CPSR superpanel (v3.0)¶
We have aggregated data from multiple sources to compile an exploratory track of n = 433 genes with associations to cancer predisposition/cancer syndromes:
- TCGA_PANCAN_18 - TCGCA Pancancer germline study - Huang et al, Cell, 2018
- CGC_94 - Curated list - Cancer Gene Census (COSMIC) - version 94
- NCGC - Expert-curated list from Norwegian Cancer Genomics Consortium
- PANEL_APP - knowledge base of virtual gene panels related to human disorders - all unique genes from 42 panels linked to inherited cancers and cancer susceptibility
- OTHER - Other potential cancer-relevant genes, as contributed by the CPSR user community
Data with respect to mechanisms of inheritance (MoI - autosomal recessive (AR) vs. autosomal dominant (AD) etc.) and whether mechanisms of disease are associated with loss-of-function (LoF) or gain-of-function (GoF) were primarily retrieved from Maxwell et al., Am J Hum Genet, 2016, and Genomics England PanelApp
We want to make it explicit that this lis by no means regarded as an international consensus, but should rather be subject to continuous update by the international community that carry expertise on genetic risk factors for cancer.
Do you miss other genes of relevance for cancer predisposition/inherited tumor syndromes? Please forward a list of gene identifiers, preferably also with mode of inheritance and literature support to sigven AT ifi.uio.no, so we can include them in Panel 0.
Download the complete set of CPSR superpanel genes, grch37/grch38 versions (xlsx)
| n o | gene_link | e n t r e z g e n e | e n s e m b l _ g e n e _ i d | m o i | m o d | gene_name | s ource | ph enotype_syndrome_term |
|---|---|---|---|---|---|---|---|---|
| 1 | ABCB11 | 8 6 4 7 | E N S G 0 0 0 0 0 0 7 3 7 3 4 | A R | L o F | ATP binding cassette subfamily B member 11 | T CGA_P ANCAN _2018 | Crigler-Najjar syndrome, type II |
| 2 | ABL1 | 2 5 | E N S G 0 0 0 0 0 0 9 7 0 0 7 | N A | N A | ABL p roto-oncogene 1, non-receptor tyrosine kinase | OTHER | NA |
| 3 | ABL2 | 2 7 | E N S G 0 0 0 0 0 1 4 3 3 2 2 | N A | N A | ABL p roto-oncogene 2, non-receptor tyrosine kinase | OTHER | NA |
| 4 | ABRAXAS1 | 8 4 1 4 2 | E N S G 0 0 0 0 0 1 6 3 3 2 2 | N A | N A | abraxas 1, BRCA1 A complex subunit | NCGC | NA |
| 5 | ACD | 6 5 0 5 7 | E N S G 0 0 0 0 0 1 0 2 9 7 7 | A D / A R | N A | ACD shelterin complex subunit and telomerase recruitment factor | NCGC ,PANE L_APP | NA |
| 6 | ACTRT1 | 1 3 9 7 4 1 | E N S G 0 0 0 0 0 1 2 3 1 6 5 | A D | N A | actin related protein T1 | PANE L_APP | NA |
| 7 | ADM | 1 3 3 | E N S G 0 0 0 0 0 1 4 8 9 2 6 | N A | N A | a drenomedullin | PANE L_APP | NA |
| 8 | AIP | 9 0 4 9 | E N S G 0 0 0 0 0 1 1 0 7 1 1 | A D | L o F | aryl hydrocarbon receptor interacting protein | NCGC ,PANE L_APP | NA |
| 9 | AKT1 | 2 0 7 | E N S G 0 0 0 0 0 1 4 2 2 0 8 | A D | G o F | AKT ser ine/threonine kinase 1 | NCGC ,PANE L_APP | NA |
| 1 0 | ALK | 2 3 8 | E N S G 0 0 0 0 0 1 7 1 0 9 4 | A D | G o F | ALK receptor tyrosine kinase | CGC _94,N CGC,P ANEL_ APP,T CGA_P ANCAN _2018 | Neuroblastoma |
| 1 1 | AMER1 | 1 3 9 2 8 5 | E N S G 0 0 0 0 0 1 8 4 6 7 5 | N A | N A | APC membrane recruitment protein 1 | OTHER | NA |
| 1 2 | ANKRD26 | 2 2 8 5 2 | E N S G 0 0 0 0 0 1 0 7 8 9 0 | A D | N A | ankyrin repeat domain 26 | PANE L_APP | NA |
| 1 3 | APC | 3 2 4 | E N S G 0 0 0 0 0 1 3 4 9 8 2 | A D / A R | L o F | APC regulator of WNT signaling pathway | ACM G_SF3 0,CGC _94,N CGC,P ANEL_ APP,T CGA_P ANCAN _2018 | Familial multiple polyposis syndrome; Familial adenomatous polyposis 1 |
| 1 4 | APOBEC3B | 9 5 8 2 | E N S G 0 0 0 0 0 1 7 9 7 5 0 | A R | N A | a polipoprotein B mRNA editing enzyme catalytic subunit 3B | C GC_94 | NA |
| 1 5 | AR | 3 6 7 | E N S G 0 0 0 0 0 1 6 9 0 8 3 | A D | N A | androgen receptor | C GC_94 ,PANE L_APP | NA |
| 1 6 | ARHGEF12 | 2 3 3 6 5 | E N S G 0 0 0 0 0 1 9 6 9 1 4 | N A | N A | Rho guanine nucleotide exchange factor 12 | OTHER | NA |
| 1 7 | ARID1A | 8 2 8 9 | E N S G 0 0 0 0 0 1 1 7 7 1 3 | A D | N A | AT-rich interaction domain 1A | OTHER | NA |
| 1 8 | ARID2 | 1 9 6 5 2 8 | E N S G 0 0 0 0 0 1 8 9 0 7 9 | A D | N A | AT-rich interaction domain 2 | OTHER | NA |
| 1 9 | ARID5B | 8 4 1 5 9 | E N S G 0 0 0 0 0 1 5 0 3 4 7 | N A | N A | AT-rich interaction domain 5B | OTHER | NA |
| 2 0 | ARMC5 | 7 9 7 9 8 | E N S G 0 0 0 0 0 1 4 0 6 9 1 | A D | N A | armadillo repeat containing 5 | OTHER | NA |
| 2 1 | ASXL1 | 1 7 1 0 2 3 | E N S G 0 0 0 0 0 1 7 1 4 5 6 | N A | N A | ASXL tr anscriptional regulator 1 | OTHER | NA |
| 2 2 | ATM | 4 7 2 | E N S G 0 0 0 0 0 1 4 9 3 1 1 | A D / A R | L o F | ATM ser ine/threonine kinase | CGC _94,N CGC,P ANEL_ APP,T CGA_P ANCAN _2018 | Ataxia-telangiectasia syndrome |
| 2 3 | ATR | 5 4 5 | E N S G 0 0 0 0 0 1 7 5 0 5 4 | A D | L o F | ATR ser ine/threonine kinase | CGC _94,P ANEL_ APP,T CGA_P ANCAN _2018 | Seckel syndrome; Cutaneous telangiectasia and cancer syndrome, familial |
| 2 4 | ATRX | 5 4 6 | E N S G 0 0 0 0 0 0 8 5 2 2 4 | N A | N A | ATRX chromatin remodeler | OTHER | NA |
| 2 5 | AXIN1 | 8 3 1 2 | E N S G 0 0 0 0 0 1 0 3 1 2 6 | N A | N A | axin 1 | NCGC | NA |
| 2 6 | AXIN2 | 8 3 1 3 | E N S G 0 0 0 0 0 1 6 8 6 4 6 | A D / A R | L o F | axin 2 | CGC _94,N CGC,T CGA_P ANCAN _2018 | O ligodontia-colorectal cancer syndrome |
| 2 7 | BAP1 | 8 3 1 4 | E N S G 0 0 0 0 0 1 6 3 9 3 0 | A D / A R | L o F | BRCA1 associated protein 1 | CGC _94,N CGC,P ANEL_ APP,T CGA_P ANCAN _2018 | Tumor susceptibility linked to germline BAP1 mutations; BAP1 Cancer Syndrome |
| 2 8 | BARD1 | 5 8 0 | E N S G 0 0 0 0 0 1 3 8 3 7 6 | A R | L o F | BRCA1 associated RING domain 1 | C GC_94 ,NCGC ,PANE L_APP | NA |
| 2 9 | BCL10 | 8 9 1 5 | E N S G 0 0 0 0 0 1 4 2 8 6 7 | A R | N A | BCL10 immune signaling adaptor | OTHER | NA |
| 3 0 | BCR | 6 1 3 | E N S G 0 0 0 0 0 1 8 6 7 1 6 | N A | N A | BCR activator of RhoGEF and GTPase | OTHER | NA |
| 3 1 | BLM | 6 4 1 | E N S G 0 0 0 0 0 1 9 7 2 9 9 | A R | L o F | BLM RecQ like helicase | CGC _94,N CGC,P ANEL_ APP,T CGA_P ANCAN _2018 | Bloom syndrome |
| 3 2 | BMPR1A | 6 5 7 | E N S G 0 0 0 0 0 1 0 7 7 7 9 | A D / A R | L o F | bone morphogenetic protein receptor type 1A | ACM G_SF3 0,CGC _94,N CGC,P ANEL_ APP,T CGA_P ANCAN _2018 | Juvenile polyposis syndrome |
| 3 3 | BRAF | 6 7 3 | E N S G 0 0 0 0 0 1 5 7 7 6 4 | A D | N A | B-Raf pr oto-oncogene, ser ine/threonine kinase | P ANEL_ APP,T CGA_P ANCAN _2018 | Noonan syndrome 7; LEOPARD syndrome 3 |
| 3 4 | BRCA1 | 6 7 2 | E N S G 0 0 0 0 0 0 1 2 0 4 8 | A D / A R | L o F | BRCA1 DNA repair associated | ACM G_SF3 0,CGC _94,N CGC,P ANEL_ APP,T CGA_P ANCAN _2018 | Hereditary breast and ovarian cancer syndrome |
| 3 5 | BRCA2 | 6 7 5 | E N S G 0 0 0 0 0 1 3 9 6 1 8 | A D / A R | L o F | BRCA2 DNA repair associated | ACM G_SF3 0,CGC _94,N CGC,P ANEL_ APP,T CGA_P ANCAN _2018 | Hereditary breast and ovarian cancer syndrome; Fanconi anemia, complementation group D1 |
| 3 6 | BRIP1 | 8 3 9 9 0 | E N S G 0 0 0 0 0 1 3 6 4 9 2 | A D / A R | L o F | BRCA1 interacting helicase 1 | CGC _94,N CGC,P ANEL_ APP,T CGA_P ANCAN _2018 | Fanconi anemia, complementation group J |
| 3 7 | BTK | 6 9 5 | E N S G 0 0 0 0 0 0 1 0 6 7 1 | X L R | N A | Bruton tyrosine kinase | OTHER | NA |
| 3 8 | BUB1 | 6 9 9 | E N S G 0 0 0 0 0 1 6 9 6 7 9 | N A | N A | BUB1 mitotic checkpoint ser ine/threonine kinase | NCGC | NA |
| 3 9 | BUB1B | 7 0 1 | E N S G 0 0 0 0 0 1 5 6 9 7 0 | A R | L o F | BUB1 mitotic checkpoint ser ine/threonine kinase B | CGC _94,N CGC,P ANEL_ APP,T CGA_P ANCAN _2018 | Mosaic variegated aneuploidy syndrome 1 |
| 4 0 | BUB3 | 9 1 8 4 | E N S G 0 0 0 0 0 1 5 4 4 7 3 | N A | N A | BUB3 mitotic checkpoint protein | OTHER | NA |
| 4 1 | CAMTA1 | 2 3 2 6 1 | E N S G 0 0 0 0 0 1 7 1 7 3 5 | N A | N A | calmodulin binding transcription activator 1 | OTHER | NA |
| 4 2 | CASP8 | 8 4 1 | E N S G 0 0 0 0 0 0 6 4 0 1 2 | A D | N A | caspase 8 | OTHER | NA |
| 4 3 | CASR | 8 4 6 | E N S G 0 0 0 0 0 0 3 6 8 2 8 | N A | N A | calcium sensing receptor | NCGC ,PANE L_APP | NA |
| 4 4 | CBFA2T3 | 8 6 3 | E N S G 0 0 0 0 0 1 2 9 9 9 3 | N A | N A | CBFA2/RUNX1 partner tr anscriptional co-repressor 3 | OTHER | NA |
| 4 5 | CBL | 8 6 7 | E N S G 0 0 0 0 0 1 1 0 3 9 5 | A D | L o F | Cbl p roto-oncogene | P ANEL_ APP,T CGA_P ANCAN _2018 | Noonan syndrome |
| 4 6 | CDC73 | 7 9 5 7 7 | E N S G 0 0 0 0 0 1 3 4 3 7 1 | A D / A R | L o F | cell division cycle 73 | CGC _94,N CGC,P ANEL_ APP,T CGA_P ANCAN _2018 | Hyperparathyroidism 2 |
| 4 7 | CDH1 | 9 9 9 | E N S G 0 0 0 0 0 0 3 9 0 6 8 | A D / A R | L o F | cadherin 1 | CGC _94,N CGC,P ANEL_ APP,T CGA_P ANCAN _2018 | Hereditary diffuse gastric cancer |
| 4 8 | CDH10 | 1 0 0 8 | E N S G 0 0 0 0 0 0 4 0 7 3 1 | N A | N A | cadherin 10 | C GC_94 | NA |
| 4 9 | CDH11 | 1 0 0 9 | E N S G 0 0 0 0 0 1 4 0 9 3 7 | N A | N A | cadherin 11 | OTHER | NA |
| 5 0 | CDK4 | 1 0 1 9 | E N S G 0 0 0 0 0 1 3 5 4 4 6 | A D | G o F | cyclin dependent kinase 4 | CGC _94,N CGC,P ANEL_ APP,T CGA_P ANCAN _2018 | Hereditary melanoma; Cutaneous malignant melanoma 3 |
| 5 1 | CDKN1A | 1 0 2 6 | E N S G 0 0 0 0 0 1 2 4 7 6 2 | N A | N A | cyclin dependent kinase inhibitor 1A | OTHER | NA |
| 5 2 | CDKN1B | 1 0 2 7 | E N S G 0 0 0 0 0 1 1 1 2 7 6 | A D / A R | L o F | cyclin dependent kinase inhibitor 1B | CGC _94,N CGC,P ANEL_ APP,T CGA_P ANCAN _2018 | Multiple endocrine neoplasia, type 4 |
| 5 3 | CDKN1C | 1 0 2 8 | E N S G 0 0 0 0 0 1 2 9 7 5 7 | A D | L o F | cyclin dependent kinase inhibitor 1C | N CGC,P ANEL_ APP,T CGA_P ANCAN _2018 | Beckwith-Wiedemann syndrome |
| 5 4 | CDKN2A | 1 0 2 9 | E N S G 0 0 0 0 0 1 4 7 8 8 9 | A D / A R | L o F | cyclin dependent kinase inhibitor 2A | CGC _94,N CGC,P ANEL_ APP,T CGA_P ANCAN _2018 | Hereditary melanoma |
| 5 5 | CDKN2B | 1 0 3 0 | E N S G 0 0 0 0 0 1 4 7 8 8 3 | A D | N A | cyclin dependent kinase inhibitor 2B | PANE L_APP | NA |
| 5 6 | CDKN2C | 1 0 3 1 | E N S G 0 0 0 0 0 1 2 3 0 8 0 | N A | N A | cyclin dependent kinase inhibitor 2C | OTHER | NA |
| 5 7 | CEBPA | 1 0 5 0 | E N S G 0 0 0 0 0 2 4 5 8 4 8 | A D | L o F | CCAAT enhancer binding protein alpha | N CGC,P ANEL_ APP,T CGA_P ANCAN _2018 | Acute myeloid leukemia |
| 5 8 | CEBPE | 1 0 5 3 | E N S G 0 0 0 0 0 0 9 2 0 6 7 | A R | N A | CCAAT enhancer binding protein epsilon | OTHER | NA |
| 5 9 | CENPJ | 5 5 8 3 5 | E N S G 0 0 0 0 0 1 5 1 8 4 9 | N A | N A | centromere protein J | OTHER | NA |
| 6 0 | CEP57 | 9 7 0 2 | E N S G 0 0 0 0 0 1 6 6 0 3 7 | A R | L o F | centrosomal protein 57 | NCGC | NA |
| 6 1 | CHEK1 | 1 1 1 1 | E N S G 0 0 0 0 0 1 4 9 5 5 4 | N A | N A | checkpoint kinase 1 | NCGC | NA |
| 6 2 | CHEK2 | 1 1 2 0 0 | E N S G 0 0 0 0 0 1 8 3 7 6 5 | A D / A R | L o F | checkpoint kinase 2 | CGC _94,N CGC,P ANEL_ APP,T CGA_P ANCAN _2018 | Familial cancer of breast |
| 6 3 | CIB1 | 1 0 5 1 9 | E N S G 0 0 0 0 0 1 8 5 0 4 3 | A R | N A | calcium and integrin binding 1 | PANE L_APP | NA |
| 6 4 | COL7A1 | 1 2 9 4 | E N S G 0 0 0 0 0 1 1 4 2 7 0 | A D / A R | L o F | collagen type VII alpha 1 chain | T CGA_P ANCAN _2018 | Epidermolysis bullosa |
| 6 5 | CREBBP | 1 3 8 7 | E N S G 0 0 0 0 0 0 0 5 3 3 9 | A D | N A | CREB binding protein | PANE L_APP | NA |
| 6 6 | CSF3R | 1 4 4 1 | E N S G 0 0 0 0 0 1 1 9 5 3 5 | A D | N A | colony stimulating factor 3 receptor | PANE L_APP | NA |
| 6 7 | CTC1 | 8 0 1 6 9 | E N S G 0 0 0 0 0 1 7 8 9 7 1 | A R | N A | CST telomere replication complex component 1 | PANE L_APP | NA |
| 6 8 | CTNNA1 | 1 4 9 5 | E N S G 0 0 0 0 0 0 4 4 1 1 5 | A D | L o F | catenin alpha 1 | NCGC, OTHER | NA |
| 6 9 | CTNNB1 | 1 4 9 9 | E N S G 0 0 0 0 0 1 6 8 0 3 6 | A D | N A | catenin beta 1 | NCGC ,PANE L_APP | NA |
| 7 0 | CTR9 | 9 6 4 6 | E N S G 0 0 0 0 0 1 9 8 7 3 0 | A D | N A | CTR9 homolog, Paf1/RNA polymerase II complex component | P ANEL_ APP,T CGA_P ANCAN _2018 | NA |
| 7 1 | CTRC | 1 1 3 3 0 | E N S G 0 0 0 0 0 1 6 2 4 3 8 | N A | N A | chymotrypsin C | NCGC | NA |
| 7 2 | CXCR4 | 7 8 5 2 | E N S G 0 0 0 0 0 1 2 1 9 6 6 | A D | N A | C-X-C motif chemokine receptor 4 | C GC_94 | NA |
| 7 3 | CYLD | 1 5 4 0 | E N S G 0 0 0 0 0 0 8 3 7 9 9 | A D / A R | L o F | CYLD lysine 63 d eubiquitinase | CGC _94,N CGC,P ANEL_ APP,T CGA_P ANCAN _2018 | Brooke-Spiegler syndrome |
| 7 4 | DDB2 | 1 6 4 3 | E N S G 0 0 0 0 0 1 3 4 5 7 4 | A D / A R | L o F | damage specific DNA binding protein 2 | CGC _94,N CGC,P ANEL_ APP,T CGA_P ANCAN _2018 | Xeroderma pigmentosum, group E |
| 7 5 | DDX11 | 1 6 6 3 | E N S G 0 0 0 0 0 0 1 3 5 7 3 | A R | N A | DEAD/H-box helicase 11 | OTHER | NA |
| 7 6 | DDX41 | 5 1 4 2 8 | E N S G 0 0 0 0 0 1 8 3 2 5 8 | A D | N A | DEAD-box helicase 41 | PANE L_APP | NA |
| 7 7 | DGCR8 | 5 4 4 8 7 | E N S G 0 0 0 0 0 1 2 8 1 9 1 | A D | N A | DGCR8 m icroprocessor complex subunit | PANE L_APP | NA |
| 7 8 | DHCR7 | 1 7 1 7 | E N S G 0 0 0 0 0 1 7 2 8 9 3 | A R | N A | 7-dehyd rocholesterol reductase | OTHER | NA |
| 7 9 | DICER1 | 2 3 4 0 5 | E N S G 0 0 0 0 0 1 0 0 6 9 7 | A D / A R | L o F | dicer 1, ribonuclease III | CGC _94,N CGC,P ANEL_ APP,T CGA_P ANCAN _2018 | Pleuropulmonary blastoma; DICER1-related pleuropulmonary blastoma cancer predisposition syndrome |
| 8 0 | DIRAS3 | 9 0 7 7 | E N S G 0 0 0 0 0 1 6 2 5 9 5 | N A | N A | DIRAS family GTPase 3 | NCGC ,PANE L_APP | NA |
| 8 1 | DIS3 | 2 2 8 9 4 | E N S G 0 0 0 0 0 0 8 3 5 2 0 | N A | N A | DIS3 homolog, exosome end oribonuclease and 3’-5’ ex oribonuclease | OTHER | NA |
| 8 2 | DIS3L | 1 1 5 7 5 2 | E N S G 0 0 0 0 0 1 6 6 9 3 8 | A R | N A | DIS3 like exosome 3’-5’ ex oribonuclease | OTHER | NA |
| 8 3 | DIS3L2 | 1 2 9 5 6 3 | E N S G 0 0 0 0 0 1 4 4 5 3 5 | A R | L o F | DIS3 like 3’-5’ ex oribonuclease 2 | N CGC,P ANEL_ APP,T CGA_P ANCAN _2018 | Perlman syndrome |
| 8 4 | DKC1 | 1 7 3 6 | E N S G 0 0 0 0 0 1 3 0 8 2 6 | N A | L o F | dyskerin pseudouridine synthase 1 | P ANEL_ APP,T CGA_P ANCAN _2018 | Dyskeratosis congenita, X-linked |
| 8 5 | DNAJC21 | 1 3 4 2 1 8 | E N S G 0 0 0 0 0 1 6 8 7 2 4 | A R | N A | DnaJ heat shock protein family (Hsp40) member C21 | PANE L_APP | NA |
| 8 6 | DOCK8 | 8 1 7 0 4 | E N S G 0 0 0 0 0 1 0 7 0 9 9 | A R | L o F | dedicator of cytokinesis 8 | P ANEL_ APP,T CGA_P ANCAN _2018 | Hyper-Immunoglobulin E Syndrome, Autosomal Recessive |
| 8 7 | DROSHA | 2 9 1 0 2 | E N S G 0 0 0 0 0 1 1 3 3 6 0 | A D | N A | drosha ribonuclease III | T CGA_P ANCAN _2018 | NA |
| 8 8 | DTX3L | 1 5 1 6 3 6 | E N S G 0 0 0 0 0 1 6 3 8 4 0 | N A | N A | deltex E3 ubiquitin ligase 3L | NCGC | NA |
| 8 9 | EGFR | 1 9 5 6 | E N S G 0 0 0 0 0 1 4 6 6 4 8 | A D | G o F | epidermal growth factor receptor | CGC _94,N CGC,T CGA_P ANCAN _2018 | NA |
| 9 0 | ELAC2 | 6 0 5 2 8 | E N S G 0 0 0 0 0 0 0 6 7 4 4 | N A | N A | elaC ribonuclease Z 2 | PANE L_APP | NA |
| 9 1 | ELANE | 1 9 9 1 | E N S G 0 0 0 0 0 1 9 7 5 6 1 | A D | L o F | elastase, neutrophil expressed | P ANEL_ APP,T CGA_P ANCAN _2018 | Neutropenia, severe congenital 1, autosomal dominant |
| 9 2 | ELP1 | 8 5 1 8 | E N S G 0 0 0 0 0 0 7 0 0 6 1 | A D | N A | elongator acet yltransferase complex subunit 1 | PANE L_APP | NA |
| 9 3 | ENG | 2 0 2 2 | E N S G 0 0 0 0 0 1 0 6 9 9 1 | A D | N A | endoglin | ACMG _SF30 ,NCGC ,PANE L_APP | Hereditary hemorrhagic telangiectasia |
| 9 4 | EP300 | 2 0 3 3 | E N S G 0 0 0 0 0 1 0 0 3 9 3 | A D | N A | E1A binding protein p300 | OTHER | NA |
| 9 5 | EPAS1 | 2 0 3 4 | E N S G 0 0 0 0 0 1 1 6 0 1 6 | N A | N A | endothelial PAS domain protein 1 | OTHER | NA |
| 9 6 | EPCAM | 4 0 7 2 | E N S G 0 0 0 0 0 1 1 9 8 8 8 | A D | L o F | epithelial cell adhesion molecule | N CGC,P ANEL_ APP,T CGA_P ANCAN _2018 | Hereditary nonpolyposis colorectal cancer type 8 |
| 9 7 | ERBB2 | 2 0 6 4 | E N S G 0 0 0 0 0 1 4 1 7 3 6 | N A | N A | erb-b2 receptor tyrosine kinase 2 | OTHER | NA |
| 9 8 | ERBB4 | 2 0 6 6 | E N S G 0 0 0 0 0 1 7 8 5 6 8 | A D | N A | erb-b2 receptor tyrosine kinase 4 | C GC_94 | NA |
| 9 9 | ERCC1 | 2 0 6 7 | E N S G 0 0 0 0 0 0 1 2 0 6 1 | A R | N A | ERCC excision repair 1, endonuclease non-catalytic subunit | N CGC,P ANEL_ APP,T CGA_P ANCAN _2018 | Cere brooculofacioskeletal syndrome 4 |
| 1 0 0 | ERCC2 | 2 0 6 8 | E N S G 0 0 0 0 0 1 0 4 8 8 4 | A R | L o F | ERCC excision repair 2, TFIIH core complex helicase subunit | CGC _94,N CGC,P ANEL_ APP,T CGA_P ANCAN _2018 | Xeroderma pigmentosum, group D |
| 1 0 1 | ERCC3 | 2 0 7 1 | E N S G 0 0 0 0 0 1 6 3 1 6 1 | A R | L o F | ERCC excision repair 3, TFIIH core complex helicase subunit | CGC _94,N CGC,P ANEL_ APP,T CGA_P ANCAN _2018 | Xeroderma pigmentosum, complementation group b |
| 1 0 2 | ERCC4 | 2 0 7 2 | E N S G 0 0 0 0 0 1 7 5 5 9 5 | A R | L o F | ERCC excision repair 4, endonuclease catalytic subunit | CGC _94,N CGC,P ANEL_ APP,T CGA_P ANCAN _2018 | Xeroderma pigmentosum, group F; Fanconi anemia, complementation group Q |
| 1 0 3 | ERCC5 | 2 0 7 3 | E N S G 0 0 0 0 0 1 3 4 8 9 9 | A R | L o F | ERCC excision repair 5, endonuclease | CGC _94,N CGC,P ANEL_ APP,T CGA_P ANCAN _2018 | Xeroderma pigmentosum, group G |
| 1 0 4 | ERCC6 | 2 0 7 4 | E N S G 0 0 0 0 0 2 2 5 8 3 0 | A D / A R | N A | ERCC excision repair 6, chromatin remodeling factor | OTHER | NA |
| 1 0 5 | ERG | 2 0 7 8 | E N S G 0 0 0 0 0 1 5 7 5 5 4 | N A | N A | ETS transcription factor ERG | OTHER | NA |
| 1 0 6 | ESR1 | 2 0 9 9 | E N S G 0 0 0 0 0 0 9 1 8 3 1 | N A | N A | estrogen receptor 1 | PANE L_APP | NA |
| 1 0 7 | ETV6 | 2 1 2 0 | E N S G 0 0 0 0 0 1 3 9 0 8 3 | A D | N A | ETS variant transcription factor 6 | N CGC,P ANEL_ APP,T CGA_P ANCAN _2018 | Thrombocytopenia 5 |
| 1 0 8 | EXO1 | 9 1 5 6 | E N S G 0 0 0 0 0 1 7 4 3 7 1 | N A | N A | exonuclease 1 | OTHER | NA |
| 1 0 9 | EXT1 | 2 1 3 1 | E N S G 0 0 0 0 0 1 8 2 1 9 7 | A D / A R | L o F | exostosin glycos yltransferase 1 | CGC _94,N CGC,P ANEL_ APP,T CGA_P ANCAN _2018 | Chondrosarcoma |
| 1 1 0 | EXT2 | 2 1 3 2 | E N S G 0 0 0 0 0 1 5 1 3 4 8 | A D / A R | L o F | exostosin glycos yltransferase 2 | CGC _94,N CGC,P ANEL_ APP,T CGA_P ANCAN _2018 | Multiple exostoses type 2 |
| 1 1 1 | EZH2 | 2 1 4 6 | E N S G 0 0 0 0 0 1 0 6 4 6 2 | A D | L o F | enhancer of zeste 2 polycomb repressive complex 2 subunit | NCGC ,PANE L_APP | NA |
| 1 1 2 | FAH | 2 1 8 4 | E N S G 0 0 0 0 0 1 0 3 8 7 6 | A R | L o F | fumary lacetoacetate hydrolase | T CGA_P ANCAN _2018 | NA |
| 1 1 3 | FAN1 | 2 2 9 0 9 | E N S G 0 0 0 0 0 1 9 8 6 9 0 | N A | N A | FANCD2 and FANCI associated nuclease 1 | OTHER | NA |
| 1 1 4 | FANCA | 2 1 7 5 | E N S G 0 0 0 0 0 1 8 7 7 4 1 | A R | L o F | FA co mplementation group A | CGC _94,N CGC,P ANEL_ APP,T CGA_P ANCAN _2018 | Fanconi anemia, complementation group A |
| 1 1 5 | FANCB | 2 1 8 7 | E N S G 0 0 0 0 0 1 8 1 5 4 4 | N A | L o F | FA co mplementation group B | NCGC ,PANE L_APP | NA |
| 1 1 6 | FANCC | 2 1 7 6 | E N S G 0 0 0 0 0 1 5 8 1 6 9 | A R | L o F | FA co mplementation group C | CGC _94,N CGC,P ANEL_ APP,T CGA_P ANCAN _2018 | Fanconi anemia, complementation group C |
| 1 1 7 | FANCD2 | 2 1 7 7 | E N S G 0 0 0 0 0 1 4 4 5 5 4 | A R | L o F | FA co mplementation group D2 | CGC _94,N CGC,P ANEL_ APP,T CGA_P ANCAN _2018 | Fanconi anemia, complementation group D2 |
| 1 1 8 | FANCE | 2 1 7 8 | E N S G 0 0 0 0 0 1 1 2 0 3 9 | A R | L o F | FA co mplementation group E | CGC _94,N CGC,P ANEL_ APP,T CGA_P ANCAN _2018 | Fanconi anemia, complementation group E |
| 1 1 9 | FANCF | 2 1 8 8 | E N S G 0 0 0 0 0 1 8 3 1 6 1 | A R | L o F | FA co mplementation group F | CGC _94,N CGC,P ANEL_ APP,T CGA_P ANCAN _2018 | Fanconi anemia, complementation group F |
| 1 2 0 | FANCG | 2 1 8 9 | E N S G 0 0 0 0 0 2 2 1 8 2 9 | A R | L o F | FA co mplementation group G | CGC _94,N CGC,P ANEL_ APP,T CGA_P ANCAN _2018 | Fanconi anemia, complementation group G |
| 1 2 1 | FANCI | 5 5 2 1 5 | E N S G 0 0 0 0 0 1 4 0 5 2 5 | A R | L o F | FA co mplementation group I | N CGC,P ANEL_ APP,T CGA_P ANCAN _2018 | Fanconi anemia, complementation group I |
| 1 2 2 | FANCL | 5 5 1 2 0 | E N S G 0 0 0 0 0 1 1 5 3 9 2 | A R | L o F | FA co mplementation group L | N CGC,P ANEL_ APP,T CGA_P ANCAN _2018 | Fanconi anemia, complementation group L |
| 1 2 3 | FANCM | 5 7 6 9 7 | E N S G 0 0 0 0 0 1 8 7 7 9 0 | A D / A R | L o F | FA co mplementation group M | N CGC,P ANEL_ APP,T CGA_P ANCAN _2018 | NA |
| 1 2 4 | FAS | 3 5 5 | E N S G 0 0 0 0 0 0 2 6 1 0 3 | A D | L o F | Fas cell surface death receptor | P ANEL_ APP,T CGA_P ANCAN _2018 | Autoimmune lymphoproliferative syndrome |
| 1 2 5 | FAT1 | 2 1 9 5 | E N S G 0 0 0 0 0 0 8 3 8 5 7 | N A | N A | FAT atypical cadherin 1 | C GC_94 | NA |
| 1 2 6 | FBXW7 | 5 5 2 9 4 | E N S G 0 0 0 0 0 1 0 9 6 7 0 | N A | N A | F-box and WD repeat domain containing 7 | OTHER | NA |
| 1 2 7 | FEN1 | 2 2 3 7 | E N S G 0 0 0 0 0 1 6 8 4 9 6 | N A | N A | flap struc ture-specific endonuclease 1 | C GC_94 | NA |
| 1 2 8 | FGF23 | 8 0 7 4 | E N S G 0 0 0 0 0 1 1 8 9 7 2 | A D / A R | N A | fibroblast growth factor 23 | PANE L_APP | NA |
| 1 2 9 | FGFR1 | 2 2 6 0 | E N S G 0 0 0 0 0 0 7 7 7 8 2 | A D | N A | fibroblast growth factor receptor 1 | OTHER | NA |
| 1 3 0 | FGFR2 | 2 2 6 3 | E N S G 0 0 0 0 0 0 6 6 4 6 8 | A D | N A | fibroblast growth factor receptor 2 | PANE L_APP | NA |
| 1 3 1 | FGFR3 | 2 2 6 1 | E N S G 0 0 0 0 0 0 6 8 0 7 8 | A D | N A | fibroblast growth factor receptor 3 | PANE L_APP | NA |
| 1 3 2 | FH | 2 2 7 1 | E N S G 0 0 0 0 0 0 9 1 4 8 3 | A D / A R | L o F | fumarate hydratase | CGC _94,N CGC,P ANEL_ APP,T CGA_P ANCAN _2018 | Hereditary leiomyomatosis and renal cell cancer |
| 1 3 3 | FHIT | 2 2 7 2 | E N S G 0 0 0 0 0 1 8 9 2 8 3 | N A | N A | fragile histidine triad diadenosine t riphosphatase | OTHER | NA |
| 1 3 4 | FLCN | 2 0 1 1 6 3 | E N S G 0 0 0 0 0 1 5 4 8 0 3 | A D / A R | L o F | folliculin | CGC _94,N CGC,P ANEL_ APP,T CGA_P ANCAN _2018 | NA |
| 1 3 5 | FLT3 | 2 3 2 2 | E N S G 0 0 0 0 0 1 2 2 0 2 5 | N A | N A | fms related receptor tyrosine kinase 3 | OTHER | NA |
| 1 3 6 | FMR1 | 2 3 3 2 | E N S G 0 0 0 0 0 1 0 2 0 8 1 | X D | N A | FMRP translational regulator 1 | OTHER | NA |
| 1 3 7 | FOXE1 | 2 3 0 4 | E N S G 0 0 0 0 0 1 7 8 9 1 9 | A D | N A | forkhead box E1 | PANE L_APP | NA |
| 1 3 8 | FOXO1 | 2 3 0 8 | E N S G 0 0 0 0 0 1 5 0 9 0 7 | N A | N A | forkhead box O1 | PANE L_APP | NA |
| 1 3 9 | FOXO3 | 2 3 0 9 | E N S G 0 0 0 0 0 1 1 8 6 8 9 | A D | N A | forkhead box O3 | PANE L_APP | NA |
| 1 4 0 | FOXO4 | 4 3 0 3 | E N S G 0 0 0 0 0 1 8 4 4 8 1 | N A | N A | forkhead box O4 | OTHER | NA |
| 1 4 1 | FOXP1 | 2 7 0 8 6 | E N S G 0 0 0 0 0 1 1 4 8 6 1 | N A | N A | forkhead box P1 | OTHER | NA |
| 1 4 2 | G6PC1 | 2 5 3 8 | E N S G 0 0 0 0 0 1 3 1 4 8 2 | N A | N A | glucose- 6-phosphatase catalytic subunit 1 | OTHER | NA |
| 1 4 3 | GALNT12 | 7 9 6 9 5 | E N S G 0 0 0 0 0 1 1 9 5 1 4 | A D | L o F | polypeptide N-acety lgalactosamin yltransferase 12 | NCGC | NA |
| 1 4 4 | GALNT3 | 2 5 9 1 | E N S G 0 0 0 0 0 1 1 5 3 3 9 | A R | N A | polypeptide N-acety lgalactosamin yltransferase 3 | PANE L_APP | NA |
| 1 4 5 | GATA1 | 2 6 2 3 | E N S G 0 0 0 0 0 1 0 2 1 4 5 | N A | N A | GATA binding protein 1 | PANE L_APP | NA |
| 1 4 6 | GATA2 | 2 6 2 4 | E N S G 0 0 0 0 0 1 7 9 3 4 8 | A D | L o F | GATA binding protein 2 | N CGC,P ANEL_ APP,T CGA_P ANCAN _2018 | Dendritic cell, monocyte, B lymphocyte, and natural killer lymphocyte deficiency |
| 1 4 7 | GATA3 | 2 6 2 5 | E N S G 0 0 0 0 0 1 0 7 4 8 5 | N A | N A | GATA binding protein 3 | OTHER | NA |
| 1 4 8 | GBA | 2 6 2 9 | E N S G 0 0 0 0 0 1 7 7 6 2 8 | A R | L o F | gluco sylceramidase beta | P ANEL_ APP,T CGA_P ANCAN _2018 | NA |
| 1 4 9 | GDNF | 2 6 6 8 | E N S G 0 0 0 0 0 1 6 8 6 2 1 | N A | N A | glial cell derived neurotrophic factor | PANE L_APP | NA |
| 1 5 0 | GJB2 | 2 7 0 6 | E N S G 0 0 0 0 0 1 6 5 4 7 4 | A D | L o F | gap junction protein beta 2 | T CGA_P ANCAN _2018 | NA |
| 1 5 1 | GLA | 2 7 1 7 | E N S G 0 0 0 0 0 1 0 2 3 9 3 | N A | L o F | galactosidase alpha | ACMG _SF30 ,PANE L_APP | Fabry disease |
| 1 5 2 | GLI3 | 2 7 3 7 | E N S G 0 0 0 0 0 1 0 6 5 7 1 | A D | N A | GLI family zinc finger 3 | OTHER | NA |
| 1 5 3 | GNAS | 2 7 7 8 | E N S G 0 0 0 0 0 0 8 7 4 6 0 | A D & m o s a i c | N A | GNAS complex locus | OTHER ,PANE L_APP | NA |
| 1 5 4 | GPC3 | 2 7 1 9 | E N S G 0 0 0 0 0 1 4 7 2 5 7 | N A | L o F | glypican 3 | CGC _94,N CGC,P ANEL_ APP,T CGA_P ANCAN _2018 | Simpson-Golabi-Behmel syndrome type 1 |
