CFTR

Analyte Export to PDF

Name:	CF transmembrane conductance regulator
Symbol:	CFTR
Version of Orphanet:	2023-06-22 14:14:43
Synonyms:	ABC35 ATP-binding cassette sub-family C, member 7 CFTR/MRP MRP7 TNR-CFTR dJ760C5.1
XREF(s):	Orphanet Ensembl Genatlas HGNC OMIM Reactome SwissProt
Created:	13 May 2019 - 01:01
Changed:	22 Jun 2023 - 16:14

Related Genetic Tests

• Bronchiectasies with or without elevated sweat chloride panel (5 genes)
• Bronchiectasis (4 genes)
• Congenital malformation (gene panel - 1721 genes)
• Congenital malformation gene panel
• Cystic Fibrosis
• Cystic Fibrosis / Congenital absence of the vas deferens / CFTR-related disorders (50 hot spot mutations)
• Cystic Fibrosis / Congenital absence of the vas deferens / CFTR-related disorders (88 hot spot mutations)
• Cystic Fibrosis / Congenital absence of the vas deferens / CFTR-related disorders (Sequencing CFTR gene)
• Cystic Fibrosis / Congenital absence of the vas deferens / related disorders (50 hot spot mutations)
• Cystic Fibrosis / Congenital bilateral absence of vas deferens (CBAVD) / Idiopathic pancreatitis (50 recurrent mutations)
• Cystic Fibrosis / related disorder
• Cystic Fibrosis / related disorder (Full sequencing)
• Cystic Fibrosis / related disorders
• Cystic Fibrosis / related disorders (50 hot spot mutations)
• Cystic Fibrosis / related disorders (50 hot spot mutations)
• Cystic Fibrosis / related disorders (50 hot spot mutations)
• Cystic Fibrosis / related disorders (CFTR gene 88 hot spot mutations / newborn screening 12 hot spot mutations)
• Cystic Fibrosis and related disorders (TG repeat intron 8)
• Cystic Fibrosis, newborn screening (12 hot spot mutations; CFTR)
• Cystic Fibrosis, newborn screening (12 hot spot mutations; CFTR)
• Hepatology (gene panel)
• Male infertility
• Pancreatitis, hereditary (7 genes)
• Pancreatitis, hereditary (7 genes)
• Pancreatitis, idiopathic or hereditary (7 genes)
• Primary ciliary dyskinesia (PCD) Heterotaxyies (gene panel)
• Primary immune deficiencies (gene panel)
• Primary immune deficiencies (gene panel)

Related Diseases

• Aquagenic palmoplantar keratoderma
• Congenital bilateral absence of vas deferens
• Cystic fibrosis
• Hereditary chronic pancreatitis
• Idiopathic bronchiectasis
• Male infertility with azoospermia or oligozoospermia due to single gene mutation
• NON RARE IN EUROPE: Recurrent acute pancreatitis

Related Gene Panels

• Bronchiectasis (4 genes) - UCL
  Details

  Gene	% of coding sequence sufficiently covered to detect heterozygous mutations	Copy number variation	Comments
  CFTR	100.00	1	Part of Gastro-Pneumo panel + analysis of rs397508266 + rs397508261 + rs201716473 + rs76151804 + rs75039782
  SCNN1A	100.00	1	Part of Gastro-Pneumo panel
  SCNN1B	100.00	1	Part of Gastro-Pneumo panel
  SCNN1G	100.00	1	Part of Gastro-Pneumo panel

• Bronchiectasis with or without elevated sweat chloride (4 genes)
  Details

  Gene	% of coding sequence sufficiently covered to detect heterozygous mutations	Copy number variation	Comments
  CFTR
  SCNN1A
  SCNN1B
  SCNN1G

• 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

• 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

• Hereditary Pancreatitis (5 genes) - IPG
  Details

  Gene	% of coding sequence sufficiently covered to detect heterozygous mutations	Copy number variation	Comments
  CFTR
  PRSS1
  SPINK1
  CPA1
  CTRC

• Hereditary Pancreatitis IPG
  Details

  Gene	% of coding sequence sufficiently covered to detect heterozygous mutations	Copy number variation	Comments
  CFTR
  CPA1
  CTRC
  PRSS1
  SPINK1

