CRKL | 22q11.21 | | Somatic | -Chronic Myelogenous Leukemia -Lung Cancer
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DGCR8 | 22q11.21 | Gy1, pasha, DGCRK6, C22orf12 | | -Bladder Cancer -Breast Cancer -Cervical Cancer -Esophageal Cancer -Ewing's Sarcoma -Liver Cancer -Prostate Cancer -Skin Cancer -Wilms Tumour
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CLTCL1 | 22q11.21 | CLTD, CHC22, CLH22, CLTCL | Somatic | |
SEPT5 | 22q11.21 | H5, CDCREL, PNUTL1, CDCREL1, CDCREL-1, HCDCREL-1 | Somatic | -Acute Myeloid Leukaemia -Breast Cancer -Chronic Myelogenous Leukemia -Esophageal Cancer -Haematological Malignancies
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BID | 22q11.21 | FP497 | | |
COMT | 22q11.21 | HEL-S-98n | | -Bladder Cancer -Breast Cancer -Prostate Cancer -Stomach Cancer
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MAPK1 | 22q11.22 | ERK, p38, p40, p41, ERK2, ERT1, ERK-2, MAPK2, PRKM1, PRKM2, P42MAPK, p41mapk, p42-MAPK | | -Bladder Cancer -Cervical Cancer -Eye Cancer -Salivary Gland Cancer -Skin Cancer -Stomach Cancer -Thyroid Cancer -Uterine Sarcoma
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IGL | 22q11.22 | IGL@, IGLC6 | Somatic | -Chronic Lymphocytic Leukemia -Lymphoma -Multiple Myeloma -Non-Hodgkin Lymphoma
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PRAME | 22q11.22 | MAPE, OIP4, CT130, OIP-4 | | -Acute Lymphocytic Leukaemia (ALL) -Acute Myeloid Leukaemia -Breast Cancer -Chronic Lymphocytic Leukemia -Chronic Myelogenous Leukemia -Leukaemia -Melanoma -Skin Cancer
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MIF | 22q11.23 | GIF, GLIF, MMIF | | -Brain Tumours, Childhood -Breast Cancer -Lung Cancer -Lung Cancer, Non-Small Cell -Neuroblastoma -Prostate Cancer -Soft Tissue Sarcoma -Stomach Cancer
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MMP11 | 22q11.23 | ST3, SL-3, STMY3 | Overexpression | Many cancer types including: -Breast Cancer -Esophageal Cancer -Lung Cancer -Skin Cancer -Uterine Sarcoma
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GSTT2 | 22q11.23 | | | |
GSTT1 | 22q11.23 | | | -Breast Cancer -Colorectal Cancer -Head and Neck Cancers -Liver Cancer -Lung Cancer -Melanoma -Oral Cavity Cancer -Squamous Cell Carcinoma - Skin -Testicular Cancer -Thyroid Cancer
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SMARCB1 | 22q11.23 | RDT, CSS3, INI1, SNF5, Snr1, BAF47, MRD15, RTPS1, Sfh1p, hSNFS, SNF5L1, SWNTS1, PPP1R144 | Germline & Somatic | -Brain Tumours, Childhood -Kidney Cancer -Neurofibromatosis -Rhabdoid Tumours -Skin Cancer -Soft Tissue Sarcoma -Wilms Tumour
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BCR | 22q11.23 | ALL, CML, PHL, BCR1, D22S11, D22S662 | Somatic Translocation | -Acute Lymphocytic Leukaemia (ALL) -Acute Myeloid Leukaemia -Breast Cancer -Chronic Myelogenous Leukemia -Ewing's Sarcoma -Leukaemia
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CHEK2 | 22q12.1 | CDS1, CHK2, LFS2, RAD53, hCds1, HuCds1, PP1425 | Germline | -Breast Cancer -Colorectal Cancer -Osteosarcoma -Ovarian Cancer -Prostate Cancer -Thyroid Cancer
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XBP1 | 22q12.1 | XBP2, TREB5, XBP-1, TREB-5 | | -Breast Cancer -Liver Cancer -Multiple Myeloma
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ZNRF3 | 22q12.1 | RNF203, BK747E2.3 | | -Adrenocortical Cancer -Lung Cancer -Stomach Cancer
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MN1 | 22q12.1 | MGCR, MGCR1, MGCR1-PEN, dJ353E16.2 | Somatic | -Acute Myeloid Leukaemia -Leukaemia
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LIF | 22q12.2 | CDF, DIA, HILDA, MLPLI | | -Breast Cancer -Ewing's Sarcoma
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PATZ1 | 22q12.2 | ZSG, MAZR, PATZ, RIAZ, ZBTB19, ZNF278, dJ400N23 | Somatic | -Bone Cancer (primary) -Breast Cancer -Ewing's Sarcoma -Lung Cancer -Ovarian Cancer -Soft Tissue Sarcoma
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EWSR1 | 22q12.2 | EWS, EWS-FLI1, bK984G1.4 | Somatic Translocation | -Bladder Cancer -Bone Cancer (primary) -Chondrosarcoma -DSRC -Ewing's Sarcoma -Salivary Gland Cancer -Skin Cancer -Soft Tissue Sarcoma -Uterine Sarcoma -Vulvar Cancer
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NF2 | 22q12.2 | ACN, SCH, BANF | Germline & Somatic | -Acoustic Neuroma -Brain Tumours, Childhood -Mesothelioma -Neurofibromatosis -Rhabdoid Tumours -Skin Cancer
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IL2RB | 22q12.3 | CD122, IL15RB, P70-75 | | -Colorectal Cancer -Soft Tissue Sarcoma
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HMOX1 | 22q12.3 | HO-1, HSP32, HMOX1D, bK286B10 | | -Breast Cancer -Prostate Cancer -Skin Cancer -Stomach Cancer
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MYH9 | 22q12.3 | MHA, FTNS, EPSTS, BDPLT6, DFNA17, NMMHCA, NMHC-II-A, NMMHC-IIA | Somatic | -Acute Myeloid Leukaemia -Breast Cancer -Colorectal Cancer -Lung Cancer -Prostate Cancer
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LARGE1 | 22q12.3 | LARGE, MDC1D, MDDGA6, MDDGB6 | | -Prostate Cancer -Skin Cancer
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MCM5 | 22q12.3 | CDC46, P1-CDC46 | | -Bladder Cancer -Breast Cancer -Cervical Cancer -Prostate Cancer -Urinary System Cancers -Vulvar Cancer
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TIMP3 | 22q12.3 | SFD, K222, K222TA2, HSMRK222 | | -Bladder Cancer -Breast Cancer -Colorectal Cancer -Head and Neck Cancers -Liver Cancer -Lung Cancer -Paranasal Sinus and Nasal Cavity Cancer -Soft Tissue Sarcoma -Stomach Cancer
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SSTR3 | 22q13.1 | SS3R, SS3-R, SS-3-R, SSR-28 | | -Carcinoid Tumours -Lung Cancer -Pancreatic Cancer -Pituitary Tumors -Stomach Cancer -Thyroid Cancer
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CBX7 | 22q13.1 | | | -Bladder Cancer -Brain Tumours, Childhood -Lung Cancer -Prostate Cancer -Stomach Cancer -Thyroid Cancer
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RAC2 | 22q13.1 | Gx, EN-7, HSPC022, p21-Rac2 | | -Brain Tumours, Childhood -Breast Cancer -Chronic Myelogenous Leukemia -Liver Cancer -Ovarian Cancer
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PDGFB | 22q13.1 | SIS, SSV, IBGC5, PDGF2, c-sis, PDGF-2 | Somatic Translocation | -Brain Stem Glioma, Childhood -Brain Tumours, Childhood -Breast Cancer -Dermatofibrosarcoma Protuberans
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SOX10 | 22q13.1 | DOM, WS4, PCWH, WS2E, WS4C | | -Brain Stem Glioma, Childhood -Brain Tumours, Childhood -Eye Cancer -Melanoma -Skin Cancer
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ATF4 | 22q13.1 | CREB2, TXREB, CREB-2, TAXREB67 | | -Breast Cancer
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LGALS1 | 22q13.1 | GBP, GAL1 | | -Bladder Cancer -Breast Cancer -Colorectal Cancer -Lung Cancer -Pancreatic Cancer -Stomach Cancer
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MKL1 | 22q13.1-q13.2 | MAL, BSAC, MRTF-A | Somatic Translocation | -Breast Cancer -Leukaemia -Liver Cancer
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RBX1 | 22q13.2 | ROC1, RNF75, BA554C12.1 | | -Breast Cancer -Kidney Cancer -Melanoma -von Hippel-Lindau Disease
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XRCC6 | 22q13.2 | ML8, KU70, TLAA, CTC75, CTCBF, G22P1 | | -Bladder Cancer -Breast Cancer -Cervical Cancer -Leukaemia -Liver Cancer -Lung Cancer -Ovarian Cancer -Prostate Cancer -Skin Cancer -Stomach Cancer -Thyroid Cancer
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TSPO | 22q13.2 | DBI, IBP, MBR, PBR, PBS, BPBS, BZRP, PKBS, PTBR, mDRC, pk18 | | -Breast Cancer -Colorectal Cancer -Thyroid Cancer -Uterine Sarcoma
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EP300 | 22q13.2 | p300, KAT3B, RSTS2 | Somatic | -Breast Cancer -Esophageal Cancer -Lung Cancer -Ovarian Cancer -Rubinstein-Taybi Syndrome -Stomach Cancer
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CYP2D6 | 22q13.2 | CPD6, CYP2D, CYP2DL1, CYPIID6, P450C2D, P450DB1, CYP2D7AP, CYP2D7BP, CYP2D7P2, CYP2D8P2, P450-DB1 | | -Breast Cancer -Skin Cancer -Thyroid Cancer
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BIK | 22q13.2 | BP4, NBK, BIP1 | | -Breast Cancer -Urinary System Cancers
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MIRLET7B | 22q13.31 | LET7B, let-7b, MIRNLET7B, hsa-let-7b | | -Breast Cancer -Eye Cancer -Lung Cancer -Small Cell Lung Cancer -Melanoma -Ovarian Cancer -Salivary Gland Cancer -Uterine Sarcoma
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MLC1 | 22q13.33 | VL, LVM, MLC | | |