ClinVar Miner

Variants from MGZ Medical Genetics Center

Location: Germany  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 total
836 902 1253 103 9 3103

Gene and significance breakdown #

Total genes and gene combinations: 1034
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Gene or gene combination pathogenic likely pathogenic uncertain significance likely benign benign total
BRCA2 41 12 13 66 2 134
BRCA1 19 6 6 22 6 59
NF1 30 10 18 0 0 58
ATM 9 7 38 0 0 54
CHEK2 6 8 19 0 0 33
RYR1 6 8 19 0 0 33
PALB2 10 5 16 0 0 31
ATM, C11orf65 7 3 20 0 0 30
MSH6 8 7 9 0 0 24
CFTR 9 4 10 0 0 23
CLCN1 12 4 6 0 0 22
LDLR 8 11 3 0 0 22
NOTCH3 9 7 6 0 0 22
BARD1 2 3 14 0 0 19
BRIP1 3 6 10 0 0 19
PMS2 6 5 7 0 0 18
ABCA4 9 6 2 0 0 17
APC 3 9 5 0 0 17
GH-LCR, SCN4A 7 3 7 0 0 17
MSH2 5 3 9 0 0 17
PKD1 8 1 7 0 0 16
POLE 0 0 16 0 0 16
CAPN3 7 3 5 0 0 15
MLH1 8 2 5 0 0 15
ANO5 5 5 4 0 0 14
DMD 3 5 6 0 0 14
MUTYH 5 1 8 0 0 14
RAD51D, RAD51L3-RFFL 2 2 10 0 0 14
STK11 2 1 11 0 0 14
BRCA1, LOC126862571 7 0 2 4 0 13
FBN1 1 6 6 0 0 13
LOC102724058, SCN1A 2 7 4 0 0 13
LZTR1 5 7 1 0 0 13
POLG, POLGARF 5 4 4 0 0 13
SPAST 2 7 4 0 0 13
SPG7 3 5 5 0 0 13
TYR 7 5 1 0 0 13
CACNA1A 2 3 7 0 0 12
CDH1 3 1 8 0 0 12
HBB, LOC106099062, LOC107133510 11 0 1 0 0 12
OPA1 5 3 4 0 0 12
SHANK3 2 4 6 0 0 12
SLC12A3 3 5 4 0 0 12
TNXB 0 1 11 0 0 12
ANKRD11 4 5 2 0 0 11
GAA 6 1 4 0 0 11
KCNQ1 8 3 0 0 0 11
PTPN11 9 2 0 0 0 11
SCN2A 1 2 8 0 0 11
TP53 5 0 6 0 0 11
TSC2 4 0 7 0 0 11
COL1A2 4 3 3 0 0 10
COL6A3 1 4 5 0 0 10
DYSF 2 4 4 0 0 10
FH 4 4 2 0 0 10
KCNQ2 3 5 2 0 0 10
NSD1 3 3 4 0 0 10
PTEN 6 3 1 0 0 10
RET 4 3 3 0 0 10
RYR2 1 0 9 0 0 10
TSC1 5 2 3 0 0 10
COL1A1 4 3 2 0 0 9
COL2A1 2 5 2 0 0 9
GCK 1 6 2 0 0 9
GDAP1 4 2 3 0 0 9
GJB1 5 4 0 0 0 9
GJB2 9 0 0 0 0 9
MEFV 2 2 5 0 0 9
MYBPC3 4 4 1 0 0 9
OCA2 3 4 2 0 0 9
WFS1 2 4 3 0 0 9
CHD7 0 3 5 0 0 8
COL5A1 0 2 5 1 0 8
FLCN 3 4 1 0 0 8
POLD1 0 0 8 0 0 8
SCN1A 3 5 0 0 0 8
SETX 0 3 5 0 0 8
SLC2A1 3 3 2 0 0 8
TTN 2 2 4 0 0 8
ACADM 3 2 2 0 0 7
BEST1 0 6 1 0 0 7
COL4A1 1 1 5 0 0 7
COL4A5 1 4 2 0 0 7
EYS 2 4 1 0 0 7
KMT2D 2 1 4 0 0 7
LAMA2 3 3 1 0 0 7
LMNA 0 5 2 0 0 7
MEN1 1 4 2 0 0 7
MVP-DT, PRRT2 3 3 1 0 0 7
MYH7 0 3 4 0 0 7
PKD2 6 1 0 0 0 7
PKHD1 3 1 3 0 0 7
PTCH1 0 6 1 0 0 7
SCN10A 0 0 7 0 0 7
SDHB 6 1 0 0 0 7
USH2A 4 1 2 0 0 7
ACAD9 0 5 1 0 0 6
BTD 3 2 1 0 0 6
COL3A1 0 1 5 0 0 6
COL4A3, MFF-DT 1 4 1 0 0 6
COL5A1, LOC101448202 0 1 5 0 0 6
COL6A2 0 1 5 0 0 6
DYNC1H1 0 1 4 1 0 6
GALC 1 3 2 0 0 6
HEXA 4 0 2 0 0 6
KIF5A 0 2 4 0 0 6
KMT2C 1 1 4 0 0 6
MECP2 5 0 1 0 0 6
RAD51C 2 2 2 0 0 6
SACS 1 3 2 0 0 6
SORD 2 0 4 0 0 6
WNT10A 2 4 0 0 0 6
ABCD1 0 3 2 0 0 5
ALPL 1 3 1 0 0 5
ASXL3 2 1 2 0 0 5
ATP1A3 2 2 1 0 0 5
CACNA1S 0 2 3 0 0 5
CHD3 0 1 4 0 0 5
CPT2 2 0 3 0 0 5
DNM2 3 1 1 0 0 5
DYRK1A 3 2 0 0 0 5
FGFR3 3 2 0 0 0 5
FIG4 0 3 2 0 0 5
FKRP 1 3 1 0 0 5
GABBR2 0 1 4 0 0 5
GLB1 1 3 1 0 0 5
KMT2A 1 2 2 0 0 5
MPZ 0 3 2 0 0 5
NEB 2 3 0 0 0 5
NTHL1 2 0 3 0 0 5
PRPH2 3 2 0 0 0 5
SCN5A 0 2 3 0 0 5
SDHD 1 3 1 0 0 5
SETD5 0 3 2 0 0 5
SOD1 0 3 2 0 0 5
SPTBN2 0 0 5 0 0 5
TUBA1A 2 2 1 0 0 5
ABCC8 0 1 3 0 0 4
AFG2A 0 4 0 0 0 4
ARID1B 1 2 1 0 0 4
BPTF 0 1 3 0 0 4
CASD1, SGCE 3 0 1 0 0 4
CDKN2A 3 1 0 0 0 4
CEP290 3 0 0 1 0 4
CFTR, LOC111674472 2 0 2 0 0 4
COL18A1 2 0 2 0 0 4
CREBBP 2 0 1 1 0 4
DICER1 0 1 3 0 0 4
ETFDH 1 1 2 0 0 4
G6PD 4 0 0 0 0 4
GRIN2A 0 2 2 0 0 4
IDS, LOC106050102 3 0 1 0 0 4
KIF1A 2 1 1 0 0 4
KIF21A 1 0 3 0 0 4
LAMA1 2 1 1 0 0 4
LOC126862264, MEFV 3 0 1 0 0 4
MC4R 0 3 1 0 0 4
MSH3 1 1 2 0 0 4
MT-ND5 1 0 3 0 0 4
MTM1 0 2 2 0 0 4
MYH11 0 0 4 0 0 4
NEFL 0 0 4 0 0 4
NUS1 0 2 2 0 0 4
PAH 2 2 0 0 0 4
POMT1 2 1 1 0 0 4
PSEN1 1 2 1 0 0 4
PURA 0 4 0 0 0 4
RPGR 2 2 0 0 0 4
SELENON 3 1 0 0 0 4
SH3TC2 1 2 1 0 0 4
SKI 0 1 2 1 0 4
SMAD4 1 2 1 0 0 4
SMCHD1 0 2 2 0 0 4
SPTLC2 0 1 3 0 0 4
STXBP1 3 1 0 0 0 4
TANC2 0 0 4 0 0 4
TGFBR1 0 3 1 0 0 4
TRIP12 1 1 1 1 0 4
TRRAP 0 0 4 0 0 4
UGT1A, UGT1A1, UGT1A10, UGT1A3, UGT1A4, UGT1A5, UGT1A6, UGT1A7, UGT1A8, UGT1A9 0 0 4 0 0 4
AAAS 0 2 1 0 0 3
ABCC6 1 0 2 0 0 3
ACADS 1 2 0 0 0 3
ACTG1 0 1 2 0 0 3
ACVRL1 2 1 0 0 0 3
ADAT3, SCAMP4 0 0 3 0 0 3
APOB 1 0 2 0 0 3
ARID1A 0 1 2 0 0 3
ATP1A2 0 0 3 0 0 3
ATRX 0 1 2 0 0 3
BAP1 0 1 2 0 0 3
BSCL2, HNRNPUL2-BSCL2 1 0 2 0 0 3
CACNA1C 0 0 3 0 0 3
CACNA1F 1 1 1 0 0 3
CASR 1 0 2 0 0 3
CDK13 1 0 2 0 0 3
CDKL5 0 1 2 0 0 3
CHD8 2 0 1 0 0 3
CHRND 1 1 1 0 0 3
CHST6 1 0 2 0 0 3
COL11A1 0 0 3 0 0 3
COL12A1 0 1 2 0 0 3
CUL3 1 2 0 0 0 3
DES 0 0 3 0 0 3
DHCR7 1 2 0 0 0 3
DSP 0 2 1 0 0 3
EHMT1 1 2 0 0 0 3
EIF2B5 1 0 2 0 0 3
EP300 0 0 3 0 0 3
EYA1 0 3 0 0 0 3
GABRG2 0 1 2 0 0 3
GBE1 1 2 0 0 0 3
GMPPB 0 2 1 0 0 3
GNE 1 1 1 0 0 3
GPHN, RDH12 1 1 1 0 0 3
GRIN2B 0 1 2 0 0 3
HNF1A 2 0 1 0 0 3
HSPB1 0 1 2 0 0 3
HUWE1 0 0 3 0 0 3
IGHMBP2 0 3 0 0 0 3
IMPG2 0 2 1 0 0 3
ITPR1 1 1 1 0 0 3
JAG1 1 0 2 0 0 3
KAT6A 0 3 0 0 0 3
KCNA2 1 0 2 0 0 3
KCNB1 0 2 1 0 0 3
KDM5C 0 2 1 0 0 3
KIF11 1 1 0 1 0 3
KMT2E 1 1 1 0 0 3
KRIT1 1 2 0 0 0 3
LOC126861898, MYH7 1 2 0 0 0 3
LOC126863253, UBA1 0 3 0 0 0 3
LOXHD1 1 1 1 0 0 3
LRSAM1 0 3 0 0 0 3
MAN2B1 2 1 0 0 0 3
MED13L 0 2 1 0 0 3
MFN2 1 1 1 0 0 3
MICU1 1 1 1 0 0 3
MMACHC 1 0 2 0 0 3
MME 2 1 0 0 0 3
MPV17 2 1 0 0 0 3
MYH11, NDE1 0 1 2 0 0 3
MYH6 0 0 3 0 0 3
MYT1L 0 3 0 0 0 3
NCAPH2, SCO2 1 0 2 0 0 3
NF2 1 0 2 0 0 3
NIPBL 0 1 2 0 0 3
NOTCH2 0 0 3 0 0 3
OTC 2 0 1 0 0 3
PKP2 2 1 0 0 0 3
POGZ 2 0 1 0 0 3
PYGM 2 0 1 0 0 3
RP1 0 1 2 0 0 3
RPE65 1 0 2 0 0 3
SCN4A 0 1 2 0 0 3
SETD1B 0 0 3 0 0 3
SETD2 0 0 3 0 0 3
SIN3A 1 0 2 0 0 3
SLC26A4 3 0 0 0 0 3
SLC34A3 0 3 0 0 0 3
SLC3A1 0 2 1 0 0 3
SLC52A3 0 1 2 0 0 3
SLC6A1 0 2 1 0 0 3
SMAD3 0 1 2 0 0 3
SPRED1 0 3 0 0 0 3
SYNGAP1 0 2 1 0 0 3
TBK1 1 0 2 0 0 3
TGFB2 1 2 0 0 0 3
TNFRSF1A 0 3 0 0 0 3
TP63 0 3 0 0 0 3
TRIO 1 2 0 0 0 3
TTR 1 1 1 0 0 3
UMOD 0 1 2 0 0 3
VARS2 1 1 1 0 0 3
AARS1 0 0 2 0 0 2
AARS2, POLR1C 0 1 1 0 0 2
ABCB11 1 0 1 0 0 2
ACAN 0 1 1 0 0 2
ACO2 0 0 2 0 0 2
ACTA1 0 1 1 0 0 2
ADAMTSL4 1 1 0 0 0 2
ADCY5 0 0 2 0 0 2
ADNP 1 1 0 0 0 2
ADSL 1 0 1 0 0 2
AHDC1 0 1 1 0 0 2
AKAP9 0 0 2 0 0 2
ALDH7A1 2 0 0 0 0 2
ALG8 0 0 2 0 0 2
ALMS1 1 1 0 0 0 2
AMACR, C1QTNF3-AMACR 0 1 1 0 0 2
ANK2 0 1 1 0 0 2
APOA5 2 0 0 0 0 2
ARHGEF10 0 0 2 0 0 2
ARSA 1 0 1 0 0 2
ASH1L 0 1 1 0 0 2
ASPM 0 1 1 0 0 2
ATL1 0 1 1 0 0 2
ATP2A1 0 1 1 0 0 2
ATP7B 2 0 0 0 0 2
ATP8B1 2 0 0 0 0 2
AXIN2 0 1 1 0 0 2
BCL11A 0 1 1 0 0 2
BICRA 0 0 2 0 0 2
BMPR1A 0 0 2 0 0 2
BRAF 1 0 1 0 0 2
C17orf107, CHRNE 0 1 1 0 0 2
CBL 0 1 1 0 0 2
CCDST, FLG 1 1 0 0 0 2
CDC73 1 1 0 0 0 2
CENPF 0 1 1 0 0 2
CEP152 2 0 0 0 0 2
CFTR, LOC111674475 2 0 0 0 0 2
CHD2 1 1 0 0 0 2
CHRNE 0 1 1 0 0 2
CLTC 0 1 1 0 0 2
CNOT3 0 1 1 0 0 2
CNTNAP2 0 0 2 0 0 2
COL4A2 0 0 2 0 0 2
COL4A4 1 1 0 0 0 2
COL5A2 0 0 2 0 0 2
COL6A1 1 1 0 0 0 2
COLQ 1 1 0 0 0 2
COMP 0 2 0 0 0 2
CRB1 1 1 0 0 0 2
CRYAA 1 1 0 0 0 2
CSNK2A1 2 0 0 0 0 2
CSNK2B 0 2 0 0 0 2
CTNNB1, LOC126806659 2 0 0 0 0 2
CTRC 0 0 2 0 0 2
CUBN 0 1 1 0 0 2
CUL4B 0 1 1 0 0 2
CUX2 0 0 2 0 0 2
CYP17A1 2 0 0 0 0 2
CYP2U1 0 1 1 0 0 2
DCHS1 0 1 1 0 0 2
DDHD2 0 2 0 0 0 2
DDX3X 0 1 1 0 0 2
DHTKD1 0 1 1 0 0 2
DLL1 1 0 1 0 0 2
DNAAF1 1 0 1 0 0 2
DNMT3A 0 1 1 0 0 2
DYNC2H1 0 0 2 0 0 2
EBF3 0 1 1 0 0 2
EEF1A2 0 1 1 0 0 2
EFHC1 0 0 2 0 0 2
ERCC4 0 2 0 0 0 2
ETHE1 1 0 1 0 0 2
