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 209 4422 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 10 123 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</