RSPH4A

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Name:	radial spoke head component 4A
Symbol:	RSPH4A
Version of Orphanet:	2023-06-22 14:14:43
Synonyms:	CILD11 FLJ37974 RSPH6B dJ412I7.1
XREF(s):	Orphanet SwissProt Ensembl Genatlas HGNC OMIM
Created:	13 May 2019 - 01:01
Changed:	22 Jun 2023 - 16:14

Related Genetic Tests

• Ciliopathy (gene panel)
• Congenital malformation (gene panel - 1721 genes)
• Congenital structural heart defects (gene panel)
• Primary Ciliary Dyskinesia (gene panel)
• Primary ciliary dyskinesia (PCD) Heterotaxyies (gene panel)
• Respiratory disorders (gene panel): non-CF bronchiectasis; pulmonary hypertension; interstitial lung disease

Related Diseases

• Primary ciliary dyskinesia

Related Gene Panels

• Ciliopathy - UGent
  Details

  Gene	% of coding sequence sufficiently covered to detect heterozygous mutations	Copy number variation	Comments
  ACVR2B	99.99	0
  ADAMTS9	99.94	0
  AHI1	99.86	0
  ALMS1	99.90	0
  ANKS6	100.00	0
  ARL13B	99.53	0
  ARL3	99.98	0
  ARL6	99.90	0
  ARMC9	99.77	0
  B9D1	99.80	0
  B9D2	99.88	0
  BBIP1	99.99	0
  BBS1	100.00	0
  BBS10	99.98	0
  BBS12	100.00	0
  BBS2	99.90	0
  BBS4	99.88	0
  BBS5	99.00	0
  BBS7	99.42	0
  BBS9	99.75	0
  C2CD3	99.88	0
  CBY1	100.00	0
  CC2D2A	99.95	0
  CCDC103	99.68	0
  CCDC172	99.85	0
  CCDC28B	99.99	0
  CCDC32	99.97	0
  CCDC39	99.74	0
  CCDC40	100.00	0
  CCDC65	99.80	0
  CCDC96	100.00	0
  CCNO	100.00	0
  CENPF	99.97	0
  CEP104	99.99	0
  CEP120	99.90	0
  CEP164	99.99	0
  CEP290	98.10	0
  CEP295	99.94	0
  CEP41	99.99	0
  CEP55	99.92	0
  CEP83	98.68	0
  CFAP251	99.98	0
  CFAP298	99.96	0
  CFAP300	99.47	0
  CFAP410	100.00	0
  CFAP418	100.00	0
  CFAP44	99.75	0
  CFAP53	99.95	0
  CFAP69	99.09	0
  CFC1	21.93	0
  CILK1	99.69	0
  CPLANE1	99.81	0
  CRB2	99.95	0
  CSPP1	98.31	0
  DCDC2	99.96	0
  DDX59	99.67	0
  DEUP1	99.86	0
  DHCR7	99.97	0
  DLG5	99.91	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
  DNAH5	99.98	0
  DNAH8	99.84	0
  DNAI1	99.92	0
  DNAI2	99.86	0
  DNAJB13	99.91	0
  DNAH9	99.79	0
  DRC1	99.93	0
  DYNC2H1	99.66	0
  DYNC2I1	99.99	0
  DYNC2I2	99.98	0
  DYNC2LI1	99.94	0
