Predicted mutation
evidence seq id position mutation annotation gene description
RA NC_000913_3_hsa_tpiA 3,815,810 Δ1 bp intergenic (‑42/+24) pyrE ← / ← rph orotate phosphoribosyltransferase/ribonuclease PH (defective);enzyme; Degradation of RNA; RNase PH

Read alignment evidence...
  seq id position ref new freq score (cons/poly) reads annotation genes product
*NC_000913_3_hsa_tpiA3,815,8090G.92.3% 152.2 / 5.6 39intergenic (‑41/+25)pyrE/rphorotate phosphoribosyltransferase/ribonuclease PH (defective);enzyme; Degradation of RNA; RNase PH
Reads supporting (aligned to +/- strand):  ref base G (0/0);  major base . (20/16);  minor base A (1/2);  total (21/18)
Fisher's exact test for biased strand distribution p-value = 5.86e-01
Kolmogorov-Smirnov test that lower quality scores support variant p-value = 9.96e-01

GTTGAAGAAATAGGGGCTTTTGCGCCCGGATTTCAGCGTAAACTCGCCAAACTTTAACACCTGCTTGCTAAGCGCAAATTCAATAAACTGGCGCTGATATGGTTTCATGCCTTCGCTCCTCATCTTACTTTTCTACAGACAAAAAAAAGGCGACTCATCAGTCGCCTTAAAAATCAGTTTGCCAGCGCCGCCTTCTGCGTCGCTACAATGGATTCGATTCCCCTCGGGCCAGAGCCAACAAGATGAGTAGCTCTTCATGGGTGAACGGCTCGCCTTCTGCCGTCCCCTGCACT  >  NC_000913_3_hsa_tpiA/3815661‑3815953
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gTTGAAGAAATAGGGGCTTTTGCGCCCGGATTTCAGCGTAAACTCGCCAAACTTTAACACCTGCTTGCTAAGCGCAAATTCAATAAACTGGCGCTGATATGGTTTCATGCCTTCGCTCCTCATCTTACTTTTCTACAGACAAAAAAAAg                                                                                                                                                  >  1:121312/1‑149 (MQ=255)
gTTGAAGAAATAGGGGCTTTTGCGCCCGGATTTCAGCGTAAACTCGCCAAACTTTAACACCTGCTTGCTAAGCGCAAATTCAATAAACTGGCGCTGATATGGTTTCATGCCTTCGCTCCTCATCTTACTTTTCTACAGACAAAAAAAAg                                                                                                                                                  <  1:9175/149‑1 (MQ=255)
            ggggCTTTTGCGCCCGGATTTCAGCGTAAACTCGCCAAACTTTTACACCTGCTTGCTATGCGCAAATTCAATAAACTGGCGCTGATATGGTTTCATGCCTTCGCTCCTCATCTAACTTTTCTACAGACAAAAAAAA‑GCCACTCATCAGt                                                                                                                                     >  1:233866/1‑149 (MQ=255)
             gggCTTTTGCGCCCGGATTTCAGCGTAAACTCGCCAAACTTTAACACCTGCTTGCTAAGCGCAAATTCAATAAACTGGCGCTGATATGGTTTCATGCCTTCGCTCCTCATCTTACTTTTCTACAGACAAAAAAAA‑GCGACTCATCAGTc                                                                                                                                    >  1:96154/1‑149 (MQ=255)
                         ccGGATTTCAGCGTAAACTCGCCAAACTTTAACACCTGCTTGCTAAGCGCAAATTCAATAAACTGGCGCTGATATGGTTTCATGCCTTCGCTCCTCATCTTACTTTTCTACAGACAAAAAAAA‑GCGACTCATCAGTCGCCTTAAAAATc                                                                                                                        >  1:188241/1‑149 (MQ=255)
                             aTTTCAGCTGAAATTCGCCAAACTTTAACACCTGCTTGCTAAGCGCAAATTCAATAACCTGGCCCTGATATGGTTTCATGCCTTCGCTCCTCATCTTACTTTTCTACATACAAAAAAAA‑GCGACTCATCAGTCGCCTTAAAAATCAGtt                                                                                                                    <  1:69632/149‑1 (MQ=255)
                                  aGCGTAAACTCGCCAAACTTTAACACCTGCTTGCTAAGCGCAAATTCAATAAACTGGCGCTGATATGGTTTCATGCCTTCGCTCCTCATCTTACTTTTCTACAGACAAAAAAAA‑GCGACTCATCAGTCGCCTTAAAAATCAGTTTGCCa                                                                                                               <  1:334311/149‑1 (MQ=255)
                                  aGCGTAAACTCGCCAAACTTTAACACCTGCTTGCTAAGCGCAAATTCAATAAACTGGCGCTGATATGGTTTCATGCCTTCGCTCCTCATCTTACTTTTCTACAGACAAAAAAAA‑GCGACTCATCAGTCGCCTTAAAAATCAGTTTGCCa                                                                                                               >  1:532023/1‑149 (MQ=255)
                                  aGCGTAAACTCGCCAAACTTTAACACCTGCTTGCTAAGCGCAAATTCAATAAACTGGCGCTGATATGGTTTCATGCCTTCGCTCCTCATCTTACTTTTCTACAGACAAAAAAAA‑GCGACTCATCAGTCGCCTTAAAAATCAGTTTGCCa                                                                                                               >  1:567337/1‑149 (MQ=255)
                                              ccAAACTTTAACACCTGCTTGCTAAGCGCAAATTCAATAAACTGGCGCTGATATGGTTTCATGCCTTCGCTCCTCATCTTACTTTTCTACAGACAAAAAAAA‑GCGACTCATCAGTCGCCTTAAAAATCAGTTTGCCAGCGCCGCCTTCt                                                                                                   >  2:449702/1‑149 (MQ=255)
                                              ccAAACTTTAACACCTGCCTGCTAAGCGCAAATTCAATAAACTGGCGCTTATATGGTTTCATGCCTTCGCTCCTCATCTTACTTTTCTACAGACAAAAAAAA‑GCGACTCATCAGTCGCCTTAAAAATCAGTTTGCCAGCGCCGCCTTCt                                                                                                   <  1:677319/149‑1 (MQ=255)
                                                   cTTTAACACCTGCTTGCTAAGCGCAAATTCAATAAACTGGCGCTGATATGGTTTCATGCCTTCGCTCCTCATCTTACTTTTCTACAGACAAAAAAAA‑GCGACTCATCAGTCGCCTTAAAAATCAGTTTGCCAGCGCCGCCTTCTGCGTc                                                                                              <  2:121312/149‑1 (MQ=255)
                                                          acCTGCTTGCTAAGCGCAAATTCAATAAACTGGCGCTGATATGGTTTCATGCCTTCGCTCCTCATCTTACTTTTCTACAGACAAAAAAAA‑GCGACTCATCAGTCGCCTTAAAAATCAGTTTGCCAGCGCCGCCTTCTGCCTCGCTACaa                                                                                       >  2:98161/1‑149 (MQ=255)
                                                              gcttgctAAGCGCAAATTCAATAAACTGGCGCTGATATGGTTTCATGCCTTCGCTCCTCATCTTACTTTTCTACAGACAAAAAAAA‑GCGACTCATCAGTCGCCTTAAAAATCAGTTTGCCAGCGCCGCCTTCTGCTTCGCTACAATGga                                                                                   >  1:237997/1‑149 (MQ=255)
                                                                   ctAAGCGCAAATGTAATAAACTGGCGATGATATGGTTTCATGCCTTCGCTCCTCATCTAACTTTTCTACAGACAAAAAAAA‑GCGACTCATCAGTCGCCTTAAAAATCAGTTTGCCAGCGCCGCCTTCTGCGTCGCTATGATGcattcga                                                                              <  2:757562/149‑1 (MQ=255)
                                                                    tAAGCGCAAATTCAATAAACTGGCGCTGATATGGTTTCATGCCTTCGCTCCTCATCTTACTTTTCTACAGACAAAAAAAA‑GCGACTCATCAGTCGCCTTAAAAATCAGTTTGCCAGCGCCGCCTTCTTCGTCGCTACAATGgattcgat                                                                             >  1:441139/1‑149 (MQ=255)
