Date | 2021-01-11 13:12:47 |
Sample | metastatic_breast |
Chr | Pos | Ref | Alt | Gene | Type | AA change | Meta | VAF | A | T | G | C | Ins | Del |
---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
1 | 115258745 | C | T | NRAS | Missense_Mutation | G13S | deleterious(0.02) | 0.014 | 0 | 4 | 0 | 292 | 0 | 0 |
2 | 204732714 | A | G | CTLA4 | Missense_Mutation | T17A | tolerated_low_confidence(0.21) | 0.522 | 140 | 0 | 153 | 0 | 0 | 0 |
3 | 10188200 | C | A | VHL | Missense_Mutation | H115N | deleterious(0) | 0.016 | 4 | 0 | 0 | 240 | 0 | 0 |
4 | 153244184 | C | T | FBXW7 | Missense_Mutation | R658Q | tolerated(0.15) | 0.015 | 0 | 4 | 0 | 262 | 0 | 0 |
5 | 67588951 | C | T | PIK3R1 | Nonsense_Mutation | R348* | "" | 0.019 | 0 | 4 | 0 | 204 | 0 | 0 |
6 | 31324603 | C | T | HLA-B | Missense_Mutation | E69K | tolerated_low_confidence(0.1) | 0.991 | 0 | 228 | 0 | 2 | 0 | 0 |
6 | 152419920 | T | C | ESR1 | Missense_Mutation | L536P | deleterious(0.01) | 0.023 | 0 | 299 | 0 | 7 | 0 | 0 |
6 | 152419926 | A | G | ESR1 | Missense_Mutation | D538G | deleterious(0) | 0.247 | 225 | 0 | 74 | 0 | 0 | 0 |
10 | 89720679 | C | T | PTEN | Missense_Mutation | T277I | deleterious(0) | 0.073 | 0 | 4 | 0 | 51 | 0 | 0 |
12 | 58145431 | G | T | CDK4 | Missense_Mutation | R24S | deleterious(0) | 0.015 | 0 | 5 | 328 | 0 | 0 | 0 |
13 | 110435231 | C | T | IRS2 | Missense_Mutation | G1057D | tolerated(0.61) | 0.453 | 0 | 141 | 0 | 170 | 0 | 0 |
16 | 68772218 | C | T | CDH1 | Nonsense_Mutation | Q23* | "" | 0.432 | 0 | 120 | 0 | 158 | 0 | 0 |
17 | 7578475 | G | T | TP53 | Missense_Mutation | P152Q | deleterious(0) | 0.014 | 1 | 4 | 286 | 0 | 0 | 0 |
17 | 7578476 | G | T | TP53 | Missense_Mutation | P152T | deleterious(0) | 0.020 | 0 | 6 | 288 | 0 | 0 | 0 |
17 | 37866662 | G | T | ERBB2 | Missense_Mutation | D277Y | tolerated(0.06) | 0.011 | 0 | 4 | 351 | 0 | 0 | 0 |
17 | 37866710 | G | A | ERBB2 | Missense_Mutation | A293T | deleterious(0) | 0.012 | 4 | 2 | 331 | 0 | 0 | 0 |
19 | 10602328 | C | A | KEAP1 | Missense_Mutation | G417V | deleterious(0) | 0.010 | 4 | 0 | 0 | 395 | 0 | 0 |
19 | 11144113 | G | A | SMARCA4 | Missense_Mutation | G1232S | "" | 0.013 | 5 | 1 | 368 | 0 | 0 | 0 |
BAM | metastatic_breast.bam |
Variants queried | 3181 |
Variants with somatic evidance | 18 [VAF > 0.01] |
Avg. depth of coverage | 189.23 |
MAPQ filter | 10 |
Coverage filter | 30 |
VAF filter | 0.01 |
Min. number of reads supporting tumor allele | 4 |