SNPMiner Trials by Shray Alag


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Report for SNP rs7103572

Developed by Shray Alag, 2020.
SNP Clinical Trial Gene

There are 2 clinical trials

Clinical Trials


1 A Multi-site, Double-blind, Parallel Arm, Block Randomised, Placebo Controlled, Factorial Phase III Study of Opioids for Chronic Refractory Breathlessness in People With Chronic Obstructive Pulmonary Disease.

Breathlessness, the sensation of breathing discomfort, is a major problem in people with chronic obstructive pulmonary disease (COPD). Breathlessness that persists despite optimal management of the underlying disease(s) is said to be refractory. Preliminary evidence suggests that a small, regular dose of morphine helps to reduce safely the sensation of breathlessness. However, this research on morphine for breathlessness has not defined the best way to adjust the dose of the medication, or refined which people are most likely to have benefit, no response or side effects. This is a randomized, double-blind phase III trial in people with COPD and significant refractory breathlessness, which will explore several important questions: - Are regular, low dose opioids (morphine) at four possible doses over 3 weeks more effective than placebo medication (containing no active ingredient) at improving breathlessness? - Does the medication have any effect on daily activity, breathlessness, and quality of life? - What are the common side effects of this intervention? - Does the benefit from the drug outweigh the side effects it produces? - Are there specific characteristics of people who are more likely to receive benefit from sustained release morphine? Participants will be allocated to receive three weeks of morphine sulfate (and laxative, docusate with senna), or placebo (and placebo laxative). The dose of morphine may be increased each week for weeks two and three. All medicines will appear the same (blinded) and neither the doctor nor the participant will know which medication the participant is receiving. Participants will have a medical interview, physical examination to collect some general health information, and baseline measurements including; daily activity, symptoms, and quality of life. A small amount of blood may be required to check eligibility. Further blood samples may be taken at week 1 and 3 to enable testing on how individuals respond to opioids, further consent will be obtained for these samples. Data on benefits, side effects, and medical care will be collected during comprehensive weekly visits. Participants will also fill out a simple diary twice daily for weeks one to three of the study, and for one day each week during an optional 3 month extension stage. The outcome of this study may enable better management of symptoms and activity in people COPD with medicines that are shown to be effective and safe.

NCT02455362 Chronic Obstructive Pulmonary Disease Dyspnea Drug: Morphine sulfate Drug: Placebo
MeSH:Lung Diseases Lung Diseases, Obstructive Pulmonary Disease, Chronic Obstructive Dyspnea
HPO:Abnormal lung morphology Chronic obstructive pulmonary disease Dyspnea Obstructive lung disease Respiratory distress

From the baseline sample, the UGT2B7*2 and *28 polymorphisms, P-glycoprotein (ABCB1 5SNPs in a haplotype block), the 5-hydroxytryptamine type 3B (HTR3B) gene rs7103572, and mu opioid receptor (A118G) polymorphisms will be measured.

Primary Outcomes

Description: Rated on a 0-10 numerical rating scale (NRS) in a diary each evening. The primary endpoint is the difference between placebo, morphine sulfate 8 mg, or 16 mg after the first treatment week.

Measure: Change from baseline intensity of breathlessness over the previous 24 hours

Time: Week 1

Secondary Outcomes

Description: Rated on a 0-10 numerical rating scale (NRS) in a diary each evening.

Measure: Change from baseline unpleasantness of breathlessness over the previous 24 hours

Time: Week 3

Description: Rated on a 0-10 numerical rating scale (NRS) in a diary each morning.

Measure: Change from baseline intensity of breathlessness "right now"

Time: Week 3

Description: In addition to the NRS ratings, the intensity of breathlessness is rated on a 0-10 modified Borg scale in a evening diary.

Measure: Change from baseline in the intensity of breathlessness

Time: Week 1

Description: Collected in a diary in the evening, including of any rescue medication used.

Measure: Current medication use and compliance

Time: At study end for up to 15 weeks.

Description: Collected in a diary in the evening.

Measure: Number of participants with adverse events

Time: At study end for up to 15 weeks.

Description: Measured during two days at baseline and during at least five days of treatment week three.

Measure: Change from baseline physical activity using an accelerometer

Time: Week 3

Description: Measured using the revised Edmonton Symptoms Assessment Scale (ESAS-r).

Measure: Change from baseline in concurrent symptoms

Time: Week 1

Description: Measures the functional impact of breathlessness.

Measure: The modified Medical Research Council (mMRC) breathlessness scale

Time: At study end for up to 15 weeks.

Description: To explore whether longer term morphine treatment is associated with decreased levels of testosterone.

