Switch to unified view

a b/resources/curated/Readme.md
1
# Curated lymphoma gene lists
2
3
# What these files are and what they are not
4
5
These lists are meant to be comprehensive lists of genes that are (reportedly) enriched for non-silent or other driver mutations in one or more B-cell lymphomas. As a result, contain many genes that are likely not relevant to these malignancies and some genes may be missing if they are only affected by aberrant somatic hypermutation (aSHM) but not demonstrated to be _bona fide_ drivers. Comprehensive lists of regions affected by aSHM are provided separately but are not considered gene lists per-se because they are not all within genes. The completeness of these lists is a blessing and a curse. Be sure to filter the lists based on how stringent you would like to be. Most people will be interested in just the core lists.
6
7
## The lists
8
9
### DLBCL, FL and BL combined list
10
11
|Gene|DLBCL Tier|FL Tier|BL Tier|
12
|:-:|:-:|:-:|:-:|
13
|ARID1A|1|1|1|
14
|BCL6|1|1|1|
15
|BCL7A|1|1|1|
16
|CCND3|1|1|1|
17
|CREBBP|1|1|1|
18
|EZH2|1|1|1|
19
|FOXO1|1|1|1|
20
|GNA13|1|1|1|
21
|GNAI2|1|1|1|
22
|HIST1H1E|1|1|1|
23
|IGLL5|1|1|1|
24
|KMT2D|1|1|1|
25
|MYC|1|1|1|
26
|SMARCA4|1|1|1|
27
|TP53|1|1|1|
28
|B2M|1|1|2|
29
|BCL2|1|1|2|
30
|CARD11|1|1|2|
31
|CD83|1|1|2|
32
|EBF1|1|1|2|
33
|HIST1H1B|1|1|2|
34
|IRF8|1|1|2|
35
|PIM1|1|1|2|
36
|TBL1XR1|1|1|2|
37
|TNFRSF14|1|1|2|
38
|HIST1H1C|1|1|3|
39
|HIST1H2AM|1|1|3|
40
|ACTB|1|1||
41
|BCL10|1|1||
42
|BTK|1|1||
43
|EEF1A1|1|1||
44
|EP300|1|1||
45
|FAS|1|1||
46
|HIST1H1D|1|1||
47
|HIST1H2AC|1|1||
48
|HIST1H2BC|1|1||
49
|HVCN1|1|1||
50
|KLHL6|1|1||
51
|MEF2B|1|1||
52
|POU2AF1|1|1||
53
|POU2F2|1|1||
54
|RRAGC|1|1||
55
|SGK1|1|1||
56
|SOCS1|1|1||
57
|STAT6|1|1||
58
|TMSB4X|1|1||
59
|TNFAIP3|1|1||
60
|DDX3X|1|2|1|
61
|P2RY8|1|2|1|
62
|RHOA|1|2|1|
63
|BTG1|1|2|2|
64
|CXCR4|1|2|2|
65
|S1PR2|1|2|2|
66
|BTG2|1|2|3|
67
|CD79B|1|2|3|
68
|ACTG1|1|2||
69
|CD70|1|2||
70
|DUSP2|1|2||
71
|IRF4|1|2||
72
|ITPKB|1|2||
73
|KLF2|1|2||
74
|LTB|1|2||
75
|MEF2C|1|2||
76
|MYD88|1|2||
77
|NFKBIA|1|2||
78
|TMEM30A|1|2||
79
|ZNF608|1|2||
80
|FBXO11|1||1|
81
|HNRNPU|1||1|
82
|PTEN|1||1|
83
|RFX7|1||1|
84
|SIN3A|1||1|
85
|CDKN2A|1||2|
86
|IKZF3|1||2|
87
|KMT2C|1||2|
88
|PRDM1|1||2|
89
|TET2|1||2|
90
|ZFP36L1|1||2|
91
|BRAF|1||3|
92
|DTX1|1||3|
93
|ETS1|1||3|
94
|HIST1H2BK|1||3|
95
|MTOR|1||3|
96
|NOTCH1|1||3|
97
|SF3B1|1||3|
98
|ATM|1|||
99
|BIRC6|1|||
100
|CD58|1|||
101
|CIITA|1|||
102
|ETV6|1|||
103
|FBXW7|1|||
104
|GRB2|1|||
105
|GRHPR|1|||
106
|HIST1H3B|1|||
107
|HIST2H2BE|1|||
108
|HLA-A|1|||
109
|HLA-B|1|||
110
|HLA-C|1|||
111
|HLA-DMB|1|||
112
|IL4R|1|||
113
|JUNB|1|||
114
|KLHL14|1|||
115
|KRAS|1|||
116
|LCOR|1|||
117
|LRRN3|1|||
118
|MGA|1|||
119
|MPEG1|1|||
120
|MS4A1|1|||
121
|NFKBIE|1|||
122
|NFKBIZ|1|||
123
|NOL9|1|||
124
|NOTCH2|1|||
125
|OSBPL10|1|||
126
|PIM2|1|||
127
|PTPN6|1|||
128
|RB1|1|||
129
|SETD1B|1|||
130
|SPEN|1|||
131
|STAT3|1|||
132
|TAF1|1|||
133
|TOX|1|||
134
|UBE2A|1|||
135
|WEE1|1|||
136
|XPO1|1|||
137
|ZC3H12A|1|||
138
|ZNF292|1|||
139
|HIST1H2AG|2|1|3|
140
|MAP2K1|2|1||
141
|ID3|2||1|
142
|TCL1A|2||1|
143
|USP7|2||1|
144
|WNK1|2||1|
145
|PHF6|3||1|
146
|ATP6AP1||1||
147
|ATP6V1B2||1||
148
|CTSS||1||
149
|HIST1H2BG||1||
150
|VMA21||1||
151
|BACH2|||1|
152
|BMP7|||1|
153
|CHD8|||1|
154
|PCBP1|||1|
155
|TCF3|||1|
156
|TFAP4|||1|
157
158
### DLBCL
159
160
The master curated gene list for DLBCL including all genes nominated by any exome/genome-wide study can be found in this directory in `dlbcl_genes.tsv` or [here](dlbcl_genes.tsv). Most of the columns in this file are self-explanatory. The second column (Tier) refers to our confidence in the gene. Each gene is assigned to one of three based on the extent of data supporting its role in that entity, with Tier 1 and Tier 2 respectively representing the high- and moderate-confidence genes. Genes of particularly low confidence can also be assigned to a third tier, though not all lists contain Tier 3 genes. The citekey and PMID columns respectively refer to the BibTex citekey and PubMed ID of the first study that nominated that gene as a significantly mutated gene in DLBCL. 
161
The core gene list at the time this document was prepared is shown below. _This may not match the actual file, depending on whether this document is kept up to date. Please refer to [this file](dlbcl_genes.tsv) rather than the table you see below._ 
162
163
164
165
|Gene|Tier|aSHM|QC|Mean variant quality|citekey|PMID|MutationEffect|Mutation-PMID|MutationEffect-citekey|LymphGen|
166
|:-:|:-:|:-:|:-:|:-:|:-:|:-:|:-:|:-:|:-:|:-:|
167
|ACTB|1|TRUE|NA||lohrDiscoveryPrioritizationSomatic2012|22343534||||TRUE
168
|ACTG1|1|TRUE|NA||fanComprehensiveCharacterizationDriver2020|32565964||||FALSE
169
|ARID1A|1|FALSE|NA||zhangGeneticHeterogeneityDiffuse2013|23292937|LOF|38458187|barisicARID1AOrchestratesSWI2024|TRUE
170
|ATM|1|FALSE|NA||reddyGeneticFunctionalDrivers2017|28985567|LOF|11756177|camachoATMGeneInactivation2002|FALSE
171
|B2M|1|FALSE|NA||morinFrequentMutationHistonemodifying2011|21796119|LOF|22137796|challa-malladiCombinedGeneticInactivation2011|FALSE
172
|BCL10|1|FALSE|NA||morinFrequentMutationHistonemodifying2011|21796119|GOF|35658124|xiaBCL10MutationsDefine2022|TRUE
173
|BCL2|1|TRUE|NA||tanakaFrequentIncidenceSomatic1992|1339299||||TRUE
174
|BCL6|1|TRUE|NA||morinFrequentMutationHistonemodifying2011|21796119|LOF|12504096|masclePointMutationsBCL62003|TRUE
175
|BCL7A|1|TRUE|NA||morinFrequentMutationHistonemodifying2011|21796119|LOF|32576963|balinas-gaviraFrequentMutationsAminoterminal2020|FALSE
176
|BIRC6|1|FALSE|NA||reddyGeneticFunctionalDrivers2017|28985567||||FALSE
177
|BRAF|1|FALSE|NA||tiacciBRAFMutationsHairycell2011|22343534|LOF|15035987|wanMechanismActivationRAFERK2004|FALSE
178
|BTG1|1|TRUE|NA||morinFrequentMutationHistonemodifying2011|21796119|LOF|33021411|almasmoumFrequentLossBTG12021|TRUE
179
|BTG2|1|TRUE|NA||morinFrequentMutationHistonemodifying2011|21796119||||TRUE
180
|BTK|1|FALSE|NA||albuquerqueEnhancingKnowledgeDiscovery2017|28327945|LOF|33419778|huFollicularLymphomaassociatedBTK2021|FALSE
181
|CARD11|1|FALSE|NA||lenzOncogenicCARD11Mutations2008|18323416|GOF|18323416|lenzOncogenicCARD11Mutations2008|FALSE
182
|CCND3|1|FALSE|NA||morinFrequentMutationHistonemodifying2011|21796119|GOF|22885699|schmitzBurkittLymphomaPathogenesis2012|FALSE
183
|CD58|1|FALSE|NA||morinFrequentMutationHistonemodifying2011|21796119|LOF|22137796|challa-malladiCombinedGeneticInactivation2011|TRUE
184
|CD70|1|FALSE|NA||morinFrequentMutationHistonemodifying2011|21796119|LOF|36471481|nieDualRoleCD702022|TRUE
185
|CD79B|1|FALSE|NA||davisChronicActiveBcellreceptor2010|20054396|GOF|20054396|davisChronicActiveBcellreceptor2010|TRUE
186
|CD83|1|TRUE|NA||morinMutationalStructuralAnalysis2013|23699601||||TRUE
187
|CDKN2A|1|FALSE|NA||morinMutationalStructuralAnalysis2013|23699601|LOF|19260062|kannengiesserFunctionalStructuralGenetic2009|TRUE
188
|CIITA|1|TRUE|NA||morinFrequentMutationHistonemodifying2011|21796119|LOF|26549456|mottokGenomicAlterationsCIITA2015|TRUE
189
|CREBBP|1|FALSE|NA||pasqualucciInactivatingMutationsAcetyltransferase2011|21390126|LOF|21390126|pasqualucciInactivatingMutationsAcetyltransferase2011|TRUE
190
|CXCR4|1|TRUE|NA||khodabakhshiRecurrentTargetsAberrant2012|23131835|LOF|36089616|zmajkovicovaGenotypephenotypeCorrelationsWHIM2022|FALSE
191
|DDX3X|1|FALSE|NA||reddyGeneticFunctionalDrivers2017|28985567|LOF|34437837|gongSequentialInverseDysregulation2021|TRUE
192
|DTX1|1|TRUE|NA||zhangGeneticHeterogeneityDiffuse2013|23292937||||TRUE
193
|DUSP2|1|TRUE|NA||lohrDiscoveryPrioritizationSomatic2012|22343534||||TRUE
194
|EBF1|1|TRUE|NA||bohleRoleEarlyBcell2013|23174882|LOF|28692033|ramirez-komoSpontaneousLossLineage2017|FALSE
195
|EEF1A1|1|FALSE|NA||chapuyMolecularSubtypesDiffuse2018|29713087||||FALSE
196
|EP300|1|FALSE|NA||pasqualucciInactivatingMutationsAcetyltransferase2011|21390126|LOF|21390126|pasqualucciInactivatingMutationsAcetyltransferase2011|TRUE
197
|ETS1|1|TRUE|NA||morinFrequentMutationHistonemodifying2011|21796119||||TRUE
198
|ETV6|1|TRUE|NA||lohrDiscoveryPrioritizationSomatic2012|22343534|LOF|24997145|wangETV6MutationCohort2014|TRUE
199
|EZH2|1|FALSE|NA||morinSomaticMutationsAltering2010|20081860|GOF|21078963|sneeringerCoordinatedActivitiesWildtype2010|TRUE
200
|FAS|1|FALSE|NA||schollMutationsRegionFAS2007|17487740|LOF|20935634|wangFasFADDDeathDomain2010|FALSE
201
|FBXO11|1|FALSE|NA||arthurGenomewideDiscoverySomatic2018|30275490|LOF|22113614|duanFBXO11TargetsBCL62011|FALSE
202
|FBXW7|1|FALSE|NA||zhangGeneticHeterogeneityDiffuse2013|23292937|LOF|32350066|saffieFBXW7TriggersDegradation2020|FALSE
203
|FOXO1|1|FALSE|NA||morinFrequentMutationHistonemodifying2011|21796119|GOF|23460611|trinhAnalysisFOXO1Mutations|FALSE
204
|GNA13|1|FALSE|NA||morinFrequentMutationHistonemodifying2011|21796119|LOF|25274307|muppidiLossSignalingGa132014|FALSE
205
|GNAI2|1|FALSE|NA||morinMutationalStructuralAnalysis2013|23699601|GOF|25274307|muppidiLossSignalingGa132014|FALSE
206
|GRB2|1|FALSE|NA||pasqualucciAnalysisCodingGenome2011|21804550||||FALSE
207
|GRHPR|1|TRUE|NA||schmitzGeneticsPathogenesisDiffuse2018|29641966||||TRUE
208
|HIST1H1B|1|TRUE|NA||chapuyMolecularSubtypesDiffuse2018|29713087||||FALSE
209
|HIST1H1C|1|TRUE|NA||morinFrequentMutationHistonemodifying2011|21796119||||FALSE
210
|HIST1H1D|1|TRUE|NA||morinMutationalStructuralAnalysis2013|23699601||||FALSE
211
|HIST1H1E|1|TRUE|NA||lohrDiscoveryPrioritizationSomatic2012|22343534||||FALSE
212
|HIST1H2AC|1|TRUE|NA||morinMutationalStructuralAnalysis2013|23699601||||FALSE
213
|HIST1H2AM|1|TRUE|NA||chapuyMolecularSubtypesDiffuse2018|29713087||||FALSE
214
|HIST1H2BC|1|TRUE|NA||lohrDiscoveryPrioritizationSomatic2012|22343534||||FALSE
215
|HIST1H2BK|1|TRUE|NA||zhangGeneticHeterogeneityDiffuse2013|23292937||||FALSE
216
|HIST1H3B|1|TRUE|NA||lohrDiscoveryPrioritizationSomatic2012|22343534||||FALSE
217
|HIST2H2BE|1|TRUE|NA||chapuyMolecularSubtypesDiffuse2018|29713087||||FALSE
218
|HLA-A|1|FALSE|NA||lohrDiscoveryPrioritizationSomatic2012|22343534|LOF|34050029|fangazioGeneticMechanismsHLAI2021|TRUE
219
|HLA-B|1|FALSE|NA||lohrDiscoveryPrioritizationSomatic2012|22343534|LOF|34050029|fangazioGeneticMechanismsHLAI2021|TRUE
220
|HLA-C|1|FALSE|NA||chapuyMolecularSubtypesDiffuse2018|29713087|LOF|34050029|fangazioGeneticMechanismsHLAI2021|FALSE
221
|HLA-DMB|1|FALSE|NA||hubschmannMutationalMechanismsShaping2021|33953289||||FALSE
222
|HNRNPU|1|FALSE|NA||reddyGeneticFunctionalDrivers2017|28985567||||FALSE
223
|HVCN1|1|FALSE|NA||chapuyMolecularSubtypesDiffuse2018|29713087||||FALSE
224
|IKZF3|1|FALSE|NA||morinFrequentMutationHistonemodifying2011|21796119|GOF|33689703|lazarianHotspotMutationTranscription2021|FALSE
225
|IL4R|1|TRUE|NA||dunsCharacterizationDLBCLPMBL2021|33684939|GOF|29467182|viganoSomaticIL4RMutations2018|FALSE
226
|IRF4|1|TRUE|NA||morinFrequentMutationHistonemodifying2011|21796119||||TRUE
227
|IRF8|1|TRUE|NA||morinFrequentMutationHistonemodifying2011|21796119|LOF|38996030|qiuIRF8mutantCellLymphoma2024|TRUE
228
|ITPKB|1|TRUE|NA||schmitzGeneticsPathogenesisDiffuse2018|29641966|LOF|29650799|tiacciPervasiveMutationsJAKSTAT2018|TRUE
229
|JUNB|1|FALSE|PASS|3|lohrDiscoveryPrioritizationSomatic2012|22343534||||TRUE
230
|KLF2|1|TRUE|NA||pasqualucciAnalysisCodingGenome2011|21804550||||TRUE
231
|KLHL14|1|FALSE|NA||zhangGeneticHeterogeneityDiffuse2013|23292937|LOF|32127472|choiRegulationCellReceptordependent2020|TRUE
232
|KLHL6|1|TRUE|NA||morinFrequentMutationHistonemodifying2011|21796119|LOF|29695787|choiLossKLHL6Promotes2018|FALSE
233
|KMT2C|1|FALSE|NA||zhangGeneticHeterogeneityDiffuse2013|23292937||||FALSE
234
|KMT2D|1|FALSE|NA||morinFrequentMutationHistonemodifying2011|21796119|LOF|26366712|zhangDisruptionKMT2DPerturbs2015|TRUE
235
|KRAS|1|FALSE|NA||lohrDiscoveryPrioritizationSomatic2012|22343534|GOF|9219684|scheffzekRasRasGAPComplexStructural1997|FALSE
236
|LRRN3|1|FALSE|NA||zhangGeneticHeterogeneityDiffuse2013|23292937||||FALSE
237
|LTB|1|TRUE|NA||chapuyMolecularSubtypesDiffuse2018|29713087||||FALSE
238
|MEF2B|1|TRUE|NA||morinFrequentMutationHistonemodifying2011|21796119|NEO|23974956; 26245647|ponMEF2BMutationsNonHodgkin2015|TRUE
239
|MEF2C|1|TRUE|NA||hubschmannMutationalMechanismsShaping2021|33953289||||FALSE
240
|MGA|1|FALSE|NA||reddyGeneticFunctionalDrivers2017|28985567|LOF|23039309|depaoliMGASuppressorMYC2013|FALSE
241
|MIR142|1|TRUE|NA||kwanhianMicroRNA142Mutated202012|23342264|LOF|29724719|trissalMIR142LossofFunctionMutations2018|FALSE
242
|MPEG1|1|FALSE|NA||morinMutationalStructuralAnalysis2013|23699601||||TRUE
243
|MS4A1|1|TRUE|NA||rushtonGeneticEvolutionaryPatterns2020|32589730|LOF|32589730|rushtonGeneticEvolutionaryPatterns2020|FALSE
244
|MTOR|1|FALSE|NA||zhangGeneticHeterogeneityDiffuse2013|23292937|GOF|24631838|grabinerDiverseArrayCancerassociated2014|FALSE
245
|MYC|1|TRUE|NA||pasqualucciHypermutationMultipleProtooncogenes2001|11460166|GOF|38565249|freieGermlinePointMutation2024|FALSE
246
|MYD88|1|FALSE|NA||ngoOncogenicallyActiveMYD882011|21179087|GOF|21179087|ngoOncogenicallyActiveMYD882011|TRUE
247
|NFKBIA|1|FALSE|NA||thomasMutationalAnalysisIkappaBalpha2004|15198731|LOF|10637284|jungnickelClonalDeleteriousMutations2000|TRUE
248
|NFKBIE|1|FALSE|NA||morinGeneticLandscapesRelapsed2016|26647218|LOF|25987724|mansouriFunctionalLossIkBe2015|FALSE
249
|NFKBIZ|1|TRUE|NA||morinGeneticLandscapesRelapsed2016|26647218|GOF|302754900|arthurGenomewideDiscoverySomatic2018|FALSE
250
|NOL9|1|FALSE|NA||schmitzGeneticsPathogenesisDiffuse2018|29641966||||TRUE
251
|NOTCH1|1|FALSE|NA||pasqualucciAnalysisCodingGenome2011|21804550|GOF|29045844|ryanCellRegulomeLinks2017|TRUE
252
|NOTCH2|1|FALSE|NA||zhangGeneticHeterogeneityDiffuse2013|23292937|GOF|19445024|leeGainoffunctionMutationsCopy2009|TRUE
253
|OSBPL10|1|TRUE|NA||zhangGeneticHeterogeneityDiffuse2013|23292937||||TRUE
254
|P2RY8|1|FALSE|NA||lohrDiscoveryPrioritizationSomatic2012|22343534|LOF|25274307|muppidiLossSignalingGa132014|FALSE
255
|PIM1|1|TRUE|NA||pasqualucciHypermutationMultipleProtooncogenes2001|11460166|GOF|27904766|kuoRolePIM1Ibrutinibresistant2016|TRUE
256
|PIM2|1|TRUE|NA||reddyGeneticFunctionalDrivers2017|28985567||||TRUE
257
|POU2AF1|1|TRUE|NA||chapuyMolecularSubtypesDiffuse2018|29713087|LOF|30802265|gonzalez-rinconUnravelingTransformationFollicular2019|FALSE
258
|POU2F2|1|FALSE|NA||lohrDiscoveryPrioritizationSomatic2012|22343534|LOF|26993806|hodsonRegulationNormalBcell2016|FALSE
259
|PRDM1|1|FALSE|NA||pasqualucciInactivationPRDM1BLIMP12006|NA|LOF|16492805|pasqualucciInactivationPRDM1BLIMP12006|TRUE
260
|PTEN|1|FALSE|NA||reddyGeneticFunctionalDrivers2017|28985567|LOF|23840064|pfeiferPTENLossDefines2013|FALSE
261
|PTPN6|1|FALSE|PASS|3|reddyGeneticFunctionalDrivers2017|28985567|LOF|26565811|demosthenousLossFunctionMutations2015|FALSE
262
|RB1|1|FALSE|NA||morinMutationalStructuralAnalysis2013|23699601|LOF|17332242|pinyolInactivationRB1Mantlecell2007|FALSE
263
|RFX7|1|FALSE|NA||arthurGenomewideDiscoverySomatic2018|30275490|LOF|30926791|weberPiggyBacTransposonTools2019|FALSE
264
|RHOA|1|FALSE|NA||zhangGeneticHeterogeneityDiffuse2013|23292937|LOF|26616858|ohayreInactivatingMutationsGNA132016|FALSE
265
|RRAGC|1|FALSE|NA||okosunRecurrentMTORC1activatingRRAGC2016|26691987|GOF|26691987|okosunRecurrentMTORC1activatingRRAGC2016|FALSE
266
|S1PR2|1|TRUE|NA||morinFrequentMutationHistonemodifying2011|21796119|LOF|25274307|muppidiLossSignalingGa132014|TRUE
267
|SETD1B|1|FALSE|NA||albuquerqueEnhancingKnowledgeDiscovery2017|28327945|LOF|TBD||TRUE
268
|SF3B1|1|FALSE|NA||reddyGeneticFunctionalDrivers2017|28985567|NEO|23160465|cazzolaBiologicClinicalSignificance2013|FALSE
269
|SGK1|1|TRUE|NA||morinFrequentMutationHistonemodifying2011|21796119|GOF|33988691|gaoSGK1MutationsDLBCL2021|TRUE
270
|SIN3A|1|FALSE|NA||chapuyMolecularSubtypesDiffuse2018|29713087||||FALSE
271
|SMARCA4|1|FALSE|NA||reddyGeneticFunctionalDrivers2017|28985567|LOF|33144586|fernandoFunctionalCharacterizationSMARCA42020|FALSE
272
|SOCS1|1|TRUE|NA||morinFrequentMutationHistonemodifying2011|21796119|LOF|15572583|melznerBiallelicMutationSOCS12005|TRUE
273
|SPEN|1|FALSE|NA||albuquerqueEnhancingKnowledgeDiscovery2017|28327945||||TRUE
274
|STAT3|1|FALSE|NA||morinFrequentMutationHistonemodifying2011|21796119|GOF|23861822|huNovelMissenseM206K2013|TRUE
275
|STAT6|1|FALSE|NA||yildizActivatingSTAT6Mutations2015|25428220|GOF|35851155|mentzPARP14NovelTarget2022|TRUE
276
|TAF1|1|FALSE|NA||morinMutationalStructuralAnalysis2013|23699601||||FALSE
277
|TBL1XR1|1|FALSE|NA||lohrDiscoveryPrioritizationSomatic2012|22343534|LOF|32619424|venturuttiTBL1XR1MutationsDrive2020|TRUE
278
|TET2|1|FALSE|NA||albuquerqueEnhancingKnowledgeDiscovery2017|28327945|LOF|23831920|asmarGenomewideProfilingIdentifies2013|TRUE
279
|TMEM30A|1|FALSE|NA||morinFrequentMutationHistonemodifying2011|21796119|LOF|32094924|ennishiTMEM30ALossoffunctionMutations2020|TRUE
280
|TMSB4X|1|TRUE|NA||reddyGeneticFunctionalDrivers2017|28985567||||FALSE
281
|TNFAIP3|1|FALSE|NA||compagnoMutationsMultipleGenes2009|19412164|LOF|19412164|compagnoMutationsMultipleGenes2009|TRUE
282
|TNFRSF14|1|FALSE|NA||morinFrequentMutationHistonemodifying2011|21796119|LOF|TBD||TRUE
283
|TOX|1|FALSE|NA||reddyGeneticFunctionalDrivers2017|28985567||||TRUE
284
|TP53|1|FALSE|NA||morinFrequentMutationHistonemodifying2011|21796119|LOF|12826609|katoUnderstandingFunctionstructureFunctionmutation2003|TRUE
285
|UBE2A|1|FALSE|NA||lohrDiscoveryPrioritizationSomatic2012|22343534||||TRUE
286
|WEE1|1|FALSE|NA||schmitzGeneticsPathogenesisDiffuse2018|29641966||||TRUE
287
|XPO1|1|FALSE|NA||mareschalWholeExomeSequencing2016|26608593|NEO|33007990|miloudiXPO1E571KMutationModifies2020|FALSE
288
|ZC3H12A|1|FALSE|NA||chapuyMolecularSubtypesDiffuse2018|29713087|LOF|19747262|skalniakRegulatoryFeedbackLoop2009|FALSE
289
|ZFP36L1|1|TRUE|NA||morinFrequentMutationHistonemodifying2011|21796119||||TRUE
290
|ZNF292|1|FALSE|NA||reddyGeneticFunctionalDrivers2017|28985567||||FALSE
291
|ZNF608|1|FALSE|NA||morinMutationalStructuralAnalysis2013|23699601||||FALSE
292
|LCOR|1|FALSE|NA||novakWholeexomeAnalysisReveals2015|26314988||||FALSE
293
294
### Burkitt lymphoma
295
296
The master curated list for BL including DLBCL genes that have been scrutinized within BL is can be found in `bl_genes.tsv` (or [here](bl_genes.tsv)). 
297
298
### Follicular lymphoma
299
300
The master curated list for FL including DLBCL genes that have been scrutinized within BL is can be found in `fl_genes.tsv` (or [here](fl_genes.tsv)).
301
302
### aSHM regions
303
304
We provide two (somewhat redundant) files that each represent the coordinates of genomic regions we have identified as being targets of aberrant somatic hypermutation (aSHM) from our analysis of DLBCL genomes. Use the bed file if you need that format, otherwise refer to the txt file for more complete details about the regions. _Contributors willing to help fill in regions you think need to be added to this list are encouraged to submit a GitHub issue and we'll review the data we have to determine if this is warranted._ 
305
306
The following three files are semi-redundant representations of the same information. This is the coordinates for regions of the genome commonly affected by aSHM in DLBCL. [This version](somatic_hypermutation_locations_with_DLBCL_frequencies.tsv) includes additional columns tracking the number and percentage of DLBCL genomes with mutations in each region based on our meta-analysis. 
307
308
`somatic_hypermutation_locations_GRCh37.txt`
309
310
`somatic_hypermutation_locations_with_DLBCL_frequencies.tsv`
311
312
`somatic_hypermutation_locations_GRCh37.bed`
313
314
## How to contribute
315
316
These lists may be incomplete and may contain errors. If you believe a gene is missing, is mis-attributed, etc please let us know. _Contributors willing to help fill in missing data (genes, citations, hot spots) are encouraged to submit a GitHub issue._ 
317
318
## How to cite
319
320
If you use the information in these lists please cite the following papers:
321
322
### DLBCL gene list
323
324
Minimum Information for Reporting a Genomics Experiment. Dreval K, Boutros PC, Morin RD.
325
Blood. 2022 Oct 11:blood.2022016095. doi: 10.1182/blood.2022016095. PMID: 36219881
326
327
### BL gene list
328
329
GENETIC SUBGROUPS INFORM ON PATHOBIOLOGY IN ADULT AND PEDIATRIC BURKITT LYMPHOMA. Thomas N, Dreval K et al. Blood. 2022 Oct 6:blood.2022016534. doi: 10.1182/blood.2022016534. PMID: 36201743
330
331
### SHM regions
332
333
Genome-wide discovery of somatic regulatory variants in diffuse large B-cell lymphoma. Arthur et al. Nat Commun. 2018 Oct 1;9(1):4001. doi: 10.1038/s41467-018-06354-3.
334
335
Super-enhancer hypermutation alters oncogene expression in B cell lymphoma. Bal E et al. Nature. 2022 Jul;607(7920):808-815. doi: 10.1038/s41586-022-04906-8. Epub 2022 Jul 6.