| Predicted mutation | ||||||
|---|---|---|---|---|---|---|
| evidence | seq id | position | mutation | annotation | gene | description |
| RA | USA300TCH1516_ALE | 1,324,256 | (A)9→8 | coding (1028/2010 nt) | mutL → | DNA mismatch repair protein MutL |
| Read alignment evidence... | |||||||||||
|---|---|---|---|---|---|---|---|---|---|---|---|
| seq id | position | ref | new | freq | score (cons/poly) | reads | annotation | genes | product | ||
| * | USA300TCH1516_ALE | 1,324,248 | 0 | A | . | 90.0% | 31.0 / ‑2.4 | 10 | coding (1020/2010 nt) | mutL | DNA mismatch repair protein MutL |
| Reads supporting (aligned to +/- strand): ref base A (0/1); new base . (3/6); total (3/7) | |||||||||||
| Fisher's exact test for biased strand distribution p-value = 1.00e+00 | |||||||||||
| Kolmogorov-Smirnov test that lower quality scores support variant p-value = 1.00e+00 | |||||||||||
GAGCAACTATACCAATTGATTGTGAGCAAAATACAAGAAGCATTTAAAGACCGTATATTAATTCCTAAAAATAACTTGGATTATGTGCCAAAAAAAAATAAAGTATTACATTCATTCGAACAACAAAAAATCGAATTTGAACAAAGACAAAACACAGAGAATAACCAAGAGAAGACGTTTTCATCTGAAGAAAGTAACAGTAAGCCATTTATGGAAG > USA300TCH1516_ALE/1324159‑1324375 | aaacAAATATAACAATTGATTGTGAGCAAAATACAAGAAGCATTTAAAGACCGTATATTAATTCCTAAAAATAACTTAGATTAAATAAC‑AAAAAAAATAAAGTATTACATTCATTCGAACAACAAAAAATCGAATTTGAAc < 2:145145/138‑1 (MQ=255) agaaaaaataCAAATTGATTATAAGCAAAATAAAAGAAGCAATTAAAGAACTTATAATAATTCATAAAAATAACTTGGATTAAATAAC‑AAAAAAAATAAAGTATTACATTCATTCGAACAACAAAAAATCGAATTTGAACa < 2:24309/134‑1 (MQ=255) tgAGCAAAATACAAGAAGCATTTAAAGACCGTATATTAATTCCTAAAAATAACTTGGATTATGTGCC‑AAAAAAAATAAAGTATTACATTCATTCGAACAACAAAAAATCGAATTTGAACAAAGACAAAACACAGAGAaaaa > 2:53110/1‑141 (MQ=255) aaTACAAGAAGCATTTAAAGAACGTATATTAATACCTAAAAATAACTTGAATTATG‑AAAAAAAAAAAATAAAGTATTACATTCATTCGAACAACAAAAAATCGAATTTGAACAAAGACAAAACACAGAGAATAACCAagag < 2:261235/141‑1 (MQ=255) aaaaTAACTTGGATTATGTGCC‑AAAAAAAATAAAGTATTACATTCATTCGAACAACAAAAAATCGAATTTGAACAAAGACAAAACACAGAGAATAACCAAGAGAAGACGTTTTCATCTGAAGAAAGTAACAGTAAGCCAtt < 1:152122/141‑1 (MQ=255) aaaTAACTTGGATTATGTGCC‑AAAAAAAATAAAGTATTACATTCATTCAAACAACAAAAAATCGAAATTGAACAAAGACAAAAAACAAAGAATAAAAAAAACAAGACGATTTCATCTACAGAAACAAACAATCAGCCaaac > 2:89138/1‑138 (MQ=255) aaCTTGGATTATGTGCC‑AAAAAAAATAAAGTATTACATTCATTCGAACAACAAAAAATCGAATTTGAACAAAGACAAAACACAGAGAATAACCAAGAGAAGAAGTTTTCATCTGAAGAAAGTAACAGTAAGCCATTCATgg > 1:221173/1‑141 (MQ=255) cTTGGATTATGTGAC‑AAAAAAAATAAAGTATTACATTCATTCGAACAACAAAAAATCGAATTTGAACAAAGACAAAACACAGAGAATAACCAAGAGAAGACGTTTTCATCTGAAGAAAGTAACAGTAAGCCATTTATGgaa < 2:270696/141‑1 (MQ=255) aatagATTAGGTGCC‑AAAAAAAATAAAGTATTACATTCATTAGAACAACAAAAAATCGAATTTGAACAAAGACAAAACACAGAGAATAACCAAGAGAAGACGTTTTCATCTGAAGAAAGTAACAGTAAGCCATTTATGgaa < 2:92475/137‑1 (MQ=255) ttGAATTATGTGCC‑AAAAAAAATAAAGTATTACATTCATTCGAACAACAAAAAATCGAATTTGAACAAAGACAAAACACAGAGAATAACCAAGAGAAGACGTTTTCATCTGAAGAAAGTAACAGTAAGCCATTTATGgaag < 2:128953/141‑1 (MQ=255) | GAGCAACTATACCAATTGATTGTGAGCAAAATACAAGAAGCATTTAAAGACCGTATATTAATTCCTAAAAATAACTTGGATTATGTGCCAAAAAAAAATAAAGTATTACATTCATTCGAACAACAAAAAATCGAATTTGAACAAAGACAAAACACAGAGAATAACCAAGAGAAGACGTTTTCATCTGAAGAAAGTAACAGTAAGCCATTTATGGAAG > USA300TCH1516_ALE/1324159‑1324375 |
| Alignment Legend |
|---|
Aligned base mismatch/match (shaded by quality score): ATCG/ATCG < 3 ≤ ATCG/ATCG < 12 ≤ ATCG/ATCG < 13 ≤ ATCG/ATCG < 27 ≤ ATCG/ATCG < 41 ≤ ATCG/ATCG |
Unaligned base: atcg Masked matching base: atcg Alignment gap: ‑ Deleted base: ‑ |