Predicted mutation
evidence seq id position mutation freq annotation gene description
RA NC_000913_3_hsa_pgi 4,506,107 C→T 9.6% Q265* (CAG→TAG)  yjhC → GFO/IDH/MOCA family putative oxidoreductase. NAD(P)‑dependent

Read alignment evidence...
  seq id position ref new freq score (cons/poly) reads annotation genes product
*NC_000913_3_hsa_pgi4,506,1070CT 9.6% 97.9 / 4.3 42Q265* (CAG→TAG) yjhCGFO/IDH/MOCA family putative oxidoreductase. NAD(P)‑dependent
Reads supporting (aligned to +/- strand):  ref base C (22/16);  new base T (2/2);  total (24/18)
Fisher's exact test for biased strand distribution p-value = 1.00e+00
Kolmogorov-Smirnov test that lower quality scores support variant p-value = 8.84e-02

AGGAAAACTAGCAACCTTAGAGTGGGGGAGTGCATTTAACTGGCCGGAACATTATGTCATCATCAATGGAACTAAAGGCTCTATTAAAATTGATATGCAAGAAACAGCAGGGTCACTTAGGATTGGCGGTCAGACAAAGCATTTTTTGGTCCATGAAACACAAGAAGAAGATGATGATCGTCGGAAAGGCAATATGACCTCAGAAATGGATGGCGCTATAGCATATGGTCATCCAGGAAAAAAAACACCATTATGGCTTGCCAGTTTAATAAGAAAGGA  >  NC_000913_3_hsa_pgi/4505977‑4506255
                                                                                                                                  |                                                                                                                                                    
aGGAAAACTAGCAACCTTAGAGTGGGGGAGTGCATTTAACTGGCCGGAACATTATGTCATCATCAATGGAACTAAAGGCTCTATTAAAATTGATATGCAAGAAACAGCAGGGTCACTTAGGATTGGCGGACAGAAAAAGCATTTTTTgg                                                                                                                                    >  1:497865/1‑149 (MQ=255)
  gAAAACTAGCAACCTTAGAGTGGGGGAGTGCATTTAACTGGCCGGAACATTATGTCATCATCAATGGAACTAAAGGCTCTATTAAAATTGATATGCAAGAAACAGCAGGGTCACTTAGGATTGGCGGTCAGACAAAGCATTTTTTGGTc                                                                                                                                  >  1:916037/1‑149 (MQ=255)
    aaaCTAGCAACCTTAGAGTGGGGGAGTGCATTTAACTGGCTGTAACATGATGTAATCATCAATGTAACTAAAAGCTCTATTAAAATTGATATGCAAAAAACAGCAGGGTCACTTAGGATTGGCGGTCAGACAAAGCATTTTTTGGTCCa                                                                                                                                >  1:253659/1‑149 (MQ=255)
    aaaCTAGCAACCTTAGAGTGGGGGAGTGCATTTAACTGGCCGGAACATTATGTCATCATCAATGGAACTAAAGGCTCTATTAAAATTGATATGCAAGAAACAGCAGGGTCACTTAGGATTGGCGGTCAGACAAAGCATTTTTTGGTCCa                                                                                                                                <  1:886791/149‑1 (MQ=255)
            aaCCTTAGAGTGGGGGAGTGCATTTAACTGGCCAGCACATTATGTCATCATCAATGGAACTAAAGGCTCACTGAAAATTGATATGCAAGAAACAGCATGATCACTTAGACTTGGCAGTCAGAAAAAGCATTTTTATGTCCATGCAacac                                                                                                                        >  2:509171/1‑149 (MQ=255)
               cTTAGAGTGGGGGAGTGCATTTAACAGGCCGGAACATTATGTCATCATCAATGGAACTAAAGGCTCTATAAAAATTGATATGCAAGAAACAGCAAGGTCACTTAGGATTGGCGGTCAGACAAAACACTTTTTGGTCCATGAAACACaag                                                                                                                     >  2:169946/1‑149 (MQ=255)
               cTTAGAGAGGGGGAGGGCATTTAACTGGTCGGAACATTATGTCATCATCAATGGAACTAAAGGCTCTATTAAAATTGATATGCAAGAAACAGCAGGGTCACTTAGGATTGGCGGTCAGACAAAGCATTTTTTGGTCCATGAAACACaag                                                                                                                     <  2:260784/149‑1 (MQ=255)
                  agggggggggAGGGCACTGAGCTGGCCGGAACATTATGTCATCATAAATGGAACTAAAGGCTCTATTAAAATTGATATGCAAGAAACAGCAGGGTCACTTAGGATTGGCGGTCAGACAAAGCAGTTTTTGGTCCATGAAACACaagaag                                                                                                                  <  2:194191/144‑1 (MQ=255)
                   gagTGGGGGAGTGCATTTAACTGGCCGGAACATTATGTCATCATCAATGGAACTAAAGGCTCTATTAAAATTGATATGCAAGAAACAGCAGGGTCACTTAGGATTGGCGGTCAGACAAAGCATTTTTTGGTCCATGAAACACaagaaga                                                                                                                 <  1:1005060/149‑1 (MQ=255)
                    agTGGGGGAGTGCATTTAACTGGGCGGAATATTATGTCATCATCAATGGAACTAAAGGCTATATTAAAATTGATATGCAAGAAACAGCATGGTCACTTAGGATTGGCGGTCAGACAAAGCATTTTTTGGTCCATGAAACACaagaagaa                                                                                                                <  2:479486/149‑1 (MQ=255)
                         gggAGTGCATTTAACTGGCCGGAACATTATGTCATCATCAATGGAACTAAAGGCTCTATTAAAATTGATATGCAAGAAACAGCAGGGTCACTTAGGATTGGCGGTCAGACAAAGCATTTTTTGGTCCATGAAACACAAGAAGAAgagga                                                                                                           >  2:234477/1‑149 (MQ=255)
                             gTGCATTTAACTGGCCGGAACATTATGTCATCATCAATGGAACTAAAGGCTCTATTAAAATTGATATGCAAGAAACAGCAGGGTCACTTAGGATTGGCGGTCa                                                                                                                                                     <  1:367100/103‑1 (MQ=255)
                             gTGCATTTAACTGGCCGGAACATTATGTCATCATCAATGGAACTAAAGGCTCTATTAAAATTGATATGCAAGAAACAGCAGGGTCACTTAGGATTGGCGGTCa                                                                                                                                                     >  2:367100/1‑103 (MQ=255)
                             gTGCATTTAACTGGCCGGAACATTATGTCATCATCAATGGAACTAAAGGCTCTATTAAAATTGATATGCAAGAAACAGCAGGGTCACTTAGGATTGGCGGTCAGACAAAGCATTTTTTGGTCCATGAAACACAAGAAGAAgatgatgat                                                                                                       <  1:634758/149‑1 (MQ=255)
                                    tAACTGGCCGGAACATTATGTCATCATCAATGGAACTAAAGGCTCTATTAAAATTGATATGCAAGAAACAGCAGGGTCACTTAGGATTGGCGGTCAGACAAAGCATTTTTTGGTCCATGAAACACAAGAAGAAGATGATGATCGTCGGa                                                                                                >  2:201269/1‑149 (MQ=255)
                                       atGGCCGCAACTTTATGTCATCATCAATGGAACTAAAGGCTCTATTAAAATTGATATGCAAGAAACAGCAGGGTCACTTAGGATTGGCGGTCAGACAAAGCATTTTTTGGTCCATGAAACACAAGAAGAAGATGATGATCGTCGGAAAg                                                                                             <  2:572610/148‑1 (MQ=255)
                                          gCCGGAACATTATGTCATCATCAATGGAAATAAAGGCTGATTTAAAATTGTTATGCAAGAAACAGCAGGGTCACTTAGGATTGGCGGTCAGACAAAGAATTTTTTGGTCCATGAAACACAAGCAGAAGATGATGGTCGGCTGAAAGGCa                                                                                          >  2:718579/1‑149 (MQ=255)
                                                        tcatcatcaATGGAACTAAAGGCTCTATTAAAATTGATATGCAAGAAACAGCAGGGTCACTTAGGATTGGCGGTCAGACAAAGCATTTTTTGGTCCATGAAACACAAGAAGAAGATGATGATCGTCGGAAAGGCAATATGACCTCAGaa                                                                            >  1:621523/1‑149 (MQ=255)
                                                           tcatcaATGGAACTAAAGGCTCTATTAAAATTGATATGCAAGAAACAGCAGGGTCACTTAGGATTGGCGGTCAGACAAAGCATTTTTTGGTCCATGAAACACAAGAAGAAGATGATGATCGTCGGAAAGGCAATATGACCTCAGAAatg                                                                         >  1:94487/1‑149 (MQ=255)
                                                             atcaATGGAACTAAAGGCTCTATTAAAATTGATATGCAAGAAACAGCAGGGTCACTTAGGATTGGCGGTTAGACAAAGCATTTTTTGGTCCATGAAACACAAGAAGAAGATGATGAtcgt                                                                                                    <  1:148130/120‑1 (MQ=255)
                                                             atcaATGGAACTAAAGGCTCTATTAAAATTGATATGCAAGAAACAGCAGGGTCACTTAGGATTGGCGGTTAGACAAAGCATTTTTTGGTCCATGAAACACAAGAAGAAGATGATGAtcgt                                                                                                    >  2:148236/1‑120 (MQ=255)
                                                             atcaATGGAACTAAAGGCTCTATTAAAATTGATATGCAAGAAACAGCAGGGTCACTTAGGATTGGCGGTTAGACAAAGCATTTTTTGGTCCATGAAACACAAGAAGAAGATGATGAtcgt                                                                                                    >  2:148130/1‑120 (MQ=255)
                                                             atcaATGGAACTAAAGGCTCTATTAAAATTGATATGCAAGAAACAGCAGGGTCACTTAGGATTGGCGGTTAGACAAAGCATTTTTTGGTCCATGAAACACAAGAAGAAGATGATGAtcgt                                                                                                    <  1:148236/120‑1 (MQ=255)
                                                             aggaaTTGAACTAAAGGCTCTATTAAAATTGATATGCAAGAAACAGCAGGCTCACCTAGGATTGGCGGTCAGACAAAGCATTTTTTGGTCCATGAAACACCAGAAGAAGATGATGAACGTCGGAAAGGCTATATGACCTCAAAAatggg                                                                       >  2:176014/4‑148 (MQ=255)
                                                             aacaATGGAAGTAAAGGCTCTAATACAGTTGATATGCAAGGAACAGCAGGGTCACTTAGGCTTGGCGGTCAGACAAATCATTTTTTGGTCCATGAAACACAAGAAGAAGATGAGGATCGTCGGAAAGGCAATATGACCTCAGAAatgga                                                                       <  1:435541/147‑1 (MQ=255)
                                                                aaTGGAACTAAAGGCTCTATTAAAATTGATATGCAAGAAACAGCAGGGTCACTTAGGATTGGCGGTCAGACAAAGCATTTTTTGGTCCATGAAac                                                                                                                          >  2:18640/1‑95 (MQ=255)
                                                                aaTGGAACTAAAGGCTCTATTAAAATTGATATGCAAGAAACAGCAGGGTCACTTAGGATTGGCGGTCAGACAAAGCATTTTTTGGTCCATGAAac                                                                                                                          <  1:18640/95‑1 (MQ=255)
                                                                 ctGGAAGTAGAAGCTCTATTAAAATTGATATGCAAAAAACAGCAGGGTCACTTAGGATTGGCGGTCAGAGAAAGCATTTTTTGATCCATGAAACACAAGAAAAAGATGATGATAGTCGGAAAGGCAATATGAGCTCTGAAATGGATTgc                                                                   >  2:513462/2‑149 (MQ=255)
                                                                 aTGGAACTAAAGGCTCTATTAAAATTGATATGCAAGAAACAGCAGGGTCACTTAGGATTGGCGGTCAGACAAAGCATTTTTTGGTCCATGAAACACAAGAAGAAGATGATGATCGTCGGAAAGGCAATATGACCTCAAAAatggatgtc                                                                   >  2:475749/1‑147 (MQ=255)
                                                                        tAAAGGCTCTATTAAAATTGATATGCAAGAAACAGCAGGGTCACTTAGGATTGGCGGTCAGACAAAGCATTTTTTGGTCCATGAAACACaa                                                                                                                      >  2:249719/1‑91 (MQ=255)
                                                                        tAAAGGCTCTATTAAAATTGATATGCAAGAAACAGCAGGGTCACTTAGGATTGGCGGTCAGACAAAGCATTTTTTGGTCCATGAAACACaa                                                                                                                      <  1:249719/91‑1 (MQ=255)
                                                                                  aTTAAAATTGATATGCAAGAAACAGCAGGGTCACTTAGGATTGGCGGTCAGACAAAGCATTTTTTGGTCCATGAAACACAAGAAGAAGATGATGATCGTCGGAAAGGCAATATGACCTCAGAAATGGATGGCGCTATAGCATATGGTCa                                                  >  1:83645/1‑149 (MQ=255)