• Heterotaxie PCD - UGent
  Details

  Gene	% of coding sequence sufficiently covered to detect heterozygous mutations	Copy number variation	Comments
  ACTC1	98.57	0
  ACVR2B	99.99	0
  AK7	99.93	0
  ALMS1	99.90	0
  ANKS6	100.00	0
  BBS1	100.00	0
  BBS10	99.98	0
  BBS2	99.90	0
  BCL9L	99.99	0
  BCOR	99.97	0
  BRAF	99.78	0
  C1orf127	99.98	0
  CBL	99.95	0
  CCDC103	99.68	0
  CCDC39	99.74	0
  CCDC40	100.00	0
  CCDC65	99.80	0
  CCNO	100.00	0
  CENPF	99.97	0
  CEP164	99.99	0
  CEP290	98.10	0
  CFAP298	99.96	0
  CFAP300	99.47	0
  CFAP45	99.97	0
  CFAP52	99.92	0
  CFAP53	99.95	0
  CFAP58	99.96	0
  CFC1	21.93	0
  CFTR	99.45	0
  CHD7	99.99	0
  CITED2	100.00	0
  CRELD1	99.99	0
  DAW1	99.90	0
  DGAT2L6	99.97	0
  DNAAF1	99.99	0
  DNAAF11	99.80	0
  DNAAF2	99.91	0
  DNAAF3	99.99	0
  DNAAF4	99.78	0
  DNAAF5	99.99	0
  DNAAF6	98.73	0
  DNAH1	99.98	0
  DNAH11	99.93	0
  DNAH12	99.36	0
  DNAH14	99.64	0
  DNAH17	99.98	0
  DNAH5	99.98	0
  DNAH8	99.84	0
  DNAH9	99.79	0
  DNAI1	99.92	0
  DNAI2	99.86	0
  DNAJB13	99.91	0
  DRC1	99.93	0
  DYNC1H1	99.99	0
  DYNLT2	99.95	0
  ELN	99.86	0
  EVC	99.95	0
  EVC2	99.97	0
  FOXF1	99.99	0
  FOXH1	100.00	0
  FOXJ1	100.00	0
  GAS2L2	100.00	0
  GAS8	100.00	0
  GATA4	99.99	0
  GATA6	99.90	0
  GDF1	100.00	0
  GJA1	100.00	0
  GPC3	99.60	0
  HAND1	99.99	0
  HES7	100.00	0
  HYDIN	81.28	0
  IFT46	99.58	0
  INVS	99.94	0
  JAG1	100.00	0
  KIF7	100.00	0
  LEFTY1	99.98	0
  LEFTY2	100.00	0
  LMBRD1	99.67	0
  CIROP	91.91	0
  LMNA	99.96	0
  LRRC56	99.98	0
  LZTFL1	100.00	0
  MAP2K1	99.98	0
  MAP2K2	99.99	0
  MCIDAS	100.00	0
  MED13L	99.99	0
  MEGF8	99.90	0
  MEIS2	99.97	0
  MKS1	99.92	0
  MMP21	99.99	0
  MNS1	99.86	0
  MRE11	99.93	0
  MYH6	100.00	0
  NAT10	99.97	0
  NEK10	96.92	0
  NEK9	99.99	0
  NKX2-5	99.75	0
  NKX2-6	100.00	0
  NME5	99.81	0
  NME8	99.83	0
  NODAL	99.98	0
  NOTCH1	99.98	0
  NOTCH2	99.03	0
  NPHP3	99.89	0
  NR2F2	100.00	0
  NSD1	99.98	0
  ODAD1	96.04	0
  ODAD2	98.19	0
  ODAD3	99.96	0
  ODAD4	99.85	0
  OFD1	99.68	0
  PITRM1	99.89	0
  PKD1L1	99.84	0
  PKD2	99.91	0
  PQBP1	99.99	0
  PRRX1	99.56	0
  PTPN11	99.98	0
  RAF1	99.97	0
  RIT1	99.78	0
  RPGR	94.45	0
  RSPH1	99.87	0
  RSPH3	99.94	0
  RSPH4A	99.95	0
  RSPH9	99.99	0
  SERPINE2	99.97	0
  SHOC2	99.96	0
  SHROOM3	99.99	0
  SMAD2	99.92	0
  SMAD6	100.00	0
  SOS1	99.68	0
  SPAG1	99.78	0
  SPEF2	99.93	0
  STK36	99.98	0
  TBX1	99.95	0
  TBX5	99.98	0
  TCTN2	99.99	0
  TP73	100.00	0
  TTC12	99.97	0
  TTC8	99.67	0
  UBR1	99.93	0
  WDR35	99.92	0
  WDR47	95.08	0
  ZFPM2	100.00	0
  ZIC3	99.90	0
  ZMPSTE24	98.70	0
  ZMYND10	99.99	0
  ZNF423	98.94	0

• Pancreatitis (7 genes) - UCL
  Details

  Gene	% of coding sequence sufficiently covered to detect heterozygous mutations	Copy number variation	Comments
  CFTR	100.00	1	Part of custom Gastro-pneumo panel
  SPINK1	100.00	1	Part of custom Gastro-pneumo panel
  PRSS1	100.00	1	Part of custom Gastro-pneumo panel
  CTRC	100.00	1	Part of custom Gastro-pneumo panel
  CASR	100.00	1	Part of custom Gastro-pneumo panel
  CLDN2	100.00	1	Part of custom Gastro-pneumo panel + rs7057398
  CPA1	100.00	1	Part of custom Gastro-pneumo panel

• Pancreatitis (7 genes) - ULB
  Details

  Gene	% of coding sequence sufficiently covered to detect heterozygous mutations	Copy number variation	Comments
  CFTR	100.00	1	Core gene
  SPINK1	100.00	1	Core gene
  PRSS1	100.00	1	Core gene
  CASR	100.00	1
  CLDN2	100.00	1
  CPA1	100.00	1
  CTRC	100.00	1

• Pancreatitis (7 genes) - ULG
  Details

  Gene	% of coding sequence sufficiently covered to detect heterozygous mutations	Copy number variation	Comments
  CFTR	100.00	1	Duplications/deletions by MLPA
  SPINK1	100.00	0
  PRSS1	100.00	0	Only exons 2, 3, 4, 5 are amplified and analyzed by sequencing.
  CTRC	100.00	0
  CASR	100.00	0
  CLDN2	100.00	0
  CPA1	100.00	0

• Primary immune deficiencies (444 genes) - KUL
  Details

  Gene	% of coding sequence sufficiently covered to detect heterozygous mutations	Copy number variation	Comments
  ACD	95.00	0	NM_001082486.1/ interpretable range CS1>95%
  ACP5	95.00	0	NM_001111035.2/ interpretable range CS1>95%
  ACTB	95.00	0	NM_001101.4/ interpretable range CS1>95%
  ADA	95.00	0	NM_000022.3/ interpretable range CS1>95%
  ADA2	95.00	1	NM_001282225.1/ interpretable range CS1>95%
  ADAM17	95.00	0	NM_003183.6/ interpretable range CS1>95%
  ADAR	95.00	0	NM_001111.5/ interpretable range CS1>95%
  AICDA	95.00	0	NM_020661.3/ interpretable range CS1>95%
  AIRE	95.00	0	NM_000383.3/ interpretable range CS1>95%
  AK2	95.00	0	NM_001625.3/ interpretable range CS1>95%
  ALPI	95.00	0	NM_001631.4/ interpretable range CS1>95%
  AP1S3	95.00	0	NM_001039569.1/ interpretable range CS1>95%
  AP3B1	95.00	0	NM_003664.4/ interpretable range CS1>95%
  AP3D1	95.00	0	NM_001261826.3/ interpretable range CS1>95%
  APOL1	95.00	0	NM_003661.3/ interpretable range CS1>95%
  ARPC1B	95.00	0	NM_005720.4/ interpretable range CS1>95%
  ATAD3A	95.00	0	NM_001170535.2/ interpretable range CS1>95%
  ATG4A	95.00	0	NM_052936.4/ interpretable range CS1>95%
  ATM	95.00	0	NM_000051.3/ interpretable range CS1>95%
  ATP6AP1	95.00	0	NM_001183.5/ interpretable range CS1>95%
  ATP6V0A2	95.00	0	NM_012463.3/ interpretable range CS1>95%
  B2M	95.00	0	NM_004048.2/ interpretable range CS1>95%
  BACH2	95.00	0	NM_021813.3/ interpretable range CS1>95%
  BCL10	95.00	0	NM_003921.5/ interpretable range CS1>95%
  BCL11B	95.00	0	NM_138576.3/ interpretable range CS1>95%
  BLM	95.00	0	NM_000057.3/ interpretable range CS1>95%
  BLNK	95.00	0	NM_013314.3/ interpretable range CS1>95%
  BPIFA1	95.00	0	NM_016583.3/ interpretable range CS1>95%
  BTK	95.00	0	NM_000061.2/ interpretable range CS1>95%
  C1QA	95.00	0	NM_015991.3/ interpretable range CS1>95%
  C1QB	95.00	0	NM_000491.4/ interpretable range CS1>95%
  C1QC	95.00	0	NM_172369.4/ interpretable range CS1>95%
  C1R	95.00	0	NM_001733.6/ interpretable range CS1>95%
  C1S	95.00	0	NM_201442.3/ interpretable range CS1>95%
  C2	95.00	0	NM_000063.5/ interpretable range CS1>95%
  C2orf69	95.00	0	NM_153689.5/ interpretable range CS1>95%
  C3	95.00	0	NM_000064.3/ interpretable range CS1>95%
  C5	95.00	0	NM_001735.2/ interpretable range CS1>95%
  C6	95.00	0	NM_000065.3/ interpretable range CS1>95%
  C7	95.00	0	NM_000587.3/ interpretable range CS1>95%
  C8A	95.00	0	NM_000562.2/ interpretable range CS1>95%
  C8B	95.00	0	NM_000066.3/ interpretable range CS1>95%
  C9	95.00	0	NM_001737.4/ interpretable range CS1>95%
  CARD11	95.00	0	NM_032415.5/ interpretable range CS1>95%
  CARD14	95.00	0	NM_024110.4/ interpretable range CS1>95%
  CARD9	95.00	0	NM_052813.4/ interpretable range CS1>95%
  CARMIL2	95.00	0	NM_001013838.2/ interpretable range CS1>95%
  CASP10	95.00	0	NM_032977.3/ interpretable range CS1>95%
  CASP8	95.00	0	NM_001228.4/ interpretable range CS1>95%
  CCBE1	95.00	0	NM_133459.4/ interpretable range CS1>95%
  CD19	95.00	0	NM_001770.5/ interpretable range CS1>95%
  CD247	95.00	0	NM_198053.2/ interpretable range CS1>95%
  CD27	95.00	0	NM_001242.4/ interpretable range CS1>95%
  CD28	95.00	0	NM_006139.3/ interpretable range CS1>95%
  CD3D	95.00	0	NM_000732.4/ interpretable range CS1>95%
  CD3E	95.00	0	NM_000733.3/ interpretable range CS1>95%
  CD3G	95.00	0	NM_000073.2/ interpretable range CS1>95%
  CD4	95.00	0	NM_000616.4/ interpretable range CS1>95%
  CD40	95.00	0	NM_001250.5/ interpretable range CS1>95%
  CD40LG	95.00	0	NM_000074.2/ interpretable range CS1>95%
  CD46	95.00	0	NM_002389.4/ interpretable range CS1>95%
  CD48	95.00	0	NM_001778.3/ interpretable range CS1>95%
  CD55	95.00	0	NM_000574.4/ interpretable range CS1>95%
  CD59	95.00	0	NM_203330.2/ interpretable range CS1>95%
  CD70	95.00	0	NM_001252.4/ interpretable range CS1>95%
  CD79A	95.00	0	NM_001783.3/ interpretable range CS1>95%
  CD79B	95.00	0	NM_000626.3/ interpretable range CS1>95%
  CD81	95.00	0	NM_004356.3/ interpretable range CS1>95%
  CD8A	95.00	0	NM_001768.6/ interpretable range CS1>95%
  CDC42	95.00	0	NM_001791.3/ interpretable range CS1>95%
  CDCA7	95.00	0	NM_031942.4/ interpretable range CS1>95%
  CDH17	95.00	0	NM_004063.3/ interpretable range CS1>95%
  CEBPE	95.00	0	NM_001805.3/ interpretable range CS1>95%