EXOSC3 2 0 0 0 0 2
EXT1 1 1 0 0 0 2
EXT2 0 1 1 0 0 2
EYS, PHF3 0 2 0 0 0 2
FBN2 0 2 0 0 0 2
FGD1, TSR2 0 1 1 0 0 2
FLNC 0 0 2 0 0 2
FLVCR1 0 0 2 0 0 2
FOXE3, LINC01389 1 0 1 0 0 2
FOXL2 2 0 0 0 0 2
FOXP1, LOC126806714 0 2 0 0 0 2
FOXRED1 1 1 0 0 0 2
FSHR 0 0 2 0 0 2
FSIP2 0 1 1 0 0 2
FUS 0 0 2 0 0 2
GABRB2 0 0 2 0 0 2
GALNT2 0 0 2 0 0 2
GALT 2 0 0 0 0 2
GLA, RPL36A-HNRNPH2 0 0 2 0 0 2
GLI3 1 0 1 0 0 2
GNAO1 1 1 0 0 0 2
GNB1 0 2 0 0 0 2
GNPTAB 1 1 0 0 0 2
GNRHR 0 2 0 0 0 2
GPAA1 0 1 1 0 0 2
GRIN2D 0 0 2 0 0 2
GYG1 1 1 0 0 0 2
HERC2 0 0 2 0 0 2
HGSNAT 1 0 1 0 0 2
HK1 1 1 0 0 0 2
HNF4A 0 0 2 0 0 2
HTRA1 0 1 1 0 0 2
IDUA 1 1 0 0 0 2
IFT140 1 0 1 0 0 2
INF2 0 1 1 0 0 2
IQSEC2 0 1 1 0 0 2
IRAK1BP1, PHIP 1 1 0 0 0 2
ITGB4 0 0 2 0 0 2
JUP 0 0 2 0 0 2
KCNA1 0 1 1 0 0 2
KCNH2 1 0 1 0 0 2
KDM6B 0 2 0 0 0 2
KLHL40 0 1 1 0 0 2
KMT2B 0 0 2 0 0 2
L2HGDH 0 2 0 0 0 2
LARS2 0 1 1 0 0 2
LBR 0 0 2 0 0 2
LOC108281177, SOX2, SOX2-OT 1 1 0 0 0 2
LOC126861897, MHRT, MYH7 0 1 1 0 0 2
LOC126862987, SEC23B 2 0 0 0 0 2
MAF 0 0 2 0 0 2
MAGEL2 1 0 1 0 0 2
MAP1B 0 0 2 0 0 2
MBD5 0 2 0 0 0 2
MFSD8 2 0 0 0 0 2
MMUT 0 1 1 0 0 2
MN1 1 1 0 0 0 2
MNS1, TEX9 0 1 1 0 0 2
MPDZ 0 1 1 0 0 2
MSRB3 0 0 2 0 0 2
MT-ATP6 1 1 0 0 0 2
MT-CO3 0 0 2 0 0 2
MT-ND4 1 0 0 1 0 2
MT-TK 1 0 1 0 0 2
MT-TL1 1 0 1 0 0 2
MTHFR 0 2 0 0 0 2
MYCN, MYCNOS 1 0 1 0 0 2
MYH9 0 0 2 0 0 2
MYL2 1 0 1 0 0 2
MYLK 0 0 2 0 0 2
MYO5B 0 0 2 0 0 2
MYO6 0 1 1 0 0 2
MYO7A 1 1 0 0 0 2
MYORG 0 0 2 0 0 2
MYOT, PKD2L2-DT 1 1 0 0 0 2
MYPN 1 1 0 0 0 2
NDUFS2 0 0 2 0 0 2
NEB, RIF1 0 1 1 0 0 2
NFIB 0 2 0 0 0 2
NHS 0 2 0 0 0 2
NLRP12 0 0 2 0 0 2
NLRP3 0 1 1 0 0 2
NOTCH1 0 0 2 0 0 2
NSD2 1 1 0 0 0 2
NYX 0 2 0 0 0 2
OTOGL 1 1 0 0 0 2
PCDH15 0 2 0 0 0 2
PCDH19 0 0 1 1 0 2
PDE6A 0 2 0 0 0 2
PDE6C 0 0 2 0 0 2
PDHA1 1 1 0 0 0 2
PEX2 1 0 1 0 0 2
PHIP 1 1 0 0 0 2
PHKA1 0 0 2 0 0 2
PIEZO2 1 0 1 0 0 2
PIGO 1 1 0 0 0 2
PIGT 2 0 0 0 0 2
PIK3CA 2 0 0 0 0 2
PLA2G6 0 0 2 0 0 2
PLEC 0 0 2 0 0 2
POLA1 0 0 2 0 0 2
POMT2 0 1 1 0 0 2
PPM1D 1 1 0 0 0 2
PROC 0 2 0 0 0 2
PRODH 0 0 2 0 0 2
PROKR2 1 1 0 0 0 2
PROM1 2 0 0 0 0 2
REEP1 1 1 0 0 0 2
RERE 0 2 0 0 0 2
RIT1 2 0 0 0 0 2
RLIM 0 1 1 0 0 2
RNASEH2B 0 1 1 0 0 2
RORA 0 0 2 0 0 2
RP1L1 0 1 1 0 0 2
SCN8A 0 1 1 0 0 2
SDHA 2 0 0 0 0 2
SEMA6B 0 1 0 1 0 2
SERPINA1 1 1 0 0 0 2
SGCG 1 0 1 0 0 2
SLC16A2 1 1 0 0 0 2
SLC6A17 0 0 2 0 0 2
SMARCB1 0 1 1 0 0 2
SMN1 2 0 0 0 0 2
SMPD1 1 1 0 0 0 2
SNHG14, UBE3A 1 0 1 0 0 2
SOX5 1 1 0 0 0 2
SPEN 1 1 0 0 0 2
SPG11 1 0 1 0 0 2
SPTB 1 1 0 0 0 2
STAG1 0 2 0 0 0 2
SURF1 0 1 1 0 0 2
TANGO2 0 1 1 0 0 2
TAOK1 1 0 1 0 0 2
TARDBP 1 1 0 0 0 2
TET3 0 1 1 0 0 2
TGFBR2 0 0 2 0 0 2
TIMMDC1 0 1 1 0 0 2
TMPRSS6 0 1 1 0 0 2
TNNI3 0 1 1 0 0 2
TPM3 0 0 2 0 0 2
TRMT10A 0 2 0 0 0 2
TSEN54 1 0 1 0 0 2
TSPEAR 1 0 1 0 0 2
TUBB 1 1 0 0 0 2
TUBB1 0 1 1 0 0 2
TUBB2B 0 1 1 0 0 2
TYMP 0 1 1 0 0 2
WAC 0 1 1 0 0 2
WARS2 0 1 1 0 0 2
WDFY3 0 2 0 0 0 2
WDR45 2 0 0 0 0 2
WDR73 0 2 0 0 0 2
ZMYM2 1 0 1 0 0 2
ZMYND11 0 0 2 0 0 2
ZNF462 1 0 1 0 0 2
ZNF469 0 0 2 0 0 2
ABCA1 0 1 0 0 0 1
ABCA4, LOC126805794 0 0 1 0 0 1
ABCC2 0 0 1 0 0 1
ABCC9 0 0 1 0 0 1
ABHD14A-ACY1, ACY1 0 0 1 0 0 1
ABL1 0 1 0 0 0 1
ACAD9, LOC126806807 0 0 1 0 0 1
ACADVL 0 1 0 0 0 1
ACO2, POLR3H 0 1 0 0 0 1
ACSL4 0 1 0 0 0 1
ACTA2 0 0 1 0 0 1
ACTC1, GJD2-DT 0 0 1 0 0 1
ACTG2 0 1 0 0 0 1
ACTL6B 0 1 0 0 0 1
ACTN2 0 0 1 0 0 1
ACVR1 1 0 0 0 0 1
ADAR 0 1 0 0 0 1
ADGRV1 0 0 1 0 0 1
ADSS1 0 1 0 0 0 1
AFF3 0 0 1 0 0 1
AFG2B 0 0 1 0 0 1
AFG3L2 0 0 1 0 0 1
ALS2 0 0 1 0 0 1
ANK2, LOC126807137 0 0 1 0 0 1
ANK3 0 0 1 0 0 1
ANO3 0 0 1 0 0 1
AP4B1 1 0 0 0 0 1
AP4E1 0 1 0 0 0 1
AR 1 0 0 0 0 1
ARF1, LOC126806039 0 0 1 0 0 1
ARHGEF9 0 0 1 0 0 1
ARID2 0 0 1 0 0 1
ARL6 0 0 1 0 0 1
ARSB 1 0 0 0 0 1
ARX, LOC109610631 0 1 0 0 0 1
ASAH1 0 1 0 0 0 1
ASL 1 0 0 0 0 1
ASNS, CZ1P-ASNS 1 0 0 0 0 1
ASXL1 0 0 1 0 0 1
ATAD3A 0 0 1 0 0 1
ATP2A2 0 1 0 0 0 1
ATP6V1A 0 0 1 0 0 1
ATP7A 0 0 1 0 0 1
ATXN7L3, UBTF 0 0 1 0 0 1
AUTS2 0 0 0 1 0 1
AVIL, TSFM 0 0 1 0 0 1
B3GALNT2, TBCE 0 0 1 0 0 1
B3GLCT 1 0 0 0 0 1
B4GAT1 1 0 0 0 0 1
BBS10 1 0 0 0 0 1
BCHE 1 0 0 0 0 1
BHLHA9 0 1 0 0 0 1
BICC1 0 0 1 0 0 1
BICD2 0 0 1 0 0 1
BLM 0 1 0 0 0 1
BRAT1 0 0 1 0 0 1
BRPF1 0 0 1 0 0 1
BRWD3 0 0 1 0 0 1
BTK 0 1 0 0 0 1
CACNA1A, LOC126862866 0 0 1 0 0 1
CACNA1G 0 0 1 0 0 1
CALM2 0 0 1 0 0 1
CAMK2A 0 1 0 0 0 1
CARD8 0 0 1 0 0 1
CASK 0 0 1 0 0 1
CAV3, OXTR 0 1 0 0 0 1
CAV3, SSUH2 1 0 0 0 0 1
CC2D2A 0 0 1 0 0 1
CCM2 0 1 0 0 0 1
CCND2 0 1 0 0 0 1
CDH23 0 1 0 0 0 1
CDK13, LOC129998293 0 0 1 0 0 1
CDK5RAP2 0 1 0 0 0 1
CDKL5, RS1 0 1 0 0 0 1
CDKN1C 0 0 1 0 0 1
CEP57 0 0 1 0 0 1
CEP85L 0 0 1 0 0 1
CEP85L, PLN 0 1 0 0 0 1
CERKL 0 0 1 0 0 1
CFTR, LOC111674463 0 0 1 0 0 1
CHAMP1 0 1 0 0 0 1
CHD1 0 0 1 0 0 1
CHD4 0 1 0 0 0 1
CHRNA2 0 0 1 0 0 1
CIB2, LOC130057683 0 0 1 0 0 1
CIC 0 1 0 0 0 1
CLCN6 0 0 1 0 0 1
