Spreadsheet: 0cd1c8d3-e648-4937-b7d5-adf991c20064
Sheet: Sheet1

Symbol | Name | GeneID | Chr | Chr Band | Cancer Somatic Mut | Cancer [NAME] | [NAME]  (Somatic Mutations) | [NAME] ([NAME]) | Cancer Syndrome | Tissue Type | [NAME] | Mutation Type | Translocation Partner | Other [NAME] | Other Syndrome/Disease | Downloaded Feb 8, 2012
[NAME] | v-abl [NAME] murine leukemia viral oncogene homolog 1 | 25 | 9 | 9q34.1 | yes |  | CML, ALL, T-ALL |  |  | L | Dom | T, [NAME] | BCR, [NAME], NUP214
[NAME] | v-abl [NAME] murine leukemia viral oncogene homolog 2 | 27 | 1 | 1q24-q25 | yes |  | AML |  |  | L | Dom | T | ETV6
ACSL3 | acyl-CoA synthetase long-chain family member 3 | 2181 | 2 | 2q36 | yes |  | prostate |  |  | E | Dom | T | ETV1
AF15Q14 | AF15q14 protein | 57082 | 15 | 15q14 | yes |  | AML |  |  | L | Dom | T | MLL
AF1Q | ALL1-fused gene from chromosome 1q | 10962 | 1 | 1q21 | yes |  | ALL |  |  | L | Dom | T | MLL
AF3p21 | SH3 protein interacting with Nck, 90 kDa (ALL1 fused gene from 3p21) | 51517 | 3 | 3p21 | yes |  | ALL |  |  | L | Dom | T | MLL
AF5q31 | ALL1 fused gene from 5q31 | 27125 | 5 | 5q31 | yes |  | ALL |  |  | L | Dom | T | MLL
AKAP9 | A kinase (PRKA) anchor protein (yotiao) 9 | 10142 | 7 | 7q21-q22 | yes |  | papillary thyroid |  |  | E | Dom | T | BRAF
AKT1 | v-akt murine thymoma viral oncogene homolog 1 | 207 | 14 | 14q32.32 | yes |  | breast, colorectal, ovarian, NSCLC |  |  | E | Dom | Mis
AKT2 | v-akt murine thymoma viral oncogene homolog 2 | 208 | 19 | 19q13.1-q13.2 | yes |  | ovarian, pancreatic |  |  | E | Dom | A
ALDH2 | aldehyde dehydrogenase 2 family (mitochondrial) | 217 | 12 | 12q24.2 | yes |  | leiomyoma |  |  | M | Dom | T | HMGA2
ALK | anaplastic lymphoma kinase (Ki-1) | 238 | 2 | 2p23 | yes | yes | ALCL, NSCLC, Neuroblastoma | neuroblastoma | Familial neuroblastoma | L, E, M | Dom | T, [NAME], A | NPM1, [NAME], [NAME], TPM4, ATIC, CLTC, MSN, [NAME], CARS, EML4
ALO17 | [NAME] protein | 57714 | 17 | 17q25.3 | yes |  | ALCL |  |  | L | Dom | T | ALK
APC | adenomatous polyposis of the colon gene | 324 | 5 | 5q21 | yes | yes | colorectal, pancreatic, desmoid, hepatoblastoma, glioma, other CNS | colorectal, pancreatic, desmoid, hepatoblastoma, glioma, other CNS | Adenomatous polyposis coli; Turcot syndrome | E, M, O | Rec | D, Mis, N, F, S
ARHGEF12 | RHO guanine nucleotide exchange factor (GEF) 12 (LARG) | 23365 | 11 | 11q23.3 | yes |  | AML |  |  | L | Dom | T | MLL
ARHH | RAS homolog gene family, member H (TTF) | 399 | 4 | 4p13 | yes |  | NHL |  |  | L | Dom | T | BCL6
ARID1A | AT rich interactive domain 1A (SWI-like) | 8289 | 1 | 1p35.3 | yes |  | clear cell ovarian carcinoma, RCC |  |  | E | Rec | Mis, N, F, S, D
ARID2 | AT rich interactive domain 2 | 196528 | 12 | 12q12 | yes |  | hepatocellular carcinoma |  |  | E | Rec | N, S, F
ARNT | aryl hydrocarbon receptor nuclear translocator | 405 | 1 | 1q21 | yes |  | AML |  |  | L | Dom | T | ETV6
ASPSCR1 | alveolar soft part sarcoma chromosome region, candidate 1 | 79058 | 17 | 17q25 | yes |  | alveolar soft part sarcoma |  |  | M | Dom | T | TFE3
ASXL1 | additional sex combs like 1 | 171023 | 20 | 20q11.1 | yes |  | MDS, CMML |  |  | L | Rec | F, N, Mis
ATF1 | activating transcription factor 1 | 466 | 12 | 12q13 | yes |  | malignant melanoma of soft parts , angiomatoid fibrous histiocytoma |  |  | E, M | Dom | T | EWSR1, FUS
ATIC | 5-aminoimidazole-4-carboxamide ribonucleotide formyltransferase/IMP cyclohydrolase | 471 | 2 | 2q35 | yes |  | ALCL |  |  | L | Dom | T | ALK
ATM | [NAME] mutated | 472 | 11 | 11q22.3 | yes | yes | T-PLL | leukemia, lymphoma, medulloblastoma, glioma | [NAME] | L, O | Rec | D, Mis, N, F, S
ATRX | alpha thalassemia/mental retardation syndrome X-linked | 546 | X | Xq21.1 | yes |  | Pancreatic neuroendocrine tumors |  |  | E | Rec | Mis, F, N |  | yes | ATR-X (alpha thalassemia/mental retardation) syndrome
BAP1 | BRCA1 associated protein-1 (ubiquitin carboxy-terminal hydrolase) | 8314 | 3 | 3p21.31-p21.2 | yes |  | uveal melanoma, breast, NSCLC, RCC | mesothelioma, uveal melanoma |  | E | Rec | N, [NAME], F, S, O
BCL10 | B-cell CLL/lymphoma 10 | 8915 | 1 | 1p22 | yes |  | MALT |  |  | L | Dom | T | IGH@
BCL11A | B-cell CLL/lymphoma 11A | 53335 | 2 | 2p13 | yes |  | B-CLL |  |  | L | Dom | T | IGH@
BCL11B | B-cell CLL/lymphoma 11B  (CTIP2) | 64919 | 14 | 14q32.1 | yes |  | T-ALL |  |  | L | Dom | T | TLX3
BCL2 | B-cell CLL/lymphoma 2 | 596 | 18 | 18q21.3 | yes |  | NHL, CLL |  |  | L | Dom | T | IGH@
BCL3 | B-cell CLL/lymphoma 3 | 602 | 19 | 19q13 | yes |  | CLL |  |  | L | Dom | T | IGH@
[NAME] | B-cell CLL/lymphoma 5 | 603 | 17 | 17q22 | yes |  | CLL |  |  | L | Dom | T | MYC
BCL6 | B-cell CLL/lymphoma 6 | 604 | 3 | 3q27 | yes |  | NHL, CLL |  |  | L | Dom | T, [NAME] | IG loci, [NAME], LCP1, PIM1, [NAME], CIITA, NACA, HSPCB, HSPCA, HIST1H4I, IL21R,  POU2AF1, ARHH, EIF4A2, SFRS3
BCL7A | B-cell CLL/lymphoma 7A | 605 | 12 | 12q24.1 | yes |  | BNHL |  |  | L | Dom | T | MYC
BCL9 | B-cell CLL/lymphoma 9 | 607 | 1 | 1q21 | yes |  | B-ALL |  |  | L | Dom | T | IGH@, IGL@
BCOR | BCL6 corepressor | 54880 | X | Xp11.4 | yes |  | retinoblastoma, AML, APL(translocation) |  |  |  | Rec | F, N, S, T | RARA | yes | oculo-facio-cardio-dental genetic
BCR | [NAME] | 613 | 22 | 22q11.21 | yes |  | CML, ALL, AML |  |  | L | Dom | T | ABL1,  FGFR1, JAK2
BHD | folliculin, Birt-Hogg-Dube syndrome | 201163 | 17 | 17p11.2 |  | yes |  | renal, fibrofolliculomas, trichodiscomas | Birt-Hogg-Dube syndrome | E, M | Rec? | Mis. N, F
BIRC3 | baculoviral IAP repeat-containing 3 | 330 | 11 | 11q22-q23 | yes |  | MALT |  |  | L | Dom | T | MALT1
BLM | Bloom Syndrome | 641 | 15 | 15q26.1 |  | yes |  | leukemia, lymphoma, skin squamous cell , other cancers | Bloom Syndrome | L, E | Rec | Mis, N, F
BMPR1A | bone morphogenetic protein receptor, type IA | 657 | 10 | 10q22.3 |  | yes |  | gastrointestinal polyps | Juvenile polyposis | E | Rec | Mis, N, F
BRAF | v-raf murine sarcoma viral oncogene homolog B1 | 673 | 7 | 7q34 | yes |  | melanoma, colorectal, papillary thyroid, borderline ov, Non small-cell lung cancer (NSCLC), cholangiocarcinoma, pilocytic astrocytoma |  |  | E | Dom | Mis, T, O | AKAP9, KIAA1549 | yes | Cardio-facio-cutaneous syndrome
BRCA1 | familial breast/ovarian cancer gene 1 | 672 | 17 | 17q21 | yes | yes | ovarian | breast, ovarian | Hereditary breast/ovarian cancer | E | Rec | D, Mis, N, F, S
BRCA2 | familial breast/ovarian cancer gene 2 | 675 | 13 | 13q12 | yes | yes | breast, ovarian, pancreatic | breast, ovarian, pancreatic, leukemia  (FANCB, FANCD1) | Hereditary breast/ovarian cancer | L, E | Rec | D, Mis, N, F, S
BRD3 | bromodomain containing 3 | 8019 | 9 | 9q34 | yes |  | lethal midline carcinoma of young people |  |  | E | Dom | T | C15orf55
BRD4 | bromodomain containing 4 | 23476 | 19 | 19p13.1 | yes |  | lethal midline carcinoma of young people |  |  | E | Dom | T | C15orf55
BRIP1 | BRCA1 interacting protein C-terminal helicase 1 | 83990 | 17 | 17q22 |  | yes |  | AML, leukemia, breast | Fanconi anaemia J, breast cancer susceptiblity | L, E | Rec | F, N, Mis
BTG1 | B-cell translocation gene 1, anti-proliferative | 694 | 12 | 12q22 | yes |  | BCLL |  |  | L | Dom | T | MYC
BUB1B | BUB1 budding uninhibited by benzimidazoles 1 homolog beta (yeast) | 701 | 15 | 15q15 |  | yes |  | rhabdomyosarcoma | Mosaic variegated aneuploidy | M | Rec | Mis, N, F, S
C12orf9 | chromosome 12 open reading frame 9 | 93669 | 12 | 12q14.3 | yes |  | lipoma |  |  | M | Dom | T | LPP
C15orf21 | chromosome 15 open reading frame 21 | 283651 | 15 | 15q21.1 | yes |  | prostate |  |  | E | Dom | T | ETV1
C15orf55 | chromosome 15 open reading frame 55 | 256646 | 15 | 15q14 | yes |  | lethal midline carcinoma |  |  | E | Dom | T | BRD3, BRD4
C16orf75 | chromosome 16 open reading frame 75 | 116028 | 16 | 16p13.13 | yes |  | PMBL, [NAME], |  |  | L | Dom | T | CIITA
CANT1 | calcium activated nucleotidase 1 | 124583 | 17 | 17q25 | yes |  | prostate |  |  | E | Dom | T | ETV4
CARD11 | caspase recruitment domain family, member 11 | 84433 | 7 | 7p22 | yes |  | DLBCL |  |  | L | Dom | Mis
CARS | cysteinyl-tRNA synthetase | 833 | 11 | 11p15.5 | yes |  | ALCL |  |  | L | Dom | T | ALK
CBFA2T1 | core-binding factor, runt domain, alpha subunit 2;translocated to, 1  (ETO) | 862 | 8 | 8q22 | yes |  | AML |  |  | L | Dom | T | MLL, [NAME]
CBFA2T3 | core-binding factor, runt domain, alpha subunit 2; translocated to, 3 (MTG-16) | 863 | 16 | 16q24 | yes |  | AML |  |  | L | Dom | T | [NAME]
CBFB | core-binding factor, beta subunit | 865 | 16 | 16q22 | yes |  | AML |  |  | L | Dom | T | MYH11
CBL | [NAME] (murine) ecotropic retroviral transforming | 867 | 11 | 11q23.3 | yes |  | AML, JMML, MDS |  |  | L | Dom, Rec | T, Mis S, O | MLL
CBLB | [NAME] (murine) ecotropic retroviral transforming sequence b | 868 | 3 | 3q13.11 | yes |  | AML |  |  | L | Rec | Mis S
CBLC | [NAME] (murine) ecotropic retroviral transforming sequence c | 23624 | 19 | 19q13.2 | yes |  | AML |  |  | L | Rec | M
CCNB1IP1 | cyclin B1 interacting protein 1, E3 ubiquitin protein ligase | 57820 | 14 | 14q11.2 | yes |  | leiomyoma |  |  | M | Dom | T | HMGA2
CCND1 | cyclin D1 | 595 | 11 | 11q13 | yes |  | CLL, B-ALL, breast |  |  | L, E | Dom | T | IGH@, FSTL3
CCND2 | cyclin D2 | 894 | 12 | 12p13 | yes |  | NHL,CLL |  |  | L | Dom | T | IGL@
CCND3 | cyclin D3 | 896 | 6 | 6p21 | yes |  | MM |  |  | L | Dom | T | IGH@
CCNE1 | cyclin E1 | 898 | 19 | 19q12 | yes |  | serous ovarian |  |  | E | Dom | A
CD273 | programmed cell death 1 ligand 2 | 80380 | 9 | 9p24.2 | yes |  | PMBL, [NAME], |  |  | L | Dom | T | CIITA
CD274 | CD274 molecule | 29126 | 9 | 9p24 | yes |  | PMBL, [NAME], |  |  | L | Dom | T | CIITA
CD74 | CD74 molecule, major histocompatibility complex, class II invariant chain | 972 | 5 | 5q32 | yes |  | NSCLC |  |  | E | Dom | T | ROS1
CD79A | CD79a molecule, immunoglobulin-associated alpha | 973 | 19 | 19q13.2 | yes |  | DLBCL |  |  | L | Dom | O, S
CD79B | CD79b molecule, immunoglobulin-associated beta | 974 | 17 | 17q23 | yes |  | DLBCL |  |  | L | Dom | Mis, O
CDH1 | cadherin 1, type 1, E-cadherin (epithelial) (ECAD) | 999 | 16 | 16q22.1 | yes | yes | lobular breast, gastric | gastric | Familial gastric carcinoma | E | Rec | Mis, N, F, S
CDH11 | cadherin 11, type 2, OB-cadherin (osteoblast) | 1009 | 16 | 16q22.1 | yes |  | aneurysmal bone cysts |  |  | M | Dom | T | USP6
CDK12 | cyclin-dependent kinase 12 | 51755 | 17 | 17q12 | yes |  | serous ovarian |  |  | E | Rec | Mis, N, F
CDK4 | cyclin-dependent kinase 4 | 1019 | 12 | 12q14 |  | yes |  | melanoma | Familial malignant melanoma | E | Dom | Mis
[NAME] | cyclin-dependent kinase 6 | 1021 | 7 | 7q21-q22 | yes |  | ALL |  |  | L | Dom | T | MLLT10
CDKN2A | cyclin-dependent kinase inhibitor 2A (p16(INK4a)) gene | 1029 | 9 | 9p21 | yes | yes | melanoma, multiple other tumour types | melanoma, pancreatic | Familial malignant melanoma | L, E, M, O | Rec | D, Mis, N, F, S
CDKN2a(p14) | cyclin-dependent kinase inhibitor 2A--  p14ARF protein | 1029 | 9 | 9p21 | yes | yes | melanoma, multiple other tumour types | melanoma, pancreatic | Familial malignant melanoma | L, E, M, O | Rec | D, S
CDKN2C | cyclin-dependent kinase inhibitor [NAME] (p18, inhibits CDK4) | 1031 | 1 | 1p32 | yes |  | glioma, MM |  |  | O, L | Rec | D
CDX2 | caudal type homeo box transcription factor 2 | 1045 | 13 | 13q12.3 | yes |  | AML |  |  | L | Dom | T | ETV6
CEBPA | CCAAT/enhancer binding protein (C/EBP), alpha | 1050 | 19 | 19q13.1 | yes |  | AML, MDS |  |  | L | Dom | Mis, N, F
CEP1 | centrosomal protein 1 | 11064 | 9 | 9q33 | yes |  | MPD, NHL |  |  | L | Dom | T | FGFR1
CHCHD7 | coiled-coil-helix-coiled-coil-helix domain containing 7 | 79145 | 8 | 8q11.2 | yes |  | salivary adenoma |  |  | E | Dom | T | PLAG1
CHEK2 | CHK2 checkpoint homolog (S. pombe) | 11200 | 22 | 22q12.1 |  | yes |  | breast | familial breast cancer | E | Rec | F
CHIC2 | cysteine-rich hydrophobic domain 2 | 26511 | 4 | 4q11-q12 | yes |  | AML |  |  | L | Dom | T | ETV6
CHN1 | chimerin (chimaerin) 1 | 1123 | 2 | 2q31-q32.1 | yes |  | extraskeletal myxoid chondrosarcoma |  |  | M | Dom | T | TAF15
CIC | capicua homolog | 23152 | 19 | 19q13.2 | yes |  | oligodendroglioma |  |  | O | Rec | Mis, F, S
CIITA | class II, major histocompatibility complex, transactivator | 4261 | 16 | 16p13 | yes |  | PMBL, [NAME], |  |  | L | Dom | T | FLJ27352, CD274, CD273, RALGDS, [NAME], C16orf75, BCL6
CLTC | clathrin, heavy polypeptide (Hc) | 1213 | 17 | 17q11-qter | yes |  | ALCL, renal |  |  | L | Dom | T | ALK, TFE3
CLTCL1 | clathrin, heavy polypeptide-like 1 | 8218 | 22 | 22q11.21 | yes |  | ALCL |  |  | L | Dom | T | ?
CMKOR1 | chemokine orphan receptor 1 | 57007 | 2 | 2q37.3 | yes |  | lipoma |  |  | M | Dom | T | HMGA2
COL1A1 | collagen, type I, alpha 1 | 1277 | 17 | 17q21.31-q22 | yes |  | dermatofibrosarcoma protuberans, aneurysmal bone cyst |  |  | M | Dom | T | PDGFB, USP6 | yes | Osteogenesis imperfecta
COPEB | core promoter element binding protein (KLF6) | 1316 | 10 | 10p15 | yes |  | prostate, glioma |  |  | E, O | Rec | Mis, N
COX6C | cytochrome c oxidase subunit VIc | 1345 | 8 | 8q22-q23 | yes |  | uterine leiomyoma |  |  | M | Dom | T | HMGA2
CREB1 | cAMP responsive element binding protein 1 | 1385 | 2 | 2q34 | yes |  | clear cell sarcoma, angiomatoid fibrous histiocytoma |  |  | M | Dom | T | EWSR1
CREB3L1 | cAMP responsive element binding protein 3-like 1 | 90993 | 11 | 11p11.2 | yes |  | myxofibrosarcoma |  |  | M | Dom | T | FUS
CREB3L2 | cAMP responsive element binding protein 3-like 2 | 64764 | 7 | 7q34 | yes |  | fibromyxoid sarcoma |  |  | M | Dom | T | FUS
CREBBP | CREB binding protein (CBP) | 1387 | 16 | 16p13.3 | yes |  | ALL, AML, DLBCL, B-NHL |  |  | L | Dom/Rec | T, N, F, [NAME], O | MLL, MORF, RUNXBP2 | yes | Rubinstein-Taybi syndrome
CRLF2 | cytokine receptor-like factor 2 | 64109 | X,Y | Xp22.3; Yp11.3 | yes |  | B-ALL, Downs associated ALL |  |  | L | Dom | Mis, T | P2RY8, IGH@
CRTC3 | CREB regulated transcription coactivator 3 | 64784 | 15 | 15q26.1 | yes |  | salivary gland mucoepidermoid |  |  | E | Dom | T | [NAME]
CTNNB1 | catenin (cadherin-associated protein), beta 1 | 1499 | 3 | 3p22-p21.3 | yes |  | colorectal, [NAME],  hepatoblastoma, others, pleomorphic salivary adenoma |  |  | E, M, O | Dom | H, [NAME], T | PLAG1
CYLD | familial cylindromatosis gene | 1540 | 16 | 16q12-q13 | yes | yes | cylindroma | cylindroma | Familial cylindromatosis | E | Rec | Mis, N, F, S
[NAME] | DNA segment on chromosome 10 (unique) 170, H4 gene (PTC1) | 8030 | 10 | 10q21 | yes |  | papillary thyroid, CML |  |  | E | Dom | T | RET, PDGFRB
DAXX | death-domain associated protein | 1616 | 6 | 6p21.3 | yes |  | Pancreatic neuroendocrine tumors |  |  | E | Rec | Mis, F, N
DDB2 | damage-specific DNA binding protein 2 | 1643 | 11 | 11p12 |  | yes |  | skin basal cell, skin squamous cell, melanoma | Xeroderma pigmentosum (E) | E | Rec | Mis, N
DDIT3 | DNA-damage-inducible transcript 3 | 1649 | 12 | 12q13.1-q13.2 | yes |  | liposarcoma |  |  | M | Dom | T | FUS
DDX10 | DEAD (Asp-Glu-Ala-Asp) box polypeptide 10 | 1662 | 11 | 11q22-q23 | yes |  | AML* |  |  | L | Dom | T | NUP98
DDX5 | DEAD (Asp-Glu-Ala-Asp) box polypeptide 5 | 1655 | 17 | 17q21 | yes |  | prostate |  |  | E | Dom | T | ETV4
[NAME] | DEAD (Asp-Glu-Ala-Asp) box polypeptide 6 | 1656 | 11 | 11q23.3 | yes |  | B-NHL |  |  | L | Dom | T | IGH@
DEK | DEK oncogene (DNA binding) | 7913 | 6 | 6p23 | yes |  | AML |  |  | L | Dom | T | NUP214
DICER1 | dicer 1, ribonuclease type III | 23405 | 14 | 14q32.13 | yes | yes | sex cord-stromal tumour, TGCT, embryonal rhadomyosarcoma | pleuropulmonary blastoma | Familial Pleuropulmonary Blastoma | E, M, O | Rec | [NAME], N
DNMT3A | DNA (cytosine-5-)-methyltransferase 3 alpha | 1788 | 2 | 2p23 | yes |  | AML |  |  | L | Rec | Mis, F, N, S
DUX4 | double homeobox, 4 | 22947 | 4 | 4q35 | yes |  | soft tissue sarcoma |  |  | M | Dom | T | CIC
EBF1 | early B-cell factor 1 | 1879 | 5 | 5q34 | yes |  | lipoma |  |  | M | Dom | T | HMGA2
EGFR | epidermal growth factor receptor (erythroblastic leukemia viral (v-erb-b) [NAME], avian) | 1956 | 7 | 7p12.3-p12.1 | yes | yes | glioma, NSCLC | NSCLC | Familial lung cancer | E, O | Dom | A, O, [NAME]
EIF4A2 | eukaryotic translation initiation factor 4A, isoform 2 | 1974 | 3 | 3q27.3 | yes |  | NHL |  |  | L | Dom | T | BCL6
ELF4 | E74-like factor 4 (ets domain transcription factor) | 2000 | X | Xq26 | yes |  | AML |  |  | L | Dom | T | ERG
ELK4 | ELK4, ETS-domain protein (SRF accessory protein 1) | 2005 | 1 | 1q32 | yes |  | prostate |  |  | E | Dom | T | SLC45A3
ELKS | ELKS protein | 23085 | 12 | 12p13.3 | yes |  | papillary thyroid |  |  | E | Dom | T | RET
ELL | ELL gene (11-19 lysine-rich leukemia gene) | 8178 | 19 | 19p13.1 | yes |  | AL |  |  | L | Dom | T | MLL
ELN | [NAME] | 2006 | 7 | 7q11.23 | yes |  | B-ALL |  |  | L | Dom | T | PAX5 | yes | [NAME], Cutis laxa , [NAME] Syndrome
EML4 | echinoderm microtubule associated protein like 4 | 27436 | 2 | 2p21 | yes |  | NSCLC |  |  | E | Dom | T | ALK
EP300 | 300 kd E1A-Binding protein gene | 2033 | 22 | 22q13 | yes |  | colorectal, breast, pancreatic, AML, ALL, DLBCL |  |  | L, E | Rec | T,  N, F, [NAME], O | MLL, RUNXBP2
EPS15 | epidermal growth factor receptor pathway substrate 15 (AF1p) | 2060 | 1 | 1p32 | yes |  | ALL |  |  | L | Dom | T | MLL
ERBB2 | v-erb-b2 erythroblastic leukemia viral oncogene homolog 2, neuro/glioblastoma derived oncogene homolog (avian) | 2064 | 17 | 17q21.1 | yes |  | breast, ovarian, other tumour types, NSCLC, gastric |  |  | E | Dom | A, [NAME], O
ERCC2 | excision repair cross-complementing rodent repair deficiency, complementation group 2 (xeroderma pigmentosum D) | 2068 | 19 | 19q13.2-q13.3 |  | yes |  | skin basal cell, skin squamous cell, melanoma | Xeroderma pigmentosum (D) | E | Rec | Mis, N, F, S
ERCC3 | excision repair cross-complementing rodent repair deficiency, complementation group 3 (xeroderma pigmentosum group B complementing) | 2071 | 2 | 2q21 |  | yes |  | skin basal cell, skin squamous cell, melanoma | Xeroderma pigmentosum (B) | E | Rec | Mis, S
ERCC4 | excision repair cross-complementing rodent repair deficiency, complementation group 4 | 2072 | 16 | 16p13.3-p13.13 |  | yes |  | skin basal cell, skin squamous cell, melanoma | Xeroderma pigmentosum (F) | E | Rec | Mis, N, F
ERCC5 | excision repair cross-complementing rodent repair deficiency, complementation group 5 (xeroderma pigmentosum, complementation group G (Cockayne syndrome)) | 2073 | 13 | 13q33 |  | yes |  | skin basal cell, skin squamous cell, melanoma | Xeroderma pigmentosum (G) | E | Rec | Mis, N, F
ERG | v-ets erythroblastosis virus E26 oncogene like (avian) | 2078 | 21 | 21q22.3 | yes |  | Ewing sarcoma, prostate, AML |  |  | M, E, L | Dom | T | EWSR1, TMPRSS2, ELF4, FUS, HERPUD1, NDRG1
ETV1 | ets variant gene 1 | 2115 | 7 | 7p22 | yes |  | Ewing sarcoma, prostate |  |  | M, E | Dom | T | EWSR1, TMPRSS2, SLC45A3, C15orf21, HNRNPA2B1. ACSL3
ETV4 | ets variant gene 4 (E1A enhancer binding protein, E1AF) | 2118 | 17 | 17q21 | yes |  | Ewing sarcoma, Prostate carcinoma |  |  | M, E | Dom | T | EWSR1, TMPRSS2, DDX5, [NAME], CANT1
ETV5 | ets variant gene 5 | 2119 | 3 | 3q28 | yes |  | Prostate |  |  | E | Dom | T | TMPRSS2, SCL45A3
ETV6 | ets variant gene 6 (TEL oncogene) | 2120 | 12 | 12p13 | yes |  | congenital fibrosarcoma, multiple leukemia and lymphoma,  secretory breast, MDS, ALL |  |  | L, E, M | Dom | T | NTRK3, [NAME], PDGFRB, ABL1, MN1, [NAME], FACL6, CHIC2, ARNT, JAK2, EVI1, CDX2, STL, HLXB9, MDS2, [NAME], SYK, TTL, FGFR3, PAX5
EVI1 | ecotropic viral integration site 1 | 2122 | 3 | 3q26 | yes |  | AML, CML |  |  | L | Dom | T | [NAME], [NAME], [NAME], RPN1
EWSR1 | Ewing sarcoma breakpoint region 1 (EWS) | 2130 | 22 | 22q12 | yes |  | Ewing sarcoma,  desmoplastic small round cell tumor , ALL, clear cell sarcoma, sarcoma, myoepithelioma |  |  | L, M | Dom | T | FLI1, ERG, ZNF278, NR4A3, FEV, ATF1, ETV1, ETV4, WT1, ZNF384, CREB1, POU5F1,  PBX1
EXT1 | multiple exostoses type 1 gene | 2131 | 8 | 8q24.11-q24.13 |  | yes |  | exostoses, osteosarcoma | Multiple Exostoses Type 1 | M | Rec | Mis, N, F, S
EXT2 | multiple exostoses type 2 gene | 2132 | 11 | 11p12-p11 |  | yes |  | exostoses, osteosarcoma | Multiple Exostoses Type 2 | M | Rec | Mis, N, F, S
EZH2 | enhancer of zeste homolog 2 | 2146 | 7 | 7q35-q36 | yes |  | DLBCL |  |  | L | Rec? | Mis
FACL6 | fatty-acid-coenzyme A ligase, long-chain 6 | 23305 | 5 | 5q31 | yes |  | AML, AEL |  |  | L | Dom | T | ETV6
FAM22A | family with sequence similarity 22, member A | 728118 | 10 | 10q23.2 | yes |  | edometrial stromal sarcoma |  |  | M | Dom | T | [NAME]
FAM22B | family with sequence similarity 22, member B | 729262 | 10 | 10q22.3 | yes |  | edometrial stromal sarcoma |  |  | M | Dom | T | [NAME]
FAM46C | family with sequence similarity 46, member C | 54855 | 1 | 1p12 | yes |  | MM |  |  | L | Rec | Mis, F, O
FANCA | Fanconi anemia, complementation group A | 2175 | 16 | 16q24.3 |  | yes |  | AML, leukemia | Fanconi anaemia A | L | Rec | D, Mis, N, F, S
FANCC | Fanconi anemia, complementation group C | 2176 | 9 | 9q22.3 |  | yes |  | AML, leukemia | Fanconi anaemia C | L | Rec | D, Mis, N, F, S
FANCD2 | Fanconi anemia, complementation group D2 | 2177 | 3 | 3p26 |  | yes |  | AML, leukemia | Fanconi anaemia D2 | L | Rec | D, Mis, N, F
FANCE | Fanconi anemia, complementation group E | 2178 | 6 | 6p21-p22 |  | yes |  | AML, leukemia | Fanconi anaemia E | L | Rec | N, F, S
FANCF | Fanconi anemia, complementation group F | 2188 | 11 | 11p15 |  | yes |  | AML, leukemia | Fanconi anaemia F | L | Rec | N, F
FANCG | Fanconi anemia, complementation group G | 2189 | 9 | 9p13 |  | yes |  | AML, leukemia | Fanconi anaemia G | L | Rec | Mis, N, F, S
FBXO11 | F-box protein 11 | 80204 | 2 | 2p16.3 | yes |  | DLBCL |  |  | L | Rec | Mis, F, D
[NAME] | F-box and WD-40 domain protein 7 (archipelago homolog, Drosophila) | 55294 | 4 | 4q31.3 | yes |  | colorectal, endometrial, T-ALL |  |  | E, L | Rec | Mis, N, D, F
FCGR2B | Fc fragment of IgG, low affinity IIb, receptor for (CD32) | 2213 | 1 | 1q23 | yes |  | ALL |  |  | L | Dom | T | ?
FEV | FEV protein - (HSRNAFEV) | 54738 | 2 | 2q36 | yes |  | Ewing sarcoma |  |  | M | Dom | T | EWSR1,  FUS
FGFR1 | fibroblast growth factor receptor 1 | 2260 | 8 | 8p11.2-p11.1 | yes |  | MPD, NHL |  |  | L | Dom | T | BCR, FOP, [NAME], CEP1 | yes | Pfeiffer syndrome, [NAME] syndrome
FGFR1OP | FGFR1 [NAME] (FOP) | 11116 | 6 | 6q27 | yes |  | MPD, NHL |  |  | L | Dom | T | FGFR1
FGFR2 | fibroblast growth factor receptor 2 | 2263 | 10 | 10q26 | yes |  | gastric. NSCLC, endometrial |  |  | E | Dom | Mis |  | yes | Crouzon, Pfeiffer, and [NAME] syndromes
FGFR3 | fibroblast growth factor receptor 3 | 2261 | 4 | 4p16.3 | yes |  | bladder, MM, T-cell lymphoma |  |  | L, E | Dom | Mis, T | IGH@, [NAME] | yes | Hypochondroplasia, Thanatophoric dysplasia
FH | fumarate hydratase | 2271 | 1 | 1q42.1 |  | yes |  | lieomyomatosis, renal | hereditary leiomyomatosis and renal cell cancer | E, M | Rec | Mis, N, F
FHIT | fragile histidine triad gene | 2272 | 3 | 3p14.2 | yes |  | pleomorphic salivary gland adenoma |  |  | E | Dom | T | HMGA2
FIP1L1 | FIP1 like 1 (S. cerevisiae) | 81608 | 4 | 4q12 | yes |  | idiopathic hypereosinophilic syndrome |  |  | L | Dom | T | PDGFRA
FLI1 | Friend leukemia virus integration 1 | 2313 | 11 | 11q24 | yes |  | Ewing sarcoma |  |  | M | Dom | T | EWSR1
FLJ27352 | BX648577, FLJ27352 hypothetical LOC145788 | 145788 | 15 | 15q21.3 | yes |  | PMBL, [NAME], |  |  | L | Dom | T | CIITA
FLT3 | fms-related tyrosine kinase 3 | 2322 | 13 | 13q12 | yes |  | AML, ALL |  |  | L | Dom | Mis, O
[NAME] | formin binding protein 1 (FBP17) | 23048 | 9 | 9q23 | yes |  | AML |  |  | L | Dom | T | MLL
FOXL2 | forkhead box L2 | 668 | 3 | 3q23 | yes |  | granulosa-cell tumour of the ovary |  |  | O | Dom | Mis |  | yes | Blepharophimosis, ptosis and epicanthus inversus [NAME] I, II; Premature ovarian failure type III
[NAME] | forkhead [NAME] (FKHR) | 2308 | 13 | 13q14.1 | yes |  | alveolar rhabdomyosarcomas |  |  | M | Dom | T | PAX3
FOXO3A | forkhead box O3A | 2309 | 6 | 6q21 | yes |  | AL |  |  | L | Dom | T | MLL
FOXP1 | forkhead box P1 | 27086 | 3 | 3p14.1 | yes |  | ALL |  |  | L | Dom | T | PAX5
FSTL3 | follistatin-like 3 (secreted glycoprotein) | 10272 | 19 | 19p13 | yes |  | B-CLL |  |  | L | Dom | T | CCND1
[NAME] | far upstream element (FUSE) binding protein 1 | 8880 | 1 | 1p13.1 | yes |  | oligodendroglioma |  |  | O | Rec | F, N
FUS | fusion, derived from t(12;16) malignant liposarcoma | 2521 | 16 | 16p11.2 | yes |  | liposarcoma, AML, Ewing sarcoma, angiomatoid fibrous histiocytoma, fibromyxoid sarcoma |  |  | M, L | Dom | T | DDIT3, ERG, FEV, ATF1, CREB3L2, CREB3L1
FVT1 | follicular lymphoma variant translocation 1 | 2531 | 18 | 18q21.3 | yes |  | B-NHL |  |  | L | Dom | T | IGK@
GAS7 | growth arrest-specific 7 | 8522 | 17 | 17p | yes |  | AML* |  |  | L | Dom | T | MLL
GATA1 | GATA binding protein 1 (globin transcription factor 1) | 2623 | X | Xp11.23 | yes |  | megakaryoblastic leukemia of Downs Syndrome |  |  | L | Dom | Mis, F
GATA2 | GATA binding protein 2 | 2624 | 3 | 3q21.3 | yes |  | AML(CML blast transformation) |  |  | L | Dom | Mis
GATA3 | GATA binding protein 3 | 2625 | 10 | 10p15 | yes |  | breast |  |  | E | Rec | F, N, S |  | yes | HDR syndrome (HYPOPARATHYROIDISM, SENSORINEURAL DEAFNESS, AND RENAL DISEASE)
GMPS | guanine monphosphate synthetase | 8833 | 3 | 3q24 | yes |  | AML |  |  | L | Dom | T | MLL
GNA11 | guanine nucleotide binding protein (G protein), alpha 11 (Gq class) | 2767 | 19 | 19p13.3 | yes |  | uveal melanoma |  |  | E | Dom | Mis
GNAQ | guanine nucleotide binding protein (G protein), q polypeptide | 2776 | 9 | 9q21 | yes |  | uveal melanoma |  |  | E | Dom | Mis
GNAS | guanine nucleotide binding protein (G protein), alpha stimulating activity polypeptide 1 | 2778 | 20 | 20q13.2 | yes |  | pituitary adenoma |  |  | E | Dom | Mis |  | yes | McCune-Albright syndrome; pseudohypoparathyroidism, type IA
GOLGA5 | golgi autoantigen, golgin subfamily a, 5  (PTC5) | 9950 | 14 | 14q | yes |  | papillary thyroid |  |  | E | Dom | T | RET
GOPC | golgi associated PDZ and coiled-coil motif containing | 57120 | 6 | 6q21 | yes |  | glioblastoma |  |  | O | Dom | O | ROS1
GPC3 | glypican 3 | 2719 | X | [NAME] |  | yes |  | Wilms tumour | Simpson-Golabi-Behmel syndrome | O | Rec/X | T, D, Mis, N, F, S
GPHN | gephyrin (GPH) | 10243 | 14 | 14q24 | yes |  | AL |  |  | L | Dom | T | MLL
GRAF | GTPase regulator associated with focal adhesion kinase pp125(FAK) | 23092 | 5 | 5q31 | yes |  | AML, MDS |  |  | L | Dom | T, F, S | MLL
HCMOGT-1 | sperm antigen HCMOGT-1 | 92521 | 17 | 17p11.2 | yes |  | JMML |  |  | L | Dom | T | PDGFRB
HEAB | ATP_GTP binding protein | 10978 | 11 | 11q12 | yes |  | AML |  |  | L | Dom | T | MLL
HERPUD1 | homocysteine-inducible, endoplasmic reticulum stress-inducible, ubiquitin-like domain member 1 | 9709 | 16 | 16q12.2-q13 | yes |  | prostate |  |  | E | Dom | T | ERG
[NAME] | hairy/enhancer-of-split related with YRPW motif 1 | 23462 | 8 | 8q21 | yes |  | mesenchymal chondrosarcoma |  |  | M | Dom | T | NCOA2
[NAME] | huntingtin interacting protein 1 | 3092 | 7 | 7q11.23 | yes |  | CMML |  |  | L | Dom | T | PDGFRB
HIST1H4I | histone 1, H4i (H4FM) | 8294 | 6 | 6p21.3 | yes |  | NHL |  |  | L | Dom | T | BCL6
HLF | hepatic leukemia factor | 3131 | 17 | 17q22 | yes |  | ALL |  |  | L | Dom | T | TCF3
HLXB9 | homeo box HB9 | 3110 | 7 | 7q36 | yes |  | AML |  |  | L | Dom | T | ETV6 | yes | CURRARINO SYNDROME
HMGA1 | high mobility group AT-hook 1 | 3159 | 6 | 6p21 | yes |  | microfollicular thyroid adenoma,  various benign mesenchymal tumors, |  |  | E, M | Dom | T | ?
