  STAT3	99.97	1
  STAT4	99.77	1
  STAT5B	99.50	1
  STAT6	99.87	1
  STIM1	99.99	1
  STING1	99.87	1
  STK4	99.91	1
  STN1	99.88	1
  STX11	100.00	1
  STXBP2	100.00	1
  STXBP3	85.74	1
  SYK	99.96	1
  TAFAZZIN	99.98	1
  TAP1	99.97	1
  TAP2	99.94	1
  TAPBP	99.98	1
  TBK1	99.07	1
  TBX1	99.95	1
  TBX21	99.99	1
  TCF3	100.00	1
  TCIRG1	99.99	1
  TCN2	100.00	1
  TERC	98.59	1
  TERT	100.00	1
  TET2	99.99	1
  TFRC	99.87	1
  TGFB1	100.00	1
  TGFBR1	99.94	1
  TGFBR2	99.98	1
  THBD	100.00	1
  TICAM1	99.99	1
  TINF2	100.00	1
  TIRAP	100.00	1
  TLR3	99.99	1
  TLR4	99.99	1
  TLR7	99.98	1
  TMC6	100.00	1
  TMC8	99.92	1
  TNFAIP3	99.94	1
  TNFRSF11A	100.00	1
  TNFRSF13B	99.43	1
  TNFRSF13C	99.99	1
  TNFRSF1A	100.00	1
  TNFRSF4	100.00	1
  TNFRSF9	99.99	1
  TNFSF11	99.89	1
  TNFSF12	100.00	1
  TNFSF13	100.00	1
  TOP2B	99.72	1
  TPP2	99.89	1
  TRAC	100.00	1
  TRAF3	99.97	1
  TRAF3IP2	100.00	1
  TREX1	100.00	1
  TRIM22	100.00	1
  TRNT1	99.97	1
  SKIC3	99.82	1
  TTC7A	99.77	1
  TYK2	99.99	1
  UBA1	99.93	1
  UNC119	100.00	1
  UNC13D	100.00	1
  UNC93B1	99.75	1
  UNG	100.00	1
  USB1	89.62	1
  USP18	93.05	1
  VAV1	99.99	1
  VPS13B	99.90	1
  VPS45	93.94	1
  WAS	99.90	1
  WDR1	99.99	1
  WIPF1	99.87	1
  WRAP53	100.00	1
  XBP1	99.99	1
  XIAP	99.36	1
  ZAP70	99.95	1
  ZBTB24	99.99	1
  ZNF341	100.00	1
  ZNFX1	99.99	1