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.A84.9% 99.9 / 12.9 33coding (40/1389 nt)narUnitrate/nitrite transporter
Reads supporting (aligned to +/- strand):  ref base . (3/2);  new base A (15/13);  total (18/15)
Fisher's exact test for biased strand distribution p-value = 1.00e+00
Kolmogorov-Smirnov test that lower quality scores support variant p-value = 9.89e-01
*NC_000913_3_hsa_tpiA1,544,0220CA100.0% 114.7 / NA 33L13F (TTG→TTT) narUnitrate/nitrite transporter
Reads supporting (aligned to +/- strand):  ref base C (0/0);  new base A (18/15);  total (18/15)

AGATTAACGGTAACTGCGCTAAATAGCATCCAGACACAGAAGGCAAGAAGTAGACAACTGACTGATATCCAGAGATTTCTTCGAGCAATATGTTTTCCTTTATTTTCCCAGAAGGCCGGATTTTCTGGTTTCCAGTCGC‑G‑C‑AAAAGATAACGACTATTTTTCTCATTTTGCAGTGCCATATTGTTCCTCACATGCACACATTGGTAATGAAAAAAAGACAAAACACGAGGTAAGGCGCAATAGCCAGTTATTAGAATTAAGGATGAATTGGGTGAAGTGCTGATTGAAAG  >  NC_000913_3_hsa_tpiA/1543882‑1544171
                                                                                                                                              |||                                                                                                                                                    
agaTTAACGGTAACTGCGCTAAATAGCATCCAGACACAGAAGGCAAGAAGTAGACAACTGACTGATATCCAGAGATTTCTTCGAGCAATATGTTTTCCTTTATTTTCCCAGAAGGCCGGATTTTTTGGTTTCCAGTCGC‑G‑A‑aaaaagat                                                                                                                                               <  1:716616/149‑5 (MQ=255)
  aTTAACGGTAACTGCGCTAAATAGCATCCAGACACAGAAGGCAAGAAGTAGACAACTGACTGATATCCAGAGATTTCTTCGAGCAATATGTTTTCCTTTATTTTCCCAGAAGGCCGGATTTTCTGGTTTCCAGTCGC‑GAA‑AAAAGATaa                                                                                                                                              >  1:90600/1‑149 (MQ=255)
  aTTAACGGTAACTGCGCTAAATAGCATCCAGACACAGAAGGCAAGAAGTAGACAACTGACTGATATCCAGAGATTTCTTCGAGCAATATGTTTTCCTTTATTTTCCCAGAAGGCCGGATTTTCTGGTTTCCAGTCGC‑GAA‑AAAAGATaa                                                                                                                                              >  2:658383/1‑149 (MQ=255)
   ttAACGGTAACTGCGCTAAATAGCATCCAGACACAGAAGGCAAGAAGTAGACAACTGACTGATATCCAGAGATTTCTTCGAGCAATATGTTTTCCTTTATTTTCCCAGAAGGCCGGATTTTCTGGTTTCCAGTCGC‑GAA‑AAAAGATAAc                                                                                                                                             <  2:20635/149‑1 (MQ=255)
       cGGTAACTGCGCTAAATAGCATCCAGACACAGAAGGCAAGAAGTAGACAACTGACTGATATCCAGAGATTTCTTCGAGCAATATGTTTTCCTTTATTTTCCCAGAAGGCCGGATTTTCTGGTTTCCAGTCGC‑GAA‑AAAAGATAACGACt                                                                                                                                         >  1:507976/1‑149 (MQ=255)
           aaCTGCGCTAAACAGCATCCAGACACAGAATGCAAGACGAAGACAACGGACTGATATCCAGAGATTTCTTCGAGCAATATGTTTTCCTTTATTTTCCCAGAAGGCCGGATTTTCTGGTTTCCAGTCGC‑GAA‑AAAAGATAACGACTAttt                                                                                                                                     <  1:21266/149‑1 (MQ=255)
             atGCGCTAAATAGCATCCAGACACAGAAGGCAAGAAGTAGACAACTGACTGATATCCAGAGATTTCTTCGAGCAATATGTTTTCCTTTATTTTCCCAGAAGGCCGGATTTTCTGGTTTCCACTCGC‑GAA‑AAAAGATAACGACTAttttt                                                                                                                                   <  2:659669/148‑1 (MQ=255)
                          cATCCAGACACAGAAGGCAAGAAGTAGACAACTGACTGATATCCAGAGATTTCTTCGAGCAATATGTTTTCCTTTATTTTCCCAGAAGGCCGGATTTTCTGGTTTCCAGTCGC‑GAA‑AAAAGATAACGACTATTTTTCTCATTTTGCAGt                                                                                                                      <  1:658383/149‑1 (MQ=255)
                                  cacaGAAGGCAAGAAGTAGACAACTGACTGATATCCAGAGATTTCTTCGAGCAATATGTTTTCCTTTATTTTCCCAGAAGGCCGGATTTTCTGGTTTCCAGTCGC‑GAA‑AAAAGATAACGACTATTTTTCTCATTTTGCAGTGCCATAtt                                                                                                              <  1:314555/149‑1 (MQ=255)
                                     aGAAGGCAAGAAGTAGACAACTGACTGATATCCAGAGATTTCTTCGAGCAATATGTATTCCTTTATTTTCCCAGAAGGCCGGATTTTCTGGTTTCCAGTGGC‑GAA‑AAAAGATAACGACTATTTTTCTACTTTTCCAGTGCCATAGTGtt                                                                                                           >  2:128925/1‑149 (MQ=255)
                                       aaGGCAAGAAGTAGACAACTGACTGATATCCAGAGATTTCTTCGAGCAATATGTTTTCCTTTATTTTCACAGAAGGCCGGATTTTCTGGTTTCCAGTCGC‑G‑AAAAAAGATAACGCCTATTTTTCTCATTTTGCAGTGCCATATTGTTct                                                                                                         >  2:646946/1‑148 (MQ=255)
                                           cAAGAAGTAGACAACTGACTGATATCCAGAGATTTCTTCGAGCAATATGTTTTCCTTTATTTTCCCAGAAGGCCGGATTTTCTGGTTTCCAGTCGC‑GAA‑AAAAGATAACGACTATTTTTCTCATTTTGCAGTGCCATATTGTTCCTcac                                                                                                     >  1:804726/1‑149 (MQ=255)
                                            aagaagTAGACAACTGACTGATATCCAGAGATTTCTTCGAGCAATATGTTTTCCTTTATTTTCCCAGAAGGCCGGATTTTCTGGTTTCCAGTCGC‑GAA‑AAAAGATAACGACTATTTTTCTCATTTTGCAGTGCAATATTGTTCCTcaca                                                                                                    >  1:653018/1‑149 (MQ=255)
                                               aagTAGACAACTGACTGATATCCAGAGATTTCTTCGAGCAATATGTTTTCCTTTATTTTCCCAGAAGGCCGGATTTTCTGGTTTCCAGTCGC‑GAA‑AAAAGATAAAGACTATATTTATTTTTTTGCAGTGCCATATTGTTCCTCACATGc                                                                                                 >  1:567370/1‑149 (MQ=255)
                                                agTAGACAACTGACTGATATCCAGAGATTTCTTCGAGCAATATGTTTTCCTTTATTTTCCCAGAAGGCCGGATTTTCTGGTTTCCAGTCGC‑GAA‑AAAAGATAACGACTATTTTTCTCATTTTGCAGTGCCATATTGTTCCTCACATGca                                                                                                >  1:215721/1‑149 (MQ=255)
                                                    gACAACTGACTGATATCCAGAGATTTCTTCGAGCAATATGTTTTCCTTTATTTTCCCAGAAGGCCGGATTTTCTGGTTTCCAGTCGC‑GAA‑AAAAGATaa                                                                                                                                              <  1:166627/99‑1 (MQ=255)
                                                    gACAACTGACTGATATCCAGAGATTTCTTCGAGCAATATGTTTTCCTTTATTTTCCCAGAAGGCCGGATTTTCTGGTTTCCAGTCGC‑GAA‑AAAAGATAACGACTATTTTTCTCATTTTGCAGTGCCATATTGTTCCTCACATCcacaca                                                                                            >  2:103504/1‑149 (MQ=255)
                                                    gACAACTGACTGATATCCAGAGATTTCTTCGAGCAATATGTTTTCCTTTATTTTCCCAGAAGGCCGGATTTTCTGGTTTCCAGTCGC‑G‑AAAAAAGATaa                                                                                                                                              >  2:166627/1‑99 (MQ=255)