  DYNLT2B	100.00	0
  EVC	99.95	0
  EVC2	99.97	0
  EXOC3L2	99.88	0
  EXOC6B	99.41	0
  EXOC8	99.99	0
  EXTL3	99.99	0
  FAM149B1	99.69	0
  FAM166B	99.99	0
  FOXF1	99.99	0
  FUZ	99.99	0
  GAS2L2	100.00	0
  GAS8	100.00	0
  GLI3	100.00	0
  GLIS2	100.00	0
  HNF1B	100.00	0
  HYDIN	81.28	0
  HYLS1	100.00	0
  IFT122	99.98	0
  IFT140	100.00	0
  IFT172	99.98	0
  IFT27	100.00	0
  IFT43	99.97	0
  IFT52	99.82	0
  IFT74	99.71	0
  IFT80	99.69	0
  IFT81	94.64	0
  INPP5E	99.85	0
  INTS13	98.20	0
  INTU	99.92	0
  INVS	99.94	0
  IQCB1	99.72	0
  IQCE	99.77	0
  KATNIP	99.13	0
  KCTD3	99.75	0
  KIAA0586	95.75	0
  KIAA0753	100.00	0
  KIF14	97.80	0
  KIF3B	99.99	0
  KIF7	100.00	0
  LBR	99.66	0
  LCA5	99.89	0
  LRRC34	99.52	0
  LRRC45	99.98	0
  LRRC56	99.98	0
  LZTFL1	100.00	0
  MAPKBP1	99.98	0
  MCIDAS	100.00	0
  MKKS	100.00	0
  MKS1	99.92	0
  MMP21	99.99	0
  MRE11	99.93	0
  NCAPG2	99.97	0
  NEK1	99.83	0
  NEK9	99.96	0
  NME5	99.81	0
  NME8	99.83	0
  NPHP1	99.05	0
  NPHP3	99.89	0
  NPHP4	99.98	0
  OCRL	99.89	0
  ODAD1	96.04	0
  ODAD2	98.19	0
  ODAD3	99.96	0
  ODAD4	99.85	0
  OFD1	99.68	0
  PDE6D	99.94	0
  PIBF1	99.90	0
  PIK3C2A	99.92	0
  PKD1	99.98	0
  PKD2	99.91	0
  PKHD1	99.95	0
  PMFBP1	99.89	0
  PMM2	99.93	0
  POC1A	99.98	0
  POC1B	100.00	0
  RAB28	99.97	0
  RPGR	94.45	0
  RPGRIP1L	96.35	0
  RSPH1	99.87	0
  RSPH3	99.94	0
  RSPH4A	99.95	0
  RSPH9	99.99	0
  SBDS	99.93	0
  SCLT1	95.17	0
  SCNM1	99.47	0
  SDCCAG8	100.00	0
  SLC30A7	94.71	0
  SPAG1	99.78	0
  STK36	99.98	0
  SUFU	100.00	0
  TBC1D32	99.75	0
  TCTN1	99.92	0
  TCTN2	99.99	0
  TCTN3	99.92	0
  TMEM107	100.00	0
  TMEM138	100.00	0
  TMEM17	99.96	0
  TMEM216	99.98	0
  TMEM218	99.94	0
  TMEM231	88.88	0
  TMEM237	99.30	0
  TMEM260	99.90	0
  TMEM67	99.69	0
  TOGARAM1	99.93	0
  TOPORS	99.99	0
  TRAF3IP1	99.96	0
  TRIM32	100.00	0
  TTC21B	99.50	0
  TTC23	99.87	0
  TTC26	99.97	0
  TTC6	99.77	0
  TTC8	99.67	0
  TUBGCP4	99.80	0
  TULP1	99.99	0
  TULP3	99.91	0
  TXNDC15	99.78	0
  VHL	100.00	0
  VPS13B	99.90	0
  WDPCP	99.87	0
  WDR19	99.80	0
  WDR35	99.92	0
  XPNPEP3	99.99	0
  ZFYVE19	99.99	0
  ZIC3	99.90	0
  ZMYND10	99.99	0
  ZNF423	98.94	0
  ZSWIM6	98.94	0

• 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 structural heart defects - UGent
  Details

  Gene	% of coding sequence sufficiently covered to detect heterozygous mutations	Copy number variation	Comments
  AATK	99.98	1
  ABL1	100.00	1
  ACAN	91.51	1
  ACTA1	99.99	1
  ACTB	100.00	1
  ACTC1	98.57	1
  ACTG1	100.00	1
  ACTN2	99.99	1
  ACVR1	99.94	1
  ACVR1B	99.99	1
  ACVR2A	99.15	1
  ACVR2B	99.99	1
  ACVRL1	99.88	1
  ADAMTS10	99.99	1
  ADNP	100.00	1
  AKAP12	100.00	1
  AKT1	100.00	1
  AKT2	99.85	1
  ALDH1A2	99.97	1
  ALX3	99.74	1
  ANKRD1	99.57	1
  ANKRD11	99.85	1
  AP1B1	99.99	1
  APAF1	98.70	1
  AR	99.76	1
  ARHGAP31	100.00	1
  ARID4A	99.90	1
  ATP2A2	99.98	1
  ATRX	99.44	1
  AXIN1	100.00	1
  BCOR	99.97	1
  BMP10	99.96	1
  BMP2	99.79	1
  BMP4	100.00	1
  BMP6	100.00	1
  BMP7	100.00	1
  BMPR1A	99.58	1
  BMPR2	99.95	1
  BRAF	99.78	1
  BRIP1	99.39	1
  BVES	99.83	1
  CASQ2	94.39	1
  CAV1	99.97	1
  CAV3	100.00	1
  CBL	99.95	1
  CCDC103	99.68	1
  CCDC39	99.74	1
  CCDC40	100.00	1
  CCDC65	99.80	1
  CCN1	99.99	1
  CCNO	100.00	1
  CD96	99.91	1
  CDK13	99.83	1
  CDK4	100.00	1
  CDX2	100.00	1
  CENPF	99.97	1
  CFAP53	99.95	1
  CFC1	21.93	1
  CHAC2	99.68	1
  CHD4	99.99	1
  CHD7	99.99	1
  CHD8	99.96	1
  CITED2	100.00	1
  COL1A1	99.90	1
  COL1A2	99.34	1
  COL2A1	99.87	1
  COX7B	99.86	1
  CREBBP	99.97	1
  CRELD1	99.99	1
  CRIP2	99.99	1
  CRYAB	100.00	1
  CSNK1D	99.99	1
  CSRP1	99.75	1
  CSRP3	100.00	1
  CTNNB1	99.95	1
  DDX3X	99.01	1
  DES	100.00	1
  DIAPH3	99.85	1
  DICER1	99.96	1
  DLGAP5	99.83	1
  DLL1	99.99	1
  DLL4	100.00	1
  DNAAF1	99.99	1
  DNAAF11	99.80	1
  DNAAF2	99.91	1
  DNAAF3	99.99	1
  DNAAF4	99.78	1
  DNAAF5	99.99	1
  DNAH11	99.93	1
  DNAH5	99.98	1
  DNAI1	99.92	1
  DNAI2	99.86	1
  DNAJB13	99.91	1
  DNAH9	99.79	1
  DRC1	99.93	1
  DSCAM	99.99	1
  DVL1	100.00	1
  DYRK1A	99.98	1
  E2F1	99.99	1
  ECE1	99.92	1
  EDNRA	99.97	1
  EFEMP2	99.94	1
  EFNB1	99.95	1
  EFTUD2	99.93	1
  EGFR	99.68	1
  EGR1	99.99	1
  EHMT1	98.38	1
  ELN	99.86	1
  ENG	100.00	1
  EOGT	99.09	1
  EP300	99.97	1
  EPHB2	99.86	1
  EPHB4	99.82	1
  ERBB2	99.98	1
  ERCC4	99.92	1
  ESR2	99.96	1
  ETS1	99.99	1
  EVC	99.95	1
  EVC2	99.97	1
  EWSR1	99.94	1
  EZH2	99.89	1
  F2R	99.98	1
  FABP3	99.87	1
  FADD	99.97	1
  FANCA	100.00	1
  FANCB	99.24	1
  FANCC	99.98	1
  FANCD2	99.86	1
  FANCE	99.99	1
  FANCF	100.00	1
  FANCG	100.00	1
  FANCI	99.96	1
  FANCL	99.67	1
  FBLN1	98.69	1
  FBLN7	99.95	1
  FBN1	99.85	1
  FBN2	99.90	1
  FGF10	99.95	1
  FGF8	100.00	1
  FGFR1	100.00	1
  FGFR2	99.99	1
  FGFR3	100.00	1
  FHL2	100.00	1
  FIBP	99.83	1
  FLII	100.00	1
  FLNA	99.99	1
  FLNC	99.99	1
