| Predicted mutation | |||||||
|---|---|---|---|---|---|---|---|
| evidence | seq id | position | mutation | freq | annotation | gene | description |
| RA | Exported | 232,635 | T→C | 68.8% | N43D (AAC→GAC) | hemB ← | porphobilinogen synthase |
| Read alignment evidence... | |||||||||||
|---|---|---|---|---|---|---|---|---|---|---|---|
| seq id | position | ref | new | freq | score (cons/poly) | reads | annotation | genes | product | ||
| * | Exported | 232,635 | 0 | T | C | 68.8% | 118.4 / 69.7 | 93 | N43D (AAC→GAC) | hemB | porphobilinogen synthase |
| Reads supporting (aligned to +/- strand): ref base T (15/14); new base C (34/30); total (49/44) | |||||||||||
| Fisher's exact test for biased strand distribution p-value = 1.00e+00 | |||||||||||
| Kolmogorov-Smirnov test that lower quality scores support variant p-value = 9.94e-01 | |||||||||||
AATTTCGCGTGCCAGATGTTTCTCTGGAATGCGCATCACGCCTGGCATGGCTTCAACGGCTTTGTAGTTGTCAATTTCTTCTTCAACAAAGATCGGCAACACCAGGTCGTTAAGGCTAAGTGTTGTCTCTT > Exported/232567‑232697 | aaTTTCGCGTGCCAGATGTTTCTCTGGAATGCGCATCACGCCTGGCATGGCTTCAACGGCTTTGTAGTCGt > 1:5405356/1‑71 (MQ=255)aaTTTCGCGTGCCAGATGTTTCTCTGGAATGCGCATCACGCCTGCCATGGCTTCAACGGCTTTGTAGTCGt > 1:4266351/1‑71 (MQ=255) aTTTCGCGTGCCAGATGTTTCTCTGGAATGCGCATCACGCCTGGCATGGCTTCAACGGCTTTGTAGTTGTc < 1:4563783/71‑1 (MQ=255) tCGCGTGCCAGATGTTTCTCTGGAATGCGCATCACGCCTGGCATGGCTTCAACGGCTTTGTAGTTGTCAAt > 1:4087402/1‑71 (MQ=255) tCGCGTGCCAGATGTTTCTCTGGAATGCGCATCACGCCTGGCATGGCTTCAACGGCTTTGTAGTCGTCa > 1:1095751/1‑69 (MQ=255) tCGCGTGCCAGATGTTTCTCTGGAATGCGCATCACGCCTGGCATGGCTTCAACGGCTTTGTAGTCGTCAAt > 1:1801824/1‑71 (MQ=255) cgcgTGCCAGATGTTTCTCTGGAATGCGCATCACGCCTGGCATGGCTTCAACGGCTTTGTAGTCGTCAAtt > 1:4120928/1‑71 (MQ=255) gcgTGCCAGATGTTTCTCTGGAATGCGCATCACGCCTGGCATGGCTTCAACGGCTTTGTAGTCGTCAAttt < 1:3550750/71‑1 (MQ=255) gcgTGCCAGATGTTTCTCTGGAATGCGCATCACGCCTGGCATGGCTTCAACGGCTTTGTAGTCGTCAAtt > 1:1979211/1‑70 (MQ=255) gATGTTTCTCTGGAATGCGCATCACGCCTGGCATGGCTTCAACGGCTTTGTAGTCGTCAAtt > 1:152616/1‑62 (MQ=255) gTTTCTCTGGAATGCGCATCACGCCTGGCATGGCTTCAACGGCTTTGTAGTTGTCAAt > 1:4810901/1‑58 (MQ=255) gTTTCTCTGGAATGCGCATCACGCCTGGCATGGCTTCAACGGCTTTGTAGTTGTCAAt > 1:4611388/1‑58 (MQ=255) gTTTCTCTGGAATGCGCATCACGCCTGGCATGGCTTCAACGGCTTTGTAGTTGTCAAt > 1:1016045/1‑58 (MQ=255) gTTTCTCTGGAATGCGCATCACGCCTGGCATGGCTTCAACGGCTTTGTAGTCGTCAATttattgt > 1:2963629/1‑63 (MQ=255) tttCTCTGGAATGCGCATCACGCCTGGCATGGCTTCAACGGCTTTGTAGTCGTCAATttcttct < 1:5277978/64‑1 (MQ=255) tttCTCTGGAATGCGCATCACGCCTGGCATGGCTTCAACGGCTTTGTAGTCGTCAATttcttct < 1:4109553/64‑1 (MQ=255) tttCTCTGGAATGCGCATCACGCCTGGCATGGCTTCAACGGCTTTGTAGTCGTCAATTTCTTCTTcaacaa < 1:23441/71‑1 (MQ=255) ttCTCTGGAATGCGCATCACGCCTGGCATGGCTTCAACGGCTTTGTAGTCGTCAATTTCTTCTTcaaca > 1:2138443/1‑69 (MQ=255) ttCTCTGGAATGCGCATCACGCCTGGCATGGCTTCAACGGCTTTGTAGTCGTCAATTTCTTCTTcaaca > 1:3980145/1‑69 (MQ=255) tctcTGGAATGCGCATCACGCCTGGCATGGCTTCAACGGCTTTGTAGTCGTCAATttct > 1:5601233/1‑59 (MQ=255) tctcTGGAATGCGCATCACGCCTGGCATGGCTTCAACGGCTTTGTAGTCGTCAATTTCTTCTTCAACaaa < 1:4244427/70‑1 (MQ=255) ctctGGAATGCGCATCACGCCTGGCATGGCTTCAACGGCTTTGTAGTCGTCAATTTCTTCTTCAACAAAg < 1:188419/70‑1 (MQ=255) ctctGGAATGCGCATCACGCCTGGCATGGCTTCAACGGCTTTGTAGTCGTCAATTTCTTCTTCAACAAAg < 1:1396649/70‑1 (MQ=255) ctctGGAATGCGCATCACGCCTGGCATGGCTTCAACGGCTTTGTAGTCGTCAATTTCTTCTTCAACAAAg < 1:912588/70‑1 (MQ=255) ctctGGAATGCGCATCACGCCTGGCATCGCTTCAACGGCTTTGTAGTTGTCAATTTCTTCTTCAACAAAg < 1:3635912/70‑1 (MQ=255) tGGAATGCGCATCACGCCTGGCATGGCTTCAACGGCTTTGTAGTCGTCAATTTCTTCTTCAACAAAGAt < 1:3480093/69‑1 (MQ=255) gAATGCGCATCACGCCTGGCATGGCTTCAACGGCTTTGTAGTTGTCAATTTCTTCTTCAACAAAGATCGGc < 1:4432667/71‑1 (MQ=255) gAATGCGCATCACGCCTGGCATGGCTTCAACGGCTTTGTAGTCGTCAATTTCTTCTTCAACAAAGATc < 1:1844051/68‑1 (MQ=255) gAATGCGCATCACGCCTGGCATGGCTTCAACGGCTTTGTAGTCGTCAATTTCTTCTTCAACAAAGATc < 1:2861875/68‑1 (MQ=255) gAATGCGCATCACGCCTGGCATGGCTTCAACGGCTTTGTAGTCGTCAATTTCTTCTTCAACAAAGATCgg < 1:3412635/70‑1 (MQ=255) gAATGCGCATCACGCCTGGCATGGCTTCAACGGCTTTGTAGTCGTCAATTTCTTCTTCAACAAAGATCgg > 1:1783987/1‑70 (MQ=255) gAATGCGCATCACGCCTGGCATGGCTTCAACGGCTTTGTAGTCGTCAATTTCTTCTTCAACAAAGATCGGc < 1:1205857/71‑1 (MQ=255) gAATGCGCATCACGCCTGGCATGGCTTCAACGGCTTTGTAGTCGTCAATTTCTTCTTCAACAAAGATCGGc < 1:1515407/71‑1 (MQ=255) gcgcATCACGCCTGGCATGGCTTCAACGGCTTTGTAGTCGTCAATTTCTTCTTCAACAAAGATCGGCAacc > 1:4383998/1‑70 (MQ=255) gcATCACGCCTGGCATGGCTTCAACGGCTTTGTAGTTGTCAAt < 1:628457/43‑1 (MQ=255) gcATCACGCCTGGCATGGCTTCAACGGCTTTGTAGTTGTCAAt < 1:581410/43‑1 (MQ=255) cATCACGACTGGCATGGCTTCAACGGCTTTGTAGTCGTCAATTTATTCTTgaacaa > 1:3673561/1‑56 (MQ=255) aTCACGCCTGGCATGGCTTCAACGGCTTTGTAGTCGTCAATttc > 1:2851825/1‑44 (MQ=255) cACGCCTGGCATGGCTTCAACGGCTTTGTAGTCGTCAATTTCTTCTTCAACAAAGATCGGCAACAcc < 1:423061/67‑1 (MQ=255) aCGCCTGGCATGGCTTCAACGGCTTTGTAGTTGTCAATTTCTTCTTCAACAAAGAt > 1:376777/1‑56 (MQ=255) aCGCCTGGCATGGCTTCAACGGCTTTGTAGTTGTCAATTTCTTCTTCAACAAAGAt > 1:4564767/1‑56 (MQ=255) aCGCCTGGCATGGCTTCAACGGCTTTGTAGTTGTCAATTTCTTCTTCAACAAAGATCGGCAACACCa > 1:3246852/1‑67 (MQ=255) aCGCCTGGCATGGCTTCAACGGCTTTGTAGTTGTCAATTTCTTCTTCAACAAAGATCGGCAACACCa > 1:3881994/1‑67 (MQ=255) aCGCCTGGCATGGCTTCAACGGCTTTGTAGTTGTCAATTTCTTCTTCAACAAAGATCGGCAACACCa > 1:190843/1‑67 (MQ=255) aCGCCTGGCATGGCTTCAACGGCTTTGTAGTTGTCAATTTCTTCTTCAACAAAGATCGGCAACACCAGGTc > 1:3083669/1‑71 (MQ=255) aCGCCTGGCATGGCTTCAACGGCTTTGTAGTCGTCa > 1:2847440/1‑36 (MQ=255) cGCCTGGCATGGCTTCAACGGCTTTGTAGTCGTCAAttt > 1:3260194/1‑39 (MQ=255) cGCCTGGCATGGCTTCAACGGCTTTGTAGTCGTCAATttcttct > 1:4559879/1‑44 (MQ=255) cGCCTGGCATGGCTTCAACGGCTTTGTAGTCGTCAATttcttct > 1:1949969/1‑44 (MQ=255) cGCCTGGCATGGCTTCAACGGCTTTGTAGTCGTCAATTTCTTCTTCAACAAAGa > 1:4907431/1‑54 (MQ=255) cGCCTGGCATGGCTTCAACGGCTTTGTAGTCGTCAATTTCTTCTTCAACAAAGATCGGCaa > 1:3056499/1‑61 (MQ=255) cGCCTGGCATGGCTTCAACGGCTTTGTAGTCGTCAATTTCTTCTTCAACAAAGATCGGCaa > 1:2782293/1‑61 (MQ=255) gtGGCATGGCTTCAACGGCTTTGTAGTCGTCAATttct < 1:2690655/37‑1 (MQ=39) tGGCATGGCTTCAACGGCTTTGTAGTCGTCAATTTCTTCTTCAACAAAGATc < 1:2095737/52‑1 (MQ=255) tGGCATGGCTTCAACGGCTTTGTAGTCGTCAATTTCTTCTTCAACAAAGATc < 1:2131183/52‑1 (MQ=255) gCATGGCTTCAACGGCTTTGTAGTTGTCAATTTCTTCTTCAACAAAGATCGGCAACACCAGGTCGTTAAgg > 1:198589/1‑71 (MQ=255) aTGGCTTCAACGGCTTTGTAGTTGTCAATttcttctt < 1:3850320/37‑1 (MQ=255) aTGGCTTCAACGGCTTTGTAGTTGTCAATttcttctt < 1:1335355/37‑1 (MQ=255) aTGGCTTCAACGGCTTTGTAGTTGTCAATttcttctt < 1:4949509/37‑1 (MQ=255) aTGGCTTCAACGGCTTTGTAGTTGTCAATTTCTTCTTCAACAAAGATCGGc < 1:2067529/51‑1 (MQ=255) aTGGCTTCAACGGCTTTGTAGTTGTCAATTTCTTCTTCAACAAAGATCGGCAACACCAGGTCGTTAAGGCt < 1:5128649/71‑1 (MQ=255) tGGCTTCAACGGCTTTGTAGTTGTCAATTTCTTCTTCAACAAAGAt > 1:5117710/1‑46 (MQ=255) tGGCTTCAACGGCTTTGTAGTTGTCAATTTCTTCTTCAACAAAGAt > 1:4658717/1‑46 (MQ=255) tGGCTTCAACGGCTTTGTAGTTGTCAATTTCTTCTTCAACAAAGATCGGCAACACCAGGTCGTTAAGGCt > 1:1113369/1‑70 (MQ=255) gCTTCAACGGCTTTGTAGTCGTCAATTTCTTCTTCAACAAAGATCg > 1:3345436/1‑46 (MQ=255) ttCAACGGCTTTGTAGTCGTCAATTTCTTCTTcaaca < 1:229653/37‑1 (MQ=255) ttCAACGGCTTTGTAGTCGTCAATTTCTTCTTcaaca < 1:5565741/37‑1 (MQ=255) tCAACGGCTTTGTAGTTGTCAATTTCTTCTTCAACAAAg < 1:102546/39‑1 (MQ=255) tCAACGGCTTTGTAGTTGTCAATTTCTTCTTCAACAAAg < 1:3556997/39‑1 (MQ=255) tCAACGGCTTTGTAGTCGTCAATTTCTTCTTcaaca < 1:3625885/36‑1 (MQ=255) tCAACGGCTTTGTAGTCGTCAATTTCTTCTTCAACAAAGATCGGCaa < 1:4142705/47‑1 (MQ=255) tCAACGGCTTTGTAGTCGTCAATTTCTTCTTCAACAAAGATCGGCaa < 1:4266759/47‑1 (MQ=255) tCAACGGCTTTGTAGTCGTCAATTTCTTCTTCAACAAAGATCGGCAACACCAGGTCGTTAAGGCTAAgt < 1:3697772/69‑1 (MQ=255) tCAACGGCTTTGTAGTCGTCAATTTCTTCTTCAACAAAGATCGGCAACACCAGGTCGTTAAGGCTAAgt < 1:1126269/69‑1 (MQ=255) cAACGGCTTTGTAGTCGTCAATTTCTTCTTCAACAAAGAt > 1:89574/1‑40 (MQ=255) aaCGGCTTTGTAGTTGTCAATTTCTTCTTCAACAAAGATCGGCAACACCAGGTCGTTAAGGCTAAGtgtt < 1:3592445/70‑1 (MQ=255) aaCGGCTTTGTAGTCGTCAATTTCTTCTTCAACaaa > 1:5189580/1‑36 (MQ=255) aaCGGCTTTGTAGTCGTCAATTTCTTCTTCAACAAAg < 1:4775406/37‑1 (MQ=255) aaCGGCTTTGTAGTCGTCAATTTCTTCTTCAACAAAg < 1:5022212/37‑1 (MQ=255) aaCGGCTTTGTAGTCGTCAATTTCTTCTTCAACAAAGa > 1:1908298/1‑38 (MQ=255) aaCGGCTTTGTAGTCGTCAATTTCTTCTTCAACAAAGATCGGCAACACCAg > 1:5244125/1‑51 (MQ=255) aaCGGCTTTGTAGTCGTCAATTTATTCTTCAACaaa > 1:1081675/1‑36 (MQ=37) aaCGGCTTTGTAGTCGTCAATTTATTCTTCAACAAAGATCGGCAACCCCAg > 1:807426/1‑51 (MQ=255) aCGGCTTTGTAGTTGTCAATTTCTTCTTCAACAAAGATCGGCaa > 1:3652602/1‑44 (MQ=255) aCGGCTTTGTAGTCGTCAATTTCTTCTTCAACAAAGATCGGCAACCCCAGGTCGTTAAGGCGAAgt > 1:2032454/1‑66 (MQ=255) aCGGCTTTGTAGTCGTCAATTTCTTCTTCAACAAAGATCGGCAACACCAGGTCGTTAAGGCTAAgt > 1:1859261/1‑66 (MQ=255) cGGCTTTGTAGTCGTCAATTTCTTCTTCAACAAAGAt > 1:2251739/1‑37 (MQ=255) ggCTTTGTAGTCGTCAATTTCTTCTTCAACAAAGATCGGCAACACCAGGTCGTTAAGGCTAAGTGTTGtct < 1:3069432/71‑1 (MQ=255) gCTTTGTAGTCGTCAATTTCTTCTTCAACAAAGATCGGc < 1:175337/39‑1 (MQ=255) gCTTTGTAGTCGTCAATTTCTTCTTCAACAAAGATCGGc < 1:2583183/39‑1 (MQ=255) gTAGTTGTCAATTTCTTCTTCAACAAAGATCGGCAACACCAGGTCGTTAAGGCTAAGTGTTGTCTCtt < 1:5323720/68‑1 (MQ=255) gTAGTCGTCAATTTCTTCTTCAACAAAGATCGGCAACACCAGGTCGTTa > 1:1651639/1‑49 (MQ=255) gTAGTCGTCAATTTCTTCTT‑AACAAAGATCGGCAACACCAGGTCGTTa > 1:1603828/1‑48 (MQ=37) ttGTCAATTTCTTCTTCAACAAAGATCGGCAACACCAGGTCGTTAAGGCTaa < 1:124558/52‑1 (MQ=255) ttGTCAATTTCTTCTTCAACAAAGATCGGCAACACCAGGTCGTTAAGGCTaa < 1:1426960/52‑1 (MQ=255) | AATTTCGCGTGCCAGATGTTTCTCTGGAATGCGCATCACGCCTGGCATGGCTTCAACGGCTTTGTAGTTGTCAATTTCTTCTTCAACAAAGATCGGCAACACCAGGTCGTTAAGGCTAAGTGTTGTCTCTT > Exported/232567‑232697 |
| Alignment Legend |
|---|
Aligned base mismatch/match (shaded by quality score): ATCG/ATCG < 3 ≤ ATCG/ATCG < 14 ≤ ATCG/ATCG < 32 ≤ ATCG/ATCG < 36 ≤ ATCG/ATCG |
Unaligned base: atcg Masked matching base: atcg Alignment gap: ‑ Deleted base: ‑ |