                                                                                  aTTAAAATTGATATGCAAGAAACAGCAGGGTCACTTAGGATTGGCGGTCAGACAAAGCATTTTTTGGTCCATGAAACACAAGAAGAAGATGATGATCGTCGGAAAGGCAATATGAAATCAGAAATGGATGGCGCTATAGCATATGGTCa                                                  >  1:786693/1‑149 (MQ=255)
                                                                                    tAAAATTGATATGCAAGAAACAGCAGGGTCACTTAGGATTGGCGGTCAGACAAAGCATTTTTTGGTCCATGAAACACAAGAAGAAGATGATGATCGTCGGAAAGGCAATATGACCTCAGAAATGGATGGCGCTATAGCATATGGTCATc                                                <  2:725617/149‑1 (MQ=255)
                                                                                                gCAAGAAACAGCAGGGTCACTTAGGATTGGCGTTCAGATAAAGCATTTTTTGGTCCATGAAACACAAGAAGAAGATGATGATCGTCGGAAAGGCAATATGACCTCAGAAATGGATGGCGCTATAGCATATGGTCATCCAGGaaaaaaaa                                    <  1:149779/149‑1 (MQ=255)
                                                                                                gCAAGAAACAGCAGGGTCACTTAGGATTGGCGGTCAGACAAAGCATTTTTTGTTTTATTAACCACACGAAGAACCTGATAGACGTAGGACAGTCAATATGACGTCAAAATTCTATGGCGCCATAGCATATGATCATCCGGCaacaaacc                                    >  2:870129/1‑147 (MQ=255)
                                                                                                 aaaGAAACAGCAGGGTCACTTAGGATTGGCGGTCAGATAAAGCATTTTTTGGTCCATGAAACACAAGAAGAAGATGATGATCGTCGGGAAGGCAATATGACCTCAGAAATGGATGGCGCTATAGCATATGGTCATCCAGGAAAAAAAac                                   <  2:875794/148‑1 (MQ=255)
                                                                                                  aaGAAACAGCAGGGTCACTTAGGATTGGCGGTCAGACAAAGCATCTTGTGGTGCTGGAAGCAGGAGAAGAAGATGATGATCGTCGGAAAGGCAATATGACCTCAGAAATGGATGGCGCTATAGCATATGATCATCCAGGAAAAAAAaca                                  >  2:669311/1‑149 (MQ=255)
                                                                                                         agcagGGTCACTTAGGATTGGCGGTCAGACAAAGCATTTTTTGGTCCATGAAACACAAGAAGAAGATGATGATCGTCGGAAAGGCAATATGACCTCAGAAATGGATGGCGCTATAGCATATGGTCATCCAGGAAAAAAAACACCATTAt                           >  1:53833/1‑149 (MQ=255)
                                                                                                              ggTCACTTAGGATTGGCGGTCAGACAAAGCATTTTTTGGTCCATGAAACACAAGAAGAAGATGATGATCGTCGGAAAGGCAATATGACCTCAGAAATGGATGGCGCtata                                                             <  1:206672/110‑1 (MQ=255)
                                                                                                              ggTCACTTAGGATTGGCGGTCAGACAAAGCATTTTTTGGTCCATGAAACACAAGAAGAAGATGATGATCGTCGGAAAGGCAATATGACCTCAGAAATGGATGGCGCtata                                                             >  2:206672/1‑110 (MQ=255)
                                                                                                              ggTCACTTAGGATTGGCGGTCAGACAAAGCATTTTTTGGTCCATGAAACACAAGAAGAAGATGATGATCGTCGGAAAGGCAATATGACCTCAGAAATGGATGGCGCTATAGCATATGGTCATCCAGGAAAAAAAACACCATTATGGCtt                      <  2:94487/149‑1 (MQ=255)
                                                                                                                                  cAGACAAAGCATTTTTTGGTCCATGAAACACAAGAAGAAGATGATGATCGTCGGAAAGGCAATATGACCTCAGAAATGGATGGCGCTATAGCATATGGTCATCCAGGAAAAAAAACACCATTATGGCTTGCCAGTTTAATAAGAAAGga  <  1:234477/149‑1 (MQ=255)
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AGGAAAACTAGCAACCTTAGAGTGGGGGAGTGCATTTAACTGGCCGGAACATTATGTCATCATCAATGGAACTAAAGGCTCTATTAAAATTGATATGCAAGAAACAGCAGGGTCACTTAGGATTGGCGGTCAGACAAAGCATTTTTTGGTCCATGAAACACAAGAAGAAGATGATGATCGTCGGAAAGGCAATATGACCTCAGAAATGGATGGCGCTATAGCATATGGTCATCCAGGAAAAAAAACACCATTATGGCTTGCCAGTTTAATAAGAAAGGA  >  NC_000913_3_hsa_pgi/4505977‑4506255

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: ‑