ClinVar Miner

Variants from Department of Pathology and Laboratory Medicine, Sinai Health System

Location: Canada  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 established risk allele likely risk allele total
1305 210 4421 1513 754 10 1 8208

Gene and significance breakdown #

Total genes and gene combinations: 1512
Download table as spreadsheet
Gene or gene combination pathogenic likely pathogenic uncertain significance likely benign benign established risk allele likely risk allele total
BRCA2 236 24 332 208 132 0 0 932
PKD1 118 17 177 173 117 0 0 602
BRCA1 162 14 204 113 63 0 0 555
APC 151 3 128 53 32 1 0 367
MSH6 93 11 153 63 21 0 0 340
MSH2 115 11 122 45 17 0 0 310
MLH1 89 18 110 32 16 0 0 264
ATM 14 5 108 67 27 0 0 221
PMS2 41 9 69 47 32 0 0 198
PALB2 23 4 59 41 10 0 0 137
CDH1 4 2 50 41 11 0 0 108
CHEK2 12 7 70 14 3 1 0 106
ATM, C11orf65 10 2 54 29 8 0 0 103
POLE 4 0 38 30 20 0 0 92
BRCA1, LOC126862571 29 1 36 9 10 0 0 85
BARD1 5 0 50 22 5 0 0 82
BRIP1 6 1 48 19 5 0 0 79
PKHD1 9 4 20 16 30 0 0 79
MUTYH 26 3 30 10 6 0 0 75
PKD2 41 2 14 8 7 0 0 72
POLD1 1 0 20 25 17 0 0 63
NBN 2 2 29 22 6 0 0 61
STK11 1 1 17 38 4 0 0 61
TP53 5 2 19 12 4 0 0 42
AOPEP, FANCC 1 3 20 10 6 0 0 40
RAD51D, RAD51L3-RFFL 3 3 21 11 1 0 0 39
FAT1 0 0 19 11 2 0 0 32
TTN 0 0 29 1 1 0 0 31
RAD51C 6 1 11 3 5 0 0 26
KRAS 12 1 8 1 0 0 0 22
PTEN 3 1 7 8 3 0 0 22
POLQ 0 0 12 4 4 0 0 20
BMPR1A 0 2 6 5 6 0 0 19
RYR1 0 0 18 0 0 0 0 18
FANCC 3 0 8 3 3 0 0 17
LOC129992813, PKD2 4 0 5 4 3 0 0 16
VWF 1 1 13 0 0 0 0 15
PLEC 0 0 12 2 0 0 0 14
APOB 0 0 12 1 0 0 0 13
PDGFRA 0 0 10 1 2 0 0 13
SMAD4 2 0 5 6 0 0 0 13
MLH3 0 0 3 6 3 0 0 12
BIVM-ERCC5, ERCC5 0 1 7 3 0 0 0 11
COL7A1 0 0 11 0 0 0 0 11
PTPN13 0 0 7 4 0 0 0 11
ALK 0 0 6 3 1 0 0 10
ATP7B 0 0 10 0 0 0 0 10
ERCC4 0 0 9 1 0 0 0 10
EYS 0 0 8 2 0 0 0 10
HSPG2 0 0 8 2 0 0 0 10
LRP2 0 0 8 1 1 0 0 10
MEFV 0 0 10 0 0 0 0 10
PTCH2 0 0 7 2 1 0 0 10
RP1L1 0 0 8 1 1 0 0 10
SYNE1 0 1 8 1 0 0 0 10
VPS13B 1 0 9 0 0 0 0 10
BRAF 0 0 9 0 0 0 0 9
CDH23 0 0 9 0 0 0 0 9
FRAS1 0 0 9 0 0 0 0 9
GAA 1 0 8 0 0 0 0 9
LOC130062899, STK11 0 0 3 5 1 0 0 9
MUC5B 0 0 8 1 0 0 0 9
ABCA4 2 0 4 1 1 0 0 8
ANKRD26 0 0 4 4 0 0 0 8
F5 1 0 6 0 0 1 0 8
LAMA2 0 0 7 1 0 0 0 8
LYST 0 0 7 1 0 0 0 8
MYH7 0 0 8 0 0 0 0 8
MYO15A 0 0 8 0 0 0 0 8
NEB 0 0 8 0 0 0 0 8
NPHP4 0 0 7 0 1 0 0 8
RECQL4 0 0 7 1 0 0 0 8
SACS 0 0 7 0 1 0 0 8
TSHR 0 0 6 1 1 0 0 8
ABCD1 2 0 4 1 0 0 0 7
ADGRV1 0 0 5 2 0 0 0 7
BRCA1, LOC111589215 0 0 4 1 2 0 0 7
CFTR 2 1 4 0 0 0 0 7
DNAH5 0 0 6 1 0 0 0 7
FAT2, SLC36A1 0 0 5 2 0 0 0 7
FLG 0 1 4 2 0 0 0 7
FREM1 0 0 7 0 0 0 0 7
FSIP2 0 0 7 0 0 0 0 7
MYH14 0 0 7 0 0 0 0 7
NOTCH3 0 0 7 0 0 0 0 7
PALLD 0 0 2 2 3 0 0 7
RNF213 0 0 4 3 0 0 0 7
SDHA 0 0 5 2 0 0 0 7
SYNE2 0 0 4 1 2 0 0 7
TNXB 0 0 7 0 0 0 0 7
USH2A 0 1 6 0 0 0 0 7
ABCC6 0 0 4 2 0 0 0 6
APOBEC3B 0 0 2 4 0 0 0 6
CC2D2A 2 0 4 0 0 0 0 6
CCDST, FLG 2 0 2 2 0 0 0 6
DYNC2H1 0 0 6 0 0 0 0 6
EPCAM 3 0 2 1 0 0 0 6
FANCM 0 0 4 0 2 0 0 6
FREM2 0 0 5 1 0 0 0 6
GLI2 0 0 4 1 1 0 0 6
GOLGA6L2 0 0 6 0 0 0 0 6
KDR 0 0 4 2 0 0 0 6
KIF1B 0 0 2 4 0 0 0 6
LAMA3 0 0 5 1 0 0 0 6
MC1R 0 0 2 4 0 0 0 6
MYH6 0 0 6 0 0 0 0 6
MYO5A 0 0 5 1 0 0 0 6
PCDH15 1 0 5 0 0 0 0 6
PIEZO1 0 0 6 0 0 0 0 6
PTCH1 0 0 4 1 1 0 0 6
SETBP1 0 0 4 1 1 0 0 6
TBCEL-TECTA, TECTA 0 0 6 0 0 0 0 6
TSC2 0 0 5 1 0 0 0 6
WRN 0 1 3 2 0 0 0 6
ABCA12 0 0 4 1 0 0 0 5
AHDC1 0 0 2 2 1 0 0 5
ANKRD11 0 0 4 1 0 0 0 5
ATXN3, LOC108663987 0 0 2 3 0 0 0 5
AXIN2 0 0 4 1 0 0 0 5
CCDC40 0 0 4 1 0 0 0 5
CEP290 1 0 4 0 0 0 0 5
CHD7 0 0 4 1 0 0 0 5
COL5A2 0 0 5 0 0 0 0 5
COL9A3 0 0 5 0 0 0 0 5
CTNNA1 0 0 4 1 0 0 0 5
EVC2 0 0 5 0 0 0 0 5
FBXO7 0 0 5 0 0 0 0 5
FN1 0 0 4 1 0 0 0 5
GALT 0 0 5 0 0 0 0 5
HMCN1 0 0 5 0 0 0 0 5
ITGAM 0 0 5 0 0 0 0 5
KIT 0 0 4 1 0 0 0 5
LRRK2 0 0 3 2 0 0 0 5
MAGEL2 0 0 4 1 0 0 0 5
MPL 1 0 3 1 0 0 0 5
NOTCH1 0 0 5 0 0 0 0 5
OBSL1 1 0 4 0 0 0 0 5
OTOF 0 0 5 0 0 0 0 5
PMS1 0 0 3 2 0 0 0 5
RELN 0 0 3 1 1 0 0 5
SAMD9L 0 0 3 1 1 0 0 5
SLC3A1 2 0 3 0 0 0 0 5
TGM1 0 2 3 0 0 0 0 5
TRIOBP 0 1 3 1 0 0 0 5
ABCC11 0 0 4 0 0 0 0 4
ACAN 0 0 4 0 0 0 0 4
ACE 0 0 4 0 0 0 0 4
ADAMTS13 0 1 3 0 0 0 0 4
AMPD1 0 1 3 0 0 0 0 4
AR 0 0 2 2 0 0 0 4
BTD 1 0 3 0 0 0 0 4
CACNA1D 0 0 3 1 0 0 0 4
CHD4 0 0 2 2 0 0 0 4
CHRNG 0 0 3 0 1 0 0 4
COL6A3 0 0 4 0 0 0 0 4
DCHS1 0 1 3 0 0 0 0 4
DHFR, MSH3 0 0 2 2 0 0 0 4
DICER1 0 0 4 0 0 0 0 4
DIS3L2 0 0 3 1 0 0 0 4
DMD 0 0 4 0 0 0 0 4
DMP1 0 0 2 2 0 0 0 4
DNAH9 0 0 4 0 0 0 0 4
DOK7 0 0 4 0 0 0 0 4
EGFR 0 0 2 1 1 0 0 4
EP300 0 0 2 2 0 0 0 4
ERCC6 0 0 4 0 0 0 0 4
FPGT-TNNI3K, TNNI3K 0 0 4 0 0 0 0 4
HEXA 0 0 3 0 1 0 0 4
HIVEP2 0 0 1 2 1 0 0 4
HPS4 0 0 3 1 0 0 0 4
IDUA, SLC26A1 1 0 1 1 1 0 0 4
IGF1R 0 0 4 0 0 0 0 4
KCNH2 0 0 2 2 0 0 0 4
KMT2D 0 0 1 1 2 0 0 4
KNL1 0 0 2 2 0 0 0 4
LAMB3 0 0 2 1 1 0 0 4
LDLR 0 0 4 0 0 0 0 4
LOC126859690, PKHD1 0 1 1 1 1 0 0 4
LOC126862264, MEFV 2 0 2 0 0 0 0 4
LOC129390903, RAD51C 1 0 3 0 0 0 0 4
LOXHD1 0 0 4 0 0 0 0 4
MAML2 0 0 4 0 0 0 0 4
MOCS1 0 0 2 0 2 0 0 4
NPC1 0 1 3 0 0 0 0 4
NTHL1 1 0 2 1 0 0 0 4
PAH 2 1 1 0 0 0 0 4
PCNT 0 1 3 0 0 0 0 4
PIEZO2 0 0 3 1 0 0 0 4
PLCE1 0 0 3 1 0 0 0 4
PRF1 0 0 3 1 0 0 0 4
PROC 0 0 3 0 0 1 0 4
PRX 1 1 2 0 0 0 0 4
PVALB 0 0 4 0 0 0 0 4
RECQL 0 1 1 2 0 0 0 4
REST 0 0 3 0 1 0 0 4
RINT1 0 0 2 1 1 0 0 4
SDHB 0 0 3 1 0 0 0 4
SERPINA1 2 1 1 0 0 0 0 4
SETX 0 0 4 0 0 0 0 4
SMARCA4 0 0 4 0 0 0 0 4
SPTA1 0 0 4 0 0 0 0 4
SPTBN2 0 0 3 0 1 0 0 4
TCF20 0 0 4 0 0 0 0 4
TCIRG1 0 0 4 0 0 0 0 4
TNFRSF13B 0 0 2 0 0 2 0 4
TRIO 0 0 4 0 0 0 0 4
VCAN 0 0 2 1 1 0 0 4
​intergenic 0 0 3 0 0 0 0 3
ACD 0 0 3 0 0 0 0 3
AGT 0 0 1 1 1 0 0 3
AIP 0 0 1 2 0 0 0 3
AIPL1 0 0 2 1 0 0 0 3
ALPL 0 1 1 1 0 0 0 3
ASXL3 0 0 2 0 1 0 0 3
ATN1, LOC109461484 0 0 0 3 0 0 0 3
ATR 0 0 3 0 0 0 0 3
ATRX 0 0 1 1 1 0 0 3
BBS12 0 0 3 0 0 0 0 3
BBS9 0 0 3 0 0 0 0 3
BCL2L1 0 0 3 0 0 0 0 3
BEAN1 0 0 3 0 0 0 0 3
CACNA1H 0 0 3 0 0 0 0 3
CACNB2 0 0 3 0 0 0 0 3
CDH10 0 0 3 0 0 0 0 3
CDKN1B 0 0 2 1 0 0 0 3
CFTR, LOC111674472 1 0 2 0 0 0 0 3
CHRND 0 0 3 0 0 0 0 3
CILP 0 0 3 0 0 0 0 3
CNGA3 0 0 2 1 0 0 0 3
COL12A1 0 0 2 0 1 0 0 3
COL4A1 0 0 3 0 0 0 0 3
COL4A4 0 0 3 0 0 0 0 3
COL6A2 0 0 3 0 0 0 0 3
CTBP2 0 0 3 0 0 0 0 3
DCC 0 0 3 0 0 0 0 3
DDB2 0 0 2 1 0 0 0 3
DNMT1 0 0 3 0 0 0 0 3
DSP 0 0 3 0 0 0 0 3
DVL1 0 0 3 0 0 0 0 3
DYNC1H1 0 0 2 1 0 0 0 3
EGF 0 0 3 0 0 0 0 3
EPAS1 0 0 3 0 0 0 0 3
EPM2A 0 0 2 1 0 0 0 3
ETV6 0 0 3 0 0 0 0 3
FANCA 0 0 2 0 1 0 0 3
FANCD2, LOC107303338 0 0 2 0 1 0 0 3
FAT1, LOC126807254 0 0 1 2 0 0 0 3
FBN1 0 0 3 0 0 0 0 3
FBN2 0 0 3 0 0 0 0 3
FGG 0 0 3 0 0 0 0 3
FLNB 0 0 3 0 0 0 0 3
FLNC 0 0 3 0 0 0 0 3
GALC 0 1 1 1 0 0 0 3
GANAB 0 0 3 0 0 0 0 3
GATA4 0 0 0 0 3 0 0 3
GBE1 0 0 2 1 0 0 0 3
GHSR 0 0 3 0 0 0 0 3
GLB1 0 0 3 0 0 0 0 3
HFE 2 0 1 0 0 0 0 3
HLCS 0 0 3 0 0 0 0 3
HYCC1 0 0 2 0 1 0 0 3
HYDIN 0 0 3 0 0 0 0 3
INSR 0 0 3 0 0 0 0 3
ITGB4 0 0 3 0 0 0 0 3
KALRN 0 0 3 0 0 0 0 3
KCNQ1 0 0 3 0 0 0 0 3
KCNQ4 0 0 3 0 0 0 0 3
KMT2B 0 0 3 0 0 0 0 3
KMT2C 0 0 0 1 2 0 0 3
KRT4 0 0 1 1 1 0 0 3
LOC126806432, TTN 0 0 3 0 0 0 0 3
LOC126860438, NBN 0 0 1 1 1 0 0 3
LOC129933707, MSH6 0 0 3 0 0 0 0 3
LOC130009266, POLE 0 0 2 0 1 0 0 3
LOC130058212, PKD1 0 0 0 3 0 0 0 3
LRP5 0 0 3 0 0 0 0 3
LRPPRC 0 0 3 0 0 0 0 3
LZTR1 0 0 3 0 0 0 0 3
MACF1 0 0 2 1 0 0 0 3
MAPT 0 0 2 1 0 0 0 3
MERTK 0 0 3 0 0 0 0 3
MITF 0 0 3 0 0 0 0 3
MSH3 0 0 3 0 0 0 0 3
MST1R 0 0 3 0 0 0 0 3
MVD 0 0 2 1 0 0 0 3
MYO9A 0 0 2 1 0 0 0 3
MYPN 0 0 3 0 0 0 0 3
NDUFB3 0 1 2 0 0 0 0 3
NEB, RIF1 0 0 3 0 0 0 0 3
NEXN 0 0 3 0 0 0 0 3
NPHS1 0 0 3 0 0 0 0 3
NPHS2 0 0 2 0 1 0 0 3
NUP133 0 0 3 0 0 0 0 3
OCA2 1 0 2 0 0 0 0 3
OTOGL 0 0 1 1 1 0 0 3
PANK2 1 0 2 0 0 0 0 3
PDE11A 0 0 3 0 0 0 0 3
PKLR 1 0 2 0 0 0 0 3
PLA2G6 0 0 3 0 0 0 0 3
PLCD1 0 0 3 0 0 0 0 3
PLEKHG5 0 0 3 0 0 0 0 3
PLG 0 1 2 0 0 0 0 3
POLR1A 0 0 3 0 0 0 0 3
PPP1R3A 0 0 3 0 0 0 0 3
PREPL 0 0 2 1 0 0 0 3
PTPRQ 0 0 3 0 0 0 0 3
PYGM 1 0 2 0 0 0 0 3
RAI1 0 0 1 1 1 0 0 3
RARS2 0 0 2 0 1 0 0 3
RHO 0 0 3 0 0 0 0 3
RIMS1 0 0 3 0 0 0 0 3
SCN11A 0 0 3 0 0 0 0 3
SCN1A 0 0 3 0 0 0 0 3
SIL1 0 0 3 0 0 0 0 3
SLC26A4 1 0 2 0 0 0 0 3
SLC4A1 0 0 2 1 0 0 0 3
SLC6A20 0 0 3 0 0 0 0 3
SPTAN1 0 0 3 0 0 0 0 3
SQSTM1 0 1 2 0 0 0 0 3
TENM4 0 0 3 0 0 0 0 3
TLR1 0 0 3 0 0 0 0 3
TLR2 0 0 3 0 0 0 0 3
TMEM67 0 0 3 0 0 0 0 3
TRPM7 0 0 3 0 0 0 0 3
TYR 2 0 0 0 1 0 0 3
UROS 0 0 3 0 0 0 0 3
VPS13A 0 0 1 2 0 0 0 3
XPC 0 0 3 0 0 0 0 3
ZNF423 0 0 3 0 0 0 0 3
AARS2, POLR1C 0 0 2 0 0 0 0 2
ABCA7 0 0 2 0 0 0 0 2
ABCB11 0 0 2 0 0 0 0 2
ABCB4 0 0 2 0 0 0 0 2
ABCC2 0 0 2 0 0 0 0 2
ACO2 0 0 2 0 0 0 0 2
ADAM10 0 0 2 0 0 0 0 2
ADAMTS2 0 0 2 0 0 0 0 2
ADRB3 0 0 2 0 0 0 0 2
AFG2A 0 0 2 0 0 0 0 2
AHNAK 0 0 2 0 0 0 0 2
AKAP9 0 0 2 0 0 0 0 2
ALDH5A1 0 1 1 0 0 0 0 2
ALMS1 0 0 2 0 0 0 0 2
ANKRD26, LOC130003554 0 0 1 1 0 0 0 2
AP1B1 0 0 2 0 0 0 0 2
APOE 0 0 1 0 0 1 0 2
APOL1 0 0 1 0 0 1 0 2
APP 0 0 2 0 0 0 0 2
AR, LOC109504725 0 0 0 2 0 0 0 2
ARHGAP31 0 0 1 0 1 0 0 2
ARHGEF10 0 0 2 0 0 0 0 2
ARMC2 0 0 2 0 0 0 0 2
ARSL 0 0 1 1 0 0 0 2
ATP8B1 1 0 0 1 0 0 0 2
ATXN1, LOC108663993 0 0 1 1 0 0 0 2
BACH2 0 0 2 0 0 0 0 2
BAP1 0 0 2 0 0 0 0 2
BBS4 0 0 2 0 0 0 0 2
BCOR 0 0 1 0 1 0 0 2
BDP1 0 0 2 0 0 0 0 2
BLM 0 0 2 0 0 0 0 2
BMPR2 0 0 2 0 0 0 0 2
BUB1B 0 0 2 0 0 0 0 2
C17orf107, CHRNE 0 0 2 0 0 0 0 2
C2CD3 0 0 2 0 0 0 0 2
CACNA1B 0 0 2 0 0 0 0 2
CACNA1C 0 0 2 0 0 0 0 2
CACNA1E 0 0 1 0 1 0 0 2
CACNA1S 0 0 2 0 0 0 0 2
CAPN3 0 0 2 0 0 0 0 2
CARD11 0 0 2 0 0 0 0 2
CARD14 0 0 2 0 0 0 0 2
CASP1 0 0 2 0 0 0 0 2
CASR 0 0 2 0 0 0 0 2
CBS 0 0 2 0 0 0 0 2
CCDC78 0 0 1 1 0 0 0 2
CCDC88C 0 0 2 0 0 0 0 2
CDC45 0 0 2 0 0 0 0 2
CDH15 0 0 2 0 0 0 0 2
CDK5RAP2 0 0 2 0 0 0 0 2
CDKN1C 0 0 1 1 0 0 0 2
CDKN2A 0 0 2 0 0 0 0 2
CDSN, PSORS1C1 0 0 2 0 0 0 0 2
CENPF 0 2 0 0 0 0 0 2
CFAP251 0 0 2 0 0 0 0 2
CFAP65 0 0 2 0 0 0 0 2
CHD8 0 1 1 0 0 0 0 2
CLN6 0 0 1 1 0 0 0 2
COL17A1 0 0 2 0 0 0 0 2
COL5A1 0 0 2 0 0 0 0 2
COL9A1 0 0 2 0 0 0 0 2
COMP 0 0 2 0 0 0 0 2
CPA6 0 0 2 0 0 0 0 2
CREBBP 0 0 2 0 0 0 0 2
CRTAP 0 0 2 0 0 0 0 2
CSF1R 0 0 1 1 0 0 0 2
CTNND1, TMX2-CTNND1 0 0 2 0 0 0 0 2
CTNS 0 0 2 0 0 0 0 2
CTSC 0 0 2 0 0 0 0 2
CYP21A2, LOC106780800 1 0 1 0 0 0 0 2
DHDDS 0 1 1 0 0 0 0 2
DNAH11 0 1 1 0 0 0 0 2
DNMBP 0 0 2 0 0 0 0 2
DNMT3B 0 0 2 0 0 0 0 2
DPP6 0 0 2 0 0 0 0 2
DSC3 0 0 2 0 0 0 0 2
DST 0 0 1 0 1 0 0 2
EFCAB10, RINT1 0 0 1 0 1 0 0 2
ELN 0 0 2 0 0 0 0 2
ERBB4 0 0 2 0 0 0 0 2
ERCC2 0 0 2 0 0 0 0 2
ERCC8 0 0 2 0 0 0 0 2
ESPN 0 0 2 0 0 0 0 2
ESR1 0 0 2 0 0 0 0 2
ETFDH 0 0 2 0 0 0 0 2
EXT1 0 0 1 1 0 0 0 2
EXT2 0 0 1 1 0 0 0 2
F11 1 0 1 0 0 0 0 2
F8 0 0 2 0 0 0 0 2
FAM111A 0 0 0 0 2 0 0 2
FANCD2, FANCD2OS 0 0 1 0 1 0 0 2
FASTKD2 0 0 1 1 0 0 0 2
FGFR1 0 0 2 0 0 0 0 2
FIS1 0 0 2 0 0 0 0 2
FLCN 0 0 2 0 0 0 0 2
FOXN1 0 0 1 1 0 0 0 2
FSCN2 0 0 2 0 0 0 0 2
G6PD 0 0 1 1 0 0 0 2
GATAD1, PEX1 0 0 2 0 0 0 0 2
GDF6 0 0 2 0 0 0 0 2
GFM1 0 0 2 0 0 0 0 2
GJA8 0 0 2 0 0 0 0 2
GJB3 0 0 2 0 0 0 0 2
GLCCI1 0 0 2 0 0 0 0 2
GNAS 0 0 2 0 0 0 0 2
GP1BB, SEPT5-GP1BB 0 0 2 0 0 0 0 2
GPD2 0 0 2 0 0 0 0 2
GREB1L 0 0 2 0 0 0 0 2
GREB1L, LOC101927521 0 0 2 0 0 0 0 2
GRHPR 0 0 2 0 0 0 0 2
GUCY2D 0 0 2 0 0 0 0 2
HDAC6 0 0 1 1 0 0 0 2
HEXB 0 2 0 0 0 0 0 2
HGF 0 0 2 0 0 0 0 2
HGSNAT 0 0 1 1 0 0 0 2
HK1 0 0 2 0 0 0 0 2
HLA-A 0 0 2 0 0 0 0 2
HLA-DRB1 0 0 2 0 0 0 0 2
HMBS 0 0 2 0 0 0 0 2
HNF1A 0 0 2 0 0 0 0 2
HOMER2 0 0 2 0 0 0 0 2
HPS3 0 0 2 0 0 0 0 2
HPS5 0 0 1 1 0 0 0 2
HSALR1, PIEZO1 0 0 2 0 0 0 0 2
IFIH1 0 0 0 0 2 0 0 2
IFT80, TRIM59-IFT80 0 0 2 0 0 0 0 2
IL10 0 0 2 0 0 0 0 2
ILDR1 0 0 2 0 0 0 0 2
IMPG2 0 0 2 0 0 0 0 2
INSL3 0 0 2 0 0 0 0 2
IRS2 0 0 2 0 0 0 0 2
JAK3 0 0 0 2 0 0 0 2
JPH1 0 0 2 0 0 0 0 2
KANK1 0 0 2 0 0 0 0 2
KCNJ12 0 0 2 0 0 0 0 2
KCNQ3 0 0 2 0 0 0 0 2
KIF21A 0 0 2 0 0 0 0 2
KIF7 0 0 2 0 0 0 0 2
KL 0 0 2 0 0 0 0 2
KLHL40 0 0 1 1 0 0 0 2
KRT10 0 0 2 0 0 0 0 2
KRT13 0 0 0 1 1 0 0 2
KRT74 0 0 2 0 0 0 0 2
KRT8 0 0 1 1 0 0 0 2
KRT9 0 0 2 0 0 0 0 2
L1CAM 0 0 1 1 0 0 0 2
LAMA4 0 0 2 0 0 0 0 2
LAMC2 0 0 2 0 0 0 0 2
LIPE 0 0 2 0 0 0 0 2
LOC102724058, SCN1A 0 0 1 1 0 0 0 2
LOC108663996, TBP 0 0 0 1 1 0 0 2
LOC126862902, RYR1 0 0 2 0 0 0 0 2
LOC129933707, LOC129933708, MSH6 2 0 0 0 0 0 0 2
LPP 0 0 2 0 0 0 0 2
LRSAM1 0 0 2 0 0 0 0 2
MAPK8IP1 0 0 2 0 0 0 0 2
MAPK8IP3 0 0 1 1 0 0 0 2
MCC 0 0 2 0 0 0 0 2
MECOM 0 0 1 1 0 0 0 2
MIR1225, PKD1 2 0 0 0 0 0 0 2
MIR6511B1, PKD1 0 0 2 0 0 0 0 2
MKKS 0 0 1 1 0 0 0 2
MKS1 0 0 2 0 0 0 0 2
MN1 0 0 2 0 0 0 0 2
MRE11 0 0 2 0 0 0 0 2
MSC, TRPA1 0 0 2 0 0 0 0 2
MSR1 0 0 2 0 0 0 0 2
MSTO1 0 0 2 0 0 0 0 2
MT1F 0 0 2 0 0 0 0 2
MTOR 0 0 1 1 0 0 0 2
MUC1 0 0 2 0 0 0 0 2
MUTYH, TOE1 0 0 1 1 0 0 0 2
MYBPC3 0 0 2 0 0 0 0 2
MYH8, MYHAS 0 0 2 0 0 0 0 2
MYL4 0 0 2 0 0 0 0 2
MYLK 0 0 2 0 0 0 0 2
MYO18B 0 0 2 0 0 0 0 2
MYO7A 0 0 2 0 0 0 0 2
MYO9B 0 0 2 0 0 0 0 2
NCAPG2 0 0 2 0 0 0 0 2
NDUFA10 0 0 1 0 1 0 0 2
NDUFAF7 0 0 2 0 0 0 0 2
NDUFS8 0 0 1 1 0 0 0 2
NF1 0 0 2 0 0 0 0 2
NHS 0 0 2 0 0 0 0 2
NLRP7 0 0 2 0 0 0 0 2
NOBOX 0 0 2 0 0 0 0 2
NOS3 0 0 2 0 0 0 0 2
NOTCH2 0 0 1 0 1 0 0 2
NPHP3, NPHP3-ACAD11 0 0 2 0 0 0 0 2
NPRL2 0 0 2 0 0 0 0 2
NR2E3 0 1 1 0 0 0 0 2
NUP214 0 0 2 0 0 0 0 2
OPLAH 0 0 2 0 0 0 0 2
ORC1 0 1 1 0 0 0 0 2
PCARE 0 1 1 0 0 0 0 2
PDE1C 0 0 2 0 0 0 0 2
PDE3A 0 0 2 0 0 0 0 2
PDE6A 0 0 1 1 0 0 0 2
PDYN 0 0 2 0 0 0 0 2
PEX1 0 0 2 0 0 0 0 2
PIK3C2A 0 0 2 0 0 0 0 2
PKP1 0 0 2 0 0 0 0 2
PMM2 2 0 0 0 0 0 0 2
POGZ 0 0 2 0 0 0 0 2
POLG, POLGARF 0 0 2 0 0 0 0 2
PON2 0 0 2 0 0 0 0 2
PPT1 0 0 2 0 0 0 0 2
PRDM16 0 0 2 0 0 0 0 2
PROKR2 0 0 2 0 0 0 0 2
PROS1 0 0 2 0 0 0 0 2
PRSS1, TRB 0 0 2 0 0 0 0 2
PSAP 0 0 2 0 0 0 0 2
PSEN2 0 0 2 0 0 0 0 2
PTH1R 0 0 1 0 1 0 0 2
PTPRC 0 0 2 0 0 0 0 2
RAD50 0 0 0 2 0 0 0 2
RB1 0 0 1 1 0 0 0 2
REEP2 0 0 2 0 0 0 0 2
RFWD3 0 0 1 0 1 0 0 2
RHAG 0 0 2 0 0 0 0 2
RIGI 0 0 2 0 0 0 0 2
ROBO2 0 0 2 0 0 0 0 2
RP1 0 0 1 1 0 0 0 2
RPGR 0 0 2 0 0 0 0 2
RPGRIP1L 0 0 2 0 0 0 0 2
RTEL1, RTEL1-TNFRSF6B 0 0 2 0 0 0 0 2
RYR2 0 0 2 0 0 0 0 2
SALL4 0 0 1 1 0 0 0 2
SAMD9 0 0 1 0 1 0 0 2
SCN3A 0 0 2 0 0 0 0 2
SCNN1A 0 1 1 0 0 0 0 2
SCNN1B 0 0 2 0 0 0 0 2
SCYL1 0 0 2 0 0 0 0 2
SEMA3A 0 0 2 0 0 0 0 2
SERAC1 0 0 2 0 0 0 0 2
SIAE 0 0 2 0 0 0 0 2
SLC11A1 0 0 2 0 0 0 0 2
SLC12A6 0 0 2 0 0 0 0 2
SLC25A13 0 0 2 0 0 0 0 2
SLC25A15 0 0 2 0 0 0 0 2
SLC6A19 0 0 2 0 0 0 0 2
SMCHD1 0 0 2 0 0 0 0 2
SMPD1 0 0 2 0 0 0 0 2
SON 0 0 1 1 0 0 0 2
SORL1 0 0 2 0 0 0 0 2
SPECC1L, SPECC1L-ADORA2A 0 0 2 0 0 0 0 2
SRGAP1 0 0 2 0 0 0 0 2
STAR 1 0 1 0 0 0 0 2
STIM1 0 0 2 0 0 0 0 2
STRC 0 0 1 0 1 0 0 2
STX16, STX16-NPEPL1 0 0 2 0 0 0 0 2
SURF1 0 0 1 1 0 0 0 2
TBX22 0 0 2 0 0 0 0 2
TBX3 0 0 2 0 0 0 0 2
TBX6 0 0 2 0 0 0 0 2
TCF7L2 0 0 2 0 0 0 0 2
TCTN2 0 0 2 0 0 0 0 2
TERT 0 0 1 1 0 0 0 2
TFR2 0 0 1 1 0 0 0 2
TFRC 0 0 2 0 0 0 0 2
TG 0 0 2 0 0 0 0 2
TGFBR2 0 0 1 0 1 0 0 2
TH 0 0 2 0 0 0 0 2
TLR10 0 0 2 0 0 0 0 2
TLR4 0 0 2 0 0 0 0 2
TMC1 0 0 2 0 0 0 0 2
TMEM126A 0 0 2 0 0 0 0 2
TMEM138 0 0 1 1 0 0 0 2
TMPRSS3 1 0 1 0 0 0 0 2
TMPRSS6 0 0 2 0 0 0 0 2
TNC 0 0 2 0 0 0 0 2
TNFRSF11A 0 0 2 0 0 0 0 2
TNFRSF1A 0 0 2 0 0 0 0 2
TNRC6A 0 0 2 0 0 0 0 2
TP63 0 0 1 1 0 0 0 2
TRAK1 0 0 2 0 0 0 0 2
TRIM37 0 0 1 1 0 0 0 2
TRPM4 0 0 2 0 0 0 0 2
TRRAP 0 0 1 1 0 0 0 2
TSHZ1 0 0 2 0 0 0 0 2
UBIAD1 0 0 2 0 0 0 0 2
UBR1 0 0 2 0 0 0 0 2
USH1C 0 0 1 0 1 0 0 2
USH1G 0 0 2 0 0 0 0 2
VANGL1 0 0 2 0 0 0 0 2
VHL 0 0 2 0 0 0 0 2
VSX1 0 0 2 0 0 0 0 2
WDR19 0 1 1 0 0 0 0 2
WDR4 0 0 2 0 0 0 0 2
WFS1 0 0 2 0 0 0 0 2
WNK1 0 0 2 0 0 0 0 2
WNK4 0 0 2 0 0 0 0 2
XPNPEP2 0 0 2 0 0 0 0 2
A2M, KLRG1 0 0 1 0 0 0 0 1
A4GALT 0 0 1 0 0 0 0 1
ABCA1 0 0 1 0 0 0 0 1
ABCA12, SNHG31 0 0 1 0 0 0 0 1
ABCA4, LOC126805793 0 0 1 0 0 0 0 1
ABCA4, LOC126805794 0 0 1 0 0 0 0 1
ABCA5 0 0 1 0 0 0 0 1
ABCB1 0 0 1 0 0 0 0 1
ABCC8 0 0 1 0 0 0 0 1
ABHD5, ANO10 0 0 1 0 0 0 0 1
ABRAXAS1, LOC129992784 0 0 1 0 0 0 0 1
ACACA 0 0 1 0 0 0 0 1
ACADM 1 0 0 0 0 0 0 1
ACADVL 1 0 0 0 0 0 0 1
ACBD6, LHX4 0 0 1 0 0 0 0 1
ACHE 0 0 1 0 0 0 0 1
ACOX1 0 0 1 0 0 0 0 1
ACSF3 0 0 1 0 0 0 0 1
ACSL6 0 0 1 0 0 0 0 1
ACTN2 0 0 1 0 0 0 0 1
ACTN3 0 0 1 0 0 0 0 1
ACTN4 0 0 1 0 0 0 0 1
ADA 0 0 1 0 0 0 0 1
ADAMTS3 0 0 1 0 0 0 0 1
ADAR 0 0 1 0 0 0 0 1
ADCY10, DCAF6 0 0 1 0 0 0 0 1
ADGRE2 0 0 1 0 0 0 0 1
ADGRL1 0 0 1 0 0 0 0 1
AFF4 0 0 1 0 0 0 0 1
AGL 0 0 1 0 0 0 0 1
AGPS, LOC129935172 0 0 1 0 0 0 0 1
AGRP, ATP6V0D1-DT 0 0 1 0 0 0 0 1
AGTR1 0 0 1 0 0 0 0 1
AGXT 0 0 0 1 0 0 0 1
AHI1 0 0 1 0 0 0 0 1
AIRE 0 0 1 0 0 0 0 1
AKAP10 0 0 1 0 0 0 0 1
ALAS2 0 0 0 1 0 0 0 1
ALDH18A1 0 0 1 0 0 0 0 1
ALDH1A3 0 0 1 0 0 0 0 1
ALDH2 0 0 1 0 0 0 0 1
ALDOB 1 0 0 0 0 0 0 1
ALG1 0 0 0 1 0 0 0 1
ALG1, EEF2KMT 0 0 1 0 0 0 0 1
ALG1, LOC130058383 0 0 1 0 0 0 0 1
ALG10B 0 0 1 0 0 0 0 1
ALG11, ATP7B 0 0 1 0 0 0 0 1
ALG13 0 0 1 0 0 0 0 1
ALG6 0 0 1 0 0 0 0 1
ALG8 1 0 0 0 0 0 0 1
ALMS1, LOC126806252 0 0 1 0 0 0 0 1
ALOX12B 0 0 0 1 0 0 0 1
ALS2 0 0 1 0 0 0 0 1
ALX4 0 0 1 0 0 0 0 1
AMT 0 0 1 0 0 0 0 1
ANAPC1 0 0 1 0 0 0 0 1
ANK2 0 0 1 0 0 0 0 1
ANLN 0 0 1 0 0 0 0 1
ANO3 0 0 1 0 0 0 0 1
ANO5 1 0 0 0 0 0 0 1
ANTXR1 0 0 1 0 0 0 0 1
APOA5 0 0 1 0 0 0 0 1
APOB, LOC106560211 0 0 1 0 0 0 0 1
APOBEC3B, LOC126863151 0 0 0 0 1 0 0 1
APPL1 0 0 1 0 0 0 0 1
AQP5 0 0 1 0 0 0 0 1
ARCN1 0 0 1 0 0 0 0 1
ARFGEF1-DT, CPA6 0 0 1 0 0 0 0 1
ARHGEF1 0 0 1 0 0 0 0 1
ARMS2 0 0 1 0 0 0 0 1
ARSA 0 0 1 0 0 0 0 1
ARSB, LOC129994126 0 0 1 0 0 0 0 1
ASB10 0 0 1 0 0 0 0 1
ASCL1, PAH 0 0 0 1 0 0 0 1
ASIC4, SPEG 0 0 1 0 0 0 0 1
ASPA, SPATA22 1 0 0 0 0 0 0 1
ASPM 0 0 1 0 0 0 0 1
ASPN, CENPP 0 0 1 0 0 0 0 1
ASXL1 0 0 1 0 0 0 0 1
ASXL2 0 0 1 0 0 0 0 1
ATIC 0 0 0 1 0 0 0 1
ATP12A, LOC130009399 0 0 1 0 0 0 0 1
ATP1A2 0 0 1 0 0 0 0 1
ATP2A2 0 0 1 0 0 0 0 1
ATXN1 0 0 0 1 0 0 0 1
ATXN2 0 0 0 1 0 0 0 1
ATXN3 0 0 1 0 0 0 0 1
AUH 0 0 0 1 0 0 0 1
BAG3 0 0 1 0 0 0 0 1
BBS1, ZDHHC24 0 0 1 0 0 0 0 1
BBS10 0 0 1 0 0 0 0 1
BCHE 1 0 0 0 0 0 0 1
BCKDHB 0 0 1 0 0 0 0 1
BCORL1 0 0 0 1 0 0 0 1
BCS1L 0 1 0 0 0 0 0 1
BDNF 0 0 1 0 0 0 0 1
BEST1 0 0 1 0 0 0 0 1
BFSP1 0 0 1 0 0 0 0 1
BFSP2 0 0 1 0 0 0 0 1
BGN 0 0 1 0 0 0 0 1
BIVM-ERCC5, ERCC5, LOC126861834 0 0 1 0 0 0 0 1
BRCA2, LOC106721785 0 0 0 1 0 0 0 1
BRPF1 0 0 1 0 0 0 0 1
BSND 0 0 1 0 0 0 0 1
BUB1B, BUB1B-PAK6 0 0 1 0 0 0 0 1
C10orf55, PLAU 0 0 1 0 0 0 0 1
C1QTNF5, MFRP 0 0 1 0 0 0 0 1
C3 0 0 1 0 0 0 0 1
C5 0 0 1 0 0 0 0 1
C5, LOC130002496 0 1 0 0 0 0 0 1
C6 0 1 0 0 0 0 0 1
CACNA1A 0 0 1 0 0 0 0 1
CACNA1B, LOC100133077 0 1 0 0 0 0 0 1
CALR 0 0 1 0 0 0 0 1
CAMK2B 0 0 1 0 0 0 0 1
CAMTA1 0 0 0 0 1 0 0 1
CAPN10 0 0 1 0 0 0 0 1
CAPN12 0 0 1 0 0 0 0 1
CAPN13 0 0 1 0 0 0 0 1
CAPN14 0 0 1 0 0 0 0 1
CAPN15 0 0 1 0 0 0 0 1
CASP8 0 0 1 0 0 0 0 1
CASQ1 0 0 1 0 0 0 0 1
CAT 0 0 1 0 0 0 0 1
CATIP, PNKD 0 0 0 1 0 0 0 1
CAV1 0 0 1 0 0 0 0 1
CAVIN1 0 0 1 0 0 0 0 1
CCDC158 0 0 1 0 0 0 0 1
CCDC33, STRA6 0 0 1 0 0 0 0 1
CCDC40, GAA 0 0 1 0 0 0 0 1
CCDC50 0 0 0 0 1 0 0 1
CCL2 0 0 1 0 0 0 0 1
CCR5, CCR5AS 0 0 1 0 0 0 0 1
CD151 0 0 1 0 0 0 0 1
CD207 0 0 1 0 0 0 0 1
CD46 0 0 1 0 0 0 0 1
CD96 0 0 1 0 0 0 0 1
CDH1, LOC130059290 0 0 1 0 0 0 0 1
CDK13 0 0 1 0 0 0 0 1
CDK4, TSPAN31 0 0 1 0 0 0 0 1
CDKL5, RS1 0 0 1 0 0 0 0 1
CEBPA 0 0 1 0 0 0 0 1
CEL 0 0 1 0 0 0 0 1
CEP290, RLIG1 0 0 0 1 0 0 0 1
CEP57 0 0 0 0 1 0 0 1
CERS5, LOC130007880 0 0 1 0 0 0 0 1
CFAP65, LOC100129175 0 0 1 0 0 0 0 1
CFAP96, UFSP2 0 0 0 1 0 0 0 1
CFH 0 0 1 0 0 0 0 1
CFP 0 0 0 1 0 0 0 1
CHD2 0 0 0 1 0 0 0 1
CHD3, NAA38 0 0 1 0 0 0 0 1
CHMP2B 0 0 1 0 0 0 0 1
CHRNA4 0 0 1 0 0 0 0 1
CHRNA5 0 0 1 0 0 0 0 1
CHRNE, LOC130060040 0 0 1 0 0 0 0 1
CHROMR, PRKRA 0 1 0 0 0 0 0 1
CHST10, LOC129934447 0 0 1 0 0 0 0 1
CIC 0 0 0 1 0 0 0 1
CISD2, SLC9B1 0 0 1 0 0 0 0 1
CISH 0 0 1 0 0 0 0 1
CITED2 0 0 1 0 0 0 0 1
CLCN2 0 0 0 0 1 0 0 1
CLCN5 0 0 1 0 0 0 0 1
CLEC1A 0 0 1 0 0 0 0 1
CLIP1 0 0 1 0 0 0 0 1
CLN5, LOC130009913 0 0 1 0 0 0 0 1
CLN8 0 0 1 0 0 0 0 1
CLRN1 1 0 0 0 0 0 0 1
CMYA5 0 0 1 0 0 0 0 1
CNGB1 0 0 0 1 0 0 0 1
CNGB3 0 0 1 0 0 0 0 1
CNOT2 0 0 0 1 0 0 0 1
COG5 0 0 1 0 0 0 0 1
COG7 0 0 1 0 0 0 0 1
COL10A1, NT5DC1 0 0 1 0 0 0 0 1
COL11A1 0 0 1 0 0 0 0 1
COL11A2 0 0 1 0 0 0 0 1
COL2A1 0 0 1 0 0 0 0 1
COL3A1 0 0 1 0 0 0 0 1
COL4A2 0 0 1 0 0 0 0 1
COL4A3, MFF-DT 0 0 1 0 0 0 0 1
COL4A5 0 0 1 0 0 0 0 1
COL6A1 0 0 1 0 0 0 0 1
COL6A6 0 0 1 0 0 0 0 1
COL8A2 0 0 1 0 0 0 0 1
COL9A2 0 0 1 0 0 0 0 1
COLGALT1 0 0 1 0 0 0 0 1
COLQ 0 0 1 0 0 0 0 1
COQ2, LOC112997540 0 0 1 0 0 0 0 1
COQ6, ENTPD5 0 0 1 0 0 0 0 1
COQ9 0 0 1 0 0 0 0 1
CP 0 0 0 1 0 0 0 1
CP, HPS3 0 0 1 0 0 0 0 1
CPOX, LOC129937121 0 0 1 0 0 0 0 1
CPT1A 0 0 1 0 0 0 0 1
CR1 0 0 1 0 0 0 0 1
CRAT 0 0 1 0 0 0 0 1
CRIPTO 0 0 1 0 0 0 0 1
CRP 0 0 1 0 0 0 0 1
CRX 0 0 1 0 0 0 0 1
CRYBA2 0 0 1 0 0 0 0 1
CSRP3 0 0 1 0 0 0 0 1
CTHRC1 0 0 1 0 0 0 0 1
CTNNA2 0 0 1 0 0 0 0 1
CTNNB1 0 0 1 0 0 0 0 1
CTSD 0 0 1 0 0 0 0 1
CTSK 0 0 1 0 0 0 0 1
CTU2 0 0 1 0 0 0 0 1
CUL3 0 0 1 0 0 0 0 1
CX3CR1 0 0 1 0 0 0 0 1
CXCR1 0 0 1 0 0 0 0 1
CXCR4 0 0 1 0 0 0 0 1
CYFIP2, NIPAL4-DT 0 0 0 1 0 0 0 1
CYLD 0 0 1 0 0 0 0 1
CYLD, NOD2 0 0 0 0 0 1 0 1
CYP11A1 0 0 1 0 0 0 0 1
CYP11B1, LOC110673972 0 0 1 0 0 0 0 1
CYP27A1 0 1 0 0 0 0 0 1
CYP2C8 0 0 1 0 0 0 0 1
CYP2C9 0 0 1 0 0 0 0 1
CYP4V2 0 0 1 0 0 0 0 1
DCAF17 0 0 0 0 1 0 0 1
DCX 0 0 1 0 0 0 0 1
DDX3X 0 0 1 0 0 0 0 1
DDX41 0 0 0 0 1 0 0 1
DEAF1 0 0 1 0 0 0 0 1
DGUOK 0 0 1 0 0 0 0 1
DGUOK, LOC129934096 0 0 0 1 0 0 0 1
DHCR24 0 0 1 0 0 0 0 1
DHCR7 1 0 0 0 0 0 0 1
DHX38 0 0 1 0 0 0 0 1
DIAPH2 0 0 1 0 0 0 0 1
DIP2B 0 0 1 0 0 0 0 1
DLC1 0 0 1 0 0 0 0 1
DLD 0 0 1 0 0 0 0 1
DLL3 0 0 1 0 0 0 0 1
DLL4 0 0 1 0 0 0 0 1
DLX4 0 0 1 0 0 0 0 1
DNAAF1 0 0 1 0 0 0 0 1
DNAH17 0 0 1 0 0 0 0 1
DNM2 0 0 1 0 0 0 0 1
DOCK3 0 0 1 0 0 0 0 1
DOLK 0 0 1 0 0 0 0 1
DPM1, LOC130066166 0 0 1 0 0 0 0 1
DPYD 0 0 1 0 0 0 0 1
DRG2 0 0 1 0 0 0 0 1
DSC2 0 0 1 0 0 0 0 1
DSE, LOC129997035, TSPYL1 0 0 1 0 0 0 0 1
DSG1, LOC126862720 0 0 0 0 1 0 0 1
DSTYK 0 0 1 0 0 0 0 1
DTNA 0 0 1 0 0 0 0 1
DVL3 0 0 0 0 1 0 0 1
DYRK1A 0 0 1 0 0 0 0 1
DYRK1B 0 0 1 0 0 0 0 1
EDAR, RANBP2 0 0 1 0 0 0 0 1
EEF2 0 0 1 0 0 0 0 1
EFEMP2 0 0 1 0 0 0 0 1
EGR2 0 0 1 0 0 0 0 1
EHBP1 0 0 1 0 0 0 0 1
EHHADH 0 0 1 0 0 0 0 1
EHMT1 0 0 0 1 0 0 0 1
EIF4G3 0 0 1 0 0 0 0 1
ELOVL5 0 0 1 0 0 0 0 1
ENAM 0 0 1 0 0 0 0 1
ENG 0 0 1 0 0 0 0 1
EPB41 0 0 1 0 0 0 0 1
EPB42 0 0 1 0 0 0 0 1
EPOR 0 0 1 0 0 0 0 1
ERBB2 0 0 1 0 0 0 0 1
ERBB3 0 0 0 1 0 0 0 1
ERCC3 0 0 0 1 0 0 0 1
ERCC6, PGBD3 0 0 1 0 0 0 0 1
ETFB 0 0 1 0 0 0 0 1
EVC 0 0 0 1 0 0 0 1
EZH2 0 0 1 0 0 0 0 1
F2 1 0 0 0 0 1 0 1
F9 0 0 0 0 1 0 0 1
FAH 0 0 1 0 0 0 0 1
FAM111B 0 0 0 0 1 0 0 1
FAM161A 0 0 0 1 0 0 0 1
FAM20C 0 0 1 0 0 0 0 1
FAM83H 0 1 0 0 0 0 0 1
FANCA, LOC112486223 0 0 1 0 0 0 0 1
FANCA, ZNF276 0 0 0 1 0 0 0 1
FANCB 0 0 1 0 0 0 0 1
FANCE 0 0 0 0 1 0 0 1
FANCF 0 0 1 0 0 0 0 1
FANCG 0 0 1 0 0 0 0 1
FARS2 0 0 1 0 0 0 0 1
FAT1, LOC126807253 0 0 0 0 1 0 0 1
FAT1, LOC126807255 0 0 0 0 1 0 0 1
FAT1, LOC132090718 0 0 0 0 1 0 0 1
FAT2 0 0 0 0 1 0 0 1
FBXO11 0 0 1 0 0 0 0 1
FCGR2B 0 0 1 0 0 0 0 1
FDFT1 0 0 1 0 0 0 0 1
FDFT1, LOC129999907 0 0 1 0 0 0 0 1
FFAR4 0 0 1 0 0 0 0 1
FGD4 0 0 1 0 0 0 0 1
FGF16 0 0 1 0 0 0 0 1
FGF23 0 0 1 0 0 0 0 1
FGFR3 0 0 1 0 0 0 0 1
FITM2 0 0 1 0 0 0 0 1
FKBP1A, FKBP1A-SDCBP2 0 0 1 0 0 0 0 1
FOXC1 0 0 1 0 0 0 0 1
FOXC2 0 0 1 0 0 0 0 1
FOXD3 0 0 1 0 0 0 0 1
FOXE1 0 0 1 0 0 0 0 1
FOXE3, LINC01389 0 0 1 0 0 0 0 1
FOXF1 0 0 1 0 0 0 0 1
FOXRED1 0 0 1 0 0 0 0 1
FREM1, LOC126860582 0 0 1 0 0 0 0 1
FSHR 0 0 1 0 0 0 0 1
FTL 0 0 1 0 0 0 0 1
FUCA1, LOC126805661 0 0 1 0 0 0 0 1
FUT2 0 0 1 0 0 0 0 1
FUT6 0 0 1 0 0 0 0 1
FZD2 0 0 1 0 0 0 0 1
GALK1, ITGB4 0 0 1 0 0 0 0 1
GALNT12 0 0 0 1 0 0 0 1
GAS1 0 0 1 0 0 0 0 1
GAS2L2 0 0 1 0 0 0 0 1
GATA1 0 0 1 0 0 0 0 1
GATA5 0 0 1 0 0 0 0 1
GCDH 0 0 1 0 0 0 0 1
GCDH, LOC126862860, SYCE2 0 0 0 0 1 0 0 1
GCGR 0 0 1 0 0 0 0 1
GCKR 0 0 1 0 0 0 0 1
GCM2 0 0 1 0 0 0 0 1
GDAP2 0 0 1 0 0 0 0 1
GDF2 0 0 1 0 0 0 0 1
GEN1 0 0 0 1 0 0 0 1
GFAP 0 0 1 0 0 0 0 1
GFER 0 0 1 0 0 0 0 1
GH-LCR, GH1 0 0 1 0 0 0 0 1
GHRL, GHRLOS 0 0 1 0 0 0 0 1
GIGYF2 0 0 1 0 0 0 0 1
GIPC3 0 0 0 1 0 0 0 1
GJA1 0 0 1 0 0 0 0 1
GJB2 1 0 0 0 0 0 0 1
GJC2 0 0 1 0 0 0 0 1
GLA, RPL36A-HNRNPH2 0 0 1 0 0 0 0 1
GLE1 0 0 1 0 0 0 0 1
GLI1 0 0 1 0 0 0 0 1
GLI3 0 0 1 0 0 0 0 1
GLMN 0 0 1 0 0 0 0 1
GLS 0 0 1 0 0 0 0 1
GNAI3 0 0 1 0 0 0 0 1
GNAT2 0 0 1 0 0 0 0 1
GNB1 0 0 0 1 0 0 0 1
GNPTAB 0 0 1 0 0 0 0 1
GPC4 0 0 1 0 0 0 0 1
GPR143 0 0 0 0 1 0 0 1
GPR179 0 0 1 0 0 0 0 1
GREM1 0 0 1 0 0 0 0 1
GRID2 0 0 1 0 0 0 0 1
GRIN2A 0 0 1 0 0 0 0 1
GRIN2B 0 0 1 0 0 0 0 1
GRIN2D, LOC130064856 0 0 1 0 0 0 0 1
GRM1 0 0 1 0 0 0 0 1
GSDME 0 0 1 0 0 0 0 1
GSR 0 0 1 0 0 0 0 1
GTF2H5 0 0 1 0 0 0 0 1
GUCA1A, GUCA1ANB-GUCA1A 0 0 0 1 0 0 0 1
GUSB 0 0 1 0 0 0 0 1
HABP2 0 0 1 0 0 0 0 1
HADH 0 0 1 0 0 0 0 1
HARS1 0 0 1 0 0 0 0 1
HAVCR2 0 0 1 0 0 0 0 1
HBA1, LOC106804613 0 1 0 0 0 0 0 1
HBB, LOC106099062, LOC107133510 0 0 1 0 0 0 0 1
HMMR 0 0 1 0 0 0 0 1
HMOX1 0 0 1 0 0 0 0 1
HNRNPDL 0 0 1 0 0 0 0 1
HNRNPH2, RPL36A-HNRNPH2 0 0 0 1 0 0 0 1
HOXA13, LOC107126288 0 0 0 1 0 0 0 1
HOXA2 0 0 1 0 0 0 0 1
HPS1 0 0 1 0 0 0 0 1
HPS6, LOC130004578 0 1 0 0 0 0 0 1
HR 0 0 1 0 0 0 0 1
HRAS, LRRC56 0 0 0 0 1 0 0 1
HS6ST1 0 0 1 0 0 0 0 1
HSD17B4 0 0 1 0 0 0 0 1
HSF4 0 0 1 0 0 0 0 1
HSPB8 0 0 1 0 0 0 0 1
HSPG2, LDLRAD2 0 0 0 1 0 0 0 1
HTR1A 0 0 1 0 0 0 0 1
HTT, LOC109461479, LOC129929027 0 0 1 0 0 0 0 1
HYLS1, PUS3 1 0 0 0 0 0 0 1
ICAM4 0 0 1 0 0 0 0 1
IDUA 0 0 0 1 0 0 0 1
IFITM3 0 0 1 0 0 0 0 1
IFNGR1 1 0 0 0 0 0 0 1
IGF1, LINC02456 0 0 1 0 0 0 0 1
IGF2, INS-IGF2 0 0 1 0 0 0 0 1
IGF2R 0 0 1 0 0 0 0 1
IGHMBP2 0 0 0 1 0 0 0 1
IL1B 0 0 1 0 0 0 0 1
IL23R 0 0 1 0 0 0 0 1
IL31RA 0 0 1 0 0 0 0 1
IL4R 0 0 1 0 0 0 0 1
IL6 0 0 1 0 0 0 0 1
IMPG1 0 0 1 0 0 0 0 1
INF2 0 0 1 0 0 0 0 1
INS, INS-IGF2 0 0 0 1 0 0 0 1
INSL6, JAK2 0 0 1 0 0 0 0 1
IREB2 0 0 1 0 0 0 0 1
IRF2BP2 0 0 1 0 0 0 0 1
IRGM 0 0 1 0 0 0 0 1
IRS1 0 0 1 0 0 0 0 1
IRS4 0 0 1 0 0 0 0 1
ITGA2B 0 0 1 0 0 0 0 1
ITGA6, PDK1 0 0 0 1 0 0 0 1
ITGB3 0 0 1 0 0 0 0 1
ITM2B, LOC130009752 0 0 1 0 0 0 0 1
ITPKC 0 0 1 0 0 0 0 1
JAKMIP1 0 0 1 0 0 0 0 1
JPH2 0 0 1 0 0 0 0 1
JPH3 0 0 0 1 0 0 0 1
JUP 0 0 1 0 0 0 0 1
KANSL1 0 0 0 0 1 0 0 1
KAT6A 0 0 0 0 1 0 0 1
KAT6B 0 0 0 0 1 0 0 1
KBTBD13 0 0 1 0 0 0 0 1
KCNA1 0 0 1 0 0 0 0 1
KCNA2 0 0 1 0 0 0 0 1
KCNA5 0 0 1 0 0 0 0 1
KCNC1 0 0 0 1 0 0 0 1
KCNC3 0 0 0 1 0 0 0 1
KCND3 0 0 1 0 0 0 0 1
KCNE1 0 0 0 1 0 0 0 1
KCNH1 0 0 1 0 0 0 0 1
KCNH4 0 0 1 0 0 0 0 1
KCNJ5 0 0 1 0 0 0 0 1
KCNQ2 0 0 1 0 0 0 0 1
KDM1A 0 0 0 1 0 0 0 1
KDM6B 0 0 1 0 0 0 0 1
KEL 0 0 1 0 0 0 0 1
KIDINS220 0 0 1 0 0 0 0 1
KIF1A 0 0 1 0 0 0 0 1
KIF1C 0 0 1 0 0 0 0 1
KIF7, LOC126862216 1 0 0 0 0 0 0 1
KLC1, XRCC3 0 0 1 0 0 0 0 1
KLF11 0 0 1 0 0 0 0 1
KLLN, LOC130004273, PTEN 0 0 1 0 0 0 0 1
KNG1 0 0 1 0 0 0 0 1
KRT1 0 0 1 0 0 0 0 1
KRT16 0 0 1 0 0 0 0 1
KRT18, LOC106096416 0 0 1 0 0 0 0 1
KRT6C 0 0 1 0 0 0 0 1
KRT75 0 0 1 0 0 0 0 1
KRT81, KRT86 0 0 1 0 0 0 0 1
KYAT1-SPOUT1, SPOUT1 0 0 1 0 0 0 0 1
LAMB2 0 0 1 0 0 0 0 1
LARS1 0 0 1 0 0 0 0 1
LEF1 0 0 1 0 0 0 0 1
LGR4 0 0 1 0 0 0 0 1
LHCGR, STON1-GTF2A1L 0 0 1 0 0 0 0 1
LIAS 0 1 0 0 0 0 0 1
LIPC 0 0 1 0 0 0 0 1
LMBR1 0 0 1 0 0 0 0 1
LMO1 0 0 1 0 0 0 0 1
LOC100128494, NUMA1 0 0 1 0 0 0 0 1
LOC106694316, MPO 0 1 0 0 0 0 0 1
LOC107075317, SIX5 0 0 1 0 0 0 0 1
LOC108660405, PPP2R2B 0 0 1 0 0 0 0 1
LOC110011216, PHOX2B 0 0 0 1 0 0 0 1
LOC111258525, NOS1 0 0 1 0 0 0 0 1
LOC112529895, SCO1 0 0 1 0 0 0 0 1
LOC113687175, TFR2 0 0 1 0 0 0 0 1
LOC113788297, NDUFAF6 0 0 1 0 0 0 0 1
LOC125371447, LOC130062896, STK11 1 0 0 0 0 0 0 1
LOC126806316, PAX8 0 0 1 0 0 0 0 1
LOC126806373, NEB 0 0 1 0 0 0 0 1
LOC126806421, TTN 0 0 1 0 0 0 0 1
LOC126806427, TTN 0 0 1 0 0 0 0 1
LOC126806490, UNC80 0 0 1 0 0 0 0 1
LOC126806608, WNT7A 0 0 1 0 0 0 0 1
LOC126806798, ZNF148 0 0 0 1 0 0 0 1
LOC126807101, WDFY3 0 0 1 0 0 0 0 1
LOC126807124, MTTP 0 1 0 0 0 0 0 1
LOC126859838, SYNE1 0 0 1 0 0 0 0 1