Measure: Change from baseline serum testosterone level

Time: At the end of the 3 month follow-up stage, after up to 15 weeks.

Description: From the baseline sample, the UGT2B7*2 and *28 polymorphisms, P-glycoprotein (ABCB1 5SNPs in a haplotype block), the 5-hydroxytryptamine type 3B (HTR3B) gene rs7103572, and mu opioid receptor (A118G) polymorphisms will be measured. Interleukin 1ß, TNFalpha and Il-6 will be measured at baseline and at the end of the first treatment week.

Measure: Change from baseline pharmacogenomic opioid blood profile

Time: Week 1

Description: In a subset of 55 participants, blood parameters for morphine and its metabolites will be analysed (4 blood samples over 8 hours) at steady state of the treatment at the end of the week 1.

Measure: Pharmacodynamic/-kinetic blood samples

Time: Week 1

Description: Exhaled gas measured using a non-invasive capnometer.

Measure: Change from baseline end-tidal carbon dioxide

Time: Week 3

Description: Non-invasive measurement of the oxygen saturation, respiratory rate, and heart rate.

Measure: Change from baseline pulse oximetry

Time: Week 3

Description: Twenty (20) participants at the Sydney and Adelaide sites will be invited to undertake a simple, non-invasive home sleep study using the ResMed ApneaLink Plus device.

Measure: Change from baseline sleep quality

Time: The final night of week 3

Description: Rated on a 4 point Likert scale in a morning diary.

Measure: Change from baseline sleep quality

Time: During the study for up to 15 weeks.

Description: The questionnaires used are the Epworth Sleepiness Scale, Leeds Sleep Questionnaire, and the Karolinska Sleepiness Scale.

Measure: Change from baseline sleep quality and sleep-related problems

Time: Week 3

Description: Measure of the bowel function, during treatment with placebo / morphine sulfate 8 or 16 mg.

Measure: Change from baseline bowel function index

Time: Week 1

Description: Measured on the CRQ-SAS Dyspnoea sub-scale.

Measure: Change from baseline breathlessness-related quality of life

Time: Week 3

Description: Measured using the EQ-5D questionnaire.

Measure: Change from baseline health-related quality of life

Time: During the study for up to 15 weeks.

Description: Life-Space is a measure of where a person goes, the frequency of going there, and the dependency in getting there.

Measure: Change from baseline Life-space

Time: During the study for up to 15 weeks.

Description: A score of 0 to 100 (in increments of 10) is assigned to participants based on their ability to undertake a range of daily tasks. The score gives an indication of the participant condition in terms of physical ability.

Measure: Change from baseline Australian Karnofsky Performance Status

Time: During the study for up to 15 weeks.

Description: A 14-item questionnaire used to measure anxiety and/or depression.

Measure: Change from baseline Hospital Anxiety and Depression Scale

Time: Week 3

Description: Participant-rated seven point scale of the perception of their change, specifically their improvement since the commencement of the study.

Measure: Global Impression of Change

Time: During the study for up to 15 weeks.

Description: Participants will be asked for their preference to continue at study exit ('Is this a therapy which, on balance, you would continue to take for your breathlessness?')

Measure: Blinded patient preference to continue treatment

Time: At study end after up to 15 weeks.

Description: Data on all health care contacts including lenght of hospitalizations, emergency department visits, DRG codes, outpatient visits to general practitioner and community nurse, and date of death.

Measure: Health economy composite

Time: During the study for up to 15 weeks.

2 A Pragmatic, Phase III, Multi-site, Double-blind, Placebo Controlled, Parallel Arm, Dose Increment Randomised Trial of Regular, Low Dose Extended Release Morphine for Chronic Refractory Breathlessness

Breathlessness is an overwhelming symptom affecting tens of thousands of Australians every day. For many people, it persists even when all the underlying causes have been optimally managed (chronic breathlessness). In these circumstances, it often occurs at rest or with minimal exertion. Evidence from a number of clinical studies suggests that a small, regular dose of morphine helps to reduce safely the sensation of breathlessness. However, it is not well established which patients derive more benefit and what is the net clinical effect of this treatment (weighing benefits and harms). This is a phase III, multi-site, randomised, double-blind, placebo-controlled trial with patients with chronic obstructive pulmonary disease (COPD) and severe chronic breathlessness which will explore several important questions: - Are regular, low doses of morphine at four possible doses over 3 weeks more effective than placebo at improving breathlessness? - Does increasing the dose in people who already are experiencing some benefit provide even greater reduction in worst breathlessness? - Does the medication have any effect on daily activity and quality of life? - What are the common or serious side effects of this intervention? - Does the benefit from the medication outweigh the side effects it produces? - Are there specific characteristics of people who are more likely to receive benefit from extended release morphine? Participants will receive once daily extended release morphine (plus laxative, docusate with senna), or placebo (placebo laxative) in addition to their usual medication for up to 3 weeks at increasing doses. Participants will have a medical interview and physical examination to collect some general health information, and baseline measurements including; daily activity, symptoms, and quality of life. A small amount of blood may be required to check eligibility. Further blood samples may be taken at week 1 and 3 to enable testing on how individuals respond to opioids, further consent will be obtained for these samples. Data on benefits, side effects, and medical care will be collected during comprehensive weekly visits. Participants will also fill out a simple diary twice daily for weeks one to three of the study, and for one day each week during an optional 6 month extension stage. The outcome of this study may enable better management of symptoms and activity in people COPD with medicines that are shown to be effective and safe.

