Table 2. Total variants obtained after filtering performed to increase the specificity of NGS results (higher stringency).
General (pre-filters) | Selected Variants | ||||||
---|---|---|---|---|---|---|---|
Samples | Total | SNV | Insertions | Deletions | LOFs | Missense | Cosmic |
ESS 2 | 2347 | 2257 | 40 | 50 | 1 | 6 | 5 |
ESS 3 | 1551 | 1473 | 31 | 47 | 2 | 6 | 4 |
ESS 4 | 1249 | 1162 | 36 | 51 | 1 | 1 | 1 |
ESS 5 | 1416 | 1324 | 36 | 56 | 0 | 4 | 3 |
ESS 7 | 1494 | 1397 | 40 | 57 | 2 | 2 | 1 |
ESS 9 | 1421 | 1343 | 35 | 43 | 1 | 6 | 5 |
ESS 10 | 1440 | 1329 | 35 | 76 | 4 | 6 | 6 |
UCS 2 | 1332 | 1223 | 47 | 62 | 3 | 4 | 4 |
UCS 5 | 1362 | 1271 | 42 | 49 | 7 | 13 | 7 |
UCS 9 | 1972 | 1884 | 42 | 46 | 1 | 6 | 4 |
UCS 13 | 1234 | 1150 | 36 | 48 | 1 | 6 | 4 |
UCS 19 | 1604 | 1516 | 33 | 55 | 1 | 3 | 3 |
ULMS 38 | 746 | 678 | 43 | 25 | 0 | 7 | 4 |
ULMS 39 | 1768 | 1688 | 34 | 46 | 1 | 2 | 2 |
ULMS 40 | 1296 | 1193 | 42 | 61 | 2 | 3 | 1 |
ULMS 45 | 2004 | 1921 | 36 | 47 | 2 | 3 | 1 |
ULMS 52 | 2806 | 2746 | 23 | 37 | 0 | 11 | 6 |
ULMS 50 | 2842 | 2651 | 77 | 114 | 0 | 1 | 0 |
ULMS 59 | 2132 | 1968 | 76 | 88 | 4 | 6 | 2 |
ADS 2 | 3521 | 3406 | 41 | 74 | 6 | 10 | 0 |
ULM 119 | 1298 | 1201 | 37 | 60 | 1 | 1 | 0 |
ULM 143 | 981 | 919 | 33 | 29 | 1 | 2 | 2 |
ULM 152 | 1297 | 1237 | 25 | 35 | 1 | 2 | 1 |
*Endometrial stromal sarcoma (ESS); Uterine carcinosarcoma (UCS); Uterine leiomyosarcoma (ULMS); Adenocarcinoma (ADS); Uterine leiomyoma (ULM).Single nucleotide variant (SNV); Loss of function (LOFs); Catalogue of Somatic Mutations in Cancer (COSMIC).