SNPMiner Trials by Shray Alag


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Report for Mutation G71R

Developed by Shray Alag, 2020.
SNP Clinical Trial Gene

There are 2 clinical trials

Clinical Trials


1 A Phase I Clinical Trial to Investigate the Correlation Between UGT1A1 Genotype and Irinotecan (CPT-11) Pharmacokinetics and Toxicity in Cancer Patients

Phase I trial to study genetic testing and the effectiveness of irinotecan in treating patients who have solid tumors and lymphoma. Drugs used in chemotherapy use different ways to stop cancer cells from dividing so they stop growing or die. Genetic testing for a specific enzyme may help doctors determine whether side effects from or response to chemotherapy are related to a person's genetic makeup

NCT00003970 AIDS-related Peripheral/Systemic Lymphoma AIDS-related Primary CNS Lymphoma Anaplastic Large Cell Lymphoma Angioimmunoblastic T-cell Lymphoma Extranodal Marginal Zone B-cell Lymphoma of Mucosa-associated Lymphoid Tissue Intraocular Lymphoma Nodal Marginal Zone B-cell Lymphoma Primary Central Nervous System Non-Hodgkin Lymphoma Recurrent Adult Burkitt Lymphoma Recurrent Adult Diffuse Large Cell Lymphoma Recurrent Adult Diffuse Mixed Cell Lymphoma Recurrent Adult Diffuse Small Cleaved Cell Lymphoma Recurrent Adult Hodgkin Lymphoma Recurrent Adult Immunoblastic Large Cell Lymphoma Recurrent Adult Lymphoblastic Lymphoma Recurrent Adult T-cell Leukemia/Lymphoma Re Recurrent Cutaneous T-cell Non-Hodgkin Lymphoma Recurrent Grade 1 Follicular Lymphoma Recurrent Grade 2 Follicular Lymphoma Recurrent Grade 3 Follicular Lymphoma Recurrent Mantle Cell Lymphoma Recurrent Marginal Zone Lymphoma Recurrent Mycosis Fungoides/Sezary Syndrome Recurrent Small Lymphocytic Lymphoma Small Intestine Lymphoma Splenic Marginal Zone Lymphoma Stage III Adult Burkitt Lymphoma Stage III Adult Diffuse Large Cell Lymphoma Stage III Adult Diffuse Mixed Cell Lymphoma Stage III Adult Diffuse Small Cleaved Cell Lymphoma Stage III Adult Hodgkin Lymphoma Stage III Adult Immunoblastic Large Cell Lymphoma Stage III Adult Lymphoblastic Lymphoma Stage III Adult T-cell Leukemia/Lymphoma Stage III Cutaneous T-cell Non-Hodgkin Lymphoma Stage III Grade 1 Follicular Lymphoma Stage III Grade 2 Follicular Lymphoma Stage III Grade 3 Follicular Lymphoma Stage III Mantle Cell Lymphoma Stage III Marginal Zone Lymphoma Stage III Mycosis Fungoides/Sezary Syndrome Stage III Small Lymphocytic Lymphoma Stage IV Adult Burkitt Lymphoma Stage IV Adult Diffuse Large Cell Lymphoma Stage IV Adult Diffuse Mixed Cell Lymphoma Stage IV Adult Diffuse Small Cleaved Cell Lymphoma Stage IV Adult Hodgkin Lymphoma Stage IV Adult Immunoblastic Large Ce Stage IV Adult Immunoblastic Large Cell Lymphoma Stage IV Adult Lymphoblastic Lymphoma Stage IV Adult T-cell Leukemia/Lymphoma Stage IV Cutaneous T-cell Non-Hodgkin Lymphoma Stage IV Grade 1 Follicular Lymphoma Stage IV Grade 2 Follicular Lymphoma Stage IV Grade 3 Follicular Lymphoma Stage IV Mantle Cell Lymphoma Stage IV Marginal Zone Lymphoma Stage IV Mycosis Fungoides/Sezary Syndrome Stage IV Small Lymphocytic Lymphoma Unspecified Adult Solid Tumor, Protocol Specific Drug: irinotecan hydrochloride
MeSH: Mycoses Burkitt Lymphoma Lymphoma Leukemia Lymphoma, Follicular Lymphoma, Non-Hodgkin Lymphoma, B-Cell Hodgkin Disease Lymphoma, Mantle-Cell Lymphoma, B-Cell, Marginal Zone Leukemia, Lymphocytic, Chronic, B-Cell Precursor Cell Lymphoblastic Leukemia-Lymphoma Lymphoma, Large B-Cell, Diffuse Lymphoma, T-Cell Lymphoma, Large-Cell, Immunoblastic Plasmablastic Lymphoma Mycosis Fungoides Sezary Syndrome Lymphoma, T-Cell, Cutaneous Leukemia, T-Cell Leukemia-Lymphoma, Adult T-Cell Lymphoma, Large-Cell, Anaplastic Intraocular Lymphoma Immunoblastic Lymphadenopathy Syndrome
HPO: Anaplastic large-cell lymphoma B-cell lymphoma Burkitt lymphoma Chronic lymphatic leukemia Cutaneous T-cell lymphoma Hodgkin lymphoma Leukemia Lymphoma Non-Hodgkin lymphoma T-cell lymphoma

Inclusion Criteria: - Histologically proven solid tumor or lymphoma - Responded to irinotecan OR no existing curative therapy - No leukemia - Measurable or evaluable disease - Performance status - Karnofsky 70-100% - WBC at least 3500/mm^3 - Absolute neutrophil count at least 1500/mm^3 - Platelet count at least 100,000/mm^3 - Bilirubin normal - SGOT/SGPT less than 5 times upper limit of normal (unless due to disease) - Creatinine no greater than 1.5 mg/dL - Creatinine clearance at least 60 mL/min - Not pregnant or nursing - Fertile patients must use effective contraception - No inflammatory bowel disease requiring therapy - No chronic diarrhea syndrome or paralytic ileus - At least 2 weeks since prior colony stimulating factor - At least 4 weeks since prior biologic therapy - No concurrent biologic therapy - See Disease Characteristics - At least 4 weeks since prior chemotherapy (6 weeks for nitrosoureas or mitomycin) - No other concurrent chemotherapy - At least 4 weeks since prior radiotherapy to greater than 25% of bone marrow - No concurrent palliative radiotherapy - No prior transplant - No concurrent substrates of UGT1A1 enzyme - No concurrent inducers or inhibitors of UGT1A1 enzyme activity Inclusion Criteria: - Histologically proven solid tumor or lymphoma - Responded to irinotecan OR no existing curative therapy - No leukemia - Measurable or evaluable disease - Performance status - Karnofsky 70-100% - WBC at least 3500/mm^3 - Absolute neutrophil count at least 1500/mm^3 - Platelet count at least 100,000/mm^3 - Bilirubin normal - SGOT/SGPT less than 5 times upper limit of normal (unless due to disease) - Creatinine no greater than 1.5 mg/dL - Creatinine clearance at least 60 mL/min - Not pregnant or nursing - Fertile patients must use effective contraception - No inflammatory bowel disease requiring therapy - No chronic diarrhea syndrome or paralytic ileus - At least 2 weeks since prior colony stimulating factor - At least 4 weeks since prior biologic therapy - No concurrent biologic therapy - See Disease Characteristics - At least 4 weeks since prior chemotherapy (6 weeks for nitrosoureas or mitomycin) - No other concurrent chemotherapy - At least 4 weeks since prior radiotherapy to greater than 25% of bone marrow - No concurrent palliative radiotherapy - No prior transplant - No concurrent substrates of UGT1A1 enzyme - No concurrent inducers or inhibitors of UGT1A1 enzyme activity AIDS-related Peripheral/Systemic Lymphoma AIDS-related Primary CNS Lymphoma Anaplastic Large Cell Lymphoma Angioimmunoblastic T-cell Lymphoma Extranodal Marginal Zone B-cell Lymphoma of Mucosa-associated Lymphoid Tissue Intraocular Lymphoma Nodal Marginal Zone B-cell Lymphoma Primary Central Nervous System Non-Hodgkin Lymphoma Recurrent Adult Burkitt Lymphoma Recurrent Adult Diffuse Large Cell Lymphoma Recurrent Adult Diffuse Mixed Cell Lymphoma Recurrent Adult Diffuse Small Cleaved Cell Lymphoma Recurrent Adult Hodgkin Lymphoma Recurrent Adult Immunoblastic Large Cell Lymphoma Recurrent Adult Lymphoblastic Lymphoma Recurrent Adult T-cell Leukemia/Lymphoma Re Recurrent Cutaneous T-cell Non-Hodgkin Lymphoma Recurrent Grade 1 Follicular Lymphoma Recurrent Grade 2 Follicular Lymphoma Recurrent Grade 3 Follicular Lymphoma Recurrent Mantle Cell Lymphoma Recurrent Marginal Zone Lymphoma Recurrent Mycosis Fungoides/Sezary Syndrome Recurrent Small Lymphocytic Lymphoma Small Intestine Lymphoma Splenic Marginal Zone Lymphoma Stage III Adult Burkitt Lymphoma Stage III Adult Diffuse Large Cell Lymphoma Stage III Adult Diffuse Mixed Cell Lymphoma Stage III Adult Diffuse Small Cleaved Cell Lymphoma Stage III Adult Hodgkin Lymphoma Stage III Adult Immunoblastic Large Cell Lymphoma Stage III Adult Lymphoblastic Lymphoma Stage III Adult T-cell Leukemia/Lymphoma Stage III Cutaneous T-cell Non-Hodgkin Lymphoma Stage III Grade 1 Follicular Lymphoma Stage III Grade 2 Follicular Lymphoma Stage III Grade 3 Follicular Lymphoma Stage III Mantle Cell Lymphoma Stage III Marginal Zone Lymphoma Stage III Mycosis Fungoides/Sezary Syndrome Stage III Small Lymphocytic Lymphoma Stage IV Adult Burkitt Lymphoma Stage IV Adult Diffuse Large Cell Lymphoma Stage IV Adult Diffuse Mixed Cell Lymphoma Stage IV Adult Diffuse Small Cleaved Cell Lymphoma Stage IV Adult Hodgkin Lymphoma Stage IV Adult Immunoblastic Large Ce Stage IV Adult Immunoblastic Large Cell Lymphoma Stage IV Adult Lymphoblastic Lymphoma Stage IV Adult T-cell Leukemia/Lymphoma Stage IV Cutaneous T-cell Non-Hodgkin Lymphoma Stage IV Grade 1 Follicular Lymphoma Stage IV Grade 2 Follicular Lymphoma Stage IV Grade 3 Follicular Lymphoma Stage IV Mantle Cell Lymphoma Stage IV Marginal Zone Lymphoma Stage IV Mycosis Fungoides/Sezary Syndrome Stage IV Small Lymphocytic Lymphoma Unspecified Adult Solid Tumor, Protocol Specific Mycoses Burkitt Lymphoma Lymphoma Leukemia Lymphoma, Follicular Lymphoma, Non-Hodgkin Lymphoma, B-Cell Hodgkin Disease Lymphoma, Mantle-Cell Lymphoma, B-Cell, Marginal Zone Leukemia, Lymphocytic, Chronic, B-Cell Precursor Cell Lymphoblastic Leukemia-Lymphoma Lymphoma, Large B-Cell, Diffuse Lymphoma, T-Cell Lymphoma, Large-Cell, Immunoblastic Plasmablastic Lymphoma Mycosis Fungoides Sezary Syndrome Lymphoma, T-Cell, Cutaneous Leukemia, T-Cell Leukemia-Lymphoma, Adult T-Cell Lymphoma, Large-Cell, Anaplastic Intraocular Lymphoma Immunoblastic Lymphadenopathy Syndrome OBJECTIVES: I. Classify patients with solid tumors or lymphoma according to UGT1A1 promoter (TATA box) and coding region (Gly71Arg) mutation, and CYP3A4 promoter (G to A) polymorphisms. --- Gly71Arg ---

The DNA is analyzed for the UGT1A1 coding region mutation (Gly71Arg) and CYP3A4 promoter polymorphism. --- Gly71Arg ---

Primary Outcomes

Description: A Cochran-Armitage test for trend will be used to determine whether there is a linear trend in the proportion of patients within each genotype experiencing grade 3-4 diarrhea. Similarly, trend analysis will be performed to determine if there is a linear trend in the proportion of patients within each phenotype experiencing grade 3-4 myelosuppression. Genotype (3 ordered levels) will be modeled as a function of metabolic ratios and biliary index to determine whether these are independent.

Measure: Grade 3-4 diarrhea

Time: Up to 4 years

Secondary Outcomes

Description: A chi-squared test will be used to determine whether genotype and phenotype are independent.

Measure: Genotype

Time: Up to 4 years

Description: A chi-squared test will be used to determine whether genotype and phenotype are independent. Modeled as a function of metabolic ratios and biliary index.

Measure: Phenotype

Time: Up to 4 years

2 Establishing Novel Detection Techniques for Various Genetic-Related Diseases by Applying DHPLC Platform.

In this, here we want to present a new method for analysis variation in gene copy number for patients and carriers of SMA. This is a relative quantitation method and, therefore, relies on the inclusion of one or more internal control or reference sequences; quantitation of DNA is relative to this reference sequence of known copy number. A peak height from within a potentially duplicated or deleted target region is amplified simultaneously with a disomic reference region in a multiplex PCR system.

NCT00154960 Spinal Muscular Atrophy Neonatal Hyperbilirubinemia Colon Cancer
MeSH: Muscular Atrophy Muscular Atrophy, Spinal Hyperbilirubinemia, Neonatal Atrophy Hyperbilirubinemia
HPO: Neonatal hyperbilirubinemia Skeletal muscle atrophy Spinal muscular atrophy

The high allele-frequency of Gly71Arg and promoter polymorphism in UGT1A1 gene was found to be responsible for neonatal hyperbilirubinemia without obvious cause. --- Gly71Arg ---



HPO Nodes


Skeletal muscle atrophy
Genes 740
MPZ DOK7 VCP AIFM1 COL12A1 COL13A1 RNASEH1 ALS2 CCDC115 ATXN3 HSPB1 OPA1 MTM1 CHRNB1 MYPN MYH7 SLC5A7 ANO5 HSPB3 WASHC5 SLC16A2 MCCC2 POMT2 PMP22 RAPSN TTN SLC18A3 C8ORF37 MPZ COL6A1 SQSTM1 FUS VRK1 PLEC SUCLA2 TMEM43 MUSK PON2 SOD1 COLQ MYO9A EMD SLC25A4 CEP126 OPTN SLC18A3 PNPLA6 TDP1 MYH7 ADK TTN HNRNPA1 REEP1 FKBP14 TBCD SPART PRUNE1 CUL4B ERLIN2 ATP7A ERGIC1 ITGA7 GARS1 SDHA MAG HEXB C9ORF72 FUS RRM2B TTN MYPN FUS STAC3 AP1S2 TMEM43 GBE1 LARGE1 CYP7B1 C9ORF72 DMD TRNF DMD FLNC MPZ NDUFA9 DOK7 SMN1 MSTO1 OPA1 FHL1 MPZ FARS2 INSR COL12A1 PNPLA6 HNRNPA2B1 LMOD3 SPEG SDCCAG8 KIF1A TNXB DES COL6A1 LEMD3 PHKA1 ASAH1 ATXN3 ATL1 NEB NDUFAF6 COG7 MYH7 HSPG2 PHKG2 ALDH18A1 ABCA1 CHP1 AIFM1 MST1 ENTPD1 COL4A1 SURF1 LMNA AGTPBP1 NDRG1 SIL1 CD28 SH3TC2 TCAP GDAP1 FXN TRAPPC11 HARS1 TTC19 POMT1 SLC39A13 COL2A1 TRPV4 ASCC1 FKTN ACTA1 GDAP1 ND5 DHH ALDH18A1 COASY MYOT LAMB2 TRPV4 SLC5A7 VCP MPZ SCN4A PYROXD1 SACS B4GALNT1 BVES SIGMAR1 SDHAF1 SLC7A7 IBA57 C12ORF65 NUP88 HMGA2 CRPPA SLC52A2 SGCG FAM111B NDE1 TRNH PIEZO2 NEU1 MATR3 CHMP2B BBS10 LMNA AIP CHN1 BSCL2 MPV17 PIK3R2 SLC52A3 TRNL1 BBS1 NGLY1 HUWE1 SPG11 CPT1A ANG SELENON ALDH18A1 SCYL1 GLE1 BAG3 MUSK EXOSC8 BBS7 PNPLA6 PRX VPS13A B4GALNT1 PLEKHG5 ANO5 HNRNPA1 CFAP410 PFN1 RBM28 ATAD3A FLRT1 TK2 GAN SPRTN POLG C9ORF72 CAPN1 TNNT1 FARS2 SETX VAPB TRNS1 CAPN1 PMP22 MME NPHP1 CA8 INSR TRPV4 CHCHD10 VAMP1 NEFL RETREG1 CCT5 GFPT1 B3GALNT2 DCAF8 MPZ ACTA1 TIA1 HNRNPA2B1 HSPB8 UBA1 SYNE1 RAPSN CD59 VAMP1 INPP5K PLP1 PSMB8 FBLN5 TREM2 ATXN1 LEMD3 HSPG2 ARSI PRKAR1A COX1 GLB1 AGL COA7 ACTA1 TK2 TPM3 GDAP1 SLC25A1 STAC3 PFN1 PIP5K1C TUBB2B REEP1 LDB3 SETX COL6A1 KLC2 MFN2 MKKS PNPLA6 SLC46A1 RAB7A BBS5 PEX10 SLC52A2 GLE1 TRNW CHCHD10 COX3 GNE TTPA VCP DAO COL6A2 POLR3A BSCL2 POMK LIMS2 CNTNAP1 TGFB1 NOP56 LMNB2 VMA21 PSAT1 GDAP1 MAFB COX2 SIL1 TBCE C19ORF12 KCNK9 RYR1 DCTN1 SYT2 RTN2 WNK1 ERLIN2 TBCE FLNA PNPT1 SLC9A6 KIF1A C12ORF65 ERBB4 CHRNE TPM2 PON3 GLE1 WARS2 SYNE2 TTN NEK1 MGME1 COL6A1 ATAD3A GNAS AP1S2 SFXN4 TPM3 SLC52A2 SLC39A13 TBCD ZC4H2 ACTB DYSF NEFH PMP22 ATXN2 PHYH CPLANE1 BBS9 DNM2 SCN9A YARS2 KLC2 FRG1 DYSF ZFYVE26 PRPH TRAPPC11 REEP1 CAPN3 CHRND SYNE2 NAGA MYH3 PRPH PEX6 UBQLN2 ANTXR2 LMNA SQSTM1 MPZ PUS1 TNNT1 SCN4A COL6A3 ND4 SYT2 INF2 NEU1 ANG COL6A3 BMP1 POMGNT2 DYSF CHRNG BSCL2 NEFH TRIM32 TYMP KIF1B PMP22 COQ2 SLC52A3 TPM2 TARDBP SACS OGDH B4GALT7 DAG1 BSCL2 AGRN TRNQ FLNC ERLIN1 CCT5 GLT8D1 MFN2 DAG1 PGAP1 FKRP SOD1 TIA1 FGD4 SUCLG1 MECP2 SMCHD1 RYR1 TFG ZFYVE26 PDE11A LRP4 SLC25A19 VLDLR SGCB PEX7 CRPPA SQSTM1 RBM28 FKRP AK9 DNAJB2 COL6A2 NAGA LAMP2 MPZ SQSTM1 ZC4H2 BICD2 GYG1 TPI1 LZTFL1 SGCD GLE1 GPR35 CTNS DYSF TARDBP CHRND PYCR2 BIN1 PHGDH RYR1 HINT1 EGR2 COL6A3 COG8 VAPB DUX4 TIA1 FBXL4 B4GAT1 ATXN2 TNXB USP8 BBS2 TRNE EGR2 CAV3 KIF1C CPT1C MATR3 TGFB1 TRIM32 ERGIC1 MME KDM5C ATXN3 ABHD12 SBF2 ADSS1 PUS1 KLHL9 MTMR2 MKS1 NEFH RRM2B COL25A1 PNKP APTX PRKACA AIFM1 CCNF SDHD COL6A2 ANXA11 DNM1L MUSK VCP BIN1 BICD2 FHL1 FIG4 ATL1 TARDBP VAPB PNPLA2 ATP8A2 PMP22 KLHL41 HNRNPDL PSMB8 TNFRSF1B PEX5 C19ORF12 POLG C19ORF12 MRE11 DYNC1H1 SQSTM1 RXYLT1 WDR81 TOE1 ND6 ACTA1 DARS2 PRPS1 REEP1 FKTN EXOSC3 ADSL YARS1 NALCN RNASEH1 LMNA ACADSB SEPTIN9 ACADM MYOT KBTBD13 ACTA1 MTAP UNC13A ATP8 RPS6KA3 DGUOK CHRNE NEB BBS12 AMPD2 NBN IFT172 SLC33A1 MYMK PDK3 COL6A2 TFG COL6A2 IGHMBP2 PRX SPTBN4 TK2 SMN2 WDPCP FLVCR1 KY GBA2 NEFL EGR2 IFRD1 JPH1 CHRNA1 RYR1 SNAP25 MYH7 ERBB3 CPT1C TDP1 LMNA KY SLC16A2 PLXND1 LRP12 SMCHD1 AR SPART PON1 VCP PFKM AFG3L2 ANO5 SGCD NEB DNA2 CEP290 KIF1C EPHA4 BICD2 DCTN1 ERLIN1 LITAF SOX10 LMNA DGUOK LTBP4 ATXN3 CTLA4 DCTN1 CAPN3 CHMP2B MYOT AFG3L2 TRNS2 SYNE1 STUB1 NUP88 RYR1 GARS1 MFN2 TPM3 SPAST SPG11 TRAPPC11 CHAT TTC8 SGCA AMPD2 ATXN1 ADSS1 FIG4 GJB1 NARS2 BBIP1 MYOD1 POMT1 PPARGC1A SELENON MDH2 CRPPA SELENON POMT1 GNE TRIP4 TTN CRPPA FRG1 KLHL41 TAF15 KLHL40 CAPN3 SLC12A6 ATM KIF5A TBK1 FBXO38 ARL6 STIM1 PLOD3 SMN1 ACTA1 VPS13A POLG CHRNB1 DOK7 DNAJC19 ND1 CHRNB1 NEB TBK1 GDAP1 FKRP IFT27 SLC33A1 PNKP COL6A3 PDE8B PLEC DMPK AARS1 TPM2 MGME1 TRPV4 FAM126A ALS2 CHCHD10 HINT1 TRNL1 TCF4 COL13A1 NDUFA12 FKTN POMGNT1 ZBTB20 LMOD3 SDHB HSPB1 TPI1 SPTLC1 SCO2 TPM3 REV3L NOP56 DARS2 KIF1A MYH14 LRSAM1 MPZ MAP3K20 WRN PTEN NIPA1 FKBP14 LMNA POMT2 PHKA2 GJB1 KLHL41 YARS2 BBS4 ATL1 CHRNE GFPT1 MYBPC1 TBC1D23 SMN1 GARS1 MYMK GMPPB VPS13D VCP CHRNA1 MED25 DHTKD1 TBK1 GJB1 ASAH1 PHF6 NDUFS4 PMP22 SMN1 AGRN HNRNPA1 VCP
Neonatal hyperbilirubinemia
Genes 11
SPTA1 UBE2A GYPC UGT1A1 SPTA1 UGT1A1 GPX1 FBP1 SPTB EPB41 IGF1
Non-Hodgkin lymphoma
Genes 32
ATM FAS CASP10 CTLA4 FAS BCL10 CD28 BIRC3 FOXP1 TNFRSF1B MYC CCND1 ASXL1 ATM MALT1 CTLA4 CD28 SRSF2 KIT POLE IGH ADA TET2 FASLG PIK3R1 NTHL1 RASGRP1 TNFRSF1B PRKCD NBN RHOH IGH
Chronic lymphatic leukemia
Genes 8
ADAR TREX1 IFIH1 PIK3R1 RNASEH2A SAMHD1 RNASEH2B RNASEH2C
Leukemia
Genes 190
ATM KRAS KIT RPS15A NF1 MPL RPL35A RPL11 RPL18 DDX41 SBDS LPP ETV6 BUB1B F13A1 DNMT3A JAK2 NUP214 FANCD2 MSH6 FANCA PIGL NRAS TCIRG1 BUB1 TET2 FLT3 TAL1 ATRX TREX1 PDGFRA SRP54 RPS29 PTPN11 CALR FANCE WIPF1 SF3B1 GATA2 GLI1 STS SH3GL1 XRCC4 MPL SH2B3 EFL1 PIGA TREM2 CBL MPL RUNX1 MPL PIGL THPO FANCG NSD1 BRD4 NSUN2 SH2B3 RARA GATA2 NPM1 CBL CHIC2 ERBB3 GFI1 TERT KIT BCR ARHGAP26 DYNC2LI1 EVC SCN10A GATA1 ELANE RNASEH2B RPS14 SH2B3 JAK2 RPL15 SBDS NRAS RPL26 RPL27 ADA2 RPS7 TYROBP F13B MSH2 BCR WAS TERC TP53 TRIP13 MYD88 NUTM1 RPS24 GNB1 TP53 DNMT3A TERT NUMA1 NUP214 RPL5 SAMD9L TET2 CFTR POT1 FANCC RPS10 EP300 EVC2 BUB1B CEBPA BRCA2 DNAJC21 CALR SCN9A LIG4 ADAR BLM TET2 JAK2 SMPD1 RNASEH2C SCN11A GATA2 BUB3 PRSS1 KIF11 BCR RPL35 TAL2 SRP54 IFIH1 ABL1 PDGFRB KRAS RNASEH2A TET2 MLLT10 SRP54 DNAJC21 DKC1 RUNX1 APC LIG4 CBFB BLM THPO CALR NBN JAK2 MLH1 RPS19 ELANE SAMD9L RPL31 PMS2 ASXL1 TSR2 MLF1 PIK3CA DNAJC21 RUNX1 GFI1 SRSF2 SETBP1 HAX1 RPS26 RPS17 FLT3 RPS27 PIK3R1 KRAS CEP57 PICALM CREBBP GATA2 CTRC MYD88 TET2 RPS28 ABL1 RB1 SPINK1 GATA1 NBN JAK2 SAMHD1
Hodgkin lymphoma
Genes 15
ATM TCF4 POLE FAS DKC1 CASP10 TCF4 FAS FASLG COL14A1 RNF43 AAGAB RASGRP1 PRKCD KLHDC8B
Anaplastic large-cell lymphoma
T-cell lymphoma
Genes 14
POLE FAS CASP10 CTLA4 FAS FASLG CD28 TNFRSF1B RASGRP1 TNFRSF1B PRKCD CTLA4 CD28 NBN
B-cell lymphoma
Genes 17
IGH FAS CASP10 ADA FAS FASLG BCL10 PIK3R1 BIRC3 FOXP1 RASGRP1 CCND1 ATM PRKCD MALT1 NBN IGH
Cutaneous T-cell lymphoma
Genes 6
CTLA4 TNFRSF1B CD28 CTLA4 CD28 TNFRSF1B
Spinal muscular atrophy
Genes 26
EXOSC8 ASAH1 SIGMAR1 BICD2 TBCE KCNK9 IGHMBP2 PLEKHG5 FBXO38 TK2 SMN2 VAPB SMN1 TBCE DYNC1H1 SMN1 TRPV4 ATP7A SMN1 ASCC1 DNAJB2 CHCHD10 VRK1 TRIP4 UBA1 SMN1
Burkitt lymphoma
Genes 8
RASGRP1 FAS CASP10 FAS FASLG PRKCD RHOH MYC
Lymphoma
Genes 133
ATM KRAS CD19 IGH DDX41 BCL10 BIRC3 FOXP1 MS4A1 TP63 RAG1 LIG4 NFKB2 MSH6 TERC RECQL4 NTHL1 WIPF1 CTC1 LYST NOP10 RASGRP1 TNFRSF1B XRCC4 PRKCD NHP2 MAGT1 TNFRSF13B IGH RMRP RUNX1 CTLA4 DCLRE1C FAS ICOS RNF43 NSUN2 XIAP IL7R CASP10 BCL6 CDKN2A ATM IL2RG RTEL1 PARN NBN KIT TNFRSF13C TCF4 ICOS TNFSF12 CHEK2 USB1 CD19 CR2 NRAS MSH2 WAS BCL10 CASP10 MYD88 COL14A1 PRKCD TNFRSF13B MYC MDM2 SH2D1A CCND1 BCL10 CFTR CD27 PGM3 TCF4 CHD7 IGH LIG4 BLM BCL2 TET2 HLA-DRB1 PRSS1 NPM1 KIF11 ITK WRAP53 RAD54B TINF2 FAS DKC1 APC CD81 LIG4 BLM CD28 DKC1 AAGAB RAG2 TNFRSF1B MLH1 TNFRSF13C DNASE1L3 NFKB1 PMS2 ASXL1 IL2RG PRF1 PTEN MALT1 RAD54L CTLA4 CD28 PNP SRSF2 TNFSF12 STAT3 POLE ADA CR2 ADA FASLG PIK3R1 TP53 CTRC ZAP70 MYD88 RB1 RMRP SPINK1 TERT KLHDC8B NBN RHOH