LOC126860417, MSC, TRPA1 0 0 1 0 0 0 0 1
LOC126860741, TNC 0 0 0 1 0 0 0 1
LOC126860802, ZMYND11 0 0 0 1 0 0 0 1
LOC126861365, TBCEL-TECTA, TECTA 0 0 1 0 0 0 0 1
LOC126861801, TBC1D4 0 0 1 0 0 0 0 1
LOC126861898, MYH7 0 0 1 0 0 0 0 1
LOC126862494, MYH8, MYHAS 0 0 1 0 0 0 0 1
LOC127407129, RFX6 0 0 1 0 0 0 0 1
LOC127814297, POU4F3 0 0 1 0 0 0 0 1
LOC129931468, LORICRIN 0 0 1 0 0 0 0 1
LOC129933334, OTOF 0 0 1 0 0 0 0 1
LOC129992625, SRP72 0 0 0 1 0 0 0 1
LOC129999303, SMO 0 0 1 0 0 0 0 1
LOC130001234, ZFAT 0 0 1 0 0 0 0 1
LOC130001411, RECQL4 0 0 1 0 0 0 0 1
LOC130005193, SMPD1 0 0 1 0 0 0 0 1
LOC130059156, TK2 0 1 0 0 0 0 0 1
LOC130059818, SPG7 0 0 1 0 0 0 0 1
LOC130061271, MKS1 0 0 1 0 0 0 0 1
LOC130061310, RAD51C 0 0 0 1 0 0 0 1
LOC130062061, TBCD 0 0 1 0 0 0 0 1
LOC130063193, MAP2K2 0 0 1 0 0 0 0 1
LOC130063648, MAN2B1 0 0 1 0 0 0 0 1
LOC130064357, RYR1 0 0 1 0 0 0 0 1
LORICRIN 0 0 0 1 0 0 0 1
LPL 0 0 1 0 0 0 0 1
LRAT 0 0 1 0 0 0 0 1
LRP4 0 0 1 0 0 0 0 1
LRRC51, LRTOMT 0 0 0 1 0 0 0 1
LRRC8A 0 0 0 1 0 0 0 1
LRRK1 0 0 1 0 0 0 0 1
LYZ 0 0 1 0 0 0 0 1
MAB21L1, NBEA 0 0 1 0 0 0 0 1
MANBA 0 1 0 0 0 0 0 1
MAP2K2 0 0 1 0 0 0 0 1
MAP3K1 0 0 1 0 0 0 0 1
MAP3K7 0 0 0 0 1 0 0 1
MAPK10 0 0 1 0 0 0 0 1
MARCHF6 0 0 1 0 0 0 0 1
MARK3 0 0 1 0 0 0 0 1
MARS2 0 0 1 0 0 0 0 1
MAT1A 0 0 1 0 0 0 0 1
MCCC2 0 0 1 0 0 0 0 1
MCM8 1 0 0 0 0 0 0 1
MCOLN1 0 0 1 0 0 0 0 1
MECP2 0 0 1 0 0 0 0 1
MED13L 0 0 1 0 0 0 0 1
MEF2A 0 0 1 0 0 0 0 1
MEN1 0 0 1 0 0 0 0 1
MET 0 0 1 0 0 0 0 1
MFAP5 0 0 0 1 0 0 0 1
MGAT2 0 0 1 0 0 0 0 1
MMAB 0 0 1 0 0 0 0 1
MMP14 0 0 1 0 0 0 0 1
MMP3 0 0 1 0 0 0 0 1
MMP9 0 0 1 0 0 0 0 1
MMUT 0 0 1 0 0 0 0 1
MNX1 0 0 1 0 0 0 0 1
MOG 0 0 1 0 0 0 0 1
MORC2 0 0 0 1 0 0 0 1
MPI 0 0 1 0 0 0 0 1
MPO 0 0 1 0 0 0 0 1
MPZ 0 0 1 0 0 0 0 1
MRAP2 0 0 1 0 0 0 0 1
MSX2 0 0 1 0 0 0 0 1
MTFMT 0 0 1 0 0 0 0 1
MTHFR 0 0 0 0 1 0 0 1
MTHFS, ST20-MTHFS 0 0 1 0 0 0 0 1
MTMR2 0 0 1 0 0 0 0 1
MVK 1 0 0 0 0 0 0 1
MYBPC1 0 0 1 0 0 0 0 1
MYH11 0 0 1 0 0 0 0 1
MYH11, NDE1 0 0 1 0 0 0 0 1
MYH2, MYHAS 0 0 1 0 0 0 0 1
MYH3 0 0 1 0 0 0 0 1
MYH9 0 0 1 0 0 0 0 1
MYLK2 0 0 1 0 0 0 0 1
MYO3A 0 0 1 0 0 0 0 1
MYO6 0 0 1 0 0 0 0 1
MYOC 0 0 1 0 0 0 0 1
MYORG 0 0 1 0 0 0 0 1
MYSM1 0 0 1 0 0 0 0 1
NAA15 0 0 0 1 0 0 0 1
NAGLU 0 0 1 0 0 0 0 1
NALCN 0 0 1 0 0 0 0 1
NAXD 0 0 1 0 0 0 0 1
NBAS 0 0 1 0 0 0 0 1
NDRG1 0 0 1 0 0 0 0 1
NDUFA11 0 0 1 0 0 0 0 1
NDUFB9 0 0 1 0 0 0 0 1
NDUFS1 0 0 1 0 0 0 0 1
NDUFS7 0 0 0 1 0 0 0 1
NEFH 0 0 0 1 0 0 0 1
NEFM 0 0 1 0 0 0 0 1
NEUROD1 0 0 1 0 0 0 0 1
NEXMIF 0 0 1 0 0 0 0 1
NF2 0 0 1 0 0 0 0 1
NFE2L2 0 0 0 0 1 0 0 1
NFKB2 0 0 1 0 0 0 0 1
NHERF1, SLC9A3R1 0 0 1 0 0 0 0 1
NIN 0 0 1 0 0 0 0 1
NIPA1 0 0 1 0 0 0 0 1
NLGN3 0 0 1 0 0 0 0 1
NLRC4 0 0 1 0 0 0 0 1
NLRP1 0 0 1 0 0 0 0 1
NLRP12 0 0 1 0 0 0 0 1
NME1, NME1-NME2 0 0 1 0 0 0 0 1
NOD2 0 0 1 0 0 0 0 1
NOP56 0 0 1 0 0 0 0 1
NPC1L1 0 0 1 0 0 0 0 1
NPR2 0 0 1 0 0 0 0 1
NRIP1 0 0 0 1 0 0 0 1
NRL 0 0 1 0 0 0 0 1
NSD1 0 0 1 0 0 0 0 1
NSDHL 0 0 1 0 0 0 0 1
NTRK2 0 0 1 0 0 0 0 1
NUMA1 0 0 1 0 0 0 0 1
NUP107 0 0 1 0 0 0 0 1
NUP37 0 0 1 0 0 0 0 1
NUP85 0 0 1 0 0 0 0 1
OPA1 0 0 1 0 0 0 0 1
OR4F15 0 0 1 0 0 0 0 1
OSMR 0 0 1 0 0 0 0 1
OSTM1 0 0 1 0 0 0 0 1
OTOA 0 0 1 0 0 0 0 1
P2RX2 0 0 0 0 1 0 0 1
P3H1 0 0 0 1 0 0 0 1
P4HTM 0 0 1 0 0 0 0 1
PAFAH1B1 0 0 1 0 0 0 0 1
PAX3 0 0 1 0 0 0 0 1
PAX6 0 0 1 0 0 0 0 1
PAX8 0 0 1 0 0 0 0 1
PBX1 0 0 1 0 0 0 0 1
PCDH12, RNF14 1 0 0 0 0 0 0 1
PCDH19 0 0 1 0 0 0 0 1
PDE10A 0 0 1 0 0 0 0 1
PDE4D 0 0 1 0 0 0 0 1
PDE4DIP 0 0 1 0 0 0 0 1
PDE6B 0 0 1 0 0 0 0 1
PDGFRL 0 0 1 0 0 0 0 1
PDP1 0 0 1 0 0 0 0 1
PEG3, ZIM2 0 0 1 0 0 0 0 1
PER2 0 0 0 1 0 0 0 1
PEX6 0 0 1 0 0 0 0 1
PHEX 0 0 1 0 0 0 0 1
PHKA1 0 0 1 0 0 0 0 1
PIGG 1 0 0 0 0 0 0 1
PIGT 0 0 1 0 0 0 0 1
PIK3R5, PIK3R5-DT 0 0 1 0 0 0 0 1
PISD 0 0 1 0 0 0 0 1
PKD1, TSC2 0 0 0 0 1 0 0 1
PKP2 0 0 1 0 0 0 0 1
PLA2G7 0 0 1 0 0 0 0 1
PLCG2 0 0 1 0 0 0 0 1
PMVK 0 0 1 0 0 0 0 1
POLR2F, SOX10 0 0 1 0 0 0 0 1
POMK 0 0 1 0 0 0 0 1
PON1 0 0 1 0 0 0 0 1
POR 0 0 1 0 0 0 0 1
POT1 0 0 1 0 0 0 0 1
POU3F4 0 0 0 1 0 0 0 1
PPARG 0 0 1 0 0 0 0 1
PPM1D 0 0 1 0 0 0 0 1
PPM1K 0 0 1 0 0 0 0 1
PPP1CB 0 0 1 0 0 0 0 1
PPP2R2B 0 0 0 1 0 0 0 1
PPP2R5D 0 0 1 0 0 0 0 1
PRDM6 0 0 1 0 0 0 0 1
PREPL, SLC3A1 0 0 1 0 0 0 0 1
PRKAG2 0 0 1 0 0 0 0 1
PRKAR1A 0 0 1 0 0 0 0 1
PRKCG 0 0 1 0 0 0 0 1
PRKCSH 0 0 1 0 0 0 0 1
PRKD1 0 0 0 1 0 0 0 1
PRKG1 0 0 1 0 0 0 0 1
PRKN 0 0 1 0 0 0 0 1
PRKRA 0 0 1 0 0 0 0 1
PRODH 0 0 1 0 0 0 0 1
PROM1 0 0 1 0 0 0 0 1
PRPF3 0 0 1 0 0 0 0 1
PRPF4 0 0 1 0 0 0 0 1
PRPF8 0 0 1 0 0 0 0 1
PRPH, TROAP 0 0 1 0 0 0 0 1
PRPH2 0 0 1 0 0 0 0 1
PSAT1 0 0 0 1 0 0 0 1
PSTPIP1 0 0 1 0 0 0 0 1
PTGDR 0 0 1 0 0 0 0 1
PTPN11 0 0 1 0 0 0 0 1
PTPRJ 0 0 1 0 0 0 0 1
PUF60 0 0 1 0 0 0 0 1
PURA 0 0 0 1 0 0 0 1
PUS1 0 0 1 0 0 0 0 1
PYROXD1, RECQL 0 0 1 0 0 0 0 1
RAB11A 0 0 1 0 0 0 0 1
RAB23 0 0 1 0 0 0 0 1
RAB27A 0 0 1 0 0 0 0 1
RAB3GAP1 0 0 1 0 0 0 0 1
RAB3GAP2 0 0 1 0 0 0 0 1
RAD51 0 0 1 0 0 0 0 1
RAG1 0 1 0 0 0 0 0 1
RAG2 0 0 1 0 0 0 0 1
RBP3 0 0 1 0 0 0 0 1
RBP4 0 0 1 0 0 0 0 1
RD3 0 0 1 0 0 0 0 1
RDX 0 0 1 0 0 0 0 1
REN 0 0 1 0 0 0 0 1
RERE 0 0 1 0 0 0 0 1
RET 0 0 1 0 0 0 0 1
RFC1 0 0 1 0 0 0 0 1
RGS9 0 0 1 0 0 0 0 1
RHBDF2 0 0 1 0 0 0 0 1
RIPOR1 0 0 1 0 0 0 0 1
RNASEL 0 0 1 0 0 0 0 1
RNF139 0 0 1 0 0 0 0 1
RNF212 0 0 1 0 0 0 0 1
ROBO3 0 0 1 0 0 0 0 1
RPGRIP1 0 0 0 1 0 0 0 1
RPS20 0 0 1 0 0 0 0 1
RPS24 0 0 1 0 0 0 0 1
RSPH4A 1 0 0 0 0 0 0 1
RTN4 0 0 1 0 0 0 0 1
RUNX1 0 0 1 0 0 0 0 1
SALL1 0 0 1 0 0 0 0 1
SASH1 0 0 1 0 0 0 0 1
SATB2 0 0 0 0 1 0 0 1
SBDS 0 0 1 0 0 0 0 1
SC5D 0 0 1 0 0 0 0 1
SCAPER 0 0 1 0 0 0 0 1
SCN1A, SCN9A 0 0 1 0 0 0 0 1
SCN5A 0 0 1 0 0 0 0 1
SCP2 0 0 1 0 0 0 0 1
SEC23B 1 0 0 0 0 0 0 1
SECISBP2 0 0 1 0 0 0 0 1
SELENBP1 0 0 1 0 0 0 0 1
SELENON 0 0 1 0 0 0 0 1
SEMA3E 0 0 1 0 0 0 0 1
SEPTIN9 0 0 1 0 0 0 0 1
SERPINA3 0 0 1 0 0 0 0 1
SERPINF1 0 0 1 0 0 0 0 1
SF3B4 0 0 0 1 0 0 0 1
SFTPB 0 0 1 0 0 0 0 1
SFTPC 0 0 0 1 0 0 0 1
SGCA 0 0 1 0 0 0 0 1
SGSH 0 0 1 0 0 0 0 1
SH3TC2 0 0 1 0 0 0 0 1
SHANK3 0 0 1 0 0 0 0 1
SHMT2 0 0 1 0 0 0 0 1
SHROOM4 0 0 0 0 1 0 0 1
SIK1 0 0 1 0 0 0 0 1
SIK3 0 0 1 0 0 0 0 1
SIN3A 0 0 1 0 0 0 0 1
SIX3 0 0 1 0 0 0 0 1
SIX5 0 0 0 1 0 0 0 1
SLC12A1 0 0 1 0 0 0 0 1
SLC16A12 0 0 1 0 0 0 0 1
SLC1A2 0 0 0 0 1 0 0 1
SLC22A5 0 0 1 0 0 0 0 1
SLC25A22 0 0 1 0 0 0 0 1
SLC25A4 0 0 1 0 0 0 0 1
SLC25A46 0 0 1 0 0 0 0 1
SLC26A2 0 0 1 0 0 0 0 1
SLC2A10 0 0 1 0 0 0 0 1
SLC2A2 0 0 1 0 0 0 0 1
SLC2A9 0 0 1 0 0 0 0 1
SLC30A2 0 0 1 0 0 0 0 1
SLC34A2 0 0 1 0 0 0 0 1
SLC35A1 0 0 0 0 1 0 0 1
SLC35A2 0 0 0 1 0 0 0 1
SLC35C1 0 0 0 1 0 0 0 1
SLC35D1 0 0 1 0 0 0 0 1
SLC36A2 0 0 1 0 0 0 0 1
SLC37A4 0 0 1 0 0 0 0 1
SLC40A1 0 0 1 0 0 0 0 1
SLC6A14 0 0 1 0 0 0 0 1
SLC6A2 0 0 1 0 0 0 0 1
SLC7A9 0 0 1 0 0 0 0 1
SLC9A7 0 0 1 0 0 0 0 1
SLC9A9 0 0 1 0 0 0 0 1
SLFN14 0 0 1 0 0 0 0 1
SLX4 0 0 1 0 0 0 0 1
SMAD3 0 0 1 0 0 0 0 1
SMAD6 0 0 1 0 0 0 0 1
SMAD7 0 0 1 0 0 0 0 1
SMAD9 0 0 0 0 1 0 0 1
SMARCAD1 0 0 1 0 0 0 0 1
SMARCE1 0 0 1 0 0 0 0 1
SNCA 0 0 1 0 0 0 0 1
SNHG14, UBE3A 0 0 1 0 0 0 0 1
SNRNP200 0 0 1 0 0 0 0 1
SNTA1 0 0 1 0 0 0 0 1
SOX17 0 0 1 0 0 0 0 1
SOX4 0 0 1 0 0 0 0 1
SPART 0 0 1 0 0 0 0 1
SPG7 0 0 1 0 0 0 0 1
SPINK1 0 0 0 0 0 0 1 1
SPNS2 0 0 1 0 0 0 0 1
SPTB 0 0 1 0 0 0 0 1
SRCAP 0 0 1 0 0 0 0 1
SRP72 0 0 1 0 0 0 0 1
SRPX2 0 0 0 1 0 0 0 1
STARD7 0 0 1 0 0 0 0 1
STAT3 0 0 0 0 1 0 0 1
STOX1 0 0 1 0 0 0 0 1
STRA6 0 0 1 0 0 0 0 1
SUCO 0 0 1 0 0 0 0 1
SUFU 0 0 1 0 0 0 0 1
SUMF1 0 1 0 0 0 0 0 1
SUOX 0 0 1 0 0 0 0 1
SYP 0 0 0 1 0 0 0 1
TBC1D24 0 1 0 0 0 0 0 1
TBC1D8B 0 0 1 0 0 0 0 1
TBCE 0 0 0 1 0 0 0 1
TBK1 0 0 1 0 0 0 0 1
TBX20 0 0 1 0 0 0 0 1
TBXA2R 0 0 1 0 0 0 0 1
TCF3 0 0 1 0 0 0 0 1
TCF4 0 0 1 0 0 0 0 1
TCOF1 0 0 1 0 0 0 0 1
TCTN1 0 0 0 1 0 0 0 1
TDRD9 0 0 1 0 0 0 0 1
TFE3 0 0 0 1 0 0 0 1
TGFB1 0 0 1 0 0 0 0 1
TGM6 0 0 0 1 0 0 0 1
THBS3 0 0 1 0 0 0 0 1
THPO 0 0 1 0 0 0 0 1
THTPA, ZFHX2 0 0 1 0 0 0 0 1
TICAM1 0 0 1 0 0 0 0 1
TIMM44 0 0 1 0 0 0 0 1
TIMMDC1 0 0 1 0 0 0 0 1
TLR3 0 0 1 0 0 0 0 1
TMEM126B 0 1 0 0 0 0 0 1
TMEM127 0 0 1 0 0 0 0 1
TMEM237 0 1 0 0 0 0 0 1
TMEM244 0 0 1 0 0 0 0 1
TMEM38B 0 0 1 0 0 0 0 1
TMX2, TMX2-CTNND1 0 0 1 0 0 0 0 1
TNFAIP3 0 0 1 0 0 0 0 1
TNNC1 0 0 1 0 0 0 0 1
TNNI2 0 0 0 1 0 0 0 1
TNNT2 0 0 1 0 0 0 0 1
TNS1 0 0 1 0 0 0 0 1
TOP2A 0 0 1 0 0 0 0 1
TOP3A 0 0 1 0 0 0 0 1
TOP6BL 0 0 1 0 0 0 0 1
TOPBP1 0 0 1 0 0 0 0 1
TPH2 0 0 1 0 0 0 0 1
TRAPPC6B 0 0 1 0 0 0 0 1
TRIP12 0 0 1 0 0 0 0 1
TRIT1 0 0 1 0 0 0 0 1
TRPC3 0 0 1 0 0 0 0 1
TRPC6 0 0 1 0 0 0 0 1
TRPV4 0 0 1 0 0 0 0 1
TSC1 0 0 1 0 0 0 0 1
TTBK2 0 0 1 0 0 0 0 1
TTC19 0 0 1 0 0 0 0 1
TTC21A 0 0 1 0 0 0 0 1
TTC21B 0 0 1 0 0 0 0 1
TTC8 0 0 1 0 0 0 0 1
TTPA 1 0 0 0 0 0 0 1
TUBA4A 0 0 0 1 0 0 0 1
TUBB6 0 0 1 0 0 0 0 1
TULP1 0 0 1 0 0 0 0 1
TWIST2 0 0 1 0 0 0 0 1
TYRP1 0 0 1 0 0 0 0 1
U2AF2 0 0 1 0 0 0 0 1
UBAP1 0 0 1 0 0 0 0 1
UCP2 0 0 1 0 0 0 0 1
UFSP2 0 0 1 0 0 0 0 1
UGT2B17 0 0 1 0 0 0 0 1
UMOD 0 0 1 0 0 0 0 1
UNC80 0 0 1 0 0 0 0 1
USP27X 0 0 1 0 0 0 0 1
USP50, USP8 0 0 1 0 0 0 0 1
USP9X 0 0 1 0 0 0 0 1
UTRN 0 0 1 0 0 0 0 1
VAPB 0 0 1 0 0 0 0 1
VCAM1 0 0 1 0 0 0 0 1
VCL 0 0 1 0 0 0 0 1
VIM 0 0 1 0 0 0 0 1
VLDLR 0 0 1 0 0 0 0 1
VNN1 0 0 1 0 0 0 0 1
VPS13D 0 0 1 0 0 0 0 1
VSX2 0 0 1 0 0 0 0 1
WDR11 0 0 1 0 0 0 0 1
WIPI2 0 0 1 0 0 0 0 1
WNT10A 0 0 1 0 0 0 0 1
WT1 0 0 1 0 0 0 0 1
WWC1 0 0 1 0 0 0 0 1
XPA 0 0 0 1 0 0 0 1
XRCC3 0 0 1 0 0 0 0 1
ZEB2 0 0 1 0 0 0 0 1
ZFAT 0 0 1 0 0 0 0 1
ZFHX4 0 0 1 0 0 0 0 1
ZFP57 0 0 1 0 0 0 0 1
ZFPM2 0 0 1 0 0 0 0 1
ZFYVE27 0 0 1 0 0 0 0 1
ZIC1 0 0 1 0 0 0 0 1
ZKSCAN3 0 0 1 0 0 0 0 1
ZMIZ1 0 0 0 1 0 0 0 1
ZNF142 0 0 1 0 0 0 0 1
ZNF341 0 0 1 0 0 0 0 1
ZNF408 0 0 1 0 0 0 0 1
ZNF469 0 0 1 0 0 0 0 1
ZP2 0 0 1 0 0 0 0 1
ZSWIM6 0 0 0 1 0 0 0 1

Condition and significance breakdown #

Total conditions: 127
Download table as spreadsheet
Condition pathogenic likely pathogenic uncertain significance likely benign benign established risk allele likely risk allele total
not provided 297 73 2983 511 0 0 0 3864
Malignant tumor of breast 297 36 783 486 178 0 0 1780
Polycystic kidney disease 166 23 167 193 143 0 0 692
Carcinoma of colon 255 33 174 133 73 0 0 668
not specified 0 0 35 51 296 0 0 382
Endometrial carcinoma 46 6 39 27 20 0 0 138
Lynch syndrome 64 7 40 14 4 0 0 128
Breast-ovarian cancer, familial, susceptibility to, 2 37 0 37 21 11 0 0 106
Breast-ovarian cancer, familial, susceptibility to, 1 29 2 19 7 3 0 0 60
Hereditary breast ovarian cancer syndrome 41 13 0 0 0 0 0 54
Familial ovarian cancer 5 0 32 11 3 0 0 51
Familial adenomatous polyposis 1 15 0 13 11 3 0 0 42
Polymerase proofreading-related adenomatous polyposis 0 0 13 14 6 0 0 33
Familial multiple polyposis syndrome 29 0 0 0 3 0 0 32
Autosomal dominant polycystic kidney disease 4 0 2 2 3 0 0 11
Familial pancreatic carcinoma 3 0 8 0 0 0 0 11
Hereditary diffuse gastric adenocarcinoma 1 0 5 5 0 0 0 11
Bile duct cancer 0 0 3 4 3 0 0 10
Pancreatic cancer, susceptibility to, 3 3 1 5 1 0 0 0 10
Familial adenomatous polyposis 2 3 0 3 3 0 0 0 9
Generalized juvenile polyposis/juvenile polyposis coli 1 1 4 2 0 0 0 8
Ataxia-telangiectasia syndrome 0 0 4 2 0 0 0 6
Breast-ovarian cancer, familial, susceptibility to, 4 2 1 3 0 0 0 0 6
Polyposis syndrome, hereditary mixed, 2 0 2 0 0 4 0 0 6
Breast-ovarian cancer, familial, susceptibility to, 3 3 1 1 0 0 0 0 5
Familial cancer of breast 1 0 3 1 0 0 0 5
Fanconi anemia complementation group C 1 0 3 1 0 0 0 5
Peutz-Jeghers syndrome 0 0 1 4 0 0 0 5
Autosomal recessive polycystic kidney disease 3 1 0 0 0 0 0 4
Familial colorectal cancer 0 1 1 2 0 0 0 4
Microcephaly, normal intelligence and immunodeficiency 0 1 1 2 0 0 0 4
Li-Fraumeni syndrome 1 1 0 1 1 0 0 0 3
Niemann-Pick disease, type C1 0 1 2 0 0 0 0 3
Charlevoix-Saguenay spastic ataxia 0 0 2 0 0 0 0 2
Fanconi anemia complementation group J 0 0 2 0 0 0 0 2
Hereditary pancreatitis 0 0 2 0 0 0 0 2
Immunodeficiency, common variable, 2 0 0 0 0 0 2 0 2
Malignant neoplasm of brain 0 0 1 1 0 0 0 2
Malignant tumor of thyroid gland 0 0 2 0 0 0 0 2
Muscular dystrophy 0 0 2 0 0 0 0 2
Phenylketonuria 1 0 1 0 0 0 0 2
Pigmentary pallidal degeneration 1 0 1 0 0 0 0 2
X-linked spondyloepimetaphyseal dysplasia 2 0 0 0 0 0 0 2
Abetalipoproteinaemia 0 1 0 0 0 0 0 1
Alzheimer disease 0 0 0 0 0 1 0 1
Alzheimer disease 2 0 0 0 0 0 1 0 1
Aortic aneurysm, familial thoracic 8 0 0 1 0 0 0 0 1
Arthrogryposis multiplex congenita 3, myogenic type 0 0 1 0 0 0 0 1
Aural atresia, congenital 0 0 1 0 0 0 0 1
Autosomal dominant Parkinson disease 8 0 0 0 1 0 0 0 1
Autosomal dominant ichthyosis vulgaris 0 0 1 0 0 0 0 1
Autosomal recessive ataxia, Beauce type 0 0 1 0 0 0 0 1
Beta-D-mannosidosis 0 1 0 0 0 0 0 1
Cataract 12 multiple types 0 0 1 0 0 0 0 1
Cerebral palsy, spastic quadriplegic, 2 0 0 1 0 0 0 0 1
Cervical cancer 0 0 0 1 0 0 0 1
Ciliary dyskinesia, primary, 40 0 0 1 0 0 0 0 1
Cognitive impairment - coarse facies - heart defects - obesity - pulmonary involvement - short stature - skeletal dysplasia syndrome 0 0 1 0 0 0 0 1
Colon cancer 1 0 0 0 0 0 0 1
Colorectal cancer 0 0 0 0 0 1 0 1
Congenital prothrombin deficiency 1 0 0 0 0 0 0 1
Crohn’s Disease 0 0 0 0 0 1 0 1
Dent disease type 1 0 0 1 0 0 0 0 1
Desmoid tumor 1 0 0 0 0 0 0 1
Dystonia 16 0 1 0 0 0 0 0 1
Dystonia 24 0 0 1 0 0 0 0 1
Emery-Dreifuss muscular dystrophy 4, autosomal dominant 0 0 1 0 0 0 0 1
Epidermolysis bullosa simplex 5B, with muscular dystrophy 0 0 0 1 0 0 0 1
Familial adenomatous polyposis 3 1 0 0 0 0 0 0 1
Fanconi anemia complementation group N 0 0 0 1 0 0 0 1
Focal segmental glomerulosclerosis, susceptibility to 0 0 0 0 0 1 0 1
Glycogen storage disease, type II 1 0 0 0 0 0 0 1
Hereditary factor XI deficiency disease 1 0 0 0 0 0 0 1
Hereditary nonpolyposis colorectal neoplasms 0 1 0 0 0 0 0 1
Hermansky-Pudlak syndrome 6 0 1 0 0 0 0 0 1
Hypokalemic periodic paralysis, type 1 0 0 1 0 0 0 0 1
Hypophosphatemic rickets, X-linked recessive 0 0 1 0 0 0 0 1
Intellectual developmental disorder with autism and macrocephaly 0 1 0 0 0 0 0 1
Intellectual disability-epilepsy-extrapyramidal syndrome 0 0 1 0 0 0 0 1
Leber congenital amaurosis 6 0 0 0 1 0 0 0 1
Leigh syndrome 0 0 0 0 1 0 0 1
Li-Fraumeni syndrome 2 0 0 0 0 0 1 0 1
Lissencephaly 9 with complex brainstem malformation 0 0 0 1 0 0 0 1
Long QT syndrome 11 0 0 1 0 0 0 0 1
Lung cancer 0 0 0 1 0 0 0 1
Lynch syndrome 8 0 0 1 0 0 0 0 1
Malignant hyperthermia, susceptibility to, 5 0 0 1 0 0 0 0 1
Marinesco-Sjögren syndrome 0 0 1 0 0 0 0 1
Metachromatic leukodystrophy, juvenile type 0 0 1 0 0 0 0 1
Multiple epiphyseal dysplasia type 1 0 0 1 0 0 0 0 1
Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type a, 12 0 0 1 0 0 0 0 1
Neurofibromatosis, type 2 0 0 1 0 0 0 0 1
Ovarian cancer 0 0 0 1 0 0 0 1
PTEN hamartoma tumor syndrome 0 0 0 1 0 0 0 1
PULMONARY ALVEOLAR MICROLITHIASIS 0 0 1 0 0 0 0 1
Pancreatitis 0 0 0 0 0 0 1 1
Papillary thyroid carcinoma 0 0 1 0 0 0 0 1
Premature ovarian failure 10 1 0 0 0 0 0 0 1
Progressive osseous heteroplasia 0 0 1 0 0 0 0 1
Proteinuria, low molecular weight, with hypercalciuria and nephrocalcinosis 0 0 1 0 0 0 0 1
Pseudoachondroplastic spondyloepiphyseal dysplasia syndrome 0 0 1 0 0 0 0 1
Pseudohypoparathyroidism 0 0 1 0 0 0 0 1
Pseudohypoparathyroidism type 1B 0 0 1 0 0 0 0 1
Pseudohypoparathyroidism type 1C 0 0 1 0 0 0 0 1
Pseudopseudohypoparathyroidism 0 0 1 0 0 0 0 1
Retinitis pigmentosa 1 0 0 0 1 0 0 0 1
Rod-cone dystrophy 0 0 0 1 0 0 0 1
Rothmund-Thomson syndrome type 1 0 0 1 0 0 0 0 1
Sandhoff disease 0 1 0 0 0 0 0 1
Smoking as a quantitative trait locus 3 0 0 1 0 0 0 0 1
Spondylometaphyseal dysplasia - Sutcliffe type 0 0 1 0 0 0 0 1
Sterol carrier protein 2 deficiency 0 0 1 0 0 0 0 1
Subcutaneous panniculitis-like T-cell lymphoma 0 0 1 0 0 0 0 1
Thrombophilia 3 due to protein C deficiency 0 0 0 0 0 1 0 1
Thrombophilia caused by F2 prothrombin deficiency 0 0 0 0 0 1 0 1
Thrombophilia due to activated protein C resistance 0 0 0 0 0 1 0 1
Thyroid cancer, nonmedullary, 2 0 0 1 0 0 0 0 1
Thyrotoxic periodic paralysis, susceptibility to, 1 0 0 1 0 0 0 0 1
Triple-negative breast carcinoma 0 0 0 0 1 0 0 1
Tyrosinase-negative oculocutaneous albinism 0 0 0 0 1 0 0 1
White sponge nevus 1 0 0 0 1 0 0 0 1
Wilson disease 0 0 1 0 0 0 0 1
X-linked cerebral adrenoleukodystrophy 0 0 1 0 0 0 0 1
X-linked recessive nephrolithiasis with renal failure 0 0 1 0 0 0 0 1
von Willebrand disease type 1 0 0 1 0 0 0 0 1
von Willebrand disease type 2 0 0 1 0 0 0 0 1
von Willebrand disease type 3 0 0 1 0 0 0 0 1

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