SNPMiner Trials by Shray Alag

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Report for Mutation C10D

Developed by Shray Alag, 2020.
SNP Clinical Trial Gene

There is one clinical trial.

Clinical Trials

1 Implementing Non-invasive Circulating Tumor DNA Analysis to Optimize the Operative and Postoperative Treatment for Patients With Colorectal Cancer - Intervention Trial 2

IMPROVE-IT2 is a randomized multicenter trial comparing the outcomes of ctDNA guided post-operative surveillance and standard-of-care CT-scan surveillance. The hypothesis of this study is that ctDNA guided post-operative surveillance combining ctDNA and radiological assessments could result in earlier detection of recurrent disease and identify more patients eligible for curative treatment.

NCT04084249 Colorectal Cancer Colo-rectal Cancer ctDNA Gastro-Intestinal Disorder Colorectal Neoplasms Gastrointestinal Cancer Gastrointestinal Neoplasms Digestive System Disease Digestive System Neoplasm Colonic Diseases Colonic Neoplasms Colonic Cancer Rectal Diseases Rectal Neoplasms Rectal Cancer Diagnostic Test: ctDNA-analysis Other: Intensified Follow-up Schedule
MeSH:Colorectal Neoplasms Rectal Neoplasms Gastrointestinal Neoplasms Colonic Neoplasms Digestive System Neoplasms Gastrointestinal Diseases Colonic Diseases Rectal Diseases Intestinal Diseases Neoplasms Digestive System Diseases
HPO:Abnormal intestine morphology Abnormality of the gastrointestinal tract Colon cancer Malignant gastrointestinal tract tumors Neoplasm Neoplasm of the colon Neoplasm of the gastrointestinal tract Neoplasm of the large intestine Neoplasm of the rectum

QoL/Utility weights for the quality-adjusted life years parameter will be QLU-C10D based on EORTC QLQ-C30.. Inclusion Criteria: - Colon or rectal cancer, tumor stage III (pT1-4N1-2,cM0) or stage II high-risk (pT4N0,cM0 and pT3N0, cM0 with risk factors) - Have received curative intend resection and be candidates for adjuvant chemotherapy Exclusion Criteria: - Not treated with adjuvant chemotherapy - Synchronous colorectal and non-colorectal cancer diagnosed per-operative (except skin cancer other than melanoma) - Other cancers (excluding colorectal cancer or skin cancer other than melanoma) within 3 years from screening - Patients who are unlikely to comply with the protocol (e.g. --- C10D ---

Primary Outcomes

Description: Fraction of patients with relapse receiving intended curative resection or local treatment aiming at complete tumor destruction as defined at the relevant MDT conference.

Measure: FCI

Time: 5 years

Secondary Outcomes

Description: Overall survival at 3 years

Measure: 3yr-OS

Time: 3 years

Description: Overall survival at 5 years

Measure: 5yr-OS

Time: 5 years

Description: Time to clinical recurrence

Measure: TTCR

Time: 3 years

Description: Time to molecular recurrence

Measure: TTMR

Time: 2 years

Description: Quality of Life by use of EORTC QLQ-C30, version 3.0. The QoL outcome measure is differences in QLQ-C30 score at 12, 24 and 36 months between the experimental and control arm.

Measure: QoL

Time: 3 years

Description: Fear of Cancer Recurrence Inventory. The FCRI outcome measure is differences in FCRI at 12, 24 and 36 months between the experimental and control arm.

Measure: FCRI

Time: 3 years

Description: Impact of Events Scale Cancer. The IES-C outcome measure is differences in IES-C at 12, 24 and 36 months between the experimental and control arm.

Measure: IES-C

Time: 3 years

Description: Cost-effectiveness. QoL/Utility weights for the quality-adjusted life years parameter will be QLU-C10D based on EORTC QLQ-C30.

Measure: CE

Time: 5 years

HPO Nodes

HP:0011024: Abnormality of the gastrointestinal tract
Genes 2049
CTBP1 PRSS1 EDN3 INSR ELP1 KCNAB2 ARHGAP31 FGFR3 ABCB1 EPCAM AICDA POLG ADCY6 CASP10 TBP GPR35 TK2 MYLK TMEM138 SLC52A3 CHMP1A SCN8A ARHGEF6 HCCS SNCA GLA WDR35 CCR1 WWOX CCR6 TTC7A GFPT1 PTCH1 PTF1A NUP133 LAMC2 NR4A2 VPS13A B9D1 PIK3CA NUP62 AXIN1 ARX AP1B1 ERBB2 SERPINA1 INS CDH1 CEP57 CAMK2B BSCL2 PIEZO2 BCOR KIT REEP1 TCTN2 SLX4 MECP2 MITF CHRNG BCOR ACADVL SFTPC SLC19A2 HGSNAT BUB3 DHODH LIPA NALCN ANTXR2 ARL3 ATRX SCARB2 FCGR2A SQSTM1 PLP1 LYST DDHD2 FOXF1 EDNRB ARSA F11 TEK AP1S1 SI DICER1 SFTPA2 MYO9A RHBDF2 MDM2 WT1 MMP1 IGHM FGF8 SALL4 MTTP DGUOK SRP54 ATXN8OS NEXMIF DSP COLQ EEF1A2 TUBB4A LTBP4 ACTA2 UFD1 LETM1 DDC TDGF1 KIAA0586 ZFYVE26 CTC1 TARDBP RFXANK SH2B1 RARS1 ICOS MECP2 LPIN2 IRF5 PTPRJ GPC1 KITLG JAK2 WIPF1 RAD50 SLC9A6 HBB LRRK2 PPP2R5D ATP7B EP300 HFE FREM1 CLTC VANGL1 ANKRD11 DEAF1 SPG7 SIN3A PYGM HESX1 INAVA HLA-DRB1 ACTG2 WAS DACT1 DOK7 FGFR2 ZFP57 IL23R FANCL DIS3L2 LBR EFTUD2 DCHS1 UBA5 SMAD4 NOP56 NEK1 ERLIN2 DNMT3B DMPK BRCA1 BCR CEP41 MRPS34 GP1BA IQSEC2 RETREG1 CARS2 MSH6 CREBBP OTC POLG APC PLG STK11 SLC25A1 PARS2 HBB MITF IGLL1 IRAK1 ATRX TPM3 DNAJB6 ND6 AKT1 RRM2B TERT TRAPPC12 TP53 BMPR1A MAD2L2 ZMPSTE24 ATXN7 MED12 CHAMP1 FOXP3 RTEL1 APC IL12RB1 TRNL1 NODAL MSH6 TANGO2 DYNC2H1 PEX13 SLC18A3 SPG7 SNCA NEK1 MEOX1 CAV1 FA2H CDKN1C USP7 PTEN ERMARD RFWD3 PIGN RPL10 COL5A2 BLM NDUFAF3 H19 ABL1 PYGL IRF1 CHRM3 CDC45 FTL GDAP2 TCF4 HIVEP2 MAPT APC GRHL3 DLL1 FLVCR1 PRKCD PIK3CA CDC6 RECQL4 MSH3 MED12 BRCA2 PALB2 SDHC SDHD DNM1 COL13A1 KIT CHCHD10 MNX1 RTTN KEAP1 APC PMS2 FKRP POLG ABCC6 SDHB TGFB3 UBTF TRNF EPHX1 SCN4A CCDC28B ERLIN2 APC ATXN8OS AURKA AMER1 FUS PRDM16 PLA2G6 AP2S1 ADAMTS3 TP53 PLOD1 GMNN HYOU1 ITGB4 MYF6 TPM3 SPG11 SLC9A6 MBTPS2 COG4 RREB1 CHRNE SDHC NPHP3 CFTR PAH SLC5A1 XRCC1 WWOX WASHC5 AKR1D1 PHOX2B FAT4 PITX2 VAMP1 RET MEN1 PEX19 ITGA2 NXN BDNF LMOD1 SOX10 FBLN5 ANTXR2 TMTC3 HELLS RAD51D KIF5A DYNC2I1 KCNJ11 KRAS FLT1 RECQL4 SP110 PPP2R3C HLA-B ABCA3 CNTNAP1 DGAT1 FAS CNKSR2 MBTPS2 ATXN8 MMP21 DISP1 FCSK PDGFRL SOX10 RIPK4 LRP2 AXIN2 PTPN22 SEMA4A TWNK NRAS EDN3 FLAD1 RTEL1 ASCL1 CYFIP2 GRM1 TLR2 PIK3CA CENPF CCBE1 VPS35 GJB1 ASXL1 CDC73 APC SOX2 WT1 ATXN3 MKS1 ATP7A TWIST2 F8 TBX4 UBR1 SMAD4 TRIM28 GP1BB REV3L NEDD4L CYP7B1 TGFB1 PIK3CA EPRS1 SBDS ATP1A3 GFI1 RAD51 PTCHD1 ACSL4 ATN1 SLC6A8 PEX11B TERT ADAT3 B4GALNT1 LIG4 MAPT NFKB1 GBA TWIST1 RNF43 ALG3 VAMP1 BMPR1A FGFR2 TET2 POLR3B EXT2 SMC3 HRAS SLC25A22 TBK1 MAP2K2 MECR APC XIAP RAC2 CDC73 MS4A1 ERGIC1 BRAF CRKL CDK4 RELA PTS APP GRHL2 STAT4 GFI1B HOXB1 CBS PIGO TCOF1 ALS2 RLIM ADAMTS3 APC PIGL ACTB RAD51C PAK3 ENG GUCY2C L1CAM TUBB4A PRNP TMEM67 GLMN TBX1 IL12A MLH1 PTPN12 MLH3 SETD5 ITGA2B CCDC22 APPL1 COL14A1 POGZ PHKG2 DDOST ND4 CNTNAP2 PARN SMAD4 UBB PRKAR1A PIGW DMD KRT18 POLG GP1BB NRTN PHKA2 ITGA8 UPB1 HLA-DRB1 TRNV PSAP TGFBR1 MSH2 AHI1 KIF7 NDUFB11 RAI1 C12ORF65 PDE8B RPL11 SCN3A TNFSF15 SLC6A3 FLNA CCN2 FAT4 KDM6A TBX3 RPS6KA3 EFL1 OSGEP PPM1D PIGY TMEM231 LIMK1 SOX3 LBR MINPP1 PDX1 PSAP HNF1A KIFBP CD79A AFF4 LIG4 SLC6A9 ARL6 DNM2 ELN KIT GBE1 RRM2B PRSS2 GNAQ ADA2 FGFRL1 SDHC GDNF PDP1 HABP2 FAM13A SALL4 WDR4 SYNJ1 SAA1 ADD3 CDKL5 BMPR1A CHRNA1 TRAK1 KANSL1 PLG SLC5A7 PHGDH PSTPIP1 ROR2 HMGA2 NCF4 POLG TNFRSF13B TRNQ CDKN2A POLR1D XYLT2 ATXN3 IL1RAPL1 GABRA2 KMT2A CYBC1 MTOR SRCAP MYD88 COL13A1 LMAN1 MYMK B2M DOCK6 LRP2 MGMT GCH1 TOP3A F2 SIX3 FRAS1 PABPN1 EDN3 IRF5 SDHD SOX2 SKI GP1BB CORIN PITX2 AGGF1 RPGRIP1L DLL4 C1R RERE H19-ICR MAPK1 SPINK5 LAMA2 MYH8 FANCB TGFB1 GBA RAD51 AR HNRNPH2 SLC18A3 SELENON UBR1 TRIM28 FOS PUS3 TSPAN7 HFE TSPYL1 C2CD3 TNFAIP3 SPP1 CNTNAP1 SEMA3D PLEC IGF2 LEMD3 HLA-DPB1 RFXAP TMEM216 FARS2 PFN1 TRNS1 TECPR2 LMNA ADAMTS2 ARX TWNK TRNH PIGV C9ORF72 CACNA1A TMEM237 PALB2 MAPT ALS2 RPL10 MYO9A PEX14 IL12A ERCC4 SLC6A5 CTHRC1 CDH11 REST CAV1 CC2D2A SRP54 DHCR24 ABCC8 ACD STN1 ARNT2 NSD2 ITGA6 ATXN2 ATP2A2 NECAP1 BCL10 SKIV2L G6PC PDGFRB WNK1 ENPP1 STAT6 FGB NEUROD1 BRCA2 SOD1 LAMC2 ZBTB24 STXBP1 SYT1 COX1 CCND1 NSUN2 TYMP ZFPM2 RPGRIP1L RAD51C LMNA COL7A1 ITCH CD3E MYO5B BRCA1 ATP7A RYR1 PRTN3 EMC1 PYCR1 CISD2 ZEB2 CYBB POLD1 HOXD13 SNAI2 PTS KCNA2 ZNF711 BMP2 ELN MUTYH PLVAP F10 RYR1 TERT SLC25A24 FBXO7 RET AHCY COL5A1 FAT4 KIT GATA6 KCNQ1OT1 EDNRB RNF6 GDI1 PIK3C2A CAV1 STRA6 PIEZO1 MMEL1 BUB1 CIITA ABCC6 COX2 WNT4 STOX1 IRF5 CDKN2B HPRT1 USP9X INTU HDAC4 SPECC1L CTNS MGME1 FAS TPM2 CCND1 CPLANE1 H19-ICR ODC1 SAR1B PEX2 TERT BRCA1 SON COL7A1 DPP9 STAT1 MTM1 BRAF OPA1 IRF6 LIFR RRM2B GBA CBL SDHB TRIP4 KLHL7 SDHD SLC46A1 NUP62 ATXN3 ADH1C NOP10 MPI IFT80 SEC63 SPRTN ACTL6B GDF6 FTSJ1 CDH1 TREX1 SRCAP TOP3A MDM2 FUS RIPK1 COX7B IGHM CLMP MYH11 EMC1 SAMD9 PTEN GLI3 MAPT SLC29A3 SERPING1 GP1BA COG8 ADAM17 ATP1A3 PANK2 FBLN5 NEB PNLIP CSPP1 CD19 GNAO1 CXORF56 KLHL41 DCTN4 ECE1 FRAS1 BLK EDNRB SEMA3E FANCF NTRK2 MYO1H AKR1D1 PIK3R5 TBX3 CHD7 CFTR CC2D2A NBN MAN2B1 CHRND ZIC2 MYO5B SNAI2 PLEC SH3KBP1 KAT6A FANCG FUZ HDAC8 NIPBL YY1 ASXL1 NEB MYOT KATNIP ITGA2B PTRH2 SLC2A10 FCGR2C COQ2 CDKL5 ALDOB ALDH18A1 FANCI TNFRSF1A MLH1 TWNK PIGN GABBR2 EYA1 ZAP70 TP63 TPRKB BUB1 CYP7B1 POLR3A SFTPA1 TTBK2 SPG21 CARMIL2 ACTA1 RTEL1 PROKR2 EWSR1 SLCO1B3 DPYS ASXL1 TNPO3 TGFBR2 MECP2 REPS1 ERCC4 SLC46A1 NOTCH1 TSC2 ABCC6 BAX FAN1 QDPR ZNF423 TRIP4 BMPR1A NDUFAF2 ARHGAP29 VPS33A NOTCH2 MLH1 FOXP3 DACT1 CRYAB TWNK DYSF CACNA1A KLLN ENG ELANE PLXND1 INPP5E YARS2 SYT1 LMX1B EDNRB ATXN2 WAS USP27X PIGT DHCR7 TK2 FBN2 PIEZO2 TP63 RASGRP1 PSPH POGZ CIITA PSEN1 NRXN1 FGG PNKD TMEM237 NEFH BMPR1A CACNA1A POU2AF1 EHMT1 COX4I2 KIF1A MYPN MLH3 NOTCH3 RPL10 DACT1 TSPYL1 SLC25A13 TP53 PQBP1 FRG1 FOXG1 ITGB4 RARB CEP290 FOXC1 GRIP1 VAMP1 SRP54 GLI2 ORC4 NOP56 WDR73 C19ORF12 CD79B KAT6B EBF3 SPG21 RAD51 AAGAB PACS1 SRSF2 TP53RK IDH1 KRAS CHEK2 RET PPP3CA F9 FBXL4 TP53 WHCR COL1A1 KLHL40 HMBS HCCS MSH2 SLC5A7 ARF1 CLMP AP1S1 LMNB1 NOTCH2 FERMT1 GLRA1 VAC14 ITGB2 MSX1 VCP MCM6 PIK3R1 PEX16 USF3 NOP10 DNAJC21 SCN9A MTTP LIPA CCNQ TNFSF12 STUB1 ACTA1 GMPPA SDHA USP9X NHP2 SLC35A2 NBN CAMTA1 PEX3 PYROXD1 CD109 HPGD EIF2AK3 ENG SKI CASP8 GATA6 UBA5 SIK1 USP9X MBTPS2 PHOX2B TPM3 APC MAP1B DKC1 ERLIN2 WDR73 PITX2 FGFR1 ARID2 SYT14 JAK2 EPCAM KMT2D SLC6A8 CLCN4 NEB F7 KRAS FMR1 BLNK POMT1 BACH2 GBA SLC13A5 ARID1B STK11 STAT3 SPINK1 TCF4 GPC3 MEFV NEB CTLA4 SACS BRIP1 ATRX TYMP TTC37 SALL4 SMO IGH CHD7 STN1 PEX1 NFIX ND4 GPC3 MLH3 FAH MSH2 POLG2 CCND1 MSH3 NCAPG2 ATP7A MCEE STX3 MEGF10 ATP1A3 GIGYF2 COLQ TCF4 RUNX1 TRNK ORC6 DCLRE1C HRAS FGA SETBP1 RAI1 SLC35A2 SLC37A4 TFAP2A PTCH1 SEMA3E CHST14 CEP120 IL1RN INPP5E MUTYH PALB2 PEX10 STUB1 NUP107 COL7A1 CACNA1B WRN TRAPPC12 CD3G BRAF IL10RB POU6F2 RAD21 F12 DAXX C4A MNX1 GREB1L FLCN TPM2 RPS6KA3 EXOSC9 LRP12 CTNNB1 FANCA KLHL7 WFS1 MST1 PEX12 DSE NCF4 KRAS SLC2A2 VARS1 GEMIN4 TCTN1 NECTIN1 UROD ALDH18A1 F5 TAF1 XRCC2 TTC7A WFS1 ASCL1 IL1B TERF2IP NTNG1 TRAPPC11 FGFR2 OCRL ZSWIM6 SUZ12 ARL13B ERCC2 AGPAT2 TINF2 KCNB1 HSD3B7 ATP11A TAF1 CEP104 UBQLN2 GTF2IRD1 ND5 MUC5B FANCB FAS RAD21 NPC1 MYH3 GPIHBP1 SCN4A COL18A1 CEP57 PSAP SMARCD1 BAP1 FANCM FGA PLEC AGRN POLG ACTA1 GPC4 MACF1 SNCAIP PRKCG XRCC4 TET2 DIS3L2 TGFB1 ARMC9 SDHB MAP2K2 NCF1 PIK3CA CHMP2B CLIP2 COG6 COMT POR XYLT1 STAT4 GP1BA HLA-DRB1 GLIS3 PLAA ERAP1 MAFB TRMT5 SOX5 APC PCGF2 ENPP1 NOTCH1 PPP2R5D HIRA DKC1 TGFBR2 DKK1 MSH6 RNF125 TGFBR2 PTDSS1 CPLX1 WFS1 PMS1 VWF MMP1 SEC23B TJP2 DYNC2I2 ZNF41 TEK CHRM3 PCSK1 RERE STX1A IRF2BPL PLA2G2A RNF43 HLA-B POLG RMRP FGG WNT3 MKS1 BRCA2 IL2RB LMNB1 TRNL1 KCNK9 SIX6 GREM1 PARN PAX4 ACOX2 MEFV PRKRA C11ORF95 SYP SDHB PACS1 PLAGL1 GLRB NDUFS1 KCNC3 HNF1A RFXANK ND3 SEMA3C SLC9A7 SOX10 ND6 MED12 RPS20 FGFR2 KMT2A AGA NOTCH3 FGF12 ACTG2 PIBF1 NCF1 CR2 IL2RA MYC SLC7A7 CAVIN1 TIMM8A KCNQ1 NFKB2 EIF4G1 DLX4 IFNGR1 KCNA2 NBN GCK FREM1 ALG8 CTC1 DNM1L FGFR2 SRC RET CDKN2B SMAD3 TRNL1 POLR3A HDAC8 TUBB6 THOC6 FGFR1 DCTN1 CHEK2 PIK3CA DHCR7 CHRNA1 SCN3A AMACR ATXN10 NAB2 NDUFB8 SLC1A4 RECQL4 NGLY1 PEX16 RAD51C MITF SNAI2 SALL4 SETBP1 ATRX REEP1 SLCO2A1 PHOX2B PDGFRA SDHD LAMA3 ZIC3 B3GLCT RAI1 SALL1 HCFC1 CDKN1B AXIN2 COX7B NEUROD2 NEUROG3 DSP VAC14 NHP2 SDHC CBLIF ND1 GALC MSH2 ALDH18A1 KCNK9 PLA2G4A ARFGEF2 TRNE ND1 UBE3B MKKS EDN3 GP9 F5 IL21 CDH1 TNFRSF13C HLA-DRB1 FOXE1 TBCE FLNA ADAR GJB2 MAP3K7 PHOX2B POLR3B TGFBR2 AFG3L2 MED17 MECP2 GDNF FXN SMPD1 FANCB PKD1 FANCD2 LARGE1 ZIC3 BIN1 SLC39A4 POLG PMP22 ABCB4 DVL3 PLCG2 DMPK POLG2 GBA2 TWIST2 CHEK2 DGUOK BAZ1B EXTL3 CYP7B1 TRNS2 POLE KRT8 FGFR2 POT1 EDN3 SIN3A LRP5 SYNJ1 FREM1 PIGO POMT2 MPL CDKN1A ACTB CFTR CFC1 UBTF NONO CACNA1G ITGB3 GRIN2D MYH7 EFL1 CAVIN1 KLF6 DLG1 PIGA TYROBP TREM2 JAG1 KIT SOX10 FAH CEP41 NONO CDK8 SAR1B STAT1 SCN4A TARDBP ATAD1 PAX3 FGFR3 SLC10A2 PTEN MEN1 TPM3 IL12B IRX5 NPHS1 NTHL1 SLC30A10 NDUFA6 SEC23A AIRE LMOD3 SF3B4 CDCA7 NECTIN1 L1CAM PRPS1 PIGV NDUFS3 FMR1 FH KLHL40 POLE