SNPMiner Trials by Shray Alag


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Report for Mutation P23H

Developed by Shray Alag, 2020.
SNP Clinical Trial Gene

There are 3 clinical trials

Clinical Trials


1 A Prospective, Multicenter, Longitudinal, Observational Natural History Study to Evaluate Disease Progression in Subjects With Autosomal Dominant Retinitis Pigmentosa (adRP) With Misfolded Rod Opsin Mutations

The purpose of this study is to gain an understanding of how adRP progresses over time in patients with misfolded rod opsin mutations.

NCT02926092 Retinitis Pigmentosa Diagnostic Test: Observation
MeSH:Retinitis Retinitis Pigmentosa
HPO:Cone/cone-rod dystrophy Pigmentary retinopathy Rod-cone dystrophy

The subject has 1 documented pre-specified heterozygous rhodopsin gene (RHO) mutation confirmed by genetic testing (mutations will include P23H, T17M, and R135W). --- P23H ---

Primary Outcomes

Measure: Progression of disease over time in adRP patients with misfolded rod opsin mutations using ellipsoid zone (EZ) area measurements

Time: Baseline to 4 years

Secondary Outcomes

Measure: Progression of disease over time in adRP patients with misfolded rod opsin mutations as measured by EZ width

Time: Baseline to 4 years

Measure: Progression of disease over time in adRP patients with misfolded rod opsin mutations as measured by visual fields (kinetic and static)

Time: Baseline to 4 years

Measure: Progression of disease over time in adRP patients with misfolded rod opsin mutations as measured by dark-adapted rod visual fields

Time: Baseline to 4 years

Measure: Progression of disease over time in adRP patients with misfolded rod opsin mutations as measured by electroretinography (ERG): dark- and light-adapted

Time: Baseline to 4 years

Measure: Progression of disease over time in adRP patients with misfolded rod opsin mutations as measured by best corrected visual acuity (BCVA)

Time: Baseline to 4 years

Measure: Vision-related function and quality of life as measured by 25-item National Eye Institute Visual Function Questionnaire (NEI VFQ-25) plus its additional items

Time: Baseline to 4 years

2 Oral Hydroxychloroquine for Retinitis Pigmentosa Caused by P23H-RHO (Substitution of Proline to Histidine at Codon 23 of the Rhodopsin Protein)

This research study is being done to learn what effect 12 months of treatment with oral hydroxychloroquine (HCQ) will have on the retina in people with retinitis pigmentosa (RP). The hypothesis is that treatment with HCQ is safe and tolerable in patients with autosomal dominant retinitis pigmentosa (adRP) caused by P23H-RHO, and may arrest progression of retinal degeneration by altering the autophagy pathway in photoreceptors. Participants that meet eligibility and agree to the study will be asked to take the study medication (HCQ) for 12 months and have evaluations for up to approximately 18 months from the baseline visit. There will be a total of 6 visits (1 is a phone visit) and will include general examinations, blood work, electrocardiograms, along with special testing of the retina.

NCT04120883 Retinitis Pigmentosa Drug: Hydroxychloroquine lower dose Drug: Hydroxychloroquine higher dose
MeSH:Retinitis Retinitis Pigmentosa
HPO:Cone/cone-rod dystrophy Pigmentary retinopathy Rod-cone dystrophy

Oral Hydroxychloroquine for Retinitis Pigmentosa Caused by P23H-RHO (Substitution of Proline to Histidine at Codon 23 of the Rhodopsin Protein). --- P23H ---

Oral Hydroxychloroquine (HCQ) for Retinitis Pigmentosa Caused by P23H- Rhodopsin (RHO) This research study is being done to learn what effect 12 months of treatment with oral hydroxychloroquine (HCQ) will have on the retina in people with retinitis pigmentosa (RP). --- P23H ---

The hypothesis is that treatment with HCQ is safe and tolerable in patients with autosomal dominant retinitis pigmentosa (adRP) caused by P23H-RHO, and may arrest progression of retinal degeneration by altering the autophagy pathway in photoreceptors. --- P23H ---

Inclusion Criteria: - Stated willingness to comply with all study procedures and availability for the duration of the study - Signed and dated informed consent form - Early Treatment Diabetic Retinopathy Study Best Corrected Visual Acuity (ETDRS BCVA) of 20 letters (approximately 20/400 Snellen) or better in at least one eye - Clinical diagnosis of autosomal dominant retinitis pigmentosa - Confirmed to have one copy of the P23H-RHO pathogenic variant by genetic testing at a Clinical Laboratory Improvement Amendments (CLIA)-certified laboratory - Clarity of ocular media and adequate pupillary dilation to allow for adequate clinical ocular examination and retinal imaging - Ability to perform testing required by the study as determined by the investigator - Ability to take oral medication (medication tablets must be swallowed whole) and be willing to adhere to the daily medication regimen - For females of reproductive potential: use of highly effective contraception beginning no later than 1 week after the first screening visit, and agreement to use such a method during study participation and through the end of the washout period (6 months after the end of HCQ administration) - Agreement to adhere to Lifestyle Considerations throughout study duration (take the study drug with meals, avoid taking over-the-counter antacids or kaolin-containing products 4 hours before or after taking the study drug) Exclusion Criteria: - Use of any other drugs which are known to prolong the QT interval - Concurrent use of any of the following drugs, if the drug cannot be discontinued or substituted: digoxin, antiepileptic medications, cimetidine, methotrexate, cyclosporine, praziquantel, ampicillin - Current or previous use of tamoxifen - Pregnancy or lactation - Known allergy or hypersensitivity to hydroxychloroquine or any other 4-aminoquinoline drugs (chloroquine, amodiaquine, mefloquine, quinacrine, etc.), or known history of glucose-6-phosphate dehydrogenase deficiency - Treatment with another investigational medical intervention for retinitis pigmentosa within 3 months, or any ever previous treatment with an investigational surgical intervention - Any pre-existing cardiac, renal, hepatic, or hematologic disease, any prior history of psoriasis or porphyria, or any alcoholism - Abnormal screening laboratory values including aspartate transaminase (AST) or alanine transaminase (ALT) > 2.0 x upper limit of normal, subnormal glomerular filtration rate (< 90 mL/min/1.73m2) --- P23H ---

Primary Outcomes

Description: These will be performed at: screening, baseline, 4 months, 12 months, and 18 months

Measure: Change in Ellipsoid zone area measured by Spectral-Domain Optical Coherence Tomography (SD-OCT)

Time: screening up to 18 months

Description: These will be performed at: screening, baseline, 4 months, 12 months, and 18 months

Measure: Change in Retinal sensitivity (decibels) measured by scotopic and mesopic microperimetry

Time: screening up to 18 months

3 A Prospective First-In-Human Study to Evaluate the Safety and Tolerability of QR-1123 in Subjects With Autosomal Dominant Retinitis Pigmentosa (adRP) Due to the P23H Mutation in the RHO Gene

This study evaluates the safety, tolerability and efficacy of QR-1123 injection in the eye (intravitreal; IVT) injections (one eye/unilateral) in subjects receiving a single dose or repeat doses. Single injections will be assessed in an open label way, and repeat injections will be assessed in a double-masked, randomized, sham-controlled fashion.

NCT04123626 Autosomal Dominant Retinitis Pigmentosa Eye Diseases Eye Diseases, Hereditary Retinal Dystrophies Retinal Disease Retinitis Vision Tunnel Vision Disorders Drug: QR-1123 Other: Sham procedure
MeSH:Arthrogryposis Vision Disorders Retinitis Retinitis Pigmentosa Retinal Diseases Retinal Dystrophies Eye Diseases, Hereditary Genetic Diseases, Inborn Eye Diseases
HPO:Abnormal retinal morphology Abnormality of the eye Arthrogryposis multiplex congenita Cone/cone-rod dystrophy Hemeralopia Metamorphopsia Pigmentary retinopathy Retinal dystrophy Retinopathy Rod-cone dystrophy Visual impairment

A Prospective First-In-Human Study to Evaluate the Safety and Tolerability of QR-1123 in Subjects With Autosomal Dominant Retinitis Pigmentosa (adRP) Due to the P23H Mutation in the RHO Gene. --- P23H ---

A Study to Evaluate the Safety and Tolerability of QR-1123 in Subjects With Autosomal Dominant Retinitis Pigmentosa Due to the P23H Mutation in the RHO Gene This study evaluates the safety, tolerability and efficacy of QR-1123 injection in the eye (intravitreal; IVT) injections (one eye/unilateral) in subjects receiving a single dose or repeat doses. --- P23H ---

4. A molecular diagnosis of autosomal dominant form of RP with the P23H mutation in the RHO gene, based on genetic analysis. --- P23H ---

Main Exclusion Criteria: 1. Presence of additional pathogenic mutations in genes (other than the P23H mutation in the RHO gene) associated with inherited retinal degenerative diseases or syndromes, based on genetic analysis (eg, Usher syndrome, Leber's congenital amaurosis, etc). --- P23H ---

Autosomal Dominant Retinitis Pigmentosa Eye Diseases Eye Diseases, Hereditary Retinal Dystrophies Retinal Disease Retinitis Vision Tunnel Vision Disorders Arthrogryposis Vision Disorders Retinitis Retinitis Pigmentosa Retinal Diseases Retinal Dystrophies Eye Diseases, Hereditary Genetic Diseases, Inborn Eye Diseases QR-1123 is an antisense oligonucleotide, designed to specifically target the mutant P23H messenger ribonucleic acid (mRNA) in order to reduce the expression of the P23H protein selectively, while preserving expression of the wild type (WT) rhodopsin (RHO) protein. --- P23H ---

Autosomal Dominant Retinitis Pigmentosa Eye Diseases Eye Diseases, Hereditary Retinal Dystrophies Retinal Disease Retinitis Vision Tunnel Vision Disorders Arthrogryposis Vision Disorders Retinitis Retinitis Pigmentosa Retinal Diseases Retinal Dystrophies Eye Diseases, Hereditary Genetic Diseases, Inborn Eye Diseases QR-1123 is an antisense oligonucleotide, designed to specifically target the mutant P23H messenger ribonucleic acid (mRNA) in order to reduce the expression of the P23H protein selectively, while preserving expression of the wild type (WT) rhodopsin (RHO) protein. --- P23H --- --- P23H ---

It is hypothesized that the reduction of mutant P23H mRNA will reduce the deleterious effects of the dominant-negative protein and should result in increased function of WT rhodopsin protein in photoreceptors. --- P23H ---

Restoration of WT RHO function is expected to improve vision in patients with adRP due to the P23H mutation. --- P23H ---

Primary Outcomes

Description: Incidence and severity of ocular adverse events scored based on CTCAC in the study and fellow eye

Measure: Incidence and Severity of ocular AEs

Time: up to 12 months

Description: Incidence and severity of non-ocular adverse events scored based on CTCAC in the study and fellow eye

Measure: Incidence and Severity of non-ocular AEs

Time: up to 12 months

Secondary Outcomes

Description: Changes in Best corrected visual acuity (BCVA)

Measure: Changes in BCVA

Time: up to 12 months

Description: Changes in Low-luminance visual acuity (LLVA)

Measure: Changes in LLVA

Time: up to 12 months

Description: Changes in Dark adapted chromatic (DAC) perimetry

Measure: Changes in DAC perimetry

Time: up to 12 months

Description: Changes in Static VF (Visual Field)

Measure: Changes in Static VF

Time: up to 12 months

Description: Changes in Microperimetry

Measure: Changes in Microperimetry

Time: up to 12 months

Description: Changes in Spectral Domain-Optical Coherence Tomography

Measure: Changes in SD-OCT

Time: up to 12 months

Description: Changes in Full-field Stimulus Threshold (FST)

Measure: Changes in FST

Time: up to 12 months

Description: Changes in Full-field Electroretinogram (ERG)

Measure: Changes in Full-field ERG

Time: up to 12 months

Description: Changes in Fundus Autofluorescence (FAF)

Measure: Changes in FAF

Time: up to 12 months

Description: Changes in Contrast sensitivity

Measure: Changes in Contrast sensitivity

Time: up to 12 months

Description: Changes in Color vision

Measure: Changes in Color vision

Time: up to 12 months

Description: Serum levels of QR-1123

Measure: Assessment of systemic exposure after treatment with QR-1123

Time: up to 12 months


HPO Nodes


HP:0000556: Retinal dystrophy
Genes 380
SEMA4A SNRNP200 ACO2 HACE1 PROM1 RNU4ATAC TMEM231 KLHL7 SDCCAG8 CTSD LRAT TMEM237 GNAT1 BEST1 IFT172 CACNA1F PCDH15 NPHP1 MVK CDH3 NGLY1 PDE6A NPHP3 MKKS PGK1 BEST1 IMPG2 CDH3 MYO5A ARL6 IFT74 LARGE1 UBE3B ALMS1 MKS1 GNAT1 CCDC28B PDE6G IFT27 USH2A COX7B ARV1 BBS7 TMEM138 GGCX GRK1 RBP3 KLHL7 ARL3 CA4 CRX EYS PHYH TRNT1 MFRP POMGNT2 PANK2 HCCS PEX26 COQ2 CEP41 SAG ROM1 CABP4 WARS2 CDH23 RLBP1 IFT140 ARL2BP LAMA1 TRNE ND1 TELO2 PEX7 SAG IMPG1 TRNK CLRN1 PEX3 CEP290 PCYT1A RGR GUCA1A PDE6B ACOX1 FAM161A PNPLA6 CEP290 PDE6B SLC7A14 PGK1 MDH2 BBS12 NRL INPP5E ABCA4 BBS2 LRP2 PEX1 RHO RDH5 PDE6C ANK1 ADAM9 TTLL5 RNF216 FSCN2 INPP5E ATP6 PPP2R3C PEX12 SLC19A2 RHO HGSNAT PEX1 OFD1 PEX13 POMGNT1 AIPL1 GUCY2D KIAA0586 RP1 DRAM2 INVS RPE65 RDH12 CDH3 KIF5A TMEM138 RAX2 TRPM1 PRPF8 LRP2 CNNM4 USH1C MAK PRPF4 CERKL ADGRV1 EXOSC3 RBP3 IMPDH1 MAPKAPK3 ARL6 CEP120 CACNA2D4 LRAT CEP290 GPR179 ABHD12 TRAF3IP1 KCNV2 EXOSC2 PEX2 LZTFL1 SRD5A3 TMEM216 DHDDS ELOVL4 CNGB1 CLN3 POMT1 NPHP1 PRCD RDH11 PMM2 PRPS1 MERTK ND5 PEX16 TRAPPC9 PRPH2 PEX11B ZNF423 RPGRIP1L PEX6 HACE1 NPHP4 POC1B PEX5 TMEM216 USH1C ZNF408 IQCB1 REEP6 CFAP410 TULP1 DHX38 CRX PEX12 NYX RPGR C8ORF37 PANK2 INPP5E RPGR CC2D2A NEK2 AHR PEX2 EP300 FDXR DYNC2I2 CHST6 HMX1 RPGRIP1 RNF113A WHRN RBP4 FKRP ATXN2 RIMS1 POGZ PEX6 BBS5 PCDH15 COL4A1 RLBP1 CRPPA ITM2B TMEM67 SH2B1 PRPF3 ABCA4 IDH3B ATP6 SYCE1 ARL6 MYO7A AHI1 TMEM67 CRB1 CEP164 AIPL1 GRM6 CEP41 NR2E3 RP1L1 AP3B2 PEX19 VPS13B CDHR1 RXYLT1 LAMA1 CEP290 BBS4 CREBBP PRPF6 TIMP3 BBS2 DNAJC21 SDCCAG8 USH1G RPGR PCYT1A BBIP1 CC2D2A RAB28 MFSD8 PNPLA6 PROM1 POMK PRPF31 CLRN1 TUBGCP6 HSPD1 C8ORF37 BMP4 PEX10 TTC8 ALMS1 PRPS1 ASPA TRNL1 KIF11 POGZ BBS1 SLC24A1 MYO6 ATXN7 NDUFA9 TOPORS ND4 PEX26 IQCB1 WDR19 WDR19 CRYAB PDE6H PDE6G LRIT3 DAG1 PEX10 VPS13B PDZD7 BCS1L TRNL1 RNU4ATAC PEX14 CFAP410 USH2A CIB2 GRN ND3 C1QTNF5 CACNA1F TRNK ROM1 NEK1 RDH11 TRNW RP9 PEX7 POMT2 B4GAT1 PITPNM3 ND6 ND2 PRPH2 PCARE DAG1 PEX16 OFD1 TULP1 PRPH2 CEP290 TRAF3IP1 GATA3 CCNQ RPL10 CSPP1 FKTN BBS10 ZNF513 RLBP1 CNGA1 SLC35A2 BBS9 TRNV B3GALNT2 TUB CWC27 NPHP4 RHO CLDN19 AHI1 HGSNAT PGAP1 BMP4 TTC8 KIZ ATP6 GUCA1B FLVCR1 WDR19 NDUFB11 PRPH2 FGFR2 ARL6 APOB FLVCR1 IMPG2 RCBTB1 IFT122 CNGA1 C8ORF37 PMM2 SLC19A2 PROM1 PEX1 PDZD7 POMT1 MKS1 SEMA4A OTX2 ARMC9 SIX6 RP2 EFEMP1 CLRN1
Protein Mutations 1
P23H
SNP 0
HP:0000478: Abnormality of the eye
Genes 5127
TWIST1 IL2RA VPS11 PROM1 SLC12A6 ELMO2 SDCCAG8 PHF6 KCNJ1 TCIRG1 MICOS13 SYNJ1 MTAP GNAT1 INSR ELP1 FRMD4A KCNAB2 FGFR3 TSFM RNASEH2C CD19 EPCAM DNAH1 POLG NF1 ATP1A3 MAG SOST SIX3 MOGS COL2A1 ASAH1 NDUFS7 GPR35 TK2 TMEM138 SPRY4 TACR3 CHMP1A BPNT2 ERMARD COL2A1 SLC39A5 CACNA1G GNA11 SHOC2 RDH12 HCCS RAB3GAP2 SF3B4 GLA CC2D2A COL11A2 CCR1 PITPNM3 ATP8 TRNL1 OPN1MW ROM1 PTCH1 NEB GABRD IREB2 ANOS1 B9D1 FAM111A MYH8 ERCC3 HLA-DQB1 TTPA DLG4 OGT ZMYND11 OPN1MW INS GBA PNPLA6 RPIA GSR SCN1A COQ2 CLCNKB HPS4 SLC7A14 PIEZO2 MARCHF6 KIT GBA RMRP PHYH SLX4 CST6 INSR OCLN KCNC3 POMGNT1 CHRNG WDR11 SARDH MAG TREX1 SLC19A2 NFIX NALCN PAX6 RPGRIP1 KCNJ13 KRT5 VPS13C IGFBP7 AKT3 GHR RPE65 KDM6B GUCY2D CRYGB TBR1 CFI BRF1 FBXO11 RAI1 RFC1 PHGDH KRT10 FLRT3 SLC9A1 OPN1MW EVC2 SEC24D TBC1D20 CILK1 MAPT ABCC8 TOE1 MFSD8 DICER1 WT1 ZFPM2 JAM2 USP8 SDHA EBP ATXN8OS ELOVL4 NEXMIF MICU1 EEF1A2 ATF6 LRIT3 IFT80 UFD1 LETM1 NDUFAF3 DDC TDGF1 MEGF8 SNORD115-1 ZFYVE26 TMEM126B HNRNPA2B1 HACE1 POC1B TBCE FGFR1 SPECC1L RARS1 SDHD ZFPM2 TAP1 TTC19 ALS2 GPC1 FOXJ1 FANCE CHRNG MTR SLC4A11 PPP2R5D DNMT3A DCC TRAF3IP2 PEX2 GPR161 POU3F4 CLTC ALX3 ANKRD11 EXTL3 DEAF1 CHRNB1 PDE4D MMP2 HESX1 HLA-DRB1 PLK4 TBC1D7 TWIST1 CHRDL1 NFIX TULP1 FANCL SMAD4 FOXE3 RFC1 ERCC3 FRRS1L UBA5 ATP13A2 SMAD4 MAFB NOP56 C8ORF37 PDHX ATP6V0A2 NANS SOS2 CEP41 RETREG1 FBN1 CERKL CRIPT PGAP1 MSH6 CREBBP POLG ATP1A2 APC PLG UGP2 DNAJC21 PARS2 DUSP6 MITF IGLL1 FAT2 ABCA12 MYH2 PNPLA6 ND6 TMCO1 GALC TERT NSD2 TRAPPC12 FANCG FREM1 PEX2 ASPA APP ATXN7 ARSL NBAS CACNA1F PDE6H CHAMP1 ALDH1A3 CRYBA4 VPS13B PDZD7 PRPF4 NODAL KCNA1 PEX13 SMARCE1 TTC8 SNCA MTFMT NAA10 TGFBR2 NDUFB3 FA2H XYLT2 PBX1 CDKN1C PPP2R1A BRAT1 PIGT NDUFAF3 H19 LEMD3 ABL1 NOG CYP1B1 NIPAL4 MME TRAIP CDC45 GDAP2 HGSNAT MAPT KIF21A PRKAR1A APC BCL11B TAPT1 MMUT NLRP3 DLL1 QARS1 MTRR FLVCR1 PEX10 ND6 RCBTB1 KRT6A RP1 GNAS CWF19L1 RECQL4 KISS1R POU1F1 CTSH PAH ASAH1 SDHD GMPPB DNM1 ABCC8 XPC NSDHL ACTA1 ACSL4 GRM1 MYO18B RTTN MCIDAS ABCC8 STXBP1 NPHP3 MKKS A2ML1 FKRP POLG MC1R MAPK8IP3 BEAN1 NUP188 GUCA1B GUSB ND3 ZNF335 CD79B APOE AMER1 SPATA5 FUS VAMP2 PLA2G6 FZD2 ADAMTS3 PLOD1 HLCS PROP1 CANT1 COLEC11 MYF6 TNFRSF11A ARHGAP31 SAG RAX2 ORAI1 PEX13 SMCHD1 CHRNE IFT140 PDE6B TMEM237 PEX11B AP4M1 TSC2 LRP5 PEX7 C1QBP CFAP298 PHOX2B SCN2A GTF2H5 VMA21 ABCD1 NAGA FAM111A ALG12 RET GLI3 HGD NDUFS1 PIGP TRMT10A CACNA1A TONSL RPE65 GALNS MBTPS2 UBA5 COL4A3 SOX10 CYTB TMEM98 HELLS RPS7 TTLL5 POMGNT1 KIF5A DYNC2I1 FLT1 MYO7A FLT4 HCRT PPP2R3C CCDC39 ARMC4 HLA-B SHH BCOR POR CNTNAP1 FAS DNMBP TPI1 MMACHC MBTPS2 ATXN8 NEU1 RP1 KRT3 FCSK ERCC5 JAG1 CTNND1 RIPK4 LRP2 RYR1 LIFR MAB21L2 FLNA PTPN22 PEX2 COL1A2 TWNK RBP3 NAA10 MITF CACNA2D4 EIF2B5 CENPF RYR1 VPS35 GJB1 COL11A2 TOE1 SOX2 ATXN3 CFAP410 TRAF7 C12ORF4 GMPPB PCDH15 KCTD1 TRIM28 SOST POLH P4HB PIK3CA GPR143 BBS12 EPRS1 SLC12A3 MVK TACO1 PINK1 TET3 ATN1 SLC6A8 COL4A4 REEP6 KIAA0586 RRM2B PSMB9 B4GALNT1 MAPT TRNS1 GBA ERCC6 INPP5E ALG3 BMPR1A ERCC3 HLA-DRB1 MFAP5 VWA3B EPG5 CACNA1A PIK3R2 HADHB MECR ZFHX2 FMN2 APC BCL11A WHRN POLG CLCNKB WDR26 BRAT1 BRAF FAM111A NAGA PTS FAM20C ND2 MIF STAT4 AP4S1 BBS7 CDK13 UQCRFS1 GJB2 TBCE HRAS UROS ATP6 SNAP29 ALS2 CRYGC KIF1C ADAMTSL4 RAD51C GNPTAB TNFRSF11B SDHB PRNP CDC42 TRNL1 IDUA TBX1 SLC4A11 SLC25A15 CD96 CALR SH3BP2 GMPPB DPH1 MPC1 OFD1 HIKESHI LZTR1 KCNA4 GGCX BMP4 ATXN2 ENG POGZ DDOST MYO6 PRPS1 POU1F1 FLNA TYR TFAP2B ND4 FAM161A WDR19 PARN ASXL2 USP45 PRKAR1A KDSR FBN1 VCP PRKAR1A TBC1D24 ABCA4 FRRS1L FOXRED1 PEX6 CDK10 POLG GALT WDR19 MERTK RPGR AHDC1 CFHR1 NDUFA13 ETHE1 CBS RLBP1 MYO5A HLA-DRB1 TRNV PSAP TGFBR1 GNRH1 NPHP4 C12ORF65 NDUFB11 SLC25A19 AHI1 RRAS ZSWIM6 IARS2 KIF7 MAT2A IFT172 BUB1B C12ORF65 ARL6 TDP1 COL1A1 SCN3A CRX SLC6A3 EXOSC8 GPRASP2 COL9A1 GTF2E2 LTBP2 RPS6KA3 PRIMPOL OSGEP OXR1 PPM1D SMS RSPH1 DYNC2LI1 LRP4 PDGFRB TMEM231 LIMK1 PDE6H MARS2 LBR MRAS B4GALT7 SUCLA2 PRRX1 EIF2B4 CACNA1F JAK2 NARS2 KIFBP HLA-DRB1 AFF4 PDE6A TREM2 NOTCH3 FGFR1 DNM2 NUBPL CNGA3 ELN NDUFS8 FLNB CTSK PITX2 MED12 AARS2 DPM2 PRSS56 MYH3 RRM2B ATP6 POLR1A GNAQ SYNE2 ADA2 KMT2B IFT122 PDP1 NRAS TTBK2 DNAH9 SALL4 WDR4 HADH CDKL5 DNM2 ALG11 ACY1 PAX6 CHRNA7 XPC AIPL1 NDUFV2 AP4E1 KRT12 SHOC2 AGK TNFSF11 ROR2 HMGA2 ALG14 POLG TRNQ BFSP1 PROS1 POLR1D KIF7 COX3 XYLT2 COQ2 AGK GATA4 GABRA2 KMT2A ATRX COL8A2 GNAS ARSG KDM5C MTOR FBN1 SRCAP ELOVL5 MYMK UNC119 B2M DOCK6 LRP2 MYSM1 ELOVL5 MGMT CTCF AGL UFC1 NDUFB10 FRAS1 FKRP WFS1 EDN3 GUCA1A TRPM1 NRAS SOX2 SKI MIR140 GP1BB CORIN PITX2 ZNF365 C1R COL2A1 CTSA H19-ICR GZF1 B9D1 STS LAMA2 APTX LRPPRC INPPL1 TRAPPC6B ASPM SLC18A3 XPR1 SLC25A4 ABHD5 DST CACNA1F FIBP DNAAF6 GRM1 TBC1D24 CCDC141 CPLANE1 CCDC141 HFE KAT6A POLR1C JAK2 STAMBP FGFR2 LEMD3 TRAF3IP1 BMP1 PRRT2 TMEM216 RDH12 CLN3 LMX1B TRNS1 LMNA HNRNPK ADGRV1 ESR1 ROBO1 TMEM216 POMGNT2 PEX11B PEX6 CEP290 C9ORF72 CACNA1A TMEM237 TGFBI RNR1 SEPTIN9 RNF216 IL12A RIPK4 ATP2B3 FLNB RHO HELLS DHX38 KIZ MOCS2 CEP120 CLCN7 CC2D2A SMAD3 IDUA GABRB2 FGFR3 ABCC8 ARNT2 HMX1 TMEM43 GABRG2 BBS9 SDHA ATXN2 GALK1 CACNB4 NLRP1 PNPLA1 TCIRG1 ISCA2 KCNJ11 SKIV2L ABCA4 VPS11 TPM2 OCA2 PDGFRB WNK1 GNAS ENPP1 STAT6 MTM1 NEUROD1 LZTFL1 ERCC6 GHR WNT10A TRPV3 MGME1 CNTN1 CDKL5 ANO10 BRCA2 NELFA RXYLT1 COX1 GJB4 GUCA1A FOXL2 TRRAP RAB11B RPGRIP1L RSRC1 PROM1 PIK3R1 LRP4 RYR1 RYR1 ABCA4 PYCR1 RYR1 KRT25 DNAI1 CISD2 DPM1 CYBB ND6 NYX SNAI2 CPAMD8 TARS1 PEX10 ALMS1 ELN PNPLA6 RAG2 SLC24A1 STX16 PRNP COL5A1 ANKRD55 EDNRB VCAN PLP1 ATP6V1E1 CA4 LHX4 GRN STRA6 EFNB1 FBN1 PSMB4 DAG1 YAP1 PCARE LRRC6 ABCC6 SUFU COX2 DNAAF5 RET MYH3 ADAR STOX1 RAX LTBP2 TFAP2B VSX1 ADAMTSL4 USP9X KCND3 HDAC4 TUB SPECC1L CTNS MGME1 TTC8 FAS MAF ROR1 FGF8 SLC2A1 PYCR2 CPLANE1 TWIST1 ARX SAR1B PEX2 STT3B SLC24A5 ATP1A2 CLCN7 TMEM38B AMER1 USP45 LIFR RRM2B ACO2 NALCN SCO1 NDUFAF6 ARID1A TYRP1 NUP62 ATXN3 NOP10 FGFR1 CRADD IFT80 COL1A1 MYMK LSS SPRTN TBX1 TRNP LINS1 SRCAP CTNNB1 KRAS USH2A COX7B RAB3GAP2 COG4 HRAS RBP3 SLC29A3 TUBB3 LMOD3 DDB2 COG8 TOPORS WDR11 ADAM17 GATA6 CENPE PANK2 CHMP4B ND4 CSPP1 GNAQ KLHL41 MAFB AUTS2 TUFM SCARF2 PROK2 AUH CRYBB3 ALDH3A2 UBE2A SEMA3E SERPINI1 CPLX1 OPN1LW IFT140 CHD7 CC2D2A ADAMTS2 SHH FLNA MMP19 FERMT1 ATOH7 VSX1 MAN2B1 CHRND RAB3GAP2 GRK1 ATRX CEP290 PGK1 MYORG ACO2 FANCG CTNNB1 KCNH1 HDAC8 GATA2 ZNF469 ASXL1 NEB STAT3 KATNIP FGFR1 ITGA2B PTRH2 FBN1 ANK1 COQ7 RARS1 COQ2 NLRP3 HTRA1 KIAA0753 TAZ NDUFAF5 INPP5E LETM1 DHODH FANCI SLC13A5 PIGC CYP1B1 APC2 PIGA ATCAY TPRKB SLC39A13 MCM5 POLR3A MORC2 CAMK2A NRAS TTBK2 PMPCB ATN1 CRPPA CDH23 PPP1R17 EBP ERCC5 GTPBP3 ASXL3 PAX6 PARK7 HUWE1 KRIT1 FOXE3 MAPKAPK3 LRPAP1 GRHL2 SNX10 APOB RPGRIP1L ASXL1 ETFA MYO5A REPS1 CDH23 LARP7 IER3IP1 FGF10 ABCC6 THOC6 PRCD CTNND2 NDP TRAF3IP2 RIC1 FAN1 PUM1 PLA2G6 RPGRIP1L NDUFAF2 CENPE VPS33A LOXL3 NSUN2 PROM1 FBN1 NOTCH2 ERCC5 SLC4A4 CEP104 CHST3 CCDC88A RPE65 ENG TULP1 TTR CRX ATP6V0A2 PLXND1 INPP5E ATG5 EMD CACNA1S AHR LRP4 TAC3 PPP1R15B PAX3 PIGT XRCC4 SAMD9 PNPO KCNN3 CA2 ATP7B PDE4D OPHN1 PMPCA FBN2 CACNA1A RIMS1 POGZ ANTXR1 SLC26A2 AP4M1 RNF168 RP9 PTF1A PCDH12 TMEM67 ATP13A2 ADGRG1 BMPR1A OSMR CACNA1A EHMT1 KIF1A DNMT3A MYPN AIPL1 DNAH5 CRYBA4 PQBP1 FRG1 BEAN1 HEXB GRIA4 IFT140 FLCN RARB CEP290 ALPL GRIP1 VAMP1 GLI2 TUBB3 FOXA2 WDR73 C19ORF12 TMEM127 CD79B KAT6B ZIC1 PCYT1A BBIP1 GNAT2 TAP2 RAB28 TP53 PDX1 POMK AVP DPYD PIK3CA KRAS SPTBN2 ND5 CTDP1 KRAS NDUFAF1 NDUFS3 COL11A1 FBXL4 SMARCE1 EPS15L1 KLHL40 PRPH2 TRIO GUCY2D MAP2K2 ERMARD MAFA PEPD SLC5A7 DNAAF2 SEMA4A AP1S1 TGDS LMNB1 DPM2 MAX ZEB1 TULP1 SNRNP200 SPATA7 PRPH2 VCP GBA2 OFD1 NOP10 SCN9A MTTP STUB1 FKTN GMPPA USP9X BBIP1 ND5 NHP2 SLC35A2 ANGPTL6 CWC27 CAMTA1 PEX16 NDE1 CHD7 HGSNAT WWOX HPGD PRPH2 RAB39B TKT DLX6 MBTPS2 TPM3 TET2 BTD ADAMTSL4 PEX14 FLNB TRNS2 EED ALDOA JAM2 USP8 WDR73 PITX2 FGFR1 AP3B1 FLNA SYT14 TUBA8 GNB1 STIM1 KMT2D CAMTA1 GLB1 LMAN2L NEB IFT172 TSC2 KIF7 KRAS NKX6-2 BLNK LRP4 POMT1 TOMM40 GBA WDPCP B4GAT1 RUBCN REEP6 TP63 KIAA1549 TCF4 SAG PNPLA6 RRAS2 MEFV MC1R TERT SACS BRIP1 MBTPS2 DDX11 CRYGD KRAS MED25 SLC2A1 CRYGD COL2A1 TYMP SALL4 YAP1 ATM EYS KCNH1 GJA1 SH3BP2 GSC TGIF1 GLI2 BANF1 CACNB4 PEX1 OPN1SW DNA2 DHPS ND4 GPC3 MLH3 LGI4 ATP2B3 RAF1 ALDH7A1 KCNQ3 TWNK COL3A1 COLQ WDR45 HDAC6 GJA1 COL11A2 SDHB VSX1 GUCA1A TBX1 ZFHX4 RNF113A RAI1 SLC45A2 CTNS PTCH1 PLEC SEMA4A RPGRIP1 CEP120 RLBP1 PDSS2 CKAP2L KCNH1 GALNT3 PEX12 NUP107 PTCH2 NFIX TAB2 GPR143 TRAPPC12 INPPL1 SMARCB1 COX8A SUFU NRAS AGA RAD21 CEP290 ERCC2 MBD5 TYR GREB1L COL25A1 BEST1 PURA CYTB TPM2 AIPL1 EXOSC9 COL11A1 LRP12 SLC25A20 MYOC CLCN7 KDM1A MME RET LAMB1 MST1 PEX12 DSE NDUFS6 ARSB SCO2 VIM TRAPPC9 FGFR3 GEMIN4 TCTN1 NDUFA11 ARHGEF2 GJB6 SLC18A3 KISS1R LRAT TPP1 TERF2IP MPLKIP WDR19 MED23 PTPN22 GMPPB OFD1 OPA1 OPN1LW ABHD12 PDGFRB HYMAI ALKBH8 DNAAF4 FGFR2 LRP5 OCRL ARL13B ERCC2 WNT5A FAM126A SLC6A19 TINF2 KCNB1 HSD3B7 NPHP1 ABCA1 PMM2 CEP104 ARL6 GTF2IRD1 COG8 COL8A2 TUBB2B TP53 SDHD FANCB CDHR1 NF2 UNC45B NPC1 WT1 GPIHBP1 MRE11 COL18A1 KCTD7 CEP57 CNGA1 TRIO TBX1 AGRN LDLR CLN5 POLG SMO POU1F1 NF2 SELENOI ACTA1 LHX4 NSD1 MACF1 ZMPSTE24 TONSL DPF2 C12ORF57 SUMF1 OFD1 SCN1A POMGNT1 NEK2 CTBP1 MAK GALC GCK BBS2 COMT POMT2 PAX6 XYLT1 PEX5 GUCA1A ITM2B GP1BA SIL1 DNMT1 RSPH9 ZFYVE26 GLIS3 PEX26 PIK3R5 ERF RAB27A ERAP1 MITF TRMT5 MCM3AP SOX5 TAF2 CRB1 TSHR AIPL1 PPP2R5D PTH TBCK PEX19 TGFBR2 DKK1 NPHP1 MYOC HARS1 PAX6 SRY NKX6-2 PTDSS1 PDE6C PMS1 RAC1 TMEM94 TMEM107 MAN1B1 MMP1 LMBR1 SEC23B FYCO1 RPL35A GP1BA LCAT MDH2 GSN CNGB3 GATA5 CYTB POLG EEF2 MKS1 TTC8 LMNB1 CHD7 COL18A1 SIX6 IQCB1 ACOX2 PLK4 GATA4 SH3PXD2B PRPH2 PACS1 NDUFA10 BCS1L PLAGL1 KCNC3 TUB ERCC6 ABCA1 VSX2 BTK EIF2B1 ARL3 ELOVL4 STRA6 CNNM4 CLDN19 RPS20 FGFR2 KMT2A AGA PIEZO2 COL11A1 FGF12 NCF1 ATR RAB23 MKS1 COL1A2 ARID2 CACNA1F TIMM8A HMGB3 TEK PAH RHO ZMPSTE24 ABCC8 ND2 FBLN5 KIZ ALX1 LRRC56 EIF4G1 NSMF SOS1 KCNA2 FREM1 CTC1 MMADHC IFT122 OPA3 EVC2 FGFR2 SMAD3 HDAC8 MTO1 ALG2 PRPH2 THOC6 SLC33A1 OTX2 TRIT1 RP2 P4HB CYB5R3 DHCR7 KLHL41 KMT2E SNAP29 TREX1 MAF GPC4 IL17RC NAB2 CEP152 AIFM1 TCTN3 SERPINC1 RECQL4 PEX16 POLG BEST1 SETBP1 KRAS TFAP2A PGAP3 GNAT1 NDUFA13 GRIN1 SLCO2A1 HSF4 SYNE1 KRT14 ERCC1 COX7B SLC18A2 GNA14 NEUROD2 ZEB1 POMGNT2 PRF1 SNCA COX3 ARSA POMGNT1 PIK3CA PUS1 CLCN2 MFN2 KRT81 ND1 HESX1 ALDOB SCN1A SLC45A1 LAMA1 SBF1 TMEM98 ZNF408 LAGE3 SLC39A8 COL12A1 LOXL1 DCX RSPRY1 BCORL1 DCPS TRIM37 SLC25A1 CDH1 PAX6 FKTN CYP1B1 LRRK2 SLC12A6 SEMA5A GBA ADAR GJB2 SMAD4 UBE3A MAP3K7 POLR3B RNF216 RB1 TAT TGFBR2 AFG3L2 DAB1 EED PEX6 FXN SMPD1 WFS1 ATF6 CACNA2D4 ANOS1 NF1 LTBP2 SPR SDHAF1 CDH23 IKBKG POMT1 BIN1 PROM1 DVL3 PLCG2 DMPK HEXA WDR48 POLG2 WDR45 DGUOK TRNS2 NDUFS4 FGFR2 CAPN1 HS6ST2 POT1 SIN3A CYP7B1 SYNJ1 PIGO SMOC1 TLK2 SDHD ARX POMT1 MIP CACNA1G GRIN2D PNPLA6 SRC FLNA TYROBP TMEM126A TYR ALOXE3 TNIK TTN PLCB4 HPGD SLC25A4 RIT1 PCNT CEP41 CRX TP63 ZNF423 NONO RGR MAP2K1 CCDC151 FDXR PTEN MEN1 HYLS1 NR2E3 MPDZ MUSK TPM3 PEX5 TACR3 UROC1 IGBP1 ATRIP CHST3 IL12B TTC21B SPEG ACADSB BBS5 COL1A2 NDUFA6 ATM ECEL1 NDUFA6 FGF5 IFT81 SURF1 CHRNB1 POLR1D LMOD3 MPZ CDCA7 KLHL7 TIMM50 KCNQ3 SLC9A7 PAX6 SLC52A2 FH GATA4 DPH1 KLHL40 SMC1A RPGRIP1 CEP164 FH COL8A2 PLCD1 PUF60 PNPLA6 TSEN15 BTNL2 SMARCB1 SLC25A24 SPART PRKD1 RAX2 CTNND2 BRAF DUSP6 OPN1LW GNB3 ELMO2 CACNA1A ERCC2 PDHA1 RUBCN TBC1D24 BBS1 FKBP10 TRPV4 ALG9 PAX3 POC1A CHRND PRPF31 MAP3K7 CCDC40 PNKP NDST1 FZD2 DOCK7 ABCA7 PIBF1 GLI3 EXT2 EOGT CHAT ARL6IP6 SERPINH1 AMMECR1 HOXA1 ELOVL4 LARGE1 NPHP1 PPP2R2B TRNK TBCE PHIP DYNC2I2 IL6ST GABRD TGFBI POMT2 PAX6 RSPH3 PRPH2 COG4 SMARCA4 TDRD7 AP3D1 ATRX LCA5 CHRNE APOA1 HYDIN KCNA1 GABRA5 P4HA2 NOTCH3 EDNRA ATXN1 BPTF TAT COL11A1 C12ORF65 PLP1 NUP133 PLPBP CENPJ TXN2 GUCY2D IFIH1 HYLS1 C8ORF37 PRKCD SETD2 KCND3 PIGG AARS1 NDE1 TGFB1 ABCC9 SCN1B ATP1A2 GNAS IDUA TRAPPC11 PRNP PLAA CRB1 SETX EPHX2 DNAH11 TYRP1 RD3 HACE1 CCDC47 SPAG1 FMR1 GJA5 LRAT PDX1 CNGB3 TNFSF4 FGFR1 FBN1 FGF20 EFHC1 KLF11 WRN PABPN1 LCAT CNKSR2 ARID1B SLC6A19 OPTN FOXH1 NXN SLC1A2 PWAR1 SYT14 GMPPB ECHS1 ADAM22 UGT1A1 CRYBA1 ATP6V1B2 WRAP53 SMC1A STAT3 DNAAF1 ZEB1 FGF8 CHRND LRP4 BMP2 MPZ EPM2A PNPT1 PRDM5 CP DBH FKTN LRBA TRNK RHOA SOX11 RYR1 KLRC4 CRYBA2 NDUFAF2 PIEZO2 KIF1A IFT172 HSD17B10 WDR26 PRNP HLA-B DCHS1 MCOLN1 NOD2 CEP290 COL1A1 DENND5A SHANK3 B3GALT6 FAM161A LIPH TMTC3 MGP FGD1 VSX2 CYP4V2 LTBP2 TSEN2 NF1 MAN2B1 GPC4 TIMMDC1 ATCAY GJC2 NDUFAF8 RAD21 MCTP2 CEP152 PIGN KIAA0586 COL9A2 PRUNE1 COG1 TFRC INPP5E TRPM1 ATXN1 SMCHD1 HBA1 MAPT KRAS PTPN11 SKI RBP3 PRPF4 LAMP2 ZNF513 MED13 FOXRED1 CCM2 GALC KCTD7 TRNQ B3GLCT NF1 EXT2 DHX30 CCDC103 CLCN7 GNPTAB SYNE1 GBA UBE2T HERC1 PRPS1 SLC24A5 AHI1 BNC2 PXDN TFG TRPV4 APOE SMC1A PEX1 EDN1 CHCHD10 SPTBN4 SOST ALG14 LRP5 FGF12 SLC19A3 CCND2 VLDLR EFEMP2 CP TFG PEX5 RBM10 TBX1 PREPL RFC2 SDHAF1 LCA5 RAF1 GGCX SNAP25 TSC1 MYORG CCNQ PROKR2 DVL1 PTPN11 CSTA FGFR1 ORAI1 GRIA3 TXN2 GORAB BBS2 CRYAA DSE KRT86 LYRM7 OPHN1 DDHD2 GORAB MLPH PEX13 TRNT1 TMEM70 AARS1 LRP5 TRNL2 GFER HBB TBC1D20 TTI2 TRNS2 PEX5 MAFB TNFRSF13C TMEM67 SHH SETD5 DVL3 TGFBI TNF IDS NDP ND5 CITED2 ITPR1 TIMM8A OVOL2 EPG5 EHMT1 ITPR1 MFRP CLRN1 CR2 HSPD1 POMT2 ELP1 B3GAT3 CARS2 ACTA1 ASPA MKKS SMPD1 MVK FLNA MFF ATP6 FOXE3 RNU4ATAC SLC25A1 GNAT2 BRAF POLR3A ATP1A3 FZD4 MTPAP NR2E3 PTCH2 B4GAT1 CCBE1 PPP1R15B GBA CCDC88C AIMP1 FGF14 MYLK ALDH3A2 PIGS DHDDS CLCN4 PDE4D NT5C2 EDC3 CNGA1 RUNX2 GMPPA GNAS GNAQ NEUROD2 PDSS1 MAGEL2 BMP4 GDF3 HCN1 SYT2 NDUFA9 SPRY4 MAP2K1 LAMB2 CNGA1 CRYBB2 DNAAF3 TPRKB POMT1 AFG3L2 GPC3 PGAP2 ND6 SMARCC2 MTMR14 NUP88 CLRN1 TTC8 PAX2 SEMA4A RSPO2 FANCE ATP13A2 RD3 YWHAE VAMP1 TMEM67 SCN4A FGFR1 CHST14 RFWD3 COL4A1 SHROOM4 CDH3 ZBTB20 PSAT1 TGFBR3 POLR3A TGFB2 ASPA HESX1 FTL CTNS NIN CRB1 TRNQ YARS2 SURF1 PDE6G ATP6V1A CDON INPP5K CHRNB1 CHD4 KLHL7 NOD2 KIFBP PIEZO2 IGSF3 COQ2 PHGDH CACNA1H NPHP1 HPS5 APOB PRPH2 RRM2B ATF6 ATXN3 SPEG CDH3 FH ADNP EXOC6B LONP1 SAMHD1 PEX26 GRIN1 SAG CA8 BRCA2 P4HTM SLC26A2 EIF2S3 FAM149B1 CHRND WHRN FIG4 GGT1 KRT1 B9D2 GTF2E2 ACOX1 AGTPBP1 FAM126A CASK MDH2 AP4S1 PRKAR1A LARGE1 TRNV KRAS MLXIPL ADAM9 CAPN1 CHD8 RNASEH1 PCLO FARS2 PEX12 GJA1 LAMB2 RPGRIP1L FREM1 PRRX1 NEK9 GNAI3 POMGNT1 UBAC2 DNAI2 PAK1 APOE DRAM2 TMEM138 MECP2 TRIM44 PCNA YME1L1 FKRP NAA10 NDP CHN1 IMPDH1 NSMCE2 VHL ATP6AP1 PEX26 SMARCA4 ALDH18A1 CHAT KCNJ6 SAG MOCS1 PEX2 TGFBR1 LRRC8A SHPK PLOD3 TLR4 PANK2 EZR HPS6 PSAT1 SOST STXBP1 MYOC FAM111B NKX2-6 NUS1 GPAA1 RAPSN MSTO1 PANK2 ARSG DYNC2H1 TBC1D24 TMEM216 PEX3 CACNA2D4 GRIN2D MPZ PEX14 GATA1 SC5D NYX SDHA RBCK1 GRIK2 RS1 LAS1L GDF2 NEK2 IMPDH1 DEGS1 IFT52 DHX38 FLNA PTEN ZMPSTE24 GM2A SOBP KBTBD13 RPGRIP1 UNC80 IL10 MIR204 SPR SHH TUBB4B COG5 NPM1 DPAGT1 SLC37A4 ND1 CEP78 FOXP1 DDOST COL4A1 DPP6 PTCH1 BRAF IARS2 CDC42 SKIV2L TTI2 VPS13A ARV1 RIN2 TCF12 COX15 LRMDA RP1L1 VPS13B GLI1 VLDLR DUX4 COL5A1 TTC12 CACNA1D MPZ ADAR LAMA1 TRNW ABCG5 BRPF1 FBN1 ARCN1 AFF4 ATXN8 ADAMTSL1 GATA2 SCYL2 CLTCL1 TERC NHS NSD1 ORC1 TRPV4 RB1 NKX2-6 TH LONP1 KRT17 TUBGCP6 SLC3A1 PAX1 SMAD3 MARS2 NDUFS4 ITGB3 PDE4D HNMT DNAJC19 PDE6G ROM1 ARHGEF18 SIK1 DAG1 WASHC4 TBL2 OTX2 RNF135 AHSG OPA3 CACNA1B OPA1 RBM8A PEX3 TERC HK1 FA2H TUBGCP2 RHO DRC1 TCF3 TNFRSF1A ARHGDIA EVC TULP1 TRNS1 CEP290 GATA3 KNL1 TMEM240 AIP ELP4 IQSEC2 GATA6 FBN1 GNAT2 WNT10A GRID2 PITX3 IMPG2 SUFU BEST1 MUSK CCDC114 BLOC1S3 TECR HYMAI SMAD4 CPLANE1 FLVCR1 PHOX2B USB1 ZMPSTE24 KDM6A GLB1 MFRP PROM1 SPATA5 VHL POLA1 GUSB CRYBB2 COL3A1 CD96 COL2A1 CIT WDR81 BAP1 SMARCAL1 CTBP1 BEST1 FRG1 IL17F AMMECR1 ARHGAP31 TCOF1 MVK COX1 XPA FGFR3 RAB3GAP1 ERCC3 CLP1 UBE3B CASP10 KCNJ11 CLRN1 CC2D2A FGFR2 ECHS1 NDUFAF1 NDUFV2 UCHL1 EGR2 DYNC2LI1 PKP1 SLC52A3 PCYT1A STAT3 SCN8A NSD1 FGFR3 FGF17 PUS7 GRHL2 SCN8A KMT2A ADAMTS18 WDR35 WWOX CEP41 BGN RAD50 GFPT1 NDUFS3 BPTF NUP133 SEC23A KIF1A NUP62 ELOVL1 KCNK4 GALK1 CCDC174 FGFR1 TEK USH1C DNMT1 HESX1 PCYT1A NT5C2 ICOS PDE6B ZC3H14 CEP57 FGFR3 SMCHD1 TRNT XRCC4 CAMK2B ESS2 GNAS BCOR ABCA4 BBS2 ESCO2 TCTN2 MRAS FGFR1 MITF FSCN2 GLB1 SUFU GNRHR BCOR ND4 KMT2D BBS4 ABCG8 HGSNAT SERAC1 COL2A1 BUB3 DDX3X ARL3 SALL2 ATRX FOXC2 H1-4 ARSA SQSTM1 PLP1 CABP4 RAX2 GLA FANCI FGFR1 FA2H PEX7 LYST MTPAP NDUFV1 DDHD2 FAR1 TEAD1 RAB18 WDR45B EDNRB MYH3 SLC25A11 ARSA IQCB1 ITCH MPL GPR179 FBXL3 MYO9A MMP1 IGHM TGFBI SOX9 FGF8 SALL4 MTTP GHR DGUOK LZTFL1 SRD5A3 COLQ NHLRC1 MAGEL2 ANKH LTBP4 ACTA2 CLPB KIAA0586 CTC1 SH3PXD2B TWNK TARDBP NDUFS2 SH2B1 PLA2G6 KITLG PRDM12 RAB3GAP1 KIF2A WIPF1 DLST COX6B1 CHEK2 RPGR SLC9A6 RAF1 LRRK2 FGFR2 COX14 TRNW ATP7B EP300 DNAL1 ALG13 BAP1 B3GALNT2 CAPN5 KIF14 SPG7 ITPA SIN3A CACNA2D2 COL4A3 AP1S2 FRMD4A WDPCP GABRA1 HESX1 PCDH15 FKTN KLC2 PIGP WAS RLBP1 CRPPA DOK7 NDUFS6 ZFP57 FGFR2 IL23R ATP6 DIS3L2 DCHS1 FOXP1 ITGA3 NDUFV1 PEX5 L1CAM TGFBI ERLIN2 DNMT3B DMPK BTD ADAR BCR MRPS34 PCK1 IFIH1 ATP5F1A CARS2 SOX10 STT3A ERCC2 MN1 CTSA DIAPH1 DCC OPA3 SMCHD1 SOST SLC25A1 FGFR3 HBB IQSEC1 FKTN MEN1 ATRX CRPPA CC2D2A TPM3 MAST1 EZH2 NALCN AKT1 RRM2B DNMT3A RAB18 C8ORF37 ADAMTS10 CHRNA7 ND4L MAD2L2 ZMPSTE24 MED12 RP1L1 WDR19 ERCC4 PPP2R1A SPART SLC2A1 APC TRNL1 GUCY2D GJA8 HDAC6 RAF1 TANGO2 DYNC2H1 PRDX1 KCNMA1 DGCR2 ALPL SLC18A3 CHRND CHSY1 KIAA1109 NEK1 HECW2 PCARE RYR1 USP7 BDNF HUWE1 ARX PTEN APOA2 PIGN RPL10 COL5A2 RIT1 JAG1 TUBB FTL XYLT1 TCF4 TNFRSF11A UBIAD1 CYB5R3 GFPT1 FAT4 ERCC5 KATNIP GJB1 LRP4 NUS1 ERCC4 KIF1B ARHGEF18 NR2F1 DNMT3A PALB2 SEMA4A NDUFS7 FGF14 PDE6D SIX6 ITPR1 PLEC ASNS COL13A1 PRDM5 IMPDH1 SH3TC2 EIF2B3 CHCHD10 VHL TUBB LTBP2 NLRP3 CNGB3 SC5D APC SDHB RAB28 CDH3 STRADA GBA2 EIF2AK3 PMS2 WNT10B ABCC6 TACO1 SMARCD1 COL6A2 TGFB3 TRNF RPS6KA3 ALMS1 PDE6G CCDC28B MSX2 RGS9BP PIGL CDK5RAP2 QRICH1 SYNJ1 ISCA1 VHL FGFR3 TUBB3 PRDM16 RGS9 B4GALNT1 MANBA TBCK GMNN IFT52 IBA57 OFD1 UROS SPG11 SLC9A6 GDNF MBTPS2 COG4 RREB1 HOXA13 GJB6 SELENON TSHR STT3B PODXL LBR PAH TUBGCP4 XRCC1 WASHC5 SMPD1 RFT1 PEX3 TMEM216 FAT4 PITX2 TMCO1 VAMP1 ACTB HTRA2 PEX19 PEX1 ITGA2 SEM1 SPATA7 POMK NXN BBS12 MKS1 GLRB LOX IGF1 FBLN5 COA8 PDE6C MAN2B1 PPT1 ADGRG6 KCNJ11 SMARCB1 RECQL4 COQ8A TAB2 PSMD12 SLC25A24 COL17A1 PDYN DISP1 LDLR RDH12 SOX10 GNPAT AEBP1 COX10 FBXO7 DNAI1 GLI3 ADAT3 SEMA4A ATP6V0A2 BCL11B EEF1A2 EDN3 GLI3 FGFR3 CYFIP2 GRM1 PIK3CA TBC1D24 ATIC CCBE1 DOCK7 SAMD9L WT1 MKS1 WDPCP TRAPPC2L PCYT2 EXOSC2 GNAT1 FGFR2 EARS2 FOXE3 TBX4 UBR1 EBP GP1BB REV3L CHRNA1 COLEC11 ERF MERTK MIPEP ICOS ERCC1 ENTPD1 RAD51 GALT CERT1 SLC16A2 USH1C NLRP1 PEX11B OCA2 EYS COL3A1 TERT SLC17A5 ADAT3 LIG4 IDUA IFT27 TWIST1 WDR19 RPGR VAMP1 KLC2 FGFR2 TGFBI POLR3B EXT2 SMC3 SLC2A1 HRAS TRNN TBK1 ERF MAP2K2 FREM1 NDUFV2 ESCO2 LOX PROM1 CRKL CDK4 CACNA1E RTTN PALB2 TMEM106B COLEC10 HOXB1 ELOVL4 TGFB3 B3GALNT2 CBS PIGO TCOF1 DOK7 TUBA3D TBX22 COL4A1 CENPJ RLIM ADAMTS3 APC PIGL ACTB PUS3 CDH23 STAT4 NDUFS4 FOXC2 OAT IBA57 GLI2 PRPF6 TMEM67 GJB2 TBL1XR1 MPL USH2A MLH1 RP2 RPGRIP1L SETD5 COL11A1 MYL2 CCDC22 IFT172 APPL1 GFPT1 IGH TKT PRPS1 KIF11 FOXC1 SACS TINF2 WNT5A COL6A3 NMNAT1 RPE65 PPP2CA PRNP CNTNAP2 BTRC KDM5C PEX10 FLRT1 ACY1 SLC16A12 COL11A1 DHCR24 DHX37 PIGW TTC25 PMP22 CANT1 CACNA1A MTFMT HSD11B2 NDUFB9 RNU12 PDE6B ITGA8 RNASEH2A ZNF513 TGM5 POLR1C KCNA1 COL2A1 TPM2 CLCN7 SMARCE1 FAS CNGB3 TP63 ANKRD11 CACNA1D WDR19 NDUFB11 ANKLE2 RAI1 LACC1 GM2A FTL APOB HSPG2 MAB21L1 RNASET2 TBCE FAT4 SLC30A9 ANTXR1 KDM6A NUBPL SNX14 PIGY NDUFS1 LIPT1 SOX3 HTT PDX1 PSAP ND1 PAFAH1B1 CD79A SURF1 PRPF6 IMPG2 FGFR2 MAPRE2 AMMECR1 CCNK SLC6A9 ARL6 CYSLTR2 PRPH2 TPP1 KIT NADK2 GSS CEP55 TWIST2 IFT27 ATR TH CHRNG TRNC TSC1 FGFRL1 FUT8 DPYD PAX3 ALDH18A1 DTNBP1 TBX1 CHST3 C19ORF12 SYNJ1 RUNX2 JRK BTK ADD3 ZNF408 RSPH4A CHRNA1 ZNF592 TRAK1 PPP3CA KANSL1 NDUFAF8 CABP4 ERCC8 PLG TBX15 SLC5A7 CTNNB1 PHGDH USH2A HRAS TWIST2 CCDC65 IMPG1 TRIP12 CLRN1 TP53 NLRP3 NDUFS2 SPECC1L ATXN3 RARS2 GJA1 KERA SYNE1 ITGA8 CYBC1 SCN4A CA2 TBCD SLC4A11 GNAQ MYD88 COL13A1 ZC4H2 PEX1 SFXN4 ALG3 GCH1 OTX2 SIX3 PIK3CA PABPN1 UBAP1 WWOX LMNA MYF5 PLAGL1 RHO NTNG2 FMR1 NADK2 PITX2 RPGRIP1L NOD2 DLL4 RERE ROBO3 CDH3 NDN MAPK1 GCK MASP1 CTU2 MYH8 CRYGC MBOAT7 CNGB1 HNRNPH2 SELENON TRNS1 COL13A1 UBR1 TRIM28 MICU1 SCAPER IFT140 PUS3 SLC18A2 TSPYL1 C2CD3 TNFAIP3 RAI1 TNFRSF11B GUCY2D PLEC IGF2 HLA-DPB1 COL27A1 GLRX5 DHDDS CDON FARS2 DPP6 ASXL3 HNRNPDL CSPP1 SOS2 TWNK ARSA TRNH XYLT2 PIGV HGD GDF6 RPL10 DARS2 MYO9A PEX14 GNA11 GPT2 AP5Z1 ERCC4 DRAM2 DMXL2 INPP5K CFAP410 CDH11 FAR1 ADAMTS10 TPP1 GTPBP2 ACTA1 REST PEX12 FOXC1 SGPL1 RBP4 CRYAB TWIST2 BBS10 ZNHIT3 DHCR24 ACD STN1 GCDH ALOX12B NSDHL RAB3GAP2 NDUFAF5 NDUFA12 ZBTB24 CHST6 NSD2 LMNA FRMPD4 LMNA PDE6D NECAP1 SCN4A MTOR POMK CLN6 NHS SLC25A15 FUCA1 ROBO3 COA3 G6PC HESX1 STIM1 SYCE1 SLC25A46 ARL6 PRSS12 ABCA4 AP4B1 FGF3 CRB1 CTNS ZBTB24 STXBP1 SYT1 NMNAT1 GJA8 TBX1 MFN2 CLP1 NSUN2 DNM1L PAX2 WT1 GJB3 TYMP DDR2 NDRG1 PTF1A LMNA COL7A1 ITCH BAP1 ST3GAL3 BRCA1 PRTN3 EMC1 CSPP1 WDR35 CCDC115 WDR81 TP53 PROM1 ZNF469 ZEB2 IDUA IMPDH1 TCTN2 SLC35A1 HMCN1 PROKR2 KCNA2 ETFDH PRCD COX15 FGFR2 MUTYH SLC24A1 SON RYR1 ATP8A2 TCTN2 FGFR2 SLC25A24 ALX4 FKBP14 FBXO7 AHCY KDM6A WDR19 FAT4 TUBGCP6 LCAT KCNQ1OT1 FGF17 CFAP410 PIK3C2A NTRK1 RNASEH2C NMNAT1 CACNA1F RAB3GAP2 IL17RA C8ORF37 CDKL5 BEST1 TTN NSD1 ERCC2 EFEMP2 OPN1LW BUB1 IMPG2 AP1S2 ARL6 TKFC DNAJC12 COX20 FRMD7 TGM1 CDKN2B UMPS SOX5 INTU BBS9 LAMA3 COL1A1 CCDC22 PEX3 TPM2 IPW H19-ICR PTCH1 DOCK6 HSD11B2 SON AHR COL7A1 ABCA4 ZIC1 MTM1 FKRP BRAF RASA1 OPA1 CEP120 RSPRY1 GBA TRIP4 KLHL7 PHGDH PPP1CB ADRA2B HNRNPA1 ATP6V1A DLG3 SLC1A3 RANBP2 TRPV4 SURF1 CYTB ACTL6B TBX22 IFT74 ALG11 CDH1 CD19 CSF1R TREX1 TOP3A PDE6C HADHA PYCR1 IGHM COL2A1 EMC1 PET100 COL1A1 NAGA BBS7 PTEN ABCA1 GNE GRK1 GLI3 MAPT TNFRSF11A INSR CASK PAX6 ATP1A3 PDCD10 DSG4 HSPG2 RFT1 FBLN5 NEB PROS1 SCAPER TMEM231 BEST1 CRYBB1 FLNA CTDP1 FKBP14 WARS2 COL2A1 MYO7A TCTN3 RLBP1 ZNF148 ARL2BP COL11A1 FRAS1 PEX10 BLK EDNRB PTPN22 HIBCH SDHC FANCF NTRK2 LEMD2 SLC2A1 PIK3R5 ITM2B TGFB2 COX3 HYLS1 GABRB1 LAMA2 TCTN2 SPRED1 TCF12 PITX3 ZIC2 SNAI2 SLC7A14 NLRP3 KAT6A POMGNT1 CTNNB1 RAPSN SPEF2 SUCLA2 CCND1 NRL NIPBL YY1 DCPS SLC2A10 RSRC1 KIF1B CA8 GJA1 KRT74 RUSC2 ALDH18A1 GRIN2A INS TNFRSF1A PHOX2A TWNK TRAF7 PIGN EYA1 FGFR1 FGFR2 SCN4A AIFM1 CYP7B1 FGF3 ATP13A2 CRYBB1 PRKCG BIN1 PRPH2 PREPL ACTA1 EPAS1 PTDSS1 SPECC1L DOK7 AMPD2 TAPBP ANO10 NOTCH2NLC RTEL1 PROKR2 KCNQ2 WAC ABCA12 NIN CBL HACD1 TRIM8 POMT2 MMP14 SLC29A3 PNPO TRNN HERC2 SCO2 CNGB1 TSC2 AGBL1 HARS1 ND4L CEP290 ZNF423 NDUFAF4 DPF2 SYNE1 DACT1 CRYAB AIMP1 TWNK SF3B1 CACNA1A PROP1 GNE SMOC1 TERT ACVR1 KLLN WT1 YARS2 SYT1 TRNF GAS2L2 XPA SORL1 LMX1B CEP83 RPGR ALX1 GJC2 OCRL IDH3A RASA2 DHCR7 RBP4 TK2 B9D2 SPTBN2 COL12A1 RASGRP1 RHO ZBTB16 LDLRAP1 NDUFA1 NRXN1 IGBP1 SH2B3 PRPF3 TMEM237 KIF7 IBA57 KIAA0753 GNB1 KLF13 LARGE1 RLBP1 CHRNE NOTCH3 ACER3 TSPYL1 TKFC POMT2 ATXN10 THRA FOXC1 ANKRD11 KDM1A GJA8 JRK TRAPPC9 CRLF1 IFIH1 NOP56 LIM2 GNB3 LRP5 EBF3 MPDU1 MOG SDHA XYLT1 WDR4 RS1 PAX3 PACS1 TP53RK PTPN11 PRSS56 TIMMDC1 PLOD1 SET SLC1A3 PPP3CA AP4E1 WHCR COL1A1 MAPRE2 TWIST1 ELOVL4 NLRP3 METTL23 CIB2 FLNA HCCS TREX1 DCTN1 ROM1 BRIP1 IFT88 FERMT1 PRRT2 VAC14 KIF1B SIPA1L3 ESPN PIK3R1 PEX16 USF3 CCNQ IFRD1 EFNB1 ATIC PRX FXN B3GALNT2 PEX3 PYROXD1 CD109 EIF2AK3 PSAT1 ENG SKI TUBGCP4 GLE1 IDUA FOXC1 UROC1 PRPF31 KRIT1 ABCA4 CLEC7A MRE11 DKC1 SLC6A20 AGRN GATA1 DLX5 PDE6A BLOC1S6 TET2 DNAJC6 HBA2 FUCA1 GABRA3 PROKR2 MICOS13 FGFR3 SLC6A8 TRNS1 KCNJ13 SLC13A5 ARID1B PTEN SLC38A8 SOX9 SPTBN2 TACSTD2 GPC3 SLC36A2 KISS1 NDUFV1 OSTM1 NEB CTLA4 NEFL KIAA0586 OVOL2 ATRX ADSL BOLA3 MTFMT STS CBL TCF12 APOE TTC37 CRX OPA3 SMO CHD7 COLEC10 HSPG2 COX7B MTRR PAX6 PPIB TUBA8 HLA-DRB1 NFIX PROC MSH2 IL6 POLG2 NCAPG2 CDH23 GDF3 AGRN GAS8 DGCR8 AK9 LMNA SRD5A3 TRIM32 MTHFS GIGYF2 TCF4 FTL AKT1 TRNK POC1B TRNL1 HPS3 DYNC1I2 HRAS SETBP1 HIBCH SLC35A2 TFAP2A L2HGDH TSPAN12 KCNH1 PDGFRB SEMA3E PIGQ CHST14 CHRND INPP5E GATAD2B UCHL1 HDAC8 COL6A1 TRNW CLDN16 PEX10 NEK1 ESCO2 COL7A1 GABRG2 CACNA1B AGBL5 WRN CERS3 DVL1 TIMM50 BRAF POU6F2 NEDD4L C4A OFD1 CASK ALDH18A1 FLCN SLC39A8 SCN8A MMACHC GUCY2D BCS1L PSMB8 FANCA KLHL7 DGCR6 OPN1MW WFS1 TRAPPC11 NCF4 CYP1B1 PNKP RAB23 COPB2 VARS1 COG4 ALDH18A1 CHD3 TAF1 XRCC2 CRB1 TMEM67 WFS1 ASCL1 KRT71 TENT5A NKX2-5 CDON TRAPPC11 SSR4 BCAP31 CRTAP KCNV2 ZSWIM6 SUZ12 CPSF1 PIK3R2 ACTL6B GATA6 SUFU ERCC4 ALX4 OFD1 ATAD3A HSD17B4 USH1G MBTPS2 ND5 LARP7 NDUFS8 FAS FGFR2 MYH3 GPKOW PIGY SCN4A CTNNA1 SMARCD1 BAP1 FANCM ETHE1 DHDDS NTRK2 SNX10 TUBB4A ERCC6 NKX2-5 GPC4 RNF13 PRKCG MKS1 COL1A1 PLD3 DGUOK DNMT3B ARMC9 ANKH CNGA3 POMT1 MAP2K2 SNRPN PHF6 CLIP2 ALX3 ERCC2 POR IFNG GABRA1 PEX11B CLCN7 SLITRK6 PLEKHM1 WDR36 PLAA MAFB GJC2 GPC4 NDUFS2 FREM2 APC MYO7A NEU1 KDM5B GTPBP3 NOTCH1 PDSS2 CEP78 HIRA DKC1 NR2E3 SLC45A2 AKT1 CDHR1 PLA2G6 RNF125 BEST1 CPLX1 WFS1 TGFBR1 DVL1 ATN1 GNAO1 TRNF DYNC2I2 RPGR LRP5 SOS1 CYP24A1 RERE DNAJC6 IRF2BPL DNAJB13 TBC1D24 GJA3 MAPT HLA-B SDHD WNT3 EEF2 PROKR2 TRNL1 NAGA DDB2 PAX4 PEX26 FGD1 ERLIN2 OPN1SW GDF6 ANAPC1 NDUFS1 HNF1A CIB2 FBN1 ND3 MYH3 TGFB1 KIDINS220 TGFBR2 CEP164 PIK3R1 SBF2 RP9 SOX10 PITPNM3 CD247 ND6 PWRN1 CYP1B1 MED12 KIDINS220 TWIST1 COL4A1 NOTCH3 CCNO AGXT PIBF1 LAMB2 PLEC GPR179 BBS10 DNA2 NDUFA4 CRBN PROC KCNQ1 TPM3 EIF2S3 IGF1R PGAP1 PEPD PDHA1 LYST AP5Z1 KDM5B GCK ALG8 ATP6V0A2 ERBB3 DNM1L AMACR ADA2 DLAT PMM2 RET ITGB6 NSMCE2 TRNL1 POLR3A PEX16 HSPD1 TUBB6 FGFR1 ARMC9 GNB5 ND1 CHST6 EFEMP1 PIK3CA RNU4ATAC RAB3GAP1 OAT CHRDL1 PIKFYVE CHRNA1 MASP1 SCN3A AMACR PSAP ATXN10 NPHP1 IFT172 NDUFB8 SLC1A4 VHL NGLY1 PPP1CB KRAS MITF SNAI2 SALL4 TRAPPC11 BEST1 ERCC5 BRCA1 HHAT CPLANE1 CFAP221 RNU4ATAC B3GALT6 KIF7 SDHD TBC1D24 GGCX B3GLCT RAI1 SALL1 STK36 MEF2C BBS5 IDH3B MFRP PUF60 WASF1 MSTO1 LMNA MEF2C NHP2 MALT1 SDHD GALC TXNL4A HS6ST1 PSAP TWIST2 LAS1L ALDH18A1 NME8 TRNE ND1 UBE3B GRID2 COQ2 NAXD COX10 NACC1 FKRP LHX3 SPAST PNPT1 CHSY1 BTNL2 PDE6B BCL10 PRKDC FBN1 PDGFB ADPRS ALG9 KCNJ13 FANCC GDF3 PDCD1 TBCE ACTA2 OPA1 TMEM107 TCTN3 COG1 NFASC P3H1 GNAS TBX15 IKBKG PRKG1 MUSK MARS2 BFSP2 NHLRC2 KCNJ2 RPGR HADHA FANCD2 LARGE1 SCN9A TCIRG1 AFG3L2 ZIC3 PRPF8 SCN9A SLC39A4 POLG MFN2 USH1C MAK IL11RA CERKL WDR11 GCH1 GBA2 TWIST2 HTRA2 TMEM240 BAZ1B EXTL3 ARL6 PCSK9 CHN1 UBA1 PTH1R POMGNT1 GK MARK3 BCOR HTT THRB POMT2 L1CAM COL4A5 BCAP31 ACTB TP63 NONO COA8 ACTG1 MYH7 CLPB THSD1 EFL1 CASK ARID1B NPHP4 TREM2 JAG1 BAP1 MMUT ZNF408 SOX10 COL9A3 SRD5A3 CDK8 ZIC1 ZIC2 ADAMTS17 IFNG SDCCAG8 SCN4A CFH MED25 PAX3 DYNC2I2 KIF15 GATAD2B RNF113A GNPTAB PSEN1 ACTG1 RNU4ATAC IRX5 PTPN2 ZNHIT3 ZBTB20 NHS PIGL SEC23A PIK3R2 AIRE INS AIRE TYR CRX PRPS1 PIGV STXBP1 ERF FMR1 SQSTM1 TXNL4A COL1A2 IFT43 AKT1 SCP2 AAAS NFIX GBA PACS2 DIS3L2 KRAS DNAJC19 RNU4ATAC CDHR1 ARL13B SEC24D ALG1 NDUFA1 BBS2 NKX3-2 C9ORF72 NDUFA11 TNFRSF13B CASR CHM RIMS1 TBCE FLII MFSD8 JAM3 CHRNA1 C12ORF57 FGFR1 MC1R CHP1 B3GALNT2 SNORD116-1 MYOD1 NSMF BBS1 NDUFA9 TOPORS NDUFS2 CRYGS CRYAB OPA1 TSC1 EDNRB RPGRIP1 ALDH6A1 ATP2B2 SLC40A1 ATP6V1A FBN1 FHL1 CTCF RBBP8 C8ORF37 BAP1 PDXK DLD ARL3 MAN1B1 LRAT PEX7 ADK SLC20A2 TBCD TP63 AFG3L2 SAMD12 NACC1 PAX6 ATXN7 SLC25A22 WDR73 ATP6V1E1 CSPP1 FANCA SUMF1 MUSK OTX2 OFD1 P3H2 DPAGT1 CLDN19 COL11A1 CNTN2 POMGNT1 PSAP GUCA1B POMT2 ZC4H2 SLC4A11 ALS2 B3GALT6 MCOLN1 STIM1 SLC19A2 CFHR3 RPS19 PEX1 PDZD7 LAGE3 UBA1 TBL1XR1 FEZF1 SUFU TP63 PHACTR1 SLC16A2 GLE1 SLC39A14 DNAJC13 TMEM231 TTR MPLKIP LRP1 RTN4IP1 BIRC3 STS PCDH15 WDR35 FBN2 FANCL ATXN8OS DDX59 ND2 COL9A2 EFHC1 SUOX KCNJ11 ARX MYO5A MAP3K7 PEX7 LARGE1 KIF11 IFT140 IL12A-AS1 LSS MKS1 STAG1 MLX FGFR2 PDYN CPLX1 ZNF644 MED13L PORCN MRPS14 THPO NGF ARL3 CTNNB1 MMP14 FBN2 TRNT1 GFER MAPT DBH IFT43 ADAM9 ALG2 TRNK CACNA1F DYRK1A UFM1 PCNA BRAF GDF5 DNM1L PET100 HLA-DQB1 AEBP1 DDX59 SLC17A5 ZSWIM6 EVC TGM6 PEX6 ACVRL1 TELO2 KIF1A CYP1B1 COL2A1 MPV17 NR2F1 FIBP TAF2 RGR SNIP1 SCO2 NDUFS2 NDUFB11 PLK4 SLC25A22 CLIP1 PSEN2 CACNA1G MMP2 SPG11 USP7 VPS33A POLG RGS9BP NF1 FLI1 GAS1 FASLG COX3 FANCB LMNA FAM20C C2CD3 CHRNE ROR2 LDHD SDHA COL2A1 MEGF8 UNC80 AP3D1 PEX1 ARVCF FBXO31 MED25 CRX CKAP2L INVS NFKB2 MITF KIF5A KIF7 TGIF1 TRIM44 CNNM4 DONSON FOXRED1 PRRT2 IQSEC2 COL4A1 TNFSF11 SZT2 NOG ADGRV1 SDHC RBPJ AAAS ARR3 CREB3L1 NDUFAF4 CEP290 CISD2 CACNB4 TBX2 RNASEH2B TRAPPC2 VAX1 IL1RAPL1 GMPPB NOG TBP PTCH1 MAF STUB1 ND5 HS6ST1 USB1 PEX16 SLC2A1 STAG1 HADHA PRPH2 TRIM32 OPA1 MYH11 PYCR1 CTNND1 TBC1D23 TTC21B RBM10 CFH GPR143 PORCN MYH9 NKX2-5 RET SLC52A2 GSN PRSS12 PEX19 CDKN2A IQCB1 PSMD12 C12ORF65 SIL1 GABRG2 NOTCH3 GJA1 PAX6 KRT16 MID2 NCF2 SLC39A13 MEIS2 FOXC1 DPM1 PRPF8 FOXP1 DPAGT1 SOX10 IQSEC2 RNASEH1 SPINT2 PDGFRB ERCC4 ACOX1 NDUFS8 ND5 STIM1 PNKD ELN MSMO1 PMPCA FGFR1 KCNMA1 SZT2 PEX6 FBLN1 CHRNE GLB1 JMJD1C ST3GAL5 TCF20 GRIA3 ZBTB18 RPL5 ZBTB18 CEP120 SPG7 NLRP3 OSGEP FLNA ASPH MED13L AUTS2 TRIP13 PSAP GRM6 SIX1 AP3B2 SMS YWHAG NRL NAA10 POLR1C TIMP3 COL1A2 TRNH SDHB SLC19A3 SCO2 BUB1B CLDN10 FGF9 GDF6 ITPR1 CDH11 PTPN11 SOX4 GNPTG SIX2 TGM3 TRNS2 MTMR14 NDUFAF2 DNM2 NDP RMRP ARID1A CSNK2A1 NTF4 USH2A TCTN3 C1QTNF5 SETD5 TMEM67 CPT2 PYCR2 TK2 TRNW SOX2 TBX1 TUSC3 RECQL4 KCNJ6 HNF4A SLC52A3 CFL2 CRYAA DCN NDUFA2 TUBB2B SATB2 ALG6 TRAF3IP1 P2RY11 CEP290 TSEN34 RXYLT1 CNGA3 TMEM67 KCNJ18 AHDC1 FZD4 NGLY1 ALX4 SEC24C ALDH18A1 IFITM5 NSUN2 IMPG1 MAX ATP6 TMEM107 CEP250 PRPH2 FGFR2 FGFR2 SLC2A1 RGS9 HADHB IMPG2 B9D1 NOG PRMT7 COL7A1 PITX2 XYLT1 RB1 SLC25A4 SYNGAP1 CLRN1 CHRNA1 MEIS2 LRAT ALG8 ABCB7 SNRNP200 CYBA SHANK3 TTLL5 GDF1 NDUFAF5 CTSD ASB10 PNKP TMEM237 NOTCH2 NAGA SMARCC2 SDHAF2 STAG2 SMO NTRK1 PGK1 ALG2 IL2RB TGFBI PARS2 SMG9 HERC1 ARV1 VPS13D CRB1 SETBP1 GCNT2 TMEM127 TTC7A PLEKHG2 NIPBL NF2 GTF2H5 GMPPB RPGR CA4 PHYH CAV1 LRRC8A YY1 RRM2B COX1 PEX26 DYNC2I1 PIEZO2 PEX5 ACVRL1 ARL2BP HSD17B4 TUBG1 INTS1 LMOD3 RPGR AKT1 IL17RD SCN2A NPAP1 FGFR2 SNX14 TRIP13 MIR184 CNOT1 HTT RAG1 TP53RK SALL4 EPHA2 CFAP300 VARS2 RIPK4 PRPF3 ABCA12 PAX6 SMC3 MFN2 PRNP CLN8 ALDH18A1 TTC37 FARSB LRP5 DLX4 NPC2 RERE SELENOI NRXN1 PAX6 ACTA1 ZMYND10 RHO GPAA1 TMEM67 CLN8 TAF1 RDH5 PDZD7 RBBP8 TRIP11 KCNJ11 LZTR1 COL3A1 FREM2 SALL1 CST3 ATP6 CYP27A1 IGF1 CYB5A IKZF1 PEX13 WNT1 UGDH POLG LMX1B TPM2 APC GAN SARS1 NEK10 PRMT7 LIG4 UBE2A SSR4 APOC2 SLC2A10 RPS6KA3 MAP2K1 EXOSC3 CC2D1A LPAR6 DNMT3B PCNT PDGFB PTEN ND1 CEP120 GJB6 RDH5 ABHD5 NDP AHI1 SLC45A1 CHM ZIC1 SERPING1 EIF2B2 KIF1C ITGA7 NDUFB11 TRNK HLA-DPA1 FBXO31 SLC25A4 RARB ABCC8 AP3B2 PRKAR1A SLC25A13 TCF4 HLA-A CNBP RDH11 PRPS1 DVL3 TRAPPC9 SHROOM4 NLRP3 GRM6 MAF ADNP LBR MKRN3-AS1 AASS TANGO2 SPATA7 NRAS WNT3 ATP6V1A FANCD2 SNCA ETFB AGK SBDS TUBB2B FAM149B1 NEFL GDF6 CLCN4 ACADS COX2 C8ORF37 PANK2 GTF2I MID1 KLHL41 FLI1 GNAS AGBL5 BMPER RAPSN ATP13A2 ALDH5A1 DNASE1L3 KCNE5 THOC2 FKRP KRT83 DARS2 FGFR3 ALX4 RORA PEX6 ST14 KREMEN1 ABCB6 COL9A1 TP63 LTBP2 SH2B1 DDX58 EZH2 STAC3 IDH3B SLC29A3 NF1 SOX10 TINF2 TSEN54 TUBB SCYL1 AHI1 ATAD3A TENM3 CEP290 HLA-B CDCA7 LAMC3 TRNL1 HERC2 PAX6 GLI2 ITPR1 PTPN22 TWNK BBS4 EBP COL7A1 MKRN3 DARS1 CNBP SDCCAG8 GLRX5 USH1G GABRB3 BIN1 ABCD4 HPS1 PROK2 PRKN CAMK2G CLCN2 SIM1 WASHC5 SAMD9L LPL NEXMIF SLC12A3 PHF21A CYP27A1 ARNT2 ABCA2 HNRNPU FIG4 FANCC GFM1 GABRB2 HLA-DQB1 ERCC2 LRIT3 NAXE SIK3 POLD1 SDHB TMEM216 PEX14 MPDU1 YEATS2 FLNB SUZ12 IGF2 CEL RDH11 GJA5 SDCCAG8 SETX ND2 PTH1R POLH KCTD1 FSCN2 HADHA ZIC1 TCIRG1 SEMA3A AP1B1 LYST MITF LMNA TMEM231 DAB1 CDH23 WWOX LHX4 ZDHHC9 BTK ELN TELO2 MAN1B1 SNAI2 STAC3 FLNA COL2A1 FLNB POMT1 KRT6B TEK MAP3K20 PLA2G6 PGAP3 KLHL41 FOXE3 MKS1 MYH11 ACTB SNAP25 ALG13 AP1S2 PUF60 FDX2 LARGE1
Protein Mutations 1
P23H
SNP 0