Variants from Diagnostic Laboratory, Department of Genetics, University Medical Center Groningen

Minimum submission review status:		Collection method:
Minimum conflict level: Report conflict between different conditions
Gene type: Distinguish antisense genes from sense genes
Show significances as they were submitted (without aggregation into standard terms)

If a variant has more than one submission, it may be counted in more than one significance column. If this is the case, the total number of variants will be less than the sum of the other cells.

pathogenic	likely pathogenic	uncertain significance	likely benign	benign	total
888	161	1167	2718	3595	8529

Gene and significance breakdown #

Total genes and gene combinations: 1870

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Gene or gene combination	pathogenic	likely pathogenic	uncertain significance	likely benign	benign	total
TTN	4	34	110	461	46	655
BRCA2	100	4	14	32	50	200
BRCA1	74	3	6	19	24	126
RYR2	2	0	18	71	18	109
MYBPC3	23	2	23	25	15	88
DSP	4	4	14	33	20	75
MYH6	0	0	19	46	8	73
MYH7	11	3	15	23	17	69
LDLR	32	5	1	10	14	62
SCN5A	5	0	11	40	4	60
DMD	1	0	5	38	15	59
CFTR	40	0	5	10	3	58
APOB	1	0	4	21	27	53
LAMA4	0	0	8	30	12	50
ATM	9	3	18	7	11	48
RBM20	2	1	7	30	5	45
SYNE1	0	0	11	14	19	44
MSH6	10	1	8	10	12	41
PKP2	9	0	10	13	4	36
ACTN2	0	0	7	22	6	35
PRDM16	0	0	15	20	0	35
CHEK2	5	4	19	4	1	33
LDB3	0	0	11	21	1	33
APC	7	0	1	16	8	32
ABCC9	0	0	4	21	6	31
MLH1	10	0	6	9	6	31
MYPN	0	0	8	20	3	31
ADGRV1	0	0	3	9	18	30
FRAS1	0	0	2	5	23	30
JUP	0	0	10	14	6	30
PMS2	9	0	1	6	14	30
VCL	0	0	11	17	2	30
DSG2	0	0	1	20	8	29
NPC1	5	0	1	12	10	28
LMNA	2	3	7	8	7	27
ATM, C11orf65	6	0	10	7	3	26
MSH2	9	1	3	5	8	26
PLEC	1	0	7	13	5	26
HCN4	2	0	10	11	2	25
LRP2	0	0	2	5	18	25
NF1	10	0	2	9	4	25
PCNT	1	0	0	9	15	25
VPS13A	0	0	1	18	6	25
BRCA1, LOC126862571	15	0	3	3	3	24
DES	1	2	7	7	7	24
DNAH5	0	0	3	0	21	24
BAG3	1	0	2	16	3	22
COL4A1	0	0	1	3	18	22
COL7A1	11	1	3	2	5	22
DSC2	0	2	7	8	5	22
SDHA	2	0	1	10	9	22
DTNA	0	0	6	14	1	21
POLG	5	0	3	13	0	21
JPH2	0	0	6	12	2	20
PALB2	6	0	2	9	3	20
SPTA1	0	0	0	0	20	20
TNNT2	3	1	5	8	3	20
ALMS1	1	0	0	1	17	19
ATP7B	2	0	2	7	8	19
NEXN	0	0	8	9	2	19
PCSK9	1	0	1	4	13	19
TSC2	3	0	2	10	4	19
ZNF469	0	0	0	0	19	19
DNAH11	1	0	0	0	17	18
LAMA2	1	0	2	3	12	18
PRKAG2	1	0	2	14	1	18
RAI1	0	0	0	8	10	18
CTNNA3	0	0	5	10	2	17
DOCK6	2	0	3	0	12	17
DYNC2H1	0	0	0	0	17	17
LAMC3	0	0	0	4	13	17
NOTCH1	0	0	3	7	7	17
RP1L1	0	0	0	0	17	17
TMEM43	0	0	1	13	3	17
COL4A2	0	1	2	2	11	16
FLNC	3	1	11	0	1	16
GAA	0	0	0	0	16	16
MECP2	6	0	2	7	1	16
ALPK3	2	0	7	5	1	15
ANO5	3	0	2	4	6	15
ASPM	0	0	0	1	14	15
CACNA1A	1	0	1	3	10	15
KCNT1	0	0	0	6	9	15
MYH3	1	0	1	0	13	15
MYO15A	0	0	0	0	15	15
SETX	0	0	1	3	11	15
TXNRD2	0	0	1	14	0	15
WFS1	0	0	4	2	9	15
ANKRD1	0	0	2	8	4	14
ATP13A2	0	0	0	9	5	14
CDH1	1	0	0	11	2	14
DHCR7	8	0	0	0	6	14
GALC	1	0	1	0	12	14
IDUA	2	0	1	1	10	14
MEFV	1	2	3	0	8	14
NBAS	0	0	2	2	10	14
OBSL1	0	0	0	0	14	14
OTOG	0	0	1	0	13	14
PAH	10	1	0	0	3	14
ABCA4	0	2	1	0	10	13
AKAP9	0	0	0	1	12	13
CSRP3	0	1	7	4	1	13
DOCK8	0	0	2	1	10	13
EVC	0	0	0	1	12	13
LOC126806422, TTN	0	1	3	9	0	13
MUTYH	6	0	0	3	4	13
PKHD1	2	0	2	3	6	13
RET	1	0	0	3	9	13
SPG11	0	0	4	5	4	13
TPM1	2	1	3	6	1	13
VWF	2	1	0	0	10	13
ARSA	6	0	0	0	6	12
FLNA	0	0	4	6	2	12
LOC126861897, MHRT, MYH7	0	1	5	4	2	12
SCN1A	3	0	1	5	3	12
SYNE2	0	0	0	3	9	12
TNNI3	3	1	1	3	4	12
ALK	0	0	0	2	9	11
ARID1B	2	1	0	5	3	11
CALR3	0	0	4	5	2	11
CCDC40	0	0	0	0	11	11
CCDST, FLG	4	0	0	3	4	11
COL11A2	0	0	1	0	10	11
COL2A1	2	0	0	0	9	11
F5	0	0	0	0	11	11
GRIN2B	2	0	0	5	4	11
HDAC4	0	0	2	5	4	11
KMT2D	0	0	2	8	1	11
LAMP2	1	0	0	9	1	11
NOTCH3	0	0	1	0	10	11
SACS	2	0	3	3	3	11
SCN1A, SCN9A	0	0	2	2	7	11
ACTC1, GJD2-DT	0	0	3	4	3	10
ADAMTS2	0	0	0	0	10	10
ATP1A3	1	1	0	6	2	10
AXIN2	0	0	1	6	3	10
CHD7	1	1	0	5	3	10
CLCNKB, LOC106501713	0	0	0	0	10	10
COL6A1	0	0	0	0	10	10
COL6A2	0	0	1	0	9	10
DYSF	0	0	0	0	10	10
FREM1	0	0	0	0	10	10
GLI2	0	0	0	4	6	10
LOC126806430, TTN	0	0	4	6	0	10
LOC126806432, TTN	0	0	0	10	0	10
MCPH1	0	0	0	0	10	10
MYLK	0	0	4	0	6	10
NOTCH2	0	0	0	7	3	10
PMM2	6	0	1	0	3	10
PSEN2	0	0	0	7	3	10
PTCH1	0	0	1	8	1	10
RYR1	0	0	2	1	7	10
SCN2A	2	0	1	2	5	10
SLC6A19	2	1	1	3	3	10
TSC1	2	0	0	5	3	10
TSEN54	1	0	1	0	8	10
UNC13D	1	0	1	3	5	10
A2ML1	0	0	0	3	6	9
ABCC6	1	0	0	1	7	9
ABCC9, KCNJ8	0	1	3	5	0	9
ACSF3	0	0	0	1	8	9
ADAMTS17	0	0	0	0	9	9
ADAMTSL2	0	0	0	3	6	9
C3	0	0	1	1	7	9
CACNA1C	0	0	3	2	4	9
CEP290	3	0	1	1	4	9
DHTKD1	0	0	0	1	8	9
DICER1	0	0	0	6	3	9
EYS	0	0	0	0	9	9
FBN2	0	0	2	3	4	9
FHL1	0	0	3	4	2	9
GJB2	4	1	1	2	1	9
GLDC	2	1	0	3	3	9
GLI3	2	0	2	0	5	9
ITPR1	0	0	2	1	6	9
JAG1	0	1	3	2	3	9
KIF7	0	0	0	1	8	9
LOC101927055, TTN	0	1	2	4	2	9
LOC114827851, MYH6	0	0	2	4	3	9
LOC126806424, TTN	1	2	0	5	1	9
LRRK2	0	0	0	0	9	9
MYL2	2	0	1	4	2	9
MYO3A	0	0	0	0	9	9
NBN	0	0	2	1	6	9
OTOGL	0	0	0	0	9	9
PNPLA6	0	0	0	2	7	9
PTEN	3	1	1	2	2	9
RELN	0	0	1	3	5	9
SCN8A	1	0	0	2	6	9
SGCD	0	0	2	6	1	9
SPTAN1	0	0	2	4	3	9
STK11	1	0	1	6	1	9
TERT	0	0	1	5	3	9
TG	0	0	1	0	8	9
WNK1	0	0	0	0	9	9
ADCY5	3	0	0	1	4	8
ASAH1	0	0	3	0	5	8
CACNA1H	0	0	0	1	7	8
CACNA1S	0	0	0	0	8	8
CDH23	0	0	2	0	6	8
COQ8A	0	0	0	2	6	8
CP	0	0	2	4	2	8
CPLANE1	1	0	1	1	5	8
CRYAB	0	0	2	5	1	8
DST	0	0	1	1	6	8
FBN1	0	0	3	1	4	8
GRM1	0	0	1	0	7	8
IGHMBP2	1	0	0	0	7	8
LOC126806428, TTN	0	0	2	6	0	8
LOC126861896, MYH6	0	0	2	5	1	8
MED12	2	0	2	1	3	8
MEN1	0	0	1	4	3	8
MIB1	0	2	3	3	0	8
MYH14	0	0	0	0	8	8
NPHP4	0	0	3	0	5	8
PEX1	2	0	1	1	4	8
PLCG2	0	0	3	0	5	8
POLE	0	0	2	5	1	8
PTPN11	7	0	1	0	0	8
PTPRQ	0	0	0	0	8	8
RANBP2	1	0	2	4	1	8
RECQL4	1	0	0	0	7	8
SCARF2	0	0	0	0	8	8
SI	0	0	0	0	8	8
SPG7	4	0	0	1	3	8
TTR	3	0	1	3	1	8
VPS13B	0	0	2	3	3	8
ABCB4	0	0	0	0	7	7
ABCC8	0	0	2	1	4	7
ABCG8	0	0	1	0	6	7
ADAR	0	0	1	6	0	7
ATP2B3	0	0	0	1	6	7
ATR	0	0	2	1	4	7
BBS4	0	0	1	2	4	7
CDON	0	0	0	0	7	7
CERKL	0	0	1	0	6	7
CFTR, LOC111674475	7	0	0	0	0	7
CNGB1	0	0	0	0	7	7
CNTNAP2	0	0	0	1	6	7
COL11A1	0	0	1	0	6	7
COL1A2	0	0	0	1	6	7
COL4A3, MFF-DT	0	0	1	0	6	7
CREBBP	0	0	0	5	2	7
DCHS1	0	0	6	1	0	7
EMD	0	0	3	3	1	7
ERCC2	0	0	3	0	4	7
ERCC6	0	0	2	0	5	7
FGFR3	3	0	0	2	2	7
FN1	0	0	0	1	6	7
GLA, RPL36A-HNRNPH2	0	0	1	6	0	7
KCNQ2	2	0	0	3	2	7
LIPC	0	1	1	0	5	7
LOC110121269, SCN5A	0	1	3	2	1	7
LOC126806421, TTN	0	0	1	6	0	7
LRBA	0	0	4	0	3	7
MET	0	0	1	2	4	7
MHRT, MYH7	0	0	1	4	2	7
NAGLU	2	0	1	1	3	7
NBEAL2	0	1	0	0	6	7
NLRP3	1	0	1	1	4	7
NOD2	0	0	2	2	3	7
NPHS1	2	0	0	1	4	7
NSD1	0	0	0	1	6	7
PINK1	1	0	2	1	3	7
PLCB1	0	0	0	1	6	7
PLCE1	0	0	0	0	7	7
PSPH	0	0	0	4	3	7
RELN, SLC26A5	0	0	2	0	5	7
SALL1	0	0	0	2	5	7
SERPINA1	3	1	0	0	3	7
SGSH	4	0	1	0	2	7
TCAP	0	0	2	4	1	7
TGM6	0	0	0	0	7	7
TH	0	0	2	5	0	7
USH2A	1	0	0	1	5	7
WDR62	0	0	0	1	6	7
WRN	0	0	0	1	6	7
ABCB11	1	0	1	0	4	6
AIRE	1	0	0	0	5	6
ANKRD11	1	0	0	3	2	6
ATP7A	0	0	1	1	4	6
ATP8B1	1	0	1	1	3	6
BEST1	0	0	0	1	5	6
CACNA1B	0	0	0	5	1	6
CACNA1D	0	0	3	0	3	6
CASR	1	0	1	0	4	6
CC2D2A	1	0	1	1	3	6
CDK5RAP2	0	0	1	0	5	6
CFH	0	0	3	1	2	6
COL5A1	0	0	0	0	6	6
COL6A3	0	0	1	0	5	6
COL9A3	0	0	0	0	6	6
CYP27A1	3	0	0	2	1	6
DNAAF3	0	0	0	0	6	6
EIF4G1	0	0	0	2	4	6
EP300	0	2	1	3	0	6
F12	1	0	0	2	3	6
FAH	0	1	0	2	3	6
FBXO7	0	0	1	2	3	6
GBA1, LOC106627981	1	0	3	2	0	6
GRIP1	0	0	0	1	5	6
ILK, TAF10	0	0	4	2	0	6
INF2	0	0	0	1	5	6
LOC126806425, TTN	0	0	2	4	0	6
LOC126806427, TTN	0	0	0	6	0	6
LOC126861898, MYH7	1	2	1	2	0	6
LTBP4	0	0	0	0	6	6
MMUT	0	0	2	1	3	6
MYH9	0	0	1	1	4	6
MYLK2	0	0	0	6	0	6
NRXN1	1	0	1	4	0	6
PCCA	1	0	1	1	3	6
PDE6C	0	0	0	0	6	6
PKD1	0	0	1	3	2	6
PLG	0	0	0	0	6	6
PNKP	2	0	0	4	0	6
POLD1	0	0	1	5	0	6
POR	0	0	0	0	6	6
PRX	0	0	0	0	6	6
RNASEH2B	1	0	2	2	1	6
SALL4	0	0	1	0	5	6
SDHB	2	0	1	1	2	6
SLC2A1	1	0	0	2	3	6
SMARCA4	0	0	0	4	2	6
SPINK5	0	0	0	5	1	6
SPTBN2	0	0	2	2	2	6
SRCAP	1	0	0	3	2	6
TAFAZZIN	0	0	0	6	0	6
TBC1D24	0	0	1	5	0	6
TNNC1	0	1	2	3	0	6
TP53	2	0	0	0	4	6
TRAPPC9	0	0	0	0	6	6
TRDN	0	0	0	0	6	6
AARS1	0	0	0	3	2	5
ACAN	0	0	0	0	5	5
AHI1	1	0	1	1	2	5
ALDH3A2	2	0	0	2	1	5
ALG8	2	0	0	0	3	5
ALPL	1	0	0	0	4	5
ANK1	0	0	0	0	5	5
ANO10	0	0	0	1	4	5
AP4B1	1	0	2	1	1	5
ARHGEF10	0	0	0	0	5	5
ASCL1, PAH	0	0	0	2	3	5
