Predicted mutation
evidence seq id position mutation freq annotation gene description
RA Exported 2,385,450 C→T 8.5% L37L (CTG→CTA metE ← 5‑methyltetrahydropteroyltriglutamate‑ homocysteine S‑methyltransferase

Read alignment evidence...
  seq id position ref new freq score (cons/poly) reads annotation genes product
*Exported2,385,4500CT 8.5% 179.4 / 6.1 59L37L (CTG→CTAmetE5‑methyltetrahydropteroyltriglutamate‑ homocysteine S‑methyltransferase
Reads supporting (aligned to +/- strand):  ref base C (18/36);  new base T (2/3);  total (20/39)
Fisher's exact test for biased strand distribution p-value = 1.00e+00
Kolmogorov-Smirnov test that lower quality scores support variant p-value = 7.76e-01

GGCAGCAGGTCGATACCCGCTTGCTTTTGTTGATCCCAGTGACGAGCACGCAATTCACGCCCTACCGCCAGCAGTTCTTCACGCGTGGAGTTCCCCGCCCAATAACTTTCTTGCGCTTTTTTCAGCTCGCGACGCAGG  >  Exported/2385382‑2385519
                                                                    |                                                                     
ggCAGCAGGTCGATACCCGCTTGCTTTTGTTGATCCCAGTGACGAGCACGCAATTCACGCCCTACCGCcag                                                                     >  1:3077301/1‑71 (MQ=255)
    gcagGTCGATACCCGCTTGCTTTTGTTGATCCCAGTGACGAGCACGCAATTCACGCCCTACCGCCAGCAGt                                                                 <  1:2571327/71‑1 (MQ=255)
    gcagGTCGATACCCGCTTGCTTTTGTTGATCCCAGTGACGAGCACGCAATTCACGCCCTACCGCCAGCAGt                                                                 >  1:1258883/1‑71 (MQ=255)
    gcagGTCGATACCCGCTTGCTTTTGTTGATCCCAGTGACGAGCACGCAATTCACGCCCTACCGCCAGCAGt                                                                 <  1:1621385/71‑1 (MQ=255)
       ggTCGATACCCGCTTGCTTTTGTTGATCCCAGTGACGAGCACGCAATTCACGCCCTACCGCCAGCAGttct                                                              <  1:1708345/71‑1 (MQ=255)
       ggTCGATACCCGCTTGCTTTTGTTGATCCCAGTGACGAGCACGCAATTCACGCCCTACCGCCAGCAGttct                                                              <  1:3615829/71‑1 (MQ=255)
        gTCGATACCCGCTTGCTTTTGTTGATCCCAGTGACGAGCACGCAATTCACGCCCTACCGCCAGCAGttctt                                                             <  1:2961710/71‑1 (MQ=255)
        gTCGATACCCGCTTGCTTTTGTTGATCCCAGTGACGAGCACGCAATTCACGCCCTACCGCCAGCAGt                                                                 <  1:444203/67‑1 (MQ=255)
         tCGATACCCGCTTGCTTTTGTTGATCCCAGTGACGAGCACGCAATTCACGCCCTACCGCCAGCAGttcttc                                                            <  1:195898/71‑1 (MQ=255)
           gATACCCGCTTGCTTTTGTTGATCCCAGTGACGAGCACGCAATTCACGCCCTACCGcc                                                                       <  1:3485168/58‑1 (MQ=255)
           gATACCCGCTTGCTTTTGTTGATCCCAGTGACGAGCACGCAATTCACGCCCTACCGcc                                                                       <  1:1387697/58‑1 (MQ=255)
           gATACCAGCTTGCTTTTGTTGATCCCAGTGACGAGCACGCAATTCACGCCCTACCGcc                                                                       <  1:2972388/58‑1 (MQ=255)
            aTACCCGCTTGCTTTTGTTGATCCCAGTGACGAGCACGCAATTCACGCCCTACCGCCAGCAGTTCTTCAcg                                                         <  1:340748/71‑1 (MQ=255)
                ccGCTTGCTTTTGTTGATCCCAGTGACGAGCACGCAATTCACGCCCTACCGCCAGCAGTTCTTCACGCGTg                                                     <  1:434003/71‑1 (MQ=255)