CLN6 1 0 0 0 0 1
CNGA3 1 0 0 0 0 1
CNNM2 0 1 0 0 0 1
CNOT1 0 1 0 0 0 1
COL11A2 0 0 1 0 0 1
COL17A1 0 0 1 0 0 1
COL18A1, SLC19A1 0 1 0 0 0 1
COL3A1, LOC126806446 0 0 1 0 0 1
COL7A1 0 1 0 0 0 1
COQ4 0 1 0 0 0 1
CP 0 0 1 0 0 1
CPOX 0 1 0 0 0 1
CPS1 0 1 0 0 0 1
CPT1C 0 0 1 0 0 1
CRIPT 1 0 0 0 0 1
CRPPA 0 0 1 0 0 1
CRX 0 0 1 0 0 1
CRYAB 0 0 1 0 0 1
CRYBA1 0 0 1 0 0 1
CRYBB2 0 0 1 0 0 1
CRYBB3 0 0 1 0 0 1
CRYGC, LOC100507443 0 0 1 0 0 1
CSF1R 0 1 0 0 0 1
CSGALNACT1 1 0 0 0 0 1
CWF19L1 1 0 0 0 0 1
CYCS 0 1 0 0 0 1
CYP21A2, LOC106780800 1 0 0 0 0 1
CYP27A1 1 0 0 0 0 1
CYP7B1 0 1 0 0 0 1
DACT1 0 0 1 0 0 1
DAG1 0 1 0 0 0 1
DALRD3 1 0 0 0 0 1
DCX 0 1 0 0 0 1
DEAF1 0 0 1 0 0 1
DEPDC5 0 1 0 0 0 1
DGUOK 1 0 0 0 0 1
DHFR 0 0 1 0 0 1
DHX37 0 0 1 0 0 1
DIS3L2 0 0 1 0 0 1
DISP1 0 0 1 0 0 1
DLG4 0 0 1 0 0 1
DLG4, LOC126862479 1 0 0 0 0 1
DNA2 0 0 1 0 0 1
DNAH11 0 0 1 0 0 1
DNAJB2 0 1 0 0 0 1
DNAJC30, LOC129998603 0 1 0 0 0 1
DNM1, LOC113839516 0 1 0 0 0 1
DNMT1 0 0 1 0 0 1
DOK7 0 1 0 0 0 1
DOK7, LOC126806951 0 0 1 0 0 1
DPY19L2 0 0 1 0 0 1
DPYS 0 1 0 0 0 1
DSC2 0 0 1 0 0 1
DSG2 0 1 0 0 0 1
DSPP 1 0 0 0 0 1
DVL1 0 1 0 0 0 1
EDA 0 0 1 0 0 1
EFTUD2 0 1 0 0 0 1
EIF3F 0 1 0 0 0 1
EIF3F, LOC126861132 0 0 1 0 0 1
ELANE 0 0 1 0 0 1
ELP1 0 1 0 0 0 1
ELP4, PAX6 0 0 1 0 0 1
EMD 0 1 0 0 0 1
ENG 0 1 0 0 0 1
EPCAM 0 0 1 0 0 1
EPHA2 0 0 1 0 0 1
ERCC2 1 0 0 0 0 1
ETFA 0 1 0 0 0 1
ETFB 0 0 1 0 0 1
EZH2 1 0 0 0 0 1
F7 0 0 1 0 0 1
FA2H, LOC130059394 0 0 1 0 0 1
FANCA 0 1 0 0 0 1
FARS2 0 1 0 0 0 1
FBLN5 0 0 1 0 0 1
FBXO11, LOC100506235 0 0 1 0 0 1
FBXO38 0 0 1 0 0 1
FECH 1 0 0 0 0 1
FGA 0 0 1 0 0 1
FGD4 0 1 0 0 0 1
FGF8 0 0 1 0 0 1
FGFR1 1 0 0 0 0 1
FGFR2 1 0 0 0 0 1
FHL1 0 0 1 0 0 1
FHOD3 0 0 1 0 0 1
FLG 0 1 0 0 0 1
FLNB 0 0 1 0 0 1
FLRT3, MACROD2 0 0 1 0 0 1
FOXF1 0 0 1 0 0 1
FOXP1 0 0 1 0 0 1
FOXP2 0 0 1 0 0 1
FRAS1 0 0 1 0 0 1
FREM2 0 0 1 0 0 1
FRMPD4 0 1 0 0 0 1
FTL 1 0 0 0 0 1
FYCO1 1 0 0 0 0 1
GABRA2 0 0 1 0 0 1
GABRB3 0 0 1 0 0 1
GAN 0 0 1 0 0 1
GARS1 0 0 1 0 0 1
GCH1 1 0 0 0 0 1
GEMIN5 0 1 0 0 0 1
GFAP 0 0 1 0 0 1
GFPT1 0 1 0 0 0 1
GHR 0 0 1 0 0 1
GJA8 0 0 1 0 0 1
GLA, HNRNPH2, RPL36A-HNRNPH2 1 0 0 0 0 1
GLI1 0 0 1 0 0 1
GLMN 0 1 0 0 0 1
GNAS 1 0 0 0 0 1
GNB5 0 0 1 0 0 1
GOT2 0 0 1 0 0 1
GP1BA 0 1 0 0 0 1
GPC3 0 0 1 0 0 1
GPIHBP1 0 1 0 0 0 1
GPR143 0 0 1 0 0 1
GRHPR 0 1 0 0 0 1
GRIA3 0 0 1 0 0 1
GRIN1 0 0 1 0 0 1
GRM6, ZNF454 0 1 0 0 0 1
GRN 0 0 1 0 0 1
GRN, LOC125177489 1 0 0 0 0 1
GUCA1A, GUCA1ANB-GUCA1A 0 1 0 0 0 1
HADHB 0 0 1 0 0 1
HARS1 0 1 0 0 0 1
HBA-LCR, NPRL3 0 1 0 0 0 1
HBB, LOC106099062, LOC107133510, LOC110006319 1 0 0 0 0 1
HBB, LOC107133510, LOC110006319 1 0 0 0 0 1
HCN1 1 0 0 0 0 1
HCN4 0 0 1 0 0 1
HESX1 0 0 1 0 0 1
HEXB 0 1 0 0 0 1
HFE 1 0 0 0 0 1
HINT1 1 0 0 0 0 1
HIVEP2 1 0 0 0 0 1
HJV 0 0 1 0 0 1
HMBS 0 1 0 0 0 1
HNF1B 0 0 1 0 0 1
HNRNPK 0 1 0 0 0 1
HOXB13 0 1 0 0 0 1
HRAS, LRRC56 1 0 0 0 0 1
HSALR1, PIEZO1 0 0 1 0 0 1
HSD3B2 0 0 1 0 0 1
HSF4 1 0 0 0 0 1
HSPB8 0 1 0 0 0 1
IDS 0 1 0 0 0 1
IGF1R 0 0 1 0 0 1
IGF2, INS-IGF2 1 0 0 0 0 1
IGSF1 0 0 1 0 0 1
IL36RN 0 0 1 0 0 1
IMPG1 0 0 1 0 0 1
INPPL1 1 0 0 0 0 1
INS 0 1 0 0 0 1
INS, INS-IGF2 0 1 0 0 0 1
INSR 0 0 1 0 0 1
IRF2BPL 0 1 0 0 0 1
ITGA2B 0 0 1 0 0 1
ITGB6 0 0 0 0 1 1
KBTBD13 0 1 0 0 0 1
KCNC3 1 0 0 0 0 1
KCNJ2 1 0 0 0 0 1
KCNK3 0 0 1 0 0 1
KCNN4 1 0 0 0 0 1
KCNQ4 0 0 1 0 0 1
KCNT1 0 1 0 0 0 1
KDM6A 0 1 0 0 0 1
KIAA0586 1 0 0 0 0 1
KIAA1549 0 1 0 0 0 1
KIDINS220 0 0 1 0 0 1
KIT 0 0 1 0 0 1
KMT2A, TTC36 0 0 1 0 0 1
KMT5B 0 0 1 0 0 1
KRT17 1 0 0 0 0 1
L1CAM 0 1 0 0 0 1
LAMA3 0 1 0 0 0 1
LEPR 0 0 1 0 0 1
LGI1 0 0 1 0 0 1
LINS1 0 0 1 0 0 1
LITAF 1 0 0 0 0 1
LMX1B 1 0 0 0 0 1
LOC101928335, MID2 0 0 1 0 0 1
LOC105369889, POC1B 0 1 0 0 0 1
LOC106780803, TNXB 0 0 1 0 0 1
LOC107303340, VHL 0 1 0 0 0 1
LOC110121269, SCN5A 1 0 0 0 0 1
LOC110806306, TERC 0 0 1 0 0 1
LOC121627832, TCF4 0 1 0 0 0 1
LOC126806253, STAMBP 0 0 1 0 0 1
LOC126806913, OPA1 0 1 0 0 0 1
LOC126861339, SDHD 1 0 0 0 0 1
LOC126861443, MFAP5 1 0 0 0 0 1
LOC126861615, PAH 1 0 0 0 0 1
LOC129391106, RYR1 0 0 1 0 0 1
LOC129929200, TP73 0 0 1 0 0 1
LOC129931299, WARS2 0 0 1 0 0 1
LOC129934333, TMEM127 0 0 1 0 0 1
LOC129935182, TTN 0 1 0 0 0 1
LOC129935594, PNKD 0 1 0 0 0 1
LOC129992813, PKD2 1 0 0 0 0 1
LOC130007872, SMARCD1 0 0 1 0 0 1
LOC130008356, POC1B, POC1B-GALNT4 0 1 0 0 0 1
LOC130008987, ORAI1 1 0 0 0 0 1
LOC130009266, POLE 0 0 1 0 0 1
LOC130059156, TK2 0 0 1 0 0 1
LOC130061370, TLK2 0 0 1 0 0 1
LOC130062084, SMCHD1 0 1 0 0 0 1
LOC130062899, STK11 0 0 1 0 0 1
LOC130064467, SPTBN4 0 1 0 0 0 1
LOC130067016, LZTR1 0 1 0 0 0 1
LRP5 0 0 1 0 0 1
LRTOMT, TOMT 1 0 0 0 0 1
MACF1 0 0 1 0 0 1
MADD 0 1 0 0 0 1
MANBA 0 0 1 0 0 1
MAP2K1 1 0 0 0 0 1
MAPK8IP3 0 0 1 0 0 1
MCM8 0 0 1 0 0 1
MCM9 0 1 0 0 0 1
MED12L 0 0 1 0 0 1
MED12L, P2RY12 0 0 1 0 0 1