  CFB	95.00	0	NM_001710.5/ interpretable range CS1>95%
  CFD	95.00	0	NM_001928.3/ interpretable range CS1>95%
  CFH	95.00	0	NM_000186.3/ interpretable range CS1>95%
  CFHR1	95.00	0	NM_002113.2/ interpretable range CS1>95%
  CFHR2	95.00	0	NM_005666.3/ interpretable range CS1>95%
  CFHR3	95.00	0	NM_021023.5/ interpretable range CS1>95%
  CFHR4	95.00	0	NM_001201550.2/ interpretable range CS1>95%
  CFHR5	95.00	0	NM_030787.3/ interpretable range CS1>95%
  CFI	95.00	0	NM_000204.4/ interpretable range CS1>95%
  CFP	95.00	0	NM_002621.2/ interpretable range CS1>95%
  CFTR	95.00	0	NM_000492.3/ interpretable range CS1>95%
  CHD7	95.00	0	NM_017780.3/ interpretable range CS1>95%
  CHUK	95.00	0	NM_001278.4/ interpretable range CS1>95%
  CIB1	95.00	0	NM_006384.3/ interpretable range CS1>95%
  CIITA	95.00	0	NM_000246.3/ interpretable range CS1>95%
  CLCN7	95.00	0	NM_001287.5/ interpretable range CS1>95%
  CLPB	95.00	0	NM_030813.5/ interpretable range CS1>95%
  COPA	95.00	0	NM_004371.3/ interpretable range CS1>95%
  COPG1	95.00	0	NM_016128.3/ interpretable range CS1>95%
  CORO1A	95.00	0	NM_007074.3/ interpretable range CS1>95%
  CR2	95.00	0	NM_001006658.2/ interpretable range CS1>95%
  CRACR2A	95.00	0	NM_001144958.1/ interpretable range CS1>95%
  CSF2RB	95.00	0	NM_000395.2/ interpretable range CS1>95%
  CSF3R	95.00	0	NM_000760.3/ interpretable range CS1>95%
  CTC1	95.00	0	NM_025099.5/ interpretable range CS1>95%
  CTLA4	95.00	0	NM_005214.4/ interpretable range CS1>95%
  CTNNBL1	95.00	0	NM_030877.4/ interpretable range CS1>95%
  CTPS1	95.00	0	NM_001905.3/ interpretable range CS1>95%
  CTSC	95.00	0	NM_001814.5/ interpretable range CS1>95%
  CXCR2	95.00	0	NM_001557.3/ interpretable range CS1>95%
  CXCR4	95.00	0	NM_003467.2/ interpretable range CS1>95%
  CYBA	95.00	0	NM_000101.3/ interpretable range CS1>95%
  CYBB	95.00	1	NM_000397.3/ interpretable range CS1>95%
  CYBC1	95.00	0	NM_001033046.3/ interpretable range CS1>95%
  DBR1	95.00	0	NM_016216.3/ interpretable range CS1>95%
  DCLRE1B	95.00	0	NM_022836.3/ interpretable range CS1>95%
  DCLRE1C	95.00	0	NM_001033855.2/ interpretable range CS1>95%
  DEF6	95.00	0	NM_022047.3/ interpretable range CS1>95%
  DGAT1	95.00	0	NM_012079.5/ interpretable range CS1>95%
  DIAPH1	95.00	0	NM_005219.4/ interpretable range CS1>95%
  DKC1	95.00	0	NM_001363.4/ interpretable range CS1>95%
  DNAJC21	95.00	0	NM_001012339.3/ interpretable range CS1>95%
  DNASE1	95.00	0	NM_005223.3/ interpretable range CS1>95%
  DNASE1L3	95.00	0	NM_004944.3/ interpretable range CS1>95%
  DNASE2	95.00	0	NM_001375.2/ interpretable range CS1>95%
  DNMT3B	95.00	0	NM_006892.3/ interpretable range CS1>95%
  DOCK2	95.00	0	NM_004946.2/ interpretable range CS1>95%
  DOCK8	95.00	0	NM_203447.3/ interpretable range CS1>95%
  DSG1	95.00	0	NM_001942.3/ interpretable range CS1>95%
  DTNBP1	95.00	0	NM_032122.4/ interpretable range CS1>95%
  EFL1	95.00	0	NM_024580.5/ interpretable range CS1>95%
  ELANE	95.00	0	NM_001972.3/ interpretable range CS1>95%
  ELF4	95.00	0	NM_001421.3/ interpretable range CS1>95%
  EPG5	95.00	0	NM_020964.2/ interpretable range CS1>95%
  ERBIN	95.00	0	NM_001253697.1/ interpretable range CS1>95%
  EXTL3	95.00	0	NM_001440.3/ interpretable range CS1>95%
  FADD	95.00	0	NM_003824.3/ interpretable range CS1>95%
  FAS	95.00	0	NM_000043.5/ interpretable range CS1>95%
  FASLG	95.00	0	NM_000639.2/ interpretable range CS1>95%
  FAT4	95.00	0	NM_024582.4/ interpretable range CS1>95%
  FCGR3A	95.00	0	NM_000569.7/ interpretable range CS1>95%
  FCHO1	95.00	0	NM_015122.2/ interpretable range CS1>95%
  FCN3	95.00	0	NM_003665.3/ interpretable range CS1>95%
  FERMT1	95.00	0	NM_017671.4/ interpretable range CS1>95%
  FERMT3	95.00	0	NM_031471.5/ interpretable range CS1>95%
  FNIP1	95.00	0	NM_133372.2/ interpretable range CS1>95%
  FOXN1	95.00	0	NM_003593.2/ interpretable range CS1>95%
  FOXP3	95.00	0	NM_014009.3/ interpretable range CS1>95%
  G6PC3	95.00	0	NM_138387.3/ interpretable range CS1>95%
  G6PD	95.00	0	NM_001042351.2/ interpretable range CS1>95%
  GATA2	95.00	1	NM_032638.4/ interpretable range CS1>95%
  GFI1	95.00	0	NM_005263.4/ interpretable range CS1>95%
  GIMAP5	95.00	0	NM_018384.4/ interpretable range CS1>95%
  GIMAP6	95.00	0	NM_001244072.1/ interpretable range CS1>95%
  GINS1	95.00	0	NM_021067.4/ interpretable range CS1>95%
  GUCY2C	95.00	0	NM_004963.3/ interpretable range CS1>95%
  HAVCR2	95.00	0	NM_032782.4/ interpretable range CS1>95%
  HAX1	95.00	0	NM_006118.3/ interpretable range CS1>95%
  HCK	95.00	0	NM_002110.3/ interpretable range CS1>95%
  HELLS	95.00	0	NM_018063.4/ interpretable range CS1>95%
  HTRA2	95.00	0	NM_013247.4/ interpretable range CS1>95%
  HYOU1	95.00	0	NM_006389.4/ interpretable range CS1>95%
  ICOS	95.00	0	NM_012092.3/ interpretable range CS1>95%
  IFIH1	95.00	0	NM_022168.3/ interpretable range CS1>95%
  IFNAR1	95.00	0	NM_000629.2/ interpretable range CS1>95%
  IFNAR2	95.00	0	NM_207585.2/ interpretable range CS1>95%
  IFNG	95.00	0	NM_000619.2/ interpretable range CS1>95%
  IFNGR1	95.00	0	NM_000416.2/ interpretable range CS1>95%
  IFNGR2	95.00	0	NM_005534.3/ interpretable range CS1>95%
  IGLL1	95.00	0	NM_020070.3/ interpretable range CS1>95%
  IKBKB	95.00	0	NM_001556.2/ interpretable range CS1>95%
  IKBKG	95.00	0	NM_001099857.2/ interpretable range CS1>95%
  IKZF1	95.00	0	NM_006060.6/ interpretable range CS1>95%
  IKZF2	95.00	0	NM_001079526.1/ interpretable range CS1>95%
  IKZF3	95.00	0	NM_012481.4/ interpretable range CS1>95%
  IL10	95.00	0	NM_000572.2/ interpretable range CS1>95%
  IL10RA	95.00	0	NM_001558.3/ interpretable range CS1>95%
  IL10RB	95.00	0	NM_000628.4/ interpretable range CS1>95%
  IL12B	95.00	0	NM_002187.2/ interpretable range CS1>95%
  IL12RB1	95.00	0	NM_005535.2/ interpretable range CS1>95%
  IL12RB2	95.00	0	NM_001559.2/ interpretable range CS1>95%
  IL17F	95.00	0	NM_052872.3/ interpretable range CS1>95%
  IL17RA	95.00	0	NM_014339.6/ interpretable range CS1>95%
  IL17RC	95.00	0	NM_153461.3/ interpretable range CS1>95%
  IL18BP	95.00	0	NM_173042.2/ interpretable range CS1>95%
  IL1RN	95.00	0	NM_173841.2/ interpretable range CS1>95%
  IL21	95.00	0	NM_021803.3/ interpretable range CS1>95%
  IL21R	95.00	0	NM_021798.3/ interpretable range CS1>95%
  IL23R	95.00	0	NM_144701.2/ interpretable range CS1>95%
  IL2RA	95.00	0	NM_000417.2/ interpretable range CS1>95%
  IL2RB	95.00	0	NM_000878.4/ interpretable range CS1>95%
  IL2RG	95.00	0	NM_000206.2/ interpretable range CS1>95%
  IL36RN	95.00	0	NM_012275.2/ interpretable range CS1>95%
  IL37	95.00	0	NM_014439.3/ interpretable range CS1>95%
  IL6R	95.00	0	NM_000565.3/ interpretable range CS1>95%
  IL6ST	95.00	0	NM_002184.3/ interpretable range CS1>95%
  IL7	95.00	0	NM_000880.3/ interpretable range CS1>95%
  IL7R	95.00	0	NM_002185.4/ interpretable range CS1>95%
  INO80	95.00	0	NM_017553.2/ interpretable range CS1>95%
  IRAK1	95.00	0	NM_001569.3/ interpretable range CS1>95%
  IRAK4	95.00	0	NM_016123.3/ interpretable range CS1>95%
  IRF2BP2	95.00	0	NM_182972.2/ interpretable range CS1>95%
  IRF3	95.00	0	NM_001571.5/ interpretable range CS1>95%
  IRF4	95.00	0	NM_002460.3/ interpretable range CS1>95%
  IRF7	95.00	0	NM_004031.2/ interpretable range CS1>95%
  IRF8	95.00	0	NM_002163.2/ interpretable range CS1>95%
  IRF9	95.00	0	NM_006084.4/ interpretable range CS1>95%
  ISG15	95.00	0	NM_005101.3/ interpretable range CS1>95%
  ITCH	95.00	0	NM_031483.6/ interpretable range CS1>95%
  ITGB2	95.00	0	NM_000211.4/ interpretable range CS1>95%
  ITK	95.00	0	NM_005546.3/ interpretable range CS1>95%
  ITPKB	95.00	0	NM_002221.3/ interpretable range CS1>95%
  ITPKC	95.00	0	NM_025194.2/ interpretable range CS1>95%
  ITPR3	95.00	0	NM_002224.3/ interpretable range CS1>95%
  JAGN1	95.00	0	NM_032492.3/ interpretable range CS1>95%
  JAK1	95.00	0	NM_002227.3/ interpretable range CS1>95%
  JAK3	95.00	0	NM_000215.3/ interpretable range CS1>95%
  KARS1	95.00	0	NM_001130089.1/ interpretable range CS1>95%
  KMT2A	95.00	0	NM_001197104.1/ interpretable range CS1>95%
  KMT2D	95.00	0	NM_003482.3/ interpretable range CS1>95%
  KPNA2	95.00	0	NM_001320611.1/ interpretable range CS1>95%
  KRAS	95.00	0	NM_004985.4/ interpretable range CS1>95%
  LACC1	95.00	0	NM_001128303.2/ interpretable range CS1>95%
  LAMTOR2	95.00	0	NM_014017.3/ interpretable range CS1>95%
  LAT	95.00	0	NM_001014987.1/ interpretable range CS1>95%
  LCK	95.00	0	NM_001042771.2/ interpretable range CS1>95%
  LCP2	95.00	0	NM_005565.4/ interpretable range CS1>95%
  LIG1	95.00	0	NM_000234.2/ interpretable range CS1>95%
  LIG4	95.00	0	NM_002312.3/ interpretable range CS1>95%
  LPIN2	95.00	0	NM_014646.2/ interpretable range CS1>95%
  LRBA	95.00	0	NM_006726.4/ interpretable range CS1>95%
  LRRC32	95.00	0	NM_005512.2/ interpretable range CS1>95%
