Summary of data after targeted resequencing
| Tissue . | No. of patients sequenced . | Mutations . | Average VAF . | Average coverage . | ||||||
|---|---|---|---|---|---|---|---|---|---|---|
| Type . | No. . | No. in tissues/all . | % . | Per patient . | % . | SD . | Depth . | SD . | ||
| Skin | 16 | All | 119/245 | 48.6 | 7.4 | 3.0 | 3.3 | 645.56 | 594.03 | |
| False positive* | 77 | 8 | 0.5 | 2.8 | 3.1 | 412.63 | 297.69 | |||
| False negative† | 55 | 51 | 3.2 | 4.3 | 2.2 | 739.33 | 595.53 | |||
| Hair follicle | 16 | All | 191/245 | 78.0 | 11.9 | 1.5 | 3.2 | 379.61 | 383.76 | |
| False positive* | 77 | 29 | 1.8 | 2.3 | 2.3 | 244.90 | 138.07 | |||
| False negative† | 55 | 1 | 0.06 | 3.5 | NA | 108.00 | NA | |||
| T cells | 16 | All | 197/245 | 80.4 | 12.3 | 1.5 | 2.7 | 371.88 | 305.49 | |
| False positive* | 77 | 37 | 2.3 | 1.50 | 2.3 | 305.51 | 325.23 | |||
| False negative† | 55 | 1 | 0.06 | 8.0 | NA | 25.00 | NA | |||
| Buccal swab‡ | 11 | All | 114/159 | 71.7 | 10.4 | 1.5 | 3.2 | 777.01 | 478.86 | |
| False positive* | 77 | 3 | 0.3 | 2.8 | 1.3 | 713.67 | 506.42 | |||
| False negative† | 55 | 2 | 0.2 | 3.0 | 0.2 | 228.50 | 222.74 | |||
| BM | 16 | 245 | 15.3 | 22.1 | 15.4 | 772.38 | 495.00 | |||
| Tissue . | No. of patients sequenced . | Mutations . | Average VAF . | Average coverage . | ||||||
|---|---|---|---|---|---|---|---|---|---|---|
| Type . | No. . | No. in tissues/all . | % . | Per patient . | % . | SD . | Depth . | SD . | ||
| Skin | 16 | All | 119/245 | 48.6 | 7.4 | 3.0 | 3.3 | 645.56 | 594.03 | |
| False positive* | 77 | 8 | 0.5 | 2.8 | 3.1 | 412.63 | 297.69 | |||
| False negative† | 55 | 51 | 3.2 | 4.3 | 2.2 | 739.33 | 595.53 | |||
| Hair follicle | 16 | All | 191/245 | 78.0 | 11.9 | 1.5 | 3.2 | 379.61 | 383.76 | |
| False positive* | 77 | 29 | 1.8 | 2.3 | 2.3 | 244.90 | 138.07 | |||
| False negative† | 55 | 1 | 0.06 | 3.5 | NA | 108.00 | NA | |||
| T cells | 16 | All | 197/245 | 80.4 | 12.3 | 1.5 | 2.7 | 371.88 | 305.49 | |
| False positive* | 77 | 37 | 2.3 | 1.50 | 2.3 | 305.51 | 325.23 | |||
| False negative† | 55 | 1 | 0.06 | 8.0 | NA | 25.00 | NA | |||
| Buccal swab‡ | 11 | All | 114/159 | 71.7 | 10.4 | 1.5 | 3.2 | 777.01 | 478.86 | |
| False positive* | 77 | 3 | 0.3 | 2.8 | 1.3 | 713.67 | 506.42 | |||
| False negative† | 55 | 2 | 0.2 | 3.0 | 0.2 | 228.50 | 222.74 | |||
| BM | 16 | 245 | 15.3 | 22.1 | 15.4 | 772.38 | 495.00 | |||
Overview of samples and the subset of somatic mutations with >5% VAF in the tumor sample called by MuTect/Strelka.
NA, not applicable when only 1 mutation was detecte; SD, standard deviation.
False positive indicates the presence of a variant in only 1 of 4 matched BM-normal tissue pairs or in 1 of 3 matched BM-normal tissue pairs if buccal swabs were not sequenced.
False negative indicates variants that were missed in 1 of 4 matched BM-normal tissue pairs or in 1 of 3 matched BM-normal tissue pairs if buccal swabs were not sequenced.
Total of 11 patients; 159 total variants were called in samples with buccal swab samples available.