MEGF10 0 1 0 0 0 1
MEGF8 0 0 1 0 0 1
MEIS2 0 1 0 0 0 1
MERTK 1 0 0 0 0 1
MET 0 0 1 0 0 1
MKKS 1 0 0 0 0 1
MMAB 0 1 0 0 0 1
MMAB, MVK 0 0 1 0 0 1
MOCS2 0 1 0 0 0 1
MORC2 0 0 1 0 0 1
MPZ, SDHC 0 0 1 0 0 1
MPZL2 1 0 0 0 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 1
MT-CO2 0 1 0 0 0 1
MT-ND1 0 0 1 0 0 1
MT-ND6 1 0 0 0 0 1
MT-TE 1 0 0 0 0 1
MT-TS1 0 1 0 0 0 1
MYH14 0 0 1 0 0 1
MYH2, MYHAS 0 0 1 0 0 1
NAA15 0 1 0 0 0 1
NBEA 0 0 1 0 0 1
NDNF 0 1 0 0 0 1
NDST1 0 1 0 0 0 1
NDUFA9 0 0 1 0 0 1
NDUFS6 0 1 0 0 0 1
NDUFS8 0 0 1 0 0 1
NEK1 0 1 0 0 0 1
NEXMIF 0 1 0 0 0 1
NFIA 0 0 1 0 0 1
NFIX 0 0 1 0 0 1
NFKB2 0 1 0 0 0 1
NKIRAS1, RPL15 1 0 0 0 0 1
NKX2-5 0 0 1 0 0 1
NLGN4X 0 0 1 0 0 1
NOBOX 0 0 1 0 0 1
NPHP1 1 0 0 0 0 1
NPRL3 0 0 1 0 0 1
NR0B1 0 1 0 0 0 1
NR3C2 0 1 0 0 0 1
NR5A1 0 1 0 0 0 1
NT5C2 0 1 0 0 0 1
NTRK1 0 1 0 0 0 1
OFD1 1 0 0 0 0 1
OGT 0 0 1 0 0 1
OPA3 0 0 1 0 0 1
OPHN1 0 0 1 0 0 1
OTOG 1 0 0 0 0 1
PACS2 0 0 1 0 0 1
PAK1 0 1 0 0 0 1
PAX2 0 1 0 0 0 1
PAX8 1 0 0 0 0 1
PDHX 0 1 0 0 0 1
PDK3 0 0 1 0 0 1
PGK1 0 0 1 0 0 1
PHEX 1 0 0 0 0 1
PHF6 0 0 1 0 0 1
PHKA2 0 0 1 0 0 1
PHKB 0 0 1 0 0 1
PIEZO1 0 0 1 0 0 1
PIGN 0 0 1 0 0 1
PIK3R2 0 0 1 0 0 1
PITX2 0 1 0 0 0 1
PLEKHG5 0 1 0 0 0 1
PLP1, RAB9B 1 0 0 0 0 1
PLXND1 0 0 1 0 0 1
PMP2 0 1 0 0 0 1
PMP22 0 1 0 0 0 1
PNPLA2 0 0 1 0 0 1
POLR2A 0 0 1 0 0 1
POLR2F, SOX10 0 0 1 0 0 1
POMGNT1, TSPAN1 1 0 0 0 0 1
POT1 0 0 1 0 0 1
POU3F4 1 0 0 0 0 1
PPP2CA 0 1 0 0 0 1
PPP2R5D 0 1 0 0 0 1
PPP3CA 1 0 0 0 0 1
PRDM16 0 1 0 0 0 1
PREPL 0 1 0 0 0 1
PRKAG2 0 0 1 0 0 1
PRKCG 0 1 0 0 0 1
PRKN 0 0 1 0 0 1
PROS1 1 0 0 0 0 1
PRX 1 0 0 0 0 1
PSTPIP1 0 0 1 0 0 1
PTH1R 0 1 0 0 0 1
PUF60 0 1 0 0 0 1
PUM1 0 0 1 0 0 1
QRICH1 1 0 0 0 0 1
RAB3GAP1 0 1 0 0 0 1
RAG1 0 1 0 0 0 1
RAI1 1 0 0 0 0 1
RALGAPA1 0 0 1 0 0 1
RAPSN 1 0 0 0 0 1
RARS2 0 1 0 0 0 1
RHO 0 1 0 0 0 1
RHOBTB2 0 1 0 0 0 1
RORB 0 1 0 0 0 1
RPGRIP1 1 0 0 0 0 1
RRM2B 0 0 1 0 0 1
RUNX1 0 0 1 0 0 1
SATB2 0 1 0 0 0 1
SCN11A 0 0 1 0 0 1
SCN1A, SCN9A 0 0 1 0 0 1
SEC23B 1 0 0 0 0 1
SERPINC1 1 0 0 0 0 1
SERPINF1 0 1 0 0 0 1
SETD1A 0 1 0 0 0 1
SGSH, SLC26A11 1 0 0 0 0 1
SHH 0 0 1 0 0 1
SHOC2 0 0 1 0 0 1
SHOX 0 0 1 0 0 1
SHROOM4 0 0 1 0 0 1
SIL1 1 0 0 0 0 1
SIX1 0 1 0 0 0 1
SLC12A2 0 0 1 0 0 1
SLC12A5 0 0 1 0 0 1
SLC1A3 0 0 1 0 0 1
SLC20A2 0 0 1 0 0 1
SLC25A1 1 0 0 0 0 1
SLC25A32 0 1 0 0 0 1
SLC26A8 0 0 1 0 0 1
SLC2A1, SLC2A1-DT 1 0 0 0 0 1
SLC38A8 0 0 1 0