| Predicted mutation | |||||||
|---|---|---|---|---|---|---|---|
| evidence | seq id | position | mutation | freq | annotation | gene | description |
| JC | NC_000913_3_hsa_tpiA | 3,548,550 | 23 bp→TTTTTTTTTAATGATACGGCGAC | 19.8% | coding (1499‑1521/2085 nt) | malQ ← | 4‑alpha‑glucanotransferase (amylomaltase) |
| New junction evidence | |||||||||||
|---|---|---|---|---|---|---|---|---|---|---|---|
| seq id | position | reads (cov) | reads (cov) | score | skew | freq | annotation | gene | product | ||
| * | ? | NC_000913_3_hsa_tpiA | = 3548549 | 34 (0.920) | 7 (0.230) +TTTTTTTTTAATGATACGGCGAC |
6/228 | NT | 19.8% | coding (1522/2085 nt) | malQ | 4‑alpha‑glucanotransferase (amylomaltase) |
| ? | NC_000913_3_hsa_tpiA | 3548573 = | 34 (0.920) | coding (1498/2085 nt) | malQ | 4‑alpha‑glucanotransferase (amylomaltase) | |||||
TCATGTGTCGCCGCAACCGCCATCGACTGCTCCGGATACGCTTTCGGTGCACGGAACGTCTTCTCGTGGTCGTTTTCGAAATAGAGCACTTTGTAAGAGTACACACCGCTGCTGCGCAGCTTACCGACAATCTCTACCGGTACGGTACCGAGATCTTCACCAATCACCATACAGCGATGACGTTTACTTTCGAGTGCCAGAATCGAGAGCAGATCATCCACCGGATAGTGAACATACGCGCCCTGATCTGCCGTCTCGCCATACGGTATCCACCACAAACGCAGCATCGAC > NC_000913_3_hsa_tpiA/3548428‑3548718 | tCATGTGTCGCCGCAACCGCCATCGACTGCTCCGGATACGCTTTCGGTGCACGGAACGTCTTCTCGTGGTCGTTTTCGAAATAGAGCACTTTGTAAGAGTACACACCGCTGCTGCGCAGCTTACCGACAATCTCTACCGGTACGGTAcc < 1:277774/149‑1 (MQ=255) atggggcgccgcCACCGCCAGCGCCGTCTCCGGATCCGCTGTTGGTGCACGGAGCGTCTTCTCGTGGTCGTTTTCGAAATAGAGCACTTTGTAAGAGTACACACCGCTGCTGCGCAGCTTACCGACAATCTCTACCGGTACGGTACCga < 2:612443/143‑1 (MQ=255) tgtgTCGCCGCAACCGCCATCGACTGCTCCGGATACGCTTTCGGTGCACGGAACGTCTTCTCGTGGTCGTTTTCGAAATAGAGCACTTTGTAAGAGTACACCCCGATGCTGCGCGGCTTATCGACAATCTCTACCGGTACGGTACCggg > 1:128079/1‑147 (MQ=255) gccgcAACCGCCATCGACTGCTCCGGATACGCTTTCGGTGCACGGAACGTCTTCTCGTGGTCGTTTTCGAAATAGAGCACTTTGTAAGAGTACACACCGCTGCTGCGCAGCTTACCGACAATCTCTACCGGTACGGTACCGAGATCTTc > 1:419953/1‑149 (MQ=255) ccgcAACCGCCATCGACTGCTCCGGATACGCTTTCGGTGCACGGAACGTCTTCTCGTGGTCGTTTTCGAAATAGAGCACTTTGTAAGAGTACACACCGCTGCTGCGCAGCTTACCGACAATCTCTACCGGTACGGTACCGAGATCTTCa < 1:562660/149‑1 (MQ=255) ccATCGACTGCTCCGGATACGCTTTCGGTGCACGGAACGTCTTCTCGTGGTCGTTTTCGAAATAGAACACTCAGTAAGAGTACATACCGTTGCTCCGCAGCTTACCAACAATCTCTACCGGTACGCTACCGACACCTTCAACAATCAcc > 2:598007/1‑149 (MQ=255) ctccggtgacgctttcggtgcacggaacgtcttctcttggtcgttttcgaaatagatcgctttgtaagagtacacaccgctgctgcgcagctttttgtttttcatgatccggcgggCACCGAGATCTACACCAATCACCATACAGCGAt < 2:98282‑M2/33‑1 (MQ=255) cggatacgttttcggtccacggaacgtcttctcgtgggcgttttcgaaatagtgcattttgtaagagtacccaccgctgttgcgcagctttttttttttaatgatacggcgacCACCGAGATCTACACCAATCACCATACAGCGATGAc < 2:158791‑M2/36‑1 (MQ=255) cggatacgcttacggtgcacggaacgtcttctcgtggtcgttttcgaaatagagtactttgtaagagtacacaccgctgctgcgcagcttattgtttttaatgatacggcgagCACCGAGATCTACACCAATCACCATACAGCGATGAc < 2:368296‑M2/36‑1 (MQ=255) tttctgtgtacggaacggcttctcttggtcgttgtcgaaatagagcattttgtaagaagacacaccgctgctgcgccgattttgttttttaatgatacggcgacCACCGAGATCTACACCAATCACCATACAGCGATGACGTTTACttt < 2:213522‑M2/45‑1 (MQ=255) ttcggtgcagggaacgtcttctcgtggtcgtttgtgaaattgagcactttgtaatagtacacaccgctgctgcgcagttttttttttttaatgatacggcgacCACCGAGATCTACACCAATCACCATACAGCGATGACGTTTACTTTc < 2:381381‑M2/46‑1 (MQ=255) ggtgaacggaaggtcttctcgttgttgttttcgaactagacctctttgtaagagtacacaccgccgctgcgcatctttttttttttaatgatacggcgacCACCGAGATCTACACCAATCACCATACAGCGATGACGTTTACTTTCGAg < 2:74321‑M2/49‑1 (MQ=255) ggTGCACGGAACGTCTTCTCGTGGTCGTTTTAGAAATAAAGCACTTTGTAAGAGTACACACCGCTGCTGCGCAGCTTACCGACAATCTCTACCGGTACGGTACCGAGATCTTCACCAATCACCATACAGCAGTCACGGTTCCTTTAGat > 2:438668/1‑148 (MQ=255) gTGCACGGAACGTCTTCTCGTGGTCGTTTTCGAAATAGAGCACTTTGTAAGAGTACACACCGCTGCTGCGCAGCTTACCGACAATCTCTACCGGTACGGTACCGAGATCTTCACCAATCACCATACAGCGATGACGTTTACTTTCGAGt < 1:111789/149‑1 (MQ=255) tGCACGGAACGTCTTCTCGTGGTCGTTTTCGAAATAGAGCACTTTGTAAGAGTACACACCGCTGCTGCGCAGCTTACCGACAATCTCTAACGGTACGGTACCGAGATCTTCACCACTCACCAGACAGCGATGACGTTTACTTTAGAGTg < 1:140115/149‑1 (MQ=255) aCGGAACGTCTTCTCGTGGTCGTTTTCGAAATAGAGCACTTTGTAAGAGTACACACCGCTGCTGCGCAGCTTACCGACAATCTCTACCGGTACGGTACCGCGATCTTCACCAATCACCATACAGCGATGACGTTTACTTTAGaccacca > 1:536702/1‑143 (MQ=255) tcttctCGTGGTCGTTTTCGAAATAGAGCACTTTGTAAGAGTACACACCGCTGCTGCGCAGCTTACCGACAATCTCTACCGGTACGGTACCGAGATCTTCACCAATCACCATACAGCGATGACGTTTACTTTCGCGTGCCAGAATCgag > 1:409901/1‑149 (MQ=255) cttctCGTGGTCGTTTTCGGAATAGAGCACTTTGTAAGAGTACACACCGCTGCTGCGCAGCTTACCGACACTCTCTACCGGTACGGTACCGAGATCTTCACCAATCACCATACAGCGATGACGGTTACTTTCAACTGCCACAATCgaga > 2:586732/1‑149 (MQ=255) tcGTGGTCGTTTTCGAAATAGAGCACTTTGTAAGAGTAAACCCCGCTCCACAGTCCACGACCATTAAGCTCTACCGGTACGGTACCGAGATCTTCACCCATCACCCTACAGCGATGACGTTTACTTTCGCGAGCCAGCATCgaagacag > 2:601345/1‑143 (MQ=255) ttttCGAAATAGAGCACTTTGTAAGAGTACACACCGCTGCTGCGCAGCTTACCGACAAGCTCTACCGGTACGGTACCGAGATCTTCACCAATCACCATACAGCGATGACGTTTACTTTCGAGTGCCAGAATCGAGAGCAGATCATCCAc < 1:326599/149‑1 (MQ=255) taaaTAGAGCACTTTGTAAGAGTACACACCGCTTCTGCGCAGCTTACCCGCCATCTCTACCGGTGCGGTACCGAGATCTTCACCAATCACCATACAGCGACAACGCTTACTTTCGGCTACAAGAATGCAGAGAAGATCATGCagagtag > 2:310192/2‑143 (MQ=255) gAAATAGAGCACTTTGTAAGAGAACACACCGCTGCAGCGCAGCTTACCGACAATCACTACCGGTACGGTACGGAGAGCTACACCAATCACAATCCAACCAACACGTTTACATTCGAGTGCCAGAACCGAAACAAGATACTCCACCGGaa > 2:174581/1‑148 (MQ=255) aaTAGAGCACTTTGTAAGAGTACACACCGCTGCTGCGCAGCTTACCGACAATCTCTACCGTTACGGTACCGAGATCTTCACCAATCACCATCCAGCGATGACGTTTACTTTCGAGTGCCGGAATCGAGTGCAGATCATCCCCCGGATAg > 1:186790/1‑149 (MQ=255) agCACTTTGTAAGAGTACAGACCGCTGCTGCGCAGCTTACCGACAATCTCTACCGGTACGGTACCGAGATCTTCACCAATCACCATACAGAGACGACGTGTACTTTCGAGTGCCAGAATCGAGAGCAGATCATCCACCGGATAGTGAAc < 1:483047/149‑1 (MQ=255) cACTTTGTAAGAGTACACACCGCTGCTGCGCAGCTTACCGACAATCTCTACCGGTACGGTACCGAGATCTTCACCACTCACCACACAGCGATGACGTTTACTTTCGAGTGCCAGAGTGGAGAGCGGAGCATACACCGGAGAGTGAACAt > 1:150710/1‑149 (MQ=255) cACTTTGTAAGAGTACACACCGCTGCTGCGCAGCTTACCGACAATCTCTACCGGTACGGTACCGAGATCTTCACCAATCACCATACAGCGATGACGTTTACTTTCGAGTGCCAGAATCGAGAGCAGATGATCCACCGGATAGCGAACAt > 1:384443/1‑149 (MQ=255) tttGTAAGAGTACACACCGCTGCTGCGCAGCTTACCGACAATCTCTACCGGTACGGTACCGAGATCTTCACCAATCACCATACAGCGATGACGTTTACTTTCGAGTGCCAGAATCGAGAGCAGATCATCCACCGGATAGTGAACa > 2:610198/1‑145 (MQ=255) tttGTAAGAGTACACACCGCTGCTGCGCAGCTTACCGACAATCTCTACCGGTACGGTACCGAGATCTTCACCAATCACCATACAGCGATGACGTTTACTTTCGAGTGCCAGAATCGAGAGCAGATCATCCACCGGATAGTGAACa < 1:610198/145‑1 (MQ=255) tttGTAAGAGTACACACCGCTACTGCGCAGCTTACCGACAATCTCTACCGGTACGGTACCGAGATCTTCACGAATCAACATACAGCGCTGACGTTTAAGTTCGAGTGCCAGAAACGCGAGCAGATAATCCACCAGACAGTGAACATAcc > 2:48831/1‑148 (MQ=255) tttgaagaggacacacctctgccgcgcagctttttttttttaatgatacggcgacCACCGAGATCTACACCAATCACCATACAGCGATGACGTTTACTTTCGAGTGCCAGAATCGAGAGCAGATCATCCACCGGATAGTGAACATAcgc < 2:632283‑M2/94‑1 (MQ=255) tAAGAGTACACACCGCTGCTGCGCAGCTTACCGACAATCTCTACCGGTACGGTACCGAGATCTTCACCAATCACCATACAGCGATGACGTTTACCTTCGAGGGCCAGAATCACGACCAGATCATCCACCTCATAGTGAACATAcccccc > 1:159636/1‑144 (MQ=255) agagTACACACCGCTGCTGCGCAGCTTACCGACAAGCTCTACCGGTACGGTACCGAGATCTTCACCAATCACCATACAGCGATGACGTTTACTTTCGAGTGCCAGAATCGAGAGCAGATCACCCACCGGATAGTGAACATACGCGCCCt < 1:573591/149‑1 (MQ=255) gTACACACCGCTGCTGCGCAGCTAACCGACAATCTCTACCGGTACGGTACCGAGATCTTCACCAATCACCATACAGCGATGACGTTTACTTTCGAGTGCCAGAATCGAGAGCAGATCATCCACCGGATAGTGAACATACGCGCCCTGAt < 1:553035/149‑1 (MQ=255) tACACACCGCGGCTGCGCAGCTTACCGTTAATCACTATCGGGACGCTACCGAGATCTACACCAATCACCATACAGCGATGACGTTTACTTTCGAGTGCCAGAATCGAGAGCAGATCATCCACCGGATAGTGAACATACGCGCCCTGATc < 2:512530/149‑1 (MQ=255) cacacCGCTGCTGCGCAGCTTACCGACAATCTCTACCGGTACGGTACCGAGATCTTCACCAATCACCATACAGCGATGACGTTTACTTTCGAGTGCCAGAATCGAGAGCAGATCATCCACCGGATAGTGAACATCCGCGCCCTGATCTg > 1:645759/1‑149 (MQ=255) cGCTGCTGGGCAGCATGCCGATTATCTCTACCGGTACGCCACCGAGATCTACACCAATCACCATACAGCGATGACGTTTACTTTCGAGTGCCAGAATCGAGAGCAGATCATCCACCGGATAGTGAACATACGCGCCCTGATCTGCCGtc < 2:282922/149‑1 (MQ=255) gcAGCTTACCGACAATCTCTACCGGTACGGTACCGAGATCTTCACCAATCACCATACAGCGATGACGTTTACTTTCGAGTGCCAGAATCGAGAGCAGATCATCCACCGGATAGTGAACATACGCGCCCTGATCTGCCGTCTCGCCATAc < 1:545686/149‑1 (MQ=255) cGACAGCCTCGACCGGTACGGTACCGAGATCTACACCAATCCCCATACAGCGATGACGTTTACTTTCGAGTGCCAGAATCGAGAGCAGATCATCCACCGGATAGTGAACATACGCGCCCTGATCTGCCGTCTCGCCATACGGTATccac < 2:445773/149‑1 (MQ=255) ctACCGGTACGGTACCGAGATCTTCACCAATCACCATACAGCGATGACGTTTACTTTCGAGTGCCAGAATCGAGAGCAGATCATCCACCGGATAGTGAACATACGCGCCCTGATCTGCCGTCTCGCCATACGGTATCCACCACAAACgc < 1:129968/149‑1 (MQ=255) tACCGGTACGGTACCGAGATCTTCACCAATCACCATACAGCGATGACGTTTACTTTCGAGTGCCAGAATCGAGAGCGGATCATCCACCGGATAGTGAACATACCCGCCCTGATCTCACGTCTCCCCATCCGTTATCCCCCACAACCgca > 2:1788/1‑149 (MQ=255) aCCGGTACGGTACCGAGATCTTCACCAATCACCATACAGCGATGACGTTTACTTTCGAGTGCAAGAATCGAGAGCAGATCATCCACCGGATAGTGAACATACGCGCCCGGATCTGCCGTGTCGCCCAAAGGGAGCCACcacacgcgagg > 1:377963/1‑142 (MQ=255) cggtacggtaCCGAGATCTTCACCAATCACCATACAGCGATGACGTTTACTTTCGAGTGCCAGAATCGAGAGCAGATCATCCACCGGATAGTGAACATACGCGCCCTGATCTGCCGTCTCGCCATACGGTATCCACCACAAACgcagca < 1:181162/149‑1 (MQ=255) gtacggtacCGAGATCTTCACCAATCACCATACAGCGCTGACGTTTACTTTCGAGTGCCAGAATCGAGAGCAGATCATCCACCGGATAGGGAACATACACACCCGGATCTGCCGTATCCCCCTACCGTATCCACCCCAAACgccgcacc > 2:289198/1‑147 (MQ=255) cggtacCGAGATCTTCACCAATCACCATACAGCGATGAAGTTTACTTTCGAGTACCAGAATCGAGAGCAGATCATCCACCGGATAGTGAACATACGCGCCCTGATCTGCAGTCTCGCAATACGGTATCCACCCCAAACGCAGCATCGAc > 2:465741/1‑149 (MQ=255) | TCATGTGTCGCCGCAACCGCCATCGACTGCTCCGGATACGCTTTCGGTGCACGGAACGTCTTCTCGTGGTCGTTTTCGAAATAGAGCACTTTGTAAGAGTACACACCGCTGCTGCGCAGCTTACCGACAATCTCTACCGGTACGGTACCGAGATCTTCACCAATCACCATACAGCGATGACGTTTACTTTCGAGTGCCAGAATCGAGAGCAGATCATCCACCGGATAGTGAACATACGCGCCCTGATCTGCCGTCTCGCCATACGGTATCCACCACAAACGCAGCATCGAC > NC_000913_3_hsa_tpiA/3548428‑3548718 |
| Alignment Legend |
|---|
Aligned base mismatch/match (shaded by quality score): ATCG/ATCG < 3 ≤ ATCG/ATCG < 8 ≤ ATCG/ATCG < 12 ≤ ATCG/ATCG < 22 ≤ ATCG/ATCG < 41 ≤ ATCG/ATCG |
Unaligned base: atcg Masked matching base: atcg Alignment gap: ‑ Deleted base: ‑ |
| Reads not counted as support for junction |
| read_name Not counted due to insufficient overlap past the breakpoint. |
| read_name Not counted due to not crossing MOB target site duplication. |