| 1 5 5 | GPC4 | 2 2 3 9 | E N S G 0 0 0 0 0 0 7 6 7 1 6 | N A | N A | glypican 4 | OTHER | NA |
| 1 5 6 | GPR161 | 2 3 4 3 2 | E N S G 0 0 0 0 0 1 4 3 1 4 7 | A D | N A | G pr otein-coupled receptor 161 | PANE L_APP | NA |
| 1 5 7 | GREM1 | 2 6 5 8 5 | E N S G 0 0 0 0 0 1 6 6 9 2 3 | A D | G o F | gremlin 1, DAN family BMP antagonist | NCGC ,PANE L_APP | NA |
| 1 5 8 | H19 | 2 8 3 1 2 0 | E N S G 0 0 0 0 0 1 3 0 6 0 0 | N A | N A | H19 imprinted maternally expressed transcript | PANE L_APP | NA |
| 1 5 9 | HABP2 | 3 0 2 6 | E N S G 0 0 0 0 0 1 4 8 7 0 2 | A D | N A | hyaluronan binding protein 2 | NCGC ,PANE L_APP | NA |
| 1 6 0 | HAX1 | 1 0 4 5 6 | E N S G 0 0 0 0 0 1 4 3 5 7 5 | A R | N A | HCLS1 associated protein X-1 | PANE L_APP | NA |
| 1 6 1 | HFE | 3 0 7 7 | E N S G 0 0 0 0 0 0 1 0 7 0 4 | A R | L o F | homeostatic iron regulator | A CMG_S F30,T CGA_P ANCAN _2018 | Hereditary hemochromatosis |
| 1 6 2 | HMBS | 3 1 4 5 | E N S G 0 0 0 0 0 2 5 6 2 6 9 | A D | L o F | hydrox ymethylbilane synthase | T CGA_P ANCAN _2018 | NA |
| 1 6 3 | HNF1A | 6 9 2 7 | E N S G 0 0 0 0 0 1 3 5 1 0 0 | A R | L o F | HNF1 homeobox A | ACM G_SF3 0,CGC _94,N CGC,T CGA_P ANCAN _2018 | Hepatic adenomas, familial; NA |
| 1 6 4 | HNF1B | 6 9 2 8 | E N S G 0 0 0 0 0 2 7 5 4 1 0 | N A | N A | HNF1 homeobox B | NCGC | NA |
| 1 6 5 | HOXB13 | 1 0 4 8 1 | E N S G 0 0 0 0 0 1 5 9 1 8 4 | A D | N A | homeobox B13 | NCGC ,PANE L_APP | NA |
| 1 6 6 | HRAS | 3 2 6 5 | E N S G 0 0 0 0 0 1 7 4 7 7 5 | A D | G o F | HRas pr oto-oncogene, GTPase | CGC _94,N CGC,P ANEL_ APP,T CGA_P ANCAN _2018 | Costello syndrome |
| 1 6 7 | IDH1 | 3 4 1 7 | E N S G 0 0 0 0 0 1 3 8 4 1 3 | N A | N A | isocitrate dehydrogenase (NADP(+)) 1 | OTHER | NA |
| 1 6 8 | IGF2 | 3 4 8 1 | E N S G 0 0 0 0 0 1 6 7 2 4 4 | N A | N A | insulin like growth factor 2 | PANE L_APP | NA |
| 1 6 9 | IGF2R | 3 4 8 2 | E N S G 0 0 0 0 0 1 9 7 0 8 1 | N A | N A | insulin like growth factor 2 receptor | OTHER | NA |
| 1 7 0 | IKZF1 | 1 0 3 2 0 | E N S G 0 0 0 0 0 1 8 5 8 1 1 | A D | N A | IKAROS family zinc finger 1 | OTHER ,PANE L_APP | NA |
| 1 7 1 | IKZF3 | 2 2 8 0 6 | E N S G 0 0 0 0 0 1 6 1 4 0 5 | N A | N A | IKAROS family zinc finger 3 | OTHER | NA |
| 1 7 2 | IRF4 | 3 6 6 2 | E N S G 0 0 0 0 0 1 3 7 2 6 5 | A D | N A | interferon regulatory factor 4 | PANE L_APP | NA |
| 1 7 3 | ITK | 3 7 0 2 | E N S G 0 0 0 0 0 1 1 3 2 6 3 | A R | L o F | IL2 inducible T cell kinase | P ANEL_ APP,T CGA_P ANCAN _2018 | Lymphoproliferative syndrome 1 |
| 1 7 4 | JAK1 | 3 7 1 6 | E N S G 0 0 0 0 0 1 6 2 4 3 4 | N A | N A | Janus kinase 1 | OTHER | NA |
| 1 7 5 | JAK2 | 3 7 1 7 | E N S G 0 0 0 0 0 0 9 6 9 6 8 | A D / A R | N A | Janus kinase 2 | PANE L_APP | NA |
| 1 7 6 | JAK3 | 3 7 1 8 | E N S G 0 0 0 0 0 1 0 5 6 3 9 | A R | N A | Janus kinase 3 | OTHER | NA |
| 1 7 7 | JMJD1C | 2 2 1 0 3 7 | E N S G 0 0 0 0 0 1 7 1 9 8 8 | A D | N A | jumonji domain containing 1C | T CGA_P ANCAN _2018 | NA |
| 1 7 8 | KCNQ1 | 3 7 8 4 | E N S G 0 0 0 0 0 0 5 3 9 1 8 | A D | L o F | potassium voltage-gated channel subfamily Q member 1 | ACMG_ SF30, OTHER | Long QT syndrome 1 |
| 1 7 9 | KCNQ1OT1 | 1 0 9 8 4 | E N S G 0 0 0 0 0 2 6 9 8 2 1 | N A | N A | KCNQ1 opposite str and/antisense transcript 1 | PANE L_APP | NA |
| 1 8 0 | KDM3B | 5 1 7 8 0 | E N S G 0 0 0 0 0 1 2 0 7 3 3 | N A | N A | lysine demethylase 3B | OTHER | NA |
| 1 8 1 | KDR | 3 7 9 1 | E N S G 0 0 0 0 0 1 2 8 0 5 2 | A D | N A | kinase insert domain receptor | C GC_94 | NA |
| 1 8 2 | KIF1B | 2 3 0 9 5 | E N S G 0 0 0 0 0 0 5 4 5 2 3 | N A | N A | kinesin family member 1B | NCGC ,PANE L_APP | NA |
| 1 8 3 | KISS1R | 8 4 6 3 4 | E N S G 0 0 0 0 0 1 1 6 0 1 4 | N A | N A | KISS1 receptor | PANE L_APP | NA |
| 1 8 4 | KIT | 3 8 1 5 | E N S G 0 0 0 0 0 1 5 7 4 0 4 | A D | G o F | KIT pr oto-oncogene, receptor tyrosine kinase | CGC _94,N CGC,P ANEL_ APP,T CGA_P ANCAN _2018 | Gastrointestinal stromal tumor |
| 1 8 5 | KITLG | 4 2 5 4 | E N S G 0 0 0 0 0 0 4 9 1 3 0 | A D | N A | KIT ligand | PANE L_APP | NA |
| 1 8 6 | KLF6 | 1 3 1 6 | E N S G 0 0 0 0 0 0 6 7 0 8 2 | N A | N A | Kruppel like factor 6 | OTHER | NA |
| 1 8 7 | KLLN | 1 0 0 1 4 4 7 4 8 | E N S G 0 0 0 0 0 2 2 7 2 6 8 | N A | N A | killin, p53 regulated DNA replication inhibitor | PANE L_APP | NA |
| 1 8 8 | KMT2D | 8 0 8 5 | E N S G 0 0 0 0 0 1 6 7 5 4 8 | N A | N A | lysine meth yltransferase 2D | OTHER | NA |
| 1 8 9 | KRAS | 3 8 4 5 | E N S G 0 0 0 0 0 1 3 3 7 0 3 | A D / A R | N A | KRAS pr oto-oncogene, GTPase | P ANEL_ APP,T CGA_P ANCAN _2018 | Noonan syndrome 3; RAS-associated autoimmune leukoproliferative disorder |
| 1 9 0 | KRT17 | 3 8 7 2 | E N S G 0 0 0 0 0 1 2 8 4 2 2 | A D | N A | keratin 17 | PANE L_APP | NA |
| 1 9 1 | L2HGDH | 7 9 9 4 4 | E N S G 0 0 0 0 0 0 8 7 2 9 9 | A R | N A | L-2-hyd roxyglutarate dehydrogenase | OTHER | NA |
| 1 9 2 | LCK | 3 9 3 2 | E N S G 0 0 0 0 0 1 8 2 8 6 6 | A R | N A | LCK pr oto-oncogene, Src family tyrosine kinase | OTHER | NA |
| 1 9 3 | LEF1 | 5 1 1 7 6 | E N S G 0 0 0 0 0 1 3 8 7 9 5 | A D | N A | lymphoid enhancer binding factor 1 | PANE L_APP | NA |
| 1 9 4 | LEMD3 | 2 3 5 9 2 | E N S G 0 0 0 0 0 1 7 4 1 0 6 | A D | N A | LEM domain containing 3 | PANE L_APP | NA |
| 1 9 5 | LIG4 | 3 9 8 1 | E N S G 0 0 0 0 0 1 7 4 4 0 5 | A R | N A | DNA ligase 4 | PANE L_APP | NA |
| 1 9 6 | LMO1 | 4 0 0 4 | E N S G 0 0 0 0 0 1 6 6 4 0 7 | A D | N A | LIM domain only 1 | CGC _94,T CGA_P ANCAN _2018 | Neuroblastoma, susceptibility to, 7 |
| 1 9 7 | LRIG3 | 1 2 1 2 2 7 | E N S G 0 0 0 0 0 1 3 9 2 6 3 | N A | N A | leucine rich repeats and i mmunoglobulin like domains 3 | OTHER | NA |
| 1 9 8 | LZTR1 | 8 2 1 6 | E N S G 0 0 0 0 0 0 9 9 9 4 9 | A D / A R | N A | leucine zipper like transcription regulator 1 | C GC_94 ,NCGC ,PANE L_APP | NA |
| 1 9 9 | MAD2L2 | 1 0 4 5 9 | E N S G 0 0 0 0 0 1 1 6 6 7 0 | A R | N A | mitotic arrest deficient 2 like 2 | PANE L_APP | NA |
| 2 0 0 | MAF | 4 0 9 4 | E N S G 0 0 0 0 0 1 7 8 5 7 3 | N A | N A | MAF bZIP transcription factor | OTHER | NA |
| 2 0 1 | MAFB | 9 9 3 5 | E N S G 0 0 0 0 0 2 0 4 1 0 3 | N A | N A | MAF bZIP transcription factor B | OTHER | NA |
| 2 0 2 | MAP2K1 | 5 6 0 4 | E N S G 0 0 0 0 0 1 6 9 0 3 2 | A D | N A | mito gen-activated protein kinase kinase 1 | P ANEL_ APP,T CGA_P ANCAN _2018 | NA |
| 2 0 3 | MAP2K2 | 5 6 0 5 | E N S G 0 0 0 0 0 1 2 6 9 3 4 | A D | N A | mito gen-activated protein kinase kinase 2 | P ANEL_ APP,T CGA_P ANCAN _2018 | NA |
| 2 0 4 | MAP2K4 | 6 4 1 6 | E N S G 0 0 0 0 0 0 6 5 5 5 9 | N A | N A | mito gen-activated protein kinase kinase 4 | OTHER | NA |
| 2 0 5 | MAP3K1 | 4 2 1 4 | E N S G 0 0 0 0 0 0 9 5 0 1 5 | N A | N A | mito gen-activated protein kinase kinase kinase 1 | NCGC | NA |
| 2 0 6 | MAX | 4 1 4 9 | E N S G 0 0 0 0 0 1 2 5 9 5 2 | A D / A R | L o F | MYC associated factor X | ACM G_SF3 0,CGC _94,N CGC,P ANEL_ APP,T CGA_P ANCAN _2018 | Hereditary Paragangl ioma-Pheochromocytoma Syndromes |
| 2 0 7 | MBD4 | 8 9 3 0 | E N S G 0 0 0 0 0 1 2 9 0 7 1 | A R | N A | methyl-CpG binding domain 4, DNA glycosylase | PANE L_APP | NA |
| 2 0 8 | MC1R | 4 1 5 7 | E N S G 0 0 0 0 0 2 5 8 8 3 9 | A R | N A | melanocortin 1 receptor | PANE L_APP | NA |
| 2 0 9 | MDH2 | 4 1 9 1 | E N S G 0 0 0 0 0 1 4 6 7 0 1 | A D | N A | malate dehydrogenase 2 | PANE L_APP | NA |
| 2 1 0 | MEN1 | 4 2 2 1 | E N S G 0 0 0 0 0 1 3 3 8 9 5 | A D / A R | L o F | menin 1 | ACM G_SF3 0,CGC _94,N CGC,P ANEL_ APP,T CGA_P ANCAN _2018 | Multiple endocrine neoplasia, type 1 |
| 2 1 1 | MET | 4 2 3 3 | E N S G 0 0 0 0 0 1 0 5 9 7 6 | A D | G o F | MET pr oto-oncogene, receptor tyrosine kinase | N CGC,P ANEL_ APP,T CGA_P ANCAN _2018 | Renal cell carcinoma |
| 2 1 2 | MINPP1 | 9 5 6 2 | E N S G 0 0 0 0 0 1 0 7 7 8 9 | A D | N A | multiple inositol- polyphosphate phosphatase 1 | PANE L_APP | NA |
| 2 1 3 | MITF | 4 2 8 6 | E N S G 0 0 0 0 0 1 8 7 0 9 8 | A D | G o F | melanocyte inducing transcription factor | N CGC,P ANEL_ APP,T CGA_P ANCAN _2018 | Hereditary melanoma |
| 2 1 4 | MLH1 | 4 2 9 2 | E N S G 0 0 0 0 0 0 7 6 2 4 2 | A D / A R | L o F | mutL homolog 1 | ACM G_SF3 0,CGC _94,N CGC,P ANEL_ APP,T CGA_P ANCAN _2018 | Hereditary nonpolyposis colorectal neoplasms; Turcot syndrome; Hereditary nonpolyposis colon cancer; Lynch syndrome |
| 2 1 5 | MLH3 | 2 7 0 3 0 | E N S G 0 0 0 0 0 1 1 9 6 8 4 | N A | N A | mutL homolog 3 | NCGC | NA |
| 2 1 6 | MN1 | 4 3 3 0 | E N S G 0 0 0 0 0 1 6 9 1 8 4 | A D | N A | MN1 pr oto-oncogene, tr anscriptional regulator | OTHER | NA |
| 2 1 7 | MPL | 4 3 5 2 | E N S G 0 0 0 0 0 1 1 7 4 0 0 | A D | N A | MPL pr oto-oncogene, t hrombopoietin receptor | CGC _94,T CGA_P ANCAN _2018 | NA |
| 2 1 8 | MRE11 | 4 3 6 1 | E N S G 0 0 0 0 0 0 2 0 9 2 2 | N A | N A | MRE11 homolog, double strand break repair nuclease | NCGC | NA |
| 2 1 9 | MSH2 | 4 4 3 6 | E N S G 0 0 0 0 0 0 9 5 0 0 2 | A D / A R | L o F | mutS homolog 2 | ACM G_SF3 0,CGC _94,N CGC,P ANEL_ APP,T CGA_P ANCAN _2018 | Hereditary nonpolyposis colorectal neoplasms; Turcot syndrome; Hereditary nonpolyposis colon cancer; Lynch syndrome |
| 2 2 0 | MSH3 | 4 4 3 7 | E N S G 0 0 0 0 0 1 1 3 3 1 8 | A R | N A | mutS homolog 3 | NCGC ,PANE L_APP | NA |
| 2 2 1 | MSH5 | 4 4 3 9 | E N S G 0 0 0 0 0 2 0 4 4 1 0 | N A | N A | mutS homolog 5 | PANE L_APP | NA |
| 2 2 2 | MSH6 | 2 9 5 6 | E N S G 0 0 0 0 0 1 1 6 0 6 2 | A D / A R | L o F | mutS homolog 6 | ACM G_SF3 0,CGC _94,N CGC,P ANEL_ APP,T CGA_P ANCAN _2018 | Hereditary nonpolyposis colorectal neoplasms; Turcot syndrome; Hereditary nonpolyposis colon cancer; Lynch syndrome |
| 2 2 3 | MSR1 | 4 4 8 1 | E N S G 0 0 0 0 0 0 3 8 9 4 5 | A D | N A | macrophage scavenger receptor 1 | PANE L_APP | NA |
| 2 2 4 | MTAP | 4 5 0 7 | E N S G 0 0 0 0 0 0 9 9 8 1 0 | A D | L o F | methyl thioadenosine phosphorylase | P ANEL_ APP,T CGA_P ANCAN _2018 | Diaphyseal medullary stenosis-bone malignancy syndrome |
| 2 2 5 | MUC1 | 4 5 8 2 | E N S G 0 0 0 0 0 1 8 5 4 9 9 | A D | N A | mucin 1, cell surface associated | OTHER | NA |
| 2 2 6 | MUC5B | 7 2 7 8 9 7 | E N S G 0 0 0 0 0 1 1 7 9 8 3 | N A | N A | mucin 5B, oligomeric mucu s/gel-forming | OTHER | NA |
| 2 2 7 | MUTYH | 4 5 9 5 | E N S G 0 0 0 0 0 1 3 2 7 8 1 | A R | L o F | mutY DNA glycosylase | ACM G_SF3 0,CGC _94,N CGC,P ANEL_ APP,T CGA_P ANCAN _2018 | MYH-associated polyposis |
| 2 2 8 | MYCN | 4 6 1 3 | E N S G 0 0 0 0 0 1 3 4 3 2 3 | N A | N A | MYCN pr oto-oncogene, bHLH transcription factor | OTHER | NA |
| 2 2 9 | NAF1 | 9 2 3 4 5 | E N S G 0 0 0 0 0 1 4 5 4 1 4 | A D | N A | nuclear assembly factor 1 ribo nucleoprotein | PANE L_APP | NA |
| 2 3 0 | NBN | 4 6 8 3 | E N S G 0 0 0 0 0 1 0 4 3 2 0 | A R | L o F | nibrin | CGC _94,N CGC,P ANEL_ APP,T CGA_P ANCAN _2018 | Microcephaly, normal intelligence and immunodeficiency |
| 2 3 1 | NCOA4 | 8 0 3 1 | E N S G 0 0 0 0 0 2 6 6 4 1 2 | N A | N A | nuclear receptor coactivator 4 | OTHER | NA |
| 2 3 2 | NDRG1 | 1 0 3 9 7 | E N S G 0 0 0 0 0 1 0 4 4 1 9 | N A | N A | N-myc downstream regulated 1 | OTHER | NA |
| 2 3 3 | NDUFA13 | 5 1 0 7 9 | E N S G 0 0 0 0 0 1 8 6 0 1 0 | A D | N A | NA DH:ubiquinone o xidoreductase subunit A13 | PANE L_APP | NA |
| 2 3 4 | NF1 | 4 7 6 3 | E N S G 0 0 0 0 0 1 9 6 7 1 2 | A D / A R | L o F | neurofibromin 1 | CGC _94,N CGC,P ANEL_ APP,T CGA_P ANCAN _2018 | Neurofibromatosis, type 1 |
| 2 3 5 | NF2 | 4 7 7 1 | E N S G 0 0 0 0 0 1 8 6 5 7 5 | A D / A R | L o F | neurofibromin 2 | ACM G_SF3 0,CGC _94,N CGC,P ANEL_ APP,T CGA_P ANCAN _2018 | Neurofibromatosis, type 2 |
| 2 3 6 | NFIX | 4 7 8 4 | E N S G 0 0 0 0 0 0 0 8 4 4 1 | N A | N A | nuclear factor I X | PANE L_APP | NA |
| 2 3 7 | NHP2 | 5 5 6 5 1 | E N S G 0 0 0 0 0 1 4 5 9 1 2 | A R | N A | NHP2 ribo nucleoprotein | P ANEL_ APP,T CGA_P ANCAN _2018 | Dyskeratosis congenita, autosomal recessive 2 |
| 2 3 8 | NKX2-1 | 7 0 8 0 | E N S G 0 0 0 0 0 1 3 6 3 5 2 | A D | N A | NK2 homeobox 1 | PANE L_APP | NA |
| 2 3 9 | NOP10 | 5 5 5 0 5 | E N S G 0 0 0 0 0 1 8 2 1 1 7 | A R | N A | NOP10 ribo nucleoprotein | P ANEL_ APP,T CGA_P ANCAN _2018 | Dyskeratosis congenita autosomal recessive 1 |
| 2 4 0 | NOTCH1 | 4 8 5 1 | E N S G 0 0 0 0 0 1 4 8 4 0 0 | N A | N A | notch receptor 1 | OTHER | NA |
| 2 4 1 | NOTCH3 | 4 8 5 4 | E N S G 0 0 0 0 0 0 7 4 1 8 1 | A D | N A | notch receptor 3 | NCGC ,PANE L_APP | NA |
| 2 4 2 | NR4A3 | 8 0 1 3 | E N S G 0 0 0 0 0 1 1 9 5 0 8 | N A | N A | nuclear receptor subfamily 4 group A member 3 | OTHER | NA |
| 2 4 3 | NRAS | 4 8 9 3 | E N S G 0 0 0 0 0 2 1 3 2 8 1 | A D | N A | NRAS pr oto-oncogene, GTPase | P ANEL_ APP,T CGA_P ANCAN _2018 | NA; Epidermal nevus; Large congenital melanocytic nevus; RAS-associated autoimmune leukoproliferative disorder; Noonan syndrome 6; Rasopathy |
| 2 4 4 | NSD1 | 6 4 3 2 4 | E N S G 0 0 0 0 0 1 6 5 6 7 1 | A D | L o F | nuclear receptor binding SET domain protein 1 | NCGC ,PANE L_APP | NA |
| 2 4 5 | NTHL1 | 4 9 1 3 | E N S G 0 0 0 0 0 0 6 5 0 5 7 | A R | N A | nth like DNA glycosylase 1 | CGC _94,N CGC,P ANEL_ APP,T CGA_P ANCAN _2018 | Familial adenomatous polyposis 3 |
| 2 4 6 | NTRK1 | 4 9 1 4 | E N S G 0 0 0 0 0 1 9 8 4 0 0 | A D | N A | neurotrophic receptor tyrosine kinase 1 | PANE L_APP | NA |
| 2 4 7 | NTRK3 | 4 9 1 6 | E N S G 0 0 0 0 0 1 4 0 5 3 8 | N A | N A | neurotrophic receptor tyrosine kinase 3 | OTHER | NA |
| 2 4 8 | NYNRIN | 5 7 5 2 3 | E N S G 0 0 0 0 0 2 0 5 9 7 8 | N A | N A | NYN domain and retroviral integrase containing | OTHER | NA |
| 2 4 9 | OGG1 | 4 9 6 8 | E N S G 0 0 0 0 0 1 1 4 0 2 6 | N A | N A | 8-oxoguanine DNA glycosylase | NCGC | NA |
| 2 5 0 | PALB2 | 7 9 7 2 8 | E N S G 0 0 0 0 0 0 8 3 0 9 3 | A D / A R | L o F | partner and localizer of BRCA2 | ACM G_SF3 0,CGC _94,N CGC,P ANEL_ APP,T CGA_P ANCAN _2018 | Familial cancer of breast; Fanconi anemia, complementation group N |
| 2 5 1 | PARN | 5 0 7 3 | E N S G 0 0 0 0 0 1 4 0 6 9 4 | A D / A R | N A | pol y(A)-specific ribonuclease | PANE L_APP | NA |
| 2 5 2 | PAX3 | 5 0 7 7 | E N S G 0 0 0 0 0 1 3 5 9 0 3 | N A | N A | paired box 3 | PANE L_APP | NA |
| 2 5 3 | PAX5 | 5 0 7 9 | E N S G 0 0 0 0 0 1 9 6 0 9 2 | A D | N A | paired box 5 | N CGC,P ANEL_ APP,T CGA_P ANCAN _2018 | Leukemia, acute lymphoblastic, susceptibility to, 3 |
| 2 5 4 | PAX6 | 5 0 8 0 | E N S G 0 0 0 0 0 0 0 7 3 7 2 | A D | N A | paired box 6 | PANE L_APP | NA |
| 2 5 5 | PAX7 | 5 0 8 1 | E N S G 0 0 0 0 0 0 0 9 7 0 9 | N A | N A | paired box 7 | PANE L_APP | NA |
| 2 5 6 | PBRM1 | 5 5 1 9 3 | E N S G 0 0 0 0 0 1 6 3 9 3 9 | N A | N A | polybromo 1 | OTHER | NA |
| 2 5 7 | PDGFRA | 5 1 5 6 | E N S G 0 0 0 0 0 1 3 4 8 5 3 | A D | G o F | platelet derived growth factor receptor alpha | CGC _94,N CGC,P ANEL_ APP,T CGA_P ANCAN _2018 | Gastrointestinal stromal tumor |
| 2 5 8 | PDGFRB | 5 1 5 9 | E N S G 0 0 0 0 0 1 1 3 7 2 1 | A D | N A | platelet derived growth factor receptor beta | PANE L_APP | NA |
| 2 5 9 | PHF6 | 8 4 2 9 5 | E N S G 0 0 0 0 0 1 5 6 5 3 1 | N A | N A | PHD finger protein 6 | OTHER | NA |
| 2 6 0 | PHOX2B | 8 9 2 9 | E N S G 0 0 0 0 0 1 0 9 1 3 2 | A D / A R | L o F | paired like homeobox 2B | CGC _94,N CGC,P ANEL_ APP,T CGA_P ANCAN _2018 | Neuroblastoma 2 |
| 2 6 1 | PIK3CA | 5 2 9 0 | E N S G 0 0 0 0 0 1 2 1 8 7 9 | A D | G o F | phosphatidy linositol-4,5 -bisphosphate 3-kinase catalytic subunit alpha | NCGC ,PANE L_APP | NA |
| 2 6 2 | PINK1 | 6 5 0 1 8 | E N S G 0 0 0 0 0 1 5 8 8 2 8 | N A | N A | PTEN induced kinase 1 | NCGC | NA |
| 2 6 3 | PML | 5 3 7 1 | E N S G 0 0 0 0 0 1 4 0 4 6 4 | N A | N A | PML nuclear body scaffold | OTHER | NA |
| 2 6 4 | PMS1 | 5 3 7 8 | E N S G 0 0 0 0 0 0 6 4 9 3 3 | A R | N A | PMS1 homolog 1, mismatch repair system component | CGC _94,N CGC,T CGA_P ANCAN _2018 | NA |
| 2 6 5 | PMS2 | 5 3 9 5 | E N S G 0 0 0 0 0 1 2 2 5 1 2 | A D / A R | L o F | PMS1 homolog 2, mismatch repair system component | ACM G_SF3 0,CGC _94,N CGC,P ANEL_ APP,T CGA_P ANCAN _2018 | Hereditary nonpolyposis colorectal neoplasms; Turcot syndrome; Hereditary nonpolyposis colon cancer; Lynch syndrome |
| 2 6 6 | POLA1 | 5 4 2 2 | E N S G 0 0 0 0 0 1 0 1 8 6 8 | N A | N A | DNA polymerase alpha 1, catalytic subunit | PANE L_APP | NA |
| 2 6 7 | POLD1 | 5 4 2 4 | E N S G 0 0 0 0 0 0 6 2 8 2 2 | A D | L o F | DNA polymerase delta 1, catalytic subunit | CGC _94,N CGC,P ANEL_ APP,T CGA_P ANCAN _2018 | NA |
| 2 6 8 | POLE | 5 4 2 6 | E N S G 0 0 0 0 0 1 7 7 0 8 4 | A D / A R | L o F | DNA polymerase epsilon, catalytic subunit | CGC _94,N CGC,P ANEL_ APP,T CGA_P ANCAN _2018 | NA |
| 2 6 9 | POLH | 5 4 2 9 | E N S G 0 0 0 0 0 1 7 0 7 3 4 | A R | L o F | DNA polymerase eta | P ANEL_ APP,T CGA_P ANCAN _2018 | Xeroderma pigmentosum variant type |
| 2 7 0 | POLQ | 1 0 7 2 1 | E N S G 0 0 0 0 0 0 5 1 3 4 1 | N A | N A | DNA polymerase theta | C GC_94 | NA |
| 2 7 1 | PORCN | 6 4 8 4 0 | E N S G 0 0 0 0 0 1 0 2 3 1 2 | N A | N A | porcupine O-ac yltransferase | PANE L_APP | NA |
| 2 7 2 | POT1 | 2 5 9 1 3 | E N S G 0 0 0 0 0 1 2 8 5 1 3 | A D | N A | protection of telomeres 1 | N CGC,P ANEL_ APP,T CGA_P ANCAN _2018 | Melanoma, cutaneous malignant, susceptibility to, 10 |
| 2 7 3 | PPM1D | 8 4 9 3 | E N S G 0 0 0 0 0 1 7 0 8 3 6 | N A | L o F | protein phosphatase, Mg2+/Mn2+ dependent 1D | NCGC ,PANE L_APP | NA |
| 2 7 4 | PPP1CB | 5 5 0 0 | E N S G 0 0 0 0 0 2 1 3 6 3 9 | A D | N A | protein phosphatase 1 catalytic subunit beta | PANE L_APP | NA |
| 2 7 5 | PRDM1 | 6 3 9 | E N S G 0 0 0 0 0 0 5 7 6 5 7 | N A | N A | PR/SET domain 1 | OTHER | NA |
| 2 7 6 | PRDM9 | 5 6 9 7 9 | E N S G 0 0 0 0 0 1 6 4 2 5 6 | A D | N A | PR/SET domain 9 | T CGA_P ANCAN _2018 | NA |
| 2 7 7 | PRF1 | 5 5 5 1 | E N S G 0 0 0 0 0 1 8 0 6 4 4 | A R | L o F | perforin 1 | CGC _94,N CGC,P ANEL_ APP,T CGA_P ANCAN _2018 | Familial hemophagocytic lymphohistiocytosis 2 |
| 2 7 8 | PRKAR1A | 5 5 7 3 | E N S G 0 0 0 0 0 1 0 8 9 4 6 | A D / A R | L o F | protein kinase c AMP-dependent type I regulatory subunit alpha | CGC _94,N CGC,P ANEL_ APP,T CGA_P ANCAN _2018 | Carney complex |
| 2 7 9 | PRKN | 5 0 7 1 | E N S G 0 0 0 0 0 1 8 5 3 4 5 | N A | N A | parkin RBR E3 ubiquitin protein ligase | OTHER | NA |
| 2 8 0 | PRSS1 | 5 6 4 4 | E N S G 0 0 0 0 0 2 0 4 9 8 3 | A D | L o F | serine protease 1 | N CGC,P ANEL_ APP,T CGA_P ANCAN _2018 | Hereditary pancreatitis |
| 2 8 1 | PTCH1 | 5 7 2 7 | E N S G 0 0 0 0 0 1 8 5 9 2 0 | A D / A R | L o F | patched 1 | CGC _94,N CGC,P ANEL_ APP,T CGA_P ANCAN _2018 | Gorlin syndrome |
| 2 8 2 | PTCH2 | 8 6 4 3 | E N S G 0 0 0 0 0 1 1 7 4 2 5 | A D | N A | patched 2 | PANE L_APP | NA |
| 2 8 3 | PTCSC1 | 1 0 0 3 0 2 5 2 2 | E N S G 0 0 0 0 0 2 8 7 7 3 6 | A D | N A | papillary thyroid carcinoma s usceptibility candidate 1 | PANE L_APP | NA |
| 2 8 4 | PTCSC3 | 1 0 0 8 8 6 9 6 4 | N A | N A | N A | papillary thyroid carcinoma s usceptibility candidate 3 | PANE L_APP | NA |
| 2 8 5 | PTEN | 5 7 2 8 | E N S G 0 0 0 0 0 1 7 1 8 6 2 | A D / A R | L o F | phosphatase and tensin homolog | ACM G_SF3 0,CGC _94,N CGC,P ANEL_ APP,T CGA_P ANCAN _2018 | PTEN hamartoma tumor syndrome; Cowden syndrome 1 |
| 2 8 6 | PTPN11 | 5 7 8 1 | E N S G 0 0 0 0 0 1 7 9 2 9 5 | A D | G o F | protein tyrosine phosphatase non-receptor type 11 | N CGC,P ANEL_ APP,T CGA_P ANCAN _2018 | Noonan syndrome |
| 2 8 7 | PTPN12 | 5 7 8 2 | E N S G 0 0 0 0 0 1 2 7 9 4 7 | N A | N A | protein tyrosine phosphatase non-receptor type 12 | PANE L_APP | NA |
| 2 8 8 | PTPN13 | 5 7 8 3 | E N S G 0 0 0 0 0 1 6 3 6 2 9 | A R | N A | protein tyrosine phosphatase non-receptor type 13 | C GC_94 | NA |
| 2 8 9 | PTPRJ | 5 7 9 5 | E N S G 0 0 0 0 0 1 4 9 1 7 7 | N A | N A | protein tyrosine phosphatase receptor type J | OTHER | NA |
| 2 9 0 | RABL3 | 2 8 5 2 8 2 | E N S G 0 0 0 0 0 1 4 4 8 4 0 | A D | N A | RAB, member of RAS oncogene family like 3 | PANE L_APP | NA |
| 2 9 1 | RAD50 | 1 0 1 1 1 | E N S G 0 0 0 0 0 1 1 3 5 2 2 | A D / A R | L o F | RAD50 double strand break repair protein | NCGC | NA |
| 2 9 2 | RAD51 | 5 8 8 8 | E N S G 0 0 0 0 0 0 5 1 1 8 0 | A D | N A | RAD51 recombinase | NCGC ,PANE L_APP | NA |
| 2 9 3 | RAD51B | 5 8 9 0 | E N S G 0 0 0 0 0 1 8 2 1 8 5 | N A | N A | RAD51 paralog B | NCGC | NA |
| 2 9 4 | RAD51C | 5 8 8 9 | E N S G 0 0 0 0 0 1 0 8 3 8 4 | A D / A R | L o F | RAD51 paralog C | N CGC,P ANEL_ APP,T CGA_P ANCAN _2018 | Fanconi anemia, complementation group O |
| 2 9 5 | RAD51D | 5 8 9 2 | E N S G 0 0 0 0 0 1 8 5 3 7 9 | A D | L o F | RAD51 paralog D | N CGC,P ANEL_ APP,T CGA_P ANCAN _2018 | Breast-ovarian cancer, familial 4 |
| 2 9 6 | RAD54L | 8 4 3 8 | E N S G 0 0 0 0 0 0 8 5 9 9 9 | N A | N A | RAD54 like | PANE L_APP | NA |
| 2 9 7 | RAF1 | 5 8 9 4 | E N S G 0 0 0 0 0 1 3 2 1 5 5 | A D | N A | Raf-1 pr oto-oncogene, ser ine/threonine kinase | P ANEL_ APP,T CGA_P ANCAN _2018 | LEOPARD syndrome 2; Noonan syndrome 5 |
| 2 9 8 | RASA1 | 5 9 2 1 | E N S G 0 0 0 0 0 1 4 5 7 1 5 | N A | N A | RAS p21 protein activator 1 | OTHER | NA |
| 2 9 9 | RB1 | 5 9 2 5 | E N S G 0 0 0 0 0 1 3 9 6 8 7 | A D / A R | L o F | RB tr anscriptional corepressor 1 | ACM G_SF3 0,CGC _94,N CGC,P ANEL_ APP,T CGA_P ANCAN _2018 | Osteosarcoma; Retinoblastoma |
| 3 0 0 | RCC2 | 5 5 9 2 0 | E N S G 0 0 0 0 0 1 7 9 0 5 1 | N A | N A | regulator of chromosome condensation 2 | NCGC | NA |
| 3 0 1 | RECQL | 5 9 6 5 | E N S G 0 0 0 0 0 0 0 4 7 0 0 | A D | N A | RecQ like helicase | T CGA_P ANCAN _2018 | NA |
| 3 0 2 | RECQL4 | 9 4 0 1 | E N S G 0 0 0 0 0 1 6 0 9 5 7 | A R | L o F | RecQ like helicase 4 | CGC _94,N CGC,P ANEL_ APP,T CGA_P ANCAN _2018 | Rothmund-Thomson syndrome |
| 3 0 3 | REST | 5 9 7 8 | E N S G 0 0 0 0 0 0 8 4 0 9 3 | A D | N A | RE1 silencing transcription factor | PANE L_APP | NA |
| 3 0 4 | RET | 5 9 7 9 | E N S G 0 0 0 0 0 1 6 5 7 3 1 | A D | G o F | ret p roto-oncogene | ACM G_SF3 0,CGC _94,N CGC,P ANEL_ APP,T CGA_P ANCAN _2018 | Multiple endocrine neoplasia, type 2a; Multiple endocrine neoplasia, type 2b; Familial medullary thyroid carcinoma |
| 3 0 5 | RFWD3 | 5 5 1 5 9 | E N S G 0 0 0 0 0 1 6 8 4 1 1 | N A | N A | ring finger and WD repeat domain 3 | C GC_94 | NA |
| 3 0 6 | RHBDF2 | 7 9 6 5 1 | E N S G 0 0 0 0 0 1 2 9 6 6 7 | A D | G o F | rhomboid 5 homolog 2 | N CGC,T CGA_P ANCAN _2018 | Palmoplantar k eratoderma-esophageal carcinoma syndrome |
| 3 0 7 | RING1 | 6 0 1 5 | E N S G 0 0 0 0 0 2 0 4 2 2 7 | N A | N A | ring finger protein 1 | NCGC | NA |
| 3 0 8 | RINT1 | 6 0 5 6 1 | E N S G 0 0 0 0 0 1 3 5 2 4 9 | N A | N A | RAD50 interactor 1 | NCGC | NA |
| 3 0 9 | RIT1 | 6 0 1 6 | E N S G 0 0 0 0 0 1 4 3 6 2 2 | A D | N A | Ras like without CAAX 1 | PANE L_APP | NA |
| 3 1 0 | RMRP | 6 0 2 3 | E N S G 0 0 0 0 0 2 6 9 9 0 0 | A R | L o F | RNA component of mitochondrial RNA processing end oribonuclease | P ANEL_ APP,T CGA_P ANCAN _2018 | Metaphyseal chondrodysplasia, McKusick type |
| 3 1 1 | RNASEL | 6 0 4 1 | E N S G 0 0 0 0 0 1 3 5 8 2 8 | N A | N A | ribonuclease L | PANE L_APP | NA |
| 3 1 2 | RNF43 | 5 4 8 9 4 | E N S G 0 0 0 0 0 1 0 8 3 7 5 | A D | N A | ring finger protein 43 | PANE L_APP | NA |
| 3 1 3 | ROS1 | 6 0 9 8 | E N S G 0 0 0 0 0 0 4 7 9 3 6 | N A | N A | ROS p roto-oncogene 1, receptor tyrosine kinase | OTHER | NA |
| 3 1 4 | RPL11 | 6 1 3 5 | E N S G 0 0 0 0 0 1 4 2 6 7 6 | A D | N A | ribosomal protein L11 | PANE L_APP | NA |
| 3 1 5 | RPL15 | 6 1 3 8 | E N S G 0 0 0 0 0 1 7 4 7 4 8 | A D | N A | ribosomal protein L15 | PANE L_APP | NA |
| 3 1 6 | RPL23 | 9 3 4 9 | E N S G 0 0 0 0 0 1 2 5 6 9 1 | A D | N A | ribosomal protein L23 | PANE L_APP | NA |
| 3 1 7 | RPL26 | 6 1 5 4 | E N S G 0 0 0 0 0 1 6 1 9 7 0 | A D | N A | ribosomal protein L26 | PANE L_APP | NA |
| 3 1 8 | RPL27 | 6 1 5 5 | E N S G 0 0 0 0 0 1 3 1 4 6 9 | A D | N A | ribosomal protein L27 | PANE L_APP | NA |
| 3 1 9 | RPL31 | 6 1 6 0 | E N S G 0 0 0 0 0 0 7 1 0 8 2 | A D | N A | ribosomal protein L31 | PANE L_APP | NA |
| 3 2 0 | RPL35A | 6 1 6 5 | E N S G 0 0 0 0 0 1 8 2 8 9 9 | A D | N A | ribosomal protein L35a | PANE L_APP | NA |
| 3 2 1 | RPL36 | 2 5 8 7 3 | E N S G 0 0 0 0 0 1 3 0 2 5 5 | A D | N A | ribosomal protein L36 | PANE L_APP | NA |
| 3 2 2 | RPL5 | 6 1 2 5 | E N S G 0 0 0 0 0 1 2 2 4 0 6 | A D | N A | ribosomal protein L5 | PANE L_APP | NA |
| 3 2 3 | RPS10 | 6 2 0 4 | E N S G 0 0 0 0 0 1 2 4 6 1 4 | A D | N A | ribosomal protein S10 | PANE L_APP | NA |
| 3 2 4 | RPS15 | 6 2 0 9 | E N S G 0 0 0 0 0 1 1 5 2 6 8 | A D | N A | ribosomal protein S15 | PANE L_APP | NA |
| 3 2 5 | RPS17 | 6 2 1 8 | E N S G 0 0 0 0 0 1 8 2 7 7 4 | A D | N A | ribosomal protein S17 | PANE L_APP | NA |
| 3 2 6 | RPS19 | 6 2 2 3 | E N S G 0 0 0 0 0 1 0 5 3 7 2 | A D | N A | ribosomal protein S19 | PANE L_APP | NA |
| 3 2 7 | RPS24 | 6 2 2 9 | E N S G 0 0 0 0 0 1 3 8 3 2 6 | A D | N A | ribosomal protein S24 | PANE L_APP | NA |
| 3 2 8 | RPS26 | 6 2 3 1 | E N S G 0 0 0 0 0 1 9 7 7 2 8 | A D | N A | ribosomal protein S26 | PANE L_APP | NA |
| 3 2 9 | RPS27 | 6 2 3 2 | E N S G 0 0 0 0 0 1 7 7 9 5 4 | A D | N A | ribosomal protein S27 | PANE L_APP | NA |
| 3 3 0 | RPS27A | 6 2 3 3 | E N S G 0 0 0 0 0 1 4 3 9 4 7 | A D | N A | ribosomal protein S27a | PANE L_APP | NA |
| 3 3 1 | RPS28 | 6 2 3 4 | E N S G 0 0 0 0 0 2 3 3 9 2 7 | A D | N A | ribosomal protein S28 | PANE L_APP | NA |
| 3 3 2 | RPS29 | 6 2 3 5 | E N S G 0 0 0 0 0 2 1 3 7 4 1 | A D | N A | ribosomal protein S29 | PANE L_APP | NA |
| 3 3 3 | RPS7 | 6 2 0 1 | E N S G 0 0 0 0 0 1 7 1 8 6 3 | A D | N A | ribosomal protein S7 | PANE L_APP | NA |
| 3 3 4 | RRAS2 | 2 2 8 0 0 | E N S G 0 0 0 0 0 1 3 3 8 1 8 | N A | N A | RAS related 2 | PANE L_APP | NA |
| 3 3 5 | RTEL1 | 5 1 7 5 0 | E N S G 0 0 0 0 0 2 5 8 3 6 6 | A D / A R | N A | regulator of telomere elongation helicase 1 | PANE L_APP | NA |
| 3 3 6 | RUNX1 | 8 6 1 | N A | A D | L o F | RUNX family transcription factor 1 | N CGC,P ANEL_ APP,T CGA_P ANCAN _2018 | Familial platelet disorder with associated myeloid malignancy |
| 3 3 7 | SAMD9 | 5 4 8 0 9 | E N S G 0 0 0 0 0 2 0 5 4 1 3 | A D / A R | N A | sterile alpha motif domain containing 9 | PANE L_APP | NA |
| 3 3 8 | SAMD9L | 2 1 9 2 8 5 | E N S G 0 0 0 0 0 1 7 7 4 0 9 | A D | N A | sterile alpha motif domain containing 9 like | PANE L_APP | NA |
| 3 3 9 | SASH1 | 2 3 3 2 8 | E N S G 0 0 0 0 0 1 1 1 9 6 1 | A D / A R | N A | SAM and SH3 domain containing 1 | PANE L_APP | NA |
| 3 4 0 | SBDS | 5 1 1 1 9 | E N S G 0 0 0 0 0 1 2 6 5 2 4 | A R | L o F | SBDS ribosome maturation factor | CGC _94,N CGC,P ANEL_ APP,T CGA_P ANCAN _2018 | Shwachman syndrome |
| 3 4 1 | SCG5 | 6 4 4 7 | E N S G 0 0 0 0 0 1 6 6 9 2 2 | N A | N A | secretogranin V | NCGC | NA |
| 3 4 2 | SDHA | 6 3 8 9 | E N S G 0 0 0 0 0 0 7 3 5 7 8 | A D / A R | L o F | succinate dehydrogenase complex flavoprotein subunit A | CGC _94,N CGC,P ANEL_ APP,T CGA_P ANCAN _2018 | Paragangliomas 5 |
| 3 4 3 | SDHAF2 | 5 4 9 4 9 | E N S G 0 0 0 0 0 1 6 7 9 8 5 | A D / A R | L o F | succinate dehydrogenase complex assembly factor 2 | ACM G_SF3 0,CGC _94,N CGC,P ANEL_ APP,T CGA_P ANCAN _2018 | Hereditary Paragangl ioma-Pheochromocytoma Syndromes |
| 3 4 4 | SDHB | 6 3 9 0 | E N S G 0 0 0 0 0 1 1 7 1 1 8 | A D / A R | L o F | succinate dehydrogenase complex iron sulfur subunit B | ACM G_SF3 0,CGC _94,N CGC,P ANEL_ APP,T CGA_P ANCAN _2018 | Hereditary Paragangl ioma-Pheochromocytoma Syndromes; Carney-Stratakis syndrome |
| 3 4 5 | SDHC | 6 3 9 1 | E N S G 0 0 0 0 0 1 4 3 2 5 2 | A D / A R | L o F | succinate dehydrogenase complex subunit C | ACM G_SF3 0,CGC _94,N CGC,P ANEL_ APP,T CGA_P ANCAN _2018 | Hereditary Paragangl ioma-Pheochromocytoma Syndromes; Carney-Stratakis syndrome |
| 3 4 6 | SDHD | 6 3 9 2 | E N S G 0 0 0 0 0 2 0 4 3 7 0 | A D / A R | L o F | succinate dehydrogenase complex subunit D | ACM G_SF3 0,CGC _94,N CGC,P ANEL_ APP,T CGA_P ANCAN _2018 | Hereditary Paragangl ioma-Pheochromocytoma Syndromes; Carney-Stratakis syndrome |
| 3 4 7 | SEC23B | 1 0 4 8 3 | E N S G 0 0 0 0 0 1 0 1 3 1 0 | A D | N A | SEC23 homolog B, COPII coat complex component | PANE L_APP | NA |
| 3 4 8 | SEMA4A | 6 4 2 1 8 | E N S G 0 0 0 0 0 1 9 6 1 8 9 | N A | N A | semaphorin 4A | OTHER | NA |
| 3 4 9 | SERPINA1 | 5 2 6 5 | E N S G 0 0 0 0 0 1 9 7 2 4 9 | A R | L o F | serpin family A member 1 | OT HER,T CGA_P ANCAN _2018 | Alpha-1-antitrypsin deficiency |
| 3 5 0 | SETBP1 | 2 6 0 4 0 | E N S G 0 0 0 0 0 1 5 2 2 1 7 | A D | N A | SET binding protein 1 | CGC _94,T CGA_P ANCAN _2018 | Schinzel-Giedion syndrome |
| 3 5 1 | SETMAR | 6 4 1 9 | E N S G 0 0 0 0 0 1 7 0 3 6 4 | N A | N A | SET domain and mariner transposase fusion gene | OTHER | NA |
| 3 5 2 | SFTPA1 | 6 5 3 5 0 9 | E N S G 0 0 0 0 0 1 2 2 8 5 2 | N A | N A | surfactant protein A1 | OTHER | NA |
| 3 5 3 | SFTPA2 | 7 2 9 2 3 8 | E N S G 0 0 0 0 0 1 8 5 3 0 3 | N A | N A | surfactant protein A2 | OTHER | NA |
| 3 5 4 | SH2B3 | 1 0 0 1 9 | E N S G 0 0 0 0 0 1 1 1 2 5 2 | A R | N A | SH2B adaptor protein 3 | P ANEL_ APP,T CGA_P ANCAN _2018 | NA |
| 3 5 5 | SH2D1A | 4 0 6 8 | E N S G 0 0 0 0 0 1 8 3 9 1 8 | N A | L o F | SH2 domain containing 1A | P ANEL_ APP,T CGA_P ANCAN _2018 | NA |
| 3 5 6 | SHOC2 | 8 0 3 6 | E N S G 0 0 0 0 0 1 0 8 0 6 1 | A D | N A | SHOC2 leucine rich repeat scaffold protein | P ANEL_ APP,T CGA_P ANCAN _2018 | Noonan syndrome-like disorder with loose anagen hair |
| 3 5 7 | SIX1 | 6 4 9 5 | E N S G 0 0 0 0 0 1 2 6 7 7 8 | N A | N A | SIX homeobox 1 | OTHER | NA |
| 3 5 8 | SLC25A13 | 1 0 1 6 5 | E N S G 0 0 0 0 0 0 0 4 8 6 4 | A R | L o F | solute carrier family 25 member 13 | T CGA_P ANCAN _2018 | NA |
| 3 5 9 | SLC26A3 | 1 8 1 1 | E N S G 0 0 0 0 0 0 9 1 1 3 8 | N A | N A | solute carrier family 26 member 3 | PANE L_APP | NA |
| 3 6 0 | SLC5A5 | 6 5 2 8 | E N S G 0 0 0 0 0 1 0 5 6 4 1 | A R | N A | solute carrier family 5 member 5 | PANE L_APP | NA |
| 3 6 1 | SLX4 | 8 4 4 6 4 | E N S G 0 0 0 0 0 1 8 8 8 2 7 | A R | L o F | SLX4 struc ture-specific endonuclease subunit | NCGC ,PANE L_APP | NA |
| 3 6 2 | SMAD4 | 4 0 8 9 | E N S G 0 0 0 0 0 1 4 1 6 4 6 | A D / A R | L o F | SMAD family member 4 | ACM G_SF3 0,CGC _94,N CGC,P ANEL_ APP,T CGA_P ANCAN _2018 | Hereditary hemorrhagic telangiectasia; Juvenile polyposis syndrome |
| 3 6 3 | SMAD9 | 4 0 9 3 | E N S G 0 0 0 0 0 1 2 0 6 9 3 | A D | N A | SMAD family member 9 | PANE L_APP | NA |
| 3 6 4 | SMARCA2 | 6 5 9 5 | E N S G 0 0 0 0 0 0 8 0 5 0 3 | A R | N A | SWI/SNF related, matrix associated, actin dependent regulator of chromatin, subfamily a, member 2 | OTHER | NA |
| 3 6 5 | SMARCA4 | 6 5 9 7 | E N S G 0 0 0 0 0 1 2 7 6 1 6 | A D / A R | L o F | SWI/SNF related, matrix associated, actin dependent regulator of chromatin, subfamily a, member 4 | N CGC,P ANEL_ APP,T CGA_P ANCAN _2018 | Rhabdoid tumor predisposition syndrome 2 |
| 3 6 6 | SMARCB1 | 6 5 9 8 | E N S G 0 0 0 0 0 0 9 9 9 5 6 | A D / A R | L o F | SWI/SNF related, matrix associated, actin dependent regulator of chromatin, subfamily b, member 1 | CGC _94,N CGC,P ANEL_ APP,T CGA_P ANCAN _2018 | Rhabdoid tumor predisposition syndrome 1 |
| 3 6 7 | SMARCE1 | 6 6 0 5 | E N S G 0 0 0 0 0 0 7 3 5 8 4 | A D / A R | L o F | SWI/SNF related, matrix associated, actin dependent regulator of chromatin, subfamily e, member 1 | CGC _94,N CGC,P ANEL_ APP,T CGA_P ANCAN _2018 | Hereditary Meningioma |
| 3 6 8 | SMO | 6 6 0 8 | E N S G 0 0 0 0 0 1 2 8 6 0 2 | N A | N A | smoothened, frizzled class receptor | OTHER | NA |
| 3 6 9 | SOCS1 | 8 6 5 1 | E N S G 0 0 0 0 0 1 8 5 3 3 8 | N A | N A | suppressor of cytokine signaling 1 | OTHER | NA |
| 3 7 0 | SOS1 | 6 6 5 4 | E N S G 0 0 0 0 0 1 1 5 9 0 4 | A D | G o F | SOS Ras/Rac guanine nucleotide exchange factor 1 | P ANEL_ APP,T CGA_P ANCAN _2018 | Noonan syndrome |
| 3 7 1 | SOS2 | 6 6 5 5 | E N S G 0 0 0 0 0 1 0 0 4 8 5 | A D | N A | SOS Ras/Rho guanine nucleotide exchange factor 2 | PANE L_APP | NA |
| 3 7 2 | SPINK1 | 6 6 9 0 | E N S G 0 0 0 0 0 1 6 4 2 6 6 | N A | N A | serine peptidase inhibitor Kazal type 1 | NCGC | NA |
| 3 7 3 | SPOP | 8 4 0 5 | E N S G 0 0 0 0 0 1 2 1 0 6 7 | A R | N A | speckle type BTB/POZ protein | C GC_94 ,PANE L_APP | NA |
| 3 7 4 | SPRED1 | 1 6 1 7 4 2 | E N S G 0 0 0 0 0 1 6 6 0 6 8 | A D | N A | sprouty related EVH1 domain containing 1 | NCGC ,PANE L_APP | NA |
| 3 7 5 | SPRTN | 8 3 9 3 2 | E N S G 0 0 0 0 0 0 1 0 0 7 2 | A R | N A | SprT-like N-terminal domain | T CGA_P ANCAN _2018 | Ruijs-Aalfs syndrome |
| 3 7 6 | SQSTM1 | 8 8 7 8 | E N S G 0 0 0 0 0 1 6 1 0 1 1 | A D | N A | sequestosome 1 | PANE L_APP | NA |
| 3 7 7 | SRC | 6 7 1 4 | E N S G 0 0 0 0 0 1 9 7 1 2 2 | N A | N A | SRC pr oto-oncogene, non-receptor tyrosine kinase | PANE L_APP | NA |
