Predicted mutation
evidence seq id position mutation freq annotation gene description
RA Exported 190,065 G→A 26.0% R521H (CGT→CAT)  ldcC → lysine decarboxylase 2, constitutive

Read alignment evidence...
  seq id position ref new freq score (cons/poly) reads annotation genes product
*Exported190,0650GA26.0% 82.0 / 27.1 50R521H (CGT→CAT) ldcClysine decarboxylase 2, constitutive
Reads supporting (aligned to +/- strand):  ref base G (21/16);  new base A (4/9);  total (25/25)
Fisher's exact test for biased strand distribution p-value = 1.96e-01
Kolmogorov-Smirnov test that lower quality scores support variant p-value = 7.04e-01

AATATGAGCGAGGAGGGGATCCCGGCGGCGCTGGTAGCAAAATTCCTCGACGAACGTGGGATCGTAGTAGAGAAAACCGGCCCTTATAACCTGCTGTTTCTCTTTAGTATTGGCATCGATA  >  Exported/190010‑190130
                                                       |                                                                 
aaTATGAGCGAGGAGGGGATCCCGGCGGCGCTGGTAGCAAAATTCCTCGACGAACGTGGGATCGTAGTaga                                                    <  1:4745519/71‑1 (MQ=255)
    tGAGCGAGGAGGGTATCCCGGCGGCGCTGGTAGCAAAATTCCTCGACGAACGTGGGATCGTAGTAGAGaa                                                 <  1:2350713/70‑1 (MQ=255)
    tGAGCGAGGAGGGGATCCCGGCGGCGCTGGTAGCAAAATTCCTCGACGAACGTGGGATCGTAGTagag                                                   >  1:5387258/1‑68 (MQ=255)
    tGAGCGAGGAGGGGATCCCGGCGGCGCTGGTAGCAAAATTCCTCGACGAACGTGGGATCGTAGTAGAGaa                                                 >  1:1456284/1‑70 (MQ=255)
    tGAGCGAGGAGGGGATCCCGGCGGCGCTGGTAGCAAAATTCCTCGACGAACGTGGGATCGTAGTAGAGaa                                                 <  1:2023902/70‑1 (MQ=255)
      aGCGAGGAGGGGATCCCGGCGGCGCTGGTAGCAAAATTCCTCGACGAACGTGGGATCgtag                                                        >  1:2358403/1‑61 (MQ=255)
      aGCGAGGAGGGGATCCCGGCGGCGCTGGTAGCAAAATTCCTCGACGAACGTGGGATCgta                                                         >  1:442191/1‑60 (MQ=255)
          aggaggGGATCCCGGCGGCGCTGGTAGCAAAATTCCTCGACGAACGTGGGATCGTAGTAGAGAAAACCGGc                                          >  1:3891542/1‑71 (MQ=255)
                    cccGGCGGCGCTGGTAGCAAAATTCCTCGACGAACGTGGGATCgt                                                          <  1:5321746/45‑1 (MQ=255)
                    cccGGCGGCGCTGGTAGCAAAATTCCTCGACGAACGTGGGATCgt                                                          <  1:2847685/45‑1 (MQ=255)
                      cggcggCGCTGGTAGCAAAATTCCTCGACGAACGTGGGATCgtag                                                        >  1:3050286/1‑45 (MQ=255)
                      cggcggCGCTGGTAGCAAAATTCCTCGACGAACGTGGGATCgtag                                                        >  1:641688/1‑45 (MQ=255)
                      cggcggCGCTGGTAGCAAAATTCCTCGACGAACGTGGGATCGTAGTAGAGAAAACCGGCCCTTATAACctg                              >  1:4643796/1‑71 (MQ=255)
                       ggcggcGCTGGTAGCAAAATTCCTCGACGAACGTGGGATCGTAGTAGAGAAAACCGGCCCTta                                     <  1:1127544/63‑1 (MQ=255)
                       ggcggcGCTGGTAGCAAAATTCCTCGACGAACGTGGGATCGTAGTAGAGAAAACCGGCCCTTATAACctgc                             <  1:1885781/71‑1 (MQ=255)
                               tGGTAGCAAAATTCCTCGACGAACGTGGGATCGTAGTAGAGAAAACCGGCCCTTATAACCTGCTGTTtctc                     >  1:5501753/1‑71 (MQ=255)
                                 gTAGCAAAATTCCTCGACGAACGTGGGATCGTAGTAGAGAAAACCg                                            >  1:3409359/1‑46 (MQ=255)
                                 gTAGCAAAATTCCTCGACGAACGTGGGATCGTAGTAGAGAAAACCGGcc                                         <  1:3979568/49‑1 (MQ=255)
                                 gTAGCAAAATTCCTCGACGAACGTGGGATCGTAGTAGAGAAAACCGGcc                                         <  1:3856959/49‑1 (MQ=255)
                                  tAGCAAAATTCCTCGACGAACGTGGGATCGTAGTaga                                                    <  1:5169902/37‑1 (MQ=255)
                                     cAAAATTCCTCGACGAACGTGGGATCGTAGTAGAGAAAACCGGCCCtt                                      <  1:4343062/48‑1 (MQ=255)
                                     cAAAATTCCTCGACGAACGTGGGATCGTAGTAGAGAAAACCGGCCCtt                                      <  1:3965627/48‑1 (MQ=255)
                                     cAAAATTCCTCGACGAACGTGGGATCGTAGTAGAGAAAACCGGCCCTTATAACCTGCTGTTTCTCTTTa                 <  1:4080404/69‑1 (MQ=255)
                                     cAAAATTCCTCGACGAACGTGGGATCGTAGTAGAGAAAACCGGCCCTTATAACCTGCTGTTTCTCTTTAg                >  1:3135692/1‑70 (MQ=255)
                                      gaaaTACCTCGACGAACATGGCATCGTTGTTGAGAAAACCGGTCCGTATAACCTGCTGTTCCTGTTCAgca              <  1:1921034/70‑3 (MQ=255)
                                      gaaaTACCTCGACGAACATGGCATCGTTGTTGAGAAAACCGGTCCGTATAACCTGCTGTTCCTGTTCAgca              <  1:2563564/70‑3 (MQ=255)
                                      aaaaTTCCTCGACGAACGTGGGATCGTAGTAGAGAAAACCGGCCCTTATAACCTGCTGTTTCTCTTTAGTa              >  1:5446262/1‑71 (MQ=255)
                                       aaaTACCTCGACGAACATGGCATCGTTGTTGAGAAAACCGGTCCGTATAACCTGCTGTTCCTGttc                  <  1:212265/66‑2 (MQ=255)
                                        aaTTCCTCGACGAACGTGGGATCGTAGTAGAGaaa                                                <  1:1631540/35‑1 (MQ=255)
                                        aaTACCTCGACGAACATGGCATCGTTGTTGAGAAAACCGGTCCGTATAACCTGCTGTTCCTGTTCAGCAtc            >  1:3633037/1‑70 (MQ=255)
                                         aTTCCTCGACGAACGTGGGATCGTAGTAGAGaaaa                                               >  1:310909/1‑35 (MQ=255)
                                          ttCCTCGACGAACGTGGGATCGTAGTAGAGAAAAc                                              >  1:4916474/1‑35 (MQ=255)
                                          ttCCTCGACGAACGTGGGATCGTAGTAGAGAAAACCGGCCCTTATAACCTGCTGTTTCTCTTTAGTATTgg          >  1:705990/1‑71 (MQ=255)
                                          taccTCGACGAACATGGCATCGTTGTTGAGAAAACCGGTCCGTATAACCTGCTGTTCCTGTTCAGCATCgg          <  1:164118/69‑1 (MQ=255)
                                             cTCGACGAACATGGCATCGTTGTTGAGAAAACCGGTCCGTATAACCTGCTGTTCCTGTTCAGCATCGGTAt       >  1:880512/1‑71 (MQ=255)
                                               cgacgaACGTGGGATCGTAGTAGAGAAAACCGGCCCTTATAACCTGCTGTTTCTCTTTAGTAt             <  1:973463/63‑1 (MQ=255)
                                               cgacgaACGTGGGATCGTAGTAGAGAAAACCGGCCCTTATAACCTGCTGTTTCTCTTTAGTATTGGCATc      >  1:682283/1‑70 (MQ=255)
                                                gacgaACGTGGGATCGTAGTAGAGAAAACCGGCCCTTATAAc                                 >  1:5039417/1‑42 (MQ=255)
                                                gacgaACGTGGGATCGTAGTAGAGAAAACCGGCCCTTATAAc                                 >  1:2433211/1‑42 (MQ=255)
                                                gacgaACATGGCATCGTTGTTGAGAAAACCGGTCCGTATAACCTGCTGTTCCTGTTCAGCATCGGTATc      <  1:4136023/69‑1 (MQ=255)
                                                gacgaACATGGCATCGTTGTTGAGAAAACCGGTCCGTATAACCTGCTGTTCCTGTTCAGCATCGGTATc      <  1:288101/69‑1 (MQ=255)
                                                 acgaACATGGCATCGTTGTTGAGAAAACCGGTCCGTATAACCTGCTGTTCCTGTTCAGCATCGGTATCGa    >  1:3479110/1‑70 (MQ=255)
                                                 acgaACATGGCATCGTTGTTGAGAAAACCGGTCCGTATAACCTGCTGTTCCTGTTCAGCATCGGTATCGAt   <  1:3428638/71‑1 (MQ=255)
                                                 acgaACATGGCATCGTTGTTGAGAAAACCGGTCCGTATAACCTGCTGTTCCTGTTCAGCATCGGTATCGAt   <  1:2344690/71‑1 (MQ=255)
                                                  cgaACGTGGGATCGTAGTAGAGAAAACCGGCCCTtata                                   <  1:3088921/38‑1 (MQ=255)
                                                   gaACGTGGGATCGTAGTAGAGAAAACCGGCCCTTATAACCTGCTGTTTCTCTTTAGTATTGGCATCGATa  >  1:4932308/1‑70 (MQ=255)
                                                   gaACATGGCATCGTTGTTGAGAAAACCGGTCCGTATAACCTGCTGTTCCTGTTCAGCAtc            >  1:1705181/1‑59 (MQ=12)
                                                    aaCATGGCATCGTTGTTGAGAAAACCGGTCCGTATAACctgc                             <  1:1434562/42‑1 (MQ=12)
                                                     aCGTGGGATCGTAGTAGAGAAAACCGGCCCTTATAACctgc                             >  1:176999/1‑41 (MQ=255)
                                                     aCGTGGGATCGTAGTAGAGAAAACCGGCCCTTATAACCTGCTGTTTCTCTTTAGTATTGGc         >  1:4708487/1‑61 (MQ=255)
                                                       |                                                                 
AATATGAGCGAGGAGGGGATCCCGGCGGCGCTGGTAGCAAAATTCCTCGACGAACGTGGGATCGTAGTAGAGAAAACCGGCCCTTATAACCTGCTGTTTCTCTTTAGTATTGGCATCGATA  >  Exported/190010‑190130

Alignment Legend
Aligned base mismatch/match (shaded by quality score): ATCG/ATCG < 3 ≤ ATCG/ATCG < 14 ≤ ATCG/ATCG < 32 ≤ ATCG/ATCG < 36 ≤ ATCG/ATCG
Unaligned base: atcg    Masked matching base: atcg    Alignment gap:     Deleted base: