Predicted mutation
evidence	seq id	position	mutation	annotation	gene	description
RA	NC_000913_3_hsa_tpiA	3,815,811	C→A	intergenic (‑43/+23)	pyrE ← / ← rph	orotate phosphoribosyltransferase/ribonuclease PH (defective);enzyme; Degradation of RNA; RNase PH

Read alignment evidence...
	seq id	position		ref	new	freq	score (cons/poly)	reads	annotation	genes	product
*	NC_000913_3_hsa_tpiA	3,815,811	0	C	A	98.1%	142.5 / NA	52	intergenic (‑43/+23)	pyrE/rph	orotate phosphoribosyltransferase/ribonuclease PH (defective);enzyme; Degradation of RNA; RNase PH
Reads supporting (aligned to +/- strand):  ref base C (1/0);  new base A (25/26);  total (26/26)
Fisher's exact test for biased strand distribution p-value = 1.00e+00
Kolmogorov-Smirnov test that lower quality scores support variant p-value = 1.00e+00

AAGAAATAGGGGCTTTTGCGCCCGGATTTCAGCGTAAACTCGCCAAACTTTAACACCTGCTTGCTAAGCGCAAATTCAATAAACTGGCGCTGATATGGTTTCATGCCTTCGCTCCTCATCTTACTTTTCTACAGACAAAAAAAAGGCGACTCATCAGTCGCCTTAAAAATCAGTTTGCCAGCGCCGCCTTCTGCGTCGCTACAATGGATTCGAT‑TCCCCTCGGGCCAGAGCCAACAAGATGAGTAGCTCTTCATGGGTGAACGGCTCGCCTTCTGCCGTCCCCTGCAC  >  NC_000913_3_hsa_tpiA/3815665‑3815952                                                                                                                                                   |                                                                                                                                               aagaaATAGGGGCTTTTGCGCCCGGATTTCAGCGTAAACTCGCCAAACTTTAACACCTGCTTGCTAAGCGCAAATTCAATAAACTGGCGCTGATATGGTTTCATGCCTTCGCTCCTCATCTTACTTTTCTCCAGACCAAAAATAGgaga                                                                                                                                              >  1:702106/1‑149 (MQ=255)   gaaATAGGGGCTTTTGCGCCCGGATTTCAGCGTAAACTCGCCAAACTTTAACACCTGCTTGCTAAGCGCAAATTCAATAAACTGGCGCTGATATGGTTTCATGCCTTCGCTCCTCATCTTACTTTTCTCCAGACAAAAAAAAGGAGACt                                                                                                                                            >  1:494224/1‑149 (MQ=255)    aaaTAGGGGCTTTTGCGCCCGGATTTCAGCGTAAACTCGCCAAACTTTAACACCTGCTTGCTAAGCGCAAATTCAATAAACTGGCGCTGATATGGTTTCATGCCTTCGCTCCTCATCTTACTTTTCTACAGACAAAAAAAAGGAGACtc                                                                                                                                           >  2:166632/1‑149 (MQ=255)      aTAGGGGCTTTTGCGCCCGGATTTCAGCGTAAACTCGCCAAACTTTAACACCTGCTTGCTAAGCGCAAATTCAATAAACTGGCGCTGATATGGTTTCATGCCTTCGCTCCTCATCTTACTTTTCTACAGACAAAAAAAAGGAGACtcat                                                                                                                                         <  1:638845/149‑1 (MQ=255)        aGGGGCTTTTGCGCCCGGATTTCAGCGTAAACTCGCCAAACTTTAACACCTGCTTGCTAAGCGCAAATTCAATAAACTGGCGCTGATATGGTTTCATGCCTTCGCTCCTCATCTTACTTTTCTACAGACAAAAAAAAGGAGACtcatca                                                                                                                                       <  1:730601/149‑1 (MQ=255)                      ccGGATTTCAGCGTAAACTCGCCAAACTTTAACACCTGCTTGCTAAGCGCAAATTCAATAAACTGGCGCTGATATGGTTTCATGCCTTCGCTCCTCATCTTACTTTTCTACAGACAAAAAAAAGGAGACTCATCAGTCGCCTGCAAAAt                                                                                                                         >  1:627356/1‑149 (MQ=255)                               aGCGTAAACTCGCCAAACTTTAACACCTGCTTGCTAAGCGCAAATTCAATAAACTGGCGCTGATATGGTTTCATGCCTTCGCTCCTCATCTTACTTTTCTACAGACAAAAAAAAGGAGACTCATCAGTCGCCTTAAAAATCAGTTTGcc                                                                                                                <  1:694180/149‑1 (MQ=255)                                            cAAACTTTAACATCTGCTTGCTAAGCGCAAATTCAATAAACTGGCGCTGATATGGTTTCATGCCTTCGCTCCTCATCTTACTTTTCTTCAGACAAAAAAAAGGAGACTCATCAGTCGCCTTAAAAATCAGTTTGCCAGCGCCGCCTTCt                                                                                                   <  1:349449/149‑1 (MQ=255)                                            cAAACTTTAACACCTGCTTGCTAAGCGCAAATTCAATAAACTGGCGCTGATATGGTTTCATGCCTTCGCTCCTCATCTTACTTTTCTACAGACAAAAAAAAGGAGACTCATCAGTCGCCTTAAAACTCAGTTTGCCAGCGCCGCCTTCt                                                                                                   >  1:137586/1‑149 (MQ=255)                                             aaaaTTCAACACCTGCTTGCTAAGCGCAAATTCAATAAACTGGCGCTGATATGGTTTCATGCCTTCGCTCCTCATCTTACTTTTCTACAGACAAAAAAAAGGAGACTCATCAGTCGCCTTAAAAATCAGTTTGCCAGCGCCGCCTTCTg                                                                                                  <  1:701460/149‑1 (MQ=255)                                                 tttAACACCTGCTTGCTAAGCGCAAATTCAATAAACTGGCGCTGATATGGTTTCATGCCTTCGCTCCTCATCTTACTTTTCTACAGACAAAAAAAAGGAGACTCATCAGTCGCCTTAAAAATCAGTTTGCCAGCGCAGCCTTCTGCGTc                                                                                              >  2:621997/1‑149 (MQ=255)                                                        ccggcttgctAAAGGCAAATTAAATAAACCGGCGTTGCTATGGTTTCATGCCTTCGCTCCTCATCTTACTTTTCTAAAGACAAAAAAAAGGAGACTCATCAGTCGCCTTAAAAATCAGTTTGCCAGCGCCGCCTTCTGCGTCGCTACaa                                                                                       <  2:348949/146‑1 (MQ=255)                                                        ccTGCTTGCTAAGCGCAAATTCAATAAACTGGCGCTGATATGGTTTCATGCCTTCGCTCCTCATCTTACTTTTCTCCAGACAAAAAAAATGAAACACATCAATCGCCTTAAAAATCAGTTTGCCAGCTCCGCCTTCTGCGTCGCTACaa                                                                                       >  1:192721/1‑149 (MQ=255)                                                        ccTGCTTGCTAAGCGCAAATTCAATAAACTGGCGCTGATATGGTTTCATGCCTTCGCTCCTCATCTTACTTTTCTACAGACAAAAAAAAGGAGACTCATCAGTCGCCTTAAAAATCAGTTTGCCAGCGCCGCCTTCTGCGTCGCTACaa                                                                                       <  1:132243/149‑1 (MQ=255)                                                         cTGCTTGCTAAGCGCAAATTCAATAAACTTGCGCTGATATGGTTTCATGCCTTCGCTCCTCATCTTACTTTTCTACAGACAAAAAAAAGGAGACTCATCAGTCGCCTTAAAAATCAGTTTGCCAGCGCCGCCTTCTGCGTCGCTACAAt                                                                                      <  1:607253/149‑1 (MQ=255)                                                         cTGCTTGCTAAGCGCAAATTCAATAAACTGGCGCTGATATGGTTTCATGCCTTCGCTCCTCATCTTACTTTTCTACAGACAAAAAAAAGGAGACTCATCAGTCGCCTTAAAAATCAGTTTGCCAGCGCCGCCTTCTGCGTCGCTACAAt                                                                                      >  1:632346/1‑149 (MQ=255)                                                             ttgctAAGCGCAAATTCAATAAACTGGCGCTGATATGGTTTCATGCCTTCGCTCCTCATCTTACTTTTCTACAGACAAAAAAAAGGAGACTCATCAGTCGCCTTAAAAATCAGTTTGCCAGCGCCGCCTTCTGCGTCGCTACAATGgat                                                                                  >  1:403753/1‑149 (MQ=255)                                                               gctAAGCGCAAATTCAATAAACTGGCGCTGATATGGTTTCATGCCTTCGCTCCTCATCTTACTTTTCTACAGACAAAAAAAAGGAGACTCATCAGTCGCCTTAAAAATCAGTTTGCCAGCGCCGCCTTCTGGGTCGCTACAATGgattc                                                                                >  2:579774/1‑149 (MQ=255)                                                                 tAAGCGCAAATTCAATAAACTGGCGCTGATATGGTTTCATGCCTTCGCTCCTCATCTTACTTTTCTACAGACAAAAAAAAGGAGACTCATCAGt                                                                                                                                     <  2:54930/94‑1 (MQ=255)                                                                 tAAGCGCAAATTCAATAAACTGGCGCTGATATGGTTTCATGCCTTCGCTCCTCATCTTACTTTTCTACAGACAAAAAAAAGGAGACTCATCAGt                                                                                                                                     >  1:54930/1‑94 (MQ=255)                                                                 tAAGCGCAAATTCAATAAACTGGCGCTGATATGGTTTCATGCCTTCGCTCCTCATCTTACTTTTCTACAGACAAAAAAAAGGAGACTCATCAGTCGCCTTAAAAATCAGTTTGCCAGCGCCGCCTTCTGCGGCGCTCCAATGcattcga                                                                              >  1:1044137/1‑149 (MQ=255)                                                                  aaGCGCAAATTCAATATACTGGCGCTGATATGGTTTCATGCCTTCGCTCCTCATCTTACTTTTCTACAGAGAAAAAAAAGGAGACTCATCAGTCGCCTTAAAAATCAGTTTGCCAGCGCCGCCTTCTGCGTCGCTACAATGgattcgat                                                                             <  1:1046509/149‑1 (MQ=255)                                                                          aTTCAATAAACTGGCGCTGATATGGTTTCATGCCTTCGCTCCTCATCTTACTTTTCTACAGGCAAAAAAAAGGAGACTCATCAGTCGCCTTAAAAATCAGTTTCCCAGCGCCGCCTTCTGCGTCGCTACAACGGGTTCGAT‑Tccccacc                                                                    >  1:243023/1‑146 (MQ=255)                                                                           ttgcatatACTGGCGCTGATATGGTTTCATGCCTTCGCTCCGTATCTTACTTTTCTACAGACAAAAAAAAGGAGACTCATCAGTCGCCTTAAAAATCAGTTTGCCAGCGCCGCCTTCTGCGTCGCTACAATGGATTCGAT‑TCCCCTCgg                                                                   <  2:276011/145‑1 (MQ=255)                                                                           ttCAATAAACTGGCGCTGATATGGTTTCATGCCTTCGCTCCTCCTCTTACTTTTCTACAGACAAAAAAAAGGCGACTCATCAGTCGCCTTAAAAATCAGTTTGCCAGCGCCGCCTTCTGCGTCGCTACATTGGATTCGAT‑TCCCCTCgg                                                                   >  2:188715/1‑149 (MQ=255)                                                                           ttCAATAAACTGGCGCTGATATGGTTTCATGCCTTCGCTCCACATCATGCTGTGCTTCAGGCGGAAAAAAGGAGACTCATCAGTCGCCTTAAAAATCAGTTTGCCAGCGCCGCCTTCTGCGTCGCTACATTGGATGCCGT‑TCCCCTCgg                                                                   >  2:187972/1‑149 (MQ=255)                                                                              aaTAAACTGGCGCTGATATGGTTTCATGCCTTCGCTCCTCATCTTACTTTTCTACAGACAAAAAACAGGAGACTCATCAGTCACATTACAAATCAATTTGCCAGCCCACCATTACGCGGCGCTACAATTGTTCCGAT‑TCCCCGCGGccc                                                                >  2:221912/1‑149 (MQ=255)                                                                                   tcttgcggTGATATGGGTTCATTGACTCGCTCGTGATCTTACATTTTTACAGACAAAAAAAAGGAGACTCATCAGTCGCCTTAACAATCTGTTTGCTAGCGCCGCCTTCTGCGTCGCTATAATGGATTCGAT‑TCCCCTCGGGCCAGAGc                                                           <  2:215759/145‑1 (MQ=255)                                                                                   actgcgtcTGATATGGTTTCATGCCTTCGCTCCTCATCTTACTTTTCTACAGACAAAAAAAAGGAGACTCATCAGTCGCCTTAAAAATCAGTTTGCCAGCGCCGCCTTCTGCGTCGCTACAATGGATTCGAT‑TCCCCTCGGGCCAGAGc                                                           <  2:1027347/142‑1 (MQ=255)                                                                                           tGATATGGTTTCATGCCTTCGCTCCTCATCTTACTTTTCTACAGACAAAAAAAAGGAGACTCATCAGTCGCCTTAAAAATCAGTTTGCCAGCGCCGCCTTCTGCGTCGCTACAATGGATTCGAT‑Tcc                                                                         >  1:345611/1‑127 (MQ=255)                                                                                           tGATATGGTTTCATGCCTTCGCTCCTCATCTTACTTTTCTACAGACAAAAAAAAGGAGACTCATCAGTCGCCTTAAAAATCAGTTTGCCAGCGCCGCCTTCTGCGTCGCTACAATGGATTCGAT‑Tcc                                                                         <  2:345611/127‑1 (MQ=255)                                                                                           tGATATGGTTTCATGCCTTCGCTCCTCATCTTACTTTTCTACAGACAAAAAAAAGGAGACTCATCAGTCGCCTTAAAAATCAGTTTGCCAGCGCCGCCTTCTGCGTCGCTACAATGGATTCGAT‑TCCCCTCGGGCCAGAGCCAACAAGa                                                   >  2:158977/1‑149 (MQ=255)                                                                                            gATATGGTTTCATGCCTGCGCTCCTCATCTTACTTTTCTACAGACAAAAAAAAGGAGACTCATCAGTCGCCTTAAAAATCAGTTTGCCAGCGCCGCCTTCTGCGTCGCTACAATGGATTCGAT‑TCCCCTCGGGCCAGAGCCAACAAGAt                                                  <  2:336946/149‑1 (MQ=255)                                                                                                 ggTTTCATGCCTTCGCTCCTCATCTTACTTTTCTACAGACAAAAAAAAGGAGACTCATCAGTCGCCTTAAAAATCAGTTTGCCAGCGCCGCCTTCTGCGTCACAACAATGGATTCGAT‑TACCCTCGGGCCAGAGCCAACAAGATGAGTa                                             >  1:162825/1‑149 (MQ=255)                                                                                                 ggTTTCATGCCCTCGCTCCTCATCTTACTTTTCTACAGACAAAAAAAAGGAGCCTAACCATTCGCCTTAAAAATCAGTTTGCCAGCGCCGCCTTCTGCGTCGCTACAATGGATTCGAT‑TCCCCTCGGGCCAGAGCCAACAAGATGAGTa                                             <  2:606364/149‑1 (MQ=255)                                                                                                        tGCTTTCGCCCCTCATTTTACTTTTCTACAGACAAAAAAAAGGAGACTCATCAGTCGCTTTAAAAATCAGTTTGCCAGCGCCGCCTTCTGCGTCGCTACAATGGATTCGAT‑TCCCCTCGGGCCAGAGCCAACAAGATGAGTAGCTCTTc                                      <  2:403753/149‑1 (MQ=255)                                                                                                          ccTTCGCTCCTCATCTTACTTTTCTACAGACAAAAAAAAGGAGACTCATCAGTCGCCTTAAAAATCAGTTTGCCAGCGCCGCCTTCTGCGTCGCTACAATGGATTCGAT‑TCCCCTCGGGCCAGAGCCAACAAGATGAGTAGCTCTTCAt                                    <  1:166632/149‑1 (MQ=255)                                                                                                          ccTTCGCTCCTCATCTTACTTTTCTACAGACAAAAAAAAGGAGACTCATCAGTCGCCTTAAAAATCAGTTTGCCAGCGCCGCCTTCTGCGTCGCTACAATGGATTCGAT‑TCCCCTCGGGCCAGAGCCAACAAGATGAGTAGCTCTTCAt                                    <  2:305815/149‑1 (MQ=255)                                                                                                            ttCGCTCCTCATCTTACTTTTCTACAGACAAAAAAAAGGAGACTCATCAGTCGCCTTAAAAATCAGTTTGCCAGCGCCGCCTTCTGCGTCGCTACAATGGATTCGAT‑TCCCCTCGGGCCAGAGCCAACAAGATGAGTAGCTCTTCATgg                                  <  1:683009/149‑1 (MQ=255)                                                                                                            gtCGCTCCTCATCTTACTTTTCGACAGACAAAAAAAAGGAGACTCATCAGTCGCCTTAAAAATCAGTTTGCCAGCGCCGCCTTCTGCGTCGCTACAATGGATTCGAT‑TCCCCTCGGGCCAGAGCCAACAAGATGAGTAGCTCTTCATgg                                  <  2:243023/148‑1 (MQ=255)                                                                                                                ctcctcATCTTACTTTTCTACAGACAAAAAAAAGGAGACTCATCAGTCGCCTTAAAAATCAGTTTGCCAGCGCCGCCTTCTGCGTCGCTACAATGGATTCGAT‑TCCCCTCGGGCCAGAGCCAACAAGATGAGTAGCTCTTCATGGGTGa                              >  1:644950/1‑149 (MQ=255)                                                                                                                 tcctcATCTTACTTTTCTACAGACAAAAAAAAGGAGACTCATCAGTCGCCTTAAAAATCAGTTTGCCAGCGCCGCCTTCTGCGTCGCTACAATGGATTCGAT‑TCCCCTCGGGCCAGAGCCAACAAGATGAGTAGCTCTTCATGGGTGaa                             <  1:158977/149‑1 (MQ=255)                                                                                                                       tCTTATTTTTCTACAGACAATAAAAAGGAGACTCATCAGTCGCCTTAAAAATCAGTTTGCCAGCGCCGCCTTCTGCGTCGCTACAATGGATTCGAT‑TCCCCTCGGGCCAGAGCCAACAAGATGAGTAGCTCTTCATGGGTGAACGGCTc                       <  1:101775/149‑1 (MQ=255)                                                                                                                        cTTACTTTTCTACAGACAAAAAAAAGGAGACTCATCAGTCGCCTTAAAAATCAGTTTGCCAGCGCCGCCTTCTGCGTCGc                                                                                            >  2:219701/1‑80 (MQ=255)                                                                                                                        cTTACTTTTCTACAGACAAAAAAAAGGAGACTCATCAGTCGCCTTAAAAATCAGTTTGCCAGCGCCGCCTTCTGCGTCGc                                                                                            <  1:219701/80‑1 (MQ=255)                                                                                                                         ttACTTTTCTACAGACAAAAAAAAGGAGACTCATCAGTCGCCTTAAAAATCAGTTTGCCAGCGCCGCCTTCTGCGTCTCTACAAACAATACCATAAACCATCGGCTCTG‑GCCAACAAGATGAGTAGCCCTTCATGTGCGCACGGCTCGc                     >  2:239656/1‑149 (MQ=255)                                                                                                                          tattgtgcTACAGACAAAAAAAAGGAGACTCATCAGTCGCCTTAAAAATCAGTTTGCCAGCGCCGCCTTCTGCGTCGCTACAATGGATTCGAT‑TCCCCTCGGGCCAGAGCCAACAAGATGAGTAGCTCTTCATGGGTGAACGGCTCGcc                    <  2:115220/142‑1 (MQ=255)                                                                                                                                    cAGACAAAAAAAAGGAGACTCATCAGTCGCCTTAAAAATCAGTTTGCCAGCGCCGCCTTCTGCGTCGCTACAATGGATTCGAT‑TCCCCTCGGGCCAGAGCCAACAAGATGAGTAGCTCTTCATGGGTGAACGGCTCGCCTTCTGCCGTc          >  2:783480/1‑149 (MQ=255)                                                                                                                                     aaagaaaaaaaaGGAGACTCATCAGTCGCCTAAAAAACCAGTTTGCTAGCTCAGCCTTCGGTGTCGCTACAATGGATTGGCT‑TCCCCTCGGGCCAGAGCCAACAAGATGAGTATCTCTTCATGGGTGAACGGCTCGCCTTCTGCCGTcc         <  2:711206/145‑1 (MQ=255)                                                                                                                                       aCAAAAAAAAGGAGACTCATCAGTCGCCTTAAAAATCAGTTTGCCAGCGCCGCCTTCTGTGTCGCTACAATGGATTCGAT‑TCCCCTCGGGCCAGAGCCAACAAGATGAGTAGCTCTTCATGGGGGAACGGCTGGCCTTCTGCAGTcatc       >  2:851412/1‑146 (MQ=255)                                                                                                                                         aaaaaaaaGGAGACTCATCAGTCGCCTTAAAAATCAGTTTGCCAGCGCCGCCTTCTGCGTCGCTACAATGGCTTCGAT‑TCCCCTCGGGCCAGAGCCAACAAGATGAGTAGCTCTTCATGGGTGAACGGCTCGCCTTTTGCAGTCCCCTg     >  1:620269/1‑149 (MQ=255)                                                                                                                                         aaaaaaaaGGAGACTCATCAGTCGCCTTAAAAATCAGTTTGCCAGCGCCGCCTTCTGCGTCGCTACAATGGATTCGAT‑TCCCCTCGGGCCAGAGCCAACAAGATGAGTAGCTCTTCATGGGTGAACGGCTCGCCTTCTGCCGTCCCCTg     >  1:946634/1‑149 (MQ=255)                                                                                                                                            aaaaaGGAGACTCATCAGTCGCCTTAAAAATCAGTTTGCCAGCGCCGCCTTCTGCGTCGCTACAATGGATTCGAT‑TCCCCTCGGGCCAGAGCCAACAAGATGAGTAGCTCTTCATGGGTGAACGGCTCGCCTTCTGCCGTCCCCTGCAc  >  1:707823/1‑149 (MQ=255)                                                                                                                                                   |                                                                                                                                               AAGAAATAGGGGCTTTTGCGCCCGGATTTCAGCGTAAACTCGCCAAACTTTAACACCTGCTTGCTAAGCGCAAATTCAATAAACTGGCGCTGATATGGTTTCATGCCTTCGCTCCTCATCTTACTTTTCTACAGACAAAAAAAAGGCGACTCATCAGTCGCCTTAAAAATCAGTTTGCCAGCGCCGCCTTCTGCGTCGCTACAATGGATTCGAT‑TCCCCTCGGGCCAGAGCCAACAAGATGAGTAGCTCTTCATGGGTGAACGGCTCGCCTTCTGCCGTCCCCTGCAC  >  NC_000913_3_hsa_tpiA/3815665‑3815952

Alignment Legend
Aligned base mismatch/match (shaded by quality score): ATCG/ATCG < 3 ≤ ATCG/ATCG < 12 ≤ ATCG/ATCG < 13 ≤ ATCG/ATCG < 27 ≤ ATCG/ATCG < 41 ≤ ATCG/ATCG
Unaligned base: atcg    Masked matching base: atcg    Alignment gap: ‑    Deleted base: ‑