NCT02720822 Chronic Obstructive Pulmonary Disease Dyspnea Drug: Placebo Drug: Morphine Sulfate Drug: Plus laxative (Docusate with senna) Drug: Plus placebo laxative Device: FitBit charge HR (Accelerometer)
MeSH:Lung Diseases, Obstructive Pulmonary Disease, Chronic Obstructive Dyspnea
HPO:Chronic obstructive pulmonary disease Dyspnea Obstructive lung disease Respiratory distress

Pharmacogenetic opioid profile - Number of participants with 5-hydroxytryptamine type 3B (HTR3B) gene rs7103572 polymorphism.

The baseline blood samples will be analysed to detect the presence of 5-hydroxytryptamine type 3B (HTR3B) gene rs7103572 polymorphism.

Primary Outcomes

Description: Rated on a 0-10 numerical rating scale (NRS). Measured at baseline, Stage1-3 (daily diary) and Stage 4 (weekly diary). The primary endpoint is: The difference between morphine sulphate 8mg and placebo (end of week1) The difference of morphine sulphate 16 mg and placebo (end of week 1)

Measure: Change from baseline worst breathlessness intensity over the previous 24 hours

Time: Week 1

Description: Difference from the baseline in the number of steps per day measured using the Fitbit(Charge HR). Measured at baseline, end of week 1, and end of week 3. The primary endpoint is: The difference between morphine sulphate 8mg and placebo (end of week 1) The difference between morphine sulphate 16mg and placebo (end of week 1) Comparison between baseline and end of week 3

Measure: Change from the baseline in the number of steps per day

Time: Week 3

Secondary Outcomes

Description: Measured at baseline and at the weekly visit for the randomisation phase, and then at the study exit in order to assess the theoretical risk of opioids worsening respiratory failure. Stages 1-4.

Measure: Change from baseline end-tidal carbon dioxide

Time: Up to week 15

Description: Measured at baseline and at the weekly visit for the randomisation phase, and then at the study exit in order to assess the theoretical risk of opioids worsening respiratory failure. Concomitant use of oxygen will be recorded. Stages 1-4.

Measure: Change from baseline pulse oximetry

Time: Up to week 15

Description: Rated on a 0-10 numerical rating scale (NRS). Measured at baseline, weeks 1-3 (daily diary) and stage 4 (weekly diary).

Measure: Change from baseline intensity of breathlessness "average"

Time: Up to week 15

Description: Rated on a 0-10 numerical rating scale (NRS). Measured at baseline, weeks 1-3 (daily diary) and stage 4 (weekly diary).

Measure: Change from baseline distress from breathlessness over the previous 24 hours

Time: Up to week 15

Description: Chronic Respiratory Questionnaire - Dyspnoea and Mastery Subscales. Baseline and end of Weeks 1-3.

Measure: Change from baseline perceived-impact of breathlessness

Time: Up to week 3

Description: Rated on the Modified Medical Research Council Breathlessness Scale (mMRC). Measured at baseline and at the conclusion of the study.

Measure: Change from baseline functional impact of breathlessness

Time: Up to week 15

Description: Measured using the Fitbit(Charge HR). Assessed at baseline (2 days), weeks 1 and 3.

Measure: Change from baseline sleep minutes

Time: Week 3

Description: Measured using the Fitbit(Charge HR). Given in number of movements per night (e.g. rolling over). Assessed at baseline (2 days), weeks 1 and 3.

Measure: Change from baseline sleep activity

Time: Week 3

Description: Measured using the Fitbit(Charge HR). Difference from baseline in the number of active minutes per day. Assessed at baseline (2 days), weeks 1 and 3.

Measure: Change from baseline in activity levels

Time: Week 3

Description: Measured using the Fitbit(Charge HR). Difference from baseline number of calories spent per day. Assessed at baseline (2 days), weeks 1 and 3.

Measure: Change from baseline total energy expenditure

Time: Week 3

Description: Measured using Australian-modified Karnofsky Performance Status (AKPS). Baseline, Stage1, Stage2, Stage3 and Stage 4.

Measure: Change from baseline performance status

Time: Up to week 15

Description: Measured using Barthel Index. Baseline and Stage 4.

Measure: Change from baseline activities of daily living

Time: Up to week 15

Description: Rated on a 4 point Likert scale. Measured at baseline, weeks 1-3 (daily diary) and stage 4 (weekly diary).

Measure: Change from baseline in sleep quality

Time: Up to week 15

Description: Thirty (30) participants at the Sydney and Adelaide sites will be invited to undertake a simple, non-invasive home sleep study using the ResMed ApneaLink Plus device. Baseline and Stage3.

Measure: Change from baseline in objective sleep testing

Time: Week 3

Description: Up to ten (10) participants will also undergo two (baseline and Stage 1) in-laboratory overnight sleep studies in Sydney and Adelaide.

Measure: Change from baseline Polysomnography

Time: Week 3

Description: Twenty (20) participants in Adelaide and Sydney. Baseline and on day 2 and 7 of the first week in an office-based simulator - AusEd.

Measure: Change from baseline Driving ability

Time: Week 3 + 2 days

Description: The baseline blood samples will be analysed to detect the presence of UGT2B7*2 and *28 polymorphisms.

Measure: Pharmacogenetic opioid profile - Number of participants with UGT2B7*2 and *28 polymorphisms

Time: Baseline (1 day)

Description: The baseline blood samples will be analysed to detect the presence of P-glycoprotein polymorphism (ABCB1 5SNPs in a haplotype block)

Measure: Pharmacogenetic opioid profile - Number of participants with P-glycoprotein polymorphism (ABCB1 5SNPs in a haplotype block)

Time: Baseline (1 day)

Description: The baseline blood samples will be analysed to detect the presence of 5-hydroxytryptamine type 3B (HTR3B) gene rs7103572 polymorphism

Measure: Pharmacogenetic opioid profile - Number of participants with 5-hydroxytryptamine type 3B (HTR3B) gene rs7103572 polymorphism

Time: Baseline (1 day)

Description: The baseline blood samples will be analysed to detect the presence of Mu receptor (A118G) polymorphism

Measure: Pharmacogenetic opioid profile - Mu receptor (A118G) polymorphism

Time: Baseline (1 day)

Description: In a subset of 55 participants, morphine peak plasma concentrations will be analysed (4 blood samples over 8 hours) at steady state (end of week 1).

Measure: Pharmacokinetic (PK)/ Pharmacodynamic (PD) opioid profile: Morphine Peak Plasma Concentration [Cmax]

Time: Week 1

Description: In a subset of 55 participants, morphine AUC will be analysed (4 blood samples over 8 hours) at steady state (end of week 1).

Measure: Pharmacokinetic (PK)/ Pharmacodynamic (PD) opioid profile: Morphine Area Under the Curve (AUC)

Time: Week 1

Description: In a subset of 55 participants, M6G Peak Plasma Concentration will be analysed (4 blood samples over 8 hours) at steady state (end of week 1).

Measure: Pharmacokinetic (PK)/ Pharmacodynamic (PD) opioid profile: Morphine-6-glucuronide (M6G) Peak Plasma Concentration [Cmax]

Time: Week 1

Description: In a subset of 55 participants, M6G AUC will be analysed (4 blood samples over 8 hours) at steady state (end of week 1).

Measure: Pharmacokinetic (PK)/ Pharmacodynamic (PD) opioid profile: Morphine-6-glucuronide (M6G) Area Under the Curve (AUC)

Time: Week 1

Description: In a subset of 55 participants, M3G Peak Plasma Concentration will be analysed (4 blood samples over 8 hours) at steady state (end of week 1).

Measure: Pharmacokinetic (PK)/ Pharmacodynamic (PD) opioid profile: Morphine-3-glucuronide (M3G) Peak Plasma Concentration [Cmax]

Time: Week 1

Description: In a subset of 55 participants, M3G AUC will be analysed (4 blood samples over 8 hours) at steady state (end of week 1).

Measure: Pharmacokinetic (PK)/ Pharmacodynamic (PD) opioid profile: Morphine-3-glucuronide (M3G) Area Under the Curve (AUC)

Time: Week 1

Description: Baseline and study completion. To explore whether longer term morphine treatment is associated with decreased levels of testosterone.

Measure: Change from baseline serum testosterone level

Time: Week 15

Description: Rated on a Lickert Scale. Baseline, weeks 1-3 (daily diary), Stage 4 (weekly diary): Includes constipation, anxiety, appetite, nausea, vomiting, drowsiness, difficulty thinking clearly, problems passing urine, itch, other symptoms.

Measure: Adverse Effects

Time: Up to 15 weeks

Description: Measured using the Edmonton Symptoms Assessment Scale (ESAS)

Measure: Change from baseline in concurrent symptoms

Time: Up to 15 weeks

Description: Rated using the Hospital Anxiety and Depression Scale (HADS). At baseline, completion of randomization stage and study exit.

Measure: Change from the baseline anxiety and depression

Time: Up to Week 15

Description: Participant-rated 7 point scale of the perception of their change, specifically their improvement since the commencement of the study. Measured at the end of Stages 1-3 and conclusion.

Measure: Change in baseline global impression of change

Time: Up to 15 weeks

Description: Measured with EQ-5D-5L questionnaire. Baseline, Stages 1-3, Stage 4, conclusion.

Measure: Change from baseline health-related quality of life

Time: Up to 15 weeks

Description: Measured with the COPD Assessment Test (CAT) Baseline, Stages 1-3, Stage 4 and conclusion.

Measure: Change from baseline health-status in COPD

Time: Week 3

Description: Asked at the end of week 1 and at the conclusion/drop-out of the study. A 3-point Likert scale will be used.

Measure: Blinded-patient preference to continue the treatment [3-point Likert Scale]

Time: Up to week 15

Description: Scored using the Zarit Burden Interview (ZBI) 12 item short-form questionnaire. Baseline, end of weeks 1-3, stage 4.

Measure: Change from baseline caregiver Impact

Time: Up to week 15

Description: From randomisation to 28 days post treatment or death (whichever is the shorter period). Estimated based on all health-care contacts including length of hospitalizations, emergency department visits, DRG codes, community health visits, GP and community nurse visits, outpatient visits and date of death. These participant level data allow within trial modeling using bootstrapping methods of replicates for costs and consequences of alternative strategies, allowing for covariance between costs and effects. Incremental net monetary benefit and cost-effectiveness acceptability curves will be estimated at potential threshold values for an additional responder.

Measure: Economic Evaluation - Cost per responder

Time: Up to week 4

Description: Evaluation using the Subjective Opioid Withdrawal Scale (SOWS) for 3 consecutive days. After the completion of the study (Weeks 1-15).

Measure: Opioid Withdrawal

Time: Up to week 15 + 3 days


HPO Nodes


HP:0002088: Abnormal lung morphology
Genes 1217
GATA6 COL13A1 DNAI1 EPG5 CSPP1 ABCA12 IL2RG PORCN TGFB2 COL1A1 SOX11 IL17RC PEX1 SLC12A6 CSF2RA TCF4 NAA10 TCTN3 INSR GAS8 TTC37 SERPINF2 BRAF DOCK6 RBPJ NOD2 CLEC7A PSAP VPS33A CTRC ATM TGFB1 BCL10 BAP1 CCDC39 STN1 CD8A OCRL DNAH11 CHD7 TINF2 FOXP3 ERCC6 RANBP2 CR2 C11ORF95 PIEZO2 LACC1 DSE SETBP1 ZMPSTE24 CD3D MALT1 ADGRG6 PLP1 TINF2 SPAG1 TAP2 AGA ERAP1 IL7R CFI RUNX2 LAT DNAAF4 MAP3K8 IL17RA CHST14 ADA DNASE1L3 DNAI2 DNAH5 FOXP1 TBX1 PIEZO1 DNAH1 NKX2-5 ELP1 DCLRE1C MTHFD1 LOX TSC2 FGFR3 SOS1 IRF8 CHAMP1 EFEMP2 WDR35 CCDC39 PIK3CD HABP2 SDCCAG8 PRKN CD81 TNFSF12 ARMC4 NCF2 SMN1 RMRP TBC1D23 CHRNA1 DSG1 GDF1 NKX2-1 POLR3H SMPD1 WDR60 ATP5F1A UBE2A GLE1 COL2A1 FLCN EIF2AK4 ACTA1 RPL10 IPW MYO5A MEFV NHP2 RYR1 PIGN DGCR2 NFKB1 CCBE1 DNAH11 FCGR2B SLC26A2 FBLN5 RAG1 SOX4 PTEN PTPN11 ARMC4 DCLRE1C PSAT1 STAT3 SERPINF2 STAT3 STAT3 PARN SEC24C TSC1 RAB3GAP2 GLI3 C1R GBA ALB ADAMTS3 PIGN UMPS HLA-DRB1 LEPR SLCO2A1 BLM ACVRL1 THOC2 MMP21 CARD11 CFTR USP9X DNMT3B COL6A1 TNFSF11 FAM20C RYR1 PPP2R1B PEPD HLA-DPA1 MUSK LMNA GATA6 FBLN5 LMOD3 DIS3L2 SNORD115-1 SCNN1G GNPTAB COL5A2 KIAA0319L CXCR4 IDUA CCR6 BMP2 SNX10 MED25 CFAP410 BCOR LTBP4 STRA6 TERT EDARADD POLE FOXF1 STAT1 LIPN DRC1 VPS13A NFKB1 STK36 PTPN11 CCDC22 SLC1A4 SULT2B1 PPP1CB TAP1 IFT80 CFAP298 ZBTB24 GATA4 PIK3R1 DNAH5 GLI1 TGFB3 HPS1 DNASE1 WDR19 CEP55 ELN SMPD1 ICOS DCTN4 NUMA1 DKC1 LIG4 SMAD4 FBLN5 ACADVL PRPS1 BCL6 GPC3 AGRN RIPK1 FMO3 SNAP25 CSF2RA MUSK MAGEL2 HGSNAT STAT5B DNAAF5 GBA TTC25 CEP57 RAB27A FGF20 SLC2A10 PMM2 DGCR6 RREB1 ASAH1 CCR6 LFNG SLC35A1 IKBKB PGM3 CCDC40 BICC1 EPHB4 PEPD NSDHL MCM4 COG4 SPINK5 HLA-DRB1 WRN BMP15 KCNJ6 GP1BB GLI3 STING1 GPC3 NABP1 RARB ARHGAP31 MAPK1 ERBB2 B2M POLA1 NBN KRAS CYBC1 CFB STAT3 SP110 MCIDAS PRTN3 EOGT IL2RB MEFV MKKS PIGL ATM TERT HOXD13 ENG CHAT DICER1 DGCR8 PKD1L1 MIF FRAS1 DNAJB13 TERT ZMYND10 MKRN3-AS1 TPM2 CD247 SCNN1A COL3A1 TRAF3IP2 SMPD1 MITF RSPH4A FLI1 COLQ LETM1 NFE2L2 ITCH LPIN2 TBCE VAMP1 TPP2 PIK3CA ZBTB24 ZAP70 CD3G CASP8 NR2F2 H19 OSTM1 COPA MESP2 PKHD1 BNC1 PRKAR1A CTCF RBM10 GLI3 GAA PRKAG2 SLC46A1 CHRM3 MYSM1 DNAI2 SLC29A3 CD3E SPAG1 RELA COL11A2 PML TNFRSF13C RSPH3 SCNN1G SFTPA2 SH3KBP1 CD79B SRP54 SMAD3 WNT4 LMNA CHRNG EPG5 KITLG BACH2 UBB SPIDR MAP3K20 FUZ GREB1L GATA6 TERT GSN KIF11 DHCR24 RFX5 IKBKB LEPR KEAP1 TERC EDNRB CRTAP BCL2 TRPS1 STAT6 SLC35A1 TERC CHRNG INVS COG6 CASP8 CARD11 DNAAF4 RRAS CLIP2 USB1 PYROXD1 FSHR PARN LYST RPL10 WDR60 RFXAP TCF3 PSMC3IP MECP2 IGH CTSC HLA-B TAPBP NOTCH2 GRIP1 GNS DLL3 CEP120 CBL SCNN1B GTF2E2 PARN GPKOW ATP11A TMEM260 TNFRSF13C CEP120 IL21R RFXANK CAV1 TBC1D24 SLC25A24 UBAC2 DHCR7 SGSH GATA4 PNP NFIX USB1 TSC2 TRIP13 IDUA IL23R RFXAP ADA RAG2 DRC1 ADNP NGLY1 WDR60 FLNA POU6F2 BCOR IL2RG NCF1 ROR2 SCN9A SCNN1A TGFB2 NSD2 INTU GTF2H5 SON MYH11 TARS1 LIFR BRAF RET OFD1 ARHGAP31 NOTCH2 SOX18 CTLA4 HELLS ZMYND10 NDN EFEMP2 ALOXE3 NFKBIA PLEC SFTPC TRIP13 MPLKIP RAG1 MYLK IGH USP9X PIGN XIAP NXN TBX5 RASGRP1 NHLRC2 ITGA8 ACTA1 DLL4 ATP6V1E1 TNFRSF11A DSP PCNT CD79B HLA-B GTF2I SMARCD2 EMG1 IL2RA PTPN22 IRF5 BGN ARID1B RSPH9 SAMD9 GUSB BTNL2 TNFRSF13B CYBA DKC1 KIAA0556 ALG12 PTH1R SLC26A2 GPR35 NUP107 HPS4 TBX1 CR2 TRPV4 KRAS PRKCD SLC11A1 EGFR NSMCE3 PLG UNG SGCG RAPSN DNAAF6 RPS15A APOE LYST ACTA2 SNRPN MESP2 TCIRG1 TBC1D24 TIMM8A RAG2 MUC5B IL17F NPAP1 HYDIN SERPINA1 IRF5 FAS CIITA KPTN CACNA1C PEX13 PLCG2 GATA6 COL6A2 DICER1 CTC1 LRRC6 SFTPB FADD TTC7A RNF168 FARSB HYLS1 NPHP3 IFNGR1 GAS8 CFTR SLC34A2 FLCN ALG9 AGTR1 WDR19 TRPV3 IGLL1 CRKL TMEM94 SLC26A2 CLPB FREM2 MYOD1 WDR34 SCNN1B CCN2 PRSS1 TBX6 TSC1 KLHL40 DDR2 CCDC103 MEFV PDGFRA IL2RG NCF4 WT1 RYR1 CACNA1B DYNC2H1 POLR3A DNAAF2 TRAIP CLCA4 JAK3 OFD1 IGHM NECTIN1 IER3IP1 TNFRSF1B DCLRE1C LGI4 BCR NOTCH3 SCARB2 EVC2 IL12A LRRC56 WT1 FASLG RSPO2 PWRN1 HSPG2 RAG2 BUB1 NKX2-1 ESS2 RNU4ATAC IRAK1 ELN MST1 HYDIN SLC2A10 RAF1 TGFBR2 IL12A-AS1 MRPS22 IRAK4 MYH7 DNAH9 NELFA TNFSF12 MYH3 GPC4 SMAD4 TINF2 GRHL3 DOK7 POLA1 ATP6V0A2 TRIM28 LCK DNAI1 SMARCA4 ORC6 CSPP1 MASP2 AKT1 BMPR2 SLC5A7 RSPH3 NAB2 CRELD1 TGFBR2 NIPAL4 LZTR1 G6PC3 CCNO DVL3 FAM13A SFTPC SLC52A3 UFD1 NHP2 EPM2A SCNN1A KIAA0586 MYSM1 RIT1 UNC119 CCDC65 RAG1 ARID2 LRBA FLNB B3GLCT FGFR1 CDCA7 GDF1 FLNA DCLRE1C DHCR24 RAG1 TPM3 SERPINH1 BRCA2 HELLPAR NFKB2 FBN1 NOP10 SFTPA2 FGFR3 JMJD1C RAF1 CD46 RAG2 FAT4 MBTPS2 FCGR2A PHGDH SNORD116-1 WAS SLC18A3 CFTR KDM6A TGFBR1 ICOS SLC25A22 RPGR HLA-DRB1 NCF1 ARSB MKS1 NME8 CITED2 EWSR1 ALMS1 HES7 TSC1 INHBA CR2 IRF1 GRIP1 NEB GFI1 SERPINA1 ARID1A TAF1 NPHP3 HACD1 RNF125 EVC LAMTOR2 SMARCB1 NEK1 CCND1 VHL GLA IDUA CDC42 TERT LAMB2 WDR34 CCDC151 CYP2A6 FOXE1 LEP TECPR2 RSPH4A SPECC1L BIRC3 DYNC2H1 ABL1 PRKDC GLB1 IRF2BP2 TYK2 TCIRG1 STAT4 LRRC56 CFTR TNFRSF13B FRAS1 CORO1A STK11 DNAAF6 IL1RN NRAS PHGDH FCGR3A ASCC1 BTK GMNN ETFA ABCA12 RAC1 COMT NAA10 ACP5 FBN1 RNF168 CD19 GBA LAMA2 NAA10 NFKB2 WAS NFKB2 AK2 MGP SOX10 PTEN GBA RNF113A DNAJB13 FAT4 BLM INPPL1 TNFRSF1A FADD RPGR DNAL1 CFAP298 GATA2 NUP88 BTK REST ZBTB16 FUCA1 DNAAF1 CSF2RB AGGF1 RAG1 ZMPSTE24 GAS2L2 FANCB PTPN22 INPPL1 ALPL MGP HPGD C1QA ELN SLC25A1 DNAAF3 RAG2 TGFB1 FCN3 CAV1 RSPH9 CYBB FANCB BUB3 FLCN GPC6 SMARCE1 ELN COL6A3 DYNC2LI1 AICDA CCN2 ELANE MEFV TERC CCR1 PAX3 CCDC103 ERCC2 KAT6B TRIP11 HLA-DRB1 ITGA8 FASLG KRAS PAX6 CD3E CD19 SMARCC2 WASHC5 TAPT1 SLC18A3 HLA-DRB1 WRAP53 CEP57 MANBA DNAAF5 RFC2 SMAD3 ERCC3 WNT4 CD3D WIPF1 MS4A1 TERC BCL11B CFTR TGFB1 SHROOM4 BLNK CCNQ IL7R MYL2 RHOH CTLA4 RARA RARB RIPK4 CCDC40 EP300 NEK9 IFIH1 SOX18 FLCN SCN10A KIF1A GNPTAB CRELD1 SCNN1B JAK3 IFT140 DOCK8 MBTPS2 ZFPM2 SPINK1 HLA-DRB1 PRKCD ACTA1 NGLY1 MARS1 FOXE3 CCNO FOXC2 RSPH1 KLRC4 PIGT NPM1 SAMD9L MYBPC3 LAMTOR2 ELN TK2 GUSB CARMIL2 ETFDH NRAS LRRC8A ARID1B SELENON LIMK1 FSHR FIP1L1 TBL2 RIT1 ACE RELB SDR9C7 NADK2 PERP SFTPC CHRND AARS2 SLC22A18 ITPR1 TBL1XR1 IL2RG CDC45 ALDH18A1 ICOS STRA6 FCGR2A MARS1 AFF4 KIAA0586 WNT3 IL7R RASA2 RTEL1 HPS6 HERC2 DONSON ERF TP53 IL17RA SCNN1G CLCN7 SCN11A SFTPB WT1 HIRA DPM2 NCF2 TP53 AFF4 EXOSC9 CCBE1 TRIP4 MYH3 NEK8 ELANE NME8 SLC35C1 DNAAF1 DPF2 KMT2D RIPPLY2 CD79A WT1 CCDC114 NBN BLNK TIRAP PCGF2 AGT COL2A1 PLVAP FAS ADAMTS2 DHCR7 DNAAF2 BMPER BUB1B IFT172 RSPH1 CTLA4 HLA-DPB1 CD81 PGM3 NOTCH1 ELN ADA EGFR RLIM NCF4 RB1 STAT1 FLNB CCDC114 CFI RFXANK RSPO2 MSN C4A TNFRSF13B COQ7 MINPP1 PTPN22 CD28 CIITA GALNS NR5A1 DPP9 CC2D2A DNMT3B TTC21B ITGA3 BMPR2 CFAP300 STX1A EHMT1 ITGA7 MFAP5 BTK MYO9A TTC25 SPEF2 TNFRSF13C MKRN3 MAT2A SKIV2L ZNHIT3 SOS2 SFTPA1 CXCR4 PIK3R1 RRAS2 RTEL1 RTEL1 COL3A1 CHST14 TSC1 TRIP11 CD55 FOXJ1 SLC7A7 TBX1 CYTB TLR4 SLC26A2 CYP4F22 COG4 AP3D1 ITCH MCTP2 CD79A GAS2L2 IL10 GLDN NOTCH3 ALOX12B RAG1 ALMS1 RCBTB1 GBA TFRC TSC2 CASP10 NKX2-5 PNP DYNC2LI1 TRIM28 STAT4 ARVCF SH2D1A IL21 ZAP70 PDGFRB RNU4ATAC DNAAF3 P4HTM KLHL41 CCNQ AGA BCOR MYD88 COL5A1 ABCA3 JAG1 TREX1 IGLL1 GLE1 IFT81 LTBP3 ASAH1 NPM1 IKZF1 DICER1 SLC7A7 CYBA HFE CBL RFX5 MS4A1 WNT3 JAGN1 PUF60 ZEB2 NAGLU BTNL2 FAM111B CFAP221 MLXIPL HRAS COL13A1 WDR35 SIK1 TRIP4 PWAR1 ECM1 LMNA TGM1 COL11A2 IRAK4 PRKG1 SELENON FGF20 CD19 IKBKG TGFBR1 DLL3 ELP1 IFT80 BAZ1B CTLA4 REN CHRNG ABCA3 ZNF341 WDR34 EXTL3 KAT6B TERT XIAP MYRF SPP1 CSF2RB CYBB PIK3R1 CCND1 NOP10 MUC5B FBN1 PRSS2 PLOD1 SYT2 KAT6B IGHM PANK2 IFT43 MRAS FAS CFH PTPRC MESP2 FOXP1 FLNA TBCD LBR VPS33A SMN1 IL6 NIPBL LEP NHLRC1 CCDC151 DOCK8 LRRC6 GTF2IRD1 SNAI2 CREBBP AP3B1 ETFB VANGL1 LMNA PRKAR1A A2ML1 CDT1 CCDC65