                                                                      aGCGCAAATTCAATAAACTGGCGCTGATATGGTTTCATGCCTTCGCTCCTCATCTTACTTTTCTACAGACAAAAAAAA‑GCGACTCATCAGTCGCCTTAAAAATCAGTTTGCCAGCGCCGCCTTCTGCGTCGCTACAATGgattcgattc                                                                           <  2:532023/149‑1 (MQ=255)
                                                                      aGCGCAAATTCAATAAACTGGCGCTGATATGGTTTCATGCCTTCGCTCCTCATCTTACTTTTCTACAGACAAAAAAAA‑GCGACTCATCAGTCGCCTTAAAAATCAGTTTGCCAGCGCCGCCTTCTGCGTCGCTACAATGgattcgattc                                                                           >  1:397081/1‑149 (MQ=255)
                                                                      aGCGCAAATTCAATAAACTGGCGCTGATATGGTTTCATGCCCTCGCTCCTCATCTTACTTTTCAACAGAAAAAAAAAA‑GCGACTCATCAGTCGCCTTAAAAATCAGTTTGCCAGCGCCGCCTTCTGCGTCGCTACAATGgattcgattc                                                                           <  1:617594/149‑1 (MQ=255)
                                                                      aGCGCAAATTCAATAAACTGGCGCTGATATGGTTTCAGGCCTTCGCTCCTCATCTTACTTTTCTACAGACAAAAAAAA‑GCGACTCATCAGTCGCCTTAAAAATCAGTGTGCCAGCGCCGCCTTCTGCGTCGCTACAATGgattcgattc                                                                           <  1:669927/149‑1 (MQ=255)
                                                                       gcgcAAATTCAATAAACTGGCGCTGATATGGTTTCATGCCTTCGCTCCTCATCTTACTTTTCTACAGACAAAAAAAA‑GCGACTCATCAGTCGCCTTAAAAATCAGTTTGCCAGCGCTCGCATCTGCGTCGCTACAATGGATTCGATTcc                                                                          >  1:161947/1‑149 (MQ=255)
                                                                           aaaTTCAATAAACTGGCGCTGATATGGTTTCATGCCTTCGCTCCTCATCTTACTTTTCTACAGACAAAAAAAA‑GCGACTCATCAGTCGCCTTAAAAATCAGTTTGCCAGCGCCGCCTTCTGCGTCGCTACAATGGATTCGATTCCCCTc                                                                      >  1:696253/1‑149 (MQ=255)
                                                                            aaTTCAATAAACTGGCGCTGATATGGTTTCATGCCTTCGCTCCTCATCTTACTTTTCTACAGACAAAAAAAA‑GCGACTCATCAGTCGCCTTAAAAATCAGTTTGCCAGCGCCGCCTTCTGCGTCGCTACAATGGATTCGATTCCCCTCg                                                                     >  2:694041/1‑149 (MQ=255)
                                                                                     aaCTGGGCCTGATATGGTTCCATGCCTTCGCTCCTCATCTTACTTTTCAACAGACAAAAAAAA‑GCGACTCATCAGTCGCCTTAAAAATCAGTTTGCCAGCGCCGCCTTCTGCGTCGCTACAATGGATTCGATTCCCCTCGGGCCAGAGc                                                            <  2:161947/149‑1 (MQ=255)
                                                                                     aaCTGGCGCTGATATGGTTTCATGCCTTCGCTCCTCATCTTACTTTTCTACAGACAAAAAAAA‑GCGACTCATCAGTCGCCTTAAAAATCAGTTTGCCAGCGCCGCCTTCTGCGTCGCTACAATGGATTCGATTCCCCTCGGGCCAGAGc                                                            >  1:3672/1‑149 (MQ=255)
                                                                                     aaCTGGCGCTGATATGGTTTCATGCCTTCGCTCCTCATCTTACTTTTCTACAGACAAAAAAAA‑GCGACCCATCAGTCGCCTTAAAAATCAGTTTGCCAGCTCCGCCTTCCACGTCCCTACAATGGATTCGATTGCCCTCGGTCCacctc                                                            >  1:833430/1‑145 (MQ=255)
                                                                                        tGGCGCTGATATGGTTTCATGCCTTCGCTCCTCATCTTACTTTTCTACAGACAAAAAAAA‑GCGACTCATCAGTCGCCTTAAAAATCAGTTTGCCAGCGCCGCCTTCTGCGTCGCTACAATGGATTCGATTCCCCTCGGGCCAGAGCcaa                                                         >  2:507517/1‑149 (MQ=255)
                                                                                           ctcTGATATCGTTTCTTGCCGCTGATCCTCATCTTGCTTTAAAAAAAA‑AAAAAAAAAGCGACTCATCAGTCGCCTTAAAAATCAGTTTGCCAGCGCCGCCTTCTGCGTCGCTACAATGGATTCGATTCCCCTCGGGCCAGAGCcaacaa                                                      <  2:865620/147‑1 (MQ=255)
                                                                                                atatGGTTTCATGCCTTCGCTCCTCATCTTACTTTTCTACAGACAAAAAAAA‑GCGACTCATCAGTCGCCTTAAAAATCAGTTTGCCAGCGCCGCCTTCTGCGTCGCTACAATGGATTCGATTCCCCTCGGGCCAGAGCCAACAAGATGa                                                 <  1:361290/149‑1 (MQ=255)
                                                                                                atatGGTTTCATGCCTTCGCTCCTCATCTTACTTTTCTACAGACAAAAAAAA‑GCGACTCATCAGTCGCCTTAAAAATCAGTTTGCCAGCGCCGCCTTCTGCGTCGCTACAATGGATTCGATTCCCCTCGGGCCAGAGCCAACAAGATGa                                                 <  2:3672/149‑1 (MQ=255)
                                                                                                          aTGCCTTCGCTCCTCATCTTACTTTTCTACAGACAAAAAAAA‑GCGACTCATCAGTCGCCTTAAAAATCAGTTTGCCAGCGCCGCCTTCTGCGTCGCTACAATGGATTCGATTCCCCTCGGGCCAGAGCcaa                                                         >  1:522094/1‑131 (MQ=255)
                                                                                                          aTGCCTTCGCTCCTCATCTTACTTTTCTACAGACAAAAAAAA‑GCGACTCATCAGTCGCCTTAAAAATCAGTTTGCCAGCGCCGCCTTCTGCGTCGCTACAATGGATTCGATTCCCCTCGGGCCAGAGCcaa                                                         <  2:522094/131‑1 (MQ=255)
                                                                                                              cTTCGCTCCTCATCTTACTTTTCTACAGACAAAAAAAA‑GCGACTCATCAGTCGCCTTAAAAATCAGTTTGCCAGCGCCGCCTTCt                                                                                                   <  1:195016/85‑1 (MQ=255)
                                                                                                              cTTCGCTCCTCATCTTACTTTTCTACAGACAAAAAAAA‑GCGACTCATCAGTCGCCTTAAAAATCAGTTTGCCAGCGCCGCCTTCt                                                                                                   >  2:195016/1‑85 (MQ=255)
                                                                                                              cTTCGCTCCTCATCTTACTTTTCTACAGACAAAAAAAA‑GCGACTCATCAGTCGCCTTAAAAATCAGTTTGCCAGCGCCGCCTTCTGCGTCGCTACAATGGATTCGATTCCCCTCGGGCCAGAGCCAACAAGATGAGTAGCTCTTCATgg                                   <  1:449702/149‑1 (MQ=255)
                                                                                                                    tcctcATCTTACTTTTCTACAGACAAAAAAAA‑GCGACTCATCAGTCGCCTTAAAAATCAGTTTGCCAGCGCCGCCTTCTGCGTCGCTACAATGGATTCGATTCCCCTCGGGCGGGATCCAACAAGATGAGTAGCTCTTCATGGGTGAAc                             <  2:188241/149‑1 (MQ=255)
                                                                                                                    gcctcATCTTACTTTTCTACAAACAAAAAAAA‑GCGACTCATCAGTCGCCTTAAAAATCAGTTTGCCAGCGCCGCCTTCTGCGTCTCTACAATGGATTCGATTCCCCTCGGGCCAGAGCCAACAAGATGAGTAGCTCTTCATGGGTGAAc                             <  2:49387/148‑1 (MQ=255)
                                                                                                                                ttttCTACAGACAAAAAAAA‑GCGACTCATCAGTCGCCTTAAAAATCAGATTGCCAGCGCCGCCATCTGCGTCGCTACAATGGATTCGATTCCCCTCGGGCCAGAGCCAACAAGATGAGTAGCTCTTCATGGGTGTACGGCTCTCCTTCt                 >  1:764840/1‑149 (MQ=255)
                                                                                                                                        aGACAAAAAAAA‑GCGACTCATCAGTCGCTTTAAGAATCAGTTTGCCAGCGCCGCCTTCTGCGTCGCTACAATGGATTCGATTCCCCTCGGGCCAGAGCCAACAAGATGAGTAGCTCTTCATGGGTGAACGGCTCGCCTTCTGCCGTccc         >  2:841859/1‑149 (MQ=255)
                                                                                                                                            caaaaaaaaGCGACTCAGCAGTCGCCTTAAAAATCAGTTTGCCAGCGCCGCCTTCTGCGTCGCTACAATGGATTCGATTCCCCTCGGGCCAGAGCCAACAAGATGAGTAGCTATTCATTGGCGAACGGCTCGCCTTCTGCCGTCCCCTg      >  2:181604/2‑149 (MQ=255)
                                                                                                                                              aaaaaaAGCGACTCATCAGTCGCCTTAAAAATCAGTTTGCCAGCGCCGCCTTCTGCGTCGCTACAATGGATTCGATTCCCCTCGGGCCAGAGCCAACAAGATGAGTAGCTCTTCATGGGTGAACGGCTCGCCTTCTGCCGTCCCCTGCa    <  2:36814/149‑1 (MQ=255)
                                                                                                                                               aaaaaaGCGACTCATCAGTCGCCTTAAAAATCAGTTTGCCAGCGCCGCCTTCTGCGTCGCTACAATGGATTCGATTCCCCTCGGGCCAGAGCCAACAAGATGAGTAGCTCTTCATGGGTGATCGGCTCGCCCTCTGCCGTCCCCTGCAc   >  1:630204/1‑149 (MQ=255)
                                                                                                                                                aaaaAGCGACTCATCAGTCGCCTTAAAAATCAGTTTGCCAGCGCCGCCTTCTGCGTCGCTACAATAGATTCGATTCCCCTCGGGCCAGAGCCAACAAGATGAGTAACACTTCCTGGGTGACCGTCCCGCCTTCTGCCGCACCCTGCACt  >  2:109009/1‑149 (MQ=255)
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GTTGAAGAAATAGGGGCTTTTGCGCCCGGATTTCAGCGTAAACTCGCCAAACTTTAACACCTGCTTGCTAAGCGCAAATTCAATAAACTGGCGCTGATATGGTTTCATGCCTTCGCTCCTCATCTTACTTTTCTACAGACAAAAAAAAGGCGACTCATCAGTCGCCTTAAAAATCAGTTTGCCAGCGCCGCCTTCTGCGTCGCTACAATGGATTCGATTCCCCTCGGGCCAGAGCCAACAAGATGAGTAGCTCTTCATGGGTGAACGGCTCGCCTTCTGCCGTCCCCTGCACT  >  NC_000913_3_hsa_tpiA/3815661‑3815953

Alignment Legend
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: ‑