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

Minimum submission review status:		Collection method:
Minimum conflict level: Report conflict between different conditions
Gene type: Distinguish antisense genes from sense genes
Show significances as they were submitted (without aggregation into standard terms)
		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
1306	213	4421	1513	754	10	1	8212

Gene and significance breakdown #

Total genes and gene combinations: 1515

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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	176	173	117	0	0	601
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	19	109	32	16	0	0	264
ATM	14	5	108	67	27	0	0	221
PMS2	41	10	68	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	55	29	8	0	0	104
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	4	29	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
MLH3	0	0	4	6	3	0	0	13
PDGFRA	0	0	10	1	2	0	0	13
SMAD4	2	0	5	6	0	0	0	13
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
CCDST, FLG	2	1	2	3	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
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
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
FLG	0	0	4	1	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
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	0	0	2	0	0	0	0	2
PON2	0	0	2	0	0	0	0	2
POT1	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
AARS2	0	0	1	0	0	0	0	1
AARS2, POLR1C	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
CTNNA1, LRRTM2	1	0	0	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