  LRRC8A	95.00	0	NM_019594.3/ interpretable range CS1>95%
  LSM11	95.00	0	NM_173491.3/ interpretable range CS1>95%
  LYST	95.00	0	NM_000081.3/ interpretable range CS1>95%
  MAGT1	95.00	0	NM_032121.5/ interpretable range CS1>95%
  MALT1	95.00	0	NM_006785.3/ interpretable range CS1>95%
  MAN2B2	95.00	0	NM_015274.2/ interpretable range CS1>95%
  MAP1LC3B2	95.00	0	NM_001085481.2/ interpretable range CS1>95%
  MAP3K14	95.00	0	NM_003954.4/ interpretable range CS1>95%
  MAPK8	95.00	0	NM_139049.3/ interpretable range CS1>95%
  MASP2	95.00	0	NM_006610.3/ interpretable range CS1>95%
  MBL2	95.00	0	NM_000242.2/ interpretable range CS1>95%
  MCM10	95.00	0	NM_182751.2/ interpretable range CS1>95%
  MCM4	95.00	0	NM_005914.3/ interpretable range CS1>95%
  MEFV	95.00	0	NM_000243.2/ interpretable range CS1>95%
  MOGS	95.00	0	NM_020831.4/ interpretable range CS1>95%
  MPO	95.00	0	NM_006302.2/ interpretable range CS1>95%
  MRTFA	95.00	0	NM_000250.1/ interpretable range CS1>95%
  MS4A1	95.00	0	NM_152866.2/ interpretable range CS1>95%
  MSN	95.00	0	NM_002444.2/ interpretable range CS1>95%
  MTHFD1	95.00	0	NM_005956.3/ interpretable range CS1>95%
  MVK	95.00	0	NM_000431.3/ interpretable range CS1>95%
  MYD88	95.00	0	NM_002468.4/ interpretable range CS1>95%
  MYO5B	95.00	0	NM_001080467.2/ interpretable range CS1>95%
  MYSM1	95.00	0	NM_001085487.2/ interpretable range CS1>95%
  NBAS	95.00	0	NM_015909.3/ interpretable range CS1>95%
  NCF1	95.00	0	NM_000265.5/ interpretable range CS1>95%
  NCF2	95.00	0	NM_000433.3/ interpretable range CS1>95%
  NCF4	95.00	0	NM_013416.3/ interpretable range CS1>95%
  NCKAP1	95.00	0	NM_205842.2/ interpretable range CS1>95%
  NCKAP1L	95.00	0	NM_005337.4/ interpretable range CS1>95%
  NCSTN	95.00	0	NM_015331.2/ interpretable range CS1>95%
  NFAT5	95.00	0	NM_138714.3/ interpretable range CS1>95%
  NFE2L2	95.00	0	NM_006164.4/ interpretable range CS1>95%
  NFKB1	95.00	0	NM_003998.3/ interpretable range CS1>95%
  NFKB2	95.00	0	NM_001077494.3/ interpretable range CS1>95%
  NFKBIA	95.00	0	NM_020529.2/ interpretable range CS1>95%
  NHEJ1	95.00	0	NM_024782.2/ interpretable range CS1>95%
  NHP2	95.00	0	NM_017838.3/ interpretable range CS1>95%
  NLRC4	95.00	0	NM_021209.4/ interpretable range CS1>95%
  NLRP1	95.00	0	NM_033004.3/ interpretable range CS1>95%
  NLRP12	95.00	0	NM_144687.3/ interpretable range CS1>95%
  NLRP3	95.00	0	NM_004895.4/ interpretable range CS1>95%
  NOD2	95.00	0	NM_022162.2/ interpretable range CS1>95%
  NOP10	95.00	0	NM_018648.3/ interpretable range CS1>95%
  NOS2	95.00	0	NM_000625.4/ interpretable range CS1>95%
  NRAS	95.00	0	NM_002524.4/ interpretable range CS1>95%
  NSMCE3	95.00	0	NM_138704.3/ interpretable range CS1>95%
  OAS1	95.00	0	NM_032790.3/ interpretable range CS1>95%
  ORAI1	95.00	0	NM_014028.3/ interpretable range CS1>95%
  OSTM1	95.00	0	NM_138348.5/ interpretable range CS1>95%
  OTULIN	95.00	0	NM_002582.3/ interpretable range CS1>95%
  PARN	95.00	0	NM_006192.4/ interpretable range CS1>95%
  PAX1	95.00	0	NM_005018.2/ interpretable range CS1>95%
  PDCD1	95.00	0	NM_000285.3/ interpretable range CS1>95%
  PEPD	95.00	0	NM_001199917.1/ interpretable range CS1>95%
  PGM3	95.00	0	NM_058004.3/ interpretable range CS1>95%
  PI4KA	95.00	0	NM_005026.4/ interpretable range CS1>95%
  PIK3CD	95.00	0	NM_002649.3/ interpretable range CS1>95%
  PIK3CG	95.00	0	NM_181523.2/ interpretable range CS1>95%
  PIK3R1	95.00	0	NM_002661.4/ interpretable range CS1>95%
  PLCG2	95.00	0	NM_014798.2/ interpretable range CS1>95%
  PLEKHM1	95.00	0	NM_000535.6/ interpretable range CS1>95%
  PMS2	95.00	0	NM_016937.3/ interpretable range CS1>95%
  PNP	95.00	0	NM_002691.3/ interpretable range CS1>95%
  POLA1	95.00	0	NM_006230.3/ interpretable range CS1>95%
  POLD1	95.00	0	NM_006231.3/ interpretable range CS1>95%
  POLD2	95.00	0	NM_002692.3/ interpretable range CS1>95%
  POLE	95.00	0	NM_007055.3/ interpretable range CS1>95%
  POLE2	95.00	0	NM_001303456.1/ interpretable range CS1>95%
  POLR3A	95.00	0	NM_001282526.1/ interpretable range CS1>95%
  POLR3C	95.00	0	NM_015932.5/ interpretable range CS1>95%
  POLR3E	95.00	0	NM_006235.2/ interpretable range CS1>95%
  POLR3F	95.00	0	NM_001083116.2/ interpretable range CS1>95%
  POMP	95.00	0	NM_015932.6/ interpretable range CS1>95%
  POU2AF1	95.00	0	NM_006254.3/ interpretable range CS1>95%
