| Predicted mutation | |||||||
|---|---|---|---|---|---|---|---|
| evidence | seq id | position | mutation | freq | annotation | gene | description |
| RA | BX571857 | 2,700,266 | A→G | 11.7% | S734S (AGT→AGC) | SAS2516 ← | fibrinogen and keratin‑10 binding surface anchored protein |
| Read alignment evidence... | |||||||||||
|---|---|---|---|---|---|---|---|---|---|---|---|
| seq id | position | ref | new | freq | score (cons/poly) | reads | annotation | genes | product | ||
| * | BX571857 | 2,700,266 | 0 | A | G | 11.7% | 242.0 / 6.8 | 80 | S734S (AGT→AGC) | SAS2516 | fibrinogen and keratin‑10 binding surface anchored protein |
| Reads supporting (aligned to +/- strand): ref base A (31/37); new base G (6/4); total (38/42) | |||||||||||
| Fisher's exact test for biased strand distribution p-value = 5.04e-01 | |||||||||||
| Kolmogorov-Smirnov test that lower quality scores support variant p-value = 1.00e+00 | |||||||||||
TGAGTCGCTGTCTGAGTCTGAGTCGCTGTCTGAGTCTGAATCGCTGTCTGAATCTGAATCGCTGTCTGAGTCTGAATCGCTATCTGAGTCTGAGTCACTGTCTGAATCTGACTCACTATCTGAATCTGAGTCGCTATCTGAGTCTGAGTCGCTGTCTGAGTCTGAATCGCTGTCTGAGTCTGAATCGCTATCT > BX571857/2700170‑2700362 | tgagtcgctgtctgagtctgagtcgctgtctgagtcTGAATCGCTGTCTGAGTCTGAATCGCTGTCTGAGTCTGAATCGCTATCTGAGTCTGAGTCa > 2:454246/1‑97 (MQ=255)tgagtcgctgtctgagtctgagtcgctgtctgagtcTGAATCGCTGTCTGAATCTGAATCGCTGTCTGAGTCTGAATCGCTATCTGAGTCTGAGTCa < 2:1168093/97‑1 (MQ=255)tgagtcgctgtctgagtctgagtcgctgtctgagtcTGAATCGCTGTCTGAATCTGAATCGCTGTCTGAGTCTGAATCGCTATCTGAGTCTGAGTCa < 1:1413137/97‑1 (MQ=255)tgagtcgctgtctgagtctgagtcgctgtctgagtcTGAATCGCTGTCTGAATCTGAATCGCTGTCTGAGTCTGAATCGCTATCTGAGTCTGAGTCa < 2:274789/97‑1 (MQ=255) gtcgctgtctgagtctgagtcgctgtctgagtctgaAACGGTGTCTGACTCAGAATCGCTGTCGGACTCACAATCGCTATCTGGGTCTGAGTCACta > 1:129368/1‑96 (MQ=17) tcgctgtctgagtctgagtcgctgtctgagtctgaATCGCTGTCTGAATCTGAATCGCTGTCTGAGTCTGAATCGCTATCTGAGTCTGAGTCACTGt < 1:55382/97‑1 (MQ=255) tcgctgtctgagtctgagtcgctgtctgagtctgaATCGCTGTCTGAATCTGAATCGCTGTCTGAGTCTGAATCGCTATCTGAGTCTGAGTCACTGt < 1:1325435/97‑1 (MQ=255) tcgctgtctgagtctgagtcgctgtcggagtgtgaTTCGCTGTCTGAATCTGAATCGCTGTCTGAGTCTGAGTCGCTATCTGAGTCTGAGTCACTGt < 2:523294/97‑1 (MQ=14) gctgtctgagtctgagtcgctgtctgagtctgaATCGCTGTCTGAATCTGAATCGCTGTCTGAGTCTGAATCGCTATCTGAGTCTGAGTCACTGTCt > 1:11930/1‑97 (MQ=255) ctgtctgagtctgagtcgctgtctgagtctgaATCGCTGTCTGAATCTGAATCGCTGTCTGAGTCTGAATCGCTATCTGAGTCTGAGTCGCGGTCTg > 2:303752/1‑97 (MQ=255) tgtctgagtctgagtcgctgtctgagtctggATCGCTGTCTGAATCTGAATCGCTGTCTGAGTCTGAATCGCTATCTGAGTCTGAGTCACTGTCTGa < 2:37277/97‑1 (MQ=255) tgtctgagtctgagtcgctgtctgagtctgaATCGCTGTCTGAATCTGAATCGCTGTCTGAGTCTGAATCGCTATCTGAGTCTGAGTCACTGTCTGa < 2:1339306/97‑1 (MQ=255) tgtctgagtctgagtcgctgtctgagtctgaATCGCTGTCTGAATCTGAATCGCTGTCTGAGTCTGAATCGCTATCTGAGTCTGACTCACTGTCTGa > 1:32408/1‑97 (MQ=255) tgtctgagtctgagtcgctgtctgagtctgaATCGCTGTCTGAATCTGAATCGCTGTCTGAGTCTGAATCGCTATCTGAGTCTGAATCACTATCTGa > 2:888643/1‑97 (MQ=255) tgtctgagtctgagtcgctgtctgagtctgaATCGCTGTCTGAATCTGAATCGCTGTCTGAGTCTGAATCGCTATCTGAGTCCGAGTCGCTGTCTGa > 2:1242750/1‑97 (MQ=255) tgtctgagtctgagtcgctgtctgagtctgaATCGCTGTCTGAATCTGAATCGCTGTCTGAGTCTGAATCGCTATCTGAGCCTGAGTCGCTGTCTgg > 2:1126683/1‑96 (MQ=255) tgtcagactctgagtcgctgccggagtctgaCCCGCTGTCTGAGTCTGAATCGATGTCCGAGTATGAATCGATATCTGTGTCTGAGTCACTGTCTGa < 2:259930/97‑1 (MQ=11) gtctgagtctgagtcgctgtctgagtctgagtcgctGTCTGAATCTGAATCGCTGTCTGAGTCTGAATCGCTATCTGAGTCTGAGTCACTGTCTGaa < 2:617618/97‑1 (MQ=255) tctgagtctgagtcgctgtctgagtctgaATCGCTGTCTGAATCTGAATCGCTGTCTGAGTCTGAATCGCTATCTGAGTCTGAGTCACTGTCTGAAt > 1:81555/1‑97 (MQ=255) ctgagtctgagtcgctgtctgagtctgaATCGCTGTCTGAATCTGAATCGCTGTCTGAGTCTGAATCGCTATCTGAGTCTGAGTCGCTGTCTGAATc > 2:581230/1‑97 (MQ=255) ctgagtctgagtcgctgtctgagtctgaATCGCTGTCTGAATCTGAATCGCTGTCTGAGTCTGAATCGCTATCTGAGTCTGAGTCACTGTCTGAATc > 1:972392/1‑97 (MQ=255) tgagtctgagtcgctgtctgagtctgaATCGCTGTCTGAATCTGAATCGCTGTCTGAGTCTGAATCGCTATCTGAGTCTGAGTCACTGTCTGAATCt < 2:592875/97‑1 (MQ=255) gagtctgagtcgctgtctgagtctgaATCGCTGTCTGAATCTGAATCGCTGTCTGAGTCTGAATCGCTATCTGAGTCTGAGTCACTGTCTGAATCTg < 1:667215/97‑1 (MQ=255) gagtcgctgtctgagtctgaGTCGCTGTCTGAATCTGAATCGCTGTCTGAGTCTGAATCGCTATCTGAGTCTGAGTCACTGTCTGAATCTGACTCAc < 2:1090169/97‑1 (MQ=255) gagtcgctgtctgagtctgaGTCGCTGTCTGAATCTGAATCGCTGTCTGAGTCTGAATCGCTATCTGAGTCTGAGTCACTGTCTGAATCTGACTCAc < 2:1051271/97‑1 (MQ=255) gagtcgctgtctgagtctgaATCGCTGTCTGAATCTGAATCGCTGTCTGAGTCTGAATCGCTATCTGAGTCTGAGTCACTGTCTGAATCTGACTCAc < 2:418991/97‑1 (MQ=255) gagtcgctgtctgagtctgaATCGCTGTCTGAATCTGAATCGCTGTCTGAGTCTGAATCGCTATCTGAGTCTGAGTCACTGTCTGAATCTGACTCAc < 1:1266619/97‑1 (MQ=255) gagtcgctgtctgagtctgaATCGCTGTCTGAATCTGAATCGCTGTCTGAGTCTGAATCGCTATCTGAGTCTGAGTCACTGTCTGAATCTGACTCAc < 1:99808/97‑1 (MQ=255) gagtcgctgtctgagtctgaATCGCTGTCTGAATCTGAATCGCTGTCTGAGTCTGAATCGCTATCTGAGTCTGAGTCACTGTCTGAATCTGACTCAc < 1:508872/97‑1 (MQ=255) gagtcgctgtctgagtctgaATCGCTGTCTGAATCTGAATCGCTGTCTGAGTCTGAATCGCTATCTGAGTCTGAGTCACTGTCTGAATCTGACTCAc < 2:848585/97‑1 (MQ=255) gtcgctgtctgagtctgaATCGCTGTCTGAATCTGAATCGCTGTCTGAGTCTGAATCGCTATCTGAGTCTGAGTCACTGTCTGAATCTGACTCACTa < 2:1257788/97‑1 (MQ=255) gtcgctgtctgagtctgaATCGCTGTCTGAATCTGAATCGCTGTCTGAGTCTGAATCGCTATCTGAGTCTGAGTCACTGTCTGAATCTGACTCACTa < 2:1130358/97‑1 (MQ=255) cgctgtctgagtctgaATCGCTGTCTGAATCTGAATCGCTGTCTGAGTCTGAATCGCTATCTGAGTCTGAGTCACTGTCTGAATCTGACTCACTatc < 2:650791/97‑1 (MQ=255) gctgtctgagtctgaATCGCTGTCTGAATCTGAATCGCTGTCTGAGTCTGAATCGCTATCTGAGTCCGAGTCACTGTCTGAATCTGGCTCACTatct > 1:1387737/1‑97 (MQ=255) ctgtctgagtctgaATCGCTGTCTGAATCTGAATCGCTGTCTGAGTCTGAATCGCTATCTGAGTCTGAGTCACTGTCTGAATCTGACTCACTatctg < 1:996371/97‑1 (MQ=255) gtctgagtctgaATCGCTGTCTGAATCTGAATCGCTGTCTGAGTCTGAATCGCTATCTGAGTCTGAGTCACTGTCTGAATCTGACTCACTatctgaa < 2:928224/97‑1 (MQ=255) tgagtctgaATCGCTGTCTGAATCTGAATCGCTGTCTGAGTCTGAATCGCTATCTGAGTCTGAGTCACTGTCTGAATCTGACTCACTatctgaatct < 2:450634/97‑1 (MQ=255) agtctgaATCGCTGTCTGAATCTGAATCGCTGTCTGAGTCTGAATCGCTATCTGAGTCTGAGTCACTGTCTGAATCTGACTCACTatctgaatctgg > 2:553148/1‑96 (MQ=255) agtctgaATCGCTGTCTGAATCTGAATCGCTGTCTGAGTCTGAATCGCTATCTGAGTCTGAGTCACTGTCTGAATCTGACTCACTatctgaatctga > 1:724873/1‑97 (MQ=255) gtctgaATCGCTGTCTGAATCTGAATCGCTGTCTGGGTCTGAATCGCTCTCTGAGCCTGAGTCACTGTCTGCATCTGCCGCCCCACCTGAATCTGAg > 2:258606/1‑97 (MQ=14) gtctgaATCGCTGTCTGAATCTGAATCGCTGTCTGAGTCTGAATCGCTATCTGAGTCTGAGTCACTGTCTGAATCTGACTCACTATCTGAATCTGAg < 2:691557/97‑1 (MQ=255) ctgaATCGCTGTCTGAATCTGAATCGCTGTCTGAGTCTGAATCGCTATCTGAGTCTGAGTCACTGTCTGAATCTGACTCACTATCTGAATCTGAGTc < 1:105246/97‑1 (MQ=255) ggatcgctgtctgagtctgaatcgctgtctgagtctgaATCGCTATCTGGGTCTGAGTCACTGTCTGAATCTGACTCACTATCTGAATCTGAGTCGc < 2:1290214/95‑1 (MQ=9) aaTCGCTGTCTGAATCTGAATCGCTGTCTGAGTCTGAATCGCTATCTGAGTCTGAGTCACTGTCTGAATCTGACTCACTATCTGAATCTGAGTCGCt < 1:1178266/97‑1 (MQ=40) cGCTGTCTGAATCTGAATCGCTGTCTGAGTCTGAATCGCTATCTGAGTCTGAGTCACTGTCTGAATCTGACTCACTATCTGAATCTGAGTCGCTAtc > 2:687670/1‑97 (MQ=38) gCTGTCTGAATCTGAATCGCTGTCTGAGACTGAATCGCTATCTGAGACTGAGTCCCTGTCTGAATCTGACTCACTATCTGATTCTGAGACGCTAtct > 1:446278/1‑97 (MQ=11) tGTCTGAATCTGAATCGCTGTCTGAGTCTGAATCGCTATCTGAGTCTGAGTCACTGTCTGAATCTGACTCACTatctg > 2:259546/1‑78 (MQ=40) tctgaatctgaaTCGCTGTCTGAGTCTGAATCGCTATCTGAGTCTGAGTCACTGTCTGAATCTGACTCACTATCTGAATCTGAGTCGCTAtctgagt > 2:124121/1‑97 (MQ=40) tctgaatctgaaTCGCTGTCGGAGGCTGAATCGCTATCTGAGTCTGAGTCGCTGTCTGAATCTGACTCACTATCTGAATCTGAGTCGCTAtctgagt < 2:1351718/97‑1 (MQ=255) tgaatctgagtcGCTGTCTGGGTCGGAATCGCTATCTGAGTCTGAGTCACGGTCTGAATCTGACTCACTATCTGAATCTGAGTCGCTAtctgagtct < 2:363105/97‑1 (MQ=14) atctgaatcGCTGTCTGAGTCTGAATCGCTATCTGAGTCTGAGTCACTGTCTGAATCTGACTCACTATCTGAATCTGAGTCGCTa > 1:168297/1‑85 (MQ=37) ctgaatcGCTGTCTGAGTCTGAATCGCTATCTGAGTCTGAGTCGCTGTCTGAATCTGACTCACTGTCTGAATCTGAGTCGCTATCtgagtctgagtc > 2:827427/1‑97 (MQ=255) ctgaatcGCTGTCTGAGTCTGAATCGCTATCTGAGTCTGAGTCACTGTCTGAATCTGACTCACTATCTGAATCTGAGTCGCTATCtgagtctgagtc < 2:686958/97‑1 (MQ=255) tgaatcGCTGTCTGAGTCTGAATCGCTATCTGAGTCTGAGTCACTGTCTGAATCTGACTCACTATCTGAATCTGAGTCGCTATCTGAGTCTGAGtcg > 1:497745/1‑97 (MQ=255) tgaatcGCTGTCTGAGTCTGAATCGCTATCTGAGTCTGAGTCACTGTCTGAATCTGACTCACTATCTGAATCTGAGTCGCTATCTGAGTCTGAGtcg > 1:52779/1‑97 (MQ=255) gaatcGCTGTCTGAGTCTGAGTCGCTATCTGAGTCTGAGTCACTGTCTGAATCTGACTCACTATCTGAATCTGAGTCGCTATCTGAGTCTGAGtcgc < 2:431654/97‑1 (MQ=255) aatcGCTGTCTGAGTCTGAATCGCTATCTGAGTCTGAGTCACTGTCTGAATCTGACTCACTATCTGAATCTGAGTCGCTATCTGAGTCTGAAtcgc > 2:4311/1‑96 (MQ=18) tcGCTGTCTGAGTCTGAATCGCTATCTGAGTCTGAGTCACTGTCTGAATCTGACTCACTATCTGAATCTGAGTCGCTATCTGAGTCTGAGtcgctgt > 1:1240051/1‑97 (MQ=255) gtctgggtctgaATCGCTATCTGAGTCTGAGTCACTGTCTGAATCTGACTCACTATCTGAATCTGAGTCGCTATCTGAGTCTGAGtcgctgtctgag < 2:1047599/97‑1 (MQ=255) gtctgagtctgaATCGCTATCTGAGTCTGAGTCACTGTCTGAATCTGACTCACTATCTGAATCTGAGTCGCTATCTGAGTCTGAGtcgctgtctgag > 1:216980/1‑97 (MQ=255) ctgagtctgaATCGCTATCTGAGTCTGAGTCACTGTCTGAATCTGACTCACTATCTGAATCTGAGTCGCTATCTGAGTCTGAGtcgctgtctgagtc > 2:117427/1‑97 (MQ=255) tgagtctgaATCGCTATCTGAGCCTGGGTCGCTGTCTGAATCTGACTCGCTATCTGATTCTGAGCCGCTGTCTGAGTCTGAGtcgctatctgagtct > 2:456145/1‑97 (MQ=11) agtctgaATCGCTATCTGAGTCTGAGTCACTGTCTGAATCTGACTCACTATCTGAATCTGAGTCGCTa > 2:528928/1‑68 (MQ=35) agtctgaATCGCTATCTGAGTCTGAGTCACTGTCTGAATCTGACTCACTATCTGAATCTGAGTCGCTATCTGAGTCTGAGtcgctgtctgagtctga < 2:1140641/97‑1 (MQ=255) ctgaATCGCTATCTGAGTCTGAGTCACTGTCTGAATCTGACTCACTATCTGAATCTGAGTCGCTa > 2:754958/1‑65 (MQ=37) gtCGCTATCTGAGTCTGAGTCCCTGTCTGAGTCTGTCTCGCTATCTGAATCGGAGTCGCTATCTGAGTCTGAGtcgctgtctgagtctgaatcgctg < 2:321624/96‑1 (MQ=14) cgcGCTCTCTGTGTCTGAGGCGCTGTCTGAGTCTGACTCACTAGCTGAATCCGAGTCGGTATCTGAGTCTGAGtcgctggctggttctgaatcgctg < 2:854958/95‑1 (MQ=14) aTCGCTATCTGAGTCTGAGTCACTGTCTGAATCTGACTCACTATCTGAATCGGAGTCGCTATCTGAGTCTGAGtcgctgtctgagtctgaatcgccg < 2:595019/97‑3 (MQ=255) tCGCTATCTGAGTCTGAGTCACTGTCTGAATCTGACTCACTATCTGAATCTGAGTCGCTATCTGAGTCTGCGtcgctgtctgagtctgaatcgctgt > 2:406495/1‑97 (MQ=255) cTATCTGAGTCTGAATCACTGTCTGAATCTGACTCACTATCTGAATCTGAGTCGCTATCTGAGTCTGAGccgctgactgagtctgaatcgctgtctg > 1:928633/1‑97 (MQ=255) aTCTGAGTCTGAGTCACTGTCTGAATCTGACTCACTATCTGAATCTGAGTCGCTATCTGAGTCTGAGtcgctgtctgagtctgaatcgctgtctgag > 2:325422/1‑97 (MQ=255) aTCTGAGTCTGAGTCACTGTCTGAATCTGACTCACTATCTGAATCTGAGTCGCTATCTGAGTCTGAGtcgctgtctgagtctgaatcgctgtctgag > 2:1013862/1‑97 (MQ=255) aTCTGAGTCTGAGTCACTGTCTGAATCTGACTCACTATCTGAATCTGAGTCGCTATCTGAGTCTGAGtcgctgtctgagtctgaatcgaggtctgag > 2:1063548/1‑97 (MQ=255) tctgagtctgagTCGCTGTCTGAATCTGAGTCACTATCTGAGTCTGAGTCGCTATCTGAGTCTGAGtcgctgtctgagtctgaatcgctggctgagt < 2:256019/97‑1 (MQ=14) gagtctgagtcACTGTCTGAATCTGACTCACTATCTGATTCTGAGTCGCGATCTGAGTCTGAGtcgctgtctgagtctgaatcgctgtctgagtctg < 1:762482/97‑1 (MQ=255) gagtctgagtcACTGTCTGAATCTGACTCACTATCTGAATCTGAGTCGCTATCTGAGTCTGAGtcgctgtctgagtctgaatcgctgtctgagtctg < 2:1343847/97‑1 (MQ=255) tgtctgcgtcGCTGTCTGAATCTGACTCACTGTCTGAATCTGAGTCGCTATCTGAGTCTGAGtcgctgtctgagtctgaatcgctgtctgagtctga < 2:1261346/96‑1 (MQ=14) agtctgagtcACTGTCTGAATCTGACTCACTATCTGAATCTGAGTCGCTATCTGAGTCTGAGtcgctgtctgagtctgaatcgctgtctgagtctgg > 2:113186/1‑96 (MQ=255) agtctgagtcACTGTCTGAATCTGACTCACTATCTGAATCTGAGTCGCTATCTGAGTCTGAGtcgctgtctgagtctgaatcgctgtctgagtctga > 2:959879/1‑97 (MQ=255) gtctgagtcACTGTCTGAATCTGACTCACTATCTGAATCTGAGTCGCTATCTGAGTCTGAGtcgctgtctgagtctgaatcgctgtctgagtctgaa < 1:536252/97‑1 (MQ=255) ctgggtcACTGTCTGAATCGGAGTCACTATCTGAATCTGAGTCGCTATCTGAGTCTGAGTCgctgtctgagtctgaatcgctgtctgagtctgaatc < 2:808693/97‑1 (MQ=255) ctgagtcACTGTCTGAATCTGACTCACTATCTGAATCTGAGTCGCTATCTGAGTCTGAGTCgctgtctgagtctgaatcgctgtctgagtctgaatc > 2:1058003/1‑97 (MQ=255) gtcACTGTCTGAATCTGACTCACTATCTGAATCTGAGTCGCTATCTGAGTCTGAGTCGCTGTCTGAGTCTGAATCGCTGTCTGAGTCTGAATCGCTa < 1:731374/97‑1 (MQ=255) cACTGTCTGAATCTGACTCACTATCTGAATCTGAGTCGCTATCTGAGTCTGAGTCGCTGTCtgagtctgaatcgctgtctgagtctgaatcgctgtc > 2:333189/1‑97 (MQ=255) aCTGTCTGAATCTGACTCACTATCTGAATCTGAGTCGCTATCTGAGTCTGAGTCGCTGTCTgagtctgaatcgctgtctgagtctgaatcgctgtct > 2:42270/1‑97 (MQ=255) aCTGTCTGAATCTGACTCACTATCTGAATCTGAGTCGCTATCTGAGTCTGAGTCGCTGTCTGAGTCTGAATCGCTGTCTGAGTCTGAATCGCTATCt < 1:397501/97‑1 (MQ=255) aCTGTCTGAATCTGACTCACTATCTGAATCTGAGTCGCTATCTGAGTCTGAGTCGCTGTCTGAGTCTGAATCGCTGTCTGAGTCTGAATCGCTATCt > 1:1069834/1‑97 (MQ=255) | TGAGTCGCTGTCTGAGTCTGAGTCGCTGTCTGAGTCTGAATCGCTGTCTGAATCTGAATCGCTGTCTGAGTCTGAATCGCTATCTGAGTCTGAGTCACTGTCTGAATCTGACTCACTATCTGAATCTGAGTCGCTATCTGAGTCTGAGTCGCTGTCTGAGTCTGAATCGCTGTCTGAGTCTGAATCGCTATCT > BX571857/2700170‑2700362 |
| Alignment Legend |
|---|
Aligned base mismatch/match (shaded by quality score): ATCG/ATCG < 3 ≤ ATCG/ATCG < 12 ≤ ATCG/ATCG < 22 ≤ ATCG/ATCG < 37 ≤ ATCG/ATCG < 41 ≤ ATCG/ATCG |
Unaligned base: atcg Masked matching base: atcg Alignment gap: ‑ Deleted base: ‑ |