Predicted mutation | |||||||
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evidence | seq id | position | mutation | freq | annotation | gene | description |
RA | NC_000913_3_hsa_tpiA | 1,182,882 | C→T | 7.2% | A247T (GCC→ACC) | potC ← | spermidine/putrescine ABC transporter permease |
Read alignment evidence... | |||||||||||
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seq id | position | ref | new | freq | score (cons/poly) | reads | annotation | genes | product | ||
* | NC_000913_3_hsa_tpiA | 1,182,882 | 0 | C | T | 7.2% | 162.3 / 4.2 | 56 | A247T (GCC→ACC) | potC | spermidine/putrescine ABC transporter permease |
Reads supporting (aligned to +/- strand): ref base C (27/24); new base T (2/2); total (30/26) | |||||||||||
Fisher's exact test for biased strand distribution p-value = 1.00e+00 | |||||||||||
Kolmogorov-Smirnov test that lower quality scores support variant p-value = 4.82e-01 |
TAGAAATACAGCGTGTTGTTGTCATCGGCGTGAGCGGCGCTCATGCCCAGTGCCAGAGCACCCGCCGCGAGCAGGTGGCGTGACCATTTTTTCATTTAACGTCCCCTGTGTTACCTTTCGTTTTATCACGAGCAATAAGCTGGCTGGCAATAACCATCACCAGCGACAGCACCAGTAATATGGTTGCCAGCGCGTTAACTTCCGGCGATACGCCGACTTTGACCATCGAATAAATTTTTAACGGCAGAATTTCATAACTTGGTCCGGTGACGAACGAAGAAACTACCACATCGTCC > NC_000913_3_hsa_tpiA/1182735‑1183030 | tAGAAATACAGCGTGTTGTTGTCATCGGCGTGAGCGGCGCTCATGCCCAGTGCCAGAGCACCCGCCGCGAGCAGGTGGCGTGACCATTTTTTCATTTAACGTCCCCTGTGTTACCTTTCGTTTTATCACGAGCAATAAGCTGGCTGGCaa > 2:134185/1‑150 (MQ=255) aaaTACAGCGTGTTGTTGTCATCGGCGTGAGCGGCGCTCATGCCCAGTGCCAGAGCACCCGCCGCGAGCAGGTGGCGTGACCATTTTTTCATTTAACGTCCCCTGTGTTACCTTTCGTTTTATCACGAGCAATAAGCTGGCTGGCAATaa < 1:376661/150‑1 (MQ=255) aaTACAGCGTGTTGTTGTCATCGGCGTGAGCGGCGCTCATGCCCAGTGCCAGAGCACCCGCCGCGAGCAGGTGGCGTGACCATTTTTTCATTTAACGTCCCCTGTGTTACCTTTCGTTTTATCACGAGCAATAAGCTGGCTGGCAATAAc < 2:325118/150‑1 (MQ=255) aaTACAGCGTGTTGTTGTCATCGGCGTGAGCGGCGCTCATGCCCAGTGCCAGAGCACCCGCCGCGAGCAGGTGGCGTGACCATTTTTTCATTTAACGTCCCCTGTGTTACCTTTCGTTTTATCACGAGCAATAAGCTGGCTGGCAATAAc < 3:37362/150‑1 (MQ=255) tACAGCGTGTTGTTGTCATCGGCGTGAGCGGCGCTCATGCCCAGTGCCAGAGCACCCGCCGCGAGCAGGTGGCGTGACCATTTTTTCATTTAACGTCCCCTGTGTTACCTTTCGTTTTATCACGAGCAATAAGCTGGCTGGCAATAACCa > 1:560745/1‑150 (MQ=255) aCAGCGTGTTGTTGTCATCGGCGTGAGCGGCGCTCATGCCCAGTGCCAGAGCGCCCGCCGCGAGCAGGTGGCGTGACTATTTTTTCATTTAACGTCCCCTGTGTTACCTTTCGTTTTATCACGAGCAATAAGCTGGCTGGCAATAACCAt < 2:243454/150‑1 (MQ=255) tgttgttgtCATCGGCGTGAGCGGCGCTCATGCCCAGTGCCAGAGCACCCGCCGCGAGCAGGTGGCGTGACCATTTTTTCATTTAACGTCCCCTGTGTTACCTTTCGTTTTATCACGAGCAATAAGCTGGCTGGCAATAACCATCACCAg > 2:411658/1‑150 (MQ=255) gttgtCATCGGCGTGAGCGGCGCTCATGCCCAGTGCCAGAGCACCCGCCGCGAGCAGGTGGCGTGACCATTTTTTCATTTAACGTCCCCTGTGTTACCTTTCGTTTTATCACGAGCAATAAGCTGGCTGGCAATAACCATCACCAGCGAc < 3:375968/150‑1 (MQ=255) tCGGCGTGAGCGGCGCTCATGCCCAGTGCCAGAGCACCCGCCGCGAGCAGGTGGCGTGACCATTTTTTCATTTAACGTCCCCTGTGTTACCTTTCGTTTTATCACGCGCAATAAGCTGGCTGGCAATAACCATCACCAGCGCCAGCaacc > 2:17550/1‑147 (MQ=255) gCGTGAGCGGCGCTCATGCCCAGTGCCAGAGCACCCGCCGCGAGCAGGTGGCGTGACCATTTTTTCTTTTTTTTTCCCCTGGGAGACCTTTCGTTTTATCGCGAGCAATAAGCTGGGTGGCAATGACGACCCCCAGCGACTGCACCAGTa > 4:314861/1‑150 (MQ=255) gcgcTCATGCCCAGTGCCAGAGCACCCGCCGCGAGCAGGTGGCGTGACCATTTTTTCATTTAACGTCCCCTGTGTTACCTTTCGTTTTATCACGAGCAATAAGCTGGCTGGCAATAACCATCACCAGCGACAGCACCAGTAATATGGTTg < 3:281729/150‑1 (MQ=255) cATGCCCAGTGCCAGAGCACCCGCCGCGAGCAGGTGGCGTGACCATTTTTTCATTTAACTTCTCCGGTGTTACCTTTCGTTTTATCACGAGCAATAAGCTAGCTGGAAATAACCATCACCAGCGACAGCACCAGTAGTGAGGTTGCCAgc > 4:48676/1‑150 (MQ=255) ccAGTGCCAGAGCACCCGCCGCGAGCAGGTGGCGTGACCATTTTTTCATTTAACGTCCCCTGTGTTACCTTTCGTTTTATCACGAGCAATAAGCTGGCTGGCAATAACCATCACCAGCGACAGCACCAGTAATATGGTTGCCAGCGCGtt > 2:456349/1‑150 (MQ=255) aGTGCCAGAGCACCCGCCGCGAGCAGGTGGCGTGACCATTTTTTCATTTAACGTCCCCTGTGTTACCTTTCGTTTTATCACGAGCAATAAGCTGGCTGGCAATAACCATCACCAGCGACAGCACCAGTAATATGGTTGCCAGCGCGTTaa > 3:249265/1‑150 (MQ=255) aGTGCCAGAGCACCCGCCGCGAGCAGGTGGCGTGACCATTTTTTCATTTAACGTCCCCTGTGTTACCTTTCGTTTTATCACGAGCAATAAGCTGGCTGGCAATAACCATCACCAGCGACAGCACCAGTAATATGGTTGCCAGCGCGTTaa < 2:372694/150‑1 (MQ=255) gTGCCAGAGCACCCGCCGCGAGCAGGTGGCGTGACCATTTTTTCATTTAACGTCCCCTGTGTTACCTTTCGTTTTATCACGAGCAATAAGCTGGCTGGCAATAACCATCACCAGCGACAGCACCAGTAATATGGTTGCCAGCGCGTTAAc < 1:471954/150‑1 (MQ=255) gCCAGAGCACCCGCCGCGAGCAGGTGGCGTGACCATTTTTTCATTTAACGTCCCCTGTGTTACCTTTCGTTTTATCACGAGCAATAAGCTGGCTGGCAATAACCATCACCAGCGACAGCACCAGTAATATGGTTGCCAGCGCGTTAACtt < 2:548116/150‑1 (MQ=255) gagCACCCGCCGCGAGCAGGTGGCGTGCCCATTTTTTCATTTAACGTCCCCTGTGTTACCTTTCGTTTTATCACGAGCAATAAGCTGGCTGGCAATAACCATCACCAGCGANAGCACCAGTAATNTGGTTGCCAGCGCGTTAACTTCCgg < 1:576186/150‑1 (MQ=255) gagCACCCGCCGCGAGCAGGTGGCGTGACCATTTTTTCATTTAACGTCCCCTGTGTTACCTTTCGTTTTATCACGAGCAATAAGCTGGCTGGCAATAACCATCACCAGCGACAGCACCAGTAATATGGTTGCCAGCGCGTTAACTTCCgg < 2:552332/150‑1 (MQ=255) gagCACCCGCCGCGAGCAGGTGGCGTGACCATTTTTTCATTTAACGTCCCCTGTGTTACCTTTCGTTTTATCACGAGCAATAAGCTGGCTGGCAATAACCATCACCAGCGACAGCACCAGTAATATGGTTGCCAGCGCGTTAACTTCCgg > 3:196723/1‑150 (MQ=255) agCACCCGCCGCGAGCAGGTGGCGTGACCATTTTTTCATTTAACGTCCCCTGTGTTACCTTTCGTTTTATCACGAGCAATAAGCTGGCTGGTAATAACCATCACCAGCGACAGCACCAGTAATATGGTTGCCAGCGCGTTAACTTCCGGc > 4:381442/1‑150 (MQ=255) agCACCCGCCGCGAGCAGGTGGCGTGACCATTTTTTCATTTAACGTCCCCTGTGTTACCTTTCGTTTTATCACGAGCAATAAGCTGGCTGGTAATAACCATCACCAGCGACAGCACCAGTAATATGGTTGCCAGCGCGTTAACTTCCGGc > 4:381465/1‑150 (MQ=255) cACCCGCCGCGAGCAGGTGGCGTGACCATTTTTTCATTTAACGTCCCCTGTGTTACCTTTCGTTTTATCACGAGCAATAAGCTGGCTGGCAATAACCATCACCAGCGACAGCACCAGTAATATGGTTGCCAGCGCGTTAACTTCCGGCGa < 4:296048/150‑1 (MQ=255) cccGCCGCGAGCAGGTGGCGTGACCATTTTTTCATTTAACGTCCCCTGTGTTACCTTTCGTTTTATCACGAGCAATAAGCTGGCTGGCAATAACCATCACCAGCGACAGCACCAGTAATATGGTTGCCAGCGCGTTAACTTCCGGCGATa < 2:62229/150‑1 (MQ=255) ccgcGAGCAGGTGGCGTGACCATTTTTTCATTTAACGTCCCCTGTGTTACCTTTCGTTTTATCACGAGCAATAAGCTGGCTGGCAATAACCATCACCAGCGACAGCACCAGTAATATGGTTGCCAGCGCGTTAACTTCCGGCGATCCGcc > 2:99699/1‑150 (MQ=255) gCAGGTGGCGTGACCATTTTTTCATTTAACGTCCCCTGTGTTACCTTTCGTTTTATCACGAGCAATAAGCTGGCTGGCAATAACCATCACCAGCGACAGCACCAGTAATATGGTTGCCAGCGCGTTAACTTCCGGCGATACGCCGACttt > 1:555491/1‑150 (MQ=255) cAGGTGGCGTGACCATTTTTTCATTTAACGTCCCCTGTGTTACCTTTCGTTTTATCACGAGCAATAAGCTGGCTGGCAATAACCATCACCAGCGACAGCACCAGTAATATGGTTGCCAGCGCGTTAACTTCCGGCGATACGCCGACTTTg > 3:198501/1‑150 (MQ=255) gTGACCATTTTTTCATTTAACGTCCCCTGTGTTACCTTTCGTTTTATCACGAGCAATAAGCTGGCTGGCAATAACCATCACCAGCGACAGCACCAGTAATATGGTTGCCAGCGCGTTAACTTCCGGCGATACGCCGACTTTGACCATCGa < 1:307393/150‑1 (MQ=255) tGACCATTTTTTTTTTTTTTTTCCCCTGTGTGACCTCGCGTTATATCACGAACAATAAGCTGGCTGGCAATAAGGATCACCCGCGACAGCACCAGCAATATTTTTTCCTGCTCGTTAACTTCCGGCGATACGACGACTTTGACCATCGaa > 2:83337/1‑150 (MQ=255) aCCATTTTTTTATTTAACTTCACCTGTGTTACCTTTCGTTTTATCACGAGCAATAAGCTGGCTGGCAATAACCATCACCAGCGACAGCACCAGTAATATGGTTGCCAGCGCGTTAACTTCCGGCGATACGCCGACTTTGACCATCGAATa > 2:445901/1‑150 (MQ=255) aCCATTTTTTCATTTAACGTCCCCTGTGTTACCTTTCGTTTTATCACGAGCAATAAGCTGGCTGGCAATAACCATCACCAGCGACAGCACCAGTAATATGGTTGCCAGCGCGTTAACTTCCGGCGATACGCCGACTTTGACCATCGAATa > 2:86678/1‑150 (MQ=255) aCCATTTTTTCATTTAACGTCCCCTGTGTTACCTTTCGTTTTATCACGAGCAATAAGCTGGCTGGCAATAACCATCACCAGCGACAGCACCAGTAATATGGTTGCCAGCGCGTTAACTTCCGGCGATACGCCGACTTTGACCATCGAATa > 1:418002/1‑150 (MQ=255) aTTTTTTCATTTAACTTCCCCTGAGTTACCTTTCGTTTTATCACGAGCAATAACCTGGCTGGCAATAACCATCACCAGCGACAGCACCAGTAATATGGTTGCCAGCGCGTTAACTTCCGGCGATACGCCGACTTTGACCATCCAATAAAt > 4:241708/1‑150 (MQ=255) aTTTTTTCATTTAACGTCCCCTGTGTTACCTTTCGTTTTATCACGAGCAATAAGCTGGCTGGCAATAACCATCACCAGCGACAGCACCAGTAATATGGTTGCCAGCGCGTTAACTTCCGGCGATACGCCGACTTTGACCATCGAATAAAt > 1:64225/1‑150 (MQ=255) tCATTTAACGTCCCCTGTGTTACCTTTCGTTTTATCACGAGCGATAAGCTGGCTGGCAATAACCATCACCAGCGACAGCACCAGTAATATGGTTGCCAGCGCGTTAACTTCCGGCGATACGCCGACTTTGACCATCGAATAAATTTTTaa > 4:306150/1‑150 (MQ=255) tttAACGTCCCCTGTGTTACCTTTCGTTTTATCACGAGCAATATGCTGGCTGGCAATAACCATCACCAGCGACAGCACCAGTAATATGGTTGCCAGCGCGTTAACTTCCGGCGATACGCCGACTTTGACCATCGAATAAATTTTTAACgg < 3:107425/150‑1 (MQ=255) tttAACGTCCCCTGTGTTACCTTTCGTTTTATCACGAGCAATAAGCTGGCTGGCAATAACCATCACCAGCGACAGCACCAGTAATATGGTTGCCAGCGCGTTAACTTCCGGCGATACGCCGACTTTGACCATCGAATAAATTTTTAACgg > 2:318870/1‑150 (MQ=255) tttAACGTCCCCTGTGTTACCTTTCGTTTTATCACGAGCAATAAGCTGGCTGGCAATAACCATCACCAGCGACAGCACCAGTAATATGGTTGCCAGCGCGTTAACTTCCGGCGATACGCCGACTTTGACCATCGAATAAATTTTTAACgg > 2:22302/1‑150 (MQ=255) tAACGTCCCCTGTGTTACCTTTCGTTTTATCACGTGCAATAAGCTGGCTGGCACTACCCATCACCAGCGACAGCACCCGTTAAATGGTTGCCAGCGCGTTAACTTCCGGCGACACGCCGTCTTTGACCATCGAACACATTTTTACCGGCa > 2:35196/1‑150 (MQ=255) tCCCCTGTGTTACCTTTCGTTTTATCACGAGCAATAAGCTGGCTGGCAATAACCATCACCAGCGACAGCACCAGTAATATGGTTGCCAGCGCGTTAACTTCCGGCGATACGCCGACTTTGACCATCGAATAAATTTTTAACGGCAGAAtt > 2:91794/1‑150 (MQ=255) tCCCCTGTGTTACCTTTCGTTTTATCACGAGCAATAAGCTGGCTGGCAATAACCATCACCAGCGACAGCACCAGTAATATGGTTGCCAGCGCGTTAACTTCCGGCGATACGCCGACTTTGACCATCGAATAAATTTTTAACGGCAGAAtt > 4:142303/1‑150 (MQ=255) ccTGTGTTACCTTTCGTTTTATCACGAGCAACAAGCTGGCTGGCAATAACCATCACCAGCGACAGCACCAGTAATATGGTTGCCAGCGCGATAACTACCGGCGATACGACGAATTTCACCATCGAATAAATGTTTAACGGCACAATTTCa < 2:586569/150‑1 (MQ=255) tACCTTTCGTTTTATCACGAGCAATAAGCTGGCTGGCAATAACCATCACCAGCGACAGCACCAGTAATATGGTTGCCAGCGCGTTAACTTCCGGCGATACGCCGACTTTGACCATCGAATAAATTTTTAACGGCAGAATTTCATAACTTg < 1:383576/150‑1 (MQ=255) ttCGTTTTATCACGAGCAATAAGCTGGCTGGCAATAACCATCACCAGCGACAGCACCAGTAATATGGTTGCCAGCGCGTTAACTTCCGGCGATACGCCGACTTTGACCATCGAATAAATTTTTAACGGCAGAATTTCATAACTTGGTCCg < 3:42114/150‑1 (MQ=255) gTTTTATCACGAGCAATAAGCTGGCTGGCAATAACCATCACCAGCGACAGCACCAGTAATATGGTTGCCAGCGCGTTAACTTCCGGCGATACGCCGACTTTGACCATCGAATAAATTTTTAACGGCAGAATTTCATAACTTGGTCCGGTg > 1:90635/1‑150 (MQ=255) ttttATCACGAGCAATAAGCTGGCTGGCAATAACCATCACCAGCGACAGCACCAGTAATATGGTTGCCAGCGCGTTAACTTCCGGCGATACGCCGACTTTGACCATCGAATAAATTTTTAACGGCAGAATTTCATAACTTGGTCCGGTGa > 1:542748/1‑150 (MQ=255) tCACGAGCAATAAGCTGGCTGGCAATAACCATCACCAGCGACAGCACCAGTAATATGGTTGCCAGCGCGTTAACTTCCGGCGATACGCCGACTTTGCCCATCGAATAAATTTTTAACGGCAGAATTTCATAACTTGGTCCGGTAacgaac > 2:190990/1‑150 (MQ=255) cGAGCAATAAGCTGGCTGGTAATAACCATCACCAGCGACAGCACCAGTAATATGGTTGCCAGCGCGTTAACTTCCGGCGATACGCCGACTTTGACCATCGAATAAATTTTTAACGGCAGAATTTCATAACTTGGTCCGGTGAcgaacgaa < 3:381442/150‑1 (MQ=255) cGAGCAATAAGCTGGCTGGTAATAACCATCACCAGCGACAGCACCAGTAATATGGTTGCCAGCGCGTTAACTTCCGGCGATACGCCGACTTTGACCATCGAATAAATTTTTAACGGCAGAATTTCATAACTTGGTCCGGTGAcgaacgaa < 3:381465/150‑1 (MQ=255) tacgctggctgTCAATAACCATCACCAGCGACAGCACCAGTAATATGGTTGCCAGCGCGTTAACGTCCGGCGATACGCCGTCTTTGACCATCGAATAAATTTTTAACGGCAGAATTTCATAACTTGGTCCGGTGACGAACGAAGAAACTa < 2:413841/147‑1 (MQ=255) tAAGCTGGCTGGCAATAACCATCACCAGCGACAGCACCAGTAATATGGTTGCCAGCGCGTTAACTTCCGGCGATACGCCGACTTTGACCATCGAATAAATTTTTAACGGCAGAATTTCATAACTTGGTCCGGTGACGAACGAAGAAACTa < 1:411658/150‑1 (MQ=255) aaGCTGGCTGGCAATAACCATCACCAGCGACAGCACCAGTAATATGGTTGCCAGCGCGTTAACTTCCGGCGATACGCCGACTTTGACCATCGAATAAATTTTTAACGGCAGAATTTCATAACTTGGTCCGGTGACGAACGAAGAAACTAc < 1:546/150‑1 (MQ=255) aGCTGGCTGGCAATAACCATCACTAGCGACAGCACCAGTAAAAGGGTTGCCAGCGCGTTAACTTCCGGCGATACGCCGACTTTGACCATCGAATAAATTTTTAACGGCAGAATTTCATAACTAGGTCCGGTGGCGAACGAAGAACCTAcc > 4:3678/1‑150 (MQ=255) aGCTGGCTGGCAATAACCATCACCAGCGACAGCACCAGTAATATGGTTGCCAGCGCGTTAACTTCCGGCGATACGCCGACTTTGACCATCGAATAAATTTTTAACGGCAGAATTTCATAACTTGGTCCGGTGACGAACGAAGAAACTAcc < 1:363656/150‑1 (MQ=255) gctggctgGCAATAACCATCACCAGCGACAGCACCAGTAATATGGTTGCCAGCGCGTTAACTTCCGGCGATACGCCGACTTTGACCATCGAATAAATTTTTAACGGCAGAATTTCATAACTTGGTCCGGTGACGAACGAAGAAACTACca < 3:149330/150‑1 (MQ=255) ctggctggCAATAACCATCACCAGCGACAGCACCAGTAATATGGTTGCCAGCGCGTTAACTTCCGGCGATACGCCGACTTTGACCATCGAATAAATTTTTAACGGCAGAATTTCATAACTTGGTCCGGTGACGAACGAAGAAACTACcac < 4:95622/150‑1 (MQ=255) gcAATAACCATCACCAGCGACAGCACCAGTAATATGGTTGCCAGCGCGTTAACTTCCGGCGATACGCCGACTTTGACCATCGAATAAATTTTTAACGGCAGAATTTCATAACTTGGTCCGGTGACGAACGAAGAAACTACCACATCGTcc < 1:491978/150‑1 (MQ=255) gcAATAACCATCACCAGCGACAGCACCAGTAATATCGTTGCCAGCGCGATCACTTCCGGCGACACGCCGACTTTGACCATCGAATAAATTTTTAACGGCAGAATATCCTAACTTGGTCCCGTGACGAACGAAGAAACTACCACATCGTcc > 4:344057/1‑150 (MQ=255) | TAGAAATACAGCGTGTTGTTGTCATCGGCGTGAGCGGCGCTCATGCCCAGTGCCAGAGCACCCGCCGCGAGCAGGTGGCGTGACCATTTTTTCATTTAACGTCCCCTGTGTTACCTTTCGTTTTATCACGAGCAATAAGCTGGCTGGCAATAACCATCACCAGCGACAGCACCAGTAATATGGTTGCCAGCGCGTTAACTTCCGGCGATACGCCGACTTTGACCATCGAATAAATTTTTAACGGCAGAATTTCATAACTTGGTCCGGTGACGAACGAAGAAACTACCACATCGTCC > NC_000913_3_hsa_tpiA/1182735‑1183030 |
Alignment Legend |
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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: ‑ |