Somatic mutations identified in a case of HHV8−/iMCD (case 3) and FDCSs arising from UCD
| Case . | Gene . | Position . | VAF, % . | Nucleotide change . | Type of mutation . | AA change . | CADD . | Pathway . |
|---|---|---|---|---|---|---|---|---|
| CD | ||||||||
| 3 | DNMT3A | Chr2:25470590 | 9 | T>A | Missense | L295Q | Unknown | DNA methylation |
| FDCSs | ||||||||
| 19 | IL17RD | Chr3:57135385 | 38 | T>C | Missense | I329T | 22.2 | FGFR pathway |
| 19 | NUDT4 | Chr12:93772182 | 38 | C>G | Missense | S28R | 13.7 | Intracellular trafficking |
| 19 | CABIN1 | Chr22:24479275 | 39 | A>G | Missense | Y898C | 19.25 | Chromatin structure, T-cell receptor mediated signaling |
| 20 | ZBTB7A | Chr19:4048233 | 14 | C>G | Missense | K424N | 17.6 | Oncogene; regulation of glycolysis |
| 20 | DRD5 | Chr4:9783892 | 40 | T>A | Missense | I80N | 19.7 | Dopamine; Other |
| 20 | TOP3B | Chr22:22311800 | 40 | C>T | Missense | E623K | 16.2 | Topoisomerase; DNA structure |
| 21 | STAT3 | Chr17:40490791 | 26 | C>T | Missense | D170N | 25 | Transcription |
| 21 | WDR55/DND1 | Chr5:140050940 | 15 | C>T | Missense | E334K | 12.6 | Oncogene; translational regulation |
| 21 | NCAPH | Chr2:97017707 | 20 | A>G | Missense | E287K | 13.2 | Chromatin structure |
| 21 | SETD2 | Chr3:47125583 | 24 | G>T | Missense | A1896E | 16.2 | Tumor suppressor; histone methyltransferase |
| 21 | MARCH7 | Chr2:160605297 | 20 | A>G | Missense | N443S | 16.3 | Ubiquitin ligase |
| Case . | Gene . | Position . | VAF, % . | Nucleotide change . | Type of mutation . | AA change . | CADD . | Pathway . |
|---|---|---|---|---|---|---|---|---|
| CD | ||||||||
| 3 | DNMT3A | Chr2:25470590 | 9 | T>A | Missense | L295Q | Unknown | DNA methylation |
| FDCSs | ||||||||
| 19 | IL17RD | Chr3:57135385 | 38 | T>C | Missense | I329T | 22.2 | FGFR pathway |
| 19 | NUDT4 | Chr12:93772182 | 38 | C>G | Missense | S28R | 13.7 | Intracellular trafficking |
| 19 | CABIN1 | Chr22:24479275 | 39 | A>G | Missense | Y898C | 19.25 | Chromatin structure, T-cell receptor mediated signaling |
| 20 | ZBTB7A | Chr19:4048233 | 14 | C>G | Missense | K424N | 17.6 | Oncogene; regulation of glycolysis |
| 20 | DRD5 | Chr4:9783892 | 40 | T>A | Missense | I80N | 19.7 | Dopamine; Other |
| 20 | TOP3B | Chr22:22311800 | 40 | C>T | Missense | E623K | 16.2 | Topoisomerase; DNA structure |
| 21 | STAT3 | Chr17:40490791 | 26 | C>T | Missense | D170N | 25 | Transcription |
| 21 | WDR55/DND1 | Chr5:140050940 | 15 | C>T | Missense | E334K | 12.6 | Oncogene; translational regulation |
| 21 | NCAPH | Chr2:97017707 | 20 | A>G | Missense | E287K | 13.2 | Chromatin structure |
| 21 | SETD2 | Chr3:47125583 | 24 | G>T | Missense | A1896E | 16.2 | Tumor suppressor; histone methyltransferase |
| 21 | MARCH7 | Chr2:160605297 | 20 | A>G | Missense | N443S | 16.3 | Ubiquitin ligase |
AA, amino acid; CADD, Combined Annotation Dependent Depletion; FGFR, fibroblast growth factor receptor.