ATRIP, ATRIP-TREX1, TREX1	1	0	1	0	3	5
ATRX	0	0	0	3	2	5
AVPR2	1	0	0	1	3	5
BBS12	0	0	0	0	5	5
BBS9	2	0	1	1	1	5
BRIP1	2	0	2	1	0	5
C19orf12	1	0	0	3	1	5
C6	0	1	2	0	2	5
C7	0	0	1	0	4	5
CASQ2	0	0	0	0	5	5
CAV3, OXTR	0	0	0	5	0	5
CBS	1	0	1	1	2	5
CCDC88C	0	0	3	2	0	5
CCT5	0	0	0	0	5	5
CFTR, LOC111674472	4	0	1	0	0	5
CPS1	0	0	0	0	5	5
CTC1	0	0	1	1	3	5
DCAF17	0	0	0	0	5	5
DPP6	0	0	0	1	4	5
DUOX2	1	0	0	0	4	5
DUOXA2	0	0	0	0	5	5
EIF2AK3	0	0	0	0	5	5
FH	2	1	0	2	0	5
FIG4	0	0	0	0	5	5
GATA5	0	0	1	0	4	5
GIGYF2	0	0	0	0	5	5
GNAS	0	0	1	1	3	5
HCN1	0	0	1	3	1	5
HEXA	0	0	1	2	2	5
IDUA, SLC26A1	1	0	0	0	4	5
IGSF1	0	0	0	0	5	5
INPP5E	0	0	0	2	3	5
IRF2BPL	0	0	0	2	3	5
KAT6B	0	0	0	2	3	5
KCNJ5	0	0	0	0	5	5
KDM6A	0	0	0	2	3	5
LOC102724058, SCN1A	1	0	0	2	2	5
LOC108663996, TBP	0	0	0	2	3	5
LOC126806420, TTN	0	0	1	4	0	5
LRP5	1	0	0	0	4	5
MTR	0	0	0	0	5	5
MTTP	0	0	0	3	2	5
MYOZ1	0	0	2	3	0	5
MYOZ2	0	0	1	3	1	5
MYT1L	1	0	0	1	3	5
NLRP7	0	0	1	1	3	5
NTRK1	0	0	0	1	4	5
OFD1	0	0	0	2	3	5
PCLO	0	0	1	0	4	5
PLA2G6	0	0	3	1	1	5
POLG, POLGARF	0	0	0	3	2	5
POMT1	0	0	0	0	5	5
PRKCG	0	0	2	0	3	5
PRPH2	0	0	0	0	5	5
PRSS1, TRB	0	2	0	0	3	5
RIT1	3	0	0	0	2	5
SERPINH1	0	0	0	0	5	5
SHANK3	2	0	0	0	3	5
SLC12A6	1	1	0	0	3	5
SLC6A3	0	0	0	3	2	5
SLC6A5	0	0	0	1	4	5
SLC6A8	1	0	1	2	1	5
SLC7A9	0	0	0	0	5	5
SMARCA2	0	0	0	3	2	5
SMPD1	0	0	0	2	3	5
STRC	0	0	0	0	5	5
STXBP1	0	0	0	5	0	5
SUFU	0	0	0	2	3	5
TAF1	0	0	0	4	1	5
TMC8	0	0	0	1	4	5
TPO	1	0	0	0	4	5
TPP1	3	0	1	0	1	5
TRIOBP	0	0	0	0	5	5
TUBGCP6	0	0	0	0	5	5
WDR19	0	0	0	2	3	5
WNT10A	1	2	2	0	0	5
ABCA1	0	0	1	1	2	4
ADAMTS18	0	0	0	0	4	4
ALG6	2	0	0	0	2	4
ANK2	0	0	0	1	3	4
ANO3	0	0	1	2	1	4
ARSB	1	0	0	0	3	4
ATP6V0A4	0	0	0	0	4	4
AUTS2	0	0	0	3	1	4
B3GLCT	1	0	0	0	3	4
BCOR	0	0	1	1	2	4
BRAT1	1	0	0	0	3	4
BRWD3	0	0	3	1	0	4
C9	0	0	1	1	2	4
CACNA1F	0	0	1	0	3	4
CASD1, SGCE	1	0	0	2	1	4
CASP10	0	0	0	2	2	4
CDHR1	0	0	0	0	4	4
CDKN2A	1	0	0	2	1	4
CEP164	0	0	0	0	4	4
CHD2	0	0	1	2	1	4
CHRNA4	0	0	1	1	2	4
COL18A1, SLC19A1	0	0	0	0	4	4
COL3A1	0	0	1	0	3	4
CRTAP	0	0	0	0	4	4
CTDP1	0	0	0	1	3	4
CYP11B2, LOC106799834	0	0	0	0	4	4
CYP19A1, MIR4713HG, PIRC66	0	0	0	0	4	4
CYP21A2, LOC106780800	3	0	0	0	1	4
DDC	0	0	0	2	2	4
DDHD1	0	0	0	0	4	4
DLAT	0	0	0	4	0	4
DNAAF1	0	0	1	1	2	4
DNAAF2	0	0	0	0	4	4
DNAI2	0	0	0	0	4	4
EFTUD2	0	0	0	0	4	4
ENG	0	0	0	2	2	4
FANCD2, LOC107303338	0	0	0	2	2	4
FBP1	0	0	0	0	4	4
FECH	0	0	1	1	2	4
FGF9	0	0	0	0	4	4
FGFR2	0	0	1	0	3	4
FKTN	0	0	0	1	3	4
FLCN	0	0	0	4	0	4
FLNB	0	0	1	1	2	4
FLT4	0	0	0	1	3	4
FLVCR1	0	0	0	0	4	4
FREM2	0	0	0	0	4	4
GARS1	0	0	0	2	2	4
GBE1	1	0	1	0	2	4
GCDH	1	0	0	2	1	4
GNS	1	0	0	1	2	4
GRIN2A	0	0	0	3	1	4
GRM6, ZNF454	0	0	0	0	4	4
IFIH1	0	0	1	3	0	4
KCNA1	0	0	0	0	4	4
KCNH2	1	0	0	1	2	4
KDM6B	0	0	0	3	1	4
KIF1B	0	0	0	0	4	4
LALTOP, TPO	0	0	0	0	4	4
LCT	0	0	0	0	4	4
LHB	0	0	0	0	4	4
LOC126806431, TTN	0	0	0	4	0	4
LOC126862264, MEFV	2	1	0	0	1	4
LOC130065345, PANK2	1	0	1	1	1	4
LRSAM1	0	0	0	0	4	4
MAN2B1	0	0	0	1	3	4
MAP3K1	0	0	0	0	4	4
MPI	0	0	0	1	3	4
MYH2, MYHAS	0	0	0	0	4	4
MYL3	0	0	1	3	0	4
MYO5B	0	0	0	1	3	4
NCAPH2, SCO2	1	0	1	2	0	4
NIPBL	0	0	0	2	2	4
NLGN4X	1	0	1	1	1	4
PCDH15	0	0	0	0	4	4
PCDH19	0	0	0	3	1	4
PDHX	0	0	1	0	3	4
PHYH	0	0	1	0	3	4
PNP	0	0	0	0	4	4
PPT1	1	0	0	2	1	4
PRG4	0	0	0	0	4	4
RAD51D, RAD51L3-RFFL	1	0	2	1	0	4
RAG1	3	0	0	0	1	4
RAPSN	1	0	0	0	3	4
RPGRIP1	0	0	0	0	4	4
SELENON	0	0	1	0	3	4
SEMA3A	0	0	0	0	4	4
SLC19A3	0	0	1	2	1	4
SLC22A5	0	1	0	0	3	4
SLC52A3	0	0	0	0	4	4
SLC7A7	0	0	0	1	3	4
SLCO1B1	0	0	0	0	4	4
SON	1	0	0	3	0	4
SOS1	1	0	0	3	0	4
SPRED1	0	0	0	0	4	4
SURF1	2	1	1	0	0	4
SYNGAP1	2	1	0	1	0	4
TBCEL-TECTA, TECTA	0	0	0	0	4	4
TCTN2	0	0	0	0	4	4
TEK	0	0	0	0	4	4
TOR1A	1	0	1	1	1	4
TP63	3	0	0	1	0	4
TTC21B	0	0	1	0	3	4
USH1C	0	0	0	0	4	4
VCAN	0	0	0	2	2	4
VPS33B	0	0	0	2	2	4
ZFYVE26	0	0	0	1	3	4
ABCD1, PLXNB3	1	0	2	0	0	3
ACAD9	0	0	0	1	2	3
ACO2	0	0	1	0	2	3
ACTG1	0	0	1	0	2	3
ACVR2B	0	0	0	0	3	3
ADA2	2	0	0	0	1	3
ADGRG1	0	0	0	0	3	3
AFF2	0	0	1	2	0	3
AFG3L2	0	0	0	0	3	3
AGA	0	1	0	0	2	3
AIP	0	0	1	0	2	3
ALDH5A1	0	0	1	1	1	3
ALG13	0	0	0	2	1	3
ALOXE3	2	0	0	0	1	3
ALS2	0	0	0	0	3	3
ALX4	0	0	0	0	3	3
AMER1	0	0	0	3	0	3
AMH	0	0	0	0	3	3
AP4B1, PTPN22	0	0	0	3	0	3
AP4E1	0	0	0	0	3	3
APOC2, APOC4-APOC2	2	0	1	0	0	3
APTX	0	0	0	1	2	3
ARID1A	0	0	1	2	0	3
ARX	0	0	0	2	1	3
ASXL1	0	0	0	1	2	3
ATN1, LOC109461484	0	0	0	2	1	3
ATP2A2	1	0	0	0	2	3
ATP6V0A2	0	0	0	1	2	3
B3GAT3	0	1	0	2	0	3
BBS1, ZDHHC24	0	1	0	0	2	3
BBS2	1	0	0	0	2	3
BCKDHA	0	0	0	0	3	3
BMP4	0	0	1	1	1	3
C5	0	0	0	1	2	3
C8B	1	0	1	0	1	3
CACNA1A, LOC108663985	0	0	0	0	3	3
CACNB4	0	0	2	1	0	3
CCBE1	0	1	0	1	1	3
CEP152	0	0	1	0	2	3
CEP85L, PLN	2	0	0	1	0	3
CFI	0	0	1	0	2	3
CIZ1	0	0	0	3	0	3
CLCN1	0	0	0	0	3	3
CLN5	0	1	0	1	1	3
COG6	0	0	0	0	3	3
COL17A1	1	0	0	2	0	3
COL18A1	1	0	0	0	2	3
COL4A4	0	0	0	0	3	3
COL5A2	0	0	0	0	3	3
COMT	0	0	0	0	3	3
COX10	0	0	0	1	2	3
CPT2	1	1	0	0	1	3
CTNNA1	0	0	0	3	0	3
CYP4V2	0	0	0	0	3	3
DIAPH1	0	0	0	1	2	3
DIAPH3	0	0	0	0	3	3
DLD	0	0	0	1	2	3
DNAI1	1	0	1	0	1	3
DNMT3B	0	0	2	1	0	3
DPYD	0	1	0	0	2	3
DYNC1H1	0	0	1	2	0	3
EARS2	0	0	0	0	3	3
ELN	0	0	0	1	2	3
ELP1	2	0	0	0	1	3
EYA4	0	0	0	2	1	3
F10	0	0	1	0	2	3
F13B	0	0	0	0	3	3
F7	0	0	0	0	3	3
FGD1	0	0	1	2	0	3
FPGT-TNNI3K, TNNI3K	0	0	2	1	0	3
FUS	0	0	0	1	2	3
G6PD	2	0	0	0	1	3
GABRA1	0	0	0	2	1	3
GALNS	1	0	0	1	1	3
GATAD1	0	0	0	2	1	3
GFI1	0	0	0	2	1	3
GFM1	0	0	0	0	3	3
GLB1	1	0	0	0	2	3
GOSR2, LRRC37A2	1	0	1	0	1	3
GPC3	0	0	0	1	2	3
GRN	0	0	1	1	1	3
GYS2	0	0	0	0	3	3
HCFC1	0	0	0	3	0	3
HERC2	0	0	3	0	0	3
HFE	1	0	1	0	1	3
HK1	0	0	0	0	3	3
HMBS	0	0	0	0	3	3
HPRT1	0	0	1	1	1	3
HSD17B4	0	0	1	1	1	3
IDS, LOC106050102	0	0	0	1	2	3
IFT140	0	0	0	0	3	3
IL17RA	0	0	1	1	1	3
IMPG2	0	0	0	0	3	3
INVS	0	0	1	0	2	3
IQSEC2	0	0	0	2	1	3
ITGA3	0	0	0	2	1	3
ITGB2	0	0	0	0	3	3
ITGB3	0	0	0	0	3	3
KCNC3	1	0	0	1	1	3
KCNJ11	0	0	0	1	2	3
KCNMA1	0	0	1	0	2	3
KCNQ3	1	0	0	2	0	3
KIAA0586	2	0	1	0	0	3
KIF1A	0	0	1	1	1	3
KRAS	0	0	0	1	2	3
KRT10	0	0	2	1	0	3
KRT18, KRT8, LOC106096416	0	0	0	0	3	3
LDB3, LOC110121486	0	0	0	3	0	3
LEPR	0	0	0	0	3	3
LHCGR, STON1-GTF2A1L	0	0	0	0	3	3
LINC00630, RAB40AL	0	0	1	1	1	3
LMNA, LOC126805877	1	0	1	0	1	3
LOC107982234, WT1	0	0	0	2	1	3
LOC126806067, RYR2	0	0	1	2	0	3
LOC126806423, TTN	0	0	0	2	1	3
LOC126860392, RP1	0	0	0	0	3	3
LOC129935183, TTN	0	0	0	3	0	3
LPIN2	0	0	0	2	1	3
LPL	3	0	0	0	0	3
LRP4	0	0	0	0	3	3
LRPPRC	0	0	1	2	0	3
LTBP2	0	0	1	1	1	3
LZTR1	1	0	1	1	0	3
MACF1	0	0	1	2	0	3
MAP2K2	0	0	0	0	3	3
MAT1A	0	0	0	0	3	3
MBD5	0	0	0	2	1	3
MCCC1	1	0	0	0	2	3
MED17	0	0	0	0	3	3
MLH3	0	0	0	0	3	3
MMACHC	1	0	1	0	1	3
MOCS1	2	0	0	1	0	3
MTRR	0	0	0	0	3	3
MVP-DT, PRRT2	1	0	0	2	0	3
MYH11, NDE1	0	0	0	0	3	3
MYH8, MYHAS	0	0	0	0	3	3
MYO7A	0	0	1	0	2	3
NBEA	0	0	0	3	0	3
NDUFS7	0	1	0	1	1	3
NEB	0	0	0	0	3	3
NFAT5	0	0	2	1	0	3
NHS	0	0	1	2	0	3
NKX2-5	0	0	0	1	2	3
NLRP12	0	0	1	1	1	3
NPC2	0	0	0	3	0	3
NPHP3, NPHP3-ACAD11	2	0	1	0	0	3
NR3C2	0	0	0	0	3	3
OAT	0	0	0	0	3	3
OCA2	1	0	1	0	1	3
OCRL	0	0	0	3	0	3
PAX2	1	0	0	0	2	3
PEPD	0	0	1	1	1	3
PEX16	0	0	0	0	3	3
PEX6	0	0	1	2	0	3
PEX7	2	0	1	0	0	3
PIGN	0	0	0	0	3	3
PIK3R2	0	0	0	0	3	3
PNPLA1	0	0	0	1	2	3
POMGNT1, TSPAN1	1	0	0	0	2	3
POMT2	0	0	1	0	2	3
POT1	0	0	1	0	2	3
PRF1	0	0	2	0	1	3
PROC	1	0	0	0	2	3
PROM1	0	0	0	0	3	3
PRPS1	0	0	1	2	0	3
PRSS12	0	0	0	0	3	3
PSEN1	0	0	0	2	1	3
QDPR	0	0	0	2	1	3
RAD51C	2	0	0	1	0	3
RAF1	1	0	2	0	0	3
RAG2	0	0	2	0	1	3
RHBDF2	0	0	0	0	3	3
RNASEH2C	0	0	0	3	0	3
ROBO1	0	0	3	0	0	3
RUBCN	0	0	0	1	2	3
SCN9A	0	0	1	0	2	3
SCNN1G	0	0	0	0	3	3
SDHD	1	0	0	1	1	3
SEC63	0	0	0	0	3	3
SEPTIN9	0	0	0	0	3	3
SETBP1	1	0	0	1	1	3
SH3BP2	0	0	0	1	2	3
SHANK2	0	0	1	2	0	3
SHROOM4	0	0	0	3	0	3
SKIC3	0	0	1	1	1	3
SLA, TG	0	0	0	1	2	3
SLC12A3	0	0	0	0	3	3
SLC37A4	0	0	1	2	0	3
SLC39A4	0	0	1	0	2	3
SMAD4	0	0	0	3	0	3
SMC1A	0	0	0	3	0	3
SPAST	1	1	0	1	0	3
SPINK1	1	1	1	0	0	3
ST14	0	0	0	0	3	3
STIL	0	0	0	0	3	3
SUMF1	0	0	0	0	3	3
TBX20	0	0	0	1	2	3
TGFBR2	0	0	0	0	3	3
TMEM67	1	0	0	0	2	3
TMPRSS6	0	0	0	0	3	3
TNFRSF13B	0	2	0	1	0	3
TNFRSF1A	0	0	1	0	2	3
TRH	0	0	0	0	3	3
TRPV4	0	0	1	1	1	3
TSHR	0	0	0	0	3	3
TSHZ1	0	0	0	0	3	3
TTPA	1	0	0	0	2	3
UPK3A	0	0	0	0	3	3
VCP	0	0	0	0	3	3
XDH	0	0	1	1	1	3
ZIC3	0	0	2	0	1	3
ABCD1	0	0	0	2	0	2
ABCG5, DYNC2LI1	1	0	1	0	0	2
ABHD12	0	0	1	0	1	2
ACADM	1	0	0	0	1	2
ACAT1	0	0	0	0	2	2
ACTB	0	0	0	0	2	2
ACVRL1	0	0	0	1	1	2
ADAMTS10	0	0	0	0	2	2
ADAMTSL4	0	0	0	0	2	2
ADAR, LOC126805874	0	0	0	1	1	2
AGT	0	0	0	0	2	2
AICDA	0	0	0	0	2	2
ALDH18A1	0	0	0	1	1	2
ALDH4A1	0	0	0	0	2	2
ALDH7A1	0	0	1	1	0	2
ALMS1, LOC126806252	0	0	0	0	2	2
AMT	0	0	0	0	2	2
ANK2, LOC126807137	0	0	0	0	2	2
ANKS6	0	0	1	1	0	2
ANOS1	0	0	0	0	2	2
AP3D1	0	0	0	2	0	2
AP4M1	2	0	0	0	0	2
APOA2	0	0	0	2	0	2
APOB, LOC106560211	0	0	0	1	1	2
APOE	0	0	0	0	2	2
ARHGAP31	0	0	0	1	1	2
ARID1B, LOC115308161	0	0	0	0	2	2
ARL6	0	0	1	1	0	2
ARSL	0	0	0	1	1	2
ASPA, SPATA22	0	0	1	0	1	2
ATL1	0	0	0	0	2	2
ATP2A1	0	0	0	0	2	2
B4GALT7	0	0	0	0	2	2
BARD1	0	0	1	1	0	2
BBS10	1	0	0	0	1	2
BBS7	0	0	0	0	2	2
BFSP2	0	0	2	0	0	2
BIN1	0	0	0	0	2	2
BLM	0	0	0	1	1	2
BTD	0	0	0	1	1	2
C2	0	0	1	0	1	2
C2CD3	0	0	0	2	0	2
C2orf49, FHL2	0	0	0	0	2	2
C9orf72	0	0	0	0	2	2
CACNB2	0	0	0	0	2	2
CARD14, SGSH	1	0	0	0	1	2
CATIP, PNKD	0	0	1	1	0	2
CCDC39	0	0	0	1	1	2
CD3E	0	0	0	1	1	2
CD40LG	0	0	0	0	2	2
CDK13	2	0	0	0	0	2
CDKL5	0	0	0	2	0	2
CDKL5, RS1	0	0	0	2	0	2
CDKN1B	0	0	0	2	0	2
CDSN, PSORS1C1	0	0	0	1	1	2
CDT1	0	0	0	0	2	2
CEL	0	0	0	2	0	2
CEP83	1	0	1	0	0	2
CFHR5	0	0	1	1	0	2
CFP	0	0	1	0	1	2
CHAT	0	0	1	0	1	2
CHD7, LOC126860403	0	0	1	1	0	2
CHD8	1	0	0	1	0	2
CHRNG	0	0	1	0	1	2
CLCN2	0	0	0	0	2	2
CLCN7	0	0	0	0	2	2
CLN6	0	0	0	2	0	2
CNGB3	0	0	0	0	2	2
COL1A1	0	0	0	0	2	2
COL9A1	0	0	0	0	2	2
COQ2	0	0	0	0	2	2
CPAP	0	0	0	0	2	2
CPOX	0	0	0	0	2	2
CPT1A	0	0	0	0	2	2
CRELD1	0	0	0	1	1	2
CTNS	0	0	0	0	2	2
CTSA	0	0	0	1	1	2
CTSC	0	0	1	0	1	2
CTSD	0	0	0	2	0	2
CUL7	0	0	0	0	2	2
CYBA	0	0	1	0	1	2
CYP11B1	0	0	0	0	2	2
CYP24A1	0	0	0	0	2	2
CYP7B1	1	1	0	0	0	2
DAG1	0	0	0	0	2	2
DEPDC5	0	0	1	1	0	2
DGUOK	0	0	0	0	2	2
DKC1	0	0	0	1	1	2
DMP1	0	0	0	0	2	2
DMP1, DSPP	0	0	0	0	2	2
DMPK	0	0	1	0	1	2
DNMT1	0	0	0	0	2	2
DPM2	0	0	0	0	2	2
EDA	1	0	0	1	0	2
EDAR, RANBP2	1	0	0	0	1	2
EEF1A2	0	0	0	1	1	2
EFHC1	0	0	0	2	0	2
EHMT1	0	0	1	0	1	2
EPCAM	0	0	0	1	1	2
EPHB2	0	0	0	0	2	2
EPHB4	0	0	0	2	0	2
EYA1	0	0	0	0	2	2
EYA4, TARID	0	0	0	2	0	2
FA2H	0	0	0	1	1	2
FANCI, POLG	1	0	0	0	1	2
FERMT3	0	0	1	1	0	2
FGA	1	0	0	0	1	2
FGD4	0	0	0	0	2	2
FHOD3	0	0	1	1	0	2
FLG	1	0	0	1	0	2
FMO3, LOC126805916	0	0	0	0	2	2
FOXC1	0	1	0	1	0	2
FOXE1	0	0	0	0	2	2
FOXG1	0	0	0	2	0	2
FOXH1	0	0	0	2	0	2
FOXI1	0	0	0	0	2	2
FPGT-TNNI3K, LRRC53, TNNI3K	0	0	2	0	0	2
FRAS1, LOC126807089	0	0	0	0	2	2
FTL	0	0	0	1	1	2
FUCA1	0	0	0	0	2	2
GALK1, ITGB4	0	0	0	1	1	2
GALNS, LOC126862447	0	0	0	0	2	2
GATM	0	0	0	0	2	2
GFAP	0	0	0	2	0	2
GHR	0	0	0	0	2	2
GJA1	1	0	0	1	0	2
GLB1, LOC129936434, TMPPE	0	0	0	0	2	2
GLIS3	0	0	0	0	2	2
GNAL	0	0	1	1	0	2
GNPTAB	0	0	0	0	2	2
GORAB	0	0	0	0	2	2
GPC4	0	0	0	2	0	2
GPHN	0	0	0	2	0	2
GRHPR	0	0	0	0	2	2
GRIK2	0	0	0	0	2	2
GSE1	0	0	1	1	0	2
GSN	1	0	1	0	0	2
GUSB	1	0	0	0	1	2
HAVCR2	0	1	1	0	0	2
HBB, LOC106099062, LOC107133510	1	0	0	0	1	2
HMGCL	1	0	0	0	1	2
HNF1A	0	0	0	0	2	2
HOXB1	0	0	0	0	2	2
HOXB13	1	0	1	0	0	2
HSPB3	0	0	0	0	2	2
HSPG2	0	0	0	1	1	2
HTRA1	0	0	0	0	2	2
HTT, LOC109461479, LOC129929027	0	0	0	0	2	2
IFNGR1	0	0	0	0	2	2
IFT122	0	0	0	1	1	2
IFT140, LOC105371046	0	0	0	0	2	2
IGF1R	0	0	0	2	0	2
IHH	0	0	0	0	2	2
IKBKG	0	0	1	1	0	2
IL10RA	0	0	0	0	2	2
IL12RB1	0	0	0	0	2	2
IL1RN	0	0	0	0	2	2
IL7R	0	0	0	0	2	2
INSR	0	0	0	0	2	2
ITGB4	0	0	0	2	0	2
ITPR1, LOC126806590	0	0	0	0	2	2
JAK3	1	0	0	1	0	2
JAM3	0	0	0	1	1	2
KANSL1	0	0	0	1	1	2
KBTBD13	0	0	0	0	2	2
KCNA5	0	0	0	1	1	2
KCNQ4	0	0	0	0	2	2
KDM5C	0	0	0	1	1	2
KIF1C	0	0	0	2	0	2
KIFBP	0	0	0	0	2	2
KIT	0	0	0	2	0	2
KMT2B	0	0	0	2	0	2
KMT2C	1	0	0	1	0	2
L1CAM	0	0	0	2	0	2
LAMB3	2	0	0	0	0	2
LARGE1	0	0	0	0	2	2
LCA5	0	0	0	0	2	2
LCT, LOC126806353	0	0	0	0	2	2
LDLR, MIR6886	1	0	0	0	1	2
LDLRAP1	0	0	0	1	1	2
LIG4	0	0	0	0	2	2
LIPA	1	0	0	0	1	2
LIX1L, LOC126805851, RBM8A	1	1	0	0	0	2
LMF1	0	0	1	0	1	2
LMNA, LOC129931597	0	0	1	0	1	2
LMOD1	0	0	2	0	0	2
LMX1B	0	0	0	0	2	2
LOC108281134, SOX3	0	0	0	1	1	2
LOC126805765, NEXN	0	0	2	0	0	2
LOC126806068, RYR2	0	1	0	1	0	2
LOC126806426, TTN	0	1	0	1	0	2
LOC126806429, TTN	0	0	0	2	0	2
LOC126806433, TTN	0	0	0	2	0	2
LOC126859837, SYNE1	0	0	1	0	1	2
LOC126860089, PCLO	0	0	0	1	1	2
LOC129992304, QDPR	0	0	0	2	0	2
LOC130006596, MED17	0	0	0	0	2	2
LOC132089829, MYPN	0	0	0	2	0	2
LOXHD1	0	0	0	0	2	2
LPO, MPO	0	1	0	1	0	2
LTBP3	0	0	0	1	1	2
MAML2	0	0	1	0	1	2
MASP2	0	0	2	0	0	2
MC4R	1	0	0	1	0	2
MCCC2	0	0	0	0	2	2
MEGF10	0	0	0	0	2	2
MID1	0	0	1	1	0	2
MMAB, MVK	0	0	0	0	2	2
MMP2	0	0	0	0	2	2
MTHFR	0	0	0	0	2	2
MTM1	0	0	1	0	1	2
MTOR	0	0	0	2	0	2
MTPAP	0	0	0	0	2	2
MVK	1	0	0	1	0	2
MYBPC1	0	0	0	0	2	2
MYO6	0	0	0	0	2	2
NAA10	2	0	0	0	0	2
NAGS	0	0	0	0	2	2
NCAPH2, SCO2, TYMP	0	0	0	0	2	2
NCF2	0	0	0	0	2	2
NCR1, NLRP7	0	0	0	0	2	2
NDUFA12	0	0	2	0	0	2
NDUFAF5	0	0	1	1	0	2
NDUFS1	0	0	0	1	1	2
NDUFS3	0	0	1	1	0	2
NEBL	0	0	0	2	0	2
NEK1	0	0	0	1	1	2
NHLRC1	1	0	0	0	1	2
NIPAL4	0	0	0	0	2	2
NNT	1	0	0	0	1	2
NSDHL	0	0	0	1	1	2
NT5E	0	0	0	0	2	2
OPA1	0	0	1	0	1	2
OPTN	0	0	0	0	2	2
OTOF	0	0	0	0	2	2
PADI3	1	1	0	0	0	2
PAK3	0	0	0	2	0	2
PALLD	0	0	0	1	1	2
PARK7	0	0	0	1	1	2
PAX3	0	0	0	1	1	2
PAX6	0	0	0	1	1	2
PAX9	0	0	0	0	2	2
PDGFRA	0	0	0	1	1	2
PDGFRB	0	0	0	0	2	2
PDHB	0	0	0	2	0	2
PDZD7	0	0	0	0	2	2
PEX10	0	0	0	0	2	2
PGM1	0	0	0	0	2	2
PHKA1	1	0	1	0	0	2
PHKA2	0	0	1	1	0	2
PHOX2B	0	0	1	1	0	2
PI4KA, SNAP29	0	0	0	0	2	2
PIEZO1	0	0	2	0	0	2
PKD1L1	0	0	0	2	0	2
PKLR	0	0	0	0	2	2
PLOD1	1	0	0	1	0	2
PLOD2	0	0	0	0	2	2
PNPLA2	0	0	0	0	2	2
POLH	1	0	0	0	1	2
POU3F3	0	1	1	0	0	2
PPOX	0	0	1	1	0	2
PRICKLE1	0	0	0	0	2	2
PRKN	0	0	0	1	1	2
PRKRA	0	0	0	1	1	2
PROP1	0	0	0	0	2	2
PSMB8	0	0	0	0	2	2
PTH1R	0	0	1	0	1	2
PTPRO	0	0	0	0	2	2
PTS	0	0	0	2	0	2
RAB3GAP1	0	0	0	0	2	2
RARS2	0	0	2	0	0	2
REEP1	0	0	1	0	1	2
RGR	0	0	0	0	2	2
RNASET2	0	0	0	0	2	2
ROBO2	0	0	0	0	2	2
ROR2	0	0	0	1	1	2
SACK1H	0	0	0	0	2	2
SAMD9	0	0	2	0	0	2
SAMD9L	0	0	2	0	0	2
SATB2	1	0	0	0	1	2
SBDS	1	0	0	0	1	2
SCNN1A	0	0	0	1	1	2
SDCCAG8	0	0	0	0	2	2
SEC23B	0	0	0	0	2	2
SERAC1	0	0	0	0	2	2
SERPING1	0	0	0	0	2	2
SGCG	0	0	0	0	2	2
SKI	0	0	0	2	0	2
SLC17A5	1	0	0	1	0	2
SLC26A2	0	0	0	0	2	2
SLC26A4	0	0	2	0	0	2
SLC34A1	0	0	0	0	2	2
SLC34A3	0	0	0	0	2	2
SMC3	0	0	0	0	2	2
SNHG14, UBE3A	1	0	0	0	1	2
SOX11	0	0	0	2	0	2
SOX3	0	0	1	0	1	2
SOX5	0	1	1	0	0	2
SP7	0	0	0	0	2	2
SPECC1L, SPECC1L-ADORA2A	0	0	0	1	1	2
SQSTM1	0	0	0	0	2	2
ST3GAL3	0	0	0	1	1	2
STAT1	0	0	0	2	0	2
STXBP2	0	0	0	1	1	2
SUCLA2	0	0	0	0	2	2
SUCLG1	0	0	1	1	0	2
SYT14	0	0	0	0	2	2
TAP1	0	0	2	0	0	2
TBCK	2	0	0	0	0	2
TBX1	0	0	0	0	2	2
TBX5	0	0	0	0	2	2
TCF3	0	0	0	2	0	2
TCOF1	0	0	0	1	1	2
TF	0	0	0	0	2	2
TFR2	0	0	2	0	0	2
TGM1	1	0	0	0	1	2
THRB	0	0	0	1	1	2
TMC6	0	0	0	0	2	2
TMEM216	0	0	0	0	2	2
TMEM237	0	0	1	1	0	2
TMLHE	0	0	1	1	0	2
TMPRSS3	0	0	0	0	2	2
TNNT1	1	0	0	0	1	2
TNXB	0	0	0	0	2	2
TRPM4	0	0	1	1	0	2
TRPS1	0	0	0	0	2	2
TSEN15	0	0	0	0	2	2
TTC7A	0	0	2	0	0	2
TUBA1A	0	1	1	0	0	2
TUBB1	0	0	0	0	2	2
TULP1	0	0	0	0	2	2
TWIST1	0	0	0	2	0	2
TYK2	0	0	0	0	2	2
UBA1	0	0	0	0	2	2
UGT1A, UGT1A1, UGT1A10, UGT1A3, UGT1A4, UGT1A5, UGT1A6, UGT1A7, UGT1A8, UGT1A9	2	0	0	0	0	2
VDR	0	0	0	0	2	2
VPS13D	0	0	1	1	0	2
VRK1	0	0	0	0	2	2
WDPCP	0	0	1	0	1	2
WDR35	0	0	0	0	2	2
WDR81	0	0	0	0	2	2
WRAP53	0	0	1	0	1	2
WT1	0	0	0	2	0	2
XIAP	0	0	0	1	1	2
XPC	2	0	0	0	0	2
ZNF41	0	0	0	2	0	2
ZNF592	0	0	0	0	2	2
ZNF81	0	0	0	1	1	2
AAGAB	1	0	0	0	0	1
AAGAB, LOC130057363	0	1	0	0	0	1
ABCA12	0	0	0	0	1	1
ABCA3	0	0	0	1	0	1
ABL1	0	0	0	1	0	1
ACADS	0	0	0	0	1	1
ACADVL	0	0	0	0	1	1
ACBD6, LHX4	0	0	0	0	1	1
ACD	0	0	1	0	0	1
ACE	0	0	0	0	1	1
ACSF3, LOC125177393	0	0	0	0	1	1
ACSL4	0	0	0	1	0	1
ACTA2	0	0	0	0	1	1
ACTN4	0	0	0	0	1	1
ACYP1, NPC2	0	0	0	1	0	1
ADAM17	0	0	0	1	0	1
ADAMTS17, LOC130058037	0	0	0	0	1	1
AGL	0	0	0	0	1	1
AGTR2	0	0	0	1	0	1
AHCY	0	0	0	1	0	1
AHDC1	0	0	1	0	0	1
AHNAK	0	0	1	0	0	1
AIFM1, LOC130068679, RAB33A	0	0	0	1	0	1
AIP, LOC130006206	0	0	0	1	0	1
AIPL1	0	0	0	0	1	1
AK2, LOC129930068	0	0	1	0	0	1
AKR1D1	0	0	0	0	1	1
AKT2	0	0	0	1	0	1
ALAD	0	0	0	0	1	1
ALDH4A1, LOC120893116	0	0	0	0	1	1
ALG1	0	0	0	0	1	1
ALG12	0	0	0	1	0	1
ALG9	0	0	0	0	1	1
ALPK3, LOC111718493	0	0	1	0	0	1
AMOT	0	0	0	1	0	1
ANK1, LOC130000286	0	0	0	0	1	1
ANK2, LOC126807136	0	0	0	0	1	1
ANK3	0	0	0	0	1	1
ANKRD26, LOC130003554	0	0	0	0	1	1
AP3B1	0	0	0	1	0	1
AP5Z1	0	0	1	0	0	1
APOA1	1	0	0	0	0	1
APOA5	0	0	0	1	0	1
APOA5, LOC108491825	0	0	0	0	1	1
APOC3	0	0	0	0	1	1
AQP2	0	0	0	0	1	1
AQP2, AQP5	0	0	0	0	1	1
AR, LOC109504725	0	0	0	1	0	1
ARFGEF2	0	0	0	0	1	1
ARG1, MED23	0	0	0	0	1	1
ARHGEF6	0	0	0	1	0	1
ARHGEF9	0	0	1	0	0	1
ARID1A, LOC126805670	0	0	0	1	0	1
ARL13B	0	0	0	0	1	1
ARVCF, COMT	0	0	0	0	1	1
ASCC1	1	0	0	0	0	1
ASCC3	0	0	0	0	1	1
ASL	1	0	0	0	0	1
ASS1	0	0	0	0	1	1
ASXL3	0	0	0	0	1	1
ATAD3A	0	0	1	0	0	1
ATCAY	0	0	1	0	0	1
ATN1	0	0	0	1	0	1
ATP1A2	0	0	0	0	1	1
ATP2C1	1	0	0	0	0	1
ATP6AP1	0	0	0	0	1	1
ATP6V0A2, LOC130009117	0	0	0	0	1	1
ATP6V1B1	0	0	0	0	1	1
ATP8A2	0	0	0	1	0	1
ATXN1, LOC108663993	0	0	0	0	1	1
B3GALNT2	1	0	0	0	0	1
B9D1	0	0	0	0	1	1
B9D2	0	0	0	0	1	1
BAP1	0	0	0	1	0	1
BBS1	0	0	0	0	1	1
BBS5	0	1	0	0	0	1
BCAP31	0	0	1	0	0	1
BCKDHB	1	0	0	0	0	1
BCOR, LOC126863239	0	0	0	0	1	1
BCORL1	0	0	1	0	0	1
BIVM-ERCC5, ERCC5	0	0	0	1	0	1
BIVM-ERCC5, ERCC5, LOC126861834	0	0	1	0	0	1
BLTP1	0	0	1	0	0	1
BMP2	0	1	0	0	0	1
BMPR2	0	0	0	0	1	1
BRD2	0	0	0	0	1	1
BRRIAR, ITPR1	1	0	0	0	0	1
BSCL2, HNRNPUL2-BSCL2	0	0	0	1	0	1
BUB1B	0	0	0	1	0	1
C12orf57	0	0	1	0	0	1
C1QA	0	0	0	0	1	1
C1QB	0	0	1	0	0	1
C4A	0	0	0	0	1	1
C4B	0	0	0	0	1	1
C8A	0	0	0	1	0	1
CACNA1B, LOC100133077	0	0	1	0	0	1
CACNA1E	0	0	1	0	0	1
CACNA2D1	0	0	1	0	0	1
CAD	0	0	0	1	0	1
CAMTA1	0	0	0	1	0	1
CAMTA1, LOC126805603	0	0	0	0	1	1
CAPN1	0	0	1	0	0	1
CAPN10	0	0	1	0	0	1
CAPN3	0	1	0	0	0	1
CARD14	0	0	1	0	0	1
CARD9	0	0	1	0	0	1
CARMIL2	0	0	1	0	0	1
CASK	0	0	0	0	1	1
CAST, LOC101929710, PCSK1	0	0	0	0	1	1
CAV1	0	0	0	1	0	1
CAV3	0	0	0	0	1	1
CAVIN1	0	0	1	0	0	1
CBL	0	0	0	0	1	1
CBL, LOC130006895	0	0	0	1	0	1
CC2D1A	0	0	1	0	0	1
CCDC22	0	0	0	1	0	1
CCDC39, TTC14	0	0	0	0	1	1
CCND2	0	0	1	0	0	1
CD151	0	0	0	1	0	1
CD2AP	0	0	0	0	1	1
CD3D	0	0	0	0	1	1
CD40, LOC127893450	0	0	0	0	1	1
CD79A	0	0	1	0	0	1
CD96	0	0	0	0	1	1
CDAN1, LOC130056931	0	0	0	0	1	1
CDH15	0	0	1	0	0	1
CDH2	0	0	0	1	0	1
CDKN1A	0	0	0	1	0	1
CEBPA	0	0	0	1	0	1
CEP104, LOC126805586	0	0	0	1	0	1
CEP128, TSHR	0	0	0	0	1	1
CEP135	1	0	0	0	0	1
CEP41	0	0	0	0	1	1
CEP89	0	0	1	0	0	1
CETP	0	0	0	0	1	1
CETP, LOC130059064	0	0	0	0	1	1
CFB	0	0	0	0	1	1
CFC1	0	0	0	0	1	1
CFD	0	0	0	0	1	1
CFL2	0	0	0	0	1	1
CFTR, LOC111674463	0	0	0	0	1	1
CFTR, LOC111674477	0	0	0	0	1	1
CFTR, LOC113633877	1	0	0	0	0	1
CFTR, LOC113664106	1	0	0	0	0	1
CHD3	0	0	0	1	0	1
CHM, LOC129391306	0	0	0	0	1	1
CHMP2B	0	0	0	0	1	1
CHRNA2	0	0	0	1	0	1
CHRNB2	0	0	0	1	0	1
CHROMR, PRKRA	0	0	0	1	0	1
CHST3	0	0	0	0	1	1
CITED2	0	0	0	1	0	1
CITED2, LOC129997307	0	0	0	1	0	1
CLCNKB	0	0	0	0	1	1
CLIC5	0	0	1	0	0	1
CLN5, LOC130009913	0	0	0	1	0	1
CLTC, LOC125177523	0	0	0	1	0	1
CNGA3	0	0	0	0	1	1
CNOT3	0	0	0	1	0	1
COCH	0	0	0	0	1	1
COG1	0	0	0	1	0	1
COG1, LOC126862634	0	0	0	1	0	1
COL10A1, NT5DC1	0	0	0	0	1	1
COL4A6	0	0	0	0	1	1
COL5A1, LOC101448202	0	0	0	0	1	1
COL6A3, LOC126806573	0	0	0	0	1	1
COL9A3, LOC126863084	0	0	0	0	1	1
COLQ	0	0	1	0	0	1
COQ2, LOC112997540	0	0	0	0	1	1
COX10, LOC105943586	0	0	0	0	1	1
COX15	0	0	0	0	1	1
COX20	0	0	1	0	0	1
CPAP, RNF17	0	0	0	0	1	1
CR2	0	0	1	0	0	1
CRADD	0	0	0	1	0	1
CRB1	0	0	0	0	1	1
CRLF1	0	0	0	0	1	1
CRPPA	0	0	0	0	1	1
CRPPA, LOC129998005	0	0	0	0	1	1
CRTAP, LOC129936436	1	0	0	0	0	1
CRYAA	1	0	0	0	0	1
CRYBA1	0	0	0	0	1	1
CRYBB3	0	0	0	0	1	1
CRYGD, LOC100507443	0	0	0	0	1	1
CSF3R	0	0	0	1	0	1
CTCF	0	0	0	1	0	1
CTNNB1	0	0	0	1	0	1
CTNND1, TMX2-CTNND1	0	0	1	0	0	1
CTNND2	0	0	1	0	0	1
CUBN	0	0	0	1	0	1
CUL4B	0	0	0	1	0	1
CXCR4	0	0	0	1	0	1
CYLD, NOD2	0	0	0	0	1	1
CYP11B1, LOC106799833	0	0	0	0	1	1
CYP17A1	1	0	0	0	0	1
CYP1B1, LOC128772254	0	0	0	0	1	1
CYP21A2	0	0	0	1	0	1
CYP21A2, LOC106780800, TNXB	0	0	0	1	0	1
CYP2B6	0	0	0	0	1	1
CYP2R1, PDE3B	0	0	0	0	1	1
CYP4V2, LOC129993526	0	0	0	0	1	1
DARS2	0	0	1	0	0	1
DBH	0	0	0	0	1	1
DBT	0	0	0	0	1	1
DCAF8	0	0	0	1	0	1
DCC	0	0	1	0	0	1
DCLRE1B	0	0	1	0	0	1
DCLRE1C	0	0	0	0	1	1
DCT	0	0	1	0	0	1
DDHD2	1	0	0	0	0	1
DDX11	0	0	1	0	0	1
DDX3X	0	1	0	0	0	1
DENND5A	0	0	1	0	0	1
DES, DES-LCR	0	0	0	1	0	1
DGKE	0	0	0	0	1	1
DGUOK, LOC129934096	0	0	1	0	0	1
DHCR24	0	0	0	0	1	1
DHFR, MSH3	0	0	0	0	1	1
DISP1	0	0	1	0	0	1
DLL3	0	0	0	0	1	1
DM1, DMPK, LOC107075317	0	0	1	0	0	1
DNAAF11	0	0	0	0	1	1
DNAAF2, LOC130055542	0	0	0	0	1	1
DNAH11, LOC126859961	0	0	0	0	1	1
DNAH6	0	0	1	0	0	1
DNAH8	0	0	1	0	0	1
DNAJC13	0	0	0	1	0	1
DNAJC21	0	0	1	0	0	1
DOCK8, LOC126860552	0	0	0	0	1	1
DPAGT1	0	0	0	0	1	1
DPH1	0	0	0	1	0	1
DSC2, DSCAS	0	0	0	0	1	1
DSC3	0	0	0	1	0	1
DSG2, LOC130062340	0	0	0	1	0	1
DYM	0	0	0	1	0	1
DYNC1H1, LOC126862060	0	0	1	0	0	1
EBP	0	0	1	0	0	1
EDA2R	0	0	0	0	1	1
EDNRB	0	0	0	0	1	1
EEF1A2, LOC132090595	0	0	0	0	1	1
EFEMP2	0	0	0	0	1	1
EGF	0	0	0	0	1	1
EGF, LOC126807134	0	0	0	0	1	1
EGFR	0	0	0	0	1	1
EGR2	0	0	0	0	1	1
EIF2S3	0	0	0	0	1	1
ELAC2	0	0	0	0	1	1
ELANE	0	0	0	1	0	1
ELP4	0	0	0	1	0	1
ENG, LOC102723566	0	0	0	1	0	1
ENTREP2, NSMCE3	1	0	0	0	0	1
EPG5	0	1	0	0	0	1
EPM2A, EPM2A-DT, LOC129997381	0	0	0	0	1	1
ERCC3	1	0	0	0	0	1
ERCC4	0	0	1	0	0	1
ERCC6, LOC126860933	0	0	1	0	0	1
ERCC6, PGBD3	0	0	0	1	0	1
ERCC6L2	1	0	0	0	0	1
ESCO2	1	0	0	0	0	1
ESPN	0	0	0	0	1	1
ESRRB	0	0	0	0	1	1
ETFDH	0	0	0	0	1	1
EXOSC3	0	0	0	0	1	1
EZH2	0	0	0	0	1	1
F13A1	0	0	0	0	1	1
F2	0	0	0	0	1	1
F8	0	0	0	0	1	1
FAAP24	0	0	1	0	0	1
FAM161A	0	0	0	0	1	1
FANCA	0	0	0	0	1	1
FANCB	0	0	1	0	0	1
FANCL	1	0	0	0	0	1
FAT2	0	0	0	1	0	1
FAT4	0	0	1	0	0	1
FBLN5	0	0	0	0	1	1
FBN1, LOC130057019	0	0	1	0	0	1
FBXO11, LOC100506235	0	0	0	1	0	1
FBXO11, MSH6	0	0	0	1	0	1
FCN3	0	0	1	0	0	1
FGF23	1	0	0	0	0	1
FGFR1	0	0	0	1	0	1
FKBP10	0	0	1	0	0	1
FLNA, LOC107988032	0	0	0	0	1	1
FLT4, LOC126807632	0	0	0	0	1	1
FLVCR1, LOC129932486	0	0	0	0	1	1
FMO3	0	0	0	0	1	1
FMR1	0	0	0	0	1	1
FN1, FN1-DT	0	0	0	0	1	1
FN1, LOC126806498	0	0	0	1	0	1
FOLR1	0	0	0	1	0	1
FOXRED1	0	0	0	1	0	1
FPR1	0	0	1	0	0	1
FRG1	0	0	0	0	1	1
FRMD4A	0	0	1	0	0	1
FRMD4A, PRPF18	0	0	0	1	0	1
FRMD7	0	0	1	0	0	1
FXN, LOC130001862	0	0	0	0	1	1
G6PC1	1	0	0	0	0	1
GABRD	0	0	0	1	0	1
GAD1	0	0	0	0	1	1
GAMT	0	0	0	0	1	1
GAREM2, HADHA	0	0	1	0	0	1
GATA2	0	0	0	0	1	1
GATA4	0	0	0	1	0	1
GATAD1, LOC129998793	0	0	0	0	1	1
GATM, LOC130056991	0	0	0	1	0	1
GCDH, LOC126862860, SYCE2	0	0	0	0	1	1
GCH1, LOC130055692	0	0	0	1	0	1
GCNT2	0	0	0	0	1	1
GDAP1	0	0	0	0	1	1
GDAP1, LOC130000622	0	0	0	0	1	1
GDF5	0	0	0	0	1	1
GDF6	0	0	1	0	0	1
GH-LCR, SCN4A	0	0	0	0	1	1
GJB3	0	0	0	0	1	1
GJB6	0	0	0	1	0	1
GLE1	0	0	0	0	1	1
GLIS2	0	0	0	0	1	1
GLMN	0	0	0	0	1	1
GLRA1	0	0	0	0	1	1
GLYCTK	0	0	1	0	0	1
GNAQ	0	0	0	0	1	1
GNE	0	0	1	0	0	1
GNRHR	1	0	0	0	0	1
GPD1L	0	0	1	0	0	1
GRHL2	0	0	0	0	1	1
GRIA3	0	0	0	0	1	1
GRIN1	0	0	0	0	1	1
GRIN2D	0	0	0	1	0	1
GRM6	0	0	0	0	1	1
GRXCR1	0	0	0	0	1	1
GSS	0	0	0	0	1	1
GUCA1B	0	0	0	0	1	1
GUCY2D	0	0	0	0	1	1
GYS1	0	0	0	0	1	1
HARS1	0	0	0	0	1	1
HCN4, LOC105370890, LOC126862173	0	0	0	1	0	1
HERC1	0	0	1	0	0	1
HEXB	0	0	1	0	0	1
HGD	0	0	0	0	1	1
HGSNAT	0	0	0	0	1	1
HLCS	0	0	0	1	0	1
HNF1B	0	0	0	0	1	1
HNRNPH2, RPL36A-HNRNPH2	1	0	0	0	0	1
HNRNPU	1	0	0	0	0	1
HOGA1	0	0	0	0	1	1
HOXD13	0	0	0	1	0	1
HPGD	0	0	0	0	1	1
HRAS, LRRC56	0	0	0	0	1	1
HSD17B4, LOC129994460	1	0	0	0	0	1
HSPD1	0	0	0	0	1	1
HUWE1	0	1	0	0	0	1
HUWE1, LOC126863263	0	0	0	1	0	1
IFITM5	0	0	0	0	1	1
IFNAR2-IL10RB, IL10RB	0	0	0	0	1	1
IFNGR2	0	0	1	0	0	1
IFT140, LOC126862260	0	0	0	0	1	1
IFT172	0	0	0	1	0	1
IFT43	0	0	0	0	1	1
IGHMBP2, LOC126861245	0	0	0	0	1	1
IL1RAPL1	0	0	0	0	1	1
IL2RG	1	0	0	0	0	1
ILK, LOC130005201	0	0	0	1	0	1
INO80	0	0	1	0	0	1
IQCE	0	1	0	0	0	1
IRF8	0	0	0	1	0	1
ITGA2B	1	0	0	0	0	1
ITGA6, PDK1	0	0	0	1	0	1
ITGA7	0	0	0	1	0	1
IVD	0	0	0	0	1	1
IYD	0	0	0	0	1	1
JAK1, LOC126805749	0	0	0	1	0	1
JMJD1C	0	0	1	0	0	1
KALRN	0	0	0	1	0	1
KALRN, LOC129937406	0	0	1	0	0	1
KANK1	0	0	1	0	0	1
KANK2	0	0	0	1	0	1
KAT6A	0	0	0	1	0	1
KCNB1	0	0	0	1	0	1
KCNE1	0	0	0	0	1	1
KCNE2, LOC105372791	0	0	0	1	0	1
KCNE5	0	0	1	0	0	1
KCNH1	0	0	0	0	1	1
KCNJ2	0	0	1	0	0	1
KCNK9	0	0	0	0	1	1
KCNQ1	1	0	0	0	0	1
KDM5B	0	0	0	1	0	1
KDM5C, LOC130068308	0	0	1	0	0	1
KDR	0	0	0	0	1	1
KERA	0	0	0	0	1	1
KIF1A, LOC126806583	0	0	0	0	1	1
KIF5A	0	0	1	0	0	1
KIF7, LOC126862216	0	0	0	0	1	1
KIRREL3	0	0	1	0	0	1
KISS1	0	0	0	0	1	1
KISS1R	0	0	0	0	1	1
KLKB1	0	0	0	0	1	1
KLLN, PTEN	0	0	0	0	1	1
KRT1	0	0	0	1	0	1
KRT13	0	0	1	0	0	1
KRT6B	0	0	0	0	1	1
KRT85	0	0	1	0	0	1
KRT9	1	0	0	0	0	1
L2HGDH	1	0	0	0	0	1
LAMB1	0	0	1	0	0	1
LFNG	0	0	0	0	1	1
LGI1	0	0	0	0	1	1
LIG1	0	0	0	1	0	1
LITAF	0	0	0	0	1	1
LMBRD1	0	0	0	0	1	1
LOC100507346, PTCH1	0	0	0	1	0	1
LOC105369149, SBF2	0	0	0	0	1	1
LOC106029312, NCF1	0	0	1	0	0	1
LOC106694316, MPO	1	0	0	0	0	1
LOC107303340, VHL	0	0	0	1	0	1
LOC107372315, OSGEP	1	0	0	0	0	1
LOC108903148, OPTN	0	0	0	0	1	1
LOC110806263, TERT	0	0	0	1	0	1
LOC114827827, NPPA	0	0	1	0	0	1
LOC114827850, MYL2	1	0	0	0	0	1
LOC117038795, RNASEH2A	0	0	0	1	0	1
LOC121815964, NFKB2	0	0	0	0	1	1
LOC125371439, TSHZ1	0	0	0	0	1	1
LOC126805673, SLC9A1	0	0	0	1	0	1
LOC126806630, THRB	0	0	0	0	1	1
LOC126807124, MTTP	0	0	0	1	0	1
LOC126807392, MAP3K1	0	0	0	0	1	1
LOC126859827, TAB2	1	0	0	0	0	1
LOC126859836, SYNE1	0	0	1	0	0	1
LOC126859871, PRKN	0	0	0	0	1	1
LOC126861365, TBCEL-TECTA, TECTA	0	0	0	0	1	1
LOC126861538, MYO1A	0	0	0	1	0	1
LOC126861615, PAH	1	0	0	0	0	1
LOC126861897, MYH7	0	0	0	1	0	1
LOC126862422, MLYCD	0	0	0	1	0	1
LOC126862493, MYH8, MYHAS	0	0	0	0	1	1
LOC126862494, MYH8, MYHAS	0	0	0	0	1	1
LOC126862745, MYO5B, SNHG22	0	0	0	0	1	1
LOC126863253, UBA1	1	0	0	0	0	1
LOC127407129, RFX6	0	0	0	1	0	1
LOC129935184, TTN	0	0	0	1	0	1
LOC129935186, TTN	0	0	0	1	0	1
LOC129992813, PKD2	0	0	0	1	0	1
LOC129993734, RETREG1	0	0	0	0	1	1
LOC129993918, MAP3K1	0	0	0	0	1	1
LOC129995124, NIPAL4	0	0	0	0	1	1
LOC130001411, RECQL4	0	0	0	0	1	1
LOC130003098, SLC34A3	0	0	0	0	1	1
LOC130004109, VCL	0	0	0	1	0	1
LOC130004599, NFKB2	0	0	0	0	1	1
LOC130005193, SMPD1	0	0	0	1	0	1
LOC130005549, PDHX	0	0	0	0	1	1
LOC130007232, TNFRSF1A	0	0	0	0	1	1
LOC130009573, RFXAP	0	0	0	1	0	1
LOC130055403, TINF2	0	0	0	0	1	1
LOC130055850, MAX	0	0	0	1	0	1
LOC130056226, SPATA7	0	0	0	0	1	1
LOC130056709, NIPA1	0	0	0	0	1	1
LOC130057889, MESP1	0	0	0	0	1	1
LOC130059555, MLYCD	0	0	0	0	1	1
LOC130059718, ZNF469	0	0	0	0	1	1
LOC130059818, SPG7	0	0	0	1	0	1
LOC130060903, NAGLU	0	0	1	0	0	1
LOC130062254, MIB1	0	0	0	1	0	1
LOC130062255, MIB1	0	1	0	0	0	1
LOC130062899, STK11	0	0	0	0	1	1
LOC130066960, TXNRD2	0	0	0	1	0	1
LOC130067862, SCO2, TYMP	0	0	0	0	1	1
LOC130068494, TIMM8A	0	0	0	1	0	1
LOC130068621, NDUFA1	0	0	0	1	0	1
LOC130068854, MECP2	0	0	1	0	0	1
LPIN1	0	0	0	0	1	1
LYST	0	0	0	0	1	1
MAF, WWOX	0	0	0	0	1	1
MAGEL2	1	0	0	0	0	1
MAGT1	0	0	1	0	0	1
MANBA	0	0	1	0	0	1
MAOA	0	0	0	0	1	1
MAP3K7	1	0	0	0	0	1
MAP3K8	0	0	0	0	1	1
MAPK1	0	0	0	1	0	1
MAPT	0	0	0	1	0	1
MARS1	0	0	1	0	0	1
MCM4	0	0	1	0	0	1
MED13	0	0	1	0	0	1
MED13L	0	0	0	1	0	1
MEF2C	0	0	0	1	0	1
MFN2	1	0	0	0	0	1
MFSD8	0	0	1	0	0	1
MILR1, POLG2	0	0	0	0	1	1
MKS1	0	0	0	0	1	1
MLYCD	0	0	0	0	1	1
MMAA	0	0	0	0	1	1
MMAB	0	0	0	0	1	1
MMADHC	0	0	0	0	1	1
MMP21	1	0	0	0	0	1
MOCS2	0	0	1	0	0	1
MRE11	0	0	1	0	0	1
MRTFA	0	0	0	1	0	1
MS4A1	0	0	0	1	0	1
MSX1	0	0	1	0	0	1
MSX2	0	0	0	0	1	1
MTMR2	0	0	0	0	1	1
MTRFR	1	0	0	0	0	1
MUC5B	0	0	0	1	0	1
MUSK	0	0	0	0	1	1
MYH15	0	0	0	1	0	1
MYO1E	0	0	0	0	1	1
MYOT, PKD2L2-DT	0	0	0	0	1	1
NAT10	0	0	0	1	0	1
NDRG1	0	0	0	0	1	1
NDUFA11	0	0	1	0	0	1
NDUFAF2	0	0	0	1	0	1
NDUFAF6	0	0	0	1	0	1
NDUFS8	0	0	0	1	0	1
NECTIN1	0	0	0	0	1	1
NEFL	0	0	0	0	1	1
NEXMIF	0	0	0	1	0	1
NF2	0	0	0	1	0	1
NFKB2	0	0	0	0	1	1
NFKBIA	0	0	0	1	0	1
NFU1	0	0	0	0	1	1
NGF	0	0	0	0	1	1
NGLY1	1	0	0	0	0	1
NHERF1, SLC9A3R1	0	0	0	0	1	1
NIPA1	0	0	0	0	1	1
NKX2-1, SFTA3	0	0	0	0	1	1
NLRC4	0	0	0	1	0	1
NLRP1	0	0	0	1	0	1
NOP10	0	0	0	0	1	1
NPHP1	0	0	0	0	1	1
NPHS2	0	0	0	0	1	1
NR0B1	0	0	0	0	1	1
NR2E3	0	0	0	0	1	1
NR5A1	0	0	0	0	1	1
NTHL1, TSC2	1	0	0	0	0	1
NTNG1	0	0	0	0	1	1
NTRK1, SH2D2A	0	0	0	0	1	1
NUBPL	0	0	0	1	0	1
ODAD2	0	0	1	0	0	1
ODC1	0	0	0	1	0	1
OPHN1	0	0	0	1	0	1
OPN1LW	0	0	0	0	1	1
OPN1MW	0	0	0	0	1	1
ORC6	0	1	0	0	0	1
OTOA	0	0	0	0	1	1
P3H1	0	0	0	0	1	1
P3H2	0	0	0	0	1	1
PACS1	1	0	0	0	0	1
PAFAH1B1	0	0	0	0	1	1
PANK2	0	0	0	1	0	1
PAX5	0	0	1	0	0	1
PCARE	0	0	1	0	0	1
PCBD1	0	0	1	0	0	1
PCCB	0	0	0	1	0	1
PCDH11X	0	0	1	0	0	1
PCK1	0	0	0	0	1	1
PDCD10	0	0	0	1	0	1
PDE6A	0	0	0	1	0	1
PDE6B	0	0	0	0	1	1
PDSS1	0	0	0	0	1	1
PDYN	0	0	0	0	1	1
PEX12	0	0	0	1	0	1
PFKM	0	0	0	0	1	1
PHF8	0	0	0	0	1	1
PHGDH	0	0	0	0	1	1
PHKB	1	0	0	0	0	1
PI4KA	0	0	0	1	0	1
PIEZO2	0	0	1	0	0	1
PIGG	1	0	0	0	0	1
PIGL	1	0	0	0	0	1
PIGO	1	0	0	0	0	1
PIGV	0	1	0	0	0	1
PIK3CA	0	0	0	0	1	1
PIK3CD	1	0	0	0	0	1
PIK3R1	0	0	1	0	0	1
PIK3R5	0	0	0	1	0	1
PITX2	0	0	0	0	1	1
PKD1, TSC2	0	0	0	0	1	1
PKD2	0	0	0	1	0	1
PLA2G5	0	0	0	0	1	1
PLAA	1	0	0	0	0	1
PLD3, PRX	0	0	0	0	1	1
PLEKHM1	0	0	1	0	0	1
PLIN1	0	0	0	1	0	1
PLP1, RAB9B	0	0	0	0	1	1
PLXND1	0	0	1	0	0	1
PMP22	0	0	0	0	1	1
PNKD	0	0	0	1	0	1
POFUT1	0	0	0	1	0	1
POLR2F, SOX10	0	0	0	0	1	1
POMC	1	0	0	0	0	1
POMGNT1	1	0	0	0	0	1
POU1F1	1	0	0	0	0	1
POU3F4	0	0	0	0	1	1
PPARG	0	0	0	1	0	1
PPL	0	0	0	1	0	1
PPM1D	0	0	0	1	0	1
PPP1CB	1	0	0	0	0	1
PPP2R5D	1	0	0	0	0	1
PRDM16, PRDM16-DT	0	0	0	1	0	1
PRICKLE2	0	0	0	0	1	1
PRKCSH	0	0	0	0	1	1
PRKG1	0	0	1	0	0	1
PRNP	0	0	0	0	1	1
PROK2	0	0	0	1	0	1
PROKR2	0	0	0	0	1	1
PROS1	0	0	0	0	1	1
PRPF31	0	0	0	0	1	1
PSAT1	0	0	0	1	0	1
PSENEN	0	0	0	0	1	1
PTCH2	0	0	0	1	0	1
PTCHD1	0	0	0	1	0	1
PYCR1	0	0	0	0	1	1
PYGM	1	0	0	0	0	1
RAB27A	0	0	1	0	0	1
RAB39B	0	0	0	1	0	1
RAD21	0	0	0	1	0	1
RAD50	0	0	0	0	1	1
RANGRF, SLC25A35	0	0	0	0	1	1
RETREG1	0	0	0	0	1	1
RGN	0	0	0	1	0	1
RIGI	0	0	0	1	0	1
RMND1	0	1	0	0	0	1
RNASEH2A	0	0	1	0	0	1
RNF168	0	0	0	1	0	1
RNF31	0	0	1	0	0	1
ROGDI	0	0	0	1	0	1
ROM1	0	0	0	0	1	1
RP1	0	0	0	0	1	1
RSPH9	1	0	0	0	0	1
RSU1	0	0	0	1	0	1
RTTN	0	0	0	0	1	1
SAR1B	0	0	1	0	0	1
SBF1	0	0	0	1	0	1
SBF2	0	0	0	0	1	1
SCARB1	0	0	1	0	0	1
SCARB2	0	0	0	0	1	1
SCN10A	0	0	0	1	0	1
SCN2B	0	0	0	0	1	1
SCN4A	0	0	0	0	1	1
SCN4B	0	0	1	0	0	1
SCNN1B	0	0	0	0	1	1
SDHC	0	0	0	1	0	1
SEMA3E	0	0	0	1	0	1
SEMA4A	0	0	0	0	1	1
SERPINA7	0	0	0	0	1	1
SERPINE1	0	0	0	0	1	1
SERPINF1	0	0	0	0	1	1
SETD2	0	0	0	1	0	1
SETD5	1	0	0	0	0	1
SFTPB	1	0	0	0	0	1
SGCA	0	0	0	0	1	1
SGSH, SLC26A11	1	0	0	0	0	1
SH2B3	0	0	1	0	0	1
SH2D1A	0	0	0	1	0	1
SH3PXD2B	0	0	1	0	0	1
SH3TC2	0	0	0	0	1	1
SHOX	0	0	0	0	1	1
SHROOM3	0	0	0	1	0	1
SIL1	0	0	0	0	1	1
SIX3	0	0	0	0	1	1
SIX5	0	0	0	0	1	1
SKIC2	0	0	1	0	0	1
SLC11A2	0	0	0	0	1	1
SLC12A1	0	0	0	0	1	1
SLC16A2	0	0	0	1	0	1
SLC19A2	0	0	0	0	1	1
SLC1A2	0	0	1	0	0	1
SLC20A2	0	0	0	1	0	1
SLC25A13	0	0	0	0	1	1
SLC25A19	0	0	0	0	1	1
SLC25A22	0	0	0	1	0	1
SLC26A3	0	0	0	0	1	1
SLC26A5	0	0	0	0	1	1
SLC29A3	0	0	0	0	1	1
SLC30A10	0	0	0	1	0	1
SLC34A2	0	0	0	0	1	1
SLC35A1	0	0	0	1	0	1
SLC39A13	0	0	0	0	1	1
SLC3A1	0	0	0	0	1	1
SLC40A1	0	0	0	0	1	1
SLC4A1	0	0	0	0	1	1
SLC52A2	0	0	0	1	0	1
SLC5A5	0	0	0	0	1	1
SLC9A6	0	0	0	0	1	1
SLCO2A1	0	0	0	0	1	1
SMAD3	0	0	0	0	1	1
SMAD6	1	0	0	0	0	1
SMARCA1	0	0	1	0	0	1
SMARCAL1	0	0	0	0	1	1
SMARCB1	0	0	0	1	0	1
SMCHD1	0	0	1	0	0	1
SMS	0	0	0	1	0	1
SNCB	0	0	0	0	1	1
SNRNP200	0	0	0	0	1	1
SOBP	0	0	0	0	1	1
SORL1	0	0	1	0	0	1
SPART	0	0	0	1	0	1
SPTB	0	0	0	0	1	1
SPTLC1	0	0	0	0	1	1
SPTLC2	0	0	0	0	1	1
SRD5A3	0	0	1	0	0	1
SRP72	0	0	0	1	0	1
SRPX2	0	0	0	1	0	1
STRA6	0	0	1	0	0	1
STRADA	0	0	0	0	1	1
STUB1	0	0	1	0	0	1
SULF1	0	0	0	1	0	1
SUOX	0	0	0	0	1	1
SYNJ1	0	0	1	0	0	1
TACO1	0	0	0	1	0	1
TBCE	0	0	0	1	0	1
TBX19	1	0	0	0	0	1
TBX4	0	0	1	0	0	1
TBX6	0	0	0	1	0	1
TCF4	0	0	0	0	1	1
TELO2	0	0	0	1	0	1
TFAP2B	0	0	0	1	0	1
TFE3	1	0	0	0	0	1
TFG	0	0	0	0	1	1
TGFB1	0	0	0	0	1	1
TGFB2	0	0	0	0	1	1
TGIF1	0	0	0	0	1	1
TGM5	1	0	0	0	0	1
THAP1	0	0	0	1	0	1
THOC6	0	1	0	0	0	1
THPO	0	0	0	0	1	1
TICAM1	0	0	0	1	0	1
TK2	1	0	0	0	0	1
TLK2	0	0	0	1	0	1
TLR3	0	0	0	0	1	1
TLR4	0	0	1	0	0	1
TMC6, TMC8	0	0	0	0	1	1
TMEM127	0	0	0	1	0	1
TMEM231	0	0	0	0	1	1
TMEM240	0	0	1	0	0	1
TMEM260	1	0	0	0	0	1
TNNI2	0	0	0	0	1	1
TNNT3	0	0	0	0	1	1
TOP2B	0	0	1	0	0	1
TPM2	0	0	0	0	1	1
TRAF3IP2	0	0	0	1	0	1
TRAF6	0	0	0	0	1	1
TREM2	1	0	0	0	0	1
TRIO	0	1	0	0	0	1
TRNT1	0	0	0	1	0	1
TRPM6	0	0	0	0	1	1
TSEN34	0	0	0	0	1	1
TSHB	0	0	0	0	1	1
TSPAN12	0	0	0	0	1	1
TSPEAR	0	0	1	0	0	1
TTC19	0	0	0	1	0	1
TUBB2B	0	0	0	1	0	1
UMOD	0	0	0	0	1	1
UNG	0	0	1	0	0	1
UPB1	0	1	0	0	0	1
USB1	0	0	1	0	0	1
USF3	0	0	0	0	1	1
VAV1	0	0	1	0	0	1
VHL	0	0	0	1	0	1
VPS35	0	0	0	0	1	1
VSX2	0	0	0	0	1	1
VWA3B	0	0	1	0	0	1
WAC	1	0	0	0	0	1
WARS2	1	0	0	0	0	1
WASHC5	0	0	0	0	1	1
WDR45	0	0	0	1	0	1
WIPF1	0	0	1	0	0	1
WNT10B	0	0	0	0	1	1
WWOX	0	0	0	0	1	1
XG	0	0	0	1	0	1
XRCC4	1	0	0	0	0	1
XYLT1	0	0	1	0	0	1
ZBTB20	0	1	0	0	0	1
ZDHHC15	0	0	0	0	1	1
ZDHHC9	0	0	0	0	1	1
ZEB2	0	0	0	0	1	1
ZFPM2	0	0	1	0	0	1
ZFYVE27	0	0	0	0	1	1
ZIC2	0	0	1	0	0	1
ZMPSTE24	1	0	0	0	0	1
ZNF292	0	0	1	0	0	1
ZNF674	0	0	0	1	0	1

Condition and significance breakdown #

Total conditions: 451

Download table as spreadsheet

Condition	pathogenic	likely pathogenic	uncertain significance	likely benign	benign	total
not provided	659	149	1100	2303	0	4211
not specified	0	0	0	0	2483	2483
Breast-ovarian cancer, familial, susceptibility to, 2	75	1	4	11	45	136
Breast-ovarian cancer, familial, susceptibility to, 1	63	0	0	9	27	99
Hypertrophic cardiomyopathy 4	15	2	10	10	15	52
Dilated cardiomyopathy 1JJ	0	0	4	24	9	37
Fraser syndrome 1	0	0	0	1	33	34
Dilated cardiomyopathy 1DD	0	0	3	20	5	28
Dilated cardiomyopathy 1AA	0	0	4	17	3	24
Hypercholesterolemia, familial, 1	13	1	0	5	5	24
Arrhythmogenic right ventricular dysplasia 9	6	0	5	8	3	22
Dilated cardiomyopathy 1KK	0	0	3	17	1	21
Microcephalic osteodysplastic primordial dwarfism type II	0	0	0	5	15	20
Bardet-Biedl syndrome 1	1	0	0	2	16	19
Brittle cornea syndrome 1	0	0	0	0	18	18
Lynch syndrome 5	4	0	0	5	9	18
Niemann-Pick disease, type C1	1	0	0	8	9	18
VPS13A-related neurodegenerative disease	0	0	1	14	2	17
Glycogen storage disease, type II	0	0	0	0	16	16
Arrhythmogenic right ventricular dysplasia 11	0	2	2	5	6	15
Microcephaly 5, primary, autosomal recessive	0	0	0	1	14	15
Occipital pachygyria and polymicrogyria	0	0	0	2	13	15
Hypercholesterolemia, autosomal dominant, 3	0	0	0	3	11	14
Lynch syndrome 4	1	0	0	3	10	14
Wilson disease	0	0	2	5	7	14
Norman-Roberts syndrome	0	0	0	3	10	13
Adams-Oliver syndrome 2	0	0	0	0	12	12
Hypertrophic cardiomyopathy 17	0	0	1	9	2	12
Merosin deficient congenital muscular dystrophy	0	0	0	1	11	12
Aortic valve disease 1	0	0	0	6	5	11
Long QT syndrome 11	0	0	0	0	11	11
Neuroblastoma, susceptibility to, 3	0	0	0	2	9	11
Colorectal cancer, hereditary nonpolyposis, type 2	2	0	1	2	5	10
Congenital total pulmonary venous return anomaly	0	0	1	5	4	10
Ehlers-Danlos syndrome, dermatosparaxis type	0	0	0	0	10	10
Emery-Dreifuss muscular dystrophy 5, autosomal dominant	0	0	0	2	8	10
Galactosylceramide beta-galactosidase deficiency	1	0	0	0	9	10
Kufor-Rakeb syndrome	0	0	0	6	4	10
Weill-Marchesani 4 syndrome, recessive	0	0	0	0	10	10
Geleophysic dysplasia 1	0	0	0	3	6	9
Lynch syndrome 1	2	0	0	2	5	9
Microcephaly 1, primary, autosomal recessive	0	0	0	0	9	9
Primary ciliary dyskinesia 15	0	0	0	0	9	9
Ataxia-telangiectasia syndrome	0	0	3	3	2	8
Autosomal recessive distal spinal muscular atrophy 1	0	0	0	0	8	8
Deficiency of iodide peroxidase	0	0	0	0	8	8
Hypertrophic cardiomyopathy 19	0	0	2	4	2	8
Left ventricular noncompaction 1	0	0	1	6	1	8
Mucopolysaccharidosis, MPS-III-A	6	0	0	0	2	8
Cardiac arrhythmia, ankyrin-B-related	0	0	0	1	6	7
Epilepsy, childhood absence, susceptibility to, 6	0	0	0	0	7	7
Glycine encephalopathy	0	1	0	2	4	7
Hereditary sensory and autonomic neuropathy type 6	0	0	0	1	6	7
Microcephaly 2, primary, autosomal recessive, with or without cortical malformations	0	0	0	1	6	7
Nephrotic syndrome, type 3	0	0	0	0	7	7
PMM2-congenital disorder of glycosylation	4	0	0	0	3	7
Phenylketonuria	4	1	0	0	2	7
Retinitis pigmentosa 25	0	0	0	0	7	7
X-linked progressive cerebellar ataxia	0	0	0	1	6	7
46,XY sex reversal 6	0	0	0	0	6	6
Abetalipoproteinaemia	0	0	0	4	2	6
Aortic aneurysm, familial thoracic 7	0	0	0	0	6	6
Autosomal recessive ataxia due to ubiquinone deficiency	0	0	0	1	5	6
Autosomal recessive polycystic kidney disease	1	0	0	1	4	6
Danon disease	0	0	0	5	1	6
Developmental and epileptic encephalopathy, 12	0	0	0	0	6	6
Hereditary spastic paraplegia 11	0	0	0	3	3	6
Hereditary spherocytosis type 1	0	0	0	0	6	6
Hypertrophic cardiomyopathy 10	1	0	0	3	2	6
Knobloch syndrome	0	0	0	0	6	6
Mucopolysaccharidosis, MPS-III-B	2	0	0	1	3	6
Parkinsonian-pyramidal syndrome	0	0	1	2	3	6
Saldino-Mainzer syndrome	0	0	0	0	6	6
Agenesis of the corpus callosum with peripheral neuropathy	1	1	0	0	3	5
Autosomal dominant slowed nerve conduction velocity	0	0	0	0	5	5
Autosomal recessive nonsyndromic hearing loss 3	0	0	0	0	5	5
Autosomal recessive spinocerebellar ataxia 10	0	0	0	1	4	5
Autosomal recessive spinocerebellar ataxia 13	0	0	0	0	5	5
Charlevoix-Saguenay spastic ataxia	0	0	1	1	3	5
Cutis laxa with severe pulmonary, gastrointestinal and urinary anomalies	0	0	0	0	5	5
Developmental and epileptic encephalopathy, 4	0	0	0	5	0	5
Familial hemophagocytic lymphohistiocytosis 3	0	0	0	0	5	5
Hereditary sensory and autonomic neuropathy with spastic paraplegia	0	0	0	0	5	5
Hypertrophic cardiomyopathy 16	0	0	1	3	1	5
Infantile cerebral and cerebellar atrophy with postnatal progressive microcephaly	0	0	0	0	5	5
Methylmalonic aciduria due to methylmalonyl-CoA mutase deficiency	0	0	1	1	3	5
Parkinson disease 11, autosomal dominant, susceptibility to	0	0	0	0	5	5
Primary ciliary dyskinesia 10	0	0	0	0	5	5
Primary ciliary dyskinesia 2	0	0	0	0	5	5
Spinocerebellar ataxia type 14	0	0	2	0	3	5
Spinocerebellar ataxia type 35	0	0	0	0	5	5
Thyroglobulin synthesis defect	0	0	0	0	5	5
Thyroid dyshormonogenesis 6	1	0	0	0	4	5
3-Methylglutaconic aciduria type 2	0	0	0	4	0	4
Catecholaminergic polymorphic ventricular tachycardia 2	0	0	0	0	4	4
Charcot-Marie-Tooth disease axonal type 2P	0	0	0	0	4	4
Classic dopamine transporter deficiency syndrome	0	0	0	2	2	4
Cohen syndrome	0	0	0	1	3	4
Colorectal cancer, susceptibility to, 10	0	0	0	4	0	4
Congenital contractural arachnodactyly	0	0	0	0	4	4
Congenital hyperammonemia, type I	0	0	0	0	4	4
Congenital microvillous atrophy	0	0	0	0	4	4
Deficiency of ferroxidase	0	0	1	2	1	4
Developmental and epileptic encephalopathy, 2	0	0	0	4	0	4
Developmental and epileptic encephalopathy, 9	0	0	0	3	1	4
Dihydropteridine reductase deficiency	0	0	0	3	1	4
Familial acute necrotizing encephalopathy	1	0	0	2	1	4
Finnish congenital nephrotic syndrome	0	0	0	0	4	4
Glutaric aciduria, type 1	0	0	0	2	2	4
Hydatidiform mole, recurrent, 1	0	0	0	0	4	4
Intellectual disability, autosomal dominant 6	0	0	0	3	1	4
Isolated lutropin deficiency	0	0	0	0	4	4
Joubert syndrome 17	0	0	0	0	4	4
Left ventricular noncompaction 7	0	0	1	3	0	4
Legius syndrome	0	0	0	0	4	4
Li-Fraumeni syndrome 1	0	0	0	0	4	4
MPI-congenital disorder of glycosylation	0	0	0	1	3	4
Meckel syndrome, type 8	0	0	0	0	4	4
Microcephaly and chorioretinopathy 1	0	0	0	0	4	4
Microcephaly, seizures, and developmental delay	0	0	0	4	0	4
Myopathy, proximal, and ophthalmoplegia	0	0	0	0	4	4
Osteogenesis imperfecta type 7	0	0	0	0	4	4
Posterior column ataxia-retinitis pigmentosa syndrome	0	0	0	0	4	4
Primary ciliary dyskinesia 9	0	0	0	0	4	4
Purine-nucleoside phosphorylase deficiency	0	0	0	0	4	4
Rotor syndrome	0	0	0	0	4	4
Wolcott-Rallison dysplasia	0	0	0	0	4	4
Woodhouse-Sakati syndrome	0	0	0	0	4	4
Acute intermittent porphyria	0	0	0	0	3	3
Aicardi-Goutieres syndrome 3	0	0	0	3	0	3
Alstrom syndrome	0	0	0	1	2	3
Amyotrophic neuralgia	0	0	0	0	3	3
Aortic aneurysm, familial thoracic 4	0	0	0	0	3	3
Arginine:glycine amidinotransferase deficiency	0	0	0	1	2	3
Aspartylglucosaminuria	0	1	0	0	2	3
Autosomal recessive DOPA responsive dystonia	0	0	0	3	0	3
Camptodactyly-arthropathy-coxa vara-pericarditis syndrome	0	0	0	0	3	3
Chromosome 2q37 deletion syndrome	0	0	1	2	0	3
Coenzyme Q10 deficiency, primary, 1	0	0	0	0	3	3
Congenital cataracts-facial dysmorphism-neuropathy syndrome	0	0	0	0	3	3
Deficiency of alpha-mannosidase	0	0	0	0	3	3
Deficiency of aromatic-L-amino-acid decarboxylase	0	0	0	2	1	3
Deficiency of malonyl-CoA decarboxylase	0	0	0	1	2	3
Donnai-Barrow syndrome	0	0	0	2	1	3
Eichsfeld type congenital muscular dystrophy	0	0	0	0	3	3
Fabry disease	0	0	1	2	0	3
Familial dysautonomia	2	0	0	0	1	3
Fanconi anemia complementation group D2	0	0	0	1	2	3
Hereditary spastic paraplegia 51	0	0	0	0	3	3
Hereditary spastic paraplegia 7	1	0	0	0	2	3
Heterotaxy, visceral, 4, autosomal	0	0	0	0	3	3
Hypertrophic cardiomyopathy 1	0	0	0	3	0	3
Joubert syndrome 3	0	0	0	1	2	3
Lafora disease	1	0	0	0	2	3
Landau-Kleffner syndrome	0	0	0	3	0	3
Mandibulofacial dysostosis-microcephaly syndrome	0	0	0	0	3	3
Maple syrup urine disease	0	0	0	0	3	3
Methylmalonic aciduria, cblB type	0	0	0	0	3	3
Microcephaly 3, primary, autosomal recessive	0	0	0	0	3	3
Microcephaly 7, primary, autosomal recessive	0	0	0	0	3	3
Mucopolysaccharidosis, MPS-IV-A	1	0	0	0	2	3
Multiple congenital anomalies-hypotonia-seizures syndrome 1	0	0	0	0	3	3
Multiple cutaneous and mucosal venous malformations	0	0	0	0	3	3
Neuronal ceroid lipofuscinosis 1	1	0	0	1	1	3
Neuronal ceroid lipofuscinosis 2	2	0	0	0	1	3
Neuronal ceroid lipofuscinosis 5	0	1	0	1	1	3
Obesity due to leptin receptor gene deficiency	0	0	0	0	3	3
Oculofaciocardiodental syndrome	0	0	0	0	3	3
Parkinson disease 18, autosomal dominant, susceptibility to	0	0	0	0	3	3
Phytanic acid storage disease	0	0	0	0	3	3
Renal hypodysplasia/aplasia 1	0	0	0	0	3	3
Sinoatrial node dysfunction and deafness	0	0	0	0	3	3
Smith-Lemli-Opitz syndrome	2	0	0	0	1	3
Spinocerebellar ataxia type 13	1	0	0	1	1	3
Spinocerebellar ataxia type 5	0	0	0	2	1	3
Sulfite oxidase deficiency due to molybdenum cofactor deficiency type A	0	0	0	3	0	3
Tay-Sachs disease	0	0	0	1	2	3
Telangiectasia, hereditary hemorrhagic, type 1	0	0	0	2	1	3
Townes-Brocks syndrome 1	0	0	0	0	3	3
Tyrosinemia type I	0	0	0	1	2	3
X-linked Emery-Dreifuss muscular dystrophy	0	0	1	2	0	3
X-linked central congenital hypothyroidism with late-onset testicular enlargement	0	0	0	0	3	3
ALDH18A1-related de Barsy syndrome	0	0	0	1	1	2
ALG6-congenital disorder of glycosylation 1C	1	0	0	0	1	2
ALG8 congenital disorder of glycosylation	0	0	0	0	2	2
Aarskog syndrome	0	0	0	2	0	2
Aicardi-Goutieres syndrome 2	1	0	0	1	0	2
Alpha-1-antitrypsin deficiency	1	0	0	0	1	2
Amelogenesis imperfecta, hypocalcification type	0	0	0	0	2	2
Ataxia, early-onset, with oculomotor apraxia and hypoalbuminemia	0	0	0	1	1	2
Atrial septal defect 4	0	0	0	1	1	2
Autosomal dominant nocturnal frontal lobe epilepsy 1	0	0	0	0	2	2
Autosomal dominant nonsyndromic hearing loss 2A	0	0	0	0	2	2
Autosomal recessive congenital ichthyosis 11	0	0	0	0	2	2
Autosomal recessive spinocerebellar ataxia 11	0	0	0	0	2	2
Bamforth-Lazarus syndrome	0	0	0	0	2	2
Biotin-responsive basal ganglia disease	0	0	0	2	0	2
Brody myopathy	0	0	0	0	2	2
Bruck syndrome 2	0	0	0	0	2	2
Brugada syndrome 4	0	0	0	0	2	2
CEDNIK syndrome	0	0	0	0	2	2
Cardiofaciocutaneous syndrome 4	0	0	0	0	2	2
Cerebellar ataxia, intellectual disability, and dysequilibrium syndrome 2	0	0	0	0	2	2
Charcot-Marie-Tooth disease axonal type 2N	0	0	0	0	2	2
Charcot-Marie-Tooth disease type 4B2	0	0	0	0	2	2
Charcot-Marie-Tooth disease type 4H	0	0	0	0	2	2
Cholestanol storage disease	0	0	0	1	1	2
Classic homocystinuria	0	0	0	0	2	2
Congenital muscular dystrophy with intellectual disability and severe epilepsy	0	0	0	0	2	2
Creatine transporter deficiency	0	0	0	1	1	2
Cystic leukoencephalopathy without megalencephaly	0	0	0	0	2	2
Dihydropyrimidine dehydrogenase deficiency	0	0	0	0	2	2
Dilated cardiomyopathy 2B	0	0	0	1	1	2
Distal arthrogryposis type 2B1	0	0	0	0	2	2
Ectopia lentis et pupillae	0	0	0	0	2	2
Ehlers-Danlos syndrome progeroid type	0	0	0	0	2	2
FOXG1 disorder	0	0	0	2	0	2
Familial hypokalemia-hypomagnesemia	0	0	0	0	2	2
Familial isolated deficiency of vitamin E	1	0	0	0	1	2
Frontotemporal dementia and/or amyotrophic lateral sclerosis 1	0	0	0	0	2	2
Galloway-Mowat syndrome 1	0	0	0	0	2	2
Goldberg-Shprintzen syndrome	0	0	0	0	2	2
Hereditary angioedema type 1	0	0	0	0	2	2
Hereditary coproporphyria	0	0	0	0	2	2
Hereditary pancreatitis	0	0	0	0	2	2
Hyper-IgM syndrome type 1	0	0	0	0	2	2
Hyper-IgM syndrome type 2	0	0	0	0	2	2
Hyperalphalipoproteinemia 1	0	0	0	0	2	2
Hyperammonemia, type III	0	0	0	0	2	2
Hyperekplexia 3	0	0	0	0	2	2
Hypertrophic cardiomyopathy 8	0	0	0	2	0	2
Immunodeficiency 18	0	0	0	1	1	2
Immunodeficiency 27A	0	0	0	0	2	2
Infantile nephronophthisis	0	0	0	0	2	2
Intellectual disability, X-linked 1	0	0	0	1	1	2
Intellectual disability, autosomal dominant 14	0	0	0	2	0	2
Intellectual disability, autosomal dominant 5	1	0	0	1	0	2
Malignant tumor of esophagus	0	0	0	0	2	2
Megalencephaly-polymicrogyria-polydactyly-hydrocephalus syndrome 1	0	0	0	0	2	2
Meier-Gorlin syndrome 4	0	0	0	0	2	2
Mucopolysaccharidosis, MPS-III-D	0	0	0	0	2	2
Multiple endocrine neoplasia type 4	0	0	0	2	0	2
Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A, 7	0	0	0	0	2	2
Netherton syndrome	0	0	0	2	0	2
Neurodegeneration with brain iron accumulation 4	0	0	0	1	1	2
Neuronal ceroid lipofuscinosis 10	0	0	0	2	0	2
Neuronopathy, distal hereditary motor, type 2C	0	0	0	0	2	2
Obesity	1	0	0	1	0	2
Osteogenesis imperfecta type 12	0	0	0	0	2	2
Paget disease of bone 2, early-onset	0	0	0	0	2	2
Persistent Mullerian duct syndrome	0	0	0	0	2	2
Pontocerebellar hypoplasia type 1A	0	0	0	0	2	2
Porencephaly-microcephaly-bilateral congenital cataract syndrome	0	0	0	1	1	2
Primary ciliary dyskinesia 13	0	0	0	0	2	2
Primary ciliary dyskinesia 14	0	0	0	0	2	2
Progressive myoclonic epilepsy type 6	1	0	0	0	1	2
Propionic acidemia	0	0	0	0	2	2
Protoporphyria, erythropoietic, 1	0	0	0	0	2	2
Pyruvate dehydrogenase E2 deficiency	0	0	0	2	0	2
Pyruvate dehydrogenase E3 deficiency	0	0	0	0	2	2
Renal coloboma syndrome	0	0	0	0	2	2
Retinitis pigmentosa 26	0	0	0	0	2	2
SKIN/HAIR/EYE PIGMENTATION 1, BLUE/NONBLUE EYES	0	0	2	0	0	2
Senior-Loken syndrome 7	0	0	0	0	2	2
Snijders blok-fisher syndrome	0	1	1	0	0	2
Spastic ataxia 4	0	0	0	0	2	2
Telangiectasia, hereditary hemorrhagic, type 2	0	0	0	1	1	2
Tooth agenesis, selective, 3	0	0	0	0	2	2
Van den Ende-Gupta syndrome	0	0	0	0	2	2
Vesicoureteral reflux 2	0	0	0	0	2	2
Wagner disease	0	0	0	0	2	2
Warburg micro syndrome 1	0	0	0	0	2	2
Acne inversa, familial, 2	0	0	0	0	1	1
Action myoclonus-renal failure syndrome	0	0	0	0	1	1
Adrenoleukodystrophy	0	0	1	0	0	1
Amelocerebrohypohidrotic syndrome	0	0	0	1	0	1
Angelman syndrome	0	0	0	0	1	1
Apolipoprotein c-III deficiency	0	0	0	0	1	1
Arginase deficiency	0	0	0	0	1	1
Atrial fibrillation, familial, 7	0	0	0	0	1	1
Autism, susceptibility to, 17	0	0	0	1	0	1
Autosomal dominant auditory neuropathy 1	0	0	0	0	1	1
Autosomal dominant nocturnal frontal lobe epilepsy 3	0	0	0	1	0	1
Autosomal dominant nocturnal frontal lobe epilepsy 4	0	0	0	1	0	1
Autosomal dominant nonsyndromic hearing loss 1	0	0	0	0	1	1
Autosomal dominant nonsyndromic hearing loss 9	0	0	0	0	1	1
Autosomal recessive hypophosphatemic bone disease	0	0	0	0	1	1
Autosomal recessive limb-girdle muscular dystrophy type 2C	0	0	0	0	1	1
Autosomal recessive limb-girdle muscular dystrophy type 2P	0	0	0	0	1	1
Autosomal recessive nonsyndromic hearing loss 28	0	0	0	0	1	1
Bietti crystalline corneoretinal dystrophy	0	0	0	0	1	1
Biotinidase deficiency	0	0	0	0	1	1
Bloom syndrome	0	0	0	0	1	1
Branchiootorenal syndrome 2	0	0	0	0	1	1
CBL-related disorder	0	0	0	0	1	1
Capillary infantile hemangioma	0	0	0	0	1	1
Carnitine palmitoyl transferase 1A deficiency	0	0	0	0	1	1
Cayman type cerebellar ataxia	0	0	1	0	0	1
Cerebral folate transport deficiency	0	0	0	1	0	1
Charcot-Marie-Tooth disease type 1C	0	0	0	0	1	1
Charcot-Marie-Tooth disease type 4B1	0	0	0	0	1	1
Charcot-Marie-Tooth disease type 4D	0	0	0	0	1	1
Christianson syndrome	0	0	0	0	1	1
Citrullinemia type I	0	0	0	0	1	1
Cleft lip/palate-ectodermal dysplasia syndrome	0	0	0	0	1	1