  FLT1	99.99	1
  FLT4	97.93	1
  FN1	99.95	1
  FOXC1	100.00	1
  FOXC2	100.00	1
  FOXH1	100.00	1
  FOXK2	99.76	1
  FOXL1	100.00	1
  FOXL2	99.97	1
  FOXO1	100.00	1
  FOXP1	99.98	1
  FSCN2	100.00	1
  G6PC3	99.98	1
  GAS8	100.00	1
  GATA2	99.99	1
  GATA4	99.99	1
  GATA5	100.00	1
  GATA6	99.90	1
  GATAD2B	99.44	1
  GDF1	100.00	1
  GDF11	99.97	1
  GDF5	100.00	1
  GDNF	99.99	1
  GJA1	100.00	1
  GJA5	100.00	1
  GJD2	99.99	1
  GLB1	100.00	1
  GLI2	99.93	1
  GLI3	100.00	1
  GPC3	99.60	1
  GPC5	99.96	1
  GPC6	99.98	1
  GRK5	99.97	1
  GTF2I	47.18	1
  GTF2IRD1	99.77	1
  HAND1	99.99	1
  HAND2	99.97	1
  HDAC8	99.74	1
  HES4	100.00	1
  HEY2	99.75	1
  HIF1A	99.87	1
  HMGB2	99.99	1
  HNF1A	100.00	1
  HNF4A	100.00	1
  HOXA1	100.00	1
  HOXB2	99.99	1
  HRAS	100.00	1
  HSPB1	99.97	1
  HSPB8	100.00	1
  HSPG2	99.87	1
  HYDIN	81.28	1
  ID2	100.00	1
  IGF1R	100.00	1
  IGFBP4	99.85	1
  IKBKB	99.93	1
  ILK	100.00	1
  INHBA	99.98	1
  INHBC	99.99	1
  INPP5D	99.98	1
  INSR	99.99	1
  IRS1	100.00	1
  IRX4	99.99	1
  ISL1	99.99	1
  ITGAV	99.40	1
  ITGB1	99.96	1
  ITGB3	99.83	1
  ITGB4	99.99	1
  JAG1	100.00	1
  JAM3	100.00	1
  JUN	100.00	1
  KANSL1	99.85	1
  KAT6A	99.93	1
  KAT6B	99.79	1
  KDM3B	99.98	1
  KDM5A	99.90	1
  KDM5B	97.15	1
  KDM6A	99.74	1
  KDR	99.86	1
  KIT	99.86	1
  KMT2D	99.98	1
  KRAS	99.13	1
  KREMEN1	99.88	1
  LAMA2	99.95	1
  LAMA5	99.99	1
  LAMC1	99.55	1
  LBR	99.66	1
  LEFTY1	99.98	1
  LEFTY2	100.00	1
  LHX3	99.99	1
  LMNA	99.96	1
  LMX1B	100.00	1
  LRP2	99.86	1
  LTBP1	99.95	1
  LTBP3	99.96	1
  LZTR1	99.46	1
  MAFG	100.00	1
  MAP2K1	99.98	1
  MAP2K2	99.99	1
  MAPK14	99.95	1
  MCTP2	99.99	1
  MECOM	99.97	1
  MED13L	99.99	1
  MEF2C	99.57	1
  MEGF8	99.90	1
  MESP1	100.00	1
  MET	99.97	1
  METTL3	99.98	1
  MGP	99.95	1
  MID1	99.90	1
  MITF	99.98	1
  MMP2	99.96	1
  MMP21	99.99	1
  MSX1	100.00	1
  MTHFD1	100.00	1
  MTHFR	99.97	1
  MTRR	99.98	1
  MYBPC3	99.98	1
  MYC	100.00	1
  MYH10	99.91	1
  MYH11	99.16	1
  MYH6	100.00	1
  MYH7	99.99	1
  MYH9	99.95	1
  MYL2	99.99	1
  MYL3	99.99	1
  MYL7	99.95	1
  MYOCD	99.99	1
  MYOM1	99.98	1
  MYOZ2	99.99	1
  NF1	99.88	1
  NFATC1	100.00	1
  NFIX	99.99	1
  NFKB1	99.80	1
  NID2	99.97	1
  NIPBL	99.34	1
  NKX2-1	100.00	1
  NKX2-5	99.75	1
  NKX2-6	100.00	1
  NME8	99.83	1
  NNMT	100.00	1
  NODAL	99.98	1
  NONO	99.94	1
  NOS3	93.73	1
  NOTCH1	99.98	1
  NOTCH2	99.03	1
  NOTCH3	99.99	1
  NPHP3	99.89	1
  NPHP4	99.98	1
  NPPA	100.00	1
  NR2F2	100.00	1
  NR4A2	99.97	1
  NRAS	99.66	1
  NRP1	99.99	1
  NRP2	99.98	1
  NSD1	99.98	1
  ODAD1	96.04	1
  ODAD2	98.19	1
  ODAD3	99.96	1
  ODAD4	99.85	1
  OTX2	100.00	1
  PACS1	99.96	1
  PAX3	100.00	1
  PCSK5	99.97	1
  PDGFC	99.97	1
  PDGFRA	99.94	1
  PDGFRB	99.99	1
  PDHX	100.00	1
  PIGA	99.81	1
  PIGL	99.98	1
  PIGN	99.91	1
  PIGT	99.95	1
  PITX2	99.98	1
  PKD1L1	99.84	1
  PLAGL1	99.96	1
  PLAT	99.99	1
  POU5F1	100.00	1
  PPARG	99.96	1
  PPARGC1A	99.82	1
  PPP3CA	99.84	1
  PRKACA	99.95	1
  PRKD1	99.96	1
  PROX1	99.98	1
  PRRX1	99.56	1
  PSEN1	100.00	1
  PSEN2	99.97	1
  PTEN	99.89	1
  PTK2	99.97	1
  PTP4A3	99.99	1
  PTPN11	99.98	1
  PUF60	100.00	1
  RAB23	99.97	1
  RAD21	99.91	1
  RAD51C	99.02	1
  RAF1	99.97	1
  RAI1	99.22	1
  RAI2	99.98	1
  RARB	99.99	1
  RARG	99.98	1
  RB1	99.84	1
  RBBP7	99.87	1
  RBL2	99.44	1
  RBM10	99.98	1
  RBM8A	99.37	1
  RELA	99.99	1
  RERE	99.94	1
  RET	99.97	1
  RGS19	99.88	1
  RIT1	99.78	1
  RNF20	99.93	1
  ROR2	99.99	1
  RPGR	94.45	1
  RPL11	99.81	1
  RPL15	31.77	1
  RPL26	30.55	1
  RPL35A	97.55	1
  RPL5	28.81	1
  RPS10	0.00	1
  RPS17	100.00	1
  RPS19	100.00	1
  RPS24	91.48	1
  RPS26	8.99	1
  RPS28	100.00	1
  RPS29	99.96	1
  RPS7	88.50	1
  RSPH1	99.87	1
  RSPH3	99.94	1
  RSPH4A	99.95	1
  RSPH9	99.99	1
  RYR2	99.94	1
  SALL1	100.00	1
  SALL4	100.00	1
  SCN5A	100.00	1
  SESN1	99.95	1
  SF3B4	99.65	1
  SGCA	100.00	1
  SH3PXD2B	100.00	1
  SHH	100.00	1
  SHOC2	99.96	1
  HHAT	99.98	1
  SLC19A1	99.99	1
  SLC25A4	100.00	1
  SLC2A10	100.00	1
  SLX4	100.00	1
  SMAD2	99.92	1
  SMAD3	99.99	1
  SMAD4	99.97	1
  SMAD6	100.00	1
  SMARCE1	99.87	1
  SMC1A	99.98	1
  SMC3	99.91	1
  SMG9	99.99	1
  SOS1	99.68	1
  SOS2	99.39	1
  SOX2	100.00	1
  SOX4	99.36	1
  SP1	99.98	1
  SPAG1	99.78	1
  SPATC1L	99.99	1
  SPECC1L	99.98	1
  SRCAP	99.99	1
  SRF	99.99	1
  STAT3	99.97	1
  STRA6	99.95	1
  SUZ12	98.58	1
  TAB2	99.75	1
  TBX1	99.95	1
  TBX2	99.97	1
  TBX20	99.99	1
  TBX3	100.00	1
  TBX5	99.98	1
  TBX6	99.99	1
  TCAP	100.00	1
  TCF21	100.00	1
  TCF3	100.00	1
  TCN2	100.00	1
  CRIPTO	99.82	1
  TEAD1	99.97	1
  TEK	99.98	1
  TFAP2A	100.00	1
  TFAP2B	99.98	1
  TFAP2C	100.00	1
  TGFB1	100.00	1
  TGFB2	99.87	1
  TGFB3	100.00	1
  TGFBR1	99.94	1
  TGFBR2	99.98	1
  TGIF1	100.00	1
  THBS1	100.00	1
  THBS4	100.00	1
  THOC5	99.90	1
  THRB	99.82	1
  DDR2	97.39	1
  TLL1	99.94	1
  TNFRSF11A	100.00	1
  TNFRSF1A	100.00	1
  TNNI3	100.00	1
  TNNT2	99.87	1
  TNR	99.80	1
  TP53	99.98	1
  TP73	100.00	1
  TPM1	99.92	1
  TRPM2	99.99	1
  TSR2	99.96	1
  TTN	99.15	1
  TWIST1	100.00	1
  UBE2B	99.94	1
  UBE2T	99.89	1
  USP44	99.86	1
  USP9X	99.84	1
  VCAN	99.99	1
  VDR	99.86	1
  VEGFA	99.99	1
  VEGFC	99.96	1
  WASHC5	99.98	1
  WDR5	100.00	1
  WNT11	100.00	1
  WT1	99.99	1
  YY1	100.00	1
  ZEB2	99.97	1
  ZFHX3	99.96	1
  ZFPM2	100.00	1
  ZIC3	99.90	1
  ZMYND10	99.99	1

• 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

• Primary Ciliary Dyskinesia (70 genes) - KUL
  Details

  Gene	% of coding sequence sufficiently covered to detect heterozygous mutations	Copy number variation	Comments
  ODAD2	100.00	0	NM_018076.5
  CCDC103	100.00	0	NM_213607.3
  ODAD1	100.00	0	NM_144577.4
  ODAD3	100.00	0	NM_145045.5
  CCDC39	100.00	0	NM_181426.2
  CCDC40	100.00	0	NM_017950.4
  CCDC65	100.00	0	NM_033124.5
  CCNO	100.00	0	NM_021147.5
  CFAP251	100.00	0	NM_144668.6
  CFAP298	100.00	0	NM_021254.4
  CFAP300	100.00	0	NM_032930.3
  CFAP45	100.00	0	NM_012337.3
  CFAP53	100.00	0	NM_145020.5
  CFAP57	100.00	0	NM_152498.3
  CFAP74	100.00	0	NM_001304360.2
  DNAAF1	100.00	0	NM_178452.6
  DNAAF2	100.00	0	NM_018139.2
  DNAAF3	100.00	0	NM_001256714.1
  DNAAF4	100.00	0	NM_130810.4
  DNAAF5	100.00	0	NM_017802.4
  DNAAF6	100.00	0	NM_001169154.2
  DNAH11	100.00	0	NM_001277115.2
  DNAH17	100.00	0	NM_173628.4
  DNAH2	100.00	0	NM_020877.5
  DNAH5	100.00	0	NM_001369.3
  DNAH6	100.00	0	NM_001370.2
  DNAH8	100.00	0	NM_001206927.2
  DNAH9	100.00	0	NM_031427.4
  DNAI1	100.00	0	NM_012144.4
  DNAI2	100.00	0	NM_023036.5
  DNAJB13	100.00	0	NM_153614.4
  DRC1	100.00	0	NM_145038.5
  ENKUR	100.00	0	NM_145010.4
  FOXJ1	100.00	0	NM_001454.4
  GAS2L2	100.00	0	NM_139285.4
  GAS8	100.00	0	NM_001481.3
  HYDIN	100.00	0	NM_001270974.2
  LRRC56	100.00	0	NM_198075.4
  DNAAF11	100.00	0	NM_012472.6
  MCIDAS	100.00	0	NM_001190787.3
  MNS1	100.00	0	NM_018365.4
  NEK10	100.00	0	NM_199347.4
  NME5	100.00	0	NM_003551.3
  NME8	100.00	0	NM_016616.5
  OFD1	100.00	0	NM_003611.3
  RPGR	100.00	0	NM_000328.3
  RSPH1	100.00	0	NM_080860.4
  RSPH3	100.00	0	NM_031924.8
  RSPH4A	100.00	0	NM_001010892.3
  RSPH9	100.00	0	NM_152732.5
  SPAG1	100.00	0	NM_172218.3
  SPEF2	100.00	0	NM_024867.4
  STK36	100.00	0	NM_015690.5
  TEKT1	100.00	0	NM_053285.2
  TP73	100.00	0	NM_005427.4
  TTC12	100.00	0	NM_017868.4
  ODAD4	100.00	0	NM_031421.5
  ZMYND10	100.00	0	NM_015896.4
  CFAP221	100.00	0
  DNAL1	100.00	0	NM_031427.4
  DAW1	100.00	0	NM_178821.3
  AGR2	100.00	0	NM_006408.4
  BRWD1	100.00	0	NM_018963.5
  CFAP52	100.00	0	NM_145054.5
  CFAP54	100.00	1	NM_001306084.2
  CLXN	100.00	0	NM_024593.4
  DNAH10	100.00	1	NM_207437.3
  DNAH7	100.00	0	NM_018897.3
  IFT74	100.00	0	NM_025103.4

• Respiratory Disorders panel (137 genes) - Ugent
  Details

  Gene	% of coding sequence sufficiently covered to detect heterozygous mutations	Copy number variation	Comments
  ABCA3	99.96	1
  ABCC8	99.98	1
  ACVRL1	99.88	1
  AP3B1	99.89	1
  AQP1	99.99	1
  ARHGEF1	99.97	1
  ASAH1	99.90	1
  ASCL1	99.82	1
  ATP13A3	99.84	1
  ATP6AP1	100.00	1
  BDNF	100.00	1
  BLOC1S3	100.00	1
  BLOC1S6	99.98	1
  BMP10	99.96	1
  BMPR1B	99.61	1
  BMPR2	99.95	1
  CARD11	99.97	1
  CAV1	99.97	1
  CCDC39	99.74	1
  CCDC40	100.00	1
  CD19	99.98	1
  CD81	99.97	1
  CIITA	99.99	1
  CLEC1A	99.97	1
  CLEC7A	99.98	1
  COPA	99.61	1
  CR2	99.97	1
  CSF2RA	93.86	1
  CSF2RB	100.00	1
  CTLA4	99.99	1
  CTNNBL1	100.00	1
  DKC1	99.59	1
  DNAAF1	99.99	1
  DNAAF2	99.91	1
  DNAH11	99.93	1
  DNAH5	99.98	1
  DNAI1	99.92	1
  DNAI2	99.86	1
  DNAH9	99.79	1
  DOCK8	99.86	1
  DTNBP1	99.89	1
  EFEMP2	99.94	1
  EIF2AK4	99.97	1
  ELMOD2	99.80	1
  ELN	99.86	1
  ENG	100.00	1
  ERBIN	99.69	1
  FAM111B	99.98	1
  FARSA	100.00	1
  FARSB	99.64	1
  FBLN5	100.00	1
  FLNA	99.99	1
  FNIP1	99.87	1
  FOXF1	99.99	1
  FOXP3	99.93	1
  GARS1	99.93	1
  GATA2	99.99	1
  GBA1	96.92	1
  GDF2	100.00	1
  HPS1	100.00	1
  HPS3	99.91	1
  HPS4	99.98	1
  HPS5	99.91	1
  HPS6	100.00	1
  IKZF1	99.92	1
  IL6R	92.46	1
  IL6ST	99.88	1
  IRF2BP2	100.00	1
  ITCH	95.57	1
  ITGA3	99.86	1
  KCNA5	100.00	1
  KCNK3	100.00	1
  KDR	99.86	1
  LRBA	99.76	1
  LTBP4	99.99	1
  MARS1	99.97	1
  MOGS	100.00	1
  MS4A1	99.60	1
  MUC5B	99.94	1
  NFKB1	99.80	1
  NFKB2	99.98	1
  NKX2-1	100.00	1
  NME8	99.83	1
  NOD2	99.98	1
  NOTCH3	99.99	1
  NSMCE3	100.00	1
  OAS1	99.96	1
  PARN	99.75	1
  PGM3	99.94	1
  PIK3CD	99.99	1
  PIK3CG	99.72	1
  PIK3R1	99.86	1
  POU2AF1	99.43	1
  PTEN	99.89	1
  RAC2	99.99	1
  RFX5	99.88	1
  RFXANK	100.00	1
  RFXAP	99.98	1
  RGPD4	71.96	1
  RSPH4A	99.95	1
  RSPH9	99.99	1
  RTEL1	100.00	1
  SCNN1A	100.00	1
  SCNN1B	99.38	1
  SCNN1G	99.94	1
  SEC61A1	99.99	1
  SERPINA1	100.00	1
  SFTPA1	99.99	1
  SFTPA2	99.81	1
  SFTPB	99.99	1
  SFTPC	99.99	1
  SFTPD	99.62	1
  SH3KBP1	99.95	1
  SLC34A2	99.99	1
  SLC7A7	99.99	1
  SMAD4	99.97	1
  SMAD9	99.99	1
  SMPD1	100.00	1
  SOX17	100.00	1
  SPINK5	99.91	1
  STAT3	99.97	1
  STAT5B	99.50	1
  STING1	99.87	1
  TBX4	99.96	1
  TERC	98.59	1
  TERT	100.00	1
  TGFBR1	99.94	1
  TGFBR2	99.98	1
  TINF2	100.00	1
  TNFRSF13B	99.43	1
  TNFRSF13C	99.99	1
  TNFSF12	100.00	1
  TNFSF13	100.00	1
  TRNT1	99.97	1
  TSC1	99.99	1
  TSC2	99.98	1
  ZNF341	100.00	1