SMC1A ALG13 RFX5 KAT6B AKT1 AAAS PMS1 GBA PUF60 BTNL2 SPART CDKN2A PGM3 NOS1 TBC1D24 PAX3 CTRC FLII FRMPD4 MAP3K7 MC1R MYOD1 IL10RA BBS1 AXIN2 NDUFA9 EP300 GLI3 CCN2 ECE1 EOGT CHAT EDNRB SERPINH1 HMBS CTCF OPTN FOXF1 GP1BB F8 CXCR4 TRNK MASP2 IRGM GATA6 GABRD RET TBCD AFG3L2 COG4 ATXN7 CSPP1 ATRX MUSK RET MPI MEN1 GABRA5 ATXN1 TNFSF12 C12ORF65 SPINK5 CCR6 IL6 TXN2 PDGFRL SNRPB ALS2 APC HYLS1 MCOLN1 PRKCD KCND3 RPS19 LAGE3 TRAPPC11 SUFU PLAA IRF6 ZNF81 LIPA SETX DOCK8 CCDC47 DNAJC13 STS GPHN FANCL FGF20 ATXN8OS DDX59 FOXG1 KLF11 COG7 IL12A-AS1 CNKSR2 SLC6A19 FOXH1 STAG1 RELA MLX SLC1A2 FGFR2 SYT14 LCT TJP2 PORCN CD81 PNP PRPH WRAP53 SMC1A RAB39B MYRF DLC1 CTNNB1 WNT2B MAPT CLCA4 CLCN1 ITGB3 SERPING1 PCNA CDK4 FKTN ITGA6 AKT1 LRBA BAAT VAPB PRKCSH DDX59 KLRC4 PIEZO2 TGM6 PEX6 DDIT3 ACVRL1 WDR26 EP300 PALLD HLA-B DCHS1 RET CTLA4 SHANK3 B3GALT6 SCO2 NDUFS2 CACNA1G POLG HSPA9 HSD3B7 TP53 FLI1 GYS2 MAN2B1 GPC4 RAD21 PMS2 ASCC1 HLA-DQA1 GAS1 FASLG COX3 FANCB DNAJB6 SMAD4 FTL KIAA0319L COQ4 ATM PIGN ARVCF MID2 KIAA0586 OPLAH INPP5E JAK2 TGIF1 ATXN1 MAPT IQSEC2 SKI SLC9A3 LAMB3 SDHC RBPJ AAAS MKKS GALC KY CISD2 B3GLCT EXT2 F5 TBP ZAP70 UBE2T AHI1 QDPR F13A1 ATP8B1 COMP SMC1A CHCHD10 PPARG GDNF STAG1 CDKN2C HLA-DQB1 CTNND1 TBC1D23 DLEC1 EFEMP2 PORCN FLCN RBM10 SPIB SLC52A2 SDHB RFC2 CDKN2A NLRC4 GABRG2 POLD1 DCC SRP54 SNAP25 TSC1 MYORG CCNQ NCF2 TNFRSF13B RNASEH1 SPINT2 CASP10 FGFR1 TERC PMPCA SZT2 MRE11 DDHD2 MYCN CHRNE JMJD1C VANGL1 AARS1 ARPC1B CEP120 JUP SPG7 OSGEP TRIP13 MSX1 SIX1 YWHAG FLNA NEK9 JAK3 NAA10 CTNNB1 IDS POLR1C SBDS ND5 ECM1 NFKBIA SLC19A3 BUB1B TIMM8A BRCA2 TCIRG1 CDH11 ELP1 MTMR14 ACTA1 ASPA MFF ATP6 RMRP TCTN3 SETD5 TK2 TRNW SOX2 PTCH2 TBX1 CCBE1 CDH1 HNF4A SLC52A3 HPCA JAK2 ASCC1 TNXB DHDDS CLCN4 GMPPA GNAS NGLY1 SEC24C DYNC2H1 ALDH18A1 MAGEL2 MECP2 MUTYH HCN1 SYT2 LAMB2 COL7A1 MSR1 TRMT10C RB1 SLC25A4 SYNGAP1 ISL1 GPC3 PGAP2 MEIS2 NUP88 RSPO2 ACD FANCE CYBA SHANK3 NPHP3 NEFH VAMP1 TMEM237 MET SCN4A SLC25A13 CHST14 SMO RFWD3 PDGFRA IGF2R POLR3A TGFB2 UPF3B SMG9 SURF1 ATP6V1A TTC7A CDON NIPBL IDH2 HNF4A CHD4 KIFBP MATR3 HFE GNS BRIP1 NPHP1 PEX5 ACVRL1 RRM2B FLCN GDF3 ABCB11 ATXN3 ADNP HNF1B EXOC6B LONP1 PEX26 TRIP13 SEC23B HTT SALL4 BRCA2 ITGA2B CHRND JAK3 FIG4 SMC3 GDNF NALCN ACOX1 LINGO1 RFXAP RHBDF2 TTC37 FARSB NPC2 RERE SQSTM1 NRXN1 ACTA1 TMEM67 TAF1 LAMA3 KRAS MLXIPL KCNJ11 ALS2 RNASEH1 FREM2 SALL1 ATP6 CYP27A1 PEX12 FREM1 IKZF1 UBAC2 PAK1 POLG ABCC2 PRKRA SSR4 SLC2A10 MAP2K1 CHN1 DNMT3B CEP120 GJB6 AK2 CHAT FGB SERPING1 TP63 NDUFB11 HLA-DPA1 LRRC8A SHPK ABCC8 AP3B2 TLR4 SLC25A13 TCF4 MYOT PANK2 SHROOM4 STXBP1 DMP1 NUS1 PTEN RAPSN LBR TANGO2 ITGB4 PANK2 WNT3 MLH1 MATR3 PKHD1 SNCA EDNRB CRLF1 GRIN2D GATA1 BMPR1A PANK2 WNT7A GTF2I MID1 KLHL41 MVK GDF2 KIF23 FLNA PTEN MCC NUP214 STXBP1 EPCAM KBTBD13 ATP13A2 LAMB3 IL10 FLNA SHH NPM1 SLC37A4 DDOST SH2B1 IARS2 INHBA SLCO1B1 DNAJC21 SKIV2L NF1 SOX10 TBK1 VPS13A ARV1 ASAH1 AGTR2 HLA-B WT1 SLC6A3 GNA11 COL5A1 MPZ BARD1 PTPN22 CYBA TRNW COL7A1 EDN3 AFF4 ARX ATXN8 PTPN3 TERC ABCD4 ORC1 HPS1 WASHC5 TP53 NEXMIF CYP27A1 ARNT2 HNRNPU BUB1B NCF2 FIG4 DLG3 FANCC ITGB3 GABRB2 DLL4 GUCY1A1 RAD54B TBL2 OTX2 SDHB NOD2 TMPRSS6 RBM8A CDKN1B IGF2 BMP4 CEL RFX6 SETX TCF3 ND2 CYBB GP9 ACTG2 FBN1 TNXB DAB1 SUFU BTK ELN CD55 HYMAI FLVCR1 PHOX2B STAC3 USB1 FLNB HMGA2 SMAD4 PLA2G6 PGAP3 RFX5 AMACR KLHL41 SMAD7 MKS1 MCFD2 POLA1 F13B SLC30A2 COL3A1 CD96 GLUD2
Protein Mutations 2
C10D V30M
SNP 1
rs738409
HP:0003003: Colon cancer
Genes 60
SH3KBP1 FOXE1 AAGAB FLCN MLH1 COL14A1 KRAS CEP57 MLH1 MUTYH BRCA2 MINPP1 BMPR1A GREM1 PALB2 APC BMPR1A PMS2 TGFBR2 KRAS EPCAM SMAD4 MSH2 PRKAR1A MSH6 MLH1 BUB3 APC NTHL1 BUB1 APC AXIN2 TP53 HABP2 APC BMPR1A MLH3 MSH2 DMPK MSH2 BRCA1 APC PMS1 TP53 MSH2 MSH3 APC MSH6 PMS1 SMAD4 TRIP13 PALLD APC CDKN2A SMAD7 RPS19 PIK3CA FAN1 BUB1B MLH1
Protein Mutations 9
A1298C C10D C677T I1370K P13K R451C S492R V600E V600K
SNP 2
rs18011131 rs1801133
HP:0100743: Neoplasm of the rectum
Genes 46
POLD1 AKT1 RNF43 PIK3CA SEMA4A SDHB KIT KRAS SDHA SDHC KIT MUTYH POLE KLLN BMPR1A POLE POLD1 KEAP1 GREM1 DICER1 SDHC MLH3 MSH2 STK11 PDGFRA PMS2 MSH3 TGFBR2 BMPR1A SMAD4 EPCAM SDHB ENG MSH6 PMS1 SEC23B PIK3CA NTHL1 RPS20 FAN1 USF3 PTEN BMPR1A SDHD MLH1 AXIN2
Protein Mutations 5
C10D R451C S492R S9304A V600E
SNP 0
HP:0002242: Abnormal intestine morphology
Genes 901
EPCAM KMT2D CTBP1 SLC6A8 PRSS1 EDN3 CLCN4 INSR KRAS BLNK KCNAB2 BACH2 ARID1B STK11 STAT3 SPINK1 TCF4 ABCB1 EPCAM POLG MEFV CASP10 CTLA4 BRIP1 ATRX GPR35 MYLK TMEM138 TYMP TTC37 SALL4 SMO CHD7 ARHGEF6 HCCS PEX1 GLA CCR1 ND4 CCR6 TTC7A MLH3 PTCH1 PTF1A MSH2 MSH3 ATP7A STX3 B9D1 PIK3CA TCF4 ARX AP1B1 RUNX1 TRNK SETBP1 TFAP2A CEP57 PTCH1 SEMA3E CHST14 INPP5E MUTYH BCOR KIT TCTN2 SLX4 PALB2 PEX10 MITF BCOR CD3G IL10RB RAD21 F12 C4A BUB3 DHODH MNX1 LIPA GREB1L RPS6KA3 ARL3 CTNNB1 FCGR2A FANCA KLHL7 MST1 PEX12 DSE NCF4 SLC2A2 TCTN1 FOXF1 EDNRB F5 TEK AP1S1 SI XRCC2 TTC7A ASCL1 DICER1 MDM2 FGF8 MTTP OCRL ARL13B ERCC2 SRP54 TINF2 HSD3B7 LTBP4 ACTA2 CEP104 GTF2IRD1 UFD1 LETM1 FANCB TDGF1 FAS KIAA0586 CTC1 GPIHBP1 RFXANK CEP57 LPIN2 FANCM IRF5 PTPRJ GPC1 KITLG POLG WIPF1 GPC4 XRCC4 EP300 DIS3L2 TGFB1 VANGL1 ARMC9 NCF1 CLIP2 COG6 COMT INAVA HLA-DRB1 ACTG2 WAS DOK7 ZFP57 IL23R LBR ERAP1 TRMT5 SMAD4 APC DNMT3B ENPP1 DMPK HIRA BRCA1 CEP41 IQSEC2 MSH6 CPLX1 MSH6 WFS1 PMS1 CREBBP APC PLG SEC23B STK11 TJP2 HBB ZNF41 TEK IGLL1 CHRM3 PCSK1 STX1A ND6 AKT1 PLA2G2A RNF43 TERT HLA-B RMRP MKS1 BRCA2 IL2RB TRNL1 BMPR1A MAD2L2 ZMPSTE24 GREM1 MED12 ACOX2 MEFV SYP FOXP3 RTEL1 APC IL12RB1 SDHB PACS1 PLAGL1 NODAL MSH6 SEMA3C PEX13 SLC9A7 NEK1 SOX10 MED12 RPS20 FGFR2 KMT2A AGA PTEN RFWD3 PIGN ACTG2 PIBF1 ABL1 NCF1 IL2RA MYC SLC7A7 CAVIN1 CDC45 TCF4 APC DLL1 ALG8 CTC1 SRC RET TRNL1 MED12 HDAC8 PALB2 FGFR1 SDHC SDHD CHEK2 PIK3CA DHCR7 KIT MNX1 RTTN AMACR KEAP1 APC RECQL4 PEX16 PMS2 POLG MITF SNAI2 SALL4 SDHB TRNF EPHX1 CCDC28B SLCO2A1 PHOX2B PDGFRA APC AURKA AMER1 SALL1 HCFC1 PRDM16 AXIN2 ADAMTS3 TP53 NEUROG3 HYOU1 ITGB4 SDHC CBLIF ND1 MSH2 MBTPS2 RREB1 PLA2G4A SDHC TRNE UBE3B NPHP3 CFTR SLC5A1 AKR1D1 PHOX2B MKKS EDN3 FAT4 RET IL21 PEX19 HLA-DRB1 FOXE1 BDNF LMOD1 TBCE SOX10 FBLN5 GJB2 ANTXR2 HELLS PHOX2B TGFBR2 KCNJ11 KRAS RECQL4 GDNF DGAT1 FAS PKD1 FANCD2 CNKSR2 MBTPS2 MMP21 DISP1 PDGFRL SOX10 LRP2 SLC39A4 AXIN2 ABCB4 PLCG2 SEMA4A TWNK NRAS BAZ1B EDN3 CYP7B1 TRNS2 ASCL1 POLE TLR2 PIK3CA CENPF CCBE1 EDN3 SIN3A ASXL1 MKS1 FREM1 PIGO UBR1 SMAD4 CFTR GP1BB CFC1 TGFB1 PIK3CA EFL1 SBDS RAD51 PTCHD1 ACSL4 KIT SLC6A8 SOX10 PEX11B FAH LIG4 CEP41 CDK8 SAR1B RNF43 STAT1 ALG3 BMPR1A FGFR2 TET2 PAX3 FGFR3 SLC10A2 PTEN APC XIAP RAC2 ERGIC1 NTHL1 RELA AIRE STAT4 SF3B4 CDCA7 L1CAM PIGV PIGO TCOF1 POLE ALG13 RFX5 AKT1 ADAMTS3 APC PMS1 PIGL RAD51C PAK3 CDKN2A ENG GUCY2C L1CAM PGM3 TMEM67 TBX1 IL12A PAX3 CTRC MLH1 PTPN12 MLH3 SETD5 FRMPD4 MAP3K7 CCDC22 COL14A1 MYOD1 IL10RA BBS1 AXIN2 EP300 ECE1 PARN EDNRB SMAD4 HMBS FOXF1 PRKAR1A PIGW DMD CXCR4 MASP2 IRGM GATA6 GABRD RET NRTN ITGA8 MUSK RET MPI MSH2 AHI1 C12ORF65 KIF7 SPINK5 IL6 NDUFB11 C12ORF65 TNFSF15 HYLS1 PRKCD FLNA RPS19 CCN2 FAT4 KDM6A RPS6KA3 SUFU EFL1 ZNF81 LIPA DOCK8 PIGY CCDC47 TMEM231 LIMK1 MINPP1 FANCL FGF20 KIFBP CD79A DDX59 LIG4 ARL6 ELN IL12A-AS1 KIT SLC6A19 FOXH1 LCT PORCN PRSS2 WRAP53 RAB39B MYRF DLC1 CTNNB1 FGFRL1 WNT2B CLCA4 GDNF HABP2 SALL4 SAA1 SERPING1 BMPR1A ITGA6 AKT1 LRBA BAAT DDX59 KLRC4 PLG PEX6 HMGA2 NCF4 POLG EP300 PALLD TRNQ CDKN2A POLR1D RET CTLA4 IL1RAPL1 B3GALT6 CYBC1 MTOR SRCAP HSD3B7 MYD88 B2M TP53 LRP2 FLI1 SIX3 RAD21 PMS2 EDN3 GAS1 FASLG COX3 SDHD SMAD4 ARVCF MID2 C1R RERE OPLAH INPP5E TGIF1 SPINK5 TGFB1 SKI SLC9A3 SDHC SLC18A3 MKKS UBR1 CISD2 B3GLCT TSPAN7 TNFAIP3 SEMA3D LEMD3 HLA-DPB1 ZAP70 RFXAP UBE2T AHI1 TMEM216 F13A1 TRNS1 ATP8B1 COMP SMC1A LMNA ARX TWNK GDNF TRNH PIGV TMEM237 EFEMP2 PEX14 PORCN FLCN RBM10 IL12A SPIB RFC2 ERCC4 NLRC4 POLD1 DCC CAV1 CCNQ NCF2 CC2D2A SRP54 DHCR24 ABCC8 SPINT2 NSD2 PMPCA MYCN SKIV2L JMJD1C ARPC1B PDGFRB CEP120 SIX1 BRCA2 ZBTB24 COX1 NSUN2 JAK3 NAA10 IDS POLR1C TYMP ZFPM2 SBDS RPGRIP1L RAD51C ND5 ITCH MYO5B BRCA1 BUB1B PRTN3 ZEB2 CYBB POLD1 SNAI2 ZNF711 ELN MUTYH PLVAP RET COL5A1 KIT GATA6 EDNRB RMRP GDI1 TCTN3 PIK3C2A STRA6 SETD5 PIEZO1 PTCH2 TBX1 CCBE1 MMEL1 BUB1 JAK2 COX2 WNT4 IRF5 GNAS SEC24C DYNC2H1 FAS CCND1 CPLANE1 ODC1 SAR1B PEX2 ISL1 STAT1 GPC3 PGAP2 NUP88 FANCE CYBA CBL SDHB NPHP3 TMEM237 SLC46A1 CHST14 NOP10 SMO MPI RFWD3 PDGFRA FTSJ1 UPF3B SRCAP RIPK1 COX7B IGHM CLMP MYH11 TTC7A CDON NIPBL PTEN SLC29A3 SERPING1 COG8 ADAM17 KIFBP FBLN5 PNLIP NPHP1 CSPP1 PEX5 ACVRL1 CXORF56 RRM2B DCTN4 FLCN ECE1 ABCB11 FRAS1 EDNRB FANCF EXOC6B LONP1 MYO1H PEX26 AKR1D1 TRIP13 CFTR SEC23B SALL4 JAK3 SMC3 GDNF ZIC2 MYO5B SNAI2 SH3KBP1 KAT6A RHBDF2 TTC37 FARSB FANCG NIPBL RERE ASXL1 KATNIP PTRH2 MLXIPL ALDH18A1 SALL1 PEX12 FANCI TNFRSF1A MLH1 PIGN UBAC2 EYA1 POLG ZAP70 TP63 BUB1 CARMIL2 DNMT3B RTEL1 EWSR1 CEP120 GJB6 AK2 ASXL1 SERPING1 TNPO3 TGFBR2 MECP2 HLA-DPA1 LRRC8A SHPK BAX TLR4 DMP1 FAN1 ZNF423 RAPSN BMPR1A LBR NOTCH2 MLH1 FOXP3 DACT1 MLH1 EDNRB KLLN GATA1 BMPR1A GTF2I MVK EDNRB GDF2 WAS FLNA PTEN MCC USP27X EPCAM DHCR7 FBN2 IL10 RASGRP1 FLNA SHH CIITA NPM1 SH2B1 INHBA TMEM237 BMPR1A POU2AF1 DNAJC21 COX4I2 SKIV2L SOX10 MLH3 VPS13A NOTCH3 AGTR2 DACT1 HLA-B WT1 TP53 PTPN22 RARB CEP290 CYBA TRNW SRP54 GLI2 EDN3 CD79B TERC HPS1 WASHC5 AAGAB TP53 SRSF2 CYP27A1 KRAS HNRNPU BUB1B NCF2 RET DLG3 FANCC WHCR RAD54B TBL2 SDHB NOD2 MSH2 TMPRSS6 RBM8A CLMP AP1S1 NOTCH2 RFX6 FERMT1 ITGB2 TCF3 MCM6 CYBB PIK3R1 USF3 DNAJC21 MTTP SDHA ACTG2 NHP2 PEX3 SUFU HPGD EIF2AK3 BTK ELN ENG CD55 HYMAI PHOX2B GATA6 USB1 USP9X FLNB MBTPS2 PHOX2B SMAD4 PGAP3 APC AMACR SMAD7 DKC1 MKS1 POLA1 F13B SLC30A2 FGFR1 COL3A1
Protein Mutations 1
C10D
SNP 8
rs1217414 rs12760457 rs1310182 rs2097432 rs2476601 rs2488457 rs33996649 rs3789604
HP:0100834: Neoplasm of the large intestine
Genes 133
CHEK2 EPCAM DOCK8 FLCN MLH1 PIK3CA SDHB KIT CEP57 MLH1 KIT PTPRJ MINPP1 KLLN POLD1 KEAP1 DCC APC BMPR1A STK11 PDGFRA PMS2 BMPR1A EPCAM MCC FGFR3 APC NTHL1 APC GPR35 AURKA PTEN AXIN2 DLC1 TP53 BMPR1A HABP2 POLE MLH3 APC BMPR1A SDHC AKT1 MLH3 DMPK MSH2 BRCA1 APC PMS1 TP53 MSH2 MSH3 FLCN MSH6 CDKN2A PIK3CA ENG MSH6 PMS1 TRIP13 PALLD TCF4 APC CDKN2A SEC23B BUB1B MLH1 PTPN12 MLH3 SH3KBP1 FOXE1 AAGAB POLD1 AKT1 TP53 PLA2G2A RNF43 COL14A1 KRAS MUTYH BRCA2 TP53 MUTYH BUB1B BMPR1A AXIN2 GREM1 PALB2 EP300 PMS2 TGFBR2 RAD54B KRAS SMAD4 SDHB SMAD4 MSH2 PRKAR1A MSH6 MLH1 BUB3 CTNNB1 BUB1 RPS20 BUB1 PDGFRL MST1 USF3 PTEN AXIN2 SEMA4A SDHA NRAS SDHC POLE TLR2 DICER1 MSH2 MDM2 TGFBR2 CCND1 APC ODC1 SMAD4 BAX SRC APC SMAD7 RPS19 PIK3CA FAN1 BMPR1A SDHD
Protein Mutations 16
C10D C377T G12A G12C G12D G12S G12V G13D I10A L858R P13K R451C S492R T1482I V600E V600K
SNP 1
rs603965
HP:0007378: Neoplasm of the gastrointestinal tract
Genes 353
CHEK2 EPCAM DOCK8 PIK3CA SDHB KIT MINPP1 SDHD MET PDX1 PSAP NAB2 KEAP1 HNF1A APC SLC25A13 STK11 PDGFRA SPRTN PMS2 RAD51C KLF11 EPCAM GPC3 SETBP1 IGF2R SDHB TREX1 CASP10 ATRX RELA PDGFRA TJP2 APC GPR35 AURKA SDHD CD81 PTEN CDKN1B AXIN2 TTC37 DLC1 CTNNB1 SDHC TP53 HABP2 HFE BRIP1 BMPR1A SDHC AKT1 ACVRL1 GPC3 MLH3 PTCH1 CD19 FAH MSH2 MSH2 MSH3 FLCN ABCB11 PIEZO2 BLK SDHC PIK3CA AXIN1 TRIP13 WWOX TNFRSF13B PALLD CC2D2A TCF4 SEC23B CDKN2A EDN3 ERBB2 BRCA2 SERPINA1 NBN INS MEN1 SETBP1 CDH1 TNFRSF13C SH3KBP1 SLC37A4 FOXE1 MTOR RHBDF2 IL1RN MUTYH TP53 TMEM67 PALB2 MGMT GPC4 RAD51D WRN RAD21 PMS2 ASCC1 KCNJ11 TGFBR2 KRAS FASLG SDHD SMAD4 SMPD1 POU6F2 MLH1 DAXX BUB3 RPGRIP1L FAS CTNNB1 BUB1 H19-ICR PDGFRL MST1 KRAS AXIN2 SEMA4A NRAS SDHC UROD CHEK2 ARSA POLE TLR2 TRIM28 PIK3CA IL1B TERF2IP DICER1 POT1 HFE F5 RHBDF2 MDM2 WT1 APC WT1 TNPO3 TGFBR2 SEMA3D IGF2 SMAD4 CDKN1A ABCC8 TRIM28 BAX COMP PIK3CA GDNF KLF6 CDKN2C FAN1 PTEN BMPR1A PALB2 DLEC1 FLCN JAG1 MLH1 SPIB ICOS CEP57 MLH1 BAP1 KIT SDHB CDKN2A PTPRJ CTHRC1 KLLN JAK2 POLD1 FAH DCC TERT REST RAD50 INPP5E BMPR1A NFKB1 HBB RNF43 STAT1 EDNRB BMPR1A GDF2 ATP7B ACD PTEN MCC HFE FGFR3 PTEN MEN1 SDHB APC CASP10 PIK3CA MS4A1 RASGRP1 CDK4 NTHL1 SLC37A4 MRE11 BCL10 FGFR2 SKIV2L BMPR1A G6PC DIS3L2 POU2AF1 FH STAT6 SMAD4 POLE NEUROD1 MLH3 APC AKT1 DMPK SLC25A13 BRCA1 APC TRIP13 PMS1 TP53 MSH6 TGFBR2 CDKN2A BARD1 ENG MSH6 CTNNB1 PMS1 APC LMNA SEC23B STK11 PTPN3 HBB MITF BUB1B BRCA2 IL12A RAD51 MLH1 PTPN12 MLH3 AAGAB POLD1 AKT1 TP53 PLA2G2A RNF43 APPL1 COL14A1 KRAS MC1R BRCA2 BMP2 TP53 MUTYH CHEK2 BUB1B PHKG2 BMPR1A RET AXIN2 GREM1 EP300 PAX4 TP53 AHCY ECE1 C11ORF95 KIT KCNQ1OT1 RAD54B APC IL12RB1 RNF6 SMAD4 SDHB HMBS SDHB HMBS MSH2 PRKAR1A HNF1A MSH6 SEMA3C CDKN1B IGF2 CEL PTCH2 HNF4A MMEL1 RPS20 BUB1 CDKN1C USF3 PTEN TNFSF12 BLM NRTN PHKA2 H19 PYGL IRF1 IRF5 CR2 CDKN2B SDHA GNAS MEN1 KCNQ1 NFKB2 MSH2 TNFSF12 FAS ENG CASP8 CCND1 H19-ICR APC MUTYH ODC1 GCK PDGFRL SMAD4 PRKCD PIK3CA TNFSF15 APC MSR1 PRKCD SRC BRCA1 APC SMAD7 RPS19 CDKN2B MSH3 SUFU SDHC SDHD
Protein Mutations 5
C10D G12D G12V G34A V600E
SNP 2
rs2231137 rs3114018
HP:0002664: Neoplasm
Genes 1515
EPCAM BAP1 CYLD WT1 CTBP1 GLI3 CTNNB1 ELMO2 ATRX TERT EDN3 MTAP TSC2 RAD51 BLNK KCNAB2 WDPCP SPINK1 ARID1B PTEN STK11 XPA PTH1R TCF4 EPCAM NF1 GPC3 ERCC3 MC1R CASP10 PDGFRA RPL5 CDH1 BRIP1 RUNX1 KRAS SFTPC GPR35 MYLK STS DYNC2LI1 RAG2 CBL FOXE1 STAT3 TTC37 ABL1 NSD1 ATM KCNH1 GPR101 IGH KRT17 SUFU TERT KRAS GPC3 CYP11B2 MLH3 PTCH1 FAH MSH2 EXT1 CCND1 MSH3 ATP7A SEC23A PHOX2B HAX1 MYD88 LMO1 PIK3CA PRLR AXIN1 TCF4 RUNX1 AKT1 ERBB2 REST DCLRE1C SERPINA1 ERCC3 TMC6 RASA1 MSH3 TRNL1 CALR HRAS INS RNF113A SETBP1 CDH1 SLC37A4 TFAP2A CDH1 PTCH1 KIT PTEN IL1RN MLH3 MUTYH PTEN KIT GBA BCL2 KCNH1 GINS1 ESCO2 TET2 SLX4 DICER1 PALB2 NEK1 ESCO2 COL7A1 PTCH2 WT1 WRN GCM2 BRD4 BRAF TREX1 THPO SUFU NRAS CDC73 POU6F2 GNAS DAXX BUB3 RSPO1 MNX1 ERCC2 RPS28 ANTXR2 CTNNB1 POT1 FANCA KDM6B RET MST1 NOTCH3 FGFR1 KRAS LYST CHIC2 TMC6 MET KRT10 UROD SLC25A11 ARSA EVC2 TEK XRCC2 CASP8 ASCL1 IL1B TERF2IP DICER1 MPL OFD1 RHBDF2 DICER1 MDM2 WT1 MMP1 CDKN2A FGF8 NR4A3 FGFR2 OCRL TP53 ERCC2 SUFU ERCC4 ALX4 TINF2 DCLRE1C SRY SRP72 NF2 GNAS LETM1 TP53 FANCB TAL1 TDGF1 BRCA1 LEMD3 NF2 BRAF NUP214 RAD21 COL18A1 SDHD ICOS CEP57 BAP1 FANCM PTPRJ FANCE SLC22A18 PIK3R1 JAK2 FLT4 SMO WIPF1 DLST NF2 RAD50 MEN1 CHEK2 GPC4 WDPCP CYP2A6 HBB GANAB XRCC4 TET2 ATP7B EP300 DIS3L2 HFE CARD14 OFD1 ALX3 VANGL1 BAP1 SDHB EXTL3 PIK3CA GATA2 ALX3 BCL10 KIT WAS FGFR2 RMRP TWIST1 BMPR1B DIS3L2 ERCC3 FOXP1 SMAD4 CALR APC PCGF2 USP8 DMPK NRAS DKC1 BRCA1 ADAR BCR RSPO1 SLC45A2 GJC2 TNFRSF4 AKT1 IFIH1 MSH6 DICER1 PAX6 TGFBR2 SRY KLHDC8B CPLX1 MSH6 AIP PMS1 CREBBP ERCC2 CTSA APC MMP1 SH2B3 PKD1 TRNF SEC23B DNAJC21 STK11 BCR HBB MITF IGLL1 ALX4 MDH2 AKT1 SCN4A SDHAF2 PRKN PLA2G2A RNF43 DNMT3A TERT NSD2 RMRP FANCG BRCA2 CAT TP53 BMPR1A MAD2L2 SIX6 DDB2 GREM1 KRT17 PAX4 RPS17 TRPV3 ERCC4 C11ORF95 APC IL12RB1 BRIP1 PPM1D SDHB NODAL HNF1A FLT4 MSH6 ERCC6 BTK SLC26A4 SEMA3C AR NEK1 TERC RPL35A RPS20 CDKN1C SF3B1 TERC PTEN RFWD3 BRCA2 KCNQ1OT1 RPL10 ACTG2 MAGT1 ALK BLM H19 LEMD3 RPL31 MLLT10 PYGL RPL15 IRF1 CR2 MITF PTEN MYC PTPN11 TUBB TCF4 KCNQ1 NFKB2 ALX1 HLA-DRB1 APC EWSR1 NBN CDKN2A ERCC4 GCK DLL1 SLC25A11 PDGFB L2HGDH PRKCD CTC1 PIK3CA SUFU RPL27 KIF1B SRC CIB1 RECQL4 CDKN2B MSH3 BRCA2 PALB2 PDE6D SDHC SDHD CCL2 CHEK2 PMVK XPC STK11 PIK3CA MVD DHCR7 KIT GPC6 KARS1 MNX1 VHL TUBB NAB2 KEAP1 TSC1 NQO2 APC SDHB VHL TCTN3 RECQL4 PMS2 RAD51C STAG3 SNAI2 MAP3K8 SETBP1 SDHB NPM1 RAD51C RARA ERBB2 ERCC5 ATRX CHEK2 KRAS BRCA1 TFAP2A SLCO2A1 PHOX2B PTEN COL2A1 PIGL PDGFRA APC CPLANE1 AURKA SDHD LAMA3 VHL RPS26 GFI1B CDKN1B PRDM16 AXIN2 FZD2 AP2S1 LZTR1 TP53 TP53 GNA14 CTNNB1 MSTO1 PIK3CA RPS29 CALR DHX37 MYF6 SDHC MALT1 ELANE SDHD SLC26A4 MAP3K1 GDNF MSH2 SDHC TGFBR1 RUNX1 CREB1 CDKN2A TSC2 KRAS TNFRSF10B LMNA WWOX PHOX2B EDN3 RPS10 RSPRY1 TRIM37 RET MEN1 BCL10 MSH2 TNFRSF13C FOXE1 FANCC H19-ICR BLM ERCC6 LIG4 BDNF LMOD1 NF2 TMEM107 CYLD GJB2 EXT1 CTSC PHOX2B RAD51D RASGRP1 RB1 TGFBR2 SRY MYH8 KRAS TINF2 RECQL4 H19 PRF1 GDNF MXI1 SMPD1 WT1 HRAS COL1A1 PDGFRB FAS FANCD2 NF1 DISP1 PDGFRL IKBKG BIN1 BRCA2 ADA POLE AXIN2 SEMA4A KRAS NRAS PALB2 CHEK2 ASCL1 POLE TLR2 PIK3CA MINPP1 SOS1 CYLD CTLA4 POT1 ASXL1 CDC73 APC SAMD9L WT1 TRAF7 GATA4 PIK3CA DYNC2LI1 ATP7A CBFB MST1R GCGR MPL COL4A5 SMAD4 CDKN1A SDHD TRIM28 POLH GPR101 PIK3CA FLCN GPR143 RB1 SBDS SLC12A3 KLF6 ICOS GNB1 PIGA TYROBP GFI1 RAD51 SLC26A2 MC1R TREM2 SFTPA2 JAG1 BAP1 EGFR IGH KIT PLCB4 NLRP1 HNF1B ZFHX3 EPHB2 KLLN OCA2 WT1 FAH FH TERT SRD5A3 LIG4 NFKB1 RNF43 KIT STAT1 IFNG BMPR1A ERCC3 TBX18 TET2 MAP2K1 EXT2 HRAS RTEL1 FGFR3 PTEN CTNNB1 MAP2K2 MEN1 APC CLCNKB AKT1 ESCO2 CDC73 MS4A1 BRAF CRKL NUTM1 CDK4 NTHL1 ETV6 TET2 SQSTM1 FAM20C PIGL SEC23A ATM PALB2 TYR SRSF2 EXT2 GJB2 DNMT3A HRAS TCOF1 CHEK2 CDH1 FH DKC1 POLE PIK3CA PTCH2 AKT1 PAX3 FH ADAMTS3 APC PMS1 RAD51C PLCD1 PUF60 DIS3L2 CDH23 SCN9A FOXC2 SMARCB1 CDKN2A VANGL2 ENG SH2D1A SDHB SOX9 BRAF SDHA PGM3 ERCC2 GJB2 TBC1D24 CHD7 MPL DHH PTCH1 CALR IL12A TNFRSF13B CD28 MLH1 PTPN12 OFD1 MLH3 REST CCDC22 APPL1 COL14A1 IGH PSENEN IL2RG MC1R SMARCA4 CYLD KIF11 PHKG2 JAK2 COL2A1 AXIN2 FLNA WNT5A TYR EP300 GLI3 EXT2 MGAT2 KCNE3 ECE1 PARN IDH2 TSC1 ARL6IP6 FGFR3 SMAD4 HMBS SLC6A17 PRKAR1A BAP1 KDSR DHCR24 CXCR4 DDX41 GABRD RET NR0B1 DMRT3 CCND1 GDF5 POU6F2 CTLA4 TBXT FANCA NRTN PHKA2 KIT ITK RNASEH2A PERP CDC73 OFD1 CYP2D6 RET MEN1 CD27 PARN FUZ RPS19 MSH2 SMARCE1 TNFSF12 ZSWIM6 TERT RHOH NF1 BUB1B SLX4 LIG4 PDGFRL TNFSF15 OPCML APC PRKCD SETD2 RPS19 BRCA1 FAT4 ANTXR1 WNT10A SUFU TP63 EFL1 IL7 MN1 DOCK8 CDC73 SSX1 TMEM231 MPLKIP VHL MINPP1 BIRC3 PDX1 STS PSAP HNF1A JAK2 FANCL POT1 GNAS TERT CD79A KLF11 WRN MAPRE2 LIG4 CYSLTR2 DNM2 SH3GL1 KIT FOXH1 RELA KRAS PRKAR1A ERBB3 FGFR2 H19 TJP2 CD81 PNP MSH6 WT1 THPO ATP6V1B2 GNAQ BRCA1 WRAP53 ERCC3 CHRNG KRT14 TSC1 DLC1 CTNNB1 FGFRL1 SDHC GDNF HABP2 NRAS ATR TRNK BMPR1A TERT BRAF AKT1 XPC FGFR3 NUP214 TRIP13 SMARCD2 ZSWIM6 PIEZO2 EVC IL6 HRAS GPC4 TNFRSF13B PALLD CDKN2A POLR1D TP53 FOXO1 BRCA2 FIBP CDH23 RB1CC1 B3GALT6 FLT3 GJA1 SH2B3 MRAP MTOR AR FOXI1 TP53 GNAQ KRT6B MYD88 KRT16 TP53 NF1 MYSM1 MGMT KIT NF1 GPC4 GCM2 SIX3 PIK3CA RAD21 HRAS PMS2 ASCC1 BRCA2 GAS1 FASLG SDHD NRAS C2CD3 KDR SDHA SMAD4 SOX2 NBEAL2 SRGAP1 AGGF1 ATM AKT1 RPGRIP1L NOD2 BAX BRCA2 H19-ICR TGIF1 MAPK1 ESR1 EXT1 RPL11 KRAS BCL10 SKI LAMB3 XIAP SDHC HABP2 TRNS1 CCM2 FIBP PIK3CA TRIM28 HRAS SCN10A NF1 WT1 CPLANE1 HFE F5 C2CD3 GNPTAB TBX2 KLF6 GATA2 VEGFC RNASEH2B CBL SEMA3D ARMC5 CXCR4 JAK2 IGF2 FGFR2 NRAS UBE2T ARHGAP26 SCN11A MEN1 LMX1B F13A1 BCR COMP EDN1 SDHC ACTB GDNF CDKN2C ASPSCR1 NAGS PDGFRB PALB2 DLEC1 BCL10 STAR GNA11 PORCN RNR1 FLCN SPIB WT1 RET SDHB SLC22A18 ERCC4 CDKN2A CTHRC1 DLST OGG1 POLD1 DCC IL2RG REST SRP54 RAF1 TSC1 SRP54 IDH1 ACD KIT ACAN NSD2 TOP2A CASP10 DVL1 PTPN11 CASP10 STIM1 KRT9 AR CIB1 GNAS AR VAMP7 MRE11 GFI1 RPS14 BCL10 CACNA1S TP53 VANGL1 SKIV2L PTCH2 G6PC LRP5 PDGFRB BARD1 RPS27 RPS7 GNAS ENPP1 STAT6 ACVR1 MTM1 NEUROD1 TNFRSF13C PKD2 RUNX1 STK11 FGF3 TRIP13 SIX1 BRCA2 LAMC2 NELFA DVL3 GJB4 NSUN2 CDKN1B CTNNB1 POLR1C GJB3 SMARCB1 SBDS LMNA KRAS TRNH ECM1 STK4 ANTXR2 SOS1 BAP1 MSX2 DICER1 SDHB ACD WRAP53 BRCA1 ATP7A BUB1B RYR1 RET BRCA2 TP53 DPM1 BRCA2 BCR POLD1 TCIRG1 PTPN11 HOXD13 CR2 TARS1 JAK2 BMP2 MUTYH FLT3 TRNS2 MTMR14 NR5A1 ABCA5 RET AHCY TSC2 KIT KCNQ1OT1 RNF6 RAD54L HNF1A HMMR RNF139 WWOX TCTN3 BRAF FCN3 RNASEH2C AIP PRKN SF3B1 MSH6 NSD1 PTCH2 CCBE1 RECQL4 PMS2 ERCC2 HNF4A MMEL1 BUB1 TET2 TRPS1 ABCC6 RET IRF5 CDKN2B PDGFB USP9X TAL2 INTU GNAS HDAC4 MFN2 DYNC2H1 PIK3CA PLAG1 ATM MAX FAS PIK3CA CYP11B1 CCND1 H19-ICR PTCH1 MUTYH ABL1 ODC1 FGFR2 COL7A1 MSR1 BRCA1 RB1 TNFRSF1B COL7A1 FLT4 GPC3 TGFBR2 ATRX RAG1 PRCC BRAF TNFRSF1B FANCE RAD54L CBL SDHB TERT SDHD RPS24 FASLG MET KRT17 GATA1 ERBB2 FGFR1 KAT6B ABCA5 SDHAF2 SLC25A13 NOP10 GATA2 RFWD3 PDGFRA SPRTN MLH1 NKX2-1 IGF2R CD19 MAP3K1 TREX1 TRNP ZFPM2 CTNNB1 TRNQ WWOX IGHM MYH11 TMEM127 CDON NF2 SAMD9 PTEN RNASEL IDH2 HNF4A GTF2H5 GLI3 HRAS LPP DDB2 KIT PIK3CA PDCD10 HSPG2 HFE RPL26 BRIP1 ASXL1 SDHD CEBPA ACVRL1 NRAS CD19 GNAQ TET2 TCTN3 SMARCB1 FLCN ABCB11 BLK RAD54B SDHC FH AKT1 ANTXR1 FANCF HNF1B EXOC6B SAMHD1 SHOX MYO1H COL11A2 KCNJ10 TRIP13 CC2D2A LZTS1 SEC23B GPR101 DOCK8 BRCA2 NBN SLC26A2 SPRED1 VHL KRT1 LIN28B GTF2E2 NRAS ZIC2 SNAI2 SH3KBP1 SHOX BCL6 NTHL1 RHBDF2 CD28 MCM4 CCND1 FANCG SMARCAD1 GATA2 RERE YY1 ASXL1 IL7R TMEM67 C1S TAF1 FGFR3 NBN KRAS KIF1B AIP KCNJ11 LETM1 FANCI MLH1 MBTPS2 NRAS NEK9 GNAI3 APC2 EYA1 ZAP70 EXT2 BUB1 SSX2 LIG4 CARMIL2 SLC17A9 TMC8 PCNA EPAS1 TFE3 BRCA2 DHH MAP2K1 CASP8 CDK4 PDGFB RTEL1 EWSR1 PTEN VHL GJB6 NDP RNF6 TNPO3 TGFBR2 TXNRD2 PNP TAF15 TRNK SMO NOTCH1 LRRC8A RASA1 TSC2 ABCC8 PRKAR1A BAX IDH1 SLC22A18 ADA FAN1 TG PTEN BMPR1A MSTO1 ERCC5 IRF1 MLH1 NRAS MLH1 PICALM FANCD2 SF3B1 BICC1 RPS15A TERT KLLN ELANE FAM149B1 GATA1 SASH1 INPP5E TP53 WT1 BMPR1A PTPN11 PTPN11 MYCN XPA EDNRB TP53 FLI1 GDF2 PHB BMPER FGFR3 PTEN MCC EXT1 MC2R KCNN3 DNASE1L3 DHCR7 RASGRP1 SHH NPM1 SLC26A2 SLC37A4 IGF2 RPL18 SH2B3 PTCH1 BRAF PAX7 INHBA BMPR1A KIF7 XRCC3 IGF2 POU2AF1 DNAJC21 CYP26C1 RB1 MPL REST KIAA0753 DNMT3A ERCC6 MUC5B MLH3 ASXL1 MPL NOTCH3 KCNJ10 SMARCE1 TSR2 RPL10 KRT1 SLC25A13 WT1 NNT TP53 GNA11 GLI1 BARD1 FLCN COL7A1 SRP54 GLI2 EDN3 PTPN3 WT1 TMEM127 CD79B GATA2 TERC FN1 EIF2AK4 RAD51 WASHC5 SAMD9L AIP TP53 AAGAB RB1 TP53 KRT5 ADA2 HSPA9 PIK3CA SRSF2 PHF21A IDH1 KRAS KRAS CHEK2 BUB1B RET FANCC TP53 WHCR RAD54B NUMA1 SDHB HMBS TMEM216 SMAD4 MAFA MSH2 RPL35 CDKN1B IGF2 PPP2R1B CD70 CEL MAD1L1 MAX ALK GPC3 FERMT1 KIF1B TCF3 POLH PIK3R1 USF3 FDPS MYC DNAJC21 TNFSF12 HACE1 CDH1 SDHA ND5 NHP2 PIK3CA RPS14 NBN WNT10A ING1 CASR SUFU FGFR3 HPGD BTK ENG DCC CASP8 PHOX2B STAC3 USB1 KRIT1 PHOX2B TET2 SMAD4 JAK2 BCHE APC MVK SMAD7 SMO DKC1 SMARCB1 VHL F13B TINF2 USP8 FGFR1 FOXI1 TET2 CD96 TET2 JAK2 KRAS
Protein Mutations 75
C10D C377T C677T C797S D816V D835V D842V E10A E17K E542K E545K F1174L F31I G12C G12D G12V G13D G156A G20210A G719A G719C H1047R H1112L H1112Y H1124D K652E L1213V L265P L858R L861Q M1149T M1268T P1009S P13K P1446A P286R P4503A Q12H Q21D R132C R132G R132H R132L R132S R132V R140L R140Q R140W R172G R172K R172M R172S R172W R988C T1010I T1191I T315I T790M V1110L V1206L V1238I V411L V57I V600D V600E V600K V600M V600R V617F V941L Y1248C Y1248D Y1248H Y1253D Y842C
SNP 8
rs1045642 rs11615 rs13181 rs1695 rs25487 rs34489327 rs34743033 rs619824