# HG changeset patch # User stef # Date 1424872256 18000 # Node ID 73eda23fb8fd96cb3fa2f5eb41b05a3452250c72 # Parent e7de191375e6ffd980ca2ca414b702fe6da567d4 Uploaded diff -r e7de191375e6 -r 73eda23fb8fd falco-call.sh --- a/falco-call.sh Thu Jan 08 06:18:04 2015 -0500 +++ b/falco-call.sh Wed Feb 25 08:50:56 2015 -0500 @@ -65,6 +65,8 @@ ## running analysis ## ---------- echo "[INFO] Starting variant calling" +## NOTE: if $FILTER_PARAM is set it includes the param name (--filter) +## NOTE: if $MANIFEST_PARAM is set it includes the param name (--manifest) CALL_STRING="$TOOLDIR/falco/bin/falco --bam $bam_file --output $bam_base --ref $REF_FILE $FILTER_PARAM $MANIFEST_PARAM" echo "[INFO] "$CALL_STRING perl $CALL_STRING @@ -105,6 +107,9 @@ #cp 'index.html' $html_out # this is the overview of samples html #cp $bam_base'.html' $out_path/'out.html' # this is the sample html cp $bam_base'.falco.vcf' $vcf_out +cp $bam_base'.qc.ann.qual.txt' $qc_ann_qual_out +cp $bam_base'.qc2.ann.txt' $qc2_ann_txt_out +cp $bam_base'.qc.targets.txt' $qc_targets_txt_out ## ---------- ## copy files to keep to output path diff -r e7de191375e6 -r 73eda23fb8fd falco-call.xml --- a/falco-call.xml Thu Jan 08 06:18:04 2015 -0500 +++ b/falco-call.xml Wed Feb 25 08:50:56 2015 -0500 @@ -66,6 +66,10 @@ bam_name=$bam.name html_out=$html_output vcf_out=$vcf_output + qc_ann_qual_out=$qc_ann_qual_output + qc2_ann_txt_out=$qc2_ann_txt_output + qc_targets_txt_out=$qc_targets_txt_output + out_path=${html_output.files_path} job_name=$jobName ## reference source @@ -87,6 +91,9 @@ + + + diff -r e7de191375e6 -r 73eda23fb8fd falco-filter-report.sh --- /dev/null Thu Jan 01 00:00:00 1970 +0000 +++ b/falco-filter-report.sh Wed Feb 25 08:50:56 2015 -0500 @@ -0,0 +1,117 @@ +#!/bin/bash +TOOLDIR="$( cd "$( dirname "${BASH_SOURCE[0]}" )" && pwd )" + +echo "Started FALCO calling" + +## ---------- +## Variables setup ($1 contains the bash config file path) +## ---------- +source $1 + +## ---------- +## make sure all is ok +## ---------- +#if [ ! -f $REF_FILE".fai" ] +#then +# echo "No FAI index (fai) found for reference fasta [$REF_FILE]" +# exit "No FAI index (fai) found for reference fasta [$REF_FILE]" +#fi + +## ---------- +## set params +## ---------- +if [[ $filter_file != 'None' && $filter_file != '' ]] # Galaxy default is "None" for some reason +then + FILTER_PARAM=" --filter "$filter_file +else + FILTER_PARAM="" +fi + +if [[ $manifest_file != 'None' && $manifest_file != 'None' ]] # Galaxy default is "None" for some reason +then + MANIFEST_PARAM=" --manifest "$manifest_file +else + MANIFEST_PARAM="" +fi + +## name of file in galaxy not always set so will use a user-set job_name instead +#bam_base=`echo $bam_name | sed 's#.bam$##' - ` +vcf_base=$job_name + +## ---------- +## Status / debug +## ---------- +DEBUG=1 +if [ $DEBUG ] +then + DBS="[INFO] " + echo $DBS"FILTER: "$filter_file + echo $DBS"MANIFEST: "$manifest_file + echo $DBS"REF FILE: "$REF_FILE + echo $DBS"DB KEY: "$DB_KEY + echo $DBS"REF SRC: "$REF_SOURCE + echo $DBS"BAM FILE: "$bam_file + echo $DBS"BAM NAME: "$bam_name + echo $DBS"BAM BASE: "$bam_base + echo $DBS"OUT PATH: "$out_path +fi + +## ---------- +## create output files dir +## ---------- +mkdir $out_path + +## ---------- +## running analysis +## ---------- +echo "[INFO] Starting FALCO reporting" +CMD_STRING="$TOOLDIR/falco/bin/falco-filter-report --vcf $vcf_file --output $vcf_base --qc_ann_qual_txt $qc_ann_qual_file --qc2_ann_txt $qc2_ann_txt_file --qc_targets_txt $qc_targets_txt_file" +echo "[INFO] "$CMD_STRING +perl $CMD_STRING +echo "[INFO] done with FALCO reporting" + + +## ---------- +## create index html for main galaxy output +## ---------- +echo "" >> $html_out +echo "" >> $html_out +echo "" >> $html_out +echo "" >> $html_out +echo "" >> $html_out +echo "" >> $html_out +echo "

FALCO

" >> $html_out +echo "

This page is way to get output files that are not implemented in galaxy history, it is not intended to be a user-friendly way of displaying anything ;)

" >> $html_out +#echo " HTML" >> $html_out +echo " " >> $html_out +for file in *.vcf *.txt *stderr *stdout +#for file in * +do + lineCount=`wc -l $file | cut -f 1 -d " "` + echo " " >> $html_out + echo " " >> $html_out +done +echo "

$file has $lineCount lines

--> " `head -1 $file` "

" >> $html_out +echo "" >> $html_out +echo "" >> $html_out + +## ---------- +## creating galaxy history outputs +## ---------- +cp 'index.html' $html_out # this is the overview of samples html +#cp $bam_base'.html' $out_path/'out.html' # this is the sample html + +## ---------- +## copy files to keep to output path +## ---------- +#cp -r ./$bam_base/*png $out_path/$bam_base/ +#cp -r ./* $out_path +cp *.vcf $out_path; cp *.txt $out_path; cp *_std* $out_path + +## ---------- +echo "END falco sh" +exit 0 diff -r e7de191375e6 -r 73eda23fb8fd falco-filter-report.xml --- /dev/null Thu Jan 01 00:00:00 1970 +0000 +++ b/falco-filter-report.xml Wed Feb 25 08:50:56 2015 -0500 @@ -0,0 +1,128 @@ + + + + + samtools + R + + + + FALCO Report: Amplicon Analysis Pipeline + + + falco-filter-report.sh $falco_cfg; + + + + + + + + + + + + + + + + \S+ + + + + + + + + + + + + + + + + + + + + filter_file=$filter_file + manifest_file=$manifest_file + vcf_file=$vcf + vcf_file2=$vcf2 + + qc_ann_qual_file=$qc_ann_qual + qc2_ann_txt_file=$qc2_ann_txt + qc_targets_txt_file=$qc_targets_txt + + vcf_name=$vcf.name + html_out=$html_output + out_path=${html_output.files_path} + job_name=$jobName + + + + + + + + + + + + + + + + + + + +.. class:: infomark + +**Introduction** + +This tool is a wrapper for the variant caller FALCO_ which is part of the Amplicon Analysis Pipeline (AAP) + +.. _FALCO: https://github.com/tgac-vumc/falco/ + +Calls and annotates genomic variants for each amplicon in a design. + +**Notes** + +Because each amplicon is considered separate test, if two amplicons overlap this can cause the same variant position to be present twice in the output VCF. This is intentional, you can use this to evaluate the quality of the variant call beyond the amplicon. + +----- + +**Citation** + +For the underlying tool please cite: Daoud Sie et al. Performance of amplicon-based next generation DNA sequencing for diagnostic gene mutation profiling in oncopathology (Cell Oncol 2014 Oct;37(5):353-61). [Pubmed] + +.. _Pubmed: http://www.ncbi.nlm.nih.gov/pubmed/25209392 + + + + diff -r e7de191375e6 -r 73eda23fb8fd falco/.git/COMMIT_EDITMSG --- /dev/null Thu Jan 01 00:00:00 1970 +0000 +++ b/falco/.git/COMMIT_EDITMSG Wed Feb 25 08:50:56 2015 -0500 @@ -0,0 +1,1 @@ +cosmic coding filter file diff -r e7de191375e6 -r 73eda23fb8fd falco/.git/FETCH_HEAD --- /dev/null Thu Jan 01 00:00:00 1970 +0000 +++ b/falco/.git/FETCH_HEAD Wed Feb 25 08:50:56 2015 -0500 @@ -0,0 +1,1 @@ +3ee7eebff84455cd50c4bcf0fe0184c5f0ccaaf0 branch 'master' of https://github.com/tgac-vumc/falco diff -r e7de191375e6 -r 73eda23fb8fd falco/.git/HEAD --- /dev/null Thu Jan 01 00:00:00 1970 +0000 +++ b/falco/.git/HEAD Wed Feb 25 08:50:56 2015 -0500 @@ -0,0 +1,1 @@ +ref: refs/heads/master diff -r e7de191375e6 -r 73eda23fb8fd falco/.git/ORIG_HEAD --- /dev/null Thu Jan 01 00:00:00 1970 +0000 +++ b/falco/.git/ORIG_HEAD Wed Feb 25 08:50:56 2015 -0500 @@ -0,0 +1,1 @@ +b65bea4880f8250609838d0f7988378393ce98a0 diff -r e7de191375e6 -r 73eda23fb8fd falco/.git/config --- /dev/null Thu Jan 01 00:00:00 1970 +0000 +++ b/falco/.git/config Wed Feb 25 08:50:56 2015 -0500 @@ -0,0 +1,11 @@ +[core] + repositoryformatversion = 0 + filemode = true + bare = false + logallrefupdates = true +[remote "origin"] + url = https://github.com/tgac-vumc/falco.git + fetch = +refs/heads/*:refs/remotes/origin/* +[branch "master"] + remote = origin + merge = refs/heads/master diff -r e7de191375e6 -r 73eda23fb8fd falco/.git/description --- /dev/null Thu Jan 01 00:00:00 1970 +0000 +++ b/falco/.git/description Wed Feb 25 08:50:56 2015 -0500 @@ -0,0 +1,1 @@ +Unnamed repository; edit this file 'description' to name the repository. diff -r e7de191375e6 -r 73eda23fb8fd falco/.git/hooks/applypatch-msg.sample --- /dev/null Thu Jan 01 00:00:00 1970 +0000 +++ b/falco/.git/hooks/applypatch-msg.sample Wed Feb 25 08:50:56 2015 -0500 @@ -0,0 +1,15 @@ +#!/bin/sh +# +# An example hook script to check the commit log message taken by +# applypatch from an e-mail message. +# +# The hook should exit with non-zero status after issuing an +# appropriate message if it wants to stop the commit. The hook is +# allowed to edit the commit message file. +# +# To enable this hook, rename this file to "applypatch-msg". + +. git-sh-setup +test -x "$GIT_DIR/hooks/commit-msg" && + exec "$GIT_DIR/hooks/commit-msg" ${1+"$@"} +: diff -r e7de191375e6 -r 73eda23fb8fd falco/.git/hooks/commit-msg.sample --- /dev/null Thu Jan 01 00:00:00 1970 +0000 +++ b/falco/.git/hooks/commit-msg.sample Wed Feb 25 08:50:56 2015 -0500 @@ -0,0 +1,24 @@ +#!/bin/sh +# +# An example hook script to check the commit log message. +# Called by "git commit" with one argument, the name of the file +# that has the commit message. The hook should exit with non-zero +# status after issuing an appropriate message if it wants to stop the +# commit. The hook is allowed to edit the commit message file. +# +# To enable this hook, rename this file to "commit-msg". + +# Uncomment the below to add a Signed-off-by line to the message. +# Doing this in a hook is a bad idea in general, but the prepare-commit-msg +# hook is more suited to it. +# +# SOB=$(git var GIT_AUTHOR_IDENT | sed -n 's/^$.*>$.*$/Signed-off-by: \1/p') +# grep -qs "^$SOB" "$1" || echo "$SOB" >> "$1" + +# This example catches duplicate Signed-off-by lines. + +test "" = "$(grep '^Signed-off-by: ' "$1" | + sort | uniq -c | sed -e '/^[ ]*1[ ]/d')" || { + echo >&2 Duplicate Signed-off-by lines. + exit 1 +} diff -r e7de191375e6 -r 73eda23fb8fd falco/.git/hooks/post-update.sample --- /dev/null Thu Jan 01 00:00:00 1970 +0000 +++ b/falco/.git/hooks/post-update.sample Wed Feb 25 08:50:56 2015 -0500 @@ -0,0 +1,8 @@ +#!/bin/sh +# +# An example hook script to prepare a packed repository for use over +# dumb transports. +# +# To enable this hook, rename this file to "post-update". + +exec git update-server-info diff -r e7de191375e6 -r 73eda23fb8fd falco/.git/hooks/pre-applypatch.sample --- /dev/null Thu Jan 01 00:00:00 1970 +0000 +++ b/falco/.git/hooks/pre-applypatch.sample Wed Feb 25 08:50:56 2015 -0500 @@ -0,0 +1,14 @@ +#!/bin/sh +# +# An example hook script to verify what is about to be committed +# by applypatch from an e-mail message. +# +# The hook should exit with non-zero status after issuing an +# appropriate message if it wants to stop the commit. +# +# To enable this hook, rename this file to "pre-applypatch". + +. git-sh-setup +test -x "$GIT_DIR/hooks/pre-commit" && + exec "$GIT_DIR/hooks/pre-commit" ${1+"$@"} +: diff -r e7de191375e6 -r 73eda23fb8fd falco/.git/hooks/pre-commit.sample --- /dev/null Thu Jan 01 00:00:00 1970 +0000 +++ b/falco/.git/hooks/pre-commit.sample Wed Feb 25 08:50:56 2015 -0500 @@ -0,0 +1,49 @@ +#!/bin/sh +# +# An example hook script to verify what is about to be committed. +# Called by "git commit" with no arguments. The hook should +# exit with non-zero status after issuing an appropriate message if +# it wants to stop the commit. +# +# To enable this hook, rename this file to "pre-commit". + +if git rev-parse --verify HEAD >/dev/null 2>&1 +then + against=HEAD +else + # Initial commit: diff against an empty tree object + against=4b825dc642cb6eb9a060e54bf8d69288fbee4904 +fi + +# If you want to allow non-ASCII filenames set this variable to true. +allownonascii=$(git config --bool hooks.allownonascii) + +# Redirect output to stderr. +exec 1>&2 + +# Cross platform projects tend to avoid non-ASCII filenames; prevent +# them from being added to the repository. We exploit the fact that the +# printable range starts at the space character and ends with tilde. +if [ "$allownonascii" != "true" ] && + # Note that the use of brackets around a tr range is ok here, (it's + # even required, for portability to Solaris 10's /usr/bin/tr), since + # the square bracket bytes happen to fall in the designated range. + test $(git diff --cached --name-only --diff-filter=A -z $against | + LC_ALL=C tr -d '[ -~]\0' | wc -c) != 0 +then + cat <<\EOF +Error: Attempt to add a non-ASCII file name. + +This can cause problems if you want to work with people on other platforms. + +To be portable it is advisable to rename the file. + +If you know what you are doing you can disable this check using: + + git config hooks.allownonascii true +EOF + exit 1 +fi + +# If there are whitespace errors, print the offending file names and fail. +exec git diff-index --check --cached $against -- diff -r e7de191375e6 -r 73eda23fb8fd falco/.git/hooks/pre-push.sample --- /dev/null Thu Jan 01 00:00:00 1970 +0000 +++ b/falco/.git/hooks/pre-push.sample Wed Feb 25 08:50:56 2015 -0500 @@ -0,0 +1,54 @@ +#!/bin/sh + +# An example hook script to verify what is about to be pushed. Called by "git +# push" after it has checked the remote status, but before anything has been +# pushed. If this script exits with a non-zero status nothing will be pushed. +# +# This hook is called with the following parameters: +# +# $1 -- Name of the remote to which the push is being done +# $2 -- URL to which the push is being done +# +# If pushing without using a named remote those arguments will be equal. +# +# Information about the commits which are being pushed is supplied as lines to +# the standard input in the form: +# +# +# +# This sample shows how to prevent push of commits where the log message starts +# with "WIP" (work in progress). + +remote="$1" +url="$2" + +z40=0000000000000000000000000000000000000000 + +IFS=' ' +while read local_ref local_sha remote_ref remote_sha +do + if [ "$local_sha" = $z40 ] + then + # Handle delete + : + else + if [ "$remote_sha" = $z40 ] + then + # New branch, examine all commits + range="$local_sha" + else + # Update to existing branch, examine new commits + range="$remote_sha..$local_sha" + fi + + # Check for WIP commit + commit=`git rev-list -n 1 --grep '^WIP' "$range"` + if [ -n "$commit" ] + then + echo "Found WIP commit in $local_ref, not pushing" + exit 1 + fi + fi +done + +exit 0 diff -r e7de191375e6 -r 73eda23fb8fd falco/.git/hooks/pre-rebase.sample --- /dev/null Thu Jan 01 00:00:00 1970 +0000 +++ b/falco/.git/hooks/pre-rebase.sample Wed Feb 25 08:50:56 2015 -0500 @@ -0,0 +1,169 @@ +#!/bin/sh +# +# Copyright (c) 2006, 2008 Junio C Hamano +# +# The "pre-rebase" hook is run just before "git rebase" starts doing +# its job, and can prevent the command from running by exiting with +# non-zero status. +# +# The hook is called with the following parameters: +# +# $1 -- the upstream the series was forked from. +# $2 -- the branch being rebased (or empty when rebasing the current branch). +# +# This sample shows how to prevent topic branches that are already +# merged to 'next' branch from getting rebased, because allowing it +# would result in rebasing already published history. + +publish=next +basebranch="$1" +if test "$#" = 2 +then + topic="refs/heads/$2" +else + topic=`git symbolic-ref HEAD` || + exit 0 ;# we do not interrupt rebasing detached HEAD +fi + +case "$topic" in +refs/heads/??/*) + ;; +*) + exit 0 ;# we do not interrupt others. + ;; +esac + +# Now we are dealing with a topic branch being rebased +# on top of master. Is it OK to rebase it? + +# Does the topic really exist? +git show-ref -q "$topic" || { + echo >&2 "No such branch $topic" + exit 1 +} + +# Is topic fully merged to master? +not_in_master=`git rev-list --pretty=oneline ^master "$topic"` +if test -z "$not_in_master" +then + echo >&2 "$topic is fully merged to master; better remove it." + exit 1 ;# we could allow it, but there is no point. +fi + +# Is topic ever merged to next? If so you should not be rebasing it. +only_next_1=`git rev-list ^master "^$topic" ${publish} | sort` +only_next_2=`git rev-list ^master ${publish} | sort` +if test "$only_next_1" = "$only_next_2" +then + not_in_topic=`git rev-list "^$topic" master` + if test -z "$not_in_topic" + then + echo >&2 "$topic is already up-to-date with master" + exit 1 ;# we could allow it, but there is no point. + else + exit 0 + fi +else + not_in_next=`git rev-list --pretty=oneline ^${publish} "$topic"` + /usr/bin/perl -e ' + my $topic = $ARGV[0]; + my $msg = "* $topic has commits already merged to public branch:\n"; + my (%not_in_next) = map { + /^([0-9a-f]+) /; + ($1 => 1); + } split(/\n/, $ARGV[1]); + for my $elem (map { + /^([0-9a-f]+) (.*)$/; + [$1 => $2]; + } split(/\n/, $ARGV[2])) { + if (!exists $not_in_next{$elem->[0]}) { + if ($msg) { + print STDERR $msg; + undef $msg; + } + print STDERR " $elem->[1]\n"; + } + } + ' "$topic" "$not_in_next" "$not_in_master" + exit 1 +fi + +<<\DOC_END + +This sample hook safeguards topic branches that have been +published from being rewound. + +The workflow assumed here is: + + * Once a topic branch forks from "master", "master" is never + merged into it again (either directly or indirectly). + + * Once a topic branch is fully cooked and merged into "master", + it is deleted. If you need to build on top of it to correct + earlier mistakes, a new topic branch is created by forking at + the tip of the "master". This is not strictly necessary, but + it makes it easier to keep your history simple. + + * Whenever you need to test or publish your changes to topic + branches, merge them into "next" branch. + +The script, being an example, hardcodes the publish branch name +to be "next", but it is trivial to make it configurable via +$GIT_DIR/config mechanism. + +With this workflow, you would want to know: + +(1) ... if a topic branch has ever been merged to "next". Young + topic branches can have stupid mistakes you would rather + clean up before publishing, and things that have not been + merged into other branches can be easily rebased without + affecting other people. But once it is published, you would + not want to rewind it. + +(2) ... if a topic branch has been fully merged to "master". + Then you can delete it. More importantly, you should not + build on top of it -- other people may already want to + change things related to the topic as patches against your + "master", so if you need further changes, it is better to + fork the topic (perhaps with the same name) afresh from the + tip of "master". + +Let's look at this example: + + o---o---o---o---o---o---o---o---o---o "next" + / / / / + / a---a---b A / / + / / / / + / / c---c---c---c B / + / / / \ / + / / / b---b C \ / + / / / / \ / + ---o---o---o---o---o---o---o---o---o---o---o "master" + + +A, B and C are topic branches. + + * A has one fix since it was merged up to "next". + + * B has finished. It has been fully merged up to "master" and "next", + and is ready to be deleted. + + * C has not merged to "next" at all. + +We would want to allow C to be rebased, refuse A, and encourage +B to be deleted. + +To compute (1): + + git rev-list ^master ^topic next + git rev-list ^master next + + if these match, topic has not merged in next at all. + +To compute (2): + + git rev-list master..topic + + if this is empty, it is fully merged to "master". + +DOC_END diff -r e7de191375e6 -r 73eda23fb8fd falco/.git/hooks/prepare-commit-msg.sample --- /dev/null Thu Jan 01 00:00:00 1970 +0000 +++ b/falco/.git/hooks/prepare-commit-msg.sample Wed Feb 25 08:50:56 2015 -0500 @@ -0,0 +1,36 @@ +#!/bin/sh +# +# An example hook script to prepare the commit log message. +# Called by "git commit" with the name of the file that has the +# commit message, followed by the description of the commit +# message's source. The hook's purpose is to edit the commit +# message file. If the hook fails with a non-zero status, +# the commit is aborted. +# +# To enable this hook, rename this file to "prepare-commit-msg". + +# This hook includes three examples. The first comments out the +# "Conflicts:" part of a merge commit. +# +# The second includes the output of "git diff --name-status -r" +# into the message, just before the "git status" output. It is +# commented because it doesn't cope with --amend or with squashed +# commits. +# +# The third example adds a Signed-off-by line to the message, that can +# still be edited. This is rarely a good idea. + +case "$2,$3" in + merge,) + /usr/bin/perl -i.bak -ne 's/^/# /, s/^# #/#/ if /^Conflicts/ .. /#/; print' "$1" ;; + +# ,|template,) +# /usr/bin/perl -i.bak -pe ' +# print "\n" . `git diff --cached --name-status -r` +# if /^#/ && $first++ == 0' "$1" ;; + + *) ;; +esac + +# SOB=$(git var GIT_AUTHOR_IDENT | sed -n 's/^$.*>$.*$/Signed-off-by: \1/p') +# grep -qs "^$SOB" "$1" || echo "$SOB" >> "$1" diff -r e7de191375e6 -r 73eda23fb8fd falco/.git/hooks/update.sample --- /dev/null Thu Jan 01 00:00:00 1970 +0000 +++ b/falco/.git/hooks/update.sample Wed Feb 25 08:50:56 2015 -0500 @@ -0,0 +1,128 @@ +#!/bin/sh +# +# An example hook script to blocks unannotated tags from entering. +# Called by "git receive-pack" with arguments: refname sha1-old sha1-new +# +# To enable this hook, rename this file to "update". +# +# Config +# ------ +# hooks.allowunannotated +# This boolean sets whether unannotated tags will be allowed into the +# repository. By default they won't be. +# hooks.allowdeletetag +# This boolean sets whether deleting tags will be allowed in the +# repository. By default they won't be. +# hooks.allowmodifytag +# This boolean sets whether a tag may be modified after creation. By default +# it won't be. +# hooks.allowdeletebranch +# This boolean sets whether deleting branches will be allowed in the +# repository. By default they won't be. +# hooks.denycreatebranch +# This boolean sets whether remotely creating branches will be denied +# in the repository. By default this is allowed. +# + +# --- Command line +refname="$1" +oldrev="$2" +newrev="$3" + +# --- Safety check +if [ -z "$GIT_DIR" ]; then + echo "Don't run this script from the command line." >&2 + echo " (if you want, you could supply GIT_DIR then run" >&2 + echo " $0 )" >&2 + exit 1 +fi + +if [ -z "$refname" -o -z "$oldrev" -o -z "$newrev" ]; then + echo "usage: $0 " >&2 + exit 1 +fi + +# --- Config +allowunannotated=$(git config --bool hooks.allowunannotated) +allowdeletebranch=$(git config --bool hooks.allowdeletebranch) +denycreatebranch=$(git config --bool hooks.denycreatebranch) +allowdeletetag=$(git config --bool hooks.allowdeletetag) +allowmodifytag=$(git config --bool hooks.allowmodifytag) + +# check for no description +projectdesc=$(sed -e '1q' "$GIT_DIR/description") +case "$projectdesc" in +"Unnamed repository"* | "") + echo "*** Project description file hasn't been set" >&2 + exit 1 + ;; +esac + +# --- Check types +# if $newrev is 0000...0000, it's a commit to delete a ref. +zero="0000000000000000000000000000000000000000" +if [ "$newrev" = "$zero" ]; then + newrev_type=delete +else + newrev_type=$(git cat-file -t $newrev) +fi + +case "$refname","$newrev_type" in + refs/tags/*,commit) + # un-annotated tag + short_refname=${refname##refs/tags/} + if [ "$allowunannotated" != "true" ]; then + echo "*** The un-annotated tag, $short_refname, is not allowed in this repository" >&2 + echo "*** Use 'git tag [ -a | -s ]' for tags you want to propagate." >&2 + exit 1 + fi + ;; + refs/tags/*,delete) + # delete tag + if [ "$allowdeletetag" != "true" ]; then + echo "*** Deleting a tag is not allowed in this repository" >&2 + exit 1 + fi + ;; + refs/tags/*,tag) + # annotated tag + if [ "$allowmodifytag" != "true" ] && git rev-parse $refname > /dev/null 2>&1 + then + echo "*** Tag '$refname' already exists." >&2 + echo "*** Modifying a tag is not allowed in this repository." >&2 + exit 1 + fi + ;; + refs/heads/*,commit) + # branch + if [ "$oldrev" = "$zero" -a "$denycreatebranch" = "true" ]; then + echo "*** Creating a branch is not allowed in this repository" >&2 + exit 1 + fi + ;; + refs/heads/*,delete) + # delete branch + if [ "$allowdeletebranch" != "true" ]; then + echo "*** Deleting a branch is not allowed in this repository" >&2 + exit 1 + fi + ;; + refs/remotes/*,commit) + # tracking branch + ;; + refs/remotes/*,delete) + # delete tracking branch + if [ "$allowdeletebranch" != "true" ]; then + echo "*** Deleting a tracking branch is not allowed in this repository" >&2 + exit 1 + fi + ;; + *) + # Anything else (is there anything else?) + echo "*** Update hook: unknown type of update to ref $refname of type $newrev_type" >&2 + exit 1 + ;; +esac + +# --- Finished +exit 0 diff -r e7de191375e6 -r 73eda23fb8fd falco/.git/index Binary file falco/.git/index has changed diff -r e7de191375e6 -r 73eda23fb8fd falco/.git/info/exclude --- /dev/null Thu Jan 01 00:00:00 1970 +0000 +++ b/falco/.git/info/exclude Wed Feb 25 08:50:56 2015 -0500 @@ -0,0 +1,6 @@ +# git ls-files --others --exclude-from=.git/info/exclude +# Lines that start with '#' are comments. +# For a project mostly in C, the following would be a good set of +# exclude patterns (uncomment them if you want to use them): +# *.[oa] +# *~ diff -r e7de191375e6 -r 73eda23fb8fd falco/.git/logs/HEAD --- /dev/null Thu Jan 01 00:00:00 1970 +0000 +++ b/falco/.git/logs/HEAD Wed Feb 25 08:50:56 2015 -0500 @@ -0,0 +1,20 @@ +0000000000000000000000000000000000000000 633c6fa70f199bc9f7215463c2d230be9c0c9a08 stefvanlieshout 1418722908 +0100 clone: from https://github.com/tgac-vumc/falco.git +633c6fa70f199bc9f7215463c2d230be9c0c9a08 ffd46f76eed989746d7d00786397844f2176036d stefvanlieshout 1418811956 +0100 commit: Fixed vcf output (Numer to Number) +ffd46f76eed989746d7d00786397844f2176036d 8ffa76915bed1abb8487adf0ca18e75742b244a2 stefvanlieshout 1418816283 +0100 commit: Changed several STDERR msgs to STDOUT and removed some printing +8ffa76915bed1abb8487adf0ca18e75742b244a2 3c44a79e5d7d0ff4524746e39fc78dbfeae4d991 stefvanlieshout 1418818740 +0100 pull: Fast-forward +3c44a79e5d7d0ff4524746e39fc78dbfeae4d991 48fe69a0f512583b1df0561b9b4d716953a91514 stefvanlieshout 1418818796 +0100 commit: Changed some more STDERR msgs to STDOUT +48fe69a0f512583b1df0561b9b4d716953a91514 1052827d55c3533c17322f227ccc3725320f6e8f stefvanlieshout 1422373104 +0100 pull: Fast-forward +1052827d55c3533c17322f227ccc3725320f6e8f b65bea4880f8250609838d0f7988378393ce98a0 stefvanlieshout 1422377687 +0100 commit: solved no samplename in vcf issue +b65bea4880f8250609838d0f7988378393ce98a0 3ee7eebff84455cd50c4bcf0fe0184c5f0ccaaf0 stefvanlieshout 1424076759 +0100 pull: Fast-forward +3ee7eebff84455cd50c4bcf0fe0184c5f0ccaaf0 f8a42149da198bb1ef28a97c04621171a190f881 stefvanlieshout 1424707915 +0100 commit: script to filter vcf from snpeff and report HTML +f8a42149da198bb1ef28a97c04621171a190f881 f37f880273be83b46c5a1bc9dada2964b7414701 stefvanlieshout 1424707989 +0100 commit: filter file with refseq transcript ids +f37f880273be83b46c5a1bc9dada2964b7414701 9c22be7ca24c0f7a09d7c3e3976e1e4f033176a9 stefvanlieshout 1424708026 +0100 commit: cosmis non-coding filter file +9c22be7ca24c0f7a09d7c3e3976e1e4f033176a9 494ffb7683928c9ee8b364437aac09e36f2feaeb stefvanlieshout 1424708077 +0100 commit: dbsnp file +494ffb7683928c9ee8b364437aac09e36f2feaeb 248f9449bda9e697e5ef6f229dba4e561828ba02 stefvanlieshout 1424708134 +0100 commit: removed some comments +248f9449bda9e697e5ef6f229dba4e561828ba02 311abdac8ca3c942585ca28a0512792d624f5ef3 stefvanlieshout 1424708191 +0100 commit: filter sh replaced by filter-report perl +311abdac8ca3c942585ca28a0512792d624f5ef3 35f78a4da68dde8ff310dc8b727908303fb7e267 stefvanlieshout 1424708196 +0100 commit: filter sh replaced by filter-report perl +35f78a4da68dde8ff310dc8b727908303fb7e267 34ea0ba0f52f73ff9c84563735c00e5322dd2904 stefvanlieshout 1424708335 +0100 commit: mostly indented lines +34ea0ba0f52f73ff9c84563735c00e5322dd2904 3938fbd5a366744dfbde14d795819c02cf0e234d stefvanlieshout 1424708441 +0100 commit: removed transcript filter for now +3938fbd5a366744dfbde14d795819c02cf0e234d 0cd1ebf58da06ec3862ffa727733e5baa766fba0 stefvanlieshout 1424708605 +0100 commit: removed the overview INDEX html as input of caller is now one sample +0cd1ebf58da06ec3862ffa727733e5baa766fba0 6a357ed9620fda6f1d8e7fe24f6285dc923cf62d stefvanlieshout 1424708935 +0100 commit: added filter-report info +6a357ed9620fda6f1d8e7fe24f6285dc923cf62d 7951a7411611115aa8e84d3186682fd9371036c8 stefvanlieshout 1424709095 +0100 commit: cosmic coding filter file diff -r e7de191375e6 -r 73eda23fb8fd falco/.git/logs/refs/heads/master --- /dev/null Thu Jan 01 00:00:00 1970 +0000 +++ b/falco/.git/logs/refs/heads/master Wed Feb 25 08:50:56 2015 -0500 @@ -0,0 +1,20 @@ +0000000000000000000000000000000000000000 633c6fa70f199bc9f7215463c2d230be9c0c9a08 stefvanlieshout 1418722908 +0100 clone: from https://github.com/tgac-vumc/falco.git +633c6fa70f199bc9f7215463c2d230be9c0c9a08 ffd46f76eed989746d7d00786397844f2176036d stefvanlieshout 1418811956 +0100 commit: Fixed vcf output (Numer to Number) +ffd46f76eed989746d7d00786397844f2176036d 8ffa76915bed1abb8487adf0ca18e75742b244a2 stefvanlieshout 1418816283 +0100 commit: Changed several STDERR msgs to STDOUT and removed some printing +8ffa76915bed1abb8487adf0ca18e75742b244a2 3c44a79e5d7d0ff4524746e39fc78dbfeae4d991 stefvanlieshout 1418818740 +0100 pull: Fast-forward +3c44a79e5d7d0ff4524746e39fc78dbfeae4d991 48fe69a0f512583b1df0561b9b4d716953a91514 stefvanlieshout 1418818796 +0100 commit: Changed some more STDERR msgs to STDOUT +48fe69a0f512583b1df0561b9b4d716953a91514 1052827d55c3533c17322f227ccc3725320f6e8f stefvanlieshout 1422373104 +0100 pull: Fast-forward +1052827d55c3533c17322f227ccc3725320f6e8f b65bea4880f8250609838d0f7988378393ce98a0 stefvanlieshout 1422377687 +0100 commit: solved no samplename in vcf issue +b65bea4880f8250609838d0f7988378393ce98a0 3ee7eebff84455cd50c4bcf0fe0184c5f0ccaaf0 stefvanlieshout 1424076759 +0100 pull: Fast-forward +3ee7eebff84455cd50c4bcf0fe0184c5f0ccaaf0 f8a42149da198bb1ef28a97c04621171a190f881 stefvanlieshout 1424707915 +0100 commit: script to filter vcf from snpeff and report HTML +f8a42149da198bb1ef28a97c04621171a190f881 f37f880273be83b46c5a1bc9dada2964b7414701 stefvanlieshout 1424707989 +0100 commit: filter file with refseq transcript ids +f37f880273be83b46c5a1bc9dada2964b7414701 9c22be7ca24c0f7a09d7c3e3976e1e4f033176a9 stefvanlieshout 1424708026 +0100 commit: cosmis non-coding filter file +9c22be7ca24c0f7a09d7c3e3976e1e4f033176a9 494ffb7683928c9ee8b364437aac09e36f2feaeb stefvanlieshout 1424708077 +0100 commit: dbsnp file +494ffb7683928c9ee8b364437aac09e36f2feaeb 248f9449bda9e697e5ef6f229dba4e561828ba02 stefvanlieshout 1424708134 +0100 commit: removed some comments +248f9449bda9e697e5ef6f229dba4e561828ba02 311abdac8ca3c942585ca28a0512792d624f5ef3 stefvanlieshout 1424708191 +0100 commit: filter sh replaced by filter-report perl +311abdac8ca3c942585ca28a0512792d624f5ef3 35f78a4da68dde8ff310dc8b727908303fb7e267 stefvanlieshout 1424708196 +0100 commit: filter sh replaced by filter-report perl +35f78a4da68dde8ff310dc8b727908303fb7e267 34ea0ba0f52f73ff9c84563735c00e5322dd2904 stefvanlieshout 1424708335 +0100 commit: mostly indented lines +34ea0ba0f52f73ff9c84563735c00e5322dd2904 3938fbd5a366744dfbde14d795819c02cf0e234d stefvanlieshout 1424708441 +0100 commit: removed transcript filter for now +3938fbd5a366744dfbde14d795819c02cf0e234d 0cd1ebf58da06ec3862ffa727733e5baa766fba0 stefvanlieshout 1424708605 +0100 commit: removed the overview INDEX html as input of caller is now one sample +0cd1ebf58da06ec3862ffa727733e5baa766fba0 6a357ed9620fda6f1d8e7fe24f6285dc923cf62d stefvanlieshout 1424708935 +0100 commit: added filter-report info +6a357ed9620fda6f1d8e7fe24f6285dc923cf62d 7951a7411611115aa8e84d3186682fd9371036c8 stefvanlieshout 1424709095 +0100 commit: cosmic coding filter file diff -r 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2015 -0500 @@ -0,0 +1,5 @@ +x�� P�� Pʖ�e�EI +�B�~�G��&�d^�לSe�C_��P��r� z��5��d=�4r��-�;zD�� я��C��&ՠ4�5C�2��aZ� \ No newline at end of file diff -r e7de191375e6 -r 73eda23fb8fd falco/.git/objects/b6/956c781570c17a9d20b06f8c45b46d527f40f9 Binary file falco/.git/objects/b6/956c781570c17a9d20b06f8c45b46d527f40f9 has changed diff -r e7de191375e6 -r 73eda23fb8fd falco/.git/objects/b9/c94d6db9f1fbab74c33eb6a4c57f3085277d81 Binary file falco/.git/objects/b9/c94d6db9f1fbab74c33eb6a4c57f3085277d81 has changed diff -r e7de191375e6 -r 73eda23fb8fd falco/.git/objects/bb/09c8048e36e67c6de76de8fde8701e01126240 Binary file falco/.git/objects/bb/09c8048e36e67c6de76de8fde8701e01126240 has changed diff -r e7de191375e6 -r 73eda23fb8fd falco/.git/objects/bb/24bdb3c02e4c7af013a442cd1cf722d94fc450 Binary file falco/.git/objects/bb/24bdb3c02e4c7af013a442cd1cf722d94fc450 has changed diff -r e7de191375e6 -r 73eda23fb8fd falco/.git/objects/bb/40a52673a655c5bc0a592c9b5f7d67f011049d Binary file 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falco/.git/objects/eb/fe8c7b135ff28773fda8939772ec7976e327f6 Binary file falco/.git/objects/eb/fe8c7b135ff28773fda8939772ec7976e327f6 has changed diff -r e7de191375e6 -r 73eda23fb8fd falco/.git/objects/ed/8c0b8eeb86af1257fe8605348f4e901c27b987 Binary file falco/.git/objects/ed/8c0b8eeb86af1257fe8605348f4e901c27b987 has changed diff -r e7de191375e6 -r 73eda23fb8fd falco/.git/objects/ee/10caf228ea7fd9e0f1b205802c1ff4145f74a1 Binary file falco/.git/objects/ee/10caf228ea7fd9e0f1b205802c1ff4145f74a1 has changed diff -r e7de191375e6 -r 73eda23fb8fd falco/.git/objects/ee/88347635007f1798d8a03cf8a1339907dc4ba8 Binary file falco/.git/objects/ee/88347635007f1798d8a03cf8a1339907dc4ba8 has changed diff -r e7de191375e6 -r 73eda23fb8fd falco/.git/objects/f1/0f2ae97f584a06e8c9af1443977a3bc683e4a2 Binary file falco/.git/objects/f1/0f2ae97f584a06e8c9af1443977a3bc683e4a2 has changed diff -r e7de191375e6 -r 73eda23fb8fd falco/.git/objects/f2/379fe438939b0162f54ffe7e117da72b68a12d Binary file 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+0000 +++ b/falco/.git/objects/f8/a42149da198bb1ef28a97c04621171a190f881 Wed Feb 25 08:50:56 2015 -0500 @@ -0,0 +1,3 @@ +x��=n!@�ԜbzK�@��.�.��H˲��ϟ�2m�W|z�[� +>�'�qY%E,X�%'o��0��>�{Ý�w��91�"9��-�� +[�E�D�b ��Ley�U��~W8� o�S��Y�+��C��k�wW�ߐ�4ꡠ�n?��d�s?Xp��ǻ�.�`� \ No newline at end of file diff -r e7de191375e6 -r 73eda23fb8fd falco/.git/objects/fb/6597fc3190d5689e8f1136e6896f02df1aca96 Binary file falco/.git/objects/fb/6597fc3190d5689e8f1136e6896f02df1aca96 has changed diff -r e7de191375e6 -r 73eda23fb8fd falco/.git/objects/fd/5ee2b183c668b1d54ccfc6b9052d942ec159af Binary file falco/.git/objects/fd/5ee2b183c668b1d54ccfc6b9052d942ec159af has changed diff -r e7de191375e6 -r 73eda23fb8fd falco/.git/objects/fd/780b14263ded14aa7bbb863b927d41102f5fe6 Binary file falco/.git/objects/fd/780b14263ded14aa7bbb863b927d41102f5fe6 has changed diff -r e7de191375e6 -r 73eda23fb8fd falco/.git/objects/ff/d46f76eed989746d7d00786397844f2176036d --- /dev/null Thu Jan 01 00:00:00 1970 +0000 +++ b/falco/.git/objects/ff/d46f76eed989746d7d00786397844f2176036d Wed Feb 25 08:50:56 2015 -0500 @@ -0,0 +1,1 @@ +x�λj1��z�)a�Z��W)��^��fWk��Y\�uw8��skS�!��T�*�+�B)y�"�DL�sH��-r��Qm΅��18��Hf�L�m� catalog of each assayed bp - *.qc2.ann.txt -> catalog of transitions @@ -19,6 +17,17 @@ example: -falco --bam input.bam --output outputBase --ref [hg19.fa] +OUTBASE="HCT116-TEST" + +## variant calling +falco --bam data/HCT-116/HCT116.bam --output $OUTBASE --ref genome.fa + +file1=$OUTBASE".qc.ann.qual.txt" +file2=$OUTBASE".qc2.ann.txt" +file3=$OUTBASE".qc.targets.txt" +file4=$OUTBASE".res.filtered.tsv" + +## variant filtering and reporting +falco-filter-report --vcf snpeff.vcf --output $OUTBASE --qc_ann_qual_txt $file1 --qc2_ann_txt $file2 --qc_targets_txt $file3 --res_filtered_tsv $file4 diff -r e7de191375e6 -r 73eda23fb8fd falco/bin/falco --- a/falco/bin/falco Thu Jan 08 06:18:04 2015 -0500 +++ b/falco/bin/falco Wed Feb 25 08:50:56 2015 -0500 @@ -50,11 +50,6 @@ exit 1; } -# perl perAmpliconAnalysis -# R addQual.R -# perl qcFilt -# perl qc2vcf - print STDOUT localtime() . " [$$] $perAmpliconAnalysis $bam $ref $manifest $base $samtools\n"; system("$perAmpliconAnalysis $bam $ref $manifest $base $samtools"); diff -r e7de191375e6 -r 73eda23fb8fd falco/bin/falco-filter-report --- /dev/null Thu Jan 01 00:00:00 1970 +0000 +++ b/falco/bin/falco-filter-report Wed Feb 25 08:50:56 2015 -0500 @@ -0,0 +1,94 @@ +#!/usr/bin/perl +use strict; +use Cwd 'abs_path'; +use Getopt::Long; +use File::Basename; + +my $absPath = abs_path($0); +my $dir = dirname($absPath); +my $lib = "$dir/../lib/"; + +my $vcf2tsv = "$lib/perl/vcf2tsv.pl"; +my $spliteff = "$lib/perl/splitEff.pl"; +my $filter = "$lib/perl/filter.pl"; +my $plotPng = "$lib/R/plotsPng.R"; +my $mkReport = "$lib/perl/mkHtmlReport.pl"; + +my $locifilt = "$dir/../ref/filters/filter.tsv"; +my $manifest = "$dir/../ref/TSACP/TruSeq_Amplicon_Cancer_Panel_Manifest_AFP1_PN15032433.txt"; + +my $canonicals = "$dir/../ref/TSACP/canonicals.tsv"; +my $clinvar = "$dir/../ref/filters/clinvar_00-latest.f.vcf"; +my $cosmic = "$dir/../ref/filters/CosmicCodingMuts_v64_26032013_noLimit_wgs.f.vcf"; +my $cosmicNC = "$dir/../ref/filters/CosmicNonCodingVariants_v64_26032013_noLimit_wgs.f.vcf"; + +my $base = undef; +my $vcf = undef; +my $vcfOther = undef; +my $noFilt = undef; +my $noPlot = undef; + +my $qc_ann_qual_txt = undef; +my $qc2_ann_txt = undef +my $qc_targets_txt = undef; + +GetOptions ( + "vcf=s" => \$vcf, + "vcfOther=s" => \$vcfOther, + "output=s" => \$base, + "canonicals=s" => \$canonicals, + "clinvar=s" => \$clinvar, + "cosmic=s" => \$cosmic, + "cosmicNC=s" => \$cosmicNC, + "noFilt" => \$noFilt, + "noPlot" => \$noPlot, + "qc_ann_qual_txt=s" => \$qc_ann_qual_txt, + "qc2_ann_txt=s" => \$qc2_ann_txt, + "qc_targets_txt=s" => \$qc_targets_txt, +) +or die("Error in command line arguments\n"); + +## sanity checks +die( "No base name provided [-output]\n" ) unless defined($base) and $base ne ''; +die( "No VCF file provided [-vcf]\n" ) unless defined($vcf) and -f $vcf; +die( "Missing input [-qc_ann_qual_txt]\n" ) unless defined($qc_ann_qual_txt) and -f $qc_ann_qual_txt; +die( "Missing input [-qc2_ann_txt]\n" ) unless defined($qc2_ann_txt) and -f $qc2_ann_txt; +die( "Missing input [-qc_targets_txt]\n" ) unless defined($qc_targets_txt) and -f $qc_targets_txt; +die( "Required file does not exists [$canonicals]\n" ) unless -f $canonicals; +die( "Required file does not exists [$clinvar]\n" ) unless -f $clinvar; +die( "Required file does not exists [$cosmic]\n" ) unless -f $cosmic; +die( "Required file does not exists [$cosmicNC]\n" ) unless -f $cosmicNC; + + +## Rscript check +my $rscript = `which Rscript`; +chomp $rscript; +if ($rscript !~ /Rscript$/) { + print STDERR "No Rscript present in PATH\n"; + exit 1; +} + +## FILTERING +print STDOUT localtime() . " [$$] converting vcf to tsv\n"; +system( "$vcf2tsv $vcf > $base\.tsv" ); + +print STDOUT localtime() . " [$$] splitting vcf columns\n"; +system( "$spliteff $base\.tsv Falco >> $base\.res\.tsv" ); + +if ( defined($vcfOther) ){ + print STDOUT localtime() . " [$$] converting vcf to tsv\n"; + system( "$vcf2tsv $vcf > $base\.Other\.tsv" ); + print STDOUT localtime() . " [$$] splitting vcf columns\n"; + system( "$spliteff $base\.Other\.tsv Other >> $base\.res\.tsv" ); +} + +print STDOUT localtime() . " [$$] filtering data\n"; +system( "$filter $base\.res\.tsv $canonicals $clinvar $cosmic $cosmicNC > $base\.res\.filtered\.tsv" ); + +## PLOTTING +print STDOUT localtime() . " [$$] Creating plots\n"; +system( "Rscript $plotPng $qc_ann_qual_txt $qc2_ann_txt $qc_targets_txt $base\.res\.filtered\.tsv $clinvar $locifilt $base" ); + +## REPORTING +print STDOUT localtime() . " [$$] Creating HTML report\n"; +system( "perl $mkReport" ); diff -r e7de191375e6 -r 73eda23fb8fd falco/data/HCT-116/HCT116.bam Binary file falco/data/HCT-116/HCT116.bam has changed diff -r e7de191375e6 -r 73eda23fb8fd falco/data/HCT-116/HCT116.bam.bai Binary file falco/data/HCT-116/HCT116.bam.bai has changed diff -r e7de191375e6 -r 73eda23fb8fd falco/lib/R/plotsPng.R --- /dev/null Thu Jan 01 00:00:00 1970 +0000 +++ b/falco/lib/R/plotsPng.R Wed Feb 25 08:50:56 2015 -0500 @@ -0,0 +1,504 @@ +#!/usr/bin/Rscript + +args <- commandArgs(T) + +print(args[1]) # qc.ann.qual.txt +print(args[2]) # qc2.ann.qtxt +print(args[3]) # qc.targets.txt +print(args[4]) # res.txt (unfiltered) +print(args[5]) # clinvar +print(args[6]) # lociFilt +print(args[7]) # basename +options(warn=1) +print(paste("Reading", args[1], sep=" ")); +read.delim(args[1], header=T, stringsAsFactors=F) -> d +print(paste("Reading", args[2], sep=" ")); +read.delim(args[2], header=T, stringsAsFactors=F) -> d2 +print(paste("Reading", args[3], sep=" ")); +read.delim(args[3], header=T, stringsAsFactors=F) -> qc +print(paste("Reading", args[4], sep=" ")); +read.delim(args[4], header=T, stringsAsFactors=F, row.names=NULL) -> res +print(paste("Reading", args[5], sep=" ")); +## clinvar is a VCF with "##" header lines to skip +headerLineCount <- length( grep('^##', readLines(args[5])) ) +read.delim(args[5], header=T, stringsAsFactors=F, skip=headerLineCount) -> dclin +print(paste("Reading", args[6], sep=" ")); +read.delim(args[6], header=F, stringsAsFactors=F) -> lociFilt +base <- args[7] + +# Error rate per cycle +# VAF distribution +# varDepth distribution ? +# Print coverage plots per amplicon + +tmpCP <- paste(d$X.chr, d$pos, sep=":") +tmpClin <- paste(paste("chr", dclin[,1], sep=""), dclin[,2], sep=":") +tmpSnp <- paste(paste("chr", lociFilt[,1], sep=""), lociFilt[,2], sep=":") + +inClin <- tmpCP %in% tmpClin + +inSnp <- tmpCP %in% tmpSnp + +dir.create(base) +setwd(base) +#unique(unlist(strsplit(d$V3, "\\|"))) -> targets +targets <- qc[,1] +if (1) { + print("Plotting variant heatmap") + # Including off targets increases the amplicon length set at median amplicon length + 10%. + median(qc$end - qc$start) -> maxAmpLn + maxAmpLn <- ceiling(1.2 * maxAmpLn) + print(maxAmpLn) + ampHeatF <- matrix(ncol=maxAmpLn, nrow=nrow(qc)) + ampHeatR <- matrix(ncol=maxAmpLn, nrow=nrow(qc)) + #dPos <- paste(d$chr, d$pos, sep=":") + #errPos <- paste(dclin$chr, dclin$pos, sep=":") + #dPosClin <- dPos %in% errPos + + dPosClin <- !inClin & !inSnp + + for (i in 1:nrow(qc)) { + d$pos %in% qc$start[i]:qc$end[i] -> sel + poss <- d$pos[sel & !dPosClin] - qc$start[i] + 1 + poss <- poss[poss <= maxAmpLn] + ampHeatF[i, poss] <- d$nVar[sel & !dPosClin] + d$nN[sel & !dPosClin] + ampHeatR[i, poss] <- rev(d$nVar[sel & !dPosClin] + d$nN[sel & !dPosClin]) + } + png(paste(base,"heat","png", sep="."), width=960, height=480) + par(mar=c(4,4,4,2) + .1) + + ampHeatF[is.na(ampHeatF)] <- 0 + ampHeatR[is.na(ampHeatR)] <- 0 + layout(matrix(1:2, nrow=2)) + maxN <- quantile(ampHeatF, .99) + #heatmap(ampHeat) + boxplot(ampHeatF, ylim=c(0, maxN), pch=20, cex=.4, main="Non reference counts R1") + rect(150, 0, ncol(ampHeatF), maxN, col="#00000040") + boxplot(ampHeatR, ylim=c(0, maxN), pch=20, cex=.4, main="Non reference counts R2") + rect(150, 0, ncol(ampHeatR), maxN, col="#00000040") + dev.off() + + #d[,7]/d[,4] * 100 -> d$pctREF + #d[,8]/d[,4] * 100 -> d$pctVAR + d$nRef/d$dp * 100 -> d$pctREF + d$nVar/d$dp * 100 -> d$pctVAR + d$vaf <- d$nVar / (d$nVar + d$nRef) * 100 + print("Plotting ref frequencies") + png(paste(base,"raf","png", sep="."), width=480, height=480) + dref <- density(d$pctREF[!dPosClin]) + #plot(dref, ylim=range(dref$y[dref$x < 80] )) + hist(d$pctREF[!dPosClin], breaks=100, ylim=c(0, 30), col="#00000040", border=NA) + dev.off() + + print("Plotting var frequencies") + png(paste(base,"vaf","png", sep="."), width=480, height=480) + dvar <- density(d$pctVAR[!dPosClin]) + #plot(dvar, ylim=range(dvar$y[dvar$x > 20] )) + hist(d$pctVAR[!dPosClin], breaks=100, ylim=c(0, 30), col="#00000040", border=NA) + dev.off() + + # Set vaf cutoff + #q95 <- quantile(d$qScore, .95, na.rm=T) + q95 <- 20 + vs95 <- sd(d$pctVAR[!dPosClin & d$qScore < q95], na.rm=T) + v95 <- mean(d$pctVAR[!dPosClin & d$qScore < q95], na.rm=T) + vs95 * 3 + + nCall <- sum((d$pctVAR > v95) & d$qScore > q95 & !inSnp, na.rm=T) + print(nCall) + print("Plotting vaf vs q") + png(paste(base,"snv-q","png", sep="."), width=480, height=480) + plot(d$qScore, d$pctVAR, pch=20, cex=.5, main=paste("q:", q95, "-", "v:", v95, "--", "s:", nCall, sep=" ")) + abline(h=c(1,5), v=c(20,13), lty=2) + abline(v=q95, h=v95, lty=3, col=2) + points(d$qScore[d$dp < 100], d$pctVAR[d$dp < 100], pch=20, cex=1.2, col=2) + points(d$qScore[d$nVar < 10], d$pctVAR[d$nVar < 10], pch=20, cex=1, col=4) + legend(30,80, c("pass", "dp < 100", "nVar < 10"), col=c(1,2,4), pch=20) + dev.off() + + print("Plotting vaf vs q zoomed") + png(paste(base,"snv-q-zoom","png", sep="."), width=480, height=480) + plot(d$qScore, d$pctVAR, pch=20, cex=.5, xlim=c(0, 40),ylim=c(0,10)) + abline(h=c(1,5), v=c(20,13), lty=2) + abline(v=q95, h=v95, lty=3, col=2) + points(d$qScore[d$dp < 100], d$pctVAR[d$dp < 100], pch=20, cex=1.2, col=2) + points(d$qScore[d$nVar < 10], d$pctVAR[d$nVar < 10], pch=20, cex=1, col=4) + legend("topright", c("pass", "dp < 100", "nVar < 10"), col=c(1,2,4), pch=20) + dev.off() + + print("Plotting ins vs q") + d$vafI <- 0 + d$occI <- 0 + if (sum(d$ins != ".") > 0) { + png(paste(base,"ins-q","png", sep="."), width=480, height=480) + data.frame(matrix(unlist(strsplit(unlist(strsplit(as.character(d$ins[d$ins != "."]), "\\|")), ":")), ncol=2, byrow=T)) -> insDat + colnames(insDat) <- c("seq", "occ") + insDat$seq <- as.character(insDat$seq) + insDat$occ <- as.numeric(as.vector(insDat$occ)) + nchar(insDat$seq) -> insDat$ln + d$occI[d$ins != "."] <- insDat$occ + d$vafI[d$ins != "."] <- insDat$occ / d$nRef[d$ins != "."] + d$qScoreI[d$qScoreI > 1000] <- 1000 + plot(d$qScoreI, d$occI, pch=20, cex=1) + abline(h=c(10), v=c(20,13), lty=2) + # dp 500 + sel <- d$dp < 100 + points(d$qScoreI[sel], d$occI[sel], pch=20, cex=1.2, col=2) + # nVar 10 + #sel <- d$occI < 10 + #points(d$qScoreI[sel], d$occI[sel], pch=20, cex=1, col=3) + # vaf < 0.01 + sel <- d$vafI < 0.01 + points(d$qScoreI[sel], d$occI[sel], pch=20, cex=1, col=4) + legend("topleft", c("pass", "dp < 100", "vaf < 0.01"), col=c(1,2,4), pch=20) + dev.off() + } + + print("Plotting del vs q") + d$vafD <- 0 + d$occD <- 0 + if (sum(d$del != "." ) > 0) { + png(paste(base,"del-q","png", sep="."), width=480, height=480) + data.frame(matrix(unlist(strsplit(unlist(strsplit(as.character(d$del[d$del != "."]), "\\|")), ":")), ncol=2, byrow=T)) -> delDat + colnames(delDat) <- c("seq", "occ") + delDat$seq <- as.character(delDat$seq) + delDat$occ <- as.numeric(as.vector(delDat$occ)) + nchar(delDat$seq) -> delDat$ln + d$occD[d$del != "."] <- delDat$occ + d$vafD[d$del != "."] <- d$occD[d$del != "."] / d$nRef[d$del != "."] + d$qScoreD[d$qScoreD > 1000] <- 1000 + #hist(d$qScoreD, breaks=1000, ylim=c(0,100)) + #print(sum(d$qScoreD > 20)) + #Sys.sleep(1) + plot(d$qScoreD, d$occD, pch=20, cex=1) + abline(h=c(10), v=c(20,13), lty=2) + # dp 500 + sel <- d$dp < 100 + points(d$qScoreD[sel], d$occD[sel], pch=20, cex=1.2, col=2) + # nVar 10 + #sel <- d$occD < 10 + #points(d$qScoreD[sel], d$occD[sel], pch=20, cex=1, col=3) + # vaf < 0.01 + sel <- d$vafD < 0.01 + points(d$qScoreD[sel], d$occD[sel], pch=20, cex=1, col=4) + legend("topleft", c("pass", "dp < 100", "vaf < 0.01"), col=c(1,2,4), pch=20) + dev.off() + } + + sub("chr", "", qc$chr) -> qc$chrn + ampOrd <- order(qc$chrn, qc$start) + + print("Plotting amplicon depths") + png(paste(base,"amp-dp","png", sep="."), width=960, height=480) + barplot(qc$depth[ampOrd]) + abline(h=100, lty=2) + totRead <- sum(qc$depth, na.rm=T) + legend("topright", paste("Total read count: ", totRead, sep="")) + dev.off() +} + +res$POS <- as.numeric(as.vector(res$POS)) +d$pos <- as.numeric(as.vector(d$pos)) + +grepl("a", d$ntRef, ignore.case=T) -> Asel +grepl("c", d$ntRef, ignore.case=T) -> Csel +grepl("g", d$ntRef, ignore.case=T) -> Gsel +grepl("t", d$ntRef, ignore.case=T) -> Tsel +cntr <- 0 + +biasTable <- data.frame(matrix(NA, nrow=length(targets), ncol=12), row.names=targets) +colnames(biasTable) <- c("AC", "AG", "AT", "CA", "CG", "CT", "GA", "GC", "GT", "TA", "TC", "TG") + +for (i in targets) { + sel <- grepl(i, d$amp) + print(i) + for (c in unique(d[sel,1])) { + csel <- d[,1] == c + print(c) + reg <- paste(range(d[sel & csel,2]), collapse="-", sep="-") + creg <- paste(c, reg, sep=":") + + qcsel <- qc[,1] == i + allsel <- sel & csel + clinSel <- dclin$amp == i + clinPos <- dclin$pos[clinSel] +# inClin <- d$pos %in% clinPos + + #dels <- (d[,15] != ".") & allsel + #ins <- (d[,14] != ".") & sel + # print(reg) + # print(creg) + + # Select annotations + # calculate quantiles and plot them +# quantile(d$pctVAR[sel & csel], c(.75,.90,.95,.99), na.rm=T) -> cutoffs + tmp <- d[sel & csel,] + #dels <- tmp[,15] != "." + #ins <- tmp[,14] != "." + dels <- allsel & d$del != "." + ins <- allsel & d$ins != "." + + resTmp <- res[(res$POS >= min(tmp[,2])) & (res$POS <= max(tmp[,2])) & (res$X.CHROM == c),] + #resSel <- res$TARGET == i + png(paste(base, i, "cov", "png", sep="."), width=960, height=480) + + xvec <- c(0, rep(1:(sum(allsel) - 1), each=2), sum(allsel)) + layout(matrix(1:2, ncol=1), heights=c(2,1)) + par(mar=c(0, 4, 4, 7) + .1, xaxt="n") + print("Cov") + plot(NULL, type="n", main=i, xlab="Position", ylab="Depth", xlim=range(d$pos[allsel]), ylim=range(0, d$dp[allsel])) + xvec <- d$pos[allsel] + yvec <- d$dp[allsel] + + polygon(rep(c(xvec, max(xvec) + 1), each=2) - .5, c(0, rep(yvec, each=2), 0), col="#00000010", border=1) + polygon(rep(c(xvec, max(xvec) + 1), each=2) - .5, c(0, rep(rowSums(d[allsel, 7:8]), each=2), 0), col="#00000010") +# polygon(rep(c(xvec, max(xvec) + 1), each=2) - .5, c(0, rep(d$nVar[allsel], each=2), 0), col=2) + varCol <- rep(2, sum(allsel)) + varCol[grepl("^a", d$ntVar[allsel], ignore.case=T)] <- "green" + varCol[grepl("^c", d$ntVar[allsel], ignore.case=T)] <- "blue" + varCol[grepl("^g", d$ntVar[allsel], ignore.case=T)] <- "black" + varCol[grepl("^t", d$ntVar[allsel], ignore.case=T)] <- "red" + rect(xvec-.5,d$nVar[allsel],xvec+.5,0, col=varCol) + + + ampMax <- max(d[allsel,4]) + #abline(v=resTmp$POS, lty=2, col=2) + #delMark <- list() + #insMark <- list() + + for (idx in which(dels)) { + matrix(unlist(strsplit(as.character(as.vector(d[idx,15])), "[:|]")), ncol=2, byrow=T) -> delDat + nchar(delDat[,1]) -> lngts + dpths <- as.numeric(delDat[,2]) + x1 <- d[idx,2] + .5 + x2 <- x1 + lngts - 1 + if (x2 > max(d$pos[allsel])) { + next + } + # delMark[[length(delMark) + 1]] <- c(x1, x2) + rect(x1, ampMax - dpths , x2, ampMax, col="#00000040") + } + + for (idx in which(ins)) { + matrix(unlist(strsplit(as.character(as.vector(d[idx,14])), "[:|]")), ncol=2, byrow=T) -> insDat + nchar(insDat[,1]) -> lngts + dpths <- as.numeric(insDat[,2]) + x1 <- d$pos[idx] + 1 + # insMark[length(insMark) + 1] <- x1 + for (ii in 1:ncol(insDat)) { + polygon( + c(x1, x1 - (.5 * lngts[ii]), x1 + (.5 * lngts[ii])), + c(ampMax, ampMax - dpths[ii], ampMax - dpths[ii]), + , col="#00000040") + } + } + par(xpd=NA) + legend(max(d$pos[allsel]) + sum(allsel) * 0.05, ampMax, legend=c("Filtered nt", "Ref nt", "Non-ref nt"), col=c("#00000040", "#00000080", "red"), pch=15) + legend(max(d$pos[allsel]) + sum(allsel) * 0.05, 0, legend=c("A", "C", "G", "T"), col=c("green", "blue", "black", "red"), pch=15) + par(xpd=F) + par(mar=c(5, 4, 0, 7) + .1, xaxt="s") + plot(NULL, type="n", xlab="Position", ylab=NA, xlim=range(d$pos[allsel]), ylim=c(0,4.5), yaxt="n") + axis(side=2, at=1:4, labels=c("ins", "del", "snv", "ref"), las=2) + abline(h=1:4, col="#00000040") + sres <- nchar(as.character(resTmp$REF)) == nchar(as.character(resTmp$ALT)) + dres <- nchar(resTmp$REF) > nchar(resTmp$ALT) + ires <- nchar(resTmp$REF) < nchar(resTmp$ALT) + + resTmp$marks <- rep(3.4, nrow(resTmp)) + + resTmp$cols <- rep("#00000040", nrow(resTmp)) + resTmp$cols[grepl("^a", resTmp$ALT, ignore.case=T) & sres] <- "green" + resTmp$cols[grepl("^c", resTmp$ALT, ignore.case=T) & sres] <- "blue" + resTmp$cols[grepl("^g", resTmp$ALT, ignore.case=T) & sres] <- "black" + resTmp$cols[grepl("^t", resTmp$ALT, ignore.case=T) & sres] <- "red" + + #resTmp$cols[dres] <- 2 + #resTmp$cols[ires] <- 2 + resTmp$marks[dres] <- 2.4 + resTmp$marks[ires] <- 1.4 + resTmp$markP1 <- resTmp$POS -.5 + resTmp$markP2 <- resTmp$POS +.5 + resTmp$markP1[dres] <- resTmp$POS[dres] +.5 + resTmp$markP2[dres] <- resTmp$POS[dres] +.5 + nchar(resTmp$REF[dres]) - 1 + resTmp$markP1[ires] <- resTmp$POS[ires] +.5 + resTmp$markP2[ires] <- resTmp$POS[ires] +.5 + 1 + ntCol <- rep(1, sum(allsel)) + ntCol[grepl("a", d$ntRef[allsel], ignore.case=T)] <- "green" + ntCol[grepl("c", d$ntRef[allsel], ignore.case=T)] <- "blue" + ntCol[grepl("g", d$ntRef[allsel], ignore.case=T)] <- "black" + ntCol[grepl("t", d$ntRef[allsel], ignore.case=T)] <- "red" + + rect(d$pos[allsel] -.5, 4.4, d$pos[allsel] +.5, 3.6, col=ntCol, border=0) + rect(resTmp$markP1, resTmp$marks, resTmp$markP2, resTmp$marks - .8, col=resTmp$cols, border=0) + + if(length(clinPos != 0)) { + rect(clinPos - .5, 3.5, clinPos + .5, .5, border="black", lwd=2) + } + #lapply(delMark, function(x) { rect(x[1], 2, x[2], 1, col=2, border=NA) }) + #lapply(insMark, function(x) { rect(x[1], 1, x[1] + 1, 0, col=3, border=NA) }) + + # Highlight clinically relevant loci + #for (i in which(dclin$amp == i)) { + # if (dclin$REF[i] == nchar + #} + + dev.off() + + sansClin <- allsel & !inClin + sansSnp <- allsel & !inSnp + + d$nA[sansClin & sansSnp & Asel] -> AA + d$nC[sansClin & sansSnp & Asel] -> AC + d$nG[sansClin & sansSnp & Asel] -> AG + d$nT[sansClin & sansSnp & Asel] -> AT + + d$nA[sansClin & sansSnp & Csel] -> CA + d$nC[sansClin & sansSnp & Csel] -> CC + d$nG[sansClin & sansSnp & Csel] -> CG + d$nT[sansClin & sansSnp & Csel] -> CT + + d$nA[sansClin & sansSnp & Gsel] -> GA + d$nC[sansClin & sansSnp & Gsel] -> GC + d$nG[sansClin & sansSnp & Gsel] -> GG + d$nT[sansClin & sansSnp & Gsel] -> GT + + d$nA[sansClin & sansSnp & Tsel] -> TA + d$nC[sansClin & sansSnp & Tsel] -> TC + d$nG[sansClin & sansSnp & Tsel] -> TG + d$nT[sansClin & sansSnp & Tsel] -> TT + + print("Bias") + png(paste(base, i, "bias", "png", sep="."), width=960, height=480) + + Acnt <- sum(sum(AA), sum(AC), sum(AG), sum(AT)) + Ccnt <- sum(sum(CA), sum(CC), sum(CG), sum(CT)) + Gcnt <- sum(sum(GA), sum(GC), sum(GG), sum(GT)) + Tcnt <- sum(sum(TA), sum(TC), sum(TG), sum(TT)) + + NTsums <- c( + sum(AC)/Acnt, sum(AG)/Acnt, sum(AT)/Acnt, + sum(CA)/Ccnt, sum(CG)/Ccnt, sum(CT)/Ccnt, + sum(GA)/Gcnt, sum(GC)/Gcnt, sum(GT)/Gcnt, + sum(TA)/Tcnt, sum(TC)/Tcnt, sum(TG)/Tcnt) + NTsums[!is.finite(NTsums)] <- 0 + NTsums[is.nan(NTsums)] <- 0 + NTsums[is.na(NTsums)] <- 0 + + barplot(NTsums, names.arg=c("AC", "AG", "AT", "CA", "CG", "CT", "GA", "GC", "GT", "TA", "TC", "TG"), main=i) + dev.off() + biasTable[rownames(biasTable) == i, ] <- NTsums + + print("Cov2") + png(paste(base, i, "cov2", "png", sep="."), width=960, height=480) + layout(matrix(1:2, ncol=1), heights=c(2,1)) + par(mar=c(0, 4, 4, 7) + .1, xaxt="n") + + + dat <- d2[d2$amp == i,] + rled <- rle(sort(dat$pos)) + rds <- sort(unique(dat$X.read)) + lst <- c() + for (ii in order(rled$lengths, decreasing=T)) + { + + rled$values[ii] -> pos + dat$X.read[dat$pos == pos] + lst <- c(lst, rds %in% dat$X.read[dat$pos == pos]) + + } + #xlim <- range(dat$pos) + xlim=range(d$pos[allsel]) + ylim=range(0, d$dp[allsel]) + plot(NULL, xlim=xlim, ylim=ylim, main=i, ylab="Depth") + rect(xlim[1] - 0.5, 0, xlim[2] + .5, ylim[2], col="#00000010") + if (length(lst) > 0) { + matrix(lst, nrow=length(rds), byrow=F) -> mat + do.call( order, data.frame(mat) ) -> ord + for (e in 1:length(ord)) { + sel <- dat$X.read == rds[ord[e]] + colvec <- rep(1, sum(sel)) + colvec[grepl("A$", dat$event[sel], ignore.case=T)] <- "green" + colvec[grepl("C$", dat$event[sel], ignore.case=T)] <- "blue" + colvec[grepl("G$", dat$event[sel], ignore.case=T)] <- "black" + colvec[grepl("T$", dat$event[sel], ignore.case=T)] <- "red" + #points(dat$pos[ sel ], rep(e, sum(sel)), col=colvec, pch=20, cex=.2) + segments(dat$pos[ sel ] - .5, rep(e, sum(sel)), dat$pos[ sel ] + .5, rep(e, sum(sel)), col=colvec, pch=20, cex=.2) + } + } + + par(xpd=NA) + legend(max(d$pos[allsel]) + sum(allsel) * 0.05, ampMax, legend=c("Filtered nt", "Ref nt", "Non-ref nt"), col=c("#00000040", "#00000080", "red"), pch=15) + legend(max(d$pos[allsel]) + sum(allsel) * 0.05, 0, legend=c("A", "C", "G", "T"), col=c("green", "blue", "black", "red"), pch=15) + par(xpd=F) + par(mar=c(5, 4, 0, 7) + .1, xaxt="s") + plot(NULL, type="n", xlab="Position", ylab=NA, xlim=range(d$pos[allsel]), ylim=c(0,4.5), yaxt="n") + axis(side=2, at=1:4, labels=c("ins", "del", "snv", "ref"), las=2) + abline(h=1:4, col="#00000040") + sres <- nchar(as.character(resTmp$REF)) == nchar(as.character(resTmp$ALT)) + dres <- nchar(resTmp$REF) > nchar(resTmp$ALT) + ires <- nchar(resTmp$REF) < nchar(resTmp$ALT) + + resTmp$marks <- rep(3.4, nrow(resTmp)) + + resTmp$cols <- rep("#00000040", nrow(resTmp)) + resTmp$cols[grepl("^a", resTmp$ALT, ignore.case=T) & sres] <- "green" + resTmp$cols[grepl("^c", resTmp$ALT, ignore.case=T) & sres] <- "blue" + resTmp$cols[grepl("^g", resTmp$ALT, ignore.case=T) & sres] <- "black" + resTmp$cols[grepl("^t", resTmp$ALT, ignore.case=T) & sres] <- "red" + + #resTmp$cols[dres] <- 2 + #resTmp$cols[ires] <- 2 + resTmp$marks[dres] <- 2.4 + resTmp$marks[ires] <- 1.4 + resTmp$markP1 <- resTmp$POS -.5 + resTmp$markP2 <- resTmp$POS +.5 + resTmp$markP1[dres] <- resTmp$POS[dres] +.5 + resTmp$markP2[dres] <- resTmp$POS[dres] +.5 + nchar(resTmp$REF[dres]) - 1 + resTmp$markP1[ires] <- resTmp$POS[ires] +.5 + resTmp$markP2[ires] <- resTmp$POS[ires] +.5 + 1 + ntCol <- rep(1, sum(allsel)) + ntCol[grepl("a", d$ntRef[allsel], ignore.case=T)] <- "green" + ntCol[grepl("c", d$ntRef[allsel], ignore.case=T)] <- "blue" + ntCol[grepl("g", d$ntRef[allsel], ignore.case=T)] <- "black" + ntCol[grepl("t", d$ntRef[allsel], ignore.case=T)] <- "red" + + rect(d$pos[allsel] -.5, 4.4, d$pos[allsel] +.5, 3.6, col=ntCol, border=0) + rect(resTmp$markP1, resTmp$marks, resTmp$markP2, resTmp$marks - .8, col=resTmp$cols, border=0) + + if(length(clinPos != 0)) { + rect(clinPos - .5, 3.5, clinPos + .5, .5, border="black", lwd=2) + } + + + dev.off() + +# png(paste(base, i, "vaf", "png", sep="."), width=960, height=480) +# plot(d[sel & csel,2], d$vaf[sel & csel], type="l", ylim=c(0,100), main=paste(i, creg, cutoffs[3], sep=" "), xlab="position", ylab="%", col=2) + #lines(d[sel & csel,2], d$pctVAR[sel & csel], type="l", col=2) +# abline(h=100) +# abline(h=c(1,5,10,50,90,95,99), lty=3, col=1) +# abline(h=cutoffs[3], lty=4, col=2) +# abline(v=c(limP[1], limP[1] + 150, limP[2] - 150, limP[2]),lty=4) +# abline(v=c(qc[qcsel,8:9]), lty=5, col=2) +# if (length(labs != 0)) { +# text(resTmp$POS[resTmp$vaf > (cutoffs[3]/100)], 50, labels=resTmp$Amino_Acid_change[resTmp$vaf > (cutoffs[3]/100)]) +# abline(v=resTmp$POS[resTmp$vaf > (cutoffs[3]/100)], col="grey", lty=4) +# } +# dev.off() + } +} + +png(paste(base, "biasheat", "png", sep="."), width=960, height=960) +write.table(biasTable, paste(base, "bias", "tsv", sep="."), sep="\t") +biasTable[is.na(biasTable)] <- 0 +heatmap(data.matrix(biasTable), Colv=NA, scale="r") +dev.off() +png(paste(base, "bias", "png", sep="."), width=960, height=480) +boxplot(data.matrix(biasTable), pch=20, cex=.5) +dev.off() +warnings() +#hist(d$pctVAR[d$pctVAR < 20], breaks=40, ylim=c(0,1000)) +#hist(d$pctREF[d$pctREF > 80], breaks=40, ylim=c(0,1000)) + +#print(summary(d$pctVAR)) + + diff -r e7de191375e6 -r 73eda23fb8fd falco/lib/perl/filter.pl --- /dev/null Thu Jan 01 00:00:00 1970 +0000 +++ b/falco/lib/perl/filter.pl Wed Feb 25 08:50:56 2015 -0500 @@ -0,0 +1,133 @@ +#!/usr/bin/perl -w + +use strict; + +my $file = shift; +my $canonicals = shift; +my $clinvar = shift; +my $cosmic = shift; +my $cosmicNC = shift; + +my $minDP = 100; +my $minVAR = 10; +my $minVAF = 0.01; + +my %can = (); +my %nm = (); +my %cvHsh = (); + +print STDERR "Reading in canonicals,..."; +open CAN, "<$canonicals"; +while () { + chomp; + my @row = split(/\t/, $_); + $can{$row[0]} = @row[1 .. $#row]; + my $pri = 0; + $nm{$_} = $pri++ foreach @row[1 .. $#row]; +} +close CAN; + +print STDERR "Reading clinvars...\n"; +open CV, "<$clinvar"; +while () { last if (/#CHROM/); } +while () { + chomp; + my @row = split(/\t/, $_); + push @{$cvHsh{"chr".$row[0].":".$row[1]}}, [@row]; +} +close CV; + +print STDERR "Reading COSMIC...\n"; +open CV, "<$cosmic"; +while () { last if (/#CHROM/); } +while () { + chomp; + my @row = split(/\t/, $_); + push @{$cvHsh{"chr".$row[0].":".$row[1]}}, [@row]; +} +close CV; + +print STDERR "Reading COSMICNC...\n"; +open CV, "<$cosmicNC"; +while () { last if (/#CHROM/); } +while () { + chomp; + my @row = split(/\t/, $_); + push @{$cvHsh{"chr".$row[0].":".$row[1]}}, [@row]; +} + +close CV; +print STDERR "done!\n"; + +print STDERR "Processing $file\n"; + +open F, "<$file"; +my $head = readline(F); +chomp $head; + +print $head . "\tvaf\n"; + +my @rowHead = split(/\t/, $head); +my $colN = 0; +my %col = map { + $_ => $colN++ } @rowHead; + +while () { + chomp; + my $line = $_; + my @row = split(/\t/, $_); + next unless (exists($can{$row[$col{Gene_Name}]})); + my $trans = $row[$col{Transcript_ID}]; + $trans =~ s/\..*$//; + + ## impossible to switch off these two transcript filters + ## so commented out for now + # if (not exists($nm{$trans})) { + # print STDERR "Unknown transcript: $row[$col{Gene_Name}] $trans\n"; + # next; + # } + # elsif ($nm{$trans} != 0) { + # print STDERR "Non cannonical: $row[$col{Gene_Name}] $trans\n"; + # next; + # } + + # Annotate clinincal variants and cosmic mutations + + my $chr = $row[$col{"#CHROM"}]; + my $pos = $row[$col{POS}]; + + if (exists($cvHsh{"$chr:$pos"})) { + my $rows = $cvHsh{"$chr:$pos"}; + my $cv = join("|", map { $_->[2] } @$rows); + $row[2] .= "|$cv"; + } + + # Filter INTERGENIC + next if ($row[$col{Context}] eq "INTERGENIC"); + + # Filter SYNONYMOUS_CODING + # Dubbel mutatie BRAF +# next if ($row[$col{Context}] eq "SYNONYMOUS_CODING"); + + # Filter INTRON + next if ($row[$col{Context}] eq "INTRON"); + + # Filter dbSNP +# next if ($row[2] ne "."); + + # Filter depth + next if ($row[$col{DP}] < $minDP); + + my ($nref, $nvar) = split(/,/, $row[$col{AD}]); + # Filter var depth +# print STDERR "DEBUG: " . $nvar . "\n"; sleep 1; + next if ($nvar < $minVAR); + + my $vaf = $nvar / ($nref + $nvar); +# print STDERR "DEBUG: " . $vaf . "\n"; + # Filter vaf + next if ($vaf < $minVAF); + + print join("\t", @row, $vaf) . "\n"; +} +close F; diff -r e7de191375e6 -r 73eda23fb8fd falco/lib/perl/mkHtmlReport.pl --- /dev/null Thu Jan 01 00:00:00 1970 +0000 +++ b/falco/lib/perl/mkHtmlReport.pl Wed Feb 25 08:50:56 2015 -0500 @@ -0,0 +1,234 @@ +#!/usr/bin/perl -w + +use strict; +use Cwd; +use Spreadsheet::WriteExcel; + +$| = 1; +my $dir = shift || "./"; +my $outdir = shift || "./"; +my $pat = shift || ""; +my $cwd = cwd(); +(my $runName = $cwd) =~ s/^.*\/(.*?)$/$1/; + +# QC +# Results +my @samples = (); +#open INDEX, ">$outdir/index.html"; +my $htmlHead = qq( + + + + + + +); +#print INDEX $htmlHead; +opendir DIR, "$dir"; +while (my $cd = readdir DIR) { + if ($cd =~ /(.*$pat)\.qc\.targets\.txt$/) { + my $sam = $1; +# next if ($sam =~ /R[12]/); + print STDERR $1 . "\n"; + push @samples, $1; + } +} +close DIR; + +#print INDEX ""; +#print INDEX ""; +#print INDEX "\n"; +#foreach my $sam (sort @samples) { +# print INDEX "\n"; + +#} +my %link = (); +my $excelBook0 = Spreadsheet::WriteExcel->new("$outdir/runQC.xls"); +my $excel0 = $excelBook0->add_worksheet("table1"); +my $excel0Ref = [[qw/sampleName runName totalReads pct100 ntbGenes/]]; + + +foreach my $sample (sort @samples) { + print STDERR "Processing $sample\n"; +# next if ($sample =~ /R[12]/); + + my $readCnt = 0; + my $amp100 = 0; + my %ntbGenes = (); + + open OUT, ">$outdir/$sample.html"; + open OUT2, ">$outdir/$sample.tsv"; + my $excelBook = Spreadsheet::WriteExcel->new("$outdir/$sample.xls"); + my $excel1 = $excelBook->add_worksheet("table1"); + my $excel2 = $excelBook->add_worksheet("table2"); + print OUT $htmlHead; + my %QC = (); + open QC, "<$dir/$sample.qc.targets.txt"; + readline QC; + print STDERR "Reading in $sample.qc.targets.txt\n"; + while () { + chomp; + my @row = split(/\t/, $_); + my @id = split(/[\_\.\-:]/, $row[0]); + $row[-1] = 0 if ($row[-1] eq "NA"); + $readCnt += $row[-1]; # DP + if ($#id != 10) { + $id[0] =~ /(\D+)(\d+)/; + $id[0] = $2; + unshift @id, $1; + } + + if ($row[-1] >= 100) { + $amp100++ + } + else { + $ntbGenes{$row[0]}{dp} = $row[-1]; + $ntbGenes{$row[0]}{id} = [@id]; + } + + $QC{$row[0]}{QC} = [@id, @row];# if ($id[0]); + foreach my $c ($row[4] .. $row[5]) { + $link{$id[-3] . ":" . $c}{$row[0]} = "Assay"; + } + foreach my $c ($row[2] .. $row[4], $row[5] .. $row[3]) { + $link{$id[-3] . ":" . $c}{$row[0]} = "LSO"; + } + } + close QC; + + open RES, "<$dir/$sample.res.filtered.tsv" or die "Unable to open $dir/$sample\n"; + my %uniq = (); + my $colCnt = 0; + my $resHead = readline(RES); + chomp $resHead; + $resHead =~ s/^#//; + $resHead =~ s/\s+$//; + my %resCol = map { $_ => $colCnt++ } split(/\t/, $resHead); + my @keyColsN = qw/QUAL Gene_Name Codon_Change Amino_Acid_change vaf DP AD Tag CHROM POS ID REF ALT Context Effect_Impact Functional_Class Amino_Acid_length Gene_Coding Transcript_ID Exon_Rank/; +# my @keyColsN = qw/CHROM POS ID REF ALT QUAL DP AD vaf Context Effect_Impact Functional_Class Codon_Change Amino_Acid_change Amino_Acid_length Gene_Name Coding Transcript Exon Tag/; + my @keyColsI = map { $resCol{$_} } @keyColsN; + foreach my $i (0 .. $#keyColsN) { + print STDERR join(":", $i, $keyColsN[$i], $keyColsI[$i]) . "\n"; + } + + print STDERR "Processing results\n"; + while () { + chomp; + my @row = split(/\t/, $_); + my $cpos = join(":", @row[0, 1]); + if (exists $link{$cpos}) { +# my $key = join(":", @row[0 .. 4,6, 9,10,11,12,14 .. 21]); + my $key = join(":", @row[@keyColsI]); + #print STDERR join(":", @keyColsI) . "\n"; +# print STDERR join(":", @row) . "\n"; sleep 1; + if (not exists($uniq{$key})) { + foreach my $locus (keys(%{$link{$cpos}})) { + next if ($link{$cpos}{$locus} eq "LSO"); + push @{$QC{$locus}{RES}}, [@row, $link{$cpos}{$locus}]; + # print STDERR "Adding $key to $locus\n\n"; #sleep 1; + } + $uniq{$key} = 0; + } + else { + # print STDERR $key . " : Exists\n\n"; #sleep 1; + } + } + } + close RES; + + ## Rplots that are not self-explanatory enough + #print OUT "

"; + #print OUT "

"; + + print OUT "

"; + #print OUT "

"; + print OUT "

Download:	runQC.xls
Sample	BAM	snp	indel	readCnt	Amp > 100
$sam	BAM	BAI

"; + print OUT "

Download:	TSV	XLS

"; + print OUT "\n"; +# my @colnames = qw/depth chr pos id ref var qual DP AD vaf context impact effectClass codonChange AAChange RefSeqLength geneName RefSeqClass RefSeqID Exon Tag/; + my @colnames = ("depth", @keyColsN); + print OUT "" . join("", map { "" } ("Amplicon", "c","c2", "b", @colnames)) . ""; + print OUT2 join("\t", "Amplicon", @colnames) . "\n"; + my $excelAref = [["Amplicon", @colnames]]; + my $excelAref2 = [[qw/gene exon protein vaf func depth /]]; + my %rescnt = (); + foreach my $locus (sort keys(%QC)) { + # my @targets = keys(%{$QC{$locus}{QC}}); +# print OUT ""; + my $nres = 1; + $nres = scalar(@{$QC{$locus}{RES}}) if ($QC{$locus}{RES}); + + print OUT "\n"; + print OUT "\n"; + print OUT "\n"; + print OUT "\n"; + print OUT "\n"; #\n"; + print OUT2 join("\t", $locus, $QC{$locus}{QC}->[-1], @{$res}[@keyColsI]) . "\n"; + push @$excelAref, [$locus, $QC{$locus}{QC}->[-1], @{$res}[@keyColsI]]; + + # qw/QUAL Gene_Name Codon_Change Amino_Acid_change vaf DP AD Tag CHROM POS ID REF ALT Context Effect_Impact Functional_Class Amino_Acid_length Coding Transcript Exon/; + push @$excelAref2, [map {$_ || "NA"} @{$res}[map { $resCol{$_} } (qw/Gene_Name Exon_Rank Amino_Acid_change vaf Functional_Class/)], $QC{$locus}{QC}->[-1]]; +# push @$excelAref2, [map {$_ || "NA"} @{$res}[[qw/Gene_Name Exon_Rank Cdna_change Amino_Acid_change vaf Functional_Class/]], $QC{$locus}{QC}->[-1]]; + my $pl = $res->[$keyColsI[7]]; + my $ref = $res->[$keyColsI[11]]; + my $var = $res->[$keyColsI[12]]; +# print STDERR "$pl $ref $var\n"; sleep 1; + if (length($ref) == length($var)) { + $rescnt{$pl . "snp"}++; + } + else { + $rescnt{$pl . "indel"}++; + } +# $rescnt++; + } + print STDERR $locus . ":" . $nres . "\n"; + print STDERR $locus . ":" . join("-", @{$QC{$locus}{RES}}) . "\n"; + if (scalar(@{$QC{$locus}{RES}}) == 0) { #$nres == 0) { + print OUT2 join("\t", $locus, $QC{$locus}{QC}->[-1], ("-") x scalar(@keyColsI)) . "\n"; + push @$excelAref, [$locus, $QC{$locus}{QC}->[-1], ("-") x scalar(@keyColsI)]; + } + print OUT "\n"; + } + print OUT "

$_
$locus	c	c2	b	$QC{$locus}{QC}->[-1]	"; + + foreach my $res (@{$QC{$locus}{RES}}) { + $res = [map {$_ \|\| ""} @$res]; + print OUT "	\n"; + print OUT join("	\n", @{$res}[@keyColsI]); + print OUT "

\n"; + print OUT "\n"; + close OUT; + close OUT2; + $excel1->write_col(0,0, $excelAref); + $excel2->write_col(0,0, $excelAref2); + $excelBook->close(); + my @resCnt = map { $rescnt{$_} || 0 } qw/Falcosnp Falcoindel/; + my $pctGood = sprintf("%.2f", $amp100 / scalar(keys(%QC)) * 100); + #print INDEX "$sample BAM$resCnt[0]$resCnt[1]$readCnt$pctGood\n"; + my $ntbsAmps = join(",", map { s/^(.*?)\.chr.*$/$1/; $_; } keys(%ntbGenes)); + push @{$excel0Ref}, [$sample, $runName, $readCnt, $pctGood, $ntbsAmps]; +} + +$excel0->write_col(0,0, $excel0Ref); +$excelBook0->close(); + +#print INDEX ""; +#print INDEX "

"; +#print INDEX "

"; +#print INDEX ""; +#close INDEX; + + diff -r e7de191375e6 -r 73eda23fb8fd falco/lib/perl/perAmpliconAnalysis.pl --- a/falco/lib/perl/perAmpliconAnalysis.pl Thu Jan 08 06:18:04 2015 -0500 +++ b/falco/lib/perl/perAmpliconAnalysis.pl Wed Feb 25 08:50:56 2015 -0500 @@ -89,11 +89,16 @@ open SAMH, "$samtools view -H $bam |"; while () { $stampy = 1 if (/PN:stampy/); - print STDERR "STAMPY SPOTTED!!!" if (/PN:stampy/); + if (/PN:stampy/) { + print STDERR "[WARNING]: Stampy aligned reads is no longer supported.\n"; + } + if (/SO:unsorted/) { + print STDERR "[Warning]: Alignments seem to be unsorted.\n"; + } } close SAMH; -open SAM, "$samtools view $bam |"; +open SAM, "$samtools view -F 4 $bam |"; while () { last unless (/^@/); } @@ -114,8 +119,9 @@ my $l = 0; my $cig = $row[5]; $cig =~ s/(\d+)[MD]/$l+=$1/eg; - - my $amp = $hash{$row[2]}{$row[3]}{$l} || next; + + # Check if alignment fits amplicon probes / primers. + my $amp = $hash{$row[2]}{$row[3]}{$l} || next; push @{$stats{$amp}{sam}}, [@row]; $stats{$amp}{depth}++; @@ -144,7 +150,6 @@ sub call { my $SAM = shift; - my $ppos = 0; my $pchr = ""; my %data = (); diff -r e7de191375e6 -r 73eda23fb8fd falco/lib/perl/qc2vcf.pl --- a/falco/lib/perl/qc2vcf.pl Thu Jan 08 06:18:04 2015 -0500 +++ b/falco/lib/perl/qc2vcf.pl Wed Feb 25 08:50:56 2015 -0500 @@ -1,14 +1,19 @@ #!/usr/bin/perl use strict; +use File::Basename; my $qc = shift; +my $base = shift || undef; + +unless ($base) { + $base = basename($qc, ".qc.ann.qual.filt.txt") +} my $minDp = 100; my $minVarDp = 5; my $minVaf = 0.01; -my $base = (split(/\//, $qc))[-1]; my $header = qq(##fileformat=VCFv4.1 ##FORMAT= ##FORMAT= diff -r e7de191375e6 -r 73eda23fb8fd falco/lib/perl/splitEff.pl --- /dev/null Thu Jan 01 00:00:00 1970 +0000 +++ b/falco/lib/perl/splitEff.pl Wed Feb 25 08:50:56 2015 -0500 @@ -0,0 +1,82 @@ +#!/usr/bin/perl -w +# +use strict; +my $file = shift; +my $tag = shift || "NoTag"; + +open F, "<$file"; +my $head = undef; +my %effIdx = (); +$effIdx{context} = 0; +while () { + if (/.*ID=EFF.*($.*$).*/) { + my $str = $1; +# print STDERR $str . "\n"; + $str =~ s/\[.*\]//g; +# print STDERR $str . "\n"; + $str =~ s/^$\s*(.*?)\s*$$/$1/; +# print STDERR $str . "\n"; + my $c = 1; + $effIdx{lc($_)} = $c++ foreach split(/\s*\|\s*/, $str); +# print STDERR join("\n", map { $_ . ":" . $effIdx{$_} } keys(%effIdx)) . "\n"; +# exit; + } + if (/#CHROM/) { + $head = $_; + last; + } + +} + +chomp $head; +my @hrow = split(/\t/, $head); +my $colN = 0; +#my %col = map { print STDERR "$_ => $colN\n";$_ => $colN++ } @hrow; +my %col = map { $_ => $colN++ } @hrow; +# Add AD column +# Convert DP4 for samtools file +my $ADName = (grep { /\_AD/ } keys(%col))[0]; +if (exists($col{DP4})) { + $ADName = "DP4"; +} +my $ADCol = $col{$ADName}; + +my $DPName = (grep { /\_DP/ } keys(%col))[0]; +if (exists($col{DP})) { + $DPName = "DP"; +} +my $DPCol = $col{$DPName}; + +#print STDERR $ADName . "\t" . $col{$ADName} . " $ADCol\n"; + +#Effect_Impact | Functional_Class | Codon_Change | Amino_Acid_change| Amino_Acid_length | Gene_Name | Gene_BioType | Coding | Transcript | Exon [ | ERRORS | WARNINGS ] ) +my @Col = qw/DP AD Context Effect_Impact Functional_Class Codon_Change Amino_Acid_change Amino_Acid_length Gene_Name Transcript_BioType Gene_Coding Transcript_ID Exon_Rank Tag/; + +my @effCol = map {lc} qw/Context Effect_Impact Functional_Class Codon_Change Amino_Acid_change Amino_Acid_length Gene_Name transcript_BioType Gene_Coding Transcript_ID Exon_Rank/; +my @effColOrd = map {$effIdx{$_}} @effCol; + +print join("\t", @hrow[0 ..5], @Col) . "\n"; #map { "eff$_" } 1 .. 10) . "\n"; +while () { + chomp; + my @row = split(/\t/, $_); + + if ($ADName eq "DP4") { + my @dp4row = split(/,/, $row[$ADCol]); +# print STDERR join(":", @dp4row) . "\n"; sleep 1; + $row[$ADCol] = ($dp4row[0] + $dp4row[1]) . "," . ($dp4row[2] + $dp4row[3]); + } + +# print $row[$col{EFF}] . "\n"; + my @effs = split(/,/, $row[$col{EFF}]); + foreach my $eff (@effs) { + $eff =~ s/\)$//; + my @effrow = split(/[\|]/, $eff, -1); + +# print STDERR scalar(@effrow) . " $eff\n"; +# print STDERR join(":", @effrow) . " $eff\n"; sleep 1; + print join("\t", @row[0 .. 5, $DPCol, $ADCol], @effrow[@effColOrd], $tag) . "\n"; + + } +} + +close F; diff -r e7de191375e6 -r 73eda23fb8fd falco/lib/perl/vcf2tsv.pl --- /dev/null Thu Jan 01 00:00:00 1970 +0000 +++ b/falco/lib/perl/vcf2tsv.pl Wed Feb 25 08:50:56 2015 -0500 @@ -0,0 +1,73 @@ +#!/usr/bin/perl -w + +use strict; + +my @vcfs = @ARGV; + +my @info = (); +my @format = (); +my $header = ""; + +foreach my $vcf (0 .. $#vcfs) { + open V, "<$vcfs[$vcf]"; + while () { + if (/^#CHROM/) { + if ($vcf == 0) { + chomp; + my @row = split(/\t/, $_); + print $header; + print join("\t", @row[0 .. 6], @info) . "\t"; + my @sampleRow = (); + foreach my $s (9 .. $#row) { +# print join("\t", map { "S$s" . "_$_" } @format) . "\n"; + push @sampleRow, map { $row[$s] . "_$_" } @format; + } + print join("\t", @sampleRow) . "\n"; + } + last; + } + if (/^##INFO/ && ($vcf == 0)) { + /ID=(.*?),/; + push @info, $1; + } + elsif (/^##FORMAT/ && ($vcf == 0)) { + /ID=(.*?),/; + push @format, $1; + } + $header .= $_; + } + + while () { + print join("\t", @{ &readTags(\$_) }) . "\n"; + } + close V; +} + +sub readTags { + my $line = shift; + chomp $$line; + my @row = split(/\t/, $$line); + my @res = (@row[0 .. 6]); + my @infoDat = split(/[;]/, $row[7]); + my @formatDat1 = split(/:/, $row[8]); + my %infoHsh = (); + foreach my $i (@infoDat) { + my @e = split(/=/, $i); + $infoHsh{$e[0]} = defined($e[1])?$e[1]:"1"; + } + + foreach my $t (0 .. $#info) { + push @res, defined($infoHsh{$info[$t]})?$infoHsh{$info[$t]}:"."; + } + + foreach my $s (9 .. $#row) { + my %formatHsh = (); + my @formatDat2 = split(/:/, $row[$s]); + $formatHsh{$formatDat1[$_]} = $formatDat2[$_] foreach (0 .. $#formatDat1); + + foreach my $i (0 .. $#format) { + push @res, defined($formatHsh{$format[$i]})?$formatHsh{$format[$i]}:"."; + } + } + return \@res; +} diff -r e7de191375e6 -r 73eda23fb8fd falco/ref/TSACP/canonicals.tsv --- /dev/null Thu Jan 01 00:00:00 1970 +0000 +++ b/falco/ref/TSACP/canonicals.tsv Wed Feb 25 08:50:56 2015 -0500 @@ -0,0 +1,48 @@ +RB1 NM_000321 +KIT NM_000222 NM_001093772 +FGFR3 NM_000142 NM_022965 NM_001163213 +GNAS NM_000516 NM_016592 NM_080425 NM_080426 NM_001077488 NM_001077489 NM_001077490 NR_003259 +NRAS NM_002524 +ERBB4 NM_005235 NM_001042599 +CDKN2A NM_000077 NM_058195 NM_058197 NM_001195132 +CDH1 NM_004360 +KRAS NM_033360 NM_004985 +VHL NM_000551 NM_198156 +CTNNB1 NM_001904 NM_001098209 NM_001098210 +BRAF NM_004333 +EGFR NM_005228 NM_201282 NM_201283 NM_201284 +AKT1 NM_005163 NM_001014431 NM_001014432 +JAK2 NM_004972 +NOTCH1 NM_017617 +SMARCB1 NM_003073 NM_001007468 +PDGFRA NM_006206 +SMO NM_005631 +SRC NM_005417 NM_198291 +FBXW7 NM_018315 NM_033632 NM_001013415 NM_001257069 +FGFR1 NM_015850 NM_023105 NM_023106 NM_023110 NM_001174063 NM_001174064 NM_001174065 NM_001174066 NM_001174067 +MET NM_000245 NM_001127500 +MPL NM_005373 +GNAQ NM_002072 +GNA11 NM_002067 +CSF1R NM_005211 +MLH1 NM_000249 NM_001167617 NM_001167618 NM_001167619 +KDR NM_002253 +ABL1 NM_005157 NM_007313 +PIK3CA NM_006218 +HRAS NM_005343 NM_176795 NM_001130442 +FLT3 NM_004119 +ALK NM_004304 +TP53 NM_000546 NM_001126112 NM_001126113 NM_001126114 NM_001126115 NM_001126116 NM_001126117 NM_001126118 +PTEN NM_000314 +JAK3 NM_000215 +IDH1 NM_005896 +PTPN11 NM_002834 +RET NM_020630 NM_020975 +ATM NM_000051 +HNF1A NM_000545 +FGFR2 NM_000141 NM_022970 NM_001144913 NM_001144914 NM_001144915 NM_001144916 NM_001144917 NM_001144918 NM_001144919 +APC NM_000038 NM_001127510 NM_001127511 +ERBB2 NM_004448 NM_001005862 +SMAD4 NM_005359 +STK11 NM_000455 +NPM1 NM_002520 NM_199185 NM_001037738 diff -r e7de191375e6 -r 73eda23fb8fd falco/ref/filters/CosmicCodingMuts_v64_26032013_noLimit_wgs.f.vcf --- /dev/null Thu Jan 01 00:00:00 1970 +0000 +++ b/falco/ref/filters/CosmicCodingMuts_v64_26032013_noLimit_wgs.f.vcf Wed Feb 25 08:50:56 2015 -0500 @@ -0,0 +1,3210 @@ +##fileformat=VCFv4.1 +##source=COSMICv64 +##reference=GRCh37 +##fileDate=20130327 +##comment="Missing nucleotide details indicate ambiguity during curation process" +##comment="URL stub for COSM ID field='http://www.sanger.ac.uk/cgi-bin/genetics/CGP/directive?id='" +##comment="REF and ALT sequences are both forward strand +##INFO= +##INFO= +##INFO= +##INFO= +##INFO= +#CHROM POS ID REF ALT QUAL FILTER INFO +1 115256508 COSM43344 C G . . GENE=NRAS;STRAND=-;CDS=c.203G>C;AA=p.R68T;CNT=1 +1 115256528 COSM586 T G . . GENE=NRAS;STRAND=-;CDS=c.183A>C;AA=p.Q61H;CNT=3 +1 115256528 COSM585 T A . . GENE=NRAS;STRAND=-;CDS=c.183A>T;AA=p.Q61H;CNT=4 +1 115256529 COSM582 T G . . GENE=NRAS;STRAND=-;CDS=c.182A>C;AA=p.Q61P;CNT=2 +1 115256529 COSM583 T A . . GENE=NRAS;STRAND=-;CDS=c.182A>T;AA=p.Q61L;CNT=9 +1 115256529 COSM584 T C . . GENE=NRAS;STRAND=-;CDS=c.182A>G;AA=p.Q61R;CNT=25 +1 115256529 COSM221918 TGT TTG . . GENE=NRAS;STRAND=-;CDS=c.180_181AC>CA;AA=p.G60>?;CNT=1 +1 115256530 COSM580 G T . . GENE=NRAS;STRAND=-;CDS=c.181C>A;AA=p.Q61K;CNT=22 +1 115256562 COSM222543 G A . . GENE=NRAS;STRAND=-;CDS=c.149C>T;AA=p.T50I;CNT=2 +1 115256591 COSM675199 G T . . GENE=NRAS;STRAND=-;CDS=c.120C>A;AA=p.Y40*;CNT=1 +1 115258712 COSM212982 T G . . GENE=NRAS;STRAND=-;CDS=c.70A>C;AA=p.I24L;CNT=1 +1 115258718 COSM1167956 G T . . GENE=NRAS;STRAND=-;CDS=c.64C>A;AA=p.Q22K;CNT=1 +1 115258744 COSM574 C A . . GENE=NRAS;STRAND=-;CDS=c.38G>T;AA=p.G13V;CNT=1 +1 115258744 COSM573 C T . . GENE=NRAS;STRAND=-;CDS=c.38G>A;AA=p.G13D;CNT=3 +1 115258745 COSM569 C G . . GENE=NRAS;STRAND=-;CDS=c.37G>C;AA=p.G13R;CNT=3 +1 115258747 COSM564 C T . . GENE=NRAS;STRAND=-;CDS=c.35G>A;AA=p.G12D;CNT=9 +1 115258747 COSM566 C A . . GENE=NRAS;STRAND=-;CDS=c.35G>T;AA=p.G12V;CNT=1 +1 115258747 COSM565 C G . . GENE=NRAS;STRAND=-;CDS=c.35G>C;AA=p.G12A;CNT=2 +1 115258748 COSM562 C A . . GENE=NRAS;STRAND=-;CDS=c.34G>T;AA=p.G12C;CNT=5 +1 115258748 COSM563 C T . . GENE=NRAS;STRAND=-;CDS=c.34G>A;AA=p.G12S;CNT=2 +10 43609932 COSM538678 A G . . GENE=RET;STRAND=+;CDS=c.1884A>G;AA=p.P628P;CNT=1 +10 43609955 COSM72408 C T . . GENE=RET;STRAND=+;CDS=c.1907C>T;AA=p.T636M;CNT=1 +10 43609990 COSM1223553 G A . . GENE=RET;STRAND=+;CDS=c.1942G>A;AA=p.V648I;CNT=1 +10 43609995 COSM343849 G T . . GENE=RET;STRAND=+;CDS=c.1947G>T;AA=p.S649S;CNT=1 +10 43610062 COSM918117 G T . . GENE=RET;STRAND=+;CDS=c.2014G>T;AA=p.A672S;CNT=1 +10 43613825 COSM918121 C T . . GENE=RET;STRAND=+;CDS=c.2289C>T;AA=p.N763N;CNT=1 +10 43613844 COSM272178 C T . . GENE=RET;STRAND=+;CDS=c.2308C>T;AA=p.R770*;CNT=1 +10 43613905 COSM343401 T A . . GENE=RET;STRAND=+;CDS=c.2369T>A;AA=p.L790*;CNT=1 +10 43613908 COSM1159820 A T . . GENE=RET;STRAND=+;CDS=c.2372A>T;AA=p.Y791F;CNT=1 +10 43615538 COSM225294 C T . . GENE=RET;STRAND=+;CDS=c.2617C>T;AA=p.R873W;CNT=2 +10 43615593 COSM538676 C A . . GENE=RET;STRAND=+;CDS=c.2672C>A;AA=p.S891*;CNT=1 +10 43617398 COSM188545 G T . . GENE=RET;STRAND=+;CDS=c.2735G>T;AA=p.R912L;CNT=1 +10 89624234 COSM87309 C A . . GENE=PTEN;STRAND=+;CDS=c.8C>A;AA=p.A3D;CNT=1 +10 89624245 COSM5298 G T . . GENE=PTEN;STRAND=+;CDS=c.19G>T;AA=p.E7*;CNT=1 +10 89624266 COSM5101 A G . . GENE=PTEN;STRAND=+;CDS=c.40A>G;AA=p.R14G;CNT=1 +10 89624267 COSM284348 G T . . GENE=PTEN;STRAND=+;CDS=c.41G>T;AA=p.R14M;CNT=1 +10 89624269 COSM1159817 A G . . GENE=PTEN;STRAND=+;CDS=c.43A>G;AA=p.R15G;CNT=1 +10 89624270 COSM214443 GAT G . . GENE=PTEN;STRAND=+;CDS=c.45_46delAT;AA=p.Y16fs*27;CNT=1 +10 89624274 COSM346197 T C . . GENE=PTEN;STRAND=+;CDS=c.48T>C;AA=p.Y16Y;CNT=1 +10 89624274 COSM921056 T G . . GENE=PTEN;STRAND=+;CDS=c.48T>G;AA=p.Y16*;CNT=1 +10 89624275 COSM5153 C T . . GENE=PTEN;STRAND=+;CDS=c.49C>T;AA=p.Q17*;CNT=2 +10 89624305 COSM163810 T G . . GENE=PTEN;STRAND=+;CDS=c.79T>G;AA=p.Y27D;CNT=2 +10 89685281 COSM685105 C G . . GENE=PTEN;STRAND=+;CDS=c.176C>G;AA=p.S59*;CNT=1 +10 89685287 COSM5042 A G . . GENE=PTEN;STRAND=+;CDS=c.182A>G;AA=p.H61R;CNT=1 +10 89685303 COSM5191 G T . . GENE=PTEN;STRAND=+;CDS=c.198G>T;AA=p.K66N;CNT=1 +10 89685305 COSM921071 T C . . GENE=PTEN;STRAND=+;CDS=c.200T>C;AA=p.I67T;CNT=1 +10 89685307 COSM249839 T A . . GENE=PTEN;STRAND=+;CDS=c.202T>A;AA=p.Y68N;CNT=1 +10 89685314 COSM1162066 TG T . . GENE=PTEN;STRAND=+;CDS=c.209+1delg;AA=p.?;CNT=1 +10 89711873 COSM5963 A G . . GENE=PTEN;STRAND=+;CDS=c.493-2A>G;AA=p.?;CNT=1 +10 89711874 COSM5961 G A . . GENE=PTEN;STRAND=+;CDS=c.493-1G>A;AA=p.?;CNT=1 +10 89711874 COSM14213 GGGAGTAACTATTCCCAGTCAGAGGCGCTATGTGTATTATTATAGCTACCTGTTAAAGAATCATCTGGATTATAGACCAGTGGCACTGTTGTTTCACAAGATGATGTTTGAAACTATTCCAATGTTCAGTGGCGGAACTTGCA G . . GENE=PTEN;STRAND=+;CDS=c.493_634del142;AA=p.?;CNT=1 +10 89711875 COSM5091 G A . . GENE=PTEN;STRAND=+;CDS=c.493G>A;AA=p.G165R;CNT=3 +10 89711876 COSM5114 G A . . GENE=PTEN;STRAND=+;CDS=c.494G>A;AA=p.G165E;CNT=2 +10 89711877 COSM314554 A T . . GENE=PTEN;STRAND=+;CDS=c.495A>T;AA=p.G165G;CNT=1 +10 89711884 COSM1192818 AT A . . GENE=PTEN;STRAND=+;CDS=c.503delT;AA=p.S170fs*13;CNT=1 +10 89711891 COSM5045 G A . . GENE=PTEN;STRAND=+;CDS=c.509G>A;AA=p.S170N;CNT=2 +10 89711893 COSM685103 C A . . GENE=PTEN;STRAND=+;CDS=c.511C>A;AA=p.Q171K;CNT=1 +10 89711898 COSM297456 G A . . GENE=PTEN;STRAND=+;CDS=c.516G>A;AA=p.R172R;CNT=1 +10 89711899 COSM5089 C T . . GENE=PTEN;STRAND=+;CDS=c.517C>T;AA=p.R173C;CNT=1 +10 89711900 COSM5039 G A . . GENE=PTEN;STRAND=+;CDS=c.518G>A;AA=p.R173H;CNT=1 +10 89711905 COSM76106 G T . . GENE=PTEN;STRAND=+;CDS=c.523G>T;AA=p.V175L;CNT=1 +10 89711913 COSM13116 T A . . GENE=PTEN;STRAND=+;CDS=c.531T>A;AA=p.Y177*;CNT=1 +10 89711935 COSM216385 C G . . GENE=PTEN;STRAND=+;CDS=c.553C>G;AA=p.H185D;CNT=1 +10 89712017 COSM5968 G T . . GENE=PTEN;STRAND=+;CDS=c.634+1G>T;AA=p.?;CNT=1 +10 89712018 COSM428086 T C . . GENE=PTEN;STRAND=+;CDS=c.634+2T>C;AA=p.?;CNT=1 +10 89717607 COSM1167768 CAGATCCTCAGTTT C . . GENE=PTEN;STRAND=+;CDS=c.635-2_645delagATCCTCAGTTT;AA=p.?;CNT=1 +10 89717609 COSM28920 G A . . GENE=PTEN;STRAND=+;CDS=c.635-1G>A;AA=p.?;CNT=2 +10 89717609 COSM5971 G T . . GENE=PTEN;STRAND=+;CDS=c.635-1G>T;AA=p.?;CNT=1 +10 89717609 COSM921121 G C . . GENE=PTEN;STRAND=+;CDS=c.635-1G>C;AA=p.?;CNT=1 +10 89717609 COSM26624 GATCCTCAGTTTGTGGTCTGCCAGCTAAAGGTGAAGATATATTCCTCCAATTCAGGACCCACACGACGGGAAGACAAGTTCATGTACTTTGAGTTCCCTCAGCCGTTACCTGTGTGTGGTGATATCAAAGTAGAGTTCTTCCACAAACAGAACAAGATGCTAAAAAAGGTTTGTACTTTACTTTCATTGGGAGAAATATCCAAAATAAGGACAGATTAAAAGCTATATTTTATTTTATGACATGTAAGGAACTATAATTTGTTTTCTATTAGATCTGCAGGTGTTTTGCTTACTCTGGCATTGGTGAGACATTATAAGGGTAAATAATCCTGTTTGAAGGAAAAGGCCTTATGGCATTGTAACATGAGAGGAATTTTTCTTAACAAGGATGGTTAACTGAGAAGAAATTAGCATGGGACCAATATTTTAAAAATTTTGGTCTATAGGTAGAAATGAGATCTGTTCTGTGGTCTTATGTAGTGACACAAACCACTTTTTCTCCATTTTGGCTTATGTTTCTTTTTCTTTCCTTTTTTTTTTTTTTCCTTTTTGTTAGAGACAGGGTCTTGTTCTATTGCCCAGGCTGAGTAGCTAAGACTACAAGCATGTGCCACCACACCCAGCTAATTTTTTTTATTTTTATTTTTGTAGGGACAGGGTCTCACTATGTTGCCCAGGCTGGTCTCAAACTCCTGGGCACAAGCAGTCCTCACGCTTTGGCATCCCAAAGAGTTGGAATTACAGGTGTGCGCCATCATGCCTGGCCTTAACGTTTCTTAAGACTTGATTATTTTCTATTTAGCTTCTGTGGATTTACTGATTAATTTTTTAACTAGGAGAGAAATCAGTATGAAGAGGAAGTAATAAAGAATGAAAACATGGTATTTAAATGTGCAGGTTTAGAAAGTTAATGAAGTTTGAATTTGATTGATCTGTATTTAGAGAAGGCAACGTCTTATTATTTTAAAACCAACTATCCGCCCTGTGCGGTGGCTCACGCCTGTAATTCCAGCACTTTGGGAGGCTGAGGTGGGCAGATCAGCTGAGGTCAGGAGTTCGAGACCAGCCTGGCCAACATGGTTAAACCCCATCTCTACTAAAAATACAAAAAAATTAGCCGGGTGTGGTGGCAGGCGCCTGTTTTCCCAGCTACTCAGGAGGCTTGAGGCAGGATAATTGCTGAACCCGAGAGGCGGAGGTTGCAGTAAGCCAAGAATGCACCATTGTACTCCAGCCTGGGCAACAAGAGTGAAACTCCATCTCAAAAAAAAAGAAAAAAAAAACAACAACTATCTTCATTTAAAATATTAAATGTGAATATTTAAAGTGAGACTAAGGTGCAACATTTTTAGATAGTAATGAAGAAAAGGACTAACTTTGTAGTGTTGCTGCCTTGTTAAACATACTAGATAGCATATTGCCAATCTTTAAACATTCTCAATGATAGGATTTATTTACTTTTTCTGATTTTTAGCTTTTCTTTTGAAAGAAAATAAGAGGAAGTTTCATTTACTGCAAAATTTTAAATGCTGCTTTGATGTATCAGTAGAGATATAATTTTCCTTTATCCAGAATCCAAGTAGCTGGAAAAAAAAATCAAAATATGCTGAACTTTTTTTTTTTTAGCCAGAAACCCATTTCCTATCGTCTGTACAAATAAAAGTTAAATATATCTCAATAACTTAGAAAAATTATTTTTTGATAATCCAGGAAGTATTAGCAACTGTTTTAAAATTAAGATAACTAGTAAGTTTTATTTAGCTTTCAAAAATAGGCATCTACATCATCATCTCTGCATACCTTTAGGAATTTCCTAATTCTTATTTCCCTTCATCTGTACTTTAACACATGCAAAATTGAAGGTTAGATTAAATATTTATGATTTATTTGTTTATCCTTGACTACATAAATTTCCATTTTATTGATTTTCCCTGCCTTATTTAAGAATATGCTATGATTAAAACACAAAAAATTTTAGTATAACCCATATATATATAGAATTCACCTTTTTGTTATTTAAATATTATTGGCTTATTTTCTTCTAAGTAAAATACAATTACTGGCTAAAATAATTGAAATAAGCAAAAAAAAAATTTTAAAGACCTTGTATACAAGATTACTTTGCCAGGTACTGTTAAAAGATGCAATGACATTTAAGACGTAACATCCTTAAGGATCTTATTTTCTGGGGGATAAAAAACTTTAAGATAAATTAGAATAAAAGATTTAAATGGCATTTTAAGGTACCAGGTACCAGATAAGATGTCACAAGGCTGTATATCATTAATTGCCAAATGATTTATACAGGCCAGATTTCTTTGTTGGTCAATAGAGGTTTAAAGTGATGAACTTCTGTTGTGTTTTTTTATTAAGAAGGTATTATCTTATTAGTAAGAAGTGATTTTTTTTAAGAACAAGCATTTTATAACATCAAAAGAAATCAGTAGTACTCTTTCCTACCCCCTCATATTTATTCTGAAAGTATTCAAGCATTATATTGTCATGTAAGAAACTGGAGCTTCTCATGTTTGTATTGCTGTAGAAGTAAACATGTATTTGCCATGCGTCATCAGGGAAGTTGCACTCACCGTCCAAGAACTTTTGTTAAAGTAAATCTTGGAATAGGTAGCTCATTTGAAATGTAGAAAAAATTAAATCCATATCTGAATTTTGTTTATATGTATGTACACGTAAACTAAAAACGTATTTAAAGCTAGTATTAGATGAGAAAAGAGGTTTTTTTACTTAAAATTTTAAGGCAAAAGTAGTTTATCTTAGATCTTGTGAGATTGTATTTTTGGTTTAAAATTTGAGAATTTGAGTGAAGAAAAATCATGTGAATGAAAATGCAACAGATAACTCAGATTGCCTTATAATAGTCTTTGTGTTTACCTTTATTCAGAATATCAAATGATAGTTTATTTTGTTGACTTTTTGCAAATGTTTAACATAGGTGACAGATTTTCTTTTTTAAAAAAATAAAACATCATTAATTAAATATGTCATTTCATTTCTTTTTCTTTTCTTTTTTTTTTTTTTTAGGACAAAATGTTTCACTTTTGGGTAAATACATTCTTCATACCAGGACCAGAGGAAACCTCAGAAAAAGTAGAAAATGGAAGTCTATGTGATCAAGAAATCGATAGCATTTGCAGTATAGAGCGTGCAGATAATGACAAGGAATATCTAGTACTTACTTTAACAAAAAATGATCTTGACAAAGCAAATAAAGACAAAGCCAACCGATACTTTTCTCCAAATTTTAAGGTCAGTTAAATTAAACATTTTGTGGGGGTTGTTGACTTGTATGTATGTGATGTGTGTTTAATTCTAGGAGTACAGCTGATGAAGAACTTGCTTGACAAGTTTTTAACTTATGTATTATTTCGAAGCAGTGTTTACGTAGCAGTAACATGAAAGTTTCTAATAAAATACCCAATGTACACAGCGTCAAAAAAGCTGCATTTTTCCTTTTCCTAATTCTTCGTTGTTTGCTGAAATCTGGGGCAAAGGTGCGGGAGGGGGCTAAATGACTGGGATATGAAGTAGGAATGGGAGAGGAAAGAAATAGATGGGAACTCAGTCATTTGGGAATGATTCATATGGAATGTTTTTACTGCTTCCACTCCTGTCTGCCTTCCAATTTATTCTCAATCCCTCAGAGTGATCTTAAAAATAGACTTGATTGTGTCACTTCTGTTTACACTTTATAAGGACCTTGTGTTTTTTTTTTTACCATGACCTACAAGGCCCAGCATAATTTAGCACAGGGCTACCTCCTACATCAGCACTAGTCACCTTCTCTCCTTGTTTCTTGAGATTCAGTCATACTGGTCTTTCTTCAGTTCTTCAAAATGCTAAGCTTCTGCCTCTTCTAGTCTTTCCAGTTATTTTCCTTCTCCCTGTACCTTTTCATCTCAGCCTTTTCCCCTGACCTTCCATAGCTATCTTCATATTTCCAGCCTTAGCTTCAATCTCATATTCTCTGAAGTCCTTTGATTGTCCTCCCGTTATTCTTTTTTTAAAAATCCTATTTCCTTATATTGTATCTTAGAATTATTTGGTTTGTTTCATTTTTGCCTATGTGTGATATATGTATTTCTACATAGGTATATATATCTACTTATAGACAAGAATTCTTCAGATTAAAAAAATCTGATTTGTAAACATTCCCAAGTGGTTGTTTACCATTTTTTTCTTCCCCCTTCCTATTTCTTATTCTACCTGATTTTCCCCTGTTCATTCACCACACTCGTTTCTTTCTCTTTTTTACTCTCTCTTAATTTTTCATTCAATTTTTATAACATGTAATAAATCTAACTGTAGCGTCTGAGTATTAAGAATATTGCTAGTAATACTTCACCTGTAATCCCAGCACTTTGGGAGGCTAAGGCAGGCGGATCACTTGAGGCCCAGGAGTTTAAGACCAGCCGGCCAATATGGCGAAACCCTATCTGCACTACAAATACAAAAATTAGCTGGGCATGGTGTCGCACACCTGTAATCCCAGCTACTTGGGAGGCTGAGGCACAAGAATTGCTTGAGCCTGTGAGATGGAGGTTGCAGTGAGCCGAGATCACACCAGTGCACGTGCACTTCAGCCTGGGCAACAGAGCAAGACTCTGTCTTAAAAAAAAAAAAAAAAAAAAAATATATACACACACACACACACACACACACACACACACACACTATTACTACCAATATACATACATATATGTATGTATGTATGTATGTATATTGGTAGTAATAGTAATACTTGGGCCCCTGCACGTTTTAAGTGAAAATAGATCTAATATTAAATGTCTTTAGCCCTTAAATTTTTTTTAAGTGTTCAGAAGTTTCCCTTTAAAAAAATTTTTAATATATAATAATTGTACATATTTATGGGATACAGAGTGATATTTTCATGTATGCAGTGTGTGATGATCAAATCAGGATAATTAGCATATGGATCACCTCAAACATTTGTCATTTCTTTGTGTTAGGAACATTCAAAATTCTGTCTTCTAGCTATTTGAAAATATACAGTAAATTATTGTTGACTAGTTACAGTTCTATAGAACACTATAATTTATTCCTCCTGTGTGTAATTTTTTATCTTTTAACCAACATCTCCCTATCCTCCCCTCCCACTCCCTTTCCCGGCCTCTAATAACCACACTCTTATGAGCTCAACTTTTTTAGCTTCCATATATGAGTGAGAACATACGGTATTTATCTTTCTGTACCTGACTTATTTTACTTAACATCATGTCCTCCGGGCTAGACATTCTCTTTAGAATCCACAGGTTTCCTTTCTTTTCTCTAAATCTGCATTTTGCTCAGCCATTAACTTTTAAAATGTCTTTTTCCCTTTAGTTTTATTGTTTTCTATTTTAATATTGCAAGATGTTTTATATTTGTGATTACAAATAAAAACTCCATTATTAGTAAACAAATACAATGTCATATAGTAGTAAGTGCTATAAAAAATAGACAGGATAGAAAGTAATCTTGGTTTGTATGTTTTTTGTTTTTTAGCAAAGATGATTAGAGAAGGCCCAACCAAGCAGATAACATTTAAGCAGAGGCCTAAATCATATAAGTGAGTTATACAAATATCTGGGAAAAGAGTTAAGAGTACAGATGCAAAAGCCCTTAGACAAGAGAATGAGCTTGGTATATCTGAAGAGTGGATAAGTCATTTTGACTGAAACAGAGTGGACAAGAAAACCAGTCCAAGTGTAAAGACACTAGTGTGTGTTCAGCATAGGAAGGATGTAATCTGAATTTTGTGTTTAATATTCCCTGTGTTCATGCTTTCAAAATACAGATGAGTGAGGAAAGTAGGGAGAAGGGGTAATAAAGGAAGCTGAGAGATCAGTTAAGAGGTACTTGAATAGTTTAGTAAAGATGAGAGAAGATGTTTGCTTCTTGTTGCCCCTCACTGCTTAGAATAGTGGCAGTGAAGGGTAACAAGAAGCTGTCAGATTAACTTAAAGAGTTTACTGATGCAGTGGATGTTGGTTGTAAGAGAAGAATTGATAATGACTCTTGGATAATAGGGGAGGGAGGGGCTGTCAATATAATATAATGAAGAAGGGATTTGAAGTCATTTCTGATTTAAATCTCACATCCACTACCTACTTTTAATAGATATGTAGCCTTTAACAAGTTCCCTAACCTTTCTGGGCCTTAGCTACCTCCCCTTGGAAATGGAAATACCTAACATGTAAGGTTGTTTTGACAGTTATTTTCACTAGGCATGTAAAGGCACTTGACTCTCTGTTATAGACCACTGTATTATGTTAATGTCCCTCTCCTTCCTCCCTTTAGGTAAAGTTTTTAGGGCTAATAAATCCCAAATATCAATGTTGATCAGTAGTTTGTGTTTGTGTAGTGTTGTTTATATCAAAAACTACATTGAAGCCGGGCACAGTGGTTCACGCCTAAAATCGCAACACTTTGGGAGGCCAAGGTGGGCCTCCCACCTTGAACTAAGGAGTTTGAGACCAGCCTGGGCAACATGGTGAAATCCCATCTCTACAAAAAATATAAAAGCTAGCTGGGTGTGGTGGCATGCACCTGTAGTCCTAGCTACTTGGGAGGCTGAGGTTGATCCTGGGAGTTTGAGCCTGCAGTGAGCTGTGAAGATGCCACTGCACTCTAGTCTGGGTGACAGAGCAAGACCCTGTCTCAAAAACACACACACACACACACACACACACAAAGAAATACATTGATTTTTCACATAGGTAGTAAGAGAAACATTCTTTTTGAACTCAGCTGTTTGTGAATTGAATTTTGTAATTCAAATGCTATATTATGTAAACTATTGATGACTTTCAATCTGCATTTATTTTGTATAATTATTTAGTTAATATTTGCCACTTATATTCCTTAAAAAATAAAATTGAGGTTGGGCGTGGTGGCTCACACTTGTAATCCCAGCACTTTGGGAGGCTGAGGCAGGCAGATTGCCTGAGCTCAGGAGTTTGAGATCAGCCTGGGCAACATCATGAACCCCATTTCTACTAAAATACAAAAAATTATCTGGGCATGGTGGTGTACACCTGTAGCCCTAGCTGTTTGGGAGGCTAAGGCACGAGAATTGCTTGAACCCGGGAGGCAGAGGTTGCAGTGAGCCAAGATCATGCCACTGCACTCCAGCTTGGCAACAGAGCAAGACTCTTGTCTCCAGAAATAAAAATAAATAAATTGTATTAACATCCTGATAGTTTATCTGTTTAGTACCTAGCAAGAAAGAAAATGTTGAACATCTTAAGAAGAGGGTCATTTAAAAGGCCTCTTAAAGATCATGTTTGTTACAGTGCTTAAAAATTAATATGTTCATCTGCAAAATGGAATAAAAAATCTGTTAAAAATATATTTCACTAAATAGTTTAAGATGAGTCATATTTGTGGGTTTTCATTTTAAATTTTCTTTCTCTAGGTGAAGCTGTACTTCACAAAAACAGTAGAGGAGCCGTCAAATCCAGAGGCTAGCAGTTCAACTTCTGTAACACCAGATGTTAGTGACAATGAACCTGATCATTATAGATATTCTGACACCACTGACTCTGATCCAGAGAATGAACCTTTTGATGAAGATCAGCATACACAAATTACAAAAGTCTGA G . . GENE=PTEN;STRAND=+;CDS=c.635_1212del578;AA=p.N212fs*1;CNT=1 +10 89717613 COSM241294 C G . . GENE=PTEN;STRAND=+;CDS=c.638C>G;AA=p.P213R;CNT=1 +10 89717615 COSM5150 C T . . GENE=PTEN;STRAND=+;CDS=c.640C>T;AA=p.Q214*;CNT=2 +10 89717619 COSM212632 T C . . GENE=PTEN;STRAND=+;CDS=c.644T>C;AA=p.F215S;CNT=1 +10 89717625 COSM1159818 T A . . GENE=PTEN;STRAND=+;CDS=c.650T>A;AA=p.V217D;CNT=1 +10 89717671 COSM69004 AC A . . GENE=PTEN;STRAND=+;CDS=c.697delC;AA=p.R233fs*23;CNT=1 +10 89717672 COSM5154 C T . . GENE=PTEN;STRAND=+;CDS=c.697C>T;AA=p.R233*;CNT=14 +10 89717676 COSM540238 G T . . GENE=PTEN;STRAND=+;CDS=c.701G>T;AA=p.R234L;CNT=2 +10 89717678 COSM5292 G T . . GENE=PTEN;STRAND=+;CDS=c.703G>T;AA=p.E235*;CNT=1 +10 89717695 COSM921125 C G . . GENE=PTEN;STRAND=+;CDS=c.720C>G;AA=p.Y240*;CNT=1 +10 89717697 COSM5126 T C . . GENE=PTEN;STRAND=+;CDS=c.722T>C;AA=p.F241S;CNT=1 +10 89717708 COSM5159 C T . . GENE=PTEN;STRAND=+;CDS=c.733C>T;AA=p.Q245*;CNT=2 +10 89717712 COSM5111 C T . . GENE=PTEN;STRAND=+;CDS=c.737C>T;AA=p.P246L;CNT=1 +10 89717712 COSM1167796 C CGTAA . . GENE=PTEN;STRAND=+;CDS=c.737_738insGTAA;AA=p.L247fs*1;CNT=1 +10 89717712 COSM5822 CG C . . GENE=PTEN;STRAND=+;CDS=c.738delG;AA=p.P246fs*10;CNT=1 +10 89717716 COSM685102 A C . . GENE=PTEN;STRAND=+;CDS=c.741A>C;AA=p.L247F;CNT=1 +10 89717718 COSM685101 C A . . GENE=PTEN;STRAND=+;CDS=c.743C>A;AA=p.P248H;CNT=1 +10 89717718 COSM166165 CTG C . . GENE=PTEN;STRAND=+;CDS=c.744_745delTG;AA=p.C250fs*2;CNT=1 +10 89717721 COSM921128 T A . . GENE=PTEN;STRAND=+;CDS=c.746T>A;AA=p.V249E;CNT=1 +10 89717727 COSM13981 G A . . GENE=PTEN;STRAND=+;CDS=c.752G>A;AA=p.G251D;CNT=2 +10 89717729 COSM5246 G T . . GENE=PTEN;STRAND=+;CDS=c.754G>T;AA=p.D252Y;CNT=2 +10 89717739 COSM921130 T G . . GENE=PTEN;STRAND=+;CDS=c.764T>G;AA=p.V255G;CNT=1 +10 89717762 COSM43075 A T . . GENE=PTEN;STRAND=+;CDS=c.787A>T;AA=p.K263*;CNT=1 +10 89717778 COSM921136 T C . . GENE=PTEN;STRAND=+;CDS=c.801+2T>C;AA=p.?;CNT=1 +10 89720726 COSM5303 G T . . GENE=PTEN;STRAND=+;CDS=c.877G>T;AA=p.G293*;CNT=1 +10 89720741 COSM5156 C T . . GENE=PTEN;STRAND=+;CDS=c.892C>T;AA=p.Q298*;CNT=3 +10 89720744 COSM5312 G T . . GENE=PTEN;STRAND=+;CDS=c.895G>T;AA=p.E299*;CNT=1 +10 89720798 COSM39615 GTACT G . . GENE=PTEN;STRAND=+;CDS=c.950_953delTACT;AA=p.L318fs*2;CNT=3 +10 89720808 COSM35671 T A . . GENE=PTEN;STRAND=+;CDS=c.959T>A;AA=p.L320*;CNT=1 +10 89720817 COSM4990 A AA . . GENE=PTEN;STRAND=+;CDS=c.968_969insA;AA=p.N323fs*2;CNT=1 +10 89720823 COSM921154 T G . . GENE=PTEN;STRAND=+;CDS=c.974T>G;AA=p.L325R;CNT=1 +10 89720826 COSM5128 A G . . GENE=PTEN;STRAND=+;CDS=c.977A>G;AA=p.D326G;CNT=1 +10 89720852 COSM921156 C G . . GENE=PTEN;STRAND=+;CDS=c.1003C>G;AA=p.R335G;CNT=1 +10 89720852 COSM5151 C T . . GENE=PTEN;STRAND=+;CDS=c.1003C>T;AA=p.R335*;CNT=3 +10 89720857 COSM5290 C G . . GENE=PTEN;STRAND=+;CDS=c.1008C>G;AA=p.Y336*;CNT=2 +10 89720875 COSM921159 G T . . GENE=PTEN;STRAND=+;CDS=c.1026G>T;AA=p.K342N;CNT=1 +10 89720876 COSM5978 G A . . GENE=PTEN;STRAND=+;CDS=c.1026+1G>A;AA=p.?;CNT=1 +10 123258030 COSM174658 G T . . GENE=FGFR2_ENST00000357555;STRAND=-;CDS=c.1384C>A;AA=p.L462I;CNT=1 +10 123258030 COSM174657 G T . . GENE=FGFR2;STRAND=-;CDS=c.1651C>A;AA=p.L551I;CNT=1 +10 123258034 COSM427158 A T . . GENE=FGFR2_ENST00000357555;STRAND=-;CDS=c.1380T>A;AA=p.N460K;CNT=4 +10 123258034 COSM427159 A T . . GENE=FGFR2_ENST00000351936;STRAND=-;CDS=c.1641T>A;AA=p.N547K;CNT=4 +10 123258034 COSM1152148 A T . . GENE=FGFR2_ENST00000457416;STRAND=-;CDS=c.1650T>A;AA=p.N550K;CNT=4 +10 123258034 COSM36912 A T . . GENE=FGFR2;STRAND=-;CDS=c.1647T>A;AA=p.N549K;CNT=4 +10 123258070 COSM915489 C A . . GENE=FGFR2_ENST00000351936;STRAND=-;CDS=c.1605G>T;AA=p.M535I;CNT=1 +10 123258070 COSM915487 C A . . GENE=FGFR2_ENST00000357555;STRAND=-;CDS=c.1344G>T;AA=p.M448I;CNT=1 +10 123258070 COSM915488 C A . . GENE=FGFR2;STRAND=-;CDS=c.1611G>T;AA=p.M537I;CNT=1 +10 123258070 COSM1152149 C A . . GENE=FGFR2_ENST00000457416;STRAND=-;CDS=c.1614G>T;AA=p.M538I;CNT=1 +10 123258086 COSM227560 A C . . GENE=FGFR2_ENST00000357555;STRAND=-;CDS=c.1328T>G;AA=p.V443G;CNT=1 +10 123258086 COSM227559 A C . . GENE=FGFR2;STRAND=-;CDS=c.1595T>G;AA=p.V532G;CNT=1 +10 123274774 COSM36906 A G . . GENE=FGFR2;STRAND=-;CDS=c.1144T>C;AA=p.C382R;CNT=1 +10 123274774 COSM915497 A G . . GENE=FGFR2_ENST00000351936;STRAND=-;CDS=c.1144T>C;AA=p.C382R;CNT=1 +10 123274774 COSM915496 A G . . GENE=FGFR2_ENST00000357555;STRAND=-;CDS=c.877T>C;AA=p.C293R;CNT=1 +10 123274774 COSM1152150 A G . . GENE=FGFR2_ENST00000457416;STRAND=-;CDS=c.1147T>C;AA=p.C383R;CNT=1 +10 123274794 COSM915499 T C . . GENE=FGFR2_ENST00000351936;STRAND=-;CDS=c.1124A>G;AA=p.Y375C;CNT=1 +10 123274794 COSM915498 T C . . GENE=FGFR2_ENST00000357555;STRAND=-;CDS=c.857A>G;AA=p.Y286C;CNT=1 +10 123274794 COSM1152151 T C . . GENE=FGFR2_ENST00000457416;STRAND=-;CDS=c.1127A>G;AA=p.Y376C;CNT=1 +10 123274794 COSM36904 T C . . GENE=FGFR2;STRAND=-;CDS=c.1124A>G;AA=p.Y375C;CNT=1 +10 123279562 COSM41286 C G . . GENE=FGFR2;STRAND=-;CDS=c.870G>C;AA=p.W290C;CNT=1 +10 123279562 COSM1146411 C G . . GENE=FGFR2_ENST00000457416;STRAND=-;CDS=c.870G>C;AA=p.W290C;CNT=1 +10 123279562 COSM683046 C G . . GENE=FGFR2_ENST00000351936;STRAND=-;CDS=c.870G>C;AA=p.W290C;CNT=1 +10 123279562 COSM683045 C G . . GENE=FGFR2_ENST00000357555;STRAND=-;CDS=c.603G>C;AA=p.W201C;CNT=1 +10 123279674 COSM537801 G A . . GENE=FGFR2_ENST00000357555;STRAND=-;CDS=c.491C>T;AA=p.P164L;CNT=1 +10 123279674 COSM537803 G A . . GENE=FGFR2_ENST00000351936;STRAND=-;CDS=c.758C>T;AA=p.P253L;CNT=1 +10 123279674 COSM915504 G C . . GENE=FGFR2_ENST00000357555;STRAND=-;CDS=c.491C>G;AA=p.P164R;CNT=1 +10 123279674 COSM1139349 G A . . GENE=FGFR2_ENST00000457416;STRAND=-;CDS=c.758C>T;AA=p.P253L;CNT=1 +10 123279674 COSM1152152 G C . . GENE=FGFR2_ENST00000457416;STRAND=-;CDS=c.758C>G;AA=p.P253R;CNT=1 +10 123279674 COSM915505 G C . . GENE=FGFR2_ENST00000351936;STRAND=-;CDS=c.758C>G;AA=p.P253R;CNT=1 +10 123279674 COSM49170 G C . . GENE=FGFR2;STRAND=-;CDS=c.758C>G;AA=p.P253R;CNT=1 +10 123279674 COSM537802 G A . . GENE=FGFR2;STRAND=-;CDS=c.758C>T;AA=p.P253L;CNT=1 +10 123279677 COSM915507 G C . . GENE=FGFR2_ENST00000351936;STRAND=-;CDS=c.755C>G;AA=p.S252W;CNT=13 +10 123279677 COSM915506 G C . . GENE=FGFR2_ENST00000357555;STRAND=-;CDS=c.488C>G;AA=p.S163W;CNT=13 +10 123279677 COSM36903 G C . . GENE=FGFR2;STRAND=-;CDS=c.755C>G;AA=p.S252W;CNT=13 +10 123279677 COSM1152153 G C . . GENE=FGFR2_ENST00000457416;STRAND=-;CDS=c.755C>G;AA=p.S252W;CNT=13 +11 533860 COSM161605 C T . . GENE=HRAS_ENST00000397594;STRAND=-;CDS=c.196G>A;AA=p.A66T;CNT=1 +11 533860 COSM161604 C T . . GENE=HRAS;STRAND=-;CDS=c.196G>A;AA=p.A66T;CNT=1 +11 533874 COSM498 T A . . GENE=HRAS;STRAND=-;CDS=c.182A>T;AA=p.Q61L;CNT=3 +11 533874 COSM499 T C . . GENE=HRAS;STRAND=-;CDS=c.182A>G;AA=p.Q61R;CNT=2 +11 533874 COSM99664 T A . . GENE=HRAS_ENST00000397594;STRAND=-;CDS=c.182A>T;AA=p.Q61L;CNT=3 +11 533874 COSM244958 T C . . GENE=HRAS_ENST00000397594;STRAND=-;CDS=c.182A>G;AA=p.Q61R;CNT=2 +11 533875 COSM123649 G T . . GENE=HRAS_ENST00000397594;STRAND=-;CDS=c.181C>A;AA=p.Q61K;CNT=3 +11 533875 COSM496 G T . . GENE=HRAS;STRAND=-;CDS=c.181C>A;AA=p.Q61K;CNT=3 +11 534282 COSM238587 A C . . GENE=HRAS_ENST00000397594;STRAND=-;CDS=c.41T>G;AA=p.V14G;CNT=1 +11 534282 COSM238586 A C . . GENE=HRAS;STRAND=-;CDS=c.41T>G;AA=p.V14G;CNT=1 +11 534285 COSM120918 C A . . GENE=HRAS_ENST00000397594;STRAND=-;CDS=c.38G>T;AA=p.G13V;CNT=2 +11 534285 COSM489 C A . . GENE=HRAS;STRAND=-;CDS=c.38G>T;AA=p.G13V;CNT=2 +11 534286 COSM488 C A . . GENE=HRAS;STRAND=-;CDS=c.37G>T;AA=p.G13C;CNT=1 +11 534286 COSM99938 C G . . GENE=HRAS_ENST00000397594;STRAND=-;CDS=c.37G>C;AA=p.G13R;CNT=3 +11 534286 COSM486 C G . . GENE=HRAS;STRAND=-;CDS=c.37G>C;AA=p.G13R;CNT=3 +11 534286 COSM689078 C A . . GENE=HRAS_ENST00000397594;STRAND=-;CDS=c.37G>T;AA=p.G13C;CNT=1 +11 534288 COSM484 C T . . GENE=HRAS;STRAND=-;CDS=c.35G>A;AA=p.G12D;CNT=3 +11 534288 COSM120919 C G . . GENE=HRAS_ENST00000397594;STRAND=-;CDS=c.35G>C;AA=p.G12A;CNT=1 +11 534288 COSM485 C G . . GENE=HRAS;STRAND=-;CDS=c.35G>C;AA=p.G12A;CNT=1 +11 534288 COSM99915 C T . . GENE=HRAS_ENST00000397594;STRAND=-;CDS=c.35G>A;AA=p.G12D;CNT=3 +11 108117844 COSM1183957 T A . . GENE=ATM;STRAND=+;CDS=c.1055T>A;AA=p.I352N;CNT=2 +11 108117844 COSM1183956 T A . . GENE=ATM_ENST00000278616;STRAND=+;CDS=c.1055T>A;AA=p.I352N;CNT=2 +11 108119810 COSM1146564 G A . . GENE=ATM_ENST00000278616;STRAND=+;CDS=c.1216G>A;AA=p.D406N;CNT=1 +11 108119810 COSM685593 G A . . GENE=ATM;STRAND=+;CDS=c.1216G>A;AA=p.D406N;CNT=1 +11 108119829 COSM352332 G T . . GENE=ATM;STRAND=+;CDS=c.1235G>T;AA=p.W412L;CNT=1 +11 108123582 COSM200656 G A . . GENE=ATM;STRAND=+;CDS=c.1841G>A;AA=p.S614N;CNT=1 +11 108123623 COSM1139582 C T . . GENE=ATM_ENST00000278616;STRAND=+;CDS=c.1882C>T;AA=p.Q628*;CNT=1 +11 108123623 COSM540414 C T . . GENE=ATM;STRAND=+;CDS=c.1882C>T;AA=p.Q628*;CNT=1 +11 108123641 COSM1158827 T A . . GENE=ATM_ENST00000278616;STRAND=+;CDS=c.1898+2T>A;AA=p.?;CNT=2 +11 108123641 COSM1158828 T A . . GENE=ATM;STRAND=+;CDS=c.1898+2T>A;AA=p.?;CNT=2 +11 108137952 COSM1139584 G T . . GENE=ATM_ENST00000278616;STRAND=+;CDS=c.2521G>T;AA=p.D841Y;CNT=1 +11 108137952 COSM540412 G T . . GENE=ATM;STRAND=+;CDS=c.2521G>T;AA=p.D841Y;CNT=1 +11 108138007 COSM365639 A T . . GENE=ATM;STRAND=+;CDS=c.2576A>T;AA=p.N859I;CNT=1 +11 108155174 COSM685592 A G . . GENE=ATM;STRAND=+;CDS=c.3967A>G;AA=p.K1323E;CNT=1 +11 108155174 COSM1146565 A G . . GENE=ATM_ENST00000278616;STRAND=+;CDS=c.3967A>G;AA=p.K1323E;CNT=1 +11 108155202 COSM1183954 T C . . GENE=ATM_ENST00000278616;STRAND=+;CDS=c.3993+2T>C;AA=p.?;CNT=2 +11 108155202 COSM1183955 T C . . GENE=ATM;STRAND=+;CDS=c.3993+2T>C;AA=p.?;CNT=2 +11 108170450 COSM371274 G T . . GENE=ATM;STRAND=+;CDS=c.5015G>T;AA=p.G1672V;CNT=1 +11 108170450 COSM1127934 G C . . GENE=ATM;STRAND=+;CDS=c.5015G>C;AA=p.G1672A;CNT=1 +11 108170460 COSM1146568 G T . . GENE=ATM_ENST00000278616;STRAND=+;CDS=c.5025G>T;AA=p.L1675F;CNT=1 +11 108170460 COSM685589 G T . . GENE=ATM;STRAND=+;CDS=c.5025G>T;AA=p.L1675F;CNT=1 +11 108170468 COSM466266 T G . . GENE=ATM;STRAND=+;CDS=c.5033T>G;AA=p.V1678G;CNT=1 +11 108170468 COSM1135095 T G . . GENE=ATM_ENST00000278616;STRAND=+;CDS=c.5033T>G;AA=p.V1678G;CNT=1 +11 108170469 COSM540834 G T . . GENE=ATM;STRAND=+;CDS=c.5034G>T;AA=p.V1678V;CNT=1 +11 108170469 COSM1139590 G T . . GENE=ATM_ENST00000278616;STRAND=+;CDS=c.5034G>T;AA=p.V1678V;CNT=1 +11 108170587 COSM218294 C G . . GENE=ATM;STRAND=+;CDS=c.5152C>G;AA=p.L1718V;CNT=2 +11 108170587 COSM1159126 C G . . GENE=ATM_ENST00000278616;STRAND=+;CDS=c.5152C>G;AA=p.L1718V;CNT=1 +11 108173640 COSM12792 C T . . GENE=ATM;STRAND=+;CDS=c.5380C>T;AA=p.L1794L;CNT=2 +11 108173681 COSM159255 G A . . GENE=ATM;STRAND=+;CDS=c.5421G>A;AA=p.K1807K;CNT=1 +11 108173724 COSM272064 G T . . GENE=ATM;STRAND=+;CDS=c.5464G>T;AA=p.E1822*;CNT=1 +11 108173736 COSM1183962 T G . . GENE=ATM;STRAND=+;CDS=c.5476T>G;AA=p.L1826V;CNT=2 +11 108173736 COSM1183961 T G . . GENE=ATM_ENST00000278616;STRAND=+;CDS=c.5476T>G;AA=p.L1826V;CNT=2 +11 108180931 COSM1127930 T C . . GENE=ATM;STRAND=+;CDS=c.5807T>C;AA=p.L1936S;CNT=1 +11 108181051 COSM685587 A C . . GENE=ATM;STRAND=+;CDS=c.5918+9A>C;AA=p.?;CNT=1 +11 108181051 COSM1146570 A C . . GENE=ATM_ENST00000278616;STRAND=+;CDS=c.5918+9A>C;AA=p.?;CNT=1 +11 108200958 COSM12951 A C . . GENE=ATM;STRAND=+;CDS=c.7325A>C;AA=p.Q2442P;CNT=1 +11 108200961 COSM20404 G A . . GENE=ATM;STRAND=+;CDS=c.7328G>A;AA=p.R2443Q;CNT=1 +11 108200998 COSM428363 G A . . GENE=ATM;STRAND=+;CDS=c.7365G>A;AA=p.L2455L;CNT=1 +11 108200998 COSM1133925 G A . . GENE=ATM_ENST00000278616;STRAND=+;CDS=c.7365G>A;AA=p.L2455L;CNT=1 +11 108201009 COSM332194 G C . . GENE=ATM;STRAND=+;CDS=c.7376G>C;AA=p.R2459P;CNT=1 +11 108204678 COSM540830 C A . . GENE=ATM;STRAND=+;CDS=c.7993C>A;AA=p.P2665T;CNT=1 +11 108204678 COSM1139594 C A . . GENE=ATM_ENST00000278616;STRAND=+;CDS=c.7993C>A;AA=p.P2665T;CNT=1 +11 108205756 COSM922745 C T . . GENE=ATM;STRAND=+;CDS=c.8071C>T;AA=p.R2691C;CNT=1 +11 108205756 COSM1176661 C T . . GENE=ATM_ENST00000278616;STRAND=+;CDS=c.8071C>T;AA=p.R2691C;CNT=1 +11 108205763 COSM265665 CAGG C . . GENE=ATM;STRAND=+;CDS=c.8079_8081delAGG;AA=p.G2695delG;CNT=1 +11 108205768 COSM540828 G T . . GENE=ATM;STRAND=+;CDS=c.8083G>T;AA=p.G2695C;CNT=1 +11 108205768 COSM1139596 G T . . GENE=ATM_ENST00000278616;STRAND=+;CDS=c.8083G>T;AA=p.G2695C;CNT=1 +11 108205768 COSM1139595 G A . . GENE=ATM_ENST00000278616;STRAND=+;CDS=c.8083G>A;AA=p.G2695S;CNT=1 +11 108205768 COSM540829 G A . . GENE=ATM;STRAND=+;CDS=c.8083G>A;AA=p.G2695S;CNT=2 +11 108206572 COSM466271 G C . . GENE=ATM;STRAND=+;CDS=c.8152G>C;AA=p.G2718R;CNT=1 +11 108206572 COSM1135100 G C . . GENE=ATM_ENST00000278616;STRAND=+;CDS=c.8152G>C;AA=p.G2718R;CNT=1 +11 108206578 COSM540827 G C . . GENE=ATM;STRAND=+;CDS=c.8158G>C;AA=p.D2720H;CNT=1 +11 108206578 COSM1139597 G C . . GENE=ATM_ENST00000278616;STRAND=+;CDS=c.8158G>C;AA=p.D2720H;CNT=1 +11 108206578 COSM1133926 G A . . GENE=ATM_ENST00000278616;STRAND=+;CDS=c.8158G>A;AA=p.D2720N;CNT=1 +11 108206578 COSM428364 G A . . GENE=ATM;STRAND=+;CDS=c.8158G>A;AA=p.D2720N;CNT=1 +11 108206581 COSM200673 G A . . GENE=ATM;STRAND=+;CDS=c.8161G>A;AA=p.D2721N;CNT=1 +11 108218083 COSM415350 A T . . GENE=ATM;STRAND=+;CDS=c.8662A>T;AA=p.I2888L;CNT=1 +11 108218083 COSM1133334 A T . . GENE=ATM_ENST00000278616;STRAND=+;CDS=c.8662A>T;AA=p.I2888L;CNT=1 +11 108218084 COSM21679 T C . . GENE=ATM;STRAND=+;CDS=c.8663T>C;AA=p.I2888T;CNT=1 +11 108218090 COSM1139599 T G . . GENE=ATM_ENST00000278616;STRAND=+;CDS=c.8669T>G;AA=p.L2890R;CNT=1 +11 108218090 COSM540823 T G . . GENE=ATM;STRAND=+;CDS=c.8669T>G;AA=p.L2890R;CNT=1 +11 108218092 COSM168512 G C . . GENE=ATM;STRAND=+;CDS=c.8671G>C;AA=p.G2891R;CNT=1 +11 108236071 COSM922759 A G . . GENE=ATM_ENST00000278616;STRAND=+;CDS=c.9007A>G;AA=p.N3003D;CNT=1 +11 108236074 COSM466274 A G . . GENE=ATM;STRAND=+;CDS=c.9010A>G;AA=p.K3004E;CNT=1 +11 108236074 COSM1135102 A G . . GENE=ATM_ENST00000278616;STRAND=+;CDS=c.9010A>G;AA=p.K3004E;CNT=1 +11 108236087 COSM21626 G A . . GENE=ATM;STRAND=+;CDS=c.9023G>A;AA=p.R3008H;CNT=2 +11 108236087 COSM356707 G T . . GENE=ATM;STRAND=+;CDS=c.9023G>T;AA=p.R3008L;CNT=1 +11 108236087 COSM1139600 G A . . GENE=ATM_ENST00000278616;STRAND=+;CDS=c.9023G>A;AA=p.R3008H;CNT=2 +11 108236107 COSM1139601 G T . . GENE=ATM_ENST00000278616;STRAND=+;CDS=c.9043G>T;AA=p.E3015*;CNT=1 +11 108236107 COSM540821 G T . . GENE=ATM;STRAND=+;CDS=c.9043G>T;AA=p.E3015*;CNT=1 +11 108236172 COSM1162928 A T . . GENE=ATM_ENST00000278616;STRAND=+;CDS=c.9108A>T;AA=p.I3036I;CNT=1 +11 108236172 COSM1162929 A T . . GENE=ATM;STRAND=+;CDS=c.9108A>T;AA=p.I3036I;CNT=1 +11 108236203 COSM1152251 C T . . GENE=ATM_ENST00000278616;STRAND=+;CDS=c.9139C>T;AA=p.R3047*;CNT=1 +11 108236203 COSM21624 C T . . GENE=ATM;STRAND=+;CDS=c.9139C>T;AA=p.R3047*;CNT=1 +12 25378557 COSM124019 C G . . GENE=KRAS;STRAND=-;CDS=c.441G>C;AA=p.K147N;CNT=1 +12 25378561 COSM19900 G A . . GENE=KRAS;STRAND=-;CDS=c.437C>T;AA=p.A146V;CNT=1 +12 25378562 COSM19404 C T . . GENE=KRAS;STRAND=-;CDS=c.436G>A;AA=p.A146T;CNT=11 +12 25378562 COSM1165198 C T . . GENE=KRAS_ENST00000256078;STRAND=-;CDS=c.436G>A;AA=p.A146T;CNT=2 +12 25378562 COSM1140130 C G . . GENE=KRAS_ENST00000256078;STRAND=-;CDS=c.436G>C;AA=p.A146P;CNT=1 +12 25378562 COSM19905 C G . . GENE=KRAS;STRAND=-;CDS=c.436G>C;AA=p.A146P;CNT=2 +12 25378645 COSM692703 C G . . GENE=KRAS;STRAND=-;CDS=c.353G>C;AA=p.C118S;CNT=1 +12 25378645 COSM1146991 C G . . GENE=KRAS_ENST00000256078;STRAND=-;CDS=c.353G>C;AA=p.C118S;CNT=1 +12 25378647 COSM19940 T G . . GENE=KRAS;STRAND=-;CDS=c.351A>C;AA=p.K117N;CNT=2 +12 25378706 COSM288668 C A . . GENE=KRAS;STRAND=-;CDS=c.292G>T;AA=p.E98*;CNT=1 +12 25380254 COSM183929 C A . . GENE=KRAS;STRAND=-;CDS=c.204G>T;AA=p.R68S;CNT=1 +12 25380259 COSM329471 T G . . GENE=KRAS;STRAND=-;CDS=c.199A>C;AA=p.M67L;CNT=1 +12 25380268 COSM1212767 A G . . GENE=KRAS_ENST00000256078;STRAND=-;CDS=c.190T>C;AA=p.Y64H;CNT=1 +12 25380268 COSM1212768 A G . . GENE=KRAS;STRAND=-;CDS=c.190T>C;AA=p.Y64H;CNT=1 +12 25380275 COSM554 T G . . GENE=KRAS;STRAND=-;CDS=c.183A>C;AA=p.Q61H;CNT=9 +12 25380275 COSM1135364 T G . . GENE=KRAS_ENST00000256078;STRAND=-;CDS=c.183A>C;AA=p.Q61H;CNT=5 +12 25380275 COSM1146992 T A . . GENE=KRAS_ENST00000256078;STRAND=-;CDS=c.183A>T;AA=p.Q61H;CNT=4 +12 25380275 COSM555 T A . . GENE=KRAS;STRAND=-;CDS=c.183A>T;AA=p.Q61H;CNT=4 +12 25380276 COSM553 T A . . GENE=KRAS;STRAND=-;CDS=c.182A>T;AA=p.Q61L;CNT=6 +12 25380276 COSM1140131 T A . . GENE=KRAS_ENST00000256078;STRAND=-;CDS=c.182A>T;AA=p.Q61L;CNT=3 +12 25380276 COSM552 T C . . GENE=KRAS;STRAND=-;CDS=c.182A>G;AA=p.Q61R;CNT=5 +12 25380276 COSM1158660 T C . . GENE=KRAS_ENST00000256078;STRAND=-;CDS=c.182A>G;AA=p.Q61R;CNT=2 +12 25380276 COSM87298 TGA TTT . . GENE=KRAS;STRAND=-;CDS=c.180_181TC>AA;AA=p.Q61K;CNT=2 +12 25380277 COSM549 G T . . GENE=KRAS;STRAND=-;CDS=c.181C>A;AA=p.Q61K;CNT=3 +12 25380277 COSM1159597 G T . . GENE=KRAS_ENST00000256078;STRAND=-;CDS=c.181C>A;AA=p.Q61K;CNT=2 +12 25380278 COSM1159613 A T . . GENE=KRAS_ENST00000256078;STRAND=-;CDS=c.180T>A;AA=p.G60G;CNT=2 +12 25380278 COSM253757 A T . . GENE=KRAS;STRAND=-;CDS=c.180T>A;AA=p.G60G;CNT=3 +12 25380279 COSM87290 C T . . GENE=KRAS;STRAND=-;CDS=c.179G>A;AA=p.G60D;CNT=1 +12 25380281 COSM1162236 T A . . GENE=KRAS_ENST00000256078;STRAND=-;CDS=c.177A>T;AA=p.A59A;CNT=1 +12 25380281 COSM1162237 T A . . GENE=KRAS;STRAND=-;CDS=c.177A>T;AA=p.A59A;CNT=1 +12 25380282 COSM28518 G C . . GENE=KRAS;STRAND=-;CDS=c.176C>G;AA=p.A59G;CNT=1 +12 25380282 COSM1135365 G C . . GENE=KRAS_ENST00000256078;STRAND=-;CDS=c.176C>G;AA=p.A59G;CNT=1 +12 25380289 COSM1166779 C T . . GENE=KRAS;STRAND=-;CDS=c.169G>A;AA=p.D57N;CNT=1 +12 25380289 COSM1212769 C T . . GENE=KRAS_ENST00000256078;STRAND=-;CDS=c.169G>A;AA=p.D57N;CNT=1 +12 25398248 COSM1152501 A T . . GENE=KRAS_ENST00000256078;STRAND=-;CDS=c.71T>A;AA=p.I24N;CNT=1 +12 25398248 COSM87313 A T . . GENE=KRAS;STRAND=-;CDS=c.71T>A;AA=p.I24N;CNT=1 +12 25398255 COSM543 G T . . GENE=KRAS;STRAND=-;CDS=c.64C>A;AA=p.Q22K;CNT=1 +12 25398260 COSM1152502 G C . . GENE=KRAS_ENST00000256078;STRAND=-;CDS=c.59C>G;AA=p.T20R;CNT=1 +12 25398260 COSM938161 G C . . GENE=KRAS;STRAND=-;CDS=c.59C>G;AA=p.T20R;CNT=1 +12 25398262 COSM20818 C A . . GENE=KRAS;STRAND=-;CDS=c.57G>T;AA=p.L19F;CNT=1 +12 25398262 COSM1212766 C A . . GENE=KRAS_ENST00000256078;STRAND=-;CDS=c.57G>T;AA=p.L19F;CNT=1 +12 25398279 COSM12721 CGC CAA . . GENE=KRAS;STRAND=-;CDS=c.38_39GC>TT;AA=p.G13V;CNT=1 +12 25398280 COSM536 G A . . GENE=KRAS;STRAND=-;CDS=c.39C>T;AA=p.G13G;CNT=1 +12 25398280 COSM1152503 G A . . GENE=KRAS_ENST00000256078;STRAND=-;CDS=c.39C>T;AA=p.G13G;CNT=1 +12 25398281 COSM534 C A . . GENE=KRAS;STRAND=-;CDS=c.38G>T;AA=p.G13V;CNT=1 +12 25398281 COSM1140132 C T . . GENE=KRAS_ENST00000256078;STRAND=-;CDS=c.38G>A;AA=p.G13D;CNT=14 +12 25398281 COSM532 C T . . GENE=KRAS;STRAND=-;CDS=c.38G>A;AA=p.G13D;CNT=38 +12 25398281 COSM1152504 C A . . GENE=KRAS_ENST00000256078;STRAND=-;CDS=c.38G>T;AA=p.G13V;CNT=1 +12 25398282 COSM1152505 C A . . GENE=KRAS_ENST00000256078;STRAND=-;CDS=c.37G>T;AA=p.G13C;CNT=3 +12 25398282 COSM527 C A . . GENE=KRAS;STRAND=-;CDS=c.37G>T;AA=p.G13C;CNT=6 +12 25398283 COSM1159170 A C . . GENE=KRAS;STRAND=-;CDS=c.36T>G;AA=p.G12G;CNT=2 +12 25398283 COSM1159169 A C . . GENE=KRAS_ENST00000256078;STRAND=-;CDS=c.36T>G;AA=p.G12G;CNT=2 +12 25398283 COSM512 ACC AAA . . GENE=KRAS;STRAND=-;CDS=c.34_35GG>TT;AA=p.G12F;CNT=3 +12 25398283 COSM1140135 ACC AAA . . GENE=KRAS_ENST00000256078;STRAND=-;CDS=c.34_35GG>TT;AA=p.G12F;CNT=2 +12 25398284 COSM522 C G . . GENE=KRAS;STRAND=-;CDS=c.35G>C;AA=p.G12A;CNT=19 +12 25398284 COSM520 C A . . GENE=KRAS;STRAND=-;CDS=c.35G>T;AA=p.G12V;CNT=126 +12 25398284 COSM521 C T . . GENE=KRAS;STRAND=-;CDS=c.35G>A;AA=p.G12D;CNT=110 +12 25398284 COSM1140134 C G . . GENE=KRAS_ENST00000256078;STRAND=-;CDS=c.35G>C;AA=p.G12A;CNT=12 +12 25398284 COSM1140133 C A . . GENE=KRAS_ENST00000256078;STRAND=-;CDS=c.35G>T;AA=p.G12V;CNT=86 +12 25398284 COSM1135366 C T . . GENE=KRAS_ENST00000256078;STRAND=-;CDS=c.35G>A;AA=p.G12D;CNT=69 +12 25398284 COSM394409 CCA CTA . . GENE=KRAS;STRAND=-;CDS=c.33_34TG>TA;AA=p.A11>?;CNT=1 +12 25398285 COSM517 C T . . GENE=KRAS;STRAND=-;CDS=c.34G>A;AA=p.G12S;CNT=9 +12 25398285 COSM1157797 C G . . GENE=KRAS_ENST00000256078;STRAND=-;CDS=c.34G>C;AA=p.G12R;CNT=19 +12 25398285 COSM1152506 C T . . GENE=KRAS_ENST00000256078;STRAND=-;CDS=c.34G>A;AA=p.G12S;CNT=5 +12 25398285 COSM518 C G . . GENE=KRAS;STRAND=-;CDS=c.34G>C;AA=p.G12R;CNT=26 +12 25398285 COSM1140136 C A . . GENE=KRAS_ENST00000256078;STRAND=-;CDS=c.34G>T;AA=p.G12C;CNT=41 +12 25398285 COSM516 C A . . GENE=KRAS;STRAND=-;CDS=c.34G>T;AA=p.G12C;CNT=73 +12 112888161 COSM314576 T C . . GENE=PTPN11;STRAND=+;CDS=c.177T>C;AA=p.T59T;CNT=1 +12 112888191 COSM201195 G T . . GENE=PTPN11;STRAND=+;CDS=c.207G>T;AA=p.E69D;CNT=1 +12 112888199 COSM13015 C T . . GENE=PTPN11;STRAND=+;CDS=c.215C>T;AA=p.A72V;CNT=1 +12 112888210 COSM13000 G A . . GENE=PTPN11;STRAND=+;CDS=c.226G>A;AA=p.E76K;CNT=1 +12 112888211 COSM13017 A G . . GENE=PTPN11;STRAND=+;CDS=c.227A>G;AA=p.E76G;CNT=1 +12 112926884 COSM13020 T C . . GENE=PTPN11;STRAND=+;CDS=c.1504T>C;AA=p.S502P;CNT=1 +12 112926888 COSM14271 G T . . GENE=PTPN11;STRAND=+;CDS=c.1508G>T;AA=p.G503V;CNT=1 +12 112926889 COSM397442 G T . . GENE=PTPN11;STRAND=+;CDS=c.1509G>T;AA=p.G503G;CNT=1 +12 112926942 COSM353792 A T . . GENE=PTPN11;STRAND=+;CDS=c.1562A>T;AA=p.Y521F;CNT=1 +12 121431482 COSM24911 G A . . GENE=HNF1A;STRAND=+;CDS=c.686G>A;AA=p.R229Q;CNT=1 +12 121431484 COSM251348 GAGACGCTAGTGGAGGAGTGCAATAGGTACAA G . . GENE=HNF1A;STRAND=+;CDS=c.689_713+6del31;AA=p.?;CNT=1 +12 121432067 COSM24920 C A . . GENE=HNF1A;STRAND=+;CDS=c.814C>A;AA=p.R272S;CNT=1 +12 121432110 COSM394948 A T . . GENE=HNF1A;STRAND=+;CDS=c.857A>T;AA=p.Y286F;CNT=1 +12 121432114 COSM202412 C T . . GENE=HNF1A;STRAND=+;CDS=c.861C>T;AA=p.S287S;CNT=1 +13 28592641 COSM784 T A . . GENE=FLT3;STRAND=-;CDS=c.2504A>T;AA=p.D835V;CNT=1 +13 28592642 COSM785 C G . . GENE=FLT3;STRAND=-;CDS=c.2503G>C;AA=p.D835H;CNT=2 +13 28592642 COSM783 C A . . GENE=FLT3;STRAND=-;CDS=c.2503G>T;AA=p.D835Y;CNT=3 +13 28592689 COSM330266 A G . . GENE=FLT3;STRAND=-;CDS=c.2456T>C;AA=p.V819A;CNT=1 +13 28602308 COSM550913 G T . . GENE=FLT3;STRAND=-;CDS=c.2053+7C>A;AA=p.?;CNT=1 +13 28602339 COSM161098 G A . . GENE=FLT3;STRAND=-;CDS=c.2029C>T;AA=p.L677L;CNT=1 +13 28602365 COSM385120 A G . . GENE=FLT3;STRAND=-;CDS=c.2003T>C;AA=p.L668P;CNT=1 +13 28602366 COSM550912 G A . . GENE=FLT3;STRAND=-;CDS=c.2002C>T;AA=p.L668L;CNT=1 +13 28602427 COSM550911 T A . . GENE=FLT3;STRAND=-;CDS=c.1943-2A>T;AA=p.?;CNT=1 +13 28608256 COSM158605 A ATCATATTCATATTCATATTCATAT . . GENE=FLT3;STRAND=-;CDS=c.1799_1800ins24;AA=p.Y599_D600insEYEYEYEY;CNT=2 +13 28608258 COSM158603 C CGGCGATATTCATATTCTCTGAAATCAACGTAGAAGTACTCATTATCTGAGGAGCCGG . . GENE=FLT3;STRAND=-;CDS=c.1797_1798ins57;AA=p.Y599_D600ins19;CNT=2 +13 28608273 COSM158601 T TGAAATCAACGTAGAAGTACTCATTATCTGA . . GENE=FLT3;STRAND=-;CDS=c.1782_1783ins30;AA=p.F594_R595ins10;CNT=2 +13 28610128 COSM335014 C A . . GENE=FLT3;STRAND=-;CDS=c.1362G>T;AA=p.S454S;CNT=1 +13 28610129 COSM696841 G A . . GENE=FLT3;STRAND=-;CDS=c.1361C>T;AA=p.S454L;CNT=1 +13 48919214 COSM326324 A T . . GENE=RB1;STRAND=+;CDS=c.381-2A>T;AA=p.?;CNT=1 +13 48919285 COSM147686 A T . . GENE=RB1;STRAND=+;CDS=c.450A>T;AA=p.R150S;CNT=1 +13 48919299 COSM391280 AT A . . GENE=RB1;STRAND=+;CDS=c.465delT;AA=p.Y155fs*1;CNT=1 +13 48923135 COSM317954 TG T . . GENE=RB1;STRAND=+;CDS=c.584delG;AA=p.W195fs*1;CNT=1 +13 48923137 COSM214151 G A . . GENE=RB1;STRAND=+;CDS=c.585G>A;AA=p.W195*;CNT=1 +13 48942688 COSM166169 AAAAGT A . . GENE=RB1;STRAND=+;CDS=c.1076_1080delAAAGT;AA=p.S360fs*2;CNT=1 +13 48942718 COSM318381 AT A . . GENE=RB1;STRAND=+;CDS=c.1106delT;AA=p.P370fs*10;CNT=1 +13 48955539 COSM69074 GATGTGAACATCGAATC G . . GENE=RB1;STRAND=+;CDS=c.1656_1671del16;AA=p.C553fs*53;CNT=1 +13 49027127 COSM347540 A G . . GENE=RB1;STRAND=+;CDS=c.1696-2A>G;AA=p.?;CNT=2 +13 49027127 COSM1152656 A G . . GENE=RB1_ENST00000267163;STRAND=+;CDS=c.1696-2A>G;AA=p.?;CNT=1 +13 49027133 COSM13118 C A . . GENE=RB1;STRAND=+;CDS=c.1700C>A;AA=p.S567*;CNT=1 +13 49027183 COSM1152657 G T . . GENE=RB1_ENST00000267163;STRAND=+;CDS=c.1750G>T;AA=p.D584Y;CNT=1 +13 49027183 COSM947798 G T . . GENE=RB1;STRAND=+;CDS=c.1750G>T;AA=p.D584Y;CNT=1 +13 49027248 COSM1133428 G A . . GENE=RB1_ENST00000267163;STRAND=+;CDS=c.1814+1G>A;AA=p.?;CNT=1 +13 49027248 COSM416348 G A . . GENE=RB1;STRAND=+;CDS=c.1814+1G>A;AA=p.?;CNT=1 +13 49033833 COSM212940 T C . . GENE=RB1;STRAND=+;CDS=c.1970T>C;AA=p.L657P;CNT=1 +13 49033853 COSM270006 A G . . GENE=RB1;STRAND=+;CDS=c.1990A>G;AA=p.T664A;CNT=1 +13 49033857 COSM326321 T G . . GENE=RB1;STRAND=+;CDS=c.1994T>G;AA=p.L665R;CNT=1 +13 49033916 COSM13117 C T . . GENE=RB1;STRAND=+;CDS=c.2053C>T;AA=p.Q685*;CNT=1 +13 49033946 COSM288406 A G . . GENE=RB1;STRAND=+;CDS=c.2083A>G;AA=p.M695V;CNT=1 +13 49033954 COSM1140401 C G . . GENE=RB1_ENST00000267163;STRAND=+;CDS=c.2091C>G;AA=p.D697E;CNT=1 +13 49033954 COSM551466 C G . . GENE=RB1;STRAND=+;CDS=c.2091C>G;AA=p.D697E;CNT=1 +13 49033955 COSM49018 A T . . GENE=RB1;STRAND=+;CDS=c.2092A>T;AA=p.R698W;CNT=1 +13 49033964 COSM214511 GACCAAGTAAGAAA G . . GENE=RB1;STRAND=+;CDS=c.2102_2106+8delACCAAgtaagaaa;AA=p.?;CNT=1 +13 49033967 COSM76180 C A . . GENE=RB1;STRAND=+;CDS=c.2104C>A;AA=p.Q702K;CNT=1 +13 49033970 COSM317962 G T . . GENE=RB1;STRAND=+;CDS=c.2106+1G>T;AA=p.?;CNT=1 +13 49033970 COSM323003 G A . . GENE=RB1;STRAND=+;CDS=c.2106+1G>A;AA=p.?;CNT=1 +13 49037867 COSM190077 A T . . GENE=RB1;STRAND=+;CDS=c.2107A>T;AA=p.I703F;CNT=1 +13 49037872 COSM318368 GATGTGTTCC G . . GENE=RB1;STRAND=+;CDS=c.2113_2121delATGTGTTCC;AA=p.C706_M708delCSM;CNT=1 +13 49037877 COSM883 G T . . GENE=RB1;STRAND=+;CDS=c.2117G>T;AA=p.C706F;CNT=2 +13 49037933 COSM392224 G GN . . GENE=RB1;STRAND=+;CDS=c.2173_2174insTT;AA=p.T726fs*1;CNT=1 +13 49037946 COSM318377 AG A . . GENE=RB1;STRAND=+;CDS=c.2187delG;AA=p.D730fs*14;CNT=1 +13 49039132 COSM317963 A T . . GENE=RB1;STRAND=+;CDS=c.2212-2A>T;AA=p.?;CNT=1 +13 49039136 COSM314700 A G . . GENE=RB1;STRAND=+;CDS=c.2214A>G;AA=p.T738T;CNT=1 +13 49039145 COSM1192936 TGTT TATG . . GENE=RB1;STRAND=+;CDS=c.2224_2226GTT>ATG;AA=p.V742M;CNT=1 +13 49039145 COSM1192935 TGTT TATG . . GENE=RB1_ENST00000267163;STRAND=+;CDS=c.2224_2226GTT>ATG;AA=p.V742M;CNT=1 +13 49039161 COSM212665 G T . . GENE=RB1;STRAND=+;CDS=c.2239G>T;AA=p.E747*;CNT=1 +13 49039189 COSM1140402 A G . . GENE=RB1_ENST00000267163;STRAND=+;CDS=c.2267A>G;AA=p.Y756C;CNT=1 +13 49039189 COSM551465 A G . . GENE=RB1;STRAND=+;CDS=c.2267A>G;AA=p.Y756C;CNT=1 +13 49039206 COSM947804 C T . . GENE=RB1;STRAND=+;CDS=c.2284C>T;AA=p.Q762*;CNT=1 +13 49039206 COSM1152658 C T . . GENE=RB1_ENST00000267163;STRAND=+;CDS=c.2284C>T;AA=p.Q762*;CNT=1 +13 49039236 COSM348849 G T . . GENE=RB1;STRAND=+;CDS=c.2314G>T;AA=p.A772S;CNT=1 +13 49039250 COSM696474 A T . . GENE=RB1;STRAND=+;CDS=c.2325+3A>T;AA=p.?;CNT=1 +13 49039250 COSM1147225 A T . . GENE=RB1_ENST00000267163;STRAND=+;CDS=c.2325+3A>T;AA=p.?;CNT=1 +14 105246445 COSM93893 A C . . GENE=AKT1;STRAND=-;CDS=c.155T>G;AA=p.L52R;CNT=1 +14 105246482 COSM469704 C T . . GENE=AKT1;STRAND=-;CDS=c.118G>A;AA=p.E40K;CNT=1 +14 105246551 COSM33765 C T . . GENE=AKT1;STRAND=-;CDS=c.49G>A;AA=p.E17K;CNT=14 +16 68835620 COSM704381 C T . . GENE=CDH1;STRAND=+;CDS=c.211C>T;AA=p.L71F;CNT=1 +16 68835640 COSM558825 G T . . GENE=CDH1;STRAND=+;CDS=c.231G>T;AA=p.V77V;CNT=1 +16 68835693 COSM972774 A T . . GENE=CDH1;STRAND=+;CDS=c.284A>T;AA=p.Q95L;CNT=1 +16 68835711 COSM194599 A G . . GENE=CDH1;STRAND=+;CDS=c.302A>G;AA=p.Y101C;CNT=1 +16 68835746 COSM166000 AAAGTCACGCTG A . . GENE=CDH1;STRAND=+;CDS=c.338_348del11;AA=p.V114fs*50;CNT=1 +16 68846122 COSM294225 G A . . GENE=CDH1;STRAND=+;CDS=c.1093G>A;AA=p.V365I;CNT=1 +16 68846165 COSM1128899 C T . . GENE=CDH1;STRAND=+;CDS=c.1136C>T;AA=p.T379M;CNT=1 +16 68847285 COSM972788 G A . . GENE=CDH1;STRAND=+;CDS=c.1207G>A;AA=p.A403T;CNT=1 +16 68847292 COSM165999 ATACCCCAGCGTGGGAGGCTG A . . GENE=CDH1;STRAND=+;CDS=c.1215_1234del20;AA=p.T406fs*6;CNT=1 +16 68847302 COSM194601 G A . . GENE=CDH1;STRAND=+;CDS=c.1224G>A;AA=p.A408A;CNT=1 +16 68847330 COSM398950 G A . . GENE=CDH1;STRAND=+;CDS=c.1252G>A;AA=p.D418N;CNT=1 +16 68847375 COSM239247 G A . . GENE=CDH1;STRAND=+;CDS=c.1297G>A;AA=p.D433N;CNT=1 +16 68847399 COSM20829 G C . . GENE=CDH1;STRAND=+;CDS=c.1320+1G>C;AA=p.?;CNT=1 +17 7573981 COSM707071 TCC TAA . . GENE=TP53_ENST00000269305;STRAND=-;CDS=c.1044_1045GG>TT;AA=p.L348_E349>F*;CNT=1 +17 7573981 COSM707070 TCC TAA . . GENE=TP53;STRAND=-;CDS=c.1044_1045GG>TT;AA=p.L348_E349>F*;CNT=1 +17 7573982 COSM140784 C A . . GENE=TP53_ENST00000269305;STRAND=-;CDS=c.1045G>T;AA=p.E349*;CNT=4 +17 7573982 COSM10770 C A . . GENE=TP53;STRAND=-;CDS=c.1045G>T;AA=p.E349*;CNT=5 +17 7573983 COSM46348 C A . . GENE=TP53;STRAND=-;CDS=c.1044G>T;AA=p.L348F;CNT=2 +17 7573983 COSM707069 C A . . GENE=TP53_ENST00000269305;STRAND=-;CDS=c.1044G>T;AA=p.L348F;CNT=1 +17 7573984 COSM69193 A AAGGCCTT . . GENE=TP53;STRAND=-;CDS=c.1042_1043insAAGGCCT;AA=p.L348fs*1;CNT=1 +17 7573988 COSM45717 C T . . GENE=TP53;STRAND=-;CDS=c.1039G>A;AA=p.A347T;CNT=1 +17 7573988 COSM1191612 C T . . GENE=TP53_ENST00000269305;STRAND=-;CDS=c.1039G>A;AA=p.A347T;CNT=1 +17 7573993 COSM1169350 T A . . GENE=TP53_ENST00000269305;STRAND=-;CDS=c.1034A>T;AA=p.N345I;CNT=1 +17 7573993 COSM1169349 T A . . GENE=TP53;STRAND=-;CDS=c.1034A>T;AA=p.N345I;CNT=1 +17 7573994 COSM69016 TC T . . GENE=TP53;STRAND=-;CDS=c.1032delG;AA=p.N345fs*25;CNT=1 +17 7573996 COSM46303 A C . . GENE=TP53;STRAND=-;CDS=c.1031T>G;AA=p.L344R;CNT=1 +17 7573996 COSM323924 A C . . GENE=TP53_ENST00000269305;STRAND=-;CDS=c.1031T>G;AA=p.L344R;CNT=1 +17 7574000 COSM308326 C A . . GENE=TP53_ENST00000269305;STRAND=-;CDS=c.1027G>T;AA=p.E343*;CNT=3 +17 7574000 COSM11078 C A . . GENE=TP53;STRAND=-;CDS=c.1027G>T;AA=p.E343*;CNT=3 +17 7574002 COSM45276 C G . . GENE=TP53;STRAND=-;CDS=c.1025G>C;AA=p.R342P;CNT=1 +17 7574002 COSM437468 C G . . GENE=TP53_ENST00000269305;STRAND=-;CDS=c.1025G>C;AA=p.R342P;CNT=1 +17 7574002 COSM18597 CG C . . GENE=TP53;STRAND=-;CDS=c.1024delC;AA=p.R342fs*3;CNT=1 +17 7574002 COSM128665 CG C . . GENE=TP53_ENST00000269305;STRAND=-;CDS=c.1024delC;AA=p.R342fs*3;CNT=1 +17 7574003 COSM99721 G A . . GENE=TP53_ENST00000269305;STRAND=-;CDS=c.1024C>T;AA=p.R342*;CNT=12 +17 7574003 COSM11073 G A . . GENE=TP53;STRAND=-;CDS=c.1024C>T;AA=p.R342*;CNT=15 +17 7574003 COSM306101 G GTTCAGCTCTC . . GENE=TP53;STRAND=-;CDS=c.1023_1024ins10;AA=p.R342fs*3;CNT=1 +17 7574003 COSM306102 G GTTCAGCTCTC . . GENE=TP53_ENST00000269305;STRAND=-;CDS=c.1023_1024ins10;AA=p.R342fs*3;CNT=1 +17 7574003 COSM43795 GG G . . GENE=TP53;STRAND=-;CDS=c.1023delC;AA=p.R342fs*3;CNT=1 +17 7574003 COSM241992 GG G . . GENE=TP53_ENST00000269305;STRAND=-;CDS=c.1023delC;AA=p.R342fs*3;CNT=1 +17 7574009 COSM84370 T C . . GENE=TP53;STRAND=-;CDS=c.1018A>G;AA=p.M340V;CNT=1 +17 7574009 COSM85579 TCTCG T . . GENE=TP53;STRAND=-;CDS=c.1014_1017delCGAG;AA=p.F338fs*6;CNT=1 +17 7574010 COSM85580 CTCG C . . GENE=TP53;STRAND=-;CDS=c.1014_1016delCGA;AA=p.F338_E339>L;CNT=1 +17 7574012 COSM214290 C A . . GENE=TP53_ENST00000269305;STRAND=-;CDS=c.1015G>T;AA=p.E339*;CNT=1 +17 7574012 COSM11286 C A . . GENE=TP53;STRAND=-;CDS=c.1015G>T;AA=p.E339*;CNT=1 +17 7574017 COSM131485 C T . . GENE=TP53_ENST00000269305;STRAND=-;CDS=c.1010G>A;AA=p.R337H;CNT=1 +17 7574017 COSM378685 C G . . GENE=TP53;STRAND=-;CDS=c.1010G>C;AA=p.R337P;CNT=1 +17 7574017 COSM220135 C A . . GENE=TP53_ENST00000269305;STRAND=-;CDS=c.1010G>T;AA=p.R337L;CNT=7 +17 7574017 COSM378686 C G . . GENE=TP53_ENST00000269305;STRAND=-;CDS=c.1010G>C;AA=p.R337P;CNT=1 +17 7574017 COSM43882 C T . . GENE=TP53;STRAND=-;CDS=c.1010G>A;AA=p.R337H;CNT=1 +17 7574017 COSM11411 C A . . GENE=TP53;STRAND=-;CDS=c.1010G>T;AA=p.R337L;CNT=7 +17 7574017 COSM111628 CG C . . GENE=TP53;STRAND=-;CDS=c.1009delC;AA=p.R337fs*8;CNT=1 +17 7574017 COSM111629 CG C . . GENE=TP53_ENST00000269305;STRAND=-;CDS=c.1009delC;AA=p.R337fs*8;CNT=1 +17 7574018 COSM11071 G A . . GENE=TP53;STRAND=-;CDS=c.1009C>T;AA=p.R337C;CNT=3 +17 7574018 COSM117591 G A . . GENE=TP53_ENST00000269305;STRAND=-;CDS=c.1009C>T;AA=p.R337C;CNT=3 +17 7574022 COSM295248 AC A . . GENE=TP53;STRAND=-;CDS=c.1004delG;AA=p.R335fs*10;CNT=1 +17 7574022 COSM295249 AC A . . GENE=TP53_ENST00000269305;STRAND=-;CDS=c.1004delG;AA=p.R335fs*10;CNT=1 +17 7574023 COSM288629 C CT . . GENE=TP53;STRAND=-;CDS=c.1003_1004insA;AA=p.R335fs*2;CNT=1 +17 7574023 COSM288630 C CT . . GENE=TP53_ENST00000269305;STRAND=-;CDS=c.1003_1004insA;AA=p.R335fs*2;CNT=1 +17 7574026 COSM330688 C G . . GENE=TP53_ENST00000269305;STRAND=-;CDS=c.1001G>C;AA=p.G334A;CNT=1 +17 7574026 COSM330687 C G . . GENE=TP53;STRAND=-;CDS=c.1001G>C;AA=p.G334A;CNT=1 +17 7574026 COSM323935 C A . . GENE=TP53_ENST00000269305;STRAND=-;CDS=c.1001G>T;AA=p.G334V;CNT=2 +17 7574026 COSM11514 C A . . GENE=TP53;STRAND=-;CDS=c.1001G>T;AA=p.G334V;CNT=2 +17 7574029 COSM69084 CG C . . GENE=TP53;STRAND=-;CDS=c.997delC;AA=p.R333fs*12;CNT=2 +17 7574029 COSM437469 CG C . . GENE=TP53_ENST00000269305;STRAND=-;CDS=c.997delC;AA=p.R333fs*12;CNT=1 +17 7574034 COSM984869 C G . . GENE=TP53_ENST00000269305;STRAND=-;CDS=c.994-1G>C;AA=p.?;CNT=1 +17 7574034 COSM562343 C A . . GENE=TP53_ENST00000269305;STRAND=-;CDS=c.994-1G>T;AA=p.?;CNT=1 +17 7574034 COSM49007 C A . . GENE=TP53;STRAND=-;CDS=c.994-1G>T;AA=p.?;CNT=1 +17 7574034 COSM69404 C T . . GENE=TP53;STRAND=-;CDS=c.994-1G>A;AA=p.?;CNT=1 +17 7574034 COSM13745 C G . . GENE=TP53;STRAND=-;CDS=c.994-1G>C;AA=p.?;CNT=1 +17 7574035 COSM318155 T C . . GENE=TP53_ENST00000269305;STRAND=-;CDS=c.994-2A>G;AA=p.?;CNT=1 +17 7574035 COSM87027 T C . . GENE=TP53;STRAND=-;CDS=c.994-2A>G;AA=p.?;CNT=1 +17 7577018 COSM44143 C T . . GENE=TP53;STRAND=-;CDS=c.919+1G>A;AA=p.?;CNT=4 +17 7577018 COSM1230104 C G . . GENE=TP53_ENST00000269305;STRAND=-;CDS=c.919+1G>C;AA=p.?;CNT=1 +17 7577018 COSM213111 C T . . GENE=TP53_ENST00000269305;STRAND=-;CDS=c.919+1G>A;AA=p.?;CNT=3 +17 7577018 COSM13585 C G . . GENE=TP53;STRAND=-;CDS=c.919+1G>C;AA=p.?;CNT=1 +17 7577018 COSM111649 CCT C . . GENE=TP53;STRAND=-;CDS=c.918_919delAG;AA=p.A307fs*29;CNT=1 +17 7577018 COSM111650 CCT C . . GENE=TP53_ENST00000269305;STRAND=-;CDS=c.918_919delAG;AA=p.A307fs*29;CNT=1 +17 7577022 COSM10663 G A . . GENE=TP53;STRAND=-;CDS=c.916C>T;AA=p.R306*;CNT=18 +17 7577022 COSM99947 G A . . GENE=TP53_ENST00000269305;STRAND=-;CDS=c.916C>T;AA=p.R306*;CNT=11 +17 7577025 COSM43773 T A . . GENE=TP53;STRAND=-;CDS=c.913A>T;AA=p.K305*;CNT=1 +17 7577025 COSM99951 T A . . GENE=TP53_ENST00000269305;STRAND=-;CDS=c.913A>T;AA=p.K305*;CNT=1 +17 7577046 COSM10710 C A . . GENE=TP53;STRAND=-;CDS=c.892G>T;AA=p.E298*;CNT=5 +17 7577046 COSM121080 C A . . GENE=TP53_ENST00000269305;STRAND=-;CDS=c.892G>T;AA=p.E298*;CNT=5 +17 7577057 COSM6621 TC T . . GENE=TP53;STRAND=-;CDS=c.880delG;AA=p.E294fs*51;CNT=1 +17 7577057 COSM318363 TC T . . GENE=TP53_ENST00000269305;STRAND=-;CDS=c.880delG;AA=p.E294fs*51;CNT=1 +17 7577058 COSM10856 C A . . GENE=TP53;STRAND=-;CDS=c.880G>T;AA=p.E294*;CNT=6 +17 7577058 COSM126981 C A . . GENE=TP53_ENST00000269305;STRAND=-;CDS=c.880G>T;AA=p.E294*;CNT=5 +17 7577064 COSM44894 T A . . GENE=TP53;STRAND=-;CDS=c.874A>T;AA=p.K292*;CNT=1 +17 7577064 COSM1172458 T A . . GENE=TP53_ENST00000269305;STRAND=-;CDS=c.874A>T;AA=p.K292*;CNT=1 +17 7577064 COSM297085 TCTTGCGG T . . GENE=TP53;STRAND=-;CDS=c.867_873delCCGCAAG;AA=p.R290fs*53;CNT=1 +17 7577064 COSM297086 TCTTGCGG T . . GENE=TP53_ENST00000269305;STRAND=-;CDS=c.867_873delCCGCAAG;AA=p.R290fs*53;CNT=1 +17 7577070 COSM1167879 G A . . GENE=TP53_ENST00000269305;STRAND=-;CDS=c.868C>T;AA=p.R290C;CNT=1 +17 7577070 COSM45679 G A . . GENE=TP53;STRAND=-;CDS=c.868C>T;AA=p.R290C;CNT=1 +17 7577071 COSM1158423 GA G . . GENE=TP53;STRAND=-;CDS=c.866delT;AA=p.L289fs*56;CNT=1 +17 7577071 COSM1158424 GA G . . GENE=TP53_ENST00000269305;STRAND=-;CDS=c.866delT;AA=p.L289fs*56;CNT=1 +17 7577075 COSM111986 T TT . . GENE=TP53;STRAND=-;CDS=c.862_863insA;AA=p.N288fs*18;CNT=1 +17 7577075 COSM111987 T TT . . GENE=TP53_ENST00000269305;STRAND=-;CDS=c.862_863insA;AA=p.N288fs*18;CNT=1 +17 7577079 COSM214243 C A . . GENE=TP53_ENST00000269305;STRAND=-;CDS=c.859G>T;AA=p.E287*;CNT=2 +17 7577079 COSM44133 C A . . GENE=TP53;STRAND=-;CDS=c.859G>T;AA=p.E287*;CNT=2 +17 7577081 COSM43565 T C . . GENE=TP53;STRAND=-;CDS=c.857A>G;AA=p.E286G;CNT=2 +17 7577081 COSM288255 T C . . GENE=TP53_ENST00000269305;STRAND=-;CDS=c.857A>G;AA=p.E286G;CNT=2 +17 7577081 COSM341111 TCC TTA . . GENE=TP53_ENST00000269305;STRAND=-;CDS=c.855_856GG>TA;AA=p.E285>?;CNT=1 +17 7577081 COSM341110 TCC TTA . . GENE=TP53;STRAND=-;CDS=c.855_856GG>TA;AA=p.E285_E286>DK;CNT=1 +17 7577082 COSM318163 C A . . GENE=TP53_ENST00000269305;STRAND=-;CDS=c.856G>T;AA=p.E286*;CNT=4 +17 7577082 COSM99924 C T . . GENE=TP53_ENST00000269305;STRAND=-;CDS=c.856G>A;AA=p.E286K;CNT=4 +17 7577082 COSM10726 C T . . GENE=TP53;STRAND=-;CDS=c.856G>A;AA=p.E286K;CNT=5 +17 7577082 COSM43919 C A . . GENE=TP53;STRAND=-;CDS=c.856G>T;AA=p.E286*;CNT=4 +17 7577085 COSM44388 C A . . GENE=TP53;STRAND=-;CDS=c.853G>T;AA=p.E285*;CNT=2 +17 7577085 COSM137087 C T . . GENE=TP53_ENST00000269305;STRAND=-;CDS=c.853G>A;AA=p.E285K;CNT=4 +17 7577085 COSM10722 C T . . GENE=TP53;STRAND=-;CDS=c.853G>A;AA=p.E285K;CNT=4 +17 7577085 COSM254990 C A . . GENE=TP53_ENST00000269305;STRAND=-;CDS=c.853G>T;AA=p.E285*;CNT=2 +17 7577087 COSM69017 GT G . . GENE=TP53;STRAND=-;CDS=c.850delA;AA=p.T284fs*61;CNT=1 +17 7577088 COSM707066 T G . . GENE=TP53_ENST00000269305;STRAND=-;CDS=c.850A>C;AA=p.T284P;CNT=1 +17 7577088 COSM44352 T G . . GENE=TP53;STRAND=-;CDS=c.850A>C;AA=p.T284P;CNT=1 +17 7577090 COSM10743 C G . . GENE=TP53;STRAND=-;CDS=c.848G>C;AA=p.R283P;CNT=3 +17 7577090 COSM99941 C G . . GENE=TP53_ENST00000269305;STRAND=-;CDS=c.848G>C;AA=p.R283P;CNT=3 +17 7577090 COSM111954 C CA . . GENE=TP53_ENST00000269305;STRAND=-;CDS=c.847_848insT;AA=p.R283fs*23;CNT=1 +17 7577090 COSM111953 C CA . . GENE=TP53;STRAND=-;CDS=c.847_848insT;AA=p.R283fs*23;CNT=1 +17 7577091 COSM10911 G A . . GENE=TP53;STRAND=-;CDS=c.847C>T;AA=p.R283C;CNT=1 +17 7577091 COSM707064 GCC GGT . . GENE=TP53_ENST00000269305;STRAND=-;CDS=c.845_846GG>AC;AA=p.R282H;CNT=1 +17 7577091 COSM707063 GCC GGT . . GENE=TP53;STRAND=-;CDS=c.845_846GG>AC;AA=p.R282H;CNT=1 +17 7577092 COSM707065 C G . . GENE=TP53_ENST00000269305;STRAND=-;CDS=c.846G>C;AA=p.R282R;CNT=1 +17 7577092 COSM43561 C G . . GENE=TP53;STRAND=-;CDS=c.846G>C;AA=p.R282R;CNT=1 +17 7577093 COSM99936 C T . . GENE=TP53_ENST00000269305;STRAND=-;CDS=c.845G>A;AA=p.R282Q;CNT=2 +17 7577093 COSM44306 C G . . GENE=TP53;STRAND=-;CDS=c.845G>C;AA=p.R282P;CNT=1 +17 7577093 COSM44338 C T . . GENE=TP53;STRAND=-;CDS=c.845G>A;AA=p.R282Q;CNT=2 +17 7577093 COSM117157 C G . . GENE=TP53_ENST00000269305;STRAND=-;CDS=c.845G>C;AA=p.R282P;CNT=1 +17 7577093 COSM112007 C CG . . GENE=TP53_ENST00000269305;STRAND=-;CDS=c.844_845insC;AA=p.R282fs*24;CNT=1 +17 7577093 COSM112006 C CG . . GENE=TP53;STRAND=-;CDS=c.844_845insC;AA=p.R282fs*24;CNT=1 +17 7577094 COSM99934 G C . . GENE=TP53_ENST00000269305;STRAND=-;CDS=c.844C>G;AA=p.R282G;CNT=2 +17 7577094 COSM99925 G A . . GENE=TP53_ENST00000269305;STRAND=-;CDS=c.844C>T;AA=p.R282W;CNT=16 +17 7577094 COSM10704 G A . . GENE=TP53;STRAND=-;CDS=c.844C>T;AA=p.R282W;CNT=19 +17 7577094 COSM10992 G C . . GENE=TP53;STRAND=-;CDS=c.844C>G;AA=p.R282G;CNT=2 +17 7577095 COSM43906 G T . . GENE=TP53;STRAND=-;CDS=c.843C>A;AA=p.D281E;CNT=1 +17 7577095 COSM562342 G T . . GENE=TP53_ENST00000269305;STRAND=-;CDS=c.843C>A;AA=p.D281E;CNT=1 +17 7577096 COSM45729 T A . . GENE=TP53;STRAND=-;CDS=c.842A>T;AA=p.D281V;CNT=1 +17 7577096 COSM11232 T C . . GENE=TP53;STRAND=-;CDS=c.842A>G;AA=p.D281G;CNT=1 +17 7577096 COSM562341 T A . . GENE=TP53_ENST00000269305;STRAND=-;CDS=c.842A>T;AA=p.D281V;CNT=1 +17 7577097 COSM10943 C G . . GENE=TP53;STRAND=-;CDS=c.841G>C;AA=p.D281H;CNT=2 +17 7577097 COSM1158315 C G . . GENE=TP53_ENST00000269305;STRAND=-;CDS=c.841G>C;AA=p.D281H;CNT=1 +17 7577097 COSM214193 C A . . GENE=TP53_ENST00000269305;STRAND=-;CDS=c.841G>T;AA=p.D281Y;CNT=5 +17 7577097 COSM11516 C A . . GENE=TP53;STRAND=-;CDS=c.841G>T;AA=p.D281Y;CNT=5 +17 7577097 COSM146336 C T . . GENE=TP53_ENST00000269305;STRAND=-;CDS=c.841G>A;AA=p.D281N;CNT=2 +17 7577097 COSM43596 C T . . GENE=TP53;STRAND=-;CDS=c.841G>A;AA=p.D281N;CNT=2 +17 7577099 COSM11287 C A . . GENE=TP53;STRAND=-;CDS=c.839G>T;AA=p.R280I;CNT=4 +17 7577099 COSM254987 C G . . GENE=TP53_ENST00000269305;STRAND=-;CDS=c.839G>C;AA=p.R280T;CNT=4 +17 7577099 COSM10728 C T . . GENE=TP53;STRAND=-;CDS=c.839G>A;AA=p.R280K;CNT=2 +17 7577099 COSM10724 C G . . GENE=TP53;STRAND=-;CDS=c.839G>C;AA=p.R280T;CNT=4 +17 7577099 COSM129830 C T . . GENE=TP53_ENST00000269305;STRAND=-;CDS=c.839G>A;AA=p.R280K;CNT=2 +17 7577099 COSM562340 C A . . GENE=TP53_ENST00000269305;STRAND=-;CDS=c.839G>T;AA=p.R280I;CNT=3 +17 7577100 COSM562339 T C . . GENE=TP53_ENST00000269305;STRAND=-;CDS=c.838A>G;AA=p.R280G;CNT=1 +17 7577100 COSM11123 T C . . GENE=TP53;STRAND=-;CDS=c.838A>G;AA=p.R280G;CNT=1 +17 7577102 COSM43714 C T . . GENE=TP53;STRAND=-;CDS=c.836G>A;AA=p.G279E;CNT=1 +17 7577103 COSM46298 C G . . GENE=TP53;STRAND=-;CDS=c.835G>C;AA=p.G279R;CNT=1 +17 7577103 COSM417973 C G . . GENE=TP53_ENST00000269305;STRAND=-;CDS=c.835G>C;AA=p.G279R;CNT=1 +17 7577105 COSM43755 G T . . GENE=TP53;STRAND=-;CDS=c.833C>A;AA=p.P278H;CNT=3 +17 7577105 COSM300205 G C . . GENE=TP53_ENST00000269305;STRAND=-;CDS=c.833C>G;AA=p.P278R;CNT=2 +17 7577105 COSM10863 G A . . GENE=TP53;STRAND=-;CDS=c.833C>T;AA=p.P278L;CNT=3 +17 7577105 COSM333585 G T . . GENE=TP53_ENST00000269305;STRAND=-;CDS=c.833C>A;AA=p.P278H;CNT=2 +17 7577105 COSM129831 G A . . GENE=TP53_ENST00000269305;STRAND=-;CDS=c.833C>T;AA=p.P278L;CNT=3 +17 7577105 COSM10887 G C . . GENE=TP53;STRAND=-;CDS=c.833C>G;AA=p.P278R;CNT=3 +17 7577106 COSM10814 G C . . GENE=TP53;STRAND=-;CDS=c.832C>G;AA=p.P278A;CNT=3 +17 7577106 COSM368635 G T . . GENE=TP53_ENST00000269305;STRAND=-;CDS=c.832C>A;AA=p.P278T;CNT=2 +17 7577106 COSM43697 G T . . GENE=TP53;STRAND=-;CDS=c.832C>A;AA=p.P278T;CNT=2 +17 7577106 COSM99725 G C . . GENE=TP53_ENST00000269305;STRAND=-;CDS=c.832C>G;AA=p.P278A;CNT=3 +17 7577106 COSM10939 G A . . GENE=TP53;STRAND=-;CDS=c.832C>T;AA=p.P278S;CNT=3 +17 7577106 COSM139044 G A . . GENE=TP53_ENST00000269305;STRAND=-;CDS=c.832C>T;AA=p.P278S;CNT=3 +17 7577107 COSM44972 A T . . GENE=TP53;STRAND=-;CDS=c.831T>A;AA=p.C277*;CNT=1 +17 7577107 COSM417972 A T . . GENE=TP53_ENST00000269305;STRAND=-;CDS=c.831T>A;AA=p.C277*;CNT=1 +17 7577108 COSM10749 C A . . GENE=TP53;STRAND=-;CDS=c.830G>T;AA=p.C277F;CNT=4 +17 7577108 COSM562338 C A . . GENE=TP53_ENST00000269305;STRAND=-;CDS=c.830G>T;AA=p.C277F;CNT=3 +17 7577111 COSM393936 G T . . GENE=TP53_ENST00000269305;STRAND=-;CDS=c.827C>A;AA=p.A276D;CNT=1 +17 7577111 COSM45268 G T . . GENE=TP53;STRAND=-;CDS=c.827C>A;AA=p.A276D;CNT=1 +17 7577112 COSM43663 C G . . GENE=TP53;STRAND=-;CDS=c.826G>C;AA=p.A276P;CNT=1 +17 7577114 COSM10893 C T . . GENE=TP53;STRAND=-;CDS=c.824G>A;AA=p.C275Y;CNT=6 +17 7577114 COSM45413 C G . . GENE=TP53;STRAND=-;CDS=c.824G>C;AA=p.C275S;CNT=1 +17 7577114 COSM1167915 C G . . GENE=TP53_ENST00000269305;STRAND=-;CDS=c.824G>C;AA=p.C275S;CNT=1 +17 7577114 COSM165084 C T . . GENE=TP53_ENST00000269305;STRAND=-;CDS=c.824G>A;AA=p.C275Y;CNT=4 +17 7577114 COSM10701 C A . . GENE=TP53;STRAND=-;CDS=c.824G>T;AA=p.C275F;CNT=2 +17 7577114 COSM99932 C A . . GENE=TP53_ENST00000269305;STRAND=-;CDS=c.824G>T;AA=p.C275F;CNT=2 +17 7577117 COSM165076 A T . . GENE=TP53_ENST00000269305;STRAND=-;CDS=c.821T>A;AA=p.V274D;CNT=1 +17 7577117 COSM43945 A C . . GENE=TP53;STRAND=-;CDS=c.821T>G;AA=p.V274G;CNT=2 +17 7577117 COSM131453 A G . . GENE=TP53_ENST00000269305;STRAND=-;CDS=c.821T>C;AA=p.V274A;CNT=3 +17 7577117 COSM44448 A T . . GENE=TP53;STRAND=-;CDS=c.821T>A;AA=p.V274D;CNT=2 +17 7577117 COSM44393 A G . . GENE=TP53;STRAND=-;CDS=c.821T>C;AA=p.V274A;CNT=3 +17 7577117 COSM241993 A C . . GENE=TP53_ENST00000269305;STRAND=-;CDS=c.821T>G;AA=p.V274G;CNT=1 +17 7577118 COSM44443 C G . . GENE=TP53;STRAND=-;CDS=c.820G>C;AA=p.V274L;CNT=1 +17 7577118 COSM10769 C A . . GENE=TP53;STRAND=-;CDS=c.820G>T;AA=p.V274F;CNT=3 +17 7577118 COSM165075 C A . . GENE=TP53_ENST00000269305;STRAND=-;CDS=c.820G>T;AA=p.V274F;CNT=3 +17 7577118 COSM172146 C G . . GENE=TP53_ENST00000269305;STRAND=-;CDS=c.820G>C;AA=p.V274L;CNT=1 +17 7577119 COSM304198 ACG A . . GENE=TP53;STRAND=-;CDS=c.817_818delCG;AA=p.R273fs*32;CNT=1 +17 7577119 COSM304199 ACG A . . GENE=TP53_ENST00000269305;STRAND=-;CDS=c.817_818delCG;AA=p.R273fs*32;CNT=1 +17 7577120 COSM165077 C G . . GENE=TP53_ENST00000269305;STRAND=-;CDS=c.818G>C;AA=p.R273P;CNT=4 +17 7577120 COSM10660 C T . . GENE=TP53;STRAND=-;CDS=c.818G>A;AA=p.R273H;CNT=36 +17 7577120 COSM43896 C G . . GENE=TP53;STRAND=-;CDS=c.818G>C;AA=p.R273P;CNT=5 +17 7577120 COSM10779 C A . . GENE=TP53;STRAND=-;CDS=c.818G>T;AA=p.R273L;CNT=14 +17 7577120 COSM318169 C A . . GENE=TP53_ENST00000269305;STRAND=-;CDS=c.818G>T;AA=p.R273L;CNT=9 +17 7577120 COSM99729 C T . . GENE=TP53_ENST00000269305;STRAND=-;CDS=c.818G>A;AA=p.R273H;CNT=26 +17 7577120 COSM417969 CGC CTT . . GENE=TP53;STRAND=-;CDS=c.816_817GC>AA;AA=p.R273S;CNT=1 +17 7577120 COSM417970 CGC CTT . . GENE=TP53_ENST00000269305;STRAND=-;CDS=c.816_817GC>AA;AA=p.V272>?;CNT=1 +17 7577121 COSM99933 G A . . GENE=TP53_ENST00000269305;STRAND=-;CDS=c.817C>T;AA=p.R273C;CNT=25 +17 7577121 COSM10659 G A . . GENE=TP53;STRAND=-;CDS=c.817C>T;AA=p.R273C;CNT=32 +17 7577121 COSM43909 G T . . GENE=TP53;STRAND=-;CDS=c.817C>A;AA=p.R273S;CNT=2 +17 7577121 COSM417971 G T . . GENE=TP53_ENST00000269305;STRAND=-;CDS=c.817C>A;AA=p.R273S;CNT=2 +17 7577122 COSM417968 C T . . GENE=TP53_ENST00000269305;STRAND=-;CDS=c.816G>A;AA=p.V272V;CNT=1 +17 7577122 COSM44857 C T . . GENE=TP53;STRAND=-;CDS=c.816G>A;AA=p.V272V;CNT=1 +17 7577122 COSM376176 CAC CTT . . GENE=TP53;STRAND=-;CDS=c.814_815GT>AA;AA=p.V272K;CNT=1 +17 7577122 COSM376177 CAC CTT . . GENE=TP53_ENST00000269305;STRAND=-;CDS=c.814_815GT>AA;AA=p.V272>?;CNT=1 +17 7577123 COSM562337 A C . . GENE=TP53_ENST00000269305;STRAND=-;CDS=c.815T>G;AA=p.V272G;CNT=1 +17 7577123 COSM44870 A C . . GENE=TP53;STRAND=-;CDS=c.815T>G;AA=p.V272G;CNT=1 +17 7577123 COSM13421 AC A . . GENE=TP53;STRAND=-;CDS=c.814delG;AA=p.V272fs*73;CNT=1 +17 7577124 COSM212313 C A . . GENE=TP53_ENST00000269305;STRAND=-;CDS=c.814G>T;AA=p.V272L;CNT=1 +17 7577124 COSM1177737 C G . . GENE=TP53_ENST00000269305;STRAND=-;CDS=c.814G>C;AA=p.V272L;CNT=1 +17 7577124 COSM99950 C T . . GENE=TP53_ENST00000269305;STRAND=-;CDS=c.814G>A;AA=p.V272M;CNT=5 +17 7577124 COSM45898 C G . . GENE=TP53;STRAND=-;CDS=c.814G>C;AA=p.V272L;CNT=1 +17 7577124 COSM10859 C A . . GENE=TP53;STRAND=-;CDS=c.814G>T;AA=p.V272L;CNT=1 +17 7577124 COSM10891 C T . . GENE=TP53;STRAND=-;CDS=c.814G>A;AA=p.V272M;CNT=7 +17 7577125 COSM214520 CT C . . GENE=TP53;STRAND=-;CDS=c.812delA;AA=p.E271fs*74;CNT=1 +17 7577125 COSM214521 CT C . . GENE=TP53_ENST00000269305;STRAND=-;CDS=c.812delA;AA=p.E271fs*74;CNT=1 +17 7577127 COSM131516 C A . . GENE=TP53_ENST00000269305;STRAND=-;CDS=c.811G>T;AA=p.E271*;CNT=2 +17 7577127 COSM43706 C G . . GENE=TP53;STRAND=-;CDS=c.811G>C;AA=p.E271Q;CNT=1 +17 7577127 COSM43750 C A . . GENE=TP53;STRAND=-;CDS=c.811G>T;AA=p.E271*;CNT=3 +17 7577127 COSM165082 C G . . GENE=TP53_ENST00000269305;STRAND=-;CDS=c.811G>C;AA=p.E271Q;CNT=1 +17 7577127 COSM10719 C T . . GENE=TP53;STRAND=-;CDS=c.811G>A;AA=p.E271K;CNT=2 +17 7577127 COSM254988 C T . . GENE=TP53_ENST00000269305;STRAND=-;CDS=c.811G>A;AA=p.E271K;CNT=2 +17 7577128 COSM45297 A C . . GENE=TP53;STRAND=-;CDS=c.810T>G;AA=p.F270L;CNT=1 +17 7577130 COSM44262 A G . . GENE=TP53;STRAND=-;CDS=c.808T>C;AA=p.F270L;CNT=1 +17 7577130 COSM165083 A G . . GENE=TP53_ENST00000269305;STRAND=-;CDS=c.808T>C;AA=p.F270L;CNT=1 +17 7577130 COSM43809 A T . . GENE=TP53;STRAND=-;CDS=c.808T>A;AA=p.F270I;CNT=1 +17 7577130 COSM437484 A T . . GENE=TP53_ENST00000269305;STRAND=-;CDS=c.808T>A;AA=p.F270I;CNT=1 +17 7577138 COSM11392 C G . . GENE=TP53;STRAND=-;CDS=c.800G>C;AA=p.R267P;CNT=2 +17 7577138 COSM707909 C G . . GENE=TP53_ENST00000269305;STRAND=-;CDS=c.800G>C;AA=p.R267P;CNT=2 +17 7577138 COSM13165 C A . . GENE=TP53;STRAND=-;CDS=c.800G>T;AA=p.R267L;CNT=2 +17 7577138 COSM327262 C A . . GENE=TP53_ENST00000269305;STRAND=-;CDS=c.800G>T;AA=p.R267L;CNT=2 +17 7577139 COSM179804 G A . . GENE=TP53_ENST00000269305;STRAND=-;CDS=c.799C>T;AA=p.R267W;CNT=2 +17 7577139 COSM11183 G A . . GENE=TP53;STRAND=-;CDS=c.799C>T;AA=p.R267W;CNT=2 +17 7577141 COSM99952 C A . . GENE=TP53_ENST00000269305;STRAND=-;CDS=c.797G>T;AA=p.G266V;CNT=7 +17 7577141 COSM216410 C T . . GENE=TP53_ENST00000269305;STRAND=-;CDS=c.797G>A;AA=p.G266E;CNT=3 +17 7577141 COSM10867 C T . . GENE=TP53;STRAND=-;CDS=c.797G>A;AA=p.G266E;CNT=3 +17 7577141 COSM10958 C A . . GENE=TP53;STRAND=-;CDS=c.797G>T;AA=p.G266V;CNT=9 +17 7577142 COSM11205 C G . . GENE=TP53;STRAND=-;CDS=c.796G>C;AA=p.G266R;CNT=1 +17 7577142 COSM297539 C A . . GENE=TP53_ENST00000269305;STRAND=-;CDS=c.796G>T;AA=p.G266*;CNT=1 +17 7577142 COSM10794 C T . . GENE=TP53;STRAND=-;CDS=c.796G>A;AA=p.G266R;CNT=2 +17 7577142 COSM318165 C G . . GENE=TP53_ENST00000269305;STRAND=-;CDS=c.796G>C;AA=p.G266R;CNT=1 +17 7577142 COSM44891 C A . . GENE=TP53;STRAND=-;CDS=c.796G>T;AA=p.G266*;CNT=1 +17 7577144 COSM44092 A C . . GENE=TP53;STRAND=-;CDS=c.794T>G;AA=p.L265R;CNT=1 +17 7577144 COSM437485 A C . . GENE=TP53_ENST00000269305;STRAND=-;CDS=c.794T>G;AA=p.L265R;CNT=1 +17 7577144 COSM11011 A G . . GENE=TP53;STRAND=-;CDS=c.794T>C;AA=p.L265P;CNT=1 +17 7577145 COSM69178 GT G . . GENE=TP53;STRAND=-;CDS=c.783-1_792delGTGGTAATCTA;AA=p.?;CNT=1 +17 7577146 COSM69217 T TAGATTACCACTACTC . . GENE=TP53;STRAND=-;CDS=c.791_792ins15;AA=p.L264_L265insSSGNL;CNT=1 +17 7577153 COSM11198 C A . . GENE=TP53;STRAND=-;CDS=c.785G>T;AA=p.G262V;CNT=6 +17 7577153 COSM216411 C A . . GENE=TP53_ENST00000269305;STRAND=-;CDS=c.785G>T;AA=p.G262V;CNT=5 +17 7577156 COSM127199 C A . . GENE=TP53_ENST00000269305;STRAND=-;CDS=c.783-1G>T;AA=p.?;CNT=4 +17 7577156 COSM6913 C A . . GENE=TP53;STRAND=-;CDS=c.783-1G>T;AA=p.?;CNT=4 +17 7577157 COSM1230105 T A . . GENE=TP53_ENST00000269305;STRAND=-;CDS=c.783-2A>T;AA=p.?;CNT=1 +17 7577157 COSM45956 T A . . GENE=TP53;STRAND=-;CDS=c.783-2A>T;AA=p.?;CNT=1 +17 7577498 COSM44640 C A . . GENE=TP53;STRAND=-;CDS=c.782+1G>T;AA=p.?;CNT=2 +17 7577498 COSM473431 C A . . GENE=TP53_ENST00000413465;STRAND=-;CDS=c.782+1G>T;AA=p.?;CNT=1 +17 7577498 COSM395657 C T . . GENE=TP53_ENST00000269305;STRAND=-;CDS=c.782+1G>A;AA=p.?;CNT=1 +17 7577498 COSM43571 C T . . GENE=TP53;STRAND=-;CDS=c.782+1G>A;AA=p.?;CNT=2 +17 7577498 COSM395658 C T . . GENE=TP53_ENST00000413465;STRAND=-;CDS=c.782+1G>A;AA=p.?;CNT=1 +17 7577498 COSM473430 C A . . GENE=TP53_ENST00000269305;STRAND=-;CDS=c.782+1G>T;AA=p.?;CNT=1 +17 7577500 COSM45668 TG T . . GENE=TP53;STRAND=-;CDS=c.780delC;AA=p.S261fs*84;CNT=1 +17 7577504 COSM707904 GTC GAA . . GENE=TP53;STRAND=-;CDS=c.775_776GA>TT;AA=p.D259F;CNT=1 +17 7577504 COSM707905 GTC GAA . . GENE=TP53_ENST00000269305;STRAND=-;CDS=c.775_776GA>TT;AA=p.D259F;CNT=1 +17 7577504 COSM707906 GTC GAA . . GENE=TP53_ENST00000413465;STRAND=-;CDS=c.775_776GA>TT;AA=p.D259F;CNT=1 +17 7577505 COSM707907 T A . . GENE=TP53_ENST00000269305;STRAND=-;CDS=c.776A>T;AA=p.D259V;CNT=1 +17 7577505 COSM43724 T A . . GENE=TP53;STRAND=-;CDS=c.776A>T;AA=p.D259V;CNT=1 +17 7577505 COSM707908 T A . . GENE=TP53_ENST00000413465;STRAND=-;CDS=c.776A>T;AA=p.D259V;CNT=1 +17 7577506 COSM707903 C A . . GENE=TP53_ENST00000413465;STRAND=-;CDS=c.775G>T;AA=p.D259Y;CNT=1 +17 7577506 COSM11552 C A . . GENE=TP53;STRAND=-;CDS=c.775G>T;AA=p.D259Y;CNT=3 +17 7577506 COSM707902 C A . . GENE=TP53_ENST00000269305;STRAND=-;CDS=c.775G>T;AA=p.D259Y;CNT=1 +17 7577509 COSM43568 C A . . GENE=TP53;STRAND=-;CDS=c.772G>T;AA=p.E258*;CNT=3 +17 7577509 COSM173137 C A . . GENE=TP53_ENST00000413465;STRAND=-;CDS=c.772G>T;AA=p.E258*;CNT=3 +17 7577509 COSM173138 C A . . GENE=TP53_ENST00000269305;STRAND=-;CDS=c.772G>T;AA=p.E258*;CNT=3 +17 7577511 COSM43530 A T . . GENE=TP53;STRAND=-;CDS=c.770T>A;AA=p.L257Q;CNT=3 +17 7577511 COSM1230108 A T . . GENE=TP53_ENST00000269305;STRAND=-;CDS=c.770T>A;AA=p.L257Q;CNT=2 +17 7577511 COSM1230109 A T . . GENE=TP53_ENST00000413465;STRAND=-;CDS=c.770T>A;AA=p.L257Q;CNT=2 +17 7577511 COSM1190904 AGTG A . . GENE=TP53;STRAND=-;CDS=c.767_769delCAC;AA=p.T256_L257>M;CNT=1 +17 7577511 COSM1190905 AGTG A . . GENE=TP53_ENST00000269305;STRAND=-;CDS=c.767_769delCAC;AA=p.T256_L257>M;CNT=1 +17 7577511 COSM1190906 AGTG A . . GENE=TP53_ENST00000413465;STRAND=-;CDS=c.767_769delCAC;AA=p.T256_L257>M;CNT=1 +17 7577513 COSM69134 TGTGATGATG T . . GENE=TP53;STRAND=-;CDS=c.759_767delCATCATCAC;AA=p.I254_T256delIIT;CNT=1 +17 7577513 COSM69135 TGTG T . . GENE=TP53;STRAND=-;CDS=c.765_767delCAC;AA=p.T256delT;CNT=2 +17 7577513 COSM1190907 TGTG T . . GENE=TP53_ENST00000269305;STRAND=-;CDS=c.765_767delCAC;AA=p.T256delT;CNT=1 +17 7577513 COSM1190908 TGTG T . . GENE=TP53_ENST00000413465;STRAND=-;CDS=c.765_767delCAC;AA=p.T256delT;CNT=1 +17 7577517 COSM437489 A C . . GENE=TP53_ENST00000413465;STRAND=-;CDS=c.764T>G;AA=p.I255S;CNT=1 +17 7577517 COSM437488 A C . . GENE=TP53_ENST00000269305;STRAND=-;CDS=c.764T>G;AA=p.I255S;CNT=1 +17 7577517 COSM10788 A C . . GENE=TP53;STRAND=-;CDS=c.764T>G;AA=p.I255S;CNT=1 +17 7577518 COSM220790 T A . . GENE=TP53_ENST00000413465;STRAND=-;CDS=c.763A>T;AA=p.I255F;CNT=2 +17 7577518 COSM43651 T A . . GENE=TP53;STRAND=-;CDS=c.763A>T;AA=p.I255F;CNT=2 +17 7577518 COSM220791 T A . . GENE=TP53_ENST00000269305;STRAND=-;CDS=c.763A>T;AA=p.I255F;CNT=2 +17 7577518 COSM45601 TGAT T . . GENE=TP53;STRAND=-;CDS=c.760_762delATC;AA=p.I255delI;CNT=1 +17 7577518 COSM1191147 TGAT T . . GENE=TP53_ENST00000269305;STRAND=-;CDS=c.760_762delATC;AA=p.I255delI;CNT=1 +17 7577518 COSM1191148 TGAT T . . GENE=TP53_ENST00000413465;STRAND=-;CDS=c.760_762delATC;AA=p.I255delI;CNT=1 +17 7577520 COSM45035 A C . . GENE=TP53;STRAND=-;CDS=c.761T>G;AA=p.I254S;CNT=1 +17 7577520 COSM1230107 A C . . GENE=TP53_ENST00000413465;STRAND=-;CDS=c.761T>G;AA=p.I254S;CNT=1 +17 7577520 COSM1230106 A C . . GENE=TP53_ENST00000269305;STRAND=-;CDS=c.761T>G;AA=p.I254S;CNT=1 +17 7577521 COSM307260 T C . . GENE=TP53_ENST00000269305;STRAND=-;CDS=c.760A>G;AA=p.I254V;CNT=1 +17 7577521 COSM307259 T C . . GENE=TP53_ENST00000413465;STRAND=-;CDS=c.760A>G;AA=p.I254V;CNT=1 +17 7577521 COSM44030 T C . . GENE=TP53;STRAND=-;CDS=c.760A>G;AA=p.I254V;CNT=1 +17 7577523 COSM307262 G T . . GENE=TP53_ENST00000269305;STRAND=-;CDS=c.758C>A;AA=p.T253N;CNT=1 +17 7577523 COSM44993 G T . . GENE=TP53;STRAND=-;CDS=c.758C>A;AA=p.T253N;CNT=1 +17 7577523 COSM307261 G T . . GENE=TP53_ENST00000413465;STRAND=-;CDS=c.758C>A;AA=p.T253N;CNT=1 +17 7577524 COSM44247 TGAG T . . GENE=TP53;STRAND=-;CDS=c.754_756delCTC;AA=p.L252delL;CNT=2 +17 7577524 COSM984891 TGAG T . . GENE=TP53_ENST00000269305;STRAND=-;CDS=c.754_756delCTC;AA=p.L252delL;CNT=2 +17 7577524 COSM984893 TGAG T . . GENE=TP53_ENST00000413465;STRAND=-;CDS=c.754_756delCTC;AA=p.L252delL;CNT=2 +17 7577526 COSM148174 A G . . GENE=TP53_ENST00000413465;STRAND=-;CDS=c.755T>C;AA=p.L252P;CNT=1 +17 7577526 COSM44769 A G . . GENE=TP53;STRAND=-;CDS=c.755T>C;AA=p.L252P;CNT=1 +17 7577526 COSM148175 A G . . GENE=TP53_ENST00000269305;STRAND=-;CDS=c.755T>C;AA=p.L252P;CNT=1 +17 7577529 COSM11374 A T . . GENE=TP53;STRAND=-;CDS=c.752T>A;AA=p.I251N;CNT=1 +17 7577529 COSM242660 A T . . GENE=TP53_ENST00000413465;STRAND=-;CDS=c.752T>A;AA=p.I251N;CNT=1 +17 7577529 COSM43829 A C . . GENE=TP53;STRAND=-;CDS=c.752T>G;AA=p.I251S;CNT=1 +17 7577529 COSM242661 A T . . GENE=TP53_ENST00000269305;STRAND=-;CDS=c.752T>A;AA=p.I251N;CNT=1 +17 7577530 COSM169049 T A . . GENE=TP53_ENST00000413465;STRAND=-;CDS=c.751A>T;AA=p.I251F;CNT=1 +17 7577530 COSM169050 T A . . GENE=TP53_ENST00000269305;STRAND=-;CDS=c.751A>T;AA=p.I251F;CNT=1 +17 7577530 COSM43967 T A . . GENE=TP53;STRAND=-;CDS=c.751A>T;AA=p.I251F;CNT=1 +17 7577532 COSM212254 G T . . GENE=TP53_ENST00000413465;STRAND=-;CDS=c.749C>A;AA=p.P250H;CNT=1 +17 7577532 COSM44476 G T . . GENE=TP53;STRAND=-;CDS=c.749C>A;AA=p.P250H;CNT=1 +17 7577532 COSM212111 G A . . GENE=TP53_ENST00000413465;STRAND=-;CDS=c.749C>T;AA=p.P250L;CNT=2 +17 7577532 COSM212255 G T . . GENE=TP53_ENST00000269305;STRAND=-;CDS=c.749C>A;AA=p.P250H;CNT=1 +17 7577532 COSM212112 G A . . GENE=TP53_ENST00000269305;STRAND=-;CDS=c.749C>T;AA=p.P250L;CNT=2 +17 7577532 COSM10771 G A . . GENE=TP53;STRAND=-;CDS=c.749C>T;AA=p.P250L;CNT=4 +17 7577534 COSM10785 C G . . GENE=TP53;STRAND=-;CDS=c.747G>C;AA=p.R249S;CNT=1 +17 7577534 COSM255317 C G . . GENE=TP53_ENST00000413465;STRAND=-;CDS=c.747G>C;AA=p.R249S;CNT=1 +17 7577534 COSM131479 C A . . GENE=TP53_ENST00000413465;STRAND=-;CDS=c.747G>T;AA=p.R249S;CNT=9 +17 7577534 COSM10817 C A . . GENE=TP53;STRAND=-;CDS=c.747G>T;AA=p.R249S;CNT=9 +17 7577534 COSM255318 C G . . GENE=TP53_ENST00000269305;STRAND=-;CDS=c.747G>C;AA=p.R249S;CNT=1 +17 7577534 COSM131478 C A . . GENE=TP53_ENST00000269305;STRAND=-;CDS=c.747G>T;AA=p.R249S;CNT=9 +17 7577535 COSM129833 C T . . GENE=TP53_ENST00000413465;STRAND=-;CDS=c.746G>A;AA=p.R249K;CNT=1 +17 7577535 COSM375643 C G . . GENE=TP53_ENST00000413465;STRAND=-;CDS=c.746G>C;AA=p.R249T;CNT=1 +17 7577535 COSM129832 C T . . GENE=TP53_ENST00000269305;STRAND=-;CDS=c.746G>A;AA=p.R249K;CNT=1 +17 7577535 COSM44091 C T . . GENE=TP53;STRAND=-;CDS=c.746G>A;AA=p.R249K;CNT=1 +17 7577535 COSM375642 C G . . GENE=TP53_ENST00000269305;STRAND=-;CDS=c.746G>C;AA=p.R249T;CNT=1 +17 7577535 COSM326724 C A . . GENE=TP53_ENST00000269305;STRAND=-;CDS=c.746G>T;AA=p.R249M;CNT=4 +17 7577535 COSM43665 C G . . GENE=TP53;STRAND=-;CDS=c.746G>C;AA=p.R249T;CNT=1 +17 7577535 COSM326723 C A . . GENE=TP53_ENST00000413465;STRAND=-;CDS=c.746G>T;AA=p.R249M;CNT=4 +17 7577535 COSM43871 C A . . GENE=TP53;STRAND=-;CDS=c.746G>T;AA=p.R249M;CNT=4 +17 7577536 COSM318150 T A . . GENE=TP53_ENST00000269305;STRAND=-;CDS=c.745A>T;AA=p.R249W;CNT=3 +17 7577536 COSM363278 T C . . GENE=TP53_ENST00000413465;STRAND=-;CDS=c.745A>G;AA=p.R249G;CNT=4 +17 7577536 COSM318149 T A . . GENE=TP53_ENST00000413465;STRAND=-;CDS=c.745A>T;AA=p.R249W;CNT=3 +17 7577536 COSM363277 T C . . GENE=TP53_ENST00000269305;STRAND=-;CDS=c.745A>G;AA=p.R249G;CNT=4 +17 7577536 COSM43629 T A . . GENE=TP53;STRAND=-;CDS=c.745A>T;AA=p.R249W;CNT=3 +17 7577536 COSM10668 T C . . GENE=TP53;STRAND=-;CDS=c.745A>G;AA=p.R249G;CNT=5 +17 7577538 COSM99021 C T . . GENE=TP53_ENST00000545858;STRAND=-;CDS=c.464G>A;AA=p.R155Q;CNT=19 +17 7577538 COSM6549 C A . . GENE=TP53;STRAND=-;CDS=c.743G>T;AA=p.R248L;CNT=7 +17 7577538 COSM340106 C G . . GENE=TP53_ENST00000413465;STRAND=-;CDS=c.743G>C;AA=p.R248P;CNT=4 +17 7577538 COSM241994 C A . . GENE=TP53_ENST00000413465;STRAND=-;CDS=c.743G>T;AA=p.R248L;CNT=7 +17 7577538 COSM241995 C A . . GENE=TP53_ENST00000269305;STRAND=-;CDS=c.743G>T;AA=p.R248L;CNT=7 +17 7577538 COSM11491 C G . . GENE=TP53;STRAND=-;CDS=c.743G>C;AA=p.R248P;CNT=4 +17 7577538 COSM340105 C G . . GENE=TP53_ENST00000269305;STRAND=-;CDS=c.743G>C;AA=p.R248P;CNT=4 +17 7577538 COSM99602 C T . . GENE=TP53_ENST00000269305;STRAND=-;CDS=c.743G>A;AA=p.R248Q;CNT=19 +17 7577538 COSM99020 C T . . GENE=TP53_ENST00000413465;STRAND=-;CDS=c.743G>A;AA=p.R248Q;CNT=19 +17 7577538 COSM10662 C T . . GENE=TP53;STRAND=-;CDS=c.743G>A;AA=p.R248Q;CNT=31 +17 7577538 COSM241996 C A . . GENE=TP53_ENST00000545858;STRAND=-;CDS=c.464G>T;AA=p.R155L;CNT=7 +17 7577538 COSM340107 C G . . GENE=TP53_ENST00000545858;STRAND=-;CDS=c.464G>C;AA=p.R155P;CNT=4 +17 7577538 COSM6545 CGG CAA . . GENE=TP53;STRAND=-;CDS=c.741_742CC>TT;AA=p.R248W;CNT=3 +17 7577538 COSM112036 C CG . . GENE=TP53;STRAND=-;CDS=c.742_743insC;AA=p.R248fs*16;CNT=1 +17 7577538 COSM112039 C CG . . GENE=TP53_ENST00000269305;STRAND=-;CDS=c.742_743insC;AA=p.R248fs*16;CNT=1 +17 7577538 COSM112038 C CG . . GENE=TP53_ENST00000545858;STRAND=-;CDS=c.463_464insC;AA=p.unknown;CNT=1 +17 7577538 COSM112037 C CG . . GENE=TP53_ENST00000413465;STRAND=-;CDS=c.742_743insC;AA=p.R248fs*>39;CNT=1 +17 7577539 COSM120007 G A . . GENE=TP53_ENST00000269305;STRAND=-;CDS=c.742C>T;AA=p.R248W;CNT=36 +17 7577539 COSM10656 G A . . GENE=TP53;STRAND=-;CDS=c.742C>T;AA=p.R248W;CNT=46 +17 7577539 COSM120005 G A . . GENE=TP53_ENST00000413465;STRAND=-;CDS=c.742C>T;AA=p.R248W;CNT=36 +17 7577539 COSM1189381 G C . . GENE=TP53_ENST00000269305;STRAND=-;CDS=c.742C>G;AA=p.R248G;CNT=1 +17 7577539 COSM1189383 G C . . GENE=TP53_ENST00000545858;STRAND=-;CDS=c.463C>G;AA=p.R155G;CNT=1 +17 7577539 COSM1189382 G C . . GENE=TP53_ENST00000413465;STRAND=-;CDS=c.742C>G;AA=p.R248G;CNT=1 +17 7577539 COSM11564 G C . . GENE=TP53;STRAND=-;CDS=c.742C>G;AA=p.R248G;CNT=2 +17 7577539 COSM120006 G A . . GENE=TP53_ENST00000545858;STRAND=-;CDS=c.463C>T;AA=p.R155W;CNT=36 +17 7577541 COSM369278 T A . . GENE=TP53_ENST00000413465;STRAND=-;CDS=c.740A>T;AA=p.N247I;CNT=2 +17 7577541 COSM43995 T A . . GENE=TP53;STRAND=-;CDS=c.740A>T;AA=p.N247I;CNT=2 +17 7577541 COSM369277 T A . . GENE=TP53_ENST00000269305;STRAND=-;CDS=c.740A>T;AA=p.N247I;CNT=2 +17 7577541 COSM369279 T A . . GENE=TP53_ENST00000545858;STRAND=-;CDS=c.461A>T;AA=p.N154I;CNT=2 +17 7577543 COSM10757 C G . . GENE=TP53;STRAND=-;CDS=c.738G>C;AA=p.M246I;CNT=1 +17 7577543 COSM1196423 C G . . GENE=TP53_ENST00000413465;STRAND=-;CDS=c.738G>C;AA=p.M246I;CNT=1 +17 7577543 COSM1196424 C G . . GENE=TP53_ENST00000545858;STRAND=-;CDS=c.459G>C;AA=p.M153I;CNT=1 +17 7577543 COSM1196422 C G . . GENE=TP53_ENST00000269305;STRAND=-;CDS=c.738G>C;AA=p.M246I;CNT=1 +17 7577544 COSM213119 A G . . GENE=TP53_ENST00000413465;STRAND=-;CDS=c.737T>C;AA=p.M246T;CNT=1 +17 7577544 COSM213121 A G . . GENE=TP53_ENST00000545858;STRAND=-;CDS=c.458T>C;AA=p.M153T;CNT=1 +17 7577544 COSM213120 A G . . GENE=TP53_ENST00000269305;STRAND=-;CDS=c.737T>C;AA=p.M246T;CNT=1 +17 7577544 COSM11355 A G . . GENE=TP53;STRAND=-;CDS=c.737T>C;AA=p.M246T;CNT=1 +17 7577544 COSM111715 ATGCCGC A . . GENE=TP53;STRAND=-;CDS=c.731_736delGCGGCA;AA=p.G244_M246>V;CNT=1 +17 7577544 COSM111718 ATGCCGC A . . GENE=TP53_ENST00000269305;STRAND=-;CDS=c.731_736delGCGGCA;AA=p.G244_M246>V;CNT=1 +17 7577544 COSM111716 ATGCCGC A . . GENE=TP53_ENST00000413465;STRAND=-;CDS=c.731_736delGCGGCA;AA=p.G244_M246>V;CNT=1 +17 7577544 COSM111717 ATGCCGC A . . GENE=TP53_ENST00000545858;STRAND=-;CDS=c.452_457delGCGGCA;AA=p.G151_M153>V;CNT=1 +17 7577547 COSM179806 C T . . GENE=TP53_ENST00000269305;STRAND=-;CDS=c.734G>A;AA=p.G245D;CNT=5 +17 7577547 COSM131475 C A . . GENE=TP53_ENST00000269305;STRAND=-;CDS=c.734G>T;AA=p.G245V;CNT=5 +17 7577547 COSM179807 C T . . GENE=TP53_ENST00000545858;STRAND=-;CDS=c.455G>A;AA=p.G152D;CNT=5 +17 7577547 COSM11196 C A . . GENE=TP53;STRAND=-;CDS=c.734G>T;AA=p.G245V;CNT=7 +17 7577547 COSM43606 C T . . GENE=TP53;STRAND=-;CDS=c.734G>A;AA=p.G245D;CNT=7 +17 7577547 COSM179805 C T . . GENE=TP53_ENST00000413465;STRAND=-;CDS=c.734G>A;AA=p.G245D;CNT=5 +17 7577547 COSM131477 C A . . GENE=TP53_ENST00000545858;STRAND=-;CDS=c.455G>T;AA=p.G152V;CNT=5 +17 7577547 COSM131476 C A . . GENE=TP53_ENST00000413465;STRAND=-;CDS=c.734G>T;AA=p.G245V;CNT=5 +17 7577548 COSM562651 C A . . GENE=TP53_ENST00000269305;STRAND=-;CDS=c.733G>T;AA=p.G245C;CNT=5 +17 7577548 COSM11081 C A . . GENE=TP53;STRAND=-;CDS=c.733G>T;AA=p.G245C;CNT=6 +17 7577548 COSM562652 C A . . GENE=TP53_ENST00000413465;STRAND=-;CDS=c.733G>T;AA=p.G245C;CNT=5 +17 7577548 COSM121035 C T . . GENE=TP53_ENST00000269305;STRAND=-;CDS=c.733G>A;AA=p.G245S;CNT=12 +17 7577548 COSM10957 C G . . GENE=TP53;STRAND=-;CDS=c.733G>C;AA=p.G245R;CNT=1 +17 7577548 COSM121037 C T . . GENE=TP53_ENST00000545858;STRAND=-;CDS=c.454G>A;AA=p.G152S;CNT=12 +17 7577548 COSM121036 C T . . GENE=TP53_ENST00000413465;STRAND=-;CDS=c.733G>A;AA=p.G245S;CNT=12 +17 7577548 COSM6932 C T . . GENE=TP53;STRAND=-;CDS=c.733G>A;AA=p.G245S;CNT=15 +17 7577548 COSM562653 C A . . GENE=TP53_ENST00000545858;STRAND=-;CDS=c.454G>T;AA=p.G152C;CNT=5 +17 7577550 COSM179810 C T . . GENE=TP53_ENST00000545858;STRAND=-;CDS=c.452G>A;AA=p.G151D;CNT=3 +17 7577550 COSM179808 C T . . GENE=TP53_ENST00000413465;STRAND=-;CDS=c.731G>A;AA=p.G244D;CNT=3 +17 7577550 COSM10883 C T . . GENE=TP53;STRAND=-;CDS=c.731G>A;AA=p.G244D;CNT=4 +17 7577550 COSM179809 C T . . GENE=TP53_ENST00000269305;STRAND=-;CDS=c.731G>A;AA=p.G244D;CNT=3 +17 7577551 COSM673604 C G . . GENE=TP53_ENST00000545858;STRAND=-;CDS=c.451G>C;AA=p.G151R;CNT=1 +17 7577551 COSM673602 C G . . GENE=TP53_ENST00000413465;STRAND=-;CDS=c.730G>C;AA=p.G244R;CNT=1 +17 7577551 COSM11524 C A . . GENE=TP53;STRAND=-;CDS=c.730G>T;AA=p.G244C;CNT=5 +17 7577551 COSM99683 C A . . GENE=TP53_ENST00000413465;STRAND=-;CDS=c.730G>T;AA=p.G244C;CNT=3 +17 7577551 COSM10941 C T . . GENE=TP53;STRAND=-;CDS=c.730G>A;AA=p.G244S;CNT=1 +17 7577551 COSM984901 C T . . GENE=TP53_ENST00000545858;STRAND=-;CDS=c.451G>A;AA=p.G151S;CNT=1 +17 7577551 COSM673603 C G . . GENE=TP53_ENST00000269305;STRAND=-;CDS=c.730G>C;AA=p.G244R;CNT=1 +17 7577551 COSM44221 C G . . GENE=TP53;STRAND=-;CDS=c.730G>C;AA=p.G244R;CNT=1 +17 7577551 COSM984898 C T . . GENE=TP53_ENST00000269305;STRAND=-;CDS=c.730G>A;AA=p.G244S;CNT=1 +17 7577551 COSM99685 C A . . GENE=TP53_ENST00000269305;STRAND=-;CDS=c.730G>T;AA=p.G244C;CNT=3 +17 7577551 COSM984900 C T . . GENE=TP53_ENST00000413465;STRAND=-;CDS=c.730G>A;AA=p.G244S;CNT=1 +17 7577551 COSM99684 C A . . GENE=TP53_ENST00000545858;STRAND=-;CDS=c.451G>T;AA=p.G151C;CNT=3 +17 7577555 COSM1196893 G C . . GENE=TP53_ENST00000545858;STRAND=-;CDS=c.447C>G;AA=p.C149W;CNT=2 +17 7577555 COSM11356 G C . . GENE=TP53;STRAND=-;CDS=c.726C>G;AA=p.C242W;CNT=2 +17 7577555 COSM1196892 G C . . GENE=TP53_ENST00000413465;STRAND=-;CDS=c.726C>G;AA=p.C242W;CNT=2 +17 7577555 COSM1196891 G C . . GENE=TP53_ENST00000269305;STRAND=-;CDS=c.726C>G;AA=p.C242W;CNT=2 +17 7577556 COSM251396 C T . . GENE=TP53_ENST00000413465;STRAND=-;CDS=c.725G>A;AA=p.C242Y;CNT=1 +17 7577556 COSM251398 C T . . GENE=TP53_ENST00000545858;STRAND=-;CDS=c.446G>A;AA=p.C149Y;CNT=1 +17 7577556 COSM10810 C A . . GENE=TP53;STRAND=-;CDS=c.725G>T;AA=p.C242F;CNT=6 +17 7577556 COSM129835 C A . . GENE=TP53_ENST00000413465;STRAND=-;CDS=c.725G>T;AA=p.C242F;CNT=6 +17 7577556 COSM251397 C T . . GENE=TP53_ENST00000269305;STRAND=-;CDS=c.725G>A;AA=p.C242Y;CNT=1 +17 7577556 COSM129836 C A . . GENE=TP53_ENST00000545858;STRAND=-;CDS=c.446G>T;AA=p.C149F;CNT=6 +17 7577556 COSM129834 C A . . GENE=TP53_ENST00000269305;STRAND=-;CDS=c.725G>T;AA=p.C242F;CNT=6 +17 7577556 COSM10646 C T . . GENE=TP53;STRAND=-;CDS=c.725G>A;AA=p.C242Y;CNT=1 +17 7577556 COSM85578 CAGGAACTGTTAC C . . GENE=TP53;STRAND=-;CDS=c.713_724del12;AA=p.N239_C242del;CNT=1 +17 7577557 COSM44935 A T . . GENE=TP53;STRAND=-;CDS=c.724T>A;AA=p.C242S;CNT=1 +17 7577557 COSM342677 A T . . GENE=TP53_ENST00000269305;STRAND=-;CDS=c.724T>A;AA=p.C242S;CNT=1 +17 7577557 COSM342678 A T . . GENE=TP53_ENST00000413465;STRAND=-;CDS=c.724T>A;AA=p.C242S;CNT=1 +17 7577557 COSM342679 A T . . GENE=TP53_ENST00000545858;STRAND=-;CDS=c.445T>A;AA=p.C149S;CNT=1 +17 7577559 COSM10812 G A . . GENE=TP53;STRAND=-;CDS=c.722C>T;AA=p.S241F;CNT=10 +17 7577559 COSM214170 G A . . GENE=TP53_ENST00000413465;STRAND=-;CDS=c.722C>T;AA=p.S241F;CNT=5 +17 7577559 COSM437502 G C . . GENE=TP53_ENST00000413465;STRAND=-;CDS=c.722C>G;AA=p.S241C;CNT=1 +17 7577559 COSM1230112 G T . . GENE=TP53_ENST00000545858;STRAND=-;CDS=c.443C>A;AA=p.S148Y;CNT=1 +17 7577559 COSM1230110 G T . . GENE=TP53_ENST00000269305;STRAND=-;CDS=c.722C>A;AA=p.S241Y;CNT=1 +17 7577559 COSM10935 G T . . GENE=TP53;STRAND=-;CDS=c.722C>A;AA=p.S241Y;CNT=2 +17 7577559 COSM10709 G C . . GENE=TP53;STRAND=-;CDS=c.722C>G;AA=p.S241C;CNT=1 +17 7577559 COSM214171 G A . . GENE=TP53_ENST00000269305;STRAND=-;CDS=c.722C>T;AA=p.S241F;CNT=5 +17 7577559 COSM1230111 G T . . GENE=TP53_ENST00000413465;STRAND=-;CDS=c.722C>A;AA=p.S241Y;CNT=1 +17 7577559 COSM437503 G C . . GENE=TP53_ENST00000545858;STRAND=-;CDS=c.443C>G;AA=p.S148C;CNT=1 +17 7577559 COSM437501 G C . . GENE=TP53_ENST00000269305;STRAND=-;CDS=c.722C>G;AA=p.S241C;CNT=1 +17 7577559 COSM214172 G A . . GENE=TP53_ENST00000545858;STRAND=-;CDS=c.443C>T;AA=p.S148F;CNT=5 +17 7577562 COSM111370 CTGTTACACA C . . GENE=TP53;STRAND=-;CDS=c.710_718delTGTGTAACA;AA=p.M237_N239delMCN;CNT=1 +17 7577562 COSM111373 CTGTTACACA C . . GENE=TP53_ENST00000269305;STRAND=-;CDS=c.710_718delTGTGTAACA;AA=p.M237_N239delMCN;CNT=1 +17 7577562 COSM111371 CTGTTACACA C . . GENE=TP53_ENST00000413465;STRAND=-;CDS=c.710_718delTGTGTAACA;AA=p.M237_N239delMCN;CNT=1 +17 7577562 COSM111372 CTGTTACACA C . . GENE=TP53_ENST00000545858;STRAND=-;CDS=c.431_439delTGTGTAACA;AA=p.M144_N146delMCN;CNT=1 +17 7577564 COSM308202 G GT . . GENE=TP53;STRAND=-;CDS=c.716_717insA;AA=p.N239fs*25;CNT=1 +17 7577564 COSM308205 G GT . . GENE=TP53_ENST00000545858;STRAND=-;CDS=c.437_438insA;AA=p.N146fs*>10;CNT=1 +17 7577564 COSM308203 G GT . . GENE=TP53_ENST00000413465;STRAND=-;CDS=c.716_717insA;AA=p.N239fs*>48;CNT=1 +17 7577564 COSM308204 G GT . . GENE=TP53_ENST00000269305;STRAND=-;CDS=c.716_717insA;AA=p.N239fs*25;CNT=1 +17 7577565 COSM44094 T C . . GENE=TP53;STRAND=-;CDS=c.716A>G;AA=p.N239S;CNT=4 +17 7577565 COSM473433 T C . . GENE=TP53_ENST00000413465;STRAND=-;CDS=c.716A>G;AA=p.N239S;CNT=3 +17 7577565 COSM473432 T C . . GENE=TP53_ENST00000269305;STRAND=-;CDS=c.716A>G;AA=p.N239S;CNT=3 +17 7577565 COSM473434 T C . . GENE=TP53_ENST00000545858;STRAND=-;CDS=c.437A>G;AA=p.N146S;CNT=3 +17 7577566 COSM984914 T C . . GENE=TP53_ENST00000269305;STRAND=-;CDS=c.715A>G;AA=p.N239D;CNT=1 +17 7577566 COSM984917 T C . . GENE=TP53_ENST00000545858;STRAND=-;CDS=c.436A>G;AA=p.N146D;CNT=1 +17 7577566 COSM10777 T C . . GENE=TP53;STRAND=-;CDS=c.715A>G;AA=p.N239D;CNT=1 +17 7577566 COSM984916 T C . . GENE=TP53_ENST00000413465;STRAND=-;CDS=c.715A>G;AA=p.N239D;CNT=1 +17 7577566 COSM69195 T TA . . GENE=TP53;STRAND=-;CDS=c.714_715insT;AA=p.N239fs*1;CNT=2 +17 7577566 COSM112005 T TA . . GENE=TP53_ENST00000269305;STRAND=-;CDS=c.714_715insT;AA=p.N239fs*1;CNT=1 +17 7577566 COSM112003 T TA . . GENE=TP53_ENST00000413465;STRAND=-;CDS=c.714_715insT;AA=p.N239fs*1;CNT=1 +17 7577566 COSM112004 T TA . . GENE=TP53_ENST00000545858;STRAND=-;CDS=c.435_436insT;AA=p.N146fs*1;CNT=1 +17 7577567 COSM1179295 A C . . GENE=TP53_ENST00000269305;STRAND=-;CDS=c.714T>G;AA=p.C238W;CNT=1 +17 7577567 COSM44676 A C . . GENE=TP53;STRAND=-;CDS=c.714T>G;AA=p.C238W;CNT=1 +17 7577567 COSM1179297 A C . . GENE=TP53_ENST00000545858;STRAND=-;CDS=c.435T>G;AA=p.C145W;CNT=1 +17 7577567 COSM1179296 A C . . GENE=TP53_ENST00000413465;STRAND=-;CDS=c.714T>G;AA=p.C238W;CNT=1 +17 7577568 COSM99625 C A . . GENE=TP53_ENST00000545858;STRAND=-;CDS=c.434G>T;AA=p.C145F;CNT=4 +17 7577568 COSM44653 C G . . GENE=TP53;STRAND=-;CDS=c.713G>C;AA=p.C238S;CNT=1 +17 7577568 COSM179812 C T . . GENE=TP53_ENST00000269305;STRAND=-;CDS=c.713G>A;AA=p.C238Y;CNT=5 +17 7577568 COSM43778 C A . . GENE=TP53;STRAND=-;CDS=c.713G>T;AA=p.C238F;CNT=4 +17 7577568 COSM179811 C T . . GENE=TP53_ENST00000413465;STRAND=-;CDS=c.713G>A;AA=p.C238Y;CNT=5 +17 7577568 COSM99626 C A . . GENE=TP53_ENST00000269305;STRAND=-;CDS=c.713G>T;AA=p.C238F;CNT=4 +17 7577568 COSM99624 C A . . GENE=TP53_ENST00000413465;STRAND=-;CDS=c.713G>T;AA=p.C238F;CNT=4 +17 7577568 COSM11059 C T . . GENE=TP53;STRAND=-;CDS=c.713G>A;AA=p.C238Y;CNT=6 +17 7577568 COSM249081 C G . . GENE=TP53_ENST00000545858;STRAND=-;CDS=c.434G>C;AA=p.C145S;CNT=1 +17 7577568 COSM249080 C G . . GENE=TP53_ENST00000269305;STRAND=-;CDS=c.713G>C;AA=p.C238S;CNT=1 +17 7577568 COSM179813 C T . . GENE=TP53_ENST00000545858;STRAND=-;CDS=c.434G>A;AA=p.C145Y;CNT=5 +17 7577568 COSM249079 C G . . GENE=TP53_ENST00000413465;STRAND=-;CDS=c.713G>C;AA=p.C238S;CNT=1 +17 7577570 COSM99647 C T . . GENE=TP53_ENST00000545858;STRAND=-;CDS=c.432G>A;AA=p.M144I;CNT=2 +17 7577570 COSM1189385 C G . . GENE=TP53_ENST00000413465;STRAND=-;CDS=c.711G>C;AA=p.M237I;CNT=1 +17 7577570 COSM1189384 C G . . GENE=TP53_ENST00000269305;STRAND=-;CDS=c.711G>C;AA=p.M237I;CNT=1 +17 7577570 COSM301403 C A . . GENE=TP53_ENST00000269305;STRAND=-;CDS=c.711G>T;AA=p.M237I;CNT=2 +17 7577570 COSM301404 C A . . GENE=TP53_ENST00000545858;STRAND=-;CDS=c.432G>T;AA=p.M144I;CNT=2 +17 7577570 COSM44415 C G . . GENE=TP53;STRAND=-;CDS=c.711G>C;AA=p.M237I;CNT=1 +17 7577570 COSM99646 C T . . GENE=TP53_ENST00000413465;STRAND=-;CDS=c.711G>A;AA=p.M237I;CNT=2 +17 7577570 COSM99648 C T . . GENE=TP53_ENST00000269305;STRAND=-;CDS=c.711G>A;AA=p.M237I;CNT=2 +17 7577570 COSM301402 C A . . GENE=TP53_ENST00000413465;STRAND=-;CDS=c.711G>T;AA=p.M237I;CNT=2 +17 7577570 COSM10834 C T . . GENE=TP53;STRAND=-;CDS=c.711G>A;AA=p.M237I;CNT=3 +17 7577570 COSM1189386 C G . . GENE=TP53_ENST00000545858;STRAND=-;CDS=c.432G>C;AA=p.M144I;CNT=1 +17 7577570 COSM11063 C A . . GENE=TP53;STRAND=-;CDS=c.711G>T;AA=p.M237I;CNT=3 +17 7577571 COSM984920 A T . . GENE=TP53_ENST00000269305;STRAND=-;CDS=c.710T>A;AA=p.M237K;CNT=1 +17 7577571 COSM984923 A T . . GENE=TP53_ENST00000545858;STRAND=-;CDS=c.431T>A;AA=p.M144K;CNT=1 +17 7577571 COSM984922 A T . . GENE=TP53_ENST00000413465;STRAND=-;CDS=c.710T>A;AA=p.M237K;CNT=1 +17 7577571 COSM43952 A T . . GENE=TP53;STRAND=-;CDS=c.710T>A;AA=p.M237K;CNT=2 +17 7577572 COSM220793 T A . . GENE=TP53_ENST00000269305;STRAND=-;CDS=c.709A>T;AA=p.M237L;CNT=1 +17 7577572 COSM44965 T A . . GENE=TP53;STRAND=-;CDS=c.709A>T;AA=p.M237L;CNT=1 +17 7577572 COSM220794 T A . . GENE=TP53_ENST00000545858;STRAND=-;CDS=c.430A>T;AA=p.M144L;CNT=1 +17 7577572 COSM220792 T A . . GENE=TP53_ENST00000413465;STRAND=-;CDS=c.709A>T;AA=p.M237L;CNT=1 +17 7577573 COSM179814 G C . . GENE=TP53_ENST00000413465;STRAND=-;CDS=c.708C>G;AA=p.Y236*;CNT=1 +17 7577573 COSM179816 G C . . GENE=TP53_ENST00000545858;STRAND=-;CDS=c.429C>G;AA=p.Y143*;CNT=1 +17 7577573 COSM179815 G C . . GENE=TP53_ENST00000269305;STRAND=-;CDS=c.708C>G;AA=p.Y236*;CNT=1 +17 7577573 COSM44960 G C . . GENE=TP53;STRAND=-;CDS=c.708C>G;AA=p.Y236*;CNT=1 +17 7577574 COSM116674 T C . . GENE=TP53_ENST00000269305;STRAND=-;CDS=c.707A>G;AA=p.Y236C;CNT=5 +17 7577574 COSM10731 T C . . GENE=TP53;STRAND=-;CDS=c.707A>G;AA=p.Y236C;CNT=6 +17 7577574 COSM116673 T C . . GENE=TP53_ENST00000545858;STRAND=-;CDS=c.428A>G;AA=p.Y143C;CNT=6 +17 7577574 COSM116672 T C . . GENE=TP53_ENST00000413465;STRAND=-;CDS=c.707A>G;AA=p.Y236C;CNT=5 +17 7577575 COSM43826 A T . . GENE=TP53;STRAND=-;CDS=c.706T>A;AA=p.Y236N;CNT=1 +17 7577575 COSM1157852 A T . . GENE=TP53_ENST00000413465;STRAND=-;CDS=c.706T>A;AA=p.Y236N;CNT=1 +17 7577575 COSM43602 A C . . GENE=TP53;STRAND=-;CDS=c.706T>G;AA=p.Y236D;CNT=1 +17 7577575 COSM129839 A C . . GENE=TP53_ENST00000545858;STRAND=-;CDS=c.427T>G;AA=p.Y143D;CNT=1 +17 7577575 COSM129838 A C . . GENE=TP53_ENST00000413465;STRAND=-;CDS=c.706T>G;AA=p.Y236D;CNT=1 +17 7577575 COSM1157851 A T . . GENE=TP53_ENST00000269305;STRAND=-;CDS=c.706T>A;AA=p.Y236N;CNT=1 +17 7577575 COSM1157853 A T . . GENE=TP53_ENST00000545858;STRAND=-;CDS=c.427T>A;AA=p.Y143N;CNT=1 +17 7577575 COSM129837 A C . . GENE=TP53_ENST00000269305;STRAND=-;CDS=c.706T>G;AA=p.Y236D;CNT=1 +17 7577580 COSM99955 T G . . GENE=TP53_ENST00000269305;STRAND=-;CDS=c.701A>C;AA=p.Y234S;CNT=2 +17 7577580 COSM165072 T C . . GENE=TP53_ENST00000413465;STRAND=-;CDS=c.701A>G;AA=p.Y234C;CNT=7 +17 7577580 COSM165073 T C . . GENE=TP53_ENST00000269305;STRAND=-;CDS=c.701A>G;AA=p.Y234C;CNT=7 +17 7577580 COSM99953 T G . . GENE=TP53_ENST00000413465;STRAND=-;CDS=c.701A>C;AA=p.Y234S;CNT=2 +17 7577580 COSM99954 T G . . GENE=TP53_ENST00000545858;STRAND=-;CDS=c.422A>C;AA=p.Y141S;CNT=2 +17 7577580 COSM43865 T G . . GENE=TP53;STRAND=-;CDS=c.701A>C;AA=p.Y234S;CNT=2 +17 7577580 COSM165074 T C . . GENE=TP53_ENST00000545858;STRAND=-;CDS=c.422A>G;AA=p.Y141C;CNT=7 +17 7577580 COSM10725 T C . . GENE=TP53;STRAND=-;CDS=c.701A>G;AA=p.Y234C;CNT=9 +17 7577581 COSM146343 A C . . GENE=TP53_ENST00000269305;STRAND=-;CDS=c.700T>G;AA=p.Y234D;CNT=1 +17 7577581 COSM11152 A G . . GENE=TP53;STRAND=-;CDS=c.700T>C;AA=p.Y234H;CNT=4 +17 7577581 COSM238605 A G . . GENE=TP53_ENST00000269305;STRAND=-;CDS=c.700T>C;AA=p.Y234H;CNT=4 +17 7577581 COSM220768 A T . . GENE=TP53_ENST00000269305;STRAND=-;CDS=c.700T>A;AA=p.Y234N;CNT=1 +17 7577581 COSM220767 A T . . GENE=TP53_ENST00000413465;STRAND=-;CDS=c.700T>A;AA=p.Y234N;CNT=1 +17 7577581 COSM146344 A C . . GENE=TP53_ENST00000545858;STRAND=-;CDS=c.421T>G;AA=p.Y141D;CNT=1 +17 7577581 COSM220769 A T . . GENE=TP53_ENST00000545858;STRAND=-;CDS=c.421T>A;AA=p.Y141N;CNT=1 +17 7577581 COSM146342 A C . . GENE=TP53_ENST00000413465;STRAND=-;CDS=c.700T>G;AA=p.Y234D;CNT=1 +17 7577581 COSM43956 A T . . GENE=TP53;STRAND=-;CDS=c.700T>A;AA=p.Y234N;CNT=2 +17 7577581 COSM43768 A C . . GENE=TP53;STRAND=-;CDS=c.700T>G;AA=p.Y234D;CNT=1 +17 7577581 COSM238606 A G . . GENE=TP53_ENST00000545858;STRAND=-;CDS=c.421T>C;AA=p.Y141H;CNT=4 +17 7577581 COSM238604 A G . . GENE=TP53_ENST00000413465;STRAND=-;CDS=c.700T>C;AA=p.Y234H;CNT=4 +17 7577584 COSM69170 GGATGGTGGTACA G . . GENE=TP53;STRAND=-;CDS=c.685_696del12;AA=p.C229_I232delCTTI;CNT=1 +17 7577585 COSM166246 G GCCA . . GENE=TP53_ENST00000413465;STRAND=-;CDS=c.695_696insTGG;AA=p.I232_H233insG;CNT=1 +17 7577585 COSM166245 G GCCA . . GENE=TP53;STRAND=-;CDS=c.695_696insTGG;AA=p.I232_H233insG;CNT=1 +17 7577585 COSM166247 G GCCA . . GENE=TP53_ENST00000269305;STRAND=-;CDS=c.695_696insTGG;AA=p.I232_H233insG;CNT=1 +17 7577585 COSM166248 G GCCA . . GENE=TP53_ENST00000545858;STRAND=-;CDS=c.416_417insTGG;AA=p.I139_H140insG;CNT=1 +17 7577586 COSM984924 A G . . GENE=TP53_ENST00000269305;STRAND=-;CDS=c.695T>C;AA=p.I232T;CNT=2 +17 7577586 COSM984927 A G . . GENE=TP53_ENST00000545858;STRAND=-;CDS=c.416T>C;AA=p.I139T;CNT=2 +17 7577586 COSM984926 A G . . GENE=TP53_ENST00000413465;STRAND=-;CDS=c.695T>C;AA=p.I232T;CNT=2 +17 7577586 COSM10715 A T . . GENE=TP53;STRAND=-;CDS=c.695T>A;AA=p.I232N;CNT=1 +17 7577586 COSM44601 A G . . GENE=TP53;STRAND=-;CDS=c.695T>C;AA=p.I232T;CNT=2 +17 7577587 COSM43550 T A . . GENE=TP53;STRAND=-;CDS=c.694A>T;AA=p.I232F;CNT=2 +17 7577587 COSM562649 T A . . GENE=TP53_ENST00000413465;STRAND=-;CDS=c.694A>T;AA=p.I232F;CNT=2 +17 7577587 COSM562648 T A . . GENE=TP53_ENST00000269305;STRAND=-;CDS=c.694A>T;AA=p.I232F;CNT=2 +17 7577587 COSM562650 T A . . GENE=TP53_ENST00000545858;STRAND=-;CDS=c.415A>T;AA=p.I139F;CNT=2 +17 7577588 COSM44113 G A . . GENE=TP53;STRAND=-;CDS=c.693C>T;AA=p.T231T;CNT=1 +17 7577588 COSM287983 G A . . GENE=TP53_ENST00000545858;STRAND=-;CDS=c.414C>T;AA=p.T138T;CNT=1 +17 7577588 COSM287982 G A . . GENE=TP53_ENST00000269305;STRAND=-;CDS=c.693C>T;AA=p.T231T;CNT=1 +17 7577588 COSM287981 G A . . GENE=TP53_ENST00000413465;STRAND=-;CDS=c.693C>T;AA=p.T231T;CNT=1 +17 7577590 COSM1193070 TGGT T . . GENE=TP53;STRAND=-;CDS=c.688_690delACC;AA=p.T231delT;CNT=1 +17 7577590 COSM1193071 TGGT T . . GENE=TP53_ENST00000269305;STRAND=-;CDS=c.688_690delACC;AA=p.T231delT;CNT=1 +17 7577590 COSM1193072 TGGT T . . GENE=TP53_ENST00000413465;STRAND=-;CDS=c.688_690delACC;AA=p.T231delT;CNT=1 +17 7577590 COSM1193073 TGGT T . . GENE=TP53_ENST00000545858;STRAND=-;CDS=c.409_411delACC;AA=p.T138delT;CNT=1 +17 7577593 COSM44360 TAC T . . GENE=TP53;STRAND=-;CDS=c.686_687delGT;AA=p.C229fs*10;CNT=1 +17 7577593 COSM111637 TAC T . . GENE=TP53_ENST00000269305;STRAND=-;CDS=c.686_687delGT;AA=p.C229fs*10;CNT=1 +17 7577593 COSM111635 TAC T . . GENE=TP53_ENST00000413465;STRAND=-;CDS=c.686_687delGT;AA=p.C229fs*10;CNT=1 +17 7577593 COSM111636 TAC T . . GENE=TP53_ENST00000545858;STRAND=-;CDS=c.407_408delGT;AA=p.C136fs*10;CNT=1 +17 7577595 COSM308323 C A . . GENE=TP53_ENST00000413465;STRAND=-;CDS=c.686G>T;AA=p.C229F;CNT=1 +17 7577595 COSM308324 C A . . GENE=TP53_ENST00000269305;STRAND=-;CDS=c.686G>T;AA=p.C229F;CNT=1 +17 7577595 COSM308325 C A . . GENE=TP53_ENST00000545858;STRAND=-;CDS=c.407G>T;AA=p.C136F;CNT=1 +17 7577595 COSM308322 C A . . GENE=TP53;STRAND=-;CDS=c.686G>T;AA=p.C229F;CNT=1 +17 7577595 COSM308337 C CT . . GENE=TP53;STRAND=-;CDS=c.685_686insA;AA=p.C229fs*1;CNT=1 +17 7577595 COSM308339 C CT . . GENE=TP53_ENST00000269305;STRAND=-;CDS=c.685_686insA;AA=p.C229fs*1;CNT=1 +17 7577595 COSM308340 C CT . . GENE=TP53_ENST00000545858;STRAND=-;CDS=c.406_407insA;AA=p.C136fs*1;CNT=1 +17 7577595 COSM308338 C CT . . GENE=TP53_ENST00000413465;STRAND=-;CDS=c.685_686insA;AA=p.C229fs*1;CNT=1 +17 7577599 COSM69213 C CA . . GENE=TP53;STRAND=-;CDS=c.681_682insT;AA=p.D228fs*1;CNT=1 +17 7577603 COSM392089 GCCAACCTAGGAGATAACACAGGC G . . GENE=TP53;STRAND=-;CDS=c.673-18_677del23;AA=p.?;CNT=1 +17 7577603 COSM392090 GCCAACCTAGGAGATAACACAGGC G . . GENE=TP53_ENST00000269305;STRAND=-;CDS=c.673-18_677del23;AA=p.?;CNT=1 +17 7577603 COSM392091 GCCAACCTAGGAGATAACACAGGC G . . GENE=TP53_ENST00000413465;STRAND=-;CDS=c.673-18_677del23;AA=p.?;CNT=1 +17 7577603 COSM392092 GCCAACCTAGGAGATAACACAGGC G . . GENE=TP53_ENST00000545858;STRAND=-;CDS=c.394-18_398del23;AA=p.?;CNT=1 +17 7577604 COSM674003 CC C . . GENE=TP53;STRAND=-;CDS=c.676delG;AA=p.G226fs*21;CNT=1 +17 7577604 COSM674005 CC C . . GENE=TP53_ENST00000269305;STRAND=-;CDS=c.676delG;AA=p.G226fs*21;CNT=1 +17 7577604 COSM674004 CC C . . GENE=TP53_ENST00000413465;STRAND=-;CDS=c.676delG;AA=p.G226fs*21;CNT=1 +17 7577604 COSM674006 CC C . . GENE=TP53_ENST00000545858;STRAND=-;CDS=c.397delG;AA=p.G133fs*21;CNT=1 +17 7577609 COSM45135 C A . . GENE=TP53;STRAND=-;CDS=c.673-1G>T;AA=p.?;CNT=2 +17 7577609 COSM562646 C G . . GENE=TP53_ENST00000413465;STRAND=-;CDS=c.673-1G>C;AA=p.?;CNT=1 +17 7577609 COSM562645 C G . . GENE=TP53_ENST00000269305;STRAND=-;CDS=c.673-1G>C;AA=p.?;CNT=1 +17 7577609 COSM45675 C G . . GENE=TP53;STRAND=-;CDS=c.673-1G>C;AA=p.?;CNT=1 +17 7577609 COSM344604 C A . . GENE=TP53_ENST00000413465;STRAND=-;CDS=c.673-1G>T;AA=p.?;CNT=2 +17 7577609 COSM562647 C G . . GENE=TP53_ENST00000545858;STRAND=-;CDS=c.394-1G>C;AA=p.?;CNT=1 +17 7577609 COSM344605 C A . . GENE=TP53_ENST00000545858;STRAND=-;CDS=c.394-1G>T;AA=p.?;CNT=2 +17 7577609 COSM43751 C T . . GENE=TP53;STRAND=-;CDS=c.673-1G>A;AA=p.?;CNT=1 +17 7577609 COSM344603 C A . . GENE=TP53_ENST00000269305;STRAND=-;CDS=c.673-1G>T;AA=p.?;CNT=2 +17 7577610 COSM118999 T C . . GENE=TP53_ENST00000413465;STRAND=-;CDS=c.673-2A>G;AA=p.?;CNT=2 +17 7577610 COSM323937 T A . . GENE=TP53_ENST00000413465;STRAND=-;CDS=c.673-2A>T;AA=p.?;CNT=1 +17 7577610 COSM6908 T C . . GENE=TP53;STRAND=-;CDS=c.673-2A>G;AA=p.?;CNT=1 +17 7577610 COSM323939 T A . . GENE=TP53_ENST00000545858;STRAND=-;CDS=c.394-2A>T;AA=p.?;CNT=1 +17 7577610 COSM323938 T A . . GENE=TP53_ENST00000269305;STRAND=-;CDS=c.673-2A>T;AA=p.?;CNT=1 +17 7577610 COSM12559 T A . . GENE=TP53;STRAND=-;CDS=c.673-2A>T;AA=p.?;CNT=6 +17 7577610 COSM25225 T C . . GENE=TP53;STRAND=-;CDS=c.673-2A>G;AA=p.?;CNT=1 +17 7577610 COSM119000 T C . . GENE=TP53_ENST00000545858;STRAND=-;CDS=c.394-2A>G;AA=p.?;CNT=2 +17 7577610 COSM119001 T C . . GENE=TP53_ENST00000269305;STRAND=-;CDS=c.673-2A>G;AA=p.?;CNT=2 +17 7577610 COSM41575 T A . . GENE=TP53;STRAND=-;CDS=c.673-2A>T;AA=p.?;CNT=2 +17 7578173 COSM673751 AGACCTCAGGCGGCTCATAGGGCACCACCA A . . GENE=TP53;STRAND=-;CDS=c.647_672+3del29;AA=p.?;CNT=1 +17 7578173 COSM673753 AGACCTCAGGCGGCTCATAGGGCACCACCA A . . GENE=TP53_ENST00000269305;STRAND=-;CDS=c.647_672+3del29;AA=p.?;CNT=1 +17 7578173 COSM673752 AGACCTCAGGCGGCTCATAGGGCACCACCA A . . GENE=TP53_ENST00000413465;STRAND=-;CDS=c.647_672+3del29;AA=p.?;CNT=1 +17 7578173 COSM673754 AGACCTCAGGCGGCTCATAGGGCACCACCA A . . GENE=TP53_ENST00000414315;STRAND=-;CDS=c.251_253-16del29;AA=p.?;CNT=1 +17 7578173 COSM673755 AGACCTCAGGCGGCTCATAGGGCACCACCA A . . GENE=TP53_ENST00000545858;STRAND=-;CDS=c.368_393+3del29;AA=p.?;CNT=1 +17 7578175 COSM165067 A T . . GENE=TP53_ENST00000413465;STRAND=-;CDS=c.672+2T>A;AA=p.?;CNT=1 +17 7578175 COSM562642 A G . . GENE=TP53_ENST00000269305;STRAND=-;CDS=c.672+2T>C;AA=p.?;CNT=1 +17 7578175 COSM562644 A G . . GENE=TP53_ENST00000545858;STRAND=-;CDS=c.393+2T>C;AA=p.?;CNT=1 +17 7578175 COSM165069 A T . . GENE=TP53_ENST00000545858;STRAND=-;CDS=c.393+2T>A;AA=p.?;CNT=1 +17 7578175 COSM165066 A T . . GENE=TP53;STRAND=-;CDS=c.672+2T>A;AA=p.?;CNT=1 +17 7578175 COSM45517 A G . . GENE=TP53;STRAND=-;CDS=c.672+2T>C;AA=p.?;CNT=1 +17 7578175 COSM562643 A G . . GENE=TP53_ENST00000413465;STRAND=-;CDS=c.672+2T>C;AA=p.?;CNT=1 +17 7578175 COSM165068 A T . . GENE=TP53_ENST00000269305;STRAND=-;CDS=c.672+2T>A;AA=p.?;CNT=1 +17 7578176 COSM121038 C G . . GENE=TP53_ENST00000269305;STRAND=-;CDS=c.672+1G>C;AA=p.?;CNT=1 +17 7578176 COSM119012 C T . . GENE=TP53_ENST00000545858;STRAND=-;CDS=c.393+1G>A;AA=p.?;CNT=2 +17 7578176 COSM13586 C A . . GENE=TP53;STRAND=-;CDS=c.672+1G>T;AA=p.?;CNT=3 +17 7578176 COSM118940 C A . . GENE=TP53_ENST00000545858;STRAND=-;CDS=c.393+1G>T;AA=p.?;CNT=2 +17 7578176 COSM119011 C T . . GENE=TP53_ENST00000413465;STRAND=-;CDS=c.672+1G>A;AA=p.?;CNT=2 +17 7578176 COSM6906 C T . . GENE=TP53;STRAND=-;CDS=c.672+1G>A;AA=p.?;CNT=2 +17 7578176 COSM119013 C T . . GENE=TP53_ENST00000269305;STRAND=-;CDS=c.672+1G>A;AA=p.?;CNT=2 +17 7578176 COSM118939 C A . . GENE=TP53_ENST00000413465;STRAND=-;CDS=c.672+1G>T;AA=p.?;CNT=2 +17 7578176 COSM121039 C G . . GENE=TP53_ENST00000413465;STRAND=-;CDS=c.672+1G>C;AA=p.?;CNT=1 +17 7578176 COSM45367 C G . . GENE=TP53;STRAND=-;CDS=c.672+1G>C;AA=p.?;CNT=1 +17 7578176 COSM118941 C A . . GENE=TP53_ENST00000269305;STRAND=-;CDS=c.672+1G>T;AA=p.?;CNT=2 +17 7578176 COSM121040 C G . . GENE=TP53_ENST00000545858;STRAND=-;CDS=c.393+1G>C;AA=p.?;CNT=1 +17 7578177 COSM44754 C T . . GENE=TP53;STRAND=-;CDS=c.672G>A;AA=p.E224E;CNT=3 +17 7578177 COSM707900 C G . . GENE=TP53_ENST00000413465;STRAND=-;CDS=c.672G>C;AA=p.E224D;CNT=2 +17 7578177 COSM707901 C G . . GENE=TP53_ENST00000545858;STRAND=-;CDS=c.393G>C;AA=p.E131D;CNT=2 +17 7578177 COSM326731 C A . . GENE=TP53_ENST00000413465;STRAND=-;CDS=c.672G>T;AA=p.E224D;CNT=2 +17 7578177 COSM11451 C A . . GENE=TP53;STRAND=-;CDS=c.672G>T;AA=p.E224D;CNT=2 +17 7578177 COSM707896 C T . . GENE=TP53_ENST00000269305;STRAND=-;CDS=c.672G>A;AA=p.E224E;CNT=2 +17 7578177 COSM707897 C T . . GENE=TP53_ENST00000413465;STRAND=-;CDS=c.672G>A;AA=p.E224E;CNT=2 +17 7578177 COSM44945 C G . . GENE=TP53;STRAND=-;CDS=c.672G>C;AA=p.E224D;CNT=2 +17 7578177 COSM326732 C A . . GENE=TP53_ENST00000269305;STRAND=-;CDS=c.672G>T;AA=p.E224D;CNT=2 +17 7578177 COSM707899 C G . . GENE=TP53_ENST00000269305;STRAND=-;CDS=c.672G>C;AA=p.E224D;CNT=2 +17 7578177 COSM326733 C A . . GENE=TP53_ENST00000545858;STRAND=-;CDS=c.393G>T;AA=p.E131D;CNT=2 +17 7578177 COSM707898 C T . . GENE=TP53_ENST00000545858;STRAND=-;CDS=c.393G>A;AA=p.E131E;CNT=2 +17 7578178 COSM69018 TCA T . . GENE=TP53;STRAND=-;CDS=c.669_670delTG;AA=p.E224fs*4;CNT=1 +17 7578181 COSM111639 GGC G . . GENE=TP53;STRAND=-;CDS=c.666_667delGC;AA=p.P223fs*1;CNT=1 +17 7578181 COSM111642 GGC G . . GENE=TP53_ENST00000269305;STRAND=-;CDS=c.666_667delGC;AA=p.P223fs*1;CNT=1 +17 7578181 COSM111640 GGC G . . GENE=TP53_ENST00000413465;STRAND=-;CDS=c.666_667delGC;AA=p.P223fs*1;CNT=1 +17 7578181 COSM111641 GGC G . . GENE=TP53_ENST00000545858;STRAND=-;CDS=c.387_388delGC;AA=p.P130fs*1;CNT=1 +17 7578188 COSM126983 C A . . GENE=TP53_ENST00000413465;STRAND=-;CDS=c.661G>T;AA=p.E221*;CNT=3 +17 7578188 COSM126982 C A . . GENE=TP53_ENST00000269305;STRAND=-;CDS=c.661G>T;AA=p.E221*;CNT=3 +17 7578188 COSM126984 C A . . GENE=TP53_ENST00000545858;STRAND=-;CDS=c.382G>T;AA=p.E128*;CNT=3 +17 7578188 COSM44817 C A . . GENE=TP53;STRAND=-;CDS=c.661G>T;AA=p.E221*;CNT=3 +17 7578190 COSM99718 T C . . GENE=TP53_ENST00000413465;STRAND=-;CDS=c.659A>G;AA=p.Y220C;CNT=24 +17 7578190 COSM99719 T C . . GENE=TP53_ENST00000545858;STRAND=-;CDS=c.380A>G;AA=p.Y127C;CNT=24 +17 7578190 COSM99720 T C . . GENE=TP53_ENST00000269305;STRAND=-;CDS=c.659A>G;AA=p.Y220C;CNT=24 +17 7578190 COSM10758 T C . . GENE=TP53;STRAND=-;CDS=c.659A>G;AA=p.Y220C;CNT=30 +17 7578191 COSM1172476 A G . . GENE=TP53_ENST00000269305;STRAND=-;CDS=c.658T>C;AA=p.Y220H;CNT=1 +17 7578191 COSM44637 A G . . GENE=TP53;STRAND=-;CDS=c.658T>C;AA=p.Y220H;CNT=1 +17 7578191 COSM1172479 A G . . GENE=TP53_ENST00000414315;STRAND=-;CDS=c.252+10T>C;AA=p.?;CNT=1 +17 7578191 COSM1172477 A G . . GENE=TP53_ENST00000413465;STRAND=-;CDS=c.658T>C;AA=p.Y220H;CNT=1 +17 7578191 COSM1172478 A G . . GENE=TP53_ENST00000545858;STRAND=-;CDS=c.379T>C;AA=p.Y127H;CNT=1 +17 7578202 COSM119679 A C . . GENE=TP53_ENST00000414315;STRAND=-;CDS=c.251T>G;AA=p.V84G;CNT=1 +17 7578202 COSM707895 A T . . GENE=TP53_ENST00000414315;STRAND=-;CDS=c.251T>A;AA=p.V84E;CNT=1 +17 7578202 COSM119681 A C . . GENE=TP53_ENST00000269305;STRAND=-;CDS=c.647T>G;AA=p.V216G;CNT=1 +17 7578202 COSM43681 A C . . GENE=TP53;STRAND=-;CDS=c.647T>G;AA=p.V216G;CNT=1 +17 7578202 COSM119680 A C . . GENE=TP53_ENST00000545858;STRAND=-;CDS=c.368T>G;AA=p.V123G;CNT=1 +17 7578202 COSM707894 A T . . GENE=TP53_ENST00000545858;STRAND=-;CDS=c.368T>A;AA=p.V123E;CNT=1 +17 7578202 COSM44274 A T . . GENE=TP53;STRAND=-;CDS=c.647T>A;AA=p.V216E;CNT=1 +17 7578202 COSM707892 A T . . GENE=TP53_ENST00000269305;STRAND=-;CDS=c.647T>A;AA=p.V216E;CNT=1 +17 7578202 COSM119678 A C . . GENE=TP53_ENST00000413465;STRAND=-;CDS=c.647T>G;AA=p.V216G;CNT=1 +17 7578202 COSM707893 A T . . GENE=TP53_ENST00000413465;STRAND=-;CDS=c.647T>A;AA=p.V216E;CNT=1 +17 7578203 COSM120095 C T . . GENE=TP53_ENST00000413465;STRAND=-;CDS=c.646G>A;AA=p.V216M;CNT=3 +17 7578203 COSM10667 C T . . GENE=TP53;STRAND=-;CDS=c.646G>A;AA=p.V216M;CNT=4 +17 7578203 COSM120098 C T . . GENE=TP53_ENST00000269305;STRAND=-;CDS=c.646G>A;AA=p.V216M;CNT=3 +17 7578203 COSM120096 C T . . GENE=TP53_ENST00000414315;STRAND=-;CDS=c.250G>A;AA=p.V84M;CNT=3 +17 7578203 COSM120097 C T . . GENE=TP53_ENST00000545858;STRAND=-;CDS=c.367G>A;AA=p.V123M;CNT=3 +17 7578204 COSM220771 A C . . GENE=TP53_ENST00000269305;STRAND=-;CDS=c.645T>G;AA=p.S215R;CNT=2 +17 7578204 COSM220773 A C . . GENE=TP53_ENST00000545858;STRAND=-;CDS=c.366T>G;AA=p.S122R;CNT=2 +17 7578204 COSM45122 A T . . GENE=TP53;STRAND=-;CDS=c.645T>A;AA=p.S215R;CNT=1 +17 7578204 COSM44979 A C . . GENE=TP53;STRAND=-;CDS=c.645T>G;AA=p.S215R;CNT=3 +17 7578204 COSM220772 A C . . GENE=TP53_ENST00000414315;STRAND=-;CDS=c.249T>G;AA=p.S83R;CNT=2 +17 7578204 COSM220770 A C . . GENE=TP53_ENST00000413465;STRAND=-;CDS=c.645T>G;AA=p.S215R;CNT=2 +17 7578205 COSM326721 C A . . GENE=TP53_ENST00000414315;STRAND=-;CDS=c.248G>T;AA=p.S83I;CNT=2 +17 7578205 COSM326720 C A . . GENE=TP53_ENST00000269305;STRAND=-;CDS=c.644G>T;AA=p.S215I;CNT=2 +17 7578205 COSM326719 C A . . GENE=TP53_ENST00000413465;STRAND=-;CDS=c.644G>T;AA=p.S215I;CNT=2 +17 7578205 COSM326722 C A . . GENE=TP53_ENST00000545858;STRAND=-;CDS=c.365G>T;AA=p.S122I;CNT=2 +17 7578205 COSM11450 C A . . GENE=TP53;STRAND=-;CDS=c.644G>T;AA=p.S215I;CNT=2 +17 7578207 COSM128666 AT A . . GENE=TP53;STRAND=-;CDS=c.641delA;AA=p.H214fs*33;CNT=1 +17 7578207 COSM128667 AT A . . GENE=TP53_ENST00000269305;STRAND=-;CDS=c.641delA;AA=p.H214fs*33;CNT=1 +17 7578207 COSM128668 AT A . . GENE=TP53_ENST00000413465;STRAND=-;CDS=c.641delA;AA=p.H214fs*33;CNT=1 +17 7578207 COSM128670 AT A . . GENE=TP53_ENST00000414315;STRAND=-;CDS=c.245delA;AA=p.H82fs*>9;CNT=1 +17 7578207 COSM128669 AT A . . GENE=TP53_ENST00000545858;STRAND=-;CDS=c.362delA;AA=p.H121fs*33;CNT=1 +17 7578208 COSM307279 T C . . GENE=TP53_ENST00000413465;STRAND=-;CDS=c.641A>G;AA=p.H214R;CNT=5 +17 7578208 COSM307281 T C . . GENE=TP53_ENST00000414315;STRAND=-;CDS=c.245A>G;AA=p.H82R;CNT=5 +17 7578208 COSM43687 T C . . GENE=TP53;STRAND=-;CDS=c.641A>G;AA=p.H214R;CNT=6 +17 7578208 COSM307282 T C . . GENE=TP53_ENST00000545858;STRAND=-;CDS=c.362A>G;AA=p.H121R;CNT=5 +17 7578208 COSM307280 T C . . GENE=TP53_ENST00000269305;STRAND=-;CDS=c.641A>G;AA=p.H214R;CNT=5 +17 7578211 COSM131467 C T . . GENE=TP53_ENST00000413465;STRAND=-;CDS=c.638G>A;AA=p.R213Q;CNT=2 +17 7578211 COSM131469 C T . . GENE=TP53_ENST00000414315;STRAND=-;CDS=c.242G>A;AA=p.R81Q;CNT=2 +17 7578211 COSM10735 C T . . GENE=TP53;STRAND=-;CDS=c.638G>A;AA=p.R213Q;CNT=2 +17 7578211 COSM241999 C A . . GENE=TP53_ENST00000414315;STRAND=-;CDS=c.242G>T;AA=p.R81L;CNT=3 +17 7578211 COSM242000 C A . . GENE=TP53_ENST00000545858;STRAND=-;CDS=c.359G>T;AA=p.R120L;CNT=3 +17 7578211 COSM241998 C A . . GENE=TP53_ENST00000269305;STRAND=-;CDS=c.638G>T;AA=p.R213L;CNT=3 +17 7578211 COSM43650 C A . . GENE=TP53;STRAND=-;CDS=c.638G>T;AA=p.R213L;CNT=3 +17 7578211 COSM131466 C T . . GENE=TP53_ENST00000269305;STRAND=-;CDS=c.638G>A;AA=p.R213Q;CNT=2 +17 7578211 COSM241997 C A . . GENE=TP53_ENST00000413465;STRAND=-;CDS=c.638G>T;AA=p.R213L;CNT=3 +17 7578211 COSM131468 C T . . GENE=TP53_ENST00000545858;STRAND=-;CDS=c.359G>A;AA=p.R120Q;CNT=2 +17 7578212 COSM707891 G C . . GENE=TP53_ENST00000414315;STRAND=-;CDS=c.241C>G;AA=p.R81G;CNT=1 +17 7578212 COSM99616 G A . . GENE=TP53_ENST00000414315;STRAND=-;CDS=c.241C>T;AA=p.R81*;CNT=27 +17 7578212 COSM707889 G C . . GENE=TP53_ENST00000413465;STRAND=-;CDS=c.637C>G;AA=p.R213G;CNT=1 +17 7578212 COSM707888 G C . . GENE=TP53_ENST00000269305;STRAND=-;CDS=c.637C>G;AA=p.R213G;CNT=1 +17 7578212 COSM99615 G A . . GENE=TP53_ENST00000413465;STRAND=-;CDS=c.637C>T;AA=p.R213*;CNT=27 +17 7578212 COSM44102 G C . . GENE=TP53;STRAND=-;CDS=c.637C>G;AA=p.R213G;CNT=1 +17 7578212 COSM99617 G A . . GENE=TP53_ENST00000545858;STRAND=-;CDS=c.358C>T;AA=p.R120*;CNT=27 +17 7578212 COSM10654 G A . . GENE=TP53;STRAND=-;CDS=c.637C>T;AA=p.R213*;CNT=28 +17 7578212 COSM99618 G A . . GENE=TP53_ENST00000269305;STRAND=-;CDS=c.637C>T;AA=p.R213*;CNT=27 +17 7578212 COSM707890 G C . . GENE=TP53_ENST00000545858;STRAND=-;CDS=c.358C>G;AA=p.R120G;CNT=1 +17 7578212 COSM128710 G GAA . . GENE=TP53_ENST00000269305;STRAND=-;CDS=c.636_637insTT;AA=p.R213fs*35;CNT=1 +17 7578212 COSM128713 G GAA . . GENE=TP53_ENST00000414315;STRAND=-;CDS=c.240_241insTT;AA=p.R81fs*>11;CNT=1 +17 7578212 COSM128709 G GAA . . GENE=TP53;STRAND=-;CDS=c.636_637insTT;AA=p.R213fs*35;CNT=1 +17 7578212 COSM128711 G GAA . . GENE=TP53_ENST00000413465;STRAND=-;CDS=c.636_637insTT;AA=p.R213fs*35;CNT=1 +17 7578212 COSM128712 G GAA . . GENE=TP53_ENST00000545858;STRAND=-;CDS=c.357_358insTT;AA=p.R120fs*35;CNT=1 +17 7578212 COSM44162 GAA G . . GENE=TP53;STRAND=-;CDS=c.635_636delTT;AA=p.F212fs*3;CNT=1 +17 7578212 COSM292496 GAA G . . GENE=TP53_ENST00000269305;STRAND=-;CDS=c.635_636delTT;AA=p.F212fs*3;CNT=1 +17 7578212 COSM292495 GAA G . . GENE=TP53_ENST00000413465;STRAND=-;CDS=c.635_636delTT;AA=p.F212fs*3;CNT=1 +17 7578212 COSM292497 GAA G . . GENE=TP53_ENST00000414315;STRAND=-;CDS=c.239_240delTT;AA=p.F80fs*3;CNT=1 +17 7578212 COSM292498 GAA G . . GENE=TP53_ENST00000545858;STRAND=-;CDS=c.356_357delTT;AA=p.F119fs*3;CNT=1 +17 7578219 COSM69086 GTTTCT G . . GENE=TP53;STRAND=-;CDS=c.625_629delAGAAA;AA=p.R209fs*5;CNT=1 +17 7578221 COSM13120 TTC T . . GENE=TP53;STRAND=-;CDS=c.626_627delGA;AA=p.R209fs*6;CNT=4 +17 7578221 COSM392316 TTC T . . GENE=TP53_ENST00000269305;STRAND=-;CDS=c.626_627delGA;AA=p.R209fs*6;CNT=4 +17 7578221 COSM392317 TTC T . . GENE=TP53_ENST00000413465;STRAND=-;CDS=c.626_627delGA;AA=p.R209fs*6;CNT=4 +17 7578221 COSM392319 TTC T . . GENE=TP53_ENST00000414315;STRAND=-;CDS=c.230_231delGA;AA=p.R77fs*6;CNT=4 +17 7578221 COSM392318 TTC T . . GENE=TP53_ENST00000545858;STRAND=-;CDS=c.347_348delGA;AA=p.R116fs*6;CNT=4 +17 7578222 COSM6482 TCT T . . GENE=TP53;STRAND=-;CDS=c.625_626delAG;AA=p.R209fs*6;CNT=1 +17 7578222 COSM242002 TCT T . . GENE=TP53_ENST00000269305;STRAND=-;CDS=c.625_626delAG;AA=p.R209fs*6;CNT=1 +17 7578222 COSM242001 TCT T . . GENE=TP53_ENST00000413465;STRAND=-;CDS=c.625_626delAG;AA=p.R209fs*6;CNT=1 +17 7578222 COSM242003 TCT T . . GENE=TP53_ENST00000414315;STRAND=-;CDS=c.229_230delAG;AA=p.R77fs*6;CNT=1 +17 7578222 COSM242004 TCT T . . GENE=TP53_ENST00000545858;STRAND=-;CDS=c.346_347delAG;AA=p.R116fs*6;CNT=1 +17 7578224 COSM11290 T A . . GENE=TP53;STRAND=-;CDS=c.625A>T;AA=p.R209*;CNT=2 +17 7578224 COSM323942 T A . . GENE=TP53_ENST00000413465;STRAND=-;CDS=c.625A>T;AA=p.R209*;CNT=2 +17 7578224 COSM323943 T A . . GENE=TP53_ENST00000269305;STRAND=-;CDS=c.625A>T;AA=p.R209*;CNT=2 +17 7578224 COSM323945 T A . . GENE=TP53_ENST00000545858;STRAND=-;CDS=c.346A>T;AA=p.R116*;CNT=2 +17 7578224 COSM323944 T A . . GENE=TP53_ENST00000414315;STRAND=-;CDS=c.229A>T;AA=p.R77*;CNT=2 +17 7578226 COSM44249 T A . . GENE=TP53;STRAND=-;CDS=c.623A>T;AA=p.D208V;CNT=1 +17 7578230 COSM179817 C T . . GENE=TP53;STRAND=-;CDS=c.619G>A;AA=p.D207N;CNT=1 +17 7578230 COSM179821 C T . . GENE=TP53_ENST00000545858;STRAND=-;CDS=c.340G>A;AA=p.D114N;CNT=1 +17 7578230 COSM179820 C T . . GENE=TP53_ENST00000414315;STRAND=-;CDS=c.223G>A;AA=p.D75N;CNT=1 +17 7578230 COSM179819 C T . . GENE=TP53_ENST00000269305;STRAND=-;CDS=c.619G>A;AA=p.D207N;CNT=1 +17 7578230 COSM179818 C T . . GENE=TP53_ENST00000413465;STRAND=-;CDS=c.619G>A;AA=p.D207N;CNT=1 +17 7578235 COSM99630 T C . . GENE=TP53_ENST00000413465;STRAND=-;CDS=c.614A>G;AA=p.Y205C;CNT=6 +17 7578235 COSM99632 T C . . GENE=TP53_ENST00000545858;STRAND=-;CDS=c.335A>G;AA=p.Y112C;CNT=6 +17 7578235 COSM215720 T G . . GENE=TP53_ENST00000269305;STRAND=-;CDS=c.614A>C;AA=p.Y205S;CNT=1 +17 7578235 COSM215721 T G . . GENE=TP53_ENST00000414315;STRAND=-;CDS=c.218A>C;AA=p.Y73S;CNT=1 +17 7578235 COSM44169 T G . . GENE=TP53;STRAND=-;CDS=c.614A>C;AA=p.Y205S;CNT=1 +17 7578235 COSM99633 T C . . GENE=TP53_ENST00000269305;STRAND=-;CDS=c.614A>G;AA=p.Y205C;CNT=6 +17 7578235 COSM215722 T G . . GENE=TP53_ENST00000545858;STRAND=-;CDS=c.335A>C;AA=p.Y112S;CNT=1 +17 7578235 COSM215719 T G . . GENE=TP53_ENST00000413465;STRAND=-;CDS=c.614A>C;AA=p.Y205S;CNT=1 +17 7578235 COSM43947 T C . . GENE=TP53;STRAND=-;CDS=c.614A>G;AA=p.Y205C;CNT=8 +17 7578235 COSM99631 T C . . GENE=TP53_ENST00000414315;STRAND=-;CDS=c.218A>G;AA=p.Y73C;CNT=6 +17 7578236 COSM220763 A T . . GENE=TP53_ENST00000414315;STRAND=-;CDS=c.217T>A;AA=p.Y73N;CNT=2 +17 7578236 COSM1159832 A G . . GENE=TP53_ENST00000545858;STRAND=-;CDS=c.334T>C;AA=p.Y112H;CNT=1 +17 7578236 COSM220764 A T . . GENE=TP53_ENST00000545858;STRAND=-;CDS=c.334T>A;AA=p.Y112N;CNT=2 +17 7578236 COSM1159830 A G . . GENE=TP53_ENST00000269305;STRAND=-;CDS=c.613T>C;AA=p.Y205H;CNT=1 +17 7578236 COSM220761 A T . . GENE=TP53_ENST00000413465;STRAND=-;CDS=c.613T>A;AA=p.Y205N;CNT=2 +17 7578236 COSM1159833 A G . . GENE=TP53_ENST00000414315;STRAND=-;CDS=c.217T>C;AA=p.Y73H;CNT=1 +17 7578236 COSM220762 A T . . GENE=TP53_ENST00000269305;STRAND=-;CDS=c.613T>A;AA=p.Y205N;CNT=2 +17 7578236 COSM1159831 A G . . GENE=TP53_ENST00000413465;STRAND=-;CDS=c.613T>C;AA=p.Y205H;CNT=1 +17 7578236 COSM45685 A T . . GENE=TP53;STRAND=-;CDS=c.613T>A;AA=p.Y205N;CNT=2 +17 7578236 COSM43642 A G . . GENE=TP53;STRAND=-;CDS=c.613T>C;AA=p.Y205H;CNT=1 +17 7578237 COSM984941 C G . . GENE=TP53_ENST00000545858;STRAND=-;CDS=c.333G>C;AA=p.E111D;CNT=1 +17 7578237 COSM984942 C G . . GENE=TP53_ENST00000414315;STRAND=-;CDS=c.216G>C;AA=p.E72D;CNT=1 +17 7578237 COSM984940 C G . . GENE=TP53_ENST00000413465;STRAND=-;CDS=c.612G>C;AA=p.E204D;CNT=1 +17 7578237 COSM46471 C G . . GENE=TP53;STRAND=-;CDS=c.612G>C;AA=p.E204D;CNT=1 +17 7578237 COSM984938 C G . . GENE=TP53_ENST00000269305;STRAND=-;CDS=c.612G>C;AA=p.E204D;CNT=1 +17 7578239 COSM10804 C A . . GENE=TP53;STRAND=-;CDS=c.610G>T;AA=p.E204*;CNT=5 +17 7578239 COSM165086 C A . . GENE=TP53_ENST00000413465;STRAND=-;CDS=c.610G>T;AA=p.E204*;CNT=3 +17 7578239 COSM165089 C A . . GENE=TP53_ENST00000545858;STRAND=-;CDS=c.331G>T;AA=p.E111*;CNT=3 +17 7578239 COSM165087 C A . . GENE=TP53_ENST00000269305;STRAND=-;CDS=c.610G>T;AA=p.E204*;CNT=3 +17 7578239 COSM165088 C A . . GENE=TP53_ENST00000414315;STRAND=-;CDS=c.214G>T;AA=p.E72*;CNT=3 +17 7578247 COSM85577 AAATTTCCTT A . . GENE=TP53;STRAND=-;CDS=c.593_601delAAGGAAATT;AA=p.E198_L201>V;CNT=1 +17 7578253 COSM44140 C A . . GENE=TP53;STRAND=-;CDS=c.596G>T;AA=p.G199V;CNT=3 +17 7578253 COSM255790 C A . . GENE=TP53_ENST00000545858;STRAND=-;CDS=c.317G>T;AA=p.G106V;CNT=2 +17 7578253 COSM255789 C A . . GENE=TP53_ENST00000414315;STRAND=-;CDS=c.200G>T;AA=p.G67V;CNT=2 +17 7578253 COSM255787 C A . . GENE=TP53_ENST00000413465;STRAND=-;CDS=c.596G>T;AA=p.G199V;CNT=2 +17 7578253 COSM255788 C A . . GENE=TP53_ENST00000269305;STRAND=-;CDS=c.596G>T;AA=p.G199V;CNT=2 +17 7578254 COSM44537 C A . . GENE=TP53;STRAND=-;CDS=c.595G>T;AA=p.G199*;CNT=1 +17 7578254 COSM378224 C A . . GENE=TP53_ENST00000269305;STRAND=-;CDS=c.595G>T;AA=p.G199*;CNT=1 +17 7578254 COSM378227 C A . . GENE=TP53_ENST00000414315;STRAND=-;CDS=c.199G>T;AA=p.G67*;CNT=1 +17 7578254 COSM378225 C A . . GENE=TP53_ENST00000413465;STRAND=-;CDS=c.595G>T;AA=p.G199*;CNT=1 +17 7578254 COSM378226 C A . . GENE=TP53_ENST00000545858;STRAND=-;CDS=c.316G>T;AA=p.G106*;CNT=1 +17 7578256 COSM44702 TC T . . GENE=TP53;STRAND=-;CDS=c.592delG;AA=p.E198fs*49;CNT=1 +17 7578256 COSM166240 TCCACTCGGATAAGATGCTGAG T . . GENE=TP53;STRAND=-;CDS=c.572_592del21;AA=p.P191_E198>Q;CNT=1 +17 7578256 COSM391541 TC T . . GENE=TP53_ENST00000269305;STRAND=-;CDS=c.592delG;AA=p.E198fs*49;CNT=1 +17 7578256 COSM166242 TCCACTCGGATAAGATGCTGAG T . . GENE=TP53_ENST00000269305;STRAND=-;CDS=c.572_592del21;AA=p.P191_E198>Q;CNT=1 +17 7578256 COSM391542 TC T . . GENE=TP53_ENST00000413465;STRAND=-;CDS=c.592delG;AA=p.E198fs*49;CNT=1 +17 7578256 COSM166241 TCCACTCGGATAAGATGCTGAG T . . GENE=TP53_ENST00000413465;STRAND=-;CDS=c.572_592del21;AA=p.P191_E198>Q;CNT=1 +17 7578256 COSM391544 TC T . . GENE=TP53_ENST00000414315;STRAND=-;CDS=c.196delG;AA=p.E66fs*>25;CNT=1 +17 7578256 COSM166243 TCCACTCGGATAAGATGCTGAG T . . GENE=TP53_ENST00000414315;STRAND=-;CDS=c.176_196del21;AA=p.P59_E66>Q;CNT=1 +17 7578256 COSM391543 TC T . . GENE=TP53_ENST00000545858;STRAND=-;CDS=c.313delG;AA=p.E105fs*49;CNT=1 +17 7578256 COSM166244 TCCACTCGGATAAGATGCTGAG T . . GENE=TP53_ENST00000545858;STRAND=-;CDS=c.293_313del21;AA=p.P98_E105>Q;CNT=1 +17 7578257 COSM118012 C A . . GENE=TP53_ENST00000545858;STRAND=-;CDS=c.313G>T;AA=p.E105*;CNT=2 +17 7578257 COSM118010 C A . . GENE=TP53_ENST00000413465;STRAND=-;CDS=c.592G>T;AA=p.E198*;CNT=2 +17 7578257 COSM118013 C A . . GENE=TP53_ENST00000269305;STRAND=-;CDS=c.592G>T;AA=p.E198*;CNT=2 +17 7578257 COSM118011 C A . . GENE=TP53_ENST00000414315;STRAND=-;CDS=c.196G>T;AA=p.E66*;CNT=2 +17 7578257 COSM44241 C A . . GENE=TP53;STRAND=-;CDS=c.592G>T;AA=p.E198*;CNT=3 +17 7578260 COSM307273 C A . . GENE=TP53_ENST00000414315;STRAND=-;CDS=c.193G>T;AA=p.V65L;CNT=1 +17 7578260 COSM307274 C A . . GENE=TP53_ENST00000545858;STRAND=-;CDS=c.310G>T;AA=p.V104L;CNT=1 +17 7578260 COSM307272 C A . . GENE=TP53_ENST00000269305;STRAND=-;CDS=c.589G>T;AA=p.V197L;CNT=1 +17 7578260 COSM46212 C A . . GENE=TP53;STRAND=-;CDS=c.589G>T;AA=p.V197L;CNT=1 +17 7578260 COSM307271 C A . . GENE=TP53_ENST00000413465;STRAND=-;CDS=c.589G>T;AA=p.V197L;CNT=1 +17 7578261 COSM1180844 TCG T . . GENE=TP53;STRAND=-;CDS=c.586_587delCG;AA=p.R196fs*12;CNT=2 +17 7578261 COSM1180845 TCG T . . GENE=TP53_ENST00000269305;STRAND=-;CDS=c.586_587delCG;AA=p.R196fs*12;CNT=2 +17 7578261 COSM1180846 TCG T . . GENE=TP53_ENST00000413465;STRAND=-;CDS=c.586_587delCG;AA=p.R196fs*12;CNT=2 +17 7578261 COSM1180848 TCG T . . GENE=TP53_ENST00000414315;STRAND=-;CDS=c.190_191delCG;AA=p.R64fs*12;CNT=2 +17 7578261 COSM1180847 TCG T . . GENE=TP53_ENST00000545858;STRAND=-;CDS=c.307_308delCG;AA=p.R103fs*12;CNT=2 +17 7578262 COSM218534 C G . . GENE=TP53_ENST00000414315;STRAND=-;CDS=c.191G>C;AA=p.R64P;CNT=3 +17 7578262 COSM218535 C G . . GENE=TP53_ENST00000545858;STRAND=-;CDS=c.308G>C;AA=p.R103P;CNT=3 +17 7578262 COSM218532 C G . . GENE=TP53_ENST00000413465;STRAND=-;CDS=c.587G>C;AA=p.R196P;CNT=2 +17 7578262 COSM218533 C G . . GENE=TP53_ENST00000269305;STRAND=-;CDS=c.587G>C;AA=p.R196P;CNT=2 +17 7578262 COSM43814 C G . . GENE=TP53;STRAND=-;CDS=c.587G>C;AA=p.R196P;CNT=2 +17 7578262 COSM44757 CG C . . GENE=TP53;STRAND=-;CDS=c.586delC;AA=p.R196fs*51;CNT=2 +17 7578262 COSM166215 CG C . . GENE=TP53_ENST00000269305;STRAND=-;CDS=c.586delC;AA=p.R196fs*51;CNT=2 +17 7578262 COSM166214 CG C . . GENE=TP53_ENST00000413465;STRAND=-;CDS=c.586delC;AA=p.R196fs*51;CNT=2 +17 7578262 COSM166216 CG C . . GENE=TP53_ENST00000414315;STRAND=-;CDS=c.190delC;AA=p.R64fs*>27;CNT=2 +17 7578262 COSM166217 CG C . . GENE=TP53_ENST00000545858;STRAND=-;CDS=c.307delC;AA=p.R103fs*51;CNT=2 +17 7578263 COSM99667 G A . . GENE=TP53_ENST00000545858;STRAND=-;CDS=c.307C>T;AA=p.R103*;CNT=13 +17 7578263 COSM99668 G A . . GENE=TP53_ENST00000269305;STRAND=-;CDS=c.586C>T;AA=p.R196*;CNT=13 +17 7578263 COSM99665 G A . . GENE=TP53_ENST00000413465;STRAND=-;CDS=c.586C>T;AA=p.R196*;CNT=13 +17 7578263 COSM99666 G A . . GENE=TP53_ENST00000414315;STRAND=-;CDS=c.190C>T;AA=p.R64*;CNT=13 +17 7578263 COSM10705 G A . . GENE=TP53;STRAND=-;CDS=c.586C>T;AA=p.R196*;CNT=16 +17 7578264 COSM562637 G C . . GENE=TP53;STRAND=-;CDS=c.585C>G;AA=p.I195M;CNT=1 +17 7578264 COSM562639 G C . . GENE=TP53_ENST00000413465;STRAND=-;CDS=c.585C>G;AA=p.I195M;CNT=1 +17 7578264 COSM562641 G C . . GENE=TP53_ENST00000414315;STRAND=-;CDS=c.189C>G;AA=p.I63M;CNT=1 +17 7578264 COSM562638 G C . . GENE=TP53_ENST00000269305;STRAND=-;CDS=c.585C>G;AA=p.I195M;CNT=1 +17 7578264 COSM562640 G C . . GENE=TP53_ENST00000545858;STRAND=-;CDS=c.306C>G;AA=p.I102M;CNT=1 +17 7578265 COSM11089 A G . . GENE=TP53;STRAND=-;CDS=c.584T>C;AA=p.I195T;CNT=9 +17 7578265 COSM116922 A G . . GENE=TP53_ENST00000414315;STRAND=-;CDS=c.188T>C;AA=p.I63T;CNT=2 +17 7578265 COSM116924 A G . . GENE=TP53_ENST00000269305;STRAND=-;CDS=c.584T>C;AA=p.I195T;CNT=2 +17 7578265 COSM44877 A T . . GENE=TP53;STRAND=-;CDS=c.584T>A;AA=p.I195N;CNT=1 +17 7578265 COSM116921 A G . . GENE=TP53_ENST00000413465;STRAND=-;CDS=c.584T>C;AA=p.I195T;CNT=2 +17 7578265 COSM212745 A C . . GENE=TP53_ENST00000269305;STRAND=-;CDS=c.584T>G;AA=p.I195S;CNT=2 +17 7578265 COSM212746 A C . . GENE=TP53_ENST00000414315;STRAND=-;CDS=c.188T>G;AA=p.I63S;CNT=2 +17 7578265 COSM212747 A C . . GENE=TP53_ENST00000545858;STRAND=-;CDS=c.305T>G;AA=p.I102S;CNT=2 +17 7578265 COSM44539 A C . . GENE=TP53;STRAND=-;CDS=c.584T>G;AA=p.I195S;CNT=2 +17 7578265 COSM212744 A C . . GENE=TP53_ENST00000413465;STRAND=-;CDS=c.584T>G;AA=p.I195S;CNT=2 +17 7578265 COSM116923 A G . . GENE=TP53_ENST00000545858;STRAND=-;CDS=c.305T>C;AA=p.I102T;CNT=2 +17 7578265 COSM295520 A AT . . GENE=TP53_ENST00000414315;STRAND=-;CDS=c.187_188insA;AA=p.I63fs*14;CNT=1 +17 7578265 COSM295521 A AT . . GENE=TP53_ENST00000545858;STRAND=-;CDS=c.304_305insA;AA=p.I102fs*14;CNT=1 +17 7578265 COSM295519 A AT . . GENE=TP53_ENST00000269305;STRAND=-;CDS=c.583_584insA;AA=p.I195fs*14;CNT=1 +17 7578265 COSM295518 A AT . . GENE=TP53_ENST00000413465;STRAND=-;CDS=c.583_584insA;AA=p.I195fs*14;CNT=1 +17 7578265 COSM295517 A AT . . GENE=TP53;STRAND=-;CDS=c.583_584insA;AA=p.I195fs*14;CNT=1 +17 7578265 COSM69179 ATAAGATGCTGAGGAGGGGCCAGACC A . . GENE=TP53;STRAND=-;CDS=c.560-1_583del25;AA=p.?;CNT=1 +17 7578266 COSM129840 T A . . GENE=TP53_ENST00000269305;STRAND=-;CDS=c.583A>T;AA=p.I195F;CNT=1 +17 7578266 COSM44633 T A . . GENE=TP53;STRAND=-;CDS=c.583A>T;AA=p.I195F;CNT=2 +17 7578266 COSM129841 T A . . GENE=TP53_ENST00000413465;STRAND=-;CDS=c.583A>T;AA=p.I195F;CNT=1 +17 7578266 COSM129843 T A . . GENE=TP53_ENST00000414315;STRAND=-;CDS=c.187A>T;AA=p.I63F;CNT=1 +17 7578266 COSM129842 T A . . GENE=TP53_ENST00000545858;STRAND=-;CDS=c.304A>T;AA=p.I102F;CNT=1 +17 7578268 COSM117650 A C . . GENE=TP53_ENST00000269305;STRAND=-;CDS=c.581T>G;AA=p.L194R;CNT=4 +17 7578268 COSM43623 A T . . GENE=TP53;STRAND=-;CDS=c.581T>A;AA=p.L194H;CNT=1 +17 7578268 COSM169018 A T . . GENE=TP53_ENST00000413465;STRAND=-;CDS=c.581T>A;AA=p.L194H;CNT=1 +17 7578268 COSM169019 A T . . GENE=TP53_ENST00000269305;STRAND=-;CDS=c.581T>A;AA=p.L194H;CNT=1 +17 7578268 COSM169021 A T . . GENE=TP53_ENST00000545858;STRAND=-;CDS=c.302T>A;AA=p.L101H;CNT=1 +17 7578268 COSM169020 A T . . GENE=TP53_ENST00000414315;STRAND=-;CDS=c.185T>A;AA=p.L62H;CNT=1 +17 7578268 COSM117648 A C . . GENE=TP53_ENST00000414315;STRAND=-;CDS=c.185T>G;AA=p.L62R;CNT=4 +17 7578268 COSM44571 A C . . GENE=TP53;STRAND=-;CDS=c.581T>G;AA=p.L194R;CNT=5 +17 7578268 COSM117649 A C . . GENE=TP53_ENST00000545858;STRAND=-;CDS=c.302T>G;AA=p.L101R;CNT=4 +17 7578268 COSM117647 A C . . GENE=TP53_ENST00000413465;STRAND=-;CDS=c.581T>G;AA=p.L194R;CNT=4 +17 7578269 COSM376383 G A . . GENE=TP53_ENST00000545858;STRAND=-;CDS=c.301C>T;AA=p.L101F;CNT=1 +17 7578269 COSM376381 G A . . GENE=TP53_ENST00000269305;STRAND=-;CDS=c.580C>T;AA=p.L194F;CNT=1 +17 7578269 COSM376384 G A . . GENE=TP53_ENST00000414315;STRAND=-;CDS=c.184C>T;AA=p.L62F;CNT=1 +17 7578269 COSM10995 G A . . GENE=TP53;STRAND=-;CDS=c.580C>T;AA=p.L194F;CNT=1 +17 7578269 COSM376382 G A . . GENE=TP53_ENST00000413465;STRAND=-;CDS=c.580C>T;AA=p.L194F;CNT=1 +17 7578271 COSM308308 T C . . GENE=TP53_ENST00000414315;STRAND=-;CDS=c.182A>G;AA=p.H61R;CNT=2 +17 7578271 COSM99919 T A . . GENE=TP53_ENST00000269305;STRAND=-;CDS=c.578A>T;AA=p.H193L;CNT=5 +17 7578271 COSM131460 T G . . GENE=TP53_ENST00000545858;STRAND=-;CDS=c.299A>C;AA=p.H100P;CNT=1 +17 7578271 COSM43833 T G . . GENE=TP53;STRAND=-;CDS=c.578A>C;AA=p.H193P;CNT=1 +17 7578271 COSM99918 T A . . GENE=TP53_ENST00000545858;STRAND=-;CDS=c.299A>T;AA=p.H100L;CNT=5 +17 7578271 COSM99916 T A . . GENE=TP53_ENST00000413465;STRAND=-;CDS=c.578A>T;AA=p.H193L;CNT=5 +17 7578271 COSM131461 T G . . GENE=TP53_ENST00000414315;STRAND=-;CDS=c.182A>C;AA=p.H61P;CNT=1 +17 7578271 COSM131459 T G . . GENE=TP53_ENST00000413465;STRAND=-;CDS=c.578A>C;AA=p.H193P;CNT=1 +17 7578271 COSM308309 T C . . GENE=TP53_ENST00000545858;STRAND=-;CDS=c.299A>G;AA=p.H100R;CNT=2 +17 7578271 COSM10742 T C . . GENE=TP53;STRAND=-;CDS=c.578A>G;AA=p.H193R;CNT=6 +17 7578271 COSM308307 T C . . GENE=TP53_ENST00000269305;STRAND=-;CDS=c.578A>G;AA=p.H193R;CNT=2 +17 7578271 COSM11066 T A . . GENE=TP53;STRAND=-;CDS=c.578A>T;AA=p.H193L;CNT=5 +17 7578271 COSM99917 T A . . GENE=TP53_ENST00000414315;STRAND=-;CDS=c.182A>T;AA=p.H61L;CNT=5 +17 7578271 COSM131458 T G . . GENE=TP53_ENST00000269305;STRAND=-;CDS=c.578A>C;AA=p.H193P;CNT=1 +17 7578271 COSM308306 T C . . GENE=TP53_ENST00000413465;STRAND=-;CDS=c.578A>G;AA=p.H193R;CNT=2 +17 7578272 COSM251419 G C . . GENE=TP53_ENST00000545858;STRAND=-;CDS=c.298C>G;AA=p.H100D;CNT=1 +17 7578272 COSM44002 G C . . GENE=TP53;STRAND=-;CDS=c.577C>G;AA=p.H193D;CNT=1 +17 7578272 COSM437531 G A . . GENE=TP53_ENST00000545858;STRAND=-;CDS=c.298C>T;AA=p.H100Y;CNT=6 +17 7578272 COSM437532 G A . . GENE=TP53_ENST00000414315;STRAND=-;CDS=c.181C>T;AA=p.H61Y;CNT=6 +17 7578272 COSM10672 G A . . GENE=TP53;STRAND=-;CDS=c.577C>T;AA=p.H193Y;CNT=7 +17 7578272 COSM251416 G C . . GENE=TP53_ENST00000413465;STRAND=-;CDS=c.577C>G;AA=p.H193D;CNT=1 +17 7578272 COSM251417 G C . . GENE=TP53_ENST00000269305;STRAND=-;CDS=c.577C>G;AA=p.H193D;CNT=1 +17 7578272 COSM251418 G C . . GENE=TP53_ENST00000414315;STRAND=-;CDS=c.181C>G;AA=p.H61D;CNT=1 +17 7578272 COSM437529 G A . . GENE=TP53_ENST00000269305;STRAND=-;CDS=c.577C>T;AA=p.H193Y;CNT=6 +17 7578272 COSM437530 G A . . GENE=TP53_ENST00000413465;STRAND=-;CDS=c.577C>T;AA=p.H193Y;CNT=6 +17 7578274 COSM45140 TGAG T . . GENE=TP53;STRAND=-;CDS=c.572_574delCTC;AA=p.P191delP;CNT=3 +17 7578274 COSM111724 TGAG T . . GENE=TP53_ENST00000269305;STRAND=-;CDS=c.572_574delCTC;AA=p.P191delP;CNT=2 +17 7578274 COSM111721 TGAG T . . GENE=TP53_ENST00000413465;STRAND=-;CDS=c.572_574delCTC;AA=p.P191delP;CNT=2 +17 7578274 COSM111722 TGAG T . . GENE=TP53_ENST00000414315;STRAND=-;CDS=c.176_178delCTC;AA=p.P59delP;CNT=2 +17 7578274 COSM111723 TGAG T . . GENE=TP53_ENST00000545858;STRAND=-;CDS=c.293_295delCTC;AA=p.P98delP;CNT=2 +17 7578275 COSM117948 G A . . GENE=TP53_ENST00000545858;STRAND=-;CDS=c.295C>T;AA=p.Q99*;CNT=7 +17 7578275 COSM117949 G A . . GENE=TP53_ENST00000269305;STRAND=-;CDS=c.574C>T;AA=p.Q192*;CNT=7 +17 7578275 COSM117946 G A . . GENE=TP53_ENST00000413465;STRAND=-;CDS=c.574C>T;AA=p.Q192*;CNT=7 +17 7578275 COSM117947 G A . . GENE=TP53_ENST00000414315;STRAND=-;CDS=c.178C>T;AA=p.Q60*;CNT=7 +17 7578275 COSM10733 G A . . GENE=TP53;STRAND=-;CDS=c.574C>T;AA=p.Q192*;CNT=8 +17 7578280 COSM1189389 G C . . GENE=TP53_ENST00000545858;STRAND=-;CDS=c.290C>G;AA=p.P97R;CNT=1 +17 7578280 COSM44004 G C . . GENE=TP53;STRAND=-;CDS=c.569C>G;AA=p.P190R;CNT=1 +17 7578280 COSM1189387 G C . . GENE=TP53_ENST00000269305;STRAND=-;CDS=c.569C>G;AA=p.P190R;CNT=1 +17 7578280 COSM1189390 G C . . GENE=TP53_ENST00000414315;STRAND=-;CDS=c.173C>G;AA=p.P58R;CNT=1 +17 7578280 COSM1189388 G C . . GENE=TP53_ENST00000413465;STRAND=-;CDS=c.569C>G;AA=p.P190R;CNT=1 +17 7578287 COSM391613 GAC G . . GENE=TP53;STRAND=-;CDS=c.560_561delGT;AA=p.G187fs*21;CNT=1 +17 7578287 COSM391614 GAC G . . GENE=TP53_ENST00000269305;STRAND=-;CDS=c.560_561delGT;AA=p.G187fs*21;CNT=1 +17 7578287 COSM391615 GAC G . . GENE=TP53_ENST00000413465;STRAND=-;CDS=c.560_561delGT;AA=p.G187fs*21;CNT=1 +17 7578287 COSM391617 GAC G . . GENE=TP53_ENST00000414315;STRAND=-;CDS=c.164_165delGT;AA=p.G55fs*21;CNT=1 +17 7578287 COSM391616 GAC G . . GENE=TP53_ENST00000545858;STRAND=-;CDS=c.281_282delGT;AA=p.G94fs*21;CNT=1 +17 7578290 COSM341765 C G . . GENE=TP53_ENST00000545858;STRAND=-;CDS=c.281-1G>C;AA=p.?;CNT=1 +17 7578290 COSM127201 C T . . GENE=TP53_ENST00000413465;STRAND=-;CDS=c.560-1G>A;AA=p.?;CNT=3 +17 7578290 COSM127200 C T . . GENE=TP53_ENST00000269305;STRAND=-;CDS=c.560-1G>A;AA=p.?;CNT=3 +17 7578290 COSM341766 C G . . GENE=TP53_ENST00000414315;STRAND=-;CDS=c.164-1G>C;AA=p.?;CNT=1 +17 7578290 COSM335066 C A . . GENE=TP53_ENST00000414315;STRAND=-;CDS=c.164-1G>T;AA=p.?;CNT=2 +17 7578290 COSM43872 C G . . GENE=TP53;STRAND=-;CDS=c.560-1G>C;AA=p.?;CNT=2 +17 7578290 COSM127203 C T . . GENE=TP53_ENST00000414315;STRAND=-;CDS=c.164-1G>A;AA=p.?;CNT=3 +17 7578290 COSM43753 C T . . GENE=TP53;STRAND=-;CDS=c.560-1G>A;AA=p.?;CNT=5 +17 7578290 COSM335065 C A . . GENE=TP53_ENST00000545858;STRAND=-;CDS=c.281-1G>T;AA=p.?;CNT=2 +17 7578290 COSM335063 C A . . GENE=TP53_ENST00000269305;STRAND=-;CDS=c.560-1G>T;AA=p.?;CNT=2 +17 7578290 COSM341764 C G . . GENE=TP53_ENST00000413465;STRAND=-;CDS=c.560-1G>C;AA=p.?;CNT=1 +17 7578290 COSM127202 C T . . GENE=TP53_ENST00000545858;STRAND=-;CDS=c.281-1G>A;AA=p.?;CNT=3 +17 7578290 COSM43841 C A . . GENE=TP53;STRAND=-;CDS=c.560-1G>T;AA=p.?;CNT=2 +17 7578290 COSM335064 C A . . GENE=TP53_ENST00000413465;STRAND=-;CDS=c.560-1G>T;AA=p.?;CNT=2 +17 7578290 COSM341763 C G . . GENE=TP53_ENST00000269305;STRAND=-;CDS=c.560-1G>C;AA=p.?;CNT=1 +17 7578291 COSM323928 T G . . GENE=TP53_ENST00000545858;STRAND=-;CDS=c.281-2A>C;AA=p.?;CNT=1 +17 7578291 COSM323925 T G . . GENE=TP53_ENST00000413465;STRAND=-;CDS=c.560-2A>C;AA=p.?;CNT=1 +17 7578291 COSM45031 T G . . GENE=TP53;STRAND=-;CDS=c.560-2A>C;AA=p.?;CNT=1 +17 7578291 COSM323927 T G . . GENE=TP53_ENST00000414315;STRAND=-;CDS=c.164-2A>C;AA=p.?;CNT=1 +17 7578291 COSM323926 T G . . GENE=TP53_ENST00000269305;STRAND=-;CDS=c.560-2A>C;AA=p.?;CNT=1 +17 7578292 COSM148177 A C . . GENE=TP53_ENST00000269305;STRAND=-;CDS=c.560-3T>G;AA=p.?;CNT=1 +17 7578292 COSM148176 A C . . GENE=TP53_ENST00000413465;STRAND=-;CDS=c.560-3T>G;AA=p.?;CNT=1 +17 7578292 COSM46059 A C . . GENE=TP53;STRAND=-;CDS=c.560-3T>G;AA=p.?;CNT=1 +17 7578292 COSM148179 A C . . GENE=TP53_ENST00000545858;STRAND=-;CDS=c.281-3T>G;AA=p.?;CNT=1 +17 7578292 COSM148178 A C . . GENE=TP53_ENST00000414315;STRAND=-;CDS=c.164-3T>G;AA=p.?;CNT=1 +17 7578369 COSM99923 A C . . GENE=TP53_ENST00000269305;STRAND=-;CDS=c.559+2T>G;AA=p.?;CNT=1 +17 7578369 COSM99920 A C . . GENE=TP53_ENST00000413465;STRAND=-;CDS=c.559+2T>G;AA=p.?;CNT=1 +17 7578369 COSM99922 A C . . GENE=TP53_ENST00000545858;STRAND=-;CDS=c.280+2T>G;AA=p.?;CNT=1 +17 7578369 COSM45711 A C . . GENE=TP53;STRAND=-;CDS=c.559+2T>G;AA=p.?;CNT=2 +17 7578369 COSM99921 A C . . GENE=TP53_ENST00000414315;STRAND=-;CDS=c.163+2T>G;AA=p.?;CNT=1 +17 7578370 COSM6901 C T . . GENE=TP53;STRAND=-;CDS=c.559+1G>A;AA=p.?;CNT=3 +17 7578370 COSM131535 C T . . GENE=TP53_ENST00000413465;STRAND=-;CDS=c.559+1G>A;AA=p.?;CNT=2 +17 7578370 COSM437533 C A . . GENE=TP53_ENST00000269305;STRAND=-;CDS=c.559+1G>T;AA=p.?;CNT=3 +17 7578370 COSM131536 C T . . GENE=TP53_ENST00000545858;STRAND=-;CDS=c.280+1G>A;AA=p.?;CNT=2 +17 7578370 COSM44268 C A . . GENE=TP53;STRAND=-;CDS=c.559+1G>T;AA=p.?;CNT=5 +17 7578370 COSM437535 C A . . GENE=TP53_ENST00000545858;STRAND=-;CDS=c.280+1G>T;AA=p.?;CNT=3 +17 7578370 COSM131537 C T . . GENE=TP53_ENST00000414315;STRAND=-;CDS=c.163+1G>A;AA=p.?;CNT=2 +17 7578370 COSM437536 C A . . GENE=TP53_ENST00000414315;STRAND=-;CDS=c.163+1G>T;AA=p.?;CNT=3 +17 7578370 COSM131534 C T . . GENE=TP53_ENST00000269305;STRAND=-;CDS=c.559+1G>A;AA=p.?;CNT=2 +17 7578370 COSM437534 C A . . GENE=TP53_ENST00000413465;STRAND=-;CDS=c.559+1G>T;AA=p.?;CNT=3 +17 7578374 COSM116607 C T . . GENE=TP53_ENST00000545858;STRAND=-;CDS=c.277G>A;AA=p.D93N;CNT=1 +17 7578374 COSM116605 C T . . GENE=TP53_ENST00000413465;STRAND=-;CDS=c.556G>A;AA=p.D186N;CNT=1 +17 7578374 COSM116606 C T . . GENE=TP53_ENST00000414315;STRAND=-;CDS=c.160G>A;AA=p.D54N;CNT=1 +17 7578374 COSM44700 C T . . GENE=TP53;STRAND=-;CDS=c.556G>A;AA=p.D186N;CNT=1 +17 7578374 COSM116608 C T . . GENE=TP53_ENST00000269305;STRAND=-;CDS=c.556G>A;AA=p.D186N;CNT=1 +17 7578380 COSM165078 C G . . GENE=TP53_ENST00000413465;STRAND=-;CDS=c.550G>C;AA=p.D184H;CNT=1 +17 7578380 COSM165079 C G . . GENE=TP53_ENST00000269305;STRAND=-;CDS=c.550G>C;AA=p.D184H;CNT=1 +17 7578380 COSM165080 C G . . GENE=TP53_ENST00000414315;STRAND=-;CDS=c.154G>C;AA=p.D52H;CNT=1 +17 7578380 COSM165081 C G . . GENE=TP53_ENST00000545858;STRAND=-;CDS=c.271G>C;AA=p.D91H;CNT=1 +17 7578380 COSM43797 C G . . GENE=TP53;STRAND=-;CDS=c.550G>C;AA=p.D184H;CNT=1 +17 7578381 COSM272222 TGAGCAGCGCTCATGGTGG T . . GENE=TP53;STRAND=-;CDS=c.531_548del18;AA=p.H178_S183delHHERCS;CNT=1 +17 7578381 COSM272224 TGAGCAGCGCTCATGGTGG T . . GENE=TP53_ENST00000269305;STRAND=-;CDS=c.531_548del18;AA=p.H178_S183delHHERCS;CNT=1 +17 7578381 COSM272223 TGAGCAGCGCTCATGGTGG T . . GENE=TP53_ENST00000413465;STRAND=-;CDS=c.531_548del18;AA=p.H178_S183delHHERCS;CNT=1 +17 7578381 COSM272225 TGAGCAGCGCTCATGGTGG T . . GENE=TP53_ENST00000414315;STRAND=-;CDS=c.135_152del18;AA=p.H46_S51delHHERCS;CNT=1 +17 7578381 COSM272226 TGAGCAGCGCTCATGGTGG T . . GENE=TP53_ENST00000545858;STRAND=-;CDS=c.252_269del18;AA=p.H85_S90delHHERCS;CNT=1 +17 7578382 COSM562634 G C . . GENE=TP53_ENST00000413465;STRAND=-;CDS=c.548C>G;AA=p.S183*;CNT=2 +17 7578382 COSM562633 G C . . GENE=TP53_ENST00000269305;STRAND=-;CDS=c.548C>G;AA=p.S183*;CNT=2 +17 7578382 COSM562635 G C . . GENE=TP53_ENST00000545858;STRAND=-;CDS=c.269C>G;AA=p.S90*;CNT=2 +17 7578382 COSM10706 G C . . GENE=TP53;STRAND=-;CDS=c.548C>G;AA=p.S183*;CNT=2 +17 7578382 COSM562636 G C . . GENE=TP53_ENST00000414315;STRAND=-;CDS=c.152C>G;AA=p.S51*;CNT=2 +17 7578388 COSM45046 C G . . GENE=TP53;STRAND=-;CDS=c.542G>C;AA=p.R181P;CNT=1 +17 7578389 COSM131462 G A . . GENE=TP53_ENST00000269305;STRAND=-;CDS=c.541C>T;AA=p.R181C;CNT=1 +17 7578389 COSM131463 G A . . GENE=TP53_ENST00000413465;STRAND=-;CDS=c.541C>T;AA=p.R181C;CNT=1 +17 7578389 COSM131465 G A . . GENE=TP53_ENST00000414315;STRAND=-;CDS=c.145C>T;AA=p.R49C;CNT=1 +17 7578389 COSM131464 G A . . GENE=TP53_ENST00000545858;STRAND=-;CDS=c.262C>T;AA=p.R88C;CNT=1 +17 7578389 COSM11090 G A . . GENE=TP53;STRAND=-;CDS=c.541C>T;AA=p.R181C;CNT=1 +17 7578390 COSM323932 C A . . GENE=TP53_ENST00000545858;STRAND=-;CDS=c.261G>T;AA=p.E87D;CNT=1 +17 7578390 COSM323930 C A . . GENE=TP53_ENST00000269305;STRAND=-;CDS=c.540G>T;AA=p.E180D;CNT=1 +17 7578390 COSM323931 C A . . GENE=TP53_ENST00000414315;STRAND=-;CDS=c.144G>T;AA=p.E48D;CNT=1 +17 7578390 COSM323929 C A . . GENE=TP53_ENST00000413465;STRAND=-;CDS=c.540G>T;AA=p.E180D;CNT=1 +17 7578390 COSM45372 C A . . GENE=TP53;STRAND=-;CDS=c.540G>T;AA=p.E180D;CNT=1 +17 7578391 COSM85576 TCATGG T . . GENE=TP53;STRAND=-;CDS=c.534_538delCCATG;AA=p.H178fs*6;CNT=1 +17 7578393 COSM1158095 A C . . GENE=TP53_ENST00000413465;STRAND=-;CDS=c.537T>G;AA=p.H179Q;CNT=1 +17 7578393 COSM307266 A T . . GENE=TP53_ENST00000545858;STRAND=-;CDS=c.258T>A;AA=p.H86Q;CNT=2 +17 7578393 COSM44214 A T . . GENE=TP53;STRAND=-;CDS=c.537T>A;AA=p.H179Q;CNT=2 +17 7578393 COSM307263 A T . . GENE=TP53_ENST00000413465;STRAND=-;CDS=c.537T>A;AA=p.H179Q;CNT=2 +17 7578393 COSM307265 A T . . GENE=TP53_ENST00000414315;STRAND=-;CDS=c.141T>A;AA=p.H47Q;CNT=2 +17 7578393 COSM1158096 A C . . GENE=TP53_ENST00000545858;STRAND=-;CDS=c.258T>G;AA=p.H86Q;CNT=1 +17 7578393 COSM1158094 A C . . GENE=TP53_ENST00000269305;STRAND=-;CDS=c.537T>G;AA=p.H179Q;CNT=1 +17 7578393 COSM307264 A T . . GENE=TP53_ENST00000269305;STRAND=-;CDS=c.537T>A;AA=p.H179Q;CNT=2 +17 7578393 COSM1158097 A C . . GENE=TP53_ENST00000414315;STRAND=-;CDS=c.141T>G;AA=p.H47Q;CNT=1 +17 7578393 COSM11249 A C . . GENE=TP53;STRAND=-;CDS=c.537T>G;AA=p.H179Q;CNT=2 +17 7578394 COSM214225 T C . . GENE=TP53_ENST00000545858;STRAND=-;CDS=c.257A>G;AA=p.H86R;CNT=2 +17 7578394 COSM129847 T A . . GENE=TP53_ENST00000414315;STRAND=-;CDS=c.140A>T;AA=p.H47L;CNT=4 +17 7578394 COSM214224 T C . . GENE=TP53_ENST00000414315;STRAND=-;CDS=c.140A>G;AA=p.H47R;CNT=2 +17 7578394 COSM129845 T A . . GENE=TP53_ENST00000413465;STRAND=-;CDS=c.536A>T;AA=p.H179L;CNT=4 +17 7578394 COSM129846 T A . . GENE=TP53_ENST00000545858;STRAND=-;CDS=c.257A>T;AA=p.H86L;CNT=4 +17 7578394 COSM129844 T A . . GENE=TP53_ENST00000269305;STRAND=-;CDS=c.536A>T;AA=p.H179L;CNT=4 +17 7578394 COSM214222 T C . . GENE=TP53_ENST00000413465;STRAND=-;CDS=c.536A>G;AA=p.H179R;CNT=2 +17 7578394 COSM43635 T A . . GENE=TP53;STRAND=-;CDS=c.536A>T;AA=p.H179L;CNT=4 +17 7578394 COSM214223 T C . . GENE=TP53_ENST00000269305;STRAND=-;CDS=c.536A>G;AA=p.H179R;CNT=2 +17 7578394 COSM10889 T C . . GENE=TP53;STRAND=-;CDS=c.536A>G;AA=p.H179R;CNT=7 +17 7578395 COSM326728 G T . . GENE=TP53_ENST00000269305;STRAND=-;CDS=c.535C>A;AA=p.H179N;CNT=1 +17 7578395 COSM326730 G T . . GENE=TP53_ENST00000545858;STRAND=-;CDS=c.256C>A;AA=p.H86N;CNT=1 +17 7578395 COSM707884 G C . . GENE=TP53_ENST00000269305;STRAND=-;CDS=c.535C>G;AA=p.H179D;CNT=1 +17 7578395 COSM129848 G A . . GENE=TP53_ENST00000269305;STRAND=-;CDS=c.535C>T;AA=p.H179Y;CNT=5 +17 7578395 COSM44151 G T . . GENE=TP53;STRAND=-;CDS=c.535C>A;AA=p.H179N;CNT=1 +17 7578395 COSM129849 G A . . GENE=TP53_ENST00000413465;STRAND=-;CDS=c.535C>T;AA=p.H179Y;CNT=5 +17 7578395 COSM10768 G A . . GENE=TP53;STRAND=-;CDS=c.535C>T;AA=p.H179Y;CNT=5 +17 7578395 COSM129850 G A . . GENE=TP53_ENST00000545858;STRAND=-;CDS=c.256C>T;AA=p.H86Y;CNT=5 +17 7578395 COSM326727 G T . . GENE=TP53_ENST00000413465;STRAND=-;CDS=c.535C>A;AA=p.H179N;CNT=1 +17 7578395 COSM129851 G A . . GENE=TP53_ENST00000414315;STRAND=-;CDS=c.139C>T;AA=p.H47Y;CNT=5 +17 7578395 COSM326729 G T . . GENE=TP53_ENST00000414315;STRAND=-;CDS=c.139C>A;AA=p.H47N;CNT=1 +17 7578395 COSM707885 G C . . GENE=TP53_ENST00000413465;STRAND=-;CDS=c.535C>G;AA=p.H179D;CNT=1 +17 7578395 COSM707886 G C . . GENE=TP53_ENST00000545858;STRAND=-;CDS=c.256C>G;AA=p.H86D;CNT=1 +17 7578395 COSM707887 G C . . GENE=TP53_ENST00000414315;STRAND=-;CDS=c.139C>G;AA=p.H47D;CNT=1 +17 7578395 COSM44776 G C . . GENE=TP53;STRAND=-;CDS=c.535C>G;AA=p.H179D;CNT=1 +17 7578397 COSM44659 TG T . . GENE=TP53;STRAND=-;CDS=c.532delC;AA=p.H178fs*69;CNT=2 +17 7578397 COSM111498 TG T . . GENE=TP53_ENST00000269305;STRAND=-;CDS=c.532delC;AA=p.H178fs*69;CNT=2 +17 7578397 COSM111495 TG T . . GENE=TP53_ENST00000413465;STRAND=-;CDS=c.532delC;AA=p.H178fs*69;CNT=2 +17 7578397 COSM111496 TG T . . GENE=TP53_ENST00000414315;STRAND=-;CDS=c.136delC;AA=p.H46fs*>45;CNT=2 +17 7578397 COSM111497 TG T . . GENE=TP53_ENST00000545858;STRAND=-;CDS=c.253delC;AA=p.H85fs*69;CNT=2 +17 7578398 COSM44901 G C . . GENE=TP53;STRAND=-;CDS=c.532C>G;AA=p.H178D;CNT=1 +17 7578398 COSM984946 G C . . GENE=TP53_ENST00000269305;STRAND=-;CDS=c.532C>G;AA=p.H178D;CNT=1 +17 7578398 COSM984949 G C . . GENE=TP53_ENST00000545858;STRAND=-;CDS=c.253C>G;AA=p.H85D;CNT=1 +17 7578398 COSM984950 G C . . GENE=TP53_ENST00000414315;STRAND=-;CDS=c.136C>G;AA=p.H46D;CNT=1 +17 7578398 COSM984948 G C . . GENE=TP53_ENST00000413465;STRAND=-;CDS=c.532C>G;AA=p.H178D;CNT=1 +17 7578400 COSM117221 G C . . GENE=TP53_ENST00000413465;STRAND=-;CDS=c.530C>G;AA=p.P177R;CNT=1 +17 7578400 COSM117222 G C . . GENE=TP53_ENST00000414315;STRAND=-;CDS=c.134C>G;AA=p.P45R;CNT=1 +17 7578400 COSM10651 G C . . GENE=TP53;STRAND=-;CDS=c.530C>G;AA=p.P177R;CNT=1 +17 7578400 COSM117223 G C . . GENE=TP53_ENST00000545858;STRAND=-;CDS=c.251C>G;AA=p.P84R;CNT=1 +17 7578400 COSM117224 G C . . GENE=TP53_ENST00000269305;STRAND=-;CDS=c.530C>G;AA=p.P177R;CNT=1 +17 7578402 COSM179824 G T . . GENE=TP53_ENST00000414315;STRAND=-;CDS=c.132C>A;AA=p.C44*;CNT=2 +17 7578402 COSM43734 G T . . GENE=TP53;STRAND=-;CDS=c.528C>A;AA=p.C176*;CNT=2 +17 7578402 COSM179823 G T . . GENE=TP53_ENST00000269305;STRAND=-;CDS=c.528C>A;AA=p.C176*;CNT=2 +17 7578402 COSM179822 G T . . GENE=TP53_ENST00000413465;STRAND=-;CDS=c.528C>A;AA=p.C176*;CNT=2 +17 7578402 COSM179825 G T . . GENE=TP53_ENST00000545858;STRAND=-;CDS=c.249C>A;AA=p.C83*;CNT=2 +17 7578403 COSM10645 C A . . GENE=TP53;STRAND=-;CDS=c.527G>T;AA=p.C176F;CNT=13 +17 7578403 COSM99672 C T . . GENE=TP53_ENST00000269305;STRAND=-;CDS=c.527G>A;AA=p.C176Y;CNT=4 +17 7578403 COSM10687 C T . . GENE=TP53;STRAND=-;CDS=c.527G>A;AA=p.C176Y;CNT=9 +17 7578403 COSM117398 C A . . GENE=TP53_ENST00000269305;STRAND=-;CDS=c.527G>T;AA=p.C176F;CNT=13 +17 7578403 COSM99670 C T . . GENE=TP53_ENST00000414315;STRAND=-;CDS=c.131G>A;AA=p.C44Y;CNT=4 +17 7578403 COSM117395 C A . . GENE=TP53_ENST00000413465;STRAND=-;CDS=c.527G>T;AA=p.C176F;CNT=13 +17 7578403 COSM99671 C T . . GENE=TP53_ENST00000545858;STRAND=-;CDS=c.248G>A;AA=p.C83Y;CNT=4 +17 7578403 COSM99669 C T . . GENE=TP53_ENST00000413465;STRAND=-;CDS=c.527G>A;AA=p.C176Y;CNT=4 +17 7578403 COSM117397 C A . . GENE=TP53_ENST00000545858;STRAND=-;CDS=c.248G>T;AA=p.C83F;CNT=13 +17 7578403 COSM117396 C A . . GENE=TP53_ENST00000414315;STRAND=-;CDS=c.131G>T;AA=p.C44F;CNT=13 +17 7578404 COSM220760 A C . . GENE=TP53_ENST00000545858;STRAND=-;CDS=c.247T>G;AA=p.C83G;CNT=1 +17 7578404 COSM44692 A C . . GENE=TP53;STRAND=-;CDS=c.526T>G;AA=p.C176G;CNT=1 +17 7578404 COSM220759 A C . . GENE=TP53_ENST00000414315;STRAND=-;CDS=c.130T>G;AA=p.C44G;CNT=1 +17 7578404 COSM220758 A C . . GENE=TP53_ENST00000269305;STRAND=-;CDS=c.526T>G;AA=p.C176G;CNT=1 +17 7578404 COSM220757 A C . . GENE=TP53_ENST00000413465;STRAND=-;CDS=c.526T>G;AA=p.C176G;CNT=1 +17 7578406 COSM99914 C T . . GENE=TP53_ENST00000269305;STRAND=-;CDS=c.524G>A;AA=p.R175H;CNT=40 +17 7578406 COSM99024 C T . . GENE=TP53_ENST00000545858;STRAND=-;CDS=c.245G>A;AA=p.R82H;CNT=41 +17 7578406 COSM10648 C T . . GENE=TP53;STRAND=-;CDS=c.524G>A;AA=p.R175H;CNT=50 +17 7578406 COSM99023 C T . . GENE=TP53_ENST00000414315;STRAND=-;CDS=c.128G>A;AA=p.R43H;CNT=41 +17 7578406 COSM99022 C T . . GENE=TP53_ENST00000413465;STRAND=-;CDS=c.524G>A;AA=p.R175H;CNT=40 +17 7578407 COSM179829 G A . . GENE=TP53_ENST00000545858;STRAND=-;CDS=c.244C>T;AA=p.R82C;CNT=2 +17 7578407 COSM179827 G A . . GENE=TP53_ENST00000269305;STRAND=-;CDS=c.523C>T;AA=p.R175C;CNT=2 +17 7578407 COSM707882 G C . . GENE=TP53_ENST00000545858;STRAND=-;CDS=c.244C>G;AA=p.R82G;CNT=3 +17 7578407 COSM707880 G C . . GENE=TP53_ENST00000269305;STRAND=-;CDS=c.523C>G;AA=p.R175G;CNT=3 +17 7578407 COSM707883 G C . . GENE=TP53_ENST00000414315;STRAND=-;CDS=c.127C>G;AA=p.R43G;CNT=3 +17 7578407 COSM43680 G A . . GENE=TP53;STRAND=-;CDS=c.523C>T;AA=p.R175C;CNT=2 +17 7578407 COSM10870 G C . . GENE=TP53;STRAND=-;CDS=c.523C>G;AA=p.R175G;CNT=3 +17 7578407 COSM179828 G A . . GENE=TP53_ENST00000414315;STRAND=-;CDS=c.127C>T;AA=p.R43C;CNT=2 +17 7578407 COSM179826 G A . . GENE=TP53_ENST00000413465;STRAND=-;CDS=c.523C>T;AA=p.R175C;CNT=2 +17 7578407 COSM707881 G C . . GENE=TP53_ENST00000413465;STRAND=-;CDS=c.523C>G;AA=p.R175G;CNT=3 +17 7578410 COSM298209 TCA T . . GENE=TP53;STRAND=-;CDS=c.518_519delTG;AA=p.V173fs*7;CNT=1 +17 7578410 COSM298211 TCA T . . GENE=TP53_ENST00000269305;STRAND=-;CDS=c.518_519delTG;AA=p.V173fs*7;CNT=1 +17 7578410 COSM298210 TCA T . . GENE=TP53_ENST00000413465;STRAND=-;CDS=c.518_519delTG;AA=p.V173fs*7;CNT=1 +17 7578410 COSM298212 TCA T . . GENE=TP53_ENST00000414315;STRAND=-;CDS=c.122_123delTG;AA=p.V41fs*7;CNT=1 +17 7578410 COSM298213 TCA T . . GENE=TP53_ENST00000545858;STRAND=-;CDS=c.239_240delTG;AA=p.V80fs*7;CNT=1 +17 7578413 COSM44057 C G . . GENE=TP53;STRAND=-;CDS=c.517G>C;AA=p.V173L;CNT=2 +17 7578413 COSM121043 C G . . GENE=TP53_ENST00000413465;STRAND=-;CDS=c.517G>C;AA=p.V173L;CNT=2 +17 7578413 COSM121044 C G . . GENE=TP53_ENST00000545858;STRAND=-;CDS=c.238G>C;AA=p.V80L;CNT=2 +17 7578413 COSM98966 C T . . GENE=TP53_ENST00000545858;STRAND=-;CDS=c.238G>A;AA=p.V80M;CNT=2 +17 7578413 COSM99639 C A . . GENE=TP53_ENST00000414315;STRAND=-;CDS=c.121G>T;AA=p.V41L;CNT=4 +17 7578413 COSM98964 C T . . GENE=TP53_ENST00000413465;STRAND=-;CDS=c.517G>A;AA=p.V173M;CNT=2 +17 7578413 COSM99641 C A . . GENE=TP53_ENST00000269305;STRAND=-;CDS=c.517G>T;AA=p.V173L;CNT=4 +17 7578413 COSM11084 C T . . GENE=TP53;STRAND=-;CDS=c.517G>A;AA=p.V173M;CNT=3 +17 7578413 COSM43559 C A . . GENE=TP53;STRAND=-;CDS=c.517G>T;AA=p.V173L;CNT=4 +17 7578413 COSM121042 C G . . GENE=TP53_ENST00000269305;STRAND=-;CDS=c.517G>C;AA=p.V173L;CNT=2 +17 7578413 COSM121041 C T . . GENE=TP53_ENST00000269305;STRAND=-;CDS=c.517G>A;AA=p.V173M;CNT=2 +17 7578413 COSM99640 C A . . GENE=TP53_ENST00000545858;STRAND=-;CDS=c.238G>T;AA=p.V80L;CNT=4 +17 7578413 COSM99638 C A . . GENE=TP53_ENST00000413465;STRAND=-;CDS=c.517G>T;AA=p.V173L;CNT=4 +17 7578413 COSM98965 C T . . GENE=TP53_ENST00000414315;STRAND=-;CDS=c.121G>A;AA=p.V41M;CNT=2 +17 7578413 COSM121045 C G . . GENE=TP53_ENST00000414315;STRAND=-;CDS=c.121G>C;AA=p.V41L;CNT=2 +17 7578415 COSM707878 A C . . GENE=TP53_ENST00000545858;STRAND=-;CDS=c.236T>G;AA=p.V79G;CNT=1 +17 7578415 COSM1161214 A T . . GENE=TP53_ENST00000413465;STRAND=-;CDS=c.515T>A;AA=p.V172D;CNT=1 +17 7578415 COSM707877 A C . . GENE=TP53_ENST00000413465;STRAND=-;CDS=c.515T>G;AA=p.V172G;CNT=1 +17 7578415 COSM1161215 A T . . GENE=TP53_ENST00000545858;STRAND=-;CDS=c.236T>A;AA=p.V79D;CNT=1 +17 7578415 COSM1161213 A T . . GENE=TP53_ENST00000269305;STRAND=-;CDS=c.515T>A;AA=p.V172D;CNT=1 +17 7578415 COSM45047 A C . . GENE=TP53;STRAND=-;CDS=c.515T>G;AA=p.V172G;CNT=1 +17 7578415 COSM707876 A C . . GENE=TP53_ENST00000269305;STRAND=-;CDS=c.515T>G;AA=p.V172G;CNT=1 +17 7578415 COSM44229 A T . . GENE=TP53;STRAND=-;CDS=c.515T>A;AA=p.V172D;CNT=1 +17 7578415 COSM707879 A C . . GENE=TP53_ENST00000414315;STRAND=-;CDS=c.119T>G;AA=p.V40G;CNT=1 +17 7578415 COSM1161216 A T . . GENE=TP53_ENST00000414315;STRAND=-;CDS=c.119T>A;AA=p.V40D;CNT=1 +17 7578415 COSM437546 ACCTC A . . GENE=TP53;STRAND=-;CDS=c.511_514delGAGG;AA=p.E171fs*2;CNT=1 +17 7578415 COSM437547 ACCTC A . . GENE=TP53_ENST00000269305;STRAND=-;CDS=c.511_514delGAGG;AA=p.E171fs*2;CNT=1 +17 7578415 COSM437548 ACCTC A . . GENE=TP53_ENST00000413465;STRAND=-;CDS=c.511_514delGAGG;AA=p.E171fs*2;CNT=1 +17 7578415 COSM437550 ACCTC A . . GENE=TP53_ENST00000414315;STRAND=-;CDS=c.115_118delGAGG;AA=p.E39fs*2;CNT=1 +17 7578415 COSM437549 ACCTC A . . GENE=TP53_ENST00000545858;STRAND=-;CDS=c.232_235delGAGG;AA=p.E78fs*2;CNT=1 +17 7578416 COSM354842 C A . . GENE=TP53_ENST00000414315;STRAND=-;CDS=c.118G>T;AA=p.V40F;CNT=2 +17 7578416 COSM44240 C A . . GENE=TP53;STRAND=-;CDS=c.514G>T;AA=p.V172F;CNT=2 +17 7578416 COSM354841 C A . . GENE=TP53_ENST00000545858;STRAND=-;CDS=c.235G>T;AA=p.V79F;CNT=2 +17 7578416 COSM354839 C A . . GENE=TP53_ENST00000269305;STRAND=-;CDS=c.514G>T;AA=p.V172F;CNT=2 +17 7578416 COSM354840 C A . . GENE=TP53_ENST00000413465;STRAND=-;CDS=c.514G>T;AA=p.V172F;CNT=2 +17 7578419 COSM417965 C T . . GENE=TP53_ENST00000413465;STRAND=-;CDS=c.511G>A;AA=p.E171K;CNT=1 +17 7578419 COSM44312 C T . . GENE=TP53;STRAND=-;CDS=c.511G>A;AA=p.E171K;CNT=1 +17 7578419 COSM10996 C A . . GENE=TP53;STRAND=-;CDS=c.511G>T;AA=p.E171*;CNT=1 +17 7578419 COSM357725 C A . . GENE=TP53_ENST00000545858;STRAND=-;CDS=c.232G>T;AA=p.E78*;CNT=1 +17 7578419 COSM417966 C T . . GENE=TP53_ENST00000545858;STRAND=-;CDS=c.232G>A;AA=p.E78K;CNT=1 +17 7578419 COSM357726 C A . . GENE=TP53_ENST00000414315;STRAND=-;CDS=c.115G>T;AA=p.E39*;CNT=1 +17 7578419 COSM417964 C T . . GENE=TP53_ENST00000269305;STRAND=-;CDS=c.511G>A;AA=p.E171K;CNT=1 +17 7578419 COSM417967 C T . . GENE=TP53_ENST00000414315;STRAND=-;CDS=c.115G>A;AA=p.E39K;CNT=1 +17 7578419 COSM357724 C A . . GENE=TP53_ENST00000413465;STRAND=-;CDS=c.511G>T;AA=p.E171*;CNT=1 +17 7578419 COSM357723 C A . . GENE=TP53_ENST00000269305;STRAND=-;CDS=c.511G>T;AA=p.E171*;CNT=1 +17 7578423 COSM357728 C T . . GENE=TP53_ENST00000413465;STRAND=-;CDS=c.507G>A;AA=p.M169I;CNT=1 +17 7578423 COSM357727 C T . . GENE=TP53_ENST00000269305;STRAND=-;CDS=c.507G>A;AA=p.M169I;CNT=1 +17 7578423 COSM357730 C T . . GENE=TP53_ENST00000414315;STRAND=-;CDS=c.111G>A;AA=p.M37I;CNT=1 +17 7578423 COSM44126 C T . . GENE=TP53;STRAND=-;CDS=c.507G>A;AA=p.M169I;CNT=1 +17 7578423 COSM357729 C T . . GENE=TP53_ENST00000545858;STRAND=-;CDS=c.228G>A;AA=p.M76I;CNT=1 +17 7578427 COSM562629 T A . . GENE=TP53_ENST00000269305;STRAND=-;CDS=c.503A>T;AA=p.H168L;CNT=1 +17 7578427 COSM562632 T A . . GENE=TP53_ENST00000414315;STRAND=-;CDS=c.107A>T;AA=p.H36L;CNT=1 +17 7578427 COSM44801 T A . . GENE=TP53;STRAND=-;CDS=c.503A>T;AA=p.H168L;CNT=1 +17 7578427 COSM562630 T A . . GENE=TP53_ENST00000413465;STRAND=-;CDS=c.503A>T;AA=p.H168L;CNT=1 +17 7578427 COSM562631 T A . . GENE=TP53_ENST00000545858;STRAND=-;CDS=c.224A>T;AA=p.H75L;CNT=1 +17 7578428 COSM437555 GC G . . GENE=TP53;STRAND=-;CDS=c.501delG;AA=p.Q167fs*3;CNT=1 +17 7578428 COSM437556 GC G . . GENE=TP53_ENST00000269305;STRAND=-;CDS=c.501delG;AA=p.Q167fs*3;CNT=1 +17 7578428 COSM437557 GC G . . GENE=TP53_ENST00000413465;STRAND=-;CDS=c.501delG;AA=p.Q167fs*3;CNT=1 +17 7578428 COSM437559 GC G . . GENE=TP53_ENST00000414315;STRAND=-;CDS=c.105delG;AA=p.Q35fs*3;CNT=1 +17 7578428 COSM437558 GC G . . GENE=TP53_ENST00000545858;STRAND=-;CDS=c.222delG;AA=p.Q74fs*3;CNT=1 +17 7578429 COSM44275 CTG C . . GENE=TP53;STRAND=-;CDS=c.499_500delCA;AA=p.Q167fs*13;CNT=1 +17 7578429 COSM405173 CTG C . . GENE=TP53_ENST00000269305;STRAND=-;CDS=c.499_500delCA;AA=p.Q167fs*13;CNT=1 +17 7578429 COSM405174 CTG C . . GENE=TP53_ENST00000413465;STRAND=-;CDS=c.499_500delCA;AA=p.Q167fs*13;CNT=1 +17 7578429 COSM405176 CTG C . . GENE=TP53_ENST00000414315;STRAND=-;CDS=c.103_104delCA;AA=p.Q35fs*13;CNT=1 +17 7578429 COSM405175 CTG C . . GENE=TP53_ENST00000545858;STRAND=-;CDS=c.220_221delCA;AA=p.Q74fs*13;CNT=1 +17 7578431 COSM121082 G A . . GENE=TP53_ENST00000413465;STRAND=-;CDS=c.499C>T;AA=p.Q167*;CNT=1 +17 7578431 COSM121081 G A . . GENE=TP53_ENST00000269305;STRAND=-;CDS=c.499C>T;AA=p.Q167*;CNT=1 +17 7578431 COSM11333 G A . . GENE=TP53;STRAND=-;CDS=c.499C>T;AA=p.Q167*;CNT=1 +17 7578431 COSM121083 G A . . GENE=TP53_ENST00000545858;STRAND=-;CDS=c.220C>T;AA=p.Q74*;CNT=1 +17 7578431 COSM121084 G A . . GENE=TP53_ENST00000414315;STRAND=-;CDS=c.103C>T;AA=p.Q35*;CNT=1 +17 7578431 COSM69214 G GT . . GENE=TP53;STRAND=-;CDS=c.498_499insA;AA=p.Q167fs*14;CNT=1 +17 7578432 COSM51646 T TG . . GENE=TP53;STRAND=-;CDS=c.497_498insC;AA=p.Q167fs*14;CNT=3 +17 7578433 COSM369075 G C . . GENE=TP53_ENST00000413465;STRAND=-;CDS=c.497C>G;AA=p.S166*;CNT=3 +17 7578433 COSM44467 G C . . GENE=TP53;STRAND=-;CDS=c.497C>G;AA=p.S166*;CNT=3 +17 7578433 COSM369076 G C . . GENE=TP53_ENST00000545858;STRAND=-;CDS=c.218C>G;AA=p.S73*;CNT=3 +17 7578433 COSM369074 G C . . GENE=TP53_ENST00000269305;STRAND=-;CDS=c.497C>G;AA=p.S166*;CNT=3 +17 7578433 COSM369077 G C . . GENE=TP53_ENST00000414315;STRAND=-;CDS=c.101C>G;AA=p.S34*;CNT=3 +17 7578437 COSM1172489 G A . . GENE=TP53_ENST00000413465;STRAND=-;CDS=c.493C>T;AA=p.Q165*;CNT=1 +17 7578437 COSM1172490 G A . . GENE=TP53_ENST00000545858;STRAND=-;CDS=c.214C>T;AA=p.Q72*;CNT=1 +17 7578437 COSM43632 G A . . GENE=TP53;STRAND=-;CDS=c.493C>T;AA=p.Q165*;CNT=1 +17 7578437 COSM1172488 G A . . GENE=TP53_ENST00000269305;STRAND=-;CDS=c.493C>T;AA=p.Q165*;CNT=1 +17 7578437 COSM1172491 G A . . GENE=TP53_ENST00000414315;STRAND=-;CDS=c.97C>T;AA=p.Q33*;CNT=1 +17 7578438 COSM1194559 C A . . GENE=TP53_ENST00000414315;STRAND=-;CDS=c.96G>T;AA=p.K32N;CNT=1 +17 7578438 COSM1194557 C A . . GENE=TP53_ENST00000413465;STRAND=-;CDS=c.492G>T;AA=p.K164N;CNT=1 +17 7578438 COSM1194556 C A . . GENE=TP53_ENST00000269305;STRAND=-;CDS=c.492G>T;AA=p.K164N;CNT=1 +17 7578438 COSM1194558 C A . . GENE=TP53_ENST00000545858;STRAND=-;CDS=c.213G>T;AA=p.K71N;CNT=1 +17 7578438 COSM11369 C A . . GENE=TP53;STRAND=-;CDS=c.492G>T;AA=p.K164N;CNT=1 +17 7578440 COSM380907 T A . . GENE=TP53_ENST00000414315;STRAND=-;CDS=c.94A>T;AA=p.K32*;CNT=1 +17 7578440 COSM380905 T A . . GENE=TP53_ENST00000413465;STRAND=-;CDS=c.490A>T;AA=p.K164*;CNT=1 +17 7578440 COSM10750 T A . . GENE=TP53;STRAND=-;CDS=c.490A>T;AA=p.K164*;CNT=1 +17 7578440 COSM707874 T C . . GENE=TP53_ENST00000545858;STRAND=-;CDS=c.211A>G;AA=p.K71E;CNT=1 +17 7578440 COSM380904 T A . . GENE=TP53_ENST00000269305;STRAND=-;CDS=c.490A>T;AA=p.K164*;CNT=1 +17 7578440 COSM380906 T A . . GENE=TP53_ENST00000545858;STRAND=-;CDS=c.211A>T;AA=p.K71*;CNT=1 +17 7578440 COSM707872 T C . . GENE=TP53_ENST00000269305;STRAND=-;CDS=c.490A>G;AA=p.K164E;CNT=1 +17 7578440 COSM707875 T C . . GENE=TP53_ENST00000414315;STRAND=-;CDS=c.94A>G;AA=p.K32E;CNT=1 +17 7578440 COSM707873 T C . . GENE=TP53_ENST00000413465;STRAND=-;CDS=c.490A>G;AA=p.K164E;CNT=1 +17 7578440 COSM10762 T C . . GENE=TP53;STRAND=-;CDS=c.490A>G;AA=p.K164E;CNT=2 +17 7578442 COSM129852 T C . . GENE=TP53_ENST00000269305;STRAND=-;CDS=c.488A>G;AA=p.Y163C;CNT=11 +17 7578442 COSM10808 T C . . GENE=TP53;STRAND=-;CDS=c.488A>G;AA=p.Y163C;CNT=16 +17 7578442 COSM129854 T C . . GENE=TP53_ENST00000545858;STRAND=-;CDS=c.209A>G;AA=p.Y70C;CNT=11 +17 7578442 COSM129855 T C . . GENE=TP53_ENST00000414315;STRAND=-;CDS=c.92A>G;AA=p.Y31C;CNT=11 +17 7578442 COSM129853 T C . . GENE=TP53_ENST00000413465;STRAND=-;CDS=c.488A>G;AA=p.Y163C;CNT=11 +17 7578442 COSM437560 TAGA T . . GENE=TP53;STRAND=-;CDS=c.485_487delTCT;AA=p.I162_Y163>N;CNT=1 +17 7578442 COSM437561 TAGA T . . GENE=TP53_ENST00000269305;STRAND=-;CDS=c.485_487delTCT;AA=p.I162_Y163>N;CNT=1 +17 7578442 COSM437562 TAGA T . . GENE=TP53_ENST00000413465;STRAND=-;CDS=c.485_487delTCT;AA=p.I162_Y163>N;CNT=1 +17 7578442 COSM437564 TAGA T . . GENE=TP53_ENST00000414315;STRAND=-;CDS=c.89_91delTCT;AA=p.I30_Y31>N;CNT=1 +17 7578442 COSM437563 TAGA T . . GENE=TP53_ENST00000545858;STRAND=-;CDS=c.206_208delTCT;AA=p.I69_Y70>N;CNT=1 +17 7578443 COSM226792 A C . . GENE=TP53_ENST00000414315;STRAND=-;CDS=c.91T>G;AA=p.Y31D;CNT=2 +17 7578443 COSM226793 A C . . GENE=TP53_ENST00000545858;STRAND=-;CDS=c.208T>G;AA=p.Y70D;CNT=2 +17 7578443 COSM44216 A C . . GENE=TP53;STRAND=-;CDS=c.487T>G;AA=p.Y163D;CNT=2 +17 7578443 COSM44623 A T . . GENE=TP53;STRAND=-;CDS=c.487T>A;AA=p.Y163N;CNT=2 +17 7578443 COSM307268 A T . . GENE=TP53_ENST00000269305;STRAND=-;CDS=c.487T>A;AA=p.Y163N;CNT=1 +17 7578443 COSM307270 A T . . GENE=TP53_ENST00000545858;STRAND=-;CDS=c.208T>A;AA=p.Y70N;CNT=1 +17 7578443 COSM43846 A G . . GENE=TP53;STRAND=-;CDS=c.487T>C;AA=p.Y163H;CNT=1 +17 7578443 COSM307269 A T . . GENE=TP53_ENST00000414315;STRAND=-;CDS=c.91T>A;AA=p.Y31N;CNT=1 +17 7578443 COSM307267 A T . . GENE=TP53_ENST00000413465;STRAND=-;CDS=c.487T>A;AA=p.Y163N;CNT=1 +17 7578443 COSM226791 A C . . GENE=TP53_ENST00000269305;STRAND=-;CDS=c.487T>G;AA=p.Y163D;CNT=2 +17 7578443 COSM226790 A C . . GENE=TP53_ENST00000413465;STRAND=-;CDS=c.487T>G;AA=p.Y163D;CNT=2 +17 7578445 COSM11966 A T . . GENE=TP53;STRAND=-;CDS=c.485T>A;AA=p.I162N;CNT=2 +17 7578445 COSM327539 A T . . GENE=TP53_ENST00000414315;STRAND=-;CDS=c.89T>A;AA=p.I30N;CNT=2 +17 7578445 COSM327538 A T . . GENE=TP53_ENST00000269305;STRAND=-;CDS=c.485T>A;AA=p.I162N;CNT=2 +17 7578445 COSM327537 A T . . GENE=TP53_ENST00000413465;STRAND=-;CDS=c.485T>A;AA=p.I162N;CNT=2 +17 7578445 COSM327540 A T . . GENE=TP53_ENST00000545858;STRAND=-;CDS=c.206T>A;AA=p.I69N;CNT=2 +17 7578446 COSM437566 T TN . . GENE=TP53_ENST00000269305;STRAND=-;CDS=c.483_484insTGGCC;AA=p.I162fs*10;CNT=1 +17 7578446 COSM437568 T TN . . GENE=TP53_ENST00000545858;STRAND=-;CDS=c.204_205insTGGCC;AA=p.I69fs*10;CNT=1 +17 7578446 COSM437565 T TN . . GENE=TP53;STRAND=-;CDS=c.483_484insTGGCC;AA=p.I162fs*10;CNT=1 +17 7578446 COSM437569 T TN . . GENE=TP53_ENST00000414315;STRAND=-;CDS=c.87_88insTGGCC;AA=p.I30fs*10;CNT=1 +17 7578446 COSM437567 T TN . . GENE=TP53_ENST00000413465;STRAND=-;CDS=c.483_484insTGGCC;AA=p.I162fs*10;CNT=1 +17 7578448 COSM85575 GCCATGGCGCGGACGCGGG G . . GENE=TP53;STRAND=-;CDS=c.464_481del18;AA=p.R156_A161del;CNT=1 +17 7578449 COSM249096 C T . . GENE=TP53_ENST00000414315;STRAND=-;CDS=c.85G>A;AA=p.A29T;CNT=4 +17 7578449 COSM10739 C T . . GENE=TP53;STRAND=-;CDS=c.481G>A;AA=p.A161T;CNT=4 +17 7578449 COSM249094 C T . . GENE=TP53_ENST00000413465;STRAND=-;CDS=c.481G>A;AA=p.A161T;CNT=4 +17 7578449 COSM249095 C T . . GENE=TP53_ENST00000269305;STRAND=-;CDS=c.481G>A;AA=p.A161T;CNT=4 +17 7578449 COSM249097 C T . . GENE=TP53_ENST00000545858;STRAND=-;CDS=c.202G>A;AA=p.A68T;CNT=4 +17 7578450 COSM1158488 CA C . . GENE=TP53;STRAND=-;CDS=c.479delT;AA=p.M160fs*10;CNT=1 +17 7578450 COSM1158489 CA C . . GENE=TP53_ENST00000269305;STRAND=-;CDS=c.479delT;AA=p.M160fs*10;CNT=1 +17 7578450 COSM1158490 CA C . . GENE=TP53_ENST00000413465;STRAND=-;CDS=c.479delT;AA=p.M160fs*10;CNT=1 +17 7578450 COSM1158492 CA C . . GENE=TP53_ENST00000414315;STRAND=-;CDS=c.83delT;AA=p.M28fs*10;CNT=1 +17 7578450 COSM1158491 CA C . . GENE=TP53_ENST00000545858;STRAND=-;CDS=c.200delT;AA=p.M67fs*10;CNT=1 +17 7578452 COSM306853 TGGCGCG TGG . . GENE=TP53_ENST00000414315;STRAND=-;CDS=c.76_81CGCGCC>CC;AA=p.R26fs;CNT=2 +17 7578452 COSM306851 TGGCGCG TGG . . GENE=TP53_ENST00000413465;STRAND=-;CDS=c.472_477CGCGCC>CC;AA=p.R158fs;CNT=2 +17 7578452 COSM306850 TGGCGCG TGG . . GENE=TP53;STRAND=-;CDS=c.472_477CGCGCC>CC;AA=p.R158fs*11;CNT=2 +17 7578452 COSM306852 TGGCGCG TGG . . GENE=TP53_ENST00000269305;STRAND=-;CDS=c.472_477CGCGCC>CC;AA=p.R158fs;CNT=2 +17 7578452 COSM306854 TGGCGCG TGG . . GENE=TP53_ENST00000545858;STRAND=-;CDS=c.193_198CGCGCC>CC;AA=p.R65fs;CNT=2 +17 7578452 COSM405129 TGGCGCGGACG T . . GENE=TP53;STRAND=-;CDS=c.468_477del10;AA=p.V157fs*10;CNT=1 +17 7578452 COSM405130 TGGCGCGGACG T . . GENE=TP53_ENST00000269305;STRAND=-;CDS=c.468_477del10;AA=p.V157fs*10;CNT=1 +17 7578452 COSM405131 TGGCGCGGACG T . . GENE=TP53_ENST00000413465;STRAND=-;CDS=c.468_477del10;AA=p.V157fs*10;CNT=1 +17 7578452 COSM405133 TGGCGCGGACG T . . GENE=TP53_ENST00000414315;STRAND=-;CDS=c.72_81del10;AA=p.V25fs*10;CNT=1 +17 7578452 COSM405132 TGGCGCGGACG T . . GENE=TP53_ENST00000545858;STRAND=-;CDS=c.189_198del10;AA=p.V64fs*10;CNT=1 +17 7578454 COSM288919 G A . . GENE=TP53_ENST00000413465;STRAND=-;CDS=c.476C>T;AA=p.A159V;CNT=4 +17 7578454 COSM11148 G A . . GENE=TP53;STRAND=-;CDS=c.476C>T;AA=p.A159V;CNT=6 +17 7578454 COSM288922 G A . . GENE=TP53_ENST00000545858;STRAND=-;CDS=c.197C>T;AA=p.A66V;CNT=4 +17 7578454 COSM288920 G A . . GENE=TP53_ENST00000269305;STRAND=-;CDS=c.476C>T;AA=p.A159V;CNT=4 +17 7578454 COSM288921 G A . . GENE=TP53_ENST00000414315;STRAND=-;CDS=c.80C>T;AA=p.A27V;CNT=4 +17 7578454 COSM43831 GCGCG G . . GENE=TP53;STRAND=-;CDS=c.472_475delCGCG;AA=p.R158fs*11;CNT=1 +17 7578454 COSM215724 GCGCG G . . GENE=TP53_ENST00000269305;STRAND=-;CDS=c.472_475delCGCG;AA=p.R158fs*11;CNT=1 +17 7578454 COSM215723 GCGCG G . . GENE=TP53_ENST00000413465;STRAND=-;CDS=c.472_475delCGCG;AA=p.R158fs*11;CNT=1 +17 7578454 COSM215725 GCGCG G . . GENE=TP53_ENST00000414315;STRAND=-;CDS=c.76_79delCGCG;AA=p.R26fs*11;CNT=1 +17 7578454 COSM215726 GCGCG G . . GENE=TP53_ENST00000545858;STRAND=-;CDS=c.193_196delCGCG;AA=p.R65fs*11;CNT=1 +17 7578455 COSM562627 C G . . GENE=TP53_ENST00000545858;STRAND=-;CDS=c.196G>C;AA=p.A66P;CNT=2 +17 7578455 COSM45286 C A . . GENE=TP53;STRAND=-;CDS=c.475G>T;AA=p.A159S;CNT=1 +17 7578455 COSM43836 C G . . GENE=TP53;STRAND=-;CDS=c.475G>C;AA=p.A159P;CNT=2 +17 7578455 COSM1177659 C A . . GENE=TP53_ENST00000414315;STRAND=-;CDS=c.79G>T;AA=p.A27S;CNT=1 +17 7578455 COSM1177657 C A . . GENE=TP53_ENST00000413465;STRAND=-;CDS=c.475G>T;AA=p.A159S;CNT=1 +17 7578455 COSM562625 C G . . GENE=TP53_ENST00000269305;STRAND=-;CDS=c.475G>C;AA=p.A159P;CNT=2 +17 7578455 COSM1177658 C A . . GENE=TP53_ENST00000545858;STRAND=-;CDS=c.196G>T;AA=p.A66S;CNT=1 +17 7578455 COSM1177656 C A . . GENE=TP53_ENST00000269305;STRAND=-;CDS=c.475G>T;AA=p.A159S;CNT=1 +17 7578455 COSM562628 C G . . GENE=TP53_ENST00000414315;STRAND=-;CDS=c.79G>C;AA=p.A27P;CNT=2 +17 7578455 COSM562626 C G . . GENE=TP53_ENST00000413465;STRAND=-;CDS=c.475G>C;AA=p.A159P;CNT=2 +17 7578457 COSM220779 C T . . GENE=TP53_ENST00000269305;STRAND=-;CDS=c.473G>A;AA=p.R158H;CNT=5 +17 7578457 COSM10690 C T . . GENE=TP53;STRAND=-;CDS=c.473G>A;AA=p.R158H;CNT=5 +17 7578457 COSM220778 C T . . GENE=TP53_ENST00000413465;STRAND=-;CDS=c.473G>A;AA=p.R158H;CNT=5 +17 7578457 COSM99675 C A . . GENE=TP53_ENST00000413465;STRAND=-;CDS=c.473G>T;AA=p.R158L;CNT=13 +17 7578457 COSM10714 C A . . GENE=TP53;STRAND=-;CDS=c.473G>T;AA=p.R158L;CNT=13 +17 7578457 COSM99678 C A . . GENE=TP53_ENST00000269305;STRAND=-;CDS=c.473G>T;AA=p.R158L;CNT=13 +17 7578457 COSM99676 C A . . GENE=TP53_ENST00000414315;STRAND=-;CDS=c.77G>T;AA=p.R26L;CNT=13 +17 7578457 COSM99677 C A . . GENE=TP53_ENST00000545858;STRAND=-;CDS=c.194G>T;AA=p.R65L;CNT=13 +17 7578457 COSM220780 C T . . GENE=TP53_ENST00000414315;STRAND=-;CDS=c.77G>A;AA=p.R26H;CNT=5 +17 7578457 COSM220781 C T . . GENE=TP53_ENST00000545858;STRAND=-;CDS=c.194G>A;AA=p.R65H;CNT=5 +17 7578458 COSM318151 G C . . GENE=TP53_ENST00000413465;STRAND=-;CDS=c.472C>G;AA=p.R158G;CNT=2 +17 7578458 COSM318152 G C . . GENE=TP53_ENST00000269305;STRAND=-;CDS=c.472C>G;AA=p.R158G;CNT=2 +17 7578458 COSM318154 G C . . GENE=TP53_ENST00000545858;STRAND=-;CDS=c.193C>G;AA=p.R65G;CNT=2 +17 7578458 COSM11087 G C . . GENE=TP53;STRAND=-;CDS=c.472C>G;AA=p.R158G;CNT=2 +17 7578458 COSM318153 G C . . GENE=TP53_ENST00000414315;STRAND=-;CDS=c.76C>G;AA=p.R26G;CNT=2 +17 7578461 COSM131480 C A . . GENE=TP53_ENST00000269305;STRAND=-;CDS=c.469G>T;AA=p.V157F;CNT=9 +17 7578461 COSM10670 C A . . GENE=TP53;STRAND=-;CDS=c.469G>T;AA=p.V157F;CNT=14 +17 7578461 COSM131482 C A . . GENE=TP53_ENST00000545858;STRAND=-;CDS=c.190G>T;AA=p.V64F;CNT=9 +17 7578461 COSM131483 C A . . GENE=TP53_ENST00000414315;STRAND=-;CDS=c.73G>T;AA=p.V25F;CNT=9 +17 7578461 COSM131481 C A . . GENE=TP53_ENST00000413465;STRAND=-;CDS=c.469G>T;AA=p.V157F;CNT=9 +17 7578461 COSM1157909 CGCGGGTGCCGGGCG C . . GENE=TP53;STRAND=-;CDS=c.455_468del14;AA=p.P152fs*24;CNT=1 +17 7578461 COSM1157910 CGCGGGTGCCGGGCG C . . GENE=TP53_ENST00000269305;STRAND=-;CDS=c.455_468del14;AA=p.P152fs*24;CNT=1 +17 7578461 COSM1157911 CGCGGGTGCCGGGCG C . . GENE=TP53_ENST00000413465;STRAND=-;CDS=c.455_468del14;AA=p.P152fs*24;CNT=1 +17 7578461 COSM1157913 CGCGGGTGCCGGGCG C . . GENE=TP53_ENST00000414315;STRAND=-;CDS=c.59_72del14;AA=p.P20fs*24;CNT=1 +17 7578461 COSM1157912 CGCGGGTGCCGGGCG C . . GENE=TP53_ENST00000545858;STRAND=-;CDS=c.176_189del14;AA=p.P59fs*24;CNT=1 +17 7578462 COSM250017 GCGGGTGCCGGGCGGGGGTGT G . . GENE=TP53;STRAND=-;CDS=c.468_487del?;AA=p.?;CNT=1 +17 7578462 COSM250019 GCGGGTGCCGGGCGGGGGTGT G . . GENE=TP53_ENST00000269305;STRAND=-;CDS=c.468_487del?;AA=p.?;CNT=1 +17 7578462 COSM250018 GCGGGTGCCGGGCGGGGGTGT G . . GENE=TP53_ENST00000413465;STRAND=-;CDS=c.468_487del?;AA=p.?;CNT=1 +17 7578462 COSM250020 GCGGGTGCCGGGCGGGGGTGT G . . GENE=TP53_ENST00000414315;STRAND=-;CDS=c.93_112del?;AA=p.?;CNT=1 +17 7578462 COSM250021 GCGGGTGCCGGGCGGGGGTGT G . . GENE=TP53_ENST00000545858;STRAND=-;CDS=c.189_208del?;AA=p.?;CNT=1 +17 7578463 COSM10760 C G . . GENE=TP53;STRAND=-;CDS=c.467G>C;AA=p.R156P;CNT=1 +17 7578466 COSM213311 G T . . GENE=TP53_ENST00000269305;STRAND=-;CDS=c.464C>A;AA=p.T155N;CNT=1 +17 7578466 COSM562621 G A . . GENE=TP53_ENST00000269305;STRAND=-;CDS=c.464C>T;AA=p.T155I;CNT=1 +17 7578466 COSM213313 G T . . GENE=TP53_ENST00000545858;STRAND=-;CDS=c.185C>A;AA=p.T62N;CNT=1 +17 7578466 COSM562623 G A . . GENE=TP53_ENST00000545858;STRAND=-;CDS=c.185C>T;AA=p.T62I;CNT=1 +17 7578466 COSM213310 G T . . GENE=TP53_ENST00000413465;STRAND=-;CDS=c.464C>A;AA=p.T155N;CNT=1 +17 7578466 COSM11218 G T . . GENE=TP53;STRAND=-;CDS=c.464C>A;AA=p.T155N;CNT=1 +17 7578466 COSM44033 G A . . GENE=TP53;STRAND=-;CDS=c.464C>T;AA=p.T155I;CNT=1 +17 7578466 COSM562624 G A . . GENE=TP53_ENST00000414315;STRAND=-;CDS=c.68C>T;AA=p.T23I;CNT=1 +17 7578466 COSM562622 G A . . GENE=TP53_ENST00000413465;STRAND=-;CDS=c.464C>T;AA=p.T155I;CNT=1 +17 7578466 COSM213312 G T . . GENE=TP53_ENST00000414315;STRAND=-;CDS=c.68C>A;AA=p.T23N;CNT=1 +17 7578467 COSM44303 T C . . GENE=TP53;STRAND=-;CDS=c.463A>G;AA=p.T155A;CNT=1 +17 7578467 COSM117049 T C . . GENE=TP53_ENST00000413465;STRAND=-;CDS=c.463A>G;AA=p.T155A;CNT=1 +17 7578467 COSM357533 T G . . GENE=TP53_ENST00000545858;STRAND=-;CDS=c.184A>C;AA=p.T62P;CNT=2 +17 7578467 COSM357534 T G . . GENE=TP53_ENST00000414315;STRAND=-;CDS=c.67A>C;AA=p.T23P;CNT=2 +17 7578467 COSM117051 T C . . GENE=TP53_ENST00000545858;STRAND=-;CDS=c.184A>G;AA=p.T62A;CNT=1 +17 7578467 COSM10912 T G . . GENE=TP53;STRAND=-;CDS=c.463A>C;AA=p.T155P;CNT=2 +17 7578467 COSM117050 T C . . GENE=TP53_ENST00000414315;STRAND=-;CDS=c.67A>G;AA=p.T23A;CNT=1 +17 7578467 COSM357531 T G . . GENE=TP53_ENST00000269305;STRAND=-;CDS=c.463A>C;AA=p.T155P;CNT=2 +17 7578467 COSM357532 T G . . GENE=TP53_ENST00000413465;STRAND=-;CDS=c.463A>C;AA=p.T155P;CNT=2 +17 7578467 COSM117052 T C . . GENE=TP53_ENST00000269305;STRAND=-;CDS=c.463A>G;AA=p.T155A;CNT=1 +17 7578468 COSM111973 G GCCGGGCGGGGGTGTGGAATCAGTG . . GENE=TP53_ENST00000413465;STRAND=-;CDS=c.461_462ins24;AA=p.T155_R156insDSTPPPGT;CNT=1 +17 7578468 COSM111975 G GCCGGGCGGGGGTGTGGAATCAGTG . . GENE=TP53_ENST00000545858;STRAND=-;CDS=c.182_183ins24;AA=p.T62_R63insDSTPPPGT;CNT=1 +17 7578468 COSM111976 G GCCGGGCGGGGGTGTGGAATCAGTG . . GENE=TP53_ENST00000269305;STRAND=-;CDS=c.461_462ins24;AA=p.T155_R156insDSTPPPGT;CNT=1 +17 7578468 COSM111972 G GCCGGGCGGGGGTGTGGAATCAGTG . . GENE=TP53;STRAND=-;CDS=c.461_462ins24;AA=p.T155_R156insDSTPPPGT;CNT=1 +17 7578468 COSM111974 G GCCGGGCGGGGGTGTGGAATCAGTG . . GENE=TP53_ENST00000414315;STRAND=-;CDS=c.65_66ins24;AA=p.T23_R24insDSTPPPGT;CNT=1 +17 7578469 COSM342245 C A . . GENE=TP53_ENST00000545858;STRAND=-;CDS=c.182G>T;AA=p.G61V;CNT=5 +17 7578469 COSM6815 C A . . GENE=TP53;STRAND=-;CDS=c.461G>T;AA=p.G154V;CNT=5 +17 7578469 COSM342244 C A . . GENE=TP53_ENST00000413465;STRAND=-;CDS=c.461G>T;AA=p.G154V;CNT=5 +17 7578469 COSM342246 C A . . GENE=TP53_ENST00000414315;STRAND=-;CDS=c.65G>T;AA=p.G22V;CNT=5 +17 7578469 COSM342243 C A . . GENE=TP53_ENST00000269305;STRAND=-;CDS=c.461G>T;AA=p.G154V;CNT=5 +17 7578469 COSM69087 CCGGGCGGGGGTGTGGAATCAACCCACAGCTG C . . GENE=TP53;STRAND=-;CDS=c.430_460del31;AA=p.Q144fs*16;CNT=1 +17 7578469 COSM111416 CCGGGCGGGGGTGT C . . GENE=TP53;STRAND=-;CDS=c.448_460del13;AA=p.T150fs*16;CNT=1 +17 7578469 COSM111420 CCGGGCGGGGGTGT C . . GENE=TP53_ENST00000269305;STRAND=-;CDS=c.448_460del13;AA=p.T150fs*16;CNT=1 +17 7578469 COSM111417 CCGGGCGGGGGTGT C . . GENE=TP53_ENST00000413465;STRAND=-;CDS=c.448_460del13;AA=p.T150fs*16;CNT=1 +17 7578469 COSM111418 CCGGGCGGGGGTGT C . . GENE=TP53_ENST00000414315;STRAND=-;CDS=c.52_64del13;AA=p.T18fs*16;CNT=1 +17 7578469 COSM111419 CCGGGCGGGGGTGT C . . GENE=TP53_ENST00000545858;STRAND=-;CDS=c.169_181del13;AA=p.T57fs*16;CNT=1 +17 7578470 COSM167465 C A . . GENE=TP53_ENST00000545858;STRAND=-;CDS=c.181G>T;AA=p.G61C;CNT=1 +17 7578470 COSM167463 C A . . GENE=TP53_ENST00000269305;STRAND=-;CDS=c.460G>T;AA=p.G154C;CNT=1 +17 7578470 COSM167462 C A . . GENE=TP53_ENST00000413465;STRAND=-;CDS=c.460G>T;AA=p.G154C;CNT=1 +17 7578470 COSM167464 C A . . GENE=TP53_ENST00000414315;STRAND=-;CDS=c.64G>T;AA=p.G22C;CNT=1 +17 7578470 COSM44715 C A . . GENE=TP53;STRAND=-;CDS=c.460G>T;AA=p.G154C;CNT=1 +17 7578470 COSM404850 CG C . . GENE=TP53;STRAND=-;CDS=c.459delC;AA=p.G154fs*16;CNT=1 +17 7578470 COSM404851 CG C . . GENE=TP53_ENST00000269305;STRAND=-;CDS=c.459delC;AA=p.G154fs*16;CNT=1 +17 7578470 COSM404852 CG C . . GENE=TP53_ENST00000413465;STRAND=-;CDS=c.459delC;AA=p.G154fs*16;CNT=1 +17 7578470 COSM404854 CG C . . GENE=TP53_ENST00000414315;STRAND=-;CDS=c.63delC;AA=p.G22fs*16;CNT=1 +17 7578470 COSM404853 CG C . . GENE=TP53_ENST00000545858;STRAND=-;CDS=c.180delC;AA=p.G61fs*16;CNT=1 +17 7578473 COSM392240 G GN . . GENE=TP53_ENST00000269305;STRAND=-;CDS=c.456_457insT;AA=p.P153fs*28;CNT=1 +17 7578473 COSM392242 G GN . . GENE=TP53_ENST00000545858;STRAND=-;CDS=c.177_178insT;AA=p.P60fs*28;CNT=1 +17 7578473 COSM392239 G GN . . GENE=TP53;STRAND=-;CDS=c.456_457insT;AA=p.P153fs*28;CNT=1 +17 7578473 COSM392241 G GN . . GENE=TP53_ENST00000413465;STRAND=-;CDS=c.456_457insT;AA=p.P153fs*28;CNT=1 +17 7578473 COSM392243 G GN . . GENE=TP53_ENST00000414315;STRAND=-;CDS=c.60_61insT;AA=p.P21fs*28;CNT=1 +17 7578474 COSM43792 CG C . . GENE=TP53;STRAND=-;CDS=c.455delC;AA=p.P152fs*18;CNT=2 +17 7578474 COSM1180849 CG C . . GENE=TP53_ENST00000269305;STRAND=-;CDS=c.455delC;AA=p.P152fs*18;CNT=2 +17 7578474 COSM1180850 CG C . . GENE=TP53_ENST00000413465;STRAND=-;CDS=c.455delC;AA=p.P152fs*18;CNT=2 +17 7578474 COSM1180852 CG C . . GENE=TP53_ENST00000414315;STRAND=-;CDS=c.59delC;AA=p.P20fs*18;CNT=2 +17 7578474 COSM1180851 CG C . . GENE=TP53_ENST00000545858;STRAND=-;CDS=c.176delC;AA=p.P59fs*18;CNT=2 +17 7578475 COSM171825 G C . . GENE=TP53_ENST00000545858;STRAND=-;CDS=c.176C>G;AA=p.P59R;CNT=1 +17 7578475 COSM129858 G A . . GENE=TP53_ENST00000545858;STRAND=-;CDS=c.176C>T;AA=p.P59L;CNT=3 +17 7578475 COSM129859 G A . . GENE=TP53_ENST00000414315;STRAND=-;CDS=c.59C>T;AA=p.P20L;CNT=3 +17 7578475 COSM129856 G A . . GENE=TP53_ENST00000269305;STRAND=-;CDS=c.455C>T;AA=p.P152L;CNT=3 +17 7578475 COSM10790 G A . . GENE=TP53;STRAND=-;CDS=c.455C>T;AA=p.P152L;CNT=3 +17 7578475 COSM171823 G C . . GENE=TP53_ENST00000269305;STRAND=-;CDS=c.455C>G;AA=p.P152R;CNT=1 +17 7578475 COSM171822 G C . . GENE=TP53_ENST00000413465;STRAND=-;CDS=c.455C>G;AA=p.P152R;CNT=1 +17 7578475 COSM45505 G C . . GENE=TP53;STRAND=-;CDS=c.455C>G;AA=p.P152R;CNT=1 +17 7578475 COSM171824 G C . . GENE=TP53_ENST00000414315;STRAND=-;CDS=c.59C>G;AA=p.P20R;CNT=1 +17 7578475 COSM129857 G A . . GENE=TP53_ENST00000413465;STRAND=-;CDS=c.455C>T;AA=p.P152L;CNT=3 +17 7578478 COSM707869 G C . . GENE=TP53_ENST00000413465;STRAND=-;CDS=c.452C>G;AA=p.P151R;CNT=1 +17 7578478 COSM259152 G T . . GENE=TP53_ENST00000545858;STRAND=-;CDS=c.173C>A;AA=p.P58H;CNT=3 +17 7578478 COSM259151 G T . . GENE=TP53_ENST00000414315;STRAND=-;CDS=c.56C>A;AA=p.P19H;CNT=3 +17 7578478 COSM707871 G C . . GENE=TP53_ENST00000414315;STRAND=-;CDS=c.56C>G;AA=p.P19R;CNT=1 +17 7578478 COSM707868 G C . . GENE=TP53_ENST00000269305;STRAND=-;CDS=c.452C>G;AA=p.P151R;CNT=1 +17 7578478 COSM707870 G C . . GENE=TP53_ENST00000545858;STRAND=-;CDS=c.173C>G;AA=p.P58R;CNT=1 +17 7578478 COSM44003 G C . . GENE=TP53;STRAND=-;CDS=c.452C>G;AA=p.P151R;CNT=1 +17 7578478 COSM11476 G T . . GENE=TP53;STRAND=-;CDS=c.452C>A;AA=p.P151H;CNT=3 +17 7578478 COSM259149 G T . . GENE=TP53_ENST00000413465;STRAND=-;CDS=c.452C>A;AA=p.P151H;CNT=3 +17 7578478 COSM259150 G T . . GENE=TP53_ENST00000269305;STRAND=-;CDS=c.452C>A;AA=p.P151H;CNT=3 +17 7578479 COSM121049 G T . . GENE=TP53_ENST00000414315;STRAND=-;CDS=c.55C>A;AA=p.P19T;CNT=1 +17 7578479 COSM99682 G C . . GENE=TP53_ENST00000269305;STRAND=-;CDS=c.451C>G;AA=p.P151A;CNT=1 +17 7578479 COSM121048 G T . . GENE=TP53_ENST00000545858;STRAND=-;CDS=c.172C>A;AA=p.P58T;CNT=1 +17 7578479 COSM984963 G A . . GENE=TP53_ENST00000414315;STRAND=-;CDS=c.55C>T;AA=p.P19S;CNT=2 +17 7578479 COSM10905 G A . . GENE=TP53;STRAND=-;CDS=c.451C>T;AA=p.P151S;CNT=3 +17 7578479 COSM121047 G T . . GENE=TP53_ENST00000413465;STRAND=-;CDS=c.451C>A;AA=p.P151T;CNT=1 +17 7578479 COSM121046 G T . . GENE=TP53_ENST00000269305;STRAND=-;CDS=c.451C>A;AA=p.P151T;CNT=1 +17 7578479 COSM43911 G T . . GENE=TP53;STRAND=-;CDS=c.451C>A;AA=p.P151T;CNT=1 +17 7578479 COSM44944 G C . . GENE=TP53;STRAND=-;CDS=c.451C>G;AA=p.P151A;CNT=1 +17 7578479 COSM984959 G A . . GENE=TP53_ENST00000269305;STRAND=-;CDS=c.451C>T;AA=p.P151S;CNT=2 +17 7578479 COSM99681 G C . . GENE=TP53_ENST00000545858;STRAND=-;CDS=c.172C>G;AA=p.P58A;CNT=1 +17 7578479 COSM984961 G A . . GENE=TP53_ENST00000413465;STRAND=-;CDS=c.451C>T;AA=p.P151S;CNT=2 +17 7578479 COSM99680 G C . . GENE=TP53_ENST00000414315;STRAND=-;CDS=c.55C>G;AA=p.P19A;CNT=1 +17 7578479 COSM984962 G A . . GENE=TP53_ENST00000545858;STRAND=-;CDS=c.172C>T;AA=p.P58S;CNT=2 +17 7578479 COSM99679 G C . . GENE=TP53_ENST00000413465;STRAND=-;CDS=c.451C>G;AA=p.P151A;CNT=1 +17 7578484 COSM44099 GA G . . GENE=TP53;STRAND=-;CDS=c.445delT;AA=p.S149fs*21;CNT=1 +17 7578484 COSM1163644 GA G . . GENE=TP53_ENST00000269305;STRAND=-;CDS=c.445delT;AA=p.S149fs*21;CNT=1 +17 7578484 COSM1163645 GA G . . GENE=TP53_ENST00000413465;STRAND=-;CDS=c.445delT;AA=p.S149fs*21;CNT=1 +17 7578484 COSM1163647 GA G . . GENE=TP53_ENST00000414315;STRAND=-;CDS=c.49delT;AA=p.S17fs*21;CNT=1 +17 7578484 COSM1163646 GA G . . GENE=TP53_ENST00000545858;STRAND=-;CDS=c.166delT;AA=p.S56fs*21;CNT=1 +17 7578492 COSM131517 C T . . GENE=TP53_ENST00000269305;STRAND=-;CDS=c.438G>A;AA=p.W146*;CNT=2 +17 7578492 COSM131519 C T . . GENE=TP53_ENST00000545858;STRAND=-;CDS=c.159G>A;AA=p.W53*;CNT=2 +17 7578492 COSM131520 C T . . GENE=TP53_ENST00000414315;STRAND=-;CDS=c.42G>A;AA=p.W14*;CNT=2 +17 7578492 COSM10727 C T . . GENE=TP53;STRAND=-;CDS=c.438G>A;AA=p.W146*;CNT=3 +17 7578492 COSM131518 C T . . GENE=TP53_ENST00000413465;STRAND=-;CDS=c.438G>A;AA=p.W146*;CNT=2 +17 7578493 COSM417960 C G . . GENE=TP53_ENST00000269305;STRAND=-;CDS=c.437G>C;AA=p.W146S;CNT=1 +17 7578493 COSM417961 C G . . GENE=TP53_ENST00000413465;STRAND=-;CDS=c.437G>C;AA=p.W146S;CNT=1 +17 7578493 COSM43609 C T . . GENE=TP53;STRAND=-;CDS=c.437G>A;AA=p.W146*;CNT=1 +17 7578493 COSM417962 C G . . GENE=TP53_ENST00000545858;STRAND=-;CDS=c.158G>C;AA=p.W53S;CNT=1 +17 7578493 COSM1158445 C T . . GENE=TP53_ENST00000269305;STRAND=-;CDS=c.437G>A;AA=p.W146*;CNT=1 +17 7578493 COSM1158446 C T . . GENE=TP53_ENST00000413465;STRAND=-;CDS=c.437G>A;AA=p.W146*;CNT=1 +17 7578493 COSM1158448 C T . . GENE=TP53_ENST00000414315;STRAND=-;CDS=c.41G>A;AA=p.W14*;CNT=1 +17 7578493 COSM1158447 C T . . GENE=TP53_ENST00000545858;STRAND=-;CDS=c.158G>A;AA=p.W53*;CNT=1 +17 7578493 COSM46220 C G . . GENE=TP53;STRAND=-;CDS=c.437G>C;AA=p.W146S;CNT=1 +17 7578493 COSM417963 C G . . GENE=TP53_ENST00000414315;STRAND=-;CDS=c.41G>C;AA=p.W14S;CNT=1 +17 7578496 COSM44137 A T . . GENE=TP53;STRAND=-;CDS=c.434T>A;AA=p.L145Q;CNT=1 +17 7578496 COSM45351 A C . . GENE=TP53;STRAND=-;CDS=c.434T>G;AA=p.L145R;CNT=1 +17 7578496 COSM128671 AGCTG A . . GENE=TP53;STRAND=-;CDS=c.430_433delCAGC;AA=p.Q144fs*25;CNT=1 +17 7578496 COSM128672 AGCTG A . . GENE=TP53_ENST00000269305;STRAND=-;CDS=c.430_433delCAGC;AA=p.Q144fs*25;CNT=1 +17 7578496 COSM128673 AGCTG A . . GENE=TP53_ENST00000413465;STRAND=-;CDS=c.430_433delCAGC;AA=p.Q144fs*25;CNT=1 +17 7578496 COSM128675 AGCTG A . . GENE=TP53_ENST00000414315;STRAND=-;CDS=c.34_37delCAGC;AA=p.Q12fs*25;CNT=1 +17 7578496 COSM128674 AGCTG A . . GENE=TP53_ENST00000545858;STRAND=-;CDS=c.151_154delCAGC;AA=p.Q51fs*25;CNT=1 +17 7578500 COSM318147 G A . . GENE=TP53_ENST00000414315;STRAND=-;CDS=c.34C>T;AA=p.Q12*;CNT=4 +17 7578500 COSM318146 G A . . GENE=TP53_ENST00000269305;STRAND=-;CDS=c.430C>T;AA=p.Q144*;CNT=4 +17 7578500 COSM318148 G A . . GENE=TP53_ENST00000545858;STRAND=-;CDS=c.151C>T;AA=p.Q51*;CNT=4 +17 7578500 COSM318145 G A . . GENE=TP53_ENST00000413465;STRAND=-;CDS=c.430C>T;AA=p.Q144*;CNT=4 +17 7578500 COSM11245 G A . . GENE=TP53;STRAND=-;CDS=c.430C>T;AA=p.Q144*;CNT=8 +17 7578502 COSM98967 A G . . GENE=TP53_ENST00000413465;STRAND=-;CDS=c.428T>C;AA=p.V143A;CNT=1 +17 7578502 COSM98969 A G . . GENE=TP53_ENST00000545858;STRAND=-;CDS=c.149T>C;AA=p.V50A;CNT=1 +17 7578502 COSM179830 A G . . GENE=TP53_ENST00000269305;STRAND=-;CDS=c.428T>C;AA=p.V143A;CNT=1 +17 7578502 COSM11306 A G . . GENE=TP53;STRAND=-;CDS=c.428T>C;AA=p.V143A;CNT=1 +17 7578502 COSM98968 A G . . GENE=TP53_ENST00000414315;STRAND=-;CDS=c.32T>C;AA=p.V11A;CNT=1 +17 7578503 COSM220754 C T . . GENE=TP53_ENST00000269305;STRAND=-;CDS=c.427G>A;AA=p.V143M;CNT=1 +17 7578503 COSM220753 C T . . GENE=TP53_ENST00000413465;STRAND=-;CDS=c.427G>A;AA=p.V143M;CNT=1 +17 7578503 COSM220756 C T . . GENE=TP53_ENST00000545858;STRAND=-;CDS=c.148G>A;AA=p.V50M;CNT=1 +17 7578503 COSM43878 C T . . GENE=TP53;STRAND=-;CDS=c.427G>A;AA=p.V143M;CNT=1 +17 7578503 COSM220755 C T . . GENE=TP53_ENST00000414315;STRAND=-;CDS=c.31G>A;AA=p.V11M;CNT=1 +17 7578504 COSM69088 AGGGCAGG A . . GENE=TP53;STRAND=-;CDS=c.419_425delCCTGCCC;AA=p.T140fs*28;CNT=1 +17 7578504 COSM111674 AGGGCAGGTCTTGGCC A . . GENE=TP53;STRAND=-;CDS=c.411_425del15;AA=p.A138_P142delAKTCP;CNT=1 +17 7578504 COSM111678 AGGGCAGGTCTTGGCC A . . GENE=TP53_ENST00000269305;STRAND=-;CDS=c.411_425del15;AA=p.A138_P142delAKTCP;CNT=1 +17 7578504 COSM111675 AGGGCAGGTCTTGGCC A . . GENE=TP53_ENST00000413465;STRAND=-;CDS=c.411_425del15;AA=p.A138_P142delAKTCP;CNT=1 +17 7578504 COSM111676 AGGGCAGGTCTTGGCC A . . GENE=TP53_ENST00000414315;STRAND=-;CDS=c.15_29del15;AA=p.A6_P10delAKTCP;CNT=1 +17 7578504 COSM111677 AGGGCAGGTCTTGGCC A . . GENE=TP53_ENST00000545858;STRAND=-;CDS=c.132_146del15;AA=p.A45_P49delAKTCP;CNT=1 +17 7578507 COSM707867 G C . . GENE=TP53_ENST00000414315;STRAND=-;CDS=c.27C>G;AA=p.C9W;CNT=1 +17 7578507 COSM707864 G C . . GENE=TP53_ENST00000269305;STRAND=-;CDS=c.423C>G;AA=p.C141W;CNT=1 +17 7578507 COSM707865 G C . . GENE=TP53_ENST00000413465;STRAND=-;CDS=c.423C>G;AA=p.C141W;CNT=1 +17 7578507 COSM44204 G C . . GENE=TP53;STRAND=-;CDS=c.423C>G;AA=p.C141W;CNT=1 +17 7578507 COSM707866 G C . . GENE=TP53_ENST00000545858;STRAND=-;CDS=c.144C>G;AA=p.C48W;CNT=1 +17 7578508 COSM293912 C G . . GENE=TP53_ENST00000269305;STRAND=-;CDS=c.422G>C;AA=p.C141S;CNT=1 +17 7578508 COSM131473 C T . . GENE=TP53_ENST00000414315;STRAND=-;CDS=c.26G>A;AA=p.C9Y;CNT=5 +17 7578508 COSM293913 C G . . GENE=TP53_ENST00000414315;STRAND=-;CDS=c.26G>C;AA=p.C9S;CNT=1 +17 7578508 COSM293911 C G . . GENE=TP53_ENST00000413465;STRAND=-;CDS=c.422G>C;AA=p.C141S;CNT=1 +17 7578508 COSM43708 C T . . GENE=TP53;STRAND=-;CDS=c.422G>A;AA=p.C141Y;CNT=5 +17 7578508 COSM131470 C T . . GENE=TP53_ENST00000269305;STRAND=-;CDS=c.422G>A;AA=p.C141Y;CNT=5 +17 7578508 COSM293910 C G . . GENE=TP53;STRAND=-;CDS=c.422G>C;AA=p.C141S;CNT=1 +17 7578508 COSM131472 C T . . GENE=TP53_ENST00000545858;STRAND=-;CDS=c.143G>A;AA=p.C48Y;CNT=5 +17 7578508 COSM293914 C G . . GENE=TP53_ENST00000545858;STRAND=-;CDS=c.143G>C;AA=p.C48S;CNT=1 +17 7578508 COSM131471 C T . . GENE=TP53_ENST00000413465;STRAND=-;CDS=c.422G>A;AA=p.C141Y;CNT=5 +17 7578509 COSM290855 A G . . GENE=TP53_ENST00000269305;STRAND=-;CDS=c.421T>C;AA=p.C141R;CNT=1 +17 7578509 COSM43901 A G . . GENE=TP53;STRAND=-;CDS=c.421T>C;AA=p.C141R;CNT=1 +17 7578509 COSM290856 A G . . GENE=TP53_ENST00000414315;STRAND=-;CDS=c.25T>C;AA=p.C9R;CNT=1 +17 7578509 COSM290854 A G . . GENE=TP53_ENST00000413465;STRAND=-;CDS=c.421T>C;AA=p.C141R;CNT=1 +17 7578509 COSM290857 A G . . GENE=TP53_ENST00000545858;STRAND=-;CDS=c.142T>C;AA=p.C48R;CNT=1 +17 7578509 COSM69019 AG A . . GENE=TP53;STRAND=-;CDS=c.420delC;AA=p.C141fs*29;CNT=1 +17 7578509 COSM166235 AGGTCTT A . . GENE=TP53;STRAND=-;CDS=c.415_420delAAGACC;AA=p.K139_T140delKT;CNT=1 +17 7578509 COSM166237 AGGTCTT A . . GENE=TP53_ENST00000269305;STRAND=-;CDS=c.415_420delAAGACC;AA=p.K139_T140delKT;CNT=1 +17 7578509 COSM166236 AGGTCTT A . . GENE=TP53_ENST00000413465;STRAND=-;CDS=c.415_420delAAGACC;AA=p.K139_T140delKT;CNT=1 +17 7578509 COSM166238 AGGTCTT A . . GENE=TP53_ENST00000414315;STRAND=-;CDS=c.19_24delAAGACC;AA=p.K7_T8delKT;CNT=1 +17 7578509 COSM166239 AGGTCTT A . . GENE=TP53_ENST00000545858;STRAND=-;CDS=c.136_141delAAGACC;AA=p.K46_T47delKT;CNT=1 +17 7578512 COSM255062 TCTTGGCCAGTTGGC T . . GENE=TP53;STRAND=-;CDS=c.404_417del14;AA=p.C135fs*9;CNT=1 +17 7578512 COSM255064 TCTTGGCCAGTTGGC T . . GENE=TP53_ENST00000269305;STRAND=-;CDS=c.404_417del14;AA=p.C135fs*9;CNT=1 +17 7578512 COSM255063 TCTTGGCCAGTTGGC T . . GENE=TP53_ENST00000413465;STRAND=-;CDS=c.404_417del14;AA=p.C135fs*9;CNT=1 +17 7578512 COSM255065 TCTTGGCCAGTTGGC T . . GENE=TP53_ENST00000414315;STRAND=-;CDS=c.8_21del14;AA=p.C3fs*9;CNT=1 +17 7578512 COSM255066 TCTTGGCCAGTTGGC T . . GENE=TP53_ENST00000545858;STRAND=-;CDS=c.125_138del14;AA=p.C42fs*9;CNT=1 +17 7578513 COSM1158464 C CT . . GENE=TP53_ENST00000413465;STRAND=-;CDS=c.416_417insA;AA=p.T140fs*9;CNT=1 +17 7578513 COSM1158463 C CT . . GENE=TP53_ENST00000269305;STRAND=-;CDS=c.416_417insA;AA=p.T140fs*9;CNT=1 +17 7578513 COSM1158466 C CT . . GENE=TP53_ENST00000414315;STRAND=-;CDS=c.20_21insA;AA=p.T8fs*9;CNT=1 +17 7578513 COSM1158462 C CT . . GENE=TP53;STRAND=-;CDS=c.416_417insA;AA=p.T140fs*9;CNT=1 +17 7578513 COSM1158465 C CT . . GENE=TP53_ENST00000545858;STRAND=-;CDS=c.137_138insA;AA=p.T47fs*9;CNT=1 +17 7578515 COSM1172501 T A . . GENE=TP53_ENST00000269305;STRAND=-;CDS=c.415A>T;AA=p.K139*;CNT=1 +17 7578515 COSM1172503 T A . . GENE=TP53_ENST00000545858;STRAND=-;CDS=c.136A>T;AA=p.K46*;CNT=1 +17 7578515 COSM44678 T A . . GENE=TP53;STRAND=-;CDS=c.415A>T;AA=p.K139*;CNT=1 +17 7578515 COSM307285 T C . . GENE=TP53_ENST00000413465;STRAND=-;CDS=c.415A>G;AA=p.K139E;CNT=1 +17 7578515 COSM307287 T C . . GENE=TP53_ENST00000414315;STRAND=-;CDS=c.19A>G;AA=p.K7E;CNT=1 +17 7578515 COSM1172504 T A . . GENE=TP53_ENST00000414315;STRAND=-;CDS=c.19A>T;AA=p.K7*;CNT=1 +17 7578515 COSM1172502 T A . . GENE=TP53_ENST00000413465;STRAND=-;CDS=c.415A>T;AA=p.K139*;CNT=1 +17 7578515 COSM44449 T C . . GENE=TP53;STRAND=-;CDS=c.415A>G;AA=p.K139E;CNT=1 +17 7578515 COSM307288 T C . . GENE=TP53_ENST00000545858;STRAND=-;CDS=c.136A>G;AA=p.K46E;CNT=1 +17 7578515 COSM307286 T C . . GENE=TP53_ENST00000269305;STRAND=-;CDS=c.415A>G;AA=p.K139E;CNT=1 +17 7578515 COSM18594 TG T . . GENE=TP53;STRAND=-;CDS=c.414delC;AA=p.K139fs*31;CNT=1 +17 7578515 COSM166230 TG T . . GENE=TP53_ENST00000269305;STRAND=-;CDS=c.414delC;AA=p.K139fs*31;CNT=1 +17 7578515 COSM166229 TG T . . GENE=TP53_ENST00000413465;STRAND=-;CDS=c.414delC;AA=p.K139fs*31;CNT=1 +17 7578515 COSM166231 TG T . . GENE=TP53_ENST00000414315;STRAND=-;CDS=c.18delC;AA=p.K7fs*31;CNT=1 +17 7578515 COSM166232 TG T . . GENE=TP53_ENST00000545858;STRAND=-;CDS=c.135delC;AA=p.K46fs*31;CNT=1 +17 7578517 COSM43818 G A . . GENE=TP53;STRAND=-;CDS=c.413C>T;AA=p.A138V;CNT=1 +17 7578517 COSM288786 G A . . GENE=TP53_ENST00000414315;STRAND=-;CDS=c.17C>T;AA=p.A6V;CNT=1 +17 7578517 COSM288784 G A . . GENE=TP53_ENST00000413465;STRAND=-;CDS=c.413C>T;AA=p.A138V;CNT=1 +17 7578517 COSM288785 G A . . GENE=TP53_ENST00000269305;STRAND=-;CDS=c.413C>T;AA=p.A138V;CNT=1 +17 7578517 COSM288787 G A . . GENE=TP53_ENST00000545858;STRAND=-;CDS=c.134C>T;AA=p.A45V;CNT=1 +17 7578518 COSM11188 C G . . GENE=TP53;STRAND=-;CDS=c.412G>C;AA=p.A138P;CNT=1 +17 7578518 COSM129861 C G . . GENE=TP53_ENST00000413465;STRAND=-;CDS=c.412G>C;AA=p.A138P;CNT=1 +17 7578518 COSM129860 C G . . GENE=TP53_ENST00000269305;STRAND=-;CDS=c.412G>C;AA=p.A138P;CNT=1 +17 7578518 COSM129863 C G . . GENE=TP53_ENST00000414315;STRAND=-;CDS=c.16G>C;AA=p.A6P;CNT=1 +17 7578518 COSM129862 C G . . GENE=TP53_ENST00000545858;STRAND=-;CDS=c.133G>C;AA=p.A45P;CNT=1 +17 7578524 COSM126985 G A . . GENE=TP53_ENST00000269305;STRAND=-;CDS=c.406C>T;AA=p.Q136*;CNT=1 +17 7578524 COSM126987 G A . . GENE=TP53_ENST00000545858;STRAND=-;CDS=c.127C>T;AA=p.Q43*;CNT=1 +17 7578524 COSM126986 G A . . GENE=TP53_ENST00000413465;STRAND=-;CDS=c.406C>T;AA=p.Q136*;CNT=1 +17 7578524 COSM126988 G A . . GENE=TP53_ENST00000414315;STRAND=-;CDS=c.10C>T;AA=p.Q4*;CNT=1 +17 7578524 COSM11166 G A . . GENE=TP53;STRAND=-;CDS=c.406C>T;AA=p.Q136*;CNT=2 +17 7578525 COSM437602 G C . . GENE=TP53_ENST00000413465;STRAND=-;CDS=c.405C>G;AA=p.C135W;CNT=2 +17 7578525 COSM437601 G C . . GENE=TP53_ENST00000269305;STRAND=-;CDS=c.405C>G;AA=p.C135W;CNT=2 +17 7578525 COSM437604 G C . . GENE=TP53_ENST00000414315;STRAND=-;CDS=c.9C>G;AA=p.C3W;CNT=2 +17 7578525 COSM44219 G C . . GENE=TP53;STRAND=-;CDS=c.405C>G;AA=p.C135W;CNT=2 +17 7578525 COSM437603 G C . . GENE=TP53_ENST00000545858;STRAND=-;CDS=c.126C>G;AA=p.C42W;CNT=2 +17 7578526 COSM303851 C A . . GENE=TP53_ENST00000414315;STRAND=-;CDS=c.8G>T;AA=p.C3F;CNT=2 +17 7578526 COSM10801 C T . . GENE=TP53;STRAND=-;CDS=c.404G>A;AA=p.C135Y;CNT=3 +17 7578526 COSM44643 C G . . GENE=TP53;STRAND=-;CDS=c.404G>C;AA=p.C135S;CNT=1 +17 7578526 COSM10647 C A . . GENE=TP53;STRAND=-;CDS=c.404G>T;AA=p.C135F;CNT=2 +17 7578526 COSM300820 C G . . GENE=TP53_ENST00000414315;STRAND=-;CDS=c.8G>C;AA=p.C3S;CNT=1 +17 7578526 COSM300821 C G . . GENE=TP53_ENST00000545858;STRAND=-;CDS=c.125G>C;AA=p.C42S;CNT=1 +17 7578526 COSM303849 C A . . GENE=TP53_ENST00000413465;STRAND=-;CDS=c.404G>T;AA=p.C135F;CNT=2 +17 7578526 COSM300819 C G . . GENE=TP53_ENST00000269305;STRAND=-;CDS=c.404G>C;AA=p.C135S;CNT=1 +17 7578526 COSM303852 C A . . GENE=TP53_ENST00000545858;STRAND=-;CDS=c.125G>T;AA=p.C42F;CNT=2 +17 7578526 COSM99598 C T . . GENE=TP53_ENST00000413465;STRAND=-;CDS=c.404G>A;AA=p.C135Y;CNT=2 +17 7578526 COSM99599 C T . . GENE=TP53_ENST00000414315;STRAND=-;CDS=c.8G>A;AA=p.C3Y;CNT=2 +17 7578526 COSM99600 C T . . GENE=TP53_ENST00000545858;STRAND=-;CDS=c.125G>A;AA=p.C42Y;CNT=2 +17 7578526 COSM99601 C T . . GENE=TP53_ENST00000269305;STRAND=-;CDS=c.404G>A;AA=p.C135Y;CNT=2 +17 7578526 COSM300818 C G . . GENE=TP53_ENST00000413465;STRAND=-;CDS=c.404G>C;AA=p.C135S;CNT=1 +17 7578526 COSM303850 C A . . GENE=TP53_ENST00000269305;STRAND=-;CDS=c.404G>T;AA=p.C135F;CNT=2 +17 7578526 COSM13156 CA C . . GENE=TP53;STRAND=-;CDS=c.403delT;AA=p.C135fs*35;CNT=1 +17 7578526 COSM392225 CA C . . GENE=TP53_ENST00000269305;STRAND=-;CDS=c.403delT;AA=p.C135fs*35;CNT=1 +17 7578526 COSM392226 CA C . . GENE=TP53_ENST00000413465;STRAND=-;CDS=c.403delT;AA=p.C135fs*35;CNT=1 +17 7578526 COSM392228 CA C . . GENE=TP53_ENST00000414315;STRAND=-;CDS=c.7delT;AA=p.C3fs*35;CNT=1 +17 7578526 COSM392227 CA C . . GENE=TP53_ENST00000545858;STRAND=-;CDS=c.124delT;AA=p.C42fs*35;CNT=1 +17 7578527 COSM308321 A G . . GENE=TP53_ENST00000545858;STRAND=-;CDS=c.124T>C;AA=p.C42R;CNT=1 +17 7578527 COSM10684 A G . . GENE=TP53;STRAND=-;CDS=c.403T>C;AA=p.C135R;CNT=2 +17 7578527 COSM308319 A G . . GENE=TP53_ENST00000269305;STRAND=-;CDS=c.403T>C;AA=p.C135R;CNT=1 +17 7578527 COSM308320 A G . . GENE=TP53_ENST00000414315;STRAND=-;CDS=c.7T>C;AA=p.C3R;CNT=1 +17 7578527 COSM308318 A G . . GENE=TP53_ENST00000413465;STRAND=-;CDS=c.403T>C;AA=p.C135R;CNT=1 +17 7578527 COSM166221 AAAAC A . . GENE=TP53;STRAND=-;CDS=c.399_402delGTTT;AA=p.M133fs*36;CNT=1 +17 7578527 COSM166223 AAAAC A . . GENE=TP53_ENST00000269305;STRAND=-;CDS=c.399_402delGTTT;AA=p.M133fs*36;CNT=1 +17 7578527 COSM166222 AAAAC A . . GENE=TP53_ENST00000413465;STRAND=-;CDS=c.399_402delGTTT;AA=p.M133fs*36;CNT=1 +17 7578527 COSM166224 AAAAC A . . GENE=TP53_ENST00000414315;STRAND=-;CDS=c.3_6delGTTT;AA=p.?;CNT=1 +17 7578527 COSM166225 AAAAC A . . GENE=TP53_ENST00000545858;STRAND=-;CDS=c.120_123delGTTT;AA=p.M40fs*36;CNT=1 +17 7578530 COSM44654 A G . . GENE=TP53;STRAND=-;CDS=c.400T>C;AA=p.F134L;CNT=1 +17 7578530 COSM43941 A C . . GENE=TP53;STRAND=-;CDS=c.400T>G;AA=p.F134V;CNT=1 +17 7578530 COSM220775 A G . . GENE=TP53_ENST00000269305;STRAND=-;CDS=c.400T>C;AA=p.F134L;CNT=1 +17 7578530 COSM220777 A G . . GENE=TP53_ENST00000545858;STRAND=-;CDS=c.121T>C;AA=p.F41L;CNT=1 +17 7578530 COSM220776 A G . . GENE=TP53_ENST00000414315;STRAND=-;CDS=c.4T>C;AA=p.F2L;CNT=1 +17 7578530 COSM220774 A G . . GENE=TP53_ENST00000413465;STRAND=-;CDS=c.400T>C;AA=p.F134L;CNT=1 +17 7578534 COSM301220 C G . . GENE=TP53_ENST00000413465;STRAND=-;CDS=c.396G>C;AA=p.K132N;CNT=1 +17 7578534 COSM301222 C G . . GENE=TP53_ENST00000545858;STRAND=-;CDS=c.117G>C;AA=p.K39N;CNT=1 +17 7578534 COSM10991 C A . . GENE=TP53;STRAND=-;CDS=c.396G>T;AA=p.K132N;CNT=4 +17 7578534 COSM43963 C G . . GENE=TP53;STRAND=-;CDS=c.396G>C;AA=p.K132N;CNT=1 +17 7578534 COSM213186 C A . . GENE=TP53_ENST00000413465;STRAND=-;CDS=c.396G>T;AA=p.K132N;CNT=2 +17 7578534 COSM301221 C G . . GENE=TP53_ENST00000269305;STRAND=-;CDS=c.396G>C;AA=p.K132N;CNT=1 +17 7578534 COSM213187 C A . . GENE=TP53_ENST00000269305;STRAND=-;CDS=c.396G>T;AA=p.K132N;CNT=2 +17 7578534 COSM213188 C A . . GENE=TP53_ENST00000545858;STRAND=-;CDS=c.117G>T;AA=p.K39N;CNT=2 +17 7578535 COSM43592 T A . . GENE=TP53;STRAND=-;CDS=c.395A>T;AA=p.K132M;CNT=1 +17 7578535 COSM308311 T C . . GENE=TP53_ENST00000269305;STRAND=-;CDS=c.395A>G;AA=p.K132R;CNT=2 +17 7578535 COSM43912 T G . . GENE=TP53;STRAND=-;CDS=c.395A>C;AA=p.K132T;CNT=1 +17 7578535 COSM308310 T C . . GENE=TP53_ENST00000413465;STRAND=-;CDS=c.395A>G;AA=p.K132R;CNT=2 +17 7578535 COSM179832 T G . . GENE=TP53_ENST00000269305;STRAND=-;CDS=c.395A>C;AA=p.K132T;CNT=1 +17 7578535 COSM11582 T C . . GENE=TP53;STRAND=-;CDS=c.395A>G;AA=p.K132R;CNT=3 +17 7578535 COSM179831 T G . . GENE=TP53_ENST00000413465;STRAND=-;CDS=c.395A>C;AA=p.K132T;CNT=1 +17 7578535 COSM308312 T C . . GENE=TP53_ENST00000545858;STRAND=-;CDS=c.116A>G;AA=p.K39R;CNT=2 +17 7578535 COSM179833 T G . . GENE=TP53_ENST00000545858;STRAND=-;CDS=c.116A>C;AA=p.K39T;CNT=1 +17 7578536 COSM10813 T C . . GENE=TP53;STRAND=-;CDS=c.394A>G;AA=p.K132E;CNT=2 +17 7578536 COSM437609 T C . . GENE=TP53_ENST00000269305;STRAND=-;CDS=c.394A>G;AA=p.K132E;CNT=1 +17 7578536 COSM437610 T C . . GENE=TP53_ENST00000413465;STRAND=-;CDS=c.394A>G;AA=p.K132E;CNT=1 +17 7578536 COSM437611 T C . . GENE=TP53_ENST00000545858;STRAND=-;CDS=c.115A>G;AA=p.K39E;CNT=1 +17 7578538 COSM213374 T A . . GENE=TP53_ENST00000269305;STRAND=-;CDS=c.392A>T;AA=p.N131I;CNT=1 +17 7578538 COSM213375 T A . . GENE=TP53_ENST00000545858;STRAND=-;CDS=c.113A>T;AA=p.N38I;CNT=1 +17 7578538 COSM213373 T A . . GENE=TP53_ENST00000413465;STRAND=-;CDS=c.392A>T;AA=p.N131I;CNT=1 +17 7578538 COSM44794 T A . . GENE=TP53;STRAND=-;CDS=c.392A>T;AA=p.N131I;CNT=1 +17 7578541 COSM69196 A AGG . . GENE=TP53;STRAND=-;CDS=c.388_389insCC;AA=p.L130fs*41;CNT=1 +17 7578541 COSM45499 AG A . . GENE=TP53;STRAND=-;CDS=c.388delC;AA=p.L130fs*40;CNT=1 +17 7578541 COSM404934 AGGGCAG A . . GENE=TP53;STRAND=-;CDS=c.383_388delCTGCCC;AA=p.P128_A129delPA;CNT=1 +17 7578541 COSM1167680 AG A . . GENE=TP53_ENST00000269305;STRAND=-;CDS=c.388delC;AA=p.L130fs*40;CNT=1 +17 7578541 COSM404935 AGGGCAG A . . GENE=TP53_ENST00000269305;STRAND=-;CDS=c.383_388delCTGCCC;AA=p.P128_A129delPA;CNT=1 +17 7578541 COSM1167681 AG A . . GENE=TP53_ENST00000413465;STRAND=-;CDS=c.388delC;AA=p.L130fs*40;CNT=1 +17 7578541 COSM404936 AGGGCAG A . . GENE=TP53_ENST00000413465;STRAND=-;CDS=c.383_388delCTGCCC;AA=p.P128_A129delPA;CNT=1 +17 7578541 COSM1167682 AG A . . GENE=TP53_ENST00000545858;STRAND=-;CDS=c.109delC;AA=p.L37fs*40;CNT=1 +17 7578541 COSM404937 AGGGCAG A . . GENE=TP53_ENST00000545858;STRAND=-;CDS=c.104_109delCTGCCC;AA=p.P35_A36delPA;CNT=1 +17 7578542 COSM11449 G A . . GENE=TP53;STRAND=-;CDS=c.388C>T;AA=p.L130F;CNT=3 +17 7578542 COSM11462 G C . . GENE=TP53;STRAND=-;CDS=c.388C>G;AA=p.L130V;CNT=1 +17 7578542 COSM247950 G A . . GENE=TP53_ENST00000413465;STRAND=-;CDS=c.388C>T;AA=p.L130F;CNT=3 +17 7578542 COSM247952 G A . . GENE=TP53_ENST00000545858;STRAND=-;CDS=c.109C>T;AA=p.L37F;CNT=3 +17 7578542 COSM247951 G A . . GENE=TP53_ENST00000269305;STRAND=-;CDS=c.388C>T;AA=p.L130F;CNT=3 +17 7578544 COSM131020 GC G . . GENE=TP53;STRAND=-;CDS=c.385delG;AA=p.A129fs*41;CNT=1 +17 7578544 COSM131021 GC G . . GENE=TP53_ENST00000269305;STRAND=-;CDS=c.385delG;AA=p.A129fs*41;CNT=1 +17 7578544 COSM131022 GC G . . GENE=TP53_ENST00000413465;STRAND=-;CDS=c.385delG;AA=p.A129fs*41;CNT=1 +17 7578544 COSM131023 GC G . . GENE=TP53_ENST00000545858;STRAND=-;CDS=c.106delG;AA=p.A36fs*41;CNT=1 +17 7578550 COSM216414 G A . . GENE=TP53_ENST00000545858;STRAND=-;CDS=c.101C>T;AA=p.S34F;CNT=5 +17 7578550 COSM216413 G A . . GENE=TP53_ENST00000269305;STRAND=-;CDS=c.380C>T;AA=p.S127F;CNT=5 +17 7578550 COSM43970 G T . . GENE=TP53;STRAND=-;CDS=c.380C>A;AA=p.S127Y;CNT=1 +17 7578550 COSM562619 G C . . GENE=TP53_ENST00000413465;STRAND=-;CDS=c.380C>G;AA=p.S127C;CNT=2 +17 7578550 COSM562618 G C . . GENE=TP53_ENST00000269305;STRAND=-;CDS=c.380C>G;AA=p.S127C;CNT=2 +17 7578550 COSM45483 G C . . GENE=TP53;STRAND=-;CDS=c.380C>G;AA=p.S127C;CNT=2 +17 7578550 COSM216412 G A . . GENE=TP53_ENST00000413465;STRAND=-;CDS=c.380C>T;AA=p.S127F;CNT=5 +17 7578550 COSM44226 G A . . GENE=TP53;STRAND=-;CDS=c.380C>T;AA=p.S127F;CNT=7 +17 7578550 COSM562620 G C . . GENE=TP53_ENST00000545858;STRAND=-;CDS=c.101C>G;AA=p.S34C;CNT=2 +17 7578550 COSM242005 G GG . . GENE=TP53;STRAND=-;CDS=c.379_380insC;AA=p.A129fs*20;CNT=1 +17 7578550 COSM242007 G GG . . GENE=TP53_ENST00000269305;STRAND=-;CDS=c.379_380insC;AA=p.A129fs*20;CNT=1 +17 7578550 COSM242008 G GG . . GENE=TP53_ENST00000545858;STRAND=-;CDS=c.100_101insC;AA=p.A36fs*20;CNT=1 +17 7578550 COSM242006 G GG . . GENE=TP53_ENST00000413465;STRAND=-;CDS=c.379_380insC;AA=p.A129fs*20;CNT=1 +17 7578551 COSM1168839 A T . . GENE=TP53_ENST00000269305;STRAND=-;CDS=c.379T>A;AA=p.S127T;CNT=1 +17 7578551 COSM1168841 A T . . GENE=TP53_ENST00000545858;STRAND=-;CDS=c.100T>A;AA=p.S34T;CNT=1 +17 7578551 COSM259102 A G . . GENE=TP53_ENST00000545858;STRAND=-;CDS=c.100T>C;AA=p.S34P;CNT=1 +17 7578551 COSM53285 A T . . GENE=TP53;STRAND=-;CDS=c.379T>A;AA=p.S127T;CNT=1 +17 7578551 COSM44687 A G . . GENE=TP53;STRAND=-;CDS=c.379T>C;AA=p.S127P;CNT=1 +17 7578551 COSM259101 A G . . GENE=TP53_ENST00000269305;STRAND=-;CDS=c.379T>C;AA=p.S127P;CNT=1 +17 7578551 COSM259100 A G . . GENE=TP53_ENST00000413465;STRAND=-;CDS=c.379T>C;AA=p.S127P;CNT=1 +17 7578551 COSM1168840 A T . . GENE=TP53_ENST00000413465;STRAND=-;CDS=c.379T>A;AA=p.S127T;CNT=1 +17 7578552 COSM99945 G C . . GENE=TP53_ENST00000545858;STRAND=-;CDS=c.99C>G;AA=p.Y33*;CNT=2 +17 7578552 COSM99946 G C . . GENE=TP53_ENST00000269305;STRAND=-;CDS=c.378C>G;AA=p.Y126*;CNT=2 +17 7578552 COSM99944 G C . . GENE=TP53_ENST00000413465;STRAND=-;CDS=c.378C>G;AA=p.Y126*;CNT=2 +17 7578552 COSM10862 G C . . GENE=TP53;STRAND=-;CDS=c.378C>G;AA=p.Y126*;CNT=2 +17 7578554 COSM220784 A C . . GENE=TP53_ENST00000545858;STRAND=-;CDS=c.97T>G;AA=p.Y33D;CNT=3 +17 7578554 COSM220783 A C . . GENE=TP53_ENST00000269305;STRAND=-;CDS=c.376T>G;AA=p.Y126D;CNT=3 +17 7578554 COSM220782 A C . . GENE=TP53_ENST00000413465;STRAND=-;CDS=c.376T>G;AA=p.Y126D;CNT=3 +17 7578554 COSM43900 A C . . GENE=TP53;STRAND=-;CDS=c.376T>G;AA=p.Y126D;CNT=3 +17 7578555 COSM1167885 C A . . GENE=TP53_ENST00000269305;STRAND=-;CDS=c.376-1G>T;AA=p.?;CNT=1 +17 7578555 COSM1167887 C A . . GENE=TP53_ENST00000545858;STRAND=-;CDS=c.97-1G>T;AA=p.?;CNT=1 +17 7578555 COSM218536 C T . . GENE=TP53_ENST00000413465;STRAND=-;CDS=c.376-1G>A;AA=p.?;CNT=4 +17 7578555 COSM6900 C T . . GENE=TP53;STRAND=-;CDS=c.376-1G>A;AA=p.?;CNT=2 +17 7578555 COSM218538 C T . . GENE=TP53_ENST00000545858;STRAND=-;CDS=c.97-1G>A;AA=p.?;CNT=5 +17 7578555 COSM1167886 C A . . GENE=TP53_ENST00000413465;STRAND=-;CDS=c.376-1G>T;AA=p.?;CNT=1 +17 7578555 COSM21572 C T . . GENE=TP53;STRAND=-;CDS=c.376-1G>A;AA=p.?;CNT=4 +17 7578555 COSM22908 C A . . GENE=TP53;STRAND=-;CDS=c.376-1G>T;AA=p.?;CNT=3 +17 7578555 COSM218537 C T . . GENE=TP53_ENST00000269305;STRAND=-;CDS=c.376-1G>A;AA=p.?;CNT=4 +17 7578556 COSM21585 T A . . GENE=TP53;STRAND=-;CDS=c.376-2A>T;AA=p.?;CNT=2 +17 7578556 COSM45672 T C . . GENE=TP53;STRAND=-;CDS=c.376-2A>G;AA=p.?;CNT=4 +17 7578556 COSM562615 T A . . GENE=TP53_ENST00000269305;STRAND=-;CDS=c.376-2A>T;AA=p.?;CNT=2 +17 7578556 COSM318168 T C . . GENE=TP53_ENST00000545858;STRAND=-;CDS=c.97-2A>G;AA=p.?;CNT=2 +17 7578556 COSM562617 T A . . GENE=TP53_ENST00000545858;STRAND=-;CDS=c.97-2A>T;AA=p.?;CNT=2 +17 7578556 COSM562616 T A . . GENE=TP53_ENST00000413465;STRAND=-;CDS=c.376-2A>T;AA=p.?;CNT=2 +17 7578556 COSM318167 T C . . GENE=TP53_ENST00000269305;STRAND=-;CDS=c.376-2A>G;AA=p.?;CNT=2 +17 7578556 COSM318166 T C . . GENE=TP53_ENST00000413465;STRAND=-;CDS=c.376-2A>G;AA=p.?;CNT=2 +17 7579330 COSM122107 G T . . GENE=TP53_ENST00000269305;STRAND=-;CDS=c.357C>A;AA=p.A119A;CNT=1 +17 7579330 COSM43668 G T . . GENE=TP53;STRAND=-;CDS=c.357C>A;AA=p.A119A;CNT=1 +17 7579330 COSM122108 G T . . GENE=TP53_ENST00000413465;STRAND=-;CDS=c.357C>A;AA=p.A119A;CNT=1 +17 7579334 COSM318158 G GT . . GENE=TP53_ENST00000269305;STRAND=-;CDS=c.352_353insA;AA=p.T118fs*31;CNT=1 +17 7579334 COSM318157 G GT . . GENE=TP53_ENST00000413465;STRAND=-;CDS=c.352_353insA;AA=p.T118fs*31;CNT=1 +17 7579334 COSM318156 G GT . . GENE=TP53;STRAND=-;CDS=c.352_353insA;AA=p.T118fs*31;CNT=1 +17 7579335 COSM69197 T TC . . GENE=TP53;STRAND=-;CDS=c.351_352insG;AA=p.T118fs*31;CNT=1 +17 7579346 COSM46344 A T . . GENE=TP53;STRAND=-;CDS=c.341T>A;AA=p.L114*;CNT=2 +17 7579346 COSM331842 A T . . GENE=TP53_ENST00000413465;STRAND=-;CDS=c.341T>A;AA=p.L114*;CNT=2 +17 7579346 COSM331841 A T . . GENE=TP53_ENST00000269305;STRAND=-;CDS=c.341T>A;AA=p.L114*;CNT=2 +17 7579349 COSM287503 A C . . GENE=TP53_ENST00000269305;STRAND=-;CDS=c.338T>G;AA=p.F113C;CNT=2 +17 7579349 COSM10717 A C . . GENE=TP53;STRAND=-;CDS=c.338T>G;AA=p.F113C;CNT=2 +17 7579349 COSM287502 A C . . GENE=TP53_ENST00000413465;STRAND=-;CDS=c.338T>G;AA=p.F113C;CNT=2 +17 7579350 COSM165070 A C . . GENE=TP53_ENST00000413465;STRAND=-;CDS=c.337T>G;AA=p.F113V;CNT=1 +17 7579350 COSM165071 A C . . GENE=TP53_ENST00000269305;STRAND=-;CDS=c.337T>G;AA=p.F113V;CNT=1 +17 7579350 COSM11498 A C . . GENE=TP53;STRAND=-;CDS=c.337T>G;AA=p.F113V;CNT=1 +17 7579355 COSM44570 A C . . GENE=TP53;STRAND=-;CDS=c.332T>G;AA=p.L111R;CNT=2 +17 7579355 COSM707861 A T . . GENE=TP53_ENST00000413465;STRAND=-;CDS=c.332T>A;AA=p.L111Q;CNT=2 +17 7579355 COSM307284 A C . . GENE=TP53_ENST00000269305;STRAND=-;CDS=c.332T>G;AA=p.L111R;CNT=2 +17 7579355 COSM707860 A T . . GENE=TP53_ENST00000269305;STRAND=-;CDS=c.332T>A;AA=p.L111Q;CNT=2 +17 7579355 COSM307283 A C . . GENE=TP53_ENST00000413465;STRAND=-;CDS=c.332T>G;AA=p.L111R;CNT=2 +17 7579355 COSM44630 A T . . GENE=TP53;STRAND=-;CDS=c.332T>A;AA=p.L111Q;CNT=2 +17 7579358 COSM99929 C A . . GENE=TP53_ENST00000269305;STRAND=-;CDS=c.329G>T;AA=p.R110L;CNT=5 +17 7579358 COSM10716 C A . . GENE=TP53;STRAND=-;CDS=c.329G>T;AA=p.R110L;CNT=5 +17 7579358 COSM99928 C A . . GENE=TP53_ENST00000413465;STRAND=-;CDS=c.329G>T;AA=p.R110L;CNT=5 +17 7579358 COSM44669 CG C . . GENE=TP53;STRAND=-;CDS=c.328delC;AA=p.R110fs*13;CNT=2 +17 7579358 COSM166234 CG C . . GENE=TP53_ENST00000269305;STRAND=-;CDS=c.328delC;AA=p.R110fs*13;CNT=2 +17 7579358 COSM166233 CG C . . GENE=TP53_ENST00000413465;STRAND=-;CDS=c.328delC;AA=p.R110fs*13;CNT=2 +17 7579359 COSM43682 G A . . GENE=TP53;STRAND=-;CDS=c.328C>T;AA=p.R110C;CNT=1 +17 7579359 COSM247948 G A . . GENE=TP53_ENST00000413465;STRAND=-;CDS=c.328C>T;AA=p.R110C;CNT=1 +17 7579359 COSM247949 G A . . GENE=TP53_ENST00000269305;STRAND=-;CDS=c.328C>T;AA=p.R110C;CNT=1 +17 7579361 COSM265871 A C . . GENE=TP53_ENST00000413465;STRAND=-;CDS=c.326T>G;AA=p.F109C;CNT=1 +17 7579361 COSM78686 A C . . GENE=TP53;STRAND=-;CDS=c.326T>G;AA=p.F109C;CNT=2 +17 7579361 COSM45169 A G . . GENE=TP53;STRAND=-;CDS=c.326T>C;AA=p.F109S;CNT=1 +17 7579361 COSM148180 A G . . GENE=TP53_ENST00000413465;STRAND=-;CDS=c.326T>C;AA=p.F109S;CNT=1 +17 7579361 COSM265872 A C . . GENE=TP53_ENST00000269305;STRAND=-;CDS=c.326T>G;AA=p.F109C;CNT=1 +17 7579361 COSM148181 A G . . GENE=TP53_ENST00000269305;STRAND=-;CDS=c.326T>C;AA=p.F109S;CNT=1 +17 7579361 COSM111363 AAACCGTAGCTGCCCTGGTAGGTTTTCTGGGAAGGG A . . GENE=TP53;STRAND=-;CDS=c.291_325del35;AA=p.Q100fs*37;CNT=1 +17 7579361 COSM111365 AAACCGTAGCTGCCCTGGTAGGTTTTCTGGGAAGGG A . . GENE=TP53_ENST00000269305;STRAND=-;CDS=c.291_325del35;AA=p.Q100fs*37;CNT=1 +17 7579361 COSM111364 AAACCGTAGCTGCCCTGGTAGGTTTTCTGGGAAGGG A . . GENE=TP53_ENST00000413465;STRAND=-;CDS=c.291_325del35;AA=p.Q100fs*37;CNT=1 +17 7579362 COSM111991 A AACCGT . . GENE=TP53;STRAND=-;CDS=c.324_325insACGGT;AA=p.F109fs*16;CNT=1 +17 7579362 COSM111993 A AACCGT . . GENE=TP53_ENST00000269305;STRAND=-;CDS=c.324_325insACGGT;AA=p.F109fs*16;CNT=1 +17 7579362 COSM111992 A AACCGT . . GENE=TP53_ENST00000413465;STRAND=-;CDS=c.324_325insACGGT;AA=p.F109fs*16;CNT=1 +17 7579362 COSM13119 AACC A . . GENE=TP53;STRAND=-;CDS=c.322_324delGGT;AA=p.G108delG;CNT=3 +17 7579366 COSM213590 G T . . GENE=TP53_ENST00000269305;STRAND=-;CDS=c.321C>A;AA=p.Y107*;CNT=2 +17 7579366 COSM45040 G T . . GENE=TP53;STRAND=-;CDS=c.321C>A;AA=p.Y107*;CNT=2 +17 7579366 COSM213589 G T . . GENE=TP53_ENST00000413465;STRAND=-;CDS=c.321C>A;AA=p.Y107*;CNT=2 +17 7579368 COSM220765 A C . . GENE=TP53_ENST00000413465;STRAND=-;CDS=c.319T>G;AA=p.Y107D;CNT=4 +17 7579368 COSM220766 A C . . GENE=TP53_ENST00000269305;STRAND=-;CDS=c.319T>G;AA=p.Y107D;CNT=4 +17 7579368 COSM46103 A C . . GENE=TP53;STRAND=-;CDS=c.319T>G;AA=p.Y107D;CNT=4 +17 7579373 COSM562614 C T . . GENE=TP53_ENST00000413465;STRAND=-;CDS=c.314G>A;AA=p.G105D;CNT=1 +17 7579373 COSM45997 C T . . GENE=TP53;STRAND=-;CDS=c.314G>A;AA=p.G105D;CNT=1 +17 7579373 COSM562613 C T . . GENE=TP53_ENST00000269305;STRAND=-;CDS=c.314G>A;AA=p.G105D;CNT=1 +17 7579374 COSM78687 C T . . GENE=TP53;STRAND=-;CDS=c.313G>A;AA=p.G105S;CNT=1 +17 7579374 COSM338570 C A . . GENE=TP53_ENST00000269305;STRAND=-;CDS=c.313G>T;AA=p.G105C;CNT=2 +17 7579374 COSM44481 C A . . GENE=TP53;STRAND=-;CDS=c.313G>T;AA=p.G105C;CNT=3 +17 7579374 COSM338571 C A . . GENE=TP53_ENST00000413465;STRAND=-;CDS=c.313G>T;AA=p.G105C;CNT=2 +17 7579374 COSM45179 C G . . GENE=TP53;STRAND=-;CDS=c.313G>C;AA=p.G105R;CNT=1 +17 7579377 COSM308171 G A . . GENE=TP53_ENST00000413465;STRAND=-;CDS=c.310C>T;AA=p.Q104*;CNT=4 +17 7579377 COSM308172 G A . . GENE=TP53_ENST00000269305;STRAND=-;CDS=c.310C>T;AA=p.Q104*;CNT=4 +17 7579377 COSM10886 G A . . GENE=TP53;STRAND=-;CDS=c.310C>T;AA=p.Q104*;CNT=4 +17 7579378 COSM225046 G C . . GENE=TP53_ENST00000413465;STRAND=-;CDS=c.309C>G;AA=p.Y103*;CNT=1 +17 7579378 COSM44453 G C . . GENE=TP53;STRAND=-;CDS=c.309C>G;AA=p.Y103*;CNT=1 +17 7579378 COSM225047 G C . . GENE=TP53_ENST00000269305;STRAND=-;CDS=c.309C>G;AA=p.Y103*;CNT=1 +17 7579378 COSM707859 G T . . GENE=TP53_ENST00000413465;STRAND=-;CDS=c.309C>A;AA=p.Y103*;CNT=2 +17 7579378 COSM45307 G T . . GENE=TP53;STRAND=-;CDS=c.309C>A;AA=p.Y103*;CNT=2 +17 7579378 COSM707858 G T . . GENE=TP53_ENST00000269305;STRAND=-;CDS=c.309C>A;AA=p.Y103*;CNT=2 +17 7579379 COSM242009 TAGGT T . . GENE=TP53;STRAND=-;CDS=c.304_307delACCT;AA=p.Y103fs*19;CNT=1 +17 7579379 COSM255314 TAGGTTT T . . GENE=TP53;STRAND=-;CDS=c.302_307delAAACCT;AA=p.K101_Y103>N;CNT=1 +17 7579379 COSM242011 TAGGT T . . GENE=TP53_ENST00000269305;STRAND=-;CDS=c.304_307delACCT;AA=p.Y103fs*19;CNT=1 +17 7579379 COSM255316 TAGGTTT T . . GENE=TP53_ENST00000269305;STRAND=-;CDS=c.302_307delAAACCT;AA=p.K101_Y103>N;CNT=1 +17 7579379 COSM242010 TAGGT T . . GENE=TP53_ENST00000413465;STRAND=-;CDS=c.304_307delACCT;AA=p.Y103fs*19;CNT=1 +17 7579379 COSM255315 TAGGTTT T . . GENE=TP53_ENST00000413465;STRAND=-;CDS=c.302_307delAAACCT;AA=p.K101_Y103>N;CNT=1 +17 7579386 COSM323940 T A . . GENE=TP53_ENST00000413465;STRAND=-;CDS=c.301A>T;AA=p.K101*;CNT=2 +17 7579386 COSM45259 T A . . GENE=TP53;STRAND=-;CDS=c.301A>T;AA=p.K101*;CNT=2 +17 7579386 COSM323941 T A . . GENE=TP53_ENST00000269305;STRAND=-;CDS=c.301A>T;AA=p.K101*;CNT=2 +17 7579389 COSM1189392 G A . . GENE=TP53_ENST00000413465;STRAND=-;CDS=c.298C>T;AA=p.Q100*;CNT=1 +17 7579389 COSM1189391 G A . . GENE=TP53_ENST00000269305;STRAND=-;CDS=c.298C>T;AA=p.Q100*;CNT=1 +17 7579389 COSM44032 G A . . GENE=TP53;STRAND=-;CDS=c.298C>T;AA=p.Q100*;CNT=2 +17 7579389 COSM278467 GGGAA G . . GENE=TP53;STRAND=-;CDS=c.294_297delTTCC;AA=p.S99fs*23;CNT=1 +17 7579389 COSM278469 GGGAA G . . GENE=TP53_ENST00000269305;STRAND=-;CDS=c.294_297delTTCC;AA=p.S99fs*23;CNT=1 +17 7579389 COSM278468 GGGAA G . . GENE=TP53_ENST00000413465;STRAND=-;CDS=c.294_297delTTCC;AA=p.S99fs*23;CNT=1 +17 7579391 COSM85574 GAAGGG G . . GENE=TP53;STRAND=-;CDS=c.291_295delCCCTT;AA=p.S99fs*48;CNT=1 +17 7579391 COSM1166925 GAAGG G . . GENE=TP53;STRAND=-;CDS=c.292_295delCCTT;AA=p.S99fs*23;CNT=1 +17 7579391 COSM1166926 GAAGG G . . GENE=TP53_ENST00000269305;STRAND=-;CDS=c.292_295delCCTT;AA=p.S99fs*23;CNT=1 +17 7579391 COSM1166927 GAAGG G . . GENE=TP53_ENST00000413465;STRAND=-;CDS=c.292_295delCCTT;AA=p.S99fs*23;CNT=1 +17 7579396 COSM473435 G A . . GENE=TP53;STRAND=-;CDS=c.291C>T;AA=p.V97V;CNT=1 +17 7579396 COSM473436 G A . . GENE=TP53_ENST00000269305;STRAND=-;CDS=c.291C>T;AA=p.V97V;CNT=1 +17 7579396 COSM473437 G A . . GENE=TP53_ENST00000413465;STRAND=-;CDS=c.291C>T;AA=p.V97V;CNT=1 +17 7579409 COSM166218 AG A . . GENE=TP53;STRAND=-;CDS=c.277delC;AA=p.L93fs*30;CNT=1 +17 7579409 COSM166220 AG A . . GENE=TP53_ENST00000269305;STRAND=-;CDS=c.277delC;AA=p.L93fs*30;CNT=1 +17 7579409 COSM166219 AG A . . GENE=TP53_ENST00000413465;STRAND=-;CDS=c.277delC;AA=p.L93fs*30;CNT=1 +17 7579414 COSM44492 C T . . GENE=TP53;STRAND=-;CDS=c.273G>A;AA=p.W91*;CNT=3 +17 7579414 COSM562612 C T . . GENE=TP53_ENST00000413465;STRAND=-;CDS=c.273G>A;AA=p.W91*;CNT=3 +17 7579414 COSM562611 C T . . GENE=TP53_ENST00000269305;STRAND=-;CDS=c.273G>A;AA=p.W91*;CNT=3 +17 7579415 COSM323933 C T . . GENE=TP53_ENST00000413465;STRAND=-;CDS=c.272G>A;AA=p.W91*;CNT=1 +17 7579415 COSM44192 C T . . GENE=TP53;STRAND=-;CDS=c.272G>A;AA=p.W91*;CNT=1 +17 7579415 COSM323934 C T . . GENE=TP53_ENST00000269305;STRAND=-;CDS=c.272G>A;AA=p.W91*;CNT=1 +17 7579416 COSM242657 AGGAGGGGGCT A . . GENE=TP53;STRAND=-;CDS=c.261_270del10;AA=p.A88fs*32;CNT=1 +17 7579416 COSM242659 AGGAGGGGGCT A . . GENE=TP53_ENST00000269305;STRAND=-;CDS=c.261_270del10;AA=p.A88fs*32;CNT=1 +17 7579416 COSM242658 AGGAGGGGGCT A . . GENE=TP53_ENST00000413465;STRAND=-;CDS=c.261_270del10;AA=p.A88fs*32;CNT=1 +17 7579419 COSM131025 A AG . . GENE=TP53_ENST00000269305;STRAND=-;CDS=c.267_268insC;AA=p.S90fs*59;CNT=1 +17 7579419 COSM131024 A AG . . GENE=TP53;STRAND=-;CDS=c.267_268insC;AA=p.S90fs*59;CNT=1 +17 7579419 COSM131026 A AG . . GENE=TP53_ENST00000413465;STRAND=-;CDS=c.267_268insC;AA=p.S90fs*59;CNT=1 +17 7579419 COSM1180853 AG A . . GENE=TP53_ENST00000269305;STRAND=-;CDS=c.267delC;AA=p.S90fs*33;CNT=2 +17 7579419 COSM1180854 AG A . . GENE=TP53_ENST00000413465;STRAND=-;CDS=c.267delC;AA=p.S90fs*33;CNT=2 +17 7579422 COSM69021 GGGCTGGTGCA G . . GENE=TP53;STRAND=-;CDS=c.255_264del10;AA=p.A86fs*34;CNT=1 +17 7579423 COSM18610 GG G . . GENE=TP53;STRAND=-;CDS=c.263delC;AA=p.S90fs*33;CNT=2 +17 7579457 COSM562610 G A . . GENE=TP53_ENST00000413465;STRAND=-;CDS=c.230C>T;AA=p.P77L;CNT=1 +17 7579457 COSM562608 G A . . GENE=TP53;STRAND=-;CDS=c.230C>T;AA=p.P77L;CNT=1 +17 7579457 COSM562609 G A . . GENE=TP53_ENST00000269305;STRAND=-;CDS=c.230C>T;AA=p.P77L;CNT=1 +17 7579461 COSM69022 CA C . . GENE=TP53;STRAND=-;CDS=c.225delT;AA=p.A76fs*47;CNT=1 +17 7579462 COSM166226 AG A . . GENE=TP53;STRAND=-;CDS=c.224delC;AA=p.P75fs*48;CNT=1 +17 7579462 COSM166228 AG A . . GENE=TP53_ENST00000269305;STRAND=-;CDS=c.224delC;AA=p.P75fs*48;CNT=1 +17 7579462 COSM166227 AG A . . GENE=TP53_ENST00000413465;STRAND=-;CDS=c.224delC;AA=p.P75fs*48;CNT=1 +17 7579470 COSM128716 C CG . . GENE=TP53_ENST00000413465;STRAND=-;CDS=c.216_217insC;AA=p.V73fs*76;CNT=3 +17 7579470 COSM128714 C CG . . GENE=TP53;STRAND=-;CDS=c.216_217insC;AA=p.V73fs*76;CNT=3 +17 7579470 COSM128715 C CG . . GENE=TP53_ENST00000269305;STRAND=-;CDS=c.216_217insC;AA=p.V73fs*76;CNT=3 +17 7579475 COSM111573 GGA G . . GENE=TP53;STRAND=-;CDS=c.210_211delTC;AA=p.P72fs*76;CNT=1 +17 7579475 COSM111575 GGA G . . GENE=TP53_ENST00000269305;STRAND=-;CDS=c.210_211delTC;AA=p.P72fs*76;CNT=1 +17 7579475 COSM111574 GGA G . . GENE=TP53_ENST00000413465;STRAND=-;CDS=c.210_211delTC;AA=p.P72fs*76;CNT=1 +17 7579480 COSM707856 A G . . GENE=TP53_ENST00000269305;STRAND=-;CDS=c.207T>C;AA=p.A69A;CNT=1 +17 7579480 COSM707855 A G . . GENE=TP53;STRAND=-;CDS=c.207T>C;AA=p.A69A;CNT=1 +17 7579480 COSM707857 A G . . GENE=TP53_ENST00000413465;STRAND=-;CDS=c.207T>C;AA=p.A69A;CNT=1 +17 7579485 COSM11513 C A . . GENE=TP53;STRAND=-;CDS=c.202G>T;AA=p.E68*;CNT=1 +17 7579485 COSM131521 C A . . GENE=TP53_ENST00000269305;STRAND=-;CDS=c.202G>T;AA=p.E68*;CNT=1 +17 7579485 COSM131522 C A . . GENE=TP53_ENST00000413465;STRAND=-;CDS=c.202G>T;AA=p.E68*;CNT=1 +17 7579490 COSM111959 A AATTCTGGG . . GENE=TP53_ENST00000413465;STRAND=-;CDS=c.196_197insCCCAGAAT;AA=p.M66fs*60;CNT=1 +17 7579490 COSM111958 A AATTCTGGG . . GENE=TP53;STRAND=-;CDS=c.196_197insCCCAGAAT;AA=p.M66fs*60;CNT=1 +17 7579490 COSM111960 A AATTCTGGG . . GENE=TP53_ENST00000269305;STRAND=-;CDS=c.196_197insCCCAGAAT;AA=p.M66fs*60;CNT=1 +17 7579493 COSM218541 C CG . . GENE=TP53_ENST00000269305;STRAND=-;CDS=c.193_194insC;AA=p.R65fs*84;CNT=1 +17 7579493 COSM218540 C CG . . GENE=TP53_ENST00000413465;STRAND=-;CDS=c.193_194insC;AA=p.R65fs*84;CNT=1 +17 7579493 COSM218539 C CG . . GENE=TP53;STRAND=-;CDS=c.193_194insC;AA=p.R65fs*84;CNT=1 +17 7579494 COSM707853 T A . . GENE=TP53_ENST00000269305;STRAND=-;CDS=c.193A>T;AA=p.R65*;CNT=1 +17 7579494 COSM10885 T A . . GENE=TP53;STRAND=-;CDS=c.193A>T;AA=p.R65*;CNT=2 +17 7579494 COSM707854 T A . . GENE=TP53_ENST00000413465;STRAND=-;CDS=c.193A>T;AA=p.R65*;CNT=1 +17 7579494 COSM1159554 T TG . . GENE=TP53_ENST00000269305;STRAND=-;CDS=c.192_193insC;AA=p.R65fs*84;CNT=1 +17 7579494 COSM1159553 T TG . . GENE=TP53;STRAND=-;CDS=c.192_193insC;AA=p.R65fs*84;CNT=1 +17 7579494 COSM1159555 T TG . . GENE=TP53_ENST00000413465;STRAND=-;CDS=c.192_193insC;AA=p.R65fs*84;CNT=1 +17 7579503 COSM116689 C T . . GENE=TP53_ENST00000413465;STRAND=-;CDS=c.184G>A;AA=p.E62K;CNT=1 +17 7579503 COSM116688 C T . . GENE=TP53;STRAND=-;CDS=c.184G>A;AA=p.E62K;CNT=1 +17 7579503 COSM116690 C T . . GENE=TP53_ENST00000269305;STRAND=-;CDS=c.184G>A;AA=p.E62K;CNT=1 +17 7579507 COSM295960 TG T . . GENE=TP53;STRAND=-;CDS=c.179delC;AA=p.P60fs*63;CNT=1 +17 7579507 COSM295962 TG T . . GENE=TP53_ENST00000269305;STRAND=-;CDS=c.179delC;AA=p.P60fs*63;CNT=1 +17 7579507 COSM295961 TG T . . GENE=TP53_ENST00000413465;STRAND=-;CDS=c.179delC;AA=p.P60fs*63;CNT=1 +17 7579861 COSM220786 T C . . GENE=TP53_ENST00000413465;STRAND=-;CDS=c.52A>G;AA=p.T18A;CNT=1 +17 7579861 COSM220785 T C . . GENE=TP53;STRAND=-;CDS=c.52A>G;AA=p.T18A;CNT=1 +17 7579861 COSM220788 T C . . GENE=TP53_ENST00000545858;STRAND=-;CDS=c.52A>G;AA=p.T18A;CNT=1 +17 7579861 COSM220787 T C . . GENE=TP53_ENST00000269305;STRAND=-;CDS=c.52A>G;AA=p.T18A;CNT=1 +17 7579866 COSM12732 T A . . GENE=TP53;STRAND=-;CDS=c.47A>T;AA=p.Q16L;CNT=1 +17 7579866 COSM1197253 T A . . GENE=TP53_ENST00000413465;STRAND=-;CDS=c.47A>T;AA=p.Q16L;CNT=1 +17 7579866 COSM1197252 T A . . GENE=TP53_ENST00000269305;STRAND=-;CDS=c.47A>T;AA=p.Q16L;CNT=1 +17 7579866 COSM1197254 T A . . GENE=TP53_ENST00000545858;STRAND=-;CDS=c.47A>T;AA=p.Q16L;CNT=1 +17 7579866 COSM100007 TG T . . GENE=TP53;STRAND=-;CDS=c.46delC;AA=p.Q16fs*28;CNT=1 +17 7579866 COSM100010 TG T . . GENE=TP53_ENST00000269305;STRAND=-;CDS=c.46delC;AA=p.Q16fs*28;CNT=1 +17 7579866 COSM100008 TG T . . GENE=TP53_ENST00000413465;STRAND=-;CDS=c.46delC;AA=p.Q16fs*28;CNT=1 +17 7579866 COSM100009 TG T . . GENE=TP53_ENST00000545858;STRAND=-;CDS=c.46delC;AA=p.Q16fs*61;CNT=1 +17 37880219 COSM1205571 T A . . GENE=ERBB2;STRAND=+;CDS=c.2263T>A;AA=p.L755M;CNT=1 +17 37880220 COSM14060 T C . . GENE=ERBB2;STRAND=+;CDS=c.2264T>C;AA=p.L755S;CNT=2 +17 37880257 COSM51317 C G . . GENE=ERBB2;STRAND=+;CDS=c.2301C>G;AA=p.I767M;CNT=1 +17 37880981 COSM404915 A ANN . . GENE=ERBB2;STRAND=+;CDS=c.2310_2311ins12;AA=p.E770_A771insAYVM;CNT=2 +17 37881000 COSM14062 G T . . GENE=ERBB2;STRAND=+;CDS=c.2329G>T;AA=p.V777L;CNT=2 +17 37881010 COSM12555 C CGGGCTCCCC . . GENE=ERBB2;STRAND=+;CDS=c.2339_2340insGGGCTCCCC;AA=p.P780_Y781insGSP;CNT=1 +17 37881132 COSM116059 G T . . GENE=ERBB2;STRAND=+;CDS=c.2461G>T;AA=p.D821Y;CNT=1 +17 37881312 COSM213147 A T . . GENE=ERBB2;STRAND=+;CDS=c.2504A>T;AA=p.Y835F;CNT=1 +17 37881332 COSM14065 G A . . GENE=ERBB2;STRAND=+;CDS=c.2524G>A;AA=p.V842I;CNT=4 +17 37881410 COSM289684 C T . . GENE=ERBB2;STRAND=+;CDS=c.2602C>T;AA=p.R868W;CNT=1 +18 48575152 COSM84440 C T . . GENE=SMAD4;STRAND=+;CDS=c.346C>T;AA=p.Q116*;CNT=1 +18 48575159 COSM14215 C T . . GENE=SMAD4;STRAND=+;CDS=c.353C>T;AA=p.A118V;CNT=1 +18 48575172 COSM25274 A AA . . GENE=SMAD4;STRAND=+;CDS=c.366_367insA;AA=p.C123fs*2;CNT=1 +18 48575189 COSM1168851 T TA . . GENE=SMAD4;STRAND=+;CDS=c.383_384insA;AA=p.N129fs*14;CNT=1 +18 48575195 COSM218557 C T . . GENE=SMAD4;STRAND=+;CDS=c.389C>T;AA=p.P130L;CNT=1 +18 48575198 COSM84441 A G . . GENE=SMAD4;STRAND=+;CDS=c.392A>G;AA=p.Y131C;CNT=1 +18 48575200 COSM308154 C A . . GENE=SMAD4;STRAND=+;CDS=c.394C>A;AA=p.H132N;CNT=1 +18 48575206 COSM189730 G A . . GENE=SMAD4;STRAND=+;CDS=c.400G>A;AA=p.E134K;CNT=1 +18 48575209 COSM14168 C T . . GENE=SMAD4;STRAND=+;CDS=c.403C>T;AA=p.R135*;CNT=2 +18 48575213 COSM189731 T C . . GENE=SMAD4;STRAND=+;CDS=c.407T>C;AA=p.V136A;CNT=1 +18 48581229 COSM1226725 C A . . GENE=SMAD4;STRAND=+;CDS=c.533C>A;AA=p.S178*;CNT=1 +18 48581231 COSM318051 A T . . GENE=SMAD4;STRAND=+;CDS=c.535A>T;AA=p.I179F;CNT=1 +18 48581243 COSM308153 C T . . GENE=SMAD4;STRAND=+;CDS=c.547C>T;AA=p.Q183*;CNT=2 +18 48581307 COSM709388 C A . . GENE=SMAD4;STRAND=+;CDS=c.611C>A;AA=p.S204Y;CNT=1 +18 48584552 COSM563754 C G . . GENE=SMAD4;STRAND=+;CDS=c.725C>G;AA=p.S242*;CNT=1 +18 48584564 COSM1226728 C G . . GENE=SMAD4;STRAND=+;CDS=c.737C>G;AA=p.P246R;CNT=1 +18 48584569 COSM218558 C T . . GENE=SMAD4;STRAND=+;CDS=c.742C>T;AA=p.Q248*;CNT=1 +18 48584605 COSM85616 T TT . . GENE=SMAD4;STRAND=+;CDS=c.778_779insT;AA=p.Y260fs*4;CNT=2 +18 48584709 COSM87476 G T . . GENE=SMAD4;STRAND=+;CDS=c.788-1G>T;AA=p.?;CNT=1 +18 48586261 COSM164467 C G . . GENE=SMAD4;STRAND=+;CDS=c.930C>G;AA=p.F310L;CNT=1 +18 48586274 COSM438195 TC T . . GENE=SMAD4;STRAND=+;CDS=c.944delC;AA=p.N316fs*20;CNT=1 +18 48591803 COSM218559 T A . . GENE=SMAD4;STRAND=+;CDS=c.966T>A;AA=p.Y322*;CNT=1 +18 48591807 COSM189733 T C . . GENE=SMAD4;STRAND=+;CDS=c.970T>C;AA=p.C324R;CNT=1 +18 48591817 COSM189734 C T . . GENE=SMAD4;STRAND=+;CDS=c.980C>T;AA=p.A327V;CNT=1 +18 48591846 COSM417827 G A . . GENE=SMAD4;STRAND=+;CDS=c.1009G>A;AA=p.E337K;CNT=1 +18 48591865 COSM14111 C G . . GENE=SMAD4;STRAND=+;CDS=c.1028C>G;AA=p.S343*;CNT=1 +18 48591866 COSM362907 A T . . GENE=SMAD4;STRAND=+;CDS=c.1029A>T;AA=p.S343S;CNT=1 +18 48591888 COSM14135 G C . . GENE=SMAD4;STRAND=+;CDS=c.1051G>C;AA=p.D351H;CNT=1 +18 48591889 COSM373800 A G . . GENE=SMAD4;STRAND=+;CDS=c.1052A>G;AA=p.D351G;CNT=2 +18 48591901 COSM14232 A G . . GENE=SMAD4;STRAND=+;CDS=c.1064A>G;AA=p.D355G;CNT=1 +18 48591903 COSM1226726 C T . . GENE=SMAD4;STRAND=+;CDS=c.1066C>T;AA=p.P356S;CNT=1 +18 48591904 COSM14049 C T . . GENE=SMAD4;STRAND=+;CDS=c.1067C>T;AA=p.P356L;CNT=1 +18 48591904 COSM339351 C G . . GENE=SMAD4;STRAND=+;CDS=c.1067C>G;AA=p.P356R;CNT=1 +18 48591906 COSM189735 T C . . GENE=SMAD4;STRAND=+;CDS=c.1069T>C;AA=p.S357P;CNT=1 +18 48591909 COSM14174 G T . . GENE=SMAD4;STRAND=+;CDS=c.1072G>T;AA=p.G358*;CNT=1 +18 48591918 COSM14151 C A . . GENE=SMAD4;STRAND=+;CDS=c.1081C>A;AA=p.R361S;CNT=1 +18 48591918 COSM1158192 C G . . GENE=SMAD4;STRAND=+;CDS=c.1081C>G;AA=p.R361G;CNT=1 +18 48591918 COSM14140 C T . . GENE=SMAD4;STRAND=+;CDS=c.1081C>T;AA=p.R361C;CNT=5 +18 48591919 COSM14122 G A . . GENE=SMAD4;STRAND=+;CDS=c.1082G>A;AA=p.R361H;CNT=12 +18 48591965 COSM404989 TGA T . . GENE=SMAD4;STRAND=+;CDS=c.1129_1130delGA;AA=p.R378fs*14;CNT=1 +18 48591976 COSM1226732 G A . . GENE=SMAD4;STRAND=+;CDS=c.1139G>A;AA=p.R380K;CNT=1 +18 48593406 COSM1172551 G T . . GENE=SMAD4;STRAND=+;CDS=c.1157G>T;AA=p.G386V;CNT=2 +18 48593465 COSM14103 G A . . GENE=SMAD4;STRAND=+;CDS=c.1216G>A;AA=p.A406T;CNT=1 +18 48593478 COSM14223 A ACA . . GENE=SMAD4;STRAND=+;CDS=c.1229_1230insCA;AA=p.Q410fs*6;CNT=1 +18 48593490 COSM1158549 T TAA . . GENE=SMAD4;STRAND=+;CDS=c.1241_1242insAA;AA=p.D415fs*22;CNT=1 +18 48593498 COSM1158504 G T . . GENE=SMAD4;STRAND=+;CDS=c.1249G>T;AA=p.E417*;CNT=1 +18 48593532 COSM308152 A G . . GENE=SMAD4;STRAND=+;CDS=c.1283A>G;AA=p.K428R;CNT=1 +18 48593541 COSM218560 CA C . . GENE=SMAD4;STRAND=+;CDS=c.1293delA;AA=p.S432fs*4;CNT=1 +18 48603009 COSM265853 T A . . GENE=SMAD4;STRAND=+;CDS=c.1310T>A;AA=p.V437D;CNT=1 +18 48603032 COSM14096 C T . . GENE=SMAD4;STRAND=+;CDS=c.1333C>T;AA=p.R445*;CNT=2 +18 48603145 COSM308194 CAGTA C . . GENE=SMAD4;STRAND=+;CDS=c.1447_1447+3delAgta;AA=p.?;CNT=1 +18 48604652 COSM14222 G T . . GENE=SMAD4;STRAND=+;CDS=c.1474G>T;AA=p.V492F;CNT=1 +18 48604655 COSM14227 G A . . GENE=SMAD4;STRAND=+;CDS=c.1477G>A;AA=p.D493N;CNT=1 +18 48604656 COSM14171 A C . . GENE=SMAD4;STRAND=+;CDS=c.1478A>C;AA=p.D493A;CNT=1 +18 48604659 COSM84443 A G . . GENE=SMAD4;STRAND=+;CDS=c.1481A>G;AA=p.D494G;CNT=1 +18 48604665 COSM14193 G A . . GENE=SMAD4;STRAND=+;CDS=c.1487G>A;AA=p.R496H;CNT=1 +18 48604686 COSM85640 T TT . . GENE=SMAD4;STRAND=+;CDS=c.1508_1509insT;AA=p.M503fs*24;CNT=1 +18 48604690 COSM14148 T A . . GENE=SMAD4;STRAND=+;CDS=c.1512T>A;AA=p.S504R;CNT=1 +18 48604692 COSM1226727 T A . . GENE=SMAD4;STRAND=+;CDS=c.1514T>A;AA=p.F505Y;CNT=1 +18 48604704 COSM241693 G A . . GENE=SMAD4;STRAND=+;CDS=c.1526G>A;AA=p.W509*;CNT=1 +18 48604705 COSM35631 G A . . GENE=SMAD4;STRAND=+;CDS=c.1527G>A;AA=p.W509*;CNT=1 +18 48604706 COSM189742 G A . . GENE=SMAD4;STRAND=+;CDS=c.1528G>A;AA=p.G510R;CNT=1 +18 48604717 COSM299787 C G . . GENE=SMAD4;STRAND=+;CDS=c.1539C>G;AA=p.Y513*;CNT=1 +18 48604725 COSM85570 AGAGCATCA A . . GENE=SMAD4;STRAND=+;CDS=c.1548_1555delGAGCATCA;AA=p.S517fs*7;CNT=1 +18 48604736 COSM189743 G T . . GENE=SMAD4;STRAND=+;CDS=c.1558G>T;AA=p.E520*;CNT=1 +18 48604749 COSM1226729 G C . . GENE=SMAD4;STRAND=+;CDS=c.1571G>C;AA=p.W524S;CNT=1 +18 48604750 COSM218561 G C . . GENE=SMAD4;STRAND=+;CDS=c.1572G>C;AA=p.W524C;CNT=1 +18 48604754 COSM14134 G T . . GENE=SMAD4;STRAND=+;CDS=c.1576G>T;AA=p.E526*;CNT=1 +18 48604755 COSM218562 A T . . GENE=SMAD4;STRAND=+;CDS=c.1577A>T;AA=p.E526V;CNT=1 +18 48604776 COSM189744 T G . . GENE=SMAD4;STRAND=+;CDS=c.1598T>G;AA=p.L533R;CNT=1 +18 48604776 COSM1168852 T TCAG . . GENE=SMAD4;STRAND=+;CDS=c.1598_1599insCAG;AA=p.L533_Q534insS;CNT=1 +18 48604777 COSM85571 CC C . . GENE=SMAD4;STRAND=+;CDS=c.1600delC;AA=p.Q534fs*3;CNT=1 +18 48604785 COSM218563 T A . . GENE=SMAD4;STRAND=+;CDS=c.1607T>A;AA=p.L536Q;CNT=1 +18 48604785 COSM1168853 TAGACGA T . . GENE=SMAD4;STRAND=+;CDS=c.1608_1613delAGACGA;AA=p.D537_E538delDE;CNT=1 +18 48604787 COSM14164 G T . . GENE=SMAD4;STRAND=+;CDS=c.1609G>T;AA=p.D537Y;CNT=1 +18 48604788 COSM256174 A T . . GENE=SMAD4;STRAND=+;CDS=c.1610A>T;AA=p.D537V;CNT=1 +18 48604788 COSM168813 A G . . GENE=SMAD4;STRAND=+;CDS=c.1610A>G;AA=p.D537G;CNT=1 +18 48604789 COSM709386 C A . . GENE=SMAD4;STRAND=+;CDS=c.1611C>A;AA=p.D537E;CNT=1 +18 48604797 COSM14165 T G . . GENE=SMAD4;STRAND=+;CDS=c.1619T>G;AA=p.L540R;CNT=1 +18 48604799 COSM247457 C T . . GENE=SMAD4;STRAND=+;CDS=c.1621C>T;AA=p.H541Y;CNT=1 +19 1207009 COSM95668 G T . . GENE=STK11;STRAND=+;CDS=c.97G>T;AA=p.E33*;CNT=1 +19 1207064 COSM391251 T TN . . GENE=STK11;STRAND=+;CDS=c.152_153insG;AA=p.D53fs*110;CNT=1 +19 1207064 COSM27282 TG T . . GENE=STK11;STRAND=+;CDS=c.153delG;AA=p.D53fs*11;CNT=1 +19 1207076 COSM392566 TG T . . GENE=STK11;STRAND=+;CDS=c.165delG;AA=p.E57fs*7;CNT=1 +19 1207078 COSM48784 G T . . GENE=STK11;STRAND=+;CDS=c.166G>T;AA=p.G56W;CNT=1 +19 1207079 COSM166199 G GTTCC . . GENE=STK11;STRAND=+;CDS=c.167_168insTTCC;AA=p.E57fs*107;CNT=1 +19 1207092 COSM405206 CG C . . GENE=STK11;STRAND=+;CDS=c.181delG;AA=p.G61fs*3;CNT=1 +19 1207096 COSM382838 A T . . GENE=STK11;STRAND=+;CDS=c.184A>T;AA=p.K62*;CNT=1 +19 1207120 COSM25846 G T . . GENE=STK11;STRAND=+;CDS=c.208G>T;AA=p.E70*;CNT=2 +19 1220487 COSM20944 G T . . GENE=STK11;STRAND=+;CDS=c.580G>T;AA=p.D194Y;CNT=2 +19 1220502 COSM25229 G T . . GENE=STK11;STRAND=+;CDS=c.595G>T;AA=p.E199*;CNT=1 +19 1220629 COSM25844 C T . . GENE=STK11;STRAND=+;CDS=c.647C>T;AA=p.S216F;CNT=1 +19 1220636 COSM377894 T C . . GENE=STK11;STRAND=+;CDS=c.654T>C;AA=p.A218A;CNT=1 +19 1221241 COSM374278 TCG TTT . . GENE=STK11;STRAND=+;CDS=c.765_766CG>TT;AA=p.F255>?;CNT=1 +19 1221270 COSM371077 G T . . GENE=STK11;STRAND=+;CDS=c.793G>T;AA=p.E265*;CNT=1 +19 1221278 COSM392578 CG C . . GENE=STK11;STRAND=+;CDS=c.802delG;AA=p.K269fs*18;CNT=1 +19 1221293 COSM29005 C T . . GENE=STK11;STRAND=+;CDS=c.816C>T;AA=p.Y272Y;CNT=1 +19 1221336 COSM332311 A T . . GENE=STK11;STRAND=+;CDS=c.859A>T;AA=p.K287*;CNT=1 +19 3114956 COSM1208385 T G . . GENE=GNA11;STRAND=+;CDS=c.491T>G;AA=p.V164G;CNT=1 +19 3118941 COSM238583 C A . . GENE=GNA11;STRAND=+;CDS=c.625C>A;AA=p.Q209K;CNT=1 +19 3118942 COSM52969 A T . . GENE=GNA11;STRAND=+;CDS=c.626A>T;AA=p.Q209L;CNT=1 +19 3121039 COSM298454 G C . . GENE=GNA11;STRAND=+;CDS=c.942G>C;AA=p.V314V;CNT=1 +19 3121127 COSM994458 G A . . GENE=GNA11;STRAND=+;CDS=c.1030G>A;AA=p.V344M;CNT=1 +19 17945701 COSM182101 C T . . GENE=JAK3;STRAND=-;CDS=c.2159G>A;AA=p.S720N;CNT=1 +19 17945718 COSM182102 C T . . GENE=JAK3;STRAND=-;CDS=c.2142G>A;AA=p.T714T;CNT=1 +19 17945731 COSM389276 C A . . GENE=JAK3;STRAND=-;CDS=c.2129G>T;AA=p.G710V;CNT=1 +19 17945734 COSM389277 C A . . GENE=JAK3;STRAND=-;CDS=c.2126G>T;AA=p.W709L;CNT=1 +19 17945801 COSM1148108 T C . . GENE=JAK3_ENST00000458235;STRAND=-;CDS=c.2059A>G;AA=p.R687G;CNT=1 +19 17945801 COSM711177 T C . . GENE=JAK3;STRAND=-;CDS=c.2059A>G;AA=p.R687G;CNT=1 +19 17947985 COSM182104 G A . . GENE=JAK3;STRAND=-;CDS=c.1739C>T;AA=p.S580L;CNT=1 +19 17948006 COSM34215 G A . . GENE=JAK3;STRAND=-;CDS=c.1718C>T;AA=p.A573V;CNT=1 +2 29432652 COSM1020008 C A . . GENE=ALK;STRAND=-;CDS=c.3836G>T;AA=p.R1279M;CNT=1 +2 29432664 COSM28056 C T . . GENE=ALK;STRAND=-;CDS=c.3824G>A;AA=p.R1275Q;CNT=3 +2 29432669 COSM442799 CATCCCG C . . GENE=ALK;STRAND=-;CDS=c.3813_3818delCGGGAT;AA=p.F1271_M1273>L;CNT=1 +2 29432731 COSM1020010 T C . . GENE=ALK;STRAND=-;CDS=c.3757A>G;AA=p.R1253G;CNT=1 +2 29443697 COSM28054 A C . . GENE=ALK;STRAND=-;CDS=c.3520T>G;AA=p.F1174V;CNT=1 +2 29443698 COSM291452 T C . . GENE=ALK;STRAND=-;CDS=c.3519A>G;AA=p.K1173K;CNT=1 +2 209113112 COSM28746 C T . . GENE=IDH1;STRAND=-;CDS=c.395G>A;AA=p.R132H;CNT=31 +2 209113113 COSM28749 G C . . GENE=IDH1;STRAND=-;CDS=c.394C>G;AA=p.R132G;CNT=2 +2 209113113 COSM28748 G T . . GENE=IDH1;STRAND=-;CDS=c.394C>A;AA=p.R132S;CNT=2 +2 209113113 COSM28747 G A . . GENE=IDH1;STRAND=-;CDS=c.394C>T;AA=p.R132C;CNT=9 +2 209113151 COSM242544 C T . . GENE=IDH1;STRAND=-;CDS=c.356G>A;AA=p.R119Q;CNT=1 +2 209113181 COSM573095 C T . . GENE=IDH1;STRAND=-;CDS=c.326G>A;AA=p.R109K;CNT=1 +2 209113233 COSM1015580 A G . . GENE=IDH1;STRAND=-;CDS=c.274T>C;AA=p.W92R;CNT=1 +2 212288914 COSM573413 G T . . GENE=ERBB4;STRAND=-;CDS=c.2832C>A;AA=p.I944I;CNT=1 +2 212288940 COSM108015 C T . . GENE=ERBB4;STRAND=-;CDS=c.2806G>A;AA=p.G936R;CNT=1 +2 212288946 COSM270830 C T . . GENE=ERBB4;STRAND=-;CDS=c.2800G>A;AA=p.E934K;CNT=1 +2 212288964 COSM169572 C A . . GENE=ERBB4;STRAND=-;CDS=c.2782G>T;AA=p.E928*;CNT=1 +2 212288968 COSM1165236 C T . . GENE=ERBB4;STRAND=-;CDS=c.2778G>A;AA=p.T926T;CNT=1 +2 212288980 COSM573412 A T . . GENE=ERBB4;STRAND=-;CDS=c.2766T>A;AA=p.D922E;CNT=1 +2 212289002 COSM1015908 G C . . GENE=ERBB4;STRAND=-;CDS=c.2744C>G;AA=p.T915S;CNT=1 +2 212530063 COSM138342 G A . . GENE=ERBB4;STRAND=-;CDS=c.1856C>T;AA=p.P619L;CNT=1 +2 212530084 COSM232263 C T . . GENE=ERBB4;STRAND=-;CDS=c.1835G>A;AA=p.R612Q;CNT=1 +2 212530091 COSM573362 G T . . GENE=ERBB4;STRAND=-;CDS=c.1828C>A;AA=p.P610T;CNT=1 +2 212530126 COSM320161 T A . . GENE=ERBB4;STRAND=-;CDS=c.1793A>T;AA=p.Q598L;CNT=1 +2 212530171 COSM170797 A T . . GENE=ERBB4;STRAND=-;CDS=c.1748T>A;AA=p.F583Y;CNT=1 +2 212530179 COSM418876 G T . . GENE=ERBB4;STRAND=-;CDS=c.1740C>A;AA=p.C580*;CNT=1 +2 212530179 COSM1015978 G A . . GENE=ERBB4;STRAND=-;CDS=c.1740C>T;AA=p.C580C;CNT=1 +2 212530205 COSM573361 G A . . GENE=ERBB4;STRAND=-;CDS=c.1717-3C>T;AA=p.?;CNT=1 +2 212576841 COSM476867 A T . . GENE=ERBB4;STRAND=-;CDS=c.1058T>A;AA=p.I353N;CNT=1 +2 212576877 COSM110095 G A . . GENE=ERBB4;STRAND=-;CDS=c.1022C>T;AA=p.S341L;CNT=1 +2 212576881 COSM353101 C A . . GENE=ERBB4;STRAND=-;CDS=c.1018G>T;AA=p.G340*;CNT=1 +2 212576896 COSM573356 C A . . GENE=ERBB4;STRAND=-;CDS=c.1003G>T;AA=p.D335Y;CNT=1 +2 212578346 COSM573355 C A . . GENE=ERBB4;STRAND=-;CDS=c.911G>T;AA=p.C304F;CNT=2 +2 212578349 COSM1015992 G A . . GENE=ERBB4;STRAND=-;CDS=c.908C>T;AA=p.S303F;CNT=1 +2 212578372 COSM160825 A C . . GENE=ERBB4;STRAND=-;CDS=c.885T>G;AA=p.H295Q;CNT=1 +2 212587123 COSM476868 C A . . GENE=ERBB4;STRAND=-;CDS=c.878G>T;AA=p.C293F;CNT=1 +2 212587172 COSM1015994 G T . . GENE=ERBB4;STRAND=-;CDS=c.829C>A;AA=p.H277N;CNT=1 +2 212587198 COSM209862 T C . . GENE=ERBB4;STRAND=-;CDS=c.803A>G;AA=p.Y268C;CNT=1 +2 212587266 COSM573354 C T . . GENE=ERBB4;STRAND=-;CDS=c.742-7G>A;AA=p.?;CNT=1 +2 212589795 COSM280847 A G . . GENE=ERBB4;STRAND=-;CDS=c.741+6T>C;AA=p.?;CNT=1 +2 212589838 COSM573353 G A . . GENE=ERBB4;STRAND=-;CDS=c.704C>T;AA=p.A235V;CNT=1 +2 212589896 COSM1178899 G A . . GENE=ERBB4;STRAND=-;CDS=c.646C>T;AA=p.Q216*;CNT=1 +2 212589909 COSM1015997 C T . . GENE=ERBB4;STRAND=-;CDS=c.633G>A;AA=p.T211T;CNT=1 +2 212652768 COSM719372 T C . . GENE=ERBB4;STRAND=-;CDS=c.538A>G;AA=p.T180A;CNT=1 +2 212652804 COSM232262 G A . . GENE=ERBB4;STRAND=-;CDS=c.502C>T;AA=p.R168W;CNT=2 +2 212652809 COSM301362 A T . . GENE=ERBB4;STRAND=-;CDS=c.497T>A;AA=p.I166N;CNT=1 +2 212652840 COSM229461 A G . . GENE=ERBB4;STRAND=-;CDS=c.466T>C;AA=p.C156R;CNT=1 +2 212812187 COSM719371 C T . . GENE=ERBB4;STRAND=-;CDS=c.389G>A;AA=p.G130E;CNT=1 +2 212812224 COSM573350 C A . . GENE=ERBB4;STRAND=-;CDS=c.352G>T;AA=p.A118S;CNT=1 +2 212812227 COSM209863 A G . . GENE=ERBB4;STRAND=-;CDS=c.349T>C;AA=p.L117L;CNT=1 +2 212812236 COSM229699 G A . . GENE=ERBB4;STRAND=-;CDS=c.340C>T;AA=p.R114*;CNT=1 +2 212812260 COSM1205582 G A . . GENE=ERBB4;STRAND=-;CDS=c.316C>T;AA=p.R106C;CNT=1 +2 212812268 COSM573349 C A . . GENE=ERBB4;STRAND=-;CDS=c.308G>T;AA=p.R103L;CNT=1 +2 212812269 COSM719370 G A . . GENE=ERBB4;STRAND=-;CDS=c.307C>T;AA=p.R103C;CNT=1 +2 212812308 COSM394748 C T . . GENE=ERBB4;STRAND=-;CDS=c.268G>A;AA=p.A90T;CNT=1 +2 212812310 COSM394749 A G . . GENE=ERBB4;STRAND=-;CDS=c.266T>C;AA=p.V89A;CNT=1 +20 57484420 COSM123397 C T . . GENE=GNAS_ENST00000371100;STRAND=+;CDS=c.2530C>T;AA=p.R844C;CNT=12 +20 57484420 COSM27887 C T . . GENE=GNAS;STRAND=+;CDS=c.601C>T;AA=p.R201C;CNT=11 +20 57484421 COSM94388 G A . . GENE=GNAS_ENST00000371100;STRAND=+;CDS=c.2531G>A;AA=p.R844H;CNT=5 +20 57484421 COSM27895 G A . . GENE=GNAS;STRAND=+;CDS=c.602G>A;AA=p.R201H;CNT=5 +20 57484436 COSM1028498 G C . . GENE=GNAS;STRAND=+;CDS=c.617G>C;AA=p.G206A;CNT=1 +20 57484436 COSM1028497 G C . . GENE=GNAS_ENST00000371100;STRAND=+;CDS=c.2546G>C;AA=p.G849A;CNT=1 +22 24133958 COSM579671 C A . . GENE=SMARCB1_ENST00000344921;STRAND=+;CDS=c.109C>A;AA=p.R37S;CNT=1 +22 24133958 COSM579670 C A . . GENE=SMARCB1;STRAND=+;CDS=c.109C>A;AA=p.R37S;CNT=1 +22 24133963 COSM300998 GTTC G . . GENE=SMARCB1;STRAND=+;CDS=c.115_117delTTC;AA=p.F39delF;CNT=1 +22 24133967 COSM1002 C T . . GENE=SMARCB1;STRAND=+;CDS=c.118C>T;AA=p.R40*;CNT=2 +22 24134006 COSM24595 C T . . GENE=SMARCB1;STRAND=+;CDS=c.157C>T;AA=p.R53*;CNT=1 +22 24134046 COSM255201 C CA . . GENE=SMARCB1;STRAND=+;CDS=c.197_198insA;AA=p.S67fs*4;CNT=1 +22 24143214 COSM726164 C A . . GENE=SMARCB1;STRAND=+;CDS=c.446C>A;AA=p.T149K;CNT=1 +22 24143214 COSM726165 C A . . GENE=SMARCB1_ENST00000344921;STRAND=+;CDS=c.419C>A;AA=p.T140K;CNT=1 +22 24143232 COSM1032622 G A . . GENE=SMARCB1;STRAND=+;CDS=c.464G>A;AA=p.R155H;CNT=1 +22 24143232 COSM1032623 G A . . GENE=SMARCB1_ENST00000344921;STRAND=+;CDS=c.437G>A;AA=p.R146H;CNT=1 +22 24143240 COSM992 C T . . GENE=SMARCB1;STRAND=+;CDS=c.472C>T;AA=p.R158*;CNT=1 +22 24145583 COSM217231 G T . . GENE=SMARCB1;STRAND=+;CDS=c.602G>T;AA=p.R201L;CNT=2 +22 24145587 COSM1130489 C A . . GENE=SMARCB1_ENST00000344921;STRAND=+;CDS=c.633C>A;AA=p.D211E;CNT=1 +22 24145587 COSM1130488 C A . . GENE=SMARCB1;STRAND=+;CDS=c.606C>A;AA=p.D202E;CNT=1 +22 24145599 COSM994 G A . . GENE=SMARCB1;STRAND=+;CDS=c.618G>A;AA=p.W206*;CNT=1 +22 24176329 COSM1226779 C T . . GENE=SMARCB1_ENST00000344921;STRAND=+;CDS=c.1147C>T;AA=p.R383W;CNT=1 +22 24176329 COSM1226778 C T . . GENE=SMARCB1;STRAND=+;CDS=c.1120C>T;AA=p.R374W;CNT=1 +22 24176335 COSM1161418 A G . . GENE=SMARCB1_ENST00000344921;STRAND=+;CDS=c.1153A>G;AA=p.R385G;CNT=1 +22 24176335 COSM1161417 A G . . GENE=SMARCB1;STRAND=+;CDS=c.1126A>G;AA=p.R376G;CNT=1 +22 24176353 COSM29495 GC G . . GENE=SMARCB1;STRAND=+;CDS=c.1145delC;AA=p.P383fs*4;CNT=2 +3 10183771 COSM34029 T G . . GENE=VHL;STRAND=+;CDS=c.240T>G;AA=p.S80R;CNT=1 +3 10183776 COSM14382 G C . . GENE=VHL;STRAND=+;CDS=c.245G>C;AA=p.R82P;CNT=1 +3 10183788 COSM18028 C T . . GENE=VHL;STRAND=+;CDS=c.257C>T;AA=p.P86L;CNT=1 +3 10183794 COSM18351 G T . . GENE=VHL;STRAND=+;CDS=c.263G>T;AA=p.W88L;CNT=1 +3 10183794 COSM18070 G A . . GENE=VHL;STRAND=+;CDS=c.263G>A;AA=p.W88*;CNT=2 +3 10183797 COSM14346 T C . . GENE=VHL;STRAND=+;CDS=c.266T>C;AA=p.L89P;CNT=1 +3 10183848 COSM18082 G A . . GENE=VHL;STRAND=+;CDS=c.317G>A;AA=p.G106D;CNT=1 +3 10183863 COSM26151 G A . . GENE=VHL;STRAND=+;CDS=c.332G>A;AA=p.S111N;CNT=1 +3 10183867 COSM30227 C A . . GENE=VHL;STRAND=+;CDS=c.336C>A;AA=p.Y112*;CNT=1 +3 10183872 COSM30229 G A . . GENE=VHL;STRAND=+;CDS=c.340+1G>A;AA=p.?;CNT=1 +3 10183872 COSM479170 G C . . GENE=VHL;STRAND=+;CDS=c.340+1G>C;AA=p.?;CNT=1 +3 10188218 COSM34019 G T . . GENE=VHL;STRAND=+;CDS=c.361G>T;AA=p.D121Y;CNT=3 +3 10188224 COSM580792 G T . . GENE=VHL;STRAND=+;CDS=c.367G>T;AA=p.G123W;CNT=1 +3 10188237 COSM1232268 G T . . GENE=VHL;STRAND=+;CDS=c.380G>T;AA=p.G127V;CNT=1 +3 10188240 COSM17756 T A . . GENE=VHL;STRAND=+;CDS=c.383T>A;AA=p.L128H;CNT=4 +3 10188245 COSM14407 G C . . GENE=VHL;STRAND=+;CDS=c.388G>C;AA=p.V130L;CNT=1 +3 10188245 COSM97148 G T . . GENE=VHL;STRAND=+;CDS=c.388G>T;AA=p.V130F;CNT=1 +3 10188246 COSM14323 T A . . GENE=VHL;STRAND=+;CDS=c.389T>A;AA=p.V130D;CNT=1 +3 10188248 COSM17758 A T . . GENE=VHL;STRAND=+;CDS=c.391A>T;AA=p.N131Y;CNT=1 +3 10188254 COSM479174 A C . . GENE=VHL;STRAND=+;CDS=c.397A>C;AA=p.T133P;CNT=1 +3 10188257 COSM308465 GAATT G . . GENE=VHL;STRAND=+;CDS=c.401_404delAATT;AA=p.E134fs*24;CNT=1 +3 10188263 COSM18276 T G . . GENE=VHL;STRAND=+;CDS=c.406T>G;AA=p.F136V;CNT=1 +3 10188270 COSM307757 CATCTCTCA C . . GENE=VHL;STRAND=+;CDS=c.414_421delATCTCTCA;AA=p.S139fs*2;CNT=2 +3 10188287 COSM1035874 G A . . GENE=VHL;STRAND=+;CDS=c.430G>A;AA=p.G144R;CNT=1 +3 10188290 COSM97150 C T . . GENE=VHL;STRAND=+;CDS=c.433C>T;AA=p.Q145*;CNT=2 +3 10188307 COSM479175 TAT TTA . . GENE=VHL;STRAND=+;CDS=c.451_452AT>TA;AA=p.I151>?;CNT=1 +3 10188308 COSM17978 A T . . GENE=VHL;STRAND=+;CDS=c.451A>T;AA=p.I151F;CNT=1 +3 10188309 COSM17934 T C . . GENE=VHL;STRAND=+;CDS=c.452T>C;AA=p.I151T;CNT=2 +3 10188309 COSM18274 T A . . GENE=VHL;STRAND=+;CDS=c.452T>A;AA=p.I151N;CNT=1 +3 10188315 COSM14363 T C . . GENE=VHL;STRAND=+;CDS=c.458T>C;AA=p.L153P;CNT=1 +3 10188319 COSM17907 AG A . . GENE=VHL;STRAND=+;CDS=c.463delG;AA=p.V155fs*4;CNT=1 +3 10188320 COSM18152 G A . . GENE=VHL;STRAND=+;CDS=c.463G>A;AA=p.V155M;CNT=1 +3 10188321 COSM26152 G C . . GENE=VHL;STRAND=+;CDS=c.463+1G>C;AA=p.?;CNT=1 +3 10188321 COSM17989 G T . . GENE=VHL;STRAND=+;CDS=c.463+1G>T;AA=p.?;CNT=2 +3 10188322 COSM28287 T C . . GENE=VHL;STRAND=+;CDS=c.463+2T>C;AA=p.?;CNT=1 +3 10191469 COSM18054 A G . . GENE=VHL;STRAND=+;CDS=c.464-2A>G;AA=p.?;CNT=3 +3 10191470 COSM14376 G A . . GENE=VHL;STRAND=+;CDS=c.464-1G>A;AA=p.?;CNT=1 +3 10191470 COSM25675 G T . . GENE=VHL;STRAND=+;CDS=c.464-1G>T;AA=p.?;CNT=1 +3 10191470 COSM14437 G C . . GENE=VHL;STRAND=+;CDS=c.464-1G>C;AA=p.?;CNT=1 +3 10191475 COSM479176 T A . . GENE=VHL;STRAND=+;CDS=c.468T>A;AA=p.Y156*;CNT=1 +3 10191479 COSM17657 C G . . GENE=VHL;STRAND=+;CDS=c.472C>G;AA=p.L158V;CNT=3 +3 10191479 COSM479177 CTG CCC . . GENE=VHL;STRAND=+;CDS=c.473_474TG>CC;AA=p.L158>?;CNT=1 +3 10191480 COSM14387 T C . . GENE=VHL;STRAND=+;CDS=c.473T>C;AA=p.L158P;CNT=2 +3 10191481 COSM479178 G C . . GENE=VHL;STRAND=+;CDS=c.474G>C;AA=p.L158L;CNT=1 +3 10191482 COSM422840 A T . . GENE=VHL;STRAND=+;CDS=c.475A>T;AA=p.K159*;CNT=1 +3 10191485 COSM18075 G T . . GENE=VHL;STRAND=+;CDS=c.478G>T;AA=p.E160*;CNT=2 +3 10191488 COSM17612 C T . . GENE=VHL;STRAND=+;CDS=c.481C>T;AA=p.R161*;CNT=1 +3 10191489 COSM17909 G C . . GENE=VHL;STRAND=+;CDS=c.482G>C;AA=p.R161P;CNT=1 +3 10191491 COSM18073 T C . . GENE=VHL;STRAND=+;CDS=c.484T>C;AA=p.C162R;CNT=1 +3 10191492 COSM25676 G T . . GENE=VHL;STRAND=+;CDS=c.485G>T;AA=p.C162F;CNT=1 +3 10191492 COSM14408 G A . . GENE=VHL;STRAND=+;CDS=c.485G>A;AA=p.C162Y;CNT=1 +3 10191493 COSM18023 C G . . GENE=VHL;STRAND=+;CDS=c.486C>G;AA=p.C162W;CNT=1 +3 10191497 COSM17911 CAG C . . GENE=VHL;STRAND=+;CDS=c.491_492delAG;AA=p.Q164fs*9;CNT=1 +3 10191501 COSM17785 T A . . GENE=VHL;STRAND=+;CDS=c.494T>A;AA=p.V165D;CNT=1 +3 10191506 COSM14311 C T . . GENE=VHL;STRAND=+;CDS=c.499C>T;AA=p.R167W;CNT=1 +3 10191512 COSM34003 CT C . . GENE=VHL;STRAND=+;CDS=c.506delT;AA=p.L169fs*33;CNT=1 +3 10191513 COSM17837 T C . . GENE=VHL;STRAND=+;CDS=c.506T>C;AA=p.L169P;CNT=3 +3 10191524 COSM97152 G T . . GENE=VHL;STRAND=+;CDS=c.517G>T;AA=p.E173*;CNT=1 +3 10191531 COSM307756 ACAGGAGACT A . . GENE=VHL;STRAND=+;CDS=c.525_533delCAGGAGACT;AA=p.Y175_L178>*;CNT=1 +3 10191532 COSM17789 C A . . GENE=VHL;STRAND=+;CDS=c.525C>A;AA=p.Y175*;CNT=1 +3 10191533 COSM52030 AG A . . GENE=VHL;STRAND=+;CDS=c.527delG;AA=p.R176fs*25;CNT=1 +3 10191536 COSM17866 A T . . GENE=VHL;STRAND=+;CDS=c.529A>T;AA=p.R177*;CNT=1 +3 10191556 COSM727510 G A . . GENE=VHL;STRAND=+;CDS=c.549G>A;AA=p.S183S;CNT=1 +3 10191558 COSM17854 T C . . GENE=VHL;STRAND=+;CDS=c.551T>C;AA=p.L184P;CNT=2 +3 10191563 COSM168255 G A . . GENE=VHL;STRAND=+;CDS=c.556G>A;AA=p.E186K;CNT=1 +3 10191563 COSM25670 G T . . GENE=VHL;STRAND=+;CDS=c.556G>T;AA=p.E186*;CNT=1 +3 10191570 COSM25680 T G . . GENE=VHL;STRAND=+;CDS=c.563T>G;AA=p.L188R;CNT=1 +3 10191570 COSM25678 T C . . GENE=VHL;STRAND=+;CDS=c.563T>C;AA=p.L188P;CNT=2 +3 10191570 COSM479180 TGG TTT . . GENE=VHL;STRAND=+;CDS=c.564_565GG>TT;AA=p.L188>?;CNT=1 +3 10191571 COSM479179 G T . . GENE=VHL;STRAND=+;CDS=c.564G>T;AA=p.L188L;CNT=1 +3 10191572 COSM97154 G T . . GENE=VHL;STRAND=+;CDS=c.565G>T;AA=p.E189*;CNT=2 +3 10191590 COSM14359 C T . . GENE=VHL;STRAND=+;CDS=c.583C>T;AA=p.Q195*;CNT=1 +3 10191593 COSM30293 A T . . GENE=VHL;STRAND=+;CDS=c.586A>T;AA=p.K196*;CNT=1 +3 10191609 COSM1232271 T C . . GENE=VHL;STRAND=+;CDS=c.602T>C;AA=p.L201P;CNT=1 +3 10191621 COSM1232270 G A . . GENE=VHL;STRAND=+;CDS=c.614G>A;AA=p.R205H;CNT=1 +3 37067230 COSM583373 C A . . GENE=MLH1;STRAND=+;CDS=c.1141C>A;AA=p.H381N;CNT=1 +3 41266068 COSM238574 T G . . GENE=CTNNB1;STRAND=+;CDS=c.65T>G;AA=p.V22G;CNT=1 +3 41266078 COSM274695 G A . . GENE=CTNNB1;STRAND=+;CDS=c.75G>A;AA=p.W25*;CNT=1 +3 41266094 COSM730873 C A . . GENE=CTNNB1;STRAND=+;CDS=c.91C>A;AA=p.L31M;CNT=1 +3 41266097 COSM5668 G C . . GENE=CTNNB1;STRAND=+;CDS=c.94G>C;AA=p.D32H;CNT=2 +3 41266097 COSM5672 G A . . GENE=CTNNB1;STRAND=+;CDS=c.94G>A;AA=p.D32N;CNT=6 +3 41266097 COSM5661 G T . . GENE=CTNNB1;STRAND=+;CDS=c.94G>T;AA=p.D32Y;CNT=8 +3 41266098 COSM5690 A C . . GENE=CTNNB1;STRAND=+;CDS=c.95A>C;AA=p.D32A;CNT=4 +3 41266098 COSM5691 A T . . GENE=CTNNB1;STRAND=+;CDS=c.95A>T;AA=p.D32V;CNT=3 +3 41266098 COSM5681 A G . . GENE=CTNNB1;STRAND=+;CDS=c.95A>G;AA=p.D32G;CNT=9 +3 41266100 COSM5682 T C . . GENE=CTNNB1;STRAND=+;CDS=c.97T>C;AA=p.S33P;CNT=5 +3 41266100 COSM5683 T G . . GENE=CTNNB1;STRAND=+;CDS=c.97T>G;AA=p.S33A;CNT=1 +3 41266101 COSM5669 C T . . GENE=CTNNB1;STRAND=+;CDS=c.98C>T;AA=p.S33F;CNT=10 +3 41266101 COSM5677 C G . . GENE=CTNNB1;STRAND=+;CDS=c.98C>G;AA=p.S33C;CNT=13 +3 41266101 COSM5673 C A . . GENE=CTNNB1;STRAND=+;CDS=c.98C>A;AA=p.S33Y;CNT=5 +3 41266103 COSM5684 G C . . GENE=CTNNB1;STRAND=+;CDS=c.100G>C;AA=p.G34R;CNT=2 +3 41266103 COSM5686 G A . . GENE=CTNNB1;STRAND=+;CDS=c.100G>A;AA=p.G34R;CNT=13 +3 41266104 COSM5671 G A . . GENE=CTNNB1;STRAND=+;CDS=c.101G>A;AA=p.G34E;CNT=2 +3 41266104 COSM5670 G T . . GENE=CTNNB1;STRAND=+;CDS=c.101G>T;AA=p.G34V;CNT=7 +3 41266107 COSM5674 T G . . GENE=CTNNB1;STRAND=+;CDS=c.104T>G;AA=p.I35S;CNT=3 +3 41266109 COSM5703 C T . . GENE=CTNNB1;STRAND=+;CDS=c.106C>T;AA=p.H36Y;CNT=1 +3 41266110 COSM5678 A C . . GENE=CTNNB1;STRAND=+;CDS=c.107A>C;AA=p.H36P;CNT=1 +3 41266112 COSM5675 T G . . GENE=CTNNB1;STRAND=+;CDS=c.109T>G;AA=p.S37A;CNT=2 +3 41266112 COSM5687 T C . . GENE=CTNNB1;STRAND=+;CDS=c.109T>C;AA=p.S37P;CNT=3 +3 41266113 COSM5679 C G . . GENE=CTNNB1;STRAND=+;CDS=c.110C>G;AA=p.S37C;CNT=15 +3 41266113 COSM5662 C T . . GENE=CTNNB1;STRAND=+;CDS=c.110C>T;AA=p.S37F;CNT=13 +3 41266113 COSM5666 C A . . GENE=CTNNB1;STRAND=+;CDS=c.110C>A;AA=p.S37Y;CNT=3 +3 41266124 COSM5664 A G . . GENE=CTNNB1;STRAND=+;CDS=c.121A>G;AA=p.T41A;CNT=6 +3 41266125 COSM5730 C A . . GENE=CTNNB1;STRAND=+;CDS=c.122C>A;AA=p.T41N;CNT=4 +3 41266125 COSM5676 C T . . GENE=CTNNB1;STRAND=+;CDS=c.122C>T;AA=p.T41I;CNT=1 +3 41266128 COSM217270 C CCAGCTC . . GENE=CTNNB1;STRAND=+;CDS=c.125_126insCAGCTC;AA=p.T42_A43insSS;CNT=2 +3 41266134 COSM251368 C CAGCTCC . . GENE=CTNNB1;STRAND=+;CDS=c.131_132insAGCTCC;AA=p.P44_S45insAP;CNT=1 +3 41266136 COSM5685 T G . . GENE=CTNNB1;STRAND=+;CDS=c.133T>G;AA=p.S45A;CNT=2 +3 41266136 COSM5663 T C . . GENE=CTNNB1;STRAND=+;CDS=c.133T>C;AA=p.S45P;CNT=3 +3 41266137 COSM5667 C T . . GENE=CTNNB1;STRAND=+;CDS=c.134C>T;AA=p.S45F;CNT=7 +3 41266137 COSM5692 C A . . GENE=CTNNB1;STRAND=+;CDS=c.134C>A;AA=p.S45Y;CNT=4 +3 178916849 COSM582518 G T . . GENE=PIK3CA;STRAND=+;CDS=c.236G>T;AA=p.R79M;CNT=1 +3 178916849 COSM582517 G T . . GENE=PIK3CA_ENST00000263967;STRAND=+;CDS=c.236G>T;AA=p.R79M;CNT=1 +3 178916851 COSM163484 G A . . GENE=PIK3CA;STRAND=+;CDS=c.238G>A;AA=p.E80K;CNT=1 +3 178916854 COSM271871 G A . . GENE=PIK3CA_ENST00000263967;STRAND=+;CDS=c.241G>A;AA=p.E81K;CNT=3 +3 178916854 COSM27502 G A . . GENE=PIK3CA;STRAND=+;CDS=c.241G>A;AA=p.E81K;CNT=4 +3 178916861 COSM304777 T A . . GENE=PIK3CA;STRAND=+;CDS=c.248T>A;AA=p.F83Y;CNT=1 +3 178916861 COSM304778 T A . . GENE=PIK3CA_ENST00000263967;STRAND=+;CDS=c.248T>A;AA=p.F83Y;CNT=1 +3 178916876 COSM271684 G A . . GENE=PIK3CA_ENST00000263967;STRAND=+;CDS=c.263G>A;AA=p.R88Q;CNT=10 +3 178916876 COSM746 G A . . GENE=PIK3CA;STRAND=+;CDS=c.263G>A;AA=p.R88Q;CNT=13 +3 178916890 COSM1041455 C T . . GENE=PIK3CA_ENST00000263967;STRAND=+;CDS=c.277C>T;AA=p.R93W;CNT=2 +3 178916890 COSM27493 C T . . GENE=PIK3CA;STRAND=+;CDS=c.277C>T;AA=p.R93W;CNT=2 +3 178916891 COSM86041 G A . . GENE=PIK3CA;STRAND=+;CDS=c.278G>A;AA=p.R93Q;CNT=4 +3 178916891 COSM1041456 G A . . GENE=PIK3CA_ENST00000263967;STRAND=+;CDS=c.278G>A;AA=p.R93Q;CNT=4 +3 178916921 COSM214489 AACCAGTAGG A . . GENE=PIK3CA;STRAND=+;CDS=c.309_317delACCAGTAGG;AA=p.E103_G106>D;CNT=1 +3 178916924 COSM163485 C T . . GENE=PIK3CA;STRAND=+;CDS=c.311C>T;AA=p.P104L;CNT=1 +3 178916928 COSM445993 AGGCAACCGT A . . GENE=PIK3CA;STRAND=+;CDS=c.316_324delGGCAACCGT;AA=p.G106_R108delGNR;CNT=1 +3 178916928 COSM445992 AGGCAACCGT A . . GENE=PIK3CA_ENST00000263967;STRAND=+;CDS=c.316_324delGGCAACCGT;AA=p.G106_R108delGNR;CNT=1 +3 178916929 COSM86046 G C . . GENE=PIK3CA;STRAND=+;CDS=c.316G>C;AA=p.G106R;CNT=1 +3 178916929 COSM271872 G C . . GENE=PIK3CA_ENST00000263967;STRAND=+;CDS=c.316G>C;AA=p.G106R;CNT=1 +3 178916930 COSM748 G T . . GENE=PIK3CA;STRAND=+;CDS=c.317G>T;AA=p.G106V;CNT=1 +3 178916930 COSM729830 G T . . GENE=PIK3CA_ENST00000263967;STRAND=+;CDS=c.317G>T;AA=p.G106V;CNT=1 +3 178916933 COSM1041462 A G . . GENE=PIK3CA;STRAND=+;CDS=c.320A>G;AA=p.N107S;CNT=1 +3 178916933 COSM1041461 A G . . GENE=PIK3CA_ENST00000263967;STRAND=+;CDS=c.320A>G;AA=p.N107S;CNT=1 +3 178916936 COSM342716 G A . . GENE=PIK3CA_ENST00000263967;STRAND=+;CDS=c.323G>A;AA=p.R108H;CNT=4 +3 178916936 COSM729828 G T . . GENE=PIK3CA_ENST00000263967;STRAND=+;CDS=c.323G>T;AA=p.R108L;CNT=1 +3 178916936 COSM729829 G T . . GENE=PIK3CA;STRAND=+;CDS=c.323G>T;AA=p.R108L;CNT=1 +3 178916936 COSM27497 G A . . GENE=PIK3CA;STRAND=+;CDS=c.323G>A;AA=p.R108H;CNT=4 +3 178916943 COSM446000 AAAGATCCTC A . . GENE=PIK3CA;STRAND=+;CDS=c.331_339delAAGATCCTC;AA=p.K111_L113delKIL;CNT=1 +3 178916943 COSM445999 AAAGATCCTC A . . GENE=PIK3CA_ENST00000263967;STRAND=+;CDS=c.331_339delAAGATCCTC;AA=p.K111_L113delKIL;CNT=1 +3 178916944 COSM13570 A G . . GENE=PIK3CA;STRAND=+;CDS=c.331A>G;AA=p.K111E;CNT=5 +3 178916944 COSM1041463 A G . . GENE=PIK3CA_ENST00000263967;STRAND=+;CDS=c.331A>G;AA=p.K111E;CNT=5 +3 178916946 COSM12580 G C . . GENE=PIK3CA;STRAND=+;CDS=c.333G>C;AA=p.K111N;CNT=2 +3 178916946 COSM1041464 G T . . GENE=PIK3CA_ENST00000263967;STRAND=+;CDS=c.333G>T;AA=p.K111N;CNT=2 +3 178916946 COSM582516 G C . . GENE=PIK3CA_ENST00000263967;STRAND=+;CDS=c.333G>C;AA=p.K111N;CNT=1 +3 178916946 COSM27505 G T . . GENE=PIK3CA;STRAND=+;CDS=c.333G>T;AA=p.K111N;CNT=2 +3 178916949 COSM166154 CCTCAAT C . . GENE=PIK3CA;STRAND=+;CDS=c.337_342delCTCAAT;AA=p.L113_N114delLN;CNT=1 +3 178916957 COSM1041467 G T . . GENE=PIK3CA_ENST00000263967;STRAND=+;CDS=c.344G>T;AA=p.R115L;CNT=1 +3 178916957 COSM125368 G T . . GENE=PIK3CA;STRAND=+;CDS=c.344G>T;AA=p.R115L;CNT=2 +3 178921542 COSM582513 A T . . GENE=PIK3CA;STRAND=+;CDS=c.1024A>T;AA=p.T342S;CNT=1 +3 178921542 COSM582512 A T . . GENE=PIK3CA_ENST00000263967;STRAND=+;CDS=c.1024A>T;AA=p.T342S;CNT=1 +3 178921548 COSM253280 G A . . GENE=PIK3CA_ENST00000263967;STRAND=+;CDS=c.1030G>A;AA=p.V344M;CNT=3 +3 178921548 COSM253279 G A . . GENE=PIK3CA;STRAND=+;CDS=c.1030G>A;AA=p.V344M;CNT=3 +3 178921549 COSM86951 T C . . GENE=PIK3CA;STRAND=+;CDS=c.1031T>C;AA=p.V344A;CNT=2 +3 178921549 COSM276750 T C . . GENE=PIK3CA_ENST00000263967;STRAND=+;CDS=c.1031T>C;AA=p.V344A;CNT=2 +3 178921549 COSM258749 T G . . GENE=PIK3CA_ENST00000263967;STRAND=+;CDS=c.1031T>G;AA=p.V344G;CNT=5 +3 178921549 COSM22540 T G . . GENE=PIK3CA;STRAND=+;CDS=c.1031T>G;AA=p.V344G;CNT=5 +3 178921552 COSM94979 A T . . GENE=PIK3CA_ENST00000263967;STRAND=+;CDS=c.1034A>T;AA=p.N345I;CNT=1 +3 178921552 COSM94978 A T . . GENE=PIK3CA;STRAND=+;CDS=c.1034A>T;AA=p.N345I;CNT=1 +3 178921553 COSM132748 T A . . GENE=PIK3CA_ENST00000263967;STRAND=+;CDS=c.1035T>A;AA=p.N345K;CNT=8 +3 178921553 COSM754 T A . . GENE=PIK3CA;STRAND=+;CDS=c.1035T>A;AA=p.N345K;CNT=10 +3 178921566 COSM582510 G A . . GENE=PIK3CA_ENST00000263967;STRAND=+;CDS=c.1048G>A;AA=p.D350N;CNT=2 +3 178921566 COSM582511 G A . . GENE=PIK3CA;STRAND=+;CDS=c.1048G>A;AA=p.D350N;CNT=2 +3 178921567 COSM271786 A G . . GENE=PIK3CA_ENST00000263967;STRAND=+;CDS=c.1049A>G;AA=p.D350G;CNT=2 +3 178921567 COSM271785 A G . . GENE=PIK3CA;STRAND=+;CDS=c.1049A>G;AA=p.D350G;CNT=2 +3 178927974 COSM673907 G A . . GENE=PIK3CA_ENST00000263967;STRAND=+;CDS=c.1252G>A;AA=p.E418K;CNT=1 +3 178927974 COSM12582 G A . . GENE=PIK3CA;STRAND=+;CDS=c.1252G>A;AA=p.E418K;CNT=1 +3 178927977 COSM1220593 C A . . GENE=PIK3CA;STRAND=+;CDS=c.1255C>A;AA=p.H419N;CNT=1 +3 178927977 COSM1220592 C A . . GENE=PIK3CA_ENST00000263967;STRAND=+;CDS=c.1255C>A;AA=p.H419N;CNT=1 +3 178927980 COSM757 T C . . GENE=PIK3CA;STRAND=+;CDS=c.1258T>C;AA=p.C420R;CNT=10 +3 178927980 COSM267862 T C . . GENE=PIK3CA_ENST00000263967;STRAND=+;CDS=c.1258T>C;AA=p.C420R;CNT=7 +3 178928079 COSM12584 G A . . GENE=PIK3CA;STRAND=+;CDS=c.1357G>A;AA=p.E453K;CNT=2 +3 178928079 COSM1041484 G C . . GENE=PIK3CA_ENST00000263967;STRAND=+;CDS=c.1357G>C;AA=p.E453Q;CNT=2 +3 178928079 COSM446007 G A . . GENE=PIK3CA_ENST00000263967;STRAND=+;CDS=c.1357G>A;AA=p.E453K;CNT=2 +3 178928079 COSM758 G C . . GENE=PIK3CA;STRAND=+;CDS=c.1357G>C;AA=p.E453Q;CNT=2 +3 178936070 COSM729821 G A . . GENE=PIK3CA_ENST00000263967;STRAND=+;CDS=c.1612G>A;AA=p.D538N;CNT=1 +3 178936070 COSM21467 G A . . GENE=PIK3CA;STRAND=+;CDS=c.1612G>A;AA=p.D538N;CNT=1 +3 178936074 COSM759 C G . . GENE=PIK3CA;STRAND=+;CDS=c.1616C>G;AA=p.P539R;CNT=1 +3 178936074 COSM446010 C G . . GENE=PIK3CA_ENST00000263967;STRAND=+;CDS=c.1616C>G;AA=p.P539R;CNT=1 +3 178936082 COSM17442 G C . . GENE=PIK3CA;STRAND=+;CDS=c.1624G>C;AA=p.E542Q;CNT=2 +3 178936082 COSM326157 G C . . GENE=PIK3CA_ENST00000263967;STRAND=+;CDS=c.1624G>C;AA=p.E542Q;CNT=2 +3 178936082 COSM760 G A . . GENE=PIK3CA;STRAND=+;CDS=c.1624G>A;AA=p.E542K;CNT=29 +3 178936082 COSM125369 G A . . GENE=PIK3CA_ENST00000263967;STRAND=+;CDS=c.1624G>A;AA=p.E542K;CNT=25 +3 178936083 COSM1041494 A C . . GENE=PIK3CA_ENST00000263967;STRAND=+;CDS=c.1625A>C;AA=p.E542A;CNT=2 +3 178936083 COSM1041495 A C . . GENE=PIK3CA;STRAND=+;CDS=c.1625A>C;AA=p.E542A;CNT=2 +3 178936091 COSM295672 G C . . GENE=PIK3CA_ENST00000263967;STRAND=+;CDS=c.1633G>C;AA=p.E545Q;CNT=1 +3 178936091 COSM763 G A . . GENE=PIK3CA;STRAND=+;CDS=c.1633G>A;AA=p.E545K;CNT=61 +3 178936091 COSM125370 G A . . GENE=PIK3CA_ENST00000263967;STRAND=+;CDS=c.1633G>A;AA=p.E545K;CNT=51 +3 178936091 COSM27133 G C . . GENE=PIK3CA;STRAND=+;CDS=c.1633G>C;AA=p.E545Q;CNT=1 +3 178936092 COSM764 A G . . GENE=PIK3CA;STRAND=+;CDS=c.1634A>G;AA=p.E545G;CNT=5 +3 178936092 COSM297145 A C . . GENE=PIK3CA_ENST00000263967;STRAND=+;CDS=c.1634A>C;AA=p.E545A;CNT=3 +3 178936092 COSM125371 A G . . GENE=PIK3CA_ENST00000263967;STRAND=+;CDS=c.1634A>G;AA=p.E545G;CNT=5 +3 178936092 COSM12458 A C . . GENE=PIK3CA;STRAND=+;CDS=c.1634A>C;AA=p.E545A;CNT=4 +3 178936093 COSM765 G T . . GENE=PIK3CA;STRAND=+;CDS=c.1635G>T;AA=p.E545D;CNT=2 +3 178936093 COSM327064 G T . . GENE=PIK3CA_ENST00000263967;STRAND=+;CDS=c.1635G>T;AA=p.E545D;CNT=2 +3 178936093 COSM27374 G C . . GENE=PIK3CA;STRAND=+;CDS=c.1635G>C;AA=p.E545D;CNT=1 +3 178936094 COSM255876 C A . . GENE=PIK3CA_ENST00000263967;STRAND=+;CDS=c.1636C>A;AA=p.Q546K;CNT=7 +3 178936094 COSM766 C A . . GENE=PIK3CA;STRAND=+;CDS=c.1636C>A;AA=p.Q546K;CNT=9 +3 178936095 COSM12459 A G . . GENE=PIK3CA;STRAND=+;CDS=c.1637A>G;AA=p.Q546R;CNT=4 +3 178936095 COSM446012 A G . . GENE=PIK3CA_ENST00000263967;STRAND=+;CDS=c.1637A>G;AA=p.Q546R;CNT=4 +3 178936095 COSM767 A C . . GENE=PIK3CA;STRAND=+;CDS=c.1637A>C;AA=p.Q546P;CNT=4 +3 178936095 COSM1041496 A C . . GENE=PIK3CA_ENST00000263967;STRAND=+;CDS=c.1637A>C;AA=p.Q546P;CNT=3 +3 178936099 COSM729820 G C . . GENE=PIK3CA;STRAND=+;CDS=c.1641G>C;AA=p.E547D;CNT=1 +3 178936099 COSM729819 G C . . GENE=PIK3CA_ENST00000263967;STRAND=+;CDS=c.1641G>C;AA=p.E547D;CNT=1 +3 178938853 COSM397233 T A . . GENE=PIK3CA;STRAND=+;CDS=c.2095T>A;AA=p.L699M;CNT=1 +3 178938853 COSM397232 T A . . GENE=PIK3CA_ENST00000263967;STRAND=+;CDS=c.2095T>A;AA=p.L699M;CNT=1 +3 178938922 COSM1192506 G A . . GENE=PIK3CA;STRAND=+;CDS=c.2164G>A;AA=p.E722K;CNT=1 +3 178938931 COSM1041506 G A . . GENE=PIK3CA;STRAND=+;CDS=c.2173G>A;AA=p.D725N;CNT=1 +3 178938931 COSM1041505 G A . . GENE=PIK3CA_ENST00000263967;STRAND=+;CDS=c.2173G>A;AA=p.D725N;CNT=1 +3 178938934 COSM446019 G A . . GENE=PIK3CA_ENST00000263967;STRAND=+;CDS=c.2176G>A;AA=p.E726K;CNT=3 +3 178938934 COSM87306 G A . . GENE=PIK3CA;STRAND=+;CDS=c.2176G>A;AA=p.E726K;CNT=3 +3 178951903 COSM1220591 G T . . GENE=PIK3CA_ENST00000263967;STRAND=+;CDS=c.2958G>T;AA=p.K986N;CNT=1 +3 178951903 COSM87305 G T . . GENE=PIK3CA;STRAND=+;CDS=c.2958G>T;AA=p.K986N;CNT=1 +3 178951920 COSM1041514 G C . . GENE=PIK3CA_ENST00000263967;STRAND=+;CDS=c.2975G>C;AA=p.R992P;CNT=1 +3 178951920 COSM1041515 G C . . GENE=PIK3CA;STRAND=+;CDS=c.2975G>C;AA=p.R992P;CNT=1 +3 178951964 COSM94982 G C . . GENE=PIK3CA_ENST00000263967;STRAND=+;CDS=c.3019G>C;AA=p.G1007R;CNT=1 +3 178951964 COSM17443 G C . . GENE=PIK3CA;STRAND=+;CDS=c.3019G>C;AA=p.G1007R;CNT=1 +3 178951994 COSM304026 G C . . GENE=PIK3CA_ENST00000263967;STRAND=+;CDS=c.3049G>C;AA=p.D1017H;CNT=1 +3 178951994 COSM27377 G C . . GENE=PIK3CA;STRAND=+;CDS=c.3049G>C;AA=p.D1017H;CNT=1 +3 178952006 COSM17444 T C . . GENE=PIK3CA;STRAND=+;CDS=c.3061T>C;AA=p.Y1021H;CNT=1 +3 178952006 COSM246589 T C . . GENE=PIK3CA_ENST00000263967;STRAND=+;CDS=c.3061T>C;AA=p.Y1021H;CNT=1 +3 178952007 COSM12461 A G . . GENE=PIK3CA;STRAND=+;CDS=c.3062A>G;AA=p.Y1021C;CNT=2 +3 178952007 COSM276755 A G . . GENE=PIK3CA_ENST00000263967;STRAND=+;CDS=c.3062A>G;AA=p.Y1021C;CNT=2 +3 178952018 COSM1041519 A G . . GENE=PIK3CA_ENST00000263967;STRAND=+;CDS=c.3073A>G;AA=p.T1025A;CNT=2 +3 178952018 COSM771 A G . . GENE=PIK3CA;STRAND=+;CDS=c.3073A>G;AA=p.T1025A;CNT=2 +3 178952024 COSM142978 GCC GTT . . GENE=PIK3CA_ENST00000263967;STRAND=+;CDS=c.3080_3081CC>TT;AA=p.A1027V;CNT=1 +3 178952024 COSM142977 GCC GTT . . GENE=PIK3CA;STRAND=+;CDS=c.3080_3081CC>TT;AA=p.A1027V;CNT=1 +3 178952064 COSM163486 T C . . GENE=PIK3CA;STRAND=+;CDS=c.3119T>C;AA=p.M1040T;CNT=1 +3 178952072 COSM94983 A G . . GENE=PIK3CA_ENST00000263967;STRAND=+;CDS=c.3127A>G;AA=p.M1043V;CNT=3 +3 178952072 COSM12591 A G . . GENE=PIK3CA;STRAND=+;CDS=c.3127A>G;AA=p.M1043V;CNT=4 +3 178952074 COSM419700 G T . . GENE=PIK3CA_ENST00000263967;STRAND=+;CDS=c.3129G>T;AA=p.M1043I;CNT=1 +3 178952074 COSM29313 G A . . GENE=PIK3CA;STRAND=+;CDS=c.3129G>A;AA=p.M1043I;CNT=4 +3 178952074 COSM773 G T . . GENE=PIK3CA;STRAND=+;CDS=c.3129G>T;AA=p.M1043I;CNT=2 +3 178952074 COSM446027 G A . . GENE=PIK3CA_ENST00000263967;STRAND=+;CDS=c.3129G>A;AA=p.M1043I;CNT=4 +3 178952077 COSM12592 T A . . GENE=PIK3CA;STRAND=+;CDS=c.3132T>A;AA=p.N1044K;CNT=2 +3 178952077 COSM479741 T A . . GENE=PIK3CA_ENST00000263967;STRAND=+;CDS=c.3132T>A;AA=p.N1044K;CNT=2 +3 178952077 COSM1041522 T G . . GENE=PIK3CA_ENST00000263967;STRAND=+;CDS=c.3132T>G;AA=p.N1044K;CNT=2 +3 178952077 COSM27504 T G . . GENE=PIK3CA;STRAND=+;CDS=c.3132T>G;AA=p.N1044K;CNT=2 +3 178952079 COSM729814 A T . . GENE=PIK3CA;STRAND=+;CDS=c.3134A>T;AA=p.D1045V;CNT=1 +3 178952079 COSM729813 A T . . GENE=PIK3CA_ENST00000263967;STRAND=+;CDS=c.3134A>T;AA=p.D1045V;CNT=1 +3 178952084 COSM1041523 C T . . GENE=PIK3CA_ENST00000263967;STRAND=+;CDS=c.3139C>T;AA=p.H1047Y;CNT=2 +3 178952084 COSM774 C T . . GENE=PIK3CA;STRAND=+;CDS=c.3139C>T;AA=p.H1047Y;CNT=2 +3 178952085 COSM775 A G . . GENE=PIK3CA;STRAND=+;CDS=c.3140A>G;AA=p.H1047R;CNT=58 +3 178952085 COSM94986 A G . . GENE=PIK3CA_ENST00000263967;STRAND=+;CDS=c.3140A>G;AA=p.H1047R;CNT=31 +3 178952085 COSM776 A T . . GENE=PIK3CA;STRAND=+;CDS=c.3140A>T;AA=p.H1047L;CNT=13 +3 178952085 COSM94987 A T . . GENE=PIK3CA_ENST00000263967;STRAND=+;CDS=c.3140A>T;AA=p.H1047L;CNT=11 +3 178952088 COSM36289 A G . . GENE=PIK3CA;STRAND=+;CDS=c.3143A>G;AA=p.H1048R;CNT=2 +3 178952088 COSM479742 A G . . GENE=PIK3CA_ENST00000263967;STRAND=+;CDS=c.3143A>G;AA=p.H1048R;CNT=2 +3 178952090 COSM446029 G C . . GENE=PIK3CA_ENST00000263967;STRAND=+;CDS=c.3145G>C;AA=p.G1049R;CNT=2 +3 178952090 COSM12597 G C . . GENE=PIK3CA;STRAND=+;CDS=c.3145G>C;AA=p.G1049R;CNT=3 +3 178952100 COSM1220594 C A . . GENE=PIK3CA_ENST00000263967;STRAND=+;CDS=c.3155C>A;AA=p.T1052K;CNT=1 +3 178952100 COSM17447 C A . . GENE=PIK3CA;STRAND=+;CDS=c.3155C>A;AA=p.T1052K;CNT=2 +3 178952117 COSM1177854 A T . . GENE=PIK3CA_ENST00000263967;STRAND=+;CDS=c.3172A>T;AA=p.I1058F;CNT=1 +3 178952117 COSM30606 A T . . GENE=PIK3CA;STRAND=+;CDS=c.3172A>T;AA=p.I1058F;CNT=1 +3 178952117 COSM479744 A C . . GENE=PIK3CA;STRAND=+;CDS=c.3172A>C;AA=p.I1058L;CNT=1 +3 178952117 COSM479743 A C . . GENE=PIK3CA_ENST00000263967;STRAND=+;CDS=c.3172A>C;AA=p.I1058L;CNT=1 +3 178952152 COSM17449 A G . . GENE=PIK3CA;STRAND=+;CDS=c.3207A>G;AA=p.*1069_*1069insWKDN*;CNT=1 +3 178952152 COSM1177856 A G . . GENE=PIK3CA_ENST00000263967;STRAND=+;CDS=c.3207A>G;AA=p.*1069W;CNT=1 +4 1803564 COSM1133721 C T . . GENE=FGFR3_ENST00000340107;STRAND=+;CDS=c.742C>T;AA=p.R248C;CNT=2 +4 1803564 COSM714 C T . . GENE=FGFR3;STRAND=+;CDS=c.742C>T;AA=p.R248C;CNT=2 +4 1803568 COSM1149892 C G . . GENE=FGFR3_ENST00000340107;STRAND=+;CDS=c.746C>G;AA=p.S249C;CNT=2 +4 1803568 COSM715 C G . . GENE=FGFR3;STRAND=+;CDS=c.746C>G;AA=p.S249C;CNT=2 +4 1803615 COSM107802 G A . . GENE=FGFR3;STRAND=+;CDS=c.793G>A;AA=p.A265T;CNT=1 +4 1803633 COSM1143544 G A . . GENE=FGFR3_ENST00000340107;STRAND=+;CDS=c.811G>A;AA=p.V271M;CNT=1 +4 1803633 COSM586608 G A . . GENE=FGFR3;STRAND=+;CDS=c.811G>A;AA=p.V271M;CNT=1 +4 1803640 COSM330456 T G . . GENE=FGFR3;STRAND=+;CDS=c.818T>G;AA=p.F273C;CNT=1 +4 1803661 COSM396078 A G . . GENE=FGFR3;STRAND=+;CDS=c.839A>G;AA=p.D280G;CNT=1 +4 1806119 COSM1133722 G A . . GENE=FGFR3_ENST00000340107;STRAND=+;CDS=c.1144G>A;AA=p.G382R;CNT=1 +4 1806119 COSM24842 G A . . GENE=FGFR3;STRAND=+;CDS=c.1138G>A;AA=p.G380R;CNT=1 +4 1806139 COSM123166 C G . . GENE=FGFR3;STRAND=+;CDS=c.1158C>G;AA=p.F386L;CNT=1 +4 1806176 COSM296687 C T . . GENE=FGFR3;STRAND=+;CDS=c.1195C>T;AA=p.R399C;CNT=1 +4 1806177 COSM340691 G A . . GENE=FGFR3;STRAND=+;CDS=c.1196G>A;AA=p.R399H;CNT=1 +4 1806227 COSM1143545 C A . . GENE=FGFR3_ENST00000340107;STRAND=+;CDS=c.1252C>A;AA=p.R418S;CNT=1 +4 1806227 COSM586607 C A . . GENE=FGFR3;STRAND=+;CDS=c.1246C>A;AA=p.R416S;CNT=1 +4 1807850 COSM481085 G T . . GENE=FGFR3;STRAND=+;CDS=c.1909G>T;AA=p.G637W;CNT=1 +4 1807850 COSM1137162 G T . . GENE=FGFR3_ENST00000340107;STRAND=+;CDS=c.1915G>T;AA=p.G639W;CNT=1 +4 1808386 COSM732992 A T . . GENE=FGFR3;STRAND=+;CDS=c.2144A>T;AA=p.K715M;CNT=1 +4 1808386 COSM1149893 A T . . GENE=FGFR3_ENST00000340107;STRAND=+;CDS=c.2150A>T;AA=p.K717M;CNT=1 +4 1808923 COSM1207091 C T . . GENE=FGFR3;STRAND=+;CDS=c.2355C>T;AA=p.D785D;CNT=1 +4 1808923 COSM1207090 C T . . GENE=FGFR3_ENST00000340107;STRAND=+;CDS=c.2361C>T;AA=p.D787D;CNT=1 +4 1808929 COSM1053512 C T . . GENE=FGFR3;STRAND=+;CDS=c.2361C>T;AA=p.S787S;CNT=1 +4 1808929 COSM1154329 C T . . GENE=FGFR3_ENST00000340107;STRAND=+;CDS=c.2367C>T;AA=p.S789S;CNT=1 +4 55141011 COSM335666 C G . . GENE=PDGFRA;STRAND=+;CDS=c.1657C>G;AA=p.P553A;CNT=1 +4 55141030 COSM345640 G T . . GENE=PDGFRA;STRAND=+;CDS=c.1676G>T;AA=p.W559L;CNT=1 +4 55141034 COSM298491 G A . . GENE=PDGFRA;STRAND=+;CDS=c.1680G>A;AA=p.R560R;CNT=1 +4 55141054 COSM191854 C T . . GENE=PDGFRA;STRAND=+;CDS=c.1700C>T;AA=p.P567L;CNT=1 +4 55141131 COSM734176 C A . . GENE=PDGFRA;STRAND=+;CDS=c.1777C>A;AA=p.L593I;CNT=1 +4 55144560 COSM257700 C A . . GENE=PDGFRA;STRAND=+;CDS=c.2034C>A;AA=p.F678L;CNT=1 +4 55144636 COSM191855 G T . . GENE=PDGFRA;STRAND=+;CDS=c.2110G>T;AA=p.E704*;CNT=1 +4 55144647 COSM80320 C A . . GENE=PDGFRA;STRAND=+;CDS=c.2121C>A;AA=p.I707I;CNT=1 +4 55152023 COSM217313 C A . . GENE=PDGFRA;STRAND=+;CDS=c.2455C>A;AA=p.L819M;CNT=2 +4 55152040 COSM22413 C T . . GENE=PDGFRA;STRAND=+;CDS=c.2472C>T;AA=p.V824V;CNT=1 +4 55152076 COSM734175 C G . . GENE=PDGFRA;STRAND=+;CDS=c.2508C>G;AA=p.D836E;CNT=1 +4 55152081 COSM378406 G T . . GENE=PDGFRA;STRAND=+;CDS=c.2513G>T;AA=p.G838V;CNT=1 +4 55152085 COSM587613 G T . . GENE=PDGFRA;STRAND=+;CDS=c.2517G>T;AA=p.L839L;CNT=1 +4 55152092 COSM734174 G C . . GENE=PDGFRA;STRAND=+;CDS=c.2524G>C;AA=p.D842H;CNT=1 +4 55561755 COSM1212554 C T . . GENE=KIT;STRAND=+;CDS=c.145C>T;AA=p.R49C;CNT=1 +4 55561756 COSM351040 G C . . GENE=KIT;STRAND=+;CDS=c.146G>C;AA=p.R49P;CNT=1 +4 55561758 COSM42898 G A . . GENE=KIT;STRAND=+;CDS=c.148G>A;AA=p.V50M;CNT=1 +4 55561763 COSM19025 C T . . GENE=KIT;STRAND=+;CDS=c.153C>T;AA=p.G51G;CNT=1 +4 55561765 COSM1212556 A G . . GENE=KIT;STRAND=+;CDS=c.155A>G;AA=p.D52G;CNT=1 +4 55561832 COSM167171 G A . . GENE=KIT;STRAND=+;CDS=c.222G>A;AA=p.T74T;CNT=1 +4 55561886 COSM295951 C T . . GENE=KIT;STRAND=+;CDS=c.276C>T;AA=p.T92T;CNT=1 +4 55592169 COSM192027 G A . . GENE=KIT;STRAND=+;CDS=c.1493G>A;AA=p.G498D;CNT=1 +4 55593452 COSM587606 T A . . GENE=KIT;STRAND=+;CDS=c.1609T>A;AA=p.C537S;CNT=2 +4 55593464 COSM28026 A C . . GENE=KIT;STRAND=+;CDS=c.1621A>C;AA=p.M541L;CNT=1 +4 55593588 COSM734168 A T . . GENE=KIT;STRAND=+;CDS=c.1654A>T;AA=p.M552L;CNT=1 +4 55593614 COSM734167 T A . . GENE=KIT;STRAND=+;CDS=c.1680T>A;AA=p.V560V;CNT=1 +4 55593639 COSM231534 GTTTACATAGACCCAACACAAC G . . GENE=KIT;STRAND=+;CDS=c.1706_1726del21;AA=p.Y570_L576delYIDPTQL;CNT=2 +4 55593644 COSM79375 C A . . GENE=KIT;STRAND=+;CDS=c.1710C>A;AA=p.Y570*;CNT=1 +4 55595518 COSM402445 A T . . GENE=KIT;STRAND=+;CDS=c.2008A>T;AA=p.T670S;CNT=1 +4 55595554 COSM240420 TT T . . GENE=KIT;STRAND=+;CDS=c.2045delT;AA=p.L682fs*1;CNT=1 +4 55595621 COSM1235167 A C . . GENE=KIT;STRAND=+;CDS=c.2111A>C;AA=p.K704T;CNT=1 +4 55597568 COSM1056106 G A . . GENE=KIT;STRAND=+;CDS=c.2216G>A;AA=p.R739K;CNT=1 +4 55599316 COSM171931 C T . . GENE=KIT;STRAND=+;CDS=c.2442C>T;AA=p.A814A;CNT=1 +4 55599352 COSM734165 A C . . GENE=KIT;STRAND=+;CDS=c.2478A>C;AA=p.K826N;CNT=1 +4 55599366 COSM734164 C G . . GENE=KIT;STRAND=+;CDS=c.2484+8C>G;AA=p.?;CNT=1 +4 55602676 COSM145558 G C . . GENE=KIT;STRAND=+;CDS=c.2497G>C;AA=p.V833L;CNT=1 +4 55602678 COSM175162 G T . . GENE=KIT;STRAND=+;CDS=c.2499G>T;AA=p.V833V;CNT=1 +4 55602719 COSM1212555 C T . . GENE=KIT;STRAND=+;CDS=c.2540C>T;AA=p.T847M;CNT=1 +4 55602747 COSM1056111 G T . . GENE=KIT;STRAND=+;CDS=c.2568G>T;AA=p.G856G;CNT=1 +4 55602765 COSM1325 G C . . GENE=KIT;STRAND=+;CDS=c.2586G>C;AA=p.L862L;CNT=1 +4 55602777 COSM1056112 T G . . GENE=KIT;STRAND=+;CDS=c.2596+2T>G;AA=p.?;CNT=1 +4 55946163 COSM587602 G T . . GENE=KDR;STRAND=-;CDS=c.4016C>A;AA=p.T1339K;CNT=1 +4 55946237 COSM128305 T A . . GENE=KDR;STRAND=-;CDS=c.3942A>T;AA=p.T1314T;CNT=1 +4 55953823 COSM734156 C A . . GENE=KDR;STRAND=-;CDS=c.3613G>T;AA=p.E1205*;CNT=1 +4 55953823 COSM384448 C T . . GENE=KDR;STRAND=-;CDS=c.3613G>A;AA=p.E1205K;CNT=1 +4 55953837 COSM447954 G T . . GENE=KDR;STRAND=-;CDS=c.3599C>A;AA=p.S1200Y;CNT=1 +4 55961023 COSM48464 C A . . GENE=KDR;STRAND=-;CDS=c.2917G>T;AA=p.A973S;CNT=2 +4 55961059 COSM213169 G A . . GENE=KDR;STRAND=-;CDS=c.2881C>T;AA=p.R961W;CNT=1 +4 55961077 COSM420569 T A . . GENE=KDR;STRAND=-;CDS=c.2863A>T;AA=p.I955F;CNT=1 +4 55961097 COSM138433 C T . . GENE=KDR;STRAND=-;CDS=c.2843G>A;AA=p.G948E;CNT=1 +4 55961098 COSM337898 C A . . GENE=KDR;STRAND=-;CDS=c.2842G>T;AA=p.G948W;CNT=1 +4 55961105 COSM420568 G A . . GENE=KDR;STRAND=-;CDS=c.2835C>T;AA=p.F945F;CNT=1 +4 55961110 COSM734153 G T . . GENE=KDR;STRAND=-;CDS=c.2830C>A;AA=p.R944R;CNT=1 +4 55962494 COSM734151 C A . . GENE=KDR;STRAND=-;CDS=c.2630G>T;AA=p.S877I;CNT=1 +4 55972974 COSM149673 T A . . GENE=KDR;STRAND=-;CDS=c.1416A>T;AA=p.Q472H;CNT=1 +4 55972980 COSM734142 A T . . GENE=KDR;STRAND=-;CDS=c.1413-3T>A;AA=p.?;CNT=1 +4 55979624 COSM734138 G A . . GENE=KDR;STRAND=-;CDS=c.823C>T;AA=p.R275*;CNT=1 +4 55979642 COSM447957 G A . . GENE=KDR;STRAND=-;CDS=c.805C>T;AA=p.H269Y;CNT=1 +4 55979649 COSM587581 C A . . GENE=KDR;STRAND=-;CDS=c.799-1G>T;AA=p.?;CNT=2 +4 153245430 COSM1137143 C T . . GENE=FBXW7_ENST00000296555;STRAND=-;CDS=c.1407G>A;AA=p.M469I;CNT=1 +4 153245430 COSM480955 C T . . GENE=FBXW7;STRAND=-;CDS=c.1761G>A;AA=p.M587I;CNT=1 +4 153245430 COSM480958 C T . . GENE=FBXW7_ENST00000534231;STRAND=-;CDS=c.1044G>A;AA=p.M348I;CNT=1 +4 153245430 COSM480956 C T . . GENE=FBXW7_ENST00000281708;STRAND=-;CDS=c.1761G>A;AA=p.M587I;CNT=1 +4 153245430 COSM480957 C T . . GENE=FBXW7_NM_018315_2;STRAND=-;CDS=c.1521G>A;AA=p.M507I;CNT=1 +4 153245437 COSM732389 C G . . GENE=FBXW7_NM_018315_2;STRAND=-;CDS=c.1514G>C;AA=p.S505T;CNT=1 +4 153245437 COSM732388 C G . . GENE=FBXW7_ENST00000281708;STRAND=-;CDS=c.1754G>C;AA=p.S585T;CNT=1 +4 153245437 COSM1149851 C G . . GENE=FBXW7_ENST00000296555;STRAND=-;CDS=c.1400G>C;AA=p.S467T;CNT=1 +4 153245437 COSM732390 C G . . GENE=FBXW7_ENST00000534231;STRAND=-;CDS=c.1037G>C;AA=p.S346T;CNT=1 +4 153245437 COSM732387 C G . . GENE=FBXW7;STRAND=-;CDS=c.1754G>C;AA=p.S585T;CNT=1 +4 153245446 COSM295017 G A . . GENE=FBXW7_ENST00000534231;STRAND=-;CDS=c.1028C>T;AA=p.S343L;CNT=4 +4 153245446 COSM1206897 G A . . GENE=FBXW7_ENST00000296555;STRAND=-;CDS=c.1391C>T;AA=p.S464L;CNT=2 +4 153245446 COSM295016 G A . . GENE=FBXW7_NM_018315_2;STRAND=-;CDS=c.1505C>T;AA=p.S502L;CNT=4 +4 153245446 COSM22979 G A . . GENE=FBXW7;STRAND=-;CDS=c.1745C>T;AA=p.S582L;CNT=4 +4 153245446 COSM295018 G A . . GENE=FBXW7_ENST00000281708;STRAND=-;CDS=c.1745C>T;AA=p.S582L;CNT=4 +4 153245450 COSM206691 G A . . GENE=FBXW7_ENST00000281708;STRAND=-;CDS=c.1741C>T;AA=p.Q581*;CNT=1 +4 153245450 COSM206689 G A . . GENE=FBXW7;STRAND=-;CDS=c.1741C>T;AA=p.Q581*;CNT=1 +4 153245450 COSM206688 G A . . GENE=FBXW7_NM_018315_2;STRAND=-;CDS=c.1501C>T;AA=p.Q501*;CNT=1 +4 153245450 COSM206690 G A . . GENE=FBXW7_ENST00000534231;STRAND=-;CDS=c.1024C>T;AA=p.Q342*;CNT=1 +4 153245485 COSM336213 TCC TAA . . GENE=FBXW7_ENST00000534231;STRAND=-;CDS=c.987_988GG>TT;AA=p.V329>?;CNT=1 +4 153245485 COSM336212 TCC TAA . . GENE=FBXW7_NM_018315_2;STRAND=-;CDS=c.1464_1465GG>TT;AA=p.V488>?;CNT=1 +4 153245485 COSM336211 TCC TAA . . GENE=FBXW7_ENST00000281708;STRAND=-;CDS=c.1704_1705GG>TT;AA=p.V568>?;CNT=1 +4 153245485 COSM336210 TCC TAA . . GENE=FBXW7;STRAND=-;CDS=c.1704_1705GG>TT;AA=p.V568>?;CNT=1 +4 153245503 COSM84873 A G . . GENE=FBXW7_NM_018315_2;STRAND=-;CDS=c.1448T>C;AA=p.I483T;CNT=1 +4 153245503 COSM84874 A G . . GENE=FBXW7;STRAND=-;CDS=c.1688T>C;AA=p.I563T;CNT=1 +4 153245506 COSM222959 G A . . GENE=FBXW7_ENST00000281708;STRAND=-;CDS=c.1685C>T;AA=p.S562L;CNT=1 +4 153245506 COSM222957 G A . . GENE=FBXW7;STRAND=-;CDS=c.1685C>T;AA=p.S562L;CNT=1 +4 153245506 COSM222956 G A . . GENE=FBXW7_NM_018315_2;STRAND=-;CDS=c.1445C>T;AA=p.S482L;CNT=1 +4 153245506 COSM222958 G A . . GENE=FBXW7_ENST00000534231;STRAND=-;CDS=c.968C>T;AA=p.S323L;CNT=1 +4 153245512 COSM1206898 T C . . GENE=FBXW7;STRAND=-;CDS=c.1679A>G;AA=p.D560G;CNT=1 +4 153245512 COSM1206901 T C . . GENE=FBXW7_ENST00000296555;STRAND=-;CDS=c.1325A>G;AA=p.D442G;CNT=1 +4 153245512 COSM1206899 T C . . GENE=FBXW7_ENST00000281708;STRAND=-;CDS=c.1679A>G;AA=p.D560G;CNT=1 +4 153245512 COSM1206902 T C . . GENE=FBXW7_ENST00000534231;STRAND=-;CDS=c.962A>G;AA=p.D321G;CNT=1 +4 153245512 COSM1206900 T C . . GENE=FBXW7_NM_018315_2;STRAND=-;CDS=c.1439A>G;AA=p.D480G;CNT=1 +4 153247252 COSM732385 C T . . GENE=FBXW7_NM_018315_2;STRAND=-;CDS=c.1310G>A;AA=p.G437E;CNT=1 +4 153247252 COSM732384 C T . . GENE=FBXW7_ENST00000281708;STRAND=-;CDS=c.1550G>A;AA=p.G517E;CNT=1 +4 153247252 COSM732386 C T . . GENE=FBXW7_ENST00000534231;STRAND=-;CDS=c.833G>A;AA=p.G278E;CNT=1 +4 153247252 COSM1149852 C T . . GENE=FBXW7_ENST00000296555;STRAND=-;CDS=c.1196G>A;AA=p.G399E;CNT=1 +4 153247252 COSM732383 C T . . GENE=FBXW7;STRAND=-;CDS=c.1550G>A;AA=p.G517E;CNT=1 +4 153247262 COSM305939 C A . . GENE=FBXW7;STRAND=-;CDS=c.1540G>T;AA=p.V514F;CNT=1 +4 153247262 COSM305941 C A . . GENE=FBXW7_ENST00000281708;STRAND=-;CDS=c.1540G>T;AA=p.V514F;CNT=1 +4 153247262 COSM305940 C A . . GENE=FBXW7_ENST00000534231;STRAND=-;CDS=c.823G>T;AA=p.V275F;CNT=1 +4 153247262 COSM305938 C A . . GENE=FBXW7_NM_018315_2;STRAND=-;CDS=c.1300G>T;AA=p.V434F;CNT=1 +4 153247288 COSM133117 C T . . GENE=FBXW7;STRAND=-;CDS=c.1514G>A;AA=p.R505H;CNT=1 +4 153247288 COSM287372 C T . . GENE=FBXW7_NM_018315_2;STRAND=-;CDS=c.1274G>A;AA=p.R425H;CNT=1 +4 153247288 COSM287373 C T . . GENE=FBXW7_ENST00000534231;STRAND=-;CDS=c.797G>A;AA=p.R266H;CNT=1 +4 153247288 COSM287374 C T . . GENE=FBXW7_ENST00000281708;STRAND=-;CDS=c.1514G>A;AA=p.R505H;CNT=1 +4 153247289 COSM22975 G A . . GENE=FBXW7;STRAND=-;CDS=c.1513C>T;AA=p.R505C;CNT=13 +4 153247289 COSM108571 G A . . GENE=FBXW7_ENST00000534231;STRAND=-;CDS=c.796C>T;AA=p.R266C;CNT=12 +4 153247289 COSM732380 G T . . GENE=FBXW7_ENST00000281708;STRAND=-;CDS=c.1513C>A;AA=p.R505S;CNT=1 +4 153247289 COSM732381 G T . . GENE=FBXW7_NM_018315_2;STRAND=-;CDS=c.1273C>A;AA=p.R425S;CNT=1 +4 153247289 COSM1149853 G T . . GENE=FBXW7_ENST00000296555;STRAND=-;CDS=c.1159C>A;AA=p.R387S;CNT=1 +4 153247289 COSM74637 G A . . GENE=FBXW7_NM_018315_2;STRAND=-;CDS=c.1273C>T;AA=p.R425C;CNT=13 +4 153247289 COSM1133711 G C . . GENE=FBXW7_ENST00000296555;STRAND=-;CDS=c.1159C>G;AA=p.R387G;CNT=6 +4 153247289 COSM99606 G C . . GENE=FBXW7_ENST00000281708;STRAND=-;CDS=c.1513C>G;AA=p.R505G;CNT=8 +4 153247289 COSM108572 G A . . GENE=FBXW7_ENST00000281708;STRAND=-;CDS=c.1513C>T;AA=p.R505C;CNT=12 +4 153247289 COSM33763 G T . . GENE=FBXW7;STRAND=-;CDS=c.1513C>A;AA=p.R505S;CNT=1 +4 153247289 COSM1154290 G A . . GENE=FBXW7_ENST00000296555;STRAND=-;CDS=c.1159C>T;AA=p.R387C;CNT=7 +4 153247289 COSM99605 G C . . GENE=FBXW7_ENST00000534231;STRAND=-;CDS=c.796C>G;AA=p.R266G;CNT=8 +4 153247289 COSM99604 G C . . GENE=FBXW7;STRAND=-;CDS=c.1513C>G;AA=p.R505G;CNT=8 +4 153247289 COSM99603 G C . . GENE=FBXW7_NM_018315_2;STRAND=-;CDS=c.1273C>G;AA=p.R425G;CNT=8 +4 153247289 COSM732382 G T . . GENE=FBXW7_ENST00000534231;STRAND=-;CDS=c.796C>A;AA=p.R266S;CNT=1 +4 153247318 COSM172395 T G . . GENE=FBXW7_ENST00000534231;STRAND=-;CDS=c.767A>C;AA=p.H256P;CNT=1 +4 153247318 COSM172394 T G . . GENE=FBXW7;STRAND=-;CDS=c.1484A>C;AA=p.H495P;CNT=1 +4 153247318 COSM172396 T G . . GENE=FBXW7_ENST00000281708;STRAND=-;CDS=c.1484A>C;AA=p.H495P;CNT=1 +4 153247318 COSM172393 T G . . GENE=FBXW7_NM_018315_2;STRAND=-;CDS=c.1244A>C;AA=p.H415P;CNT=1 +4 153247350 COSM123133 C A . . GENE=FBXW7_NM_018315_2;STRAND=-;CDS=c.1212G>T;AA=p.R404S;CNT=1 +4 153247350 COSM123134 C A . . GENE=FBXW7_ENST00000281708;STRAND=-;CDS=c.1452G>T;AA=p.R484S;CNT=1 +4 153247350 COSM123135 C A . . GENE=FBXW7_ENST00000534231;STRAND=-;CDS=c.735G>T;AA=p.R245S;CNT=1 +4 153247350 COSM123132 C A . . GENE=FBXW7;STRAND=-;CDS=c.1452G>T;AA=p.R484S;CNT=1 +4 153247366 COSM420171 C G . . GENE=FBXW7_NM_018315_2;STRAND=-;CDS=c.1196G>C;AA=p.R399P;CNT=1 +4 153247366 COSM420169 C G . . GENE=FBXW7;STRAND=-;CDS=c.1436G>C;AA=p.R479P;CNT=1 +4 153247366 COSM1133712 C G . . GENE=FBXW7_ENST00000296555;STRAND=-;CDS=c.1082G>C;AA=p.R361P;CNT=1 +4 153247366 COSM447498 C T . . GENE=FBXW7_ENST00000281708;STRAND=-;CDS=c.1436G>A;AA=p.R479Q;CNT=3 +4 153247366 COSM447499 C T . . GENE=FBXW7_ENST00000534231;STRAND=-;CDS=c.719G>A;AA=p.R240Q;CNT=3 +4 153247366 COSM420172 C G . . GENE=FBXW7_ENST00000534231;STRAND=-;CDS=c.719G>C;AA=p.R240P;CNT=1 +4 153247366 COSM420170 C G . . GENE=FBXW7_ENST00000281708;STRAND=-;CDS=c.1436G>C;AA=p.R479P;CNT=1 +4 153247366 COSM94297 C T . . GENE=FBXW7_NM_018315_2;STRAND=-;CDS=c.1196G>A;AA=p.R399Q;CNT=3 +4 153247366 COSM1154291 C T . . GENE=FBXW7_ENST00000296555;STRAND=-;CDS=c.1082G>A;AA=p.R361Q;CNT=3 +4 153247366 COSM22974 C T . . GENE=FBXW7;STRAND=-;CDS=c.1436G>A;AA=p.R479Q;CNT=3 +4 153247367 COSM206699 G A . . GENE=FBXW7_ENST00000281708;STRAND=-;CDS=c.1435C>T;AA=p.R479*;CNT=2 +4 153247367 COSM732376 G T . . GENE=FBXW7;STRAND=-;CDS=c.1435C>A;AA=p.R479R;CNT=1 +4 153247367 COSM732379 G T . . GENE=FBXW7_ENST00000534231;STRAND=-;CDS=c.718C>A;AA=p.R240R;CNT=1 +4 153247367 COSM206697 G A . . GENE=FBXW7;STRAND=-;CDS=c.1435C>T;AA=p.R479*;CNT=2 +4 153247367 COSM732378 G T . . GENE=FBXW7_NM_018315_2;STRAND=-;CDS=c.1195C>A;AA=p.R399R;CNT=1 +4 153247367 COSM206696 G A . . GENE=FBXW7_NM_018315_2;STRAND=-;CDS=c.1195C>T;AA=p.R399*;CNT=2 +4 153247367 COSM1149855 G T . . GENE=FBXW7_ENST00000296555;STRAND=-;CDS=c.1081C>A;AA=p.R361R;CNT=1 +4 153247367 COSM1149854 G A . . GENE=FBXW7_ENST00000296555;STRAND=-;CDS=c.1081C>T;AA=p.R361*;CNT=1 +4 153247367 COSM732377 G T . . GENE=FBXW7_ENST00000281708;STRAND=-;CDS=c.1435C>A;AA=p.R479R;CNT=1 +4 153247367 COSM206698 G A . . GENE=FBXW7_ENST00000534231;STRAND=-;CDS=c.718C>T;AA=p.R240*;CNT=2 +4 153247374 COSM206702 G T . . GENE=FBXW7_ENST00000534231;STRAND=-;CDS=c.711C>A;AA=p.S237R;CNT=1 +4 153247374 COSM206701 G T . . GENE=FBXW7;STRAND=-;CDS=c.1428C>A;AA=p.S476R;CNT=1 +4 153247374 COSM206700 G T . . GENE=FBXW7_NM_018315_2;STRAND=-;CDS=c.1188C>A;AA=p.S396R;CNT=1 +4 153247374 COSM206703 G T . . GENE=FBXW7_ENST00000281708;STRAND=-;CDS=c.1428C>A;AA=p.S476R;CNT=1 +4 153247375 COSM1052087 C A . . GENE=FBXW7;STRAND=-;CDS=c.1427G>T;AA=p.S476I;CNT=1 +4 153247375 COSM1052088 C A . . GENE=FBXW7_ENST00000281708;STRAND=-;CDS=c.1427G>T;AA=p.S476I;CNT=1 +4 153247375 COSM1154292 C A . . GENE=FBXW7_ENST00000296555;STRAND=-;CDS=c.1073G>T;AA=p.S358I;CNT=1 +4 153247375 COSM1052089 C A . . GENE=FBXW7_NM_018315_2;STRAND=-;CDS=c.1187G>T;AA=p.S396I;CNT=1 +4 153247375 COSM1052090 C A . . GENE=FBXW7_ENST00000534231;STRAND=-;CDS=c.710G>T;AA=p.S237I;CNT=1 +4 153249360 COSM24620 CT C . . GENE=FBXW7;STRAND=-;CDS=c.1417delA;AA=p.R473fs*25;CNT=1 +4 153249360 COSM292754 CT C . . GENE=FBXW7_ENST00000281708;STRAND=-;CDS=c.1417delA;AA=p.R473fs*25;CNT=1 +4 153249360 COSM292753 CT C . . GENE=FBXW7_ENST00000534231;STRAND=-;CDS=c.700delA;AA=p.R234fs*25;CNT=1 +4 153249360 COSM292752 CT C . . GENE=FBXW7_NM_018315_2;STRAND=-;CDS=c.1177delA;AA=p.R393fs*25;CNT=1 +4 153249366 COSM305935 T C . . GENE=FBXW7;STRAND=-;CDS=c.1412A>G;AA=p.E471G;CNT=1 +4 153249366 COSM305937 T C . . GENE=FBXW7_ENST00000281708;STRAND=-;CDS=c.1412A>G;AA=p.E471G;CNT=1 +4 153249366 COSM305934 T C . . GENE=FBXW7_NM_018315_2;STRAND=-;CDS=c.1172A>G;AA=p.E391G;CNT=1 +4 153249366 COSM305936 T C . . GENE=FBXW7_ENST00000534231;STRAND=-;CDS=c.695A>G;AA=p.E232G;CNT=1 +4 153249367 COSM305950 C A . . GENE=FBXW7_NM_018315_2;STRAND=-;CDS=c.1171G>T;AA=p.E391*;CNT=1 +4 153249367 COSM305951 C A . . GENE=FBXW7;STRAND=-;CDS=c.1411G>T;AA=p.E471*;CNT=1 +4 153249367 COSM305952 C A . . GENE=FBXW7_ENST00000534231;STRAND=-;CDS=c.694G>T;AA=p.E232*;CNT=1 +4 153249367 COSM305953 C A . . GENE=FBXW7_ENST00000281708;STRAND=-;CDS=c.1411G>T;AA=p.E471*;CNT=1 +4 153249369 COSM1206890 T C . . GENE=FBXW7_ENST00000296555;STRAND=-;CDS=c.1055A>G;AA=p.H352R;CNT=1 +4 153249369 COSM1206889 T C . . GENE=FBXW7_NM_018315_2;STRAND=-;CDS=c.1169A>G;AA=p.H390R;CNT=1 +4 153249369 COSM1206887 T C . . GENE=FBXW7;STRAND=-;CDS=c.1409A>G;AA=p.H470R;CNT=1 +4 153249369 COSM1206891 T C . . GENE=FBXW7_ENST00000534231;STRAND=-;CDS=c.692A>G;AA=p.H231R;CNT=1 +4 153249369 COSM1206888 T C . . GENE=FBXW7_ENST00000281708;STRAND=-;CDS=c.1409A>G;AA=p.H470R;CNT=1 +4 153249384 COSM673924 C A . . GENE=FBXW7_ENST00000534231;STRAND=-;CDS=c.677G>T;AA=p.R226L;CNT=1 +4 153249384 COSM22965 C T . . GENE=FBXW7;STRAND=-;CDS=c.1394G>A;AA=p.R465H;CNT=16 +4 153249384 COSM673923 C A . . GENE=FBXW7_NM_018315_2;STRAND=-;CDS=c.1154G>T;AA=p.R385L;CNT=1 +4 153249384 COSM33762 C A . . GENE=FBXW7;STRAND=-;CDS=c.1394G>T;AA=p.R465L;CNT=1 +4 153249384 COSM117308 C T . . GENE=FBXW7_NM_018315_2;STRAND=-;CDS=c.1154G>A;AA=p.R385H;CNT=16 +4 153249384 COSM1149856 C T . . GENE=FBXW7_ENST00000296555;STRAND=-;CDS=c.1040G>A;AA=p.R347H;CNT=6 +4 153249384 COSM117309 C T . . GENE=FBXW7_ENST00000534231;STRAND=-;CDS=c.677G>A;AA=p.R226H;CNT=16 +4 153249384 COSM117310 C T . . GENE=FBXW7_ENST00000281708;STRAND=-;CDS=c.1394G>A;AA=p.R465H;CNT=16 +4 153249384 COSM673925 C A . . GENE=FBXW7_ENST00000281708;STRAND=-;CDS=c.1394G>T;AA=p.R465L;CNT=1 +4 153249385 COSM22932 G A . . GENE=FBXW7;STRAND=-;CDS=c.1393C>T;AA=p.R465C;CNT=12 +4 153249385 COSM170725 G A . . GENE=FBXW7_NM_018315_2;STRAND=-;CDS=c.1153C>T;AA=p.R385C;CNT=12 +4 153249385 COSM1154293 G A . . GENE=FBXW7_ENST00000296555;STRAND=-;CDS=c.1039C>T;AA=p.R347C;CNT=6 +4 153249385 COSM170726 G A . . GENE=FBXW7_ENST00000534231;STRAND=-;CDS=c.676C>T;AA=p.R226C;CNT=12 +4 153249385 COSM170727 G A . . GENE=FBXW7_ENST00000281708;STRAND=-;CDS=c.1393C>T;AA=p.R465C;CNT=12 +4 153249387 COSM403809 A T . . GENE=FBXW7_ENST00000281708;STRAND=-;CDS=c.1391T>A;AA=p.V464E;CNT=1 +4 153249387 COSM403808 A T . . GENE=FBXW7;STRAND=-;CDS=c.1391T>A;AA=p.V464E;CNT=1 +4 153249387 COSM403810 A T . . GENE=FBXW7_NM_018315_2;STRAND=-;CDS=c.1151T>A;AA=p.V384E;CNT=1 +4 153249387 COSM403811 A T . . GENE=FBXW7_ENST00000534231;STRAND=-;CDS=c.674T>A;AA=p.V225E;CNT=1 +4 153249393 COSM1177867 G A . . GENE=FBXW7_ENST00000296555;STRAND=-;CDS=c.1031C>T;AA=p.S344F;CNT=1 +4 153249393 COSM1177864 G A . . GENE=FBXW7;STRAND=-;CDS=c.1385C>T;AA=p.S462F;CNT=1 +4 153249393 COSM1177868 G A . . GENE=FBXW7_ENST00000534231;STRAND=-;CDS=c.668C>T;AA=p.S223F;CNT=1 +4 153249393 COSM1177866 G A . . GENE=FBXW7_NM_018315_2;STRAND=-;CDS=c.1145C>T;AA=p.S382F;CNT=1 +4 153249393 COSM1177865 G A . . GENE=FBXW7_ENST00000281708;STRAND=-;CDS=c.1385C>T;AA=p.S462F;CNT=1 +4 153249410 COSM1149857 G T . . GENE=FBXW7_ENST00000296555;STRAND=-;CDS=c.1014C>A;AA=p.T338T;CNT=1 +4 153249410 COSM732372 G T . . GENE=FBXW7;STRAND=-;CDS=c.1368C>A;AA=p.T456T;CNT=1 +4 153249410 COSM732374 G T . . GENE=FBXW7_NM_018315_2;STRAND=-;CDS=c.1128C>A;AA=p.T376T;CNT=1 +4 153249410 COSM732373 G T . . GENE=FBXW7_ENST00000281708;STRAND=-;CDS=c.1368C>A;AA=p.T456T;CNT=1 +4 153249410 COSM732375 G T . . GENE=FBXW7_ENST00000534231;STRAND=-;CDS=c.651C>A;AA=p.T217T;CNT=1 +4 153249440 COSM1158150 C A . . GENE=FBXW7_NM_018315_2;STRAND=-;CDS=c.1098G>T;AA=p.W366C;CNT=1 +4 153249440 COSM1158149 C A . . GENE=FBXW7_ENST00000281708;STRAND=-;CDS=c.1338G>T;AA=p.W446C;CNT=1 +4 153249440 COSM1158152 C A . . GENE=FBXW7_ENST00000534231;STRAND=-;CDS=c.621G>T;AA=p.W207C;CNT=1 +4 153249440 COSM1158148 C A . . GENE=FBXW7;STRAND=-;CDS=c.1338G>T;AA=p.W446C;CNT=1 +4 153249440 COSM1158151 C A . . GENE=FBXW7_ENST00000296555;STRAND=-;CDS=c.984G>T;AA=p.W328C;CNT=1 +4 153249456 COSM1177748 C G . . GENE=FBXW7_ENST00000534231;STRAND=-;CDS=c.605G>C;AA=p.R202P;CNT=1 +4 153249456 COSM1052091 C T . . GENE=FBXW7;STRAND=-;CDS=c.1322G>A;AA=p.R441Q;CNT=1 +4 153249456 COSM1177745 C G . . GENE=FBXW7_ENST00000281708;STRAND=-;CDS=c.1322G>C;AA=p.R441P;CNT=1 +4 153249456 COSM1154294 C T . . GENE=FBXW7_ENST00000296555;STRAND=-;CDS=c.968G>A;AA=p.R323Q;CNT=1 +4 153249456 COSM161024 C A . . GENE=FBXW7;STRAND=-;CDS=c.1322G>T;AA=p.R441L;CNT=1 +4 153249456 COSM161026 C A . . GENE=FBXW7_ENST00000281708;STRAND=-;CDS=c.1322G>T;AA=p.R441L;CNT=1 +4 153249456 COSM1052094 C T . . GENE=FBXW7_ENST00000534231;STRAND=-;CDS=c.605G>A;AA=p.R202Q;CNT=1 +4 153249456 COSM1052092 C T . . GENE=FBXW7_ENST00000281708;STRAND=-;CDS=c.1322G>A;AA=p.R441Q;CNT=1 +4 153249456 COSM161023 C A . . GENE=FBXW7_NM_018315_2;STRAND=-;CDS=c.1082G>T;AA=p.R361L;CNT=1 +4 153249456 COSM1177744 C G . . GENE=FBXW7;STRAND=-;CDS=c.1322G>C;AA=p.R441P;CNT=1 +4 153249456 COSM161025 C A . . GENE=FBXW7_ENST00000534231;STRAND=-;CDS=c.605G>T;AA=p.R202L;CNT=1 +4 153249456 COSM1052093 C T . . GENE=FBXW7_NM_018315_2;STRAND=-;CDS=c.1082G>A;AA=p.R361Q;CNT=1 +4 153249456 COSM1177746 C G . . GENE=FBXW7_NM_018315_2;STRAND=-;CDS=c.1082G>C;AA=p.R361P;CNT=1 +4 153249456 COSM1177747 C G . . GENE=FBXW7_ENST00000296555;STRAND=-;CDS=c.968G>C;AA=p.R323P;CNT=1 +4 153249469 COSM289996 C T . . GENE=FBXW7_NM_018315_2;STRAND=-;CDS=c.1069G>A;AA=p.G357R;CNT=1 +4 153249469 COSM289998 C T . . GENE=FBXW7_ENST00000534231;STRAND=-;CDS=c.592G>A;AA=p.G198R;CNT=1 +4 153249469 COSM289997 C T . . GENE=FBXW7;STRAND=-;CDS=c.1309G>A;AA=p.G437R;CNT=1 +4 153249469 COSM289999 C T . . GENE=FBXW7_ENST00000281708;STRAND=-;CDS=c.1309G>A;AA=p.G437R;CNT=1 +4 153249501 COSM420168 G A . . GENE=FBXW7_ENST00000534231;STRAND=-;CDS=c.560C>T;AA=p.S187L;CNT=1 +4 153249501 COSM420166 G A . . GENE=FBXW7_ENST00000281708;STRAND=-;CDS=c.1277C>T;AA=p.S426L;CNT=1 +4 153249501 COSM1133713 G A . . GENE=FBXW7_ENST00000296555;STRAND=-;CDS=c.923C>T;AA=p.S308L;CNT=1 +4 153249501 COSM420165 G A . . GENE=FBXW7;STRAND=-;CDS=c.1277C>T;AA=p.S426L;CNT=1 +4 153249501 COSM420167 G A . . GENE=FBXW7_NM_018315_2;STRAND=-;CDS=c.1037C>T;AA=p.S346L;CNT=1 +4 153249510 COSM1052097 C A . . GENE=FBXW7_ENST00000534231;STRAND=-;CDS=c.551G>T;AA=p.G184V;CNT=2 +4 153249510 COSM22984 C A . . GENE=FBXW7;STRAND=-;CDS=c.1268G>T;AA=p.G423V;CNT=2 +4 153249510 COSM1154295 C A . . GENE=FBXW7_ENST00000296555;STRAND=-;CDS=c.914G>T;AA=p.G305V;CNT=2 +4 153249510 COSM1052095 C A . . GENE=FBXW7_ENST00000281708;STRAND=-;CDS=c.1268G>T;AA=p.G423V;CNT=2 +4 153249510 COSM1052096 C A . . GENE=FBXW7_NM_018315_2;STRAND=-;CDS=c.1028G>T;AA=p.G343V;CNT=2 +4 153250855 COSM256125 GTGT G . . GENE=FBXW7;STRAND=-;CDS=c.1202_1204delACA;AA=p.N401delN;CNT=1 +4 153250855 COSM256127 GTGT G . . GENE=FBXW7_ENST00000281708;STRAND=-;CDS=c.1202_1204delACA;AA=p.N401delN;CNT=1 +4 153250855 COSM256126 GTGT G . . GENE=FBXW7_ENST00000534231;STRAND=-;CDS=c.485_487delACA;AA=p.N162delN;CNT=1 +4 153250855 COSM256124 GTGT G . . GENE=FBXW7_NM_018315_2;STRAND=-;CDS=c.962_964delACA;AA=p.N321delN;CNT=1 +4 153250883 COSM1052103 G A . . GENE=FBXW7_NM_018315_2;STRAND=-;CDS=c.937C>T;AA=p.R313*;CNT=1 +4 153250883 COSM22973 G A . . GENE=FBXW7;STRAND=-;CDS=c.1177C>T;AA=p.R393*;CNT=1 +4 153250883 COSM1052102 G A . . GENE=FBXW7_ENST00000281708;STRAND=-;CDS=c.1177C>T;AA=p.R393*;CNT=1 +4 153250883 COSM1154296 G A . . GENE=FBXW7_ENST00000296555;STRAND=-;CDS=c.823C>T;AA=p.R275*;CNT=1 +4 153250883 COSM1052104 G A . . GENE=FBXW7_ENST00000534231;STRAND=-;CDS=c.460C>T;AA=p.R154*;CNT=1 +4 153258955 COSM271649 T A . . GENE=FBXW7_ENST00000534231;STRAND=-;CDS=c.143A>T;AA=p.E48V;CNT=1 +4 153258955 COSM271650 T A . . GENE=FBXW7_ENST00000281708;STRAND=-;CDS=c.860A>T;AA=p.E287V;CNT=1 +4 153258955 COSM271648 T A . . GENE=FBXW7;STRAND=-;CDS=c.860A>T;AA=p.E287V;CNT=1 +4 153258955 COSM271647 T A . . GENE=FBXW7_NM_018315_2;STRAND=-;CDS=c.620A>T;AA=p.E207V;CNT=1 +4 153258983 COSM327087 G A . . GENE=FBXW7_ENST00000534231;STRAND=-;CDS=c.115C>T;AA=p.R39*;CNT=1 +4 153258983 COSM22971 G A . . GENE=FBXW7;STRAND=-;CDS=c.832C>T;AA=p.R278*;CNT=1 +4 153258983 COSM327086 G A . . GENE=FBXW7_NM_018315_2;STRAND=-;CDS=c.592C>T;AA=p.R198*;CNT=1 +4 153258983 COSM327088 G A . . GENE=FBXW7_ENST00000281708;STRAND=-;CDS=c.832C>T;AA=p.R278*;CNT=1 +4 153258983 COSM1173027 G A . . GENE=FBXW7_ENST00000296555;STRAND=-;CDS=c.478C>T;AA=p.R160*;CNT=1 +4 153259045 COSM1206883 A T . . GENE=FBXW7_ENST00000281708;STRAND=-;CDS=c.770T>A;AA=p.I257N;CNT=1 +4 153259045 COSM1206884 A T . . GENE=FBXW7_NM_018315_2;STRAND=-;CDS=c.530T>A;AA=p.I177N;CNT=1 +4 153259045 COSM1206885 A T . . GENE=FBXW7_ENST00000296555;STRAND=-;CDS=c.416T>A;AA=p.I139N;CNT=1 +4 153259045 COSM1206882 A T . . GENE=FBXW7;STRAND=-;CDS=c.770T>A;AA=p.I257N;CNT=1 +4 153259045 COSM1206886 A T . . GENE=FBXW7_ENST00000534231;STRAND=-;CDS=c.53T>A;AA=p.I18N;CNT=1 +5 112173893 COSM735077 G C . . GENE=APC;STRAND=+;CDS=c.2602G>C;AA=p.E868Q;CNT=1 +5 112173917 COSM18852 C T . . GENE=APC;STRAND=+;CDS=c.2626C>T;AA=p.R876*;CNT=18 +5 112173918 COSM1183183 G A . . GENE=APC;STRAND=+;CDS=c.2627G>A;AA=p.R876Q;CNT=2 +5 112173986 COSM256049 ACC A . . GENE=APC;STRAND=+;CDS=c.2696_2697delCC;AA=p.T899fs*12;CNT=1 +5 112173986 COSM1180984 AC A . . GENE=APC;STRAND=+;CDS=c.2696delC;AA=p.S900fs*16;CNT=2 +5 112173992 COSM201302 C T . . GENE=APC;STRAND=+;CDS=c.2701C>T;AA=p.Q901*;CNT=1 +5 112173995 COSM1178881 G T . . GENE=APC;STRAND=+;CDS=c.2704G>T;AA=p.E902*;CNT=1 +5 112174009 COSM1059578 T C . . GENE=APC;STRAND=+;CDS=c.2718T>C;AA=p.S906S;CNT=1 +5 112174022 COSM235665 G T . . GENE=APC;STRAND=+;CDS=c.2731G>T;AA=p.E911*;CNT=1 +5 112174043 COSM19065 G T . . GENE=APC;STRAND=+;CDS=c.2752G>T;AA=p.E918*;CNT=1 +5 112174061 COSM293047 A T . . GENE=APC;STRAND=+;CDS=c.2770A>T;AA=p.R924*;CNT=1 +5 112174062 COSM1194493 G A . . GENE=APC;STRAND=+;CDS=c.2771G>A;AA=p.R924K;CNT=1 +5 112174604 COSM235686 C T . . GENE=APC;STRAND=+;CDS=c.3313C>T;AA=p.R1105W;CNT=1 +5 112174611 COSM268675 C T . . GENE=APC;STRAND=+;CDS=c.3320C>T;AA=p.A1107V;CNT=1 +5 112174626 COSM108292 C A . . GENE=APC;STRAND=+;CDS=c.3335C>A;AA=p.T1112K;CNT=1 +5 112174631 COSM13125 C T . . GENE=APC;STRAND=+;CDS=c.3340C>T;AA=p.R1114*;CNT=8 +5 112174650 COSM387576 G C . . GENE=APC;STRAND=+;CDS=c.3359G>C;AA=p.G1120A;CNT=1 +5 112174650 COSM19329 G A . . GENE=APC;STRAND=+;CDS=c.3359G>A;AA=p.G1120E;CNT=1 +5 112174700 COSM462098 G C . . GENE=APC;STRAND=+;CDS=c.3409G>C;AA=p.D1137H;CNT=1 +5 112174742 COSM249227 G C . . GENE=APC;STRAND=+;CDS=c.3451G>C;AA=p.E1151Q;CNT=1 +5 112174745 COSM201304 C T . . GENE=APC;STRAND=+;CDS=c.3454C>T;AA=p.Q1152*;CNT=1 +5 112174762 COSM388400 G C . . GENE=APC;STRAND=+;CDS=c.3471G>C;AA=p.E1157D;CNT=1 +5 112174774 COSM256325 T G . . GENE=APC;STRAND=+;CDS=c.3483T>G;AA=p.N1161K;CNT=1 +5 112175052 COSM201306 T A . . GENE=APC;STRAND=+;CDS=c.3761T>A;AA=p.I1254N;CNT=1 +5 112175060 COSM169041 G T . . GENE=APC;STRAND=+;CDS=c.3769G>T;AA=p.E1257*;CNT=1 +5 112175069 COSM256144 C T . . GENE=APC;STRAND=+;CDS=c.3778C>T;AA=p.Q1260*;CNT=1 +5 112175101 COSM290422 T A . . GENE=APC;STRAND=+;CDS=c.3810T>A;AA=p.C1270*;CNT=1 +5 112175133 COSM19212 C A . . GENE=APC;STRAND=+;CDS=c.3842C>A;AA=p.S1281*;CNT=1 +5 112175136 COSM23576 C G . . GENE=APC;STRAND=+;CDS=c.3845C>G;AA=p.S1282*;CNT=1 +5 112175147 COSM18772 G T . . GENE=APC;STRAND=+;CDS=c.3856G>T;AA=p.E1286*;CNT=1 +5 112175148 COSM116903 A G . . GENE=APC;STRAND=+;CDS=c.3857A>G;AA=p.E1286G;CNT=1 +5 112175153 COSM19577 G T . . GENE=APC;STRAND=+;CDS=c.3862G>T;AA=p.G1288*;CNT=1 +5 112175161 COSM1183188 T A . . GENE=APC;STRAND=+;CDS=c.3870T>A;AA=p.N1290K;CNT=2 +5 112175161 COSM1180985 TC T . . GENE=APC;STRAND=+;CDS=c.3871delC;AA=p.Q1291fs*14;CNT=2 +5 112175167 COSM19579 GAC G . . GENE=APC;STRAND=+;CDS=c.3877_3878delAC;AA=p.Q1294fs*6;CNT=1 +5 112175171 COSM18960 C T . . GENE=APC;STRAND=+;CDS=c.3880C>T;AA=p.Q1294*;CNT=3 +5 112175174 COSM18961 G T . . GENE=APC;STRAND=+;CDS=c.3883G>T;AA=p.E1295*;CNT=1 +5 112175174 COSM293282 GA G . . GENE=APC;STRAND=+;CDS=c.3884delA;AA=p.A1296fs*9;CNT=1 +5 112175192 COSM300845 AC A . . GENE=APC;STRAND=+;CDS=c.3902delC;AA=p.L1302fs*3;CNT=1 +5 112175198 COSM13728 C T . . GENE=APC;STRAND=+;CDS=c.3907C>T;AA=p.Q1303*;CNT=1 +5 112175202 COSM23582 TA T . . GENE=APC;STRAND=+;CDS=c.3912delA;AA=p.I1304fs*4;CNT=1 +5 112175207 COSM18760 G T . . GENE=APC;STRAND=+;CDS=c.3916G>T;AA=p.E1306*;CNT=5 +5 112175211 COSM18764 TAAAAG T . . GENE=APC;STRAND=+;CDS=c.3921_3925delAAAAG;AA=p.E1309fs*4;CNT=3 +5 112175216 COSM18775 G T . . GENE=APC;STRAND=+;CDS=c.3925G>T;AA=p.E1309*;CNT=2 +5 112175216 COSM288539 GAA G . . GENE=APC;STRAND=+;CDS=c.3926_3927delAA;AA=p.K1310fs*4;CNT=1 +5 112175222 COSM292899 ATT A . . GENE=APC;STRAND=+;CDS=c.3932_3933delTT;AA=p.I1311fs*3;CNT=1 +5 112175225 COSM18817 G T . . GENE=APC;STRAND=+;CDS=c.3934G>T;AA=p.G1312*;CNT=2 +5 112175225 COSM588988 G C . . GENE=APC;STRAND=+;CDS=c.3934G>C;AA=p.G1312R;CNT=1 +5 112175226 COSM300648 G GA . . GENE=APC;STRAND=+;CDS=c.3935_3936insA;AA=p.T1313fs*2;CNT=1 +5 112175235 COSM18777 C A . . GENE=APC;STRAND=+;CDS=c.3944C>A;AA=p.S1315*;CNT=2 +5 112175245 COSM287761 TC T . . GENE=APC;STRAND=+;CDS=c.3955delC;AA=p.P1319fs*2;CNT=1 +5 112175246 COSM392372 CCTGTGAGCGA C . . GENE=APC;STRAND=+;CDS=c.3956_3965del10;AA=p.P1319fs*93;CNT=1 +5 112175247 COSM19010 C T . . GENE=APC;STRAND=+;CDS=c.3956C>T;AA=p.P1319L;CNT=1 +5 112175255 COSM18702 G T . . GENE=APC;STRAND=+;CDS=c.3964G>T;AA=p.E1322*;CNT=2 +5 112175273 COSM18859 C T . . GENE=APC;STRAND=+;CDS=c.3982C>T;AA=p.Q1328*;CNT=2 +5 112175301 COSM304960 TGC TCT . . GENE=APC;STRAND=+;CDS=c.4011_4012GC>CT;AA=p.Q1338*;CNT=1 +5 112175303 COSM13129 C T . . GENE=APC;STRAND=+;CDS=c.4012C>T;AA=p.Q1338*;CNT=6 +5 112175328 COSM25826 C G . . GENE=APC;STRAND=+;CDS=c.4037C>G;AA=p.S1346*;CNT=2 +5 112175328 COSM19084 C A . . GENE=APC;STRAND=+;CDS=c.4037C>A;AA=p.S1346*;CNT=1 +5 112175330 COSM223025 G A . . GENE=APC;STRAND=+;CDS=c.4039G>A;AA=p.A1347T;CNT=1 +5 112175345 COSM295899 GT G . . GENE=APC;STRAND=+;CDS=c.4055delT;AA=p.E1353fs*62;CNT=1 +5 112175348 COSM19048 G T . . GENE=APC;STRAND=+;CDS=c.4057G>T;AA=p.E1353*;CNT=2 +5 112175350 COSM292626 AT A . . GENE=APC;STRAND=+;CDS=c.4060delT;AA=p.S1355fs*60;CNT=2 +5 112175355 COSM1183191 C A . . GENE=APC;STRAND=+;CDS=c.4064C>A;AA=p.S1355Y;CNT=2 +5 112175358 COSM18779 C G . . GENE=APC;STRAND=+;CDS=c.4067C>G;AA=p.S1356*;CNT=1 +5 112175378 COSM18797 A T . . GENE=APC;STRAND=+;CDS=c.4087A>T;AA=p.K1363*;CNT=1 +5 112175390 COSM13121 C T . . GENE=APC;STRAND=+;CDS=c.4099C>T;AA=p.Q1367*;CNT=6 +5 112175398 COSM295587 C A . . GENE=APC;STRAND=+;CDS=c.4107C>A;AA=p.P1369P;CNT=1 +5 112175399 COSM18758 A T . . GENE=APC;STRAND=+;CDS=c.4108A>T;AA=p.K1370*;CNT=1 +5 112175411 COSM19085 G T . . GENE=APC;STRAND=+;CDS=c.4120G>T;AA=p.E1374*;CNT=3 +5 112175419 COSM18861 T A . . GENE=APC;STRAND=+;CDS=c.4128T>A;AA=p.Y1376*;CNT=1 +5 112175423 COSM18862 C T . . GENE=APC;STRAND=+;CDS=c.4132C>T;AA=p.Q1378*;CNT=10 +5 112175423 COSM290350 CA C . . GENE=APC;STRAND=+;CDS=c.4133delA;AA=p.Q1378fs*37;CNT=1 +5 112175426 COSM18834 G T . . GENE=APC;STRAND=+;CDS=c.4135G>T;AA=p.E1379*;CNT=3 +5 112175429 COSM19584 A AC . . GENE=APC;STRAND=+;CDS=c.4138_4139insC;AA=p.L1382fs*4;CNT=1 +5 112175432 COSM143913 C T . . GENE=APC;STRAND=+;CDS=c.4141C>T;AA=p.P1381S;CNT=1 +5 112175438 COSM256050 A AT . . GENE=APC;STRAND=+;CDS=c.4147_4148insT;AA=p.M1383fs*3;CNT=1 +5 112175446 COSM19586 C CAGAT . . GENE=APC;STRAND=+;CDS=c.4155_4156insAGAT;AA=p.C1387fs*1;CNT=1 +5 112175447 COSM18864 A T . . GENE=APC;STRAND=+;CDS=c.4156A>T;AA=p.R1386*;CNT=2 +5 112175468 COSM735074 C A . . GENE=APC;STRAND=+;CDS=c.4177C>A;AA=p.L1393I;CNT=1 +5 112175480 COSM18865 G T . . GENE=APC;STRAND=+;CDS=c.4189G>T;AA=p.E1397*;CNT=1 +5 112175483 COSM295697 AG A . . GENE=APC;STRAND=+;CDS=c.4193delG;AA=p.S1398fs*17;CNT=1 +5 112175487 COSM201307 G A . . GENE=APC;STRAND=+;CDS=c.4196G>A;AA=p.R1399H;CNT=1 +5 112175489 COSM19051 TC T . . GENE=APC;STRAND=+;CDS=c.4199delC;AA=p.S1400fs*1;CNT=1 +5 112175490 COSM171089 C T . . GENE=APC;STRAND=+;CDS=c.4199C>T;AA=p.S1400L;CNT=3 +5 112175494 COSM242996 T C . . GENE=APC;STRAND=+;CDS=c.4203T>C;AA=p.I1401I;CNT=1 +5 112175497 COSM1137229 C T . . GENE=APC;STRAND=+;CDS=c.4206C>T;AA=p.A1402A;CNT=1 +5 112175507 COSM19087 C T . . GENE=APC;STRAND=+;CDS=c.4216C>T;AA=p.Q1406*;CNT=3 +5 112175513 COSM18822 G T . . GENE=APC;STRAND=+;CDS=c.4222G>T;AA=p.E1408*;CNT=5 +5 112175520 COSM292171 G C . . GENE=APC;STRAND=+;CDS=c.4229G>C;AA=p.C1410S;CNT=1 +5 112175521 COSM19592 C A . . GENE=APC;STRAND=+;CDS=c.4230C>A;AA=p.C1410*;CNT=1 +5 112175523 COSM18948 GT G . . GENE=APC;STRAND=+;CDS=c.4233delT;AA=p.S1411fs*4;CNT=1 +5 112175529 COSM18887 TG T . . GENE=APC;STRAND=+;CDS=c.4239delG;AA=p.V1414fs*1;CNT=2 +5 112175531 COSM27577 G A . . GENE=APC;STRAND=+;CDS=c.4240G>A;AA=p.V1414I;CNT=1 +5 112175547 COSM300272 G A . . GENE=APC;STRAND=+;CDS=c.4256G>A;AA=p.S1419N;CNT=1 +5 112175547 COSM1180986 GCC G . . GENE=APC;STRAND=+;CDS=c.4257_4258delCC;AA=p.P1420fs*2;CNT=2 +5 112175551 COSM19278 CA C . . GENE=APC;STRAND=+;CDS=c.4261delA;AA=p.S1421fs*52;CNT=1 +5 112175552 COSM295636 AG A . . GENE=APC;STRAND=+;CDS=c.4262delG;AA=p.S1421fs*52;CNT=1 +5 112175576 COSM18836 C T . . GENE=APC;STRAND=+;CDS=c.4285C>T;AA=p.Q1429*;CNT=1 +5 112175577 COSM69686 A G . . GENE=APC;STRAND=+;CDS=c.4286A>G;AA=p.Q1429R;CNT=1 +5 112175593 COSM301342 CA C . . GENE=APC;STRAND=+;CDS=c.4303delA;AA=p.R1435fs*38;CNT=1 +5 112175604 COSM19053 CAC C . . GENE=APC;STRAND=+;CDS=c.4314_4315delAC;AA=p.P1439fs*15;CNT=1 +5 112175604 COSM296347 CA C . . GENE=APC;STRAND=+;CDS=c.4314delA;AA=p.P1439fs*34;CNT=1 +5 112175639 COSM13127 C T . . GENE=APC;STRAND=+;CDS=c.4348C>T;AA=p.R1450*;CNT=27 +5 112175649 COSM287333 C CTT . . GENE=APC;STRAND=+;CDS=c.4358_4359insTT;AA=p.K1454fs*20;CNT=1 +5 112175651 COSM27993 A G . . GENE=APC;STRAND=+;CDS=c.4360A>G;AA=p.K1454E;CNT=1 +5 112175675 COSM18873 AAG A . . GENE=APC;STRAND=+;CDS=c.4385_4386delAG;AA=p.S1465fs*3;CNT=1 +5 112175678 COSM159119 A T . . GENE=APC;STRAND=+;CDS=c.4387A>T;AA=p.R1463*;CNT=1 +5 112175696 COSM18729 C T . . GENE=APC;STRAND=+;CDS=c.4405C>T;AA=p.Q1469*;CNT=1 +5 112175745 COSM19708 CT C . . GENE=APC;STRAND=+;CDS=c.4455delT;AA=p.D1486fs*21;CNT=2 +5 112175751 COSM19288 CTTTA C . . GENE=APC;STRAND=+;CDS=c.4461_4464delTTTA;AA=p.L1488fs*18;CNT=2 +5 112175751 COSM18999 CT C . . GENE=APC;STRAND=+;CDS=c.4461delT;AA=p.L1488fs*19;CNT=3 +5 112175757 COSM291723 T A . . GENE=APC;STRAND=+;CDS=c.4466T>A;AA=p.L1489*;CNT=1 +5 112175760 COSM19623 AT A . . GENE=APC;STRAND=+;CDS=c.4470delT;AA=p.F1491fs*16;CNT=1 +5 112175830 COSM1173082 GC G . . GENE=APC;STRAND=+;CDS=c.4540delC;AA=p.P1514fs*9;CNT=3 +5 112175852 COSM1183180 G T . . GENE=APC;STRAND=+;CDS=c.4561G>T;AA=p.E1521*;CNT=2 +5 112175876 COSM1183187 C T . . GENE=APC;STRAND=+;CDS=c.4585C>T;AA=p.Q1529*;CNT=2 +5 112175897 COSM19056 G T . . GENE=APC;STRAND=+;CDS=c.4606G>T;AA=p.E1536*;CNT=1 +5 112175910 COSM238808 AG A . . GENE=APC;STRAND=+;CDS=c.4620delG;AA=p.E1540fs*25;CNT=1 +5 112175921 COSM462097 G C . . GENE=APC;STRAND=+;CDS=c.4630G>C;AA=p.E1544Q;CNT=1 +5 112175947 COSM238809 G GAAGAG . . GENE=APC;STRAND=+;CDS=c.4656_4657insAAGAG;AA=p.A1553fs*14;CNT=1 +5 112175951 COSM19695 G GA . . GENE=APC;STRAND=+;CDS=c.4660_4661insA;AA=p.T1556fs*3;CNT=2 +5 112175957 COSM18561 A AA . . GENE=APC;STRAND=+;CDS=c.4666_4667insA;AA=p.T1556fs*3;CNT=2 +5 112175969 COSM273730 G GA . . GENE=APC;STRAND=+;CDS=c.4678_4679insA;AA=p.D1562fs*5;CNT=1 +5 112175975 COSM588987 G A . . GENE=APC;STRAND=+;CDS=c.4684G>A;AA=p.D1562N;CNT=1 +5 112175978 COSM242471 CT C . . GENE=APC;STRAND=+;CDS=c.4688delT;AA=p.L1563fs*2;CNT=1 +5 112176002 COSM1194540 G T . . GENE=APC;STRAND=+;CDS=c.4711G>T;AA=p.D1571Y;CNT=1 +5 112176007 COSM251382 T TT . . GENE=APC;STRAND=+;CDS=c.4716_4717insT;AA=p.E1573fs*1;CNT=1 +5 112176008 COSM267970 GA G . . GENE=APC;STRAND=+;CDS=c.4718delA;AA=p.I1574fs*2;CNT=1 +5 112176017 COSM236691 G T . . GENE=APC;STRAND=+;CDS=c.4726G>T;AA=p.E1576*;CNT=1 +5 149433673 COSM310349 C T . . GENE=CSF1R;STRAND=-;CDS=c.2878G>A;AA=p.A960T;CNT=1 +5 149433673 COSM310350 C T . . GENE=CSF1R_ENST00000286301;STRAND=-;CDS=c.2878G>A;AA=p.A960T;CNT=1 +5 170837543 COSM158604 C CTCTG . . GENE=NPM1;STRAND=+;CDS=c.859_860insTCTG;AA=p.W288fs*>9;CNT=4 +5 170837543 COSM46518 C CTCGC . . GENE=NPM1;STRAND=+;CDS=c.859_860insTCGC;AA=p.W288fs*12;CNT=1 +5 170837545 COSM158600 C CTGCA . . GENE=NPM1;STRAND=+;CDS=c.861_862insTGCA;AA=p.W288fs*>9;CNT=2 +5 170837547 COSM17573 G GCCTG . . GENE=NPM1;STRAND=+;CDS=c.863_864insCCTG;AA=p.W288fs*12;CNT=2 +5 170837547 COSM17559 G GTCTG . . GENE=NPM1;STRAND=+;CDS=c.863_864insTCTG;AA=p.W288fs*12;CNT=15 +5 170837547 COSM20856 G GTCAG . . GENE=NPM1;STRAND=+;CDS=c.863_864insTCAG;AA=p.W288fs*12;CNT=1 +5 170837547 COSM17571 G GCATG . . GENE=NPM1;STRAND=+;CDS=c.863_864insCATG;AA=p.W288fs*12;CNT=3 +7 55211097 COSM174732 G A . . GENE=EGFR;STRAND=+;CDS=c.340G>A;AA=p.E114K;CNT=1 +7 55211097 COSM174733 G A . . GENE=EGFR_ENST00000344576;STRAND=+;CDS=c.340G>A;AA=p.E114K;CNT=1 +7 55221800 COSM453244 G A . . GENE=EGFR_ENST00000344576;STRAND=+;CDS=c.844G>A;AA=p.E282K;CNT=1 +7 55221800 COSM453243 G A . . GENE=EGFR;STRAND=+;CDS=c.844G>A;AA=p.E282K;CNT=1 +7 55233037 COSM21689 C T . . GENE=EGFR;STRAND=+;CDS=c.1787C>T;AA=p.P596L;CNT=1 +7 55233037 COSM191988 C T . . GENE=EGFR_ENST00000344576;STRAND=+;CDS=c.1787C>T;AA=p.P596L;CNT=1 +7 55233043 COSM21690 G T . . GENE=EGFR;STRAND=+;CDS=c.1793G>T;AA=p.G598V;CNT=1 +7 55233043 COSM1187304 G T . . GENE=EGFR_ENST00000344576;STRAND=+;CDS=c.1793G>T;AA=p.G598V;CNT=1 +7 55241677 COSM116882 G C . . GENE=EGFR;STRAND=+;CDS=c.2125G>C;AA=p.E709Q;CNT=1 +7 55241678 COSM51525 AAAC A . . GENE=EGFR;STRAND=+;CDS=c.2127_2129delAAC;AA=p.E709_T710>D;CNT=1 +7 55241699 COSM116797 A G . . GENE=EGFR;STRAND=+;CDS=c.2147A>G;AA=p.K716R;CNT=1 +7 55241708 COSM6239 G C . . GENE=EGFR;STRAND=+;CDS=c.2156G>C;AA=p.G719A;CNT=5 +7 55241711 COSM747426 C G . . GENE=EGFR;STRAND=+;CDS=c.2159C>G;AA=p.S720C;CNT=1 +7 55242454 COSM1090888 G A . . GENE=EGFR;STRAND=+;CDS=c.2224G>A;AA=p.V742I;CNT=1 +7 55242463 COSM1190791 AAGGAATTAAGAGAAG A . . GENE=EGFR;STRAND=+;CDS=c.2234_2248del15;AA=p.K745_A750>T;CNT=4 +7 55242464 COSM6223 AGGAATTAAGAGAAGC A . . GENE=EGFR;STRAND=+;CDS=c.2235_2249del15;AA=p.E746_A750delELREA;CNT=7 +7 55242465 COSM6225 GGAATTAAGAGAAGCA G . . GENE=EGFR;STRAND=+;CDS=c.2236_2250del15;AA=p.E746_A750delELREA;CNT=2 +7 55242465 COSM12728 GGAATTAAGAGAAGCAACA G . . GENE=EGFR;STRAND=+;CDS=c.2236_2253del18;AA=p.E746_T751delELREAT;CNT=2 +7 55242467 COSM6220 AATTAAGAGAAGCAACATC A . . GENE=EGFR;STRAND=+;CDS=c.2238_2255del18;AA=p.E746_S752>D;CNT=1 +7 55242467 COSM392194 AATTAAGAGAAGCAAC A . . GENE=EGFR;STRAND=+;CDS=c.2238_2252del15;AA=p.L747_T751delLREAT;CNT=1 +7 55242468 COSM6255 ATTAAGAGAAGCAACATCT A . . GENE=EGFR;STRAND=+;CDS=c.2239_2256del18;AA=p.L747_S752delLREATS;CNT=1 +7 55242470 COSM26704 T C . . GENE=EGFR;STRAND=+;CDS=c.2240T>C;AA=p.L747S;CNT=1 +7 55242489 COSM601575 G T . . GENE=EGFR;STRAND=+;CDS=c.2259G>T;AA=p.P753P;CNT=1 +7 55248998 COSM392166 A AN . . GENE=EGFR;STRAND=+;CDS=c.2296_2297insTGGCCAGCG;AA=p.V769_D770insASV;CNT=1 +7 55249005 COSM6241 G T . . GENE=EGFR;STRAND=+;CDS=c.2303G>T;AA=p.S768I;CNT=3 +7 55249005 COSM291998 G C . . GENE=EGFR;STRAND=+;CDS=c.2303G>C;AA=p.S768T;CNT=1 +7 55249007 COSM6242 G T . . GENE=EGFR;STRAND=+;CDS=c.2305G>T;AA=p.V769L;CNT=1 +7 55249017 COSM115794 C G . . GENE=EGFR;STRAND=+;CDS=c.2315C>G;AA=p.P772R;CNT=1 +7 55249017 COSM404810 C CN . . GENE=EGFR;STRAND=+;CDS=c.2315_2316insCCACGT;AA=p.V774_C775insHV;CNT=1 +7 55249029 COSM22940 G A . . GENE=EGFR;STRAND=+;CDS=c.2327G>A;AA=p.R776H;CNT=1 +7 55249071 COSM6240 C T . . GENE=EGFR;STRAND=+;CDS=c.2369C>T;AA=p.T790M;CNT=2 +7 55249083 COSM244213 C A . . GENE=EGFR;STRAND=+;CDS=c.2381C>A;AA=p.P794H;CNT=1 +7 55249108 COSM747425 CCG CAT . . GENE=EGFR;STRAND=+;CDS=c.2407_2408CG>AT;AA=p.R803M;CNT=1 +7 55249116 COSM485464 A G . . GENE=EGFR;STRAND=+;CDS=c.2414A>G;AA=p.H805R;CNT=1 +7 55249134 COSM1187305 C T . . GENE=EGFR;STRAND=+;CDS=c.2432C>T;AA=p.S811F;CNT=1 +7 55259501 COSM53231 C T . . GENE=EGFR;STRAND=+;CDS=c.2559C>T;AA=p.I853I;CNT=1 +7 55259512 COSM370916 G T . . GENE=EGFR;STRAND=+;CDS=c.2570G>T;AA=p.G857V;CNT=1 +7 55259515 COSM6224 T G . . GENE=EGFR;STRAND=+;CDS=c.2573T>G;AA=p.L858R;CNT=30 +7 55259524 COSM6213 T A . . GENE=EGFR;STRAND=+;CDS=c.2582T>A;AA=p.L861Q;CNT=5 +7 116339711 COSM201897 G A . . GENE=MET;STRAND=+;CDS=c.573G>A;AA=p.R191R;CNT=1 +7 116339714 COSM1214926 C A . . GENE=MET;STRAND=+;CDS=c.576C>A;AA=p.F192L;CNT=1 +7 116339746 COSM282765 C A . . GENE=MET;STRAND=+;CDS=c.608C>A;AA=p.S203Y;CNT=1 +7 116339776 COSM257403 C T . . GENE=MET;STRAND=+;CDS=c.638C>T;AA=p.S213L;CNT=1 +7 116340287 COSM744049 G T . . GENE=MET;STRAND=+;CDS=c.1149G>T;AA=p.V383V;CNT=1 +7 116412023 COSM339515 A T . . GENE=MET;STRAND=+;CDS=c.3062A>T;AA=p.Y1021F;CNT=1 +7 116412024 COSM598583 C G . . GENE=MET;STRAND=+;CDS=c.3063C>G;AA=p.Y1021*;CNT=1 +7 116412044 COSM88794 G T . . GENE=MET;STRAND=+;CDS=c.3082+1G>T;AA=p.?;CNT=1 +7 116412045 COSM35468 T C . . GENE=MET;STRAND=+;CDS=c.3082+2T>C;AA=p.?;CNT=1 +7 116412046 COSM744044 A G . . GENE=MET;STRAND=+;CDS=c.3082+3A>G;AA=p.?;CNT=1 +7 116417442 COSM598582 G T . . GENE=MET;STRAND=+;CDS=c.3314-1G>T;AA=p.?;CNT=1 +7 116417470 COSM744042 C G . . GENE=MET;STRAND=+;CDS=c.3341C>G;AA=p.T1114S;CNT=1 +7 116417479 COSM201908 A G . . GENE=MET;STRAND=+;CDS=c.3350A>G;AA=p.D1117G;CNT=1 +7 116417499 COSM697 C G . . GENE=MET;STRAND=+;CDS=c.3370C>G;AA=p.H1124D;CNT=1 +7 116417505 COSM1084409 G T . . GENE=MET;STRAND=+;CDS=c.3376G>T;AA=p.A1126S;CNT=1 +7 116423428 COSM598581 T C . . GENE=MET;STRAND=+;CDS=c.3757T>C;AA=p.Y1253H;CNT=1 +7 116423476 COSM1084413 G A . . GENE=MET;STRAND=+;CDS=c.3805G>A;AA=p.A1269T;CNT=1 +7 128845131 COSM744582 G T . . GENE=SMO;STRAND=+;CDS=c.625G>T;AA=p.D209Y;CNT=1 +7 128845134 COSM364081 G A . . GENE=SMO;STRAND=+;CDS=c.628G>A;AA=p.V210M;CNT=1 +7 128845209 COSM484808 G A . . GENE=SMO;STRAND=+;CDS=c.703G>A;AA=p.A235T;CNT=1 +7 128845210 COSM1226876 C T . . GENE=SMO;STRAND=+;CDS=c.704C>T;AA=p.A235V;CNT=1 +7 128845240 COSM248789 C G . . GENE=SMO;STRAND=+;CDS=c.734C>G;AA=p.T245R;CNT=1 +7 128846040 COSM13147 G A . . GENE=SMO;STRAND=+;CDS=c.970G>A;AA=p.A324T;CNT=1 +7 128846155 COSM599001 T G . . GENE=SMO;STRAND=+;CDS=c.1085T>G;AA=p.L362R;CNT=1 +7 128846367 COSM484809 G T . . GENE=SMO;STRAND=+;CDS=c.1203G>T;AA=p.A401A;CNT=2 +7 128846398 COSM216037 C T . . GENE=SMO;STRAND=+;CDS=c.1234C>T;AA=p.L412F;CNT=2 +7 128846405 COSM599000 T C . . GENE=SMO;STRAND=+;CDS=c.1241T>C;AA=p.V414A;CNT=1 +7 128846427 COSM373306 A T . . GENE=SMO;STRAND=+;CDS=c.1263A>T;AA=p.R421R;CNT=1 +7 128850360 COSM1085436 G A . . GENE=SMO;STRAND=+;CDS=c.1623G>A;AA=p.T541T;CNT=1 +7 128850377 COSM598998 G T . . GENE=SMO;STRAND=+;CDS=c.1640G>T;AA=p.R547L;CNT=1 +7 128851599 COSM598997 G T . . GENE=SMO;STRAND=+;CDS=c.1924G>T;AA=p.V642L;CNT=1 +7 140453096 COSM599336 C A . . GENE=BRAF;STRAND=-;CDS=c.1839G>T;AA=p.L613F;CNT=1 +7 140453108 COSM745347 C A . . GENE=BRAF;STRAND=-;CDS=c.1827G>T;AA=p.Q609H;CNT=1 +7 140453132 COSM6265 T A . . GENE=BRAF;STRAND=-;CDS=c.1803A>T;AA=p.K601N;CNT=2 +7 140453134 COSM478 T C . . GENE=BRAF;STRAND=-;CDS=c.1801A>G;AA=p.K601E;CNT=5 +7 140453134 COSM475 TCA TTT . . GENE=BRAF;STRAND=-;CDS=c.1799_1800TG>AA;AA=p.V600E;CNT=1 +7 140453136 COSM476 A T . . GENE=BRAF;STRAND=-;CDS=c.1799T>A;AA=p.V600E;CNT=127 +7 140453145 COSM471 A C . . GENE=BRAF;STRAND=-;CDS=c.1790T>G;AA=p.L597R;CNT=2 +7 140453154 COSM467 T C . . GENE=BRAF;STRAND=-;CDS=c.1781A>G;AA=p.D594G;CNT=1 +7 140453155 COSM144576 C G . . GENE=BRAF;STRAND=-;CDS=c.1780G>C;AA=p.D594H;CNT=1 +7 140453155 COSM27639 C T . . GENE=BRAF;STRAND=-;CDS=c.1780G>A;AA=p.D594N;CNT=1 +7 140453158 COSM231846 C T . . GENE=BRAF;STRAND=-;CDS=c.1777G>A;AA=p.G593S;CNT=1 +7 140453193 COSM462 T C . . GENE=BRAF;STRAND=-;CDS=c.1742A>G;AA=p.N581S;CNT=4 +7 140481397 COSM1158381 C T . . GENE=BRAF;STRAND=-;CDS=c.1411G>A;AA=p.V471I;CNT=1 +7 140481401 COSM347662 TCC TAG . . GENE=BRAF;STRAND=-;CDS=c.1405_1406GG>CT;AA=p.G469>?;CNT=1 +7 140481402 COSM459 C A . . GENE=BRAF;STRAND=-;CDS=c.1406G>T;AA=p.G469V;CNT=3 +7 140481403 COSM457 C T . . GENE=BRAF;STRAND=-;CDS=c.1405G>A;AA=p.G469R;CNT=2 +7 140481408 COSM27911 G A . . GENE=BRAF;STRAND=-;CDS=c.1400C>T;AA=p.S467L;CNT=1 +7 140481411 COSM453 C T . . GENE=BRAF;STRAND=-;CDS=c.1397G>A;AA=p.G466E;CNT=2 +7 140481411 COSM451 C A . . GENE=BRAF;STRAND=-;CDS=c.1397G>T;AA=p.G466V;CNT=3 +7 140481417 COSM450 C A . . GENE=BRAF;STRAND=-;CDS=c.1391G>T;AA=p.G464V;CNT=1 +7 140481423 COSM1086264 C T . . GENE=BRAF;STRAND=-;CDS=c.1385G>A;AA=p.R462K;CNT=1 +7 140481459 COSM378503 C A . . GENE=BRAF;STRAND=-;CDS=c.1349G>T;AA=p.W450L;CNT=1 +8 38282201 COSM334850 C A . . GENE=Q7Z2S2_HUMAN;STRAND=-;CDS=c.762G>T;AA=p.R254R;CNT=1 +8 38282201 COSM334853 C A . . GENE=FGFR1_ENST00000447712;STRAND=-;CDS=c.762G>T;AA=p.R254R;CNT=1 +8 38282201 COSM334852 C A . . GENE=FGFR1;STRAND=-;CDS=c.762G>T;AA=p.R254R;CNT=1 +8 38282201 COSM334851 C A . . GENE=FGFR1_ENST00000425967;STRAND=-;CDS=c.495G>T;AA=p.R165R;CNT=1 +8 38285938 COSM601 G A . . GENE=FGFR1;STRAND=-;CDS=c.374C>T;AA=p.S125L;CNT=1 +9 21971123 COSM13974 T TT . . GENE=CDKN2A;STRAND=-;CDS=c.234_235insA;AA=p.T79fs*41;CNT=1 +9 21971123 COSM1191044 T TT . . GENE=CDKN2A_ENST00000446177;STRAND=-;CDS=c.234_235insA;AA=p.T79fs*41;CNT=1 +9 21971123 COSM1191043 T TT . . GENE=CDKN2A_ENST00000361570;STRAND=-;CDS=c.400_401insA;AA=p.H134fs*>41;CNT=1 +9 21971123 COSM12518 TGA T . . GENE=CDKN2A;STRAND=-;CDS=c.233_234delTC;AA=p.L78fs*41;CNT=1 +9 21971123 COSM128615 TGA T . . GENE=CDKN2A_ENST00000361570;STRAND=-;CDS=c.399_400delTC;AA=p.H134fs*>40;CNT=1 +9 21971123 COSM128616 TGA T . . GENE=CDKN2A_ENST00000446177;STRAND=-;CDS=c.233_234delTC;AA=p.L78fs*41;CNT=1 +9 21971132 COSM13712 C T . . GENE=CDKN2A;STRAND=-;CDS=c.226G>A;AA=p.A76T;CNT=1 +9 21971132 COSM1200602 C T . . GENE=CDKN2A_ENST00000446177;STRAND=-;CDS=c.226G>A;AA=p.A76T;CNT=1 +9 21971132 COSM1200601 C T . . GENE=CDKN2A_ENST00000361570;STRAND=-;CDS=c.392G>A;AA=p.R131H;CNT=1 +9 21971140 COSM608438 G T . . GENE=CDKN2A_ENST00000361570;STRAND=-;CDS=c.384C>A;AA=p.R128R;CNT=1 +9 21971140 COSM608440 G T . . GENE=CDKN2A;STRAND=-;CDS=c.218C>A;AA=p.A73D;CNT=1 +9 21971140 COSM608439 G T . . GENE=CDKN2A_ENST00000446177;STRAND=-;CDS=c.218C>A;AA=p.A73D;CNT=1 +9 21971146 COSM85564 TTGGGCTCCGCGCCGTGGAGCAGCAG T . . GENE=CDKN2A;STRAND=-;CDS=c.187_211del25;AA=p.L63fs*75;CNT=1 +9 21971150 COSM85563 GCTCCGCGCCGTGGAGCAGCAGCAGCT G . . GENE=CDKN2A;STRAND=-;CDS=c.182_207del26;AA=p.E61fs*50;CNT=1 +9 21971153 COSM13592 CCG C . . GENE=CDKN2A;STRAND=-;CDS=c.203_204delCG;AA=p.A68fs*51;CNT=2 +9 21971153 COSM1167575 CCG C . . GENE=CDKN2A_ENST00000361570;STRAND=-;CDS=c.369_370delCG;AA=p.G124fs*>50;CNT=1 +9 21971153 COSM1167576 CCG C . . GENE=CDKN2A_ENST00000446177;STRAND=-;CDS=c.203_204delCG;AA=p.A68fs*51;CNT=1 +9 21971153 COSM41693 CCG C . . GENE=CDKN2a(p14);STRAND=-;CDS=c.369_370delCG;AA=p.G124fs*51;CNT=1 +9 21971158 COSM1107902 C T . . GENE=CDKN2A;STRAND=-;CDS=c.200G>A;AA=p.G67D;CNT=1 +9 21971158 COSM1107901 C T . . GENE=CDKN2A_ENST00000446177;STRAND=-;CDS=c.200G>A;AA=p.G67D;CNT=1 +9 21971158 COSM1107900 C T . . GENE=CDKN2A_ENST00000361570;STRAND=-;CDS=c.366G>A;AA=p.R122R;CNT=1 +9 21971185 COSM12731 CGG CAA . . GENE=CDKN2A;STRAND=-;CDS=c.171_172CC>TT;AA=p.R58*;CNT=1 +9 21971185 COSM142989 CGG CAA . . GENE=CDKN2A_ENST00000361570;STRAND=-;CDS=c.337_338CC>TT;AA=p.P113L;CNT=1 +9 21971185 COSM142990 CGG CAA . . GENE=CDKN2A_ENST00000446177;STRAND=-;CDS=c.171_172CC>TT;AA=p.R58*;CNT=1 +9 21971185 COSM231506 CG C . . GENE=CDKN2A;STRAND=-;CDS=c.172delC;AA=p.R58fs*88;CNT=2 +9 21971185 COSM231507 CG C . . GENE=CDKN2A_ENST00000361570;STRAND=-;CDS=c.338delC;AA=p.P113fs*>61;CNT=2 +9 21971185 COSM231508 CG C . . GENE=CDKN2A_ENST00000446177;STRAND=-;CDS=c.172delC;AA=p.R58fs*88;CNT=2 +9 21971186 COSM99731 G A . . GENE=CDKN2A_ENST00000446177;STRAND=-;CDS=c.172C>T;AA=p.R58*;CNT=3 +9 21971186 COSM12473 G A . . GENE=CDKN2A;STRAND=-;CDS=c.172C>T;AA=p.R58*;CNT=3 +9 21971186 COSM99730 G A . . GENE=CDKN2A_ENST00000361570;STRAND=-;CDS=c.338C>T;AA=p.P113L;CNT=3 +9 21971189 COSM310018 C T . . GENE=CDKN2A_ENST00000361570;STRAND=-;CDS=c.335G>A;AA=p.R112H;CNT=1 +9 21971189 COSM310017 C T . . GENE=CDKN2A;STRAND=-;CDS=c.169G>A;AA=p.A57T;CNT=1 +9 21971189 COSM310019 C T . . GENE=CDKN2A_ENST00000446177;STRAND=-;CDS=c.169G>A;AA=p.A57T;CNT=1 +9 21971189 COSM110663 C CC . . GENE=CDKN2A_ENST00000361570;STRAND=-;CDS=c.334_335insG;AA=p.S114fs*>61;CNT=1 +9 21971189 COSM110662 C CC . . GENE=CDKN2A;STRAND=-;CDS=c.168_169insG;AA=p.A57fs*63;CNT=1 +9 21971189 COSM110664 C CC . . GENE=CDKN2A_ENST00000446177;STRAND=-;CDS=c.168_169insG;AA=p.A57fs*63;CNT=1 +9 21971199 COSM753727 C G . . GENE=CDKN2A_ENST00000361570;STRAND=-;CDS=c.325G>C;AA=p.D109H;CNT=1 +9 21971199 COSM753729 C G . . GENE=CDKN2A;STRAND=-;CDS=c.159G>C;AA=p.M53I;CNT=1 +9 21971199 COSM753728 C G . . GENE=CDKN2A_ENST00000446177;STRAND=-;CDS=c.159G>C;AA=p.M53I;CNT=1 +9 21971203 COSM608435 A C . . GENE=CDKN2A_ENST00000361570;STRAND=-;CDS=c.321T>G;AA=p.H107Q;CNT=2 +9 21971203 COSM608436 A C . . GENE=CDKN2A_ENST00000446177;STRAND=-;CDS=c.155T>G;AA=p.M52R;CNT=2 +9 21971203 COSM608437 A C . . GENE=CDKN2A;STRAND=-;CDS=c.155T>G;AA=p.M52R;CNT=2 +9 21971203 COSM1173508 A AA . . GENE=CDKN2A_ENST00000446177;STRAND=-;CDS=c.154_155insT;AA=p.M52fs*68;CNT=1 +9 21971203 COSM1173507 A AA . . GENE=CDKN2A_ENST00000361570;STRAND=-;CDS=c.320_321insT;AA=p.D108fs*1;CNT=1 +9 21971203 COSM1173509 A AA . . GENE=CDKN2A;STRAND=-;CDS=c.154_155insT;AA=p.M52fs*68;CNT=1 +9 21971208 COSM363012 C A . . GENE=CDKN2A_ENST00000361570;STRAND=-;CDS=c.317-1G>T;AA=p.?;CNT=1 +9 21971208 COSM127094 C T . . GENE=CDKN2A_ENST00000361570;STRAND=-;CDS=c.317-1G>A;AA=p.?;CNT=1 +9 21971208 COSM13223 C T . . GENE=CDKN2A;STRAND=-;CDS=c.151-1G>A;AA=p.?;CNT=1 +9 21971208 COSM363013 C A . . GENE=CDKN2A_ENST00000446177;STRAND=-;CDS=c.151-1G>T;AA=p.?;CNT=1 +9 21971208 COSM127095 C T . . GENE=CDKN2A_ENST00000446177;STRAND=-;CDS=c.151-1G>A;AA=p.?;CNT=1 +9 21971208 COSM12537 C A . . GENE=CDKN2A;STRAND=-;CDS=c.151-1G>T;AA=p.?;CNT=1 +9 21971209 COSM608433 T A . . GENE=CDKN2A_ENST00000361570;STRAND=-;CDS=c.317-2A>T;AA=p.?;CNT=1 +9 21971209 COSM13222 T A . . GENE=CDKN2A;STRAND=-;CDS=c.151-2A>T;AA=p.?;CNT=1 +9 21971209 COSM608434 T A . . GENE=CDKN2A_ENST00000446177;STRAND=-;CDS=c.151-2A>T;AA=p.?;CNT=1 +9 80336317 COSM1110323 G A . . GENE=GNAQ;STRAND=-;CDS=c.1002C>T;AA=p.T334T;CNT=1 +9 80336345 COSM123394 T A . . GENE=GNAQ;STRAND=-;CDS=c.974A>T;AA=p.Y325F;CNT=1 +9 80336376 COSM384149 C T . . GENE=GNAQ;STRAND=-;CDS=c.943G>A;AA=p.D315N;CNT=1 +9 80336400 COSM170856 C A . . GENE=GNAQ;STRAND=-;CDS=c.919G>T;AA=p.E307*;CNT=1 +9 80343574 COSM77782 C T . . GENE=GNAQ;STRAND=-;CDS=c.745G>A;AA=p.E249K;CNT=1 +9 80343579 COSM354690 C A . . GENE=GNAQ;STRAND=-;CDS=c.740G>T;AA=p.R247L;CNT=1 +9 80409421 COSM1110325 C T . . GENE=GNAQ;STRAND=-;CDS=c.693G>A;AA=p.A231A;CNT=1 +9 80409502 COSM1110326 G A . . GENE=GNAQ;STRAND=-;CDS=c.612C>T;AA=p.V204V;CNT=1 +9 80412494 COSM281411 G A . . GENE=GNAQ;STRAND=-;CDS=c.547C>T;AA=p.R183*;CNT=1 +9 80412499 COSM292645 C G . . GENE=GNAQ;STRAND=-;CDS=c.542G>C;AA=p.R181T;CNT=1 +9 133738351 COSM383613 G T . . GENE=ABL1;STRAND=+;CDS=c.751G>T;AA=p.G251C;CNT=1 +9 133748333 COSM1176546 C T . . GENE=ABL1;STRAND=+;CDS=c.994C>T;AA=p.R332W;CNT=1 +9 133750337 COSM1181443 G T . . GENE=ABL1;STRAND=+;CDS=c.1168G>T;AA=p.G390W;CNT=2 +9 133750392 COSM364137 C T . . GENE=ABL1;STRAND=+;CDS=c.1223C>T;AA=p.P408L;CNT=1 +9 139397773 COSM462420 G A . . GENE=NOTCH1_ENST00000277541;STRAND=-;CDS=c.5028C>T;AA=p.V1676V;CNT=1 +9 139397773 COSM462421 G A . . GENE=NOTCH1;STRAND=-;CDS=c.5028C>T;AA=p.V1676V;CNT=1 +9 139399350 COSM13053 C G . . GENE=NOTCH1;STRAND=-;CDS=c.4793G>C;AA=p.R1598P;CNT=1 +9 139399350 COSM305943 C G . . GENE=NOTCH1_ENST00000277541;STRAND=-;CDS=c.4793G>C;AA=p.R1598P;CNT=1 +9 139399362 COSM136758 C T . . GENE=NOTCH1_ENST00000277541;STRAND=-;CDS=c.4781G>A;AA=p.R1594Q;CNT=1 +9 139399362 COSM136759 C T . . GENE=NOTCH1;STRAND=-;CDS=c.4781G>A;AA=p.R1594Q;CNT=1 diff -r e7de191375e6 -r 73eda23fb8fd falco/ref/filters/CosmicNonCodingVariants_v64_26032013_noLimit_wgs.f.vcf --- /dev/null Thu Jan 01 00:00:00 1970 +0000 +++ b/falco/ref/filters/CosmicNonCodingVariants_v64_26032013_noLimit_wgs.f.vcf Wed Feb 25 08:50:56 2015 -0500 @@ -0,0 +1,52 @@ +##fileformat=VCFv4.1 +##source=COSMICv64 +##reference=GRCh37 +##fileDate=20130327 +##comment="Missing nucleotide details indicate ambiguity during curation process" +##comment="URL stub for COSM ID field='http://www.sanger.ac.uk/cgi-bin/genetics/CGP/directive?id='" +##comment="REF and ALT sequences are both forward strand +##INFO= +##INFO= +##INFO= +##INFO= +##INFO= +#CHROM POS ID REF ALT QUAL FILTER INFO +1 115258837 COSN414678 C A . . . +1 115258837 COSN414677 C A . . . +1 115258839 COSN414680 T C . . . +1 115258839 COSN414679 T C . . . +10 43613962 COSN424480 C A . . GENE=RET;STRAND=+ +10 43617488 COSN424483 G T . . GENE=RET;STRAND=+ +10 89720899 COSN425590 G T . . GENE=PTEN;STRAND=+ +13 48955592 COSN215086 A C . . GENE=RB1;STRAND=+ +13 49027259 COSN434910 A G . . GENE=RB1_ENST00000267163;STRAND=+ +17 7578359 COSN504283 C T . . GENE=TP53;STRAND=- +19 3118848 COSN449010 T G . . GENE=GNA11;STRAND=+ +19 3121198 COSN498712 G A . . . +2 132181403 COSN452344 G C . . . +2 212589935 COSN214321 A G . . GENE=ERBB4;STRAND=- +22 17052984 COSN460731 A G . . . +22 17055427 COSN166685 G T . . . +22 24143286 COSN169414 C T . . GENE=SMARCB1;STRAND=+ +4 55593344 COSN467850 C A . . GENE=KIT;STRAND=+ +4 55593517 COSN467851 G C . . GENE=KIT;STRAND=+ +4 55599403 COSN467856 G T . . GENE=KIT;STRAND=+ +4 55973071 COSN467867 T A . . GENE=KDR;STRAND=- +4 55980471 COSN167219 C A . . GENE=KDR;STRAND=- +5 149453163 COSN470115 C A . . GENE=CSF1R;STRAND=- +5 149453163 COSN470116 C A . . GENE=CSF1R;STRAND=- +7 55211207 COSN479937 G C . . GENE=EGFR;STRAND=+ +7 65970233 COSN480663 G T . . . +7 65970320 COSN480664 G A . . . +7 65970329 COSN480666 G T . . . +7 65970329 COSN480665 G T . . . +7 116340357 COSN476961 C A . . GENE=MET;STRAND=+ +7 128851663 COSN477274 G A . . GENE=SMO;STRAND=+ +9 33675634 COSN486051 G T . . . +9 33675675 COSN232514 A N . . . +9 33675970 COSN232057 G N . . . +9 33676082 COSN486052 G A . . . +9 33676271 COSN486053 C T . . . +9 33676373 COSN486054 G T . . . +9 33676393 COSN486055 G A . . . +9 80336213 COSN502865 G A . . . diff -r e7de191375e6 -r 73eda23fb8fd falco/ref/filters/clinvar_00-latest.f.vcf --- /dev/null Thu Jan 01 00:00:00 1970 +0000 +++ b/falco/ref/filters/clinvar_00-latest.f.vcf Wed Feb 25 08:50:56 2015 -0500 @@ -0,0 +1,593 @@ +##fileformat=VCFv4.0 +##fileStatus=!!!! This is a provisional file !!!! +##fileDate=20121105 +##source=dbSNP +##dbSNP_BUILD_ID=137 +##reference=GRCh37.p5 +##phasing=partial +##variationPropertyDocumentationUrl=ftp://ftp.ncbi.nlm.nih.gov/snp/specs/dbSNP_BitField_latest.pdf +##INFO= +##INFO= +##INFO= +##INFO= +##INFO= +##INFO= +##INFO= +##INFO= +##INFO= +##INFO= +##INFO= +##INFO= +##INFO= +##INFO= +##INFO=SubSNP->Batch.link_out"> +##INFO= +##INFO= +##INFO= +##INFO= +##INFO= +##INFO= +##INFO= +##INFO= +##INFO= +##INFO= +##INFO= +##INFO= +##INFO= +##INFO= +##INFO= +##INFO= +##INFO= +##INFO=5% minor allele frequency in each and all populations"> +##INFO=5% minor allele frequency in 1+ populations"> +##INFO= +##INFO= +##INFO= +##INFO= +##INFO= +##INFO= +##INFO= +##INFO= +##INFO= +##INFO= +##INFO= +##INFO= +##INFO= +##INFO= +##INFO= +##INFO= +##FILTER= +##INFO= +##INFO= +##INFO= +##INFO= +##INFO= +##INFO= +##INFO= +##INFO= +##INFO= +##INFO= +#CHROM POS ID REF ALT QUAL FILTER INFO +1 43815007 rs121913616 GTG GAA . . RSPOS=43815008;dbSNPBuildID=133;SSR=0;SAO=1;VP=050060000a01000002110800;GENEINFO=MPL:4352;WGT=1;VC=MNV;PM;NSM;REF;OTHERKG;LSD;OM;CLNALLE=1;CLNHGVS=NC_000001.10:g.43815008_43815009delinsAA;CLNSRC=OMIM Allelic Variant;CLNORIGIN=1;CLNSRCID=159530.0012;CLNSIG=255;CLNDSDB=.;CLNDSDBID=.;CLNDBN=Myelofibrosis with myeloid metaplasia\x2c somatic;CLNACC=RCV000015228.1 +1 43815009 rs121913615 G T . . RSPOS=43815009;dbSNPBuildID=133;SSR=0;SAO=1;VP=050060000a01000002110100;GENEINFO=MPL:4352;WGT=1;VC=SNV;PM;NSM;REF;OTHERKG;LSD;OM;CLNALLE=1;CLNHGVS=NC_000001.10:g.43815009G>T;CLNSRC=OMIM Allelic Variant;CLNORIGIN=1;CLNSRCID=159530.0011;CLNSIG=255|255;CLNDSDB=.|.;CLNDSDBID=.|.;CLNDBN=Myelofibrosis with myeloid metaplasia\x2c somatic|THROMBOCYTHEMIA 2\x2c SOMATIC;CLNACC=RCV000015227.1|RCV000022668.1 +1 115256528 rs121913255 T A . . RSPOS=115256528;RV;dbSNPBuildID=133;SSR=0;SAO=3;VP=050260000a01000002100120;GENEINFO=NRAS:4893;WGT=1;VC=SNV;PM;S3D;NSM;REF;OTHERKG;LSD;CLNALLE=1;CLNHGVS=NC_000001.10:g.115256528T>A;CLNSRC=.;CLNORIGIN=2;CLNSRCID=.;CLNSIG=255;CLNDSDB=.;CLNDSDBID=.;CLNDBN=.;CLNACC=. +1 115256529 rs11554290 T A,C,G . . RSPOS=115256529;RV;dbSNPBuildID=120;SSR=0;SAO=3;VP=050360000a01000103110124;GENEINFO=NRAS:4893;WGT=1;VC=SNV;PM;S3D;SLO;NSM;REF;GNO;OTHERKG;PH3;LSD;OM;NOV;CLNALLE=1,2,3;CLNHGVS=NC_000001.10:g.115256529T>A,NC_000001.10:g.115256529T>C,NC_000001.10:g.115256529T>G;CLNSRC=.,OMIM Allelic Variant,.;CLNORIGIN=2,1,2;CLNSRCID=.,164790.0002,.;CLNSIG=255,255,255;CLNDSDB=.,.,.;CLNDSDBID=.,.,.;CLNDBN=.,Thyroid carcinoma\x2c follicular\x2c somatic,.;CLNACC=.,RCV000014914.1,. +1 115256532 rs267606920 C T . . RSPOS=115256532;RV;dbSNPBuildID=136;SSR=0;SAO=0;VP=050060000a01000002110100;GENEINFO=NRAS:4893;WGT=1;VC=SNV;PM;NSM;REF;OTHERKG;LSD;OM;CLNALLE=1;CLNHGVS=NC_000001.10:g.115256532C>T;CLNSRC=OMIM Allelic Variant;CLNORIGIN=.;CLNSRCID=164790.0005;CLNSIG=5;CLNDSDB=GeneReviews:NCBI:OMIM:Orphanet;CLNDSDBID=NBK1124:C2750732:613224:648;CLNDBN=Noonan syndrome 6;CLNACC=RCV000014917.1 +1 115256562 rs267606921 G A . . RSPOS=115256562;RV;dbSNPBuildID=136;SSR=0;SAO=0;VP=050060000a01000002110100;GENEINFO=NRAS:4893;WGT=1;VC=SNV;PM;NSM;REF;OTHERKG;LSD;OM;CLNALLE=1;CLNHGVS=NC_000001.10:g.115256562G>A;CLNSRC=OMIM Allelic Variant;CLNORIGIN=.;CLNSRCID=164790.0004;CLNSIG=5;CLNDSDB=GeneReviews:NCBI:OMIM:Orphanet;CLNDSDBID=NBK1124:C2750732:613224:648;CLNDBN=Noonan syndrome 6;CLNACC=RCV000014916.1 +1 115258730 rs121913248 C G,T . . RSPOS=115258730;RV;GMAF=0.0005;dbSNPBuildID=133;SSR=0;SAO=3;VP=050260000a01000016100120;GENEINFO=NRAS:4893;WGT=1;VC=SNV;PM;S3D;NSM;REF;KGPhase1;KGPROD;OTHERKG;LSD;CLNALLE=2;CLNHGVS=NC_000001.10:g.115258730C>T;CLNSRC=.;CLNORIGIN=2;CLNSRCID=.;CLNSIG=255;CLNDSDB=.;CLNDSDBID=.;CLNDBN=.;CLNACC=. +1 115258744 rs121434596 C A,G,T . . RSPOS=115258744;RV;dbSNPBuildID=132;SSR=0;SAO=3;VP=050260000a01000002110124;GENEINFO=NRAS:4893;WGT=1;VC=SNV;PM;S3D;NSM;REF;OTHERKG;LSD;OM;NOV;CLNALLE=1,2,3;CLNHGVS=NC_000001.10:g.115258744C>A,NC_000001.10:g.115258744C>G,NC_000001.10:g.115258744C>T;CLNSRC=.,.,OMIM Allelic Variant;CLNORIGIN=2,2,2;CLNSRCID=.,.,164790.0003;CLNSIG=255,255,5|5|5;CLNDSDB=.,.,NCBI:OMIM:Orphanet|NCBI:OMIM:Orphanet|GeneReviews:NCBI:OMIM:Orphanet;CLNDSDBID=.,.,CN069957:614470:3261|C0349639:607785:86834|NBK1124:C2750732:613224:648;CLNDBN=.,.,AUTOIMMUNE LYMPHOPROLIFERATIVE SYNDROME\x2c TYPE IV|Juvenile myelomonocytic leukemia|Noonan syndrome 6;CLNACC=.,.,RCV000014915.1|RCV000022689.1|RCV000022690.1 +1 115258745 rs121434595 C A,G,T . . RSPOS=115258745;RV;dbSNPBuildID=132;SSR=0;SAO=3;VP=050260000a01000002110124;GENEINFO=NRAS:4893;WGT=1;VC=SNV;PM;S3D;NSM;REF;OTHERKG;LSD;OM;NOV;CLNALLE=1,2,3;CLNHGVS=NC_000001.10:g.115258745C>A,NC_000001.10:g.115258745C>G,NC_000001.10:g.115258745C>T;CLNSRC=.,OMIM Allelic Variant,.;CLNORIGIN=2,2,2;CLNSRCID=.,164790.0001,.;CLNSIG=255,255,255;CLNDSDB=.,.,.;CLNDSDBID=.,.,.;CLNDBN=.,Rectal cancer\x2c somatic,.;CLNACC=.,RCV000014913.1,. +1 115258747 rs121913237 C A,G,T . . RSPOS=115258747;RV;dbSNPBuildID=133;SSR=0;SAO=3;VP=050260000a01000002100124;GENEINFO=NRAS:4893;WGT=1;VC=SNV;PM;S3D;NSM;REF;OTHERKG;LSD;NOV;CLNALLE=1,2,3;CLNHGVS=NC_000001.10:g.115258747C>A,NC_000001.10:g.115258747C>G,NC_000001.10:g.115258747C>T;CLNSRC=.,.,.;CLNORIGIN=2,2,2;CLNSRCID=.,.,.;CLNSIG=255,255,255;CLNDSDB=.,.,.;CLNDSDBID=.,.,.;CLNDBN=.,.,.;CLNACC=.,.,. +1 115258748 rs121913250 C A,G,T . . RSPOS=115258748;RV;dbSNPBuildID=133;SSR=0;SAO=3;VP=050260000a01000002100124;GENEINFO=NRAS:4893;WGT=1;VC=SNV;PM;S3D;NSM;REF;OTHERKG;LSD;NOV;CLNALLE=1,2,3;CLNHGVS=NC_000001.10:g.115258748C>A,NC_000001.10:g.115258748C>G,NC_000001.10:g.115258748C>T;CLNSRC=.,.,.;CLNORIGIN=2,2,2;CLNSRCID=.,.,.;CLNSIG=255,255,255;CLNDSDB=.,.,.;CLNDSDBID=.,.,.;CLNDBN=.,.,.;CLNACC=.,.,. +2 29432664 rs113994087 C T . . RSPOS=29432664;RV;dbSNPBuildID=132;SSR=0;SAO=1;VP=050360000a01000002110100;GENEINFO=ALK:238;WGT=1;VC=SNV;PM;S3D;SLO;NSM;REF;OTHERKG;LSD;OM;CLNALLE=1;CLNHGVS=NC_000002.11:g.29432664C>T;CLNSRC=GeneReviews|OMIM Allelic Variant;CLNORIGIN=1;CLNSRCID=NBK24599|105590.0001;CLNSIG=255;CLNDSDB=GeneReviews:NCBI:OMIM:Orphanet;CLNDSDBID=NBK24599:C2751681:613014:635;CLNDBN=Neuroblastoma 3;CLNACC=RCV000019709.1 +2 29432739 rs113994092 A G . . RSPOS=29432739;RV;dbSNPBuildID=132;SSR=0;SAO=0;VP=050360000a01000002110100;GENEINFO=ALK:238;WGT=1;VC=SNV;PM;S3D;SLO;NSM;REF;OTHERKG;LSD;OM;CLNALLE=1;CLNHGVS=NC_000002.11:g.29432739A>G;CLNSRC=GeneReviews;CLNORIGIN=.;CLNSRCID=NBK24599;CLNSIG=5;CLNDSDB=GeneReviews:NCBI:OMIM:Orphanet;CLNDSDBID=NBK24599:C2751681:613014:635;CLNDBN=Neuroblastoma 3;CLNACC=RCV000021080.1 +2 29443697 rs281864719 A C . . RSPOS=29443697;RV;dbSNPBuildID=136;SSR=0;SAO=0;VP=050160000a01000002110100;WGT=1;VC=SNV;PM;SLO;NSM;REF;OTHERKG;LSD;OM;CLNALLE=1;CLNHGVS=NC_000002.11:g.29443697A>C;CLNSRC=.;CLNORIGIN=.;CLNSRCID=.;CLNSIG=5;CLNDSDB=.;CLNDSDBID=.;CLNDBN=.;CLNACC=. +2 209113112 rs121913500 C T . . RSPOS=209113112;RV;dbSNPBuildID=133;SSR=0;SAO=3;VP=050260000a01000002100120;GENEINFO=IDH1:3417;WGT=1;VC=SNV;PM;S3D;NSM;REF;OTHERKG;LSD;CLNALLE=1;CLNHGVS=NC_000002.11:g.209113112C>T;CLNSRC=.;CLNORIGIN=2;CLNSRCID=.;CLNSIG=255;CLNDSDB=.;CLNDSDBID=.;CLNDBN=.;CLNACC=. +2 209113113 rs121913499 G A,T . . RSPOS=209113113;RV;dbSNPBuildID=133;SSR=0;SAO=3;VP=050260000a01000002100120;GENEINFO=IDH1:3417;WGT=1;VC=SNV;PM;S3D;NSM;REF;OTHERKG;LSD;CLNALLE=1,2;CLNHGVS=NC_000002.11:g.209113113G>A,NC_000002.11:g.209113113G>T;CLNSRC=.,.;CLNORIGIN=2,2;CLNSRCID=.,.;CLNSIG=255,255;CLNDSDB=.,.;CLNDSDBID=.,.;CLNDBN=.,.;CLNACC=.,. +2 212288940 rs147624110 C T . . RSPOS=212288940;dbSNPBuildID=134;SSR=0;SAO=3;VP=050068000a01000002100120;GENEINFO=ERBB4:2066;WGT=1;VC=SNV;PM;PMC;NSM;REF;OTHERKG;LSD;CLNALLE=1;CLNHGVS=NC_000002.11:g.212288940C>T;CLNSRC=.;CLNORIGIN=2;CLNSRCID=.;CLNSIG=255;CLNDSDB=.;CLNDSDBID=.;CLNDBN=.;CLNACC=. +2 212576877 rs148183215 G A . . RSPOS=212576877;dbSNPBuildID=134;SSR=0;SAO=3;VP=050268000a01000002100120;GENEINFO=ERBB4:2066;WGT=1;VC=SNV;PM;PMC;S3D;NSM;REF;OTHERKG;LSD;CLNALLE=1;CLNHGVS=NC_000002.11:g.212576877G>A;CLNSRC=.;CLNORIGIN=2;CLNSRCID=.;CLNSIG=255;CLNDSDB=.;CLNDSDBID=.;CLNDBN=.;CLNACC=. +3 10183773 rs193922608 C T . . RSPOS=10183773;dbSNPBuildID=136;SSR=0;SAO=1;VP=050268000a01000002100100;GENEINFO=VHL:7428;WGT=1;VC=SNV;PM;PMC;S3D;NSM;REF;OTHERKG;LSD;CLNALLE=1;CLNHGVS=NC_000003.11:g.10183773C>T;CLNSRC=.;CLNORIGIN=1;CLNSRCID=.;CLNSIG=4;CLNDSDB=.;CLNDSDBID=.;CLNDBN=.;CLNACC=. +3 10183781 rs5030827 G T . . RSPOS=10183781;dbSNPBuildID=113;SSR=0;SAO=1;VP=050360000a01000102110100;GENEINFO=VHL:7428;WGT=1;VC=SNV;PM;S3D;SLO;NSM;REF;GNO;OTHERKG;LSD;OM;CLNALLE=1;CLNHGVS=NC_000003.11:g.10183781G>T;CLNSRC=OMIM Allelic Variant;CLNORIGIN=1;CLNSRCID=608537.0025;CLNSIG=5;CLNDSDB=GeneReviews:NCBI:OMIM:Orphanet:SNOMED CT;CLNDSDBID=NBK1463:C0019562:193300:892:46659004;CLNDBN=Von Hippel-Lindau syndrome;CLNACC=RCV000002324.1 +3 10183785 rs5030828 T C . . RSPOS=10183785;dbSNPBuildID=113;SSR=0;SAO=3;VP=050360000a01000102100120;GENEINFO=VHL:7428;WGT=1;VC=SNV;PM;S3D;SLO;NSM;REF;GNO;OTHERKG;LSD;CLNALLE=1;CLNHGVS=NC_000003.11:g.10183785T>C;CLNSRC=.;CLNORIGIN=2;CLNSRCID=.;CLNSIG=255;CLNDSDB=.;CLNDSDBID=.;CLNDBN=.;CLNACC=. +3 10183794 rs119103277 G C . . RSPOS=10183794;dbSNPBuildID=132;SSR=0;SAO=1;VP=050260000a01000002110100;GENEINFO=VHL:7428;WGT=1;VC=SNV;PM;S3D;NSM;REF;OTHERKG;LSD;OM;CLNALLE=1;CLNHGVS=NC_000003.11:g.10183794G>C;CLNSRC=OMIM Allelic Variant;CLNORIGIN=1;CLNSRCID=608537.0007;CLNSIG=5|5;CLNDSDB=.|GeneReviews:NCBI:OMIM:Orphanet:SNOMED CT;CLNDSDBID=.|NBK1463:C0019562:193300:892:46659004;CLNDBN=Hemangioblastoma\x2c sporadic cerebellar|Von Hippel-Lindau syndrome;CLNACC=RCV000002305.1|RCV000002306.1 +3 10183797 rs5030807 T A,C . . RSPOS=10183797;dbSNPBuildID=113;SSR=0;SAO=3;VP=050360000a01000102100120;GENEINFO=VHL:7428;WGT=1;VC=SNV;PM;S3D;SLO;NSM;REF;GNO;OTHERKG;LSD;CLNALLE=1;CLNHGVS=NC_000003.11:g.10183797T>A;CLNSRC=.;CLNORIGIN=2;CLNSRCID=.;CLNSIG=255;CLNDSDB=.;CLNDSDBID=.;CLNDBN=.;CLNACC=. +3 10183808 rs5030808 G A,C . . RSPOS=10183808;dbSNPBuildID=113;SSR=0;SAO=1;VP=050360000a01000102110100;GENEINFO=VHL:7428;WGT=1;VC=SNV;PM;S3D;SLO;NSM;REF;GNO;OTHERKG;LSD;OM;CLNALLE=1;CLNHGVS=NC_000003.11:g.10183808G>A;CLNSRC=OMIM Allelic Variant;CLNORIGIN=1;CLNSRCID=608537.0026;CLNSIG=5;CLNDSDB=GeneReviews:NCBI:OMIM:Orphanet;CLNDSDBID=NBK1548:C0031511:171300:29072;CLNDBN=Pheochromocytoma;CLNACC=RCV000002325.1 +3 10183823 rs5030809 T C . . RSPOS=10183823;dbSNPBuildID=113;SSR=0;SAO=1;VP=050360000a01000102110100;GENEINFO=VHL:7428;WGT=1;VC=SNV;PM;S3D;SLO;NSM;REF;GNO;OTHERKG;LSD;OM;CLNALLE=1;CLNHGVS=NC_000003.11:g.10183823T>C;CLNSRC=OMIM Allelic Variant;CLNORIGIN=1;CLNSRCID=608537.0009;CLNSIG=5;CLNDSDB=GeneReviews:NCBI:OMIM:Orphanet:SNOMED CT;CLNDSDBID=NBK1463:C0019562:193300:892:46659004;CLNDBN=Von Hippel-Lindau syndrome;CLNACC=RCV000002309.1 +3 10183851 rs193922609 G C . . RSPOS=10183851;dbSNPBuildID=136;SSR=0;SAO=1;VP=050268000a01000002100100;GENEINFO=VHL:7428;WGT=1;VC=SNV;PM;PMC;S3D;NSM;REF;OTHERKG;LSD;CLNALLE=1;CLNHGVS=NC_000003.11:g.10183851G>C;CLNSRC=.;CLNORIGIN=1;CLNSRCID=.;CLNSIG=4;CLNDSDB=.;CLNDSDBID=.;CLNDBN=.;CLNACC=. +3 10183865 rs104893824 T A,C . . RSPOS=10183865;dbSNPBuildID=132;SSR=0;SAO=1;VP=050260000a01000002110100;GENEINFO=VHL:7428;WGT=1;VC=SNV;PM;S3D;NSM;REF;OTHERKG;LSD;OM;CLNALLE=1,2;CLNHGVS=NC_000003.11:g.10183865T>A,NC_000003.11:g.10183865T>C;CLNSRC=OMIM Allelic Variant,OMIM Allelic Variant;CLNORIGIN=1,1;CLNSRCID=608537.0017,608537.0012;CLNSIG=5,5;CLNDSDB=GeneReviews:NCBI:OMIM:Orphanet:SNOMED CT,GeneReviews:NCBI:OMIM:Orphanet:SNOMED CT;CLNDSDBID=NBK1463:C0019562:193300:892:46659004,NBK1463:C0019562:193300:892:46659004;CLNDBN=Von Hippel-Lindau syndrome,Von Hippel-Lindau syndrome;CLNACC=RCV000002316.1,RCV000002308.1 +3 10183876 rs61758376 G C . . RSPOS=10183876;GMAF=0.0073;dbSNPBuildID=129;SSR=0;SAO=1;VP=050068080001000016100100;GENEINFO=VHL:7428;WGT=1;VC=SNV;PM;PMC;INT;KGPhase1;KGPROD;OTHERKG;LSD;CLNALLE=1;CLNHGVS=NC_000003.11:g.10183876G>C;CLNSRC=.;CLNORIGIN=1;CLNSRCID=.;CLNSIG=0;CLNDSDB=.;CLNDSDBID=.;CLNDBN=.;CLNACC=. +3 10188228 rs193922610 C T . . RSPOS=10188228;dbSNPBuildID=136;SSR=0;SAO=1;VP=050268080a01000002100100;GENEINFO=VHL:7428;WGT=1;VC=SNV;PM;PMC;S3D;NSM;REF;INT;OTHERKG;LSD;CLNALLE=1;CLNHGVS=NC_000003.11:g.10188228C>T;CLNSRC=.;CLNORIGIN=1;CLNSRCID=.;CLNSIG=4;CLNDSDB=.;CLNDSDBID=.;CLNDBN=.;CLNACC=. +3 10188245 rs104893830 G C . . RSPOS=10188245;dbSNPBuildID=132;SSR=0;SAO=1;VP=050268080a01000002110100;GENEINFO=VHL:7428;WGT=1;VC=SNV;PM;PMC;S3D;NSM;REF;INT;OTHERKG;LSD;OM;CLNALLE=1;CLNHGVS=NC_000003.11:g.10188245G>C;CLNSRC=OMIM Allelic Variant;CLNORIGIN=1;CLNSRCID=608537.0021;CLNSIG=5|5;CLNDSDB=NCBI:OMIM:Orphanet|GeneReviews:NCBI:OMIM:Orphanet:SNOMED CT;CLNDSDBID=C1837915:263400:238557|NBK1463:C0019562:193300:892:46659004;CLNDBN=Erythrocytosis\x2c familial\x2c 2|Von Hippel-Lindau syndrome;CLNACC=RCV000002317.1|RCV000030586.1 +3 10188262 rs119103278 A C . . RSPOS=10188262;dbSNPBuildID=132;SSR=0;SAO=1;VP=050260080a01000002110100;GENEINFO=VHL:7428;WGT=1;VC=SNV;PM;S3D;NSM;REF;INT;OTHERKG;LSD;OM;CLNALLE=1;CLNHGVS=NC_000003.11:g.10188262A>C;CLNSRC=OMIM Allelic Variant;CLNORIGIN=1;CLNSRCID=608537.0008;CLNSIG=5;CLNDSDB=.;CLNDSDBID=.;CLNDBN=Hemangioblastoma\x2c sporadic cerebellar;CLNACC=RCV000002307.1 +3 10188315 rs193922611 T A . . RSPOS=10188315;dbSNPBuildID=136;SSR=0;SAO=1;VP=050260080a01000002100100;GENEINFO=VHL:7428;WGT=1;VC=SNV;PM;S3D;NSM;REF;INT;OTHERKG;LSD;CLNALLE=1;CLNHGVS=NC_000003.11:g.10188315T>A;CLNSRC=.;CLNORIGIN=1;CLNSRCID=.;CLNSIG=4;CLNDSDB=.;CLNDSDBID=.;CLNDBN=.;CLNACC=. +3 10191480 rs121913346 T A . . RSPOS=10191480;dbSNPBuildID=133;SSR=0;SAO=3;VP=050260000a01000002100120;GENEINFO=VHL:7428;WGT=1;VC=SNV;PM;S3D;NSM;REF;OTHERKG;LSD;CLNALLE=1;CLNHGVS=NC_000003.11:g.10191480T>A;CLNSRC=.;CLNORIGIN=2;CLNSRCID=.;CLNSIG=255;CLNDSDB=.;CLNDSDBID=.;CLNDBN=.;CLNACC=. +3 10191488 rs5030818 C G,T . . RSPOS=10191488;dbSNPBuildID=113;SSR=0;SAO=3;VP=050368000601000102110120;GENEINFO=VHL:7428;WGT=1;VC=SNV;PM;PMC;S3D;SLO;NSN;REF;GNO;OTHERKG;LSD;OM;CLNALLE=2;CLNHGVS=NC_000003.11:g.10191488C>T;CLNSRC=OMIM Allelic Variant;CLNORIGIN=1;CLNSRCID=608537.0006;CLNSIG=5;CLNDSDB=GeneReviews:NCBI:OMIM:Orphanet:SNOMED CT;CLNDSDBID=NBK1463:C0019562:193300:892:46659004;CLNDBN=Von Hippel-Lindau syndrome;CLNACC=RCV000002301.1 +3 10191495 rs28940297 T C . . RSPOS=10191495;dbSNPBuildID=132;SSR=0;SAO=1;VP=050260000a01000002110100;GENEINFO=VHL:7428;WGT=1;VC=SNV;PM;S3D;NSM;REF;OTHERKG;LSD;OM;CLNALLE=1;CLNHGVS=NC_000003.11:g.10191495T>C;CLNSRC=OMIM Allelic Variant;CLNORIGIN=1;CLNSRCID=608537.0018;CLNSIG=5;CLNDSDB=.;CLNDSDBID=.;CLNDBN=Renal cell carcinoma with paraneoplastic erythrocytosis;CLNACC=RCV000002319.1 +3 10191498 rs267607170 A G . . RSPOS=10191498;dbSNPBuildID=136;SSR=0;SAO=0;VP=050060000a01000002110100;GENEINFO=VHL:7428;WGT=1;VC=SNV;PM;NSM;REF;OTHERKG;LSD;OM;CLNALLE=1;CLNHGVS=NC_000003.11:g.10191498A>G;CLNSRC=OMIM Allelic Variant;CLNORIGIN=.;CLNSRCID=608537.0027;CLNSIG=5;CLNDSDB=GeneReviews:NCBI:OMIM:Orphanet:SNOMED CT;CLNDSDBID=NBK1463:C0019562:193300:892:46659004;CLNDBN=Von Hippel-Lindau syndrome;CLNACC=RCV000002326.1 +3 10191506 rs5030820 C G,T . . RSPOS=10191506;dbSNPBuildID=113;SSR=0;SAO=1;VP=050360000a01000102110100;GENEINFO=VHL:7428;WGT=1;VC=SNV;PM;S3D;SLO;NSM;REF;GNO;OTHERKG;LSD;OM;CLNALLE=1,2;CLNHGVS=NC_000003.11:g.10191506C>G,NC_000003.11:g.10191506C>T;CLNSRC=OMIM Allelic Variant,OMIM Allelic Variant|OMIM Allelic Variant|OMIM Allelic Variant;CLNORIGIN=1,1;CLNSRCID=608537.0004,608537.0003|608537.0010|608537.0011;CLNSIG=5,5|5;CLNDSDB=GeneReviews:NCBI:OMIM:Orphanet:SNOMED CT,GeneReviews:NCBI:OMIM:Orphanet:SNOMED CT|GeneReviews:NCBI:OMIM:Orphanet;CLNDSDBID=NBK1463:C0019562:193300:892:46659004,NBK1463:C0019562:193300:892:46659004|NBK1548:C0031511:171300:29072;CLNDBN=Von Hippel-Lindau syndrome,Von Hippel-Lindau syndrome|Pheochromocytoma;CLNACC=RCV000002304.1,RCV000002302.1|RCV000002303.1 +3 10191507 rs5030821 G A . . RSPOS=10191507;dbSNPBuildID=113;SSR=0;SAO=1;VP=050360000a01000102110100;GENEINFO=VHL:7428;WGT=1;VC=SNV;PM;S3D;SLO;NSM;REF;GNO;OTHERKG;LSD;OM;CLNALLE=1;CLNHGVS=NC_000003.11:g.10191507G>A;CLNSRC=OMIM Allelic Variant;CLNORIGIN=1;CLNSRCID=608537.0005;CLNSIG=5;CLNDSDB=GeneReviews:NCBI:OMIM:Orphanet:SNOMED CT;CLNDSDBID=NBK1463:C0019562:193300:892:46659004;CLNDBN=Von Hippel-Lindau syndrome;CLNACC=RCV000002300.1 +3 10191531 rs193922613 A G . . RSPOS=10191531;dbSNPBuildID=136;SSR=0;SAO=1;VP=050268000a01000002100100;GENEINFO=VHL:7428;WGT=1;VC=SNV;PM;PMC;S3D;NSM;REF;OTHERKG;LSD;CLNALLE=1;CLNHGVS=NC_000003.11:g.10191531A>G;CLNSRC=.;CLNORIGIN=1;CLNSRCID=.;CLNSIG=4;CLNDSDB=.;CLNDSDBID=.;CLNDBN=.;CLNACC=. +3 10191555 rs5030823 C A . . RSPOS=10191555;dbSNPBuildID=113;SSR=0;SAO=1;VP=050360000601000102110100;GENEINFO=VHL:7428;WGT=1;VC=SNV;PM;S3D;SLO;NSN;REF;GNO;OTHERKG;LSD;OM;CLNALLE=1;CLNHGVS=NC_000003.11:g.10191555C>A;CLNSRC=OMIM Allelic Variant;CLNORIGIN=1;CLNSRCID=608537.0002;CLNSIG=255;CLNDSDB=.;CLNDSDBID=.;CLNDBN=Renal cell carcinoma\x2c somatic;CLNACC=RCV000002299.1 +3 10191556 rs193922614 G A . . RSPOS=10191556;dbSNPBuildID=136;SSR=0;SAO=1;VP=050260000301000002100100;GENEINFO=VHL:7428;WGT=1;VC=SNV;PM;S3D;REF;SYN;OTHERKG;LSD;CLNALLE=1;CLNHGVS=NC_000003.11:g.10191556G>A;CLNSRC=.;CLNORIGIN=1;CLNSRCID=.;CLNSIG=3;CLNDSDB=.;CLNDSDBID=.;CLNDBN=.;CLNACC=. +3 10191569 rs5030824 C G . . RSPOS=10191569;dbSNPBuildID=113;SSR=0;SAO=1;VP=050360000a01000102110100;GENEINFO=VHL:7428;WGT=1;VC=SNV;PM;S3D;SLO;NSM;REF;GNO;OTHERKG;LSD;OM;CLNALLE=1;CLNHGVS=NC_000003.11:g.10191569C>G;CLNSRC=OMIM Allelic Variant;CLNORIGIN=1;CLNSRCID=608537.0014;CLNSIG=5|5|5;CLNDSDB=GeneReviews:NCBI:OMIM:Orphanet:SNOMED CT|NCBI:OMIM:Orphanet|GeneReviews:NCBI:OMIM:Orphanet;CLNDSDBID=NBK1463:C0019562:193300:892:46659004|C1837915:263400:238557|NBK1548:C0031511:171300:29072;CLNDBN=Von Hippel-Lindau syndrome|Erythrocytosis\x2c familial\x2c 2|Pheochromocytoma;CLNACC=RCV000002311.1|RCV000002312.1|RCV000002313.1 +3 10191572 rs121913345 GA G . . RSPOS=10191574;dbSNPBuildID=133;SSR=0;SAO=3;VP=050060001205000002100220;GENEINFO=VHL:7428;WGT=1;VC=DIV;PM;NSF;REF;ASP;OTHERKG;LSD;CLNALLE=1;CLNHGVS=NC_000003.11:g.10191574delA;CLNSRC=.;CLNORIGIN=2;CLNSRCID=.;CLNSIG=255;CLNDSDB=.;CLNDSDBID=.;CLNDBN=.;CLNACC=. +3 10191578 rs28940301 C G . . RSPOS=10191578;dbSNPBuildID=132;SSR=0;SAO=1;VP=050260000a01000002110100;GENEINFO=VHL:7428;WGT=1;VC=SNV;PM;S3D;NSM;REF;OTHERKG;LSD;OM;CLNALLE=1;CLNHGVS=NC_000003.11:g.10191578C>G;CLNSRC=OMIM Allelic Variant;CLNORIGIN=1;CLNSRCID=608537.0024;CLNSIG=5;CLNDSDB=NCBI:OMIM:Orphanet;CLNDSDBID=C1837915:263400:238557;CLNDBN=Erythrocytosis\x2c familial\x2c 2;CLNACC=RCV000002323.1 +3 10191581 rs28940300 C T . . RSPOS=10191581;dbSNPBuildID=132;SSR=0;SAO=1;VP=050260000a01000002110100;GENEINFO=VHL:7428;WGT=1;VC=SNV;PM;S3D;NSM;REF;OTHERKG;LSD;OM;CLNALLE=1;CLNHGVS=NC_000003.11:g.10191581C>T;CLNSRC=OMIM Allelic Variant;CLNORIGIN=1;CLNSRCID=608537.0023;CLNSIG=5;CLNDSDB=NCBI:OMIM:Orphanet;CLNDSDBID=C1837915:263400:238557;CLNDBN=Erythrocytosis\x2c familial\x2c 2;CLNACC=RCV000002322.1 +3 10191593 rs281860296 A G . . RSPOS=10191593;dbSNPBuildID=136;SSR=0;SAO=1;VP=050060000a01000002110100;WGT=1;VC=SNV;PM;NSM;REF;OTHERKG;LSD;OM;CLNALLE=1;CLNHGVS=NC_000003.11:g.10191593A>G;CLNSRC=.;CLNORIGIN=1;CLNSRCID=.;CLNSIG=1;CLNDSDB=.;CLNDSDBID=.;CLNDBN=.;CLNACC=. +3 10191605 rs28940298 C T . . RSPOS=10191605;dbSNPBuildID=132;SSR=0;SAO=1;VP=050268000a01000002110100;GENEINFO=VHL:7428;WGT=1;VC=SNV;PM;PMC;S3D;NSM;REF;OTHERKG;LSD;OM;CLNALLE=1;CLNHGVS=NC_000003.11:g.10191605C>T;CLNSRC=OMIM Allelic Variant;CLNORIGIN=1;CLNSRCID=608537.0019;CLNSIG=5;CLNDSDB=NCBI:OMIM:Orphanet;CLNDSDBID=C1837915:263400:238557;CLNDBN=Erythrocytosis\x2c familial\x2c 2;CLNACC=RCV000002320.1 +3 10191629 rs121913347 C T . . RSPOS=10191629;dbSNPBuildID=133;SSR=0;SAO=3;VP=050260000a01000002100120;GENEINFO=VHL:7428;WGT=1;VC=SNV;PM;S3D;NSM;REF;OTHERKG;LSD;CLNALLE=1;CLNHGVS=NC_000003.11:g.10191629C>T;CLNSRC=.;CLNORIGIN=2;CLNSRCID=.;CLNSIG=255;CLNDSDB=.;CLNDSDBID=.;CLNDBN=.;CLNACC=. +3 37067215 rs63750305 G GAT . . RSPOS=37067217;RV;dbSNPBuildID=136;SSR=0;SAO=0;VP=050060001201000002100200;GENEINFO=MLH1:4292;WGT=1;VC=DIV;PM;NSF;REF;OTHERKG;LSD;CLNALLE=-1;CLNHGVS=NC_000003.11:g.37067216_37067217dupAT;CLNSRC=.;CLNORIGIN=.;CLNSRCID=.;CLNSIG=1;CLNDSDB=.;CLNDSDBID=.;CLNDBN=.;CLNACC=. +3 37067217 rs267607824 T C . . RSPOS=37067217;dbSNPBuildID=136;SSR=0;SAO=0;VP=050060000301000002100100;GENEINFO=MLH1:4292;WGT=1;VC=SNV;PM;REF;SYN;OTHERKG;LSD;CLNALLE=1;CLNHGVS=NC_000003.11:g.37067217T>C;CLNSRC=.;CLNORIGIN=.;CLNSRCID=.;CLNSIG=1;CLNDSDB=.;CLNDSDBID=.;CLNDBN=.;CLNACC=. +3 37067230 rs63750557 C T . . RSPOS=37067230;RV;dbSNPBuildID=136;SSR=0;SAO=0;VP=050060000a01000002100100;GENEINFO=MLH1:4292;WGT=1;VC=SNV;PM;NSM;REF;OTHERKG;LSD;CLNALLE=1;CLNHGVS=NC_000003.11:g.37067230C>T;CLNSRC=.;CLNORIGIN=.;CLNSRCID=.;CLNSIG=1;CLNDSDB=.;CLNDSDBID=.;CLNDBN=.;CLNACC=. +3 37067237 rs63749965 TG T . . RSPOS=37067239;dbSNPBuildID=136;SSR=0;SAO=0;VP=050060001201000002100200;GENEINFO=MLH1:4292;WGT=1;VC=DIV;PM;NSF;REF;OTHERKG;LSD;CLNALLE=1;CLNHGVS=NC_000003.11:g.37067239delG;CLNSRC=.;CLNORIGIN=.;CLNSRCID=.;CLNSIG=1;CLNDSDB=.;CLNDSDBID=.;CLNDBN=.;CLNACC=. +3 37067240 rs63750447 T A . . RSPOS=37067240;GMAF=0.0092;dbSNPBuildID=133;SSR=0;SAO=3;VP=050060000a01000016100120;GENEINFO=MLH1:4292;WGT=1;VC=SNV;PM;NSM;REF;KGPhase1;KGPROD;OTHERKG;LSD;CLNALLE=1;CLNHGVS=NC_000003.11:g.37067240T>A;CLNSRC=.;CLNORIGIN=2;CLNSRCID=.;CLNSIG=255;CLNDSDB=.;CLNDSDBID=.;CLNDBN=.;CLNACC=. +3 37067242 rs63750760 C T . . RSPOS=37067242;RV;dbSNPBuildID=136;SSR=0;SAO=0;VP=050060000a01000002100100;GENEINFO=MLH1:4292;WGT=1;VC=SNV;PM;NSM;REF;OTHERKG;LSD;CLNALLE=1;CLNHGVS=NC_000003.11:g.37067242C>T;CLNSRC=.;CLNORIGIN=.;CLNSRCID=.;CLNSIG=1;CLNDSDB=.;CLNDSDBID=.;CLNDBN=.;CLNACC=. +3 37067243 rs63750430 G C,T . . RSPOS=37067243;RV;dbSNPBuildID=134;SSR=0;SAO=0;VP=050060000a01000002100100;GENEINFO=MLH1:4292;WGT=1;VC=SNV;PM;NSM;REF;OTHERKG;LSD;CLNALLE=1;CLNHGVS=NC_000003.11:g.37067243G>C;CLNSRC=.;CLNORIGIN=.;CLNSRCID=.;CLNSIG=1;CLNDSDB=.;CLNDSDBID=.;CLNDBN=.;CLNACC=. +3 37067254 rs61751644 C A,T . . RSPOS=37067254;dbSNPBuildID=129;SSR=0;SAO=0;VP=050060000a01000002100100;GENEINFO=MLH1:4292;WGT=1;VC=SNV;PM;NSM;REF;OTHERKG;LSD;CLNALLE=2;CLNHGVS=NC_000003.11:g.37067254C>T;CLNSRC=.;CLNORIGIN=.;CLNSRCID=.;CLNSIG=1;CLNDSDB=.;CLNDSDBID=.;CLNDBN=.;CLNACC=. +3 37067255 rs63750361 G A,C,T . . RSPOS=37067255;RV;dbSNPBuildID=134;SSR=0;SAO=0;VP=050060000a01040002100104;GENEINFO=MLH1:4292;WGT=1;VC=SNV;PM;NSM;REF;VLD;OTHERKG;LSD;NOV;CLNALLE=1;CLNHGVS=NC_000003.11:g.37067255G>A;CLNSRC=.;CLNORIGIN=.;CLNSRCID=.;CLNSIG=1;CLNDSDB=.;CLNDSDBID=.;CLNDBN=.;CLNACC=. +3 37067278 rs63750749 CT C . . RSPOS=37067279;dbSNPBuildID=136;SSR=0;SAO=0;VP=050060001201000002100200;GENEINFO=MLH1:4292;WGT=1;VC=DIV;PM;NSF;REF;OTHERKG;LSD;CLNALLE=1;CLNHGVS=NC_000003.11:g.37067279delT;CLNSRC=.;CLNORIGIN=.;CLNSRCID=.;CLNSIG=1;CLNDSDB=.;CLNDSDBID=.;CLNDBN=.;CLNACC=. +3 37067281 rs63750483 C T . . RSPOS=37067281;dbSNPBuildID=136;SSR=0;SAO=0;VP=050060000601000002100100;GENEINFO=MLH1:4292;WGT=1;VC=SNV;PM;NSN;REF;OTHERKG;LSD;CLNALLE=1;CLNHGVS=NC_000003.11:g.37067281C>T;CLNSRC=.;CLNORIGIN=.;CLNSRCID=.;CLNSIG=1;CLNDSDB=.;CLNDSDBID=.;CLNDBN=.;CLNACC=. +3 37067287 rs63751485 C G . . RSPOS=37067287;RV;dbSNPBuildID=136;SSR=0;SAO=0;VP=050060000a01000002100100;GENEINFO=MLH1:4292;WGT=1;VC=SNV;PM;NSM;REF;OTHERKG;LSD;CLNALLE=1;CLNHGVS=NC_000003.11:g.37067287C>G;CLNSRC=.;CLNORIGIN=.;CLNSRCID=.;CLNSIG=1;CLNDSDB=.;CLNDSDBID=.;CLNDBN=.;CLNACC=. +3 37067298 rs63751015 CCT C . . RSPOS=37067299;RV;dbSNPBuildID=136;SSR=0;SAO=0;VP=050060001201000002100200;GENEINFO=MLH1:4292;WGT=1;VC=DIV;PM;NSF;REF;OTHERKG;LSD;CLNALLE=1;CLNHGVS=NC_000003.11:g.37067299_37067300delCT;CLNSRC=.;CLNORIGIN=.;CLNSRCID=.;CLNSIG=1;CLNDSDB=.;CLNDSDBID=.;CLNDBN=.;CLNACC=. +3 37067306 rs41294980 G A . . RSPOS=37067306;GMAF=0.0005;dbSNPBuildID=127;SSR=0;SAO=0;VP=050060000a01040016100100;GENEINFO=MLH1:4292;WGT=1;VC=SNV;PM;NSM;REF;VLD;KGPhase1;KGPROD;OTHERKG;LSD;CLNALLE=1;CLNHGVS=NC_000003.11:g.37067306G>A;CLNSRC=.;CLNORIGIN=.;CLNSRCID=.;CLNSIG=1;CLNDSDB=.;CLNDSDBID=.;CLNDBN=.;CLNACC=. +3 37067314 rs63751153 C T . . RSPOS=37067314;RV;dbSNPBuildID=136;SSR=0;SAO=0;VP=050060000601000002100100;GENEINFO=MLH1:4292;WGT=1;VC=SNV;PM;NSN;REF;OTHERKG;LSD;CLNALLE=1;CLNHGVS=NC_000003.11:g.37067314C>T;CLNSRC=.;CLNORIGIN=.;CLNSRCID=.;CLNSIG=1;CLNDSDB=.;CLNDSDBID=.;CLNDBN=.;CLNACC=. +3 37067315 rs104895000 A C . . RSPOS=37067315;dbSNPBuildID=136;SSR=0;SAO=1;VP=050060000a01000002100100;GENEINFO=MLH1:4292;WGT=1;VC=SNV;PM;NSM;REF;OTHERKG;LSD;CLNALLE=1;CLNHGVS=NC_000003.11:g.37067315A>C;CLNSRC=.;CLNORIGIN=0;CLNSRCID=.;CLNSIG=1;CLNDSDB=.;CLNDSDBID=.;CLNDBN=.;CLNACC=. +3 37067327 rs63750766 C T . . RSPOS=37067327;dbSNPBuildID=136;SSR=0;SAO=0;VP=050060000a01000002100100;GENEINFO=MLH1:4292;WGT=1;VC=SNV;PM;NSM;REF;OTHERKG;LSD;CLNALLE=1;CLNHGVS=NC_000003.11:g.37067327C>T;CLNSRC=.;CLNORIGIN=.;CLNSRCID=.;CLNSIG=1;CLNDSDB=.;CLNDSDBID=.;CLNDBN=.;CLNACC=. +3 37067335 rs267607823 A G . . RSPOS=37067335;dbSNPBuildID=136;SSR=0;SAO=0;VP=050060000a01000002100100;GENEINFO=MLH1:4292;WGT=1;VC=SNV;PM;NSM;REF;OTHERKG;LSD;CLNALLE=1;CLNHGVS=NC_000003.11:g.37067335A>G;CLNSRC=.;CLNORIGIN=.;CLNSRCID=.;CLNSIG=1;CLNDSDB=.;CLNDSDBID=.;CLNDBN=.;CLNACC=. +3 37067340 rs63751118 AGA A . . RSPOS=37067341;dbSNPBuildID=136;SSR=0;SAO=0;VP=050060001201000002100200;GENEINFO=MLH1:4292;WGT=1;VC=DIV;PM;NSF;REF;OTHERKG;LSD;CLNALLE=1;CLNHGVS=NC_000003.11:g.37067341_37067342delGA;CLNSRC=.;CLNORIGIN=.;CLNSRCID=.;CLNSIG=1;CLNDSDB=.;CLNDSDBID=.;CLNDBN=.;CLNACC=. +3 37067343 rs63751440 T A,G . . RSPOS=37067343;dbSNPBuildID=136;SSR=0;SAO=0;VP=050060000a01000002100100;GENEINFO=MLH1:4292;WGT=1;VC=SNV;PM;NSM;REF;OTHERKG;LSD;CLNALLE=1,2;CLNHGVS=NC_000003.11:g.37067343T>A,NC_000003.11:g.37067343T>G;CLNSRC=.,.;CLNORIGIN=.,.;CLNSRCID=.,.;CLNSIG=1,1;CLNDSDB=.,.;CLNDSDBID=.,.;CLNDBN=.,.;CLNACC=.,. +3 37067348 rs63751179 C G . . RSPOS=37067348;RV;dbSNPBuildID=136;SSR=0;SAO=0;VP=050060000a01000002100100;GENEINFO=MLH1:4292;WGT=1;VC=SNV;PM;NSM;REF;OTHERKG;LSD;CLNALLE=1;CLNHGVS=NC_000003.11:g.37067348C>G;CLNSRC=.;CLNORIGIN=.;CLNSRCID=.;CLNSIG=1;CLNDSDB=.;CLNDSDBID=.;CLNDBN=.;CLNACC=. +3 37067349 rs63750293 TA T . . RSPOS=37067350;dbSNPBuildID=136;SSR=0;SAO=0;VP=050060001201000002100200;GENEINFO=MLH1:4292;WGT=1;VC=DIV;PM;NSF;REF;OTHERKG;LSD;CLNALLE=1;CLNHGVS=NC_000003.11:g.37067350delA;CLNSRC=.;CLNORIGIN=.;CLNSRCID=.;CLNSIG=1;CLNDSDB=.;CLNDSDBID=.;CLNDBN=.;CLNACC=. +3 37067355 rs63750791 C T . . RSPOS=37067355;RV;dbSNPBuildID=136;SSR=0;SAO=0;VP=050060000301000002100100;GENEINFO=MLH1:4292;WGT=1;VC=SNV;PM;REF;SYN;OTHERKG;LSD;CLNALLE=1;CLNHGVS=NC_000003.11:g.37067355C>T;CLNSRC=.;CLNORIGIN=.;CLNSRCID=.;CLNSIG=1;CLNDSDB=.;CLNDSDBID=.;CLNDBN=.;CLNACC=. +3 37067365 rs63750316 C T . . RSPOS=37067365;dbSNPBuildID=136;SSR=0;SAO=0;VP=050060000601000002100100;GENEINFO=MLH1:4292;WGT=1;VC=SNV;PM;NSN;REF;OTHERKG;LSD;CLNALLE=1;CLNHGVS=NC_000003.11:g.37067365C>T;CLNSRC=.;CLNORIGIN=.;CLNSRCID=.;CLNSIG=1;CLNDSDB=.;CLNDSDBID=.;CLNDBN=.;CLNACC=. +3 37067386 rs63750443 G C . . RSPOS=37067386;dbSNPBuildID=136;SSR=0;SAO=0;VP=050060000a01000002100100;GENEINFO=MLH1:4292;WGT=1;VC=SNV;PM;NSM;REF;OTHERKG;LSD;CLNALLE=1;CLNHGVS=NC_000003.11:g.37067386G>C;CLNSRC=.;CLNORIGIN=.;CLNSRCID=.;CLNSIG=1;CLNDSDB=.;CLNDSDBID=.;CLNDBN=.;CLNACC=. +3 37067393 rs63751414 C T . . RSPOS=37067393;dbSNPBuildID=136;SSR=0;SAO=0;VP=050060000a01000002100100;GENEINFO=MLH1:4292;WGT=1;VC=SNV;PM;NSM;REF;OTHERKG;LSD;CLNALLE=1;CLNHGVS=NC_000003.11:g.37067393C>T;CLNSRC=.;CLNORIGIN=.;CLNSRCID=.;CLNSIG=1;CLNDSDB=.;CLNDSDBID=.;CLNDBN=.;CLNACC=. +3 41266040 rs121913394 G A . . RSPOS=41266040;dbSNPBuildID=133;SSR=0;SAO=3;VP=050260000a01000002100120;GENEINFO=CTNNB1:1499;WGT=1;VC=SNV;PM;S3D;NSM;REF;OTHERKG;LSD;CLNALLE=1;CLNHGVS=NC_000003.11:g.41266040G>A;CLNSRC=.;CLNORIGIN=2;CLNSRCID=.;CLNSIG=255;CLNDSDB=.;CLNDSDBID=.;CLNDBN=.;CLNACC=. +3 41266064 rs121913395 G A . . RSPOS=41266064;dbSNPBuildID=133;SSR=0;SAO=3;VP=050260000a01000002100120;GENEINFO=CTNNB1:1499;WGT=1;VC=SNV;PM;S3D;NSM;REF;OTHERKG;LSD;CLNALLE=1;CLNHGVS=NC_000003.11:g.41266064G>A;CLNSRC=.;CLNORIGIN=2;CLNSRCID=.;CLNSIG=255;CLNDSDB=.;CLNDSDBID=.;CLNDBN=.;CLNACC=. +3 41266068 rs77064436 T C,G . . RSPOS=41266068;dbSNPBuildID=133;SSR=16;SAO=3;VP=050260000a01000402100160;GENEINFO=CTNNB1:1499;WGT=1;VC=SNV;PM;S3D;NSM;REF;HD;OTHERKG;LSD;CLNALLE=1;CLNHGVS=NC_000003.11:g.41266068T>C;CLNSRC=.;CLNORIGIN=2;CLNSRCID=.;CLNSIG=255;CLNDSDB=.;CLNDSDBID=.;CLNDBN=.;CLNACC=. +3 41266076 rs121913417 TGGCAGCAACAGTCTTACCTGGACT T . . RSPOS=41266077;dbSNPBuildID=133;SSR=0;SAO=0;VP=050060000201000002100200;GENEINFO=CTNNB1:1499;WGT=1;VC=DIV;PM;REF;OTHERKG;LSD;CLNALLE=1;CLNHGVS=NC_000003.11:g.41266077_41266100del24;CLNSRC=.;CLNORIGIN=2;CLNSRCID=.;CLNSIG=255;CLNDSDB=.;CLNDSDBID=.;CLNDBN=.;CLNACC=. +3 41266097 rs28931588 G A,C,T . . RSPOS=41266097;dbSNPBuildID=132;SSR=0;SAO=3;VP=050268000a01000002110124;GENEINFO=CTNNB1:1499;WGT=1;VC=SNV;PM;PMC;S3D;NSM;REF;OTHERKG;LSD;OM;NOV;CLNALLE=1,2,3;CLNHGVS=NC_000003.11:g.41266097G>A,NC_000003.11:g.41266097G>C,NC_000003.11:g.41266097G>T;CLNSRC=.,.,OMIM Allelic Variant|OMIM Allelic Variant;CLNORIGIN=2,2,1;CLNSRCID=.,.,116806.0004|116806.0016;CLNSIG=255,255,255|255|255;CLNDSDB=.,.,.