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Next Generation Sequencing in Diffuse Large B Cell Lymphoma Highlights Molecular Divergence and Therapeutic Opportunities: a LYSA Study Dubois et al.

Summary

Next Generation Sequencing in Diffuse Large B Cell Lymphoma Highlights Molecular Divergence and Therapeutic Opportunities: a LYSA Study............................1

Supplemental Methods..................................................................................................................................2Patient and tumor sample selection...........................................................................................................2COO molecular classification....................................................................................................................2Variant analysis and bioinformatics pipeline.............................................................................................2AID mutation analysis...............................................................................................................................2Protein representations...............................................................................................................................3

Supplemental Figures....................................................................................................................................4Figure S1: Variant filters applied to Lymphopanel NGS data...................................................................4Figure S2: Validation of variants according to SIFT and CADD scores...................................................5Figure S3: PMBL samples harbor more mutations than other DLBCL subtypes.....................................6Figure S4: Role of AID-induced SHM in DLBCL....................................................................................7Figure S5: Mutation frequency by subtype................................................................................................8Figure S6: Clustering of gene mutations according to subtype.................................................................9Figure S7: Protein representations of observed mutations......................................................................15Figure S8: Correlations between age and specific gene mutations.........................................................16Figure S9: Prognosis according to IPI and subtype.................................................................................18Figure S10: Prognostic impact of gene mutations among the Lymphopanel..........................................19

Supplemental Tables....................................................................................................................................20Table S1: Clinical characteristics of patients in our cohort.....................................................................20Table S2: Overview of the Lymphopanel used for NGS analysis...........................................................21Table S3: Overview of pathway selection...............................................................................................22Table S4: Validation of variant filtering by an independent study of seven non-tumoral samples from DLBCL patients.......................................................................................................................................23Table S5: Validated variants....................................................................................................................47Table S6: Lymphopanel NGS detection of genes with high AID target frequencies..............................48Table S7: Prognostic impact of mutations in Lymphopanel genes.........................................................63

Supplemental MethodsPatient and tumor sample selectionPatients were stratified according to age and age-adjusted International Prognosis Index (aaIPI) and assigned to the following trials: LNH03-1B (aaIPI = 0, < 60 years old), LNH03-2B (aaIPI = 1, age < 60 years old), LNH03-3B and 39B (aaIPI = 2-3, age < 60 years old), LNH03-6B (aaIPI=0-3, age=60-80 years old), LNH03-7B (age > 80 years old), and LNH 01-5B (aaIPI = 2-3, age 60-65 years old). Details regarding the design and data management of the LNH 03-2B, 03-3B, 03-6B and 03-7B trials have been published (Ketterer et al, Ann Oncol, 2013; Molina et al, J Clin Oncol, 2014; Récher et al, Lancet, 2011; Fitoussi et al, Haematologica, 2011; Delarue et al, Lancet Oncol, 2013; Peyrade et al, Lancet Oncol, 2011).

COO molecular classificationSamples were analyzed with HGU133+2.0 Affymetrix GeneChip arrays (Affymetrix). The chips were scanned with an Affymetrix GeneChip Scanner 3000 and subsequent images were analyzed using Gene Chip® Operating Software (GCOS) 1.4. Raw feature normalization and quality check were handled using Bioconductor software (affy, affyQCReport, GCRMA), excluding multi-gene probesets (x). PMBL signature was established using hierarchical clustering (complete distance, Ward agglomeration) of a previously published gene signature (Rosenwald et al, J Exp Med, 2003), excluding TCL1A and E2F2 that could not be reliably measured on U133+2.0 arrays. The “other” subgroup was defined as samples not significantly determined as ABC or GCB subtype.

Variant analysis and bioinformatics pipelineTorrent Suite™ version 4.0 (Life Technologies) software was used to perform primary analysis, including signal processing, base calling, sequence alignment to the reference genome (hg19) and generation of Binary Alignment/Map (BAM) files. BAM files were used by Torrent Suite™’s Variant Caller (TVC) to detect point mutations as well as short insertions and deletions using the PGM Somatic Low Stringency profile. VCF files generated by Variant Caller were annotated by ANNOVAR (Wang et al, Nucleic Acids Res, 2010). Genes were identified using the Refseq database (version hg19_refGene). Variants were filtered according to mutation type: only frameshift and non-frameshift deletions, insertions or substitutions, splicing, nonsynonymous, stopgain or stoploss Single Nucleotide Variations (SNVs), and UTR3 or UTR5 were kept. Stopgain, frameshift and/or splicing SNVs are referred to in the article as truncating mutations. A normal probability plot defined thresholds separating true positives (confirmed by Sanger sequencing, TVC score ≥ 22) from true negatives (discredited by Sanger sequencing, TVC score < 9.5) and highlighted a gray zone (9.5 < TVC score < 22) in which variants must be confirmed by Sanger sequencing. When possible, insertion-deletions in homopolymeric regions were verified as well, regardless of TVC score. Highly recurrent variants (n ≥ 30) validated at least twice by Sanger sequencing were confirmed without further validation for all samples. Variants described as “nonpathogenic” or “probably nonpathogenic” in the ClinVar database (version hg19_clinvar_20140211) were discarded, as were those with predictive SIFT (version hg19_ljb23_sift) or CADD (version hg19_ljb26_cadd) scores >0.05 or <1.5 respectively, or with a frequency ≥ 1% in the 1000genomes database (version hg19_ALL.sites.2012_04) (detailed in Figures S1 and S2) (Kumar et al, Nat Protocols, 2009). We achieved a median uniformity of 92% [80%-94%] and a median on-target read percentage of 95% [86%-97%]. Further verification by Sanger sequencing was performed using a BigDye® Terminator v3.1 Cycle Sequencing Kit (Life Technologies) and an ABI PRISM 3130 analyzer (Life Technologies).

AID mutation analysisFor AID mutation analysis, synonymous variants were also included, and the Functional filter was not applied. Preferential DGYW/WRCH AID target sites were targeted (Rogozin et al, J. Immunol, 2004).

Protein representationsProtein representations were created using R software version 3.1.2. Domains were imported from the Pfam database and motifs from the Uniprot database. Exons were located using the CCDS database. Uniprot/Ensembl IDs used were as follows: BCL2 (P10415), B2M (P61769), BRAF (P15056), CARD11 (Q9BXL7), CD58 (P19256), CD79A (P11912), CD79B (P40259), CDKN2A p16 (P42771), CDKN2A p14 (Q8N726), CDKN2B (P42772), CIITA (P33076), CREBBP (Q92793), EP300 (Q09472), EZH2 (Q15910), FOXO1 (Q12778), GNA13 (Q14344), ID3 (Q02535), IRF4 (Q15306), ITPKB (P27987), MEF2B (Q02080), MFHAS1 (Q9Y4C4), KMT2D (O14686), MYC (P01106), MYD88 isoforms 67 (ENSP00000401399) and 69 (ENSP00000390565), NOTCH1 (P46531), NOTCH2 (Q04721), PIM1 (ENSP00000362608), PRDM1 (O75626), SOCS1 (O15524), STAT6 (P42226), TCF3 (ENSP00000344375), TNFAIP3 (P21580), TNFRSF14 (Q92956), TP53 (P04637), XPO1 (O14980). All protein representations are available in Figure S3.

Supplemental Figures

Figure S1: Variant filters applied to Lymphopanel NGS data.The numbers in the Venn diagram correspond to the number of variants left after filtering. The Quality Filter eliminated variants based on TVC score and Sanger sequencing confirmation when performed. The SNP Filter eliminated variants based on their type, their frequency in the 1000genomes database and their description in the ClinVar database. The Functional Filter eliminated variants based on their CADD or SIFT scores. A total of 1064 validated variants remained after applying all three filters.

Figure S2: Validation of variants according to SIFT and CADD scores.(A) The CADD scores of the RELYSE study variants are compared to the CADD scores of different ClinVar annotations. Using a CADD score threshold of 1.5 enables the filtering of most non-pathogenic variants, while maintaining all pathogenic and probably pathogenic variants. B: The CADD scores of variants present in the dbSNP and COSMIC databases are plotted, as is the 1.5 CADD score threshold. Using the threshold at 1.5 filters the majority of dbSNP variants, while maintaining the majority of COSMIC variants. (C) CADD versus SIFT scores of variants are plotted. We eliminated double negative variants (blue) and conserved variants with CADD and/or SIFT scores above the defined thresholds (orange and red).

A

B

C

Figure S3: PMBL samples harbor more mutations than other DLBCL subtypes.The number of variants was calculated for each sample and a boxplot of number of variants per sample according to subtype was generated. PMBL samples are significantly more frequently mutated than ABC, GCB or “other” subtypes combined (DLBCL).

Figure S4: Role of AID-induced SHM in DLBCL.(A) The percentage of transition and transversion variants per gene are plotted as a stacked bar chart, with a pie chart representing the percentage of transition, transversion and other variants among the total Lymphopanel. (B) AID mutation frequency (percentage of total variants located at preferential DGYW/WRCH AID target sites) was calculated for each gene in the Lymphopanel. (C) AID target site mutation rate (percentage of sequenced DGYW/WRCH AID target sites in each gene that were effectively mutated) was calculated for each gene in the Lymphopanel. Genes in the gray box are genes which have a significantly higher (PIM1, SOCS1, BCL2, MYC, GNA13 and ITPKB) or lower (KMT2D, EP300, CREBBP and TP53) AID target site mutation rate than expected, compared to the average of the Lymphopanel. PIM1, SOCS1 and BCL2 (pink) seem to represent a separate group with higher AID target site mutation rates than MYC, GNA13 and ITPKB (orange).

A

B

C

Figure S5: Mutation frequency by subtype. Gene mutation frequency by subtype is represented for ABC patients (A), GCB patients (B), PMBL patients (C) and “other” patients (D).

A B

C D

Figure S6: Clustering of gene mutations according to subtype.Unsupervised clustering was performed for ABC subtype patients (A), GCB subtype patients (B), “other” patients (C) and PMBL patients (D). Presence of a mutation in a given gene for a given patient is plotted as a filled-in square. Genes (rows) and samples (columns) are arranged according to hierarchical clustering.

Figure S7: Protein representations of observed mutations.Protein representations were rendered using domains imported from the Pfam database (green) and motifs from the Uniprot database (orange). Exons were located using the CCDS database and were numbered automatically, not counting non-coding and spliced exons. Blue shadowing indicated regions sequenced by Lymphopanel NGS. Substitutions are depicted as diamonds, insertions as triangles and deletions as rectangles whose length varies according to the deletion size. A color code is also applied, with blue indicating non-synonymous substitutions or non-frameshift insertions, yellow indicating insertions and frameshift deletions, and pink indicating stop-gain and stop-loss mutations. Blue shading indicates sequenced regions. IRF4, GNA13, B2M, ITPKB, MFHAS1 and XPO1 representations are shown in Figure 4.

Figure S8: Correlations between age and specific gene mutations.Box-plots representing age at diagnosis according to the mutated or WT status of a given gene are shown.

Figure S9: Prognosis according to IPI and subtype.Survival analysis was performed on patients treated with either R-ACVBP (A, C, E, G) or R-CHOP (B, D, F, H). OS and PFS were measured according to IPI (A, B and C, D) or subtype (E, F and G, H). OS and PFS were significantly decreased in both treatment groups for patients with an IPI of 3-5 as compared to patients with an IPI of 0-2. ABC subtype presented significantly worse OS and PFS than GCB in the R-CHOP treated group, but not in the R-ACVBP treated group.

Figure S10: Prognostic impact of gene mutations among the Lymphopanel.Survival curves were generated for gene mutations with uncorrected p-values < 0.05 (indicated in Table 1).

Supplemental TablesClinical Parameter Patients at diagnosis

(n=215)Gender M/F, n 108/107Age (years), median (range) 60 (19–87)IPI, n (%)

0 30 (14)1 40 (18.6)2 44 (20.5)3 51 (23.7)4 36 (16.7)5 14 (6.5)

Adverse prognostic factors, n (%)Age > 60 years 103 (47.9)Ann Arbor Stage III-IV 147 (68.4)

Performance status ≥ 2 35 (16.3)LDH > N 138 (64.2)Bulky mass ≥ 10cm 32 (14.9)

Subtype, n (%)ABC 81 (37.7)GCB 83 (38.6)Other 33 (15.4)PMBL 18 (8.4)

Treatment, n (%)ACVBP + Consolidation 16 (7.4)R-ACVBP + ASCT 11 (5.1)R-ACVBP + Consolidation 72 (33.5)R-CHOP14 33 (15.3)R-CHOP21 72 (33.5)R-miniCHOP21 11 (5.1)

Study inclusion, n (%)LNH01-5B 20 (9.3)LNH03-1B 31 (14.4)LNH03-2B 46 (21.4)LNH03-3B 23 (10.7)LNH03-6B 73 (34)LNH03-7B 11 (5.1)LNH03-39B 11 (5.1)

Table S1: Clinical characteristics of patients in our cohort.

Gene Transcript Reference Hotspots / Exons partially sequenced Location Sequenced

Base pairs References

B2M NM_000633 Hotspots exons 1 & 2, exon 3 15q21.1 360 Challa-Malladi, Cancer Cell, 2011BCL2 NM_004048 Hotspot exon 2 18q21.33 585 Schuetz, Leukemia, 2012BRAF NM_004333 Exon 15 7q34 119 Lohr, PNAS, 2012CARD11 NM_032415 Coiled-coil domain exons 4-9 7p22.2 1121 Lenz, Science, 2008; Davis, Nature, 2010CD58 NM_001779 Exons 1-6 1p13.1 753 Challa-Malladi, Cancer Cell, 2011CD79A NM_001783 ITAM domain exons 4 & 5 19q13.2 183 Davis, Nature, 2010CD79B NM_000626 ITAM domain exons 5 & 6 17q23.3 141 Davis, Nature, 2010CDKN2A NM_058197 Exons 1, 2A, 2B, 3, 4 & 5 9p21.3 1737 Pasqualucci, Nat Genetics, 2011CDKN2B NM_004936 Exons 1A, 1B & 2 9p21.3 1289 Pasqualucci, Nat Genetics, 2011CIITA NM_000246 Exons 1-19 16p13.13 3393 Steidl, Nature, 2011CREBBP NM_004380 Exons 1-31 16p13.3 7323 Pasqualucci, Nature, 2011EP300 NM_001429 Exons 1-31 22q13.2 7245 Pasqualucci, Nature, 2011EZH2 NM_001203247 SET domain, hotspots exon 16 & 18 7q36.1 177 Morin, Nat Genetics, 2010; Bödor, Blood,

2013FOXO1 NM_002015 Hotspots exon 1 & FH domain exon 2 13q14.11 780 Morin, Nature, 2011; Trinh, Blood, 2013GNA13 NM_006572 Exons 1-4 17q24.1 1134 Morin, Nature, 2011; Muppidi, Nature,

2014ID3 NM_002167 Exons 1 & 2 1p36.12 360 Love, Nature Genetics, 2012; Schmitz,

Nature, 2012IRF4/MUM1 NM_002460 Exons 2-9 6p25.3 1356 Bea, Blood, 2005; Khodabakhshi,

Oncotarget, 2012ITPKB NM_002221 Exons 2-8 1q42.12 2830 Mareschal (submitted)KMT2D/MLL2 NM_003482 Exons 1-54 12q13.12 16614 Pasqualucci, Nat Genetics, 2011; Morin,

Nature, 2011MEF2B NM_005919 Exons 2-9 19p13.11 1107 Morin, Nature, 2011MFHAS1 NM_004225 Exons 1-3 8p23.1 3159 Mareschal (submitted)MYC NM_002467 Exons 1-3 8q24.21 1365 Pasqualucci, Nature, 2001MYD88 NM_001172567 Exons 2-5 3p22.2 587 Ngo, Nature, 2011NOTCH1 NM_017617 PEST domain exon 34 9q34.3 1488 Lohr, PNAS, 2012NOTCH2 NM_024408 Exons 26-28 & 34 (HD/PEST domains) 1p12-p11.2 2091 Lee, Cancer Sci, 2009PIM1 NM_001243186 Exons 1-6 6p21.2 942 Pasqualucci, Nature, 2001PRDM1/BLIMP1 NM_001198 Exons 1-7 6q21 2478 Pasqualucci, JEM, 2006SOCS1 NM_003745 Exon 2 16p13.13 636 Melzner, Blood, 2005; Mottok, Blood, 2009STAT6 NM_001178078 Exons 9-14 (DNA binding domain

hotspot)12q13.3 795 Ritz, Blood, 2009

TCF3 NM_001136139 B-HLH domain of E47 isoform exons 17 & 18

19p13.3 370 Schmitz, Nature, 2012

TNFAIP3 NM_001270507 Exons 2-9 6q23.3 2373 Compagno, Nature, 2009TNFRSF14 NM_003820 Exons 1-8 1p36.32 852 Lohr, PNAS, 2012TP53 NM_000546 Mutation hotspots exons 4-10 17p13.1 1004 Young, Blood, 2007; Xu-Monette, Blood,

2012XPO1 NM_003400 Exons 15-18 2p15 640 Mareschal (submitted)

Table S2: Overview of the Lymphopanel used for NGS analysis.

Gene Transcript Reference Pathway References

B2M NM_000633 Immunity Bjorkman, Nature 1987; Peaper, Annu Rev Cell Dev Biol. 2008; Hicklin, J Clin Invest. 1998

BCL2 NM_004048 Apoptosis/Cell Cycle Czabotar, Nature Reviews Molecular Cell Biology 2013; Burlacu, J Cell Mol Med. 2003

BRAF NM_004333 MAP Kinase Dhillon, Oncogene 2007CARD11 NM_032415 NFkB Staudt, Cold Spring Harb Perspect Biol. 2010CD58 NM_001779 Immunity Springer, Annu Rev Immunol.1987 ; Kanner, J Immunol.1992 ;

Sanchez-Madrid, PNAS 1982CD79A NM_001783 BCR Weiss, Cell 1994; Monroe, Nat Rev Immunol 2006; Kraus, Cell 2004CD79B NM_000626 BCR Weiss, Cell 1994; Monroe, Nat Rev Immunol 2006; Kraus, Cell 2004CDKN2A NM_058197 Apoptosis/Cell Cycle Pucci, Neoplasia 2000CDKN2B NM_004936 Apoptosis/Cell Cycle Pucci, Neoplasia 2000CIITA NM_000246 Immunity Mach, Annu Rev Immunol. 1996; Steimle, Cell 1993; Masternak, Genes

and Dev 2000;CREBBP NM_004380 Epigenetic Regulation Shaknovich & Melnick, Curr Opin Hematol. 2011; Pasqualucci, Nature

2011EP300 NM_001429 Epigenetic Regulation Shaknovich & Melnick, Curr Opin Hematol. 2011; Gu, Cell 1997;

Cerchietti, J Clin Invest. 2010; Pasqualucci, Nature 2011EZH2 NM_001203247 Epigenetic Regulation Shaknovich & Melnick, Curr Opin Hematol. 2011; Yap, Blood 2011;

Sneeringer, PNAS 2010FOXO1 NM_002015 Apoptosis/Cell Cycle Zhang, Molecular Cell Research 2011; Lam, Biochem Soc Trans. 2006GNA13 NM_006572 Apoptosis/Cell Cycle Morin, Blood 2013; Muppidi, Nature 2014ID3 NM_002167 BCR Pan, Mol Cell Biol. 1999; Richter, Nature Genetics 2012IRF4/MUM1 NM_002460 NFkB Shaffer, Clin Cancer Res. 2009; Grumont, J Exp Med. 2000ITPKB NM_002221 BCR Maréchal, PNAS 2007KMT2D/MLL2 NM_003482 Epigenetic Regulation Shaknovich & Melnick, Curr Opin Hematol. 2011; Morin, Nature 2011MEF2B NM_005919 Epigenetic Regulation Morin, Nature 2011MFHAS1 NM_004225 Apoptosis/Cell Cycle Sakabe, Cancer Res 1999; Tagawa, Oncogene 2004MYC NM_002467 Apoptosis/Cell Cycle Pucci, Neoplasia 2000; Conzen, Mol Cell Biol. 2000; Hoffman,

Oncogene 2008MYD88 NM_001172567 NFkB Muzio, Science 1997; Wesche, Immunity 1997NOTCH1 NM_017617 NOTCH Baron, Semin Cell Dev Biol. 2003NOTCH2 NM_024408 NOTCH Baron, Semin Cell Dev Biol. 2003PIM1 NM_001243186 NFkB Blanco-Aparicio, Biochem Pharmacol. 2013PRDM1/BLIMP1 NM_001198 NFkB Shaffer, Clin Cancer Res. 2009SOCS1 NM_003745 JAK-STAT Rawlings, J Cell Sci. 2004STAT6 NM_001178078 JAK-STAT Rawlings, J Cell Sci. 2004TCF3 NM_001136139 BCR Richter, Nature Genetics 2012TNFAIP3 NM_001270507 NFkB Shembade, Science 2010; Coornaert, J Biol Chem. 2009TNFRSF14 NM_003820 Immunity Steinberg, Immunol Rev. 2011TP53 NM_000546 Apoptosis/Cell Cycle Pucci, Neoplasia 2000; Levine, Cell 1997XPO1 NM_003400 Apoptosis/Cell Cycle Fukuda, Nature 1997; Stade, Cell 1997

Table S3: Overview of pathway selection

Non-Tumoral Sample Number of variants identi-fied

Number of variants post-fil-ter

Error rate (%)

HEN-22_002 76 1 1.3HEN-22_004 88 2 2.3HEN-22_006 74 0 0.0HEN-22_008 79 0 0.0HEN-22_012 71 1 1.4HEN-22_014 71 0 0.0HEN-22_016 77 0 0.0

Table S4: Validation of variant filtering by an independent study of seven non-tumoral samples from DLBCL patients

genomicHGVS Gene Mutation type VAF SIFT CADD TVC Score sampleName cDnaHGVS proteinHGVS

chr15:g.45007622TACTCCAAAGATTCAGGTT>- B2M frameshift deletion 28.6 NA NA 177 RELYSE_GHE0002

_PHR03B014 NM_004048:exon2:c.69_87del p.23_29del

chr15:g.45003773T>G B2M nonsynonymous SNV 22.5 0.00 3.06 152 RELYSE_GHE0047

_PHR39B020 NM_004048:exon1:c.T29G p.L10R

chr15:g.45007741GA>- B2M frameshift deletion 56.6 NA NA 519 RELYSE_GHE0061_PHR06B078 NM_004048:exon2:c.188_189del p.63_63del

chr15:g.45003746T>C B2M nonsynonymous SNV 47.1 0.00 3.54 293 RELYSE_GHE0092

_PHR02B009 NM_004048:exon1:c.T2C p.M1T

chr15:g.45007811C>G B2M stopgain SNV 30.2 0.11 2.91 499 RELYSE_GHE0114_PHR39B001 NM_004048:exon2:c.C258G p.Y86X

chr15:g.45003746T>A B2M nonsynonymous SNV 19.4 0.00 4.09 82 RELYSE_GHE0194

_PHR02B023 NM_004048:exon1:c.T2A p.M1K


_PHR02B075 NM_004048:exon1:c.T2G p.M1R

chr15:g.45007643C>G B2M stopgain SNV 20.0 1.00 2.51 118 RELYSE_GHE0197_PHR02B075 NM_004048:exon2:c.C90G p.Y30X

chr15:g.45003766G>- B2M frameshift deletion 19.6 NA NA 109 RELYSE_GHE0219_PHR03B037 NM_004048:exon1:c.22delG p.A8fs




_PHR02B054.2 NM_004048:exon1:c.T2G p.M1R


_PHR02B054.2 NM_004048:exon2:c.T86A p.V29D

chr15:g.45003747G>A B2M nonsynonymous SNV 43.8 0.00 4.57 483 RELYSE_GHE0427

_PHR06B96 NM_004048:exon1:c.G3A p.M1I

chr15:g.45003812G>C B2M splicing 44.6 NA 1.82 878 RELYSE_GHE0535_PHR02B68 NA NA

chr15:g.45003765AG>- B2M frameshift deletion 50.0 NA NA 344 RELYSE_GHE0536_PHR02B069 NM_004048:exon1:c.21_22del p.7_8del

chr15:g.45003767C>G B2M nonsynonymous SNV 81.1 0.00 1.90 1564 RELYSE_GHE0547

_PHR02B066 NM_004048:exon1:c.C23G p.A8G


_PHR02B066 NM_004048:exon1:c.T26A p.V9E



chr15:g.45007863->A B2M frameshift insertion 54.6 NA NA 702 RELYSE_GHE0624

_PHR39B005 NM_004048:exon2:c.311dupA p.H104fs





chr15:g.45007673A>- B2M frameshift deletion 31.5 NA NA 168 RELYSE_GHE0635_PHR01B032 NM_004048:exon2:c.120delA p.S40fs

chr15:g.45003767C>A B2M nonsynonymous SNV 17.6 0.00 2.41 119 RELYSE_GHE0645

_PHR02B008 NM_004048:exon1:c.C23A p.A8D

chr15:g.45003764T>A B2M stopgain SNV 31.4 0.83 4.37 410 RELYSE_GHE0705_PHR02B034 NM_004048:exon1:c.T20A p.L7X

chr15:g.45003812G>A B2M splicing 74.3 NA 1.94 1666 RELYSE_GHE0708_PHR02B082 NA NA

chr15:g.45007873T>A B2M stopgain SNV 36.5 1.00 4.07 1119 RELYSE_GHE0721_PHR39B015 NM_004048:exon2:c.T320A p.L107X

chr15:g.45003745A>G B2M nonsynonymous SNV 26.0 0.00 3.84 137 RELYSE_GHE0809

_PHR06B004 NM_004048:exon1:c.A1G p.M1V




chr15:g.45003745A>T B2M nonsynonymous SNV 9.9 0.00 4.24 97 RELYSE_GHE0997

_PHR07B012 NM_004048:exon1:c.A1T p.M1L

chr15:g.45003781CT>- B2M frameshift deletion 31.4 NA NA 591 RELYSE_GHE1009_PHR01B044 NM_004048:exon1:c.37_38del p.13_13del

chr15:g.45007806TT>- B2M frameshift deletion 29.4 NA NA 491 RELYSE_GHE1009_PHR01B044 NM_004048:exon2:c.253_254del p.85_85del



chr15:g.45007718TGAAGTTGACTTAC>- B2M frameshift deletion 18.2 NA NA 73 RELYSE_GHE1192





_PHR01B034 NM_004048:exon1:c.T2C p.M1T


_PHR01B005 NM_004048:exon1:c.T26G p.V9G



chr15:g.45007634TCAGGTTTAC>- B2M frameshift deletion 13.2 NA NA 34 RELYSE_GHE1536



_PHR02B046 NM_004048:exon1:c.T44C p.L15P

chr15:g.45003740C>G B2M UTR5 10.3 NA NA 50 RELYSE_GHE1554_PHR02B045 NA NA

chr15:g.45003764T>G B2M stopgain SNV 10.3 0.83 4.26 50 RELYSE_GHE1554_PHR02B045 NM_004048:exon1:c.T20G p.L7X




chr15:g.45003781CT>- B2M frameshift deletion 13.7 NA NA 94 RELYSE_GHE2096_PHR05B016 NM_004048:exon1:c.37_38del p.13_13del



chr18:g.60985574C>T BCL2 nonsynonymous SNV 56.4 0.00 2.86 1093 RELYSE_GHE0015

_PHR01B045 NM_000633:exon2:c.G326A p.R109H

chr18:g.60985861C>A BCL2 nonsynonymous SNV 6.4 0.07 1.88 39 RELYSE_GHE0218

_PHR03B032 NM_000633:exon2:c.G39T p.E13D


_PHR03B032 NM_000633:exon2:c.G28A p.D10N

chr18:g.60985562G>C BCL2 nonsynonymous SNV 33.6 0.02 0.87 286 RELYSE_GHE0241


chr18:g.60985847T>A BCL2 nonsynonymous SNV 26.2 0.81 1.86 333 RELYSE_GHE0241

_PHR06B041 NM_000633:exon2:c.A53T p.Y18F

chr18:g.60985526G>A BCL2 nonsynonymous SNV 56.8 0.00 2.48 2242 RELYSE_GHE0358

_PHR01B039 NM_000633:exon2:c.C374T p.T125I

chr18:g.60985362A>T BCL2 nonsynonymous SNV 30.5 0.00 3.29 295 RELYSE_GHE0423

_PHR06B045 NM_000633:exon2:c.T538A p.Y180N

chr18:g.60985879TG>CA BCL2 nonframeshift substitution 59.2 NA NA 3429 RELYSE_GHE0440

_PHR06B97 NM_000633:exon2:c.20_21TG

chr18:g.60985879TG>CG BCL2 nonframeshift substitution 59.2 NA NA 3429 RELYSE_GHE0440

_PHR06B97 NM_000633:exon2:c.20_21CG

chr18:g.60985692A>G BCL2 nonsynonymous SNV 37.5 0.05 1.52 66 RELYSE_GHE0463

_PHR06B070 NM_000633:exon2:c.T208C p.S70P


_PHRC03B020 NM_000633:exon2:c.C20T p.T7I

chr18:g.60985883C>G BCL2 nonsynonymous SNV 42.5 0.09 2.52 693 RELYSE_GHE0519

_PHRC03B020 NM_000633:exon2:c.G17C p.R6T

chr18:g.60985840A>C BCL2 nonsynonymous SNV 20.1 0.15 2.67 160 RELYSE_GHE0622

_PHRC03B016 NM_000633:exon2:c.T60G p.H20Q


_PHRC03B016 NM_000633:exon2:c.C34T p.R12W


_PHRC03B016 NM_000633:exon2:c.G28A p.D10N




_PHR02B036 NM_000633:exon2:c.G253C p.A85P

chr18:g.60985508GC>CT BCL2 nonframeshift substitution 46.0 NA NA 1846 RELYSE_GHE0923

_PHR06B064NM_000633:exon2:c.391_392AG


_PHR06B085 NM_000633:exon2:c.G39C p.E13D


_PHR06B085 NM_000633:exon2:c.G23C p.G8A

chr18:g.60985833GC>AT BCL2 nonframeshift substitution 71.2 NA NA 472 RELYSE_GHE1028

_PHR06B017 NM_000633:exon2:c.66_67AT

chr18:g.60985879TG>CA BCL2 nonframeshift substitution 16.7 NA NA 614 RELYSE_GHE1028

_PHR06B017 NM_000633:exon2:c.20_21TG

chr18:g.60985879TG>CG BCL2 nonframeshift substitution 16.7 NA NA 614 RELYSE_GHE1028

_PHR06B017 NM_000633:exon2:c.20_21CG

chr18:g.60985507GG>TT BCL2 nonframeshift substitution 23.1 NA NA 592 RELYSE_GHE1036

_PHR07B004.2NM_000633:exon2:c.392_393AA


_PHR02B047 NM_000633:exon2:c.C256T p.L86F


_PHR03B024 NM_000633:exon2:c.G354C p.Q118H


_PHR06B018 NM_000633:exon2:c.C358T p.H120Y


_PHR06B018 NM_000633:exon2:c.G17C p.R6T



chr18:g.60985542G>T BCL2 nonsynonymous SNV 29.8 0.00 2.74 366 RELYSE_GHE1438

_PHR06B103 NM_000633:exon2:c.C358A p.H120N

chr18:g.60795838T>C BCL2 UTR3 19.7 NA NA 337 RELYSE_GHE1553_PHR02B046 NA NA







chr18:g.60985870A>T BCL2 nonsynonymous SNV 30.3 0.08 3.55 342 RELYSE_GHE2023

_PHR05B032 NM_000633:exon2:c.T30A p.D10E





chr7:g.140453136A>T BRAF nonsynonymous SNV 24.2 0.00 4.49 52 RELYSE_GHE0463

_PHR06B070 NM_004333:exon15:c.T1799A p.V600E

chr7:g.2978320C>T CARD11 nonsynonymous SNV 83.3 0.01 5.22 308 RELYSE_GHE0275

_PHR06B99 NM_032415:exon7:c.G1010A p.R337Q

chr7:g.2979534T>G CARD11 nonsynonymous SNV 27.6 0.10 4.95 384 RELYSE_GHE0395

_PHRC39B003 NM_032415:exon6:c.A713C p.K238T

chr7:g.2983958T>C CARD11 nonsynonymous SNV 61.0 0.79 2.81 2062 RELYSE_GHE0400

_PHRC06B015 NM_032415:exon5:c.A572G p.N191S

chr7:g.2979483TTC>- CARD11 nonframeshift deletion 26.7 NA NA 152 RELYSE_GHE0463


chr7:g.2984141A>T CARD11 nonsynonymous SNV 22.9 0.02 4.58 525 RELYSE_GHE0463

_PHR06B070 NM_032415:exon5:c.T389A p.F130Y


_PHR06B031 NM_032415:exon4:c.A349C p.T117P

chr7:g.2985468A>G CARD11 nonsynonymous SNV 45.7 0.33 3.23 349 RELYSE_GHE0629

_PHR01B024 NM_032415:exon4:c.T343C p.F115L


_PHRC06B021 NM_032415:exon6:c.A746C p.Q249P

chr7:g.2985545A>T CARD11 nonsynonymous SNV 61.3 0.13 2.34 1545 RELYSE_GHE0685

_PHRC06B021 NM_032415:exon4:c.T266A p.V89E


_PHR06B057 NM_032415:exon5:c.A572G p.N191S

chr7:g.2985465A>G CARD11 nonsynonymous SNV 56.0 0.01 4.49 925 RELYSE_GHE0693



_PHR03B033 NM_032415:exon8:c.A1019G p.Y340C

chr7:g.2985466G>T CARD11 nonsynonymous SNV 34.5 0.33 2.27 398 RELYSE_GHE0857

_PHR06B038 NM_032415:exon4:c.C345A p.F115L

chr7:g.2984142A>C CARD11 nonsynonymous SNV 43.1 0.09 4.07 1974 RELYSE_GHE0988

_PHR06B086.2 NM_032415:exon5:c.T388G p.F130V








_PHR01B049 NM_032415:exon4:c.A349C p.T117P

chr7:g.2977613G>T CARD11 nonsynonymous SNV 16.5 0.21 4.55 282 RELYSE_GHE1349

_PHR02B086 NM_032415:exon8:c.C1071A p.D357E


_PHR01B034 NM_032415:exon9:c.A1202C p.D401A



chr7:g.2977614T>A CARD11 nonsynonymous SNV 41.2 0.01 4.57 981 RELYSE_GHE1373

_PHR07B017 NM_032415:exon8:c.A1070T p.D357V



chr7:g.2977652CTT>- CARD11 nonframeshift deletion 32.6 NA NA 386 RELYSE_GHE2030

_PHR05B005NM_032415:exon8:c.1030_1032del p.344_344del

chr7:g.2984147G>A CARD11 nonsynonymous SNV 27.7 0.07 3.19 713 RELYSE_GHE2030

_PHR05B005 NM_032415:exon5:c.C383T p.T128M

chr1:g.117078637A>C CD58 stopgain SNV 26.4 0.69 2.82 699 RELYSE_GHE0057_PHR06B077 NM_001779:exon3:c.T578G p.L193X

chr1:g.117078761G>A CD58 stopgain SNV 8.9 0.69 2.23 73 RELYSE_GHE0228_PHR39B022 NM_001779:exon3:c.C454T p.R152X

chr1:g.117087145A>- CD58 stopgain SNV 81.0 NA NA 655 RELYSE_GHE0236_PHR06B043 NM_001779:exon2:c.152delT p.L51X

chr1:g.117087180C>- CD58 frameshift deletion 41.3 NA NA 733 RELYSE_GHE0368_PHR02B054.2 NM_001779:exon2:c.117delG p.G39fs

chr1:g.117113597C>G CD58 UTR5 21.4 NA NA 92 RELYSE_GHE0368_PHR02B054.2 NA NA

chr1:g.117078761G>A CD58 stopgain SNV 40.7 0.69 2.23 1381 RELYSE_GHE0415_PHRC06B013 NM_001779:exon3:c.C454T p.R152X

chr1:g.117113592C>T CD58 nonsynonymous SNV 7.7 0.00 2.51 37 RELYSE_GHE0426


chr1:g.117078817A>T CD58 stopgain SNV 14.6 0.75 1.96 321 RELYSE_GHE0430_PHR06B94 NM_001779:exon3:c.T398A p.L133X

chr1:g.117086932C>T CD58 splicing 21.0 NA 1.81 105 RELYSE_GHE0430_PHR06B94 NA NA

chr1:g.117087215AGCTGAT>- CD58 frameshift deletion 87.8 NA NA 1099 RELYSE_GHE0436


chr1:g.117086990A>T CD58 nonsynonymous SNV 30.7 0.00 1.98 1403 RELYSE_GHE0491


chr1:g.117078654A>T CD58 stopgain SNV 12.4 1.00 3.05 112 RELYSE_GHE0501_PHR06B062 NM_001779:exon3:c.T561A p.C187X

chr1:g.117113567C>T CD58 nonsynonymous SNV 22.2 0.00 2.08 174 RELYSE_GHE0507

_PHRC01B020 NM_001779:exon1:c.G28A p.A10T

chr1:g.117113542CAGAC>- CD58 frameshift deletion 24.6 NA NA 112 RELYSE_GHE0645


chr1:g.117086994A>- CD58 frameshift deletion 74.3 NA NA 1375 RELYSE_GHE0685_PHRC06B021 NM_001779:exon2:c.303delT p.D101fs

chr1:g.117078739C>T CD58 stopgain SNV 19.7 1.00 3.11 314 RELYSE_GHE0705_PHR02B034 NM_001779:exon3:c.G476A p.W159X





chr1:g.117087215A>G CD58 nonsynonymous SNV 60.0 0.27 2.02 1336 RELYSE_GHE0771

_PHR02B035 NM_001779:exon2:c.T82C p.C28R

chr1:g.117113594T>C CD58 nonsynonymous SNV 31.7 0.00 2.08 104 RELYSE_GHE0771


chr1:g.117087118TT>- CD58 frameshift deletion 36.5 NA NA 488 RELYSE_GHE0908_PHR03B035 NM_001779:exon2:c.178_179del p.60_60del

chr1:g.117087123T>G CD58 nonsynonymous SNV 89.7 0.33 2.49 1710 RELYSE_GHE1104

_PHR03B036 NM_001779:exon2:c.A174C p.K58N

chr1:g.117113534GCAGCAG>- CD58 frameshift deletion 38.7 NA NA 97 RELYSE_GHE1287


chr1:g.117087059T>- CD58 frameshift deletion 16.8 NA NA 264 RELYSE_GHE1390_PHR03B022 NM_001779:exon2:c.238delA p.R80fs

chr1:g.117086942AAAG>- CD58 frameshift deletion 40.0 NA NA 148 RELYSE_GHE1553


chr1:g.117113594T>C CD58 nonsynonymous SNV 30.9 0.00 2.08 154 RELYSE_GHE1553


chr1:g.117087007G>T CD58 stopgain SNV 11.3 0.84 2.62 188 RELYSE_GHE1554_PHR02B045 NM_001779:exon2:c.C290A p.S97X

chr1:g.117087012T>G CD58 nonsynonymous SNV 10.8 0.01 2.16 124 RELYSE_GHE1554

_PHR02B045 NM_001779:exon2:c.A285C p.L95F

chr19:g.42385043C>T CD79A nonsynonymous SNV 42.2 0.00 3.70 961 RELYSE_GHE0733

_PHR06B054 NM_001783:exon5:c.C677T p.P226L

chr19:g.42385020AGG>- CD79A nonframeshift deletion 47.4 NA NA 2273 RELYSE_GHE1225


chr17:g.62006798T>A CD79B nonsynonymous SNV 27.7 0.00 2.93 376 RELYSE_GHE0061


chr17:g.62006659->T CD79B frameshift insertion 30.2 NA NA 345 RELYSE_GHE0134

_PHR06B019 NM_000626:exon6:c.616dupA p.T206fs

chr17:g.62006663C>T CD79B nonsynonymous SNV 30.4 0.01 4.07 577 RELYSE_GHE0134

_PHR06B019 NM_000626:exon6:c.G613A p.A205T

chr17:g.62006798T>C CD79B nonsynonymous SNV 40.4 0.00 2.15 360 RELYSE_GHE0150


chr17:g.62006826T>A CD79B stopgain SNV 37.9 1.00 1.64 792 RELYSE_GHE0300_PHR07B007 NM_000626:exon5:c.A559T p.K187X


_PHR07B15 NM_000626:exon6:c.A656G p.K219R

chr17:g.62006798T>G CD79B nonsynonymous SNV 39.3 0.00 2.33 633 RELYSE_GHE0454

_PHR07B15 NM_000626:exon5:c.A587C p.Y196S

chr17:g.62006794C>G CD79B nonsynonymous SNV 27.9 NA 2.94 509 RELYSE_GHE0459


chr17:g.62006670GT>- CD79B frameshift deletion 75.4 NA NA 3245 RELYSE_GHE0717_PHR39B016 NM_000626:exon6:c.605_606del p.202_202del

chr17:g.62006799A>T CD79B nonsynonymous SNV 28.8 0.00 2.54 425 RELYSE_GHE0808






chr17:g.62006799A>G CD79B nonsynonymous SNV 41.0 0.00 2.48 494 RELYSE_GHE0842

_PHR03B033 NM_000626:exon5:c.T586C p.Y196H



chr17:g.62006805->AT CD79B frameshift insertion 25.1 NA NA 486 RELYSE_GHE0860

_PHR06B050NM_000626:exon5:c.579_580insAT p.H194fs

chr17:g.62006558G>C CD79B UTR3 61.5 NA NA 4656 RELYSE_GHE0925_PHR06B067 NA NA




_PHR07B004.2 NM_000626:exon5:c.T586A p.Y196N


_PHR07B009.2 NM_000626:exon5:c.T586C p.Y196H



chr17:g.62006798T>G CD79B nonsynonymous SNV 57.5 0.00 2.33 1846 RELYSE_GHE1413


chr17:g.62006655A>T CD79B stopgain SNV 38.2 1.00 1.97 1056 RELYSE_GHE1553_PHR02B046 NM_000626:exon6:c.T621A p.Y207X


_PHR05B022.2 NM_000626:exon5:c.T586C p.Y196H

chr17:g.62006799A>C CD79B nonsynonymous SNV 21.9 0.00 2.34 145 RELYSE_GHE2030

_PHR05B005 NM_000626:exon5:c.T586G p.Y196D

chr17:g.62006680A>C CD79B nonsynonymous SNV 81.9 0.00 3.23 3437 RELYSE_GHE2037




chr9:g.21968652G>C CDKN2A UTR3 52.2 NA NA 593 RELYSE_GHE0522_PHRC06B025 NA NA

chr9:g.21968652G>C CDKN2A UTR3 49.3 NA NA 658 RELYSE_GHE0810_PHR06B002 NA NA

chr9:g.21968652G>C CDKN2A UTR3 94.0 NA NA 1839 RELYSE_GHE2019_PHR05B030 NA NA

chr9:g.22008933C>T CDKN2B nonsynonymous SNV 69.4 0.02 3.00 426 RELYSE_GHE0501

_PHR06B062 NM_004936:exon1:c.G20A p.G7D

chr9:g.22008814C>G CDKN2B nonsynonymous SNV 36.0 0.00 4.80 315 RELYSE_GHE0877

_PHR01B026.2 NM_004936:exon1:c.G139C p.G47R

chr16:g.11003041AG>- CIITA frameshift deletion 67.6 NA NA 1522 RELYSE_GHE0061_PHR06B078

NM_000246:exon12:c.2813_2814del p.938_938del

chr16:g.10971131G>A CIITA UTR5 6.3 NA NA 25 RELYSE_GHE0202_PHR02B85 NA NA

chr16:g.10997716C>T CIITA nonsynonymous SNV 83.1 0.04 3.55 1610 RELYSE_GHE0236

_PHR06B043 NM_000246:exon9:c.C901T p.P301S

chr16:g.11000395A>T CIITA nonsynonymous SNV 13.0 0.63 2.26 202 RELYSE_GHE0293


chr16:g.11000517CG>- CIITA frameshift deletion 30.8 NA NA 471 RELYSE_GHE0356_PHR01B011

NM_000246:exon11:c.1168_1169del p.390_390del

chr16:g.11001748CACTGCGGGCGCGGCAGCTGCTGGAGCTGCTGCACTGCGCC>-

CIITA frameshift deletion 44.4 NA NA 50 RELYSE_GHE0356_PHR01B011

NM_000246:exon11:c.2399_2439del p.800_813del


_PHR02B054.2 NM_000246:exon1:c.C17T p.P6L


_PHR02B054.2 NM_000246:exon1:c.C26T p.A9V

chr16:g.11001588T>- CIITA frameshift deletion 30.7 NA NA 172 RELYSE_GHE0427_PHR06B96 NM_000246:exon11:c.2239delT p.Y747fs

chr16:g.11016266T>A CIITA nonsynonymous SNV 9.9 0.00 2.34 67 RELYSE_GHE0427

_PHR06B96 NM_000246:exon18:c.T3236A p.V1079D

chr16:g.11016271T>A CIITA nonsynonymous SNV 10.4 0.55 2.03 74 RELYSE_GHE0427


chr16:g.11017092A>G CIITA nonsynonymous SNV 9.4 0.08 2.39 45 RELYSE_GHE0430

_PHR06B94 NM_000246:exon19:c.A3325G p.T1109A


chr16:g.10971239G>C CIITA nonsynonymous SNV 20.9 0.01 2.33 235 RELYSE_GHE0536

_PHR02B069 NM_000246:exon1:c.G52C p.G18R

chr16:g.10971190G>A CIITA nonsynonymous SNV 5.3 0.00 1.58 23 RELYSE_GHE0602

_PHRC01B017 NM_000246:exon1:c.G3A p.M1I


_PHRC01B017 NM_000246:exon1:c.G5A p.R2H



chr16:g.10971104C>T CIITA UTR5 64.9 NA NA 720 RELYSE_GHE0629_PHR01B024 NA NA

chr16:g.11016281T>G CIITA nonsynonymous SNV 33.9 0.01 3.72 681 RELYSE_GHE0635

_PHR01B032 NM_000246:exon18:c.T3251G p.F1084C


chr16:g.10971239G>C CIITA nonsynonymous SNV 25.4 0.01 2.33 312 RELYSE_GHE0645

_PHR02B008 NM_000246:exon1:c.G52C p.G18R



chr16:g.10971219CCTACC>- CIITA nonframeshift

deletion 81.5 NA NA 873 RELYSE_GHE0708_PHR02B082 NM_000246:exon1:c.32_37del p.11_13del



chr16:g.11000658T>C CIITA nonsynonymous SNV 32.5 0.00 2.87 508 RELYSE_GHE0992

_PHR06B084 NM_000246:exon11:c.T1309C p.W437R

chr16:g.11001304->C CIITA frameshift insertion 39.0 NA NA 172 RELYSE_GHE1009

_PHR01B044 NM_000246:exon11:c.1956dupC p.S652fs


_PHR01B049 NM_000246:exon11:c.G1591A p.G531S


chr16:g.11016045CG>TG CIITA nonframeshift substitution 37.1 NA NA 1422 RELYSE_GHE1374

