--- /dev/null
+#!/usr/bin/perl -w
+
+# Author: lh3
+
+use strict;
+use warnings;
+use Getopt::Std;
+
+&main;
+exit;
+
+sub main {
+ &usage if (@ARGV < 1);
+ my $command = shift(@ARGV);
+ my %func = (subsam=>\&subsam, listsam=>\&listsam, fillac=>\&fillac, qstats=>\&qstats, varFilter=>\&varFilter,
+ hapmap2vcf=>\&hapmap2vcf, ucscsnp2vcf=>\&ucscsnp2vcf, filter4vcf=>\&varFilter, ldstats=>\&ldstats,
+ gapstats=>\&gapstats, splitchr=>\&splitchr);
+ die("Unknown command \"$command\".\n") if (!defined($func{$command}));
+ &{$func{$command}};
+}
+
+sub splitchr {
+ my %opts = (l=>5000000);
+ getopts('l:', \%opts);
+ my $l = $opts{l};
+ die(qq/Usage: vcfutils.pl splitchr [-l $opts{l}] <in.fa.fai>\n/) if (@ARGV == 0 && -t STDIN);
+ while (<>) {
+ my @t = split;
+ my $last = 0;
+ for (my $i = 0; $i < $t[1];) {
+ my $e = ($t[1] - $i) / $l < 1.1? $t[1] : $i + $l;
+ print "$t[0]:".($i+1)."-$e\n";
+ $i = $e;
+ }
+ }
+}
+
+sub subsam {
+ die(qq/Usage: vcfutils.pl subsam <in.vcf> [samples]\n/) if (@ARGV == 0);
+ my ($fh, %h);
+ my $fn = shift(@ARGV);
+ my @col;
+ open($fh, ($fn =~ /\.gz$/)? "gzip -dc $fn |" : $fn) || die;
+ $h{$_} = 1 for (@ARGV);
+ while (<$fh>) {
+ if (/^##/) {
+ print;
+ } elsif (/^#/) {
+ my @t = split;
+ my @s = @t[0..8]; # all fixed fields + FORMAT
+ for (9 .. $#t) {
+ if ($h{$t[$_]}) {
+ push(@s, $t[$_]);
+ push(@col, $_);
+ }
+ }
+ pop(@s) if (@s == 9); # no sample selected; remove the FORMAT field
+ print join("\t", @s), "\n";
+ } else {
+ my @t = split;
+ if (@col == 0) {
+ print join("\t", @t[0..7]), "\n";
+ } else {
+ print join("\t", @t[0..8], map {$t[$_]} @col), "\n";
+ }
+ }
+ }
+ close($fh);
+}
+
+sub listsam {
+ die(qq/Usage: vcfutils.pl listsam <in.vcf>\n/) if (@ARGV == 0 && -t STDIN);
+ while (<>) {
+ if (/^#/ && !/^##/) {
+ my @t = split;
+ print join("\n", @t[9..$#t]), "\n";
+ exit;
+ }
+ }
+}
+
+sub fillac {
+ die(qq/Usage: vcfutils.pl fillac <in.vcf>\n\nNote: The GT field MUST BE present and always appear as the first field.\n/) if (@ARGV == 0 && -t STDIN);
+ while (<>) {
+ if (/^#/) {
+ print;
+ } else {
+ my @t = split;
+ my @c = (0);
+ my $n = 0;
+ my $s = -1;
+ @_ = split(":", $t[8]);
+ for (0 .. $#_) {
+ if ($_[$_] eq 'GT') { $s = $_; last; }
+ }
+ if ($s < 0) {
+ print join("\t", @t), "\n";
+ next;
+ }
+ for (9 .. $#t) {
+ if ($t[$_] =~ /^0,0,0/) {
+ } elsif ($t[$_] =~ /^([^\s:]+:){$s}(\d+).(\d+)/) {
+ ++$c[$2]; ++$c[$3];
+ $n += 2;
+ }
+ }
+ my $AC = "AC=" . join("\t", @c[1..$#c]) . ";AN=$n";
+ my $info = $t[7];
+ $info =~ s/(;?)AC=(\d+)//;
+ $info =~ s/(;?)AN=(\d+)//;
+ if ($info eq '.') {
+ $info = $AC;
+ } else {
+ $info .= ";$AC";
+ }
+ $t[7] = $info;
+ print join("\t", @t), "\n";
+ }
+ }
+}
+
+sub ldstats {
+ my %opts = (t=>0.9);
+ getopts('t:', \%opts);
+ die("Usage: vcfutils.pl ldstats [-t $opts{t}] <in.vcf>\n") if (@ARGV == 0 && -t STDIN);
+ my $cutoff = $opts{t};
+ my ($last, $lastchr) = (0x7fffffff, '');
+ my ($x, $y, $n) = (0, 0, 0);
+ while (<>) {
+ if (/^([^#\s]+)\s(\d+)/) {
+ my ($chr, $pos) = ($1, $2);
+ if (/NEIR=([\d\.]+)/) {
+ ++$n;
+ ++$y, $x += $pos - $last if ($lastchr eq $chr && $pos > $last && $1 > $cutoff);
+ }
+ $last = $pos; $lastchr = $chr;
+ }
+ }
+ print "Number of SNP intervals in strong LD (r > $opts{t}): $y\n";
+ print "Fraction: ", $y/$n, "\n";
+ print "Length: $x\n";
+}
+
+sub qstats {
+ my %opts = (r=>'', s=>0.02, v=>undef);
+ getopts('r:s:v', \%opts);
+ die("Usage: vcfutils.pl qstats [-r ref.vcf] <in.vcf>\n
+Note: This command discards indels. Output: QUAL #non-indel #SNPs #transitions #joint ts/tv #joint/#ref #joint/#non-indel \n") if (@ARGV == 0 && -t STDIN);
+ my %ts = (AG=>1, GA=>1, CT=>1, TC=>1);
+ my %h = ();
+ my $is_vcf = defined($opts{v})? 1 : 0;
+ if ($opts{r}) { # read the reference positions
+ my $fh;
+ open($fh, $opts{r}) || die;
+ while (<$fh>) {
+ next if (/^#/);
+ if ($is_vcf) {
+ my @t = split;
+ $h{$t[0],$t[1]} = $t[4];
+ } else {
+ $h{$1,$2} = 1 if (/^(\S+)\s+(\d+)/);
+ }
+ }
+ close($fh);
+ }
+ my $hsize = scalar(keys %h);
+ my @a;
+ while (<>) {
+ next if (/^#/);
+ my @t = split;
+ next if (length($t[3]) != 1 || uc($t[3]) eq 'N');
+ $t[3] = uc($t[3]); $t[4] = uc($t[4]);
+ my @s = split(',', $t[4]);
+ $t[5] = 3 if ($t[5] eq '.' || $t[5] < 0);
+ next if (length($s[0]) != 1);
+ my $hit;
+ if ($is_vcf) {
+ $hit = 0;
+ my $aa = $h{$t[0],$t[1]};
+ if (defined($aa)) {
+ my @aaa = split(",", $aa);
+ for (@aaa) {
+ $hit = 1 if ($_ eq $s[0]);
+ }
+ }
+ } else {
+ $hit = defined($h{$t[0],$t[1]})? 1 : 0;
+ }
+ push(@a, [$t[5], ($t[4] eq '.' || $t[4] eq $t[3])? 0 : 1, $ts{$t[3].$s[0]}? 1 : 0, $hit]);
+ }
+ push(@a, [-1, 0, 0, 0]); # end marker
+ die("[qstats] No SNP data!\n") if (@a == 0);
+ @a = sort {$b->[0]<=>$a->[0]} @a;
+ my $next = $opts{s};
+ my $last = $a[0];
+ my @c = (0, 0, 0, 0);
+ my @lc;
+ $lc[1] = $lc[2] = 0;
+ for my $p (@a) {
+ if ($p->[0] == -1 || ($p->[0] != $last && $c[0]/@a > $next)) {
+ my @x;
+ $x[0] = sprintf("%.4f", $c[1]-$c[2]? $c[2] / ($c[1] - $c[2]) : 100);
+ $x[1] = sprintf("%.4f", $hsize? $c[3] / $hsize : 0);
+ $x[2] = sprintf("%.4f", $c[3] / $c[1]);
+ my $a = $c[1] - $lc[1];
+ my $b = $c[2] - $lc[2];
+ $x[3] = sprintf("%.4f", $a-$b? $b / ($a-$b) : 100);
+ print join("\t", $last, @c, @x), "\n";
+ $next = $c[0]/@a + $opts{s};
+ $lc[1] = $c[1]; $lc[2] = $c[2];
+ }
+ ++$c[0]; $c[1] += $p->[1]; $c[2] += $p->[2]; $c[3] += $p->[3];
+ $last = $p->[0];
+ }
+}
+
+sub varFilter {
+ my %opts = (d=>2, D=>10000, a=>2, W=>10, Q=>10, w=>10, p=>undef, 1=>1e-4, 2=>1e-100, 3=>0, 4=>1e-4);
+ getopts('pd:D:W:Q:w:a:1:2:3:4:', \%opts);
+ die(qq/
+Usage: vcfutils.pl varFilter [options] <in.vcf>
+
+Options: -Q INT minimum RMS mapping quality for SNPs [$opts{Q}]
+ -d INT minimum read depth [$opts{d}]
+ -D INT maximum read depth [$opts{D}]
+ -a INT minimum number of alternate bases [$opts{a}]
+ -w INT SNP within INT bp around a gap to be filtered [$opts{w}]
+ -W INT window size for filtering adjacent gaps [$opts{W}]
+ -1 FLOAT min P-value for strand bias (given PV4) [$opts{1}]
+ -2 FLOAT min P-value for baseQ bias [$opts{2}]
+ -3 FLOAT min P-value for mapQ bias [$opts{3}]
+ -4 FLOAT min P-value for end distance bias [$opts{4}]
+ -p print filtered variants
+
+Note: Some of the filters rely on annotations generated by SAMtools\/BCFtools.
+\n/) if (@ARGV == 0 && -t STDIN);
+
+ # calculate the window size
+ my ($ol, $ow) = ($opts{W}, $opts{w});
+ my $max_dist = $ol > $ow? $ol : $ow;
+ # the core loop
+ my @staging; # (indel_filtering_score, flt_tag, indel_span; chr, pos, ...)
+ while (<>) {
+ my @t = split;
+ if (/^#/) {
+ print; next;
+ }
+ next if ($t[4] eq '.'); # skip non-var sites
+ # check if the site is a SNP
+ my $type = 1; # SNP
+ if (length($t[3]) > 1) {
+ $type = 2; # MNP
+ my @s = split(',', $t[4]);
+ for (@s) {
+ $type = 3 if (length != length($t[3]));
+ }
+ } else {
+ my @s = split(',', $t[4]);
+ for (@s) {
+ $type = 3 if (length > 1);
+ }
+ }
+ # clear the out-of-range elements
+ while (@staging) {
+ # Still on the same chromosome and the first element's window still affects this position?
+ last if ($staging[0][3] eq $t[0] && $staging[0][4] + $staging[0][2] + $max_dist >= $t[1]);
+ varFilter_aux(shift(@staging), $opts{p}); # calling a function is a bit slower, not much
+ }
+ my $flt = 0;
+ # parse annotations
+ my ($dp, $mq, $dp_alt) = (-1, -1, -1);
+ if ($t[7] =~ /DP4=(\d+),(\d+),(\d+),(\d+)/i) {
+ $dp = $1 + $2 + $3 + $4;
+ $dp_alt = $3 + $4;
+ }
+ if ($t[7] =~ /DP=(\d+)/i) {
+ $dp = $1;
+ }
+ $mq = $1 if ($t[7] =~ /MQ=(\d+)/i);
+ # the depth and mapQ filter
+ if ($dp >= 0) {
+ if ($dp < $opts{d}) {
+ $flt = 2;
+ } elsif ($dp > $opts{D}) {
+ $flt = 3;
+ }
+ }
+ $flt = 4 if ($dp_alt >= 0 && $dp_alt < $opts{a});
+ $flt = 1 if ($flt == 0 && $mq >= 0 && $mq < $opts{Q});
+ $flt = 7 if ($flt == 0 && /PV4=([^,]+),([^,]+),([^,]+),([^,;\t]+)/
+ && ($1<$opts{1} || $2<$opts{2} || $3<$opts{3} || $4<$opts{4}));
+
+ my $score = $t[5] * 100 + $dp_alt;
+ my $rlen = length($t[3]) - 1; # $indel_score<0 for SNPs
+ if ($flt == 0) {
+ if ($type == 3) { # an indel
+ # filtering SNPs and MNPs
+ for my $x (@staging) {
+ next if (($x->[0]&3) == 3 || $x->[1] || $x->[4] + $x->[2] + $ow < $t[1]);
+ $x->[1] = 5;
+ }
+ # check the staging list for indel filtering
+ for my $x (@staging) {
+ next if (($x->[0]&3) != 3 || $x->[1] || $x->[4] + $x->[2] + $ol < $t[1]);
+ if ($x->[0]>>2 < $score) {
+ $x->[1] = 6;
+ } else {
+ $flt = 6; last;
+ }
+ }
+ } else { # SNP or MNP
+ for my $x (@staging) {
+ next if (($x->[0]&3) != 3 || $x->[4] + $x->[2] + $ow < $t[1]);
+ $flt = 5;
+ last;
+ }
+ # check MNP
+ for my $x (@staging) {
+ next if (($x->[0]&3) == 3 || $x->[4] + $x->[2] < $t[1]);
+ if ($x->[0]>>2 < $score) {
+ $x->[1] = 8;
+ } else {
+ $flt = 8; last;
+ }
+ }
+ }
+ }
+ push(@staging, [$score<<2|$type, $flt, $rlen, @t]);
+ }
+ # output the last few elements in the staging list
+ while (@staging) {
+ varFilter_aux(shift @staging, $opts{p});
+ }
+}
+
+sub varFilter_aux {
+ my ($first, $is_print) = @_;
+ if ($first->[1] == 0) {
+ print join("\t", @$first[3 .. @$first-1]), "\n";
+ } elsif ($is_print) {
+ print STDERR join("\t", substr("UQdDaGgPM", $first->[1], 1), @$first[3 .. @$first-1]), "\n";
+ }
+}
+
+sub gapstats {
+ my (@c0, @c1);
+ $c0[$_] = $c1[$_] = 0 for (0 .. 10000);
+ while (<>) {
+ next if (/^#/);
+ my @t = split;
+ next if (length($t[3]) == 1 && $t[4] =~ /^[A-Za-z](,[A-Za-z])*$/); # not an indel
+ my @s = split(',', $t[4]);
+ for my $x (@s) {
+ my $l = length($x) - length($t[3]) + 5000;
+ if ($x =~ /^-/) {
+ $l = -(length($x) - 1) + 5000;
+ } elsif ($x =~ /^\+/) {
+ $l = length($x) - 1 + 5000;
+ }
+ $c0[$l] += 1 / @s;
+ }
+ }
+ for (my $i = 0; $i < 10000; ++$i) {
+ next if ($c0[$i] == 0);
+ $c1[0] += $c0[$i];
+ $c1[1] += $c0[$i] if (($i-5000)%3 == 0);
+ printf("C\t%d\t%.2f\n", ($i-5000), $c0[$i]);
+ }
+ printf("3\t%d\t%d\t%.3f\n", $c1[0], $c1[1], $c1[1]/$c1[0]);
+}
+
+sub ucscsnp2vcf {
+ die("Usage: vcfutils.pl <in.ucsc.snp>\n") if (@ARGV == 0 && -t STDIN);
+ print "##fileformat=VCFv4.0\n";
+ print join("\t", "#CHROM\tPOS\tID\tREF\tALT\tQUAL\tFILTER\tINFO"), "\n";
+ while (<>) {
+ my @t = split("\t");
+ my $indel = ($t[9] =~ /^[ACGT](\/[ACGT])+$/)? 0 : 1;
+ my $pos = $t[2] + 1;
+ my @alt;
+ push(@alt, $t[7]);
+ if ($t[6] eq '-') {
+ $t[9] = reverse($t[9]);
+ $t[9] =~ tr/ACGTRYMKWSNacgtrymkwsn/TGCAYRKMWSNtgcayrkmwsn/;
+ }
+ my @a = split("/", $t[9]);
+ for (@a) {
+ push(@alt, $_) if ($_ ne $alt[0]);
+ }
+ if ($indel) {
+ --$pos;
+ for (0 .. $#alt) {
+ $alt[$_] =~ tr/-//d;
+ $alt[$_] = "N$alt[$_]";
+ }
+ }
+ my $ref = shift(@alt);
+ my $af = $t[13] > 0? ";AF=$t[13]" : '';
+ my $valid = ($t[12] eq 'unknown')? '' : ";valid=$t[12]";
+ my $info = "molType=$t[10];class=$t[11]$valid$af";
+ print join("\t", $t[1], $pos, $t[4], $ref, join(",", @alt), 0, '.', $info), "\n";
+ }
+}
+
+sub hapmap2vcf {
+ die("Usage: vcfutils.pl <in.ucsc.snp> <in.hapmap>\n") if (@ARGV == 0);
+ my $fn = shift(@ARGV);
+ # parse UCSC SNP
+ warn("Parsing UCSC SNPs...\n");
+ my ($fh, %map);
+ open($fh, ($fn =~ /\.gz$/)? "gzip -dc $fn |" : $fn) || die;
+ while (<$fh>) {
+ my @t = split;
+ next if ($t[3] - $t[2] != 1); # not SNP
+ @{$map{$t[4]}} = @t[1,3,7];
+ }
+ close($fh);
+ # write VCF
+ warn("Writing VCF...\n");
+ print "##fileformat=VCFv4.0\n";
+ while (<>) {
+ my @t = split;
+ if ($t[0] eq 'rs#') { # the first line
+ print join("\t", "#CHROM\tPOS\tID\tREF\tALT\tQUAL\tFILTER\tINFO\tFORMAT", @t[11..$#t]), "\n";
+ } else {
+ next unless ($map{$t[0]});
+ next if (length($t[1]) != 3); # skip non-SNPs
+ my $a = \@{$map{$t[0]}};
+ my $ref = $a->[2];
+ my @u = split('/', $t[1]);
+ if ($u[1] eq $ref) {
+ $u[1] = $u[0]; $u[0] = $ref;
+ } elsif ($u[0] ne $ref) { next; }
+ my $alt = $u[1];
+ my %w;
+ $w{$u[0]} = 0; $w{$u[1]} = 1;
+ my @s = (@$a[0,1], $t[0], $ref, $alt, 0, '.', '.', 'GT');
+ my $is_tri = 0;
+ for (@t[11..$#t]) {
+ if ($_ eq 'NN') {
+ push(@s, './.');
+ } else {
+ my @a = ($w{substr($_,0,1)}, $w{substr($_,1,1)});
+ if (!defined($a[0]) || !defined($a[1])) {
+ $is_tri = 1;
+ last;
+ }
+ push(@s, "$a[0]/$a[1]");
+ }
+ }
+ next if ($is_tri);
+ print join("\t", @s), "\n";
+ }
+ }
+}
+
+sub usage {
+ die(qq/
+Usage: vcfutils.pl <command> [<arguments>]\n
+Command: subsam get a subset of samples
+ listsam list the samples
+ fillac fill the allele count field
+ qstats SNP stats stratified by QUAL
+ varFilter filtering short variants
+ hapmap2vcf convert the hapmap format to VCF
+ ucscsnp2vcf convert UCSC SNP SQL dump to VCF
+\n/);
+}
projects / rsem.git / blobdiff