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 = 354854934 (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)

CTCCGGATACGCTTTCGGTGCACGGAACGTCTTCTCGTGGTCGTTTTCGAAATAGAGCACTTTGTAAGAGTACACACCGCTGCTGCGCAGCTT‑‑‑‑‑‑‑‑‑‑‑‑‑‑‑‑‑‑‑‑‑‑‑‑‑‑‑‑‑‑‑‑‑‑‑‑‑‑‑‑‑‑‑‑‑‑‑‑‑‑‑‑‑‑‑‑‑‑‑‑‑‑‑‑‑‑‑‑‑‑‑‑‑‑‑‑‑‑‑‑‑‑‑‑‑‑‑‑‑‑‑‑‑‑‑‑‑‑‑‑‑‑‑‑‑‑‑‑‑‑‑‑‑‑‑‑‑  >  NC_000913_3_hsa_tpiA/3548457‑3548549
‑‑‑‑‑‑‑‑‑‑‑‑‑‑‑‑‑‑‑‑‑‑‑‑‑‑‑‑‑‑‑‑‑‑‑‑‑‑‑‑‑‑‑‑‑‑‑‑‑‑‑‑‑‑‑‑‑‑‑‑‑‑‑‑‑‑‑‑‑‑‑‑‑‑‑‑‑‑‑‑‑‑‑‑‑‑‑‑‑‑‑‑‑‑‑‑‑‑‑‑‑‑‑‑‑‑‑‑‑‑‑‑‑‑‑‑TACCGAGATCTTCACCAATCACCATACAGCGATGACGTTTACTTTCGAGTGCCAGAATCGAGAGCAGATCATCCACCGGATAGTGAACATACGC  >  NC_000913_3_hsa_tpiA/3548573‑3548666
                                                                                             |||||||||||||||||||||||                                                                                              
CTCCGGTGACGCTTTCGGTGCACGGAACGTCTTCTCTTGGTCGTTTTCGAAATAGATCGCTTTGTAAGAGTACACACCGCTGCTGCGCAGCTTTTTGTTTTTCATGATCCGGCGGGCACCGAGATCTACACCAATCACCATACAGCGAT                                                               <  2:98282/149‑1
   CGGATACGTTTTCGGTCCACGGAACGTCTTCTCGTGGGCGTTTTCGAAATAGTGCATTTTGTAAGAGTACCCACCGCTGTTGCGCAGCTTTTTTTTTTTAATGATACGGCGACCACCGAGATCTACACCAATCACCATACAGCGATGAC                                                            <  2:158791/149‑1
   CGGATACGCTTACGGTGCACGGAACGTCTTCTCGTGGTCGTTTTCGAAATAGAGTACTTTGTAAGAGTACACACCGCTGCTGCGCAGCTTATTGTTTTTAATGATACGGCGAGCACCGAGATCTACACCAATCACCATACAGCGATGAC                                                            <  2:368296/149‑1
            TTTCTGTGTACGGAACGGCTTCTCTTGGTCGTTGTCGAAATAGAGCATTTTGTAAGAAGACACACCGCTGCTGCGCCGATTTTGTTTTTTAATGATACGGCGACCACCGAGATCTACACCAATCACCATACAGCGATGACGTTTACTTT                                                   <  2:213522/149‑1
             TTCGGTGCAGGGAACGTCTTCTCGTGGTCGTTTGTGAAATTGAGCACTTTGTAATAGTACACACCGCTGCTGCGCAGTTTTTTTTTTTTAATGATACGGCGACCACCGAGATCTACACCAATCACCATACAGCGATGACGTTTACTTTC                                                  <  2:381381/149‑1
                GGTGAACGGAAGGTCTTCTCGTTGTTGTTTTCGAACTAGACCTCTTTGTAAGAGTACACACCGCCGCTGCGCATCTTTTTTTTTTTAATGATACGGCGACCACCGAGATCTACACCAATCACCATACAGCGATGACGTTTACTTTCGAG                                               <  2:74321/149‑1
                                                             tttgAAGAGGACACACCTCTGCCGCGCAGCTTTTTTTTTTTAATGATACGGCGACCACCGAGATCTACACCAATCACCATACAGCGATGACGTTTACTTTCGAGTGCCAGAATCGAGAGCAGATCATCCACCGGATAGTGAACATACGC  <  2:632283/145‑1
                                                                                             |||||||||||||||||||||||                                                                                              
CTCCGGATACGCTTTCGGTGCACGGAACGTCTTCTCGTGGTCGTTTTCGAAATAGAGCACTTTGTAAGAGTACACACCGCTGCTGCGCAGCTT‑‑‑‑‑‑‑‑‑‑‑‑‑‑‑‑‑‑‑‑‑‑‑‑‑‑‑‑‑‑‑‑‑‑‑‑‑‑‑‑‑‑‑‑‑‑‑‑‑‑‑‑‑‑‑‑‑‑‑‑‑‑‑‑‑‑‑‑‑‑‑‑‑‑‑‑‑‑‑‑‑‑‑‑‑‑‑‑‑‑‑‑‑‑‑‑‑‑‑‑‑‑‑‑‑‑‑‑‑‑‑‑‑‑‑‑‑  >  NC_000913_3_hsa_tpiA/3548457‑3548549
‑‑‑‑‑‑‑‑‑‑‑‑‑‑‑‑‑‑‑‑‑‑‑‑‑‑‑‑‑‑‑‑‑‑‑‑‑‑‑‑‑‑‑‑‑‑‑‑‑‑‑‑‑‑‑‑‑‑‑‑‑‑‑‑‑‑‑‑‑‑‑‑‑‑‑‑‑‑‑‑‑‑‑‑‑‑‑‑‑‑‑‑‑‑‑‑‑‑‑‑‑‑‑‑‑‑‑‑‑‑‑‑‑‑‑‑TACCGAGATCTTCACCAATCACCATACAGCGATGACGTTTACTTTCGAGTGCCAGAATCGAGAGCAGATCATCCACCGGATAGTGAACATACGC  >  NC_000913_3_hsa_tpiA/3548573‑3548666

Alignment Legend
Aligned base mismatch/match (shaded by quality score): ATCG/ATCG < 3 ≤ ATCG/ATCG < 8 ≤ ATCG/ATCG < 12 ≤ ATCG/ATCG < 13 ≤ 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.