Predicted mutation
evidence seq id position mutation freq annotation gene description
RA Exported 327,386 C→T 79.6% S288F (TCC→TTC)  hemH → ferrochelatase

Read alignment evidence...
  seq id position ref new freq score (cons/poly) reads annotation genes product
*Exported327,3860CT79.6% 82.5 / 16.8 44S288F (TCC→TTC) hemHferrochelatase
Reads supporting (aligned to +/- strand):  ref base C (3/6);  new base T (16/19);  total (19/25)
Fisher's exact test for biased strand distribution p-value = 7.10e-01
Kolmogorov-Smirnov test that lower quality scores support variant p-value = 9.88e-01

ATGTGCCCGGGCTTTGCTGCGGATTGTCTGGAGACGCTGGAAGAGATTGCCGAGCAAAACCGTGAGGTCTCCCTCGGTGCCGGCGGGAAAAAATATGAATATATTCCGGCGCTTAATGCCACGCCGGAACA  >  Exported/327316‑327446
                                                                      |                                                            
aTGTGCCCGGGCTTTGCTGCGGATTGTCTGGAGACGCTGGAAGAGATTGCCGAGCAAAACCGTGAGGtctc                                                              >  1:5462294/1‑71 (MQ=255)
  gtgCCCGGGCTTTGCTGCGGATTGTCTGGAGACGCTGGAAGAGATTGCCGAGCAAAACCGTGAGGTCTtcc                                                            >  1:528303/1‑71 (MQ=255)
   tgCCCGGGCTTTGCTGCGGATTGTCTGGAGACGCTGGAAGAGATTGCCGAGCAAAACCGTGAGGTCTtcc                                                            <  1:2532612/70‑1 (MQ=255)
     cccGGGCTTTGCTGCGGATTGTCTGGAGACTCTGGAAGAGATTGCCGAGCAAAACCGTGAGGTCTTCCTc                                                          <  1:2423086/70‑1 (MQ=255)
     cccGGGCTTTGCTGCGGATTGTCTGGAGACGCTGGAAGAGATTGCCGAGCAAAACCGTGAGGTCTTCCTc                                                          <  1:4409257/70‑1 (MQ=255)
     cccGGGCTTTGCTGCGGATTGTCTGGAGACGCTGGAAGAGATTGCCGAGCAAAACCGTGAGGTCTCCCTCg                                                         <  1:2382427/71‑1 (MQ=255)
       cGGGCTTTGCTGCGGATTGTCTGGAGACGCTGGAAGAGATTGCCGAGCAAAACCGTGAGGTCTTCCTCGGt                                                       <  1:3520252/71‑1 (MQ=255)
        gggCTTTGCTGCGGATTGTCTGGAGACGCTGGAAGAGATTGCCGAGCAAAACCGTGAGGTCTTCCTCGGTg                                                      >  1:4825803/1‑71 (MQ=255)
        gggCTTTGCTGCGGATTGTCTGGAGACGCTGGAAGAGATTGCCGAGCAAAACCGTGAGGTCTTCCTCGGTg                                                      >  1:4147269/1‑71 (MQ=255)
         ggCTTTGCTGCGGATTGTCTGGAGACGCTGGAAGAGATTGCCGAGCAAAACCGTGAGGTCTTCCTCGGTGc                                                     >  1:5683682/1‑71 (MQ=255)
           cTTTGCTGCGGATTGTCTGGAGACGCTGGAAGAGATTGCCGAGCAAAACCGTGAGGTCTTCCTCGTTGCcg                                                   >  1:4257975/1‑71 (MQ=255)
           cTTTGCTGCGGATTGTCTGGAGACGCTGGAAGAGATTGCCGAGCAAAACCGTGAGGTCTTCCTCGGTGCcg                                                   >  1:3384408/1‑71 (MQ=255)
           cTTTGCTGCGGATTGTCAGGAGACGCTGGAAGAGATTGCCGAGCAAAACCGTGAGGTCTTCCTCGGTGCcg                                                   >  1:3575547/1‑71 (MQ=255)
               gctgcGGATTGTCTGGAGACGCTGGAAGAGATTGCCGAGCAAAACCGTGAGGTCTtcc                                                            <  1:4003843/58‑1 (MQ=255)
               gctgcGGATTGTCTGGAGACGCTGGAAGAGATTGCCGAGCAAAACCGTGAGGTCTCCCTCGGTGCcggc                                                 <  1:2545852/69‑1 (MQ=255)
                   cGGATTGTCTGGAGACGCTGGAAGAGATTGCCGAGCAAAACCGTGAGGTCTTCCTCGGTGCCGGCGGGaa                                            >  1:4227050/1‑70 (MQ=255)
                    ggATTGTCTGGAGACGCTGGAAGAGATTGCCGAGCAAAACCGTGAGGTCTTCCTCGGTGCCGGCGGGaaaa                                          <  1:4589376/71‑1 (MQ=255)
                      aTTGTCTGGAGACGCTGGAAGAGATTGCCGAGCAAAACCGTGAGGTCTTCCTCGGTGCCGGCGGGaaaaaa                                        <  1:5679351/71‑1 (MQ=255)
                      aTTGTCTGGAGACGCTGGAAGAGATTGCCGAGCAAAACCGTGAGGTCTTCCTCGGTGCCGGCGGGaaaaaa                                        <  1:5351496/71‑1 (MQ=255)
                      aTTGTCTGGAGACGCTGGAAGAGATTGCCGAGCAAAACCGTGAGGTCTTCCTCGGTGCCGGCGGGaaaaaa                                        <  1:2653669/71‑1 (MQ=255)
                        tGTCTGGAGACGCTGGAAGAGATTGCCGAGCAAAACCGTGAGGTCTCCCTCGGTGCCGGCGGGAAAAAata                                      >  1:5513818/1‑71 (MQ=255)
                         gTCTGGAGACGCTGGAAGAGATTGCCGAGCAAAACCGTGAGGTCTTCCTCgg                                                        >  1:5644045/1‑52 (MQ=255)
                         gTCTGGAGACGCTGGAAGAGATTGCCGAGCAAAACCGTGAGGTCTTCCTCgg                                                        >  1:3656980/1‑52 (MQ=255)
                          tCTGGAGACGCTGGAAGAGATTGCCGAGCAAAACCGTGAGGTCTTCCTCGGTGCCGGCGGGaaaa                                          <  1:4862967/65‑1 (MQ=255)
                          tCTGGAGACGCTGGAAGAGATTGCCGAGCAAAACCGTGAGGTCTTCCTCGGTGCCGGCGGGaaaa                                          <  1:4107293/65‑1 (MQ=255)
                          tCTGGAGACGCTGGAAGAGATTGCCGAGCAAAACCGTGAGGTCTTCCTCGGTGCCGGCGGGAAAAAATATg                                    <  1:3866350/71‑1 (MQ=255)
                              gtgaCGCTGGAAGAGATTGCCGAGCAAAACCGTGAGGTCTTCCTCGGTGCCGGCGGGAAAAAATATGAata                                <  1:1136603/69‑1 (MQ=255)
                              gagaCGCTGGAAGAGATTGCCGAGCAAAACCGTGAGGTCTTCCTCGGTGCCGGCGGGAAAAAATATGAata                                <  1:4522512/71‑1 (MQ=255)
                              gagaCGCTGGAAGAGATTGCCGAGCAAAACCGTGAGGTCTTCCTCGGTGCCGGCGGGAAAAAATATGAata                                <  1:5629541/71‑1 (MQ=255)
                               agaCGCTGGAAGAGATTGCCGAGCAAAACCGTGAGGTCTTCCTCGGTGCCGGCGGGAAAAAATATGAata                                >  1:2099505/1‑70 (MQ=255)
                                   gCTGGAAGAGATTGCCGAGCAAAACCGTGAGGTCTTCCTCGGTGCCGGCGGGaaaaaa                                        <  1:4172247/58‑1 (MQ=255)
                                   gCTGGAAGAGATTGCCGAGCAAAACCGTGAGGTCTTCCTCGGTGCCGGCGGGaaaaaa                                        <  1:415940/58‑1 (MQ=255)
                                   gCTGGAAGAGATTGCCGAGCAAAACCGTGAGGTCTTCCTCGGTGCCGGCGGGAAAAAATATGaa                                  >  1:3753518/1‑64 (MQ=255)
                                         agagATTGCCGAGCAAAACCGTGAGGTCTTCCTCGGTGCCGGCGGGAAAAAATATGAATATATTCCGgcgc                     >  1:2749230/1‑71 (MQ=255)
                                                gCCGAGCAAAACCGTGAGGTCTTCCTCGGTGCCGGCGGGAAAAAATATGAatata                              >  1:5017076/1‑55 (MQ=255)
                                                  cGAGCAAAACCGTGAGGTCTCCCTCGGTGCCGGCGGGAAAAAATATGAatata                              <  1:3800887/53‑1 (MQ=255)
                                                  cGAGCAAAACCGTGAGGTCTCCCTCGGTGCCGGCGGGAAAAAATATGAatata                              <  1:4206465/53‑1 (MQ=255)
                                                     gCAAAACCGTGAGGTCTTCCTCGGTGCCGGCGGGAAAAAATATGAATATATTCCGGCGCTTAATGCCACg          >  1:2931168/1‑70 (MQ=255)
                                                        aaaCCGTGAGGTCTTCCTCGGTGCCGGCGGGAAAAAATATGAATATATTCCGGCGCTTAATGCCACGCCgg      <  1:5658351/71‑1 (MQ=255)
                                                         aaCCGTGAGGTCTTCCTCGGTGCCGGCGGGAAAAAATATGAat                                 <  1:2176468/43‑1 (MQ=255)
                                                         aaCCGTGAGGTCTTCCTCGGTGCCGGCGGGAAAAAATATGAat                                 <  1:2407127/43‑1 (MQ=255)
                                                         aaCCGTGAGGTCTCCCTCGGTGCCGGCGGGAAAAAATATGAATATATTCCGGCGCTTAATGCCACGCCGGa     <  1:5137334/71‑1 (MQ=255)
                                                          aCCGTGAGGTCTTCCTCGGTGCCGGCGGGAAAAAATATGAATATATTCCGGCGCTTAATGCCACGcc        >  1:5411836/1‑67 (MQ=255)
                                                          aCCGTGAGGTCTTCCTCGGTGCCGGCGGGAAAAAATATGAATATATTCCGGCGCTTAATGCCACGCCGGaa    >  1:4138786/1‑71 (MQ=255)
                                                          aCCGTGAGGTCTCCCTCGGTGCCGGCGGGAAAAAATATGAATATATTCCGGCGCTTAATGc              >  1:4097089/1‑61 (MQ=255)
                                                          aCCGTGAGGTCTCCCTCGGTGCCGGCGGGAAAAAATATGAATATATTCCGGCGCTTAATGc              >  1:1788376/1‑61 (MQ=255)
                                                            cGTGAGGTCTCCCTCGGTGCCGGCGGGAAAAAATATGAATATATTCCGGCGCTTAATGCCACGCCGGAACa  <  1:527292/71‑1 (MQ=255)
                                                                  gTCTTCCTCGGTGCCGGCGGGAAAAAATATGAATATATTCCGGCGCTTAATGCCACGCCGGa     <  1:3981405/62‑1 (MQ=255)
                                                                   tctcCCTCGGTGCCGGCGGGAAAAAATATGAatata                              <  1:4938660/36‑1 (MQ=255)
                                                                      |                                                            
ATGTGCCCGGGCTTTGCTGCGGATTGTCTGGAGACGCTGGAAGAGATTGCCGAGCAAAACCGTGAGGTCTCCCTCGGTGCCGGCGGGAAAAAATATGAATATATTCCGGCGCTTAATGCCACGCCGGAACA  >  Exported/327316‑327446

Alignment Legend
Aligned base mismatch/match (shaded by quality score): ATCG/ATCG < 3 ≤ ATCG/ATCG < 21 ≤ ATCG/ATCG < 32 ≤ ATCG/ATCG < 36 ≤ ATCG/ATCG
Unaligned base: atcg    Masked matching base: atcg    Alignment gap:     Deleted base: