SNPMiner Trials by Shray Alag


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Report for Mutation S1009A

Developed by Shray Alag, 2020.
SNP Clinical Trial Gene

There are 2 clinical trials

Clinical Trials


1 Road to Discovery for Combination Probiotic BB-12 With LGG (Different Doses) in Treating Autism Spectrum Disorder Disorders

This protocol is a blinded randomized controlled study of the effects of BB-12 with LGG at different doses in 70 healthy children with autism spectrum disorders at lower and higher doses over an 56-day period and a 28- day observation period. The study is being conducted in order to assess safety and tolerability of the probiotic (BB-12 with LGG) at 2 different doses of BB-12 with LGG. Identifying effects on behaviors in healthy children with ASD using SRS-2 and ABC, GI symptoms using GI symptom severity index, and relevant biomarkers of inflammation, microbiota, and metabolites. Primary testing and procedures will be conducted at the University of Texas Health Science Center at Houston and Memorial Hermann. Biomarker identification includes Integrative analysis of plasma metabolome and stool microbiota will be conducted with the collaboration of Dr. Ruth Ann Luna and Dr. Jim Versalovic at Alkek Center for Metagenomics and Microbiome Research, Department of Molecular Virology & Microbiology of Baylor College of Medicine.

NCT03514784 Autism Spectrum Disorder Gastrointestinal Symptoms Drug: BB-12 with LGG (Higher Dose) Drug: Placebo Drug: BB-12 with LGG (Lower Dose)
MeSH:Disease Autistic Disorder Autism Spectrum Disorde Autism Spectrum Disorder Child Development Disorders, Pervasive
HPO:Autism Autistic behavior

GI symptoms will be measured by the GI Severity Index.. Effects of BB-12+LGG at different doses on gut inflammation (S1009A). --- S1009A ---

Primary Outcomes

Description: Adverse events (Safety) will be measured by case report form (survey) that are related to BB-12 with LGG (health-promoting bacteria) or placebo treatment. The symptom grade will detail the severity of adverse events.

Measure: Effects of BB-12+LGG at different doses on adverse events (safety)

Time: 84 days

Secondary Outcomes

Description: Psychological/Behavioral change in irritability and related maladaptive behaviors associated with ASD will be measured by the Aberrant Behavior Checklist (ABC) pre and post treatment

Measure: Effects of BB-12+LGG at different doses on irritability and maladaptive behaviors with Aberrant Behavior Checklist (ABC)

Time: Days 1, 21, 56 and 84

Description: Psychological/Behavioral change in irritability and related maladaptive behaviors associated with ASD will be measured by the and the Social Responsiveness Scale-2 (SRS-2) pre and post treatment.

Measure: Effects of BB-12+LGG at different doses on irritability and maladaptive behaviors measured with the Social Responsiveness Scale-2

Time: Days 1, 21, 56 and 84

Other Outcomes

Description: GI symptoms will be measured by the GI Severity Index.

Measure: Effects of BB-12+LGG at different doses on GI symptoms as measured by GI Symptom Severity Index

Time: Days 1, 21, 56 and 84

Description: Plasma S100A9 will indicate GI and systemic levels of inflammation. S100A9 is a damage-associated molecular pattern molecule (DAMP) released by granulocytes, which is reportedly elevated 2-fold in plasma of children with ASD.

Measure: Effects of BB-12+LGG at different doses on gut inflammation (S1009A)

Time: Days 1, 56 and 84

Description: Biological change in fecal calprotectin levels. FC is a highly accurate fecal marker of inflammation.

Measure: Effects of BB-12+LGG at different doses on gut inflammation (Fecal Calprotectin)

Time: Days 1, 56 and 84

Description: Plasma zonulin, a marker for intestinal permeability ("leaky gut"), which is often associated with inflammation.

Measure: Effects of BB-12+LGG at different doses on gut inflammation (Plasma Zonulin)

Time: Days 1, 56 and 84

Description: IL-8 can be an indicator of gut inflammation; it released from the intestinal epithelial cells during inflammation.

