Variants studied for Neoplasm

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)

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
348	912	449	4	4	1717

Gene and significance breakdown #

Total genes and gene combinations: 316

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Gene or gene combination	pathogenic	likely pathogenic	uncertain significance	likely benign	benign	total
TP53	117	110	27	0	1	255
PTEN	19	59	13	0	0	91
APC	16	54	2	0	0	72
NF1	5	38	6	0	0	49
RB1	8	26	9	0	0	43
ARID1A	2	32	7	0	0	41
ATRX	0	35	5	0	0	40
EGFR	13	9	15	1	0	38
PIK3CA	16	13	8	1	0	38
KMT2D	0	30	2	0	0	32
SMAD4	3	17	10	0	0	30
CDKN2A	7	12	4	0	1	24
ATM, C11orf65	2	10	10	0	0	22
CREBBP	6	11	3	0	0	20
KMT2C	0	20	0	0	0	20
KRAS	11	5	3	0	0	19
BAP1	0	14	4	0	0	18
SETD2	0	15	3	0	0	18
ATM	4	8	5	0	0	17
BRAF	8	4	5	0	0	17
PIK3R1	2	8	6	0	0	16
FAT1	0	12	1	0	0	13
NOTCH1	4	5	3	1	0	13
BRCA2	5	4	3	0	0	12
SMARCA4	0	8	4	0	0	12
CDH1	1	10	0	0	0	11
CIC	0	9	2	0	0	11
CTNNB1, LOC126806658	8	1	2	0	0	11
ERBB2	5	4	2	0	0	11
ARID1A, LOC129929837	1	9	0	0	0	10
KDM6A	0	9	1	0	0	10
STK11	2	8	0	0	0	10
B2M	0	7	2	0	0	9
FBXW7	3	1	5	0	0	9
FGFR2	2	3	4	0	0	9
GATA3	0	3	6	0	0	9
MYC	0	3	6	0	0	9
NRAS	9	0	0	0	0	9
ALK	1	2	5	0	0	8
EP300	1	2	5	0	0	8
ESR1	4	1	3	0	0	8
NF2	1	7	0	0	0	8
SPOP	1	5	2	0	0	8
TGFBR2	0	5	3	0	0	8
BRCA1	2	2	3	0	0	7
ERBB3	2	2	3	0	0	7
LRP1B	0	6	1	0	0	7
PBRM1	1	6	0	0	0	7
IDH1	5	0	1	0	0	6
STAG2	0	5	1	0	0	6
AR	1	3	1	0	0	5
ARID1B	0	4	1	0	0	5
ASXL1	1	4	0	0	0	5
CDK12	0	3	2	0	0	5
DICER1	2	2	1	0	0	5
FGFR3	3	0	2	0	0	5
ID3	0	3	2	0	0	5
JAK3	0	0	5	0	0	5
KDR	0	0	5	0	0	5
KEAP1	0	2	3	0	0	5
KLF2	0	2	3	0	0	5
LZTR1	0	3	2	0	0	5
MAP2K1	1	4	0	0	0	5
MTOR	0	3	2	0	0	5
NOTCH2	0	3	2	0	0	5
POLE	0	4	1	0	0	5
PTCH1	0	4	1	0	0	5
PTPRT	0	5	0	0	0	5
RET	0	1	4	0	0	5
RHOA	1	3	1	0	0	5
SMARCB1	0	2	3	0	0	5
SOCS1	0	1	4	0	0	5
TET2	0	4	1	0	0	5
TNFAIP3	0	4	1	0	0	5
TNFRSF14	0	4	1	0	0	5
ARID2	0	4	0	0	0	4
BARD1	0	2	2	0	0	4
BRIP1	1	0	3	0	0	4
CARD11	0	3	1	0	0	4
ETV6	0	1	3	0	0	4
FAS	0	1	3	0	0	4
FAT4	0	2	2	0	0	4
FGFR4	1	1	2	0	0	4
MSH2	2	2	0	0	0	4
NFE2L2	0	4	0	0	0	4
PTPN11	1	2	1	0	0	4
RNF43	0	4	0	0	0	4
SMAD3	1	2	1	0	0	4
SMARCA1	0	0	4	0	0	4
SOX9	0	0	4	0	0	4
STAT3	3	1	0	0	0	4
TSC2	0	1	3	0	0	4
AKT1	1	2	0	0	0	3
ATR	0	1	2	0	0	3
BCL2, LOC130062676	0	0	3	0	0	3
BMPR1A	0	2	1	0	0	3
CD79B, GH-LCR	0	2	1	0	0	3
CDKN1A	0	3	0	0	0	3
CHEK2	0	1	2	0	0	3
DNMT3A	3	0	0	0	0	3
EPHA3	0	0	3	0	0	3
EZH2	1	2	0	0	0	3
GNA13	0	0	3	0	0	3
GNAS	2	0	1	0	0	3
HRAS, LRRC56	3	0	0	0	0	3
IDH2	2	1	0	0	0	3
LOC110806263, TERT	3	0	0	0	0	3
MAX	0	1	2	0	0	3
MEN1	0	1	2	0	0	3
MLH1	0	2	1	0	0	3
NOTCH3	0	0	3	0	0	3
PDGFRA	2	1	0	0	0	3
PIK3CB	0	2	1	0	0	3
POLD1	0	0	3	0	0	3
PPP2R1A	0	1	2	0	0	3
RAD51B	0	0	3	0	0	3
RBM10	0	3	0	0	0	3
REV3L	0	0	3	0	0	3
SDHA	0	2	1	0	0	3
SETD1B	0	2	1	0	0	3
SF3B1	2	0	1	0	0	3
STAT6	0	2	1	0	0	3
TSC1	0	2	1	0	0	3
AMER1	0	2	0	0	0	2
AR, LOC109504725	0	0	2	0	0	2
BCL2	0	0	2	0	0	2
BCL7A, LOC130009021	0	2	0	0	0	2
BCOR	0	2	0	0	0	2
BIRC3	0	2	0	0	0	2
BTK	0	1	1	0	0	2
CBFB	0	1	1	0	0	2
CCND1	0	0	2	0	0	2
CCND3	0	0	2	0	0	2
CDK12, LOC126862553	0	2	0	0	0	2
CDKN1B	0	1	1	0	0	2
CXCR4	0	2	0	0	0	2
DTX1	0	1	1	0	0	2
EBF1	0	2	0	0	0	2
ERCC2	0	2	0	0	0	2
FANCI	0	0	2	0	0	2
FAT1, LOC126807255	0	2	0	0	0	2
FGFR1	2	0	0	0	0	2
FLCN	2	0	0	0	0	2
FOXA1	0	0	2	0	0	2
FOXO1	0	0	2	0	0	2
GATA2	0	1	1	0	0	2
GNA11	1	0	1	0	0	2
GNAQ	1	0	1	0	0	2
GRIN2A	0	1	1	0	0	2
HGF	0	0	2	0	0	2
HNF1A	0	2	0	0	0	2
INPP4A	0	2	0	0	0	2
KIT	0	1	1	0	0	2
KLHL14	0	0	2	0	0	2
KLHL6	0	0	2	0	0	2
KMT2B	0	2	0	0	0	2
LOC126859807, TNFAIP3	0	2	0	0	0	2
MAP2K4	1	1	0	0	0	2
MLH3	0	1	1	0	0	2
MSH3	0	2	0	0	0	2
MSH6	0	1	1	0	0	2
MYD88	1	0	1	0	0	2
NTRK3	0	0	2	0	0	2
PIK3CG	0	0	2	0	0	2
PPARG	0	1	1	0	0	2
PREX2	0	1	1	0	0	2
PRKDC	0	2	0	0	0	2
PTPRD	0	1	1	0	0	2
RAD50	0	1	1	0	0	2
ROS1	0	0	2	0	0	2
RUNX1	1	1	0	0	0	2
S1PR2	0	0	2	0	0	2
TBL1XR1	0	1	1	0	0	2
TBX3	0	0	2	0	0	2
ZFHX3	0	2	0	0	0	2
ACTB	0	0	1	0	0	1
ACTG1	0	0	1	0	0	1
ACVR1	0	0	1	0	0	1
AKT2	0	1	0	0	0	1
AKT3	0	1	0	0	0	1
ASXL2	0	0	1	0	0	1
ATP7B	0	0	1	0	0	1
AXIN1	0	0	1	0	0	1
AXIN2	0	1	0	0	0	1
BCL10	0	1	0	0	0	1
BCL6	0	0	1	0	0	1
BCORL1	0	0	1	0	0	1
BIVM-ERCC5, ERCC5	0	1	0	0	0	1
BORCS8-MEF2B, MEF2B	0	0	1	0	0	1
BRCA1, LOC126862571	0	1	0	0	0	1
BTG1	0	0	1	0	0	1
BTG2	0	1	0	0	0	1
CASP8	0	1	0	0	0	1
CBFB, LOC130059175	0	1	0	0	0	1
CBL	0	0	1	0	0	1
CCNE1	0	0	1	0	0	1
CCNH, RASA1	0	1	0	0	0	1
CD274, INCR1	0	0	1	0	0	1
CD58, LOC129931274	0	1	0	0	0	1
CD70	0	0	1	0	0	1
CDKN2B	0	0	0	0	1	1
CDKN2C	0	1	0	0	0	1
CSF3R	1	0	0	0	0	1
CTCF	0	1	0	0	0	1
CTNNB1	0	1	0	0	0	1
CYLD	0	1	0	0	0	1
DDX3X	0	0	1	0	0	1
DIS3	0	0	1	0	0	1
DNMT1	0	0	1	0	0	1
EBF1, LOC129995155	0	1	0	0	0	1
EED	0	1	0	0	0	1
EGFR, LOC126860048	0	0	1	0	0	1
EGLN2, RAB4B-EGLN2	0	0	1	0	0	1
EGR2	0	0	1	0	0	1
EIF1AX	0	1	0	0	0	1
ERCC3	0	1	0	0	0	1
ERCC4	0	1	0	0	0	1
ETV6, LOC126861452	0	1	0	0	0	1
FANCA	0	1	0	0	0	1
FANCC	0	1	0	0	0	1
FANCD2, LOC107303338	0	1	0	0	0	1
FANCF, LOC130005443	0	0	1	0	0	1
FANCL	0	1	0	0	0	1
FANCL, VRK2	0	0	1	0	0	1
FAT1, LOC126807254	0	0	1	0	0	1
FGF16	0	0	1	0	0	1
FGF21, LOC109279247	0	0	1	0	0	1
FLT3	0	0	0	0	1	1
FLT4	0	0	1	0	0	1
FUBP1	0	0	1	0	0	1
GNAI2	0	0	1	0	0	1
H3-3A	0	1	0	0	0	1
H3-3B	0	0	1	0	0	1
H3C2	0	1	0	0	0	1
HNRNPK	0	0	1	0	0	1
IGF1R	0	0	1	0	0	1
IKZF1	0	1	0	0	0	1
IL7R	0	0	1	0	0	1
INO80	0	0	1	0	0	1
INSL6, JAK2	0	0	1	0	0	1
IRF8	0	1	0	0	0	1
IRS4	0	0	1	0	0	1
KDM5C	0	1	0	0	0	1
KMT2A	0	1	0	0	0	1
KMT2D, LOC126861520	0	1	0	0	0	1
LATS1	0	1	0	0	0	1
LOC100507346, PTCH1	0	1	0	0	0	1
LOC111811965, MIR4733HG, NF1	0	0	1	0	0	1
LOC114803475, PPARG	0	0	1	0	0	1
LOC126806878, TBL1XR1	0	0	1	0	0	1
LOC126860346, NRG1	0	1	0	0	0	1
LOC126862483, TP53, WRAP53	0	0	1	0	0	1
LOC126863252, RBM10	0	1	0	0	0	1
LOC129936413, OSBPL10	0	0	1	0	0	1
LOC129996315, PIM1	0	0	1	0	0	1
LOC130002133, PTCH1	0	1	0	0	0	1
LOC130055850, MAX	0	0	1	0	0	1
LOC130067016, LZTR1	0	1	0	0	0	1
LTB	0	0	1	0	0	1
LYN	0	0	1	0	0	1
MAPK1	0	1	0	0	0	1
MAPK3	0	0	1	0	0	1
MFSD11, SRSF2	1	0	0	0	0	1
MGA	0	1	0	0	0	1
MRE11	0	1	0	0	0	1
MUTYH	0	0	1	0	0	1
MYCN, MYCNOS	0	1	0	0	0	1
NBN	0	1	0	0	0	1
NFKBIA	0	1	0	0	0	1
NFKBIE	0	1	0	0	0	1
NSD1	0	1	0	0	0	1
NTRK1	0	0	1	0	0	1
NTRK2	0	0	1	0	0	1
PALB2	0	1	0	0	0	1
PCM1	0	0	1	0	0	1
PDGFRB	0	0	1	0	0	1
PIM1	0	0	1	0	0	1
PMS2	0	1	0	0	0	1
POT1	1	0	0	0	0	1
PRDM1	0	0	1	0	0	1
PTPN1	0	0	1	0	0	1
PTPN6	0	0	1	0	0	1
PTPRS	0	1	0	0	0	1
RAC1	0	1	0	0	0	1
RAD17	0	1	0	0	0	1
RAD21	0	1	0	0	0	1
RAD50, TH2-LCR, TH2LCRR	0	0	1	0	0	1
RAD51C	0	1	0	0	0	1
RAD51D, RAD51L3-RFFL	0	0	1	0	0	1
RAD52	0	0	1	0	0	1
RANBP2	0	1	0	0	0	1
RARA	0	0	1	0	0	1
RHOH	0	0	1	0	0	1
RICTOR	0	0	1	0	0	1
RIT1	0	1	0	0	0	1
SAMHD1	0	0	1	0	0	1
SETD5	0	1	0	0	0	1
SMAD2	0	1	0	0	0	1
SMO	0	1	0	0	0	1
SPEN	0	1	0	0	0	1
STAT5B	1	0	0	0	0	1
SUZ12	0	1	0	0	0	1
TCF7L2	0	0	0	1	0	1
TENM4	0	0	1	0	0	1
TERF2IP	0	0	1	0	0	1
TGFBR1	0	0	1	0	0	1
TMSB4X	0	0	1	0	0	1
TRAF2	0	1	0	0	0	1
TRAF3	0	1	0	0	0	1
TRAF7	0	0	1	0	0	1
U2AF1	1	0	0	0	0	1
USP7	0	1	0	0	0	1
VAV1	0	0	1	0	0	1
XBP1	0	0	1	0	0	1
XPO1	0	1	0	0	0	1
ZEB2	0	0	1	0	0	1

Submitter and significance breakdown #

Total submitters: 2

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Submitter	pathogenic	likely pathogenic	uncertain significance	likely benign	benign	total
Center for Genomic Medicine, Rigshospitalet, Copenhagen University Hospital	346	912	449	4	4	1715
Institute of Human Genetics, University of Wuerzburg	2	0	0	0	0	2

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