ClinVar Miner

Variants from Center for Pediatric Genomic Medicine, Children's Mercy Hospital and Clinics

Location: United States  Primary collection method: clinical testing
Minimum submission review status: Collection method:
Minimum conflict level:
Gene type:
ClinVar version:

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 drug response total
374 173 994 1851 578 5 3975

Gene and significance breakdown #

Total genes and gene combinations: 1637
Download table as spreadsheet
Gene or gene combination pathogenic likely pathogenic uncertain significance likely benign benign drug response total
ADGRV1 0 1 8 14 7 0 30
ALMS1 0 0 8 12 7 0 27
KMT2D 3 1 8 9 5 0 26
CFTR 12 4 2 3 3 0 24
MT-ND5 1 0 4 13 2 0 20
TSC2 1 1 4 9 5 0 20
VPS13B 0 0 4 12 3 0 19
BRCA2 0 0 2 8 7 0 17
MT-ATP6 0 0 6 10 1 0 17
PKHD1 5 0 4 5 3 0 17
ARID1B 1 0 3 9 3 0 16
MT-CYB 0 0 2 11 3 0 16
CEP290 0 0 9 6 0 0 15
KCNT1 1 0 3 11 0 0 15
POLG 5 1 3 4 1 0 14
TTN 1 0 6 6 1 0 14
ANKRD11 0 1 0 11 1 0 13
LAMC3 0 0 5 8 0 0 13
MT-CO1 0 0 3 8 2 0 13
MT-ND1 0 0 2 9 2 0 13
COL6A3 1 0 4 4 3 0 12
FLNA 0 0 2 8 2 0 12
LAMA2 1 0 2 7 2 0 12
LRP2 0 0 4 6 2 0 12
MECP2 4 0 1 4 3 0 12
SCN1A, SCN9A 0 0 3 7 2 0 12
ZEB2 2 0 0 4 6 0 12
ASPM 0 1 1 5 4 0 11
CACNA1H 0 0 4 7 0 0 11
HERC2 0 0 3 7 1 0 11
NF1 2 0 4 2 3 0 11
RELN 0 0 2 5 4 0 11
RYR1 2 1 6 2 0 0 11
DNAH11 0 0 2 8 0 0 10
GLI3 1 0 0 7 2 0 10
KMT2A 0 1 2 6 1 0 10
MAGEL2 0 0 1 5 4 0 10
MT-ND2 0 0 3 5 2 0 10
SLX4 0 0 1 8 1 0 10
ACADVL 4 1 3 0 1 0 9
AHI1 0 0 4 4 1 0 9
ALPL 6 1 0 1 1 0 9
ATM 1 0 0 3 5 0 9
CACNA1A 1 0 2 5 1 0 9
CC2D1A 0 0 3 6 0 0 9
CREBBP 1 1 0 2 5 0 9
DCHS1 0 0 4 4 1 0 9
DMD 0 0 0 4 5 0 9
FBN1 4 0 0 0 5 0 9
GALT 8 0 0 0 1 0 9
KIF1A 0 0 6 2 1 0 9
MT-CO3 0 0 3 4 2 0 9
SMARCA4 0 0 2 6 1 0 9
ANK3 0 0 2 6 0 0 8
ARID1A 1 0 1 5 1 0 8
BRAT1 1 0 3 4 0 0 8
CHD7 1 0 2 4 1 0 8
CPLANE1 0 1 5 1 1 0 8
DOCK7 0 1 4 1 2 0 8
DOCK8 0 1 2 3 2 0 8
FASTKD2 0 0 3 3 2 0 8
FRAS1 2 0 1 4 1 0 8
GLDC 0 0 3 5 0 0 8
GRIN2A 0 2 2 3 1 0 8
LAMA1 0 0 7 1 0 0 8
MKS1 0 1 5 2 0 0 8
PAH 6 0 1 1 0 0 8
PTPN11 6 0 0 2 0 0 8
RPGR 0 0 0 6 2 0 8
RPGRIP1L 0 1 4 2 1 0 8
ZNF469 0 0 1 4 3 0 8
ACADM 7 0 0 0 0 0 7
AGRN 0 0 2 5 0 0 7
AHDC1 0 0 1 5 1 0 7
ALDH5A1 2 0 3 1 1 0 7
BBS9 1 0 2 3 1 0 7
CLCN2 0 0 1 6 0 0 7
COG1 0 0 1 6 0 0 7
COL1A1 0 0 1 3 3 0 7
COL4A5 3 2 0 1 1 0 7
DNAH5 0 0 1 6 0 0 7
DSP 0 0 0 5 2 0 7
ERCC6 2 0 2 3 0 0 7
FANCI 0 0 0 7 0 0 7
HCFC1 1 0 1 3 2 0 7
KANK1 0 0 1 6 0 0 7
KAT6A 0 0 3 4 0 0 7
KAT6B 0 0 1 3 3 0 7
MED12 0 0 1 5 1 0 7
MT-ND4 1 0 1 5 0 0 7
NEB 1 0 4 1 1 0 7
PLEC 0 0 0 6 1 0 7
RAI1 0 0 1 4 2 0 7
RERE 0 1 1 3 2 0 7
SACS 0 0 3 3 1 0 7
SPG11 0 0 1 5 1 0 7
SZT2 0 0 2 5 0 0 7
TCOF1 0 0 0 5 2 0 7
ZNF335 0 1 3 3 0 0 7
ALG3 0 0 6 0 0 0 6
APOB 0 0 1 2 3 0 6
ARHGAP31 0 0 2 4 0 0 6
ASNS, CZ1P-ASNS 1 2 1 2 0 0 6
ASXL1 0 0 1 3 2 0 6
ATP7B 1 1 2 2 0 0 6
ATR 0 0 1 2 3 0 6
AUTS2 0 0 1 4 1 0 6
BTD 3 1 0 1 1 0 6
CC2D2A 0 1 3 2 0 0 6
COL18A1, SLC19A1 0 0 1 5 0 0 6
COL4A1 0 0 1 3 2 0 6
COL6A2 0 1 1 4 0 0 6
CUL7 0 0 2 1 3 0 6
DOCK6 0 0 3 3 0 0 6
EFHC1 0 0 0 6 0 0 6
EPG5 0 0 4 1 1 0 6
FANCA 0 0 2 4 0 0 6
FANCD2, LOC107303338 0 0 0 3 3 0 6
FMN2 0 0 2 3 1 0 6
GJC2 0 1 3 2 0 0 6
GLI2 0 0 0 4 2 0 6
IFIH1 1 0 3 2 0 0 6
KANSL1 0 1 0 4 1 0 6
KCNQ2 2 1 2 1 0 0 6
KIF7 0 0 3 3 0 0 6
MAN1B1 0 0 2 4 0 0 6
MT-CO2 0 0 1 4 1 0 6
MYH14 0 0 3 3 0 0 6
MYO7A 0 0 1 3 2 0 6
NIPBL 0 0 2 4 0 0 6
NOTCH2 0 0 1 4 1 0 6
OTOG 0 0 4 1 1 0 6
PCNT 0 0 0 6 0 0 6
PDHA1 0 1 1 1 3 0 6
PEX6 0 1 1 3 1 0 6
PIGG 0 0 0 3 3 0 6
PMM2 4 1 1 0 0 0 6
PNKP 0 1 2 3 0 0 6
POLR3A 3 0 0 3 0 0 6
RANBP2 0 0 2 3 1 0 6
SMPD1 0 0 2 2 2 0 6
SOS1 1 0 1 3 1 0 6
SOS2 1 0 2 2 1 0 6
SRCAP 0 0 1 4 1 0 6
TCIRG1 0 0 1 1 4 0 6
TNXB 0 0 2 4 0 0 6
TRAPPC9 0 1 3 1 1 0 6
TRIO 0 0 1 4 1 0 6
USP9X 1 0 1 3 1 0 6
WDR62 0 0 0 5 1 0 6
WDR81 0 0 3 3 0 0 6
WWOX 0 0 2 4 0 0 6
ABCA12 0 0 1 1 3 0 5
AMACR, C1QTNF3-AMACR 0 0 2 1 2 0 5
AOPEP, FANCC 1 1 1 2 0 0 5
ASL 0 1 2 2 0 0 5
ATP8A2 0 0 1 4 0 0 5
ATRX 0 0 3 0 2 0 5
CBL 1 0 0 3 1 0 5
COL11A2 0 0 2 3 0 0 5
COL18A1 0 0 0 5 0 0 5
COL3A1 1 0 1 3 0 0 5
COL6A1 1 0 1 2 1 0 5
CPS1 0 0 2 3 0 0 5
CPT2 2 0 2 0 1 0 5
CYP2D6 0 0 0 0 0 5 5
DHCR7 3 0 1 1 0 0 5
EHMT1 0 0 0 4 1 0 5
ETFDH 5 0 0 0 0 0 5
FANCC 2 0 0 3 0 0 5
FAT4 0 0 1 4 0 0 5
FBN2 0 0 0 5 0 0 5
FGD1 0 0 1 4 0 0 5
FREM2 0 0 1 1 3 0 5
G6PD 5 0 0 0 0 0 5
GALC 2 0 1 2 0 0 5
GBE1 1 0 2 0 2 0 5
GCDH 3 0 2 0 0 0 5
GH-LCR, SCN4A 1 1 1 1 1 0 5
GLA, RPL36A-HNRNPH2 2 0 1 1 1 0 5
HERC1 0 0 1 4 0 0 5
HSPG2 0 0 1 3 1 0 5
HUWE1 0 1 0 1 3 0 5
IGHMBP2 2 0 3 0 0 0 5
ITGA7 0 0 0 4 1 0 5
L1CAM 1 0 0 1 3 0 5
LRPPRC 0 0 3 0 2 0 5
MED13L 0 1 0 4 0 0 5
MEFV 1 0 1 3 0 0 5
MILR1, POLG2 0 0 4 0 1 0 5
MT-RNR1 0 0 0 4 1 0 5
MYH7 0 1 3 1 0 0 5
NPHP3, NPHP3-ACAD11 0 0 2 1 2 0 5
OBSL1 0 0 1 2 2 0 5
OPHN1 0 0 1 3 1 0 5
PCDH19 0 1 1 3 0 0 5
POLG, POLGARF 0 0 2 3 0 0 5
POMT1 1 1 1 2 0 0 5
PTCH1 1 0 0 4 0 0 5
RECQL4 0 1 0 2 2 0 5
RET 1 0 0 1 3 0 5
RYR2 0 0 3 1 1 0 5
SCN2A 1 0 3 1 0 0 5
SH3PXD2B 1 0 0 3 1 0 5
SKIC3 0 0 1 3 1 0 5
STIL 0 0 1 4 0 0 5
SYNE1 0 1 0 4 0 0 5
TBX5 1 0 0 3 1 0 5
TMEM67 1 0 1 3 0 0 5
TREM2 0 0 0 4 1 0 5
TUBGCP6 0 0 3 2 0 0 5
WFS1 0 1 0 3 1 0 5
AARS1 0 0 2 2 0 0 4
AARS2 1 0 1 2 0 0 4
ACSF3 1 1 2 0 0 0 4
ADSL 1 1 1 0 1 0 4
ALDH7A1 2 0 0 2 0 0 4
ALG1 1 0 2 1 0 0 4
ALG12 0 0 2 1 1 0 4
ALG9 0 0 2 2 0 0 4
AMPD1 0 0 2 2 0 0 4
APC 0 0 1 3 0 0 4
APTX 1 0 0 2 1 0 4
ARID1B, LOC115308161 0 0 0 4 0 0 4
ARSA 1 0 0 0 3 0 4
ARSL 0 0 0 1 3 0 4
ASXL3 0 0 0 3 1 0 4
ATP6V0A2 0 0 1 1 2 0 4
BBS12 1 0 0 2 1 0 4
BCKDHA 2 1 0 0 1 0 4
CBS 0 0 3 0 1 0 4
CCDC88C 0 0 3 1 0 0 4
CEP152 0 0 2 2 0 0 4
CEP41 0 0 3 1 0 0 4
CFTR, LOC111674475 4 0 0 0 0 0 4
CHD2 0 0 3 1 0 0 4
CLN3 0 0 3 1 0 0 4
CNTNAP2 0 0 3 1 0 0 4
COG7 0 0 3 0 1 0 4
COL11A1 0 0 1 1 2 0 4
COQ9 0 0 3 0 1 0 4
COX10 0 0 2 1 1 0 4
DYNC2H1 2 0 1 1 0 0 4
EARS2 0 1 1 2 0 0 4
EIF2AK3 0 1 1 1 1 0 4
EOGT 0 0 0 4 0 0 4
ERCC4 0 1 1 2 0 0 4
EVC2 0 0 0 4 0 0 4
FGFR1 1 0 2 0 1 0 4
FGFR2 1 0 0 2 1 0 4
FOXP1 0 0 0 4 0 0 4
GJB2 2 1 0 0 1 0 4
GNAS 1 0 1 1 1 0 4
GNPTAB 1 0 0 3 0 0 4
HBB, LOC106099062, LOC107133510 4 0 0 0 0 0 4
IDUA, SLC26A1 0 0 0 1 3 0 4
KCNJ1 0 0 2 0 2 0 4
KCNMA1 0 0 0 4 0 0 4
KCNQ1 1 0 1 2 0 0 4
KIAA0586 1 1 0 1 1 0 4
KIAA0753 0 0 1 3 0 0 4
KPTN 2 0 1 1 0 0 4
LAMA2, LOC123864065 0 0 4 0 0 0 4
LMNA 1 0 2 0 1 0 4
LOXHD1 0 0 2 0 2 0 4
LYST 0 0 0 2 2 0 4
MAN2B1 0 0 1 1 2 0 4
MEGF8 0 0 0 4 0 0 4
MMAB 1 0 1 2 0 0 4
MMACHC 2 0 1 0 1 0 4
MPDZ 0 0 2 2 0 0 4
MT-ATP6, MT-ATP8 0 0 3 1 0 0 4
MT-ND3 1 0 0 3 0 0 4
MT-RNR2 0 0 3 1 0 0 4
MVP-DT, PRRT2 1 0 0 2 1 0 4
MYO19, PIGW 0 3 0 1 0 0 4
NBAS 2 0 1 1 0 0 4
NSD1 0 1 1 2 0 0 4
NUBPL 0 0 1 3 0 0 4
OTOF 0 0 2 2 0 0 4
PC 0 0 4 0 0 0 4
PCDH15 0 0 0 3 1 0 4
PIEZO2 0 0 1 2 1 0 4
PLEKHG2 0 0 2 1 1 0 4
PMS2 1 0 0 1 2 0 4
PPT1 2 0 1 1 0 0 4
PRKN 1 0 1 1 1 0 4
RTTN 0 0 0 4 0 0 4
SALL1 0 0 0 2 2 0 4
SCN5A 1 0 0 2 1 0 4
SCN8A 0 1 2 0 1 0 4
SETD5 0 0 1 3 0 0 4
SHROOM4 0 0 0 2 2 0 4
SIL1 0 0 0 4 0 0 4
SLC22A5 2 1 1 0 0 0 4
SLC26A4 0 0 0 2 2 0 4
SLC6A8 0 0 1 1 2 0 4
SYNE2 0 0 2 2 0 0 4
TBC1D24 0 0 1 3 0 0 4
TBCE 1 0 1 2 0 0 4
TCTN1 0 0 1 2 1 0 4
TMEM231 0 0 3 1 0 0 4
TRPV4 0 0 1 1 2 0 4
TSC1 0 0 1 1 2 0 4
TSEN54 1 0 2 1 0 0 4
UNC80 0 0 0 3 1 0 4
UPB1 1 0 3 0 0 0 4
VARS2 0 0 2 2 0 0 4
WAS 0 0 0 2 2 0 4
WDPCP 0 0 1 3 0 0 4
A2ML1 0 0 0 2 1 0 3
ABAT 0 0 0 3 0 0 3
ABCB11 0 0 1 2 0 0 3
ACAN 0 0 0 2 1 0 3
ACE 1 1 1 0 0 0 3
ACOX1 0 1 1 1 0 0 3
ACSL4 0 0 0 3 0 0 3
ACTG1 0 0 3 0 0 0 3
ADAR 0 0 1 2 0 0 3
ADD3 0 0 2 1 0 0 3
AFF2 0 0 1 1 1 0 3
AFG2A 0 1 1 0 1 0 3
AGL 0 0 1 2 0 0 3
AGXT 1 1 0 0 1 0 3
AHCY 1 1 1 0 0 0 3
ANK2 0 0 0 3 0 0 3
ANKRD11, LOC100287036, LOC128462377 0 0 0 2 1 0 3
AP4E1 0 0 1 2 0 0 3
AR 1 1 0 1 0 0 3
ARFGEF2 0 1 1 1 0 0 3
ASS1 1 0 0 2 0 0 3
ATIC 0 0 0 3 0 0 3
ATM, C11orf65 0 0 2 1 0 0 3
BBS10 0 0 0 3 0 0 3
BBS2 0 1 1 0 1 0 3
BBS4 0 1 1 0 1 0 3
BLM 0 0 1 1 1 0 3
CACNA1S 0 0 0 3 0 0 3
CAMTA1 0 0 0 2 1 0 3
CASK 0 1 1 1 0 0 3
CENPF 0 2 1 0 0 0 3
CHRND 0 0 0 1 2 0 3
COG6 0 0 1 2 0 0 3
COG8 0 0 1 1 1 0 3
COL2A1 2 0 0 1 0 0 3
COL4A2 0 0 0 1 2 0 3
COL9A2 0 0 3 0 0 0 3
CP 0 0 3 0 0 0 3
CSPP1 0 0 3 0 0 0 3
DCLRE1C 1 0 1 1 0 0 3
DDC 0 0 1 1 1 0 3
DDX11 0 0 2 1 0 0 3
DIAPH1 0 0 1 2 0 0 3
DIP2B 0 0 1 2 0 0 3
DNM1 0 0 0 3 0 0 3
DNM2 0 0 1 2 0 0 3
DPP6 0 0 1 1 1 0 3
DUOX2 1 0 0 0 2 0 3
DVL1 0 0 1 2 0 0 3
DYSF 1 0 0 1 1 0 3
EFNB1 2 0 0 0 1 0 3
EP300 0 0 0 2 1 0 3
EVI2B, NF1 0 0 0 1 2 0 3
EXT2 0 0 1 1 1 0 3
FAM20C 0 0 1 1 1 0 3
FBXL4 0 3 0 0 0 0 3
FGFR3 0 0 0 3 0 0 3
FLNB 0 0 1 2 0 0 3
FOXG1 0 0 3 0 0 0 3
GABRB3 0 0 1 2 0 0 3
GAMT 0 0 3 0 0 0 3
GATA4 1 0 0 0 2 0 3
GATAD2B 1 0 0 2 0 0 3
GCK 1 0 0 1 1 0 3
GFAP 0 0 1 2 0 0 3
GPSM2 2 1 0 0 0 0 3
GRM1 0 0 2 1 0 0 3
GUCY2C 0 0 2 1 0 0 3
HBA-LCR, NPRL3 0 0 0 3 0 0 3
HDAC4 0 0 0 3 0 0 3
HDAC6 0 0 0 3 0 0 3
HEXA 1 0 1 0 1 0 3
HEXB 0 0 0 1 2 0 3
HLCS 1 0 0 2 0 0 3
HYI, SZT2 0 0 0 3 0 0 3
ITPR1 0 0 0 3 0 0 3
KDM6A 0 0 0 1 2 0 3
KNL1 0 1 1 1 0 0 3
KRTAP10-10, TSPEAR 0 0 0 1 2 0 3
LIFR 0 0 0 2 1 0 3
LOC102724058, SCN1A 0 0 1 2 0 0 3
LOC126859653, SKIC2 1 0 1 1 0 0 3
MFN2 2 0 0 0 1 0 3
MMUT 0 0 3 0 0 0 3
MOGS 0 0 0 2 1 0 3
MT-ATP8 0 0 1 2 0 0 3
MT-ND6 0 0 0 2 1 0 3
MTO1 0 2 0 1 0 0 3
MYH3 0 0 0 0 3 0 3
MYO18B 0 0 3 0 0 0 3
MYT1L 0 1 0 2 0 0 3
NDUFS1 1 0 2 0 0 0 3
NLRP3 0 0 0 2 1 0 3
NOTCH1 0 1 0 1 1 0 3
NPC1 0 0 2 1 0 0 3
NPHP4 0 0 0 3 0 0 3
OCRL 1 0 1 1 0 0 3
ORC1 0 0 1 1 1 0 3
PALB2 0 0 0 2 1 0 3
PCCA 0 1 0 1 1 0 3
PEX1 2 0 0 1 0 0 3
PEX10 0 1 1 1 0 0 3
PEX12 1 0 1 0 1 0 3
PEX5 0 0 2 0 1 0 3
PHF8 0 0 0 3 0 0 3
PIGA 1 0 0 1 1 0 3
PIK3R2 0 0 1 1 1 0 3
PLCB1 0 0 1 2 0 0 3
PLCG2 0 0 0 2 1 0 3
PNPLA6 0 1 0 2 0 0 3
POLE 0 0 0 2 1 0 3
PTEN 3 0 0 0 0 0 3
RAG1 1 1 0 0 1 0 3
RMND1 0 0 1 0 2 0 3
RNF135 0 0 2 1 0 0 3
RYR3 0 0 0 2 1 0 3
SCN10A 0 0 1 1 1 0 3
SCN1A 0 1 1 1 0 0 3
SDHA 0 0 1 2 0 0 3
SDHB 0 0 0 2 1 0 3
SERAC1 0 1 0 2 0 0 3
SERPINI1 0 0 0 2 1 0 3
SETBP1 0 0 0 3 0 0 3
SHANK3 0 1 1 1 0 0 3
SIK1 0 0 0 2 1 0 3
SKI 0 0 1 2 0 0 3
SLC12A5 0 0 2 1 0 0 3
SLC12A6 0 0 2 1 0 0 3
SLC35A1 0 0 1 1 1 0 3
SLC6A19 1 0 1 1 0 0 3
SOBP 0 0 0 2 1 0 3
SOX11 0 0 2 1 0 0 3
SPAST 0 1 0 1 1 0 3
SPECC1L, SPECC1L-ADORA2A 1 1 0 1 0 0 3
SPINK1 0 0 0 2 1 0 3
SPTAN1 0 0 1 2 0 0 3
SUCLA2 0 0 0 2 1 0 3
SURF1 0 0 1 0 2 0 3
SYN1 0 0 1 0 2 0 3
TBL1XR1 1 0 1 1 0 0 3
TCF12 1 1 0 0 1 0 3
TGM1 2 0 0 1 0 0 3
TMEM216 0 1 0 2 0 0 3
TNIK 0 0 1 2 0 0 3
TPP1 1 0 0 0 2 0 3
TSFM 0 0 1 2 0 0 3
TTC7A 0 0 2 1 0 0 3
UNC13D 1 0 1 0 1 0 3
USH2A 1 0 0 0 2 0 3
VWF 1 0 0 1 1 0 3
WASHC4 0 0 3 0 0 0 3
AASS 0 0 1 1 0 0 2
ABCA3 1 0 0 1 0 0 2
ABCB4 0 0 1 0 1 0 2
ABCB6 0 0 0 1 1 0 2
ABCC8 1 0 1 0 0 0 2
ABCD4 0 0 1 1 0 0 2
ABHD14A-ACY1, ACY1 0 0 1 1 0 0 2
ACAT1 1 0 1 0 0 0 2
ADAT3, SCAMP4 0 0 1 1 0 0 2
ADNP, DPM1 0 0 0 0 2 0 2
AIFM1, RAB33A 0 0 2 0 0 0 2
AIMP1 0 1 0 1 0 0 2
AIPL1 0 0 1 1 0 0 2
AIRE 0 0 0 2 0 0 2
ALDH3A2 0 0 1 1 0 0 2
ALG2 0 0 0 2 0 0 2
ALG6 1 0 0 1 0 0 2
AMER1 0 0 0 2 0 0 2
AMPD2, LOC126805822 0 0 2 0 0 0 2
AMT 0 0 0 2 0 0 2
ANO5 0 0 1 1 0 0 2
AP4B1 0 0 0 2 0 0 2
ARHGEF6 0 0 0 2 0 0 2
ARSB, LOC129994126 1 0 0 1 0 0 2
ARX 0 0 2 0 0 0 2
ASXL2 0 0 0 2 0 0 2
ATP1A2 0 0 0 2 0 0 2
ATP1A3 0 0 1 1 0 0 2
ATPAF2 0 0 1 1 0 0 2
ATRIP, ATRIP-TREX1, TREX1 0 0 2 0 0 0 2
AUH, LOC130002059 0 0 1 1 0 0 2
AVPR2 1 0 0 1 0 0 2
B3GLCT 1 0 0 1 0 0 2
B4GALNT1 0 0 0 1 1 0 2
BAG3 0 0 0 2 0 0 2
BBS1 0 0 1 0 1 0 2
BBS1, ZDHHC24 1 0 1 0 0 0 2
BMP1 0 1 0 1 0 0 2
BRIP1 0 1 0 1 0 0 2
BRWD3 0 1 0 1 0 0 2
BTK 0 0 0 1 1 0 2
CACNA1A, LOC108663985 0 0 0 1 1 0 2
CASK, GPR82 0 0 0 2 0 0 2
CBL, LOC130006895 0 0 1 1 0 0 2
CCBE1 1 0 0 0 1 0 2
CCDC22 0 0 0 2 0 0 2
CD320 0 0 0 2 0 0 2
CDH15 0 0 0 1 1 0 2
CDH23 0 0 0 2 0 0 2
CDKL5 1 0 1 0 0 0 2
CDT1 0 1 1 0 0 0 2
CENPE 0 0 0 2 0 0 2
CEP164 0 0 0 1 1 0 2
CERT1 0 0 1 1 0 0 2
CFTR, LOC111674472 1 0 0 1 0 0 2
CHAT 0 0 0 2 0 0 2
CHRNA4 0 0 1 1 0 0 2
CHRNB2 0 0 0 2 0 0 2
CHRNG, TIGD1 0 0 1 1 0 0 2
CHST3 0 1 1 0 0 0 2
CLASP1, RNU4ATAC 1 1 0 0 0 0 2
CLCN1 1 0 0 1 0 0 2
CLCN4 1 0 0 1 0 0 2
CLIC2 0 0 0 2 0 0 2
CLN5 0 0 0 2 0 0 2
CLN8 0 0 0 1 1 0 2
CLTCL1 0 0 1 0 1 0 2
COA8 0 0 0 1 1 0 2
COG5 0 0 0 2 0 0 2
COL5A2 0 0 0 2 0 0 2
COMP 0 1 0 1 0 0 2
COQ2 0 0 0 2 0 0 2
COQ2, LOC112997540 1 0 0 1 0 0 2
COQ7 0 0 1 1 0 0 2
COQ8A 0 0 1 1 0 0 2
CPT1A 0 0 2 0 0 0 2
CTC1 0 0 1 1 0 0 2
CTNS 0 1 0 0 1 0 2
CTSD 0 0 1 1 0 0 2
CYC1 0 0 1 1 0 0 2
CYP2U1 0 1 1 0 0 0 2
D2HGDH 0 0 0 2 0 0 2
DARS1 0 0 2 0 0 0 2
DBH 0 0 2 0 0 0 2
DBT 0 0 0 1 1 0 2
DCPS, GSEC 0 0 1 1 0 0 2
DDR2 0 0 1 1 0 0 2
DEPDC5 0 0 0 2 0 0 2
DKC1 1 0 0 0 1 0 2
DLG3 0 0 0 1 1 0 2
DNA2 0 0 0 2 0 0 2
DOLK 0 0 1 1 0 0 2
DPYD 1 0 0 1 0 0 2
DST 0 0 1 1 0 0 2
DYRK1A 0 0 0 2 0 0 2
ECM1 0 0 0 2 0 0 2
EDA 1 0 0 0 1 0 2
EIF2B5 1 0 1 0 0 0 2
ELANE 1 0 0 1 0 0 2
ELN 0 0 1 0 1 0 2
EMC1 0 1 0 1 0 0 2
EPM2A 0 0 1 1 0 0 2
ERCC2 1 0 1 0 0 0 2
ERMARD 0 0 2 0 0 0 2
ESPN 0 0 0 1 1 0 2
ETFB 0 0 0 1 1 0 2
EVC 0 0 1 1 0 0 2
EXOSC8 0 1 0 0 1 0 2
EZH2 0 0 1 1 0 0 2
FANCB 0 0 0 2 0 0 2
FANCL 0 0 0 2 0 0 2
FASN 0 0 1 1 0 0 2
FKBP10 1 0 0 1 0 0 2
FKRP 1 0 0 1 0 0 2
FKTN 2 0 0 0 0 0 2
FLNC 0 0 0 1 1 0 2
FOXP2 0 0 0 2 0 0 2
FSCN2 0 0 1 0 1 0 2
FTO 0 0 1 1 0 0 2
FTSJ1 0 0 0 2 0 0 2
FUCA1 0 0 0 2 0 0 2
GAA 1 0 0 0 1 0 2
GABRA1 0 0 1 1 0 0 2
GATA6 0 0 1 1 0 0 2
GDI1 0 0 1 1 0 0 2
GFM1 0 0 0 1 1 0 2
GJA1 0 1 0 1 0 0 2
GLRA1 0 1 0 0 1 0 2
GLYCTK 0 0 1 1 0 0 2
GNE 0 0 1 1 0 0 2
GPC3 0 0 0 2 0 0 2
GPR101 0 0 0 2 0 0 2
GRIA3 0 0 0 1 1 0 2
GRIN1 0 1 0 1 0 0 2
GRIN2D 0 0 0 2 0 0 2
GRN 0 0 0 1 1 0 2
HCN1 0 0 0 2 0 0 2
HECW2 0 1 1 0 0 0 2
HGSNAT 0 0 0 2 0 0 2
HIBCH 1 0 1 0 0 0 2
HIVEP2 0 0 0 2 0 0 2
HPS1 0 1 0 1 0 0 2
HSD17B3, SLC35D2-HSD17B3 1 1 0 0 0 0 2
HSD17B4 0 0 0 1 1 0 2
IARS1 0 1 0 1 0 0 2
IGF1R 0 0 0 2 0 0 2
INPP5E 0 0 2 0 0 0 2
JAG1 1 0 0 1 0 0 2
KCNQ3 0 0 0 0 2 0 2
KDM5C 0 1 1 0 0 0 2
KIF1B 0 0 0 2 0 0 2
KIF4A 0 0 1 0 1 0 2
KIF5A 0 0 1 1 0 0 2
KLKB1 0 0 0 2 0 0 2
KMT2A, TTC36 1 0 1 0 0 0 2
LAMB1 0 0 1 1 0 0 2
LARP7, MIR302CHG 0 2 0 0 0 0 2
LINS1 0 1 0 1 0 0 2
LOC100507346, PTCH1 0 0 1 1 0 0 2
LOC101928335, MID2 1 0 0 1 0 0 2
LOC108281134, SOX3 0 0 0 0 2 0 2
LOC126862264, MEFV 2 0 0 0 0 0 2
LOC130067862, SCO2, TYMP 0 0 0 1 1 0 2
LRBA 0 0 0 2 0 0 2
LTBP4 0 0 1 1 0 0 2
MAP3K1 0 0 1 1 0 0 2
MAP3K15, PDHA1 0 0 0 1 1 0 2
MBD5 0 0 0 2 0 0 2
MCCC1 2 0 0 0 0 0 2
MED23 0 1 0 1 0 0 2
METTL23 0 0 0 2 0 0 2
MGME1 0 0 1 1 0 0 2
MID1 0 0 0 1 1 0 2
MKKS 0 0 1 1 0 0 2
MMAA 0 1 1 0 0 0 2
MMADHC 0 0 0 2 0 0 2
MT-ND4L 0 0 0 1 1 0 2
MT-TH 0 0 2 0 0 0 2
MT-TQ 0 0 2 0 0 0 2
MTFMT 1 0 0 1 0 0 2
MTM1 1 1 0 0 0 0 2
MTRR 0 0 1 0 1 0 2
MUSK 0 0 0 2 0 0 2
MYCN 0 0 1 1 0 0 2
MYH9 0 0 1 1 0 0 2
MYO15A 0 0 0 2 0 0 2
MYO3A 0 0 1 1 0 0 2
MYO5A 0 0 1 1 0 0 2
NAGS 0 0 0 1 1 0 2
NARS2 0 0 2 0 0 0 2
NDUFA10 0 0 0 2 0 0 2
NDUFA2, TMCO6 0 0 1 1 0 0 2
NDUFS2 0 0 1 1 0 0 2
NDUFS8 0 0 2 0 0 0 2
NDUFV2 0 1 1 0 0 0 2
NEB, RIF1 0 0 1 1 0 0 2
NEXMIF 0 0 0 1 1 0 2
NF1, OMG 0 0 0 2 0 0 2
NHS 0 0 0 2 0 0 2
NIN 0 0 1 1 0 0 2
NKX2-5 0 0 1 1 0 0 2
NOG 0 0 0 2 0 0 2
NOTCH3 0 0 0 1 1 0 2
NRXN1 0 0 0 1 1 0 2
NSUN2 0 0 0 2 0 0 2
NTRK1 0 0 0 1 1 0 2
OFD1 0 0 0 1 1 0 2
PAX1 0 0 1 1 0 0 2
PCARE 0 0 1 1 0 0 2
PDE4D 0 0 0 2 0 0 2
PDGFRB 0 0 0 2 0 0 2
PDHX 0 0 0 1 1 0 2
PEX16 0 0 0 2 0 0 2
PEX19 0 0 0 2 0 0 2
PEX2 0 0 1 1 0 0 2
PEX26 0 0 0 2 0 0 2
PGAP3 0 1 0 1 0 0 2
PHC1 0 0 0 1 1 0 2
PHKA2 0 0 0 1 1 0 2
PHKB 0 0 0 2 0 0 2
PIEZO1 1 0 0 1 0 0 2
PIGL 1 0 0 1 0 0 2
PIGN 2 0 0 0 0 0 2
PIGT 0 0 1 1 0 0 2
PIGV 0 0 1 1 0 0 2
PKLR 1 0 1 0 0 0 2
PKP2 0 0 0 2 0 0 2
PLEKHG5 0 0 1 0 1 0 2
PLP1, RAB9B 0 1 0 1 0 0 2
PMP22 0 1 1 0 0 0 2
POGZ 0 0 0 2 0 0 2
POMGNT2 0 0 0 1 1 0 2
PRDM16 1 0 1 0 0 0 2
PRF1 0 0 1 0 1 0 2
PRKDC 0 0 0 1 1 0 2
PRSS12 0 0 0 2 0 0 2
RAB3GAP1 0 0 1 1 0 0 2
RAB3GAP2 0 0 1 0 1 0 2
RAD50 0 0 1 1 0 0 2
RAPSN 1 0 0 0 1 0 2
RBBP8 0 0 1 1 0 0 2
RBM10 0 0 0 2 0 0 2
RD3 0 0 1 1 0 0 2
RIPOR2 0 0 0 2 0 0 2
RNASEH2C 0 0 2 0 0 0 2
ROGDI 0 0 0 2 0 0 2
ROR2 0 0 0 1 1 0 2
RRM2B 0 0 1 1 0 0 2
RXYLT1 0 0 1 1 0 0 2
SCARB2 0 0 1 0 1 0 2
SCN9A 0 0 1 1 0 0 2
SEC24D 0 0 0 2 0 0 2
SETD2 0 0 1 1 0 0 2
SETX 0 0 0 2 0 0 2
SGSH 1 0 1 0 0 0 2
SI 0 0 0 2 0 0 2
SLC16A2 1 0 0 1 0 0 2
SLC17A5 0 0 2 0 0 0 2
SLC19A3 1 0 0 0 1 0 2
SLC2A1 1 0 0 0 1 0 2
SLC6A1 0 0 1 1 0 0 2
SLCO1B3, SLCO1B3-SLCO1B7 0 0 1 1 0 0 2
SMC3 0 0 0 2 0 0 2
SMO 0 0 0 2 0 0 2
SMPX 0 1 0 1 0 0 2
SNAP29 0 0 0 1 1 0 2
SNHG14, UBE3A 1 0 0 0 1 0 2
STS 0 0 0 2 0 0 2
STXBP2 0 0 0 1 1 0 2
SUCLG1 0 0 2 0 0 0 2
SYNGAP1 0 0 0 1 1 0 2
TBCK 1 1 0 0 0 0 2
TCF4 0 0 0 2 0 0 2
TCN2 1 1 0 0 0 0 2
TCTN2 0 0 1 1 0 0 2
TG 0 0 2 0 0 0 2
THOC2 0 0 0 2 0 0 2
TKT 0 0 1 1 0 0 2
TMEM70 1 0 0 1 0 0 2
TMPRSS6 0 0 0 1 1 0 2
TNC 0 0 0 2 0 0 2
TNFRSF13B 0 0 0 2 0 0 2
TREH 0 0 0 2 0 0 2
TRIOBP 0 1 0 1 0 0 2
TRIP11 0 0 1 1 0 0 2
TRMT5 1 0 0 1 0 0 2
TRPM4 0 0 2 0 0 0 2
TRPS1 1 1 0 0 0 0 2
TTC21B 0 0 0 1 1 0 2
TTI2 0 0 0 2 0 0 2
TUBA8 0 0 1 1 0 0 2
USH1G 0 0 1 0 1 0 2
VANGL1 0 0 0 2 0 0 2
VHL 0 0 0 2 0 0 2
VPS53 0 0 1 1 0 0 2
WAC 0 0 2 0 0 0 2
WHRN 0 0 1 1 0 0 2
YARS2 0 0 1 1 0 0 2
ZC4H2 0 1 0 1 0 0 2
ZFYVE26 0 1 0 1 0 0 2
ZNF81 0 0 0 2 0 0 2
AARS2, POLR1C 0 0 1 0 0 0 1
ABCA4 0 0 0 0 1 0 1
ABCD1 0 0 0 1 0 0 1
ABHD5 0 0 0 1 0 0 1
ACAD9 0 0 0 1 0 0 1
ACADSB 0 0 1 0 0 0 1
ACADVL, DLG4 0 0 0 0 1 0 1
ACO2 0 0 1 0 0 0 1
ACP5 0 0 0 1 0 0 1
ACTB 0 0 0 1 0 0 1
ACTN2 0 0 0 0 1 0 1
ACVRL1 0 0 1 0 0 0 1
ACYP1, NPC2 0 0 1 0 0 0 1
ADAMTS10 0 0 0 1 0 0 1
ADAMTS13 0 0 0 0 1 0 1
ADAMTS18 0 0 0 1 0 0 1
ADAMTS2 0 0 0 1 0 0 1
ADAMTSL2 0 0 0 1 0 0 1
ADGRG6 0 0 0 1 0 0 1
ADK 0 0 0 1 0 0 1
ADRA2B 0 0 1 0 0 0 1
AGA 0 0 0 1 0 0 1
AK1, ST6GALNAC4-ST6GALNAC6-AK1 0 0 0 1 0 0 1
AK2 0 0 0 1 0 0 1
AKAP9 0 0 0 1 0 0 1
ALDH18A1 0 0 1 0 0 0 1
ALDH1A3 0 0 0 1 0 0 1
ALDH5A1, GPLD1, LOC129995978 0 0 0 0 1 0 1
ALDH6A1, BBOF1 0 1 0 0 0 0 1
ALDOB 1 0 0 0 0 0 1
ALG1, LOC130058384 0 0 0 1 0 0 1
ALG11 0 0 0 1 0 0 1
ALG11, UTP14C 0 0 0 1 0 0 1
ALG14, LOC129930989 0 0 0 1 0 0 1
ALG9, LOC130006752 0 0 1 0 0 0 1
ALX4 0 0 1 0 0 0 1
AMPD3 0 0 0 1 0 0 1
ANGPT2, MCPH1 0 0 0 1 0 0 1
ANGPTL3, DOCK7 0 0 0 1 0 0 1
ANK1 0 0 0 1 0 0 1
ANK2, LOC126807136 0 0 1 0 0 0 1
ANKLE2 0 0 1 0 0 0 1
ANO3, MUC15 0 0 0 1 0 0 1
ANTXR1 0 0 0 1 0 0 1
AP1S2 0 0 0 1 0 0 1
AP3B1 0 0 0 1 0 0 1
AP4M1 0 0 1 0 0 0 1
AP4S1 0 0 0 1 0 0 1
AP5Z1 0 0 0 1 0 0 1
APC2 0 0 0 1 0 0 1
APOL4 0 0 0 1 0 0 1
AR, LOC109504725 0 0 0 1 0 0 1
ARFGEF1, CSPP1 0 0 1 0 0 0 1
ARFGEF1-DT, CPA6 0 0 0 1 0 0 1
ARHGEF10 0 0 1 0 0 0 1
ARHGEF6, LOC130068760 0 0 0 1 0 0 1
ARHGEF9 0 0 1 0 0 0 1
ARID1B, LOC115308161, LOC129997524 0 0 1 0 0 0 1
ARID1B, LOC129997525 0 0 1 0 0 0 1
ARL13B 0 0 0 1 0 0 1
ARNT2 0 0 1 0 0 0 1
ARV1, LOC129932761 0 0 0 1 0 0 1
ARVCF 0 0 0 1 0 0 1
ASAH1 0 0 0 0 1 0 1
ASIC4, GMPPA 0 0 0 1 0 0 1
ASPA, SPATA22 0 0 0 1 0 0 1
ASPM, LOC129932155 0 0 0 1 0 0 1
ATG5 0 0 1 0 0 0 1
ATP2C1 0 0 0 0 1 0 1
ATP5F1A 0 0 0 1 0 0 1
ATP5F1A, LOC126862738 0 0 0 1 0 0 1
ATP7A 1 0 0 0 0 0 1
ATP7A, PGAM4 0 0 0 0 1 0 1
ATP8B1 0 0 0 1 0 0 1
ATXN10 0 0 1 0 0 0 1
AVEN, LOC126862094, RYR3 0 0 1 0 0 0 1
AXIN1 0 0 0 1 0 0 1
B4GALT1 0 0 1 0 0 0 1
B4GAT1 0 0 1 0 0 0 1
B9D1 0 0 0 1 0 0 1
BBS5 0 0 0 1 0 0 1
BBS7 1 0 0 0 0 0 1
BCAP31 0 0 0 0 1 0 1
BCHE 0 0 1 0 0 0 1
BCO1 0 0 1 0 0 0 1
BCOR 0 0 0 1 0 0 1
BCS1L 1 0 0 0 0 0 1
BICD2 0 0 0 1 0 0 1
BIN1 0 0 1 0 0 0 1
BIRC6 0 0 1 0 0 0 1
BIVM-ERCC5, ERCC5 0 0 0 1 0 0 1
BLNK 0 0 0 1 0 0 1
BLOC1S3 0 0 0 1 0 0 1
BLTP2, SPAG5 0 0 1 0 0 0 1
BMP4 0 0 0 1 0 0 1
BMPER 0 0 1 0 0 0 1
BMPR2 0 0 1 0 0 0 1
BPTF 0 1 0 0 0 0 1
BRAF 0 0 0 1 0 0 1
BRCA1 0 0 1 0 0 0 1
BRCA1, LOC126862571 0 0 0 1 0 0 1
BRPF1 0 1 0 0 0 0 1
BSCL2, HNRNPUL2-BSCL2 0 0 0 1 0 0 1
BVES 0 1 0 0 0 0 1
C14orf39, SIX6 0 0 1 0 0 0 1
C2, CFB 0 0 0 0 1 0 1
C2CD3 0 0 0 1 0 0 1
C6 0 0 0 1 0 0 1
C9 0 0 0 1 0 0 1
CA4 0 0 1 0 0 0 1
CACNA1B 0 0 1 0 0 0 1
CACNA1C 0 0 0 0 1 0 1
CACNA1D 0 0 0 1 0 0 1
CACNA1F 0 0 0 1 0 0 1
CACNG2 0 0 0 1 0 0 1
CACNG2-DT, IFT27 0 0 0 0 1 0 1
CAD, LOC126806172 0 0 0 1 0 0 1
CALR3 0 0 0 0 1 0 1
CANT1 0 0 0 1 0 0 1
CAPN3 0 0 0 1 0 0 1
CARD14, SGSH 1 0 0 0 0 0 1
CARS2 0 0 0 1 0 0 1
CASD1, SGCE 0 0 0 0 1 0 1
CASK, GPR34 0 0 0 1 0 0 1
CASP10 0 0 0 1 0 0 1
CASQ2 0 0 0 0 1 0 1
CASR 0 0 0 1 0 0 1
CATIP, PNKD 0 0 1 0 0 0 1
CAV3, OXTR 0 0 0 0 1 0 1
CCDC174 0 0 0 1 0 0 1
CCDC39 0 0 0 1 0 0 1
CCDC40 0 0 1 0 0 0 1
CCDC78 0 0 0 1 0 0 1
CCDC8 0 0 0 1 0 0 1
CCDST, FLG 0 0 0 1 0 0 1
CCM2 1 0 0 0 0 0 1
CCM2, LOC132090779 0 0 0 1 0 0 1
CCND2 0 0 0 1 0 0 1
CCNO 0 0 0 1 0 0 1
CCNQ 0 0 0 1 0 0 1
CD19 0 0 1 0 0 0 1
CD3G, LOC126861358 0 0 1 0 0 0 1
CDAN1 0 0 0 0 1 0 1
CDC73 0 0 0 1 0 0 1
CDH1 0 0 0 1 0 0 1
CDK13 0 0 0 1 0 0 1
CDK5RAP2 0 0 1 0 0 0 1
CDKL5, RS1 0 0 0 0 1 0 1
CDKN1B 0 0 0 1 0 0 1
CDKN1C 0 0 0 1 0 0 1
CDON 0 0 0 1 0 0 1
CENPJ 0 0 1 0 0 0 1
CEP63 0 0 1 0 0 0 1
CEP85L, LOC129997071 1 0 0 0 0 0 1
CERT1, POLK 0 0 0 1 0 0 1
CFC1 0 0 0 0 1 0 1
CFHR5 0 0 0 0 1 0 1
CFP 0 0 0 0 1 0 1
CHAMP1 0 0 0 1 0 0 1
CHD2, LOC126862230 0 0 1 0 0 0 1
CHD7, LOC126860403 0 0 0 0 1 0 1
CHKB, CHKB-CPT1B 0 0 0 1 0 0 1
CHMP2B 0 0 0 0 1 0 1
CHRNA2 0 0 0 1 0 0 1
CHRNA4, LOC126863087 0 0 1 0 0 0 1
CHRNB1 0 0 0 1 0 0 1
CHRNE, LOC130060041 1 0 0 0 0 0 1
CHRNG 0 0 0 1 0 0 1
CILK1 0 0 0 1 0 0 1
CISD2, SLC9B1 0 0 1 0 0 0 1
CIT 0 1 0 0 0 0 1
CLCC1, GPSM2 0 0 0 1 0 0 1
CLCN7 0 0 0 1 0 0 1
CLCNKB, LOC106501713 1 0 0 0 0 0 1
CLEC7A 0 0 0 0 1 0 1
CLN6 0 0 1 0 0 0 1
CLPB 0 0 0 1 0 0 1
CNGA3 0 0 0 1 0 0 1
CNGB1 0 0 0 1 0 0 1
CNTN2 0 0 1 0 0 0 1
CNTN5 0 0 0 1 0 0 1
COG1, LOC126862634 0 0 0 0 1 0 1
COG1, LOC130061576 0 0 1 0 0 0 1
COG1, VCF1 0 0 1 0 0 0 1
COG4 0 0 0 1 0 0 1
COL10A1, NT5DC1 0 0 0 1 0 0 1
COL12A1 0 0 0 1 0 0 1
COL1A2 0 0 0 1 0 0 1
COL4A3, MFF-DT 0 1 0 0 0 0 1
COL4A6 0 0 1 0 0 0 1
COL6A2, FTCD 0 0 0 0 1 0 1
COL6A3, LOC126806573 0 0 1 0 0 0 1
COL7A1 0 0 0 1 0 0 1
COL9A1 0 0 1 0 0 0 1
COL9A3 0 0 0 1 0 0 1
COLEC11 0 0 0 1 0 0 1
COQ6 0 0 0 1 0 0 1
COQ6, ENTPD5 0 0 1 0 0 0 1
COX15 0 0 0 1 0 0 1
COX20 0 0 1 0 0 0 1
CPAP 0 0 0 1 0 0 1
CR1 0 0 0 1 0 0 1
CRB1 1 0 0 0 0 0 1
CRBN 0 0 1 0 0 0 1
CRTAP 0 0 0 0 1 0 1
CRX 0 0 0 0 1 0 1
CRYM, LOC130058620 0 0 1 0 0 0 1
CSRP3 0 0 0 1 0 0 1
CSTB 0 0 1 0 0 0 1
CTCF 0 0 0 1 0 0 1
CTDP1 0 0 1 0 0 0 1
CTNNA3 0 0 0 1 0 0 1
CTSF 0 0 0 1 0 0 1
CUL3 0 1 0 0 0 0 1
CYBB 0 0 0 1 0 0 1
CYP11A1 0 0 1 0 0 0 1
CYP11B1, LOC106799833 1 0 0 0 0 0 1
CYP11B2, LOC106799834 1 0 0 0 0 0 1
CYP21A2, LOC106780800, TNXB 0 0 0 0 1 0 1
CYP26B1 0 0 0 1 0 0 1
D2HGDH, LOC129936031 0 0 0 1 0 0 1
D2HGDH, LOC129936032 0 0 1 0 0 0 1
DAG1 0 0 0 1 0 0 1
DARS2 0 0 0 1 0 0 1
DCAF17 0 0 0 1 0 0 1
DCTN1 0 0 1 0 0 0 1
DDOST 0 0 1 0 0 0 1
DDX23 0 0 1 0 0 0 1
DDX3X 0 1 0 0 0 0 1
DEAF1 0 0 1 0 0 0 1
DGUOK, LOC129934096 0 0 1 0 0 0 1
DHCR7, NADSYN1 0 0 0 1 0 0 1
DHTKD1 0 0 0 1 0 0 1
DICER1 0 0 0 1 0 0 1
DIPK1A, RPL5 0 0 0 1 0 0 1
DIS3L2 0 0 1 0 0 0 1
DKC1, LOC130068886 0 0 0 1 0 0 1
DLD 1 0 0 0 0 0 1
DMPK 0 0 0 1 0 0 1
DMXL2 0 0 0 1 0 0 1
DNAAF1 0 0 1 0 0 0 1
DNAAF11 0 0 0 1 0 0 1
DNAAF2 0 0 0 1 0 0 1
DNAAF5 0 0 0 1 0 0 1
DNAI2 0 0 1 0 0 0 1
DNAJC19 0 1 0 0 0 0 1
DNAJC6 0 0 0 1 0 0 1
DNASE1L3 0 0 0 1 0 0 1
DNM1, LOC113839516 0 0 1 0 0 0 1
DNMT1 0 0 1 0 0 0 1
DNMT3A 0 0 0 1 0 0 1
DOK7 0 0 0 0 1 0 1
DPAGT1, LOC126861360 0 0 1 0 0 0 1
DPH1 0 0 0 1 0 0 1
DPYS 1 0 0 0 0 0 1
DRD4 0 0 0 0 1 0 1
DSC2 0 0 0 1 0 0 1
DSG1, DSG4 0 0 0 1 0 0 1
DSG2 0 0 0 1 0 0 1
DSPP 0 0 1 0 0 0 1
DTNA 0 0 1 0 0 0 1
DYM 0 0 0 1 0 0 1
DYNC1H1 0 0 0 1 0 0 1
EBF3 0 0 0 1 0 0 1
ECE1 0 0 0 1 0 0 1
ECEL1 0 0 0 1 0 0 1
ECHS1 0 1 0 0 0 0 1
ECHS1, LOC130005023 0 0 1 0 0 0 1
EDN1 0 0 1 0 0 0 1
EDNRB 0 0 1 0 0 0 1
EEF2 0 0 1 0 0 0 1
EFTUD2 0 0 0 1 0 0 1
EGF 0 0 0 1 0 0 1
EIF2AK2 0 1 0 0 0 0 1
EIF2B2 0 0 1 0 0 0 1
EIF2B3 0 0 0 1 0 0 1
EIF2B4 0 0 1 0 0 0 1
ELAC2 0 0 1 0 0 0 1
ELOVL4 0 0 0 1 0 0 1
ELP1 0 0 0 1 0 0 1
EMG1 0 0 0 1 0 0 1
ENPP1 0 1 0 0 0 0 1
EPB41L1 0 0 0 1 0 0 1
EPM2A, EPM2A-DT, LOC129997381 0 0 1 0 0 0 1
ERCC1 0 0 0 0 1 0 1
ERCC1, POLR1G 1 0 0 0 0 0 1
ERCC4, LOC130058543 0 0 1 0 0 0 1
ERCC6, LOC126860933 0 0 0 1 0 0 1
ERCC6, PGBD3 0 0 0 1 0 0 1
ERCC6L2 0 0 0 1 0 0 1
ERF 0 1 0 0 0 0 1
ESCO2 0 0 0 0 1 0 1
ETFA 0 0 1 0 0 0 1
ETHE1 0 0 0 1 0 0 1
EVC2, LOC126806961 0 0 0 0 1 0 1
EVI2A, LOC130060655, NF1 0 0 0 1 0 0 1
EVI2A, NF1 0 0 0 1 0 0 1
EXOSC3 1 0 0 0 0 0 1
EXTL3 0 0 0 1 0 0 1
EYA1 0 0 0 1 0 0 1
FA2H 0 0 0 1 0 0 1
FAM111A 0 0 0 1 0 0 1
FANCD2, FANCD2OS 0 0 0 1 0 0 1
FANCF 0 0 1 0 0 0 1
FANCG 1 0 0 0 0 0 1
FANCG, VCP 0 0 0 0 1 0 1
FARS2 0 0 1 0 0 0 1
FASTKD2, LOC129935479 0 0 0 1 0 0 1
FBP1 0 0 0 1 0 0 1
FBXO31 0 0 0 1 0 0 1
FGA 0 0 1 0 0 0 1
FGD4 0 0 1 0 0 0 1
FLRT3, MACROD2 0 0 0 1 0 0 1
FLT4 0 0 0 1 0 0 1
FMN2, LOC126806069 0 0 1 0 0 0 1
FOLR1 0 0 1 0 0 0 1
FOXI1 0 0 0 1 0 0 1
FOXP3 0 0 0 1 0 0 1
FOXRED1 0 0 1 0 0 0 1
FRAS1, LOC126807089 1 0 0 0 0 0 1
FREM1 0 0 0 1 0 0 1
FRMPD4 0 0 1 0 0 0 1
FTCD 0 0 1 0 0 0 1
FUT6 0 0 0 0 1 0 1
FUZ 0 0 0 0 1 0 1
G6PC1 1 0 0 0 0 0 1
GABRB1 0 0 0 1 0 0 1
GABRD 0 0 1 0 0 0 1
GAD1 0 0 1 0 0 0 1
GALC, LOC130056217 1 0 0 0 0 0 1
GAMT, LOC130062945 0 0 1 0 0 0 1
GAN 0 0 0 1 0 0 1
GARS1 0 0 0 1 0 0 1
GATM 0 0 1 0 0 0 1
GBA1 0 0 0 0 1 0 1
GBA1, LOC106627981 0 0 0 1 0 0 1
GBA2 0 0 0 0 1 0 1
GCC2 0 0 1 0 0 0 1
GCDH, LOC126862860, SYCE2 1 0 0 0 0 0 1
GCH1, LOC130055692 0 0 0 1 0 0 1
GCSH 0 0 0 0 1 0 1
GDF6 0 1 0 0 0 0 1
GFPT1 0 0 1 0 0 0 1
GH-LCR, GH1 0 0 0 1 0 0 1
GIGYF1 0 0 0 1 0 0 1
GJB6 0 1 0 0 0 0 1
GLB1, LOC129936434, TMPPE 0 0 1 0 0 0 1
GLMN 0 0 0 1 0 0 1
GLUD1 0 0 0 1 0 0 1
GLUL, LOC126805944 0 0 1 0 0 0 1
GNAO1 0 1 0 0 0 0 1
GNB2 0 1 0 0 0 0 1
GOSR2, LRRC37A2 0 0 1 0 0 0 1
GPHN 0 0 0 1 0 0 1
GPR143 1 0 0 0 0 0 1
GRIK2 0 0 0 1 0 0 1
GRIN2B 0 0 1 0 0 0 1
GRIP1 0 0 0 0 1 0 1
GRXCR1 0 0 0 1 0 0 1
GRXCR2 0 0 1 0 0 0 1
GSR 0 0 0 0 1 0 1
GSS 0 0 1 0 0 0 1
GTF2H5 0 0 1 0 0 0 1
GUCY2D 0 0 1 0 0 0 1
GUF1 0 0 1 0 0 0 1
GYS2 0 0 1 0 0 0 1
HADH 0 0 0 1 0 0 1
HADHA 0 0 0 0 1 0 1
HADHB 0 0 1 0 0 0 1
HARS1 0 0 1 0 0 0 1
HDAC8 0 0 1 0 0 0 1
HIKESHI 0 1 0 0 0 0 1
HMBS 0 0 0 1 0 0 1
HMGCS2 0 0 0 1 0 0 1
HNF1B 0 0 0 0 1 0 1
HNMT 0 1 0 0 0 0 1
HNRNPU 1 0 0 0 0 0 1
HOXA13, LOC107126288 0 0 0 1 0 0 1
HPD 0 0 0 0 1 0 1
HPS1, MIR4685 1 0 0 0 0 0 1
HPS4 0 0 1 0 0 0 1
HPS5 0 0 1 0 0 0 1
HPS6 0 0 0 0 1 0 1
HPSE2 0 0 0 1 0 0 1
HSPD1 0 0 1 0 0 0 1
HTT 0 0 0 1 0 0 1
HYCC1 0 0 1 0 0 0 1
HYDIN 0 0 0 1 0 0 1
IARS2 0 0 1 0 0 0 1
IDH2 0 0 1 0 0 0 1
IDUA 0 0 0 0 1 0 1
IER3IP1 0 0 1 0 0 0 1
IFNGR2 0 0 0 1 0 0 1
IFT122 0 0 0 1 0 0 1
IFT140 0 0 1 0 0 0 1
IFT80, TRIM59-IFT80 0 0 0 0 1 0 1
IGF1, LINC02456 0 0 0 1 0 0 1
IGSF1 0 0 1 0 0 0 1
IKBKG 0 0 0 0 1 0 1
IL12RB1 0 0 0 0 1 0 1
IL1RAPL1 0 0 1 0 0 0 1
IL2RG 1 0 0 0 0 0 1
IL4I1, NUP62 0 0 0 1 0 0 1
INS, INS-IGF2 1 0 0 0 0 0 1
INSR 0 0 0 1 0 0 1
IQSEC2 0 0 0 0 1 0 1
IRF6 1 0 0 0 0 0 1
ITCH 0 0 1 0 0 0 1
ITGA2B 0 0 0 0 1 0 1
ITGB2 0 0 0 1 0 0 1
ITGB3 0 0 0 1 0 0 1
ITPA 0 0 0 1 0 0 1
IVD 1 0 0 0 0 0 1
JAK3 0 0 0 0 1 0 1
JUP 0 0 0 1 0 0 1
KCNA1 1 0 0 0 0 0 1
KCNA5 0 0 0 0 1 0 1
KCNC1 0 0 0 1 0 0 1
KCNH1 0 1 0 0 0 0 1
KDM1A 0 1 0 0 0 0 1
KDM3B 0 1 0 0 0 0 1
KDM5B 0 1 0 0 0 0 1
KEL 0 0 0 0 1 0 1
KIDINS220 0 0 1 0 0 0 1
KIF11 0 0 0 0 1 0 1
KIF14 0 0 0 1 0 0 1
KIF1C 0 0 1 0 0 0 1
KIF2A 0 0 0 1 0 0 1
KIF7, LOC126862216 0 0 1 0 0 0 1
KISS1R 0 0 0 1 0 0 1
KIT 0 0 0 1 0 0 1
KLF11 0 0 0 0 1 0 1
KLHL41 0 0 0 1 0 0 1
KLLN 0 0 1 0 0 0 1
KMT2B 0 0 0 1 0 0 1
KMT2C 0 1 0 0 0 0 1
KMT2D, LOC126861520 0 0 0 1 0 0 1
KPNA7 0 0 1 0 0 0 1
KRAS 0 0 0 1 0 0 1
KRT5 0 0 0 1 0 0 1
KRT5, LOC126861526 0 0 0 1 0 0 1
KRT74 0 0 0 0 1 0 1
KRT83 0 0 0 1 0 0 1
KRTAP10-1, TSPEAR 0 0 0 1 0 0 1
KRTAP10-4, TSPEAR 0 0 0 0 1 0 1
KRTAP10-6, TSPEAR 0 0 0 1 0 0 1
KRTAP10-7, TSPEAR 0 0 0 1 0 0 1
LAMC3, LOC126860777 0 0 0 1 0 0 1
LAMP2 0 0 0 0 1 0 1
LARGE1 0 0 0 0 1 0 1
LAS1L 0 0 1 0 0 0 1
LBHD1, UQCC3 0 0 0 1 0 0 1
LBR 0 0 0 1 0 0 1
LDB3 0 0 0 1 0 0 1
LDB3, LOC110121486 0 0 0 1 0 0 1
LDLR 0 0 0 0 1 0 1
LEMD3 0 0 1 0 0 0 1
LIG4 1 0 0 0 0 0 1
LMBRD1 1 0 0 0 0 0 1
LMNA, LOC126805877 0 0 0 1 0 0 1
LMNB2 0 0 1 0 0 0 1
LMX1B 1 0 0 0 0 0 1
LOC101927055, TTN 0 0 0 0 1 0 1
LOC101928008, SBF2 0 0 0 1 0 0 1
LOC105369937, MYBPC1 0 0 0 1 0 0 1
LOC105378311, PCDH15 0 0 0 1 0 0 1
LOC108660405, PPP2R2B 0 0 0 1 0 0 1
LOC108663996, TBP 0 0 0 1 0 0 1
LOC109611589, RUNX2 0 0 0 1 0 0 1
LOC110121269, SCN5A 0 0 0 0 1 0 1
LOC110806306, TERC 0 0 0 1 0 0 1
LOC112529895, SCO1 0 0 0 1 0 0 1
LOC112533672, UNC13D 0 0 1 0 0 0 1
LOC113788277, PLPBP 0 0 0 1 0 0 1
LOC113788297, NDUFAF6 0 0 0 1 0 0 1
LOC114827851, MYH6 0 0 0 0 1 0 1
LOC121740638, TFAP2A 0 0 1 0 0 0 1
LOC121852963, RNF125 0 0 1 0 0 0 1
LOC126805704, SNIP1 0 0 1 0 0 0 1
LOC126806211, TTC7A 0 0 0 1 0 0 1
LOC126806430, TTN 0 0 0 1 0 0 1
LOC126806431, TTN 0 0 0 1 0 0 1
LOC126807094, PRDM8 0 0 0 1 0 0 1
LOC126807323, TRIO 0 0 0 1 0 0 1
LOC126807509, UQCRQ 0 0 1 0 0 0 1
LOC126859646, VARS2 0 0 0 1 0 0 1
LOC126859807, TNFAIP3 1 0 0 0 0 0 1
LOC126860130, RELN, SLC26A5 0 0 0 1 0 0 1
LOC126860131, RELN 0 0 0 1 0 0 1
LOC126860438, NBN 0 0 0 1 0 0 1
LOC126860498, WASHC5 0 0 0 1 0 0 1
LOC126860741, TNC 0 0 1 0 0 0 1
LOC126861242, NDUFV1 0 0 0 1 0 0 1
LOC126862422, MLYCD 0 0 0 1 0 0 1
LOC126862493, MYH8, MYHAS 0 0 0 1 0 0 1
LOC126862500, MYH2, MYHAS 0 0 1 0 0 0 1
LOC126862983, MGME1 0 0 0 1 0 0 1
LOC126863188, SHANK3 0 0 0 1 0 0 1
LOC129934069, SPR 0 0 0 1 0 0 1
LOC129934769, VMA22 0 0 1 0 0 0 1
LOC129937586, NPHP3, NPHP3-ACAD11 0 0 0 0 1 0 1
LOC129992304, QDPR 0 0 0 1 0 0 1
LOC129992625, SRP72 0 0 0 1 0 0 1
LOC129996857, NDUFAF4 0 0 0 1 0 0 1
LOC130000338, MCM4 0 0 1 0 0 0 1
LOC130001411, RECQL4 0 0 0 1 0 0 1
LOC130002133, PTCH1 0 0 1 0 0 0 1
LOC130004408, TCTN3 0 0 0 1 0 0 1
LOC130006027, LTBP3 1 0 0 0 0 0 1
LOC130008755, TCTN1 0 0 0 1 0 0 1
LOC130009266, POLE 0 0 1 0 0 0 1
LOC130009747, SUCLA2 0 0 1 0 0 0 1
LOC130062062, TBCD 0 0 1 0 0 0 1
LOC130067574, TNFRSF13C 0 0 0 1 0 0 1
LOC130067864, TYMP 0 0 0 1 0 0 1
LOC130068621, NDUFA1 0 0 0 0 1 0 1
LOC130068746, SLC9A6 0 0 0 0 1 0 1
LOC130068854, MECP2 1 0 0 0 0 0 1
LONP1 0 0 0 1 0 0 1
LOX, SRFBP1 0 0 0 1 0 0 1
LPIN2 0 0 0 1 0 0 1
LRIT3 0 0 0 1 0 0 1
LRSAM1 0 0 0 1 0 0 1
LTBP2 0 0 0 1 0 0 1
LTBP3 0 1 0 0 0 0 1
LZTR1 0 0 0 1 0 0 1
MAF 0 0 0 1 0 0 1
MAF, WWOX 0 0 0 1 0 0 1
MAG 0 0 1 0 0 0 1
MAGED2 0 0 0 1 0 0 1
MAGT1 0 0 0 1 0 0 1
MALT1 0 0 0 1 0 0 1
MANBA 0 1 0 0 0 0 1
MAP2K1 0 0 0 0 1 0 1
MAP2K2 0 0 0 1 0 0 1
MAP3K7 0 1 0 0 0 0 1
MBD6 0 0 0 1 0 0 1
MBOAT7 0 0 0 1 0 0 1
MC2R 0 0 0 0 1 0 1
MC4R 0 0 0 1 0 0 1
MCCC2 0 0 1 0 0 0 1
MCPH1 0 0 0 1 0 0 1
MDH2 0 0 0 1 0 0 1
MESP2 0 0 0 1 0 0 1
MET 0 0 0 1 0 0 1
MGAT2 0 0 1 0 0 0 1
MGP 0 0 1 0 0 0 1
MHRT, MYH7 0 0 1 0 0 0 1
MID2 0 0 0 1 0 0 1
MPDU1 0 0 0 1 0 0 1
MPI 0 0 0 1 0 0 1
MRPL16 0 0 0 1 0 0 1
MRPL3 0 0 0 1 0 0 1
MRPL44 0 0 1 0 0 0 1
MRPS22 0 0 0 0 1 0 1
MSC, TRPA1 0 0 0 1 0 0 1
MSH2 0 0 0 0 1 0 1
MSH6 0 0 1 0 0 0 1
MST1R 0 0 0 0 1 0 1
MT-ATP6, MT-ATP8, MT-CO1, MT-CO2, MT-CO3, MT-ND1, MT-ND2, MT-ND3, MT-ND4, MT-ND4L, MT-ND5, MT-TA, MT-TC, MT-TD, MT-TG, MT-TH, MT-TI, MT-TK, MT-TM, MT-TN, MT-TQ, MT-TR, MT-TS1, MT-TS2, MT-TW, MT-TY 1 0 0 0 0 0 1
MT-ND1, MT-RNR1 1 0 0 0 0 0 1
MT-TE 1 0 0 0 0 0 1
MT-TI 0 0 1 0 0 0 1
MT-TK 1 0 0 0 0 0 1
MT-TL1 1 0 0 0 0 0 1
MT-TS2 0 0 0 0 1 0 1
MT-TW 0 0 0 1 0 0 1
MTIF3 0 0 0 1 0 0 1
MTMR14 0 0 1 0 0 0 1
MTOR 1 0 0 0 0 0 1
MTPAP 0 0 1 0 0 0 1
MTR 0 0 1 0 0 0 1
MUTYH 0 0 0 1 0 0 1
MUTYH, TOE1 0 0 0 1 0 0 1
MVK 0 0 0 1 0 0 1
MYADML2 0 0 1 0 0 0 1
MYBPC1 0 0 0 0 1 0 1
MYBPC3 0 0 0 1 0 0 1
MYD88 1 0 0 0 0 0 1
MYH2, MYHAS 0 0 0 1 0 0 1
MYH6 0 0 0 1 0 0 1
MYH8, MYHAS 1 0 0 0 0 0 1
MYLK 0 0 0 1 0 0 1
MYOC 0 0 0 1 0 0 1
MYPN 0 0 0 1 0 0 1
NAGLU 0 0 0 0 1 0 1
NALCN 0 0 0 1 0 0 1
NBN 0 0 0 0 1 0 1
NCAPH2, SCO2, TYMP 0 0 0 1 0 0 1
NDE1 0 0 0 1 0 0 1
NDN 0 0 0 1 0 0 1
NDP 0 0 1 0 0 0 1
NDST1 0 0 0 1 0 0 1
NDUFA9 0 0 1 0 0 0 1
NDUFAF1 0 0 0 1 0 0 1
NDUFAF3 0 1 0 0 0 0 1
NDUFAF5 0 0 1 0 0 0 1
NDUFAF6 0 0 0 1 0 0 1
NDUFB11 0 0 0 1 0 0 1
NDUFB9 0 0 1 0 0 0 1
NECTIN1 0 0 0 1 0 0 1
NFIA 0 0 0 1 0 0 1
NFKB1 0 0 0 1 0 0 1
NHEJ1 0 0 1 0 0 0 1
NHP2 0 0 0 1 0 0 1
NLGN3 0 0 1 0 0 0 1
NLGN4X 0 0 0 1 0 0 1
NLGN4Y 0 0 1 0 0 0 1
NLRP14 0 0 0 0 1 0 1
NOD2 0 0 0 1 0 0 1
NOP10 0 0 0 1 0 0 1
NPC1L1 0 0 0 1 0 0 1
NPC2 0 0 1 0 0 0 1
NPHP1 0 0 0 1 0 0 1
NPR2 0 0 1 0 0 0 1
NR2E3 0 0 0 1 0 0 1
NSDHL 0 0 0 1 0 0 1
OCLN 0 0 0 0 1 0 1
ODAD3 0 0 0 0 1 0 1
OPA1 0 0 1 0 0 0 1
OTOA 0 0 1 0 0 0 1
OTOGL 0 0 1 0 0 0 1
P3H1 1 0 0 0 0 0 1
PACS1 1 0 0 0 0 0 1
PANK2 1 0 0 0 0 0 1
PARN 0 0 1 0 0 0 1
PAX2 0 1 0 0 0 0 1
PAX3 0 0 1 0 0 0 1
PCCB 0 0 0 1 0 0 1
PCLO 0 0 1 0 0 0 1
PDE10A 0 0 1 0 0 0 1
PDE11A 0 0 0 1 0 0 1
PDE4A 0 0 0 1 0 0 1
PDE6B 0 0 0 1 0 0 1
PDE6D 0 0 0 1 0 0 1
PDSS1 0 0 1 0 0 0 1
PDX1 0 0 0 1 0 0 1
PDYN 0 0 0 1 0 0 1
PEPD 0 0 0 1 0 0 1
PER2 0 0 0 1 0 0 1
PET100, STXBP2 0 0 0 1 0 0 1
PEX13 0 0 0 1 0 0 1
PEX7 0 0 0 1 0 0 1
PGAP1 0 0 0 1 0 0 1
PGAP2 0 0 1 0 0 0 1
PGM1 0 0 0 1 0 0 1
PGM3 0 0 1 0 0 0 1
PHGDH 0 0 0 1 0 0 1
PI4KA 0 1 0 0 0 0 1
PIGO 0 0 0 1 0 0 1
PIK3CD 1 0 0 0 0 0 1
PIK3R5 0 0 1 0 0 0 1
PINK1 0 0 1 0 0 0 1
PKD1 0 0 0 1 0 0 1
PKD1, TSC2 0 0 0 1 0 0 1
PKD2 0 0 0 0 1 0 1
PLA2G6 0 0 1 0 0 0 1
PLCE1 0 0 1 0 0 0 1
PLOD3 0 0 0 1 0 0 1
PMVK 0 0 0 1 0 0 1
PNKD, TMBIM1 0 0 0 1 0 0 1
PNP 0 0 0 0 1 0 1
PNPT1 0 0 0 1 0 0 1
POC1A 0 0 1 0 0 0 1
POFUT1 0 0 0 1 0 0 1
POLR1A 0 0 0 1 0 0 1
POLR1C 1 0 0 0 0 0 1
POLR2F, SOX10 0 0 0 0 1 0 1
POMGNT1, TSPAN1 1 0 0 0 0 0 1
PPP1CB 1 0 0 0 0 0 1
PRICKLE1 0 0 1 0 0 0 1
PRKCG 0 0 0 0 1 0 1
PRKD1 0 0 0 1 0 0 1
PRMT7 0 0 0 1 0 0 1
PRODH 0 1 0 0 0 0 1
PROP1 0 0 0 0 1 0 1
PROS1 0 0 1 0 0 0 1
PRX 0 0 0 1 0 0 1
PSAP 0 0 1 0 0 0 1
PTCH2 0 0 1 0 0 0 1
PTH1R 0 0 0 1 0 0 1
PTPRQ 0 0 0 1 0 0 1
PYGM 1 0 0 0 0 0 1
RAB23 0 0 0 1 0 0 1
RAB27A 0 0 1 0 0 0 1
RAD21 0 0 0 1 0 0 1
RAD51C 0 0 0 1 0 0 1
RB1 0 0 0 1 0 0 1
RBP3 0 0 1 0 0 0 1
RDX 0 1 0 0 0 0 1
REEP1 0 0 1 0 0 0 1
RELN, SLC26A5 0 0 1 0 0 0 1
REST 0 0 1 0 0 0 1
RFX6 0 0 1 0 0 0 1
RIGI 0 0 0 1 0 0 1
RIN2 0 0 0 0 1 0 1
RIPK4 0 0 0 0 1 0 1
RLIM 0 0 0 1 0 0 1
RNASEH2A 0 1 0 0 0 0 1
RNASEH2B 0 0 0 1 0 0 1
RNASET2 0 0 0 1 0 0 1
RNF213 0 0 0 1 0 0 1
RORA 1 0 0 0 0 0 1
RPGRIP1 0 0 0 0 1 0 1
RPL10 0 0 1 0 0 0 1
RPL11 0 0 0 1 0 0 1
RPL17, RPL17-C18orf32 0 1 0 0 0 0 1
RTN2 0 0 0 1 0 0 1
RUBCN 0 0 1 0 0 0 1
RUNX2 0 0 0 1 0 0 1
SAG 0 0 0 1 0 0 1
SALL4 0 0 0 1 0 0 1
SAMD9 0 0 0 1 0 0 1
SAMHD1 0 0 1 0 0 0 1
SARM1, SLC46A1 0 0 0 1 0 0 1
SARS2 0 0 0 1 0 0 1
SASS6 0 0 1 0 0 0 1
SBF1 0 0 0 1 0 0 1
SBF2 0 0 0 1 0 0 1
SBNO2 0 0 1 0 0 0 1
SCARF2 0 0 1 0 0 0 1
SCN1B 0 0 0 1 0 0 1
SCN4A 0 0 0 1 0 0 1
SCN7A 0 0 0 0 1 0 1
SCNN1G 0 0 0 0 1 0 1
SDCCAG8 0 0 0 1 0 0 1
SDHD 0 0 0 1 0 0 1
SDK1 0 0 0 1 0 0 1
SEC23B 0 0 0 1 0 0 1
SEMA3E 0 0 0 1 0 0 1
SFTPB 0 0 0 0 1 0 1
SFTPC 0 0 1 0 0 0 1
SGCA 1 0 0 0 0 0 1
SGCD 0 0 0 1 0 0 1
SH2D1A 0 0 0 0 1 0 1
SH3TC2 1 0 0 0 0 0 1
SHOC2 0 0 0 0 1 0 1
SIX3 0 0 0 1 0 0 1
SLC11A2 0 0 0 1 0 0 1
SLC12A1 0 0 1 0 0 0 1
SLC12A3 0 0 0 1 0 0 1
SLC1A2 0 0 1 0 0 0 1
SLC24A2 0 0 0 1 0 0 1
SLC25A15 1 0 0 0 0 0 1
SLC25A20 0 0 0 1 0 0 1
SLC25A26 0 0 1 0 0 0 1
SLC26A2 1 0 0 0 0 0 1
SLC26A3 0 0 0 1 0 0 1
SLC33A1 0 0 1 0 0 0 1
SLC34A3 1 0 0 0 0 0 1
SLC35C1 0 0 1 0 0 0 1
SLC37A4 0 0 0 1 0 0 1
SLC39A13 0 0 0 1 0 0 1
SLC39A4 0 0 0 0 1 0 1
SLC4A1 1 0 0 0 0 0 1
SLC4A4 0 0 0 1 0 0 1
SLC52A1 0 0 0 0 1 0 1
SLC52A2 1 0 0 0 0 0 1
SLC52A3 0 0 0 0 1 0 1
SLC5A1 0 0 1 0 0 0 1
SLC5A5 0 0 0 0 1 0 1
SLC6A17 0 0 0 1 0 0 1
SLC6A3 0 0 1 0 0 0 1
SLC6A5 0 0 0 1 0 0 1
SLC9A6 0 0 0 1 0 0 1
SLCO1B1 0 0 0 0 1 0 1
SMARCA2 0 0 0 1 0 0 1
SMARCB1 0 1 0 0 0 0 1
SNHG14, SNRPN, SNURF 0 0 0 1 0 0 1
SNX14 0 1 0 0 0 0 1
SOX3 0 0 0 0 1 0 1
SP110, SP140 0 0 0 0 1 0 1
SPAG1 1 0 0 0 0 0 1
SPART 0 0 1 0 0 0 1
SPG7 0 0 1 0 0 0 1
SPINK5 0 0 0 1 0 0 1
SPR 1 0 0 0 0 0 1
SPRED1 0 0 1 0 0 0 1
SPTA1 0 0 0 1 0 0 1
SPTLC2 0 0 0 1 0 0 1
SRD5A3 0 0 0 1 0 0 1
SRPX2 0 0 0 1 0 0 1
ST3GAL3 0 0 1 0 0 0 1
STAT2 0 0 1 0 0 0 1
STAT3 1 0 0 0 0 0 1
STIM1 0 0 1 0 0 0 1
STRA6 0 0 0 1 0 0 1
STRADA 0 0 0 1 0 0 1
STRC 0 0 0 1 0 0 1
STX1B 0 0 1 0 0 0 1
STXBP1 0 0 0 1 0 0 1
SUFU 0 0 0 1 0 0 1
SUOX 0 0 1 0 0 0 1
SYNE4 0 0 1 0 0 0 1
SYNJ1 0 0 0 1 0 0 1
SYNPO 0 0 0 1 0 0 1
SYT2 0 0 0 1 0 0 1
TACO1 0 0 0 0 1 0 1
TACR3 0 0 0 1 0 0 1
TAF1 0 0 0 1 0 0 1
TAFAZZIN 0 0 0 0 1 0 1
TALDO1 0 0 0 1 0 0 1
TANGO2 0 0 0 1 0 0 1
TAP2 0 0 0 1 0 0 1
TARS2 0 0 0 1 0 0 1
TBCEL-TECTA, TECTA 0 0 1 0 0 0 1
TBX1 0 0 1 0 0 0 1
TBX20 0 0 1 0 0 0 1
TBX22 0 0 0 1 0 0 1
TBXT 0 0 0 1 0 0 1
TCF3 0 0 0 1 0 0 1
TCTN3 0 0 0 1 0 0 1
TECPR2 0 0 0 1 0 0 1
TECR 0 0 1 0 0 0 1
TELO2 0 0 1 0 0 0 1
TERT 0 0 0 1 0 0 1
TF 0 0 0 1 0 0 1
TGFB2 0 0 0 1 0 0 1
TGFB3 1 0 0 0 0 0 1
THRB 0 1 0 0 0 0 1
TMC1 0 0 1 0 0 0 1
TNNI3 0 0 0 0 1 0 1
TNNT2 0 0 1 0 0 0 1
TNPO3 0 0 1 0 0 0 1
TOPORS 0 0 0 1 0 0 1
TOR1A 0 0 1 0 0 0 1
TP53BP1, TUBGCP4 1 0 0 0 0 0 1
TP63 0 0 0 1 0 0 1
TPK1 0 0 0 1 0 0 1
TPM3 1 0 0 0 0 0 1
TPRN 0 0 1 0 0 0 1
TRH 0 0 0 1 0 0 1
TRIM37 0 0 0 1 0 0 1
TRIP4 0 0 1 0 0 0 1
TRMT10C 0 0 0 0 1 0 1
TSEN2 0 0 0 1 0 0 1
TSHZ1 0 0 0 1 0 0 1
TTC8 0 0 1 0 0 0 1
TTLL5 0 0 0 1 0 0 1
TUBA1A 1 0 0 0 0 0 1
TUBB 0 1 0 0 0 0 1
TUBB1 0 0 0 1 0 0 1
TUBG1 0 0 0 1 0 0 1
TUBGCP4 0 0 1 0 0 0 1
TUSC3 0 0 0 1 0 0 1
TWIST1 0 0 1 0 0 0 1
TXN2 0 0 1 0 0 0 1
TYK2 0 0 0 1 0 0 1
TYROBP 0 0 1 0 0 0 1
UBE2H 0 0 1 0 0 0 1
UBR1 0 0 1 0 0 0 1
UNC93B1 0 0 1 0 0 0 1
UROC1 0 0 1 0 0 0 1
USH1C 0 0 1 0 0 0 1
VAPB 0 0 1 0 0 0 1
VLDLR 0 0 1 0 0 0 1
VMA12 0 0 0 1 0 0 1
VPS13A 0 1 0 0 0 0 1
VPS4A 0 0 1 0 0 0 1
VRK1 0 0 1 0 0 0 1
WDR72 0 0 0 1 0 0 1
WDR73 1 0 0 0 0 0 1
XYLT2 0 0 1 0 0 0 1
ZBTB18 0 0 1 0 0 0 1
ZC3H14 0 0 0 1 0 0 1
ZDHHC15 0 0 0 1 0 0 1
ZFPM2 0 0 1 0 0 0 1
ZFYVE27 0 0 1 0 0 0 1
ZIC1 0 0 0 1 0 0 1
ZIC3 0 0 0 1 0 0 1
ZMYND15 0 0 0 1 0 0 1
ZNF41 0 0 0 1 0 0 1
ZNF423 0 0 0 1 0 0 1
ZNF644 0 0 1 0 0 0 1
ZNF668 0 0 1 0 0 0 1

Condition and significance breakdown #

Total conditions: 16
Download table as spreadsheet
Condition pathogenic likely pathogenic uncertain significance likely benign benign drug response total
not provided 363 165 992 1851 578 5 3954
Intellectual disability 1 2 1 0 0 0 4
Global developmental delay 1 1 0 0 0 0 2
Hermansky-Pudlak syndrome 1 1 1 0 0 0 0 2
Spondyloepiphyseal dysplasia congenita 1 1 0 0 0 0 2
Autism; Epicanthus; Fetal growth restriction; Failure to thrive in infancy; Pancytopenia; Triangular face; High forehead; Small for gestational age; Macrocytic anemia; Attention deficit hyperactivity disorder 0 1 0 0 0 0 1
Cognitive impairment 0 1 0 0 0 0 1
Delayed gross motor development 1 0 0 0 0 0 1
Delayed skeletal maturation 0 1 0 0 0 0 1
Familial hemophagocytic lymphohistiocytosis 2 0 0 1 0 0 0 1
Generalized muscle weakness 1 0 0 0 0 0 1
Intellectual disability, X-linked 101 1 0 0 0 0 0 1
Lissencephaly 1 0 0 0 0 0 1
Macrocephaly-developmental delay syndrome 1 0 0 0 0 0 1
Peripheral axonal neuropathy 1 0 0 0 0 0 1
Transposition of the great arteries 1 0 0 0 0 0 1

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