Predicted mutation | ||||||
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evidence | seq id | position | mutation | annotation | gene | description |
RA | NC_000913_3_hsa_tpiA | 2,679,525 | G→T | A1074D (GCT→GAT) | yphG ← | DUF4380 domain‑containing TPR repeat protein |
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 | 2,679,525 | 0 | G | T | 93.3% | 65.7 / ‑4.5 | 31 | A1074D (GCT→GAT) | yphG | DUF4380 domain‑containing TPR repeat protein |
Reads supporting (aligned to +/- strand): ref base G (0/2); new base T (14/14); total (14/17) | |||||||||||
Fisher's exact test for biased strand distribution p-value = 4.85e-01 | |||||||||||
Kolmogorov-Smirnov test that lower quality scores support variant p-value = 9.81e-01 |
GCTTATTCTAATTATTTTGTGATGAGCGGCAGCGCGTGCCGCTCAAATATTACAGTTAATAGGGTTTAGTGAACGCGGTTAAAAATAAAAGGCATCACGGTGGTGAATAATGCCGCTTTCGGCCAAGCCGGATTAATCGCCGTCAATTCAGCGCGAGCAGACTCATATTGCGCAACCTCCCCGAGTCCCGCGGACGCCAGCATCGCCACCATCAGGCATTTTTCTTTATGCTGCTGTTGTAAATCGCCATACAGCGACAACAAGTCAGG > NC_000913_3_hsa_tpiA/2679399‑2679667 | gCTTATTCTAATTATTTTGTGATGAGCGGCAGCGCGTGCCGCTCAAATATTACAGTTAATAGGGTTTAGTGAACGCGGTTAAAAATACACGGCATCACGGTGGTGAATAATGCCGCTTTCGGCCAATCCGGGTTCATGCCCGTGAAtta > 1:164684/1‑148 (MQ=255) ttttCTAATTTTTTTTTGATGGGCGGCAGCGCGTGCCGCTCAAATATTATAGTTAATAGGGTTGAGTGAACGCGGTTAAAAATACAAGGCATCAAGATGGTGAACAATGCCGCTTTCGGCCAATCCGGATTAATCGCCGTCAATTCAgc < 2:339048/147‑1 (MQ=255) tAATTATTTTGTGATGAGCGGCAGCGCGTGCCGCTCAAATATTACAGTTAATAGGGTTTAGTGAACGCGGTTAAAAATAAAAGGCATCACGGTGGTGAATAATGCCGCTTTCGGTTATGCCTGATTAATCGCCGTCAATTCAGCGCGAg < 1:252762/149‑1 (MQ=255) attattTTGTGATGAGCGGCAGCGCGTGCCGCTCAAATATTACAGTTAATAGGGTTTAGTGAACGCGGTTAAAAATAAAAGGCATCACGGTGGTGAATAATGCCGCTTTCGGCCAATCCGGATGAATCGCCGTCAATTAAGCGCGAGCa > 1:126606/1‑149 (MQ=255) aGCGGCAGCGCGTGCCGCTGAAATATTACAGTTAATAGGGTTTAGTGAACGCGGTTACAAATAAAAGGCATCACGGTGGTGAATAATGCCGCTTTCGGCCAATCCGGATTAATCGCCGTCAATTCAGCGCGAGCAGACTCATATTgcgc < 1:480679/149‑1 (MQ=255) gCGGCAGCGCGTGCCGCTCAAATATTACAGTTAATAGGGTTTAGTGAACGCGGTTAAAAATAAAAGGCATCACGGTGGTGAATAATGCCGCTTTCGGCCAATCCGGATTAATCGCCGTCAATTCAGCGCGAGCAGACTCATATTGCGCa < 2:408928/149‑1 (MQ=255) ggCATCGCGGGCCGCTCAAATATTACAGTAAATAGGGTTTAGTGAACGCGGTTAAAAATAAAAGGCCTCACGGTGGTGAATAATGCCGCTTTCGGCCAATCCGGATTAATCGCCGTCAATTCAGCGCGAGCAGACTCATATTGCGCAAc < 1:382445/149‑1 (MQ=255) ggCAGCGCGTGCCGCTCAAATATTACAGTTAATAGGGTTTAGTGAACGCGGTTAAAAATAAAAGGCATCACGGTGGTGAATAATGCCGCTTTCGGCCAATGCGGATTAATCGCCGTCAATTCAACGCGAGCAGACTCATATTGCGCaaa > 2:185970/1‑148 (MQ=255) cAGCGCGTGCCGCTCAAATATTACAGTTAATAGGGTTTAGTGAACGCGGTTAAAAATAAAAGGCATCACGGTGGTGAATAATGCCGCTTTCGGCCAATCCGGATTAATCGCCGTCAATTCAGCGCGAGCAGACTCATATTGCGCAACCt > 2:291144/1‑149 (MQ=255) gcgcGTGCCGCTCAAATATTACAGTTAATAGGGTTTAGTGAACGCGGTTAAAAATAAAAGGCATCACGGTGGTGAATAATGCCGCTTTCGGCCAATCCGGATTAATCGCCGTCAATTCAGCGCGAGCAGACTCATATTGCGCAACCTcc > 2:419420/1‑149 (MQ=255) cGCTCAAATATTACAGTTAATAGGGTTTAGTGAACGCGGCAAAAAATGCCAGGTACCTCGTGGGGGAATATTGCCGCTTTCGGCCAATCCGGATTAATCGCCGTCAATTCAGCGCGAGCAGACTCATATTTCGCAAGCTCCCCGAGTcc > 2:58684/1‑149 (MQ=255) caaaaatttATAGTTAATAGGTCTGAGTGAACGCGGTTAAAAATAAAAGGCATCACGGTGGTGAATAATGCCGCTTTCGGCCAATCCGGATTAATCCCCGTCAATTCAGCTCGAGCAGACTCATATTGCGCAACCTCCCCGAGTCCcgc < 2:164684/142‑1 (MQ=255) cAAAGATGACAGTTAATAGGGTTTAGGGAACGCGGTTAAAAATAAAAGGCATCACGGTGGTGAATAATGCCGCTTTCGGCCAAGCCGGATTAATCGCCGTCAATTCAGCGCGAGCAGACTCATATTGCGCAACCTCCCCGAGTCCcgcg < 1:315649/149‑1 (MQ=255) atTACAGTTAATAGGGTTTAGTGAACGCGGTTAAAAATAAAAGGCATAACGGTGTTGAATAATTCCGCTTTCGGCCAATCCGGATTAATCGCCGTCAATTCAGCGCGAGCAGACTCATATTGCGCACCCTCCCCTAGTCCCCCggcccc > 2:464248/1‑145 (MQ=255) ttAATAGGGTTTAGTGAACGCGGTTAAAAATAAAAGGCATCACGGTGGTGAATAATGCCGCTTTCGGCCAATCCGGATTAATCGCCGTCAATTCAGCGCGAGCAGACTCATATTGCGCAATCTCCCCGAGTCCCGCGGACGCCAGAATc < 2:277487/149‑1 (MQ=255) ggTTTAGTGAACGCGGTTAAAAATAAAAGGCATCACGGTGGTGAATAATGCCGCTTTCGGCCAATCCGGATTAATCGCCGTCAATTCAGCGCGAGCAGACTCATATTGCGCAACCTCCCCGGGTCCCGCGGACGCCAGCATCGccacca > 1:250608/1‑149 (MQ=255) gTTAAAAATAAAAGGCATCACGGTGGTGAATAATGCCGCTTTCGGCCAATCCGGATTAATCGCCGTCAATTCAGCGCGAGCAGACTCATATTGCGCAACCTCCCCGAGTCCCGCGGACGCCAGCATCGCCACCATCAGGCATTTTTCtt > 2:169353/1‑149 (MQ=255) aaaTAAAAGGCATCACGGTGGTGAATAATGCCGCTTTCGGCCAACCCGGATTAATCGCCGTCAATTCAGCGCGAGCAGACTCATATTGCGCAACCTCCCCGAGTCCCGCGGACGCCAGCATCGCCACCATCAGGCATTTTTCTTTAtgc < 1:63012/149‑1 (MQ=255) aaGGCATCACGGTGGTGAATAATGCCGCTTTCGGCCAATCCGGATTAATCGCCGTCAATTCAGCGCGAGCAGACTCATATTGCGCAACCTCCCCGa < 1:445556/96‑1 (MQ=255) aaGGCATCACGGTGGTGAATAATGCCGCTTTCGGCCAATCCGGATTAATCGCCGTCAATTCAGCGCGAGCAGACTCATATTGCGCAACCTCCCCGa > 2:445556/1‑96 (MQ=255) gcctCACGGTGGTCAATAATGCCGCTTTCGGCCAATCCGGATTAATCGCCGTCAATTCAGCGCGAGCAGACTCATATTGCGCAACCTCCCCGAGTCCCGCGGACGCCAGCATCGCCACCATCAGGCATTTTTCTTTATGCTGCtgttgt < 1:468419/146‑1 (MQ=255) gCATCACGGTGGTGAATAATGCCGCTTTCGGCCAATCCGGATTAATCGCCGTCAATTCAGCGCGAGCAGACTCATATTGCGCAACCTCCCCGAGTCCCGCGGACGCCAGCATCGCCACCATCAGGCATTTTTCTTTATGCTGCtgttgt < 1:169353/149‑1 (MQ=255) gCATCACGGTGGTGAATAATACCGCTTCCGGCCAATCCGAAAACACCACCAGCAATTCAGCGCCGGCACACTCAGAGTGCACAACCTCCCCGAGTCCCGCGGACGCCAGCATCACCACCATCCGCCATTTTTCTTTAAGCTGCagttgt > 2:237833/1‑149 (MQ=255) ggtgAATAATGCCGCTTTCGGCCAATCCGGATTAATCGCCGTCAATTCAGCGCGAGCAGACTCATATTGCGCAACCTCCCCGAGTCCCGCGGACGCCAGCATCGCCACCATCAGGCATTTTTCTTTATGCTGCTGTTGTAAATCGCCAt > 2:171274/1‑149 (MQ=255) atgAATAATGCCGCTTTCGGCCATTACGTATTAATCGCTGTCATTGCTGCGCGAGCAGACTCATATTTCTCAACCTCCCCGAGTCCCGCGGACGCCGGCATCGCCACCATCAGGCATTTCTCTTTATGCTGCTGTTGTACATTCCCATa > 2:46945/2‑149 (MQ=255) gAATAATGCCGCTTTCGGCCAATCCGGATTAATCGCCGTCAATTCAGCGCGAGCAGACTCATATTGCGCAACCTCCCCGAGTCCCGCGGACGCCAGCATc > 2:227753/1‑100 (MQ=255) gAATAATGCCGCTTTCGGCCAATCCGGATTAATCGCCGTCAATTCAGCGCGAGCAGACTCATATTGCGCAACCTCCCCGAGTCCCGCGGACGCCAGCATc < 1:227753/100‑1 (MQ=255) ataatGCCGCTTTCGGCCAATCCGGATTAATCGCCGTCAATTCAGCGCGAGCAGACTCATATTGCGCAACCTCCCCGAGTCCCGCGGACGCCAGCATCGCCACCATCAGGCATTTTTCTTTATGCTGCTGTTGTAAATCGCCATACAGc < 1:171274/149‑1 (MQ=255) gCCGCTTTCGGCCAATCCGGATTAATCGCCGTCAATTCAGCGCGAGCAGACTCATATTGTGCAACCTCCCCGAGTCCCGCGGACGCCAGCATCGCCACCATCAGGCATTTTTCTTTATGCTGCTGTTGTAAATCGCCACACAGCGacaa < 1:494061/149‑1 (MQ=255) cGGCCAATCCGGATTAATCGCCGGCAATTCAGCGCGAGCAGACTCATATTGCGCAACCTCCCCGAGTCCCGCGGACGCCAGCATCGCCACCATCAGGCATTTTTCTTTATGCTGCTGTTGTAAATCGCCATACAGCGACAACAAGTCAg < 1:464248/149‑1 (MQ=255) ggCAAATCCGGTTTCATCGCCGTCAATTCAGCGCGAGCAGACTCATATTGCGCAACCTCCCCGAGTCCCGCGGACGCCAGCATCGCCACCATCAGGCATTTTTCTTTATGCTGCTGTTGTAAATCGCCATACAGCGACAACAAGTCAgg < 1:320927/149‑1 (MQ=255) | GCTTATTCTAATTATTTTGTGATGAGCGGCAGCGCGTGCCGCTCAAATATTACAGTTAATAGGGTTTAGTGAACGCGGTTAAAAATAAAAGGCATCACGGTGGTGAATAATGCCGCTTTCGGCCAAGCCGGATTAATCGCCGTCAATTCAGCGCGAGCAGACTCATATTGCGCAACCTCCCCGAGTCCCGCGGACGCCAGCATCGCCACCATCAGGCATTTTTCTTTATGCTGCTGTTGTAAATCGCCATACAGCGACAACAAGTCAGG > NC_000913_3_hsa_tpiA/2679399‑2679667 |
Alignment Legend |
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Aligned base mismatch/match (shaded by quality score): ATCG/ATCG < 3 ≤ ATCG/ATCG < 12 ≤ ATCG/ATCG < 13 ≤ ATCG/ATCG < 32 ≤ ATCG/ATCG < 41 ≤ ATCG/ATCG |
Unaligned base: atcg Masked matching base: atcg Alignment gap: ‑ Deleted base: ‑ |