| 3 7 8 | SRGAP1 | 5 7 5 2 2 | E N S G 0 0 0 0 0 1 9 6 9 3 5 | A D | N A | SLIT-ROBO Rho GTPase activating protein 1 | PANE L_APP | NA |
| 3 7 9 | SRP72 | 6 7 3 1 | E N S G 0 0 0 0 0 1 7 4 7 8 0 | A D | N A | signal recognition particle 72 | PANE L_APP | NA |
| 3 8 0 | SRRM2 | 2 3 5 2 4 | E N S G 0 0 0 0 0 1 6 7 9 7 8 | A D | N A | se rine/arginine repetitive matrix 2 | PANE L_APP | NA |
| 3 8 1 | SRY | 6 7 3 6 | E N S G 0 0 0 0 0 1 8 4 8 9 5 | N A | N A | sex determining region Y | T CGA_P ANCAN _2018 | Gonadoblastoma |
| 3 8 2 | STAT3 | 6 7 7 4 | E N S G 0 0 0 0 0 1 6 8 6 1 0 | A D | L o F | signal transducer and activator of transcription 3 | CGC _94,P ANEL_ APP,T CGA_P ANCAN _2018 | STAT3 Deficiency |
| 3 8 3 | STK11 | 6 7 9 4 | E N S G 0 0 0 0 0 1 1 8 0 4 6 | A D / A R | L o F | ser ine/threonine kinase 11 | ACM G_SF3 0,CGC _94,N CGC,P ANEL_ APP,T CGA_P ANCAN _2018 | Peutz-Jeghers syndrome |
| 3 8 4 | STN1 | 7 9 9 9 1 | E N S G 0 0 0 0 0 1 0 7 9 6 0 | A D | N A | STN1 subunit of CST complex | PANE L_APP | NA |
| 3 8 5 | STX11 | 8 6 7 6 | E N S G 0 0 0 0 0 1 3 5 6 0 4 | A R | N A | syntaxin 11 | PANE L_APP | NA |
| 3 8 6 | STXBP2 | 6 8 1 3 | E N S G 0 0 0 0 0 0 7 6 9 4 4 | A R | N A | syntaxin binding protein 2 | PANE L_APP | NA |
| 3 8 7 | SUFU | 5 1 6 8 4 | E N S G 0 0 0 0 0 1 0 7 8 8 2 | A D / A R | L o F | SUFU negative regulator of hedgehog signaling | CGC _94,N CGC,P ANEL_ APP,T CGA_P ANCAN _2018 | Medulloblastoma; Hereditary Meningioma |
| 3 8 8 | SYK | 6 8 5 0 | E N S G 0 0 0 0 0 1 6 5 0 2 5 | N A | N A | spleen associated tyrosine kinase | OTHER | NA |
| 3 8 9 | TBXT | 6 8 6 2 | E N S G 0 0 0 0 0 1 6 4 4 5 8 | A D | N A | T-box transcription factor T | PANE L_APP | NA |
| 3 9 0 | TCF7L2 | 6 9 3 4 | E N S G 0 0 0 0 0 1 4 8 7 3 7 | N A | N A | transcription factor 7 like 2 | OTHER | NA |
| 3 9 1 | TERC | 7 0 1 2 | E N S G 0 0 0 0 0 2 7 7 9 2 5 | A D | N A | telomerase RNA component | PANE L_APP | NA |
| 3 9 2 | TERF2IP | 5 4 3 8 6 | N A | N A | N A | TERF2 interacting protein | NCGC ,PANE L_APP | NA |
| 3 9 3 | TERT | 7 0 1 5 | E N S G 0 0 0 0 0 1 6 4 3 6 2 | A D / A R | L o F | telomerase reverse transcriptase | CGC _94,N CGC,P ANEL_ APP,T CGA_P ANCAN _2018 | Autosomal dominant dyskeratosis congenita |
| 3 9 4 | TET2 | 5 4 7 9 0 | E N S G 0 0 0 0 0 1 6 8 7 6 9 | N A | N A | tet m ethylcytosine dioxygenase 2 | OTHER | NA |
| 3 9 5 | TFAP2A | 7 0 2 0 | E N S G 0 0 0 0 0 1 3 7 2 0 3 | A D | N A | transcription factor AP-2 alpha | OTHER | NA |
| 3 9 6 | TFE3 | 7 0 3 0 | E N S G 0 0 0 0 0 0 6 8 3 2 3 | N A | N A | transcription factor binding to IGHM enhancer 3 | OTHER | NA |
| 3 9 7 | TG | 7 0 3 8 | E N S G 0 0 0 0 0 0 4 2 8 3 2 | A R | N A | thyroglobulin | PANE L_APP | NA |
| 3 9 8 | TGFBR1 | 7 0 4 6 | E N S G 0 0 0 0 0 1 0 6 7 9 9 | A D | L o F | transforming growth factor beta receptor 1 | A CMG_S F30,T CGA_P ANCAN _2018 | Multiple self-healing squamous epithelioma; Loeys-Dietz syndrome |
| 3 9 9 | TGFBR2 | 7 0 4 8 | E N S G 0 0 0 0 0 1 6 3 5 1 3 | A R | L o F | transforming growth factor beta receptor 2 | A CMG_S F30,C GC_94 | Loeys-Dietz syndrome |
| 4 0 0 | TINF2 | 2 6 2 7 7 | E N S G 0 0 0 0 0 0 9 2 3 3 0 | A D | N A | TERF1 interacting nuclear factor 2 | PANE L_APP | NA |
| 4 0 1 | TMC6 | 1 1 3 2 2 | E N S G 0 0 0 0 0 1 4 1 5 2 4 | A R | N A | transmembrane channel like 6 | PANE L_APP | NA |
| 4 0 2 | TMC8 | 1 4 7 1 3 8 | E N S G 0 0 0 0 0 1 6 7 8 9 5 | A R | N A | transmembrane channel like 8 | PANE L_APP | NA |
| 4 0 3 | TMEM127 | 5 5 6 5 4 | E N S G 0 0 0 0 0 1 3 5 9 5 6 | A D / A R | L o F | transmembrane protein 127 | ACM G_SF3 0,CGC _94,N CGC,P ANEL_ APP,T CGA_P ANCAN _2018 | Pheochromocytoma; Hereditary Paragangl ioma-Pheochromocytoma Syndromes |
| 4 0 4 | TNFAIP3 | 7 1 2 8 | E N S G 0 0 0 0 0 1 1 8 5 0 3 | N A | N A | TNF alpha induced protein 3 | OTHER | NA |
| 4 0 5 | TNFRSF11A | 8 7 9 2 | E N S G 0 0 0 0 0 1 4 1 6 5 5 | A D | N A | TNF receptor superfamily member 11a | PANE L_APP | NA |
| 4 0 6 | TP53 | 7 1 5 7 | E N S G 0 0 0 0 0 1 4 1 5 1 0 | A D / A R | L o F | tumor protein p53 | ACM G_SF3 0,CGC _94,N CGC,P ANEL_ APP,T CGA_P ANCAN _2018 | NA; Li-Fraumeni syndrome 1 |
| 4 0 7 | TP63 | 8 6 2 6 | E N S G 0 0 0 0 0 0 7 3 2 8 2 | N A | N A | tumor protein p63 | C GC_94 | NA |
| 4 0 8 | TRIM24 | 8 8 0 5 | E N S G 0 0 0 0 0 1 2 2 7 7 9 | N A | N A | tripartite motif containing 24 | OTHER | NA |
| 4 0 9 | TRIM28 | 1 0 1 5 5 | E N S G 0 0 0 0 0 1 3 0 7 2 6 | A D | N A | tripartite motif containing 28 | PANE L_APP | NA |
| 4 1 0 | TRIM37 | 4 5 9 1 | E N S G 0 0 0 0 0 1 0 8 3 9 5 | A R | L o F | tripartite motif containing 37 | P ANEL_ APP,T CGA_P ANCAN _2018 | NA |
| 4 1 1 | TRIP13 | 9 3 1 9 | E N S G 0 0 0 0 0 0 7 1 5 3 9 | A R | N A | thyroid hormone receptor interactor 13 | PANE L_APP | NA |
| 4 1 2 | TSC1 | 7 2 4 8 | E N S G 0 0 0 0 0 1 6 5 6 9 9 | A D / A R | L o F | TSC complex subunit 1 | ACM G_SF3 0,CGC _94,N CGC,P ANEL_ APP,T CGA_P ANCAN _2018 | Tuberous sclerosis syndrome; Tuberous sclerosis 1 |
| 4 1 3 | TSC2 | 7 2 4 9 | E N S G 0 0 0 0 0 1 0 3 1 9 7 | A D / A R | L o F | TSC complex subunit 2 | ACM G_SF3 0,CGC _94,N CGC,P ANEL_ APP,T CGA_P ANCAN _2018 | Tuberous sclerosis syndrome; Tuberous sclerosis 2 |
| 4 1 4 | TSHR | 7 2 5 3 | E N S G 0 0 0 0 0 1 6 5 4 0 9 | A D | N A | thyroid stimulating hormone receptor | CGC _94,T CGA_P ANCAN _2018 | Hyperthyroidism, nonautoimmune |
| 4 1 5 | TSR2 | 9 0 1 2 1 | E N S G 0 0 0 0 0 1 5 8 5 2 6 | N A | N A | TSR2 ribosome maturation factor | PANE L_APP | NA |
| 4 1 6 | TYK2 | 7 2 9 7 | E N S G 0 0 0 0 0 1 0 5 3 9 7 | A R | N A | tyrosine kinase 2 | OTHER | NA |
| 4 1 7 | UBE2T | 2 9 0 8 9 | E N S G 0 0 0 0 0 0 7 7 1 5 2 | A R | N A | ubiquitin conjugating enzyme E2 T | PANE L_APP | NA |
| 4 1 8 | UNC13D | 2 0 1 2 9 4 | E N S G 0 0 0 0 0 0 9 2 9 2 9 | A D / A R | N A | unc-13 homolog D | PANE L_APP | NA |
| 4 1 9 | UROD | 7 3 8 9 | E N S G 0 0 0 0 0 1 2 6 0 8 8 | A D / A R | L o F | uro porphyrinogen decarboxylase | T CGA_P ANCAN _2018 | Familial porphyria cutanea tarda |
| 4 2 0 | VANGL1 | 8 1 8 3 9 | E N S G 0 0 0 0 0 1 7 3 2 1 8 | N A | N A | VANGL planar cell polarity protein 1 | OTHER | NA |
| 4 2 1 | VDR | 7 4 2 1 | E N S G 0 0 0 0 0 1 1 1 4 2 4 | A D / A R | N A | vitamin D receptor | PANE L_APP | NA |
| 4 2 2 | VHL | 7 4 2 8 | E N S G 0 0 0 0 0 1 3 4 0 8 6 | A D / A R | L o F | von Hippel-Lindau tumor suppressor | ACM G_SF3 0,CGC _94,N CGC,P ANEL_ APP,T CGA_P ANCAN _2018 | Von Hippel-Lindau syndrome |
| 4 2 3 | VTRNA2-1 | 1 0 0 1 2 6 2 9 9 | E N S G 0 0 0 0 0 2 7 8 8 1 5 | N A | N A | vault RNA 2-1 | PANE L_APP | NA |
| 4 2 4 | WAS | 7 4 5 4 | E N S G 0 0 0 0 0 0 1 5 2 8 5 | N A | L o F | WASP actin nucleation promoting factor | CGC _94,P ANEL_ APP,T CGA_P ANCAN _2018 | Thrombocytopenia 1 |
| 4 2 5 | WIF1 | 1 1 1 9 7 | E N S G 0 0 0 0 0 1 5 6 0 7 6 | N A | N A | WNT inhibitory factor 1 | OTHER | NA |
| 4 2 6 | WRAP53 | 5 5 1 3 5 | E N S G 0 0 0 0 0 1 4 1 4 9 9 | A R | N A | WD repeat containing antisense to TP53 | PANE L_APP | NA |
| 4 2 7 | WRN | 7 4 8 6 | E N S G 0 0 0 0 0 1 6 5 3 9 2 | A R | L o F | WRN RecQ like helicase | CGC _94,N CGC,P ANEL_ APP,T CGA_P ANCAN _2018 | Werner syndrome |
| 4 2 8 | WT1 | 7 4 9 0 | E N S G 0 0 0 0 0 1 8 4 9 3 7 | A D / A R | L o F | WT1 transcription factor | ACM G_SF3 0,CGC _94,N CGC,P ANEL_ APP,T CGA_P ANCAN _2018 | Wilms tumor 1 |
| 4 2 9 | XPA | 7 5 0 7 | E N S G 0 0 0 0 0 1 3 6 9 3 6 | A R | L o F | XPA, DNA damage recognition and repair factor | CGC _94,N CGC,P ANEL_ APP,T CGA_P ANCAN _2018 | Xeroderma pigmentosum group A |
| 4 3 0 | XPC | 7 5 0 8 | E N S G 0 0 0 0 0 1 5 4 7 6 7 | A R | L o F | XPC complex subunit, DNA damage recognition and repair factor | CGC _94,N CGC,P ANEL_ APP,T CGA_P ANCAN _2018 | Xeroderma pigmentosum, group C |
| 4 3 1 | XRCC2 | 7 5 1 6 | E N S G 0 0 0 0 0 1 9 6 5 8 4 | A R | L o F | X-ray repair cross complementing 2 | NCGC ,PANE L_APP | NA |
| 4 3 2 | XRCC3 | 7 5 1 7 | E N S G 0 0 0 0 0 1 2 6 2 1 5 | A D | N A | X-ray repair cross complementing 3 | OTHER | NA |
| 4 3 3 | ZBTB16 | 7 7 0 4 | E N S G 0 0 0 0 0 1 0 9 9 0 6 | N A | N A | zinc finger and BTB domain containing 16 | OTHER | NA |