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Always turn off hyphenation; it makes .\" way too many mistakes in technical documents. .if n .ad l .nh .SH "genome music proximity" .IX Header "genome music proximity" .SH "NAME" genome music proximity \- Perform a proximity analysis on a list of mutations. .SH "VERSION" .IX Header "VERSION" This document describes genome music proximity version 0.04 (2018\-07\-05 at 09:17:13) .SH "SYNOPSIS" .IX Header "SYNOPSIS" genome music proximity \-\-maf\-file=? \-\-output\-file=? \-\-output\-dir=? [\-\-max\-proximity=?] [\-\-skip\-non\-coding] [\-\-skip\-silent] .PP .Vb 4 \& ... music proximity \e \& \-\-maf\-file input_dir/myMAF.tsv \e \& \-\-output\-dir output_dir/ \e \& \-\-max\-proximity 15 .Ve .SH "REQUIRED ARGUMENTS" .IX Header "REQUIRED ARGUMENTS" .IP "maf-file \fIText\fR" 4 .IX Item "maf-file Text" List of mutations using \s-1TCGA MAF\s0 specifications v2.3 .IP "output-file \fIText\fR" 4 .IX Item "output-file Text" \&\s-1TODO\s0 .IP "output-dir \fIText\fR" 4 .IX Item "output-dir Text" Directory where output files will be written .SH "OPTIONAL ARGUMENTS" .IX Header "OPTIONAL ARGUMENTS" .IP "max-proximity \fIText\fR" 4 .IX Item "max-proximity Text" Maximum allowed \s-1AA\s0 distance between 2 mutations .Sp Default value '7' if not specified .IP "skip-non-coding \fIBoolean\fR" 4 .IX Item "skip-non-coding Boolean" Skip non-coding mutations from the provided \s-1MAF\s0 file .Sp Default value 'true' if not specified .IP "noskip-non-coding \fIBoolean\fR" 4 .IX Item "noskip-non-coding Boolean" Make skip-non-coding 'false' .IP "skip-silent \fIBoolean\fR" 4 .IX Item "skip-silent Boolean" Skip silent mutations from the provided \s-1MAF\s0 file .Sp Default value 'true' if not specified .IP "noskip-silent \fIBoolean\fR" 4 .IX Item "noskip-silent Boolean" Make skip-silent 'false' .SH "DESCRIPTION" .IX Header "DESCRIPTION" This module first calculates the amino acid position of each mutation in the \s-1MAF\s0 file within its respective transcript. Then, for each mutation, two values are calculated: 1) the number of other mutations on the same transcript within the proximity limit set by the max-proximity input parameter, and 2) the distance to the closest other mutation in this nearby set. Only mutations which have another mutation within close proximity are reported in the output-file. .PP In addition to the standard version 2.3 \s-1MAF\s0 headers, there needs to be 3 columns appended. These column headers in the \s-1MAF\s0 must have these names in the header in order for the tool to find them: transcript_name \- the transcript name, such as \s-1NM_000028\s0 amino_acid_change \- the amino acid change, such as p.R290H c_position \- the nucleotide position changed, such as c.869 .PP The output is generated with the following column headers: Mutations_Within_Proximity, Nearest_Mutation, Gene, Transcript, Affected_Amino_Acid(s), Chr, Start, Stop, Ref_Allele, Var_Allele, Sample .SH "AUTHORS" .IX Header "AUTHORS" .Vb 3 \& Nathan D. Dees, Ph.D. \& Dan Koboldt, M.S. \& Cyriac Kandoth, Ph.D. .Ve