                ccGCTTGCTTTTGTTGATCCCAGTGACGAGCACGCAATTCACACCCTACCGCCAGCAGTTCTTCACGCGTg                                                     <  1:3524741/71‑1 (MQ=255)
                 cGCTTGCTTTTGTTGATCCCAGTGACGAGCACGCAATTCACGCCCTACCGCCAGCAGTTCTTCACGCGTgg                                                    <  1:2312362/71‑1 (MQ=255)
                   cttgcttTTGTTGATCCCAGTGACGAGCACGCAATTCACGCCCTACCGCCAGCAGTTCTTCACGCGTg                                                     <  1:1341784/68‑1 (MQ=255)
                   cttgcttTTGTTGATCCCAGTGACGAGCACGCAATTCACGCCCTACCGCCAGCAGTTCTTCACGCGTGGAg                                                  <  1:2296140/71‑1 (MQ=255)
                   cttgcttTTGTTGATCCCAGTGACGAGCACGCAATTCACGCCCTACCGCCAGCAGTTCTTCACGCGTGGAg                                                  <  1:971099/71‑1 (MQ=255)
                   cttgcttTTGTTGATCCCAGTGACGAGCACGCAATTCACGCCCTACCGCCAGCAGTTCTTCACGCGTGGAg                                                  <  1:2742997/71‑1 (MQ=255)
                   cttgcttTTGTTGATCCCAGTGACGAGCACGCAATTCACGCCCTACCGCCAGCAGTTCTTCACGCGTGGAg                                                  >  1:3150684/1‑71 (MQ=255)
                   cttgcttTTGTTGATCCCAGTGACGAGCACGCAATTCACGCCCTACCGCCAGCAGTTCTTCACGCGTGGAg                                                  <  1:1295865/71‑1 (MQ=255)
                     tgcttTTGTTGATCCCAGTGACGAGCACGCAATTCACGCCCTACCGCCAGCAGttctt                                                             <  1:1128464/58‑1 (MQ=255)
                         tttGTTGATCCCAGTGACGAGCACGCAATTCACGCCCTACCGCCAGCAGTTCTTCACGCGTGGAGTTcccc                                            >  1:3377219/1‑71 (MQ=255)
                             ttgATCCCAGTGACGAGCACGCAATTCACGCCCTACCGCCAGCAGTTCTTCACGCGTGGAGTTCCCCGccc                                        <  1:3360878/71‑1 (MQ=255)
                              tgATCCCAGTGACGAGCACGCAATTCACGCCCTACCGCCAGCAGttctt                                                             >  1:799547/1‑49 (MQ=255)
                              tgATCCCAGTGACGAGCACGCAATTCACGCCCTACCGCCAGCAGttctt                                                             >  1:115543/1‑49 (MQ=255)
                              tgATCCCAGTGACGAGCACGCAATTCACGCCCTACCGCCAGCAGttctt                                                             >  1:771016/1‑49 (MQ=255)
                              tgATCCCAGTGACGAGCACGCAATTCACGCCCTACCGCCAGCAGttctt                                                             >  1:2513374/1‑49 (MQ=255)
                                  cccAGTGACGAGCACGCAATTCACGCCCTACCGCcag                                                                     >  1:1181718/1‑37 (MQ=255)
                                  cccAGTGACGAGCACGCAATTCACGCCCTACCGCcag                                                                     >  1:71011/1‑37 (MQ=255)
                                  cccAGTGACGAGCACGCAATTCACGCCCTACCGCcag                                                                     >  1:3667256/1‑37 (MQ=255)
                                  cccAGTGACGAGCACGCAATTCACGCCCTACCGCcag                                                                     >  1:691520/1‑37 (MQ=255)
                                  cccAGTGACGAGCACGCAATTCACGCCCTACCGCca                                                                      >  1:2750084/1‑36 (MQ=255)
                                   ccAGTGACGAGCACGCAATTCACGCCCTACCGCcagca                                                                   >  1:51609/1‑38 (MQ=255)
                                    cAGTGACGAGCACGCAATTCACGCCCTACCGCTAGCAGTTCTTCACGCGTgg                                                    <  1:1136681/52‑1 (MQ=255)
                                    cAGTGACGAGCACGCAATTCACGCCCTACCGCTAGCAGTTCTTCACGCGTgg                                                    <  1:2789484/52‑1 (MQ=255)
                                    cAGTGACGAGCACGCAATTCACGCCCTACCGCTAGCAGTTCTTCACGCGTgg                                                    <  1:1073443/52‑1 (MQ=255)
                                    cAGTGACGAGCACGCAATTCACGCCCTACCGCCAGCAGTTCTTCACGCGTGGAGTTCCCCGCCCAATAACt                                 <  1:1971335/71‑1 (MQ=255)
                                     aGTGACGAGCACGCAATTCACGCCCTACCGCCAGCAGTTCTTCACGCGTGGAGTTCCCCGCCCAATAACt                                 <  1:3433868/70‑1 (MQ=255)
                                      gTGACGAGCACGCAATTCACGCCCTACCGCTAGCAGTTCTTCACGCGTGGAg                                                  >  1:1501637/1‑52 (MQ=255)
                                      gTGACGAGCACGCAATTCACGCCCTACCGCTAGCAGTTCTTCACGCGTGGAg                                                  >  1:615484/1‑52 (MQ=255)
                                       tGACGAGCACGCAATTCACGCCCTACCGCCAGCAGTTCTTCACGCGTGGAGTTCCCCGCCCAATAACTTTc                              <  1:352904/71‑1 (MQ=255)
                                       tGACGAGCACGCAATTCACGCCCTACCGCCAGCAGTTCTTCACGCGTGGAGTTCCCCGCCCAATAACTTTc                              <  1:421107/71‑1 (MQ=255)
                                         aCGAGCACGCAATTCACGCCCTACCGCCAGCAGTTCTTCACGCGTGGAGTTCCCCGCCCAATAACTTTCtt                            >  1:2639640/1‑71 (MQ=255)
                                          cGAGCACGCAATTCACGCCCTACCGCCAGCAGttctt                                                             <  1:2039108/37‑1 (MQ=255)
                                          cGAGCACGCAATTCACGCCCTACCGCCAGCAGTTCTTCACGCGTGGAGTTCCCCGCCCAATAACTTTCTTg                           >  1:1628065/1‑71 (MQ=255)
                                           gAGCACGCAATTCACGCCCTACCGCCAGCAGTTCTTCACGCGTGGAGTTCCCCGCCCAATAACTTTCTTgc                          >  1:2356414/1‑71 (MQ=255)
                                             gCACGCAATTCACGCCCTACCGCCAGCAGTTCTTCACGCGTGGAGTTCCCCg                                           >  1:2924249/1‑52 (MQ=255)
                                               aCGCAATTCACGCCCTACCGCCAGCAGTTCTTCACGCGTGGAGTTCCCCGCCCAATAACTTTCtt                            >  1:1039220/1‑65 (MQ=255)
                                               aCGCAATTCACGCCCTACCGCCAGCAGTTCTTCACGCGTGGAGTTCCCCGCCCAATAACTTTCTTGCGCtt                      <  1:1901171/71‑1 (MQ=255)
                                                 gCAATTCACGCCCTACCGCCAGCAGTTCTTCACGCGTGGAGTTCCCCGCCCAATAACTTTCTTGCGCtttt                    <  1:2544320/71‑1 (MQ=255)
                                                 gCAATTCACGCCCTACCGCCAGCAGTTCTTCACGCGTGGAGTTCCCCGCCCAATAACTTTCTTGCGCtttt                    <  1:1390840/71‑1 (MQ=255)
                                                 gCAATTCACGCCCTACCGCCAGCAGTTCTTCACGCGTAGAGTTCCCCGCCCAATAACTTTCTTGCGCtttt                    <  1:775952/71‑1 (MQ=255)
                                                   aaTTCACGCCCTACCGCCAGCAGTTCTTCACGCGTGGAGTTCCCCGCCCAATAACTTTCTTGCGCtttttt                  >  1:954683/1‑71 (MQ=255)
                                                   aaTTCACGCCCTACCGCCAGCAGTTCTTCACGCGTGGAGTTCCCCGCCCAATAACTTTCTTGCGCtttttt                  <  1:3600135/71‑1 (MQ=255)
                                                   aaTTCACGCCCTACCGCCAGCAGTTCTTCACGCGTGGAGTTCCCCGCCCAATAACTTTCTTGCGCtttttt                  <  1:233038/71‑1 (MQ=255)
                                                     ttCACGCCCTACCGCCAGCAGTTCTTCACGCGTGGAGTTCCCCGCCCAATAACTTTCTTGCGCtttttt                  <  1:2707415/69‑1 (MQ=255)
                                                       cACGCCCTACCGCCAGCAGTTCTTCACGCGTGGAGTTCCCCGCCCAATAACTTTCTTGCGCTTTTTTCAg               <  1:1193991/70‑1 (MQ=255)
                                                        aCGCCCTACCGCCAGCAGTTCTTCACGCGTGGAGTTCCCCGCCCAATAACTTTCTTGCGCTTTTTTCAGCt             <  1:634899/71‑1 (MQ=255)
                                                         cGCCCTACCGCCAGCAGTTCTTCACGCGTGGAGTTCCCCGCCCAATAACTTTCTTGCGCTTTTTTCAGCTc            >  1:3374532/1‑71 (MQ=255)
                                                          tcccTACCGCCAGCAGTTCTTCACGCGTGGAGTTCCCCGCCCAATAACTTTCTTGCGCt                       <  1:2594863/58‑1 (MQ=255)
                                                          gCCCTACCGCCAGCAGTTCTTCACGCGTGGAGTTCCCCGCCCAATAACTTTCTTGCGCt                       <  1:2291876/59‑1 (MQ=255)
                                                          gCCCTACCGCCAGCAGTTCTTCACGCGTGGAGTTCCCCGCCCAATAACTTTCTTGCGCt                       <  1:2071600/59‑1 (MQ=255)
                                                            ccTACCGCCAGCAGTTCTTCACGCGTGGAGTTCCCCGCCCAATAACTTTCTTGCGCTTTTTTCAGCTcgc          >  1:1017298/1‑70 (MQ=255)
                                                                ccGCCAGCAGTTCTTCACGCGTGGAGTTCCCCGCCCAATAACTTTCTTGCGCTTTTTTCAGCTCGCGAc       <  1:23429/69‑1 (MQ=255)
                                                                ccGCCAGCAGTTCTTCACGCGTGGAGTTCCCCGCCCAATAACTTTCTTGCGCTTTTTTCAGCTCGCGACg      >  1:2392070/1‑70 (MQ=255)
                                                                ccGCCAGCAGTTCTTCACGCGTGGAGTTCCCCGCCCAATAACTTTCTTGCGCTTTTTTCAGCTCGCGACg      >  1:3450511/1‑70 (MQ=255)
                                                                  gCCAGCAGTTCTTCACGCGTGGAGTTCCCCGCCCAATAACTTTCTTGCGCTTTTTTCAGCTCGCGACGCAg   >  1:998995/1‑71 (MQ=255)
                                                                   ccAGCAGTTCTTCACGCGTGGAGTTCCCCGCCCAATAACTTTCTTGCGCTTTTTTCAGCTCGCGACGCAgg  >  1:1019410/1‑71 (MQ=255)
                                                                    |                                                                     
GGCAGCAGGTCGATACCCGCTTGCTTTTGTTGATCCCAGTGACGAGCACGCAATTCACGCCCTACCGCCAGCAGTTCTTCACGCGTGGAGTTCCCCGCCCAATAACTTTCTTGCGCTTTTTTCAGCTCGCGACGCAGG  >  Exported/2385382‑2385519

Alignment Legend
Aligned base mismatch/match (shaded by quality score): ATCG/ATCG < 3 ≤ ATCG/ATCG < 27 ≤ ATCG/ATCG < 32 ≤ ATCG/ATCG < 36 ≤ ATCG/ATCG
Unaligned base: atcg    Masked matching base: atcg    Alignment gap:     Deleted base: