Predicted mutation
evidence seq id position mutation annotation gene description
RA NC_000913_3_hsa_tpiA 1,544,022 1 bp→AA coding (39/1389 nt) narU ← nitrate/nitrite transporter

Read alignment evidence...
  seq id position ref new freq score (cons/poly) reads annotation genes product
*NC_000913_3_hsa_tpiA1,544,0211.A90.9% 93.4 / 4.3 33coding (40/1389 nt)narUnitrate/nitrite transporter
Reads supporting (aligned to +/- strand):  ref base . (3/0);  new base A (16/14);  total (19/14)
Fisher's exact test for biased strand distribution p-value = 2.44e-01
Kolmogorov-Smirnov test that lower quality scores support variant p-value = 8.04e-01
*NC_000913_3_hsa_tpiA1,544,0220CA100.0% 98.3 / NA 33L13F (TTG→TTT) narUnitrate/nitrite transporter
Reads supporting (aligned to +/- strand):  ref base C (0/0);  new base A (19/14);  total (19/14)

ATCCAGACACAGAAGGCAAGAAGTAGACAACTGACTGATATCCAGAGATTTCTTCGAGCAATATGTTTTCCTTTATTTTCCCAGAAGGCCGGATTTTCTGGTTTCCAGTCGCG‑C‑AAAAGATAACGACTATTTTTCTCATTTTGCAGTGCCATATTGTTCCTCACATGCACACATTGGTAATGAAAAAAAGACAAAACACGAGGTAAGGCGCAATAGCCAGTTATTAGAATTAAGGATGAATTGGGTGAAGTG  >  NC_000913_3_hsa_tpiA/1543909‑1544160
                                                                                                                  |||                                                                                                                                         
aTCCAGACACAGAAGGCAAGAAGTAGACAACTGACTGATATCCAGAGAGTTCTTCGAGCAATAGGTTTTCCTTTATTTTCCCAGAAGGCCGGATTTTCTGGTTTCCAGTCGCGAA‑AAAAGATAACGACTATTTTTCTCATTTTGCAGTg                                                                                                          >  1:597899/1‑149 (MQ=255)
 tCCAGACACAGAAGGTAAGAACTAGACAACTGACTGATATCCAGAGATTTCTTCGAGCAATATGTTTTCCTTTATTTTCCCAGAAGGCCGGATTTTCTGGTTTCCAGTCGCGAA‑AAAAGATAACGACTATTTTTCTCATTTTGCAGTGc                                                                                                         <  1:464904/149‑1 (MQ=255)
 tCCAGACACAGAAGGCAAGAAGTAGACAACTGACTGATATCCAGAGATTTCTTCGAGCAATATGTTTTCCTTTATTTTCCCAGAAGGCCGGATTTTCTGGTTTCCAGTCGCGAA‑AAAAGATAACGACTATTTTTCTCATTTTGCAGTGc                                                                                                         >  2:379465/1‑149 (MQ=255)
          aGAAGGCAAGAAGTAGACAACTGACTGATATCCAGAGATTTCTTCGAGCAATATGTTTTCCTTTATTTTCCCAGAAGGCCGGATTTTCTGGTTTCCAGTCGCGAA‑AAAAGATAACGACTATTTTTCTCATTTTGCAGTGCCATATTGtt                                                                                                >  2:536298/1‑149 (MQ=255)
          aGAAGGCAAGAAGTAGACAACTGACTGATATCCAGAGATTTCTTCGAGCAATATGTTTTCCTTTATTTTCCCAGAAGGCCGGATTTTCTGGTTTCCAGTCGCGAA‑AAAAGATAACGACTATTTTTCTCATTTTGCAGTGCCATATTGtt                                                                                                <  1:451811/149‑1 (MQ=255)
           gAAGGCAAGAAGTAGACAACTGACTGATATCCAGAGATTTCTTCGAGCAATATGTTTTCCTTTATTTTCCCAGAAGGCCGGATTTTCTGGTTTCCAGTCGCGAA‑AAAAGATAACGACTATTTTTCTCATTTTGCAGTGCCATATTGTTc                                                                                               <  2:77344/149‑1 (MQ=255)
                  agaagTAGACAGTTGACTGATATCCAAATGATGCTTCGAGCATTATGTTTTCCGTTATTTTCCCAGAAGGCCGGATTTTCTGGTTTCCAGTCGCGAA‑AAAAGATAACGACTATTTTTCTCATTTTGCAGTGCCATATTGTTCCTCACAt                                                                                        <  2:109348/149‑1 (MQ=255)
                            aaCTGACTGATATCCAGAGATTTCTTCGAGCAATATGTTTTCCTTTATTTTCCCAGAAGGCCGGATTTTCTGGTTTCCAGTCGCGAA‑AAAAGATAACGACTATTTTTCTCATTTTGCAGTGCCATATTGTTCCTCACATGCACACATTg                                                                              <  1:232014/149‑1 (MQ=255)
                            aaCTGACTGATATCCAGAGATTTCTTCGAGCAATATGTTTTCCTTTATTTTCCCAGAAGGCCGGATTTTCTGGTTTCCAGTCGCGAA‑AAAAGATAACGACTATTTTTCTCATTTTGCAGTGCCATATTGTTCCTCACATGCACACATTg                                                                              <  1:536298/149‑1 (MQ=255)
                            aaCTGACTGATATCCAGAGATTTCTTCGAGCAATATGTGTTCCTTTATTTTCCCAGAAGGCCGGATTTTCTGGTTTCCAGTCGCGAA‑AAAAGATAACGa                                                                                                                                <  1:80384/99‑1 (MQ=255)
                            aaCTGACTGATATCCAGAGATTTCTTCGAGCAATATGGGTTCCTGTATTTTCCCAGAAGGCCGGATTTTCTGGTTTCCAGTCGCGAA‑AAAAGATAACGa                                                                                                                                >  2:80384/1‑99 (MQ=255)
                               tgactgaTATCCAGAGATTTCTTCGAGCAATATGTTTTCCTTTATTTTCCCAGAAGGCCGGATTTTCTGGTTTCCAGTCGCGAA‑AAAAGATAACGACTATTTTTCTCATTTTGCAGTGCCATATTGTTCCTCACATGCACACATTGGTa                                                                           >  1:51092/1‑149 (MQ=255)
                                 actgaTATCCAGAGATTTCTTCGAGCAATATGTTTTCCTTTATTTTCCCAGAAGGCCGGATTTTCTGGTTTCCAGTCGCGAA‑AAAAGATAACGACTATTTTTCTCATTTTGCAGTGCCATATTGTTCCTCACATGCACACATTGGTAAt                                                                         <  1:489869/149‑1 (MQ=255)
                                   tgaTATCCAGAGATTTCTTCGAGCAATATGTTTTCCTTTATTTTCCCAGAAGGCCGGATTTTCTGGTTTCCAGTCGCGAA‑AAAAGATAACGACTATTTTTCTCATTTTGCAGTGCCATATTGTTCCTCACATGCACACATTGGTAATGa                                                                       >  1:535818/1‑149 (MQ=255)
                                   tgaTATCCAGAGATTTCTTCGAGCAATATGTTTTCCTTTATTTTCCCAGAAGGCCGGATTTTCTGGTTTCCAGTCGCGAA‑AAAAGATAACGACTATTTTTCTCATTTTGCAGTGCCATATTGTTCCTAACATACAACCATTAGTAATGa                                                                       >  2:194035/1‑149 (MQ=255)
                                     atatCCAGAGATTTCTTCGAGCAATATGTTTTCCTTTATTTTCCCAGAAGGCCGGATTTTCTGGTTTCCAGTCGCGAA‑AAAAGATAACGACTATTTTTCTCATTTTGCAGTGCCATATTGTTCTTCACATGCACACATTGGTAATGaaa                                                                     >  2:638753/1‑149 (MQ=255)
                                         ccAGAGGTTTCTTTGAGTAATATGTTTTCCTTTATTTTCCCAGAAGGCCGGATTTTCTGGTTTCCAGTCGCGAA‑AAAAGATAACGACTATTTTTCTCATTTTGCAGTGCCATATTGTTCCTCACATGCACACATTGGTAATGaaaaaaa                                                                 <  2:305072/149‑1 (MQ=255)
                                         ccAGAGATTTCTTCGAGCAATATGTTTTCCTTTATTTTCCCAGAAGGCCGGATTTTCTGGATTCCAGTCGCGAA‑AAAAGATAACGACTATTTTTCTCATTTTGCAGTGCCATATTGTTCCTCACATGCACACATTGGTAATGaaaaaaa                                                                 >  1:399701/1‑149 (MQ=255)
                                            gagaTTTCTTCGAGCAATATGTTTTCCTTTATTTTCCCAGAAGGCCGGATTTTCTGGTTTCCAGTGGCGAA‑AAAAGATAACGACTATTTTTCTCATTTTGCAGTGCCATTTTGTTCCTCAATTGCACACATTGGTATTGTAAAAAAGaa                                                              >  2:299296/1‑148 (MQ=255)
                                                    ttcGAGCAATATGTTTTCCTTTATTTTCCCAGAAGGCCGGATTTTCTGGTTTCCAGTCGCG‑AAAAAAGCTAACGACTATTTTTCTCATTTTGCAGTGCCATATTGTTCCTCACCTGCACACATTTGTTATGCAACAAAGACAAAacagc                                                      >  2:640216/1‑147 (MQ=255)
                                                             tatGTTTACCTTACATGTCCCAGAAGGCCGGATTTTCTGGTTGCCAGTCGCGAA‑AAAAGATAACGACTATTTTCCTAACTTTGCAGTGCCACATTGTTCCTCACATGCACACATTGGTAATGAAAAAAAAACAAAACACGAGGTAAGgc                                             <  2:207776/149‑1 (MQ=255)
                                                             catcttttCCTTTATTTGCCCAGAGTGCCGGATTTTCTGGTTTCCAGTCGCGAA‑AAAAGATAACGACTATTTTTCTCATTTTGCAGTGCCATATTGTTCCTCACATGCACACATTGGTAATGAAAAAAAGACAAAACACGAGGTAAGgc                                             <  1:106881/145‑1 (MQ=255)
                                                                    tCCTTTATTTTCCCAGAAGGCCGGATTTTCTGGTTTCCAGTCGCGAA‑AAAAGATAACGACTATTTTTCTCATTTTGCAGTGCCATATTGTTCCTCACATGAACACATTGGTAATGAAAAAAAGACAAAACACGAGGTAAGGCGCAATAg                                      >  1:260543/1‑149 (MQ=255)
                                                                       ttaatgttCCCAGAAGGCCGGATTTTCTGGTTTCCAGTCGCGAA‑AAAAGATAACGACTATTTTTCTCATTTTGCAGTGCCATATTGTTCCTCACATGCACACATTGGTAATGAAAAAAAGACAAAACACGAGGTAAGCCGCAATACCCa                                   >  2:592857/7‑149 (MQ=255)
                                                                           ttttCCCAGAAGGCCGGATTTTCTGGTTTCCAGTCGCGAA‑AAAAGATAACGACTATTTTTCTCATTTTGCAGTGCCATATTGTTCCTCACATGCACACATTGGTAATGAAAAAAAGACAAAACACGAGGTAAGGCGCAATAGCCAGtta                               >  1:93189/1‑149 (MQ=255)
                                                                                ccAGAAGGCCGGAATTTCTGGTTCCCAGTCGCG‑AAAAAAGATAACGACCATTTTTCTCATTTTGCAGTCCCATATTGTTACTCACATGCACACATTGGTAATGAAAAAAAGACAAAAAACGAGGTAACGCACAGTAGCACGTTATTAGa                          >  2:323324/1‑149 (MQ=255)
                                                                                   gAAGGCCGGATTTTCTGGTTTCCAGTCGCG‑AAAAAAGATAACGACTATTTTTCTCATTTTGCAGTGCCATATTGTTCCTCACATGCACACATTGGTAATGAAACAAATACAAAACACGAGGTAAGGCGCAATAGCCAGTTATTAGAAtt                       >  1:297867/1‑149 (MQ=255)
                                                                                    aaGGCCGGATTTTCTGGTTTCCAGTCGCGAA‑AAAAGATAACGACTATTTTTCTCATTTTGCAGTGCCATATTGTTCCTCACATGCACACATTGGTAATGAAAAAAAGACAAAACACGAGGTAAGGCGCAATAGCCAGTTATTAGa                          >  2:571565/1‑145 (MQ=255)
                                                                                    aaGGCCGGATTTTCTGATTTCCAGTCGCGAA‑AAAAGATAACGACTATTTTTCTCATTTTGCAGTGCCATATTGTTCCTCACATGCACACATTGGTAATGAAAAAAAGACAAAACACGAGGTAAGGCGCAATAGCCAGTTATTAGa                          <  1:571565/145‑1 (MQ=255)
                                                                                        ccGGATTTTCTGGTTTCCAGTCGCGAA‑AAAAGATAACGACTATTTTTCTCATTTTGCAGTGCCATATTGTTCATCACATGCACACATTGGTAATGAAAAAAAGACAAAACACGAGGTAAGGCGCAATAGCCAGTTATTAGAATTAAGGa                  >  2:373406/1‑149 (MQ=255)
                                                                                         cGGATTTTCTGGTTTCCAGTCGCGAA‑AAAAGATAACGACTATTTTTCTCATTTTGCAGTGCCATATTGTTCCTCACATGCACACATTGGTAATGAAAAAAAGACAAAACACGAGGTAAGGCGCAATAGCCAGTTATTAGAATTAAGGAt                 >  2:424234/1‑149 (MQ=255)
                                                                                                 cTGGCTTCCAGTCGCGAA‑AAAAAATAACGACTATTTTTCTCATTTTGCAGTGCCATATTGTTCCTCACATGCACACATTGGTAATGAAAAAAAGACAAAACACGAGGTAAGGCGCAATAGCCAGTTATTAGAATTAAGGATGAATTggg         <  1:299296/149‑1 (MQ=255)
                                                                                                        ccAGTCGCGAA‑AAAAGATAACGACTATTTTTCTCATTTTGCAGTGCCATATTGTTCCTCACATGCACACATTGGTAATGAAAAAAAGACAAAACACGAGGTAAGGCGCAATAGCCAGTTATTAGAATTAAGGATGAATTGGGTGAAGTg  <  1:424234/149‑1 (MQ=255)
                                                                                                                  |||                                                                                                                                         
ATCCAGACACAGAAGGCAAGAAGTAGACAACTGACTGATATCCAGAGATTTCTTCGAGCAATATGTTTTCCTTTATTTTCCCAGAAGGCCGGATTTTCTGGTTTCCAGTCGCG‑C‑AAAAGATAACGACTATTTTTCTCATTTTGCAGTGCCATATTGTTCCTCACATGCACACATTGGTAATGAAAAAAAGACAAAACACGAGGTAAGGCGCAATAGCCAGTTATTAGAATTAAGGATGAATTGGGTGAAGTG  >  NC_000913_3_hsa_tpiA/1543909‑1544160

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: ‑