Predicted mutation
evidence seq id position mutation freq annotation gene description
RA Exported 2,918,790 A→C 6.6% T302T (ACT→ACG argI ← ornithine carbamoyltransferase 1

Read alignment evidence...
  seq id position ref new freq score (cons/poly) reads annotation genes product
*Exported2,918,7900AC 6.6% 194.8 / 6.0 75T302T (ACT→ACGargIornithine carbamoyltransferase 1
Reads supporting (aligned to +/- strand):  ref base A (34/36);  new base C (3/2);  total (37/38)
Fisher's exact test for biased strand distribution p-value = 6.74e-01
Kolmogorov-Smirnov test that lower quality scores support variant p-value = 9.83e-01

TTTGATAGTATGCATACGGTTTTCCGCCTGATCAAAAACAATGCTGGCGGCAGATTCGAAGACCTCATCAGTGACTTCCATACCGCCATGTAGGCCAAATTCTTCCGCCATTTTCTTGCCAAGCGTCGTTTGGTCGTCAT  >  Exported/2918721‑2918860
                                                                     |                                                                      
tttGATAGTATGCATACGGTTTTCCGCCTGATCAAAAACAATGCTGGCGGCAGATTCGAAGACCTCATCAg                                                                       >  1:2536734/1‑71 (MQ=255)
  tGATAGTATGCATACGGTTTTCCGCCTGATCAAAAACAATGCTGGCGGCAGATTCGAAGACCTCATCAGt                                                                      <  1:961524/70‑1 (MQ=255)
  tGATAGTATGCATACGGTTTTCCGCCTGATCAAAAACAATGCTGGCGGCAGATTCGAAGACCTCATCAGt                                                                      <  1:1198552/70‑1 (MQ=255)
   gATAGTATGCATACGGTTTTCCGCCTGATCAAAAACAATGCTGGCGGCAGATTCGAAGACCTCATCAGTg                                                                     <  1:2907587/70‑1 (MQ=255)
   gATAGTATGCATACGGTTTTCCGCCTGATCAAAAACAATGCTGGCGGCAGATTCGAAGACCTCATCAGTg                                                                     <  1:3663839/70‑1 (MQ=255)
    aTAGTATGCATACGGTTTTCCGCCTGATCAAAAACAATGCTGGCGGCAGATTCGAAGACCTCATCAGTGAc                                                                   <  1:1445269/71‑1 (MQ=255)
    aTAGTATGCATACGGTTTTCCGCCTGATCAAAAACAATGCTGGCGGCAGATTCGAAGACCTCATCAGTGAc                                                                   >  1:1402036/1‑71 (MQ=255)
     tAGTATCCATACGGTTTTCCGCCTGATCAAAAACAATGCTGGCGGCAGATTCGAAGACCTCATCAGTGACt                                                                  <  1:5361374/71‑1 (MQ=255)
       gTATGCATACGGTTTTCCGCCTGATCAAAAACAATGCTGGCGGCAGATTCGAAGACCTCATCAGTGACTTc                                                                <  1:1345165/71‑1 (MQ=255)
       gTATGCATACGGTTTTCCGCCTGATCAAAAACAATGCTGGCGGCAGATTCGAAGACCTCATCAGTGACTTc                                                                <  1:2452414/71‑1 (MQ=255)
       gTATGCATACGGTTTTCCGCCTGATCAAAAACAATGCTGGCGGCAGATTCGAAGACCTCATCAGTGACTTc                                                                <  1:3007956/71‑1 (MQ=255)
       gTATGCATACGGTTTTCCGCCTGATCAAAAACAATGCTGGCGGCAGATTCGAAGACCTCATCAGTGACTTc                                                                <  1:2635760/71‑1 (MQ=255)
          tGCATACGGTTTTCCGCCTGATCAAAAACAATGCTGGCGGCAGATTCGAAGACCtcatca                                                                        <  1:4097790/60‑1 (MQ=255)
          tGCATACGGTTTTCCGCCTGATCAAAAACAATGCTGGCGGCAGATTCGAAGACCTCATCAGTGACTTCCa                                                              >  1:4739036/1‑70 (MQ=255)
            cATCCGGTTTTCCGCCTGGTCGAACACGATGCTCGCCGCCGACTCAAACACCTCGTCCGTCACCTCCAtcc                                                           >  1:3895276/1‑69 (MQ=255)
             aTACGGTTTTCCGCCTGATCAAAAACAATGCTGGCGGCAGATTCGAAGACCTCATCAGTGACTTCCATAcc                                                          >  1:4716868/1‑71 (MQ=255)
              tACGGTTTTCCGCCTGATCAAAAACAATGCTGGCGGCAGATTCGAAGACCTCATCAGTGACTTc                                                                <  1:3943634/64‑1 (MQ=255)
               ccGGTTTTCCGCCTGGTCGAACACGATGCTCGCCGCCGACTCAAACACCTCGTCCGTCACCTCCATCCCGc                                                        >  1:1221099/2‑71 (MQ=255)
                cGGTTTTCCGCCTGGTCGAACACGATGCTCGCCGCCGACTCAAACACCTCGTCCGTCACCTCCATCCCGc                                                        >  1:4455993/1‑70 (MQ=255)
                cGGTTTTCCGCCTGATCAAAAACAATGCTGGCGGCAGATTCGAAGGCCTCATCAg                                                                       >  1:2695654/1‑55 (MQ=255)
                cGGTTTTCCGCCTGATCAAAAACAATGCTGGCGGCAGATTCGAAGACCTCATCAg                                                                       >  1:2339251/1‑55 (MQ=255)
                cGGTTTTCCGCCTGATCAAAAACAATGCTGGCGGCAGATTCGAAGACCTCATCAGTGACTTCCATACCGc                                                        >  1:2264626/1‑70 (MQ=255)
                cGGTTTTCCGCCTGATCAAAAACAATGCTGGCGGCAGATTCGAAGACCTCATCAGTGACTTCCATACCGc                                                        >  1:4756248/1‑70 (MQ=255)
                cGGTTTTCCGCCTGATCAAAAACAATGCTGGCGGCAGATTCGAAGACCTCATCAGTGACTTCCATACCGc                                                        <  1:1832383/70‑1 (MQ=255)
                cGGTTTTCCGCCTGATCAAAAACAATGCTGGCGGCAGATTCGAAGACCTCATCAGTGACTTCCATACCGc                                                        >  1:2323733/1‑70 (MQ=255)
                cGGTTTTCCGCCTGATCAAAAACAATGCTGGCGGCAGATTCGAAGACCTCATCAGTGACTTCCATACCGc                                                        >  1:1584815/1‑70 (MQ=255)
                   ttttCCGCCTGGTCGAACACGATGCTCGCCGCCGACTCAAACACCTCGTCCGTCACCTCCATCCCGCCGTg                                                    <  1:2992857/71‑1 (MQ=255)
                   ttttCCGCCTGGTCGAACACGATGCTCGCCGCCGACTCAAACACCTCGTCCGTCACCTCCATCCCGCCGTg                                                    <  1:818793/71‑1 (MQ=255)
                   ttttCCGCCTGATCAAAAACAATGCTGGCGGCAGATTCGAAGACCTCATCAGTGACTTCCATACCGCCATg                                                    <  1:1080511/71‑1 (MQ=255)
                     ttCCGCCTGATCAAAAACAATGCTGGCGGCAGATTCGAAGACCTCATCAGTGACTTCCATACCGCCATg                                                    >  1:627066/1‑69 (MQ=255)
                     ttCCGCCTGATCAAAAACAATGCTGGCGGCAGATTCGAAGACCTCATCAGTGACTTCCATACCGCCATGt                                                   <  1:1652947/70‑1 (MQ=255)
                     ttCCGCCTGATCAAAAACAATGCTGGCGGCAGATTCGAAGACCTCATCAGTGACTTCCATACCGCCATGt                                                   <  1:5079649/70‑1 (MQ=255)
                     ttCCGCCTGATCAAAAACAATGCTGGCGGCAGATTCGAAGACCTCATCAGTGACTTCCATACCGCCATGt                                                   <  1:132974/70‑1 (MQ=255)
                       ccGCCTGATCAAAAACAATGCTGGCGGCAGATTCGAAGACCTCATCAGTGACTTCCATACCGCCATGTa                                                  <  1:2975957/69‑1 (MQ=255)
                       ccGCCTGATCAAAAACAATGCTGGCGGCAGATTCGAAGACCTCATCAGTGACTTCCATACCGCCATGTAg                                                 <  1:3210685/70‑1 (MQ=255)
                          ccTGATCAAAAACAATGCTGGCGGCAGATTCGAAGACCTCATCAGTGACTTCCATACCGCCATGTAGGCCa                                             <  1:4915402/71‑1 (MQ=255)
                           cTGATCAAAAACAATGCTGGCGGCAGATTCGAAGACCTCATCAGTGACTTCCATACCGCCATGTAGGCCa                                             >  1:1270875/1‑70 (MQ=255)
                           cTGATCAAAAACAATGCTGGCGGCAGATTCGAAGACCTCATCAGTGACTTCCATACCGCCATGTAGGCCa                                             >  1:4355450/1‑70 (MQ=255)
                             gATCAAAAACAATGCTGGCGGCAGATTCGAAGACCTCATCAGTGAc                                                                   <  1:1376599/46‑1 (MQ=255)
                              aTCAAAAACAATGCTGGCGGCAGATTCGAAGACCTCATCAGTGACTTc                                                                <  1:879623/48‑1 (MQ=255)
                              aTCAAAAACAATGCTGGCGGCAGATTCGAAGACCTCATCAGTGACTTCCATACCGCCATGt                                                   <  1:3617310/61‑1 (MQ=255)
                              aTCAAAAACAATGCTGGCGGCAGATTCGAAGACCTCATCAGTGACTTCCATACCGCCATGTa                                                  <  1:5396164/62‑1 (MQ=255)
                              aTCAAAAACAATGCTGGCGGCAGATTCGAAGACCTCATCAGTGACTTCCATACCGCCATGTAGGCCAAAt                                          <  1:4201521/70‑1 (MQ=255)
                              aTCAAAAACAATGCTGGCGGCAGATTCGAAGACCTCATCAGTGACTTCCATACCGCCATGTAGGCCAAAt                                          >  1:2346855/1‑70 (MQ=255)
                               tCAAAAACAATGCTGGCGGCAGATTCGAAGACCTCATCAGTGACTTCCATACCGCCATGTAGGCCAAAt                                          <  1:487271/69‑1 (MQ=255)
                                cAAAAACAATGCTGGCGGCAGATTCGAAGACCTCATCAGTGAc                                                                   >  1:885537/1‑43 (MQ=255)
                                cAAAAACAATGCTGGCGGCAGATTCGAAGACCTCATCAGTGACTTCCa                                                              >  1:4886503/1‑48 (MQ=255)
                                cAAAAACAATGCTGGCGGCAGATTCGAAGACCTCATCAGTGACTTCCa                                                              >  1:3819288/1‑48 (MQ=255)
                                cAAAAACAATGCTGGCGGCAGATTCGAAGACCTCATCAGTGACTTCCa                                                              >  1:243394/1‑48 (MQ=255)
                                cAAAAACAATGCTGGCGGCAGATTCGAAGACCTCATCAGTGACTTCCATACCGCCATGTAg                                                 >  1:5607975/1‑61 (MQ=255)
                                cAAAAACAATGCTGGCGGCAGATTCGAAGACCTAATCAGTGACTTCCa                                                              >  1:5198671/1‑48 (MQ=255)
                                 aaaaaCAATGCTGGCGGCAGATTCGAAGACCTCATCAGTGACTTCCATACCGCCATGTAgg                                                >  1:2195743/1‑61 (MQ=255)
                                 aaaaaCAATGCTGGCGGCAGATTCGAAGACCTCATCAGTGACTTCCATACCGCCATGTAGGCCAAAttctt                                      >  1:1574564/1‑71 (MQ=255)
                                 aaaaaCAATGCTGGCGGCAGATTCGAAGACCTCATCAGTGACTTCCATACCGCCATGTAGGCCAAAttctt                                      >  1:1040042/1‑71 (MQ=255)
                                    aaCAATGCTGGCGGCAGATTCGAAGACCTCATCAGTGACTTCCATACCGCCATGTAGGCCAAATTCTTCCg                                   >  1:2308722/1‑71 (MQ=255)
                                     aCAATGCTGGCGGCAGATTCGAAGACCTCATCAGTGACTTCCATACCGCCATg                                                    >  1:2314143/1‑53 (MQ=255)
                                     aCAATGCTGGCGGCAGATTCGAAGACCTCATCAGTGACTTCCATACCGCCATGTAGGCCAAATTCTTCCGc                                  >  1:234154/1‑71 (MQ=255)
                                     aCAATGCTGGCGGCAGATTCGAAGACCTCATCAGTGACTTCCATACCGCCATGTAGGCCAAATTCTTCCGc                                  <  1:2687385/71‑1 (MQ=255)
                                      cAATGCTGGCGGCAGATTCGAAGACCTCATCAGTGACTTCCATACCGCCATGTAGGCCAAATTCTTcc                                    >  1:2137888/1‑68 (MQ=255)
                                       aaTGCTGGCGGCAGATTCGAAGACCTCATCAGTGACTTCCATACCGCCATGTAGGCCAAATTCTTCCGCCa                                >  1:4400442/1‑71 (MQ=255)
                                        aTGCTGGCGGCAGATTCGAAGACCTCATCAGTGACTTCCATACCGCCATGTAGGCCAAATTCTTCCGCCAt                               >  1:1178884/1‑71 (MQ=255)
                                          gCTGGCGGCAGATTCGAAGACCTCATCAGTGACTTCCATa                                                            >  1:254083/1‑40 (MQ=255)
                                                 gcAGATTCGAAGACCTCATCAGTGACTTCCATACCGCCATGTAGGCCAAATTCTTCCGCCATTTTCTTGcc                      <  1:3290718/71‑1 (MQ=255)
                                                    gATTCGAAGACCTCATCAGTGACTTCCATACCGCCATGTAGGCCAAATTCTTCCGCCATTTTc                           >  1:5507081/1‑63 (MQ=255)
                                                     aTTCGAAGACCTCATCAGTGACTTCCATACCGCCATGt                                                   <  1:1340324/38‑1 (MQ=255)
                                                     aTTCGAAGACCTCATCAGTGACTTCCATACCGCCATGTAGGCCaaa                                           <  1:3330796/46‑1 (MQ=255)
                                                     aTTCGAAGACCTCATCAGTGACTTCCATACCGCCATGTAGGCCaaa                                           <  1:2010187/46‑1 (MQ=255)
                                                     aTTCGAAGACCTCATCAGTGACTTCCATACCGCCATGTAGGCCaaa                                           <  1:1511454/46‑1 (MQ=255)
                                                     aTTCGAAGACCTCATCAGTGACTTCCATACCGCCATGTAGGCCAAATTCTTCCGCCATTTTCTTGcc                      <  1:3529722/67‑1 (MQ=255)
                                                      ttCGAAGACCTCATCAGTGACTTCCATACCGCCATGTAGGCCAAATTCTTCCGCCATTTTCTTGCCAAGcg                 <  1:4182252/71‑1 (MQ=255)
                                                       tCGAAGACCTCATCAGTGACTTCCATACCGCCATGTa                                                  <  1:1340242/37‑1 (MQ=255)
                                                       tCGAAGACCTCATCAGTGACTTCCATACCGCCATGTa                                                  <  1:3882795/37‑1 (MQ=255)
                                                       tCGAAGACCTCATCAGTGACTTCCATACCGCCATGTAGGCCAAATTCTTCCGCCATTTTCTTGcc                      >  1:4531460/1‑65 (MQ=255)
                                                       tCGAAGACCTCATCAGTGACTTCCATACCGCCATGTAGGCCAAATTCTTCCGCCATTTTCTTGCCAAGc                  >  1:434607/1‑69 (MQ=255)
                                                       tCGAAGACCTCATCAGTGACTTCCATACCGCCATGTAGGCCAAATTCTTCCGCCATTTTCTTGCCAAGc                  >  1:3393762/1‑69 (MQ=255)
                                                              ccTCATCAGTGACTTCCATACCGCCATGTAGGCCAAATTCTTCCGCCATTTTCTTGCCAAGCGTCGTTTgg         <  1:2863999/71‑1 (MQ=255)
                                                                 catcaGTGACTTCCATACCGCCATGTAGGCCAAATTCTTCCGCCATTTTCTTGCCAAGCGTCGTTTGgtcg      >  1:2329362/1‑71 (MQ=255)
                                                                  atcaGTGACTTCCATACCGCCATGTAGGCCAAATTCTTCCGCCATTTTCTTGc                       >  1:336684/1‑53 (MQ=255)
                                                                  atcaGTAACTTCCATACCGCCATGTAGGCCAAATTCTTCCGCCATTTTCTTGCCAAGCGTCGttt           >  1:9642/1‑65 (MQ=255)
                                                                  atcaGTAACTTCCATACCGCCATGTAGGCCAAATTCTTCCGCCATTTTCTTGCCAAGCGTCGttt           >  1:3158/1‑65 (MQ=255)
                                                                   tcaGTGACTTCCATACCGCCATGTAGGCCAAAttct                                       <  1:2308195/36‑1 (MQ=255)
                                                                   tcaGTGACTTCCATACCGCCATGTAGGCCAAATTCTTCCGCCATTTTCTTGCCAAGCGTCGttt           <  1:1716639/64‑1 (MQ=255)
                                                                    caGTGACTTCCATACCGCCATGTAGGCCAAATTCTTCCGCCATTTTCTTGCCAAGCGTCGTTTGGTCGTCa   >  1:3211959/1‑71 (MQ=255)
                                                                     aGTGACTTCCATACCGCCATGTAGGCCAAATTCTTCCGCCATTTTCTTGCCAAGCGTCGTTTGGTCGTCAt  <  1:4536450/71‑1 (MQ=255)
                                                                     aGTGACTTCCATACCGCCATGTAGGCCAAATTCTTCCGCCATTTTCTTGCCAAGCGTCGTTTGGTCGTCAt  >  1:3955391/1‑71 (MQ=255)
                                                                     aGTGACTTCCATACCGCCATGTAGGCCAAATTCTTCCGCCATTTTCTTGCCAAGCGTCGTTTGGTCGTCAt  >  1:3066760/1‑71 (MQ=255)
                                                                     |                                                                      
TTTGATAGTATGCATACGGTTTTCCGCCTGATCAAAAACAATGCTGGCGGCAGATTCGAAGACCTCATCAGTGACTTCCATACCGCCATGTAGGCCAAATTCTTCCGCCATTTTCTTGCCAAGCGTCGTTTGGTCGTCAT  >  Exported/2918721‑2918860

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: