Predicted mutation | |||||||
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evidence | seq id | position | mutation | freq | annotation | gene | description |
RA | NC_000913_3_hsa_tpiA | 2,088,156 | T→C | 11.2% | S35G (AGT→GGT) | yeeY ← | LysR family putative transcriptional regulator |
Read alignment evidence... | |||||||||||
---|---|---|---|---|---|---|---|---|---|---|---|
seq id | position | ref | new | freq | score (cons/poly) | reads | annotation | genes | product | ||
* | NC_000913_3_hsa_tpiA | 2,088,156 | 0 | T | C | 11.2% | 91.5 / 2.4 | 46 | S35G (AGT→GGT) | yeeY | LysR family putative transcriptional regulator |
Reads supporting (aligned to +/- strand): ref base T (17/19); new base C (2/3); total (21/25) | |||||||||||
Fisher's exact test for biased strand distribution p-value = 1.00e+00 | |||||||||||
Kolmogorov-Smirnov test that lower quality scores support variant p-value = 9.93e-01 |
ACGGTATGCAGAACTTCCCGCCCTTTCTCTAATAACATTTTTCCGGTGCGGGTGAATTTAGCGCGGTGTCCGCTACGATCAAGCAATTGAATATTAAGGTCGCTTTCCAGCTTGTGAACGGTGTAACTCAGAGCGGACGGCGTCTTGTAGAGTTTGGCCGACGCCGCCGCAAAACTGCCTTCTTTTTCTAAGGCATCGAGGATCATCAACACATCCAGCAGTGGTTTCATACACGCCCCCTTGCAGTGCATGCGGCGTCCTGCTGGCGTGATCGTT > NC_000913_3_hsa_tpiA/2088029‑2088304 | aCGGTATGCAGAACTTCCCGCCGTTTCTCGAATAACATTTTTCCGGTGCTGGTGAATTTAGCGCCGTGTCCGATACGCTCAAGCCATTGAATATTACGGCCGCTTTCCCGCTTGTGATCGGTTTATCCCTGAGCGGACGGCGTCTTGTa < 2:162009/149‑1 (MQ=255) aCGGTATGCAGAACTTCCCGCCCTTTCTCTAATAACATTTTTCCGGTGCGGGTGAATTTAGCGCGGTGTCCGCTACGATCAAGCAATTGAATATTAAGGTCGCTTTCCAGCTTGTGAACGGTGTAACTCAGAGCGGACGGCGTCTTGTa < 1:525725/149‑1 (MQ=255) gCAGAACTTCCCGCCCTTTCGCTAATAACATTTTTCCGGTGCGGGTGAATTTAGCGCGGTGTCCGCTACGATCAAGCAATTGAATATTAAGGTCGCTTTCCAGCTTGTGAACGGTGTAACTCAGAGCGGACGGCGTCTTGTAGAGTTTg < 1:180659/149‑1 (MQ=255) gCAGAACTTCCCGCCCGTTCTCTAATAACATTTTTCCGGTGCGGGTGAATTTAGCGCGGTGTCCGCTACGATCAAGCAATTGAATATTAAGGTCGCTTTCCAGCTTGTGAACGGTGTAACTCAGAGCGGACGGCGTCTTATAGAGTTTg > 2:509360/1‑149 (MQ=255) ttCCCGCCCTTGCTCTAATAACATTTTTCCGGTGCGGGTGAATTTAGCGCGGTGTCCGCTACGATCAAGCAATTGAATATTAAGGTCGCTTTCCAGCTTGTGAACGGTGTAACGCAGAGCGGGCGGCGGCTTGTAGAGTCTGGCCGGcg > 1:419720/1‑149 (MQ=255) gCCCTTTCTCTAATAACATTTTTCCGGTGCGGGTGAATTTAGCGCGGTGTCCGCTACGATGAAGCAATTGAATATTAAGGTCGCTTTCCAGCTTGTGAACGGTGTGACTCAGAGCGGACGGCGTCTTGTAGAGTTTGGCCGAcgccgcc > 1:170946/1‑149 (MQ=255) ctctAATAACATTTTTCCGTTTCTGGTGAATTTAGCGCGGTGTCCGCTACGATCAAGCAATTGAATATTAAGGTCGCTTTCCAGCTTGTGAACGGTGTAACCCAGAGCTGACGGCGTCTTGTAGAGTTTGGCCGACGCCGCCGCAAAAc > 2:91102/1‑149 (MQ=255) cgctAATAACATTTTTCCGGTGCGGGTGAATTTAGCGCGGTGTCCGCTACGATCAAGCAATTGAATATTAAGGTCGCTTTCCAGCTTGTGAACGGTGTAACCCAGAGCGGACGGCGTCTTGTAGAGTTTGGCCGACGCCGCCGCAAAAc > 2:91448/3‑149 (MQ=255) aTTTTTGCGGGGCGGGTGAATTTAGCGCGGTGTCCGCTACGATCAAGCAATTGAATATTAAGGTCGCTTTCCAGCTTGTGAACGGTGTAACTCAGAGCGGACGGCGTCTTGTAGAGTTTGGCCGACGCCGCCGCAAAACTGCCTTCttt < 2:672878/149‑1 (MQ=255) ttttCCGGTGCGGGTGAATTTAGCGCGGTGTCCGCTACGATCAAGCAATTGAATATTAAGGTCGCTTTCCAGCTTGTGAACGGTGTACCTCAGAGCGGACGGCGTCTTGTAGAGTTTGGCCGACGCCGCCGCAAAACTGCCTTCttttt < 1:481019/149‑1 (MQ=255) ttCCGGTGCGGGTGAATTTAGCGGGGTGTCTGCTAGGATCAAGCAATTGGTTGTTAGGGTGGCTTTTGTGGTTGTGAGTGGTGTAGCTCAGAGTGGACGGCGTCTTGTAGAGTTTGGCCGACGCCGCCGCCAAATTGACTTCTTTTTCt > 2:15668/1‑149 (MQ=255) ccGGGGCGGGCGAATTTACCGCGGTGCCCGCTACGATCAAGCAATTGAATATTAAGGTCGCTTTCCAGCTTGTGAACGGTGTAACTCAGAGCGGACGGCGTCTTGTAGAGTTTGGCCGACGCCGCCGCAAAACTGCCTTCTTTTTCTaa < 1:416322/149‑1 (MQ=255) cGGGGCGGGTGAATTTAGCGCGGTCGCCGCTACGAGCAAGCAATTGAATATTAAGGTCGCTTTCCAGCTTGTGAACGGTGTAACTCAGAGCGGACGGCGCCTTGTATAGTTTGGCCGACGCCGCCGCAAAACTGCCTTCTTTTTCTAAg < 2:237303/149‑1 (MQ=255) gTGAATTTATCGCGGTGTCCGCTACGATCAAGCAATTGAATATTAAGGTCGCTTTCCAGCTTGTGAACGGTGTAACTCAGAGCGGACGGCGTCTTGTAGAGTTTGGCCGACGCCGCCGCAAAACTGCCTTCTTTTTCTAAGGCATCGAg < 2:206335/149‑1 (MQ=255) gTGAATTTAGCGCGGTGTCCGCTACGATCAAGCAATTGAATATTAAGGTCGCTTTCCAGCTTGTGAACGGTGTAACTCAGAGCGGACGGCGTCTTGTAGAGTTTGGCCGACGCCGCCGCAAAACTGCCTTCTTTTTCTAAGGCATCGAg > 1:204428/1‑149 (MQ=255) tgattctAGCGCGGTGTTCGCTATGATCAAGCAATTGAATATTAAGGTCGCTTTCCTGTTTGTGAACGGTGTAACGCAGAGCGGACGGCGTCTTGTAGAGTTTGGCCGACGCCGCCGCAAAACTGCCTTTTTTTTCTAAGGCATCGAgg < 2:332313/143‑1 (MQ=255) aTTTAGGGCGGTGTTCGCAACGATCAAGCAATTGAATATTAGGGTCGCTTTCCAGTGGGTGGAAGGTGTGACGCAGAGCGGGCGGCGTCGTGTAGGGTTTGGCCGAGGCCGCCGCAAAGCTTCCTTCTTTTTCTAAGGCATCGAGGatc < 2:48262/149‑1 (MQ=255) gcgcGGTGTCCGCTACGATCAAGCAATTGAATATTAAGGTCGCTTTCCAGCTTGTGAACGGTGTAACTCAGAGCGGACGGCGTCTTGTAGAGTTTGGCCGACGCCGCCGCAAAACTGCCTTCTTTTTCTAAGGCATCGAGGATCATCaa < 1:402789/149‑1 (MQ=255) cgcgATGTCCGCTACGATCAAGCTATTGAATATTAAGGTCGCTTTACAGCTTGTGAACGGTGTAACTCAGAGCGGACGTCGTCTTGTAGAGCTTGGCCCACGCCCCCGCAGAACTGCCTGCTTTTTCTAAGGCATCGAGGATCATCAac < 1:581022/149‑1 (MQ=255) ccGCTACGATCAAGCAATTGAATATTAAGGTCGCGTTCCAGCTTGTGAACGGTGTAACTCAGAGCGGACGGCGTCCTGTAGAGTTGGGCCGACGCCGCCGCAAAACTGCCTTCTTTTTCTAAGGCATCGAGGATCATCAACACATCcag < 2:380284/149‑1 (MQ=255) tACGATCAAGCAATTGAATATTAAGGTCGCTTTCCAGCTTGTGAACGGTGTAACTCAGAGCGGACGGCGTCTTGTAGAGTTTGGCCGACGCCGCCGCAAAACTGCCTTCTTTTTCTAAGGCATCGAGGATCATCAACACATCCAGCAGt > 2:617490/1‑149 (MQ=255) aGCAATTGAATATTAAGGTCGCTTTCCAGCTTGTGAACGGTGTAACTCAGAGCGGACGGCGTCTTGTAGAGTTTGGCCGACGCCGCCGCAAAACTGCCTTCTTTTTCTAAGGCATCGAGGATCATCAACACATCCAGCAGTGGTTTCAt > 1:216939/1‑149 (MQ=255) gCAATTGAATATTAAGGTCGCTTTCCAGCTTGTGAACGGTGTAACTCAGAGCGGACGGCGTCTTGTAGAGTTTGGCCGACGCCGCCGCAAAACTGCCTTCTTTTTCTAAGGCATCGAGGATCATCAACACATCCAGCAGTGGTTTCATa > 2:153758/1‑149 (MQ=255) gCAATTGAATATTAAGGTCGCTTTCCAGCTTGTGAACGGTGTAACTCAGAGCGGACGGCGTCTTGCAGAGTTTGGCCGACGCCGCCGCAAAACTTCCTTCTTTTTCTAAGGCATCGAGGATCATCAACACATCCAGCAGTGGTTTCATa < 1:628286/149‑1 (MQ=255) aTTGCATATTAAGGTCGCTTTCTAGCGTGTGAACGGTGTAACTCAGAGCGGACGGCGTCTTGTAGAGTTTGGCCGACGCCGCCGCAAAACTGCCTTCTTTTTCTAAGGCATCGAGGATCATCAACACATCCAGCAGTGGTTTCATacac < 1:498630/149‑1 (MQ=255) aTTGAATATTAAGGTCGCTTTCCAGCTTGTGAACGGTGTAACTCAGAGCGGACGGCGTCTTGTAGAGTTTGGCCGACGCCGCCGCAAAACTGCCTTCTTTTTCTAAGGCATCGAGGATCATCAACACATCCAGCAGTGGTTTCATacac > 1:402735/1‑149 (MQ=255) ttGAATGTAAAGGTCGCTTCCCAGCTTGTGAACGGTGTAACTCAGAGCGGACGGCGTCTTGTAGAGGTGGGCGGACGCCGCCGCAAAAATGCCTCCTGTTTCTACGGCATCGAGCGTCATCAACACATCCCACGGAGGTTCCATaccag > 2:447147/1‑146 (MQ=255) ttGAATATTAAGGTCGCTTTCCAGCTTGTGAACGGTGTAACTCAGAGCGGACGGCGTCTTGTAGAGTTTGGCCGACGCCGCCGCAAAACTGCCTTCTTTTTCTAGGGCATCGAGGATCATCAACACATCCAGCAGTGGTTTCATAcgcg > 1:221109/1‑149 (MQ=255) tatTAAGGTCGCTTTCCAGCTTGTGAACGGTGTAACGCAGAGCGGACGGCGTCTTGTAGAGTTTGGCCGACGCCGCCGCAAAACTGCCTTCTTTTTCTAAGGCCTCGAGGATCATCAACACATCCAGCCGTGGTTTCATACAAGccccc > 2:384041/1‑149 (MQ=255) tatTAAGCTCCGTTTCCAGCGTGTGAACGGTGTAACTCCGAGCTGACGGCGTCTTGTAGTGTTTGGCCGACGCCGCCGCAAAACTGCCTTCTTTTTCTAAGGCAGCGAGGATCATCAACACATCCAGCAGTGGTTTCATACACGccccc < 2:222514/149‑1 (MQ=255) tatTAACGTCGCTTTCCAGCTTCTGAACGGCGTAACTAAGCGAGGCCGGCGTCTTGTAGAGTTTGGCCGACGCCGCCGCAAAACTTCCTTCTTTTTCTAAGGCATCGAGGATCATCAACACATCCAGCAGTGGTTTCATACACGccccc < 1:229617/149‑1 (MQ=255) aGGTCGCTTTCCAGCTTGTGAACGGTGTAACTCGGAGCGGACGTCTTTTTGTAGAGTTTGGCCGACGCCGCCGCAAAACTGCCTTCTTTTTCTAAGGCATCGAGGATCATCAACACATCCAGCAGTGGTTTCATACACGCCCCCTTGCa < 1:125853/149‑1 (MQ=255) gTCGCTTTCCAGCTTGTGAACGGTGTAACTCAGAGCGGACGGCGTCTTGTAGAGTTTGGCCGACGCCGCCGCAAAACTGCCTTCTTTTTCTAAGGCATCGAGGATCATCAACACATCCAGCAGTGGTTTCATACACGCCCCCTTGCAGt < 2:512211/149‑1 (MQ=255) cTTTCCAGCTTGTGAACGGTGTAACTCAGAGCGGACGGCGTCTTGTAGAGTTTGGCCGACGCCGCCGCAAAACGGCCTTCTTTTTCTAAGGCATCGAGGATCATCAACACATCCAGCAGTGGTTTCATACACGCCCCCTTGCAGTGCAt > 2:480201/1‑149 (MQ=255) ccATCTTTTGAAGGGGGGATCTCAGGGCGGTCGGCGTCTTGGAGAGGTTGGCCTACGCCGCCGCAAAACTGCCTTCTTTTGCGAAGGCATCGAGGATCATCAACACATCCAGCAGTGGTTTCATACACGCCCCCTTGCAGTGCATgcgg < 1:657496/149‑1 (MQ=255) cAGCTTGTGAACGGTGTAACTCAGAGCGGACGGCGACTTGTAGAGTTTGGCCGACGCCGCCGCAAAACTGCCTTCTTTTTCTAAGGCATCGAGGATCATCAACACAACCAGCAGTGGTTTCATACACGCCCCCTTGCAGTGCATgcggc > 2:480372/1‑149 (MQ=255) aGCTTGTGAACGGTGTAACTCAGAGCGGACGGCGTCTTGTAGAGTTTGGCCGACGCCGCCGCAAAACTGCCTTCTTTTTCTAAGGCATCGAGGATCATCAACACATCCAGCAGTGGTTTCATACACGCCCCCTTGCAGTGCATgcggcg > 2:207429/1‑149 (MQ=255) aGCTTGTGAACGGTGTAACTCAGAGCGGACGACGTCTTGGACAGTTGGGCCGACGCCGCCGCAAAACTGCCTTCTTTTTCTAAGGCATCGAGGATCATCAACACATCCAGCAGTGGTTTCATACACGCCCCCTAGCGGTGCATgcggcg > 2:233305/1‑149 (MQ=255) aGCGTGTGAACGGTGTAACTCAGAGCGGACGGCGTCTTGTAGAGTTTGGCCGACGCCGCCGCAAAACTGCCTTCTTTTTCTAAGGCATCGAGGATCATCAACACATCCAGCAGTGGCTTCATACACCCCCCCTTGCAGTGCATgcggcg > 2:440741/1‑149 (MQ=255) gtgAACGGTGTAACCCAGAGCGGACGGCTTGTTGTAGAGGTTGGCAGCCGCCGCCGCAAAACTGCCTTCTTTTTCTAAGGCATCGAGGATCATCAACACATCCAGCAGTGGTTTCATACACGCCCCCTTGCAGTGCATGCGGCGTCctg < 1:91102/149‑1 (MQ=255) gtgAACGGTGTAACCCAGAGCGGACGGCGTCTTGCAGAGTTTCGCCGACACCGCCGCAAAACTGCCTTCTTTTTCTAAGGCATCGAGGATCATCAACACATCCAGCAGTGGTTTCATACACGCCCCCTTGCAGTGCATGCGGCGTCctg < 1:91448/149‑1 (MQ=255) tgAACGGTGTAACTCAGAGCGGACTGCGTCTTGTAGAGTTTGGCCGACGCCGCCGCAAAACTGCCTTCTTTTTCTAAGGCATCGAGGATCATCAACACATCCAGCAGTGGTTTCATACACGCCCCCTTGCAGTGCATGCGGCGTCctgc < 1:88664/149‑1 (MQ=255) tgAACGGTGTAACTCAGAGCGGACGGCGTCTTGTAGAGGTTGGCCGACGCCGCCGCAAAACTGCCTTCTTTTTCTAAGGCATCGAGGATCATCAACACTTCCAGCAGTGGTTTCATACACGCCCCCTTGCAGTGCATGCGGCGTCctgc < 1:87080/149‑1 (MQ=255) gtAACGCAGAGCGGACGGCGTCTTGTAGAGTTTGGCCGACGCCGCCGCAAAACTGCCTTCTTTTTCTAAGGCATCGAGGATCATCAACACATCCAGCAGTGGTTTCATACACGCCCCCTTGCAGTGCATGCGGCGTCCTGCTGGCGTGa < 1:282455/149‑1 (MQ=255) aCTCAGAGCGGACGGCGTCTTGTAGAGTTTGGCCGACGCCGCCGCAAAACTGCCTTCTTTTTCTAAGGCATCGCGGATCATCAACACATCCAGCAGTGGTTTCATACACGCCCCCTTGCAGTGCATGCGGCGTCCTGCTGGCGTGATCg > 1:244855/1‑149 (MQ=255) aCTCAGAGCGGACCGCGACTTGTAGAGTTTCGCCGACCCCGCCGCAAAACTGCCTTCTTTTTCTCAGGCATCGAGGATCATCAACACATCCAGCAGTGGTTTCATCCACCCCCCCTCGCAGTGCATGCGCCGTCCTGCTGGCAGGATCg > 2:392030/1‑149 (MQ=255) tCAGAGCGGACGGCGTCTTGTAGAGTTTGGCCGACGCCGCCGCAAAACTGCCTTCTTTTTCTAAGGCATCGAGGATCATCAACACATCCAGCAGTGGTTTCATACACGCCCCCTTGCAGTGCCTTCGGCGTCCTGCTGGCGTGATCGtt > 1:364885/1‑149 (MQ=255) tCAGAGCGGACCGCGTCTTGTAGAGTTTGGCCGACGCCGCCGCAAAACTGCCTTCTTTTTCTAAGGCATCGAGGCTCATCAACACATCCAGCAGTGGCTGCATACACGCCCCCTTGCAGTGCATGCGGCATCCTGCTGGCGTGACCGtt > 2:136426/1‑149 (MQ=255) | ACGGTATGCAGAACTTCCCGCCCTTTCTCTAATAACATTTTTCCGGTGCGGGTGAATTTAGCGCGGTGTCCGCTACGATCAAGCAATTGAATATTAAGGTCGCTTTCCAGCTTGTGAACGGTGTAACTCAGAGCGGACGGCGTCTTGTAGAGTTTGGCCGACGCCGCCGCAAAACTGCCTTCTTTTTCTAAGGCATCGAGGATCATCAACACATCCAGCAGTGGTTTCATACACGCCCCCTTGCAGTGCATGCGGCGTCCTGCTGGCGTGATCGTT > NC_000913_3_hsa_tpiA/2088029‑2088304 |
Alignment Legend |
---|
Aligned base mismatch/match (shaded by quality score): ATCG/ATCG < 3 ≤ ATCG/ATCG < 8 ≤ ATCG/ATCG < 12 ≤ ATCG/ATCG < 27 ≤ ATCG/ATCG < 41 ≤ ATCG/ATCG |
Unaligned base: atcg Masked matching base: atcg Alignment gap: ‑ Deleted base: ‑ |