                                                       aaCTGACTGATATCCAGAGATTTCTTCGAGCAATATGTTTTCCTTTATTTTCCCAGAAGGCCGGATTTTCTGGTTTCCAGTCGC‑GAA‑AAAAGATAACGACTATTTTTCTCATTTTGCAGTGCCATATTGTTCCTCACATGCACACATTg                                                                                         >  2:193019/1‑149 (MQ=255)
                                                       aaCTGACTGATATCCAGAGATTTCTGCGAGCAATATGTTTTCCTTTATTTTCCCAGAAGGCCGGATTTTCTGGTTTCCAGTCGC‑GAA‑AAAAGATAACGACTATTTTTCTCATTTTGCAGTGCCATATTGTTCCTCACATGCACACATTg                                                                                         <  2:789568/149‑1 (MQ=255)
                                                         ctgactgaTATCCAGAGATTTCTTCGAGCAATATGTTTTCCTTTATTTTCCCAGAAGGCCGGATTTTCTGGTTTCCAGTCGC‑GAA‑AAAAGATAACGACTATTTTTCTCATTTTGCAGTGCCATATTGTTCCTAACATGCACACATTGGt                                                                                       >  2:574171/1‑149 (MQ=255)
                                                           gactgaTATCCAGAGATTTCTTCGAGCAATATGTTTTCCTTTATTTTCCCAGAAGGCCGGATTTTCTGGTTTCCAGTCGC‑GAA‑AAAAGATAACGACTATTTTTCTCATTTTGCAGTGCCATATTGTTCCTCACATGCACACATTGGTaa                                                                                     >  1:301338/1‑149 (MQ=255)
                                                                     cAGAGATTTCTTCGAGCAATATGTTTTCCTTTATTTTCCCAGAAGGCCGGATTTTCTGGTTTCCAGTCGC‑GAA‑AAAAGATAACGACTATTTTTCTCATTTTGCAGTGCCATATTGTTCCTCACATGcaca                                                                                              <  1:605152/130‑1 (MQ=255)
                                                                     cAGAGATTTCTTCGAGCAATATGTTTTCCTTTATTTTCCCAGAAGGCCGGATTTTCTGGTTTCCAGTCGC‑GAA‑AAAAGATAACGACTATTTTTCTCATTTTGCAGTGCCATATTGTTCCTCACATGcaca                                                                                              >  2:605152/1‑130 (MQ=255)
                                                                                              ttCCTTTATATTCCCAGAATGCCTGATTTTCTGGTTTCCAATCGCAA‑A‑AAAAGATAACGACTATTTTTCTCATTTTGCAGTGCCATATTGTTCCTCACATACACACATTGTTAATGAAAAAAAGACAAAACACGAGGTAAGGCGCAATa                                                  <  2:301954/149‑1 (MQ=255)
                                                                                                ccTTTATTTTCCCAGAAGGCCGGATTTTCTGGTTTCCAGTCGC‑GAA‑AAAAGATAACGACTATTTTTCTCATTTTGCAGTGCCATATTGTTCCTCACATGCACACATTGGTAATGAAAAAAAGACAAAACACGAGGTAAGGCGCAATAGc                                                <  1:479574/149‑1 (MQ=255)
                                                                                                  tttATTTTCCCAGAAGGCCGGATTTTCTGGTTTCCAGTCGC‑GAA‑AAAAGATAACGACTATTTTTCTCATTTTGCAGTGCCATATTGTTCCTCACATGCACACATTGGTAATGAAAAAAAGACAAAACACGAGGTAAGGCGCAATAGCCa                                              >  2:302137/1‑149 (MQ=255)
                                                                                                     aTTTTCCCAGAAGGCCGGATTTTCTGGTTTCCAGTCGC‑GAA‑AAAAGATAACGACTATTTTTCTCATTTTGCAGTGCCATATTGTTCCTCACATGCACACATTGGTAAt                                                                                    <  1:784822/108‑1 (MQ=255)
                                                                                                     aTTTTCCCAGAAGGCCGGATTTTCTGGTTTCCAGTCGC‑GAA‑AAAAGATAACGACTATTTTTCTCATTTTGCAGTGCCATATTGTTCCTCACATGCACACATTGGTAAt                                                                                    >  2:784822/1‑108 (MQ=255)
                                                                                                       tttCCCCGAAGGCCGGATTTTCTGGTTTGCAGTCGC‑GAA‑AAAAGATAACGACTATTTTTCTCATTTTGCAGTGCCATATTGTTCCTCACATGCACACATTGGTAATGAAAAAAAGACAAAACACGAGGTAAGGCGCAATAGCCAGttat                                         <  1:484417/149‑1 (MQ=255)
                                                                                                          cccAGAAGGCCGGATTTTCTGGTTTCCAGTCGC‑GAA‑AAAAGATAACGACTATTTTTCTCATTTTGCAGTGCCATATTGTTCCTCACATGCACACATTGGTAATGAAAAAAAGACAAAACACGAGGTAAGGCGCAATAGCCAGTTATTAg                                      <  1:193019/149‑1 (MQ=255)
                                                                                                                         tttCTGGTTTCCAGTCGC‑GAA‑AAAAGATAACGACTATTTTTCTCATTTTGCAGTGCCATATTGTTCCTCACATGCACACATTGGTAATGAAAAAAAGACAAAACACGAGGTAAGGCGCAATAGCCAGTTATTAGAATTAAGGATGAAtt                       <  2:507976/149‑1 (MQ=255)
                                                                                                                            cTGGTTTCCAGTCGC‑G‑AAAAAAGATAACGACTATTTTTCTCATTTTGCAGTACCCTATTGTTCCTCACATGCACACATTGGTAATGAAAAAAAGACAAAACACGAGGAAAGGCGCAATAGCCCGTATTTAGAATTAAGGATGAATTggg                    >  2:184340/1‑149 (MQ=255)
                                                                                                                                          cgcgaaaaaaGATAACGACTATTTTTCTCATTTTGCAGTGCCATATTGTTCCTCACATGCACACATTGGTAATGAAAAAAAGACAAAACACGAGGTAAGGCGCAATAGCCAGTTATTAGAATTAAGGATGAATTGGGTGAAGTGCTGAt        <  1:509724/143‑1 (MQ=255)
                                                                                                                                             gaaaaaaGATAACGACTATTTTTCTCATTTTGCAGTGCCATATTGTTCCTCACATGCACACATTGGTAATGAAAAAAAGACAAAACACGAGGTAAGGCGCAATAGCCAGTTATTAGAATTAAGGATGAATTGGGTGAAGTGCTGATTGa     <  2:462678/146‑1 (MQ=255)
                                                                                                                                               aaaaaGATAACGACTATTTTTCTCATTTTGCAGTGCCATATTGTTCCTCACATGCACACATTGGTAATGAAAAAAAGACAAAACACGAGGTAAGGCGCAATAGCCAGTTATTAGAATTAAGGATGAATTGGGTGAAGTGCTGATTGaaa   <  1:518832/148‑1 (MQ=255)
                                                                                                                                                aaaaGATAACGACTATTTTTCTCATTTTGCAGTGCCATATTGTTCCTCACATGCACACATTGGTAATGAAAAAAAGACAAAACACGAGGTAAGGCGCAATAGCCAGTTATTAGAATTAAGGATGAATTGGGTGAAGTGCTGATTGAAAg  >  1:594923/1‑149 (MQ=255)
                                                                                                                                              |||                                                                                                                                                    
AGATTAACGGTAACTGCGCTAAATAGCATCCAGACACAGAAGGCAAGAAGTAGACAACTGACTGATATCCAGAGATTTCTTCGAGCAATATGTTTTCCTTTATTTTCCCAGAAGGCCGGATTTTCTGGTTTCCAGTCGC‑G‑C‑AAAAGATAACGACTATTTTTCTCATTTTGCAGTGCCATATTGTTCCTCACATGCACACATTGGTAATGAAAAAAAGACAAAACACGAGGTAAGGCGCAATAGCCAGTTATTAGAATTAAGGATGAATTGGGTGAAGTGCTGATTGAAAG  >  NC_000913_3_hsa_tpiA/1543882‑1544171

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: ‑