  PRF1	95.00	0	NM_006904.6/ interpretable range CS1>95%
  PRKCD	95.00	0	NM_172341.3/ interpretable range CS1>95%
  PRKDC	95.00	0	NM_002788.3/ interpretable range CS1>95%
  PSENEN	95.00	0	NM_002801.3/ interpretable range CS1>95%
  PSMA3	95.00	0	NM_002796.2/ interpretable range CS1>95%
  PSMB10	95.00	0	NM_148919.3/ interpretable range CS1>95%
  PSMB4	95.00	0	NM_002800.4/ interpretable range CS1>95%
  PSMB8	95.00	0	NM_147163.1/ interpretable range CS1>95%
  PSMB9	95.00	0	NM_003978.4/ interpretable range CS1>95%
  PSMG2	95.00	0	NM_000314.6/ interpretable range CS1>95%
  PSTPIP1	95.00	0	NM_002828.3/ interpretable range CS1>95%
  PTEN	95.00	0	NM_002838.4/ interpretable range CS1>95%
  PTPN2	95.00	0	NM_004580.4/ interpretable range CS1>95%
  PTPRC	95.00	0	NM_002872.4/ interpretable range CS1>95%
  RAB27A	95.00	0	NM_000448.2/ interpretable range CS1>95%
  RAC2	95.00	0	NM_000536.3/ interpretable range CS1>95%
  RAG1	95.00	0	NM_006267.4/ interpretable range CS1>95%
  RAG2	95.00	0	NM_005739.3/ interpretable range CS1>95%
  RANBP2	95.00	0	NM_031229.3/ interpretable range CS1>95%
  RASGRP1	95.00	0	NM_172071.3/ interpretable range CS1>95%
  RBCK1	95.00	0	NM_004260.3/ interpretable range CS1>95%
  RC3H1	95.00	0	NM_002908.3/ interpretable range CS1>95%
  RECQL4	95.00	0	NM_021975.3/ interpretable range CS1>95%
  REL	95.00	0	NM_006509.3/ interpretable range CS1>95%
  RELA	95.00	0	NM_000449.3/ interpretable range CS1>95%
  RELB	95.00	0	NM_003721.3/ interpretable range CS1>95%
  RFX5	95.00	0	NM_000538.3/ interpretable range CS1>95%
  RFXANK	95.00	0	NM_001665.3/ interpretable range CS1>95%
  RFXAP	95.00	0	NM_004310.4/ interpretable range CS1>95%
  RHOG	95.00	0	NM_003804.5/ interpretable range CS1>95%
  RHOH	95.00	0	NM_006397.2/ interpretable range CS1>95%
  RIGI	95.00	0	NM_014314.4/ interpretable range CS1>95%
  RIPK1	95.00	0	NM_024570.3/ interpretable range CS1>95%
  RNASEH2A	95.00	0	NM_032193.3/ interpretable range CS1>95%
  RNASEH2B	95.00	0	NM_152617.3/ interpretable range CS1>95%
  RNASEH2C	95.00	0	NM_017999.4/ interpretable range CS1>95%
  RNF168	95.00	0	NM_005060.3/ interpretable range CS1>95%
  RNF31	95.00	0	NM_002945.4/ interpretable range CS1>95%
  RORC	95.00	0	NM_002295.5/ interpretable range CS1>95%
  RPA1	95.00	0	NM_002945.5/ interpretable range CS1>95%
  RPSA	95.00	0	NM_032957.4/ interpretable range CS1>95%
  RTEL1	95.00	0	NM_017654.3/ interpretable range CS1>95%
  SAMD9	95.00	0	NM_152703.4/ interpretable range CS1>95%
  SAMD9L	95.00	0	NM_015474.3/ interpretable range CS1>95%
  SAMHD1	95.00	0	NM_018990.3/ interpretable range CS1>95%
  SASH3	95.00	0	NM_016038.3/ interpretable range CS1>95%
  SBDS	95.00	0	NM_013336.3/ interpretable range CS1>95%
  SEC61A1	95.00	0	NM_006378.3/ interpretable range CS1>95%
  SEMA4D	95.00	0	NM_000062.2/ interpretable range CS1>95%
  SERPING1	95.00	1	NM_002351.4/ interpretable range CS1>95%
  SH2D1A	95.00	0	NM_031892.2/ interpretable range CS1>95%
  SH3KBP1	95.00	0	NM_006929.4/ interpretable range CS1>95%
  SKIC2	95.00	0	NM_006929.5/ interpretable range CS1>95%
  SKIC3	95.00	0	NM_014639.4/ interpretable range CS1>95%
  SLC11A1	95.00	0	NM_018344.5/ interpretable range CS1>95%
  SLC29A3	95.00	0	NM_018389.4/ interpretable range CS1>95%
  SLC35C1	95.00	0	NM_001164277.1/ interpretable range CS1>95%
  SLC37A4	95.00	0	NM_006979.2/ interpretable range CS1>95%
  SLC39A7	95.00	0	NM_080669.5/ interpretable range CS1>95%
  SLC46A1	95.00	0	NM_001126106.2/ interpretable range CS1>95%
  SLC7A7	95.00	0	NM_014140.3/ interpretable range CS1>95%
  SMARCAL1	95.00	0	NM_001098426.1/ interpretable range CS1>95%
  SMARCD2	95.00	0	NR_002967.1/ interpretable range CS1>95%
  SNORA31	95.00	0	NM_001199835.1/ interpretable range CS1>95%
  SNX10	95.00	0	NM_003745.1/ interpretable range CS1>95%
  SOCS1	95.00	0	NM_004509.3/ interpretable range CS1>95%
  SP110	95.00	0	NM_004509.5/ interpretable range CS1>95%
  SPI1	95.00	0	NM_001080547.1/ interpretable range CS1>95%
  SPINK5	95.00	0	NM_006846.3/ interpretable range CS1>95%
  SPPL2A	95.00	0	NM_032802.3/ interpretable range CS1>95%
  SRP54	95.00	0	NM_003136.3/ interpretable range CS1>95%
  STAT1	95.00	0	NM_007315.3/ interpretable range CS1>95%
  STAT2	95.00	0	NM_005419.3/ interpretable range CS1>95%
  STAT3	95.00	0	NM_139276.2/ interpretable range CS1>95%
  STAT4	95.00	0	NM_003151.3/ interpretable range CS1>95%
  STAT5B	95.00	0	NM_012448.3/ interpretable range CS1>95%
  STIM1	95.00	0	NM_003156.3/ interpretable range CS1>95%
  STING1	95.00	0	NM_006282.4/ interpretable range CS1>95%
  STK4	95.00	0	NM_024928.4/ interpretable range CS1>95%
  STN1	95.00	0	NM_003764.3/ interpretable range CS1>95%
  STX11	95.00	0	NM_006949.3/ interpretable range CS1>95%
  STXBP2	95.00	0	NM_007269.3/ interpretable range CS1>95%
  STXBP3	95.00	0	NM_003177.6/ interpretable range CS1>95%
  SYK	95.00	0	NM_000593.5/ interpretable range CS1>95%
  TAFAZZIN	95.00	0	NM_000116.5/ interpretable range CS1>95%
  TAP1	95.00	0	NM_001290043.1/ interpretable range CS1>95%
  TAP2	95.00	0	NM_003190.4/ interpretable range CS1>95%
  TAPBP	95.00	0	NM_000116.4/ interpretable range CS1>95%
  TBK1	95.00	0	NM_013254.3/ interpretable range CS1>95%
  TBX1	95.00	0	NM_080647.1/ interpretable range CS1>95%
  TBX21	95.00	0	NM_013351.1/ interpretable range CS1>95%
  TCF3	95.00	0	NM_003200.4/ interpretable range CS1>95%
  TCIRG1	95.00	0	NM_006019.3/ interpretable range CS1>95%
  TCN2	95.00	0	NM_000355.3/ interpretable range CS1>95%
  TERT	95.00	0	NM_198253.2/ interpretable range CS1>95%
  TET2	95.00	0	NM_001127208.2/ interpretable range CS1>95%
  TFRC	95.00	0	NM_003234.3/ interpretable range CS1>95%
  TGFB1	95.00	0	NM_000660.6/ interpretable range CS1>95%
  TGFBR1	95.00	0	NM_004612.3/ interpretable range CS1>95%
  TGFBR2	95.00	0	NM_003242.5/ interpretable range CS1>95%
  THBD	95.00	0	NM_000361.2/ interpretable range CS1>95%
  TICAM1	95.00	0	NM_182919.3/ interpretable range CS1>95%
  TINF2	95.00	0	NM_001099274.1/ interpretable range CS1>95%
  TLR3	95.00	0	NM_003265.2/ interpretable range CS1>95%
  TLR7	95.00	0	NM_016562.3/ interpretable range CS1>95%
  TLR8	95.00	0	NM_138636.5/ interpretable range CS1>95%
  TMC6	95.00	0	NM_007267.7/ interpretable range CS1>95%
  TMC8	95.00	0	NM_152468.4/ interpretable range CS1>95%
  TNFAIP3	95.00	0	NM_198282.3/ interpretable range CS1>95%
  TNFRSF11A	95.00	0	NM_006290.3/ interpretable range CS1>95%
  TNFRSF13B	95.00	0	NM_003839.3/ interpretable range CS1>95%
  TNFRSF13C	95.00	0	NM_012452.2/ interpretable range CS1>95%
  TNFRSF1A	95.00	0	NM_052945.3/ interpretable range CS1>95%
  TNFRSF4	95.00	0	NM_001065.3/ interpretable range CS1>95%
  TNFRSF9	95.00	0	NM_003327.3/ interpretable range CS1>95%
  TNFSF11	95.00	0	NM_001561.5/ interpretable range CS1>95%
  TNFSF12	95.00	0	NM_003701.3/ interpretable range CS1>95%
  TNFSF13	95.00	0	NM_003809.2/ interpretable range CS1>95%
  TOP2B	95.00	0	NM_003808.3/ interpretable range CS1>95%
  TPP2	95.00	0	NM_001068.3/ interpretable range CS1>95%
  TRAF3	95.00	0	NM_003291.3/ interpretable range CS1>95%
  TRAF3IP2	95.00	0	NM_003300.3/ interpretable range CS1>95%
  TREX1	95.00	0	NM_147686.3/ interpretable range CS1>95%
  TRIM22	95.00	0	NM_033629.5/ interpretable range CS1>95%
  TRNT1	95.00	0	NM_006074.4/ interpretable range CS1>95%
  TTC7A	95.00	0	NM_014639.3/ interpretable range CS1>95%
  TYK2	95.00	0	NM_020458.3/ interpretable range CS1>95%
  UBA1	95.00	0	NM_003331.4/ interpretable range CS1>95%
  UNC13D	95.00	0	NM_003334.3/ interpretable range CS1>95%
  UNC93B1	95.00	0	NM_199242.2/ interpretable range CS1>95%
  UNG	95.00	0	NM_030930.3/ interpretable range CS1>95%
  USB1	95.00	0	NM_080911.2/ interpretable range CS1>95%
  USP18	95.00	0	NM_024598.3/ interpretable range CS1>95%
  VPS13B	95.00	0	NM_017414.3/ interpretable range CS1>95%
  VPS45	95.00	0	NM_017890.4/ interpretable range CS1>95%
  WAS	95.00	0	NM_007259.5/ interpretable range CS1>95%
  WDR1	95.00	0	NM_000377.2/ interpretable range CS1>95%
  WIPF1	95.00	0	NM_017491.4/ interpretable range CS1>95%
  WRAP53	95.00	0	NM_001077269.1/ interpretable range CS1>95%
  XIAP	95.00	1	NM_001167.3/ interpretable range CS1>95%
  ZAP70	95.00	0	NM_001079.3/ interpretable range CS1>95%
  ZBTB24	95.00	0	NM_014797.2/ interpretable range CS1>95%
  ZNF341	95.00	0	NM_032819.4/ interpretable range CS1>95%
  ZNFX1	95.00	0	NM_021035.2/ interpretable range CS1>95%

• 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

• Pulmonary/Bronchiectasies (5 genes) - IPG
  Details

  Gene	% of coding sequence sufficiently covered to detect heterozygous mutations	Copy number variation	Comments
  CFTR	100.00	1	NM_000492.4
  SCNN1A	100.00	1	NM_001038.6
  SCNN1B	100.00	1	NM_000336.3
  SCNN1G	100.00	1	NM_001039.4
  SERPINA1	100.00	1	NM_000295.5