HMGA2 | high mobility group AT-hook 2 (HMGIC) | 8091 | 12 | 12q15 | yes |  | lipoma, leiomyoma, pleiomorphic salivary gland adenoma |  |  | M | Dom | T | LHFP, RAD51L1, LPP, COX6C, CMKOR1, NFIB, ALDH2, CCNB1IP1, EBF1, WIF1, FHIT
HNRNPA2B1 | heterogeneous nuclear ribonucleoprotein A2/B1 | 3181 | 7 | 7p15 | yes |  | prostate |  |  | E | Dom | T | ETV1
HOOK3 | hook homolog 3 | 84376 | 8 | 8p11.21 | yes |  | papillary thyroid |  |  | E | Dom | T | RET
HOXA11 | homeo box [NAME] | 3207 | 7 | 7p15-p14.2 | yes |  | CML |  |  | L | Dom | T | NUP98
HOXA13 | homeo box A13 | 3209 | 7 | 7p15-p14.2 | yes |  | AML |  |  | L | Dom | T | NUP98
HOXA9 | homeo box A9 | 3205 | 7 | 7p15-p14.2 | yes |  | AML* |  |  | L | Dom | T | NUP98, [NAME]
HOXC11 | homeo box C11 | 3227 | 12 | 12q13.3 | yes |  | AML |  |  | L | Dom | T | NUP98
HOXC13 | homeo box C13 | 3229 | 12 | 12q13.3 | yes |  | AML |  |  | L | Dom | T | NUP98
HOXD11 | homeo box D11 | 3237 | 2 | 2q31-q32 | yes |  | AML |  |  | L | Dom | T | NUP98
HOXD13 | homeo box D13 | 3239 | 2 | 2q31-q32 | yes |  | AML* |  |  | L | Dom | T | NUP98
HRAS | [NAME] rat sarcoma viral oncogene homolog | 3265 | 11 | 11p15.5 | yes | yes | infrequent sarcomas, rare other types | rhadomyosarcoma, ganglioneuroblastoma, bladder | Costello syndrome | E, L, M | Dom | Mis
HRPT2 | hyperparathyroidism 2 | 3279 | 1 | 1q21-q31 | yes | yes | parathyroid adenoma | parathyroid adenoma, mulitiple ossifying [NAME] | Hyperparathyroidism-jaw tumor syndrome | E, M | Rec | Mis, N, F
HSPCA | heat shock 90kDa protein 1, alpha | 3320 | 14 | 14q32.31 | yes |  | NHL |  |  | L | Dom | T | BCL6
HSPCB | heat shock 90kDa protein 1, beta | 3326 | 6 | 6p12 | yes |  | NHL |  |  | L | Dom | T | BCL6
IDH1 | isocitrate dehydrogenase 1 (NADP+), soluble | 3417 | 2 | 2q33.3 | yes |  | gliobastoma |  |  | O | Dom | Mis
IDH2 | socitrate dehydrogenase 2 (NADP+), mitochondrial | 3418 | 15 | 15q26.1 | yes |  | GBM |  |  | M | Dom | M
IGH@ | immunoglobulin heavy locus | 3492 | 14 | 14q32.33 | yes |  | MM, [NAME] lymphoma, NHL, CLL, B-ALL, MALT, MLCLS |  |  | L | Dom | T | MYC, FGFR3,PAX5, IRTA1, IRF4, CCND1, BCL9, BCL8, BCL6, [NAME], [NAME], BCL10, [NAME], [NAME], [NAME], PAFAH1B2, PCSK7, CRLF2
IGK@ | immunoglobulin kappa locus | 50802 | 2 | 2p12 | yes |  | [NAME] lymphoma, B-NHL |  |  | L | Dom | T | MYC, FVT1
IGL@ | immunoglobulin lambda locus | 3535 | 22 | 22q11.1-q11.2 | yes |  | [NAME] lymphoma |  |  | L | Dom | T | BCL9, MYC, CCND2
IKZF1 | [NAME] family zinc finger 1 | 10320 | 7 | 7p12.2 | yes |  | ALL, DLBCL |  |  | L | Rec,Dom | D,T | BCL6
IL2 | interleukin 2 | 3558 | 4 | 4q26-q27 | yes |  | intestinal T-cell lymphoma |  |  | L | Dom | T | TNFRSF17
IL21R | interleukin 21 receptor | 50615 | 16 | 16p11 | yes |  | NHL |  |  | L | Dom | T | BCL6
IL6ST | interleukin 6 signal transducer (gp130, oncostatin M receptor) | 3572 | 5 | 5q11 | yes |  | hepatocellular ca |  |  | E | Dom | O
IL7R | interleukin 7 receptor | 146661 | 5 | 5p13 | yes |  | ALL |  |  | L | Dom | Mis, O |  | yes | Severe combined immune deficiency
IRF4 | interferon regulatory factor 4 | 3662 | 6 | 6p25-p23 | yes |  | MM |  |  | L | Dom | T | IGH@
IRTA1 | immunoglobulin superfamily receptor translocation associated 1 | 83417 | 1 | 1q21 | yes |  | B-NHL |  |  | L | Dom | T | IGH@
ITK | IL2-inducible T-cell kinase | 3702 | 5 | 5q31-q32 | yes |  | peripheral T-cell lymphoma |  |  | L | Dom | T | SYK
[NAME] | Janus kinase 1 | 3716 | 1 | 1p32.3-p31.3 | yes |  | ALL |  |  | L | Dom | Mis
JAK2 | Janus kinase 2 | 3717 | 9 | 9p24 | yes |  | ALL, AML, MPD,  CML |  |  | L | Dom | T, [NAME], O | ETV6, PCM1, BCR
[NAME] | Janus kinase 3 | 3718 | 19 | 19p13.1 | yes |  | acute megakaryocytic leukemia, |  |  | L | Dom | Mis
JAZF1 | juxtaposed with another zinc finger gene 1 | 221895 | 7 | 7p15.2-p15.1 | yes |  | endometrial stromal tumours |  |  | M | Dom | T | SUZ12
JUN | [NAME] | 3725 | 1 | 1p32-p31 | yes |  | sarcoma |  |  | M | Dom | A
KDM5A | lysine (K)-specific demethylase 5A, JARID1A | 5927 | 12 | 12p11 | yes |  | AML |  |  | L | Dom | T | NUP98
KDM5C | lysine (K)-specific demethylase 5C (JARID1C) | 8242 | X | [NAME] | yes |  | clear cell renal carcinoma |  |  | E | Rec | N, F, S
KDM6A | lysine (K)-specific demethylase 6A, UTX | 7403 | X | Xp11.2 | yes |  | renal, oesophageal SCC, MM |  |  | E, L | Rec | D, N, F, S
KDR | vascular endothelial growth factor receptor 2 | 3791 | 4 | 4q11-q12 | yes |  | NSCLC, angiosarcoma |  |  | E | Dom | Mis
KIAA1549 | KIAA1549 | 57670 | 7 | 7q34 | yes |  | pilocytic astrocytoma |  |  | O | Dom | O | BRAF
KIT | v-kit Hardy-Zuckerman 4 feline sarcoma viral oncogene homolog | 3815 | 4 | 4q12 | yes | yes | GIST, AML, TGCT, mastocytosis, mucosal melanoma | GIST, epithelioma | Familial gastrointestinal stromal tumour | L, M, O, E | Dom | Mis, O |  | yes | Piebald trait
[NAME] | kallikrein-related peptidase 2 | 3817 | 19 | 19q13.41 | yes |  | prostate |  |  | E | Dom | T | ETV4
KRAS | [NAME] rat sarcoma 2 viral oncogene homolog | 3845 | 12 | 12p12.1 | yes |  | pancreatic, colorectal, lung, thyroid, AML, others |  |  | L, E, M, O | Dom | Mis
KTN1 | [NAME]kinesin receptor) | 3895 | 14 | 14q22.1 | yes |  | papillary thryoid |  |  | E | Dom | T | RET
LAF4 | lymphoid nuclear protein related to AF4 | 3899 | 2 | 2q11.2-q12 | yes |  | ALL, T-ALL |  |  | L | Dom | T | MLL, [NAME]
LASP1 | LIM and SH3 protein 1 | 3927 | 17 | 17q11-q21.3 | yes |  | AML |  |  | L | Dom | T | MLL
LCK | lymphocyte-specific protein tyrosine kinase | 3932 | 1 | 1p35-p34.3 | yes |  | T-ALL |  |  | L | Dom | T | TRB@
LCP1 | lymphocyte cytosolic protein 1 (L-plastin) | 3936 | 13 | 13q14.1-q14.3 | yes |  | NHL |  |  | L | Dom | T | BCL6
LCX | leukemia-associated protein with a CXXC domain | 80312 | 10 | 10q21 | yes |  | AML |  |  | L | Dom | T | MLL
LHFP | lipoma HMGIC fusion partner | 10186 | 13 | 13q12 | yes |  | lipoma |  |  | M | Dom | T | HMGA2
LIFR | leukemia inhibitory factor receptor | 3977 | 5 | 5p13-p12 | yes |  | salivary adenoma |  |  | E | Dom | T | PLAG1
LMO1 | LIM domain only 1 (rhombotin 1) (RBTN1) | 4004 | 11 | 11p15 | yes | yes | T-ALL, neuroblastoma | neuroblastoma |  | L | Dom | T, A | TRD@
LMO2 | LIM domain only 2 (rhombotin-like 1) (RBTN2) | 4005 | 11 | 11p13 | yes |  | T-ALL |  |  | L | Dom | T | TRD@
LPP | LIM domain containing preferred translocation partner in lipoma | 4026 | 3 | 3q28 | yes |  | lipoma, leukemia |  |  | L, M | Dom | T | HMGA2, MLL, C12orf9
LYL1 | lymphoblastic leukemia derived sequence 1 | 4066 | 19 | 19p13.2-p13.1 | yes |  | T-ALL |  |  | L | Dom | T | TRB@
[NAME] | [NAME] of Drosophila Mothers Against [NAME] gene | 4089 | 18 | 18q21.1 | yes | yes | colorectal, pancreatic, small intestine | gastrointestinal polyps | Juvenile polyposis | E | Rec | D, Mis, N, F
MAF | v-maf musculoaponeurotic fibrosarcoma oncogene homolog | 4094 | 16 | 16q22-q23 | yes |  | MM |  |  | L | Dom | T | IGH@
MAFB | v-maf musculoaponeurotic fibrosarcoma oncogene homolog B (avian) | 9935 | 20 | 20q11.2-q13.1 | yes |  | MM |  |  | L | Dom | T | IGH@
MALT1 | mucosa associated lymphoid tissue lymphoma translocation gene 1 | 10892 | 18 | 18q21 | yes |  | MALT |  |  | L | Dom | T | BIRC3
[NAME] | mastermind-like 2 (Drosophila) | 84441 | 11 | 11q22-q23 | yes |  | salivary gland mucoepidermoid |  |  | E | Dom | T | MECT1, CRTC3
MAP2K4 | mitogen-activated protein kinase kinase 4 | 6416 | 17 | 17p11.2 | yes |  | pancreatic, breast, colorectal |  |  | E | Rec | D, Mis, N
MDM2 | Mdm2 p53 binding protein homolog | 4193 | 12 | 12q15 | yes |  | sarcoma, glioma, colorectal, other |  |  | M, O, E, L | Dom | A
MDM4 | Mdm4 p53 binding protein homolog | 4194 | 1 | 1q32 | yes |  | GBM, bladder, retinoblastoma |  |  | M | Dom | A
MDS1 | myelodysplasia syndrome 1 | 4197 | 3 | 3q26 | yes |  | MDS, AML |  |  | L | Dom | T | [NAME]
MDS2 | myelodysplastic syndrome 2 | 259283 | 1 | 1p36 | yes |  | MDS |  |  | L | Dom | T | ETV6
MECT1 | mucoepidermoid translocated 1 | 94159 | 19 | 19p13 | yes |  | salivary gland mucoepidermoid |  |  | E | Dom | T | [NAME]
MED12 | mediator complex subunit 12 | 9968 | X | Xq13 | yes |  | uterine leiomyoma |  |  | M | Dom | M, S |  | Yes | Opitz-Kaveggia Syndrome
MEN1 | multiple endocrine neoplasia type 1 gene | 4221 | 11 | 11q13 | yes | yes | parathyroid tumors, Pancreatic neuroendocrine tumors | parathyroid adenoma, pituitary adenoma, pancreatic islet cell, carcinoid | Multiple Endocrine Neoplasia Type 1 | E | Rec | D, Mis, N, F, S
MET | met proto-oncogene (hepatocyte growth factor receptor) | 4233 | 7 | 7q31 | yes |  | papillary renal, head-neck squamous cell | papillary renal | Familial Papillary Renal Cancer | E | Dom | Mis
MITF | microphthalmia-associated transcription factor | 4286 | 3 | 3p14.1 | yes |  | melanoma |  |  | E | Dom | A |  | yes | Waardenburg syndrome type 2, Tietz syndrome
MKL1 | megakaryoblastic leukemia (translocation) 1 | 57591 | 22 | 22q13 | yes |  | acute megakaryocytic leukemia |  |  | L | Dom | T | RBM15
MLF1 | myeloid leukemia factor 1 | 4291 | 3 | 3q25.1 | yes |  | AML |  |  | L | Dom | T | NPM1
MLH1 | E.coli MutL homolog gene | 4292 | 3 | 3p21.3 | yes | yes | colorectal, endometrial, ovarian, CNS | colorectal, endometrial, ovarian, CNS | Hereditary non-polyposis colorectal cancer, Turcot syndrome | E, O | Rec | D, Mis, N, F, S
MLL | myeloid/lymphoid or mixed-lineage leukemia (trithorax homolog, Drosophila) | 4297 | 11 | 11q23 | yes |  | AML, ALL |  |  | L | Dom | T, O | MLL, MLLT1, MLLT2, MLLT3, MLLT4, MLLT7, MLLT10, MLLT6, ELL, EPS15, [NAME], CREBBP, SH3GL1, [NAME], PNUTL1, MSF, GPHN, GMPS, SSH3BP1, [NAME], GAS7, FOXO3A, LAF4, LCX, [NAME], LPP, CBFA2T1, GRAF, EP300, PICALM, HEAB
MLL2 | myeloid/lymphoid or mixed-lineage leukemia 2 | 8085 | 12 | 12q12-q14 | yes |  | medulloblastoma, renal |  |  | O, E | Rec | N, F, Mis
MLL3 | myeloid/lymphoid or mixed-lineage leukemia 3 | 58508 | 7 | 7q36.1 | yes |  | medulloblastoma |  |  | O | Rec | N
MLLT1 | myeloid/lymphoid or mixed-lineage leukemia (trithorax homolog, Drosophila); translocated to, 1 (ENL) | 4298 | 19 | 19p13.3 | yes |  | AL |  |  | L | Dom | T | MLL
MLLT10 | myeloid/lymphoid or mixed-lineage leukemia (trithorax homolog, Drosophila); translocated to, 10 (AF10) | 8028 | 10 | 10p12 | yes |  | AL |  |  | L | Dom | T | MLL, PICALM, [NAME]
MLLT2 | myeloid/lymphoid or mixed-lineage leukemia (trithorax homolog, Drosophila); translocated to, 2 (AF4) | 4299 | 4 | 4q21 | yes |  | AL |  |  | L | Dom | T | MLL
MLLT3 | myeloid/lymphoid or mixed-lineage leukemia (trithorax homolog, Drosophila); translocated to, 3 (AF9) | 4300 | 9 | 9p22 | yes |  | ALL |  |  | L | Dom | T | MLL
MLLT4 | myeloid/lymphoid or mixed-lineage leukemia (trithorax homolog, Drosophila); translocated to, 4 (AF6) | 4301 | 6 | 6q27 | yes |  | AL |  |  | L | Dom | T | MLL
MLLT6 | myeloid/lymphoid or mixed-lineage leukemia (trithorax homolog, Drosophila); translocated to, 6 (AF17) | 4302 | 17 | 17q21 | yes |  | AL |  |  | L | Dom | T | MLL
MLLT7 | myeloid/lymphoid or mixed-lineage leukemia (trithorax homolog, Drosophila); translocated to, 7 ([NAME]) | 4303 | X | Xq13.1 | yes |  | AL |  |  | L | Dom | T | MLL
MN1 | meningioma (disrupted in balanced translocation) 1 | 4330 | 22 | 22q13 | yes |  | AML, meningioma |  |  | L, O | Dom | T | ETV6
MPL | myeloproliferative leukemia virus oncogene, thrombopoietin receptor | 4352 | 1 | p34 | yes | yes | MPD | MPD | Familial essential thrombocythemia | L | Dom | Mis |  | yes | congenital amegakaryocytic thrombocytopenia
MSF | MLL septin-like fusion | 10801 | 17 | 17q25 | yes |  | AML* |  |  | L | Dom | T | MLL
MSH2 | mutS homolog 2 (E. coli) | 4436 | 2 | [NAME] | yes | yes | colorectal, endometrial, ovarian | colorectal, endometrial, ovarian | Hereditary non-polyposis colorectal cancer | E | Rec | D, Mis, N, F, S
MSH6 | mutS homolog 6 (E. coli) | 2956 | 2 | 2p16 | yes | yes | colorectal | colorectal, endometrial, ovarian | Hereditary non-polyposis colorectal cancer | E | Rec | Mis, N, F, S
[NAME] | musashi homolog 2 (Drosophila) | 124540 | 17 | 17q23.2 | yes |  | CML |  |  | L | Dom | T | HOXA9
MSN | moesin | 4478 | X | Xq11.2-q12 | yes |  | ALCL |  |  | L | Dom | T | ALK
MTCP1 | mature T-cell proliferation 1 | 4515 | X | Xq28 | yes |  | T cell prolymphocytic leukemia |  |  | L | Dom | T | TRA@
[NAME] | mucin 1, transmembrane | 4582 | 1 | 1q21 | yes |  | B-NHL |  |  | L | Dom | T | IGH@
MUTYH | mutY homolog (E. coli) | 4595 | 1 | 1p34.3-1p32.1 |  | yes |  | colorectal | Adenomatous polyposis coli | E | Rec | Mis
MYB | [NAME] myeloblastosis viral oncogene homolog | 4602 | 6 | 6q22-23 | yes |  | adenoid cystic carcinoma |  |  | E | Dom | T | NFIB
MYC | v-myc myelocytomatosis viral oncogene homolog (avian) | 4609 | 8 | 8q24.12-q24.13 | yes |  | [NAME] lymphoma,  amplified in other cancers, B-CLL |  |  | L, E | Dom | A, T | IGK@, [NAME], BCL7A , BTG1, TRA@, IGH@
MYCL1 | v-myc myelocytomatosis viral oncogene homolog 1, lung carcinoma derived (avian) | 4610 | 1 | 1p34.3 | yes |  | small cell lung |  |  | E | Dom | A
MYCN | v-myc myelocytomatosis viral related oncogene, neuroblastoma derived (avian) | 4613 | 2 | 2p24.1 | yes |  | neuroblastoma |  |  | O | Dom | A
MYD88 | myeloid differentiation primary response gene (88) | 4615 | 3 | 3p22 | yes |  | ABC-DLBCL |  |  | L | Dom | Mis
MYH11 | [NAME], heavy polypeptide 11, smooth muscle | 4629 | 16 | 16p13.13-p13.12 | yes |  | AML |  |  | L | Dom | T | CBFB
MYH9 | [NAME], heavy polypeptide 9, non-muscle | 4627 | 22 | 22q13.1 | yes |  | ALCL |  |  | L | Dom | T | ALK | yes | Deafness, autosomal dominant 17, Epstein syndrome, Fechtner syndrome, May-Hegglin anomaly, Sebastian syndrome
MYST4 | [NAME] histone acetyltransferase (monocytic leukemia) 4 (MORF) | 23522 | 10 | 10q22 | yes |  | AML |  |  | L | Dom | T | CREBBP
NACA | nascent-polypeptide-associated complex alpha polypeptide | 4666 | 12 | 12q23-q24.1 | yes |  | NHL |  |  | L | Dom | T | BCL6
NBS1 | Nijmegen breakage syndrome 1 (nibrin) | 4683 | 8 | 8q21 |  | yes |  | NHL, glioma, medulloblastoma, rhabdomyosarcoma | Nijmegen breakage syndrome | L, E, M, O | Rec | Mis, N, F
NCOA1 | nuclear receptor coactivator 1 | 8648 | 2 | 2p23 | yes |  | alveolar rhadomyosarcoma |  |  | M | Dom | T | PAX3
NCOA2 | nuclear receptor coactivator 2 (TIF2) | 10499 | 8 | 8q13.1 | yes |  | AML, Chondrosarcoma |  |  | L | Dom | T | RUNXBP2, [NAME]
[NAME] | nuclear receptor coactivator 4 - PTC3 (ELE1) | 8031 | 10 | 10q11.2 | yes |  | papillary thyroid |  |  | E | Dom | T | RET
NDRG1 | N-myc downstream regulated 1 | 10397 | 8 | 8q24.3 | yes |  | prostate |  |  | E | Dom | T | ERG
NF1 | neurofibromatosis type 1 gene | 4763 | 17 | 17q12 | yes | yes | neurofibroma, glioma | neurofibroma, glioma | Neurofibromatosis type 1 | O | Rec | D, Mis, N, F, S, O
NF2 | neurofibromatosis type 2 gene | 4771 | 22 | 22q12.2 | yes | yes | meningioma, acoustic neuroma, renal | meningioma, acoustic neuroma | Neurofibromatosis type 2 | O | Rec | D, Mis, N, F, S, O
NFE2L2 | nuclear factor (erythroid-derived 2)-like 2 (NRF2) | 4780 | 2 | 2q31 | yes |  | NSCLC, HNSCC |  |  | E | Dom | Mis
NFIB | nuclear factor I/B | 4781 | 9 | 9p24.1 | yes |  | adenoid cystic carcinoma, lipoma |  |  | E | Dom | T | MYB, HGMA2
[NAME] | nuclear factor of kappa light polypeptide gene enhancer in B-cells 2 (p49/p100) | 4791 | 10 | 10q24 | yes |  | B-NHL |  |  | L | Dom | T | IGH@
NIN | [NAME] (GSK3B interacting protein) | 51199 | 14 | 14q24 | yes |  | MPD |  |  | L | Dom | T | PDGFRB
NKX2-1 | NK2 homeobox 1 | 7080 | 14 | 14q13 | yes |  | NSCLC |  |  | E | Dom | A
NONO | non-POU domain containing, octamer-binding | 4841 | X | Xq13.1 | yes |  | papillary renal cancer |  |  | E | Dom | T | TFE3
NOTCH1 | Notch homolog 1, translocation-associated (Drosophila) (TAN1) | 4851 | 9 | 9q34.3 | yes |  | T-ALL |  |  | L | Dom | T, [NAME], O | TRB@
NOTCH2 | Notch homolog 2 | 4853 | 1 | 1p13-p11 | yes |  | marginal zone lymphoma, DLBCL |  |  | L | Dom | N, F, Mis
NPM1 | nucleophosmin (nucleolar phosphoprotein B23, numatrin) | 4869 | 5 | 5q35 | yes |  | NHL, APL, AML |  |  | L | Dom | T, F | ALK, RARA, MLF1
NR4A3 | nuclear receptor subfamily 4, group A, member 3 (NOR1) | 8013 | 9 | 9q22 | yes |  | extraskeletal myxoid chondrosarcoma |  |  | M | Dom | T | EWSR1
NRAS | neuroblastoma RAS viral (v-ras) oncogene homolog | 4893 | 1 | 1p13.2 | yes |  | melanoma, MM, AML, thyroid |  |  | L, E | Dom | Mis
NSD1 | nuclear receptor binding SET domain protein 1 | 64324 | 5 | 5q35 | yes |  | AML |  |  | L | Dom | T | NUP98 | yes | Sotos Syndrome
NTRK1 | neurotrophic tyrosine kinase, receptor, type 1 | 4914 | 1 | 1q21-q22 | yes |  | papillary thyroid |  |  | E | Dom | T | TPM3, TPR, TFG
NTRK3 | neurotrophic tyrosine kinase, receptor, type 3 | 4916 | 15 | 15q25 | yes |  | congenital fibrosarcoma, Secretory breast |  |  | E, M | Dom | T | ETV6
NUMA1 | nuclear mitotic apparatus protein 1 | 4926 | 11 | 11q13 | yes |  | APL |  |  | L | Dom | T | RARA
NUP214 | nucleoporin 214kDa (CAN) | 8021 | 9 | 9q34.1 | yes |  | AML, T-ALL |  |  | L | Dom | T | DEK, SET, ABL1
NUP98 | [NAME] | 4928 | 11 | 11p15 | yes |  | AML |  |  | L | Dom | T | HOXA9, NSD1, WHSC1L1, DDX10, [NAME], HOXD13, PMX1, HOXA13, HOXD11, HOXA11, RAP1GDS1, HOXC11
OLIG2 | [NAME] factor 2 (BHLHB1) | 10215 | 21 | 21q22.11 | yes |  | T-ALL |  |  | L | Dom | T | TRA@
OMD | osteomodulin | 4958 | 9 | 9q22.31 | yes |  | aneurysmal bone cysts |  |  | M | Dom | T | USP6
P2RY8 | purinergic receptor P2Y, G-protein coupled, 8 | 286530 | X,Y | Xp22.3; Yp11.3 | yes |  | B-ALL, Downs associated ALL |  |  | L | Dom | T | CRLF2
PAFAH1B2 | platelet-activating factor acetylhydrolase, isoform Ib, beta subunit 30kDa | 5049 | 11 | 11q23 | yes |  | MLCLS |  |  | L | Dom | T | IGH@
PALB2 | partner and [NAME] of BRCA2 | 79728 | 16 | 16p12.1 |  | yes |  | Wilms tumor, medulloblastoma, AML ,breast | Fanconi anaemia N, breast cancer susceptibility | L, O, E | Rec | F, N, Mis
PAX3 | paired box gene 3 | 5077 | 2 | 2q35 | yes |  | alveolar rhabdomyosarcoma |  |  | M | Dom | T | FOXO1A, NCOA1 | yes | Waardenburg syndrome; craniofacial-deafness-hand syndrome
PAX5 | paired box gene 5 (B-cell lineage specific activator protein) | 5079 | 9 | 9p13 | yes |  | NHL, ALL, B-ALL |  |  | L | Dom | T, [NAME], D, F, S | IGH@, [NAME], PML, FOXP1, ZNF521, ELN
PAX7 | paired box gene 7 | 5081 | 1 | 1p36.2-p36.12 | yes |  | alveolar rhabdomyosarcoma |  |  | M | Dom | T | [NAME]
PAX8 | paired box gene 8 | 7849 | 2 | 2q12-q14 | yes |  | follicular thyroid |  |  | E | Dom | T | PPARG | yes | Thyroid dysgenesis
PBRM1 | polybromo 1 | 55193 | 3 | 3p21 | yes |  | clear cell renal carcinoma, breast |  |  | E | Rec | Mis, N, F, S, D, O
PBX1 | pre-B-cell leukemia transcription factor 1 | 5087 | 1 | 1q23 | yes |  | pre B-ALL, myoepithelioma |  |  | L, M | Dom | T | TCF3, EWSR1
PCM1 | pericentriolar material 1  (PTC4) | 5108 | 8 | 8p22-p21.3 | yes |  | papillary thyroid, CML, MPD |  |  | E, L | Dom | T | RET, JAK2
PCSK7 | proprotein convertase subtilisin/kexin type 7 | 9159 | 11 | 11q23.3 | yes |  | MLCLS |  |  | L | Dom | T | IGH@
PDE4DIP | phosphodiesterase 4D interacting protein (myomegalin) | 9659 | 1 | 1q12 | yes |  | MPD |  |  | L | Dom | T | PDGFRB
PDGFB | platelet-derived growth factor beta polypeptide (simian sarcoma viral (v-sis) [NAME]) | 5155 | 22 | 22q12.3-q13.1 | yes |  | DFSP |  |  | M | Dom | T | COL1A1
PDGFRA | platelet-derived growth factor, alpha-receptor | 5156 | 4 | 4q11-q13 | yes |  | GIST, idiopathic hypereosinophilic syndrome |  |  | L, M, O | Dom | Mis, O, T | FIP1L1
PDGFRB | platelet-derived growth factor receptor, beta polypeptide | 5159 | 5 | 5q31-q32 | yes |  | MPD, AML, CMML, CML |  |  | L | Dom | T | ETV6, TRIP11, [NAME], RAB5EP, H4, NIN, HCMOGT-1, PDE4DIP
[NAME] | period homolog 1 (Drosophila) | 5187 | 17 | 17p13.1-17p12 | yes |  | AML, CMML |  |  | L | Dom | T | ETV6
PHOX2B | paired-like homeobox 2b | 8929 | 4 | 4p12 | yes | yes | neuroblastoma | neuroblastoma | familial neuroblastoma | O | Rec | Mis, F |  | yes | congenital central hypoventilation syndrome
PICALM | phosphatidylinositol binding clathrin assembly protein (CALM) | 8301 | 11 | 11q14 | yes |  | TALL, AML, |  |  | L | Dom | T | MLLT10, MLL
PIK3CA | phosphoinositide-3-kinase, catalytic, alpha polypeptide | 5290 | 3 | 3q26.3 | yes |  | colorectal, gastric, gliobastoma, breast |  |  | E, O | Dom | Mis
PIK3R1 | phosphoinositide-3-kinase, regulatory subunit 1 (alpha) | 5295 | 5 | 5q13.1 | yes |  | gliobastoma, ovarian, colorectal |  |  | E, O | Rec | Mis, F, O
PIM1 | [NAME] | 5292 | 6 | 6p21.2 | yes |  | NHL |  |  | L | Dom | T | BCL6
PLAG1 | pleiomorphic adenoma gene 1 | 5324 | 8 | 8q12 | yes |  | salivary adenoma |  |  | E | Dom | T | TCEA1, LIFR, CTNNB1, CHCHD7
PML | promyelocytic leukemia | 5371 | 15 | 15q22 | yes |  | APL, ALL |  |  | L | Dom | T | RARA, PAX5
PMS1 | PMS1 postmeiotic segregation increased 1 (S. cerevisiae) | 5378 | 2 | 2q31-q33 |  | yes |  | colorectal, endometrial, ovarian | Hereditary non-polyposis colorectal cancer | E | Rec | Mis, N
PMS2 | PMS2 postmeiotic segregation increased 2 (S. cerevisiae) | 5395 | 7 | 7p22 |  | yes |  | colorectal, endometrial, ovarian, medulloblastoma, glioma | Hereditary non-polyposis colorectal cancer, Turcot syndrome | E | Rec | Mis, N, F
PMX1 | paired mesoderm homeo box 1 | 5396 | 1 | 1q24 | yes |  | AML |  |  | L | Dom | T | NUP98
PNUTL1 | peanut-like 1 (Drosophila) | 5413 | 22 | 22q11.2 | yes |  | AML |  |  | L | Dom | T | MLL
POU2AF1 | POU domain, class 2, associating factor 1 (OBF1) | 5450 | 11 | 11q23.1 | yes |  | NHL |  |  | L | Dom | T | BCL6
POU5F1 | POU domain, class 5, transcription factor 1 | 5460 | 6 | 6p21.31 | yes |  | sarcoma |  |  | M | Dom | T | EWSR1
PPARG | peroxisome proliferative activated receptor, gamma | 5468 | 3 | 3p25 | yes |  | follicular thyroid |  |  | E | Dom | T | PAX8 | yes | Insulin resistance ; lipodystrophy, familial partial L;diabetes mellitus, insulin-resistantI, with acanthosis nigricans and hypertension
[NAME] | protein phosphatase 2, regulatory subunit A, alpha | 5518 | 19 | 19q13.41 | yes |  | clear cell ovarian carcinoma |  |  | E | Dom? | Mis
PRCC | papillary renal cell carcinoma (translocation-associated) | 5546 | 1 | 1q21.1 | yes |  | papillary renal |  |  | E | Dom | T | TFE3
PRDM1 | PR domain containing 1, with ZNF domain | 639 | 6 | 6q21 | yes |  | DLBCL |  |  | L | Rec | D, N, [NAME], F, S
PRDM16 | PR domain containing 16 | 63976 | 1 | 1p36.23-p33 | yes |  | MDS, AML |  |  | L | Dom | T | EVI1
PRF1 | perforin 1 (pore forming protein) | 5551 | 10 | 10q22 |  | yes |  | various leukaemia, lymphoma |  | L | Rec | M |  |  | Type 2 familial hemophagocytic lymphohistiocytosis
PRKAR1A | [NAME], cAMP-dependent, regulatory, type I, alpha (tissue specific extinguisher 1) | 5573 | 17 | 17q23-q24 | yes | yes | papillary thyroid | myxoma, endocrine, papillary thyroid | Carney complex | E, M | Dom, Rec | T, Mis, N, F, S | RET
PRO1073 | PRO1073 protein (ALPHA) | 29005 | 11 | 11q31.1 | yes |  | renal cell carcinoma (childhood epithelioid) |  |  | E | Dom | T | TFEB
PSIP2 | PC4 and SFRS1 interacting protein 2 (LEDGF) | 11168 | 9 | 9p22.2 | yes |  | AML |  |  | L | Dom | T | NUP98
PTCH | [NAME] of Drosophila Patched gene | 5727 | 9 | 9q22.3 | yes | yes | skin basal cell , medulloblastoma | skin basal cell, medulloblastoma | [NAME] | E, M | Rec | Mis, N, F, S
PTEN | phosphatase and tensin homolog gene | 5728 | 10 | 10q23.3 | yes | yes | glioma,  prostate, endometrial | harmartoma, glioma,  prostate, endometrial | Cowden Syndrome, [NAME] syndrome | L, E, M, O | Rec | D, Mis, N, F, S
PTPN11 | protein tyrosine phosphatase, non-receptor type 11 | 5781 | 12 | 12q24.1 | yes |  | JMML, AML, MDS |  |  | L | Dom | Mis |  | yes | Noonan Syndrome
RAB5EP | rabaptin, RAB GTPase binding effector protein 1 (RABPT5) | 9135 | 17 | 17p13 | yes |  | CMML |  |  | L | Dom | T | PDGFRB
RAD51L1 | RAD51-like 1 (S. cerevisiae) (RAD51B) | 5890 | 14 | 14q23-q24.2 | yes |  | lipoma, uterine leiomyoma |  |  | M | Dom | T | HMGA2
[NAME] | v-raf-1 murine leukemia viral oncogene homolog 1 | 5894 | 3 | 3p25 | yes |  | pilocytic astrocytoma |  |  | M | Dom | T | SRGAP3
RALGDS | ral guanine nucleotide dissociation stimulator | 5900 | 9 | 9q34.3 | yes |  | PMBL, [NAME], |  |  | L | Dom | T | CIITA
RANBP17 | RAN binding protein 17 | 64901 | 5 | 5q34 | yes |  | ALL |  |  | L | Dom | T | TRD@
RAP1GDS1 | RAP1, GTP-GDP dissociation stimulator 1 | 5910 | 4 | 4q21-q25 | yes |  | T-ALL |  |  | L | Dom | T | NUP98
RARA | retinoic acid receptor, alpha | 5914 | 17 | 17q12 | yes |  | APL |  |  | L | Dom | T | PML, ZNF145, TIF1, NUMA1, NPM1
RB1 | retinoblastoma gene | 5925 | 13 | 13q14 | yes | yes | retinoblastoma, sarcoma, breast, small cell lung | retinoblastoma, sarcoma, breast, small cell lung | Familial retinoblastoma | L, E, M, O | Rec | D, Mis, N, F, S
RBM15 | RNA binding motif protein 15 | 64783 | 1 | 1p13 | yes |  | acute megakaryocytic leukemia |  |  | L | Dom | T | MKL1
RECQL4 | [NAME] protein-like 4 | 9401 | 8 | 8q24.3 |  | yes |  | osteosarcoma, skin basal and sqamous cell | Rothmund-Thompson Syndrome | M | Rec | N, F, S
REL | v-rel reticuloendotheliosis viral oncogene homolog (avian) | 5966 | 2 | 2p13-p12 | yes |  | [NAME] |  |  | L | Dom | A
RET | ret proto-oncogene | 5979 | 10 | 10q11.2 | yes | yes | medullary thyroid,  papillary thyroid, pheochromocytoma | medullary thyroid,  papillary thyroid, pheochromocytoma | Multiple endocrine neoplasia 2A/2B | E, O | Dom | T, Mis, N, F | H4, PRKAR1A, [NAME], PCM1, GOLGA5, TRIM33, KTN1, TRIM27, HOOK3 | yes | Hirschsprung disease
ROS1 | v-ros UR2 sarcoma virus oncogene homolog 1 (avian) | 6098 | 6 | 6q22 | yes |  | glioblastoma, NSCLC |  |  | O | Dom | T | GOPC, ROS1
RPL22 | ribosomal protein L22 (EAP) | 6146 | 1 | 1p36.31 | yes |  | AML, CML |  |  | L | Dom | T | [NAME]
RPN1 | ribophorin I | 6184 | 3 | [NAME] | yes |  | AML |  |  | L | Dom | T | EVI1
RUNDC2A | RUN domain containing 2A | 84127 | 16 | 16p13.13 | yes |  | PMBL, [NAME], |  |  | L | Dom | T | CIITA
[NAME] | runt-related transcription factor 1  (AML1) | 861 | 21 | 21q22.3 | yes |  | AML, preB- ALL, T-ALL |  |  | L | Dom | T | RPL22, MDS1, EVI1, CBFA2T3, CBFA2T1, [NAME], LAF4
RUNXBP2 | runt-related transcription factor binding protein 2 (MOZ/ZNF220) | 7994 | 8 | 8p11 | yes |  | AML |  |  | L | Dom | T | CREBBP, NCOA2, EP300
SBDS | [NAME] syndrome protein | 51119 | 7 | 7q11 |  | yes |  | AML, MDS | [NAME] syndrome | L | Rec | [NAME]
SDH5 | chromosome 11 open reading frame 79 | 54949 | 11 | 11q12.2 |  | yes |  | [NAME] | Familial paraganglioma | M | Rec | M
SDHB | succinate dehydrogenase complex, subunit B, iron sulfur (Ip) | 6390 | 1 | 1p36.1-p35 |  | yes |  | paraganglioma, pheochromocytoma | Familial paraganglioma | O | Rec | Mis, N, F
SDHC | succinate dehydrogenase complex, subunit C, integral membrane protein, 15kDa | 6391 | 1 | 1q21 |  | yes |  | paraganglioma, pheochromocytoma | Familial paraganglioma | O | Rec | Mis, N, F
SDHD | succinate dehydrogenase complex, subunit D, integral membrane protein | 6392 | 11 | 11q23 |  | yes |  | paraganglioma, pheochromocytoma | Familial paraganglioma | O | Rec | Mis, N, F, S
SEPT6 | septin 6 | 23157 | X | Xq24 | yes |  | AML |  |  | L | Dom | T | MLL
SET | SET translocation | 6418 | 9 | 9q34 | yes |  | AML |  |  | L | Dom | T | NUP214
SETD2 | SET domain containing 2 | 29072 | 3 | 3p21.31 | yes |  | clear cell renal carcinoma |  |  | E | Rec | N, F, S, [NAME]
SF3B1 | splicing factor 3b, subunit 1, 155kDa | 23451 | 2 | 2q33.1 | yes |  | myelodysplastic syndrome |  |  | L | Dom | Mis
SFPQ | splicing factor proline/glutamine rich(polypyrimidine tract binding protein associated) | 6421 | 1 | 1p34.3 | yes |  | papillary renal cell |  |  | E | Dom | T | TFE3
SFRS3 | splicing factor, arginine/serine-rich 3 | 6428 | 6 | 6p21 | yes |  | follicular lymphoma |  |  | L | Dom | T | BCL6
SH3GL1 | SH3-domain GRB2-like 1 (EEN) | 6455 | 19 | 19p13.3 | yes |  | AL |  |  | L | Dom | T | MLL
SIL | TAL1 (SCL) interrupting locus | 6491 | 1 | 1p32 | yes |  | T-ALL |  |  | L | Dom | T | TAL1
SLC45A3 | solute carrier family 45, member 3 | 85414 | 1 | 1q32 | yes |  | prostate |  |  | E | Dom | T | ETV1, ETV5, ELK4, ERG
SMARCA4 | SWI/SNF related, matrix associated, actin dependent regulator of chromatin, subfamily a, member 4 | 6597 | 19 | 19p13.2 | yes |  | NSCLC |  |  | E | Rec | F, N, Mis
SMARCB1 | SWI/SNF related, matrix associated, actin dependent regulator of chromatin, subfamily b, member 1 | 6598 | 22 | 22q11 | yes | yes | malignant rhabdoid | malignant rhabdoid | Rhabdoid predisposition syndrome | M | Rec | D, N, F, S
SMO | smoothened homolog (Drosophila) | 6608 | 7 | 7q31-q32 | yes |  | skin basal cell |  |  | E | Dom | Mis
SOCS1 | suppressor of cytokine signaling 1 | 8651 | 16 | 16p13.13 | yes |  | [NAME], PMBL |  |  | L | Rec | F, O
SOX2 | SRY (sex determining region Y)-box 2 | 6657 | 3 | 3q26.3-q27 | yes |  | NSCLC, oesophageal squamous carcinoma |  |  | E | Dom | A |  | yes | MICROPHTHALMIA AND ESOPHAGEAL ATRESIA SYNDROME
SRGAP3 | SLIT-ROBO Rho GTPase activating protein 3 | 9901 | 3 | 3p25.3 | yes |  | pilocytic astrocytoma |  |  | M | Dom | T | [NAME]
SRSF2 | serine/arginine-rich splicing factor 2 | 6427 | 17 | 17q25 | yes |  | MDS, CLL |  |  | L | Dom | Mis
SS18 | synovial sarcoma translocation, chromosome 18 | 6760 | 18 | 18q11.2 | yes |  | synovial sarcoma |  |  | M | Dom | T | SSX1,  SSX2
SS18L1 | synovial sarcoma translocation gene on chromosome 18-like 1 | 26039 | 20 | 20q13.3 | yes |  | synovial sarcoma |  |  | M | Dom | T | SSX1
SSH3BP1 | spectrin SH3 domain binding protein 1 | 10006 | 10 | 10p11.2 | yes |  | AML |  |  | L | Dom | T | MLL
SSX1 | synovial sarcoma, X breakpoint 1 | 6756 | X | Xp11.23-p11.22 | yes |  | synovial sarcoma |  |  | M | Dom | T | SS18
SSX2 | synovial sarcoma, X breakpoint 2 | 6757 | X | Xp11.23-p11.22 | yes |  | synovial sarcoma |  |  | M | Dom | T | SS18
SSX4 | synovial sarcoma, X breakpoint 4 | 6759 | X | Xp11.23 | yes |  | synovial sarcoma |  |  | M | Dom | T | SS18
STK11 | serine/threonine kinase 11 gene (LKB1) | 6794 | 19 | 19p13.3 | yes | yes | NSCLC, pancreatic | jejunal harmartoma, ovarian, testicular, pancreatic | Peutz-Jeghers syndrome | E, M, O | Rec | D, Mis, N, F, S
STL | Six-twelve leukemia gene | 7955 | 6 | 6q23 | yes |  | B-ALL |  |  | L | Dom | T | ETV6
SUFU | suppressor of fused homolog (Drosophila) | 51684 | 10 | 10q24.32 | yes | yes | medulloblastoma | medulloblastoma | Medulloblastoma predisposition | O | Rec | D, F, S
SUZ12 | suppressor of zeste 12 homolog (Drosophila) | 23512 | 17 | 17q11.2 | yes |  | endometrial stromal tumours |  |  | M | Dom | T | JAZF1
SYK | [NAME] | 6850 | 9 | 9q22 | yes |  | MDS, peripheral T-cell lymphoma |  |  | L | Dom | T | ETV6, ITK
TAF15 | TAF15 RNA polymerase II, TATA box binding protein (TBP)-associated factor, 68kDa | 8148 | 17 | 17q11.1-q11.2 | yes |  | extraskeletal myxoid chondrosarcomas, ALL |  |  | L, M | Dom | T | TEC, CHN1, ZNF384
TAL1 | T-cell acute lymphocytic leukemia 1 (SCL) | 6886 | 1 | 1p32 | yes |  | lymphoblastic leukemia/biphasic |  |  | L | Dom | T | TRD@, SIL
TAL2 | T-cell acute lymphocytic leukemia 2 | 6887 | 9 | 9q31 | yes |  | T-ALL |  |  | L | Dom | T | TRB@
TCEA1 | transcription elongation factor A (SII), 1 | 6917 | 8 | 8q11.2 | yes |  | salivary adenoma |  |  | E | Dom | T | PLAG1
TCF1 | transcription factor 1, hepatic (HNF1) | 6927 | 12 | 12q24.2 | yes | yes | hepatic adenoma, hepatocellular ca | hepatic adenoma, hepatocellular ca | Familial Hepatic Adenoma | E | Rec | Mis, F |  | yes | Maturity-onset diabetes of the young, TYPE III
TCF12 | transcription factor 12 (HTF4, helix-loop-helix transcription factors 4) | 6938 | 15 | 15q21 | yes |  | extraskeletal myxoid chondrosarcoma |  |  | M | Dom | T | TEC
TCF3 | transcription factor 3 (E2A immunoglobulin enhancer binding factors E12/E47) | 6929 | 19 | 19p13.3 | yes |  | pre B-ALL |  |  | L | Dom | T | PBX1, HLF, TFPT
TCF7L2 | transcription factor 7-like 2 | 6934 | 10 | 10q25.3 | yes |  | colorectal |  |  | E | Dom | T | VTI1A
TCL1A | T-cell leukemia/lymphoma 1A | 8115 | 14 | 14q32.1 | yes |  | T-CLL |  |  | L | Dom | T | TRA@
TCL6 | T-cell leukemia/lymphoma 6 | 27004 | 14 | 14q32.1 | yes |  | T-ALL |  |  | L | Dom | T | TRA@
TET2 | [NAME] family member 2 | 54790 | 4 | 4q24 | yes |  | MDS |  |  | L | Rec | Mis N, F
TFE3 | transcription factor binding to IGHM enhancer 3 | 7030 | X | [NAME] | yes |  | papillary renal, alveolar soft part sarcoma, renal |  |  | E | Dom | T | SFPQ, ASPSCR1, PRCC, NONO, CLTC
TFEB | transcription factor [NAME] | 7942 | 6 | 6p21 | yes |  | renal (childhood epithelioid) |  |  | E,M | Dom | T | ALPHA
TFG | TRK-fused gene | 10342 | 3 | 3q11-q12 | yes |  | papillary thyroid, ALCL, NSCLC |  |  | E, L | Dom | T | NTRK1, ALK
TFPT | TCF3 (E2A) fusion partner (in childhood [NAME]) | 29844 | 19 | 19q13 | yes |  | pre-B ALL |  |  | L | Dom | T | TCF3
TFRC | [NAME] (p90, CD71) | 7037 | 3 | 3q29 | yes |  | NHL |  |  | L | Dom | T | BCL6
THRAP3 | thyroid hormone receptor associated protein 3 (TRAP150) | 9967 | 1 | 1p34.3 | yes |  | aneurysmal bone cysts |  |  | M | Dom | T | USP6
TIF1 | transcriptional intermediary factor 1  (PTC6,TIF1A) | 8805 | 7 | 7q32-q34 | yes |  | APL |  |  | L | Dom | T | RARA
[NAME] | T-cell leukemia, homeobox 1 (HOX11) | 3195 | 10 | 10q24 | yes |  | T-ALL |  |  | L | Dom | T | TRB@, TRD@
TLX3 | T-cell leukemia, homeobox 3 (HOX11L2) | 30012 | 5 | 5q35.1 | yes |  | T-ALL |  |  | L | Dom | T | BCL11B
TMPRSS2 | [NAME], serine 2 | 7113 | 21 | 21q22.3 | yes |  | prostate |  |  | E | Dom | T | ERG, ETV1, ETV4, ETV5
TNFAIP3 | tumor necrosis factor, alpha-induced protein 3 | 7128 | 6 | 6q23 | yes |  | marginal zone B-cell lymphomas, [NAME]'s lymphoma, primary mediastinal B cell lymphoma |  |  | L | Rec | D, N, F
TNFRSF14 | tumor necrosis factor receptor superfamily, member 14 (herpesvirus entry mediator) | 8764 | 1 | 1p36.32 | yes |  | follicular lymphoma |  |  | L | Rec | Mis, N, F
TNFRSF17 | tumor necrosis factor receptor superfamily, member 17 | 608 | 16 | 16p13.1 | yes |  | intestinal T-cell lymphoma |  |  | L | Dom | T | IL2
TNFRSF6 | tumor necrosis factor receptor superfamily, member 6 (FAS) | 355 | 10 | 10q24.1 | yes |  | TGCT, nasal NK/T lymphoma, skin squamous cell ca -burn scar-related |  |  | L, E, O | Rec | Mis |  | yes | Autoimmune lymphoproliferative syndrome
TOP1 | topoisomerase (DNA) I | 7150 | 20 | 20q12-q13.1 | yes |  | AML* |  |  | L | Dom | T | NUP98
TP53 | tumor protein p53 | 7157 | 17 | 17p13 | yes | yes | breast, colorectal, lung, sarcoma, adrenocortical, glioma, multiple other tumour types | breast, sarcoma, adrenocortical carcinoma, glioma, multiple other tumour types | [NAME] syndrome | L, E, M, O | Rec | Mis, N, F
TPM3 | tropomyosin 3 | 7170 | 1 | 1q22-q23 | yes |  | papillary thyroid, ALCL |  |  | E, L | Dom | T | NTRK1, ALK
TPM4 | tropomyosin 4 | 7171 | 19 | 19p13.1 | yes |  | ALCL |  |  | L | Dom | T | ALK
TPR | translocated promoter region | 7175 | 1 | 1q25 | yes |  | papillary thyroid |  |  | E | Dom | T | NTRK1
TRA@ | T cell receptor alpha locus | 6955 | 14 | 14q11.2 | yes |  | T-ALL |  |  | L | Dom | T | ATL,OLIG2, MYC, TCL1A, TCL6, MTCP1, TCL6
TRB@ | T cell receptor beta locus | 6957 | 7 | 7q35 | yes |  | T-ALL |  |  | L | Dom | T | HOX11, LCK, NOTCH1, TAL2, LYL1
TRD@ | T cell receptor delta locus | 6964 | 14 | 14q11 | yes |  | T-cell leukemia |  |  | L | Dom | T | TAL1, HOX11, [NAME], LMO1, [NAME], RANBP17
TRIM27 | tripartite motif-containing 27 | 5987 | 6 | 6p22 | yes |  | papillary thyroid |  |  | E | Dom | T | RET
TRIM33 | tripartite motif-containing 33 (PTC7,TIF1G) | 51592 | 1 | 1p13 | yes |  | papillary thyroid |  |  | E | Dom | T | RET
TRIP11 | thyroid hormone receptor interactor 11 | 9321 | 14 | 14q31-q32 | yes |  | AML |  |  | L | Dom | T | PDGFRB
[NAME] | tuberous sclerosis 1 gene | 7248 | 9 | 9q34 |  | yes |  | hamartoma, renal cell | Tuberous sclerosis 1 | E, O | Rec | D, Mis, N, F, S
TSC2 | tuberous sclerosis 2 gene | 7249 | 16 | 16p13.3 |  | yes |  | hamartoma, renal cell | Tuberous sclerosis 2 | E, O | Rec | D, Mis, N, F, S
TSHR | thyroid stimulating hormone receptor | 7253 | 14 | 14q31 | yes | yes | toxic thyroid adenoma | thyroid  adenoma |  | E | Dom | Mis |  | yes | Hereditary nonautoimmune hyperthyroidism; subclinical hypothyroidism
TTL | tubulin tyrosine ligase | 150465 | 2 | 2q13 | yes |  | ALL |  |  | L | Dom | T | ETV6
U2AF1 | U2 small nuclear RNA auxiliary factor 1 | 7307 | 21 | 21q22.3 | yes |  | CLL, MDS |  |  | L | Dom | Mis
USP6 | ubiquitin specific peptidase 6 (Tre-2 oncogene) | 9098 | 17 | 17p13 | yes |  | aneurysmal bone cysts |  |  | M | Dom | T | COL1A1, CDH11, ZNF9, OMD
VHL | [NAME] syndrome gene | 7428 | 3 | 3p25 | yes | yes | renal, hemangioma, pheochromocytoma | renal, hemangioma, pheochromocytoma | [NAME] syndrome | E, M, O | Rec | D, Mis, N, F, S
VTI1A | vesicle transport through interaction with t-SNAREs homolog 1A | 143187 | 10 | 10q25.2 | yes |  | colorectal |  |  | E | Dom | T | TCF7L2
WAS | [NAME] syndrome | 7454 | X | Xp11.23-p11.22 |  |  |  | lymphoma | [NAME] syndrome | L | X-linked recessive | Mis, N, F, S
WHSC1 | Wolf-Hirschhorn syndrome candidate 1(MMSET) | 7468 | 4 | 4p16.3 | yes |  | MM |  |  | L | Dom | T | IGH@
WHSC1L1 | Wolf-Hirschhorn syndrome candidate 1-like 1 (NSD3) | 54904 | 8 | 8p12 | yes |  | AML |  |  | L | Dom | T | NUP98
WIF1 | WNT inhibitory factor 1 | 11197 | 12 | 12q14.3 | yes |  | pleomorphic salivary gland adenoma |  |  | E | Dom | T | HMGA2
WRN | [NAME] syndrome (RECQL2) | 7486 | 8 | 8p12-p11.2 |  | yes |  | osteosarcoma, meningioma, others | [NAME] | L, E, M, O | Rec | Mis, N, F, S
WT1 | Wilms tumour 1 gene | 7490 | 11 | 11p13 | yes | yes | Wilms, desmoplastic small round cell tumor | Wilms | Denys-Drash syndrome, [NAME] syndrome, Familial Wilms tumor | O | Rec | D, Mis, N, F, S | EWSR1
WTX | family with sequence similarity 123B (FAM123B) | 139285 | X | Xq11.1 | yes |  | Wilms tumour |  |  | O | Rec | F, D, N, Mis
XPA | xeroderma pigmentosum, complementation group A | 7507 | 9 | 9q22.3 |  | yes |  | skin basal cell, skin squamous cell, melanoma | Xeroderma pigmentosum (A) | E | Rec | Mis, N, F, S
XPC | xeroderma pigmentosum, complementation group C | 7508 | 3 | 3p25 |  | yes |  | skin basal cell, skin squamous cell, melanoma | Xeroderma pigmentosum (C) | E | Rec | Mis, N, F, S
XPO1 | exportin 1 (CRM1 homolog, yeast) | 7514 | 2 | 2p15 | yes |  | CLL |  |  | L | Dom | Mis
[NAME] | tyrosine 3-monooxygenase/tryptophan 5-monooxygenase activation protein, epsilon polypeptide (14-3-3 epsilon) | 7531 | 17 | 17p13.3 | yes |  | edometrial stromal sarcoma |  |  | M | Dom | T | FAM22a, FAM22B | yes | Miller-Dieker lissencephaly syndrome
ZNF145 | zinc finger protein 145 (PLZF) | 7704 | 11 | 11q23.1 | yes |  | APL |  |  | L | Dom | T | RARA
ZNF198 | zinc finger protein 198 | 7750 | 13 | 13q11-q12 | yes |  | MPD, NHL |  |  | L | Dom | T | FGFR1
ZNF278 | zinc finger protein 278 (ZSG) | 23598 | 22 | 22q12-q14 | yes |  | Ewing sarcoma |  |  | M | Dom | T | EWSR1
ZNF331 | zinc finger protein 331 | 55422 | 19 | 19q13.3-q13.4 | yes |  | follicular thyroid adenoma |  |  | E | Dom | T | ?
ZNF384 | zinc finger protein 384 (CIZ/NMP4) | 171017 | 12 | 12p13 | yes |  | ALL |  |  | L | Dom | T | EWSR1, TAF15
ZNF521 | zinc finger protein 521 | 25925 | 18 | 18q11.2 | yes |  | ALL |  |  | L | Dom | T | PAX5
ZNF9 | zinc finger protein 9 (a cellular retroviral nucleic acid binding protein) | 7555 | 3 | 3q21 | yes |  | aneurysmal bone cysts |  |  | M | Dom | T | USP6
[NAME] | zinc finger (CCCH type), RNA-binding motif and serine/arginine rich 2 | 8233 | X | Xp22.1 | yes |  | MDS, CLL |  |  | L | Rec | F, S, [NAME]