Measure: Effects of BB-12+LGG at different doses on gut inflammation (IL-8)

Time: Days 1, 56 and 84

Description: Using 16S rDNA analysis, this will determine microbial alpha and beta diversity and distribution of the major taxa before and after probiotic treatment.

Measure: Effects of BB-12+LGG at different doses on fecal microbial community

Time: Days 1, 56 and 84

Description: This will determine levels of metabolic markers which are reported to be abnormal in autism: fecal amino acids, ammonia, short chain fatty acids (SCFA), and phenols.

Measure: Effects of BB-12+LGG at different doses on metabolites

Time: Days 1, 56 and 84

2 Incidence, Clinical Characteristics and Evaluation of Prognostic and Diagnostic Markers of Interstitial Pneumonia With Autoimmune Features (IPAF) - a Multicenter Prospective Study

Interstitial pneumonia with autoimmune features (IPAF) was defined in 2015 by the Working Group of the European Respiratory Society (ERS) and the American Thoracic Society (ATS) as interstitial pneumonia with some clinical and/or serological features suggesting presence of an underlying autoimmune disorder. However, ofiicial criteria for diagnosis of an autoimmune disease are not met. Aims of the study: 1. Determine the incindence of IPAF in comparison with interstitial lung diseases (ILDs) and classic autoimmune diseases (ADs) in polish pulmonological centers. 2. Clinical, serological, functional and radiological and histopathological characteristics of IPAF patients. 3. Analysis of diagnostic strategies towards specific IPAF subgroups. 4. Characterictics of potencial diagnostic, predictive and prognostic features of IPAF. 5. Prospective assessment of IPAF patients in the courseof 5 years in order to determine stability of the diagnosis and potential progression to other diseases, e.g. ADs.

NCT03870828 Interstitial Lung Disease Interstitial Pneumonia Interstitial Fibrosis Autoimmune Diseases Diagnostic Test: Bronchoalveolar lavage and taking bronchial mucosa samples Diagnostic Test: 6minute walk test Diagnostic Test: Arterial blood gas Procedure: Blood drawing
MeSH:Pneumonia Lung Diseases Lung Diseases, Interstitial Autoimmune Diseases
HPO:Abnormal lung morphology Autoimmunity Interstitial pneumonitis Interstitial pulmonary abnormality Pneumonia

Samples will be checked for concentration of S1009A protein, chemokine (C-C motif) ligand 2 and chitotrisidase 1 (CHIT 1). --- S1009A ---

Primary Outcomes

Description: It is still unclear whether there are diagnostic markers specific for IPAF or whether there is a significant difference in concentration of fibrosis biomarkers in IPAF, CTD-ILD and ILD groups. Both blood and BAL biomarkers will be taken under consideration, they include chemokine C-C motif ligand 18 (CXCL18), Surfactant Protein A- (SP-A), Surfactant Protein D (SP-D), Krebs von den Lungen-6 protein (KL-6) and chitotrisidase 1 (CHIT1).

Measure: Identification of IPAF diagnostic markers

Time: 10.2019-10.2020


HPO Nodes


HP:0000729: Autistic behavior
Genes 557
SNX14 PPM1D NLGN4X PIGY CAMTA1 TMEM231 SLC6A8 LIMK1 SOX3 CHD2 GJA5 CLCN4 MICOS13 LMAN2L TSC2 STS KCNAB2 SLC13A5 ARID1B SCN8A ND2 NLGN4X TCF4 NUS1 CLP1 ELN CNKSR2 SCN1A DEPDC5 SLC1A2 PWAR1 NLGN3 GABRG2 ATRX ADSL MED13L UCHL1 CHD2 TMEM138 GNAQ ADGRV1 RAB39B TSC1 DPYD ALDH18A1 SCN8A ARHGEF6 TBX1 SYNJ1 CDKL5 DYRK1A WWOX CHRNA7 TRAK1 SH2B1 NDUFS3 NDUFV2 IREB2 WDR26 EP300 ARX SPECC1L IL1RAPL1 DLG4 SHANK3 CACNA1C GABRA2 NDUFB11 EGF SLC25A22 ZC3H14 CLIP1 MTOR USP7 PIGQ GATAD2B BCOR CTCF MECP2 CUX2 TIMMDC1 MAPT NDUFAF8 NDUFB10 CACNA1B ANK3 C12ORF4 AFF2 NTNG2 RAD21 MCTP2 DDX3X NALCN ARVCF FBXO31 FLCN VPS13C RPS6KA3 MBOAT7 MED25 MID2 GABRG2 RERE KDM6B NDN TBR1 STS CUX2 NDUFS6 FOXRED1 MBOAT7 TRAPPC9 SKI SDHC HNRNPH2 TBR1 MED13 TAF1 NDUFAF4 WFS1 MED23 EXT2 TSPAN7 TBX2 IL1RAPL1 JAM2 TMEM216 SRP54 NEXMIF SCN1B ASXL3 EEF1A2 MAGEL2 KCNB1 SMC1A GTF2IRD1 UFD1 STAG1 NDUFS8 NDUFAF3 SNORD115-1 PIGV TMEM126B MED12 TBC1D23 CACNA1A GAMT SH2B1 RARS1 RFC2 DMXL2 GABRG2 SLC9A6 NTRK2 PPP2R5D GRN CC2D2A MEIS2 NDUFAF3 FOXP1 EP300 CLTC IQSEC2 ALG13 FRMPD4 ANKRD11 EXTL3 SIN3A SNRPN CACNA2D2 FGFR1 CLIP2 GRIA3 COMT NECAP1 HESX1 HCN1 SZT2 OPHN1 PIGP NHS JMJD1C TCF20 GRIA3 AARS1 FRRS1L UBA5 NDUFS2 TMLHE NDUFV1 PRSS12 PCGF2 NLGN3 KDM5B MED13L DMPK AUTS2 HIRA CDKL5 AP3B2 IQSEC2 CARS2 SYT1 YWHAG PGAP1 SRY STAG2 NAA10 CREBBP OTUD6B CHD2 TRRAP GNAO1 MAN1B1 RAB11B TM4SF20 PRODH UGP2 SEC23B RSRC1 ASH1L PARS2 ZNF41 ST3GAL3 IQSEC1 CXORF56 RERE EHMT1 AKT1 PCDH19 CNNM2 KCNA2 GABRD ZNF711 ALMS1 SYNGAP1 DEAF1 NDUFAF2 SYP SCN9A POMT1 GJA8 GDI1 KCNA1 SETD5 SLC9A7 PCDH19 CDKL5 TBX1 HECW2 TUSC3 NDUFB3 POLA1 PWRN1 USP7 KMT2A AIMP1 AP1S2 PTEN SATB2 ST3GAL3 FGF12 RPL10 IQSEC2 DHDDS GPHN CLCN4 PDE4D AHDC1 EDC3 BCKDK SCN2A SLC35C1 HDAC4 CRBN SEC24C TCF4 NEUROD2 PAH HIVEP2 MECP2 IPW ARFGEF2 KCNA2 HCN1 SLC25A12 GATM NR2F1 SCN2A SON SYNGAP1 MED12 HDAC8 PGAP2 NDUFS7 SCN1B MEIS2 SDHD C9ORF72 DNM1 RSPRY1 SHANK3 PIK3CA DHCR7 NDUFAF5 PTCHD1 TMEM237 SCN3A STXBP1 CHD1 CRADD SIM1 ACTL6B FTSJ1 MAPK8IP3 CDH15 ALG11 KMT5B POLA1 UPF3B LINS1 SMG9 ND3 HERC1 GRIN1 LHX1 PIGL ATP6V1A SETD2 SYNJ1 NIPBL TUBB3 HCFC1 KCNT1 PRDM16 VAMP2 MEF2C NEUROD2 ATP1A3 FTSJ1 DYM SNCA TBCK MEF2C SCN9A CXORF56 AUTS2 INTS1 RREB1 SLC45A1 SEMA3E ADNP TSC2 NTRK2 HNF1B PODXL NPAP1 CHD7 SNX14 SCN2A NAGA RSPRY1 BCORL1 TCF12 SMC3 SLC25A1 ACOX1 AGTPBP1 NDUFS1 PIGP GABRA1 CASK CTNNB1 LRRK2 RERE YY1 PRKAR1A DCPS NRXN1 TAF1 CHD8 PSMD12 WFS1 ACADL PIGC MECP2 CNKSR2 AP2M1 SARS1 NAA10 PARK7 CC2D1A HTRA2 BAZ1B PROKR2 KMT2C ND1 CYFIP2 NDUFS4 UBE3A TREM2 NDP TRIM8 SOX2 MECP2 C12ORF4 FOXP2 HERC2 TLK2 AP3B2 GP1BB ARX REV3L UBTF NONO EZR STXBP1 VCP ZNF423 NDUFAF4 NUS1 ADNP MKRN3-AS1 MSTO1 PTCHD1 ACSL4 NSUN2 TNIK PINK1 TET3 SLC6A8 KLLN GRIN2D DNM1 PLXND1 CLCN4 CDK8 ZIC1 GRIK2 GTF2I IFNG EXT2 SLC6A1 USP27X FMN2 ALDH5A1 DHCR7 THOC2 PDE4D RORA POGZ NAGA COG5 ZBTB20 FMR1 NDUFA6 SH2B1 EHMT1 PIGO FMR1 RPS23 HCN1 ARV1 ALG13 AGTR2 PIGL PACS2 PUF60 SLC35A3 NDUFS4 FOXG1 HERC2 PAK3 SQSTM1 TWNK CEP290 STXBP1 MKRN3 NDUFA1 TBX1 TBC1D24 NDUFA11 SYN1 CNTNAP2 PRKN SIM1 SETD5 OTUD6B NEXMIF FRMPD4 PACS1 DPYD ARNT2 PNKP B3GALNT2 NDST1 SNORD116-1 DOCK7 NDUFAF1 PPP3CA DLG3 GFM1 GABRB2 PPP2CA PDE4D CNTNAP2 HNMT TSC1 TRIO KDM5C SIK1 METTL23 WASHC4 STX1B TBL2 OTX2 RNF135 SDHB CTCF ZFPM2 PIGW DMD TMEM106B SNRPN SLC35A3 GABRD DEAF1 PSEN1 GABRB3 USF3 SCN1A NDUFB9 NDUFA13 GABRA5 CHMP2B MAOA NAA15 TECR SCN1A SMAD4 MAN1B1 MAPK10 UBA5 USP9X RAI1 NFIB PTEN KPTN PGAP3 PIGG SCN1B SPATA5 ALG13 PUF60 ZNF81 DNAJC6 NUBPL
Protein Mutations 1
S1009A
SNP 1
rs6971
HP:0002088: Abnormal lung morphology
Genes 1242
CCDC39 KMT2D FGFR3 GLI3 PRSS1 RAG1 DSG1 ELP1 TSC2 IL17F NEK9 BLNK BACH2 ARHGAP31 SGSH ARID1B PTEN STK11 STAT3 SPINK1 CD19 DNAH1 AICDA RRAS2 MEFV CASP10 CTLA4 PDGFRA GATA6 SFTPC FOXN1 GPR35 MED25 DYNC2LI1 RAG2 CBL STAT3 TTC37 ATM LTBP3 STN1 RSPH3 GLA WDR35 REN LAT KRAS CCR1 TYK2 BGN NR5A1 CCR6 TTC7A GPC3 LGI4 IL6 GAS8 DGCR8 COLQ TCF4 COL11A2 RUNX1 BCOR ORC6 DCLRE1C SERPINA1 SLC7A7 HRAS TBX1 GBA RNF113A ICOS SETBP1 CFI IRF2BP2 MYBPC3 CEP57 CHST14 CHRND CEP120 ESS2 BMP15 HPS4 BCOR IFT43 GBA BCL2 MRAS DICER1 MECP2 WRN GLB1 CSF2RB SELENON CHRNG BCOR INPPL1 CD3G ACADVL PAX3 SFTPC NSMCE3 AGA CCDC65 POU6F2 HGSNAT C4A SFTPB NFIX BUB3 MARS1 GREB1L SLC26A2 EXOSC9 FCGR2A DYNC2I1 ABCA12 TRIP11 DGCR6 MST1 DSE NCF4 FGFR1 ARSB LYST RAG1 TPP2 RAG2 PHGDH EDNRB SCNN1A EVC2 ITCH DICER1 WDR19 WNT4 SFTPA2 WT1 IGHM DNAAF4 CRTAP OCRL TP53 CFB TNNI3 TINF2 DCLRE1C MAGEL2 ATP11A LTBP4 TAF1 SCNN1B GTF2IRD1 IFT80 UFD1 MUC5B NUP107 BRAF FAS SNORD115-1 IL2RG MYH3 GPKOW RFXANK ICOS CEP57 LPIN2 TAP1 CD3D IRF5 FOXJ1 AGRN KITLG PIK3R1 CHRNG WIPF1 GPC4 CTLA4 CYP2A6 RPGR CORO1A ZMPSTE24 EP300 JAGN1 LFNG TGFB1 CD3E DNAL1 EXTL3 NCF1 SNRPN CLIP2 COMT SFTPC STAT4 HLA-DRB1 WAS DOK7 RMRP RSPH9 HLA-DRB1 IL23R DIS3L2 ERCC3 RAB27A POLR3H ERAP1 FOXP1 ITGA3 CFH PCGF2 ATP6V0A2 DNMT3B NOTCH1 BICC1 HIRA DKC1 LEP BCR TGFBR2 AKT1 ATP5F1A RNF125 FBN1 TGM1 CCDC40 NEK10 TGFBR1 RAC1 CREBBP TMEM94 ELN DNAI2 PLG UGP2 COL6A1 SLC25A1 DYNC2I2 IGLL1 IRAK1 CHRM3 SOS1 MYH7 COG6 CD8A STX1A GSN DNAJB13 PRKN EDARADD TERT NSD2 HLA-B CYTB WNT3 LEPR MKS1 IL2RB ZMPSTE24 PARN GRIP1 TRPV3 MEFV GATA4 CHAMP1 C11ORF95 DNAJB13 FOXP3 RAF1 DYNC2H1 BTK RFXANK MYH3 SMARCE1 DGCR2 ALPL SLC18A3 NR2F2 NEK1 STRA6 NKX2-1 TERC CAV1 NAA10 TGFBR2 PWRN1 RYR1 AGA CR2 TERC PIGN CCNO PKD1L1 RPL10 COL5A2 BLM H19 ABL1 CFTR RIT1 NCF1 CR2 IL2RA PSMC3IP ARID2 SLC7A7 SLC35C1 TIMM8A CDC45 NFKB2 CCDC114 TPM3 SCNN1B ADA LRRC56 HLA-DRB1 PEPD KATNIP LYST GRHL3 TAPT1 NBN GDF1 PRKCD CTC1 RCBTB1 PMM2 RET COL2A1 SMAD3 POLR3A LIPN BMPR2 SCNN1B SDR9C7 ASAH1 DNAAF6 CRELD1 OSTM1 RNU4ATAC COL13A1 DHCR7 GPC6 MGP MCIDAS IL17RC PSAP NAB2 KEAP1 TSC1 CITED2 SLC1A4 NGLY1 PPP1CB MANBA FGF20 A2ML1 MITF MAP3K8 ALB SMARCD1 HES7 POLA1 ERBB2 ALMS1 GUSB SMN1 SLCO2A1 CD79B CFAP221 VHL FGFR3 CYP4F22 IGLL1 STK36 TP53 HSPG2 PLOD1 DSP GMNN NHP2 COL11A2 OFD1 TNFRSF11A ARHGAP31 MALT1 CSF2RA COG4 RREB1 SCNN1A CD40LG NME8 SELENON NPHP3 LMNA CFTR CFAP298 SMPD1 FAT4 BTNL2 ALG12 IL21 BCL10 PRKDC TNFRSF13C HLA-DRB1 FOXE1 NXN BLM ERCC6 RSPH9 TBX5 LIG4 TBCE GALNS ACTA2 SLC12A6 SOX10 ZBTB16 FBLN5 SMAD4 NAGLU HELLS CTSC PRKG1 RASGRP1 CRELD1 ADGRG6 DYNC2I1 TINF2 SMARCB1 SP110 RSPH1 CCDC39 ARMC4 SMPD1 LAMTOR2 ABCA3 NHLRC2 FAS IKBKB MBTPS2 PTPRC NFKB2 MMP21 TCIRG1 MS4A1 MTHFD1 RYR1 ADA DNAI1 DVL3 PLCG2 PTPN22 BCL11B BAZ1B RTEL1 CALCRL CCBE1 SFTPB PTH1R DNAH11 CTLA4 DCLRE1C ASXL1 SAMD9L WT1 PIK3CA TREX1 GBA CFTR TRIM28 GP1BB TGFB1 CLPB ICOS FLNA GFI1 ARID1B IRAK4 DNAAF2 SFTPA2 JAG1 EGFR IGH KIAA0586 RIT1 PCNT DNAH5 NFKB1 GBA STAT1 TET2 RAG2 HLA-DRB1 CCDC151 MFAP5 EPG5 SLC25A22 DYNC2I2 HYLS1 XIAP MUSK SLC35A1 GNPTAB MS4A1 LOX LEPR CRKL RAG1 ZMYND10 COL6A2 PIGL ATM MIF IFT81 STAT4 LMOD3 GAS2L2 CDCA7 MEFV PRPS1 TGFB3 ERF KLHL40 SLC34A2 EPHB4 RFX5 KAT6B HYDIN RELB RLIM ADAMTS3 MEFV PUF60 KRAS SCN9A BTNL2 FOXC2 SH2D1A LEP PGM3 NOS1 ERCC2 TBX1 TBC1D24 CHD7 DLL3 POLE ALG9 LRRC6 TNFRSF13B CD28 CFTR CTRC OFD1 RANBP2 CHRNA1 IL7R MYL2 LZTR1 TRAIP CCDC22 IGH CCDC40 IL2RG SNORD116-1 MYOD1 ALOX12B NFKB1 KIF11 TINF2 GLI3 TRPS1 SGCG CCN2 PARN EOGT CHAT TSC1 SERPINH1 CDT1 CTCF UBB FOXF1 PRKAR1A PIK3CD BAP1 FBN1 DHCR24 TTC25 CARD11 SERPINF2 HELLPAR CXCR4 DYNC2I2 MASP2 IL6ST TBC1D24 GATA6 TBCD SMN1 RSPH3 COG4 MARS1 CSPP1 ITGA8 KIF20A PERP MUSK HLA-DRB1 HYDIN TGFBR1 CASP8 SCNN1G CD46 TNFSF12 RRAS RHOH SPINK5 MAT2A CCR6 ABCA3 LACC1 PRKCD FCGR2A CCN2 FAT4 KDM6A IDUA DNAH11 RSPH1 DOCK8 DYNC2LI1 NKX2-1 CCNO SPAG1 LIMK1 MPLKIP MINPP1 BIRC3 FBN1 FGF20 TERT IKBKB CD79A AFF4 FSHR STAT5B TNFRSF13C MYO5A NOTCH3 ELN LAMTOR2 IL12A-AS1 NADK2 RELA DPM2 PWAR1 MESP2 ELANE CD81 PNP PRSS2 ZAP70 WRAP53 DNAAF1 CHRNG MYRF TSC1 CLCA4 HABP2 DNAH9 FAM13A BTK TERT LRBA RSPH4A NSDHL SOX11 RYR1 TNNT2 KLRC4 SMARCD2 PIEZO2 SLC5A7 EVC KIF1A ACVRL1 ROR2 NCF4 IFT172 TNFRSF13B HLA-B CCDC65 FADD NOD2 CTLA4 FADD CACNA1C ITGA8 CYBC1 MGP VPS33A MYD88 COL13A1 DOCK6 MYSM1 DNAAF4 FLI1 FLNB MAN2B1 FRAS1 HLA-DQA1 SCNN1A IL21R IRF5 FASLG FANCB FAM20C COL6A3 KIAA0319L MCTP2 AP3D1 AGGF1 PIGN EMG1 ARVCF NUMA1 DLL4 RAG2 KIAA0586 NFKB2 TFRC NDN MAPK1 LAMA2 AGTR1 DONSON FANCB TGFB1 INPPL1 TNFSF11 XIAP RBPJ SLC18A3 UNG FLCN MKKS TRIM28 DNAAF6 SCN10A B3GLCT IL2RG CCDC103 CLCN7 PTPN22 GNPTAB SPP1 CXCR4 PLEC HLA-DPB1 RFXAP SCN11A NPM1 APOE LMNA PEX1 CARD11 USB1 CSPP1 ELN SOS2 CCDC103 MYH11 HLA-DQB1 TBC1D23 TTC21B DLL3 EFEMP2 MYO9A PORCN FLCN SCNN1G RBM10 CD79A IL12A RIPK4 RFC2 SLC22A18 FCGR2B RSPH4A IL2RG ACTA1 REST SRP54 RAF1 SNAP25 TSC1 CAV1 IRF8 CCNQ NCF2 GAS8 SMAD3 ZNHIT3 DHCR24 FOXP1 ZBTB24 TNFRSF13B PTPN11 NABP1 TERC B2M ELN SCNN1G LRRC56 FUCA1 SKIV2L JMJD1C PEX13 VANGL1 GATA4 CFI PDGFRB STAT6 TNFRSF13C FLNA TRIP13 ZBTB24 CEP55 NELFA NECTIN1 EPM2A TBL1XR1 CCND1 JAK3 NAA10 MYPN ZFPM2 DDR2 LMNA NME8 ECM1 ITCH CD3E NFKBIA DICER1 BUB1B SERPINF2 PRTN3 DNAI1 ZEB2 CYBB IDUA EPG5 TCIRG1 HOXD13 SNAI2 SLC35A1 CR2 SOX4 GAA TARS1 ELP1 ALMS1 ETFDH BMP2 ELN PLVAP SULT2B1 RAG2 TERT SLC25A24 SMPD1 TSC2 WDR19 GLE1 GATA6 RNU4ATAC PLP1 ARID1A ATP6V1E1 CFAP410 TCTN3 BRAF FCN3 STRA6 IL17RA PIEZO1 BNC1 PARN SCNN1G TBX1 CCBE1 EFEMP2 SLC52A3 BUB1 DCLRE1C CIITA MYLK LRRC6 CFAP298 ASCC1 DNAAF5 WNT4 LCK UMPS RNF168 USP9X CD3D INTU RUNX2 NGLY1 SPECC1L SEC24C GLDN FAS FLT4 IPW CCDC151 MRPS22 SYT2 SPAG1 LAMB2 GDF1 TERT DNAAF3 FLNC DNAAF1 SON PRKAG2 DPP9 STAT1 TECPR2 GPC3 RAG1 TNFRSF1B NUP88 AARS2 CEP120 RSPO2 RIPPLY2 LIFR MYSM1 GBA CYBA CBL TERT NPHP3 TRIP4 PHGDH VAMP1 NOTCH2 FASLG SMARCC2 G6PC3 KAT6B PIK3R1 CD81 CHST14 NOP10 IFT80 SHROOM4 SCNN1A CD19 SLC26A2 TGFB2 WDR35 SLC11A1 TTC25 RIPK1 UNC119 IGHM SAMD9 GTF2H5 GLI3 PML SLC29A3 RPGR SCNN1B ACE NKX2-5 DNAAF5 SCARB2 HFE FBLN5 RAG1 NEB DYNC2I1 GNS NFE2L2 RTEL1 CD19 DCTN4 FRAS1 ADNP IFT140 TGFB2 NPAP1 TRIP13 MESP2 CFTR ADAMTS2 DOCK8 RAG1 BRCA2 P4HTM MAN2B1 SLC26A2 CFAP300 RAB3GAP2 PAX6 JAK3 GTF2E2 NRAS SH3KBP1 RSPO2 ZNF341 BCL6 RFXAP SPEF2 MSN MCM4 CCND1 FARSB FUZ NIPBL BMPR2 STAT3 ACTA1 ZMYND10 IL7R SLC2A10 COQ7 NIPAL4 MLXIPL COL3A1 FREM2 ALDH18A1 LETM1 NKX2-5 TNFRSF1A MBTPS2 IKZF1 PIGN UBAC2 DNAI2 FBLN5 ACP5 ZAP70 RARA TPM2 NEK10 SFTPA1 ARMC4 NRAS AGT RPS15A CARMIL2 UBE2A EGFR SLC2A10 NAA10 CASP8 DNMT3B TAPBP RTEL1 EWSR1 PTEN ABCA12 SNX10 CSF2RA MESP2 SMARCA4 CBL AK2 KCNJ6 FIP1L1 HACD1 ETFA PNP ITGA7 ALOXE3 HLA-DPA1 HERC2 NEK8 SLC46A1 SMO LRRC8A IER3IP1 RARB TSC2 TLR4 TRAF3IP2 HPS6 ADA TRIP4 FAM111B FMO3 DPF2 RAPSN LBR MKRN3-AS1 VPS33A NOTCH2 DYNC2H1 IRF1 WNT3 DRC1 COPA PKHD1 ETFB CRLF1 ENG ELANE PANK2 GAS2L2 GTF2I CD247 PRKAR1A KLHL41 BMPER WAS PIGT RASA2 DNASE1L3 DHCR7 THOC2 TK2 IL10 IFNGR1 RASGRP1 CIITA NPM1 SLC26A2 RNF168 INHBA SPIDR EHMT1 CDC42 RB1 NHLRC1 TBX6 STAT3 MUC5B VPS13A NOTCH3 TMEM260 ASAH1 DNAH5 RPL10 FCGR3A WT1 FLCN INVS GLI1 COL5A1 TTC12 ITPR1 PTPN22 FLCN RARB CYBA GRIP1 IL17RA MKRN3 AFF4 SDCCAG8 IFIH1 CD79B GATA2 KAT6B TERC EIF2AK4 TAP2 HPS1 WASHC5 TRPV4 SERPINA1 SRSF2 PTPN11 CSF2RB STING1 NCF2 FSHR COL1A1 TBL2 ACTA1 CACNA1B PEPD SOX18 DNAAF3 DNAAF2 DNASE1 PPP2R1B WT1 DRC1 TCF3 CC2D2A CYBB PIK3R1 IL1RN NOP10 CCNQ TNFSF12 USP9X NHP2 LMNA NBN PYROXD1 IL7R CCDC114 HPGD BTK ELN PSAT1 BLNK CD55 GLE1 IDUA GATA6 USB1 SIK1 FLNA FLNB CLEC7A SMAD4 MAP3K20 KPTN RFX5 FOXE3 DKC1 COL2A1 POLA1 TRIP11 PGM3 GUSB AP3B1 COL3A1 SOX18 KRAS