Congenital sensory neuropathy with selective loss of small myelinated fibers	0	0	0	0	1	1
Cornelia de Lange syndrome 1	0	0	0	1	0	1
Cranioectodermal dysplasia 1	0	0	0	0	1	1
Cutis laxa, autosomal recessive, type 1B	0	0	0	0	1	1
Deafness-intellectual disability, Martin-Probst type syndrome	0	0	0	0	1	1
Deficiency of guanidinoacetate methyltransferase	0	0	0	0	1	1
Developmental and epileptic encephalopathy, 41	0	0	1	0	0	1
Developmental and epileptic encephalopathy, 5	0	0	0	1	0	1
Diabetes insipidus, nephrogenic, autosomal	0	0	0	0	1	1
Dyskeratosis congenita, X-linked	0	0	0	1	0	1
Dystonia 16	0	0	0	1	0	1
Dystonia 24	0	0	0	1	0	1
Early-onset generalized limb-onset dystonia	0	0	0	1	0	1
Ectodermal dysplasia and immunodeficiency 2	0	0	0	1	0	1
Efavirenz response	0	0	0	0	1	1
Endometrial carcinoma	0	0	0	0	1	1
Epidermolysis bullosa, junctional 7, with interstitial lung disease and nephrotic syndrome	0	0	0	0	1	1
Epilepsy, idiopathic generalized, susceptibility to, 10	0	0	0	1	0	1
Epilepsy, idiopathic generalized, susceptibility to, 11	0	0	0	0	1	1
Episodic ataxia type 1	0	0	0	0	1	1
Familial cold autoinflammatory syndrome 2	0	0	0	0	1	1
Familial hemophagocytic lymphohistiocytosis 2	0	0	0	0	1	1
Familial hemophagocytic lymphohistiocytosis 5	0	0	0	0	1	1
Fibrous dysplasia of jaw	0	0	0	0	1	1
Focal segmental glomerulosclerosis 1	0	0	0	0	1	1
Focal segmental glomerulosclerosis 3, susceptibility to	0	0	0	0	1	1
Friedreich ataxia 1	0	0	0	0	1	1
Generalized epilepsy-paroxysmal dyskinesia syndrome	0	0	0	0	1	1
Glucocorticoid deficiency 4	1	0	0	0	0	1
Glycogen storage disease IXa1	0	0	0	1	0	1
Glycogen storage disease type III	0	0	0	0	1	1
Hennekam lymphangiectasia-lymphedema syndrome 1	0	0	0	0	1	1
Hereditary spastic paraplegia 15	0	0	0	1	0	1
Hereditary spastic paraplegia 35	0	0	0	0	1	1
Hereditary spastic paraplegia 39	0	0	0	1	0	1
Hereditary spastic paraplegia 4	0	0	0	1	0	1
Hereditary spastic paraplegia 47	0	0	0	1	0	1
Hereditary spastic paraplegia 6	0	0	0	0	1	1
Hereditary xanthinuria type 1	0	0	0	0	1	1
Holoprosencephaly 9	0	0	0	0	1	1
Holt-Oram syndrome	0	0	0	0	1	1
Hydrocephalus, nonsyndromic, autosomal recessive 1	0	0	0	1	0	1
Hyper-IgM syndrome type 3	0	0	0	0	1	1
Hypercalcemia, infantile, 1	0	0	0	0	1	1
Hypercholesterolemia, familial, 4	0	0	0	0	1	1
Hyperekplexia 1	0	0	0	0	1	1
Hypophosphatemic nephrolithiasis/osteoporosis 2	0	0	0	0	1	1
Idiopathic basal ganglia calcification 1	0	0	0	1	0	1
Immunodeficiency 104	0	0	0	0	1	1
Immunodeficiency 51	0	0	0	0	1	1
Immunodeficiency 83, susceptibility to viral infections	0	0	0	0	1	1
Immunodeficiency-centromeric instability-facial anomalies syndrome 1	0	0	0	1	0	1
Infantile-onset X-linked spinal muscular atrophy	0	0	0	0	1	1
Inflammatory bowel disease 28	0	0	0	0	1	1
Intellectual disability, X-linked 46	0	0	0	1	0	1
Intellectual disability, X-linked 88	0	0	0	1	0	1
Intellectual disability, X-linked 93	0	0	0	1	0	1
Intellectual disability, autosomal recessive 18	0	0	0	0	1	1
Intellectual disability, autosomal recessive 3	0	0	1	0	0	1
Iodotyrosine deiodination defect	0	0	0	0	1	1
Isolated thyroid-stimulating hormone deficiency	0	0	0	0	1	1
Isovaleryl-CoA dehydrogenase deficiency	0	0	0	0	1	1
Joubert syndrome 20	0	0	0	0	1	1
Joubert syndrome 8	0	0	0	0	1	1
Kabuki syndrome 1	0	0	0	0	1	1
Kabuki syndrome 2	0	0	0	1	0	1
Kartagener syndrome	0	0	0	0	1	1
Leukocyte adhesion deficiency 3	0	0	0	1	0	1
Loeys-Dietz syndrome 4	0	0	0	0	1	1
Lysosomal acid lipase deficiency	0	0	0	0	1	1
MHC class II deficiency	0	0	0	1	0	1
Marinesco-Sjögren syndrome	0	0	0	0	1	1
Meckel syndrome, type 10	0	0	0	0	1	1
Meckel syndrome, type 9	0	0	0	0	1	1
Medulloblastoma	0	0	0	1	0	1
Methylmalonic acidemia with homocystinuria, type cblX	0	0	0	1	0	1
Methylmalonic aciduria and homocystinuria type cblD	0	0	0	0	1	1
Methylmalonic aciduria and homocystinuria type cblF	0	0	0	0	1	1
Methylmalonic aciduria, cblA type	0	0	0	0	1	1
Microcephaly 8, primary, autosomal recessive	1	0	0	0	0	1
Mitochondrial DNA depletion syndrome 3 (hepatocerebral type)	0	0	0	0	1	1
Mitochondrial complex I deficiency	0	0	0	1	0	1
Mitochondrial complex III deficiency nuclear type 2	0	0	0	1	0	1
Mowat-Wilson syndrome	0	0	0	0	1	1
Mucopolysaccharidosis, MPS-II	0	0	0	0	1	1
Mucopolysaccharidosis, MPS-III-C	0	0	0	0	1	1
Myoclonic dystonia 11	0	0	0	0	1	1
Nemaline myopathy 2	0	0	0	0	1	1
Nemaline myopathy 5	0	0	0	0	1	1
Nephrotic syndrome, type 2	0	0	0	0	1	1
Neurodegeneration with brain iron accumulation 5	0	0	0	1	0	1
Neuropathy, hereditary sensory and autonomic, type 1A	0	0	0	0	1	1
Neuropathy, hereditary sensory and autonomic, type 1C	0	0	0	0	1	1
Neuropathy, hereditary sensory and autonomic, type 2B	0	0	0	0	1	1
Niemann-Pick disease, type C2	0	0	0	1	0	1
Nijmegen breakage syndrome-like disorder	0	0	0	0	1	1
Ogden syndrome	1	0	0	0	0	1
Osteogenesis imperfecta type 5	0	0	0	0	1	1
Osteogenesis imperfecta type 6	0	0	0	0	1	1
PHARC syndrome	0	0	0	0	1	1
PHGDH deficiency	0	0	0	0	1	1
Pachyonychia congenita 2	0	0	0	0	1	1
Paroxysmal nonkinesigenic dyskinesia 1	0	0	0	1	0	1
Periventricular heterotopia with microcephaly, autosomal recessive	0	0	0	0	1	1
Pheochromocytoma	0	0	0	1	0	1
Phosphoenolpyruvate carboxykinase deficiency, cytosolic	0	0	0	0	1	1
Pituitary hormone deficiency, combined, 2	0	0	0	0	1	1
Polycystic lipomembranous osteodysplasia with sclerosing leukoencephalopathy 1	1	0	0	0	0	1
Polyhydramnios, megalencephaly, and symptomatic epilepsy	0	0	0	0	1	1
Pontocerebellar hypoplasia type 1B	0	0	0	0	1	1
Porphobilinogen synthase deficiency	0	0	0	0	1	1
Primary ciliary dyskinesia 19	0	0	0	0	1	1
Progressive myoclonic epilepsy type 5	0	0	0	0	1	1
Prolidase deficiency	0	0	0	0	1	1
Proteasome-associated autoinflammatory syndrome 1	0	0	0	0	1	1
Pyridoxine-dependent epilepsy	0	0	0	1	0	1
Retinitis pigmentosa 28	0	0	0	0	1	1
Retinitis pigmentosa 45	0	0	0	0	1	1
Rolandic epilepsy, intellectual disability, and speech dyspraxia, X-linked	0	0	0	1	0	1
Sandhoff disease	0	0	1	0	0	1
Seizures, benign familial neonatal, 2	1	0	0	0	0	1
Severe X-linked myotubular myopathy	0	0	0	0	1	1
Short stature-pituitary and cerebellar defects-small sella turcica syndrome	0	0	0	0	1	1
Short-rib thoracic dysplasia 6 with or without polydactyly	0	0	0	0	1	1
Shwachman-Diamond syndrome 1	0	0	0	0	1	1
Sjögren-Larsson syndrome	0	0	0	1	0	1
Smith-Magenis syndrome	0	0	0	0	1	1
Spinocerebellar ataxia type 17	0	0	0	1	0	1
Spinocerebellar ataxia type 23	0	0	0	0	1	1
Spondyloepiphyseal dysplasia with congenital joint dislocations	0	0	0	0	1	1
Steinert myotonic dystrophy syndrome	0	0	0	0	1	1
Structural heart defects and renal anomalies syndrome	1	0	0	0	0	1
Succinate-semialdehyde dehydrogenase deficiency	0	0	0	0	1	1
Sulfite oxidase deficiency	0	0	0	0	1	1
Syndromic X-linked intellectual disability 94	0	0	0	0	1	1
Syndromic X-linked intellectual disability Snyder type	0	0	0	1	0	1
Thyroid dyshormonogenesis 1	0	0	0	0	1	1
Usher syndrome type 3B	0	0	0	0	1	1
Weill-Marchesani syndrome 1	0	0	0	0	1	1
X-linked chondrodysplasia punctata 1	0	0	0	1	0	1
X-linked intellectual disability Cabezas type	0	0	0	1	0	1
X-linked intellectual disability, Stocco dos Santos type	0	0	0	1	0	1
X-linked intellectual disability-cerebellar hypoplasia syndrome	0	0	0	1	0	1
X-linked lymphoproliferative disease due to XIAP deficiency	0	0	0	0	1	1
Xeroderma pigmentosum variant type	0	0	0	0	1	1
Xeroderma pigmentosum, group G	0	0	1	0	0	1

The information on this website is not intended for direct diagnostic use or medical decision-making without review by a genetics professional. Individuals should not change their health behavior solely on the basis of information contained on this website. The submitted information has not been verified. If you have questions about the information contained on this website, please see a health care professional.