_PHR01B005NM_000246:exon17:c.3171_3172TG


_PHR03B002 NM_000246:exon1:c.C4T p.R2C


chr16:g.10998665G>A CIITA stopgain SNV 12.9 0.40 3.57 20 RELYSE_GHE1390_PHR03B022 NM_000246:exon10:c.G1002A p.W334X

chr16:g.10971165T>G CIITA UTR5 24.2 NA NA 188 RELYSE_GHE1424_PHR06B029 NA NA






chr16:g.11010256A>- CIITA frameshift deletion 27.1 NA NA 309 RELYSE_GHE2106_PHR05B018 NM_000246:exon15:c.3002delA p.D1001fs

chr16:g.11010259A>G CIITA nonsynonymous SNV 28.0 0.02 3.42 249 RELYSE_GHE2106

_PHR05B018 NM_000246:exon15:c.A3005G p.E1002G

chr16:g.3842075G>A CREBBP stopgain SNV 46.9 1.00 12.11 674 RELYSE_GHE0049_PHR06B089.2 NM_004380:exon5:c.C1237T p.R413X

chr16:g.3786146A>G CREBBP nonsynonymous SNV 13.2 0.01 3.83 289 RELYSE_GHE0052

_PHR06B074 NM_004380:exon28:c.T4619C p.F1540S

chr16:g.3820762G>A CREBBP stopgain SNV 26.4 0.43 13.27 615 RELYSE_GHE0057_PHR06B077 NM_004380:exon14:c.C2689T p.Q897X

chr16:g.3778744T>A CREBBP stopgain SNV 5.9 1.00 17.36 43 RELYSE_GHE0202_PHR02B85 NM_004380:exon31:c.A6304T p.K2102X

chr16:g.3788645T>A CREBBP nonsynonymous SNV 14.1 0.00 3.33 101 RELYSE_GHE0202

_PHR02B85 NM_004380:exon26:c.A4309T p.I1437F

chr16:g.3900384C>G CREBBP nonsynonymous SNV 59.6 0.83 3.94 1413 RELYSE_GHE0216

_PHR03B021 NM_004380:exon2:c.G712C p.V238L

chr16:g.3790515C>T CREBBP nonsynonymous SNV 26.4 0.50 1.52 273 RELYSE_GHE0229


chr16:g.3788666A>C CREBBP nonsynonymous SNV 35.4 0.00 3.64 459 RELYSE_GHE0241


chr16:g.3786787G>A CREBBP nonsynonymous SNV 30.8 0.00 4.27 343 RELYSE_GHE0423



_PHR06B045 NM_004380:exon26:c.A4306T p.S1436C

chr16:g.3786649A>G CREBBP splicing 31.0 NA 3.18 104 RELYSE_GHE0440_PHR06B97 NA NA










_PHRC03B020 NM_004380:exon14:c.T2543C p.V848A



chr16:g.3820723T>C CREBBP nonsynonymous SNV 54.3 0.84 1.61 727 RELYSE_GHE0562






_PHR02B082 NM_004380:exon20:c.C3767T p.S1256L



chr16:g.3817750G>C CREBBP stopgain SNV 66.3 0.27 14.36 725 RELYSE_GHE0733_PHR06B054 NM_004380:exon16:c.C3221G p.S1074X

chr16:g.3843409A>T CREBBP stopgain SNV 35.9 1.00 12.58 1490 RELYSE_GHE0771_PHR02B035 NM_004380:exon4:c.T1194A p.C398X



chr16:g.3790421A>T CREBBP nonsynonymous SNV 44.4 0.00 4.14 1155 RELYSE_GHE0834

_PHR01B043 NM_004380:exon24:c.T4112A p.V1371D


_PHR01B043 NM_004380:exon3:c.T972A p.N324K



chr16:g.3789586T>G CREBBP nonsynonymous SNV 73.9 0.00 3.69 860 RELYSE_GHE0883

_PHR01B042.2 NM_004380:exon25:c.A4273C p.N1425H

chr16:g.3842042G>A CREBBP stopgain SNV 42.8 1.00 12.77 607 RELYSE_GHE0923_PHR06B064 NM_004380:exon5:c.C1270T p.R424X

chr16:g.3781324AGG>- CREBBP nonframeshift deletion 41.9 NA NA 239 RELYSE_GHE0976


chr16:g.3807330A>T CREBBP stopgain SNV 36.7 1.00 15.67 174 RELYSE_GHE1028_PHR06B017 NM_004380:exon19:c.T3657A p.C1219X

chr16:g.3817719A>T CREBBP splicing 40.0 NA 2.06 97 RELYSE_GHE1028_PHR06B017 NA NA


_PHR02B081 NM_004380:exon26:c.T4308A p.S1436R

chr16:g.3832811G>A CREBBP stopgain SNV 26.1 1.00 12.78 36 RELYSE_GHE1066_PHR06B059 NM_004380:exon6:c.C1447T p.R483X



chr16:g.3819201C>A CREBBP stopgain SNV 16.5 0.42 12.61 154 RELYSE_GHE1437_PHR06B018 NM_004380:exon15:c.G3034T p.E1012X







chr16:g.3781324AGG>- CREBBP nonframeshift deletion 37.7 NA NA 348 RELYSE_GHE2002


chr16:g.3820970A>- CREBBP frameshift deletion 60.0 NA NA 562 RELYSE_GHE2023_PHR05B032 NM_004380:exon14:c.2481delT p.A827fs



chr16:g.3807292T>- CREBBP frameshift deletion 38.4 NA NA 716 RELYSE_GHE2098_PHR05B031 NM_004380:exon19:c.3695delA p.N1232fs

chr16:g.3786696->T CREBBP frameshift insertion 30.4 NA NA 200 RELYSE_GHE2100

_PHR05B015 NM_004380:exon27:c.4514dupA p.K1505fs


chr22:g.41542780T>G EP300 nonsynonymous SNV 59.1 0.28 3.36 855 RELYSE_GHE0061

_PHR06B078 NM_001429:exon11:c.T2091G p.S697R

chr22:g.41566522T>A EP300 nonsynonymous SNV 19.3 0.00 4.33 227 RELYSE_GHE0134


chr22:g.41574310C>T EP300 nonsynonymous SNV 46.9 0.38 1.65 1446 RELYSE_GHE0169


chr22:g.41551061G>A EP300 nonsynonymous SNV 18.2 0.00 4.36 21 RELYSE_GHE0197




chr22:g.41546158C>A EP300 nonsynonymous SNV 51.4 0.39 2.19 1114 RELYSE_GHE0228

_PHR39B022 NM_001429:exon14:c.C2773A p.P925T


_PHR06B040.2 NM_001429:exon11:c.T2091G p.S697R




_PHR02B84 NM_001429:exon31:c.G5501A p.S1834N

chr22:g.41566520G>C EP300 nonsynonymous SNV 19.3 0.00 3.70 333 RELYSE_GHE0397

_PHRC06B014 NM_001429:exon27:c.G4397C p.W1466S



chr22:g.41566496CCA>- EP300 nonframeshift deletion 44.6 NA NA 264 RELYSE_GHE0440


chr22:g.41566522T>A EP300 nonsynonymous SNV 10.7 0.00 4.33 71 RELYSE_GHE0501




chr22:g.41525969T>C EP300 nonsynonymous SNV 47.5 0.04 4.75 446 RELYSE_GHE0547



_PHR01B015 NM_001429:exon31:c.C5222T p.S1741F

chr22:g.41533775A>C EP300 nonsynonymous SNV 15.2 0.06 4.96 188 RELYSE_GHE0609

_PHR02B014 NM_001429:exon8:c.A1741C p.N581H




_PHR06B003 NM_001429:exon14:c.C2529A p.H843Q





chr22:g.41574561->C EP300 frameshift insertion 95.8 NA NA 2184 RELYSE_GHE0865

_PHR06B061 NM_001429:exon31:c.6847dupC p.Q2282fs






_PHR01B026.2 NM_001429:exon14:c.C2773A p.P925T

chr22:g.41489103G>C EP300 splicing 38.8 NA 4.34 344 RELYSE_GHE0908_PHR03B035 NA NA


_PHR06B064 NM_001429:exon17:c.T3236C p.V1079A

chr22:g.41543839A>C EP300 splicing 31.0 NA 3.54 295 RELYSE_GHE0992_PHR06B084 NA NA

chr22:g.41565564G>T EP300 nonsynonymous SNV 36.6 0.00 3.19 1043 RELYSE_GHE1036

_PHR07B004.2 NM_001429:exon26:c.G4230T p.R1410S





chr22:g.41565524A>C EP300 nonsynonymous SNV 31.2 0.00 4.71 505 RELYSE_GHE1392


chr22:g.41574561->C EP300 frameshift insertion 96.4 NA NA 2972 RELYSE_GHE1560

_PHR07B002 NM_001429:exon31:c.6847dupC p.Q2282fs







chr22:g.41562653A>G EP300 nonsynonymous SNV 11.8 0.02 3.98 32 RELYSE_GHE2109

_PHR05B025 NM_001429:exon23:c.A3857G p.N1286S

chr7:g.148508728A>T EZH2 nonsynonymous SNV 20.0 0.00 4.94 233 RELYSE_GHE0114

_PHR39B001NM_001203247:exon16:c.T1921A p.Y641N

chr7:g.148508727T>A EZH2 nonsynonymous SNV 27.0 0.00 4.91 664 RELYSE_GHE0218

_PHR03B032NM_001203247:exon16:c.A1922T p.Y641F

chr7:g.148508727T>G EZH2 nonsynonymous SNV 4.5 0.00 4.62 22 RELYSE_GHE0294

_PHR02B055NM_001203247:exon16:c.A1922C p.Y641S



chr7:g.148506437G>A EZH2 nonsynonymous SNV 21.6 0.08 5.46 403 RELYSE_GHE0463

_PHR06B070NM_001203247:exon18:c.C2060T p.A687V






_PHRC03B016NM_001203247:exon16:c.T1921A p.Y641N







chr7:g.148506437G>A EZH2 nonsynonymous SNV 27.3 0.08 5.46 383 RELYSE_GHE0993


chr7:g.148508728A>G EZH2 nonsynonymous SNV 15.5 0.00 4.90 288 RELYSE_GHE1009

_PHR01B044NM_001203247:exon16:c.T1921C p.Y641H













chr13:g.41240286A>G FOXO1 nonsynonymous SNV 50.0 0.01 2.88 16 RELYSE_GHE0004


chr13:g.41240279G>A FOXO1 nonsynonymous SNV 34.8 0.00 3.69 139 RELYSE_GHE0241


chr13:g.41240281G>C FOXO1 nonsynonymous SNV 34.8 0.00 1.91 139 RELYSE_GHE0241

_PHR06B041 NM_002015:exon1:c.C69G p.C23W

chr13:g.41239826C>G FOXO1 nonsynonymous SNV 14.2 0.00 4.75 333 RELYSE_GHE0258

_PHR06B100 NM_002015:exon1:c.G524C p.S175T

chr13:g.41133830T>C FOXO1 nonsynonymous SNV 48.8 0.00 3.60 1373 RELYSE_GHE0294

_PHR02B055 NM_002015:exon2:c.A1798G p.S600G






_PHR06B054 NM_002015:exon1:c.C77G p.P26R


_PHR07B005 NM_002015:exon2:c.G1126C p.D376H


_PHR01B042.2 NM_002015:exon1:c.C220G p.L74V

chr13:g.41133872C>T FOXO1 nonsynonymous SNV 50.2 0.52 4.44 1288 RELYSE_GHE1017






chr13:g.41240342T>A FOXO1 nonsynonymous SNV 30.8 0.00 1.79 22 RELYSE_GHE1018

_PHR02B072 NM_002015:exon1:c.A8T p.E3V

chr13:g.41240279G>A FOXO1 nonsynonymous SNV 73.1 0.00 3.69 206 RELYSE_GHE1028


chr13:g.41240286A>G FOXO1 nonsynonymous SNV 35.7 0.01 2.88 75 RELYSE_GHE1376





_PHR05B032 NM_002015:exon1:c.C61G p.R21G

chr17:g.63052631C>G GNA13 nonsynonymous SNV 44.0 0.00 3.84 88 RELYSE_GHE0001




chr17:g.63010948C>T GNA13 splicing 12.2 NA 2.28 62 RELYSE_GHE0293_PHR02B042 NA NA

chr17:g.63052509A>T GNA13 nonsynonymous SNV 88.5 0.00 3.21 4805 RELYSE_GHE0368

_PHR02B054.2 NM_006572:exon1:c.T203A p.M68K



chr17:g.63052554A>G GNA13 nonsynonymous SNV 47.7 0.00 2.92 496 RELYSE_GHE0427


chr17:g.63052633G>A GNA13 stopgain SNV 19.2 0.01 7.33 27 RELYSE_GHE0609_PHR02B014 NM_006572:exon1:c.C79T p.Q27X



_PHR01B032 NM_006572:exon2:c.G308C p.R103P

chr17:g.63049685T>C GNA13 nonsynonymous SNV 49.7 0.03 3.39 761 RELYSE_GHE0659

_PHR39B010 NM_006572:exon2:c.A445G p.I149V



chr17:g.63052533C>T GNA13 nonsynonymous SNV 38.9 0.00 2.77 654 RELYSE_GHE0705





chr17:g.63010719G>A GNA13 nonsynonymous SNV 6.9 0.00 5.06 26 RELYSE_GHE0842


chr17:g.63049823G>A GNA13 stopgain SNV 7.7 0.21 5.87 25 RELYSE_GHE0853_PHR06B068 NM_006572:exon2:c.C307T p.R103X

chr17:g.63010535A>C GNA13 nonsynonymous SNV 26.2 0.00 4.36 271 RELYSE_GHE0857


chr17:g.63010562G>T GNA13 nonsynonymous SNV 17.1 0.00 3.24 313 RELYSE_GHE0857

_PHR06B038 NM_006572:exon4:c.C947A p.P316H

chr17:g.63049720A>- GNA13 frameshift deletion 40.5 NA NA 576 RELYSE_GHE0992_PHR06B084 NM_006572:exon2:c.410delT p.V137fs



chr17:g.63010877->AGTCGTATTCATGGATGCCTTT

GNA13 stopgain SNV 19.7 NA NA 50 RELYSE_GHE1069_PHR06B058

NM_006572:exon4:c.631_632insAAAGGCATCCATGAATACGACT

p.F211_E212delinsX




chr17:g.63049619C>A GNA13 splicing 32.7 NA 4.15 417 RELYSE_GHE1209_PHR06B072 NA NA

chr17:g.63052626CGTTGCTGCTCGGCCT>- GNA13 frameshift deletion 16.7 NA NA 34 RELYSE_GHE1209


chr17:g.63052535G>T GNA13 nonsynonymous SNV 31.8 0.01 2.63 482 RELYSE_GHE1352

_PHR01B034 NM_006572:exon1:c.C177A p.S59R




chr17:g.63010781A>T GNA13 nonsynonymous SNV 40.8 0.00 4.56 732 RELYSE_GHE1376

_PHR03B002 NM_006572:exon4:c.T728A p.I243K




_PHR03B022 NM_006572:exon4:c.G703C p.E235Q


_PHR03B022 NM_006572:exon4:c.A688G p.R230G

chr17:g.63014369A>C GNA13 splicing 31.5 NA 4.26 262 RELYSE_GHE1393_PHR03B023 NA NA


_PHR03B023 NM_006572:exon3:c.A545G p.D182G


_PHR03B023 NM_006572:exon2:c.T455C p.L152S




_PHR06B103 NM_006572:exon1:c.C139T p.R47W





_PHR06B103 NM_006572:exon1:c.G41C p.C14S




_PHR05B016 NM_006572:exon4:c.G799A p.E267K



chr17:g.63010416T>A GNA13 nonsynonymous SNV 61.9 0.00 4.66 3229 RELYSE_GHE2100

_PHR05B015 NM_006572:exon4:c.A1093T p.T365S

chr1:g.23885707G>A ID3 stopgain SNV 16.8 0.00 8.10 195 RELYSE_GHE0024_PHR02B062 NM_002167:exon1:c.C211T p.Q71X

chr1:g.23885709A>T ID3 nonsynonymous SNV 14.6 0.00 4.59 144 RELYSE_GHE0024

_PHR02B062 NM_002167:exon1:c.T209A p.L70Q


_PHR02B025 NM_002167:exon1:c.T296A p.I99N

chr1:g.23885754A>C ID3 nonsynonymous SNV 28.8 0.03 4.51 337 RELYSE_GHE0491

_PHR02B025 NM_002167:exon1:c.T164G p.V55G

chr1:g.23885863C>A ID3 stopgain SNV 33.3 0.06 6.90 84 RELYSE_GHE0491_PHR02B025 NM_002167:exon1:c.G55T p.E19X

chr1:g.23885761C>T ID3 nonsynonymous SNV 13.9 0.10 4.73 95 RELYSE_GHE0501





_PHR02B066 NM_002167:exon1:c.G169A p.G57R

chr1:g.23885752G>A ID3 nonsynonymous SNV 11.0 0.00 4.94 69 RELYSE_GHE0690


chr1:g.23885674CC>GT ID3 nonframeshift substitution 32.4 NA NA 850 RELYSE_GHE0721

_PHR39B015NM_002167:exon1:c.243_244AC


_PHR06B048 NM_002167:exon1:c.T145A p.S49T

chr1:g.23885441C>G ID3 UTR3 30.1 NA NA 660 RELYSE_GHE1553_PHR02B046 NA NA

chr1:g.23885662C>G ID3 nonsynonymous SNV 39.5 0.09 2.44 517 RELYSE_GHE2132


chr6:g.393222C>G IRF4 nonsynonymous SNV 8.9 0.01 4.12 55 RELYSE_GHE0024

_PHR02B062 NM_002460:exon2:c.C70G p.L24V

chr6:g.393142G>A IRF4 UTR5 16.7 NA 3.71 27 RELYSE_GHE0219_PHR03B037 NA NA

chr6:g.394899T>C IRF4 nonsynonymous SNV 41.7 0.00 3.01 1166 RELYSE_GHE0228


chr6:g.407531T>G IRF4 stopgain SNV 38.2 1.00 3.36 329 RELYSE_GHE0275_PHR06B99 NM_002460:exon9:c.T1289G p.L430X

chr6:g.393222C>T IRF4 nonsynonymous SNV 10.3 0.28 4.38 94 RELYSE_GHE0371


chr6:g.393102G>A IRF4 UTR5 45.8 NA NA 222 RELYSE_GHE0454_PHR07B15 NA NA


_PHR07B15 NM_002460:exon2:c.C54G p.S18R





chr6:g.393211G>T IRF4 nonsynonymous SNV 11.7 0.06 5.26 76 RELYSE_GHE0822

_PHR07B005 NM_002460:exon2:c.G59T p.G20V

chr6:g.393279G>A IRF4 nonsynonymous SNV 39.5 0.08 5.78 517 RELYSE_GHE0822




chr6:g.393222C>T IRF4 nonsynonymous SNV 16.5 0.28 4.38 82 RELYSE_GHE0955


chr6:g.393330C>A IRF4 nonsynonymous SNV 17.7 0.27 5.40 64 RELYSE_GHE0955

_PHR06B036 NM_002460:exon2:c.C178A p.Q60K

chr6:g.393102G>A IRF4 UTR5 20.7 NA NA 76 RELYSE_GHE1302_PHR01B049 NA NA

chr6:g.393205G>C IRF4 nonsynonymous SNV 34.9 0.39 5.17 485 RELYSE_GHE1369





_PHR07B003.2 NM_002460:exon3:c.C342G p.S114R

chr6:g.393215C>A IRF4 nonsynonymous SNV 65.0 0.69 2.91 781 RELYSE_GHE2012

_PHR05B008 NM_002460:exon2:c.C63A p.N21K





chr1:g.226923322T>C ITPKB nonsynonymous SNV 20.5 0.00 3.82 199 RELYSE_GHE0025


chr1:g.226923676G>T ITPKB nonsynonymous SNV 42.1 0.05 3.34 475 RELYSE_GHE0028


chr1:g.226923779G>A ITPKB nonsynonymous SNV 53.4 0.17 1.60 983 RELYSE_GHE0028


chr1:g.226923714CC>TT ITPKB nonframeshift substitution 78.2 NA NA 1746 RELYSE_GHE0150

_PHR06B082NM_002221:exon2:c.1445_1446AA

chr1:g.226924051C>A ITPKB nonsynonymous SNV 24.7 0.22 2.09 143 RELYSE_GHE0197





_PHR02B075 NM_002221:exon2:c.G212T p.S71I

chr1:g.226924900C>T ITPKB nonsynonymous SNV 33.7 0.62 2.06 277 RELYSE_GHE0202


chr1:g.226924247C>A ITPKB stopgain SNV 13.7 0.50 8.21 127 RELYSE_GHE0219_PHR03B037 NM_002221:exon2:c.G913T p.E305X

chr1:g.226924453G>C ITPKB nonsynonymous SNV 15.4 0.27 2.01 93 RELYSE_GHE0219


chr1:g.226924663C>G ITPKB nonsynonymous SNV 14.4 0.03 3.99 79 RELYSE_GHE0219


chr1:g.226924691G>A ITPKB stopgain SNV 9.6 0.08 9.60 33 RELYSE_GHE0219_PHR03B037 NM_002221:exon2:c.C469T p.Q157X


chr1:g.226924147GGCT>- ITPKB frameshift deletion 55.3 NA NA 392 RELYSE_GHE0228


chr1:g.226924645GC>GA ITPKB nonframeshift substitution 17.6 NA NA 2429 RELYSE_GHE0293

_PHR02B042NM_002221:exon2:c.514_515TC

chr1:g.226924646C>- ITPKB frameshift deletion 82.4 NA NA 2429 RELYSE_GHE0293_PHR02B042 NM_002221:exon2:c.514delG p.A172fs

chr1:g.226924310C>A ITPKB stopgain SNV 41.1 0.02 7.97 722 RELYSE_GHE0393_PHRC39B004 NM_002221:exon2:c.G850T p.G284X








_PHRC03B020 NM_002221:exon2:c.C815T p.A272V




_PHR02B069 NM_002221:exon2:c.C869T p.A290V


_PHRC02B016 NM_002221:exon5:c.C2296T p.R766W

chr1:g.226834996A>T ITPKB nonsynonymous SNV 11.5 0.04 4.20 77 RELYSE_GHE0614

_PHRC02B016 NM_002221:exon4:c.T2118A p.D706E

chr1:g.226924637GCGAGCGAGCCCTGCCCAAACGCGGGCTGCGGGGCGCTTGAATGGCGGA>-

ITPKB frameshift deletion 45.2 NA NA 50 RELYSE_GHE0635_PHR01B032 NM_002221:exon2:c.475_523del p.159_175del

chr1:g.226923242GCTGGTCCAGGGTATGCAGGAAG>-

ITPKB frameshift deletion 21.2 NA NA 50 RELYSE_GHE0645_PHR02B008

NM_002221:exon2:c.1896_1918del p.632_640del









chr1:g.226924856A>T ITPKB nonsynonymous SNV 22.9 0.57 1.52 155 RELYSE_GHE0705

_PHR02B034 NM_002221:exon2:c.T304A p.W102R






_PHR02B037 NM_002221:exon8:c.G2740A p.V914I


chr1:g.226924583G>A ITPKB stopgain SNV 46.8 0.70 7.77 551 RELYSE_GHE1036_PHR07B004.2 NM_002221:exon2:c.C577T p.Q193X




_PHR03B027 NM_002221:exon2:c.C1583T p.S528L



chr1:g.226822380G>C ITPKB nonsynonymous SNV 42.4 0.00 2.56 595 RELYSE_GHE1360

_PHR03B009 NM_002221:exon8:c.C2833G p.L945V





chr1:g.226924267G>T ITPKB nonsynonymous SNV 44.6 0.39 2.19 1110 RELYSE_GHE1438





_PHR06B087 NM_002221:exon2:c.G1027A p.V343M





chr12:g.49420034->CCGCC KMT2D frameshift

insertion 13.0 NA NA 170 RELYSE_GHE0028_PHR02B063

NM_003482:exon48:c.15714_15715insGGCGG p.P5239fs

chr12:g.49426691G>A KMT2D stopgain SNV 28.1 0.00 15.15 870 RELYSE_GHE0049_PHR06B089.2 NM_003482:exon39:c.C11797T p.Q3933X

chr12:g.49434544G>A KMT2D stopgain SNV 66.8 0.00 13.35 1609 RELYSE_GHE0049_PHR06B089.2 NM_003482:exon31:c.C7009T p.Q2337X

chr12:g.49428629G>A KMT2D stopgain SNV 20.2 0.00 18.66 282 RELYSE_GHE0050_PHR06B073 NM_003482:exon35:c.C10321T p.Q3441X

chr12:g.49425474GGGA>- KMT2D frameshift deletion 21.6 NA NA 146 RELYSE_GHE0052


chr12:g.49445971C>A KMT2D stopgain SNV 13.6 0.00 5.22 272 RELYSE_GHE0052_PHR06B074 NM_003482:exon10:c.G1495T p.E499X

chr12:g.49434851G>- KMT2D frameshift deletion 31.8 NA NA 315 RELYSE_GHE0134_PHR06B019 NM_003482:exon31:c.6702delC p.P2234fs


chr12:g.49444210G>A KMT2D nonsynonymous SNV 46.7 0.00 0.13 1108 RELYSE_GHE0194


chr12:g.49419964C>T KMT2D splicing 19.9 NA 4.22 202 RELYSE_GHE0202_PHR02B85 NA NA

chr12:g.49420248GCTA>- KMT2D frameshift deletion 46.1 NA NA 780 RELYSE_GHE0206


chr12:g.49437566C>T KMT2D splicing 41.4 NA 3.36 2809 RELYSE_GHE0206_PHR02B87 NA NA

chr12:g.49420078C>T KMT2D nonsynonymous SNV 52.5 0.00 2.09 852 RELYSE_GHE0216



_PHR03B032 NM_003482:exon48:c.G15095A p.C5032Y

chr12:g.49426323AG>- KMT2D frameshift deletion 37.1 NA NA 627 RELYSE_GHE0218_PHR03B032

NM_003482:exon39:c.12164_12165del p.4055_4055del








chr12:g.49420688G>A KMT2D stopgain SNV 22.7 0.00 24.01 869 RELYSE_GHE0258_PHR06B100 NM_003482:exon48:c.C15061T p.R5021X



chr12:g.49440448TG>- KMT2D frameshift deletion 28.4 NA NA 480 RELYSE_GHE0300_PHR07B007

NM_003482:exon15:c.4361_4362del p.1454_1454del

chr12:g.49444175C>T KMT2D nonsynonymous SNV 50.6 0.00 -0.44 1186 RELYSE_GHE0352


chr12:g.49416098AT>- KMT2D frameshift deletion 38.7 NA NA 1393 RELYSE_GHE0358_PHR01B039

NM_003482:exon52:c.16376_16377del p.5459_5459del


chr12:g.49440101T>C KMT2D nonsynonymous SNV 63.7 0.00 1.73 2542 RELYSE_GHE0368

_PHR02B054.2 NM_003482:exon16:c.A4525G p.I1509V





chr12:g.49437673->CCTC KMT2D frameshift insertion 32.0 NA NA 54 RELYSE_GHE0440

_PHR06B97NM_003482:exon22:c.5296_5297insGAGG p.D1766fs




chr12:g.49432767A>- KMT2D frameshift deletion 18.6 NA NA 148 RELYSE_GHE0463_PHR06B070 NM_003482:exon34:c.8372delT p.L2791fs

chr12:g.49433849G>- KMT2D frameshift deletion 15.2 NA NA 71 RELYSE_GHE0470_PHR06B005 NM_003482:exon31:c.7704delC p.P2568fs



chr12:g.49428260C>T KMT2D splicing 33.0 NA 3.49 508 RELYSE_GHE0519_PHRC03B020 NA NA

chr12:g.49446735G>A KMT2D nonsynonymous SNV 54.4 0.00 -0.76 561 RELYSE_GHE0519

_PHRC03B020 NM_003482:exon8:c.C1075T p.R359C






chr12:g.49444960G>T KMT2D nonsynonymous SNV 41.9 0.00 0.90 965 RELYSE_GHE0602

_PHRC01B017 NM_003482:exon10:c.C2506A p.Q836K





_PHRC06B021 NM_003482:exon39:c.A12178G p.T4060A

chr12:g.49421811C>A KMT2D nonsynonymous SNV 47.5 0.00 1.51 1575 RELYSE_GHE0689

_PHR06B056 NM_003482:exon46:c.G14496T p.K4832N


chr12:g.49437493T>G KMT2D nonsynonymous SNV 43.5 0.00 1.16 1643 RELYSE_GHE0693

_PHR01B028 NM_003482:exon23:c.A5392C p.S1798R

chr12:g.49437527ACGG>- KMT2D frameshift deletion 42.2 NA NA 1162 RELYSE_GHE0693


chr12:g.49437532T>A KMT2D nonsynonymous SNV 42.2 0.00 1.42 1162 RELYSE_GHE0693


chr12:g.49416461A>G KMT2D nonsynonymous SNV 36.7 0.00 2.12 665 RELYSE_GHE0714


chr12:g.49444501A>C KMT2D stopgain SNV 60.3 0.00 7.05 4571 RELYSE_GHE0714_PHR39B014 NM_003482:exon11:c.T2870G p.L957X

chr12:g.49438728CGAAG>- KMT2D frameshift deletion 41.1 NA NA 1118 RELYSE_GHE0717



chr12:g.49427936->T KMT2D frameshift insertion 46.8 NA NA 984 RELYSE_GHE0777

_PHR02B036NM_003482:exon38:c.10653dupA p.A3552fs





_PHR02B005 NM_003482:exon31:c.G7478A p.G2493E

chr12:g.49427022GCCCTGGGGGC>- KMT2D frameshift deletion 19.8 NA NA 50 RELYSE_GHE0842




chr12:g.49420214G>- KMT2D frameshift deletion 43.5 NA NA 562 RELYSE_GHE0857_PHR06B038

NM_003482:exon48:c.15535delC p.R5179fs

chr12:g.49431003TGTGATAGCACTGGCTG>- KMT2D frameshift deletion 24.6 NA NA 50 RELYSE_GHE0857



_PHR06B038 NM_003482:exon31:c.G7478A p.G2493E

chr12:g.49445320->GAGC KMT2D frameshift

insertion 24.6 NA NA 99 RELYSE_GHE0860_PHR06B050

NM_003482:exon10:c.2145_2146insGCTC p.M716fs



chr12:g.49420203->C KMT2D frameshift insertion 29.7 NA NA 414 RELYSE_GHE0923

_PHR06B064NM_003482:exon48:c.15545dupG p.G5182fs



chr12:g.49432297G>A KMT2D nonsynonymous SNV 73.3 0.00 -0.71 660 RELYSE_GHE0925


chr12:g.49438738G>C KMT2D stopgain SNV 9.6 0.00 10.70 36 RELYSE_GHE0955_PHR06B036 NM_003482:exon19:c.C4752G p.Y1584X


_PHR01B038.2 NM_003482:exon11:c.G3664A p.G1222S





_PHR06B086.2 NM_003482:exon10:c.C2456T p.P819L

chr12:g.49444933G>- KMT2D frameshift deletion 19.4 NA NA 91 RELYSE_GHE0993_PHR06B085 NM_003482:exon10:c.2533delC p.R845fs

chr12:g.49428392CTGCAGATCAC>- KMT2D frameshift deletion 10.2 NA NA 73 RELYSE_GHE0997


chr12:g.49435467C>- KMT2D frameshift deletion 66.0 NA NA 1085 RELYSE_GHE1028_PHR06B017 NM_003482:exon30:c.6205delG p.A2069fs


_PHR06B059 NM_003482:exon53:c.A16483G p.I5495V


NM_003482:exon39:c.13201delC p.Q4401fs









chr12:g.49440135GTGT>- KMT2D frameshift deletion 25.6 NA NA 376 RELYSE_GHE1302_PHR01B049

NM_003482:exon16:c.4488_4491del p.1496_1497del

chr12:g.49440141G>T KMT2D stopgain SNV 32.9 0.00 9.75 390 RELYSE_GHE1369_PHR07B014 NM_003482:exon16:c.C4485A p.Y1495X




_PHR03B024 NM_003482:exon34:c.9265dupG p.V3089fs

chr12:g.49447259C>T KMT2D nonsynonymous SNV 37.7 NA 2.40 970 RELYSE_GHE1392

_PHR03B024 NM_003482:exon6:c.G839A p.R280K



_PHR06B081NM_003482:exon10:c.2409_2410insG p.L804fs

chr12:g.49443774GA>- KMT2D frameshift deletion 31.8 NA NA 115 RELYSE_GHE1437_PHR06B018

NM_003482:exon11:c.3596_3597del p.1199_1199del





_PHR06B103 NM_003482:exon5:c.G641A p.C214Y


_PHR07B003.2 NM_003482:exon39:c.A11473G p.R3825G

chr12:g.49426654T>- KMT2D frameshift deletion 20.1 NA NA 184 RELYSE_GHE1450_PHR02B044

NM_003482:exon39:c.11834delA p.Q3945fs



chr12:g.49420121A>C KMT2D nonsynonymous SNV 40.2 0.00 2.20 2830 RELYSE_GHE1498







_PHR01B018NM_003482:exon36:c.10394dupG p.G3465fs



chr12:g.49440501A>- KMT2D frameshift deletion 38.0 NA NA 1207 RELYSE_GHE1537_PHR01B018 NM_003482:exon15:c.4309delT p.S1437fs



_PHR05B029 NM_003482:exon48:c.T15283G p.C5095G




chr12:g.49432146T>- KMT2D frameshift deletion 24.9 NA NA 337 RELYSE_GHE2023_PHR05B032 NM_003482:exon34:c.8993delA p.D2998fs


_PHR05B032 NM_003482:exon34:c.T8991G p.F2997L



chr12:g.49422842A>C KMT2D splicing 12.8 NA 4.08 145 RELYSE_GHE2096_PHR05B016 NA NA







_PHR05B025 NM_003482:exon54:c.A16525T p.T5509S

chr12:g.49427395C>- KMT2D frameshift deletion 12.9 NA NA 37 RELYSE_GHE2109_PHR05B025

NM_003482:exon39:c.11093delG p.G3698fs

chr12:g.49416101TTCA>- KMT2D frameshift deletion 22.9 NA NA 280 RELYSE_GHE2119_PHR05B001

NM_003482:exon52:c.16371_16374del p.5457_5458del


NM_003482:exon48:c.14935delC p.L4979fs

chr19:g.19261490C>G MEF2B splicing 30.9 NA 3.01 480 RELYSE_GHE2012_PHR05B008 NA NA

chr19:g.19261497A>C MEF2B,MEF2BNB-MEF2B

nonsynonymous SNV 14.6 0.00 2.50 169 RELYSE_GHE0024

_PHR02B062 NM_005919:exon4:c.T48G p.N16K

chr19:g.19260223G>A MEF2B,MEF2BNB-MEF2B



chr19:g.19256727C>- MEF2B,MEF2BNB-MEF2B frameshift deletion 58.8 NA NA 61 RELYSE_GHE0150

_PHR06B082 NM_005919:exon10:c.874delG p.A292fs

chr19:g.19260202T>C MEF2B,MEF2BNB-MEF2B


_PHR02B85 NM_005919:exon5:c.A91G p.K31E


_PHRC06B015 NM_005919:exon10:c.874delG p.A292fs

chr19:g.19260064C>G MEF2B,MEF2BNB-MEF2B



chr19:g.19261505G>A MEF2B,MEF2BNB-MEF2B stopgain SNV 8.2 0.41 5.84 29 RELYSE_GHE0430

_PHR06B94 NM_005919:exon4:c.C40T p.Q14X

chr19:g.19257646T>A MEF2B,MEF2BNB-MEF2B



chr19:g.19260132A>C MEF2B,MEF2BNB-MEF2B



chr19:g.19260124A>T MEF2B,MEF2BNB-MEF2B



chr19:g.19260062C>G MEF2B,MEF2BNB-MEF2B


_PHRC02B016 NM_005919:exon5:c.G231C p.E77D



_PHR02B052 NM_005919:exon5:c.A67G p.K23E

chr19:g.19261513A>G MEF2B,MEF2BNB-MEF2B


_PHRC03B016 NM_005919:exon4:c.T32C p.I11T





chr19:g.19260064C>T MEF2B,MEF2BNB-MEF2B


_PHRC06B021 NM_005919:exon5:c.G229A p.E77K

chr19:g.19261541C>T MEF2B,MEF2BNB-MEF2B


_PHR02B037 NM_005919:exon4:c.G4A p.G2R

chr19:g.19260045T>G MEF2B,MEF2BNB-MEF2B


_PHR02B036 NM_005919:exon5:c.A248C p.D83A

chr19:g.19257946A>C MEF2B,MEF2BNB-MEF2B stopgain SNV 31.4 NA 2.72 246 RELYSE_GHE0811

_PHR06B003 NM_005919:exon7:c.T440G p.L147X

chr19:g.19261529T>- MEF2B,MEF2BNB-MEF2B frameshift deletion 16.5 NA NA 42 RELYSE_GHE0976

_PHR01B035 NM_005919:exon4:c.16delA p.I6fs

chr19:g.19257571G>A MEF2B,MEF2BNB-MEF2B stopgain SNV 16.2 0.47 2.55 246 RELYSE_GHE0986

_PHR02B048 NM_005919:exon8:c.C655T p.R219X




chr19:g.19261535T>A MEF2B,MEF2BNB-MEF2B stopgain SNV 37.0 0.00 6.01 787 RELYSE_GHE1009

_PHR01B044 NM_005919:exon4:c.A10T p.K4X










chr19:g.19260084G>C MEF2B,MEF2BNB-MEF2B


_PHR03B023 NM_005919:exon5:c.C209G p.T70R

chr19:g.19260170A>T MEF2B,MEF2BNB-MEF2B stopgain SNV 37.8 NA 4.90 934 RELYSE_GHE1393

_PHR03B023 NM_005919:exon5:c.T123A p.C41X

chr19:g.19260146G>C MEF2B,MEF2BNB-MEF2B


_PHR06B029 NM_005919:exon5:c.C147G p.N49K

chr19:g.19260088A>G MEF2B,MEF2BNB-MEF2B






chr19:g.19257890G>A MEF2B,MEF2BNB-MEF2B



chr19:g.19260165A>T MEF2B,MEF2BNB-MEF2B


_PHR05B030 NM_005919:exon5:c.T128A p.I43K

chr19:g.19260184C>A MEF2B,MEF2BNB-MEF2B


_PHR05B030 NM_005919:exon5:c.G109T p.V37L



_PHR05B030 NM_005919:exon5:c.A74G p.K25R




chr8:g.8750370C>T MFHAS1 nonsynonymous SNV 14.3 0.58 3.58 26 RELYSE_GHE0004


chr8:g.8748032G>C MFHAS1 nonsynonymous SNV 47.4 0.42 2.55 911 RELYSE_GHE0034


chr8:g.8749316T>A MFHAS1 nonsynonymous SNV 35.0 0.09 3.43 591 RELYSE_GHE0092

_PHR02B009 NM_004225:exon1:c.A1253T p.K418M

chr8:g.8750465G>A MFHAS1 nonsynonymous SNV 8.8 0.84 2.53 44 RELYSE_GHE0202


chr8:g.8749334AGCTT>- MFHAS1 frameshift deletion 22.1 NA NA 249 RELYSE_GHE0219_PHR03B037

NM_004225:exon1:c.1231_1235del p.411_412del



chr8:g.8749531C>G MFHAS1 nonsynonymous SNV 18.4 0.51 2.37 258 RELYSE_GHE0219



_PHR03B037 NM_004225:exon1:c.C268G p.R90G










_PHRC06B014 NM_004225:exon2:c.C3016G p.P1006A


_PHR02B025 NM_004225:exon1:c.A2847T p.L949F


_PHR02B025 NM_004225:exon1:c.A2837T p.H946L



chr8:g.8749949T>C MFHAS1 nonsynonymous SNV 17.1 0.13 2.83 106 RELYSE_GHE0609



_PHR02B014 NM_004225:exon1:c.A286T p.R96W



chr8:g.8750275GCGGTTCCTGC>- MFHAS1 frameshift deletion 52.6 NA NA 536 RELYSE_GHE0834







_PHR03B002 NM_004225:exon1:c.A835T p.N279Y

chr8:g.8749764A>G MFHAS1 nonsynonymous SNV 36.7 0.65 4.02 362 RELYSE_GHE1376


chr8:g.8747611C>G MFHAS1 nonsynonymous SNV 13.7 0.16 3.72 335 RELYSE_GHE1390

_PHR03B022 NM_004225:exon1:c.G2958C p.K986N

chr8:g.8750162T>C MFHAS1 nonsynonymous SNV 8.0 0.35 2.48 24 RELYSE_GHE1390



_PHR06B103 NM_004225:exon1:c.C918G p.N306K

chr8:g.128750677C>T MYC nonsynonymous SNV 49.1 0.02 5.02 773 RELYSE_GHE0001


chr8:g.128750625G>C MYC nonsynonymous SNV 20.9 0.18 1.90 266 RELYSE_GHE0197


chr8:g.128748829C>T MYC UTR5 26.1 NA NA 203 RELYSE_GHE0219_PHR03B037 NA NA

chr8:g.128750616G>T MYC nonsynonymous SNV 26.3 0.07 1.82 381 RELYSE_GHE0241

_PHR06B041 NM_002467:exon2:c.G153T p.Q51H


_PHR06B041 NM_002467:exon2:c.G162T p.E54D

chr8:g.128750783G>A MYC nonsynonymous SNV 40.1 0.34 2.54 804 RELYSE_GHE0241





_PHR06B100 NM_002467:exon2:c.G489C p.K163N











chr8:g.128748829C>T MYC UTR5 28.3 NA NA 728 RELYSE_GHE0491_PHR02B025 NA NA


_PHRC03B020 NM_002467:exon2:c.C232T p.P78S


_PHRC03B016 NM_002467:exon2:c.C223T p.P75S

chr8:g.128750613GCAGCAGAGCGAGCT>- MYC nonframeshift

deletion 29.6 NA NA 50 RELYSE_GHE0685_PHRC06B021 NM_002467:exon2:c.150_164del p.50_55del




_PHR07B005 NM_002467:exon2:c.G153T p.Q51H


_PHR01B042.2 NM_002467:exon2:c.G186C p.E62D

chr8:g.128750696C>G MYC nonsynonymous SNV 43.8 0.00 2.77 207 RELYSE_GHE0883

_PHR01B042.2 NM_002467:exon2:c.C233G p.P78R

chr8:g.128750728T>A MYC nonsynonymous SNV 42.6 0.20 2.65 193 RELYSE_GHE0883

_PHR01B042.2 NM_002467:exon2:c.T265A p.Y89N


_PHR01B042.2 NM_002467:exon2:c.G308A p.G103D


_PHR01B042.2 NM_002467:exon2:c.G320A p.S107N



chr8:g.128750920T>C MYC nonsynonymous SNV 10.3 0.00 5.57 58 RELYSE_GHE0883

_PHR01B042.2 NM_002467:exon2:c.T457C p.F153L



chr8:g.128751015C>A MYC nonsynonymous SNV 8.1 0.02 2.49 33 RELYSE_GHE0883

_PHR01B042.2 NM_002467:exon2:c.C552A p.S184R


_PHR01B042.2 NM_002467:exon2:c.C580G p.Q194E



chr8:g.128752968T>G MYC nonsynonymous SNV 36.8 0.03 4.16 231 RELYSE_GHE0883

_PHR01B042.2 NM_002467:exon3:c.T1129G p.L377V

chr8:g.128748828G>A MYC UTR5 5.2 NA NA 23 RELYSE_GHE2030_PHR05B005 NA NA

chr8:g.128750677C>A MYC nonsynonymous SNV 24.8 0.00 7.14 183 RELYSE_GHE2100


chr3:g.38182292G>A MYD88 nonsynonymous SNV 28.1 0.01 4.72 578 RELYSE_GHE0047


chr3:g.38182641T>C MYD88 stoploss SNV 82.1 0.00 3.71 2670 RELYSE_GHE0150_PHR06B082 NM_001172569:exon4:c.T613C p.X205R

chr3:g.38182337C>T MYD88 stopgain SNV 41.7 1.00 5.15 2082 RELYSE_GHE0169_PHR01B023 NM_001172569:exon3:c.C592T p.Q198X



chr3:g.38182638G>T MYD88 nonsynonymous SNV 12.6 0.00 4.84 136 RELYSE_GHE0415

_PHRC06B013 NM_001172569:exon4:c.G610T p.D204Y

chr3:g.38182641T>C MYD88 stoploss SNV 43.5 0.00 3.71 1044 RELYSE_GHE0415_PHRC06B013 NM_001172569:exon4:c.T613C p.X205R

chr3:g.38182032C>G MYD88 nonsynonymous SNV 32.6 0.02 5.18 841 RELYSE_GHE0423

_PHR06B045 NM_001172567:exon3:c.C656G p.S219C








chr3:g.38182042T>A MYD88 nonsynonymous SNV 14.1 0.03 4.15 131 RELYSE_GHE0469

_PHR06B006 NM_001172567:exon3:c.T666A p.S222R










_PHR07B005 NM_001172567:exon3:c.G649T p.V217F







_PHR06B086.2 NM_001172567:exon3:c.G649T p.V217F

chr3:g.38182641T>C MYD88 stoploss SNV 58.4 0.00 3.71 3255 RELYSE_GHE1036_PHR07B004.2 NM_001172569:exon4:c.T613C p.X205R


_PHR02B057 NM_001172567:exon3:c.G649T p.V217F



chr3:g.38182259T>C MYD88 nonsynonymous SNV 45.2 0.11 3.13 1827 RELYSE_GHE1352










chr3:g.38181418T>C MYD88 nonsynonymous SNV 40.2 0.12 4.65 731 RELYSE_GHE2037

_PHR05B009 NM_001172569:exon2:c.T431C p.V144A


chr9:g.139391211C>T NOTCH1 nonsynonymous SNV 86.9 0.31 2.74 5435 RELYSE_GHE0275




chr9:g.139390653G>A NOTCH1 nonsynonymous SNV 15.2 0.00 3.99 187 RELYSE_GHE0426




chr9:g.139390975G>A NOTCH1 stopgain SNV 16.0 0.94 11.04 70 RELYSE_GHE0690_PHR06B057 NM_017617:exon34:c.C7216T p.Q2406X





chr9:g.139390517C>T NOTCH1 UTR3 51.6 NA NA 1140 RELYSE_GHE0873_PHR01B027 NA NA

chr9:g.139390747G>- NOTCH1 stopgain SNV 41.5 NA NA 769 RELYSE_GHE1034_PHR07B010.2 NM_017617:exon34:c.7444delC p.L2482X

chr9:g.139390747G>- NOTCH1 stopgain SNV 30.7 NA NA 388 RELYSE_GHE1560_PHR07B002 NM_017617:exon34:c.7444delC p.L2482X

chr1:g.120458120G>A NOTCH2 stopgain SNV 13.7 0.25 14.49 572 RELYSE_GHE0006_PHR01B048 NM_024408:exon34:c.C7225T p.Q2409X



chr1:g.120458587C>T NOTCH2 stopgain SNV 26.5 1.00 12.81 1746 RELYSE_GHE0047_PHR39B020 NM_024408:exon34:c.G6758A p.W2253X

chr1:g.120458150C>A NOTCH2 stopgain SNV 91.4 0.04 14.44 7759 RELYSE_GHE0049_PHR06B089.2 NM_024408:exon34:c.G7195T p.E2399X

chr1:g.120458147G>A NOTCH2 stopgain SNV 30.9 0.67 14.01 467 RELYSE_GHE0811_PHR06B003 NM_024408:exon34:c.C7198T p.R2400X

chr1:g.120458122A>T NOTCH2 nonsynonymous SNV 49.2 0.00 2.72 2443 RELYSE_GHE0857

_PHR06B038 NM_024408:exon34:c.T7223A p.L2408H





_PHR02B038 NM_024408:exon34:c.T7223A p.L2408H




chr1:g.120458196G>C NOTCH2 stopgain SNV 42.3 1.00 13.56 3639 RELYSE_GHE2019_PHR05B030 NM_024408:exon34:c.C7149G p.Y2383X

chr1:g.120458424->A NOTCH2 frameshift insertion 43.0 NA NA 418 RELYSE_GHE2019

_PHR05B030 NM_024408:exon34:c.6920dupT p.F2307fs


_PHR05B015 NM_024408:exon34:c.T6514A p.S2172T


chr6:g.37139247C>T PIM1 nonsynonymous SNV 40.6 0.02 4.22 459 RELYSE_GHE0150


chr6:g.37138642C>G PIM1 nonsynonymous SNV 13.3 0.19 2.42 10 RELYSE_GHE0197


chr6:g.37138950G>A PIM1 nonsynonymous SNV 8.8 0.36 3.20 28 RELYSE_GHE0258




chr6:g.37141856C>A PIM1 nonsynonymous SNV 50.2 0.01 0.55 1005 RELYSE_GHE0262

_PHR06B040.2NM_001243186:exon6:c.C1204A p.P402T



chr6:g.37139131CTGCCACAACTG>- PIM1 nonframeshift

deletion 47.6 NA NA 1256 RELYSE_GHE0300_PHR07B007

NM_001243186:exon4:c.744_755del p.248_252del




_PHR02B84 NM_001243186:exon4:c.C672G p.I224M


_PHRC39B003 NM_001243186:exon4:c.C823G p.L275V

chr6:g.37138804G>- PIM1 frameshift deletion 32.3 NA NA 450 RELYSE_GHE0397_PHRC06B014

NM_001243186:exon3:c.510delG p.E170fs


_PHRC06B014 NM_001243186:exon4:c.C823T p.L275F



chr6:g.37138615G>C PIM1 nonsynonymous SNV 69.2 0.01 4.53 74 RELYSE_GHE0459


chr6:g.37138656G>C PIM1 splicing 49.3 NA 3.97 320 RELYSE_GHE0459_PHR02B080 NA NA






_PHRC01B020 NM_001243186:exon4:c.G643C p.E215Q




















chr6:g.37139237CTCAAGGACACCGT>- PIM1 frameshift deletion 14.6 NA NA 61 RELYSE_GHE0659



_PHRC06B021 NM_001243186:exon2:c.G437A p.G146D


_PHRC06B021 NM_001243186:exon4:c.C686G p.A229G


_PHRC06B021 NM_001243186:exon4:c.C793G p.L265V


_PHRC06B021 NM_001243186:exon4:c.C823T p.L275F










chr6:g.37140918CAGGTTTTCTT>- PIM1 frameshift deletion 37.1 NA NA 482 RELYSE_GHE0846




chr6:g.37138930G>- PIM1 frameshift deletion 18.6 NA NA 31 RELYSE_GHE0955_PHR06B036

NM_001243186:exon4:c.543delG p.V181fs










_PHR07B009.2 NM_001243186:exon4:c.G521A p.G174D


_PHR07B009.2 NM_001243186:exon4:c.G710A p.S237N


_PHR01B049 NM_001243186:exon2:c.C460G p.P154A

chr6:g.37138656G>A PIM1 splicing 14.0 NA 4.09 109 RELYSE_GHE1302_PHR01B049 NA NA


_PHR01B049 NM_001243186:exon3:c.C475G p.H159D

chr6:g.37138797G>A PIM1 stopgain SNV 11.1 1.00 8.02 65 RELYSE_GHE1302_PHR01B049 NM_001243186:exon3:c.G503A p.W168X

chr6:g.37138901C>G PIM1 nonsynonymous SNV 21.4 NA 1.87 56 RELYSE_GHE1302

_PHR01B049 NM_001243186:exon4:c.C514G p.P172A



chr6:g.37139078C>T PIM1 stopgain SNV 29.0 0.16 6.04 354 RELYSE_GHE1302_PHR01B049 NM_001243186:exon4:c.C691T p.Q231X

chr6:g.37139110GGTGCTGGAGG>- PIM1 frameshift deletion 28.7 NA NA 212 RELYSE_GHE1302



_PHR01B049 NM_001243186:exon4:c.C834A p.F278L













chr6:g.37139082AGGAGCTGGCCCGCAGCT>AGGAATTGGCCCGCAGTT

PIM1 nonframeshift substitution 32.5 NA NA 1122 RELYSE_GHE1438

_PHR06B103NM_001243186:exon4:c.695_712AGGAATTGGCCCGCAGTT

chr6:g.37139083GGAGCTGGCCCGCAGCT>- PIM1 frameshift deletion 43.9 NA NA 1122 RELYSE_GHE1438



_PHR02B030NM_001243186:exon1:c.C346G p.L116V




_PHR05B030NM_001243186:exon4:c.C589T p.L197F


_PHR05B022.2NM_001243186:exon4:c.G600C p.W200C


_PHR05B022.2NM_001243186:exon4:c.G676A p.E226K


_PHR05B022.2NM_001243186:exon4:c.C823G p.L275V

chr6:g.37139268G>A PIM1 splicing 21.7 NA 3.78 28 RELYSE_GHE2026_PHR05B022.2 NA NA


_PHR05B005NM_001243186:exon4:c.C564G p.S188R


_PHR05B003NM_001243186:exon3:c.C475T p.H159Y



chr6:g.37138949A>T PIM1 nonsynonymous SNV 49.1 0.09 2.25 240 RELYSE_GHE2127

_PHR05B010NM_001243186:exon4:c.A562T p.S188C


_PHR05B010NM_001243186:exon4:c.C566T p.S189L

chr6:g.37138973A>G PIM1 nonsynonymous SNV 45.5 0.01 2.81 220 RELYSE_GHE2127

_PHR05B010NM_001243186:exon4:c.A586G p.R196G


_PHR05B010NM_001243186:exon4:c.C646G p.P216A



chr6:g.37140854C>- PIM1 frameshift deletion 27.8 NA NA 111 RELYSE_GHE2127_PHR05B010

NM_001243186:exon5:c.963delC p.I321fs

chr6:g.106553231C>A PRDM1 nonsynonymous SNV 21.3 0.04 0.98 140 RELYSE_GHE0057

_PHR06B077NM_001198:exon5:c.C1196A p.P399Q

chr6:g.106547325A>G PRDM1 nonsynonymous SNV 47.0 0.00 4.28 671 RELYSE_GHE0061

_PHR06B078NM_001198:exon4:c.A562G p.K188E

chr6:g.106554816A>G PRDM1 nonsynonymous SNV 58.9 0.02 4.08 6427 RELYSE_GHE0169

_PHR01B023NM_001198:exon7:c.A1933G p.N645D

chr6:g.106553096G>A PRDM1 nonsynonymous SNV 27.6 0.09 3.66 331 RELYSE_GHE0262

_PHR06B040.2NM_001198:exon5:c.G1061A p.S354N


_PHR01B041NM_001198:exon7:c.G2312A p.G771D


_PHRC39B003NM_001198:exon5:c.G1061A p.S354N

chr6:g.106536325G>A PRDM1 splicing 83.3 NA 2.24 1160 RELYSE_GHE0454_PHR07B15 NA NA

chr6:g.106554967A>T PRDM1 nonsynonymous SNV 30.1 0.02 1.88 301 RELYSE_GHE0470

_PHR06B005NM_001198:exon7:c.A2084T p.N695I


_PHR06B057NM_001198:exon5:c.G1061A p.S354N





chr6:g.106543488A>C PRDM1 splicing 38.5 NA 4.01 398 RELYSE_GHE0808_PHR06B053 NA NA

chr6:g.106536281T>G PRDM1 stopgain SNV 38.8 1.00 8.24 431 RELYSE_GHE0809_PHR06B004

NM_001198:exon2:c.T248G p.L83X









chr6:g.106554273C>G PRDM1 nonsynonymous SNV 48.6 0.00 4.08 1223 RELYSE_GHE1369

_PHR07B014NM_001198:exon6:c.C1801G p.R601G

chr6:g.106536324G>C PRDM1 nonsynonymous SNV 61.5 0.14 2.80 824 RELYSE_GHE1413

_PHR06B081NM_001198:exon2:c.G291C p.E97D


_PHR05B022.2NM_001198:exon2:c.G88A p.A30T


_PHR05B022.2NM_001198:exon2:c.C251G p.P84R


_PHR05B022.2NM_001198:exon2:c.C267G p.F89L

chr6:g.106553202C>A PRDM1 stopgain SNV 53.2 1.00 5.28 1414 RELYSE_GHE2026_PHR05B022.2

NM_001198:exon5:c.C1167A p.Y389X

chr6:g.106552770->A PRDM1 frameshift insertion 31.2 NA NA 341 RELYSE_GHE2121

_PHR05B003NM_001198:exon5:c.736dupA p.K245fs

chr16:g.11348946AAAGTGCACGCGGAT>- SOCS1 nonframeshift

deletion 36.6 NA NA 511 RELYSE_GHE0002_PHR03B014

NM_003745:exon2:c.376_390del p.126_130del

chr16:g.11348989C>T SOCS1 nonsynonymous SNV 13.1 0.00 3.99 241 RELYSE_GHE0024


chr16:g.11349146A>G SOCS1 nonsynonymous SNV 24.2 0.34 3.72 52 RELYSE_GHE0047

_PHR39B020NM_003745:exon2:c.T190C p.Y64H

chr16:g.11348888G>C SOCS1 nonsynonymous SNV 20.1 0.00 3.28 253 RELYSE_GHE0197


chr16:g.11348960T>A SOCS1 nonsynonymous SNV 23.5 0.01 2.76 332 RELYSE_GHE0197

_PHR02B075NM_003745:exon2:c.A376T p.I126F

chr16:g.11349286G>A SOCS1 nonsynonymous SNV 33.3 0.23 2.41 16 RELYSE_GHE0197





_PHR02B075NM_003745:exon2:c.C26G p.A9G

chr16:g.11349314C>G SOCS1 nonsynonymous SNV 33.3 0.27 2.63 16 RELYSE_GHE0197

_PHR02B075NM_003745:exon2:c.G22C p.A8P


_PHR02B85NM_003745:exon2:c.G197A p.R66H


_PHR03B037NM_003745:exon2:c.C371T p.T124M




_PHR39B022NM_003745:exon2:c.G364A p.G122R


_PHR39B022NM_003745:exon2:c.C299T p.T100I

chr16:g.11349147A>T SOCS1 nonsynonymous SNV 31.0 0.27 2.76 63 RELYSE_GHE0228

_PHR39B022NM_003745:exon2:c.T189A p.D63E



chr16:g.11348875T>G SOCS1 nonsynonymous SNV 44.0 0.18 4.69 88 RELYSE_GHE0293


chr16:g.11349144G>T SOCS1 stopgain SNV 21.7 1.00 5.98 28 RELYSE_GHE0293_PHR02B042

NM_003745:exon2:c.C192A p.Y64X

chr16:g.11348915GGCTGCCATCCA>- SOCS1 nonframeshift

deletion 40.8 NA NA 686 RELYSE_GHE0368_PHR02B054.2

NM_003745:exon2:c.410_421del p.137_141del


_PHR02B054.2NM_003745:exon2:c.C408G p.H136Q

chr16:g.11349029C>A SOCS1 nonsynonymous SNV 17.2 0.46 2.82 90 RELYSE_GHE0371

_PHR02B84NM_003745:exon2:c.G307T p.V103L


_PHR02B84NM_003745:exon2:c.C299G p.T100S


_PHR02B84NM_003745:exon2:c.G233A p.G78E




_PHR02B84NM_003745:exon2:c.C174G p.F58L



chr16:g.11349059G>T SOCS1 nonsynonymous SNV 37.7 0.00 4.17 212 RELYSE_GHE0491

_PHR02B025NM_003745:exon2:c.C277A p.L93M

chr16:g.11349260A>G SOCS1 nonsynonymous SNV 38.2 0.32 2.29 107 RELYSE_GHE0491

_PHR02B025NM_003745:exon2:c.T76C p.S26P


_PHRC01B020NM_003745:exon2:c.C55T p.P19S



chr16:g.11349277CGGGGCTCTGCTGC>- SOCS1 frameshift deletion 70.3 NA NA 305 RELYSE_GHE0635



_PHR02B008NM_003745:exon2:c.C325G p.R109G

chr16:g.11349035A>C SOCS1 nonsynonymous SNV 15.9 0.00 4.85 41 RELYSE_GHE0645

_PHR02B008NM_003745:exon2:c.T301G p.F101V




_PHR02B008NM_003745:exon2:c.G46A p.A16T


_PHR02B008NM_003745:exon2:c.C26G p.A9G

chr16:g.11348951GCACGCGGATGCTCGTG>- SOCS1 frameshift deletion 32.2 NA NA 502 RELYSE_GHE0705


chr16:g.11349085AGGGGCCCCCAGT>- SOCS1 frameshift deletion 47.8 NA NA 152 RELYSE_GHE0705


chr16:g.11349104C>A SOCS1 stopgain SNV 45.8 0.00 6.05 89 RELYSE_GHE0705_PHR02B034

NM_003745:exon2:c.G232T p.G78X




_PHR06B054NM_003745:exon2:c.G242C p.W81S

chr16:g.11349148T>G SOCS1 nonsynonymous SNV 62.3 0.01 3.34 460 RELYSE_GHE0733

_PHR06B054NM_003745:exon2:c.A188C p.D63A


_PHR06B054NM_003745:exon2:c.A169T p.T57S


_PHR06B001NM_003745:exon2:c.C174G p.F58L



chr16:g.11348813G>A SOCS1 stopgain SNV 27.4 0.02 6.40 117 RELYSE_GHE0976_PHR01B035

NM_003745:exon2:c.C523T p.Q175X


_PHR02B043NM_003745:exon2:c.C429G p.S143R


_PHR02B043NM_003745:exon2:c.C330G p.N110K

chr16:g.11349141C>- SOCS1 frameshift deletion 48.4 NA NA 104 RELYSE_GHE1018_PHR02B072

NM_003745:exon2:c.195delG p.R65fs


_PHR06B017NM_003745:exon2:c.G49A p.A17T




_PHR02B057NM_003745:exon2:c.C333G p.C111W


_PHR03B036NM_003745:exon2:c.G197C p.R66P




_PHR03B027NM_003745:exon2:c.C348A p.S116R


NM_003745:exon2:c.C192A p.Y64X

chr16:g.11349158A>C SOCS1 nonsynonymous SNV 52.2 0.53 3.01 103 RELYSE_GHE1287

_PHR03B027NM_003745:exon2:c.T178G p.S60A


_PHR03B002NM_003745:exon2:c.A524T p.Q175L

chr16:g.11349076T>C SOCS1 nonsynonymous SNV 46.4 0.36 2.65 291 RELYSE_GHE1376

_PHR03B002NM_003745:exon2:c.A260G p.H87R


_PHR03B002NM_003745:exon2:c.C160A p.H54N


NM_003745:exon2:c.C95A p.S32X


_PHR05B029NM_003745:exon2:c.G483A p.M161I

chr16:g.11349289GCTG>- SOCS1 frameshift deletion 29.7 NA NA 79 RELYSE_GHE2026

_PHR05B022.2NM_003745:exon2:c.44_47del p.15_16del


_PHR05B005NM_003745:exon2:c.G380C p.R127P

chr12:g.57496654A>T STAT6 nonsynonymous SNV 28.2 0.00 4.18 487 RELYSE_GHE0002

_PHR03B014NM_001178078:exon12:c.T1263A p.N421K

chr12:g.57496668T>A STAT6 nonsynonymous SNV 27.8 0.00 4.69 469 RELYSE_GHE0002

_PHR03B014NM_001178078:exon12:c.A1249T p.N417Y

chr12:g.57496661T>C STAT6 nonsynonymous SNV 15.8 0.00 4.84 177 RELYSE_GHE0052

_PHR06B074NM_001178078:exon12:c.A1256G p.D419G

chr12:g.57498344T>G STAT6 nonsynonymous SNV 42.6 0.00 4.97 984 RELYSE_GHE0092

_PHR02B009NM_001178078:exon11:c.A1115C p.E372A


_PHR39B001NM_001178078:exon12:c.A1250G p.N417S



chr12:g.57498330C>T STAT6 nonsynonymous SNV 17.6 0.01 5.49 391 RELYSE_GHE0202

_PHR02B85NM_001178078:exon11:c.G1129A p.E377K





chr12:g.57496662C>G STAT6 nonsynonymous SNV 28.4 0.00 4.90 480 RELYSE_GHE0228

_PHR39B022NM_001178078:exon12:c.G1255C p.D419H






_PHR02B054.2NM_001178078:exon13:c.G1330A p.E444K


_PHR02B054.2NM_001178078:exon12:c.A1249T p.N417Y


_PHR06B045NM_001178078:exon12:c.G1246C p.G416R


_PHR02B069NM_001178078:exon12:c.A1262G p.N421S

chr12:g.57496657G>T STAT6 nonsynonymous SNV 17.2 0.08 3.91 187 RELYSE_GHE0536

_PHR02B069NM_001178078:exon12:c.C1260A p.N420K






_PHR02B014NM_001178078:exon10:c.A1009C p.T337P


_PHR39B005NM_001178078:exon14:c.A1547G p.Q516R


_PHR01B032NM_001178078:exon14:c.G1555A p.D519N






_PHR01B035NM_001178078:exon11:c.G1129C p.E377Q

chr12:g.57496662C>A STAT6 nonsynonymous SNV 67.5 0.00 4.84 2313 RELYSE_GHE1104

_PHR03B036NM_001178078:exon12:c.G1255T p.D419Y




_PHR03B002NM_001178078:exon12:c.A1256T p.D419V






_PHR02B044NM_001178078:exon12:c.A1256C p.D419A





chr12:g.57496670C>A STAT6 nonsynonymous SNV 17.4 0.00 4.91 372 RELYSE_GHE1554

_PHR02B045NM_001178078:exon12:c.G1247T p.G416V

chr12:g.57496654A>C STAT6 nonsynonymous SNV 6.5 0.00 4.08 28 RELYSE_GHE1558

_PHR02B017NM_001178078:exon12:c.T1263G p.N421K







chr19:g.1612366A>T TCF3 nonsynonymous SNV 8.2 0.00 4.18 45 RELYSE_GHE0519

_PHRC03B020NM_001136139:exon17:c.T1653A p.N551K





chr6:g.138198372CTCAT>- TNFAIP3 frameshift deletion 16.8 NA NA 195 RELYSE_GHE0016


chr6:g.138201339G>T TNFAIP3 stopgain SNV 21.0 0.53 7.74 156 RELYSE_GHE0028_PHR02B063

NM_001270507:exon8:c.G2038T p.E680X

chr6:g.138198322->TACT TNFAIP3 frameshift insertion 10.7 NA NA 63 RELYSE_GHE0052

_PHR06B074NM_001270507:exon6:c.915_916insTACT p.E305fs

chr6:g.138202199C>T TNFAIP3 stopgain SNV 22.6 0.96 7.69 215 RELYSE_GHE0114_PHR39B001

NM_001270507:exon9:c.C2116T p.R706X

chr6:g.138197226G>A TNFAIP3 nonsynonymous SNV 9.9 0.00 3.78 59 RELYSE_GHE0202

_PHR02B85NM_001270507:exon5:c.G728A p.C243Y

chr6:g.138199586->A TNFAIP3 frameshift insertion 37.0 NA NA 255 RELYSE_GHE0228

_PHR39B022NM_001270507:exon7:c.1005dupA p.L335fs

chr6:g.138199825CAAAA>- TNFAIP3 frameshift deletion 78.1 NA NA 707 RELYSE_GHE0236


chr6:g.138199720C>T TNFAIP3 nonsynonymous SNV 13.3 0.07 3.29 357 RELYSE_GHE0293



NM_001270507:exon6:c.G850T p.E284X

chr6:g.138192601C>- TNFAIP3 frameshift deletion 47.0 NA NA 515 RELYSE_GHE0368_PHR02B054.2

NM_001270507:exon2:c.237delC p.S79fs

chr6:g.138201240A>C TNFAIP3 nonsynonymous SNV 48.1 0.20 2.21 2354 RELYSE_GHE0414

_PHRC06B012NM_001270507:exon8:c.A1939C p.T647P

chr6:g.138202418T>C TNFAIP3 nonsynonymous SNV 44.1 0.00 4.55 225 RELYSE_GHE0427

_PHR06B96NM_001270507:exon9:c.T2335C p.C779R


NM_001270507:exon6:c.C811T p.R271X

chr6:g.138198316AA>- TNFAIP3 frameshift deletion 41.2 NA NA 537 RELYSE_GHE0491_PHR02B025

NM_001270507:exon6:c.909_910del p.303_304del


NM_001270507:exon3:c.C448T p.Q150X

chr6:g.138199805->A TNFAIP3 frameshift insertion 75.6 NA NA 2721 RELYSE_GHE0547

_PHR02B066NM_001270507:exon7:c.1224dupA p.S408fs

chr6:g.138195981G>A TNFAIP3 splicing 20.1 NA 4.52 260 RELYSE_GHE0609_PHR02B014 NA NA

chr6:g.138200459TG>- TNFAIP3 frameshift deletion 19.2 NA NA 225 RELYSE_GHE0609_PHR02B014

NM_001270507:exon7:c.1877_1878del p.626_626del


_PHR02B008NM_001270507:exon3:c.G315A p.M105I



chr6:g.138198323T>G TNFAIP3 nonsynonymous SNV 46.2 0.00 3.97 736 RELYSE_GHE0705

_PHR02B034NM_001270507:exon6:c.T916G p.Y306D


NM_001270507:exon7:c.C1108T p.Q370X

chr6:g.138198231T>C TNFAIP3 nonsynonymous SNV 18.0 0.00 4.41 180 RELYSE_GHE0721

_PHR39B015NM_001270507:exon6:c.T824C p.L275P

chr6:g.138201240A>C TNFAIP3 nonsynonymous SNV 49.1 0.20 2.21 1566 RELYSE_GHE0743

_PHR06B092NM_001270507:exon8:c.A1939C p.T647P

chr6:g.138196002C>T TNFAIP3 nonsynonymous SNV 35.0 0.00 5.01 1330 RELYSE_GHE0908


chr6:g.138197195T>A TNFAIP3 nonsynonymous SNV 37.8 0.00 4.91 978 RELYSE_GHE0908


chr6:g.138198327T>G TNFAIP3 stopgain SNV 15.6 1.00 6.75 150 RELYSE_GHE0986_PHR02B048

NM_001270507:exon6:c.T920G p.L307X


NM_001270507:exon2:c.G262T p.E88X

chr6:g.138199944->G TNFAIP3 frameshift insertion 29.8 NA NA 262 RELYSE_GHE1209

_PHR06B072NM_001270507:exon7:c.1363dupG p.T454fs


chr6:g.138196160C>A TNFAIP3 stopgain SNV 43.9 0.03 4.78 701 RELYSE_GHE1287_PHR03B027

NM_001270507:exon3:c.C474A p.C158X

chr6:g.138198345C>G TNFAIP3 nonsynonymous SNV 22.6 0.00 4.61 613 RELYSE_GHE1302

_PHR01B049NM_001270507:exon6:c.C938G p.P313R


_PHR02B086NM_001270507:exon7:c.1363dupG p.T454fs

chr6:g.138196174T>A TNFAIP3 splicing 40.2 NA 4.42 425 RELYSE_GHE1376_PHR03B002 NA NA

chr6:g.138197199T>G TNFAIP3 nonsynonymous SNV 35.8 0.00 4.84 690 RELYSE_GHE1376

_PHR03B002NM_001270507:exon5:c.T701G p.L234W


chr6:g.138195986C>- TNFAIP3 frameshift deletion 13.3 NA NA 149 RELYSE_GHE1390_PHR03B022

NM_001270507:exon3:c.300delC p.D100fs

chr6:g.138200340CCCT>- TNFAIP3 frameshift deletion 68.8 NA NA 1256 RELYSE_GHE1521_PHR03B034

NM_001270507:exon7:c.1758_1761del p.586_587del


_PHR02B045NM_001270507:exon5:c.799dupG p.S266fs

chr6:g.138196835ATGA>- TNFAIP3 frameshift deletion 54.2 NA NA 1014 RELYSE_GHE1560


chr6:g.138192455A>T TNFAIP3 stopgain SNV 44.3 1.00 4.67 1017 RELYSE_GHE2037_PHR05B009

NM_001270507:exon2:c.A91T p.K31X

chr6:g.138196122TC>- TNFAIP3 frameshift deletion 15.7 NA NA 158 RELYSE_GHE2109_PHR05B025

NM_001270507:exon3:c.436_437del p.146_146del

chr1:g.2489827G>A TNFRSF14 nonsynonymous SNV 29.3 0.00 2.68 373 RELYSE_GHE0004


chr1:g.2492097C>A TNFRSF14 stopgain SNV 48.8 1.00 4.88 1449 RELYSE_GHE0015_PHR01B045

NM_003820:exon5:c.C495A p.C165X

chr1:g.2492074C>T TNFRSF14 stopgain SNV 31.5 0.89 3.13 173 RELYSE_GHE0047_PHR39B020

NM_003820:exon5:c.C472T p.Q158X



chr1:g.2489273G>C TNFRSF14 nonsynonymous SNV 12.3 0.00 -0.55 83 RELYSE_GHE0202

_PHR02B85NM_003820:exon2:c.G178C p.G60R

chr1:g.2493158C>T TNFRSF14 nonsynonymous SNV 46.4 0.03 0.55 111 RELYSE_GHE0219


chr1:g.2489846C>- TNFRSF14 frameshift deletion 26.2 NA NA 547 RELYSE_GHE0229_PHR39B007

NM_003820:exon3:c.243delC p.G81fs

chr1:g.2491312T>G TNFRSF14 nonsynonymous SNV 30.1 0.00 1.53 301 RELYSE_GHE0292

_PHR01B041NM_003820:exon4:c.T355G p.C119G

chr1:g.2488174T>A TNFRSF14 splicing 27.9 NA 1.54 324 RELYSE_GHE0426_PHR06B98 NA NA

chr1:g.2493180C>A TNFRSF14 stopgain SNV 72.7 1.00 3.47 556 RELYSE_GHE0440_PHR06B97

NM_003820:exon6:c.C620A p.S207X

chr1:g.2488139G>A TNFRSF14 stopgain SNV 26.4 1.00 4.77 102 RELYSE_GHE0469_PHR06B006

NM_003820:exon1:c.G36A p.W12X

chr1:g.2489782G>A TNFRSF14 nonsynonymous SNV 26.1 NA 3.71 421 RELYSE_GHE0469



_PHRC03B016NM_003820:exon4:c.G362A p.C121Y



chr1:g.2488105T>G TNFRSF14 nonsynonymous SNV 86.2 0.00 2.27 631 RELYSE_GHE0777

_PHR02B036NM_003820:exon1:c.T2G p.M1R

chr1:g.2493194A>T TNFRSF14 nonsynonymous SNV 56.2 0.03 0.51 897 RELYSE_GHE0908

_PHR03B035NM_003820:exon6:c.A634T p.I212F

chr1:g.2492096->C TNFRSF14 frameshift insertion 56.3 NA NA 259 RELYSE_GHE0909

_PHR03B007NM_003820:exon5:c.495dupC p.C165fs

chr1:g.2488152AA>AG TNFRSF14 nonframeshift substitution 12.5 NA NA 4624 RELYSE_GHE0997

_PHR07B012NM_003820:exon1:c.49_50AG

chr1:g.2488152AA>CG TNFRSF14 nonframeshift substitution 12.5 NA NA 4624 RELYSE_GHE0997

_PHR07B012NM_003820:exon1:c.49_50CG

chr1:g.2488173G>C TNFRSF14 splicing 12.3 NA 1.67 152 RELYSE_GHE0997_PHR07B012 NA NA




_PHR02B030NM_003820:exon8:c.C785T p.P262L

chr1:g.2489232A>T TNFRSF14 nonsynonymous SNV 60.7 0.00 1.94 1711 RELYSE_GHE1553

_PHR02B046NM_003820:exon2:c.A137T p.E46V

chr1:g.2489907G>- TNFRSF14 frameshift deletion 10.2 NA NA 23 RELYSE_GHE1554_PHR02B045

NM_003820:exon3:c.304delG p.A102fs



chr1:g.2488104A>G TNFRSF14 nonsynonymous SNV 20.2 0.00 2.73 103 RELYSE_GHE2096

_PHR05B016NM_003820:exon1:c.A1G p.M1V

chr1:g.2488105T>A TNFRSF14 nonsynonymous SNV 9.5 0.00 2.57 32 RELYSE_GHE2096

_PHR05B016NM_003820:exon1:c.T2A p.M1K



chr17:g.7577094G>A TP53 nonsynonymous SNV 51.7 0.00 4.06 292 RELYSE_GHE0050

_PHR06B073NM_000546:exon8:c.C844T p.R282W

chr17:g.7578217GT>- TP53 frameshift deletion 37.3 NA NA 177 RELYSE_GHE0134_PHR06B019

NM_000546:exon6:c.631_632del p.211_211del

chr17:g.7578503C>A TP53 nonsynonymous SNV 24.6 0.07 2.39 221 RELYSE_GHE0197

_PHR02B075NM_000546:exon5:c.G427T p.V143L

chr17:g.7577538C>T TP53 nonsynonymous SNV 53.7 0.01 4.82 1691 RELYSE_GHE0242

_PHR06B042.2NM_000546:exon7:c.G743A p.R248Q


_PHR06B040.2NM_000546:exon8:c.C844T p.R282W


_PHRC39B003NM_000546:exon8:c.G784A p.G262S

chr17:g.7577117A>G TP53 nonsynonymous SNV 14.0 0.00 4.42 65 RELYSE_GHE0470

_PHR06B005NM_000546:exon8:c.T821C p.V274A


_PHR06B005NM_000546:exon7:c.G743A p.R248Q

chr17:g.7577117A>C TP53 nonsynonymous SNV 28.0 0.00 4.26 214 RELYSE_GHE0507

_PHRC01B020NM_000546:exon8:c.T821G p.V274G


_PHR02B069NM_000546:exon5:c.T400G p.F134V


_PHR02B066NM_000546:exon7:c.G733A p.G245S

chr17:g.7578222TC>- TP53 frameshift deletion 44.1 NA NA 395 RELYSE_GHE0563_PHR06B031

NM_000546:exon6:c.626_627del p.209_209del





chr17:g.7574003G>A TP53 stopgain SNV 69.1 0.73 6.06 1609 RELYSE_GHE0717_PHR39B016

NM_000546:exon10:c.C1024T p.R342X


_PHR06B001NM_000546:exon7:c.C742T p.R248W




_PHR03B033NM_000546:exon7:c.T706G p.Y236D

chr17:g.7578535T>C TP53 nonsynonymous SNV 66.2 0.00 4.07 1119 RELYSE_GHE0849

_PHR06B039NM_000546:exon5:c.A395G p.K132R




_PHR02B048NM_000546:exon6:c.C569T p.P190L



chr17:g.7578532A>T TP53 nonsynonymous SNV 56.1 0.00 3.83 370 RELYSE_GHE1018

_PHR02B072NM_000546:exon5:c.T398A p.M133K




_PHR06B072NM_000546:exon5:c.T526G p.C176G



chr17:g.7577594A>T TP53 stopgain SNV 61.7 0.83 4.74 1607 RELYSE_GHE1380_PHR06B007

NM_000546:exon7:c.T687A p.C229X

chr17:g.7577520A>G TP53 nonsynonymous SNV 24.4 0.00 3.31 551 RELYSE_GHE1424

_PHR06B029NM_000546:exon7:c.T761C p.I254T

chr17:g.7577097C>A TP53 nonsynonymous SNV 72.7 0.00 4.89 556 RELYSE_GHE1498

_PHR06B087NM_000546:exon8:c.G841T p.D281Y

chr17:g.7578471G>- TP53 frameshift deletion 12.1 NA NA 27 RELYSE_GHE1554_PHR02B045

NM_000546:exon5:c.459delC p.P153fs


_PHR07B002NM_000546:exon8:c.C847T p.R283C

chr17:g.7577530T>G TP53 nonsynonymous SNV 75.7 0.00 4.00 3627 RELYSE_GHE2106

_PHR05B018NM_000546:exon7:c.A751C p.I251L

chr17:g.7577563T>C TP53 nonsynonymous SNV 75.3 0.00 3.25 3603 RELYSE_GHE2106

_PHR05B018NM_000546:exon7:c.A718G p.S240G



chr2:g.61719472C>T XPO1 nonsynonymous SNV 18.8 0.02 5.63 34 RELYSE_GHE0002












chr2:g.61719471T>C XPO1 nonsynonymous SNV 29.4 0.00 4.90 120 RELYSE_GHE0721

_PHR39B015NM_003400:exon15:c.A1712G p.E571G







Table S5: Validated variants.

Gene AID target frequency (%) Multiple mutation frequency (%)

MYC 60.7 66.7

PIM1 59 71.6

CDKN2B 50 0 (only 2 variants)

MFHAS1 44.6 63.0

IRF4 42.4 38.1

PRDM1 40 32.0

BCL2 34.1 70.3

GNA13 33.3 57.8

SOCS1 32.2 70.3

MYD88 26.1 41.3

CIITA 21.7 38.5

ITPKB 19.7 60.4

NOTCH2 19 12.5

Table S6: Lymphopanel NGS detection of genes with high AID target frequencies.Genes included in this table present AID target frequencies superior to the average for the Lymphopanel. Boldface indicates genes previously identified as SHM targets in DLBCL. The multiple mutation frequency refers to the percentage of variants present in association with at least one other variant of the same gene for a given patient.

Gene Subtype Cohort Type Mutant (n) WT (n) HR p FDR

B2M ABC R-ACVBP OS 3 19 NA 5.69E-01 7.72E-01B2M ABC R-ACVBP PFS 3 19 1.01 [0.12-8.69] 9.95E-01 9.95E-01B2M ABC R-CHOP OS 4 50 NA 5.86E-02 7.72E-01B2M ABC R-CHOP PFS 4 50 NA 6.29E-02 8.30E-01B2M all R-ACVBP OS 20 63 0.37 [0.04-3.19] 3.68E-01 9.74E-01B2M all R-ACVBP PFS 20 63 0.66 [0.18-2.40] 5.29E-01 8.66E-01B2M all R-CHOP OS 16 100 0.11 [0.01-0.82] 3.13E-02 5.43E-01B2M all R-CHOP PFS 16 100 0.12 [0.03-0.55] 6.24E-03 3.25E-01B2M GC R-ACVBP OS 8 29 NA 2.93E-01 7.72E-01B2M GC R-ACVBP PFS 8 29 NA 1.77E-01 8.30E-01B2M GC R-CHOP OS 6 34 NA 1.85E-01 7.72E-01B2M GC R-CHOP PFS 6 34 NA 1.34E-01 8.30E-01B2M Other R-ACVBP OS 4 10 NA NA NAB2M Other R-ACVBP PFS 4 10 2.16 [0.13-34.61] 5.77E-01 8.97E-01B2M Other R-CHOP OS 3 14 NA 5.50E-01 7.72E-01B2M Other R-CHOP PFS 3 14 NA 3.68E-01 8.30E-01B2M PMBL R-ACVBP OS 5 5 1.12 [0.07-17.95] 9.37E-01 9.59E-01B2M PMBL R-ACVBP PFS 5 5 1.12 [0.07-17.95] 9.37E-01 9.89E-01B2M PMBL R-CHOP OS 3 2 NA NA NAB2M PMBL R-CHOP PFS 3 2 NA NA NABCL2 ABC R-ACVBP OS 0 22 1.50 [0.16-14.45] NA NABCL2 ABC R-ACVBP PFS 0 22 0.93 [0.11-8.00] NA NABCL2 ABC R-CHOP OS 1 53 2.35 [0.67-8.22] NA NABCL2 ABC R-CHOP PFS 1 53 2.57 [0.81-8.15] NA NABCL2 all R-ACVBP OS 7 76 1.50 [0.16-14.40] 7.27E-01 9.99E-01BCL2 all R-ACVBP PFS 7 76 0.98 [0.11-8.41] 9.83E-01 9.98E-01BCL2 all R-CHOP OS 15 101 1.60 [0.54-4.78] 3.98E-01 9.85E-01BCL2 all R-CHOP PFS 15 101 2.01 [0.78-5.14] 1.46E-01 7.20E-01BCL2 GC R-ACVBP OS 7 30 1.50 [0.16-14.45] 7.25E-01 8.76E-01BCL2 GC R-ACVBP PFS 7 30 0.93 [0.11-8.00] 9.51E-01 9.89E-01BCL2 GC R-CHOP OS 13 27 2.35 [0.67-8.22] 1.68E-01 7.72E-01BCL2 GC R-CHOP PFS 13 27 2.57 [0.81-8.15] 9.64E-02 8.30E-01BCL2 Other R-ACVBP OS 0 14 1.50 [0.16-14.45] NA NABCL2 Other R-ACVBP PFS 0 14 0.93 [0.11-8.00] NA NABCL2 Other R-CHOP OS 1 16 2.35 [0.67-8.22] NA NABCL2 Other R-CHOP PFS 1 16 2.57 [0.81-8.15] NA NABCL2 PMBL R-ACVBP OS 0 10 1.50 [0.16-14.45] NA NABCL2 PMBL R-ACVBP PFS 0 10 0.93 [0.11-8.00] NA NABCL2 PMBL R-CHOP OS 0 5 2.35 [0.67-8.22] NA NABCL2 PMBL R-CHOP PFS 0 5 2.57 [0.81-8.15] NA NABRAF ABC R-ACVBP OS 0 22 NA NA NABRAF ABC R-ACVBP PFS 0 22 NA NA NABRAF ABC R-CHOP OS 0 54 NA NA NABRAF ABC R-CHOP PFS 0 54 NA NA NABRAF all R-ACVBP OS 0 83 NA NA NABRAF all R-ACVBP PFS 0 83 NA NA NABRAF all R-CHOP OS 1 115 NA NA NA

BRAF all R-CHOP PFS 1 115 NA NA NABRAF GC R-ACVBP OS 0 37 NA NA NABRAF GC R-ACVBP PFS 0 37 NA NA NABRAF GC R-CHOP OS 0 40 NA NA NABRAF GC R-CHOP PFS 0 40 NA NA NABRAF Other R-ACVBP OS 0 14 NA NA NABRAF Other R-ACVBP PFS 0 14 NA NA NABRAF Other R-CHOP OS 1 16 NA NA NABRAF Other R-CHOP PFS 1 16 NA NA NABRAF PMBL R-ACVBP OS 0 10 NA NA NABRAF PMBL R-ACVBP PFS 0 10 NA NA NABRAF PMBL R-CHOP OS 0 5 NA NA NABRAF PMBL R-CHOP PFS 0 5 NA NA NACARD11 ABC R-ACVBP OS 5 17 NA 4.36E-01 7.72E-01CARD11 ABC R-ACVBP PFS 5 17 0.60 [0.07-5.13] 6.35E-01 9.07E-01CARD11 ABC R-CHOP OS 6 48 0.65 [0.15-2.75] 5.54E-01 7.72E-01CARD11 ABC R-CHOP PFS 6 48 0.55 [0.13-2.32] 4.08E-01 8.30E-01CARD11 all R-ACVBP OS 7 76 0.00 [0.00-Inf] 9.99E-01 9.99E-01CARD11 all R-ACVBP PFS 7 76 0.49 [0.06-3.86] 4.94E-01 8.66E-01CARD11 all R-CHOP OS 12 104 0.66 [0.20-2.16] 4.95E-01 9.99E-01CARD11 all R-CHOP PFS 12 104 0.76 [0.27-2.12] 5.94E-01 9.35E-01CARD11 GC R-ACVBP OS 1 36 0.00 [0.00-Inf] NA NACARD11 GC R-ACVBP PFS 1 36 0.49 [0.06-3.86] NA NACARD11 GC R-CHOP OS 5 35 0.81 [0.10-6.42] 8.42E-01 9.45E-01CARD11 GC R-CHOP PFS 5 35 0.66 [0.09-5.16] 6.93E-01 9.07E-01CARD11 Other R-ACVBP OS 1 13 NA NA NACARD11 Other R-ACVBP PFS 1 13 0.60 [0.07-5.13] NA NACARD11 Other R-CHOP OS 1 16 0.65 [0.15-2.75] NA NACARD11 Other R-CHOP PFS 1 16 0.55 [0.13-2.32] NA NACARD11 PMBL R-ACVBP OS 0 10 NA NA NACARD11 PMBL R-ACVBP PFS 0 10 0.60 [0.07-5.13] NA NACARD11 PMBL R-CHOP OS 0 5 0.65 [0.15-2.75] NA NACARD11 PMBL R-CHOP PFS 0 5 0.55 [0.13-2.32] NA NACD58 ABC R-ACVBP OS 0 22 NA NA NACD58 ABC R-ACVBP PFS 0 22 NA NA NACD58 ABC R-CHOP OS 4 50 2.27 [0.68-7.61] 1.71E-01 7.72E-01CD58 ABC R-CHOP PFS 4 50 2.12 [0.63-7.09] 2.12E-01 8.30E-01CD58 all R-ACVBP OS 9 74 0.55 [0.05-5.72] 6.14E-01 9.99E-01CD58 all R-ACVBP PFS 9 74 0.49 [0.05-4.66] 5.33E-01 8.66E-01CD58 all R-CHOP OS 12 104 2.13 [0.87-5.23] 9.92E-02 9.31E-01CD58 all R-CHOP PFS 12 104 2.36 [1.07-5.20] 3.27E-02 5.67E-01CD58 GC R-ACVBP OS 4 33 NA 4.96E-01 7.72E-01CD58 GC R-ACVBP PFS 4 33 NA 3.82E-01 8.30E-01CD58 GC R-CHOP OS 4 36 3.26 [0.67-15.76] 1.19E-01 7.72E-01CD58 GC R-CHOP PFS 4 36 2.44 [0.52-11.30] 2.40E-01 8.30E-01CD58 Other R-ACVBP OS 0 14 0.89 [0.06-14.36] NA NACD58 Other R-ACVBP PFS 0 14 0.89 [0.06-14.36] NA NACD58 Other R-CHOP OS 2 15 2.27 [0.68-7.61] NA NA

CD58 Other R-CHOP PFS 2 15 2.12 [0.63-7.09] NA NACD58 PMBL R-ACVBP OS 5 5 0.89 [0.06-14.36] 9.37E-01 9.59E-01CD58 PMBL R-ACVBP PFS 5 5 0.89 [0.06-14.36] 9.37E-01 9.89E-01CD58 PMBL R-CHOP OS 2 3 2.27 [0.68-7.61] NA NACD58 PMBL R-CHOP PFS 2 3 2.12 [0.63-7.09] NA NACD79A ABC R-ACVBP OS 0 22 NA NA NACD79A ABC R-ACVBP PFS 0 22 NA NA NACD79A ABC R-CHOP OS 0 54 NA NA NACD79A ABC R-CHOP PFS 0 54 NA NA NACD79A all R-ACVBP OS 0 83 NA NA NACD79A all R-ACVBP PFS 0 83 NA NA NACD79A all R-CHOP OS 2 114 NA NA NACD79A all R-CHOP PFS 2 114 NA NA NACD79A GC R-ACVBP OS 0 37 NA NA NACD79A GC R-ACVBP PFS 0 37 NA NA NACD79A GC R-CHOP OS 2 38 NA NA NACD79A GC R-CHOP PFS 2 38 NA NA NACD79A Other R-ACVBP OS 0 14 NA NA NACD79A Other R-ACVBP PFS 0 14 NA NA NACD79A Other R-CHOP OS 0 17 NA NA NACD79A Other R-CHOP PFS 0 17 NA NA NACD79A PMBL R-ACVBP OS 0 10 NA NA NACD79A PMBL R-ACVBP PFS 0 10 NA NA NACD79A PMBL R-CHOP OS 0 5 NA NA NACD79A PMBL R-CHOP PFS 0 5 NA NA NACD79B ABC R-ACVBP OS 4 18 NA 4.99E-01 7.72E-01CD79B ABC R-ACVBP PFS 4 18 2.02 [0.37-11.08] 4.06E-01 8.30E-01CD79B ABC R-CHOP OS 16 38 0.35 [0.12-1.02] 4.44E-02 7.72E-01CD79B ABC R-CHOP PFS 16 38 0.33 [0.11-0.95] 3.07E-02 8.30E-01CD79B all R-ACVBP OS 4 79 NA NA NACD79B all R-ACVBP PFS 4 79 NA NA NACD79B all R-CHOP OS 19 97 0.31 [0.11-0.90] 3.13E-02 5.43E-01CD79B all R-CHOP PFS 19 97 0.29 [0.10-0.83] 2.15E-02 5.58E-01CD79B GC R-ACVBP OS 0 37 NA NA NACD79B GC R-ACVBP PFS 0 37 NA NA NACD79B GC R-CHOP OS 2 38 0.31 [0.11-0.90] NA NACD79B GC R-CHOP PFS 2 38 0.29 [0.10-0.83] NA NACD79B Other R-ACVBP OS 0 14 NA NA NACD79B Other R-ACVBP PFS 0 14 2.02 [0.37-11.08] NA NACD79B Other R-CHOP OS 1 16 0.35 [0.12-1.02] NA NACD79B Other R-CHOP PFS 1 16 0.33 [0.11-0.95] NA NACD79B PMBL R-ACVBP OS 0 10 NA NA NACD79B PMBL R-ACVBP PFS 0 10 2.02 [0.37-11.08] NA NACD79B PMBL R-CHOP OS 0 5 0.35 [0.12-1.02] NA NACD79B PMBL R-CHOP PFS 0 5 0.33 [0.11-0.95] NA NACDKN2A ABC R-ACVBP OS 0 22 NA NA NACDKN2A ABC R-ACVBP PFS 0 22 NA NA NACDKN2A ABC R-CHOP OS 2 52 NA NA NA

CDKN2A ABC R-CHOP PFS 2 52 NA NA NACDKN2A all R-ACVBP OS 0 83 NA NA NACDKN2A all R-ACVBP PFS 0 83 NA NA NACDKN2A all R-CHOP OS 3 113 NA NA NACDKN2A all R-CHOP PFS 3 113 NA NA NACDKN2A GC R-ACVBP OS 0 37 NA NA NACDKN2A GC R-ACVBP PFS 0 37 NA NA NACDKN2A GC R-CHOP OS 1 39 NA NA NACDKN2A GC R-CHOP PFS 1 39 NA NA NACDKN2A Other R-ACVBP OS 0 14 NA NA NACDKN2A Other R-ACVBP PFS 0 14 NA NA NACDKN2A Other R-CHOP OS 0 17 NA NA NACDKN2A Other R-CHOP PFS 0 17 NA NA NACDKN2A PMBL R-ACVBP OS 0 10 NA NA NACDKN2A PMBL R-ACVBP PFS 0 10 NA NA NACDKN2A PMBL R-CHOP OS 0 5 NA NA NACDKN2A PMBL R-CHOP PFS 0 5 NA NA NACDKN2B ABC R-ACVBP OS 0 22 NA NA NACDKN2B ABC R-ACVBP PFS 0 22 NA NA NACDKN2B ABC R-CHOP OS 0 54 NA NA NACDKN2B ABC R-CHOP PFS 0 54 NA NA NACDKN2B all R-ACVBP OS 0 83 NA NA NACDKN2B all R-ACVBP PFS 0 83 NA NA NACDKN2B all R-CHOP OS 1 115 NA NA NACDKN2B all R-CHOP PFS 1 115 NA NA NACDKN2B GC R-ACVBP OS 0 37 NA NA NACDKN2B GC R-ACVBP PFS 0 37 NA NA NACDKN2B GC R-CHOP OS 0 40 NA NA NACDKN2B GC R-CHOP PFS 0 40 NA NA NACDKN2B Other R-ACVBP OS 0 14 NA NA NACDKN2B Other R-ACVBP PFS 0 14 NA NA NACDKN2B Other R-CHOP OS 1 16 NA NA NACDKN2B Other R-CHOP PFS 1 16 NA NA NACDKN2B PMBL R-ACVBP OS 0 10 NA NA NACDKN2B PMBL R-ACVBP PFS 0 10 NA NA NACDKN2B PMBL R-CHOP OS 0 5 NA NA NACDKN2B PMBL R-CHOP PFS 0 5 NA NA NACIITA ABC R-ACVBP OS 3 19 NA 5.69E-01 7.72E-01CIITA ABC R-ACVBP PFS 3 19 NA 2.73E-01 8.30E-01CIITA ABC R-CHOP OS 7 47 1.37 [0.47-4.00] 5.59E-01 7.72E-01CIITA ABC R-CHOP PFS 7 47 1.29 [0.45-3.74] 6.38E-01 9.07E-01CIITA all R-ACVBP OS 11 72 0.72 [0.08-6.55] 7.67E-01 9.99E-01CIITA all R-ACVBP PFS 11 72 0.33 [0.04-2.64] 2.99E-01 7.56E-01CIITA all R-CHOP OS 16 100 1.38 [0.57-3.33] 4.71E-01 9.99E-01CIITA all R-CHOP PFS 16 100 1.02 [0.41-2.54] 9.72E-01 9.98E-01CIITA GC R-ACVBP OS 2 35 0.72 [0.08-6.55] NA NACIITA GC R-ACVBP PFS 2 35 0.33 [0.04-2.64] NA NACIITA GC R-CHOP OS 5 35 0.81 [0.10-6.39] 8.39E-01 9.45E-01

CIITA GC R-CHOP PFS 5 35 0.64 [0.08-4.98] 6.68E-01 9.07E-01CIITA Other R-ACVBP OS 2 12 1.73 [0.11-27.89] NA NACIITA Other R-ACVBP PFS 2 12 1.73 [0.11-27.89] NA NACIITA Other R-CHOP OS 0 17 1.37 [0.47-4.00] NA NACIITA Other R-CHOP PFS 0 17 1.29 [0.45-3.74] NA NACIITA PMBL R-ACVBP OS 4 6 1.73 [0.11-27.89] 6.95E-01 8.64E-01CIITA PMBL R-ACVBP PFS 4 6 1.73 [0.11-27.89] 6.95E-01 9.07E-01CIITA PMBL R-CHOP OS 4 1 1.37 [0.47-4.00] NA NACIITA PMBL R-CHOP PFS 4 1 1.29 [0.45-3.74] NA NACREBBP ABC R-ACVBP OS 1 21 1.04 [0.11-10.03] NA NACREBBP ABC R-ACVBP PFS 1 21 1.58 [0.29-8.66] NA NACREBBP ABC R-CHOP OS 4 50 0.84 [0.20-3.55] 8.09E-01 9.45E-01CREBBP ABC R-CHOP PFS 4 50 1.02 [0.24-4.31] 9.79E-01 9.89E-01CREBBP all R-ACVBP OS 11 72 0.92 [0.10-8.37] 9.40E-01 9.99E-01CREBBP all R-ACVBP PFS 11 72 1.14 [0.24-5.43] 8.73E-01 9.98E-01CREBBP all R-CHOP OS 28 88 1.42 [0.66-3.07] 3.69E-01 9.74E-01CREBBP all R-CHOP PFS 28 88 1.51 [0.74-3.05] 2.55E-01 7.56E-01CREBBP GC R-ACVBP OS 8 29 1.04 [0.11-10.03] 9.74E-01 9.75E-01CREBBP GC R-ACVBP PFS 8 29 1.58 [0.29-8.66] 5.92E-01 8.97E-01CREBBP GC R-CHOP OS 16 24 1.96 [0.55-6.96] 2.87E-01 7.72E-01CREBBP GC R-CHOP PFS 16 24 1.99 [0.63-6.28] 2.31E-01 8.30E-01CREBBP Other R-ACVBP OS 2 12 1.04 [0.11-10.03] NA NACREBBP Other R-ACVBP PFS 2 12 1.58 [0.29-8.66] NA NACREBBP Other R-CHOP OS 6 11 NA 6.15E-02 7.72E-01CREBBP Other R-CHOP PFS 6 11 5.87 [0.61-56.46] 8.22E-02 8.30E-01CREBBP PMBL R-ACVBP OS 0 10 1.04 [0.11-10.03] NA NACREBBP PMBL R-ACVBP PFS 0 10 1.58 [0.29-8.66] NA NACREBBP PMBL R-CHOP OS 2 3 0.84 [0.20-3.55] NA NACREBBP PMBL R-CHOP PFS 2 3 1.02 [0.24-4.31] NA NAEP300 ABC R-ACVBP OS 1 21 NA NA NAEP300 ABC R-ACVBP PFS 1 21 NA NA NAEP300 ABC R-CHOP OS 10 44 1.69 [0.68-4.22] 2.57E-01 7.72E-01EP300 ABC R-CHOP PFS 10 44 1.57 [0.63-3.92] 3.31E-01 8.30E-01EP300 all R-ACVBP OS 12 71 0.00 [0.00-Inf] 9.99E-01 9.99E-01EP300 all R-ACVBP PFS 12 71 0.80 [0.17-3.85] 7.83E-01 9.98E-01EP300 all R-CHOP OS 19 97 0.89 [0.37-2.12] 7.92E-01 9.99E-01EP300 all R-CHOP PFS 19 97 1.09 [0.51-2.33] 8.24E-01 9.98E-01EP300 GC R-ACVBP OS 6 31 NA 3.60E-01 7.72E-01EP300 GC R-ACVBP PFS 6 31 NA 2.45E-01 8.30E-01EP300 GC R-CHOP OS 5 35 NA 1.62E-01 7.72E-01EP300 GC R-CHOP PFS 5 35 NA 1.21E-01 8.30E-01EP300 Other R-ACVBP OS 3 11 NA NA NAEP300 Other R-ACVBP PFS 3 11 NA 5.13E-01 8.84E-01EP300 Other R-CHOP OS 3 14 NA 5.50E-01 7.72E-01EP300 Other R-CHOP PFS 3 14 1.65 [0.17-15.89] 6.62E-01 9.07E-01EP300 PMBL R-ACVBP OS 2 8 NA NA NAEP300 PMBL R-ACVBP PFS 2 8 NA NA NAEP300 PMBL R-CHOP OS 1 4 1.69 [0.68-4.22] NA NA

EP300 PMBL R-CHOP PFS 1 4 1.57 [0.63-3.92] NA NAEZH2 ABC R-ACVBP OS 0 22 NA NA NAEZH2 ABC R-ACVBP PFS 0 22 0.76 [0.09-6.52] NA NAEZH2 ABC R-CHOP OS 0 54 0.48 [0.06-3.78] NA NAEZH2 ABC R-CHOP PFS 0 54 0.37 [0.05-2.83] NA NAEZH2 all R-ACVBP OS 10 73 0.00 [0.00-Inf] 9.99E-01 9.99E-01EZH2 all R-ACVBP PFS 10 73 0.61 [0.07-4.89] 6.38E-01 9.37E-01EZH2 all R-CHOP OS 9 107 0.39 [0.05-2.99] 3.62E-01 9.74E-01EZH2 all R-CHOP PFS 9 107 1.08 [0.31-3.81] 9.07E-01 9.98E-01EZH2 GC R-ACVBP OS 8 29 NA 3.12E-01 7.72E-01EZH2 GC R-ACVBP PFS 8 29 0.76 [0.09-6.52] 8.03E-01 9.43E-01EZH2 GC R-CHOP OS 7 33 0.48 [0.06-3.78] 4.75E-01 7.72E-01EZH2 GC R-CHOP PFS 7 33 0.37 [0.05-2.83] 3.15E-01 8.30E-01EZH2 Other R-ACVBP OS 1 13 NA NA NAEZH2 Other R-ACVBP PFS 1 13 0.76 [0.09-6.52] NA NAEZH2 Other R-CHOP OS 2 15 0.48 [0.06-3.78] NA NAEZH2 Other R-CHOP PFS 2 15 0.37 [0.05-2.83] NA NAEZH2 PMBL R-ACVBP OS 1 9 NA NA NAEZH2 PMBL R-ACVBP PFS 1 9 0.76 [0.09-6.52] NA NAEZH2 PMBL R-CHOP OS 0 5 0.48 [0.06-3.78] NA NAEZH2 PMBL R-CHOP PFS 0 5 0.37 [0.05-2.83] NA NAFOXO1 ABC R-ACVBP OS 1 21 NA NA NAFOXO1 ABC R-ACVBP PFS 1 21 NA NA NAFOXO1 ABC R-CHOP OS 2 52 3.87 [1.00-15.07] NA NAFOXO1 ABC R-CHOP PFS 2 52 2.92 [0.79-10.87] NA NAFOXO1 all R-ACVBP OS 6 77 0.00 [0.00-Inf] 9.99E-01 9.99E-01FOXO1 all R-ACVBP PFS 6 77 0.00 [0.00-Inf] 9.98E-01 9.98E-01FOXO1 all R-CHOP OS 8 108 1.34 [0.41-4.39] 6.31E-01 9.99E-01FOXO1 all R-CHOP PFS 8 108 1.11 [0.34-3.63] 8.58E-01 9.98E-01FOXO1 GC R-ACVBP OS 4 33 NA 4.96E-01 7.72E-01FOXO1 GC R-ACVBP PFS 4 33 NA 3.82E-01 8.30E-01FOXO1 GC R-CHOP OS 5 35 3.87 [1.00-15.07] 3.53E-02 7.72E-01FOXO1 GC R-CHOP PFS 5 35 2.92 [0.79-10.87] 9.31E-02 8.30E-01FOXO1 Other R-ACVBP OS 0 14 NA NA NAFOXO1 Other R-ACVBP PFS 0 14 NA NA NAFOXO1 Other R-CHOP OS 1 16 3.87 [1.00-15.07] NA NAFOXO1 Other R-CHOP PFS 1 16 2.92 [0.79-10.87] NA NAFOXO1 PMBL R-ACVBP OS 1 9 NA NA NAFOXO1 PMBL R-ACVBP PFS 1 9 NA NA NAFOXO1 PMBL R-CHOP OS 0 5 3.87 [1.00-15.07] NA NAFOXO1 PMBL R-CHOP PFS 0 5 2.92 [0.79-10.87] NA NAGNA13 ABC R-ACVBP OS 2 20 NA NA NAGNA13 ABC R-ACVBP PFS 2 20 NA NA NAGNA13 ABC R-CHOP OS 5 49 3.68 [1.21-11.15] 1.36E-02 5.94E-01GNA13 ABC R-CHOP PFS 5 49 5.89 [1.86-18.64] 6.47E-04 3.04E-02GNA13 all R-ACVBP OS 13 70 0.42 [0.04-4.35] 4.64E-01 9.99E-01GNA13 all R-ACVBP PFS 13 70 0.24 [0.03-2.10] 1.97E-01 7.31E-01GNA13 all R-CHOP OS 15 101 1.82 [0.70-4.69] 2.17E-01 9.74E-01

GNA13 all R-CHOP PFS 15 101 1.62 [0.65-4.04] 2.98E-01 7.56E-01GNA13 GC R-ACVBP OS 3 34 NA 5.49E-01 7.72E-01GNA13 GC R-ACVBP PFS 3 34 NA 4.46E-01 8.30E-01GNA13 GC R-CHOP OS 6 34 0.84 [0.10-6.96] 8.69E-01 9.45E-01GNA13 GC R-CHOP PFS 6 34 0.70 [0.09-5.64] 7.40E-01 9.33E-01GNA13 Other R-ACVBP OS 2 12 0.73 [0.05-11.71] NA NAGNA13 Other R-ACVBP PFS 2 12 0.73 [0.05-11.71] NA NAGNA13 Other R-CHOP OS 2 15 3.68 [1.21-11.15] NA NAGNA13 Other R-CHOP PFS 2 15 5.89 [1.86-18.64] NA NAGNA13 PMBL R-ACVBP OS 6 4 0.73 [0.05-11.71] 8.24E-01 9.45E-01GNA13 PMBL R-ACVBP PFS 6 4 0.73 [0.05-11.71] 8.24E-01 9.56E-01GNA13 PMBL R-CHOP OS 2 3 3.68 [1.21-11.15] NA NAGNA13 PMBL R-CHOP PFS 2 3 5.89 [1.86-18.64] NA NAID3 ABC R-ACVBP OS 2 20 0.00 [0.00-Inf] NA NAID3 ABC R-ACVBP PFS 2 20 2.03 [0.43-9.60] NA NAID3 ABC R-CHOP OS 2 52 0.66 [0.09-4.87] NA NAID3 ABC R-CHOP PFS 2 52 0.99 [0.24-4.09] NA NAID3 all R-ACVBP OS 5 78 0.00 [0.00-Inf] 9.99E-01 9.99E-01ID3 all R-ACVBP PFS 5 78 2.03 [0.43-9.60] 3.72E-01 8.40E-01ID3 all R-CHOP OS 5 111 0.66 [0.09-4.87] 6.87E-01 9.99E-01ID3 all R-CHOP PFS 5 111 0.99 [0.24-4.09] 9.83E-01 9.98E-01ID3 GC R-ACVBP OS 1 36 0.00 [0.00-Inf] NA NAID3 GC R-ACVBP PFS 1 36 2.03 [0.43-9.60] NA NAID3 GC R-CHOP OS 1 39 0.66 [0.09-4.87] NA NAID3 GC R-CHOP PFS 1 39 0.99 [0.24-4.09] NA NAID3 Other R-ACVBP OS 2 12 0.00 [0.00-Inf] NA NAID3 Other R-ACVBP PFS 2 12 2.03 [0.43-9.60] NA NAID3 Other R-CHOP OS 1 16 0.66 [0.09-4.87] NA NAID3 Other R-CHOP PFS 1 16 0.99 [0.24-4.09] NA NAID3 PMBL R-ACVBP OS 0 10 0.00 [0.00-Inf] NA NAID3 PMBL R-ACVBP PFS 0 10 2.03 [0.43-9.60] NA NAID3 PMBL R-CHOP OS 1 4 0.66 [0.09-4.87] NA NAID3 PMBL R-CHOP PFS 1 4 0.99 [0.24-4.09] NA NAIRF4 ABC R-ACVBP OS 4 18 4.37 [0.27-69.94] 2.54E-01 7.72E-01IRF4 ABC R-ACVBP PFS 4 18 0.85 [0.10-7.34] 8.86E-01 9.89E-01IRF4 ABC R-CHOP OS 7 47 2.12 [0.80-5.67] 1.24E-01 7.72E-01IRF4 ABC R-CHOP PFS 7 47 1.98 [0.74-5.27] 1.64E-01 8.30E-01IRF4 all R-ACVBP OS 7 76 1.26 [0.15-10.58] 8.31E-01 9.99E-01IRF4 all R-ACVBP PFS 7 76 0.59 [0.08-4.60] 6.14E-01 9.37E-01IRF4 all R-CHOP OS 10 106 2.53 [1.10-5.87] 2.98E-02 5.43E-01IRF4 all R-CHOP PFS 10 106 2.01 [0.87-4.63] 1.02E-01 7.20E-01IRF4 GC R-ACVBP OS 2 35 1.26 [0.15-10.58] NA NAIRF4 GC R-ACVBP PFS 2 35 0.59 [0.08-4.60] NA NAIRF4 GC R-CHOP OS 2 38 2.53 [1.10-5.87] NA NAIRF4 GC R-CHOP PFS 2 38 2.01 [0.87-4.63] NA NAIRF4 Other R-ACVBP OS 0 14 4.37 [0.27-69.94] NA NAIRF4 Other R-ACVBP PFS 0 14 0.85 [0.10-7.34] NA NAIRF4 Other R-CHOP OS 0 17 2.12 [0.80-5.67] NA NA

IRF4 Other R-CHOP PFS 0 17 1.98 [0.74-5.27] NA NAIRF4 PMBL R-ACVBP OS 1 9 4.37 [0.27-69.94] NA NAIRF4 PMBL R-ACVBP PFS 1 9 0.85 [0.10-7.34] NA NAIRF4 PMBL R-CHOP OS 1 4 2.12 [0.80-5.67] NA NAIRF4 PMBL R-CHOP PFS 1 4 1.98 [0.74-5.27] NA NAITPKB ABC R-ACVBP OS 5 17 NA 4.36E-01 7.72E-01ITPKB ABC R-ACVBP PFS 5 17 NA 1.68E-01 8.30E-01ITPKB ABC R-CHOP OS 2 52 1.92 [0.41-9.07] NA NAITPKB ABC R-CHOP PFS 2 52 1.73 [0.38-7.94] NA NAITPKB all R-ACVBP OS 16 67 2.22 [0.53-9.32] 2.76E-01 9.74E-01ITPKB all R-ACVBP PFS 16 67 1.48 [0.47-4.68] 5.08E-01 8.66E-01ITPKB all R-CHOP OS 13 103 1.11 [0.34-3.67] 8.60E-01 9.99E-01ITPKB all R-CHOP PFS 13 103 0.92 [0.30-2.84] 8.91E-01 9.98E-01ITPKB GC R-ACVBP OS 8 29 3.89 [0.54-28.04] 1.47E-01 7.72E-01ITPKB GC R-ACVBP PFS 8 29 4.28 [0.84-21.88] 5.78E-02 8.30E-01ITPKB GC R-CHOP OS 5 35 1.92 [0.41-9.07] 4.00E-01 7.72E-01ITPKB GC R-CHOP PFS 5 35 1.73 [0.38-7.94] 4.73E-01 8.56E-01ITPKB Other R-ACVBP OS 1 13 NA NA NAITPKB Other R-ACVBP PFS 1 13 NA NA NAITPKB Other R-CHOP OS 2 15 1.92 [0.41-9.07] NA NAITPKB Other R-CHOP PFS 2 15 1.73 [0.38-7.94] NA NAITPKB PMBL R-ACVBP OS 2 8 NA NA NAITPKB PMBL R-ACVBP PFS 2 8 NA NA NAITPKB PMBL R-CHOP OS 4 1 1.92 [0.41-9.07] NA NAITPKB PMBL R-CHOP PFS 4 1 1.73 [0.38-7.94] NA NAKMT2D ABC R-ACVBP OS 8 14 1.69 [0.11-26.97] 7.09E-01 8.68E-01KMT2D ABC R-ACVBP PFS 8 14 0.79 [0.14-4.32] 7.83E-01 9.33E-01KMT2D ABC R-CHOP OS 23 31 1.33 [0.62-2.84] 4.67E-01 7.72E-01KMT2D ABC R-CHOP PFS 23 31 1.27 [0.59-2.72] 5.36E-01 8.84E-01KMT2D all R-ACVBP OS 28 55 1.07 [0.25-4.47] 9.31E-01 9.99E-01KMT2D all R-ACVBP PFS 28 55 0.80 [0.28-2.32] 6.85E-01 9.37E-01KMT2D all R-CHOP OS 56 60 1.28 [0.68-2.41] 4.40E-01 9.99E-01KMT2D all R-CHOP PFS 56 60 1.22 [0.67-2.23] 5.12E-01 8.66E-01KMT2D GC R-ACVBP OS 13 24 1.65 [0.23-11.72] 6.16E-01 8.12E-01KMT2D GC R-ACVBP PFS 13 24 1.66 [0.33-8.24] 5.32E-01 8.84E-01KMT2D GC R-CHOP OS 24 16 1.12 [0.31-4.01] 8.65E-01 9.45E-01KMT2D GC R-CHOP PFS 24 16 1.06 [0.33-3.36] 9.22E-01 9.89E-01KMT2D Other R-ACVBP OS 4 10 NA NA NAKMT2D Other R-ACVBP PFS 4 10 NA 3.88E-01 8.30E-01KMT2D Other R-CHOP OS 9 8 1.22 [0.07-20.14] 8.91E-01 9.57E-01KMT2D Other R-CHOP PFS 9 8 0.89 [0.13-6.37] 9.10E-01 9.89E-01KMT2D PMBL R-ACVBP OS 3 7 NA 3.35E-01 7.72E-01KMT2D PMBL R-ACVBP PFS 3 7 NA 3.35E-01 8.30E-01KMT2D PMBL R-CHOP OS 0 5 1.33 [0.62-2.84] NA NAKMT2D PMBL R-CHOP PFS 0 5 1.27 [0.59-2.72] NA NAMEF2B ABC R-ACVBP OS 4 18 4.37 [0.27-69.94] 2.54E-01 7.72E-01MEF2B ABC R-ACVBP PFS 4 18 2.87 [0.52-15.84] 2.06E-01 8.30E-01MEF2B ABC R-CHOP OS 6 48 0.53 [0.13-2.24] 3.80E-01 7.72E-01

MEF2B ABC R-CHOP PFS 6 48 0.46 [0.11-1.95] 2.81E-01 8.30E-01MEF2B all R-ACVBP OS 12 71 0.90 [0.11-7.74] 9.27E-01 9.99E-01MEF2B all R-ACVBP PFS 12 71 1.57 [0.43-5.69] 4.91E-01 8.66E-01MEF2B all R-CHOP OS 19 97 0.74 [0.29-1.91] 5.37E-01 9.99E-01MEF2B all R-CHOP PFS 19 97 0.73 [0.31-1.74] 4.81E-01 8.66E-01MEF2B GC R-ACVBP OS 7 30 NA 3.45E-01 7.72E-01MEF2B GC R-ACVBP PFS 7 30 0.97 [0.11-8.30] 9.77E-01 9.89E-01MEF2B GC R-CHOP OS 11 29 1.69 [0.41-6.88] 4.61E-01 7.72E-01MEF2B GC R-CHOP PFS 11 29 1.24 [0.33-4.73] 7.52E-01 9.33E-01MEF2B Other R-ACVBP OS 1 13 4.37 [0.27-69.94] NA NAMEF2B Other R-ACVBP PFS 1 13 2.87 [0.52-15.84] NA NAMEF2B Other R-CHOP OS 1 16 0.53 [0.13-2.24] NA NAMEF2B Other R-CHOP PFS 1 16 0.46 [0.11-1.95] NA NAMEF2B PMBL R-ACVBP OS 0 10 4.37 [0.27-69.94] NA NAMEF2B PMBL R-ACVBP PFS 0 10 2.87 [0.52-15.84] NA NAMEF2B PMBL R-CHOP OS 1 4 0.53 [0.13-2.24] NA NAMEF2B PMBL R-CHOP PFS 1 4 0.46 [0.11-1.95] NA NAMFHAS1 ABC R-ACVBP OS 0 22 NA NA NAMFHAS1 ABC R-ACVBP PFS 0 22 NA NA NAMFHAS1 ABC R-CHOP OS 1 53 2.94 [0.62-13.87] NA NAMFHAS1 ABC R-CHOP PFS 1 53 2.78 [0.61-12.70] NA NAMFHAS1 all R-ACVBP OS 10 73 0.00 [0.00-Inf] 9.99E-01 9.99E-01MFHAS1 all R-ACVBP PFS 10 73 0.00 [0.00-Inf] 9.98E-01 9.98E-01MFHAS1 all R-CHOP OS 7 109 1.64 [0.55-4.85] 3.75E-01 9.74E-01MFHAS1 all R-CHOP PFS 7 109 2.15 [0.80-5.73] 1.28E-01 7.20E-01MFHAS1 GC R-ACVBP OS 5 32 NA 3.97E-01 7.72E-01MFHAS1 GC R-ACVBP PFS 5 32 NA 3.00E-01 8.30E-01MFHAS1 GC R-CHOP OS 3 37 2.94 [0.62-13.87] 1.53E-01 7.72E-01MFHAS1 GC R-CHOP PFS 3 37 2.78 [0.61-12.70] 1.70E-01 8.30E-01MFHAS1 Other R-ACVBP OS 2 12 NA NA NAMFHAS1 Other R-ACVBP PFS 2 12 NA NA NAMFHAS1 Other R-CHOP OS 1 16 2.94 [0.62-13.87] NA NAMFHAS1 Other R-CHOP PFS 1 16 2.78 [0.61-12.70] NA NAMFHAS1 PMBL R-ACVBP OS 3 7 NA 3.35E-01 7.72E-01MFHAS1 PMBL R-ACVBP PFS 3 7 NA 3.35E-01 8.30E-01MFHAS1 PMBL R-CHOP OS 2 3 2.94 [0.62-13.87] NA NAMFHAS1 PMBL R-CHOP PFS 2 3 2.78 [0.61-12.70] NA NAMYC ABC R-ACVBP OS 0 22 3.73 [0.39-35.89] NA NAMYC ABC R-ACVBP PFS 0 22 2.28 [0.26-19.71] NA NAMYC ABC R-CHOP OS 4 50 NA 1.01E-01 7.72E-01MYC ABC R-CHOP PFS 4 50 NA 9.11E-02 8.30E-01MYC all R-ACVBP OS 4 79 NA NA NAMYC all R-ACVBP PFS 4 79 NA NA NAMYC all R-CHOP OS 8 108 0.90 [0.28-2.94] 8.66E-01 9.99E-01MYC all R-CHOP PFS 8 108 0.77 [0.24-2.50] 6.69E-01 9.37E-01MYC GC R-ACVBP OS 4 33 3.73 [0.39-35.89] 2.22E-01 7.72E-01MYC GC R-ACVBP PFS 4 33 2.28 [0.26-19.71] 4.40E-01 8.30E-01MYC GC R-CHOP OS 2 38 0.90 [0.28-2.94] NA NA

MYC GC R-CHOP PFS 2 38 0.77 [0.24-2.50] NA NAMYC Other R-ACVBP OS 0 14 3.73 [0.39-35.89] NA NAMYC Other R-ACVBP PFS 0 14 2.28 [0.26-19.71] NA NAMYC Other R-CHOP OS 1 16 NA NA NAMYC Other R-CHOP PFS 1 16 NA NA NAMYC PMBL R-ACVBP OS 0 10 3.73 [0.39-35.89] NA NAMYC PMBL R-ACVBP PFS 0 10 2.28 [0.26-19.71] NA NAMYC PMBL R-CHOP OS 1 4 NA NA NAMYC PMBL R-CHOP PFS 1 4 NA NA NAMYD88 ABC R-ACVBP OS 6 16 2.92 [0.18-46.84] 4.27E-01 7.72E-01MYD88 ABC R-ACVBP PFS 6 16 0.50 [0.06-4.33] 5.22E-01 8.84E-01MYD88 ABC R-CHOP OS 17 37 0.65 [0.27-1.56] 3.33E-01 7.72E-01MYD88 ABC R-CHOP PFS 17 37 0.67 [0.28-1.59] 3.59E-01 8.30E-01MYD88 all R-ACVBP OS 13 70 1.00 [0.11-8.84] 9.99E-01 9.99E-01MYD88 all R-ACVBP PFS 13 70 0.26 [0.03-2.01] 1.96E-01 7.31E-01MYD88 all R-CHOP OS 22 94 0.53 [0.23-1.25] 1.49E-01 9.31E-01MYD88 all R-CHOP PFS 22 94 0.63 [0.28-1.39] 2.50E-01 7.56E-01MYD88 GC R-ACVBP OS 4 33 NA 4.57E-01 7.72E-01MYD88 GC R-ACVBP PFS 4 33 NA 3.49E-01 8.30E-01MYD88 GC R-CHOP OS 4 36 NA 2.66E-01 7.72E-01MYD88 GC R-CHOP PFS 4 36 0.81 [0.10-6.30] 8.36E-01 9.58E-01MYD88 Other R-ACVBP OS 3 11 NA NA NAMYD88 Other R-ACVBP PFS 3 11 NA 3.88E-01 8.30E-01MYD88 Other R-CHOP OS 1 16 0.65 [0.27-1.56] NA NAMYD88 Other R-CHOP PFS 1 16 0.67 [0.28-1.59] NA NAMYD88 PMBL R-ACVBP OS 0 10 2.92 [0.18-46.84] NA NAMYD88 PMBL R-ACVBP PFS 0 10 0.50 [0.06-4.33] NA NAMYD88 PMBL R-CHOP OS 0 5 0.65 [0.27-1.56] NA NAMYD88 PMBL R-CHOP PFS 0 5 0.67 [0.28-1.59] NA NANOTCH1 ABC R-ACVBP OS 0 22 NA NA NANOTCH1 ABC R-ACVBP PFS 0 22 NA NA NANOTCH1 ABC R-CHOP OS 5 49 0.61 [0.08-4.57] 6.30E-01 8.18E-01NOTCH1 ABC R-CHOP PFS 5 49 0.47 [0.06-3.47] 4.47E-01 8.30E-01NOTCH1 all R-ACVBP OS 1 82 NA NA NANOTCH1 all R-ACVBP PFS 1 82 NA NA NANOTCH1 all R-CHOP OS 8 108 0.38 [0.05-2.81] 3.43E-01 9.74E-01NOTCH1 all R-CHOP PFS 8 108 0.20 [0.03-1.54] 1.23E-01 7.20E-01NOTCH1 GC R-ACVBP OS 0 37 NA NA NANOTCH1 GC R-ACVBP PFS 0 37 NA NA NANOTCH1 GC R-CHOP OS 1 39 0.38 [0.05-2.81] NA NANOTCH1 GC R-CHOP PFS 1 39 0.20 [0.03-1.54] NA NANOTCH1 Other R-ACVBP OS 1 13 NA NA NANOTCH1 Other R-ACVBP PFS 1 13 NA NA NANOTCH1 Other R-CHOP OS 1 16 0.61 [0.08-4.57] NA NANOTCH1 Other R-CHOP PFS 1 16 0.47 [0.06-3.47] NA NANOTCH1 PMBL R-ACVBP OS 0 10 NA NA NANOTCH1 PMBL R-ACVBP PFS 0 10 NA NA NANOTCH1 PMBL R-CHOP OS 1 4 0.61 [0.08-4.57] NA NA

NOTCH1 PMBL R-CHOP PFS 1 4 0.47 [0.06-3.47] NA NANOTCH2 ABC R-ACVBP OS 1 21 NA NA NANOTCH2 ABC R-ACVBP PFS 1 21 NA NA NANOTCH2 ABC R-CHOP OS 1 53 0.83 [0.10-6.65] NA NANOTCH2 ABC R-CHOP PFS 1 53 0.73 [0.09-5.71] NA NANOTCH2 all R-ACVBP OS 4 79 NA NA NANOTCH2 all R-ACVBP PFS 4 79 NA NA NANOTCH2 all R-CHOP OS 10 106 1.78 [0.58-5.46] 3.10E-01 9.74E-01NOTCH2 all R-CHOP PFS 10 106 1.26 [0.43-3.73] 6.74E-01 9.37E-01NOTCH2 GC R-ACVBP OS 2 35 NA NA NANOTCH2 GC R-ACVBP PFS 2 35 NA NA NANOTCH2 GC R-CHOP OS 5 35 0.83 [0.10-6.65] 8.64E-01 9.45E-01NOTCH2 GC R-CHOP PFS 5 35 0.73 [0.09-5.71] 7.67E-01 9.33E-01NOTCH2 Other R-ACVBP OS 1 13 NA NA NANOTCH2 Other R-ACVBP PFS 1 13 NA NA NANOTCH2 Other R-CHOP OS 4 13 4.51 [0.38-53.06] 1.97E-01 7.72E-01NOTCH2 Other R-CHOP PFS 4 13 1.85 [0.29-11.85] 5.10E-01 8.84E-01NOTCH2 PMBL R-ACVBP OS 0 10 NA NA NANOTCH2 PMBL R-ACVBP PFS 0 10 NA NA NANOTCH2 PMBL R-CHOP OS 0 5 0.83 [0.10-6.65] NA NANOTCH2 PMBL R-CHOP PFS 0 5 0.73 [0.09-5.71] NA NAPIM1 ABC R-ACVBP OS 6 16 2.92 [0.18-46.84] 4.27E-01 7.72E-01PIM1 ABC R-ACVBP PFS 6 16 3.03 [0.61-15.04] 1.53E-01 8.30E-01PIM1 ABC R-CHOP OS 19 35 0.52 [0.22-1.23] 1.27E-01 7.72E-01PIM1 ABC R-CHOP PFS 19 35 0.52 [0.22-1.23] 1.31E-01 8.30E-01PIM1 all R-ACVBP OS 9 74 1.20 [0.13-10.85] 8.73E-01 9.99E-01PIM1 all R-ACVBP PFS 9 74 1.59 [0.42-6.02] 4.93E-01 8.66E-01PIM1 all R-CHOP OS 25 91 0.54 [0.24-1.22] 1.40E-01 9.31E-01PIM1 all R-CHOP PFS 25 91 0.51 [0.23-1.14] 9.97E-02 7.20E-01PIM1 GC R-ACVBP OS 3 34 NA 5.26E-01 7.72E-01PIM1 GC R-ACVBP PFS 3 34 NA 4.26E-01 8.30E-01PIM1 GC R-CHOP OS 4 36 1.13 [0.14-9.10] 9.08E-01 9.59E-01PIM1 GC R-CHOP PFS 4 36 1.03 [0.13-8.07] 9.77E-01 9.89E-01PIM1 Other R-ACVBP OS 0 14 2.92 [0.18-46.84] NA NAPIM1 Other R-ACVBP PFS 0 14 3.03 [0.61-15.04] NA NAPIM1 Other R-CHOP OS 2 15 0.52 [0.22-1.23] NA NAPIM1 Other R-CHOP PFS 2 15 0.52 [0.22-1.23] NA NAPIM1 PMBL R-ACVBP OS 0 10 2.92 [0.18-46.84] NA NAPIM1 PMBL R-ACVBP PFS 0 10 3.03 [0.61-15.04] NA NAPIM1 PMBL R-CHOP OS 0 5 0.52 [0.22-1.23] NA NAPIM1 PMBL R-CHOP PFS 0 5 0.52 [0.22-1.23] NA NAPRDM1 ABC R-ACVBP OS 1 21 NA NA NAPRDM1 ABC R-ACVBP PFS 1 21 NA NA NAPRDM1 ABC R-CHOP OS 12 42 0.45 [0.15-1.36] 1.49E-01 7.72E-01PRDM1 ABC R-CHOP PFS 12 42 0.51 [0.18-1.48] 2.05E-01 8.30E-01PRDM1 all R-ACVBP OS 4 79 NA NA NAPRDM1 all R-ACVBP PFS 4 79 NA NA NAPRDM1 all R-CHOP OS 15 101 0.48 [0.18-1.29] 1.46E-01 9.31E-01

PRDM1 all R-CHOP PFS 15 101 0.51 [0.19-1.33] 1.66E-01 7.20E-01PRDM1 GC R-ACVBP OS 2 35 NA NA NAPRDM1 GC R-ACVBP PFS 2 35 NA NA NAPRDM1 GC R-CHOP OS 3 37 1.11 [0.14-8.82] 9.18E-01 9.59E-01PRDM1 GC R-CHOP PFS 3 37 0.89 [0.11-6.88] 9.08E-01 9.89E-01PRDM1 Other R-ACVBP OS 1 13 NA NA NAPRDM1 Other R-ACVBP PFS 1 13 NA NA NAPRDM1 Other R-CHOP OS 0 17 0.45 [0.15-1.36] NA NAPRDM1 Other R-CHOP PFS 0 17 0.51 [0.18-1.48] NA NAPRDM1 PMBL R-ACVBP OS 0 10 NA NA NAPRDM1 PMBL R-ACVBP PFS 0 10 NA NA NAPRDM1 PMBL R-CHOP OS 0 5 0.45 [0.15-1.36] NA NAPRDM1 PMBL R-CHOP PFS 0 5 0.51 [0.18-1.48] NA NASOCS1 ABC R-ACVBP OS 2 20 NA NA NASOCS1 ABC R-ACVBP PFS 2 20 NA NA NASOCS1 ABC R-CHOP OS 2 52 1.28 [0.27-6.04] NA NASOCS1 ABC R-CHOP PFS 2 52 0.96 [0.21-4.38] NA NASOCS1 all R-ACVBP OS 18 65 0.78 [0.12-5.07] 7.96E-01 9.99E-01SOCS1 all R-ACVBP PFS 18 65 0.43 [0.09-2.16] 3.05E-01 7.56E-01SOCS1 all R-CHOP OS 11 105 0.97 [0.33-2.81] 9.52E-01 9.99E-01SOCS1 all R-CHOP PFS 11 105 1.03 [0.40-2.68] 9.54E-01 9.98E-01SOCS1 GC R-ACVBP OS 6 31 NA 3.60E-01 7.72E-01SOCS1 GC R-ACVBP PFS 6 31 NA 2.45E-01 8.30E-01SOCS1 GC R-CHOP OS 6 34 1.28 [0.27-6.04] 7.54E-01 8.98E-01SOCS1 GC R-CHOP PFS 6 34 0.96 [0.21-4.38] 9.56E-01 9.89E-01SOCS1 Other R-ACVBP OS 3 11 NA NA NASOCS1 Other R-ACVBP PFS 3 11 NA 6.17E-01 9.06E-01SOCS1 Other R-CHOP OS 1 16 1.28 [0.27-6.04] NA NASOCS1 Other R-CHOP PFS 1 16 0.96 [0.21-4.38] NA NASOCS1 PMBL R-ACVBP OS 7 3 NA 3.35E-01 7.72E-01SOCS1 PMBL R-ACVBP PFS 7 3 NA 3.35E-01 8.30E-01SOCS1 PMBL R-CHOP OS 2 3 1.28 [0.27-6.04] NA NASOCS1 PMBL R-CHOP PFS 2 3 0.96 [0.21-4.38] NA NASTAT6 ABC R-ACVBP OS 0 22 NA NA NASTAT6 ABC R-ACVBP PFS 0 22 0.73 [0.08-6.25] NA NASTAT6 ABC R-CHOP OS 0 54 NA NA NASTAT6 ABC R-CHOP PFS 0 54 0.62 [0.08-4.84] NA NASTAT6 all R-ACVBP OS 16 67 0.18 [0.02-2.03] 1.65E-01 9.31E-01STAT6 all R-ACVBP PFS 16 67 0.41 [0.06-2.72] 3.58E-01 8.40E-01STAT6 all R-CHOP OS 8 108 0.22 [0.03-1.99] 1.79E-01 9.31E-01STAT6 all R-CHOP PFS 8 108 0.41 [0.09-1.78] 2.35E-01 7.56E-01STAT6 GC R-ACVBP OS 7 30 NA 3.12E-01 7.72E-01STAT6 GC R-ACVBP PFS 7 30 0.73 [0.08-6.25] 7.71E-01 9.33E-01STAT6 GC R-CHOP OS 4 36 NA 2.00E-01 7.72E-01STAT6 GC R-CHOP PFS 4 36 0.62 [0.08-4.84] 6.48E-01 9.07E-01STAT6 Other R-ACVBP OS 1 13 NA NA NASTAT6 Other R-ACVBP PFS 1 13 0.73 [0.08-6.25] NA NASTAT6 Other R-CHOP OS 1 16 NA NA NA

STAT6 Other R-CHOP PFS 1 16 0.62 [0.08-4.84] NA NASTAT6 PMBL R-ACVBP OS 8 2 NA NA NASTAT6 PMBL R-ACVBP PFS 8 2 0.73 [0.08-6.25] NA NASTAT6 PMBL R-CHOP OS 3 2 NA NA NASTAT6 PMBL R-CHOP PFS 3 2 0.62 [0.08-4.84] NA NATCF3 ABC R-ACVBP OS 1 21 NA NA NATCF3 ABC R-ACVBP PFS 1 21 NA NA NATCF3 ABC R-CHOP OS 0 54 NA NA NATCF3 ABC R-CHOP PFS 0 54 NA NA NATCF3 all R-ACVBP OS 2 81 NA NA NATCF3 all R-ACVBP PFS 2 81 NA NA NATCF3 all R-CHOP OS 1 115 NA NA NATCF3 all R-CHOP PFS 1 115 NA NA NATCF3 GC R-ACVBP OS 1 36 NA NA NATCF3 GC R-ACVBP PFS 1 36 NA NA NATCF3 GC R-CHOP OS 1 39 NA NA NATCF3 GC R-CHOP PFS 1 39 NA NA NATCF3 Other R-ACVBP OS 0 14 NA NA NATCF3 Other R-ACVBP PFS 0 14 NA NA NATCF3 Other R-CHOP OS 0 17 NA NA NATCF3 Other R-CHOP PFS 0 17 NA NA NATCF3 PMBL R-ACVBP OS 0 10 NA NA NATCF3 PMBL R-ACVBP PFS 0 10 NA NA NATCF3 PMBL R-CHOP OS 0 5 NA NA NATCF3 PMBL R-CHOP PFS 0 5 NA NA NATNFAIP3 ABC R-ACVBP OS 5 17 NA 4.36E-01 7.72E-01TNFAIP3 ABC R-ACVBP PFS 5 17 NA 1.42E-01 8.30E-01TNFAIP3 ABC R-CHOP OS 6 48 9.04 [2.82-28.98] 9.03E-06 7.86E-04TNFAIP3 ABC R-CHOP PFS 6 48 5.59 [1.91-16.39] 4.29E-04 3.04E-02TNFAIP3 all R-ACVBP OS 18 65 0.31 [0.03-3.01] 3.14E-01 9.74E-01TNFAIP3 all R-ACVBP PFS 18 65 0.42 [0.09-1.98] 2.71E-01 7.56E-01TNFAIP3 all R-CHOP OS 17 99 2.52 [0.96-6.63] 6.02E-02 7.83E-01TNFAIP3 all R-CHOP PFS 17 99 1.95 [0.81-4.73] 1.38E-01 7.20E-01TNFAIP3 GC R-ACVBP OS 4 33 NA 4.96E-01 7.72E-01TNFAIP3 GC R-ACVBP PFS 4 33 NA 3.82E-01 8.30E-01TNFAIP3 GC R-CHOP OS 5 35 0.97 [0.12-7.68] 9.75E-01 9.75E-01TNFAIP3 GC R-CHOP PFS 5 35 0.75 [0.10-5.84] 7.84E-01 9.33E-01TNFAIP3 Other R-ACVBP OS 3 11 NA NA NATNFAIP3 Other R-ACVBP PFS 3 11 2.83 [0.17-47.15] 4.50E-01 8.30E-01TNFAIP3 Other R-CHOP OS 2 15 9.04 [2.82-28.98] NA NATNFAIP3 Other R-CHOP PFS 2 15 5.59 [1.91-16.39] NA NATNFAIP3 PMBL R-ACVBP OS 6 4 0.58 [0.04-9.30] 6.95E-01 8.64E-01TNFAIP3 PMBL R-ACVBP PFS 6 4 0.58 [0.04-9.30] 6.95E-01 9.07E-01TNFAIP3 PMBL R-CHOP OS 4 1 9.04 [2.82-28.98] NA NATNFAIP3 PMBL R-CHOP PFS 4 1 5.59 [1.91-16.39] NA NATNFRSF14 ABC R-ACVBP OS 0 22 NA NA NATNFRSF14 ABC R-ACVBP PFS 0 22 0.54 [0.06-4.59] NA NATNFRSF14 ABC R-CHOP OS 2 52 NA NA NA

TNFRSF14 ABC R-CHOP PFS 2 52 NA NA NATNFRSF14 all R-ACVBP OS 13 70 0.00 [0.00-Inf] 9.99E-01 9.99E-01TNFRSF14 all R-ACVBP PFS 13 70 0.50 [0.06-4.13] 5.17E-01 8.66E-01TNFRSF14 all R-CHOP OS 11 105 0.31 [0.04-2.32] 2.51E-01 9.74E-01TNFRSF14 all R-CHOP PFS 11 105 0.23 [0.03-1.78] 1.61E-01 7.20E-01TNFRSF14 GC R-ACVBP OS 10 27 NA 2.30E-01 7.72E-01TNFRSF14 GC R-ACVBP PFS 10 27 0.54 [0.06-4.59] 5.63E-01 8.97E-01TNFRSF14 GC R-CHOP OS 4 36 NA 3.17E-01 7.72E-01TNFRSF14 GC R-CHOP PFS 4 36 NA 2.55E-01 8.30E-01TNFRSF14 Other R-ACVBP OS 3 11 NA NA NATNFRSF14 Other R-ACVBP PFS 3 11 NA 7.39E-01 9.33E-01TNFRSF14 Other R-CHOP OS 5 12 NA 1.60E-01 7.72E-01TNFRSF14 Other R-CHOP PFS 5 12 NA 9.97E-02 8.30E-01TNFRSF14 PMBL R-ACVBP OS 0 10 NA NA NATNFRSF14 PMBL R-ACVBP PFS 0 10 0.54 [0.06-4.59] NA NATNFRSF14 PMBL R-CHOP OS 0 5 NA NA NATNFRSF14 PMBL R-CHOP PFS 0 5 NA NA NATP53 ABC R-ACVBP OS 4 18 NA 4.99E-01 7.72E-01TP53 ABC R-ACVBP PFS 4 18 2.44 [0.44-13.60] 2.95E-01 8.30E-01TP53 ABC R-CHOP OS 10 44 1.23 [0.49-3.05] 6.61E-01 8.45E-01TP53 ABC R-CHOP PFS 10 44 1.29 [0.52-3.20] 5.86E-01 8.97E-01TP53 all R-ACVBP OS 8 75 1.68 [0.19-14.88] 6.43E-01 9.99E-01TP53 all R-ACVBP PFS 8 75 3.23 [0.98-10.67] 5.42E-02 7.04E-01TP53 all R-CHOP OS 23 93 1.06 [0.50-2.24] 8.89E-01 9.99E-01TP53 all R-CHOP PFS 23 93 1.07 [0.53-2.18] 8.48E-01 9.98E-01TP53 GC R-ACVBP OS 2 35 1.68 [0.19-14.88] NA NATP53 GC R-ACVBP PFS 2 35 3.23 [0.98-10.67] NA NATP53 GC R-CHOP OS 11 29 0.51 [0.11-2.44] 3.93E-01 7.72E-01TP53 GC R-CHOP PFS 11 29 0.71 [0.19-2.66] 6.08E-01 9.06E-01TP53 Other R-ACVBP OS 1 13 NA NA NATP53 Other R-ACVBP PFS 1 13 2.44 [0.44-13.60] NA NATP53 Other R-CHOP OS 1 16 1.23 [0.49-3.05] NA NATP53 Other R-CHOP PFS 1 16 1.29 [0.52-3.20] NA NATP53 PMBL R-ACVBP OS 1 9 NA NA NATP53 PMBL R-ACVBP PFS 1 9 2.44 [0.44-13.60] NA NATP53 PMBL R-CHOP OS 1 4 1.23 [0.49-3.05] NA NATP53 PMBL R-CHOP PFS 1 4 1.29 [0.52-3.20] NA NAXPO1 ABC R-ACVBP OS 0 22 1.60 [0.14-18.48] NA NAXPO1 ABC R-ACVBP PFS 0 22 1.16 [0.12-10.96] NA NAXPO1 ABC R-CHOP OS 0 54 NA NA NAXPO1 ABC R-CHOP PFS 0 54 NA NA NAXPO1 all R-ACVBP OS 5 78 1.60 [0.14-18.48] 7.07E-01 9.99E-01XPO1 all R-ACVBP PFS 5 78 1.16 [0.12-10.96] 8.99E-01 9.98E-01XPO1 all R-CHOP OS 4 112 NA NA NAXPO1 all R-CHOP PFS 4 112 NA NA NAXPO1 GC R-ACVBP OS 1 36 1.60 [0.14-18.48] NA NAXPO1 GC R-ACVBP PFS 1 36 1.16 [0.12-10.96] NA NAXPO1 GC R-CHOP OS 0 40 NA NA NA

XPO1 GC R-CHOP PFS 0 40 NA NA NAXPO1 Other R-ACVBP OS 1 13 2.16 [0.13-34.61] NA NAXPO1 Other R-ACVBP PFS 1 13 2.16 [0.13-34.61] NA NAXPO1 Other R-CHOP OS 0 17 NA NA NAXPO1 Other R-CHOP PFS 0 17 NA NA NAXPO1 PMBL R-ACVBP OS 3 7 2.16 [0.13-34.61] 5.77E-01 7.72E-01XPO1 PMBL R-ACVBP PFS 3 7 2.16 [0.13-34.61] 5.77E-01 8.97E-01XPO1 PMBL R-CHOP OS 4 1 NA NA NAXPO1 PMBL R-CHOP PFS 4 1 NA NA NA

Table S7: Prognostic impact of mutations in Lymphopanel genes.All genes were tested for prognostic impact, either over all subtypes or by subtype. Only patients with Rituximab (R)-based treatment were included in survival analysis, and were separated into two cohorts: patients treated with R-CHOP and patients treated with R-ACVBP. NA is given as a result for p-value or FDR when there are fewer than five patients in either the WT or the mutated group.

clinical cancer research · web viewfigure s2: validation of variants according to sift and cadd...

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