| Predicted mutation | ||||||
|---|---|---|---|---|---|---|
| evidence | seq id | position | mutation | annotation | gene | description |
| RA | NC_007793 | 613,084 | 4 bp→AAAA | coding (1938‑1941/2844 nt) | SAUSA300_RS02915 → | serine‑aspartate repeat‑containing protein C |
| Read alignment evidence... | |||||||||||
|---|---|---|---|---|---|---|---|---|---|---|---|
| seq id | position | ref | new | freq | score (cons/poly) | reads | annotation | genes | product | ||
| * | NC_007793 | 613,084 | 0 | T | A | 85.4% | 18.4 / 10.0 | 48 | I646I (ATT→ATA) | SAUSA300_RS02915 | serine‑aspartate repeat‑containing protein C |
| Reads supporting (aligned to +/- strand): ref base T (6/1); new base A (41/0); total (47/1) | |||||||||||
| Fisher's exact test for biased strand distribution p-value = 1.46e-01 | |||||||||||
| Kolmogorov-Smirnov test that lower quality scores support variant p-value = 8.37e-01 | |||||||||||
| * | NC_007793 | 613,085 | 0 | G | A | 87.5% | 19.1 / 4.0 | 48 | G647S (GGT→AGT) | SAUSA300_RS02915 | serine‑aspartate repeat‑containing protein C |
| Reads supporting (aligned to +/- strand): ref base G (5/1); new base A (42/0); total (47/1) | |||||||||||
| Fisher's exact test for biased strand distribution p-value = 1.25e-01 | |||||||||||
| Kolmogorov-Smirnov test that lower quality scores support variant p-value = 9.76e-01 | |||||||||||
| * | NC_007793 | 613,086 | 0 | G | A | 89.6% | 20.4 / 2.2 | 48 | G647D (GGT→GAT) | SAUSA300_RS02915 | serine‑aspartate repeat‑containing protein C |
| Reads supporting (aligned to +/- strand): ref base G (4/1); new base A (43/0); total (47/1) | |||||||||||
| Fisher's exact test for biased strand distribution p-value = 1.04e-01 | |||||||||||
| Kolmogorov-Smirnov test that lower quality scores support variant p-value = 9.25e-01 | |||||||||||
| * | NC_007793 | 613,087 | 0 | T | A | 91.5% | 24.0 / 2.5 | 48 | G647G (GGT→GGA) | SAUSA300_RS02915 | serine‑aspartate repeat‑containing protein C |
| Reads supporting (aligned to +/- strand): ref base T (4/0); new base A (43/0); total (47/1) | |||||||||||
| Fisher's exact test for biased strand distribution p-value = 1.00e+00 | |||||||||||
| Kolmogorov-Smirnov test that lower quality scores support variant p-value = 9.65e-01 | |||||||||||
CAGTAATAAAGATGGTAAACAAGATTCGACTGAAAAAGGAATTAAAGGTGTTAAAGTTACTTTGCAAAACGAAAAAGGCGAAGTAATT‑G‑GTACAACTGAAACAGATGAAAATGGTAAATACCGCTTTGATAATTTAGATAGTGGTAAATACAAAGTTATCTTTGAAAAACCTGCT > NC_007793/612997‑613171 |||||| cAGTAATAAAGATGGTAAACAAGATTCGACTGAAAAAGGAATTAAAGGTGTTAAAGTTACTTTGCAAAACGAAAAAGGCGAAGTAATT‑G‑GTACAACTGaa > 1:2905473/1‑100 (MQ=255) ggTAAACAAGATTCGACTGAAAAAGGAATTAAAGGTGTTAAAGTTACTTTGCAAAACGAAAAAGGCGAAGTAATT‑G‑GTACAACTGAAACAGATGAAAATg > 1:3533824/1‑100 (MQ=255) gtgatGAAAAAGGTATTAAAGGTGTTAAAGTTACTTTAAAAGATAGTGAAGGTAACACATTA‑A‑AAACAACTGAAACTGATGAAAATGGTAAGTATCGCtt > 1:227761/5‑100 (MQ=255) gctatGAAAAAGGTATTAAAGGTGTTAAAGTTACTTTAAAAGATAGTGAAGGTAACACATTA‑A‑AAACAACTGAAACTGATGAAAATGGTAAGTATCGCtt > 1:27196/5‑100 (MQ=255) atgatGAAAAAGGTATTAAAGGTGTTAAAGTTACTTTAAAAGATAGTGAAGGTAACACATTA‑A‑AAACAACTGAAACTGATGAAAATGGTAAGTATCGCtt > 1:681845/5‑100 (MQ=255) atgatGAAAAAGGTATTAAAGGTGTTAAAGTTACTTTAAAAGATAGTGAAGGTAACACATTA‑A‑AAACAACTGAAACTGATGAAAATGGTAAGTATCGCtt > 1:3446005/5‑100 (MQ=255) tgatGAAAAAGGTATTAAAGGTGTTAAAGTTACTTTAAAAGATAGTGAAGGTAACACATTA‑A‑AAACAACTGAAACTGATGAAAATGGTAAGTATCGCttt > 1:1267738/4‑100 (MQ=2) tgatGAAAAAGGTATTAAAGGTGTTAAAGTTACTTTAAAAGATAGTGAAGGTAACACATTA‑A‑AAACAACTGAAACTGATGAAAATGGTAAGTATCGCttt > 1:3787447/4‑100 (MQ=2) tgatGAAAAAGGTATTAAAGGTGTTAAAGTTACTTTAAAAGATAGTGAAGGTAACACATTA‑A‑AAACAACTGAAACTGATGAAAATGGTAAGTATCGCttt > 1:129650/4‑100 (MQ=2) tgatGAAAAAGGTATTAAAGGTGTTAAAGTTACTTTAAAAGATAGGGAAGGTAACACATTA‑A‑AAACAACTGAAACTGATGAAAATGGTAAGTATCGCttt > 1:5113410/4‑100 (MQ=2) ctatGAAAAAGGTATTAAAGGTGTTAAAGTTACTTTAAAAGATAGTGAAGGTAACACATTA‑A‑AAACAACTGAAACTGATGAAAATGGTAAGTATCGCttc > 1:2022006/4‑99 (MQ=2) cccTGAAAAAGGTATTAAAGGTGTTAAAGTTACTTTAAAAGATAGTGAAGGTAACACATTA‑A‑AAACAACTGAAACTGATGAAAATGGTAAGTATCGCttt > 1:5096094/3‑100 (MQ=2) agatGAAAAAGGTATTAAAGGTGTTAAAGTTACTTTAAAAGATAGTGAAGGTAACACATTA‑A‑AAACAACTGAAACTGATGAAAATGGTAAGTATCGCttt > 1:2961382/4‑100 (MQ=2) gatGAAAAAGGTATTAAAGGTGTTAAAGTTACTTTAAAAGATAGTGAAGGTAACACATTA‑A‑AAACAACTGAAACTGATGAAAATGGTAAGTATCGCTTTg > 1:2683047/3‑100 (MQ=2) gatGAAAAAGGTATTAAAGGTGTTAAAGTTACTTTAAAAGATAGTGAAGGTAACACATTA‑A‑AAACAACTGAAACTGATGAAAATGGTAAGTATCGCTTTg > 1:521347/3‑100 (MQ=2) gatGAAAAAGGTATTAAAGGTGTTAAAGTTACTTTAAAAGATAGTGAAGGTAACACATTA‑A‑AAACAACTGAAACTGATGAAAATGGTAAGTATCGCTTTg > 1:4728751/3‑100 (MQ=2) gatGAAAAAGGTATTAAAGGTGTTAAAGTTACTTTAAAAGATAGTGAAGGTAACACATTA‑A‑AAACAACTGAAACTGATGAAAATGGTAAGTATCGCTTTg > 1:4460517/3‑100 (MQ=2) gatGAAAAAGGTATTAAAGGTGTTAAAGTTACTTTAAAAGATAGTGAAGGTAACACATTA‑A‑AAACAACTGAAACTGATGAAAATGGTAAGTATCGCTTTg > 1:441559/3‑100 (MQ=2) gatGAAAAAGGTATTAAAGGTGTTAAAGTTACTTTAAAAGATAGTGAAGGTAACACATTA‑A‑AAACAACTGAAACTGATGAAAATGGTAAGTATCGCTTTg > 1:3982069/3‑100 (MQ=2) gatGAAAAAGGTATTAAAGGTGTTAAAGTTACTTTAAAAGATAGTGAAGGTAACACATTA‑A‑AAACAACTGAAACTGATGAAAATGGTAAGTATCGCTTTg > 1:3633759/3‑100 (MQ=2) gatGAAAAAGGTATTAAAGGTGTTAAAGTTACTTTAAAAGATAGTGAAGGTAACACATTA‑A‑AAACAACTGAAACTGATGAAAATGGTAAGTATCGCTTTg > 1:3285052/3‑100 (MQ=2) gatGAAAAAGGTATTAAAGGTGTTAAAGTTACTTTAAAAGATAGTGAAGGTAACACATTA‑A‑AAACAACTGAAACTGATGAAAATGGTAAGTATCGCTTTg > 1:2980992/3‑100 (MQ=2) gatGAAAAAGGTATTAAAGGTGTTAAAGTTACTTTAAAAGATAGTGAAGGTAACACATTA‑A‑AAACAACTGAAACTGATGAAAATGGTAAGTATCGCTTTg > 1:1727864/3‑100 (MQ=2) cTGAAAAAGGTATTAAAGGTGTTAAAGTTACTTTAAAAGATAGTGAAGGTAACACATTA‑A‑AAACAACTGAAACTGATGAAAATGGTAAGTATCGCTTTGa > 1:4824275/1‑100 (MQ=255) tGAAAAAGGTATTAAAGGTGTTAAAGTTACTTTAAAAGATAGTGAAGGTAACACATTA‑A‑AAACAACTGAAACTGATGAAAATGGTAAGTATCGCTTTGAt > 1:1889856/1‑100 (MQ=2) tGAAAAAGGTATTAAAGGTGTTAAAGTTACTTTAAAAGATAGTGAAGGTAACACATTA‑A‑AAACAACTGAAACTGATGAAAATGGTAAGTATCGCTTTGAt > 1:3555046/1‑100 (MQ=2) tGAAAAAGGTATTAAAGGTGTTAAAGTTACTTTAAAAGATAGTGAAGGTAACACATTA‑A‑AAACAACTGAAACTGATGAAAATGGTAAGTATCGCTTTGAt > 1:289533/1‑100 (MQ=2) gAAAAAGGTATTAAAGGTGTTAAAGTTACTTTAAAAGATAGTGAAGGTAACACATTA‑A‑AAACAACTGAAACTGCTGAAAATGGTAAGTATCGCTTTGAtg > 1:3662364/1‑99 (MQ=2) gAAAAAGGTATTAAAGGTGTTAAAGTTACTTTAAAAGATAGTGAAGGTAACACATTA‑A‑AAACAACTGAAACTGATGAAAATGGTAAGTATCGCTTTGAtg > 1:6389444/1‑99 (MQ=2) gAAAAAGGTATTAAAGGTGTTAAAGTTACTTTAAAAGATAGTGAAGGTAACACATTA‑A‑AAACAACTGAAACTGATGAAAATGGTAAGTATCGCTTTGAtg > 1:2829124/1‑99 (MQ=2) gAAAAAGGTATTAAAGGTGTTAAAGTTACTTTAAAAGATAGTGAAGGTAACACATTA‑A‑AAACAACTGAAACTGATGAAAATGGTAAGTATCGCTTTGAtg > 1:498502/1‑99 (MQ=2) gAAAAAGGTATTAAAGGTGTTAAAGTTACTTTAAAAGATAGTGAAGGTAACACATTA‑A‑AAACAACTGAAACTGATGAAAATGGTAAGTATCGCTTTGAtg > 1:5696475/1‑99 (MQ=2) gAAAAAGGTATTAAAGGTGTTAAAGTTACTTTAAAAGATAGTGAAGGTAACACATTA‑A‑AAACAACTGAAACTGATGAAAATGGTAAGTATCGCTTTGAtg > 1:4656005/1‑99 (MQ=2) gAAAAAGGTATTAAAGGTGTTAAAGTTACTTTAAAAGATAGTGAAGGTAACACATTA‑A‑AAACAACTGAAACTGATGAAAATGGTAAGTATCGCTTTGAtg > 1:2895497/1‑99 (MQ=2) gAAAAAGGTATTAAAGGTGTTAAAGTTACTTTAAAAGATAGTGAAGGTAACACATTA‑A‑AAACAACTGAAACTGATGAAAATGGTAAGTATCGCTTTGAtg > 1:4225794/1‑99 (MQ=2) gAAAAAGGTATTAAAGGTGTTAAAGTTACTTTAAAAGATAGTGAAGGTAACACATTA‑A‑AAACAACTGAAACTGATGAAAATGGTAAGTATCGCTTTGAtg > 1:5450884/1‑99 (MQ=2) gAAAAAGGTATTAAAGGTGTTAAAGTTACTTTAAAAGATAGTGAAGGTAACACATTA‑A‑AAACAACTGAAACTGATGAAAATGGTAAGTATCGCTTTGAtg > 1:3048495/1‑99 (MQ=2) gAAAAAGGTATTAAAGGTGTTAAAGTTACTTTAAAAGATAGTGAAGGTAACACATTA‑A‑AAACAACTGAAACTGATGAAAATGGTAAGTATCGCTTTGAtg > 1:1367093/1‑99 (MQ=2) gAAAAAGGTATTAAAGGTGTTAAAGTTACTTTAAAAGATAGTGAAGGTAACACATTA‑A‑AAACAACTGAAACTGATGAAAATGGTAAGTAACGCTTTGAtg > 1:5546717/1‑99 (MQ=2) gAAAAAGGTATTAAAGGTGTTAAAGTTACTTTAAAAGATAGTGAAGG‑TAACACATT‑GAAAACAACTGAAACTGATGAAAATGGTAAGTATCGCTTTGAtg > 1:6053757/1‑99 (MQ=2) ccaaaaGGCATTAAAGGTGTTAAAGTTACTTTAAAAGATAGTGAAGGTAACACATTA‑A‑AAACAACTGAAACTGATGAAAATGGTAAGTATCGCTTTGAtg > 1:3029585/3‑99 (MQ=255) aaaaaGGTATTAAAGGTGTTAAAGTTACTTTAAAAGATAGTGAAGGTAACACATTA‑A‑AAACAACTGAAACTGATGAAAATGGTAAGTATCGCTTTGAtga > 1:1298781/1‑98 (MQ=255) aaaaGGTATTAAAGGTGTTAAAGTTACTTTAAAAGATATTGAAGG‑TAACAAATTAA‑AAACAACTGAAACTGATGAAAATGGTAAGTATCGCTTTGAtgac > 1:4295906/1‑97 (MQ=2) aaaaGGTATTAAAGGTGTTAAAGTTACTTTAAAAGATAGTGAAGGTAACACATTA‑A‑AAACAACTGAAACTGATGAAAATGGTAAGTATCGCTTTGAtgac > 1:5858651/1‑97 (MQ=2) aaaaGGTATTAAAGGTGTTAAAGTTACTTTAAAAGATAGTGAAGGTAACACATTA‑A‑AAACAACTGAAACTGATGAAAATGGTAAGTATCGCTTTGAtgac > 1:4329480/1‑97 (MQ=2) aaGGAATTAAAGGTGTTAAAGTTTCTTTGCAAAACGAAAAAGGCGATGTAATT‑G‑GGACAACTGAAACAGATGAAAATGGTAAATACCGCTTTGATAAttt < 1:4687864/100‑1 (MQ=255) aaaGGTGTTAAAGTTACTTTGCAAAACGAAAAAGGCGAAGTAATT‑G‑GTACAACTGAAACAGATGAAAATGGTAAATACCGCTTTGATAATTTAGATAGTg > 1:5408555/1‑100 (MQ=255) gtgCGAAGTAATT‑G‑GTACAACTGAAACAGATGAAAATGGTAAATACCGCTTTGATAATTTAGATAGTGGTAAATACAAAGTTATCTTTGAAAAACctgct > 1:109980/3‑100 (MQ=255) |||||| CAGTAATAAAGATGGTAAACAAGATTCGACTGAAAAAGGAATTAAAGGTGTTAAAGTTACTTTGCAAAACGAAAAAGGCGAAGTAATT‑G‑GTACAACTGAAACAGATGAAAATGGTAAATACCGCTTTGATAATTTAGATAGTGGTAAATACAAAGTTATCTTTGAAAAACCTGCT > NC_007793/612997‑613171 |
| Alignment Legend |
|---|
Aligned base mismatch/match (shaded by quality score): ATCG/ATCG < 3 ≤ ATCG/ATCG < 17 ≤ ATCG/ATCG < 32 ≤ ATCG/ATCG < 37 ≤ ATCG/ATCG < 39 ≤ ATCG/ATCG |
Unaligned base: atcg Masked matching base: atcg Alignment gap: ‑ Deleted base: ‑ |