HP:0011024: Abnormality of the gastrointestinal tract

Genes 2335

SH2B1 RPS7 TRNK TIMM8A B3GLCT DNAAF1 TOP3A MITF TREX1 CACNA1G TRAPPC11 KAT6B CHAMP1 EFTUD2 CNKSR2 FREM1 NTRK1 ARVCF SLC2A10 RPS15A ND1 NR4A2 RELA EDN3 SLC5A7 FCN3 RREB1 HPGD NALCN KIF3B ATXN10 NPHP3 MAFB DDHD2 PRSS1 ATXN8OS PEX11B CFC1 DNAH11 PAX4 GJB6 AARS1 ZIC3 POLG STK11 CDC45 BUB1B DMD SNAI2 GBA NDUFA6 FOXH1 MTTP MCC LAMB3 ANKRD11 PDGFRL NEB MRPS25 CEP290 TTC7A BARD1 CCR6 BRSK2 BRIP1 FGA HSD3B7 IL1RN BRAF ADNP SEC24C CDK8 TYROBP EXT2 PIK3CA HCN1 NUP62 B3GALT6 TWNK GCH1 SLC37A4 TSC1 FANCG FOXF1 GMPPA WAC GNS GRIN2B ENPP1 ADD3 CUX1 MCEE SIN3A FLNB ITGA8 EFEMP2 CRLF1 WASHC5 KRAS ECE1 STAG1 MYOT XYLT1 SLC9A3 KMT2A SLC25A24 PRKCD SUFU TPM2 CCR6 HOXD13 AHI1 CFAP300 SDHD RELN IRF2BPL MYF6 RHBDF2 PHKG2 COL5A1 PEX19 MAP2K2 SMC3 ACD CR2 ACVRL1 F12 ACTL6B CDKN2B ERCC8 PPP2R5D SOX3 FANCL NDUFB11 CPLX1 KCNB1 EMC1 SHH ACADVL FAN1 TET2 RFX5 VPS33A SEMA3D MYRF HRAS PIK3CA NGLY1 GLI2 ODAD4 ATXN1 SPINT2 DLL4 F8 SMG9 C11ORF95 ATXN8 ECM1 SCO2 CAV1 SOX2 MKS1 VANGL1 PUF60 RAD51D ATXN3 CCBE1 ELP1 AGA TAF1 FANCF MMP21 TDGF1 GDNF PPP3CA TCIRG1 APPL1 ND4 RPS19 IGF2 FLI1 ZIC2 DLL4 MBTPS2 POLG DISP1 ERMARD SIX3 SOX10 L1CAM BTK TSPYL1 MSH6 NOTCH3 RSPH1 CCBE1 RET FOXC1 ZIC2 TIMM22 SMAD4 FREM1 IFNGR1 LAMA2 SMAD4 STAT1 GABRA2 ISL1 SACS HMBS CAMTA1 FGF8 TCOF1 SHH CNTNAP1 PAK1 GRM1 SYT14 MCFD2 SYNGAP1 SIK1 HFE CREBBP MET NODAL NOTCH2 ATXN1 SKI ERLIN2 ABCC6 PORCN CEP57 SLC9A6 RAD21 SCN4A SYT1 CLMP DLL1 RERE RFXAP FLNA TCTN3 PTPN22 SLC6A8 TTC7A FGF12 SQSTM1 INTU TRNS2 CDON EDNRB DEAF1 C1R ABCD4 PLA2G6 COG4 LAMC2 DNM2 SLC6A9 RPS19 TBC1D23 IL12A-AS1 ENG TYMP CDKN1B SLC13A5 FOXG1 TGFB1 CCN2 MAP3K7 HLA-DRB1 HYLS1 ARX NPM1 DGUOK UBE3A MC1R TSC2 PPP2R5D GLI2 HNF1A CTLA4 CNKSR2 WDR73 APC VAPB SAR1B GDNF SLC18A3 DSE USP9X DHODH RPGR DYNC2H1 NSUN2 FERMT1 EXOSC9 MSH2 DNAL1 NCF4 CRYAB GALC IFT80 GNB5 MKS1 DDOST WFS1 EWSR1 FLNA POU6F2 RNF43 MNX1 SIGMAR1 RPGRIP1L FBN2 GBA2 FBN1 SLC29A3 CNTNAP2 BAX MAPT NTNG1 SLC2A10 SPOP PGM3 GBA MBD5 TP53 COL7A1 SHANK3 PLEC TRNK PNP PTS ZEB2 EDN3 WWOX ATRX SYNJ1 NCF4 ODAD2 FMR1 HCCS GBA ENG DNAI1 MCM6 SYNGAP1 CCNQ MDM2 LAMC2 SLC9A6 TP63 DCLRE1C CEP104 FANCC AXIN2 SNCA PYGL CCN2 BLK MED12 AMACR PIGL TWNK PCSK1 APC ATP7B NCF1 IL2RB TP63 GLI2 NRTN SAA1 PYROXD1 PMS1 TBC1D24 FAH BRCA2 TTC37 LTBP4 ACOX2 MLX C2CD3 IDH1 FARS2 IGLL1 ODAD3 TK2 PERCC1 MAGEL2 SYP ATN1 NDUFA9 PDGFRB SOX10 EPCAM TRIP4 IQSEC2 ADAM17 APC GLMN TMEM216 CISD2 GDF2 BUB1B TP53 CYBB CLCN4 RAD54B STAC3 VWF NPHS1 COLQ EDN3 SLC6A8 AURKA CDH1 FOXH1 GFPT1 GPIHBP1 FLCN GRIN1 COX3 GLRB COG8 LRRK2 TMTC3 USF3 ACVRL1 MTTP NBN OTX2 PRKCG PLXND1 TTBK2 WAC ITGA6 STRA6 NDUFAF3 FANCB STAT3 KY GLI2 SLC25A13 SLC2A2 PMP22 UBTF RPL31 RPGRIP1L F7 DOCK8 RPL10 WDR26 HMBS EGFR BRCA2 TUBB6 PALB2 GAS1 CCDC22 SAMD9 DMPK PSAP PTCH1 KBTBD13 AXIN1 TREX1 AHI1 VCP KAT6B MEFV JAK2 DNAAF2 POLR3A GNA11 KDM3B PI4KA ACTG2 NFKB1 IRAK1 TRAK1 RYR1 ABCB4 PEX12 BDNF AP1S1 GP1BB MSL3 TERF2IP FUS HNRNPK NFKB2 FREM2 PIGY TGIF1 HELLS IDS POLE SERPINH1 NEK9 EYA1 HSPA9 RNF43 SELENON SETD2 PSTPIP1 SOX2 F10 SLC52A3 DZIP1L NEUROG3 PDGFRL SHROOM4 NUP107 POU2AF1 HIVEP2 GLRA1 TDGF1 POLG CDC73 ADA2 FRG1 TSR2 SIX3 SNCAIP LAGE3 TMEM67 CEP41 CHD7 POLR1C TCF4 ATRX RBM10 GDF6 ORC1 CC2D2A BMPR1A FGFR2 MYH3 FOXG1 PARN HSD3B7 RFWD3 OPLAH MED12L SDHD WFS1 GPC3 ASAH1 ALS2 NHP2 NOD2 FANCB ZMYND10 KRAS SDHB COL5A2 NODAL SPRTN SDHC ROR2 GP1BA SMAD4 KDM6A SEMA3C EDN3 F9 NONO IRX5 ATXN8OS MYLK NOS1 NXN DSP POLD1 UBR1 NODAL TCF4 ND6 IRGM ARHGAP31 MS4A1 NODAL MEN1 LRRC56 VPS35 DHCR7 ZNF711 F13B NECAP1 NEB BMPR1A LBR BBS1 SDHD ASXL1 FGFR1 RET RLIM RRM2B SETD5 SFTPA1 HNF4A CAV1 CHRNE JAK3 BMP2 CFTR AMACR GATA1 ATM STUB1 CTBP1 RYR1 MCIDAS MEGF10 NODAL ARX RAD21 ACTA1 FGFR2 TP53 BCOR EPB41L1 NAB2 VARS1 FUZ SUFU PSAP FGF8 PEX13 GAS1 B3GLCT ABCC8 CYBC1 SCN4A MSX1 ELN FANCD2 FGFR2 CHRND RET ALDH18A1 GDNF GP1BB TP53 GLI3 ADAMTS2 CYP27A1 FRAS1 DIS3L2 PNKD QDPR TPM2 ZMPSTE24 CEP41 DLL1 CDH1 CCNQ MYO9A SPAG1 AGGF1 CLTC PTEN PSEN1 HFE NOTCH1 PMS2 TERC SOX10 RPL27 SEC23B CDON TAF1 ADAR PPOX TCF3 GDI1 CC2D2A GREM1 PTCHD1 AP2S1 TK2 STXBP2 CREBBP STK36 MYH8 NEDD4L SCN3A NDUFB11 DOCK6 ZC4H2 EDNRB DIS3L2 KRAS KNSTRN PHOX2B CDK19 SLC5A7 GRIP1 INPP5E FANCD2 FAT4 MLH3 JUP GPC4 H19-ICR SCN4A PUS3 CIITA PIEZO2 ZIC2 RAD50 MATR3 DNAJC21 PEX26 COL13A1 ZMYND11 DISP1 HYDIN CHRNE NBN MAP2K2 DDIT3 IL2RA ENPP1 CTC1 NCAPG2 FOXH1 KCNC3 YWHAG SEMA3E BAAT ADH1C PRTN3 SP110 SLC6A3 XYLT2 KIT LIG4 GP1BB TRNS1 INPP5E GMPPA KATNIP SALL4 SI SKIV2L SCN4A ZAP70 ALDOB MNX1 IRF9 ZNF81 NECTIN1 ND5 KIF1A MATR3 IDH2 BRCA1 RPS6KA3 NRXN1 FGFRL1 RMRP FBXO7 ADAMTS3 ALS2 SALL4 PEX3 DYNC1H1 CTNND1 KRAS AAAS CAMK2A PANK2 OTC C4A KIF1A TRNQ GCK KIAA0586 RAI1 SH2B1 LBR SBDS DNAI2 CYP7B1 PEX1 CHRM3 TPM3 ATXN8 EPRS1 GRIN2D MFF TRNE ASPA KCNQ3 SERPING1 TNFAIP3 ELN PTCH2 MAP1B TREM2 MSH2 DHCR7 TRMT10C KITLG KIAA0586 GP1BB SDHB CAMK2B AMER1 PALB2 SPP1 LBR NCF2 TWIST2 CACNA1A MKKS NOP56 TBCD PTPN22 FOXP3 KIF5A CEP57 FGFR2 AKT1 ZFPM2 SDHA TRNF NUS1 SOX5 PCNA STAT6 CDKN1C CDC73 CEP120 HBB PITX2 PEX16 XIAP TRAPPC12 MLH1 ATP7A DNM1 RNASEH1 FANCB CDK4 SMARCD1 AFF4 PLAA KLHL7 CDON CHCHD10 LRRC8A RPL26 RMRP PDE8B DVL3 STXBP1 ANAPC1 SLC1A4 PTPN12 TCF4 AGRN MLH3 CTCF FBLN5 SCN8A MSH6 GAS8 POLG ACTB PEX16 NIPBL FLNA HABP2 RAC2 SLCO2A1 DLX4 CD109 TRNL1 FGFR1 CHMP2B SLC37A4 LRP2 ZIC2 COQ2 SRP54 LINGO1 DDHD2 SQSTM1 KLHL40 RNF6 CACNA1G FLVCR1 FA2H COL14A1 CDKN2C PIGN MED12 CCDC47 ND2 ADAT3 PSAP CPOX RPS17 APC2 KIF7 SERPINA1 ENG TNFRSF1A KIAA0319L LCT SYT1 TP63 BCL10 YARS2 NSD1 F5 SMC1A PIEZO2 CREBBP VAMP1 TMEM237 TMEM231 TBX1 SLC19A3 ATRX TNFSF12 EPCAM MECP2 PGAP3 IL10 MLH1 ABL1 ATXN2 REV3L MAPT TARDBP SPG11 CTNS NCF2 SYNJ1 TBK1 GUCY2C PSTPIP1 RNASEH1 PPP2R3C NSD2 VAMP1 NOP10 NOTCH3 DNAAF5 PDHA1 EDNRB FH ATP6V1A ARV1 EP300 DCTN4 CCND1 FCGR2A TGIF1 DNAH5 MBTPS2 ARFGEF2 TRIM28 ZNF41 NDUFS3 SSR4 ALG8 CD79A PIK3R1 GRHL3 HNRNPU ALS2 FTL CCND1 STEEP1 SPG7 MAP2K1 MKKS ECE1 SAR1B ATAD1 LMAN1 AFF4 ALDH18A1 GBA FGB IL23R COX2 SMO INS CYBA CHAMP1 MYH11 ALDH18A1 FGF8 EPHX1 TGFBR2 GBE1 PLA2G2A TCF4 SDHC SNAI2 LMNA POGZ CDCA7 CDON GLI3 SREBF1 ITGA2B SLC25A13 TDGF1 DYSF SLC5A1 GIGYF2 SIX6 F11 HOXB1 FOXH1 GLUD2 PPP3CA WAS TP53 EHMT1 NF2 DYRK1A FAS TOP3A WDR35 HPS1 PTEN TGIF1 G6PC1 CCDC28B KRAS GTF2I TNFRSF1A DACT1 TPRKB TWNK HGSNAT GNAQ FBLN5 RIPK4 MYO9A CYFIP2 KCNA2 COL13A1 TWNK EP300 OSGEP CIITA SETD5 ZSWIM6 CSPP1 CCR1 MINPP1 PLEC MED12L WNT4 ITGB2 EFL1 FAS UPF3B SFTPA2 KIRREL3 GP1BA SLC10A2 TWIST2 SKI RAD51 ANTXR2 MSH3 DHDDS TGFB1 HCFC1 NPHP1 TECPR2 XRCC2 GPHN GREB1L ERAP1 FARSB PACS1 FCSK ODAD1 GDAP2 PHOX2B KEAP1 GBA NME8 LETM1 TBX4 NEUROD2 ELANE RFWD3 MBTPS2 GPC4 MLH1 TBP CDKN1B KLRC4 DICER1 MMP1 DLK1 F13A1 MLXIPL PIGN STX3 IQSEC2 HLA-DRB1 MPL CHMP1A AK2 CD55 RETREG1 MVK DLK1 ITGB4 LMOD3 ELANE GP9 CHRNA1 GPR35 MYO5B BAZ1B MED12 CDKN1A WT1 KIFBP TANGO2 PIK3CA MID1 GRIN1 MEIS2 GP1BA ARHGEF6 COX7B BMP4 BRCA2 ACOX1 ERCC2 TGFB3 LAMA3 AKT1 KCNAB2 SETX EDNRB CEL CHCHD10 MSR1 ADAM17 DISP1 TRNL1 UBE3B CDKL5 KMT2D SLC6A5 UBR1 EEF1A2 CLTC COL7A1 CASP8 ACTB ABCC2 GTF2IRD1 KCNK9 CAVIN1 SLC9A7 CTRC FRMPD4 WNT7A SPINK5 APC PRKRA NGLY1 PGAP2 STAG1 FANCM OPTN RPL10 CDKN2A SDHD RSPH9 NOTCH2 PACS1 MYORG NAA10 STXBP1 PMS1 DNAJB6 REPS1 ATP1A3 PIK3CD ATXN3 USP9X TCF4 POLG DAB1 SHPK RFX6 HLA-DPA1 ERCC4 GUCY1A1 SETBP1 ARHGAP29 PIEZO2 STN1 DCX GPC1 CYP27A1 PROKR2 WAS TJP2 CFAP221 ATP2A2 GJB2 BRCA1 TBX3 NF1 AP1S1 LAMB2 TBK1 PHGDH ABCC6 CD81 POLG2 FIG4 DDX59 KLF11 BMPR1A SLC19A2 COL3A1 ACD SATB2 CYBA HLA-DPB1 GLIS3 TERT KIT SUZ12 FOXH1 CLCN4 GABRA5 MECP2 GFI1B AKT1 CASP10 TNPO3 XRCC4 NIPBL ACOX1 NEUROD1 UBQLN2 SLC1A2 PANK2 PITX2 PTRH2 GAS1 MYCN MAPT IL10RA ATP7A GMNN AR TRNW NEB CTLA4 IL1B ADAMTS3 SOX10 SPECC1L HLA-B COL5A1 KDM5B BLM CDON PDX1 FKTN AKR1D1 ADA2 VPS51 DISP1 USB1 FGFR2 NEPRO MUTYH FAH MSH2 PYGM NEK1 LIG4 POLE DNMT3B RPL35 FAS DNAJB6 EEF1A2 HPDL CDH15 DPYS LIFR TDGF1 ALS2 CACNG2 FTSJ1 SLC35A2 FGF8 CCDC40 CDKL5 SRP54 CDC6 MSH2 PPM1D TINF2 ATXN2 ARSA SDHC POT1 CFTR FGG FOXE1 ITGA2B KMT2A ITGB3 TBX3 ORC4 STXBP1 IGF2R ASCC1 ASCL1 ATXN7 GATA6 SLC52A2 ARNT2 KCND3 UBB STAT1 ELP1 TGFBR2 STAG2 LMX1B KCNA2 SALL4 GJB1 SIX3 BMPR1A L1CAM RAD51 LONP1 RAD51 CISD2 IGHM CXCR4 MEFV PALLD PTDSS1 SLC44A1 NOTCH3 AHCY POLR3A SKIV2L REEP1 TERT TRPM3 ALG3 SNAI2 SFTPC FOXJ1 ATP11A CYP7B1 NPC1 AICDA FANCI NRAS DLG1 NDUFS1 HBB TNFRSF13B UBA5 PEX6 CFAP298 ZFYVE26 SALL4 FGFR1 TRIM28 HTT ZIC2 NPC2 PIGV ALMS1 SMAD7 DOK7 HTT FGF8 SBDS RET SETX GPC3 DACT1 TUBB4A MDM2 FGF20 DDX6 PQBP1 HNF4A MMEL1 RASGRP1 CHEK2 FANCA DMP1 TTC12 KRT18 CHEK2 KLLN IARS1 PPP1R12A HNF1A GAS1 MAN2B1 KIF23 PTCH1 KCNQ1OT1 TPM3 MGME1 SPG7 CDH11 STUB1 FGF8 GLI2 GAS2L2 SLC6A3 BRAF DSP CNTNAP1 IL12A PTPRJ CHRM3 POLG2 IRF5 APP SET CD96 RTEL1 MYH7 MYOT JAK3 PDGFRA TXN2 DNAJC21 MPI DKK1 MYCN BRAF LMNB1 FMR1 RHBDF2 VAMP1 DDX59 PAH RTL1 CAMK2B WRN TGFB1 ALDH18A1 EXOC6B RPS26 SLC39A4 PIGA CD3E SMO DGUOK MID1 SCN9A FGFR3 TGM6 SCARB2 ASH1L HPRT1 ASCL1 TARDBP UPB1 APC VAC14 CACNA1A ABCB1 PEX10 SLC46A1 MSH3 JAK1 RET DNAJB13 JMJD1C SLC30A10 BUB1 PALB2 NRXN1 IL12B SDHC GEMIN4 TMEM237 JAK2 TBX1 PIGT RRM2B ZAP70 ATP13A2 TSPYL1 COX4I2 RFXANK PEX12 FKRP FLNA HCCS B2M NOTCH1 CORIN STXBP1 PTPN3 CDH11 PLAA MADD GCDH KLHL41 LIMK1 HMGA2 ZBTB24 EP300 SPART GNAO1 CDKN2A EP300 RPS10 TANGO2 PLCG2 POLG PIGO STAT4 SOD1 MAP3K7 NFKBIA VAC14 PKHD1 SPG21 SIN3A COL7A1 SLC6A19 BRCA2 PTCH1 LMNB1 WDR4 HNRNPK EDNRB IGHM MEN1 FASLG TGIF1 MUSK PYCR1 TAF1 ATRX POLG TNXB DEAF1 PLA2G6 ADGRG1 MRE11 TK2 MLH1 EMC1 DISP1 POGZ PLG TYMP ORC6 CD3G LONP1 GRIN2D TGFBR1 PIGV IGH CYBB MCOLN1 POLG SERPING1 LPIN2 NTHL1 GYS2 MACF1 B4GALNT1 TGIF1 SETBP1 MAPT ACTA1 ERLIN2 RRM2B CPLANE1 WFS1 HLA-B HDAC4 SLX4 FREM1 DNMT3B ATP1A3 RECQL4 MYO1H LEMD3 ATP1A3 RPL10 MEFV GABRD ITCH SEMA4A TRMT5 EHMT1 ASXL1 NEK10 DCC FIG4 RPL5 MKS1 RPS27 SURF1 TFAP2A RPS24 RPL35A UFD1 ARL13B HNF1B HNRNPH2 UBE2T SRP54 GBA MECP2 DKC1 CHRNG RTEL1 SHANK3 SF3B4 LAMB3 KCNQ1 PTCH1 EIF2AK3 RECQL4 TDGF1 PRKRA ARL6 ABCA3 TRAPPC12 MYOD1 RAI1 HFE NDUFS2 PHKA2 SALL1 ZEB2 PIGO SMC1A PIBF1 FAM13A ATXN8OS NEK1 ERCC4 KCNQ2 NEFH SIX3 NALCN OCRL ATXN3 CENPF PAX3 HSD17B10 SMC3 ARPC1B GATA1 RAPSN RAB11A DLL1 UROD RBPJ HLA-DRB1 HIVEP2 SHH TPM3 PHOX2B DLC1 H19-ICR SLC25A13 BMPR1A HDAC8 MLH3 GRHL2 STAG2 EFL1 TERC BUB3 RAD51C MASP2 ITGB3 FGFR2 MAPT TRIP13 MEG3 RRAS2 KMT2C AIRE DNAAF6 BCR LRP12 SPG7 RNF125 SCN3A PQBP1 BIN1 SNAP25 CYP7B1 GDNF IGF2 DLL1 PABPN1 ERGIC1 MAN2B1 COMT PRKCD BLNK PLA2G4A MSH6 EDNRB FCGR2C KAT6A AAAS ARX CLCN1 APC IRF5 TP53 WT1 LIPA PRPH LARGE1 RPS6KA3 SALL1 SERPING1 TMEM67 BTNL2 ABCD1 WNT3 OCA2 TGIF1 ASCC1 PIGN DNAH1 PIEZO1 FAT4 ALG13 JAK2 COL1A1 AGTR2 MPI FREM1 INSR ERCC6 PRPS1 POLR3B COL7A1 RTL1 SHH TUBB4A ARID1B KIT ARL3 GABRG2 OSGEP NUTM2B-AS1 CDKN2A LAMA3 IKZF1 SPECC1L MRPS34 SHH PLOD1 YY1 PIK3C2A MYO5B NDUFAF2 SNRPB CTHRC1 CEP120 NEB SEC63 PTEN MYC DYNC2I1 CTNNB1 RAD51C PLEC DLL1 RAB39B SDHB REST KCNQ5 TGFBR2 CLIP2 IRF6 H19 KLHL41 RSPO2 HIRA DRC1 IRF5 ARMC9 MEN1 COX1 CSPP1 SIX3 FOXG1 PTF1A TIMM8A ELN MGMT EXTL3 POLG MYD88 BUB1 RPL11 DCTN1 PORCN PHOX2B FLVCR1 FOXP3 USP9X ND4 AP3B1 POLG PTS CBL POLA1 PKHD1 MITF AXIN2 COLQ SON EDN3 KLHL41 MIR17HG DVL3 TRIP4 RPL11 HESX1 CHEK2 GABRB2 SPG11 DOCK8 MEOX1 STK11 PEX2 TTC37 DACT1 SMAD4 DAXX POLR1D TDGF1 NTRK2 GLA AP1B1 ACTA1 LRRC6 CHRND RPL15 FGB DYNC2I2 RARS1 SHH DDC CHST14 TRNV KIT NEXMIF NFIX BACH2 PFN1 TJP2 SLC52A3 GALC MUTYH IL12RB1 CCNO IL21 SLC25A4 KIT TSPAN7 SLC35C1 SDHB HRAS C12ORF65 SLC35A2 VPS13A ITGA2B NHP2 FRAS1 MYCN NBN TRNH GAS1 KLHL40 AAGAB TTC7A FGFR1 FTL PDP1 SLC7A7 DNM1L UBE3A AFG3L2 RARB MTM1 TAOK1 GATA6 FGA ND1 CBS NEFH WDR73 LIPA CASP10 DCHS1 SRP54 PAK3 DCHS1 DALRD3 ZEB2 TNFRSF13C ARID2 CHN1 QDPR RPL18 STN1 CHRNA3 CCND1 LMOD1 FUS MRPS28 SLC2A3 PDGFRA PLP1 FLAD1 NUP88 FIG4 TLR2 VAMP1 MECP2 LIPA ADCY6 SLC25A22 ND3 C9ORF72 DNAH9 NECTIN1 POLR3B FANCL FBXL4 ASXL1 GDF3 F5 MED17 CACNA1A ITGA2 TWIST1 PIK3CA AP3B2 PKD1 TNFSF15 RELA PTCH1 APC WNT2B CHD4 ZIC3 CIC CDK4 ODC1 FGFR1 GABBR2 PIGW MMP1 ATRX REEP1 ACSL4 ACTG2 FOXH1 COG7 STS COG4 MID2 PTCH1 POLR3A SNCA GP9 PTEN HLA-DQA1 C19ORF12 TBCE KCNJ11 SNCA NUP214 DISP1 TCTN2 TNXB VANGL1 ACTA2 PEX14 GFI1 KANSL1 TNFSF12 MAPK1 DGAT1 WNK1 RPS28 SDHB PANK2 SPG21 C12ORF65 DNAAF3 CLMP BRIP1 RAI1 MYMK PCGF2 FLCN DNAJC13 CTNNB1 PLVAP DYRK1A RPS20 ARNT2 RAD21 PIK3R5 NONO MAPT LAMC2 AXIN2 AFG3L2 IL1RAPL1 ITCH ITGB4 TGFBR2 ZNF423 CEP120 PSPH SPIB COL7A1 NDUFB8 SPEF2 IL6 RECQL4 HYOU1 JAK2 COQ4 VPS13A ATP8B1 PRSS2 TBL2 AKR1D1 CSNK2B PANK2 FANCE WIPF1 PARN WWOX NEXMIF MTOR RFC2 ATXN3 FGG NPHP3 NOP56 PNLIP POLR2A RRM2B SALL4 PAX7 CCDC103 OFD1 GATA6 IL12A TPM3 CDH1 FLT1 LMNA CD19 EPCAM SIX3 SOX10 SMPD1 EDN3 BRCA1 STAG2 CRKL SEC23A SRCAP CDKN2B CLCA4 SIX1 LRP5 SZT2 TRIP13 COL18A1 MST1 MUC5B MSX1 SEMA3E TCTN1 CDON SRPX2 SRSF2 SLC18A3 BAP1 ANTXR2 FXN NUP62 NOP10 SMC1A POLD1 WNT3 MEG3 PLG DPP9 ARF1 OPA1 CACNA1B COG6 CD79B INAVA PRDM16 UBE3A IVNS1ABP STOX1 MYPN ZIC2 DYNC2H1 SPINK1 APC SOX2 IARS2 TEK EXT2 NF1 USP27X XRCC1 ACTA1 UBTF SPINK5 KCNK9 RTEL1 EIF4G1 NUP133 GPC3 TGFB2 SMAD4 HMGA2 ACTA1 HBB KIFBP RERE IL10RB FLNA DMPK MAD2L2 PITX2 SKI HLA-DQB1 TMEM237 PIK3CA POR PGM3 ABCB11 EOGT WT1 TRNW SMC1A POMT2 SLC46A1 ICOS TEK RTTN RB1 F5 CHAT RFX5 FOXF1 CHST14 SDHC SEC31A ITGA6 TLR4 NCF1 RSPH3 COX7B CYBC1 SLC25A1 PMS2 PTCH1 FANCB GNAS PRNP MPZ MYT1L GLI2 SRCAP GAS1 TMPRSS6 TNFRSF13B F8 TET2 TBP FGFR3 SEC23B WRAP53 PAX3 ATP7A SH3KBP1 RFXAP CARMIL2 ABCC6 BCOR WARS2 EBF3 STAT4 PTEN SMAD3 TERT RUNX1 FAT4 LRP2 RIPK1 KLHL7 UBA5 DNAAF4 ITGB3 UBAC2 DLEC1 CARS2 PARS2 TMEM138 PHOX2B BMPR1A CHD7 RBM8A NLRC4 POMT1 ALS2 MITF PRKCSH CREBBP HPCA CBLIF RECQL4 SYT14 THOC6 TRNL1 RET CTC1 PEX5 SRC SDHB JAG1 RERE STX1A F2 TP53RK FLCN ERLIN2 STAT5B APC MECR ND5 APC SYT2 CCDC39 ATXN7 CFTR CENPT B9D1 WHCR DLG3 RFXANK MTMR14 ND6 HLA-B EP300 PRKAR1A DDOST MAGEL2 CTNNB1 RET MFF INPP5E DLL1 HLA-DRB1 DKC1 TRAPPC11 TERT RPS29 MECP2 KRT8 NODAL GRM7 ACTG2 LRBA ATP6 RAD51C RSPH4A TERT FUS CCDC65 HDAC8 USP7 GNAS FLII ATP6 CDH1 DHCR24 BRCA2 IRF6 WASHC5 NEU1 CHAT ASAH1 ITGB4 HLA-B

Protein Mutations 2

C10D V30M

SNP 1

rs738409

HP:0003003: Colon cancer

Genes 64

FAN1 CDKN2A BMPR1A PIK3CA MSH2 PMS1 AAGAB BRCA2 CEP57 MSH2 APC PMS2 BMPR1A COL14A1 MLH3 SMAD7 APC APC PALB2 BRCA1 AXIN2 DMPK FOXE1 MLH1 APC BUB3 CDKN2A MLH1 PRKAR1A GREM1 CHEK2 TRIP13 APC SH3KBP1 KRAS RPS19 MSH3 PMS1 TP53 BUB1 MLH1 KRAS EPCAM BMPR1A TP53 FLCN MLH1 MINPP1 BUB1B MSH6 TGFBR2 SMAD4 PALLD MDM2 MSH2 MSH6 SMAD4 MUTYH NTHL1 APC TP53 HABP2 MSH2 APC

Protein Mutations 8

A1298C C10D C677T I1370K R451C S492R V600E V600K

SNP 2

rs18011131 rs1801133

HP:0100743: Neoplasm of the rectum

Genes 50

FAN1 SDHB PIK3CA POLD1 SDHC PMS1 RPS20 KEAP1 AKT1 SDHA PMS2 BMPR1A MLH3 SEMA4A BMPR1A SEC23B AXIN2 KIT DICER1 CDKN2A GREM1 CHEK2 POLD1 ENG MSH3 SDHD KLLN SMAD4 MLH1 KRAS EPCAM PTEN STK11 MSH6 PDGFRA TGFBR2 USF3 MUTYH BMPR1A KIT MDM2 POLE RNF43 NTHL1 SDHC POLE TP53 PIK3CA MSH2 SDHB

Protein Mutations 5

C10D R451C S492R S9304A V600E

HP:0002242: Abnormal intestine morphology

Genes 1004

KMT2D SH2B1 RPS7 UBR1 DNAAF1 MITF GTF2IRD1 CAVIN1 SLC9A7 CTRC FRMPD4 SPINK5 APC PGAP2 ARVCF FANCM RPS15A RELA EDN3 RSPH9 NOTCH2 FCN3 RREB1 NAA10 HPGD PMS1 NPHP3 TCF4 POLG SHPK RFX6 PRSS1 HLA-DPA1 PEX11B CFC1 DNAH11 GJB6 POLG STK11 CDC45 GPC1 BUB1B DMD CYP27A1 SNAI2 WAS TJP2 CFAP221 MTTP MCC GJB2 AP1S1 CEP290 TTC7A BRIP1 HSD3B7 SEC24C CDK8 DDX59 BMPR1A PIK3CA B3GALT6 TWNK COL3A1 SATB2 CYBA FANCG FOXF1 HLA-DPB1 WAC KIT CLCN4 ENPP1 AKT1 TNPO3 XRCC4 NIPBL SIN3A FLNB ITGA8 PTRH2 EFEMP2 MYCN IL10RA ECE1 SLC9A3 TRNW CTLA4 ADAMTS3 SOX10 PRKCD SUFU HLA-B COL5A1 CCR6 AHI1 BLM CFAP300 AKR1D1 ADA2 VPS51 COL5A1 PEX19 USB1 MUTYH FAH MSH2 F12 NEK1 LIG4 POLE DNMT3B RPL35 FANCL NDUFB11 CPLX1 FAS FAN1 RFX5 SEMA3D FTSJ1 MYRF PIK3CA ODAD4 CCDC40 SPINT2 SRP54 MSH2 TINF2 CAV1 SDHC MKS1 VANGL1 CFTR FOXE1 CCBE1 AGA KMT2A FANCF MMP21 GDNF ASCL1 GATA6 ND4 RPS19 FLI1 STAT1 MBTPS2 SALL4 BMPR1A L1CAM SOX10 LONP1 L1CAM BTK MSH6 NOTCH3 CXCR4 RSPH1 MEFV CCBE1 RET PALLD SMAD4 SMAD4 SKIV2L STAT1 ISL1 HMBS ALG3 SNAI2 TCOF1 FOXJ1 FANCI NRAS CREBBP PEX6 NOTCH2 CFAP298 SALL4 PORCN CEP57 FGFR1 RAD21 PIGV SMAD7 CLMP DOK7 FGF8 SBDS RET RERE FLNA TCTN3 PTPN22 DACT1 SLC6A8 TTC7A TRNS2 CDON EDNRB FGF20 C1R MMEL1 RASGRP1 FANCA DMP1 TTC12 RPS19 IL12A-AS1 KLLN PPP1R12A TYMP CDKN1B GAS1 TGFB1 CCN2 MAP3K7 HYLS1 NPM1 GAS2L2 CTLA4 IL12A CNKSR2 PTPRJ APC IRF5 SAR1B GDNF DSE USP9X DHODH RPGR NSUN2 JAK3 PDGFRA FERMT1 DNAJC21 MSH2 DNAL1 NCF4 MPI MYCN RHBDF2 DDX59 TGFB1 MKS1 EXOC6B RPS26 EWSR1 SLC39A4 FLNA SMO RNF43 MNX1 RPGRIP1L FBN2 ASCL1 APC SLC29A3 BAX ABCB1 PEX10 MSH3 JAK1 RET PGM3 DNAJB13 JMJD1C TP53 BUB1 PALB2 TRNK SDHC ZEB2 EDN3 TMEM237 TBX1 ZAP70 ATRX NCF4 COX4I2 ODAD2 PEX12 HCCS B2M ENG DNAI1 MCM6 MDM2 MADD CEP104 FANCC AXIN2 LIMK1 MED12 AMACR PIGL HMGA2 ZBTB24 PCSK1 APC NCF1 EP300 IL2RB NRTN CDKN2A SAA1 EP300 PMS1 RPS10 PLCG2 BRCA2 POLG TTC37 PIGO LTBP4 ACOX2 IGLL1 SLC6A19 ODAD3 PERCC1 SYP BRCA2 PTCH1 HNRNPK EDNRB IGHM PDGFRB FASLG SOX10 MUSK EPCAM APC TMEM216 CISD2 GDF2 BUB1B CYBB RAD54B MLH1 EDN3 SLC6A8 PLG AURKA GPIHBP1 FLCN TYMP COX3 CD3G COG8 PIGV USF3 ACVRL1 CYBB MTTP SERPING1 LPIN2 NTHL1 SETBP1 ITGA6 STRA6 FANCB STAT3 CPLANE1 GLI2 SLX4 DNMT3B RECQL4 SLC2A2 RPL31 MYO1H LEMD3 HMBS GABRD SEMA4A TRMT5 PALB2 ASXL1 NEK10 CCDC22 DMPK DCC RPL5 MKS1 RPS27 PTCH1 TFAP2A RPS24 RPL35A UFD1 ARL13B AHI1 UBE2T SRP54 MEFV RTEL1 DNAAF2 KDM3B SF3B4 ACTG2 EIF2AK3 ABCB4 ARL6 PEX12 BDNF AP1S1 MYOD1 HNRNPK PIGY SALL1 HELLS IDS ZEB2 PIGO POLE SMC1A EYA1 RNF43 PIBF1 SETD2 ERCC4 SIX3 OCRL DZIP1L NEUROG3 CENPF PAX3 PDGFRL SMC3 POU2AF1 ARPC1B GATA1 POLG RAPSN TSR2 HLA-DRB1 PHOX2B DLC1 CEP41 BMPR1A HDAC8 MLH3 CHD7 POLR1C EFL1 TERC BUB3 RAD51C RBM10 MASP2 TRIP13 CC2D2A BMPR1A FGFR2 AIRE PARN HSD3B7 RFWD3 DNAAF6 OPLAH SDHD WFS1 GDNF NHP2 NOD2 ERGIC1 COMT ZMYND10 BLNK PLA2G4A KRAS MSH6 EDNRB KAT6A ARX SDHB COL5A2 TP53 WT1 LIPA SDHC RPS6KA3 SMAD4 KDM6A SALL1 SERPING1 SEMA3C EDN3 TMEM67 PIGN MYLK DNAH1 POLD1 UBR1 NODAL ND6 PIEZO1 IRGM ALG13 LRRC56 COL1A1 DHCR7 AGTR2 MPI FREM1 ZNF711 F13B INSR BMPR1A LBR BBS1 SDHD ASXL1 ARID1B KIT FGFR1 ARL3 RET RRM2B SETD5 CDKN2A SHH JAK3 PIK3C2A CFTR AMACR GATA1 CTBP1 MYO5B CEP120 MCIDAS ARX PTEN MYC FGFR2 TP53 CTNNB1 BCOR RAD51C SUFU DLL1 RAB39B PEX13 B3GLCT TGFBR2 CLIP2 CYBC1 ELN RET ALDH18A1 GDNF HIRA GP1BB DRC1 TP53 DIS3L2 IRF5 ARMC9 MEN1 ZMPSTE24 COX1 CEP41 CSPP1 CCNQ PTF1A ELN MYD88 SPAG1 BUB1 PORCN PHOX2B PMS2 FOXP3 SOX10 RPL27 SEC23B POLG CBL POLA1 PKHD1 MITF AXIN2 EDN3 PPOX MIR17HG TCF3 GDI1 RPL11 GREM1 CHEK2 PTCHD1 STXBP2 CREBBP STK36 DOCK8 STK11 PEX2 TTC37 DACT1 SMAD4 EDNRB POLR1D TDGF1 KRAS GLA AP1B1 PHOX2B LRRC6 RPL15 INPP5E FANCD2 FAT4 MLH3 CHST14 CIITA KIT BACH2 DNAJC21 MUTYH PEX26 IL12RB1 CCNO IL21 HYDIN IL2RA KIT CTC1 TSPAN7 C12ORF65 BAAT PRTN3 KIT FRAS1 LIG4 MYCN TRNS1 TRNH AAGAB TTC7A INPP5E KATNIP SALL4 SI SKIV2L ZAP70 MNX1 ZNF81 BRCA1 RPS6KA3 SLC7A7 FGFRL1 RARB RMRP GATA6 ND1 ADAMTS3 LIPA PEX3 CASP10 PAK3 ZEB2 C4A RPL18 TRNQ KIAA0586 LBR SBDS DNAI2 LMOD1 CYP7B1 PDGFRA PEX1 CHRM3 NUP88 TRNE TLR2 SERPING1 TNFAIP3 ELN PTCH2 DNAH9 MSH2 ASXL1 DHCR7 F5 KITLG SDHB AMER1 NCF2 MKKS PIK3CA FOXP3 PKD1 CEP57 TNFSF15 AKT1 ZFPM2 APC SDHA TRNF WNT2B CEP120 XIAP MLH1 ODC1 PIGW ACSL4 ACTG2 FOXH1 KLHL7 MID2 LRRC8A RPL26 RMRP PTEN PTPN12 TBCE TCF4 MLH3 FBLN5 DISP1 TCTN2 MSH6 ACTA2 PEX14 GAS8 PEX16 DGAT1 NIPBL HABP2 RPS28 RAC2 SLCO2A1 SDHB C12ORF65 DNAAF3 CLMP LRP2 ZIC2 SRP54 PLVAP DYRK1A RPS20 RAD21 COL14A1 CDKN2C MED12 AXIN2 CCDC47 CPOX IL1RAPL1 RPS17 ITCH APC2 KIF7 ITGB4 ENG ZNF423 LCT SPIB TP63 NSD1 SPEF2 IL6 CREBBP TMEM237 HYOU1 TMEM231 TBX1 EPCAM JAK2 MECP2 ATP8B1 PGAP3 PRSS2 TBL2 IL10 MLH1 AKR1D1 ABL1 FANCE WIPF1 NCF2 GUCY2C MTOR RFC2 PSTPIP1 NPHP3 PNLIP NSD2 SALL4 CCDC103 OFD1 DNAAF5 GATA6 IL12A EDNRB LMNA EPCAM SOX10 EDN3 BRCA1 STAG2 EP300 SRCAP CDKN2B DCTN4 CLCA4 SIX1 FCGR2A MST1 TGIF1 DNAH5 MBTPS2 SEMA3E TCTN1 SRSF2 SLC18A3 ZNF41 ALG8 CD79A PIK3R1 HNRNPU NOP10 POLD1 CCND1 STEEP1 PLG COG6 CD79B MKKS ECE1 INAVA PRDM16 SAR1B IVNS1ABP DYNC2H1 IL23R COX2 SPINK1 APC TEK SMO USP27X SPINK5 RTEL1 CYBA MYH11 GPC3 SMAD4 KIFBP EPHX1 TGFBR2 RERE IL10RB FLNA PLA2G2A TCF4 MAD2L2 SKI TMEM237 SNAI2 PIK3CA ABCB11 CDCA7 SLC46A1 TEK RTTN FOXF1 CHST14 SDHC SLC5A1 TLR4 NCF1 RSPH3 COX7B CYBC1 PMS2 GNAS SRCAP TMPRSS6 TET2 FGFR3 WAS SEC23B WRAP53 FAS PAX3 HPS1 ATP7A PTEN SH3KBP1 RFXAP CARMIL2 BCOR CCDC28B KRAS GTF2I TNFRSF1A STAT4 PTEN FBLN5 TERT RUNX1 FAT4 LRP2 RIPK1 TWNK EP300 SETD5 DNAAF4 CCR1 MINPP1 UBAC2 WNT4 ITGB2 EFL1 TMEM138 PHOX2B BMPR1A RBM8A FAS NLRC4 UPF3B SLC10A2 RAD51 ANTXR2 TGFB1 HCFC1 NPHP1 XRCC2 CBLIF RECQL4 GREB1L ERAP1 FARSB PACS1 TRNL1 RET ODAD1 CTC1 PEX5 SRC SDHB PHOX2B KEAP1 NME8 LETM1 STX1A FLCN ELANE STAT5B RFWD3 APC ND5 APC MBTPS2 CCDC39 CFTR B9D1 WHCR GPC4 DLG3 MLH1 RFXANK KLRC4 DICER1 EP300 PRKAR1A F13A1 MLXIPL PIGN STX3 IQSEC2 CTNNB1 RET AK2 CD55 HLA-DRB1 MVK DKC1 RPS29 ACTG2 LRBA GPR35 MYO5B BAZ1B MED12 RSPH4A CDKN1A CCDC65 KIFBP ARHGEF6 DHCR24 WASHC5 ERCC2 AKT1 KCNAB2 EDNRB ADAM17 HLA-B TRNL1 UBE3B

Protein Mutations 1

C10D

SNP 8

rs1217414 rs12760457 rs1310182 rs2097432 rs2476601 rs2488457 rs33996649 rs3789604

HP:0100834: Neoplasm of the large intestine

Genes 155

FAN1 RPS7 MSH2 POLD1 SDHC PIK3CA AAGAB RPS20 RPL31 PMS2 MSH2 COL14A1 SEMA4A BMPR1A PALB2 BRCA1 RPS26 FGFR3 AXIN2 DMPK FOXE1 DCC APC KIT RPL5 RPS27 RPS17 RPS24 CDKN2A RPL35A RPS15A ENG APC SH3KBP1 BAX KRAS RPS19 MSH3 PMS1 PTEN TP53 BUB1 TCF4 RPL18 EPCAM PTEN EP300 BMPR1A TP53 CTNNB1 MLH1 STK11 MINPP1 BUB1B MSH6 PDGFRA TGFBR2 MCC BMPR1A PALLD MDM2 POLE TLR2 RNF43 SMAD4 AXIN2 TP53 MSH2 APC PDGFRL SDHB NRAS GATA1 CDKN2A BMPR1A PIK3CA PMS1 RPS10 BUB1 TSR2 SRC BRCA2 DLC1 KEAP1 CEP57 AKT1 APC SDHA PMS2 BMPR1A MLH3 FLCN SMAD7 RPL27 MST1 SEC23B APC APC AXIN2 MLH1 BUB3 DICER1 RPL11 MLH1 PRKAR1A GREM1 CHEK2 POLD1 TRIP13 BMPR1A CCND1 EPCAM APC BUB1B DOCK8 SDHD RPS19 RPS29 RPL26 KLLN RAD54B SMAD4 MLH1 BLM KRAS AURKA GPR35 RPL15 FLCN ADA2 MLH3 MSH6 PTPN12 MLH3 SMAD4 USF3 MUTYH KIT MSH2 TGFBR2 MSH6 TP53 PLA2G2A PTPRJ MUTYH AKT1 NTHL1 SDHC POLE RPL35 APC PIK3CA HABP2 RPS28 SDHB

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 375

BRIP1 SLC37A4 RPS7 PDGFRA MSH2 POLD1 CTNNB1 TREX1 JAK2 MS4A1 CASP8 MEN1 RPS20 RAD21 RNF6 RHBDF2 RTL1 WRN COL14A1 BMPR1A CDKN2C RPS26 SDHD AXIN2 POU6F2 RNF43 APC KIT CPOX RPS17 CDKN2A SERPINA1 CDKN2A HNF4A RPS15A ENG APC TGFBR2 SDHD BMP2 BAX SPIB BCL10 MSH3 F5 PMS1 PIEZO2 TP53 BUB1 TCF4 CTHRC1 SDHC TNFSF12 PAX4 SETBP1 EPCAM PTEN EDN3 TP53 CTNNB1 MLH1 NAB2 STK11 SUFU BUB1B PSAP SDHB REST TGFBR2 ENG ABCC8 WWOX MCC H19 PTPN3 MTOR BRCA1 MDM2 PDGFRL NF1 AXIN2 PYGL BARD1 BLK TP53 IL12A CDH1 APC CD19 IL1RN FH ATP7B MEN1 CD81 SMPD1 NRTN MGMT CDKN2A KLF11 BMPR1A PIK3CA SLC37A4 PMS1 RPS10 CDKN2B FAH BUB1 PTEN BRCA2 HFE TRIP13 PMS2 RPL27 MST1 SEC23B PKHD1 AXIN2 AKT1 PTCH1 PPOX TNPO3 TRIM28 BAP1 EDNRB NEUROD1 MEN1 RPL11 CC2D2A FASLG GREM1 CHEK2 POLD1 CCND1 EPCAM APC ECE1 IL1B GDF2 BUB1B DOCK8 PRKCD TP53 STK11 RAD54B TTC37 MRE11 SMAD4 DAXX MLH1 BLM DIS3L2 KRAS SDHD AURKA PDX1 APC RPL15 FLCN ADA2 RHBDF2 PHKG2 INS MLH3 GPC4 H19-ICR SMAD4 USF3 ACD CR2 MUTYH KIT HBB FAH RAD50 ACVRL1 MSH2 TGFBR2 TJP2 PLA2G2A CDKN2B MUTYH IL12RB1 NTHL1 POLE RPL35 NBN SDHC FAS SETBP1 KIT PIK3CA LMNA ABCB11 WT1 SDHB FAN1 ICOS SEMA3D SLC25A13 SDHC PIK3CA AAGAB RPL31 PMS2 RPGRIP1L MSH2 C11ORF95 GNAS HMBS ARSA SDHC BRCA2 SEMA4A TNFRSF13B PALB2 BRCA1 RAD51D POT1 FGFR3 DMPK FOXE1 SEC23B DCC TP53 RPL5 RPS27 RPS24 RPL35A FAS IGF2R PTEN ASCC1 SH3KBP1 AXIN1 G6PC1 APPL1 KRAS RPS19 IGF2 KRAS CASP10 STAT1 PTEN TNFRSF13C NFKB1 KCNQ1 RPL18 GCK EP300 BMPR1A RAD51 MINPP1 TERF2IP MSH6 DLEC1 HFE PDGFRA NFKB2 PHKA2 BMPR1A PALLD POLE TLR2 RNF43 SMAD4 AHCY PTCH2 SMAD4 SKIV2L MSH3 MITF HMBS MSH2 DZIP1L PDGFRL POU2AF1 SDHB NRAS GATA1 HBB HFE PALB2 UROD PIK3CA MET TSR2 SRC SDHB DLC1 KEAP1 JAG1 TNFSF15 CEP57 RELA AKT1 H19-ICR APC SLC25A13 TRIM28 SDHA TMEM67 BMPR1A MLH3 STAT6 FLCN CDKN1C SMAD7 APC APC RET HBB MLH1 CDKN1B BUB3 GPC3 DICER1 MLH1 PRKAR1A TRIP13 CDK4 MEG3 BMPR1A CTNNB1 MMEL1 INPP5E ATRX RASGRP1 CHEK2 TERT DLK1 SDHD CHEK2 RPS19 RPS29 RPL26 KLLN GPC3 HNF1A CDKN1B GPR35 IGF2 PTEN KCNQ1OT1 RAD51C CDKN1A MC1R PRKCD WT1 MSH6 PTPN12 PIK3CA GNAS KCNJ11 HNF1A MLH3 SDHB APC BRCA2 MSH6 TP53 SPRTN PTPRJ TNFSF12 AKT1 SDHC APC IRF5 SMAD4 GDNF SEMA3C HABP2 RPS28 CEL MSR1 SDHB

Protein Mutations 5

C10D G12D G12V G34A V600E

SNP 2

rs2231137 rs3114018

HP:0002664: Neoplasm

Genes 1522

SF3B1 GFI1B IGF2 FIBP RPS7 WT1 COL7A1 TREX1 HSPG2 CASP8 SLC22A18 MC1R TFE3 KRAS PLAG1 OFD1 BRAF NUMA1 KRT16 PSENEN CTPS1 APC SOX9 FANCM OPCML CDKN2A RPS15A CTNNB1 SDHD EDN3 FCN3 NELFA GJC2 MALT1 HPGD GLI1 CD70 SPINK1 LETM1 PMS1 LRP5 HNF1B EXT1 TCF4 ELMO2 MET ANTXR1 KRT16 KRT10 PAX4 SETBP1 TERT WT1 SMARCB1 GJB6 HRAS STK11 BUB1B GNPTAB MYD88 MCC GJB2 BRCA1 TP63 PDGFRL TARS1 NF1 FGFR3 KARS1 BARD1 BRIP1 GATA2 IL1RN BRAF CD81 TNFRSF13B TYROBP AR LIG4 KLF11 ABL1 MVK BMPR1A PIK3CA B3GALT6 SLC37A4 SOS1 TSC1 FGFR3 ATRX FANCG TET2 KIT SRP72 MPL TP53 SMAD4 EVC2 MAPRE2 DLST BRCA1 DICER1 HRAS AKT1 RNR1 TSC1 TNPO3 XRCC4 DNMT3A NEUROD1 THPO MN1 NOD2 SRSF2 PPM1D FLT4 ATP7A IL7 KRAS GDNF WNT10A EPAS1 COL1A1 IL1B MRAP ADAMTS3 PRKCD SUFU PTCH1 ERCC3 KRT14 CXCR4 HOXD13 IGF2 LIG4 PALB2 BLM NRAS ERCC3 FOXP1 SDHD TP53 PKD2 PDX1 TINF2 ADA2 MYF6 RHBDF2 POU6F2 PHKG2 CDKN2A RUNX1 ERCC2 MAP2K2 WT1 USB1 GATA4 FGFR2 ACD CR2 MUTYH ARL6IP6 FAH MSH2 RASA1 NEK1 SOX6 NR0B1 LIG4 CDKN2B NF1 NF1 POLE RPL35 SRY SDHAF2 FANCL CPLX1 FAS PRKAR1A PHB SDHA CALR PIK3R1 FAN1 TET2 TMEM216 RSPO1 SEMA3D MDM4 SDHD HRAS NUP214 GJA1 PIK3CA CCND1 RNF6 MSH2 C11ORF95 MVK MCM4 FLI1 TINF2 KIAA0753 ECM1 ARSA ERCC2 SOX2 SDHC SLC26A2 MPL VANGL1 PUF60 RAD51D POT1 CR2 ESCO2 FOXE1 PMVK SRY GJB4 TRIM37 KIT EXT2 PDGFB KIF1B FANCF IGF2R MLH1 GDNF PIK3CA ASCC1 ASCL1 TCIRG1 APPL1 RPS19 BCL10 IGF2 NRAS FLT3 STAT1 BCL10 RMRP GNAI3 KRAS GPR101 BAP1 NKX2-1 MAX BMPR1A DDB2 SMARCB1 RAD51 FGFR3 ALX4 BTK MSH6 NOTCH3 DICER1 CXCR4 CCBE1 RET WT1 TP53 PALLD RNASEH2B WT1 ATR CCND1 KCNQ1OT1 SMAD4 AHCY STK11 FANCC TRNK BCL6 SMAD4 SKIV2L HMBS TP53 TERT PHOX2B SNAI2 BRAF TCOF1 FANCI NRAS REST SDHC HBB HFE CREBBP MET SEC23A CEP57 CTLA4 TRIM28 SMAD7 GNAS BRCA2 PALB2 FGF8 SBDS RET ALK GJB2 CPLANE1 GPC3 TCTN3 PTEN RB1 INTU CYP26C1 LEMD3 PRLR CDON NLRP1 GPR101 DHH HNF4A MMEL1 DNASE1L3 RASGRP1 ATRX CHEK2 FANCA SPRED1 DNM2 FLT4 CHEK2 RPS19 KLLN HACE1 HNF1A PTPN11 CDKN1B GAS1 BRCA2 KCNQ1OT1 NPM1 FGFR3 MC1R MINPP1 PTPN11 TSC2 ABCA5 BRCA2 PLCB4 SCN11A HNF1A BRAF RB1 CBL ARHGAP26 SUFU PTPRJ C1S APC IRF5 GNAQ GDNF TERT MYSM1 XPC TMC8 COL4A5 ERBB3 SLC26A4 CD96 NSUN2 PDGFRA FERMT1 TYR DNAJC21 MSH2 SH3GL1 TUBB RET BRAF ESR1 PAX3 RHBDF2 RTL1 WRN DYNC2LI1 ELANE EXOC6B RPS26 EWSR1 VHL PIGA GCGR POU6F2 RNF43 POLE BRAF MNX1 SFTPA2 CDH23 ASCL1 APC ACVR1 PIGL BAX RAG2 RSPO1 MSH3 PGM3 FGF3 FANCE MPL TP53 COL7A1 BUB1 TET2 PALB2 ACTB PNP SDHC EDN3 XPA TMC6 NEK1 GNA11 KAT6B KRT1 RUNX1 PAX7 NOTCH1 ENG CTNNB1 ETV6 MPLKIP PARN CDKN2A PTPN3 STAG3 MDM2 TP53 LAMC2 NBEAL2 VAMP7 GNA14 DCLRE1C CBL GCDH FANCC AXIN2 PYGL SOS1 BLK WRAP53 IDH1 KRAS CCM2 APC ASXL1 ATP7B ERCC3 SF3B1 EP300 BRCA2 MGAT2 NRTN CDKN2A DICER1 PMS1 RPS10 TBC1D24 FAH BRCA2 ASXL1 BCR C2CD3 KRAS IDH1 IGLL1 RASA1 BRCA2 CHEK2 PTCH1 RNF113A BRAF MBTPS2 EDNRB IGHM PDGFRB RAF1 MEN1 FASLG TUBB NDUFAF6 FOXI1 TGFBR1 EPCAM CYLD SDHB APC CYP2D6 TAF1 KRT17 BRCA1 BUB1B BAP1 GDF2 BUB1B ERCC2 TP53 KRT5 GATA2 BRCA1 RAD54B MRE11 STAC3 DNMT3A MLH1 BCHE EDN3 CDKN1B AURKA NRAS FLCN IDH2 EDN1 ESCO2 USF3 IGH POT1 ACVRL1 JAK2 NBN NRAS SQSTM1 TMEM127 ZFPM2 SLC12A3 NTHL1 ADA CHIC2 STAT3 SETBP1 FANCB FIBP STAT3 STK11 MLLT10 SFTPC HDAC4 NUP214 GLI2 SLX4 TSC1 ERCC6 TP53 CLCNKB KLF6 OGG1 JAK2 PAX6 RECQL4 RPL31 MYO1H FH RPGRIP1L SLC45A2 RPL10 RPL10 HMBS GDF5 TNFRSF10B PIK3CA GABRD TP53 BRCA2 SEMA4A BCR PALB2 ASXL1 KRT6B CCDC22 SAMD9 DMPK DCC ERCC5 RPL5 CTNNB1 RPS27 TRNS2 PTCH1 PTEN TFAP2A RPS24 RPL35A RET AXIN1 HNF1B ARMC5 UBE2T SRP54 SSX2 DKC1 ERCC3 JAK2 GNA11 LAMB3 GJB2 NFKB1 KCNQ1 GLI3 PIK3CA KANSL1 CASP8 MYC RECQL4 ACAN CACNA1S BDNF KIF11 MDH2 MSL3 FGFR1 TERF2IP HFE NFKB2 TOP2A GFI1 SRD5A3 PHKA2 MAX POLE MAP2K1 EYA1 RNF43 ALX3 SETD2 ERCC4 CTLA4 SIX3 LEMD3 OCRL CDH23 DZIP1L MSH3 AR CDC73 PDGFRL TWIST1 POU2AF1 DKC1 CALR LIN28B KRT6A GATA1 MC1R DIS3L2 CD28 CDC73 ADA2 UROD CIB1 TSR2 WNT5A TET2 PHOX2B BMPER KIT DLC1 MSTO1 H19-ICR SLC25A13 ADAR TMEM67 BMPR1A MLH3 POLR1C KRT6B FH EFL1 TERC BUB3 FOXC2 NOTCH3 KIT NSD1 FGFR2 SLC6A17 MAP3K1 TRIP13 MEG3 RRAS2 BMPR1A NF1 DPM1 LIG4 PARN RHOH BRCA2 NF1 TAF15 RFWD3 VHL H19 BCR KRAS VANGL2 KRAS SDHD DVL3 BIN1 ABL1 GPC3 HAX1 FANCA GDNF NHP2 IGF2 VHL CCL2 EXTL3 RUNX1 PRKCD BLNK MSH6 SLC22A18 IL2RG PTH1R SDHB AIP WDPCP APC KCNJ10 ASPSCR1 OCA2 TP53 WT1 SPRTN TET2 TAL1 L2HGDH KIT SDHC ERCC4 GPR143 PRKN SMAD4 SEMA3C TRNS1 BRCA1 SHOX PCNA FANCG CREB1 TRNH VHL MYLK BAP1 SUFU ANTXR1 POLD1 NODAL IGH JAK2 MS4A1 MEN1 TSC2 GATA2 DHCR7 TINF2 F13B RB1 COL7A1 SCN4A BMPR1A DDB2 CDKN2A SDHD CYP11B2 IL7 ARID1B KIT FGFR1 RET CDKN2A LAMA3 CHEK2 TBX2 TBX18 HNF4A GPC4 SHH LMNA BMP2 YY1 AKT1 WT1 BAP1 FZD2 SH2B3 BTK GATA1 RAD54L ATM CTBP1 PTEN SRY RYR1 CTHRC1 MFN2 PTEN RAD21 PTEN MYC SLC26A2 TP53 CTNNB1 RAD51C NAB2 NLRP1 SUFU DLL1 PSAP SDHB REST TGFBR2 TRIP13 IGH ABCC8 IL6 CPLANE1 H19 FANCD2 FGFR2 RET PKD1 DNMT3A REST CHEK2 GNAQ MXI1 BRIP1 DYNC2LI1 GNAS TP53 GLI3 DIS3L2 NRAS PICALM WT1 BAP1 MEN1 TXNRD2 MGMT PTEN MYD88 GNAS POT1 AGGF1 BUB1 PTEN PORCN HFE NUTM1 PHOX2B MSX2 PMS2 SLX4 H19 USP9X RPL27 GNAS SEC23B CBL CD28 PKHD1 AXIN2 TRPV3 KLLN SSX1 TSC1 PPOX KRT17 CARD14 HRAS TCF3 RPL11 CC2D2A GREM1 CHEK2 AP2S1 NRAS TRNL1 ALX1 CREBBP TCTN3 TET2 ESCO2 DOCK8 NRAS STK11 GCM2 TTC37 WT1 SMAD4 DAXX MITF BCL2 DIS3L2 POLR1D TDGF1 KRAS TNFRSF13C KIT PHOX2B SF3B1 RPL15 NF1 TERT TNFRSF1B FANCD2 MLH3 IL7R GPC4 H19-ICR SLC17A9 MEN1 MST1R KIT RAD50 TJP2 DNAJC21 PDCD10 MUTYH IL12RB1 SH2D1A FGFR2 NBN KRAS KIT CASR ENPP1 SDHB HRAS IKBKG PNP EXT2 BRD4 SMARCB1 REST COL11A2 TG KIT LIG4 SUFU NBN RSPRY1 CYSLTR2 SDHD AAGAB BLM RAG1 RNF139 RB1CC1 ACD PTPN11 SLC26A2 TREX1 BMPR1B DDR2 ZAP70 MNX1 MAGT1 AIP GATA2 AR STAR IFIH1 IDH2 BRCA1 USP8 RB1 FGFRL1 SMO USP8 RMRP SLC25A11 MLH3 FUZ DOCK8 SUFU NF2 KDR KRAS RPS14 CASP10 SRP54 ZSWIM6 TBXT PTCH2 EWSR1 TNFRSF13C MTAP NQO2 RPL18 DNAJC21 GCK ERCC6 KDM6B EXT1 SBDS CCND1 SDHAF2 KCNH1 CYLD LMOD1 PDGFRA CAT CHRNG TRNQ ADA NRAS TLR2 SHOX FGFR3 BCL10 TYR KRAS COL2A1 PTCH2 SMO GBA MSTO1 TREM2 JAK2 TMEM231 MSH2 ASXL1 RET DHCR7 NBN PIK3CA NSD2 SDHB EIF2AK4 PALB2 KIF7 PTPN11 PIK3CA HLA-DRB1 STIM1 TMC6 KIF1B TNFSF15 RELA AKT1 NPM1 APC SDHA SDHB STAT6 CDKN1C CDC73 PTCH2 KANSL1 ZSWIM6 FLCN HBB LZTS1 FN1 TRAF7 ACP5 CTNNB1 MLH1 EXT2 RNASEL RNASEH2A IL2RG ATP7A CDK4 CYP11B1 MMP1 SDHB ATRX ACTG2 FOXH1 OFD1 NEK9 STS MUC5B PRKCD PTPN11 PTCH2 LRRC8A RPL26 MSH6 NNT LZTR1 CDC73 PTEN AKT1 AKT1 SASH1 HRAS ANAPC1 PTPN12 KCNJ11 TCF4 GATA2 MLH3 ERCC4 GNB1 DISP1 IDH1 BCR GANAB MSH6 NR5A1 TSC2 GFI1 TNFSF12 TRNP MAPK1 IFNG FLT4 MTM1 WWOX HABP2 RPS28 HRAS SLCO2A1 ND5 SDHB CHD7 BRIP1 SLC37A4 MC2R XRCC3 TNFRSF4 NAGS PHF21A ZIC2 PCGF2 SMARCE1 CTNNB1 SRP54 CDH1 CDK4 RPS20 KCNJ10 RAD21 RNF6 COL14A1 SMO CD19 WRN SRGAP1 CDKN2C AXIN2 GPC6 WWOX HSPA9 FOXI1 CPOX RPS17 APC2 MYH8 SERPINA1 ATM LMX1B ENG POLH TGFBR2 DHX37 VEGFC KIF1B KRT17 DDX41 SPIB CBFB HRAS BCL10 PIGL FGFR1 NSD1 F5 KCNN3 BAX PIEZO2 RECQL4 CREBBP KIT PDGFB PDE6D ABCA5 AKT1 KLHDC8B TNFSF12 EPCAM RARA MLH1 GINS1 EVC PIK3CA FANCE WIPF1 NF2 PDGFRA PRKAR1A CDH1 SDHD PRCC TRNF PTCH1 TNFRSF1B WNT10A WWOX MAD1L1 MTOR WDPCP RNASEH2C NSD2 SAMD9L FH LPP NF1 KRIT1 NTHL1 IL12A HNF1A CDH1 SMARCB1 SMARCE1 CD19 FH FDPS TRPS1 ERCC4 SMPD1 SMARCD2 BRCA1 MPL CRKL SEC23A EXT1 PERP ATM FOXE1 CDKN2B CTSC SIX1 FAM149B1 CDH1 RAD51C ALX3 DLST TRIP13 ING1 PDGFRB FLT3 COL18A1 MST1 TGIF1 TMEM107 SRSF2 TRIM28 BAP1 ANTXR2 CD79A PIK3R1 MAP3K1 NOP10 PIK3CA POLD1 KDSR CCND1 TP53 TMC8 ALK MAP2K1 CD79B SDHC ECE1 PALLD CTSA PRDM16 IVNS1ABP CALR FLNA GPR101 BRCA2 ERCC2 DYNC2H1 TFAP2A COL2A1 DVL1 TERT APC TERT TEK EXT2 TERC ALX4 OFD1 LMO1 PDGFRB RPS14 DCC RTEL1 INS TSC2 FAM20C MYH11 GPC3 SCN9A SMAD4 RASGRP1 HBB TGFBR2 RERE NDP PLA2G2A TCF4 MAD2L2 SKI AIP HMMR SDHC SNAI2 PIK3CA LMNA PGM3 ABCB11 TAL2 WT1 VHL PIK3CA TCTN3 SAMD9L ICOS GLI3 RB1 SLC25A13 SDHC DCLRE1C GCM2 VANGL1 SIX6 WT1 PMS2 KCNH1 BARD1 H19-ICR GNAS TERT CIB1 B3GALT6 GJB3 ERBB2 SDHA KRAS CDC73 TNFRSF13B TET2 FGFR3 WAS SEC23B TGFBR2 TP53 NF2 SMARCA4 NF2 SLC26A4 ANTXR2 WRAP53 FAS SAMHD1 TP53 TET2 ATP7A PTEN SH3KBP1 CARMIL2 MVD PDGFB ABCC6 G6PC1 TRNK KRAS GPC3 PTEN NF2 JAK2 DMRT3 GNAQ RAD51 GTF2H5 TMEM127 TERT RUNX1 FAT4 AR HABP2 NR4A3 EP300 MINPP1 OFD1 RASA1 DLEC1 BIRC3 AIP CD27 PHOX2B BMPR1A KCNE3 PLCD1 RAD51 KRT1 MSH3 MITF EPHB2 DHCR24 RABL3 KRT17 XRCC2 NRAS ITK VHL BICC1 RECQL4 SMARCAD1 MYCN RET CTC1 PTCH1 JAK2 SRC SDHB PHOX2B AKT1 KEAP1 JAG1 VHL LETM1 NLRP1 MEN1 BRCA2 FLCN C2CD3 RFWD3 XPA APC APC SDHD FOXO1 MAFA WHCR GPC4 MLH1 ICOS CDKN1B MTMR14 KIT DICER1 EP300 ZFHX3 MMP1 PRKAR1A KRT9 F13A1 CTNNB1 MPL INPP5E NF1 DKC1 TERT DLK1 SCN10A STS RPS29 PTEN FLCN LRBA ELANE GTF2E2 ATM PIK3CA GPR35 CYLD RAD51C CDKN1A WT1 DICER1 PIK3CA TERC PIK3CA SLC25A11 GNAS CEBPA ATP6V1B2 RET XPC EXT1 BRCA2 SH2B3 ERCC3 BRCA2 RTEL1 WASHC5 ERCC2 AKT1 KCNAB2 CYLD STK4 POLH ERCC5 CDH1 CEL XIAP MSR1 TP53 TET2 DHH PRKAR1A

Protein Mutations 81

C10D C377T C677T C797S D816V D835V D842V E10A E17K E542K E545K F1174L F11N F31I G12C G12D G12V G13D G156A G20210A G719A G719C H1047R H1112L H1112Y H1124D I638F K27M K652E L1213V L239R 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 S768R T1010I T1191I T315I T790M V1110L V1206L V1238I V411L V57I V600D V600E V600K V600M V600R V617F V941L Y1248C Y1248D Y1248H Y1253D Y220C Y842C

SNP 9

rs1045642 rs11615 rs12459419 rs13181 rs1695 rs25487 rs34489327 rs34743033 rs619824