| Predicted mutation | |||||||
|---|---|---|---|---|---|---|---|
| evidence | seq id | position | mutation | freq | annotation | gene | description |
| RA | USA300TCH1516_ALE | 1,324,248 | Δ1 bp | 100% | coding (1020/2010 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 | . | 91.7% | 90.0 / 0.5 | 24 | coding (1020/2010 nt) | mutL | DNA mismatch repair protein MutL |
| Reads supporting (aligned to +/- strand): ref base A (1/1); new base . (11/11); total (12/12) | |||||||||||
| 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 | |||||||||||
| Rejected as polymorphism: E-value score below prediction cutoff. | |||||||||||
| Rejected as polymorphism: Variant not supported by required number of reads on each strand. | |||||||||||
| Rejected as polymorphism: Polymorphic indel expands or contracts a homopolymer stretch. | |||||||||||
TTCATCCAACAAAACTAGAAGTGCGTTTATCAAAAGAAGAGCAACTATACCAATTGATTGTGAGCAAAATACAAGAAGCATTTAAAGACCGTATATTAATTCCTAAAAATAACTTGGATTATGTGCCAAAAAAAAATAAAGTATTACATTCATTCGAACAACAAAAAATCGAATTTGAACAAAGACAAAACACAGAGAATAACCAAGAGAAGACGTTTTCATCTGAAGAAAGTAACAGTAAGCCATTTATGGAAGAAAATCAAA > USA300TCH1516_ALE/1324121‑1324384 | ttCATCCAACAAAACTAGAAGTGCGTTTATCAAAAGAAGAGCAACTATACCAATTGATTGTGAGCAAAATACAAGAAGCATTTAAAGACCGTATATTAATTCCTAAAAATAACTTGGATTATGTGCC‑AAAAAAAATAAAGt < 1:200206/141‑1 (MQ=255)ttCATCAAACAAAACTAGAAGTGCGTTTATCAAAAGAAGAGCAACTATACCAATTGATTGTGAGCAAAATACAAGAAGCATTTAAAGACCGTATATTAATTCCTAAAAATAACTTGGATTATGTGCC‑AAAAAAAATAAAGt < 1:4536/141‑1 (MQ=255) aacaaAACTAGAAGTGCGTTTATCAAAAGAAGAGCAACTATACCAATTGATTGTGAGCAAAATACAAGAAGCATTTAAAGACCGTATATTAATTCCTAAAAATAACTTGGATTATGTGCC‑AAAAAAAATAAAGTATTAcat < 1:328859/141‑1 (MQ=255) acaaAACTAGAAGTGCGTTTATCAAAAGAAGAGCAACTATACCAATTGATTGTGAGCAAAATACAAGAAGCATTTAAAGACCGTATATCAAGTCCTAAAAATAACTTGGATTATGTGCC‑AAAAAAAATAAAGTATTAcatt > 1:269664/1‑141 (MQ=255) gAAGTGCGTTTATCAAAAGAAGAGCAACTATACCAATTGATTGTGAGCAAAATACAAGAAGCATTTAAAGACCGTATATTAATTCCTAAAAATAACTTGGATTATGTGCC‑AAAAAAAATAAAGTATTACATTCATTCGaaa > 1:368067/1‑140 (MQ=255) aGTGCGTTTATCAAAAGAAGAGCAACTATACCAATTGATTGTGAGCAAAATACAAGAAGCATTTAAAGACCGTAGATTAATTCCTACAAATACTTTGGATGATGTGCC‑AAAAAAAATAAAGAATTACATTCATTCAaacac > 2:42707/1‑140 (MQ=255) acAAACGAAGAGTAACTATACCCATGGATTGTGAGAAAAATACAAGAAGCATTCAAAGACCGTATATTAATTCCTAAAAATAACTTGCATTATGAG‑AAAAAAAAAATAAAGTATTACATTCATTCGAACAACAAAAAATCg < 1:181021/140‑1 (MQ=255) cAAAAGAAGAGCAACTATACCAATTGATTGTGAGCAAAATACAAGAAGCATTTAAAGACCGTATATTAATTCCTAAATATAACTTGGATTATGTG‑CAAGACAACATAAAGTATTACATTCATTCGAACAACAAAAAATCGa > 1:267713/1‑141 (MQ=255) aaaGAAGAGCAACTATACCAATTGATTGTGAGCAAAATTCACGCGCCTATCAAATGCCGTATATTAATTCCTAAAAATAACTTGGATTATGTGCC‑AAAAAAAATAAAGTATTACATTCATTCGAACAACAAAAAATCGAAt < 1:89543/141‑1 (MQ=255) aaaGAAGAGCAACTATACCAATTGATTGTGAGCAAAATACAAGAAGCATTTAAAGACCGTATATTAATTCCTAAAAATAACTTGGATTATGTGCC‑AAAAAAAATAAAGTATTACATTCATTCGAACAACAAAAAATCGAAt < 1:320014/141‑1 (MQ=255) gCAACTATACCAATTGATTGTGAGCAAAATACAAGAAGCATTTAAAGACCGTATATTAATTCCTAAAAATAACTTGGATTATGTGCC‑AAAAAAAATAAAGTATTACATTCATTCGAACAACAAAAAATCGAATTTGAACaa > 1:384890/1‑141 (MQ=255) tattgTGAGCAAAATACAAGAAGCATTTAAAGACCGTATATTAATTCCTAAAAATAACTTGGATTATGTGCC‑AAAAAAAATAAAGTATTACATTCATTCGAACAACAAAAAATCGAATTTGAACAAAGACAAAACACagag < 1:336676/140‑1 (MQ=255) gagtgggAGCAAAATACAAGAAGCATTTAAAGCCCGTATATTAATTCCTAAAAATAACTTGGATTATGTGCC‑AAAAAAAATAAAGTATTACATTCATTCGAACAACAAAAAATCGAATTTGAACAAAGACAAAACACagag < 1:176696/135‑1 (MQ=255) tgtgAGCAAAATACAAGAAGCATTTAAAGACCGTATATTAATTCCTAAAAATAACTTGGATTATGTGCC‑AAAAAAAATAAAGTATTACATTCATTCGAACAACAAAAAATCGAATTTGAACAAAGACAAAAcacaaaaaaa > 2:36967/1‑135 (MQ=255) aGCAAAATACAAGAAGCATTTAAAGACCGTATATTAATTCCTAAAAATAACTTGGATTATGTGCC‑AAAAAAAATAAAGTATTACATTCATTCGAACAACAAAAAATCGAATTTGAACAAAGACAAAACACAGAGACTAAcc > 1:126390/1‑141 (MQ=255) tACAATAAGCATTTAAAGACCGTATATTAATTCCTAAAAATAACTTGGATTATGTGCC‑AAAAAAAATAAAGTATTACATTCATTCGAACAACAAAAAATCGAATTTGAACAAAGACAAAACACAGAGAATAACCAAGagaa < 2:116857/141‑1 (MQ=255) cAAGAAGCATTTAAAGACCGTATATTAATTCCTAAAAATAACTTGGATTATGTGCC‑AAAAAAAATAAAGTATTACATTCATTCGAACAACAAAAAATCGAATTTGAACAAAGACAAAACACAGAGAATAACCAAGagaaga < 1:49310/141‑1 (MQ=255) aagaagCATTTAAAGACCGTATATTAATACCTAAAAATAACTTGGATTATGTGCC‑AAAAAAAATAAAGTATTACATTAATACGAACAACAAAAAATCGAATTTGAACAAAGACAAAACACAGAGAATAACCAAGAGAAGAc < 2:14882/141‑1 (MQ=255) ttAAAGACCGTATATTAATTCCTAAAAATAACTTGGATTATGTGCC‑AAAAAAAATAAAGTATTACATTCATTCGAACAACAAAAAATCGAATTTGAACAAAGACAAAACACAGAGAATAACCAAGAGAAGACGTTTTCATc > 1:182884/1‑141 (MQ=255) aaaGACCGTATATTAATTCCTAAAAATAACTTGGATTAAGTGCC‑AAAAAAAATAAAGTATTACATTCATTCGAACACCAAAAAATCGAATTTGAAAAAAGACAAAACACAGAAAAAAACAAAGGGAAGCCAttttaaaata > 2:334186/1‑135 (MQ=255) gACCGTATATTAATACCTAAAAATAACTTGGATTATGTTCC‑AAAAAAAATAAAGGAGTACATTCATTCGAACAACAAAAAATCGAATTTGAACAAAGACAAAACACAGAGAATAACCAAGAGAAGACGTTTTCATCGgaag > 2:231017/1‑141 (MQ=255) cTAAAAATAACTTGGATTATGTGCC‑AAAAAAAATAAAGTATTACATTCATTCGAACAACAAAAAATCGAATTTGAACAAAGACAAAACACAGAGAATAACCAAGAGAAGACGTTTTCATCTGAAGAAAGTAACAGTAAGcc < 1:261433/141‑1 (MQ=255) aCTTGGATTATGTGCC‑AAAAAAAATAAAGTATTACATTCATTCGAACAACAAAAAATCGAATTTGAACAAAGACAAAACACAGAGAATAACCAAGAGAAGACGTTTTCATCTGAAGAAAGTAACAGTAAGCCATTGATGga > 1:109334/1‑141 (MQ=255) gtgCC‑AAAAAAAATAAAGTATTACATTCATTCGAACAACAAAAAATCGAATTTGAACAAAGACAAAACACAGAGAATAACCAAGAGAAGACGTTTTCATCTGAAGAAAGTAACAGTAAGCCATTTATGGAAGAAAATCaaa > 1:19876/1‑141 (MQ=255) | TTCATCCAACAAAACTAGAAGTGCGTTTATCAAAAGAAGAGCAACTATACCAATTGATTGTGAGCAAAATACAAGAAGCATTTAAAGACCGTATATTAATTCCTAAAAATAACTTGGATTATGTGCCAAAAAAAAATAAAGTATTACATTCATTCGAACAACAAAAAATCGAATTTGAACAAAGACAAAACACAGAGAATAACCAAGAGAAGACGTTTTCATCTGAAGAAAGTAACAGTAAGCCATTTATGGAAGAAAATCAAA > USA300TCH1516_ALE/1324121‑1324384 |
| Alignment Legend |
|---|
Aligned base mismatch/match (shaded by quality score): ATCG/ATCG < 3 ≤ ATCG/ATCG < 12 ≤ ATCG/ATCG < 13 ≤ ATCG/ATCG < 32 ≤ ATCG/ATCG < 41 ≤ ATCG/ATCG |
Unaligned base: atcg Masked matching base: atcg Alignment gap: ‑ Deleted base: ‑ |