Predicted mutation
evidence seq id position mutation annotation gene description
MC JC NC_000913_3_hsa_tpiA 3,815,859 Δ82 bp [rph][rph] [rph], [rph]

Missing coverage evidence...
   seq id start end size ←reads reads→ gene description
* * ÷ NC_000913_3_hsa_tpiA 3815859 3815940 82 34 [0] [0] 34 [rph]–[rph] [rph],[rph]

New junction evidence
  seq id position reads (cov) reads (cov) score skew freq annotation gene product
* ? NC_000913_3_hsa_tpiA = 38158580 (0.000)33 (0.770) 30/260 0.5 100% pseudogene (24/48 nt) rph ribonuclease PH (defective);enzyme; Degradation of RNA; RNase PH
?NC_000913_3_hsa_tpiA 3815941 = 0 (0.000)pseudogene (609/669 nt) rph ribonuclease PH (defective);enzyme; Degradation of RNA; RNase PH

GACAAAAAAAAGGCGACTCATCAGTCGCCTTAAAAATCAGTTTGCCAGCGCCGCCTTCTGCGTCGCTACAATGGATTCGATTCCCCTCGGGCCAGAGCCAACAAGATGAGTAGCTCTTCATGGGTGAACGGCTCGCCTTCTGCCGTCCCCTGCACTTCAATGATGCGCCCGTCTTCGGTCATCACTACGTTCATGTCGGTCTCTGCGGCAGAGTCTTCAACGTATTCCAGATCGCAAACCGCTTCGCCGTTCACAATTCCGACAGAAACTGCGGCTACCATCCC  >  NC_000913_3_hsa_tpiA/3815798‑3816081
                                                                                                                                               |                                                                                                                                            
aacacctgcttgctaagcgcaaattcaataaactggcgctgatatggtttcatgccttcgctcctcatcttacttttctacagacaaaaaaaaggcgactcatcagtcgccttaaaaatcagtttgccagcgccgccttctgcCGTccc                                                                                                                                         <  2:125172‑M2/6‑1 (MQ=255)
       gcttgctaagcgcaaattcaataaactggcgctgatatggtttcatgccttcgctcctcatcttacttttctacagacaaaaaaaaggcgactcatcagtcgccttaaaaatcagtttgccagcgccgccttctgcCGTCCCCTGCACt                                                                                                                                  >  1:677740‑M2/137‑149 (MQ=255)
               agcgcaaattcaataaactggcgctgatatggtttcatgccttcgctcctcatcttacttttctacagacaaaaaaaaggcgactcatcagtcgccttaaaaatcagtttgccagcgccgccttctgcCGTCCCCTGCACTTCAatgat                                                                                                                          >  1:314105‑M2/129‑149 (MQ=255)
               agcgcaaattcaataaactggcgctgatatggtttcatgccttcgctcctcatcttacttttctacagacaaaaaaaaggcgactcatcagtcgccttaaaaatcagtttgccagcgccgccttctgcCGTCCCCTGCACTTCAatgat                                                                                                                          <  1:36839‑M2/21‑1 (MQ=255)
                acgcaaattcaacaacatggtgcgtatatggtttcatgccttcgttcctcatcttacttttctccagacaaaaaaaaggcgactcatcagtcgccttaaaaatcagtttgccagcgccgccttctgcCGTCCCCTGCACTTCAatgatg                                                                                                                         <  2:512583‑M2/22‑1 (MQ=255)
                  gcaaattcaataaactggcgctgatatggtttcatgccttcgctcctcatcttacttttctacagacaaaaaaaaggcgactcatcagtcgccttaaaaatcagtttgccagcgccgccttctgcCGTCCCCTGCACTTCAATGATgcg                                                                                                                       >  1:173237‑M2/126‑149 (MQ=255)
                       ttcaataaactggcgctgatatggtttcatgccttcgctcctcatcttacttttctacagacaaaaaaaaggcgactcatcagtcgccttaaaaatcagtttgccagcgccgccttctgcCGTCCCCTGCACTTCAATGATGCGCCCGt                                                                                                                  >  2:506497‑M2/121‑149 (MQ=255)
                          aataaactggcgctgatatggtttcatgccttcgctcctcatcttacttttctacagacaaaaaaaaggcgactcatcagtcgccttaaaaatcagtttgccagcgccgccttctgcCGTCCCCTGCACTTCAATGATGCGCCCGTCtt                                                                                                               >  2:5375‑M2/118‑149 (MQ=255)
                              aactggcgctgatatggtttcatgccttcgctcctctttttacttttctacagacaaaaaaaaggcgactcatcagtcgccttaaaaatcagtttgccagcgccgccttctgcCGTCCCCTGCACTTCAATGATGCGCCCGTCTTCGGt                                                                                                           <  2:421315‑M2/36‑1 (MQ=255)
                               actggcgctgatatggtttcatgccttcgctcctcatcttacttttctacagacaaaaaaaaggcgactcatcagtcgccttaaaaatcagtttgccagcgccgcctcattcCGTCCCCTGCACTTCAATGATGCGCCCGTCTTCGGtc                                                                                                          <  1:805633‑M2/37‑1 (MQ=255)
                                         atatggtttcatgccttcgctcctcatcttacttttctacagacaaaaaaaaggcgactcatcagtcgccttaaaaatcagtttgccagcgccgccttctgcCGTCCCCTGCACTTCAATGATGCGCCCGTCTTCGGTCATCACTACGt                                                                                                >  1:814783‑M2/103‑149 (MQ=255)
                                          tatggtttcatgccttcgctcctcatcttacttttctacagacaaaaaaaaggcgactcatcagtcgccttaaaaatcagtttgccagcgccgccttctgcCGTCCCCTGCACTTCAATGATGCGCCCGTCTTCGGTCATCACTACGtt                                                                                               <  1:456081‑M2/48‑1 (MQ=255)
                                           atggtttcatgccttcgctcctcatcttacttttctacagacaaaaaaaaggcgactcatcagtcgccttaaaaatcagtttgccagcgccgccttctgcCGTCCCCTGCACTTCAATGATGCGCCCGTCTTCGGTCATCACTACGTTc                                                                                              >  1:115643‑M2/101‑149 (MQ=255)
                                                 tcatgccttcgctcctcatcttacttttctacagacaaaaaaaaggcgactcatcagtcgccttaaaaatcagtttgccagcgccgccttctgcCGTCCCCTGCACTTCAATGATGCGCCCGTCTTCGGTCATCACTACGTTCATGTCg                                                                                        <  1:542111‑M2/55‑1 (MQ=255)
                                                            ctcctcatcttacttttctacagacaaaaaaaaggcgactcatcagtcgccttaaaaatcagtttgccagcgcagccttctgcCGTCCCCTGCACTTCAATGATGCGCCCGTCTTCGGTCATCACTACGTTCATGTCGGTCTCTGCGGc                                                                             >  1:565822‑M2/84‑149 (MQ=255)
                                                                tcatcttacttttctacagacaaaaaaaaggcgactcatcagtcgccttaaaaatcagtttgccagcgccgccttctgcCGTCCCCTGCACTTCAATGATGCGCCCGTCTTCGGTCATCACTACGTTCATGTCGGTCTCTGCGGCagag                                                                         <  2:814783‑M2/70‑1 (MQ=255)
                                                                    cttacttttctacagacaaaaaaaaggcgactcatcagtcgccttaaaaatcagtttgccagcgccgccttctgcCGTCCCCTGCACTTCAATGATGCGCCCGTCTTCGGTCATCACTACGTTCATGTCGGTCTCTGCGGCAGAGTCtt                                                                     >  2:197550‑M2/76‑149 (MQ=255)
                                                                        gttttcgacagacgaaaaaaaggcgactcatcagtcgccttaaaaatcagtttgccagcgccgccttctgcCGTCCCCTGCACTTCAATGATGCGCCCGGCTTCGGTCATCACTACGTTCATGTCGGTCTCTGCGGCAGAGTCTTCAAc                                                                 <  2:758220‑M2/78‑1 (MQ=255)
                                                                         ttttctacagacaaaaaaaaggcgactcatcagtcgccttaaaaatcagtttgccagcgccgccttctgcCGTCCCCTGCACTTCAATGATGCGCCCGTCTTCGGTCATCACTACGTTCATGTCGGTCTCTGCGGCAGAGTCTtcaagg                                                                >  1:290537‑M2/71‑147 (MQ=255)
                                                                         ttttctacagacaaaaaaaaggcgactcatcagtcgccttaaaaatcagtttgccagcgccgccttctgcCGTCCCCTGCACTTCAATGATGCGCCCGTCTTCGGTCATCACTACGTTCATGTCGGTCTCTGCGGCAGAGTCTTCAACg                                                                >  1:520894‑M2/71‑149 (MQ=255)
                                                                         ttttctacagacaaaaaaaaggcgactcatcagtcgccttaaaaatcagtttgccagcgccgccttctgcCGTCCCCTGCACTTCAATGATGCGCCCGTCTTCGGTCATCACTACGTTCATGTCGGTCTCTGCGGCAGAGTCTTCAACg                                                                >  1:2983‑M2/71‑149 (MQ=255)
                                                                              tacagacaaaaaaaaggcgactcatcagtcgccttaaaaatcagtttgccagcgccgccttctgcCGTCCCCTGCACTTCAATGATGCGCCCGTCTTCGGTCATCACTACGTTCATGTCGGTCTCTGCGGCAGAGTCTTCAACGTATTc                                                           >  2:495598‑M2/66‑149 (MQ=255)
                                                                                  gcccaaaaaaaggcgcctcgtcactctccttaaaaatcagtttgccagcgccgccttctgcCGTCCCCTGCACTTCAATGATGCGCCCGTCTTCGGTCATCACTACGTTCATGTCGGTCTCTGCGGCAGAGTCTTCAACGTattcccca                                                       <  2:143552‑M2/88‑4 (MQ=255)
                                                                                    caaaaaaaaggcgactcatcagtcgccttaaaaatcagtttgccagcgccgccttctgcCGTCCCCTGCACTTCAATGATGCGCCCGTCTTCGGTCATCACTACGTTCATGTTGGTCTCTTCGGCAGAGTCTTCAACGTATTCCAGATc                                                     <  1:197550‑M2/90‑1 (MQ=255)
                                                                                     aaaaaaaaggcgactcatcagtcgccttaaaaatcagtttgccagcgccgccttctgcCGTCCCCTGCACTTCAATGATGCGCCCGTCTTCGGGCATCACTACGTTCATGTCGGTCTCTGCGGCAGAGTCCTCAACGTATTCCAGACCg                                                    >  2:226703‑M2/59‑149 (MQ=255)
                                                                                             ggcgactcatcagtcgccttaaaaatcagtttgccagcgccgccttctgcCGTCCCCTGCACTTCAATGATGCGCCCGTCTTCGGTCATCACTACGTTCATGTCGGTCTCTGCGACa                                                                            <  2:213306‑M2/67‑1 (MQ=255)
                                                                                             ggcgactcatcagtcgccttaaaaatcagtttgccagcgccgccttctgcCGTCCCCTGCACTTCAATGATGCGCCCGTCTTCGGTCATCACTACGTTCATGTCGGTCTCTGCGACa                                                                            >  1:213306‑M2/51‑117 (MQ=255)
                                                                                                            gccttaaaaatcagtttgccagcgccgccttctgcCGTCCCCTGCACTTCAATGATGCGCCCGTCTTCGGTCATCACTACGTTCATGTCGGTCTCTGCGGCAGAGTCTTCAACGTATTCCAGATCCCAAACCGCTCCGCCGTTCCCAAt                             >  2:112246‑M2/36‑149 (MQ=255)
                                                                                                             ccttaaaaatcagtttgccagcgccgccttctgcCGTCCCCTGCACTTGCCTAATGCGCCCGTCTTCGGTCATCACTACGTTCATGTCGGTCTCTGCGGCAGAGTCTTCAACGTATTCCAGATCGCAAACCGCTTCGCAGTTCTCACtt                            >  1:769493‑M2/35‑149 (MQ=255)
                                                                                                               ttaaaaatcagtttgccagcgccgccttctgcCGTCCCCTGCACTTCAATGATGCGCCCGTCTTCGGTCATCACTACGTTCATGTCGGTCTCTGCGGCAGAGTCTTCAACGTATTCCAGATCGCAAACCGCTTCGCCGTTCACAATTcc                          <  1:306721‑M2/117‑1 (MQ=255)
                                                                                                                 aaaaatcagtttgccagcgccgccttctgcCGTCCCCTGCACTTCAATGATGCGCCCGTCTTCGGTCATCACTACGTTCATGTCGGTCTCTGCGGCAGAGTCTTCAACGTATTCCAGATCGCAAACCGCTTCGCCGTTCACAATTCCGa                        <  1:246950‑M2/119‑1 (MQ=255)
                                                                                                                           ttgccagcgccgccttctgcCGTCCCCTGCACTTCAATGATGCGCCCGTCTTCGGTCATCACTACGTTCATGTCGGTCTCTGCGGCAGAGTCTTCAACGTATTCCAGATCGCAAACCGCTTCGCCGTTCACAATTCCGACAGAAACTGc              <  1:506497‑M2/129‑1 (MQ=255)
                                                                                                                            tgccagcgccgccttctgcCGTCCCCTGCACTTCAATGATGCGCCCGTCTTCGGTCATCACTACGTCCATGTGGGTCTCTGCGGCAGAGTCTTCAACGTATTCCAGATCGCAAACCGCTTCGCCGTTCACAATTCCGACAGAAACTGCg             >  1:523921‑M2/20‑149 (MQ=255)
                                                                                                                                       ccttctgcCGTCCCCTGCACTTCAATGATGCGCCCGTCTTCGGTCATCACTACGTTCATGTCGGTCTCTGCGGCAGAGTCTTCAACGTATTCCAGATCGCAAACCGCTTCGCCGTTCACCATTCCGACAGAAACTGCGGCTACCATccc  >  2:392169‑M2/9‑149 (MQ=255)
                                                                                                                                               |                                                                                                                                            
GACAAAAAAAAGGCGACTCATCAGTCGCCTTAAAAATCAGTTTGCCAGCGCCGCCTTCTGCGTCGCTACAATGGATTCGATTCCCCTCGGGCCAGAGCCAACAAGATGAGTAGCTCTTCATGGGTGAACGGCTCGCCTTCTGCCGTCCCCTGCACTTCAATGATGCGCCCGTCTTCGGTCATCACTACGTTCATGTCGGTCTCTGCGGCAGAGTCTTCAACGTATTCCAGATCGCAAACCGCTTCGCCGTTCACAATTCCGACAGAAACTGCGGCTACCATCCC  >  NC_000913_3_hsa_tpiA/3815798‑3816081

Alignment Legend
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: