Predicted mutation | |||||||
---|---|---|---|---|---|---|---|
evidence | seq id | position | mutation | freq | annotation | gene | description |
RA | USA300TCH1516_ALE | 1,324,247 | C→A | 12.8% | P340Q (CCA→CAA) | mutL → | DNA mismatch repair protein MutL |
Read alignment evidence... | |||||||||||
---|---|---|---|---|---|---|---|---|---|---|---|
seq id | position | ref | new | freq | score (cons/poly) | reads | annotation | genes | product | ||
* | USA300TCH1516_ALE | 1,324,247 | 0 | C | A | 12.8% | 122.4 / 2.1 | 52 | P340Q (CCA→CAA) | mutL | DNA mismatch repair protein MutL |
Reads supporting (aligned to +/- strand): ref base C (27/17); new base A (2/6); total (29/23) | |||||||||||
Fisher's exact test for biased strand distribution p-value = 1.18e-01 | |||||||||||
Kolmogorov-Smirnov test that lower quality scores support variant p-value = 9.93e-01 |
GTAGACGTAAATGTTCATCCAACAAAACTAGAAGTGCGTTTATCAAAAGAAGAGCAACTATACCAATTGATTGTGAGCAAAATACAAGAAGCATTTAAAGACCGTATATTAATTCCTAAAAATAACTTGGATTATGTGCCAAAAAAAAATAAAGTATTACATTCATTCGAACAACAAAAAATCGAATTTGAACAAAGACAAAACACAGAGAATAACCAAGAGAAGACGTTTTCATCTGAAGAAAGTAACAGTAAGCCATTTATGGAAGAAAATCAA > USA300TCH1516_ALE/1324108‑1324383 | gtagACGTAAATGTTCATCCAACAAAACTAGAAGTGCGTTTATCAAAAGAAGAGCAACTATACCAATTGATTGTGGGCAAAATACAAGAAGCATTTAAAGACCGTATATTAATTCCTAAAAATAACTTGGATGATGTGcc > 1:260478/1‑140 (MQ=255) tagACGTAAATGTTCATCCAACAAAACTAGAAGTGCGTTTATCAAAAGAAGAGCAACTATACCAATTGATTGTGAGCAAAATACAAGAAGCATTTAAAGACCGTATATTAATTCCTAAAAATAACTTGGATTATGTGCCa > 1:382788/1‑140 (MQ=255) tagACGTAAATGTTCATCCAACAAAACTAGAAGTGCGTTTATAAAAAGTTGTGCAACGATACCCATTGATTGTGAGCAAAATACAAGAAGCATTTAAAGACCGTATATTAATTCCTAAAAATAACTTGGATTATGTGCCa > 1:760823/1‑140 (MQ=255) aCGCAAATGTTCATCCAACAAAACTAGAAGTGCGTTTATCAAAAGAAGAGCAACTATACCAATTAATTGTGAGCAAACTATAAGAAGCATTTAAAGACCGTATATTAATTCCTAAAAATAACTTGGATTATGTGCCaaaa < 2:698433/140‑1 (MQ=255) aaaaGTTCATCCAACAAAACTAGAAGTGCGATTAGCAAAAGAAGAGAAACTAAACAAATTGATTGTGAGCAAAATACAAGAAGCATTTAAAGACCGTATATTAATTCCTAAAAATAACTTGGATTAAGTGaaaaaaaaaa < 2:706826/140‑1 (MQ=255) aaTGTTCATCCAACAAAACTAGAAGTGCGTTTATCAAAAGAAGAGCAACTATACCAATTGATTGTGTTCGAAATAAAGAAAGCAATAAAACACCGTATATTCATTCATAAAACAACCTTGAATTAAGTGCCaaaaaaaaa > 2:170321/1‑140 (MQ=255) aaTGTTCATCCAACAAAACTAGAAGTGCGTTTATCAAAAGAAGAGCAACTATACCAATTGATTATCAGCAAAATACAAGAAGCATTTAAAGACCGTATATTAATTCCTAAAAATAACTAGGCTTATGTGCCaaaaaaaaa > 2:85765/1‑140 (MQ=255) gTTCAACAAACAAAGCTAGAACTGCGTATATAAACAGAAGAGCAACTATACCAATTTATTGTGAGCAAAATACAAGAAGCATTTAAAGACAGTATATTAATTCCTAAAAATAACTTGGATTATGTACCAAAAAAAAATaa < 2:60096/140‑1 (MQ=255) tgcaacaacaaAATTAGAAATGCGTTAATCAGAAGAAAAAGCACAATAACAAATGAAGATGAGCAAAATAAAAGATGCATTTAAAGACTGTATAATAATTCCTAAAAATAACTAAGATAATGAGCAAAAAAAAAATAAAg < 2:145941/135‑1 (MQ=255) tCCAACAAAACTAGAAGTGCGTTTATCAAAAGAAGAGCAACTATACCAATTGATTGTGAGCAAAATACAAGAAGCATTTAAAGACCGTATATTAATTCCTAAAAATAACTTGGATTATGTGCCAAAAAAAAATAAAGAAt > 2:31872/1‑140 (MQ=255) caaAACTAGAAGTGCGATTAAAAAAAAAAGAGCAACTATACCAATTGATTGTGAGCAAAATACAAGAAGCATTTGCGAACCGAAGATTAATTCCTAAAATTAACTTGGATTATGTGCCAAAAAAAAATAAAGTATTAcat < 2:96528/140‑1 (MQ=255) aaCTAGAAGTGCGTTTATCAAAAGAAGAGCAACTATACCAATTGATTGTGAGCAAAATACAAGAAGCATTTAAAGACCGTATATTAATTCCTAAAAATAACTTGGATTATGTGCCAAAAAAAAATAAAGTATTAcattca > 1:192539/1‑140 (MQ=255) aaCTAGAAGTGCGTTTATCAAAAGAAGAGCAACTATACCAATTGATTGTGAGCAAAATACAAGAAGCATTTAAAGACCGTATATTAATTCCTAAAAATAACTTGGATTATGTGCCAAAAAAAAATAAAGAATTAcattca > 2:694561/1‑140 (MQ=255) aCTAGAAGTGCGTTTATCAAAAGAAGAGCAACTATACCAATTGATTGTGAGCAAAATACAAGAAGCATTTAAAGACCGTATATTAATTCCTAAAAATAACTTGGATTATGTGCCAAAAAAAAATAAAGTATTAcattcat > 2:372945/1‑140 (MQ=255) aGAAGTGCGTTTATCAAAAGAAGAGCAACTATACCAATTGATTGTGAGCAAAATACAAGAAGCATTTAAAGACCGTATATTAATTCCTAAAAATAACTTGGATTATGTGCCAAAAAAAAATAAAGTATTACATTCATTCg > 1:469119/1‑140 (MQ=255) aGAAGTGCGTTTATCAAAAGAAGAGCAACTATACCAATTGATTGTGAGCAAAATACAAGAAGCATTTAAAGACCGTATATTAATTCCTAAAAATAAATTGGATTATGTGCAAAAAAAAAATAAAGTATAACATACATTCg > 2:294081/1‑140 (MQ=255) aGTGCGTTTATCAAAAGAAGAGCAACTATACCAATTGATTGTGAGCAAAATACAAGAAGCATTTAAAGACCGTATATTAATTCCTAAAAATATGTTGGAAAAAGCTCAAAAAAAAAATAAAGTATTACATTCATTCGaag > 2:777551/1‑139 (MQ=255) tGCGTTTATCAAAAGAAGAGCAACTATACCAATTGATTGTGAGCAAAATACAAGAAGCATTTAAAGACCGTATATTAATTCCTAAAAATAACTTGGATTATGTGCCAAAAAAAAATAAAGTATTACATTCATTCGaacaa < 1:708539/140‑1 (MQ=255) tcgacAAAAAAAAAGCAAATAGTCCAATTAATTGAGAGGAAAATACAAGAAGCAATTACAGACCGTATATTAAATCATAAAAATAACTTAAAATAAAT‑AAAAAAAAAAATAAAGTATTACATTCATTCGAACAACaaaaa < 2:570012/136‑1 (MQ=255) aagaagAGCAACTATACCAAAAGAATTACAGCAAAATTGCAGTATAACGGAAAAGCCTGATATTAATTCCTAAAAATAACTTGGATTATGTGCCAAAAAAAAATAAAGTATTACATTCATTCGAACAACAAAAAATCGaa < 1:371848/140‑1 (MQ=255) aaCTATACCAATTGATTGTGAGCAAAATACAAGAAGCATTTAAAGACCGTATATTAATTCCTAAAAATAACTTGGATTATGTGCCAAAAAAAAATAAAGTATTACATTCATTCGAACAACAAAAAATCGAATTTGAACaa > 2:122755/1‑140 (MQ=255) cTATACCAATTGATTGTGAGCAAAATACAAGAAGCATTTAAAGACCGTATATTAATTCCTAAAAATAACTTGGATTATGTGCCAAAAAAAAATAAAGTATTACATTCATTCGAACAACAAAAAATCGAATTTGAACAAAg < 2:760823/140‑1 (MQ=255) tgattgTGAGCAAAATACAAGAAGCATTTAAAGACCGTATATTAATTCCTAAAAATAACTTGGATTATGTGCCAAAAAAAAATAAAGTATTACATTCATTCGAACAACAAAAAATCGAATTTGAACAAAGACAAAAcaca > 1:179153/1‑140 (MQ=255) attgTGAGCAAAATACAAGAAGCATTTAAAGACCGTATATTAATTCCTAAAAATAACTTGGATTATGTGCCAAAAAAAAATAAAGTATTACATTCATTCGAACAACAAAAAATCGAATTTGAACAAAGACAAAACACaga > 2:248600/1‑140 (MQ=255) aatttgAGCAAAATACAAGAAAGATTTAAAGACCGTAAAATAATGCGTAAAAAGAACTTGGATTATGTGCCAAAAAAAAATAAAGTATCACATTCATTCGAACAACAAAAAATCGAATTTGAACAAAGACAAAACACaga < 2:324721/136‑1 (MQ=255) tgtgAGCAAAATACAAGAAGCATTTAAAGACCGTATATTAATTCCTAAAAATAACTTGGATTATGTGCCAAAAAAAAATAAAGTATTACATTCATTCGAACAACAAAAAATCGAATTTGAACAAAGACAAAACACAgaga < 2:64733/140‑1 (MQ=255) tgtgAGCAAAATACAAGAAGCATTTAAAGACCGTATATTAATTCCTAAAAATAACTTGGATTATGTGCCAAAAAAAAATAAAGTATTACATTCATTCGAACAACAAAAAATCGAATTTGAACAAAGACAAAACACAgaga > 1:116160/1‑140 (MQ=255) tgtgAGCAAAATACAAGAAGCATTTAAAGACCGTATATTAATTCCTAAAAATAACTTGGATTATGTGCCAAAAAAAAATAAAGTATTACATTCATTCGAACAACAAAAAATCGAATTTGAACAAAGACAAAACACAgaga < 1:529150/140‑1 (MQ=255) aGCAAAATACAAGAAGCATTTAAAGACCGTATATTAATTCCTAAAAATAACTTGGATTATGTGCCAAAAAAAAATAAAGTAGTACATTCATTCGAACAACAAAAAATCGAATTTGAACAAAGACAAAACACAGAGAATaa < 2:420374/140‑1 (MQ=255) cAAAATACAAGAAGCATTTAAAGACCGTATATTAATTCCTAAAAATAACTTGGATTATGTGCCAAAAAAAAATACTGCAGGACAAACATTCTAACAACAAAAAATCGAATTTGAACAAAGACAAAACACATAGAATAAcc > 1:184168/1‑140 (MQ=255) gaagCATTTAAAGACCGTATATTAATTCCTAAAAATAACTTGGATTATATGCAAAAAAAAAATAAAGTATTACATTCATTCGAACAACAAAAAATCGAATTTGAACAAAGACAAAACACAGAGAATAACCAAGAGAAGAc < 2:214234/140‑1 (MQ=255) gaagCATTTAAAGACCGTAAATTAATACCTAAAAATAACTTGGATTATGTGCCAAAAAAAAATAAAGTATTACATTCATTCGAACAACAAAAAATCGAATTTGAACAAAGACAAAACACAGAGAATAACCAAGAGAAGAc < 2:599937/140‑1 (MQ=255) aaaacATTTAAAGACCGAAAATTAATTCCTAAAAAAAACTTGGATTATGTAAAAAAAAAAAATAAAGTATTACATTCATTCGAACAACAAAAAATCGAATTTGAACAAAGACAAAACACAGAGAATAACCAAGAGAAGAc < 2:589574/136‑1 (MQ=255) agCATTTAAAGACAGTATACTGACTGCCAAAAATAACTTGGATTATGTGCCAAAAAAAAATAAAGTATTACATTCATTCGAACAACAAAAAATCGAATTTGAACAAAGACAAAACACAGAGAATAACCAAGAGAAGACgg > 2:250882/1‑139 (MQ=255) cataaaaaGAACGAATAATAATTCATAACAATAACTTGGATAAAAAAAAAAAAAAAAATAAAGTATTACATTCATTCGAACAACAAAAAATCGAATTTGAACAAAGACAAAACACAGAGAATAACCAAGAGAAGACGttt < 2:681724/135‑1 (MQ=255) cATTTAAAGACCGTATATTAATTCCTAAAAATAACTTGGATTATGTGCCAAAAAAAAATAAAGTATTACATTCATTCGAACAACAAAAAAACGAATTTGAACAAAGACAAAACACAGAGAATAACCAAAAGAAAACGtat > 2:149024/1‑138 (MQ=255) tttAAAGACCGTATATTAATTCCTAAAAATAACTTGGATTATGTGCCAAAAAAAAATAAAGTATTACATTCATTCGAACAACAAAAAATCGAATTTGAACAAAGACAAAACACAGAGAATAACCAAGAGAAGACGTTTTc > 1:604471/1‑140 (MQ=255) ttAAAGACCGTATATTAATTCCTAAAAATAACTTGGATTATGTGCCAAAAAAAAAAAAAGTATTACATTCATTCGAACAACAAAAAATCGAATTTGAACAAAGACAAAACACAGAGAATAAACAAGAGAAGAAGTTTTCa > 1:506915/1‑140 (MQ=255) tAAAGACCGTATATTAAATCCTAAAAATAACTTGGATTATGTGCCAAAAAAAAATAAAGTATTACATTCATTCGAACAACAAAAAATCGAATTTGAACAAAGACAAAACACAGAGAATAACCAAGAGAAGACGTTTTCAt < 1:706094/140‑1 (MQ=255) aGACCGTATATTAATTCCTAAAAATAACTTGGATTATGTGCCAAAAAAAAATAAAGTATTACATTCATTCGAACAACAAAAAATCGAATTTGAACAAAGACAAAACACAGAGAATAACCAAGAGAAGACGTTTTCATCTg < 1:686524/140‑1 (MQ=255) gACCGTATATTAATTCCTAAAAATAACTTGGATTATGTGCCAAAAAAAAATAAAGTATTACATTCATTCGAACAACAAAAAATCGAATTTGAACAAAGACAAAACACAGAGAATAACCAAGAGAAGACGTTTTCATCTga > 1:161885/1‑140 (MQ=255) ccGTATATTAATTCCTAAAAATAACTTGGATTATGTGCCAAAAAAAAATAAAGTATTACATTCATTCGAACAACAAAAAATCGAATTTGAACAAAGACAAAACACAGAGAATAACCAAGAGAAGACGTTTTCATCTgaag < 1:248600/140‑1 (MQ=255) cGTATATTAATTCCTAAAAATAACTTGGATTATGTGCCAAAAAAAAATAAAGTATTACATTCATTCGAACAACAAAAAATCGAATTTGAACAAAGACAAAACACAGAGAATAACCAAGAGAAGACGTTTTCATCTgaaga > 1:553624/1‑140 (MQ=255) tAATTCCTAAAAATAACTTGGATTATGTGCCAAAAAAAAATAAAGTATTACATTCATTCGAACAACAAAAAATCGAATTTGAACAAAGACAAAACACAGAGAATAACCAAGAGAAGACGTTTTCATCTGAAGAAAGTAAc < 1:803828/140‑1 (MQ=255) aaaaaTAACTTGGATTATGTGCCAAAAAAAAATAAAGTATTACATTCATTCGAACAACAAAAAATCGAATTTGAACAAAGACAAAACACAGAGAATAACCAAGAGAAGACGTTTTCATCTGAAGAAAGTAACAGTAAGcc > 1:466667/1‑140 (MQ=255) aaTAACTTGGATTATGTGCCAAAAAAAAATAAAGTATTACATTCATTCGAACAACAAAAAATCGAATTTGAACAAAAACAAAACACAGAGAATAACCAAGAGAAGACGTATTCATCTGAACAAAATAACAGTAAGACact > 2:264269/1‑138 (MQ=255) aaCTTGGATGATGTCCCAAAAAAAAATAAAGTATTACATTCATTCGACCATCCAAAAATCTAATCTGAACAAAGTCAAAACACAGAGAATAACCAAGAGAAGACGTTTTCATCTGAAGAAAGTAACAGTAAGCCATTTAt < 1:183944/140‑1 (MQ=255) cTTGGATTATGTGCCAAAAAAAAATAAAGTATTACATTCATTCGAACAACAAAAAATCGAATTTGAACAAAGACAAAACACAGAGAATAACCAAGAGAAGACGTTTTCATCTGAAGAAAGTAACAGTAAGCCATTTATgg > 1:162466/1‑140 (MQ=255) cTTGGATTATGGGCCAAAAAAAAATAAAGTAACACATTCATTCGAACAACAAAAAAGCGAATTTGAACAAAGACAAAACACAGAGAATAACCAAGAGAAGACGTTTTCATCTGAAGAAAGTAACAGTAAGCCATTTATgg < 1:717473/140‑1 (MQ=255) tATGTGCCAAAAAAAAATACAGAATTCCATGCATGCGAACAACAAAAAATCGAATTTGAACAAAGACAAAACACAGAGAATAACCAAGAGAAGACGTTTTCATCTGAAGAAAGTAACAGTAAGCCATTTATGGAAGaaaa > 1:764479/1‑140 (MQ=255) tgtgCAAAAAAAAAATAAAGTATTACATTCATTCGAACAACAAAAAATCGAATTTGAACAAAGACATAAGACAGAGAATAACCAAGAGAAGACGTTTGCATCTGAAGAAAGTAACAGTAAGCCATTTATGGAAGAAAATc < 2:745498/140‑1 (MQ=255) gtgCCAAAAAAAAATAAAGTATTACATTCATTCGAACAACAAAAAATCGAATTTGAACAAAGACACAACACATAGAATAACCAAGAGAAGACGTTTTCATCTGAAGAAAGTAACAGTAAGCCATTTATGGAAGAAAATCa > 1:798901/1‑140 (MQ=255) gtgCCAAAAAAAAATAAAGTATTACATTCATTCGAACAACAAAAAATCGAATTTGAACAAAGACAAAACACGGAGAATAACCAAGAGAAGACGTTTTCATCTGAAGAAAGTAACAGTAAGCCATTTATGGAAGAAAAACa > 1:410101/1‑140 (MQ=255) gtgCC‑AAAAAAAATAAAGTATTACATTCATTCGAACAAAAAAAAATCGAATTTGAACAAAGACAAAACACAGAGAATAACCAAGAGAAGACGTTTTCATCTGAAGAAAGTAACAGTAAGCCATTTATGGAAGAAAATCaa > 1:768317/1‑140 (MQ=255) | GTAGACGTAAATGTTCATCCAACAAAACTAGAAGTGCGTTTATCAAAAGAAGAGCAACTATACCAATTGATTGTGAGCAAAATACAAGAAGCATTTAAAGACCGTATATTAATTCCTAAAAATAACTTGGATTATGTGCCAAAAAAAAATAAAGTATTACATTCATTCGAACAACAAAAAATCGAATTTGAACAAAGACAAAACACAGAGAATAACCAAGAGAAGACGTTTTCATCTGAAGAAAGTAACAGTAAGCCATTTATGGAAGAAAATCAA > USA300TCH1516_ALE/1324108‑1324383 |
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: ‑ |