Mazatapec-2-SW

Variants

Changes in the psilocybin genes were found by two independent analysis methods applied to this sample's sequencing reads: aligning the reads to the reference genome, and assembling the genome from them. Each change is labelled with the method that found it, or Both; hover a label for the read counts.

How we found these

Both

In the assembly and in the reads, so confirmed twice.

Reads only

In the reads, not in the assembly. The hover says why where we know: the assembly has the reference base there, does not cover the site, or this sample has no assembly. Many of these are changes carried by only part of the reads; an assembly keeps one base at each position.

Assembly only

In the assembly, but the reads show the reference base there, or too few reads cover the site to say.

Read counts. At every site we count the reads carrying each base (reads with mapping quality of at least 20, bases with quality of at least 13; 8 reads or more to say anything). The change is in most reads at 80% or more, mixed between 20% and 80%, in a minority from 5% to 20% (and at least 2 reads), and essentially absent below that. These counts say what the reads show; they say nothing about how many copies of the gene the sample carries. A change counts as found in the reads when these counts show it (in most, mixed or a minority of reads) or when the lab's variant report lists it. That report lists only changes its gene models rate HIGH or MODERATE, so many changes the reads show are not on it.

Names. Protein changes are named on our curated gene models for the psilocybin cluster. The read-alignment report names them on the public reference's gene models, which in places differ (for example, the public models join psiT1 and psiK into one gene); where the names differ, the hover shows both.

What is listed. Changes that alter the protein (rated HIGH or MODERATE), and every change on the lab's variant report for the cluster. Positions are on chromosome 10 of the reference genome.

psiT1 5 variants — 5 MODERATE

psiT1

MODERATE E121G p.Glu121Gly missense A/G Both

chr10:1663786 55 of 55 reads

psiT1

MODERATE I214L p.Ile214Leu missense A/C Both

chr10:1664184 89 of 89 reads

psiT1

MODERATE T246I p.Thr246Ile missense C/T Both

chr10:1664333 44 of 66 reads

psiT1

MODERATE R266S p.Arg266Ser missense A/T Both

chr10:1664394 29 of 63 reads

psiT1

MODERATE T386A p.Thr386Ala missense A/G Both

chr10:1664803 30 of 77 reads

between psiT1 and psiK 9 variants — 1 HIGH   8 MODERATE

between psiT1 and psiK

MODERATE A>G outside the coding sequence A/G Both

chr10:1665277 35 of 65 reads

between psiT1 and psiK

MODERATE A>G outside the coding sequence A/G Reads only

chr10:1665560 21 of 60 reads

between psiT1 and psiK

MODERATE G>A outside the coding sequence G/A Reads only

chr10:1665570 21 of 60 reads

between psiT1 and psiK

MODERATE A>C outside the coding sequence A/C Reads only

chr10:1665631 22 of 57 reads

between psiT1 and psiK

MODERATE G>A outside the coding sequence G/A Reads only

chr10:1665634 23 of 62 reads

between psiT1 and psiK

MODERATE A>G outside the coding sequence A/G Reads only

chr10:1665658 24 of 52 reads

between psiT1 and psiK

HIGH G>T outside the coding sequence G/T Reads only

chr10:1665665 24 of 53 reads

between psiT1 and psiK

MODERATE G>A outside the coding sequence G/A Both

chr10:1666040 43 of 43 reads

between psiT1 and psiK

MODERATE T>C outside the coding sequence T/C Both

chr10:1666041 45 of 45 reads

psiK 5 variants — 5 MODERATE

psiK

MODERATE S101A p.Ser101Ala missense T/G Reads only

chr10:1666406 36 of 68 reads

psiK

MODERATE L110V p.Leu110Val missense T/G Reads only

chr10:1666433 34 of 66 reads

psiK

MODERATE E167G p.Glu167Gly missense A/G Both

chr10:1666605 37 of 73 reads

psiK

MODERATE R173G p.Arg173Gly missense A/G Both

chr10:1666622 85 of 85 reads

psiK

MODERATE Q279L p.Gln279Leu missense A/T Reads only

chr10:1666941 44 of 95 reads

psiH 2 variants — 2 MODERATE

psiH

MODERATE S7F p.Ser7Phe missense C/T Reads only

chr10:1667530 30 of 67 reads

psiH

MODERATE K236N p.Lys236Asn missense G/T Reads only

chr10:1668429 33 of 81 reads

psiT2 2 variants — 2 MODERATE

psiT2

MODERATE E291Q p.Glu291Gln missense C/G Both

chr10:1671235 47 of 90 reads

psiT2

MODERATE G63D p.Gly63Asp missense C/T Both

chr10:1672192 32 of 65 reads

psiM 1 variant — 1 MODERATE

psiM

MODERATE R102K p.Arg102Lys missense C/T Both

chr10:1674573 66 of 66 reads

psiD 2 variants — 2 MODERATE

psiD

MODERATE G206N p.Gly206Asn missense CC/TT Reads only

chr10:1676885 23 of 58 reads

psiD

MODERATE L22F p.Leu22Phe missense C/A Both

chr10:1677485 60 of 60 reads

Fvcpc2 1 variant — 1 MODERATE

Fvcpc2

MODERATE p.Lys264Gln c.790A>C missense variant & splice region variant A/C

CM038999.1:1973681