Summary of the DNA variants and their percentages observed in refractory cases and responsive controls
| Variant no. . | Gene . | Protein . | GMAF . | Locus no. (hg38) . | Coding . | Transcript . | Incidence in the general population, % . | Refractory cases, % . | Responsive controls, % . | P value . |
|---|---|---|---|---|---|---|---|---|---|---|
| 1 | MAPK1 | P.L116L | 0.001 | chr22:21805996 | c.346T>C | NM_002745.5 | 0.001 | 37 | 3 | <.001 |
| 2 | RAF1 | - | 0.365 | chr3:12585017 | - | NM_014160.5 | 0 | 69 | 43 | .030 |
| 3 | GFI1 | p.C317W | 0.000 | chr1:92478727 | c.951T>G | NM_005263.5 | 0 | 34 | 9 | .009 |
| 4 | FCGR2A | p.P215P | 0.055 | chr1:161510859 | c.645A>G | NM_001136219.3 | 10 | 37 | 11 | .012 |
| 5 | FCGR2A | p.Q63∗ | 0.056 | chr1:161506414 | c.187C>T | NM_001136219.3 | 12-15 | 37 | 11 | .012 |
| 6 | ETV6 | p.T86T | 0.213 | chr12:11839234 | c.258G>A | NM_001987.5 | 15-22 | 34 | 14 | .048 |
| 7 | STAT5A | p.D634D | 0.241 | chr17:42307719 | c.1902C>T | NM_001288718.2 | 19-24 | 43 | 20 | .039 |
| 8 | MAPK3 | - | 0.008 | chr16:30116567 | - | NM_024307.3 | 3.5 | 20 | 0 | .005 |
| 9 | ABCA1 | p.I680I | 0.339 | chr9:104828991 | c.2040C>A | NM_005502.4 | 20-34 | 40 | 17 | .034 |
| 10 | ACD | p.P457P | 0.019 | chr16:67657612 | c.1371G>T | NM_001082486.2 | 3.5 | 29 | 9 | .031 |
| 11 | THPO | - | 0.062 | chr3:184372454 | c.∗59G>A | NM_000460.4 | 0 | 23 | 6 | .040 |
| 12 | ACTN1 | p.T890S | 0.006 | chr14:68874936 | c.2668A>T | NM_001130004.2 | 1 | 17 | 3 | .046 |
| 13 | SHC1 | p.M410V | 0.061 | chr1:154966186 | c.1228A>G | NM_001130040.2 | 4 | 17 | 3 | .046 |
| Variant no. . | Gene . | Protein . | GMAF . | Locus no. (hg38) . | Coding . | Transcript . | Incidence in the general population, % . | Refractory cases, % . | Responsive controls, % . | P value . |
|---|---|---|---|---|---|---|---|---|---|---|
| 1 | MAPK1 | P.L116L | 0.001 | chr22:21805996 | c.346T>C | NM_002745.5 | 0.001 | 37 | 3 | <.001 |
| 2 | RAF1 | - | 0.365 | chr3:12585017 | - | NM_014160.5 | 0 | 69 | 43 | .030 |
| 3 | GFI1 | p.C317W | 0.000 | chr1:92478727 | c.951T>G | NM_005263.5 | 0 | 34 | 9 | .009 |
| 4 | FCGR2A | p.P215P | 0.055 | chr1:161510859 | c.645A>G | NM_001136219.3 | 10 | 37 | 11 | .012 |
| 5 | FCGR2A | p.Q63∗ | 0.056 | chr1:161506414 | c.187C>T | NM_001136219.3 | 12-15 | 37 | 11 | .012 |
| 6 | ETV6 | p.T86T | 0.213 | chr12:11839234 | c.258G>A | NM_001987.5 | 15-22 | 34 | 14 | .048 |
| 7 | STAT5A | p.D634D | 0.241 | chr17:42307719 | c.1902C>T | NM_001288718.2 | 19-24 | 43 | 20 | .039 |
| 8 | MAPK3 | - | 0.008 | chr16:30116567 | - | NM_024307.3 | 3.5 | 20 | 0 | .005 |
| 9 | ABCA1 | p.I680I | 0.339 | chr9:104828991 | c.2040C>A | NM_005502.4 | 20-34 | 40 | 17 | .034 |
| 10 | ACD | p.P457P | 0.019 | chr16:67657612 | c.1371G>T | NM_001082486.2 | 3.5 | 29 | 9 | .031 |
| 11 | THPO | - | 0.062 | chr3:184372454 | c.∗59G>A | NM_000460.4 | 0 | 23 | 6 | .040 |
| 12 | ACTN1 | p.T890S | 0.006 | chr14:68874936 | c.2668A>T | NM_001130004.2 | 1 | 17 | 3 | .046 |
| 13 | SHC1 | p.M410V | 0.061 | chr1:154966186 | c.1228A>G | NM_001130040.2 | 4 | 17 | 3 | .046 |
GMAF, global minor allele frequency; hg38, human genome build 38.