|.|.;CLNDSDBID=.,.,.|.|.;CLNDBN=.,.,Hepatoblastoma\x2c somatic|Pilomatricoma\x2c somatic|Pilomatricoma\x2c somatic;CLNACC=.,.,RCV000019144.1|RCV000019145.1|RCV000019155.1 +3 41266098 rs121913396 A C,G,T . . RSPOS=41266098;dbSNPBuildID=133;SSR=0;SAO=3;VP=050260000a01000002110124;GENEINFO=CTNNB1:1499;WGT=1;VC=SNV;PM;S3D;NSM;REF;OTHERKG;LSD;OM;NOV;CLNALLE=1,2,3;CLNHGVS=NC_000003.11:g.41266098A>C,NC_000003.11:g.41266098A>G,NC_000003.11:g.41266098A>T;CLNSRC=.,OMIM Allelic Variant,.;CLNORIGIN=2,1,2;CLNSRCID=.,116806.0006,.;CLNSIG=255,255,255;CLNDSDB=.,.,.;CLNDSDBID=.,.,.;CLNDBN=.,Pilomatricoma\x2c somatic,.;CLNACC=.,RCV000019140.1,. +3 41266101 rs121913400 C A,G,T . . RSPOS=41266101;dbSNPBuildID=133;SSR=0;SAO=3;VP=050260000a01000002110124;GENEINFO=CTNNB1:1499;WGT=1;VC=SNV;PM;S3D;NSM;REF;OTHERKG;LSD;OM;NOV;CLNALLE=1,2,3;CLNHGVS=NC_000003.11:g.41266101C>A,NC_000003.11:g.41266101C>G,NC_000003.11:g.41266101C>T;CLNSRC=OMIM Allelic Variant,.,OMIM Allelic Variant|OMIM Allelic Variant;CLNORIGIN=1,2,2;CLNSRCID=116806.0002,.,116806.0007|116806.0015;CLNSIG=255|255,255,255|255;CLNDSDB=.|.,.,.|.;CLNDSDBID=.|.,.,.|.;CLNDBN=Colorectal cancer\x2c somatic|Pilomatricoma\x2c somatic,.,Pilomatricoma\x2c somatic|Medulloblastoma\x2c somatic;CLNACC=RCV000019138.1|RCV000019139.1,.,RCV000019147.1|RCV000019148.1 +3 41266103 rs121913399 G A . . RSPOS=41266103;dbSNPBuildID=133;SSR=0;SAO=3;VP=050260000a01000002100120;GENEINFO=CTNNB1:1499;WGT=1;VC=SNV;PM;S3D;NSM;REF;OTHERKG;LSD;CLNALLE=1;CLNHGVS=NC_000003.11:g.41266103G>A;CLNSRC=.;CLNORIGIN=2;CLNSRCID=.;CLNSIG=255;CLNDSDB=.;CLNDSDBID=.;CLNDBN=.;CLNACC=. +3 41266104 rs28931589 G A,T . . RSPOS=41266104;dbSNPBuildID=132;SSR=0;SAO=3;VP=050268000a01000002110120;GENEINFO=CTNNB1:1499;WGT=1;VC=SNV;PM;PMC;S3D;NSM;REF;OTHERKG;LSD;OM;CLNALLE=1,2;CLNHGVS=NC_000003.11:g.41266104G>A,NC_000003.11:g.41266104G>T;CLNSRC=OMIM Allelic Variant,OMIM Allelic Variant;CLNORIGIN=1,2;CLNSRCID=116806.0008,116806.0005;CLNSIG=255,255;CLNDSDB=.,.;CLNDSDBID=.,.;CLNDBN=Pilomatricoma\x2c somatic,Hepatoblastoma\x2c somatic;CLNACC=RCV000019149.1,RCV000019146.1 +3 41266112 rs121913228 T C,G . . RSPOS=41266112;dbSNPBuildID=133;SSR=0;SAO=3;VP=050260000a01000002100120;GENEINFO=CTNNB1:1499;WGT=1;VC=SNV;PM;S3D;NSM;REF;OTHERKG;LSD;CLNALLE=1,2;CLNHGVS=NC_000003.11:g.41266112T>C,NC_000003.11:g.41266112T>G;CLNSRC=.,.;CLNORIGIN=2,2;CLNSRCID=.,.;CLNSIG=255,255;CLNDSDB=.,.;CLNDSDBID=.,.;CLNDBN=.,.;CLNACC=.,. +3 41266113 rs121913403 C A,G,T . . RSPOS=41266113;dbSNPBuildID=133;SSR=0;SAO=3;VP=050260000a01000002110124;GENEINFO=CTNNB1:1499;WGT=1;VC=SNV;PM;S3D;NSM;REF;OTHERKG;LSD;OM;NOV;CLNALLE=1,2,3;CLNHGVS=NC_000003.11:g.41266113C>A,NC_000003.11:g.41266113C>G,NC_000003.11:g.41266113C>T;CLNSRC=.,OMIM Allelic Variant|OMIM Allelic Variant,OMIM Allelic Variant;CLNORIGIN=2,1,2;CLNSRCID=.,116806.0009|116806.0012,116806.0010;CLNSIG=255,255|255,255;CLNDSDB=.,.|.,.;CLNDSDBID=.,.|.,.;CLNDBN=.,Ovarian cancer\x2c somatic|Pilomatricoma\x2c somatic,Pilomatricoma\x2c somatic;CLNACC=.,RCV000019141.1|RCV000030945.1,RCV000019151.1 +3 41266124 rs121913412 A C,G,T . . RSPOS=41266124;dbSNPBuildID=133;SSR=0;SAO=3;VP=050260000a01000002110124;GENEINFO=CTNNB1:1499;WGT=1;VC=SNV;PM;S3D;NSM;REF;OTHERKG;LSD;OM;NOV;CLNALLE=1,2,3;CLNHGVS=NC_000003.11:g.41266124A>C,NC_000003.11:g.41266124A>G,NC_000003.11:g.41266124A>T;CLNSRC=.,OMIM Allelic Variant,.;CLNORIGIN=2,1,2;CLNSRCID=.,116806.0003,.;CLNSIG=255,255|255,255;CLNDSDB=.,.|NCBI,.;CLNDSDBID=.,.|C2675440,.;CLNDBN=.,Hepatoblastoma\x2c somatic|Desmoid tumor\x2c somatic,.;CLNACC=.,RCV000019142.1|RCV000019143.1,. +3 41266125 rs121913413 C T . . RSPOS=41266125;dbSNPBuildID=133;SSR=0;SAO=3;VP=050260000a01000002110120;GENEINFO=CTNNB1:1499;WGT=1;VC=SNV;PM;S3D;NSM;REF;OTHERKG;LSD;OM;CLNALLE=1;CLNHGVS=NC_000003.11:g.41266125C>T;CLNSRC=OMIM Allelic Variant;CLNORIGIN=2;CLNSRCID=116806.0011;CLNSIG=255;CLNDSDB=.;CLNDSDBID=.;CLNDBN=Pilomatricoma\x2c somatic;CLNACC=RCV000019152.1 +3 41266136 rs121913407 T C,G . . RSPOS=41266136;dbSNPBuildID=133;SSR=0;SAO=3;VP=050260000a01000002110120;GENEINFO=CTNNB1:1499;WGT=1;VC=SNV;PM;S3D;NSM;REF;OTHERKG;LSD;OM;CLNALLE=1,2;CLNHGVS=NC_000003.11:g.41266136T>C,NC_000003.11:g.41266136T>G;CLNSRC=OMIM Allelic Variant,.;CLNORIGIN=1,2;CLNSRCID=116806.0014,.;CLNSIG=255,255;CLNDSDB=.,.;CLNDSDBID=.,.;CLNDBN=Hepatocellular carcinoma\x2c somatic,.;CLNACC=RCV000019154.1,. +3 41266137 rs121913409 C A,G,T . . RSPOS=41266137;dbSNPBuildID=133;SSR=0;SAO=3;VP=050260000a01000002110124;GENEINFO=CTNNB1:1499;WGT=1;VC=SNV;PM;S3D;NSM;REF;OTHERKG;LSD;OM;NOV;CLNALLE=1,2,3;CLNHGVS=NC_000003.11:g.41266137C>A,NC_000003.11:g.41266137C>G,NC_000003.11:g.41266137C>T;CLNSRC=.,.,OMIM Allelic Variant;CLNORIGIN=2,2,1;CLNSRCID=.,.,116806.0013;CLNSIG=255,255,255;CLNDSDB=.,.,.;CLNDSDBID=.,.,.;CLNDBN=.,.,Hepatocellular carcinoma\x2c somatic;CLNACC=.,.,RCV000019153.1 +3 178916876 rs121913287 G A . . RSPOS=178916876;dbSNPBuildID=133;SSR=0;SAO=3;VP=050260000a01000002100120;GENEINFO=PIK3CA:5290;WGT=1;VC=SNV;PM;S3D;NSM;REF;OTHERKG;LSD;CLNALLE=1;CLNHGVS=NC_000003.11:g.178916876G>A;CLNSRC=.;CLNORIGIN=2;CLNSRCID=.;CLNSIG=255;CLNDSDB=.;CLNDSDBID=.;CLNDBN=.;CLNACC=. +3 178921553 rs121913284 T A . . RSPOS=178921553;dbSNPBuildID=133;SSR=0;SAO=3;VP=050260000a01000002100120;GENEINFO=PIK3CA:5290;WGT=1;VC=SNV;PM;S3D;NSM;REF;OTHERKG;LSD;CLNALLE=1;CLNHGVS=NC_000003.11:g.178921553T>A;CLNSRC=.;CLNORIGIN=2;CLNSRCID=.;CLNSIG=255;CLNDSDB=.;CLNDSDBID=.;CLNDBN=.;CLNACC=. +3 178927980 rs121913272 T C . . RSPOS=178927980;dbSNPBuildID=133;SSR=0;SAO=3;VP=050260000a01000002100120;GENEINFO=PIK3CA:5290;WGT=1;VC=SNV;PM;S3D;NSM;REF;OTHERKG;LSD;CLNALLE=1;CLNHGVS=NC_000003.11:g.178927980T>C;CLNSRC=.;CLNORIGIN=2;CLNSRCID=.;CLNSIG=255;CLNDSDB=.;CLNDSDBID=.;CLNDBN=.;CLNACC=. +3 178936074 rs121913285 C G . . RSPOS=178936074;dbSNPBuildID=133;SSR=0;SAO=3;VP=050260000a01000002100120;GENEINFO=PIK3CA:5290;WGT=1;VC=SNV;PM;S3D;NSM;REF;OTHERKG;LSD;CLNALLE=1;CLNHGVS=NC_000003.11:g.178936074C>G;CLNSRC=.;CLNORIGIN=2;CLNSRCID=.;CLNSIG=255;CLNDSDB=.;CLNDSDBID=.;CLNDBN=.;CLNACC=. +3 178936082 rs121913273 G A . . RSPOS=178936082;dbSNPBuildID=133;SSR=0;SAO=3;VP=050260000a01000002100120;GENEINFO=PIK3CA:5290;WGT=1;VC=SNV;PM;S3D;NSM;REF;OTHERKG;LSD;CLNALLE=1;CLNHGVS=NC_000003.11:g.178936082G>A;CLNSRC=.;CLNORIGIN=2;CLNSRCID=.;CLNSIG=255;CLNDSDB=.;CLNDSDBID=.;CLNDBN=.;CLNACC=. +3 178936091 rs104886003 G A . . RSPOS=178936091;dbSNPBuildID=132;SSR=0;SAO=3;VP=050260000a01000002110120;GENEINFO=PIK3CA:5290;WGT=1;VC=SNV;PM;S3D;NSM;REF;OTHERKG;LSD;OM;CLNALLE=1;CLNHGVS=NC_000003.11:g.178936091G>A;CLNSRC=OMIM Allelic Variant;CLNORIGIN=2;CLNSRCID=171834.0003;CLNSIG=255|255|255|255|255|255;CLNDSDB=.|NCBI|.|.|.|.;CLNDSDBID=.|C0677886|.|.|.|.;CLNDBN=Breast cancer\x2c somatic|Ovarian epithelial cancer|Colorectal cancer\x2c somatic|Gastric cancer\x2c somatic|Nonsmall cell lung cancer\x2c somatic|Keratosis\x2c seborrheic\x2c somatic;CLNACC=RCV000014631.1|RCV000014632.1|RCV000014633.1|RCV000014634.1|RCV000014635.1|RCV000014636.1 +3 178936092 rs121913274 A C,G . . RSPOS=178936092;dbSNPBuildID=133;SSR=0;SAO=3;VP=050260000a01000002110120;GENEINFO=PIK3CA:5290;WGT=1;VC=SNV;PM;S3D;NSM;REF;OTHERKG;LSD;OM;CLNALLE=1,2;CLNHGVS=NC_000003.11:g.178936092A>C,NC_000003.11:g.178936092A>G;CLNSRC=OMIM Allelic Variant,OMIM Allelic Variant;CLNORIGIN=1,1;CLNSRCID=171834.0008,171834.0004;CLNSIG=255,255|255;CLNDSDB=.,.|.;CLNDSDBID=.,.|.;CLNDBN=Hepatocellular carcinoma\x2c somatic,Colorectal cancer\x2c somatic|Nevus\x2c epidermal\x2c somatic;CLNACC=RCV000014643.1,RCV000014637.1|RCV000014638.1 +3 178936093 rs121913275 G T . . RSPOS=178936093;dbSNPBuildID=133;SSR=0;SAO=3;VP=050260000a01000002100120;GENEINFO=PIK3CA:5290;WGT=1;VC=SNV;PM;S3D;NSM;REF;OTHERKG;LSD;CLNALLE=1;CLNHGVS=NC_000003.11:g.178936093G>T;CLNSRC=.;CLNORIGIN=2;CLNSRCID=.;CLNSIG=255;CLNDSDB=.;CLNDSDBID=.;CLNDBN=.;CLNACC=. +3 178936094 rs121913286 C A,G . . RSPOS=178936094;dbSNPBuildID=133;SSR=0;SAO=3;VP=050260000a01000002110120;GENEINFO=PIK3CA:5290;WGT=1;VC=SNV;PM;S3D;NSM;REF;OTHERKG;LSD;OM;CLNALLE=1,2;CLNHGVS=NC_000003.11:g.178936094C>A,NC_000003.11:g.178936094C>G;CLNSRC=OMIM Allelic Variant,OMIM Allelic Variant;CLNORIGIN=1,1;CLNSRCID=171834.0005,171834.0006;CLNSIG=255|255,255;CLNDSDB=NCBI|.,.;CLNDSDBID=C0677886|.,.;CLNDBN=Ovarian epithelial cancer|Colorectal cancer\x2c somatic,Breast cancer\x2c somatic;CLNACC=RCV000014639.1|RCV000014640.1,RCV000014630.1 +3 178936122 rs104886000 G A . . RSPOS=178936122;dbSNPBuildID=132;SSR=0;SAO=3;VP=050260000a01000002110120;GENEINFO=PIK3CA:5290;WGT=1;VC=SNV;PM;S3D;NSM;REF;OTHERKG;LSD;OM;CLNALLE=1;CLNHGVS=NC_000003.11:g.178936122G>A;CLNSRC=.;CLNORIGIN=2;CLNSRCID=.;CLNSIG=255;CLNDSDB=.;CLNDSDBID=.;CLNDBN=.;CLNACC=. +3 178936140 rs104886001 G A . . RSPOS=178936140;dbSNPBuildID=132;SSR=0;SAO=3;VP=050060080001000002110120;GENEINFO=PIK3CA:5290;WGT=1;VC=SNV;PM;INT;OTHERKG;LSD;OM;CLNALLE=1;CLNHGVS=NC_000003.11:g.178936140G>A;CLNSRC=.;CLNORIGIN=2;CLNSRCID=.;CLNSIG=255;CLNDSDB=.;CLNDSDBID=.;CLNDBN=.;CLNACC=. +3 178938860 rs121913282 A C . . RSPOS=178938860;dbSNPBuildID=133;SSR=0;SAO=3;VP=050260000a01000002100120;GENEINFO=PIK3CA:5290;WGT=1;VC=SNV;PM;S3D;NSM;REF;OTHERKG;LSD;CLNALLE=1;CLNHGVS=NC_000003.11:g.178938860A>C;CLNSRC=.;CLNORIGIN=2;CLNSRCID=.;CLNSIG=255;CLNDSDB=.;CLNDSDBID=.;CLNDBN=.;CLNACC=. +3 178952007 rs121913288 A G . . RSPOS=178952007;dbSNPBuildID=133;SSR=0;SAO=3;VP=050260000a01000002100120;GENEINFO=PIK3CA:5290;WGT=1;VC=SNV;PM;S3D;NSM;REF;OTHERKG;LSD;CLNALLE=1;CLNHGVS=NC_000003.11:g.178952007A>G;CLNSRC=.;CLNORIGIN=2;CLNSRCID=.;CLNSIG=255;CLNDSDB=.;CLNDSDBID=.;CLNDBN=.;CLNACC=. +3 178952074 rs121913283 G T . . RSPOS=178952074;dbSNPBuildID=133;SSR=0;SAO=3;VP=050260000a01000002100120;GENEINFO=PIK3CA:5290;WGT=1;VC=SNV;PM;S3D;NSM;REF;OTHERKG;LSD;CLNALLE=1;CLNHGVS=NC_000003.11:g.178952074G>T;CLNSRC=.;CLNORIGIN=2;CLNSRCID=.;CLNSIG=255;CLNDSDB=.;CLNDSDBID=.;CLNDBN=.;CLNACC=. +3 178952084 rs121913281 C T . . RSPOS=178952084;dbSNPBuildID=133;SSR=0;SAO=3;VP=050260000a01000002100120;GENEINFO=PIK3CA:5290;WGT=1;VC=SNV;PM;S3D;NSM;REF;OTHERKG;LSD;CLNALLE=1;CLNHGVS=NC_000003.11:g.178952084C>T;CLNSRC=.;CLNORIGIN=2;CLNSRCID=.;CLNSIG=255;CLNDSDB=.;CLNDSDBID=.;CLNDBN=.;CLNACC=. +3 178952085 rs121913279 A G,T . . RSPOS=178952085;dbSNPBuildID=133;SSR=0;SAO=3;VP=050260000a01000002110120;GENEINFO=PIK3CA:5290;WGT=1;VC=SNV;PM;S3D;NSM;REF;OTHERKG;LSD;OM;CLNALLE=1,2;CLNHGVS=NC_000003.11:g.178952085A>G,NC_000003.11:g.178952085A>T;CLNSRC=OMIM Allelic Variant,OMIM Allelic Variant;CLNORIGIN=2,2;CLNSRCID=171834.0001,171834.0002;CLNSIG=255|255|255|255|255|255|255|1,255;CLNDSDB=.|NCBI|.|.|.|.|.|NCBI:OMIM:Orphanet,.;CLNDSDBID=.|C0677886|.|.|.|.|.|C2752042:612918:140944,.;CLNDBN=Breast cancer\x2c somatic|Ovarian epithelial cancer|Colorectal cancer\x2c somatic|Gastric cancer\x2c somatic|Hepatocellular carcinoma\x2c somatic|Nonsmall cell lung cancer\x2c somatic|Keratosis\x2c seborrheic\x2c somatic|Congenital lipomatous overgrowth\x2c vascular malformations\x2c and epidermal nevi,Breast cancer\x2c somatic;CLNACC=RCV000014622.1|RCV000014623.1|RCV000014624.1|RCV000014625.1|RCV000014626.1|RCV000014627.1|RCV000014628.1|RCV000024621.1,RCV000014629.1 +3 178952090 rs121913277 G A,C . . RSPOS=178952090;dbSNPBuildID=133;SSR=0;SAO=3;VP=050260000a01000002100120;GENEINFO=PIK3CA:5290;WGT=1;VC=SNV;PM;S3D;NSM;REF;OTHERKG;LSD;CLNALLE=1,2;CLNHGVS=NC_000003.11:g.178952090G>A,NC_000003.11:g.178952090G>C;CLNSRC=.,.;CLNORIGIN=2,2;CLNSRCID=.,.;CLNSIG=255,255;CLNDSDB=.,.;CLNDSDBID=.,.;CLNDBN=.,.;CLNACC=.,. +4 1803564 rs121913482 C T . . RSPOS=1803564;dbSNPBuildID=133;SSR=0;SAO=3;VP=050060000a01000002110120;GENEINFO=FGFR3:2261;WGT=1;VC=SNV;PM;NSM;REF;OTHERKG;LSD;OM;CLNALLE=1;CLNHGVS=NC_000004.11:g.1803564C>T;CLNSRC=OMIM Allelic Variant;CLNORIGIN=1;CLNSRCID=134934.0005;CLNSIG=5|255|5|255|255;CLNDSDB=GeneReviews:NCBI:OMIM:Orphanet|.|.|.|.;CLNDSDBID=NBK1366:C1868678:187600:85165|.|.|.|.;CLNDBN=Thanatophoric dysplasia type 1|Multiple myeloma\x2c somatic|Skeletal dysplasia with acanthosis nigricans|Nevus\x2c epidermal\x2c somatic|Keratosis\x2c seborrheic\x2c somatic;CLNACC=RCV000017731.1|RCV000017732.1|RCV000017733.1|RCV000017734.1|RCV000017735.1 +4 1803568 rs121913483 C G . . RSPOS=1803568;dbSNPBuildID=133;SSR=0;SAO=3;VP=050060000a01000002110120;GENEINFO=FGFR3:2261;WGT=1;VC=SNV;PM;NSM;REF;OTHERKG;LSD;OM;CLNALLE=1;CLNHGVS=NC_000004.11:g.1803568C>G;CLNSRC=OMIM Allelic Variant;CLNORIGIN=2;CLNSRCID=134934.0013;CLNSIG=5|255|255|255;CLNDSDB=GeneReviews:NCBI:OMIM:Orphanet|.|.|.;CLNDSDBID=NBK1366:C1868678:187600:85165|.|.|.;CLNDBN=Thanatophoric dysplasia type 1|Cervical cancer\x2c somatic|Bladder cancer\x2c somatic|Keratosis\x2c seborrheic\x2c somatic;CLNACC=RCV000017742.1|RCV000017743.1|RCV000017744.1|RCV000017745.1 +4 1803571 rs4647924 C G . . RSPOS=1803571;dbSNPBuildID=111;SSR=0;SAO=1;VP=050060000a01000502110100;GENEINFO=FGFR3:2261;WGT=1;VC=SNV;PM;NSM;REF;HD;GNO;OTHERKG;LSD;OM;CLNALLE=1;CLNHGVS=NC_000004.11:g.1803571C>G;CLNSRC=OMIM Allelic Variant;CLNORIGIN=1;CLNSRCID=134934.0014;CLNSIG=5|5|5;CLNDSDB=GeneReviews:GeneReviews:NCBI:OMIM:Orphanet:SNOMED CT|GeneReviews:NCBI:OMIM:Orphanet:SNOMED CT|.;CLNDSDBID=NBK1415:NBK1455:C1864436:602849:53271:440350001|NBK1189:C0175699:101400:794:83015004|.;CLNDBN=Muenke syndrome|Saethre-Chotzen syndrome|Beare-Stevenson syndrome-like anomalies;CLNACC=RCV000017746.1|RCV000017747.1|RCV000017748.1 +4 1803615 rs151254213 G A . . RSPOS=1803615;dbSNPBuildID=134;SSR=0;SAO=3;VP=050068000a01000002100120;GENEINFO=FGFR3:2261;WGT=1;VC=SNV;PM;PMC;NSM;REF;OTHERKG;LSD;CLNALLE=1;CLNHGVS=NC_000004.11:g.1803615G>A;CLNSRC=.;CLNORIGIN=2;CLNSRCID=.;CLNSIG=255;CLNDSDB=.;CLNDSDBID=.;CLNDBN=.;CLNACC=. +4 1803655 rs121913115 A G . . RSPOS=1803655;dbSNPBuildID=133;SSR=0;SAO=1;VP=050060000a01000002110100;GENEINFO=FGFR3:2261;WGT=1;VC=SNV;PM;NSM;REF;OTHERKG;LSD;OM;CLNALLE=1;CLNHGVS=NC_000004.11:g.1803655A>G;CLNSRC=OMIM Allelic Variant;CLNORIGIN=1;CLNSRCID=134934.0031;CLNSIG=5;CLNDSDB=GeneReviews:NCBI:OMIM:Orphanet:SNOMED CT;CLNDSDBID=NBK1477:C0410529:146000:429:205468002;CLNDBN=Hypochondroplasia;CLNACC=RCV000017768.1 +4 1803657 rs121913114 A T . . RSPOS=1803657;dbSNPBuildID=133;SSR=0;SAO=1;VP=050060000a01000002110100;GENEINFO=FGFR3:2261;WGT=1;VC=SNV;PM;NSM;REF;OTHERKG;LSD;OM;CLNALLE=1;CLNHGVS=NC_000004.11:g.1803657A>T;CLNSRC=OMIM Allelic Variant;CLNORIGIN=1;CLNSRCID=134934.0030;CLNSIG=5|5;CLNDSDB=GeneReviews:NCBI:OMIM:Orphanet:SNOMED CT|GeneReviews:NCBI:OMIM:Orphanet:SNOMED CT;CLNDSDBID=NBK1152:C0001080:100800:15:86268005|NBK1477:C0410529:146000:429:205468002;CLNDBN=Achondroplasia|Hypochondroplasia;CLNACC=RCV000017766.1|RCV000017767.1 +4 1806092 rs121913484 A T . . RSPOS=1806092;dbSNPBuildID=133;SSR=0;SAO=3;VP=050060080a01000002110120;GENEINFO=FGFR3:2261;WGT=1;VC=SNV;PM;NSM;REF;INT;OTHERKG;LSD;OM;CLNALLE=1;CLNHGVS=NC_000004.11:g.1806092A>T;CLNSRC=OMIM Allelic Variant;CLNORIGIN=2;CLNSRCID=134934.0006;CLNSIG=5;CLNDSDB=GeneReviews:NCBI:OMIM:Orphanet;CLNDSDBID=NBK1366:C1868678:187600:85165;CLNDBN=Thanatophoric dysplasia type 1;CLNACC=RCV000017736.1 +4 1806099 rs121913485 A G . . RSPOS=1806099;dbSNPBuildID=133;SSR=0;SAO=3;VP=050060080a01000002110120;GENEINFO=FGFR3:2261;WGT=1;VC=SNV;PM;NSM;REF;INT;OTHERKG;LSD;OM;CLNALLE=1;CLNHGVS=NC_000004.11:g.1806099A>G;CLNSRC=OMIM Allelic Variant;CLNORIGIN=1;CLNSRCID=134934.0016;CLNSIG=5;CLNDSDB=GeneReviews:NCBI:OMIM:Orphanet;CLNDSDBID=NBK1366:C1868678:187600:85165;CLNDBN=Thanatophoric dysplasia type 1;CLNACC=RCV000017751.1 +4 1806104 rs75790268 G T . . RSPOS=1806104;RV;dbSNPBuildID=131;SSR=0;SAO=1;VP=050060080a01000402110100;GENEINFO=FGFR3:2261;WGT=1;VC=SNV;PM;NSM;REF;INT;HD;OTHERKG;LSD;OM;CLNALLE=1;CLNHGVS=NC_000004.11:g.1806104G>T;CLNSRC=OMIM Allelic Variant;CLNORIGIN=1;CLNSRCID=134934.0003;CLNSIG=5;CLNDSDB=GeneReviews:NCBI:OMIM:Orphanet:SNOMED CT;CLNDSDBID=NBK1152:C0001080:100800:15:86268005;CLNDBN=Achondroplasia;CLNACC=RCV000017727.1 +4 1806111 rs267606809 T G . . RSPOS=1806111;dbSNPBuildID=136;SSR=0;SAO=0;VP=050060080a01000002110100;GENEINFO=FGFR3:2261;WGT=1;VC=SNV;PM;NSM;REF;INT;OTHERKG;LSD;OM;CLNALLE=1;CLNHGVS=NC_000004.11:g.1806111T>G;CLNSRC=OMIM Allelic Variant;CLNORIGIN=.;CLNSRCID=134934.0027;CLNSIG=5;CLNDSDB=GeneReviews:NCBI:OMIM:Orphanet:SNOMED CT;CLNDSDBID=NBK1152:C0001080:100800:15:86268005;CLNDBN=Achondroplasia;CLNACC=RCV000017763.1 +4 1806119 rs28931614 G A,C . . RSPOS=1806119;dbSNPBuildID=132;SSR=0;SAO=0;VP=050060080a01000002110100;GENEINFO=FGFR3:2261;WGT=1;VC=SNV;PM;NSM;REF;INT;OTHERKG;LSD;OM;CLNALLE=1,2,-1;CLNHGVS=NC_000004.11:g.1806119G>A,NC_000004.11:g.1806119G>C,NC_000004.11:g.1806119G>M;CLNSRC=OMIM Allelic Variant,.,.;CLNORIGIN=.,.,.;CLNSRCID=134934.0001,.,.;CLNSIG=5|1,5,5;CLNDSDB=GeneReviews:NCBI:OMIM:Orphanet:SNOMED CT|.,.,.;CLNDSDBID=NBK1152:C0001080:100800:15:86268005|.,.,.;CLNDBN=Achondroplasia|Nevus\x2c epidermal\x2c somatic,.,.;CLNACC=RCV000017724.1|RCV000029207.1,.,. +4 1806153 rs28931615 C A . . RSPOS=1806153;dbSNPBuildID=132;SSR=0;SAO=1;VP=050060080a01000002110100;GENEINFO=FGFR3:2261;WGT=1;VC=SNV;PM;NSM;REF;INT;OTHERKG;LSD;OM;CLNALLE=1;CLNHGVS=NC_000004.11:g.1806153C>A;CLNSRC=OMIM Allelic Variant;CLNORIGIN=1;CLNSRCID=134934.0011;CLNSIG=5;CLNDSDB=GeneReviews:NCBI:OMIM:Orphanet;CLNDSDBID=NBK1455:C2677099:612247:93262;CLNDBN=Crouzon syndrome with acanthosis nigricans;CLNACC=RCV000017726.1 +4 1807849 rs104886005 C G . . RSPOS=1807849;dbSNPBuildID=132;SSR=0;SAO=3;VP=050260000a01000002100120;GENEINFO=FGFR3:2261;WGT=1;VC=SNV;PM;S3D;NSM;REF;OTHERKG;LSD;CLNALLE=1;CLNHGVS=NC_000004.11:g.1807849C>G;CLNSRC=.;CLNORIGIN=2;CLNSRCID=.;CLNSIG=255;CLNDSDB=.;CLNDSDBID=.;CLNDBN=.;CLNACC=. +4 1807876 rs104886006 C T . . RSPOS=1807876;dbSNPBuildID=132;SSR=0;SAO=3;VP=050260000301000002100120;GENEINFO=FGFR3:2261;WGT=1;VC=SNV;PM;S3D;REF;SYN;OTHERKG;LSD;CLNALLE=1;CLNHGVS=NC_000004.11:g.1807876C>T;CLNSRC=.;CLNORIGIN=2;CLNSRCID=.;CLNSIG=255;CLNDSDB=.;CLNDSDBID=.;CLNDBN=.;CLNACC=. +4 1807889 rs78311289 A C,G . . RSPOS=1807889;dbSNPBuildID=131;SSR=0;SAO=3;VP=050260000a01000402110120;GENEINFO=FGFR3:2261;WGT=1;VC=SNV;PM;S3D;NSM;REF;HD;OTHERKG;LSD;OM;CLNALLE=1,2;CLNHGVS=NC_000004.11:g.1807889A>C,NC_000004.11:g.1807889A>G;CLNSRC=OMIM Allelic Variant,OMIM Allelic Variant;CLNORIGIN=1,1;CLNSRCID=134934.0022,134934.0004;CLNSIG=5,5|255|255;CLNDSDB=GeneReviews:NCBI:OMIM:Orphanet:SNOMED CT,GeneReviews:NCBI:OMIM:SNOMED CT|.|.;CLNDSDBID=NBK1477:C0410529:146000:429:205468002,NBK1366:C1300257:187601:389158007|.|.;CLNDBN=Hypochondroplasia,Thanatophoric dysplasia\x2c type 2|Multiple myeloma\x2c somatic|Spermatocytic seminoma\x2c somatic;CLNACC=RCV000017757.1,RCV000017728.1|RCV000017729.1|RCV000017730.1 +4 1807890 rs121913105 A T . . RSPOS=1807890;dbSNPBuildID=133;SSR=0;SAO=1;VP=050260000a01000002110100;GENEINFO=FGFR3:2261;WGT=1;VC=SNV;PM;S3D;NSM;REF;OTHERKG;LSD;OM;CLNALLE=1;CLNHGVS=NC_000004.11:g.1807890A>T;CLNSRC=OMIM Allelic Variant;CLNORIGIN=1;CLNSRCID=134934.0015;CLNSIG=5|5;CLNDSDB=NCBI|GeneReviews:NCBI:OMIM:Orphanet;CLNDSDBID=C2674173|NBK1366:C1868678:187600:85165;CLNDBN=Achondroplasia\x2c severe\x2c with developmental delay and acanthosis nigricans|Thanatophoric dysplasia type 1;CLNACC=RCV000017749.1|RCV000017750.1 +4 1807891 rs28928868 G C,T . . RSPOS=1807891;dbSNPBuildID=131;SSR=0;SAO=0;VP=050260000a01000402110100;GENEINFO=FGFR3:2261;WGT=1;VC=SNV;PM;S3D;NSM;REF;HD;OTHERKG;LSD;OM;CLNALLE=1,2;CLNHGVS=NC_000004.11:g.1807891G>C,NC_000004.11:g.1807891G>T;CLNSRC=.,.;CLNORIGIN=.,.;CLNSRCID=.,.;CLNSIG=5,1;CLNDSDB=.,.;CLNDSDBID=.,.;CLNDBN=.,.;CLNACC=.,. +4 1808331 rs121913480 G T . . RSPOS=1808331;dbSNPBuildID=133;SSR=0;SAO=3;VP=050260000a01000002100120;GENEINFO=FGFR3:2261;WGT=1;VC=SNV;PM;S3D;NSM;REF;OTHERKG;LSD;CLNALLE=1;CLNHGVS=NC_000004.11:g.1808331G>T;CLNSRC=.;CLNORIGIN=2;CLNSRCID=.;CLNSIG=255;CLNDSDB=.;CLNDSDBID=.;CLNDBN=.;CLNACC=. +4 1808371 rs104886023 G T . . RSPOS=1808371;dbSNPBuildID=132;SSR=0;SAO=3;VP=050260000a01000002110120;GENEINFO=FGFR3:2261;WGT=1;VC=SNV;PM;S3D;NSM;REF;OTHERKG;LSD;OM;CLNALLE=1;CLNHGVS=NC_000004.11:g.1808371G>T;CLNSRC=.;CLNORIGIN=2;CLNSRCID=.;CLNSIG=255;CLNDSDB=.;CLNDSDBID=.;CLNDBN=.;CLNACC=. +4 1808377 rs104886024 G A . . RSPOS=1808377;dbSNPBuildID=132;SSR=0;SAO=3;VP=050260000a01000002100120;GENEINFO=FGFR3:2261;WGT=1;VC=SNV;PM;S3D;NSM;REF;OTHERKG;LSD;CLNALLE=1;CLNHGVS=NC_000004.11:g.1808377G>A;CLNSRC=.;CLNORIGIN=2;CLNSRCID=.;CLNSIG=255;CLNDSDB=.;CLNDSDBID=.;CLNDBN=.;CLNACC=. +4 1808948 rs121913481 CT CGA . . RSPOS=1808949;dbSNPBuildID=133;SSR=0;SAO=3;VP=050060001201000002100220;GENEINFO=FGFR3:2261;WGT=1;VC=DIV;PM;NSF;REF;OTHERKG;LSD;CLNALLE=1;CLNHGVS=NC_000004.11:g.1808949delinsGA;CLNSRC=.;CLNORIGIN=2;CLNSRCID=.;CLNSIG=255;CLNDSDB=.;CLNDSDBID=.;CLNDBN=.;CLNACC=. +4 1808987 rs121913101 T A,G . . RSPOS=1808987;dbSNPBuildID=133;SSR=0;SAO=1;VP=050060000201000002110100;GENEINFO=FGFR3:2261;WGT=1;VC=SNV;PM;REF;OTHERKG;LSD;OM;CLNALLE=1,2;CLNHGVS=NC_000004.11:g.1808987T>A,NC_000004.11:g.1808987T>G;CLNSRC=.,OMIM Allelic Variant;CLNORIGIN=1,1;CLNSRCID=.,134934.0007;CLNSIG=4,5;CLNDSDB=.,GeneReviews:NCBI:OMIM:Orphanet;CLNDSDBID=.,NBK1366:C1868678:187600:85165;CLNDBN=.,Thanatophoric dysplasia type 1;CLNACC=.,RCV000017737.1 +4 1808989 rs121913103 A T . . RSPOS=1808989;dbSNPBuildID=133;SSR=0;SAO=1;VP=050060000201000002110100;GENEINFO=FGFR3:2261;WGT=1;VC=SNV;PM;REF;OTHERKG;LSD;OM;CLNALLE=1;CLNHGVS=NC_000004.11:g.1808989A>T;CLNSRC=OMIM Allelic Variant;CLNORIGIN=1;CLNSRCID=134934.0009;CLNSIG=5;CLNDSDB=GeneReviews:NCBI:OMIM:Orphanet;CLNDSDBID=NBK1366:C1868678:187600:85165;CLNDBN=Thanatophoric dysplasia type 1;CLNACC=RCV000017739.1 +4 55141018 rs121908589 A G . . RSPOS=55141018;dbSNPBuildID=133;SSR=0;SAO=1;VP=050060000a01000002110100;GENEINFO=PDGFRA:5156;WGT=1;VC=SNV;PM;NSM;REF;OTHERKG;LSD;OM;CLNALLE=1;CLNHGVS=NC_000004.11:g.55141018A>G;CLNSRC=OMIM Allelic Variant;CLNORIGIN=1;CLNSRCID=173490.0010;CLNSIG=5;CLNDSDB=.;CLNDSDBID=.;CLNDBN=Gastrointestinal stromal tumor\x2c familial;CLNACC=RCV000014511.1 +4 55141036 rs121908586 T A . . RSPOS=55141036;dbSNPBuildID=133;SSR=0;SAO=3;VP=050060000a01000002110120;GENEINFO=PDGFRA:5156;WGT=1;VC=SNV;PM;NSM;REF;OTHERKG;LSD;OM;CLNALLE=1;CLNHGVS=NC_000004.11:g.55141036T>A;CLNSRC=OMIM Allelic Variant;CLNORIGIN=1;CLNSRCID=173490.0004;CLNSIG=255|5;CLNDSDB=.|.;CLNDSDBID=.|.;CLNDBN=Gastrointestinal stromal tumor\x2c somatic|Gastrointestinal stromal tumor\x2c familial;CLNACC=RCV000014504.1|RCV000014505.1 +4 55141049 rs121913271 CAGCCCAGATGGACATGAA CCGC . . RSPOS=55141050;dbSNPBuildID=133;SSR=0;SAO=3;VP=050060000201000002100220;GENEINFO=PDGFRA:5156;WGT=1;VC=DIV;PM;REF;OTHERKG;LSD;CLNALLE=1;CLNHGVS=NC_000004.11:g.55141050_55141067delinsCGC;CLNSRC=.;CLNORIGIN=2;CLNSRCID=.;CLNSIG=255;CLNDSDB=.;CLNDSDBID=.;CLNDBN=.;CLNACC=. +4 55141050 rs121913270 AGCCCAGATGGACATG A . . RSPOS=55141051;dbSNPBuildID=133;SSR=0;SAO=0;VP=050060000201000002100200;GENEINFO=PDGFRA:5156;WGT=1;VC=DIV;PM;REF;OTHERKG;LSD;CLNALLE=1;CLNHGVS=NC_000004.11:g.55141051_55141065delGCCCAGATGGACATG;CLNSRC=.;CLNORIGIN=2;CLNSRCID=.;CLNSIG=255;CLNDSDB=.;CLNDSDBID=.;CLNDBN=.;CLNACC=. +4 55144547 rs121908587 C T . . RSPOS=55144547;dbSNPBuildID=133;SSR=0;SAO=1;VP=050260000a01000002110100;GENEINFO=PDGFRA:5156;WGT=1;VC=SNV;PM;S3D;NSM;REF;OTHERKG;LSD;OM;CLNALLE=1;CLNHGVS=NC_000004.11:g.55144547C>T;CLNSRC=OMIM Allelic Variant;CLNORIGIN=1;CLNSRCID=173490.0008;CLNSIG=5;CLNDSDB=.;CLNDSDBID=.;CLNDBN=Hypereosinophilic syndrome\x2c idiopathic\x2c resistant to imatinib;CLNACC=RCV000014509.1 +4 55152088 rs121913269 CAGAGAC C . . RSPOS=55152089;dbSNPBuildID=133;SSR=0;SAO=0;VP=050060000001000002100200;GENEINFO=PDGFRA:5156;WGT=1;VC=DIV;PM;OTHERKG;LSD;CLNALLE=1;CLNHGVS=NC_000004.11:g.55152089_55152094delAGAGAC;CLNSRC=.;CLNORIGIN=2;CLNSRCID=.;CLNSIG=255;CLNDSDB=.;CLNDSDBID=.;CLNDBN=.;CLNACC=. +4 55152091 rs121913264 AGA AAT . . RSPOS=55152092;dbSNPBuildID=133;SSR=0;SAO=3;VP=050260000a01000002100820;GENEINFO=PDGFRA:5156;WGT=1;VC=MNV;PM;S3D;NSM;REF;OTHERKG;LSD;CLNALLE=1;CLNHGVS=NC_000004.11:g.55152092_55152093delinsAT;CLNSRC=.;CLNORIGIN=2;CLNSRCID=.;CLNSIG=255;CLNDSDB=.;CLNDSDBID=.;CLNDBN=.;CLNACC=. +4 55152091 rs121913262 AGACATCATG A . . RSPOS=55152092;dbSNPBuildID=133;SSR=0;SAO=0;VP=050060000001000002100200;GENEINFO=PDGFRA:5156;WGT=1;VC=DIV;PM;OTHERKG;LSD;CLNALLE=1;CLNHGVS=NC_000004.11:g.55152092_55152100delGACATCATG;CLNSRC=.;CLNORIGIN=2;CLNSRCID=.;CLNSIG=255;CLNDSDB=.;CLNDSDBID=.;CLNDBN=.;CLNACC=. +4 55152091 rs121913261 AGACATCATGCAT A . . RSPOS=55152092;dbSNPBuildID=133;SSR=0;SAO=0;VP=050060000001000002100200;GENEINFO=PDGFRA:5156;WGT=1;VC=DIV;PM;OTHERKG;LSD;CLNALLE=1;CLNHGVS=NC_000004.11:g.55152092_55152103delGACATCATGCAT;CLNSRC=.;CLNORIGIN=2;CLNSRCID=.;CLNSIG=255;CLNDSDB=.;CLNDSDBID=.;CLNDBN=.;CLNACC=. +4 55152091 rs121913259 AGACATCATGCATG AA . . RSPOS=55152092;dbSNPBuildID=133;SSR=0;SAO=3;VP=050260000a01000002100220;WGT=1;VC=DIV;PM;S3D;NSM;REF;OTHERKG;LSD;CLNALLE=1;CLNHGVS=NC_000004.11:g.55152092_55152104delinsA;CLNSRC=.;CLNORIGIN=2;CLNSRCID=.;CLNSIG=255;CLNDSDB=.;CLNDSDBID=.;CLNDBN=.;CLNACC=. +4 55152092 rs121913260 GACATCATGCA GT . . RSPOS=55152093;dbSNPBuildID=133;SSR=0;SAO=3;VP=050260000a01000002100220;WGT=1;VC=DIV;PM;S3D;NSM;REF;OTHERKG;LSD;CLNALLE=1;CLNHGVS=NC_000004.11:g.55152093_55152102delinsT;CLNSRC=.;CLNORIGIN=2;CLNSRCID=.;CLNSIG=255;CLNDSDB=.;CLNDSDBID=.;CLNDBN=.;CLNACC=. +4 55152092 rs121913258 GACATCATGCATGAT GGA . . RSPOS=55152093;dbSNPBuildID=133;SSR=0;SAO=3;VP=050260000a01000002100220;WGT=1;VC=DIV;PM;S3D;NSM;REF;OTHERKG;LSD;CLNALLE=1;CLNHGVS=NC_000004.11:g.55152093_55152106delACATCATGCATGATinsGA;CLNSRC=.;CLNORIGIN=2;CLNSRCID=.;CLNSIG=255;CLNDSDB=.;CLNDSDBID=.;CLNDBN=.;CLNACC=. +4 55152093 rs121908585 A T . . RSPOS=55152093;dbSNPBuildID=133;SSR=0;SAO=3;VP=050260000a01000002110120;GENEINFO=PDGFRA:5156;WGT=1;VC=SNV;PM;S3D;NSM;REF;OTHERKG;LSD;OM;CLNALLE=1;CLNHGVS=NC_000004.11:g.55152093A>T;CLNSRC=OMIM Allelic Variant;CLNORIGIN=2;CLNSRCID=173490.0001;CLNSIG=255;CLNDSDB=.;CLNDSDBID=.;CLNDBN=Gastrointestinal stromal tumor\x2c somatic;CLNACC=RCV000014501.1 +4 55152093 rs121913257 ACATCATGCATGAT AG . . RSPOS=55152094;dbSNPBuildID=133;SSR=0;SAO=3;VP=050260000a01000002100220;WGT=1;VC=DIV;PM;S3D;NSM;REF;OTHERKG;LSD;CLNALLE=1;CLNHGVS=NC_000004.11:g.55152094_55152106delCATCATGCATGATinsG;CLNSRC=.;CLNORIGIN=2;CLNSRCID=.;CLNSIG=255;CLNDSDB=.;CLNDSDBID=.;CLNDBN=.;CLNACC=. +4 55152093 rs121913263 ACATCATGCATGATTCG AGGCC . . RSPOS=55152094;dbSNPBuildID=133;SSR=0;SAO=3;VP=050260000a01000002100220;WGT=1;VC=DIV;PM;S3D;NSM;REF;OTHERKG;LSD;CLNALLE=1;CLNHGVS=NC_000004.11:g.55152094_55152109delinsGGCC;CLNSRC=.;CLNORIGIN=2;CLNSRCID=.;CLNSIG=255;CLNDSDB=.;CLNDSDBID=.;CLNDBN=.;CLNACC=. +4 55152094 rs121913267 CATCATGCATGAT C . . RSPOS=55152095;dbSNPBuildID=133;SSR=0;SAO=0;VP=050060000001000002100200;GENEINFO=PDGFRA:5156;WGT=1;VC=DIV;PM;OTHERKG;LSD;CLNALLE=1;CLNHGVS=NC_000004.11:g.55152095_55152106delATCATGCATGAT;CLNSRC=.;CLNORIGIN=2;CLNSRCID=.;CLNSIG=255;CLNDSDB=.;CLNDSDBID=.;CLNDBN=.;CLNACC=. +4 55152095 rs121913268 ATCATGCATGATT A . . RSPOS=55152096;dbSNPBuildID=133;SSR=0;SAO=0;VP=050060000201000002100200;GENEINFO=PDGFRA:5156;WGT=1;VC=DIV;PM;REF;OTHERKG;LSD;CLNALLE=1;CLNHGVS=NC_000004.11:g.55152096_55152107delTCATGCATGATT;CLNSRC=.;CLNORIGIN=2;CLNSRCID=.;CLNSIG=255;CLNDSDB=.;CLNDSDBID=.;CLNDBN=.;CLNACC=. +4 55152101 rs121913266 CATGATTCGAA CC . . RSPOS=55152102;dbSNPBuildID=133;SSR=0;SAO=3;VP=050260000a01000002100220;WGT=1;VC=DIV;PM;S3D;NSM;REF;OTHERKG;LSD;CLNALLE=1;CLNHGVS=NC_000004.11:g.55152102_55152111delinsC;CLNSRC=.;CLNORIGIN=2;CLNSRCID=.;CLNSIG=255;CLNDSDB=.;CLNDSDBID=.;CLNDBN=.;CLNACC=. +4 55152104 rs121908588 G T . . RSPOS=55152104;dbSNPBuildID=133;SSR=0;SAO=3;VP=050260000a01000002110120;GENEINFO=PDGFRA:5156;WGT=1;VC=SNV;PM;S3D;NSM;REF;OTHERKG;LSD;OM;CLNALLE=1;CLNHGVS=NC_000004.11:g.55152104G>T;CLNSRC=OMIM Allelic Variant;CLNORIGIN=1;CLNSRCID=173490.0009;CLNSIG=5;CLNDSDB=.;CLNDSDBID=.;CLNDBN=Gastrointestinal stromal tumor\x2c familial;CLNACC=RCV000014510.1 +4 55561764 rs121913505 G A . . RSPOS=55561764;dbSNPBuildID=133;SSR=0;SAO=3;VP=050260000a01000002100120;GENEINFO=KIT:3815;WGT=1;VC=SNV;PM;S3D;NSM;REF;OTHERKG;LSD;CLNALLE=1;CLNHGVS=NC_000004.11:g.55561764G>A;CLNSRC=.;CLNORIGIN=2;CLNSRCID=.;CLNSIG=255;CLNDSDB=.;CLNDSDBID=.;CLNDBN=.;CLNACC=. +4 55593581 rs121913234 GAAACCCATGTATGAAGTACAGTGGAAG G . . RSPOS=55593582;dbSNPBuildID=133;SSR=0;SAO=0;VP=050060000001000002100200;GENEINFO=KIT:3815;WGT=1;VC=DIV;PM;OTHERKG;LSD;CLNALLE=1;CLNHGVS=NC_000004.11:g.55593582_55593608del27;CLNSRC=.;CLNORIGIN=2;CLNSRCID=.;CLNSIG=255;CLNDSDB=.;CLNDSDBID=.;CLNDBN=.;CLNACC=. +4 55593603 rs121913235 T A,C,G . . RSPOS=55593603;dbSNPBuildID=133;SSR=0;SAO=3;VP=050060000a01000002100124;GENEINFO=KIT:3815;WGT=1;VC=SNV;PM;NSM;REF;OTHERKG;LSD;NOV;CLNALLE=1,2,3;CLNHGVS=NC_000004.11:g.55593603T>A,NC_000004.11:g.55593603T>C,NC_000004.11:g.55593603T>G;CLNSRC=.,.,.;CLNORIGIN=2,2,2;CLNSRCID=.,.,.;CLNSIG=255,255,255;CLNDSDB=.,.,.;CLNDSDBID=.,.,.;CLNDBN=.,.,.;CLNACC=.,.,. +4 55593605 rs121913511 GAAGGTTGTT G . . RSPOS=55593606;dbSNPBuildID=133;SSR=0;SAO=0;VP=050060000001000002100200;GENEINFO=KIT:3815;WGT=1;VC=DIV;PM;OTHERKG;LSD;CLNALLE=1;CLNHGVS=NC_000004.11:g.55593606_55593614delAAGGTTGTT;CLNSRC=.;CLNORIGIN=2;CLNSRCID=.;CLNSIG=255;CLNDSDB=.;CLNDSDBID=.;CLNDBN=.;CLNACC=. +4 55593605 rs121913510 GAAGGTTGTTGAGGAG G . . RSPOS=55593606;dbSNPBuildID=133;SSR=0;SAO=0;VP=050060000001000002100200;GENEINFO=KIT:3815;WGT=1;VC=DIV;PM;OTHERKG;LSD;CLNALLE=1;CLNHGVS=NC_000004.11:g.55593606_55593620delAAGGTTGTTGAGGAG;CLNSRC=.;CLNORIGIN=2;CLNSRCID=.;CLNSIG=255;CLNDSDB=.;CLNDSDBID=.;CLNDBN=.;CLNACC=. +4 55593608 rs121913685 GGTT G . . RSPOS=55593609;dbSNPBuildID=133;SSR=0;SAO=0;VP=050060000001000002110200;GENEINFO=KIT:3815;WGT=1;VC=DIV;PM;OTHERKG;LSD;OM;CLNALLE=1;CLNHGVS=NC_000004.11:g.55593609_55593611delGTT;CLNSRC=OMIM Allelic Variant;CLNORIGIN=1;CLNSRCID=164920.0017;CLNSIG=5;CLNDSDB=.;CLNDSDBID=.;CLNDBN=Gastrointestinal stromal tumor\x2c familial;CLNACC=RCV000014873.1 +4 55593609 rs121913520 G A . . RSPOS=55593609;dbSNPBuildID=133;SSR=0;SAO=3;VP=050060000a01000002100120;GENEINFO=KIT:3815;WGT=1;VC=SNV;PM;NSM;REF;OTHERKG;LSD;CLNALLE=1;CLNHGVS=NC_000004.11:g.55593609G>A;CLNSRC=.;CLNORIGIN=2;CLNSRCID=.;CLNSIG=255;CLNDSDB=.;CLNDSDBID=.;CLNDBN=.;CLNACC=. +4 55593610 rs121913517 T A,C,G . . RSPOS=55593610;dbSNPBuildID=133;SSR=0;SAO=3;VP=050060000a01000002110124;GENEINFO=KIT:3815;WGT=1;VC=SNV;PM;NSM;REF;OTHERKG;LSD;OM;NOV;CLNALLE=1,2,3;CLNHGVS=NC_000004.11:g.55593610T>A,NC_000004.11:g.55593610T>C,NC_000004.11:g.55593610T>G;CLNSRC=OMIM Allelic Variant,OMIM Allelic Variant,.;CLNORIGIN=2,2,2;CLNSRCID=164920.0014,164920.0023,.;CLNSIG=255,5,255;CLNDSDB=.,.,.;CLNDSDBID=.,.,.;CLNDBN=Gastrointestinal stromal tumor\x2c somatic,Gastrointestinal stromal tumor\x2c familial,.;CLNACC=RCV000014870.1,RCV000014879.1,. +4 55593613 rs121913521 T A,G . . RSPOS=55593613;dbSNPBuildID=133;SSR=0;SAO=3;VP=050060000a01000002100120;GENEINFO=KIT:3815;WGT=1;VC=SNV;PM;NSM;REF;OTHERKG;LSD;CLNALLE=1,2;CLNHGVS=NC_000004.11:g.55593613T>A,NC_000004.11:g.55593613T>G;CLNSRC=.,.;CLNORIGIN=2,2;CLNSRCID=.,.;CLNSIG=255,255;CLNDSDB=.,.;CLNDSDBID=.,.;CLNDBN=.,.;CLNACC=.,. +4 55593661 rs121913513 T C . . RSPOS=55593661;dbSNPBuildID=133;SSR=0;SAO=3;VP=050060000a01000002100120;GENEINFO=KIT:3815;WGT=1;VC=SNV;PM;NSM;REF;OTHERKG;LSD;CLNALLE=1;CLNHGVS=NC_000004.11:g.55593661T>C;CLNSRC=.;CLNORIGIN=2;CLNSRCID=.;CLNSIG=255;CLNDSDB=.;CLNDSDBID=.;CLNDBN=.;CLNACC=. +4 55593681 rs121913680 G A . . RSPOS=55593681;dbSNPBuildID=133;SSR=0;SAO=1;VP=050060000a01000002110100;GENEINFO=KIT:3815;WGT=1;VC=SNV;PM;NSM;REF;OTHERKG;LSD;OM;CLNALLE=1;CLNHGVS=NC_000004.11:g.55593681G>A;CLNSRC=OMIM Allelic Variant;CLNORIGIN=1;CLNSRCID=164920.0006;CLNSIG=5;CLNDSDB=NCBI:OMIM:Orphanet:SNOMED CT;CLNDSDBID=C0080024:172800:2884:6479008;CLNDBN=Partial albinism;CLNACC=RCV000014861.1 +4 55593685 rs28933371 T G . . RSPOS=55593685;dbSNPBuildID=132;SSR=0;SAO=1;VP=050060000a01000002110100;GENEINFO=KIT:3815;WGT=1;VC=SNV;PM;NSM;REF;OTHERKG;LSD;OM;CLNALLE=1;CLNHGVS=NC_000004.11:g.55593685T>G;CLNSRC=OMIM Allelic Variant;CLNORIGIN=1;CLNSRCID=164920.0022;CLNSIG=5;CLNDSDB=NCBI:OMIM:Orphanet:SNOMED CT;CLNDSDBID=C0080024:172800:2884:6479008;CLNDBN=Partial albinism;CLNACC=RCV000014878.1 +4 55593689 rs121913515 C T . . RSPOS=55593689;dbSNPBuildID=133;SSR=0;SAO=3;VP=050060000301000002100120;GENEINFO=KIT:3815;WGT=1;VC=SNV;PM;REF;SYN;OTHERKG;LSD;CLNALLE=1;CLNHGVS=NC_000004.11:g.55593689C>T;CLNSRC=.;CLNORIGIN=2;CLNSRCID=.;CLNSIG=255;CLNDSDB=.;CLNDSDBID=.;CLNDBN=.;CLNACC=. +4 55594221 rs121913512 A G . . RSPOS=55594221;dbSNPBuildID=133;SSR=0;SAO=3;VP=050060000a01000002110120;GENEINFO=KIT:3815;WGT=1;VC=SNV;PM;NSM;REF;OTHERKG;LSD;OM;CLNALLE=1;CLNHGVS=NC_000004.11:g.55594221A>G;CLNSRC=OMIM Allelic Variant;CLNORIGIN=1;CLNSRCID=164920.0024;CLNSIG=5;CLNDSDB=.;CLNDSDBID=.;CLNDBN=Gastrointestinal stromal tumor\x2c familial;CLNACC=RCV000014880.1 +4 55594258 rs121913523 T C . . RSPOS=55594258;dbSNPBuildID=133;SSR=0;SAO=3;VP=050060000a01000002100120;GENEINFO=KIT:3815;WGT=1;VC=SNV;PM;NSM;REF;OTHERKG;LSD;CLNALLE=1;CLNHGVS=NC_000004.11:g.55594258T>C;CLNSRC=.;CLNORIGIN=2;CLNSRCID=.;CLNSIG=255;CLNDSDB=.;CLNDSDBID=.;CLNDBN=.;CLNACC=. +4 55594287 rs121913679 G A . . RSPOS=55594287;dbSNPBuildID=133;SSR=0;SAO=1;VP=050060000a01000002110100;GENEINFO=KIT:3815;WGT=1;VC=SNV;PM;NSM;REF;OTHERKG;LSD;OM;CLNALLE=1;CLNHGVS=NC_000004.11:g.55594287G>A;CLNSRC=OMIM Allelic Variant;CLNORIGIN=1;CLNSRCID=164920.0001;CLNSIG=5;CLNDSDB=NCBI:OMIM:Orphanet:SNOMED CT;CLNDSDBID=C0080024:172800:2884:6479008;CLNDBN=Partial albinism;CLNACC=RCV000014855.1 +4 55595519 rs121913516 C T . . RSPOS=55595519;dbSNPBuildID=133;SSR=0;SAO=3;VP=050060000a01000002100120;GENEINFO=KIT:3815;WGT=1;VC=SNV;PM;NSM;REF;OTHERKG;LSD;CLNALLE=1;CLNHGVS=NC_000004.11:g.55595519C>T;CLNSRC=.;CLNORIGIN=2;CLNSRCID=.;CLNSIG=255;CLNDSDB=.;CLNDSDBID=.;CLNDBN=.;CLNACC=. +4 55599320 rs121913506 G C,T . . RSPOS=55599320;dbSNPBuildID=133;SSR=0;SAO=3;VP=050060000a01000002110120;GENEINFO=KIT:3815;WGT=1;VC=SNV;PM;NSM;REF;OTHERKG;LSD;OM;CLNALLE=1,2;CLNHGVS=NC_000004.11:g.55599320G>C,NC_000004.11:g.55599320G>T;CLNSRC=OMIM Allelic Variant,OMIM Allelic Variant;CLNORIGIN=1,2;CLNSRCID=164920.0021,164920.0018;CLNSIG=255,5;CLNDSDB=NCBI:OMIM:OMIM:Orphanet:SNOMED CT,.;CLNDSDBID=C0153594:273300:605288:842:363449006,.;CLNDBN=Malignant tumor of testis,Leukemia\x2c acute myeloid;CLNACC=RCV000014877.1,RCV000014874.1 +4 55599321 rs121913507 A T . . RSPOS=55599321;dbSNPBuildID=133;SSR=0;SAO=3;VP=050060000a01000002110120;GENEINFO=KIT:3815;WGT=1;VC=SNV;PM;NSM;REF;OTHERKG;LSD;OM;CLNALLE=1;CLNHGVS=NC_000004.11:g.55599321A>T;CLNSRC=OMIM Allelic Variant;CLNORIGIN=1;CLNSRCID=164920.0009;CLNSIG=5|5|5;CLNDSDB=NCBI|.|.;CLNDSDBID=C0023461|.|.;CLNDBN=Mast cell leukemia|Mastocytosis with associated hematologic disorder|Mastocytosis\x2c adult sporadic;CLNACC=RCV000014864.1|RCV000014865.1|RCV000014866.1 +4 55599333 rs121913682 A G . . RSPOS=55599333;dbSNPBuildID=133;SSR=0;SAO=1;VP=050060000a01000002110100;GENEINFO=KIT:3815;WGT=1;VC=SNV;PM;NSM;REF;OTHERKG;LSD;OM;CLNALLE=1;CLNHGVS=NC_000004.11:g.55599333A>G;CLNSRC=OMIM Allelic Variant;CLNORIGIN=1;CLNSRCID=164920.0010;CLNSIG=5;CLNDSDB=NCBI;CLNDSDBID=C0221013;CLNDBN=Mast cell disease\x2c systemic;CLNACC=RCV000014867.1 +4 55599340 rs121913514 T A . . RSPOS=55599340;dbSNPBuildID=133;SSR=0;SAO=3;VP=050060000a01000002100120;GENEINFO=KIT:3815;WGT=1;VC=SNV;PM;NSM;REF;OTHERKG;LSD;CLNALLE=1;CLNHGVS=NC_000004.11:g.55599340T>A;CLNSRC=.;CLNORIGIN=2;CLNSRCID=.;CLNSIG=255;CLNDSDB=.;CLNDSDBID=.;CLNDBN=.;CLNACC=. +4 55599348 rs121913524 T C . . RSPOS=55599348;dbSNPBuildID=133;SSR=0;SAO=3;VP=050060000a01000002100120;GENEINFO=KIT:3815;WGT=1;VC=SNV;PM;NSM;REF;OTHERKG;LSD;CLNALLE=1;CLNHGVS=NC_000004.11:g.55599348T>C;CLNSRC=.;CLNORIGIN=2;CLNSRCID=.;CLNSIG=255;CLNDSDB=.;CLNDSDBID=.;CLNDBN=.;CLNACC=. +4 55602694 rs121913509 G A . . RSPOS=55602694;dbSNPBuildID=133;SSR=0;SAO=3;VP=050060000a01000002110120;GENEINFO=KIT:3815;WGT=1;VC=SNV;PM;NSM;REF;OTHERKG;LSD;OM;CLNALLE=1;CLNHGVS=NC_000004.11:g.55602694G>A;CLNSRC=OMIM Allelic Variant;CLNORIGIN=1;CLNSRCID=164920.0020;CLNSIG=5;CLNDSDB=.;CLNDSDBID=.;CLNDBN=Mastocytosis\x2c sporadic\x2c childhood-onset;CLNACC=RCV000014876.1 +4 55602718 rs121913687 A C . . RSPOS=55602718;dbSNPBuildID=133;SSR=0;SAO=1;VP=050060000a01000002110100;GENEINFO=KIT:3815;WGT=1;VC=SNV;PM;NSM;REF;OTHERKG;LSD;OM;CLNALLE=1;CLNHGVS=NC_000004.11:g.55602718A>C;CLNSRC=OMIM Allelic Variant;CLNORIGIN=1;CLNSRCID=164920.0019;CLNSIG=5;CLNDSDB=NCBI:OMIM:Orphanet:SNOMED CT;CLNDSDBID=C0080024:172800:2884:6479008;CLNDBN=Partial albinism;CLNACC=RCV000014875.1 +4 55955106 rs121917766 G A . . RSPOS=55955106;RV;dbSNPBuildID=133;SSR=0;SAO=1;VP=050060000a01000002110100;GENEINFO=KDR:3791;WGT=1;VC=SNV;PM;NSM;REF;OTHERKG;LSD;OM;CLNALLE=1;CLNHGVS=NC_000004.11:g.55955106G>A;CLNSRC=OMIM Allelic Variant;CLNORIGIN=1;CLNSRCID=191306.0001;CLNSIG=255;CLNDSDB=.;CLNDSDBID=.;CLNDBN=Hemangioma\x2c capillary infantile\x2c somatic;CLNACC=RCV000013110.1 +4 55972946 rs34231037 A G . . RSPOS=55972946;GMAF=0.0137;dbSNPBuildID=126;SSR=0;SAO=1;VP=050260000a01140516110100;GENEINFO=KDR:3791;WGT=1;VC=SNV;PM;S3D;NSM;REF;VLD;HD;GNO;KGPhase1;KGPROD;OTHERKG;LSD;OM;CLNALLE=1;CLNHGVS=NC_000004.11:g.55972946A>G;CLNSRC=OMIM Allelic Variant;CLNORIGIN=1;CLNSRCID=191306.0002;CLNSIG=255;CLNDSDB=.;CLNDSDBID=.;CLNDBN=Hemangioma\x2c capillary infantile\x2c susceptibility to;CLNACC=RCV000013111.1 +4 153247289 rs149680468 G A . . RSPOS=153247289;dbSNPBuildID=134;SSR=0;SAO=3;VP=050268000a01000002100120;GENEINFO=FBXW7:55294;WGT=1;VC=SNV;PM;PMC;S3D;NSM;REF;OTHERKG;LSD;CLNALLE=1;CLNHGVS=NC_000004.11:g.153247289G>A;CLNSRC=.;CLNORIGIN=2;CLNSRCID=.;CLNSIG=255;CLNDSDB=.;CLNDSDBID=.;CLNDBN=.;CLNACC=. +5 112174626 rs146007372 C A . . RSPOS=112174626;dbSNPBuildID=134;SSR=0;SAO=3;VP=050068000a01000002100120;GENEINFO=APC:324;WGT=1;VC=SNV;PM;PMC;NSM;REF;OTHERKG;LSD;CLNALLE=1;CLNHGVS=NC_000005.9:g.112174626C>A;CLNSRC=.;CLNORIGIN=2;CLNSRCID=.;CLNSIG=255;CLNDSDB=.;CLNDSDBID=.;CLNDBN=.;CLNACC=. +5 112174631 rs121913331 C T . . RSPOS=112174631;dbSNPBuildID=133;SSR=0;SAO=3;VP=050060000601000002100120;GENEINFO=APC:324;WGT=1;VC=SNV;PM;NSN;REF;OTHERKG;LSD;CLNALLE=1;CLNHGVS=NC_000005.9:g.112174631C>T;CLNSRC=.;CLNORIGIN=2;CLNSRCID=.;CLNSIG=255;CLNDSDB=.;CLNDSDBID=.;CLNDBN=.;CLNACC=. +5 112174650 rs28933379 G A . . RSPOS=112174650;dbSNPBuildID=133;SSR=0;SAO=1;VP=050060000a01000002110100;GENEINFO=APC:324;WGT=1;VC=SNV;PM;NSM;REF;OTHERKG;LSD;OM;CLNALLE=1;CLNHGVS=NC_000005.9:g.112174650G>A;CLNSRC=OMIM Allelic Variant;CLNORIGIN=1;CLNSRCID=611731.0010;CLNSIG=255;CLNDSDB=.;CLNDSDBID=.;CLNDBN=Gastric cancer\x2c somatic;CLNACC=RCV000000839.1 +5 112175057 rs77056664 C A . . RSPOS=112175057;dbSNPBuildID=131;SSR=0;SAO=1;VP=050060000a01000002110100;GENEINFO=APC:324;WGT=1;VC=SNV;PM;NSM;REF;OTHERKG;LSD;OM;CLNALLE=1;CLNHGVS=NC_000005.9:g.112175057C>A;CLNSRC=.;CLNORIGIN=0;CLNSRCID=.;CLNSIG=255;CLNDSDB=OMIM;CLNDSDBID=114500;CLNDBN=Familial colorectal cancer;CLNACC=. +5 112175207 rs121913462 G T . . RSPOS=112175207;dbSNPBuildID=133;SSR=0;SAO=3;VP=050060000601000002100120;GENEINFO=APC:324;WGT=1;VC=SNV;PM;NSN;REF;OTHERKG;LSD;CLNALLE=1;CLNHGVS=NC_000005.9:g.112175207G>T;CLNSRC=.;CLNORIGIN=2;CLNSRCID=.;CLNSIG=255;CLNDSDB=.;CLNDSDBID=.;CLNDBN=.;CLNACC=. +5 112175211 rs1801155 T A . . RSPOS=112175211;dbSNPBuildID=89;SSR=0;SAO=1;VP=050168000a01040002110100;GENEINFO=APC:324;WGT=1;VC=SNV;PM;PMC;SLO;NSM;REF;VLD;OTHERKG;LSD;OM;CLNALLE=1;CLNHGVS=NC_000005.9:g.112175211T>A;CLNSRC=GeneReviews|OMIM Allelic Variant;CLNORIGIN=1;CLNSRCID=NBK1345|611731.0029;CLNSIG=255|255|5;CLNDSDB=.|NCBI|GeneReviews:NCBI:OMIM:Orphanet:SNOMED CT;CLNDSDBID=.|CN068448|NBK1345:CN074282:175100:733:70921007;CLNDBN=Adenomatous polyposis coli\x2c susceptibility to|Breast cancer\x2c susceptibility to|Adenomatous polyposis coli;CLNACC=RCV000000864.1|RCV000000865.1|RCV000020088.1 +5 112175212 rs121913224 AAAAGA A . . RSPOS=112175218;dbSNPBuildID=133;SSR=0;SAO=3;VP=050168001201000002110220;GENEINFO=APC:324;WGT=1;VC=DIV;PM;PMC;SLO;NSF;REF;OTHERKG;LSD;OM;CLNALLE=1;CLNHGVS=NC_000005.9:g.112175218_112175222delAAAGA;CLNSRC=GeneReviews|OMIM Allelic Variant|OMIM Allelic Variant;CLNORIGIN=2;CLNSRCID=NBK1345|611731.0023|611731.0041;CLNSIG=5|5|5;CLNDSDB=GeneReviews:NCBI:OMIM:Orphanet:SNOMED CT|NCBI:SNOMED CT|.;CLNDSDBID=NBK1345:CN074282:175100:733:70921007|C0017097:60876000|.;CLNDBN=Adenomatous polyposis coli|Gardner syndrome|Adenomatous polyposis coli with congenital cholesteatoma;CLNACC=RCV000000856.1|RCV000000857.1|RCV000000858.1 +5 112175240 rs1801166 G C . . RSPOS=112175240;GMAF=0.0037;dbSNPBuildID=89;SSR=0;SAO=1;VP=050168000a01040516110100;GENEINFO=APC:324;WGT=1;VC=SNV;PM;PMC;SLO;NSM;REF;VLD;HD;GNO;KGPhase1;KGPROD;OTHERKG;LSD;OM;CLNALLE=1;CLNHGVS=NC_000005.9:g.112175240G>C;CLNSRC=GeneReviews|OMIM Allelic Variant;CLNORIGIN=1;CLNSRCID=NBK1345|611731.0036;CLNSIG=5;CLNDSDB=GeneReviews:NCBI:OMIM:Orphanet:SNOMED CT;CLNDSDBID=NBK1345:CN074282:175100:733:70921007;CLNDBN=Adenomatous polyposis coli;CLNACC=RCV000000872.1 +5 112175303 rs121913327 C T . . RSPOS=112175303;dbSNPBuildID=133;SSR=0;SAO=3;VP=050060000601000002110120;GENEINFO=APC:324;WGT=1;VC=SNV;PM;NSN;REF;OTHERKG;LSD;OM;CLNALLE=1;CLNHGVS=NC_000005.9:g.112175303C>T;CLNSRC=OMIM Allelic Variant;CLNORIGIN=2;CLNSRCID=611731.0009;CLNSIG=255;CLNDSDB=.;CLNDSDBID=.;CLNDBN=Colorectal cancer\x2c somatic;CLNACC=RCV000000838.1 +5 112175390 rs121913328 C T . . RSPOS=112175390;dbSNPBuildID=133;SSR=0;SAO=3;VP=050060000601000002100120;GENEINFO=APC:324;WGT=1;VC=SNV;PM;NSN;REF;OTHERKG;LSD;CLNALLE=1;CLNHGVS=NC_000005.9:g.112175390C>T;CLNSRC=.;CLNORIGIN=2;CLNSRCID=.;CLNSIG=255;CLNDSDB=.;CLNDSDBID=.;CLNDBN=.;CLNACC=. +5 112175423 rs121913329 C T . . RSPOS=112175423;dbSNPBuildID=133;SSR=0;SAO=3;VP=050060000601000002100120;GENEINFO=APC:324;WGT=1;VC=SNV;PM;NSN;REF;OTHERKG;LSD;CLNALLE=1;CLNHGVS=NC_000005.9:g.112175423C>T;CLNSRC=.;CLNORIGIN=2;CLNSRCID=.;CLNSIG=255;CLNDSDB=.;CLNDSDBID=.;CLNDBN=.;CLNACC=. +5 112175474 rs137854578 A T . . RSPOS=112175474;dbSNPBuildID=133;SSR=0;SAO=1;VP=050060000a01000002110100;GENEINFO=APC:324;WGT=1;VC=SNV;PM;NSM;REF;OTHERKG;LSD;OM;CLNALLE=1;CLNHGVS=NC_000005.9:g.112175474A>T;CLNSRC=OMIM Allelic Variant;CLNORIGIN=1;CLNSRCID=611731.0024;CLNSIG=255;CLNDSDB=.;CLNDSDBID=.;CLNDBN=Hepatoblastoma\x2c somatic;CLNACC=RCV000000859.1 +5 112175576 rs74535574 C A,T . . RSPOS=112175576;dbSNPBuildID=131;SSR=0;SAO=3;VP=050060000e01000002110120;GENEINFO=APC:324;WGT=1;VC=SNV;PM;NSM;NSN;REF;OTHERKG;LSD;OM;CLNALLE=1,2;CLNHGVS=NC_000005.9:g.112175576C>A,NC_000005.9:g.112175576C>T;CLNSRC=.,.;CLNORIGIN=0,2;CLNSRCID=.,.;CLNSIG=255,255;CLNDSDB=.,.;CLNDSDBID=.,.;CLNDBN=.,.;CLNACC=.,. +5 112175639 rs121913332 C T . . RSPOS=112175639;dbSNPBuildID=133;SSR=0;SAO=3;VP=050060000601000002100120;GENEINFO=APC:324;WGT=1;VC=SNV;PM;NSN;REF;OTHERKG;LSD;CLNALLE=1;CLNHGVS=NC_000005.9:g.112175639C>T;CLNSRC=.;CLNORIGIN=2;CLNSRCID=.;CLNSIG=255;CLNDSDB=.;CLNDSDBID=.;CLNDBN=.;CLNACC=. +5 112175676 rs121913334 AGA A . . RSPOS=112175683;dbSNPBuildID=133;SSR=0;SAO=0;VP=050060001201000002100200;GENEINFO=APC:324;WGT=1;VC=DIV;PM;NSF;REF;OTHERKG;LSD;CLNALLE=1;CLNHGVS=NC_000005.9:g.112175683_112175684delGA;CLNSRC=.;CLNORIGIN=2;CLNSRCID=.;CLNSIG=255;CLNDSDB=.;CLNDSDBID=.;CLNDBN=.;CLNACC=. +5 112175770 rs41115 G A . . RSPOS=112175770;RV;GMAF=0.3384;dbSNPBuildID=76;SSR=0;SAO=1;VP=05016800030115051f110101;GENEINFO=APC:324;WGT=1;VC=SNV;PM;PMC;SLO;REF;SYN;VLD;G5;HD;GNO;KGPhase1;KGPilot123;KGPROD;OTHERKG;PH3;LSD;OM;GCF;CLNALLE=1;CLNHGVS=NC_000005.9:g.112175770G>A;CLNSRC=.;CLNORIGIN=0;CLNSRCID=.;CLNSIG=255;CLNDSDB=OMIM;CLNDSDBID=114500;CLNDBN=Familial colorectal cancer;CLNACC=. +5 149433644 rs121913392 A T . . RSPOS=149433644;RV;dbSNPBuildID=133;SSR=0;SAO=3;VP=050060000601000002100120;GENEINFO=CSF1R:1436;WGT=1;VC=SNV;PM;NSN;REF;OTHERKG;LSD;CLNALLE=1;CLNHGVS=NC_000005.9:g.149433644A>T;CLNSRC=.;CLNORIGIN=2;CLNSRCID=.;CLNSIG=255;CLNDSDB=.;CLNDSDBID=.;CLNDBN=.;CLNACC=. +5 149433645 rs1801271 T A,C . . RSPOS=149433645;RV;dbSNPBuildID=89;SSR=0;SAO=3;VP=050160000a01000102110120;GENEINFO=CSF1R:1436;WGT=1;VC=SNV;PM;SLO;NSM;REF;GNO;OTHERKG;LSD;OM;CLNALLE=1,2;CLNHGVS=NC_000005.9:g.149433645T>A,NC_000005.9:g.149433645T>C;CLNSRC=.,.;CLNORIGIN=2,2;CLNSRCID=.,.;CLNSIG=255,255;CLNDSDB=.,.;CLNDSDBID=.,.;CLNDBN=.,.;CLNACC=.,. +5 149433646 rs121913393 A G . . RSPOS=149433646;RV;dbSNPBuildID=133;SSR=0;SAO=3;VP=050060000a01000002100120;GENEINFO=CSF1R:1436;WGT=1;VC=SNV;PM;NSM;REF;OTHERKG;LSD;CLNALLE=1;CLNHGVS=NC_000005.9:g.149433646A>G;CLNSRC=.;CLNORIGIN=2;CLNSRCID=.;CLNSIG=255;CLNDSDB=.;CLNDSDBID=.;CLNDBN=.;CLNACC=. +5 149453044 rs121913390 A G,T . . RSPOS=149453044;RV;dbSNPBuildID=133;SSR=0;SAO=3;VP=050060000e01000002100120;GENEINFO=CSF1R:1436;WGT=1;VC=SNV;PM;NSM;NSN;REF;OTHERKG;LSD;CLNALLE=1,2;CLNHGVS=NC_000005.9:g.149453044A>G,NC_000005.9:g.149453044A>T;CLNSRC=.,.;CLNORIGIN=2,2;CLNSRCID=.,.;CLNSIG=255,255;CLNDSDB=.,.;CLNDSDBID=.,.;CLNDBN=.,.;CLNACC=.,. +7 55241707 rs28929495 G A,T . . RSPOS=55241707;dbSNPBuildID=132;SSR=0;SAO=3;VP=050068000a01000002110120;GENEINFO=EGFR:1956;WGT=1;VC=SNV;PM;PMC;NSM;REF;OTHERKG;LSD;OM;CLNALLE=1,2;CLNHGVS=NC_000007.13:g.55241707G>A,NC_000007.13:g.55241707G>T;CLNSRC=OMIM Allelic Variant,OMIM Allelic Variant;CLNORIGIN=2,1;CLNSRCID=131550.0005,131550.0004;CLNSIG=6,6;CLNDSDB=.,.;CLNDSDBID=.,.;CLNDBN=Nonsmall cell lung cancer\x2c response to tyrosine kinase inhibitor in\x2c somatic,Nonsmall cell lung cancer\x2c response to tyrosine kinase inhibitor in\x2c somatic;CLNACC=RCV000018087.1,RCV000018086.1 +7 55242418 rs121913434 C T . . RSPOS=55242418;dbSNPBuildID=133;SSR=0;SAO=3;VP=050060000a01000002100120;GENEINFO=EGFR:1956;WGT=1;VC=SNV;PM;NSM;REF;OTHERKG;LSD;CLNALLE=1;CLNHGVS=NC_000007.13:g.55242418C>T;CLNSRC=.;CLNORIGIN=2;CLNSRCID=.;CLNSIG=255;CLNDSDB=.;CLNDSDBID=.;CLNDBN=.;CLNACC=. +7 55242423 rs121913467 G A . . RSPOS=55242423;dbSNPBuildID=133;SSR=0;SAO=3;VP=050060000601000002100120;GENEINFO=EGFR:1956;WGT=1;VC=SNV;PM;NSN;REF;OTHERKG;LSD;CLNALLE=1;CLNHGVS=NC_000007.13:g.55242423G>A;CLNSRC=.;CLNORIGIN=2;CLNSRCID=.;CLNSIG=255;CLNDSDB=.;CLNDSDBID=.;CLNDBN=.;CLNACC=. +7 55242428 rs121913446 C T . . RSPOS=55242428;dbSNPBuildID=133;SSR=0;SAO=3;VP=050060000a01000002100120;GENEINFO=EGFR:1956;WGT=1;VC=SNV;PM;NSM;REF;OTHERKG;LSD;CLNALLE=1;CLNHGVS=NC_000007.13:g.55242428C>T;CLNSRC=.;CLNORIGIN=2;CLNSRCID=.;CLNSIG=255;CLNDSDB=.;CLNDSDBID=.;CLNDBN=.;CLNACC=. +7 55242430 rs121913420 G A . . RSPOS=55242430;dbSNPBuildID=133;SSR=0;SAO=3;VP=050060000a01000002100120;GENEINFO=EGFR:1956;WGT=1;VC=SNV;PM;NSM;REF;OTHERKG;LSD;CLNALLE=1;CLNHGVS=NC_000007.13:g.55242430G>A;CLNSRC=.;CLNORIGIN=2;CLNSRCID=.;CLNSIG=255;CLNDSDB=.;CLNDSDBID=.;CLNDBN=.;CLNACC=. +7 55242433 rs121913430 G A . . RSPOS=55242433;dbSNPBuildID=133;SSR=0;SAO=3;VP=050060000a01000002100120;GENEINFO=EGFR:1956;WGT=1;VC=SNV;PM;NSM;REF;OTHERKG;LSD;CLNALLE=1;CLNHGVS=NC_000007.13:g.55242433G>A;CLNSRC=.;CLNORIGIN=2;CLNSRCID=.;CLNSIG=255;CLNDSDB=.;CLNDSDBID=.;CLNDBN=.;CLNACC=. +7 55242455 rs121913466 T C . . RSPOS=55242455;dbSNPBuildID=133;SSR=0;SAO=3;VP=050060000a01000002100120;GENEINFO=EGFR:1956;WGT=1;VC=SNV;PM;NSM;REF;OTHERKG;LSD;CLNALLE=1;CLNHGVS=NC_000007.13:g.55242455T>C;CLNSRC=.;CLNORIGIN=2;CLNSRCID=.;CLNSIG=255;CLNDSDB=.;CLNDSDBID=.;CLNDBN=.;CLNACC=. +7 55242464 rs121913433 A G . . RSPOS=55242464;dbSNPBuildID=133;SSR=0;SAO=3;VP=050060000a01000002100120;GENEINFO=EGFR:1956;WGT=1;VC=SNV;PM;NSM;REF;OTHERKG;LSD;CLNALLE=1;CLNHGVS=NC_000007.13:g.55242464A>G;CLNSRC=.;CLNORIGIN=2;CLNSRCID=.;CLNSIG=255;CLNDSDB=.;CLNDSDBID=.;CLNDBN=.;CLNACC=. +7 55242464 rs121913421 AGGAATTAAGAGAAGC A . . RSPOS=55242465;dbSNPBuildID=133;SSR=0;SAO=0;VP=050060000201000002100200;GENEINFO=EGFR:1956;WGT=1;VC=DIV;PM;REF;OTHERKG;LSD;CLNALLE=1;CLNHGVS=NC_000007.13:g.55242465_55242479delGGAATTAAGAGAAGC;CLNSRC=.;CLNORIGIN=2;CLNSRCID=.;CLNSIG=255;CLNDSDB=.;CLNDSDBID=.;CLNDBN=.;CLNACC=. +7 55242466 rs121913425 GAATTAAGAGAAGCAA G . . RSPOS=55242467;dbSNPBuildID=133;SSR=0;SAO=0;VP=050060000201000002100200;GENEINFO=EGFR:1956;WGT=1;VC=DIV;PM;REF;OTHERKG;LSD;CLNALLE=1;CLNHGVS=NC_000007.13:g.55242467_55242481delAATTAAGAGAAGCAA;CLNSRC=.;CLNORIGIN=2;CLNSRCID=.;CLNSIG=255;CLNDSDB=.;CLNDSDBID=.;CLNDBN=.;CLNACC=. +7 55242466 rs121913422 GAATTAAGAGAAGCAACAT G . . RSPOS=55242467;dbSNPBuildID=133;SSR=0;SAO=0;VP=050060000201000002100200;GENEINFO=EGFR:1956;WGT=1;VC=DIV;PM;REF;OTHERKG;LSD;CLNALLE=1;CLNHGVS=NC_000007.13:g.55242467_55242484del18;CLNSRC=.;CLNORIGIN=2;CLNSRCID=.;CLNSIG=255;CLNDSDB=.;CLNDSDBID=.;CLNDBN=.;CLNACC=. +7 55242466 rs121913424 GAATTAAGAGAAGCAACATCT GTC . . RSPOS=55242467;dbSNPBuildID=133;SSR=0;SAO=3;VP=050060000a01000002100220;WGT=1;VC=DIV;PM;NSM;REF;OTHERKG;LSD;CLNALLE=1;CLNHGVS=NC_000007.13:g.55242467_55242486delinsTC;CLNSRC=.;CLNORIGIN=2;CLNSRCID=.;CLNSIG=255;CLNDSDB=.;CLNDSDBID=.;CLNDBN=.;CLNACC=. +7 55242468 rs121913436 ATTAAGAGAA A . . RSPOS=55242469;dbSNPBuildID=133;SSR=0;SAO=0;VP=050060000001000002100200;GENEINFO=EGFR:1956;WGT=1;VC=DIV;PM;OTHERKG;LSD;CLNALLE=1;CLNHGVS=NC_000007.13:g.55242469_55242477delTTAAGAGAA;CLNSRC=.;CLNORIGIN=2;CLNSRCID=.;CLNSIG=255;CLNDSDB=.;CLNDSDBID=.;CLNDBN=.;CLNACC=. +7 55242468 rs121913440 ATTAAGAGAAGCAACATCT A . . RSPOS=55242469;dbSNPBuildID=133;SSR=0;SAO=0;VP=050060000001000002100200;GENEINFO=EGFR:1956;WGT=1;VC=DIV;PM;OTHERKG;LSD;CLNALLE=1;CLNHGVS=NC_000007.13:g.55242469_55242486del18;CLNSRC=.;CLNORIGIN=2;CLNSRCID=.;CLNSIG=255;CLNDSDB=.;CLNDSDBID=.;CLNDBN=.;CLNACC=. +7 55242468 rs121913437 ATTAAGAGAAGCAACATCTCC ACA . . RSPOS=55242469;dbSNPBuildID=133;SSR=0;SAO=3;VP=050060000a01000002100220;WGT=1;VC=DIV;PM;NSM;REF;OTHERKG;LSD;CLNALLE=1;CLNHGVS=NC_000007.13:g.55242469_55242488delinsCA;CLNSRC=.;CLNORIGIN=2;CLNSRCID=.;CLNSIG=255;CLNDSDB=.;CLNDSDBID=.;CLNDBN=.;CLNACC=. +7 55242469 rs121913441 TTAAGAGAAGCAA T . . RSPOS=55242470;dbSNPBuildID=133;SSR=0;SAO=0;VP=050060000201000002100200;GENEINFO=EGFR:1956;WGT=1;VC=DIV;PM;REF;OTHERKG;LSD;CLNALLE=1;CLNHGVS=NC_000007.13:g.55242470_55242481delTAAGAGAAGCAA;CLNSRC=.;CLNORIGIN=2;CLNSRCID=.;CLNSIG=255;CLNDSDB=.;CLNDSDBID=.;CLNDBN=.;CLNACC=. +7 55242469 rs121913442 TTAAGAGAAGCAACAT T . . RSPOS=55242470;dbSNPBuildID=133;SSR=0;SAO=0;VP=050060000201000002100200;GENEINFO=EGFR:1956;WGT=1;VC=DIV;PM;REF;OTHERKG;LSD;CLNALLE=1;CLNHGVS=NC_000007.13:g.55242470_55242484delTAAGAGAAGCAACAT;CLNSRC=.;CLNORIGIN=2;CLNSRCID=.;CLNSIG=255;CLNDSDB=.;CLNDSDBID=.;CLNDBN=.;CLNACC=. +7 55242469 rs121913438 TTAAGAGAAGCAACATCTC T . . RSPOS=55242470;dbSNPBuildID=133;SSR=0;SAO=0;VP=050060000201000002100200;GENEINFO=EGFR:1956;WGT=1;VC=DIV;PM;REF;OTHERKG;LSD;CLNALLE=1;CLNHGVS=NC_000007.13:g.55242470_55242487del18;CLNSRC=.;CLNORIGIN=2;CLNSRCID=.;CLNSIG=255;CLNDSDB=.;CLNDSDBID=.;CLNDBN=.;CLNACC=. +7 55242470 rs121913439 TAAGA TCCCG . . RSPOS=55242471;dbSNPBuildID=133;SSR=0;SAO=3;VP=050060000a01000002100820;GENEINFO=EGFR:1956;WGT=1;VC=MNV;PM;NSM;REF;OTHERKG;LSD;CLNALLE=1;CLNHGVS=NC_000007.13:g.55242471_55242474delinsCCCG;CLNSRC=.;CLNORIGIN=2;CLNSRCID=.;CLNSIG=255;CLNDSDB=.;CLNDSDBID=.;CLNDBN=.;CLNACC=. +7 55242478 rs121913229 G C . . RSPOS=55242478;dbSNPBuildID=133;SSR=0;SAO=3;VP=050060000a01000002100120;GENEINFO=EGFR:1956;WGT=1;VC=SNV;PM;NSM;REF;OTHERKG;LSD;CLNALLE=1;CLNHGVS=NC_000007.13:g.55242478G>C;CLNSRC=.;CLNORIGIN=2;CLNSRCID=.;CLNSIG=255;CLNDSDB=.;CLNDSDBID=.;CLNDBN=.;CLNACC=. +7 55242483 rs121913463 ATCTCCGAAAGCCAACAAGGAAATC A . . RSPOS=55242484;dbSNPBuildID=133;SSR=0;SAO=0;VP=050060000001000002100200;GENEINFO=EGFR:1956;WGT=1;VC=DIV;PM;OTHERKG;LSD;CLNALLE=1;CLNHGVS=NC_000007.13:g.55242484_55242507del24;CLNSRC=.;CLNORIGIN=2;CLNSRCID=.;CLNSIG=255;CLNDSDB=.;CLNDSDBID=.;CLNDBN=.;CLNACC=. +7 55242485 rs121913464 C A . . RSPOS=55242485;dbSNPBuildID=133;SSR=0;SAO=3;VP=050060000a01000002100120;GENEINFO=EGFR:1956;WGT=1;VC=SNV;PM;NSM;REF;OTHERKG;LSD;CLNALLE=1;CLNHGVS=NC_000007.13:g.55242485C>A;CLNSRC=.;CLNORIGIN=2;CLNSRCID=.;CLNSIG=255;CLNDSDB=.;CLNDSDBID=.;CLNDBN=.;CLNACC=. +7 55242487 rs121913231 C T . . RSPOS=55242487;dbSNPBuildID=133;SSR=0;SAO=3;VP=050060000a01000002100120;GENEINFO=EGFR:1956;WGT=1;VC=SNV;PM;NSM;REF;OTHERKG;LSD;CLNALLE=1;CLNHGVS=NC_000007.13:g.55242487C>T;CLNSRC=.;CLNORIGIN=2;CLNSRCID=.;CLNSIG=255;CLNDSDB=.;CLNDSDBID=.;CLNDBN=.;CLNACC=. +7 55249005 rs121913465 G T . . RSPOS=55249005;dbSNPBuildID=133;SSR=0;SAO=3;VP=050060000001000002100120;GENEINFO=EGFR:1956|LOC100507500:100507500;WGT=1;VC=SNV;PM;OTHERKG;LSD;CLNALLE=1;CLNHGVS=NC_000007.13:g.55249005G>T;CLNSRC=.;CLNORIGIN=2;CLNSRCID=.;CLNSIG=255;CLNDSDB=.;CLNDSDBID=.;CLNDBN=.;CLNACC=. +7 55249071 rs121434569 C T . . RSPOS=55249071;dbSNPBuildID=132;SSR=0;SAO=3;VP=050060000001000002110120;GENEINFO=EGFR:1956|LOC100507500:100507500;WGT=1;VC=SNV;PM;OTHERKG;LSD;OM;CLNALLE=1;CLNHGVS=NC_000007.13:g.55249071C>T;CLNSRC=OMIM Allelic Variant;CLNORIGIN=2;CLNSRCID=131550.0006;CLNSIG=5;CLNDSDB=.;CLNDSDBID=.;CLNDBN=Nonsmall cell lung cancer\x2c resistance to tyrosine kinase inhibitor in;CLNACC=RCV000018088.1 +7 55249130 rs121913230 G A . . RSPOS=55249130;dbSNPBuildID=133;SSR=0;SAO=3;VP=050060000001000002100120;GENEINFO=EGFR:1956|LOC100507500:100507500;WGT=1;VC=SNV;PM;OTHERKG;LSD;CLNALLE=1;CLNHGVS=NC_000007.13:g.55249130G>A;CLNSRC=.;CLNORIGIN=2;CLNSRCID=.;CLNSIG=255;CLNDSDB=.;CLNDSDBID=.;CLNDBN=.;CLNACC=. +7 55249131 rs121913431 G A . . RSPOS=55249131;dbSNPBuildID=133;SSR=0;SAO=3;VP=050060000001000002100120;GENEINFO=EGFR:1956|LOC100507500:100507500;WGT=1;VC=SNV;PM;OTHERKG;LSD;CLNALLE=1;CLNHGVS=NC_000007.13:g.55249131G>A;CLNSRC=.;CLNORIGIN=2;CLNSRCID=.;CLNSIG=255;CLNDSDB=.;CLNDSDBID=.;CLNDBN=.;CLNACC=. +7 55259486 rs104886012 G A,T . . RSPOS=55259486;dbSNPBuildID=132;SSR=0;SAO=3;VP=050060000301000002110120;GENEINFO=EGFR:1956;WGT=1;VC=SNV;PM;REF;SYN;OTHERKG;LSD;OM;CLNALLE=1;CLNHGVS=NC_000007.13:g.55259486G>A;CLNSRC=.;CLNORIGIN=2;CLNSRCID=.;CLNSIG=255;CLNDSDB=.;CLNDSDBID=.;CLNDBN=.;CLNACC=. +7 55259524 rs121913444 T A . . RSPOS=55259524;dbSNPBuildID=133;SSR=0;SAO=3;VP=050060000a01000002100120;GENEINFO=EGFR:1956;WGT=1;VC=SNV;PM;NSM;REF;OTHERKG;LSD;CLNALLE=1;CLNHGVS=NC_000007.13:g.55259524T>A;CLNSRC=.;CLNORIGIN=2;CLNSRCID=.;CLNSIG=255;CLNDSDB=.;CLNDSDBID=.;CLNDBN=.;CLNACC=. +7 55259544 rs104886013 G A . . RSPOS=55259544;dbSNPBuildID=132;SSR=0;SAO=3;VP=050060000a01000002110120;GENEINFO=EGFR:1956;WGT=1;VC=SNV;PM;NSM;REF;OTHERKG;LSD;OM;CLNALLE=1;CLNHGVS=NC_000007.13:g.55259544G>A;CLNSRC=.;CLNORIGIN=2;CLNSRCID=.;CLNSIG=255;CLNDSDB=.;CLNDSDBID=.;CLNDBN=.;CLNACC=. +7 55259575 rs104886014 G A . . RSPOS=55259575;dbSNPBuildID=132;SSR=0;SAO=3;VP=050060080001000002110120;GENEINFO=EGFR:1956;WGT=1;VC=SNV;PM;INT;OTHERKG;LSD;OM;CLNALLE=1;CLNHGVS=NC_000007.13:g.55259575G>A;CLNSRC=.;CLNORIGIN=2;CLNSRCID=.;CLNSIG=255;CLNDSDB=.;CLNDSDBID=.;CLNDBN=.;CLNACC=. +7 116411990 rs56391007 C T . . RSPOS=116411990;GMAF=0.0055;dbSNPBuildID=129;SSR=0;SAO=3;VP=050068000a01040016100120;GENEINFO=MET:4233;WGT=1;VC=SNV;PM;PMC;NSM;REF;VLD;KGPhase1;KGPROD;OTHERKG;LSD;CLNALLE=1;CLNHGVS=NC_000007.13:g.116411990C>T;CLNSRC=.;CLNORIGIN=2;CLNSRCID=.;CLNSIG=255;CLNDSDB=.;CLNDSDBID=.;CLNDBN=.;CLNACC=. +7 116417463 rs121913244 C T . . RSPOS=116417463;dbSNPBuildID=133;SSR=0;SAO=3;VP=050060000a01000002100120;GENEINFO=MET:4233;WGT=1;VC=SNV;PM;NSM;REF;OTHERKG;LSD;CLNALLE=1;CLNHGVS=NC_000007.13:g.116417463C>T;CLNSRC=.;CLNORIGIN=2;CLNSRCID=.;CLNSIG=255;CLNDSDB=.;CLNDSDBID=.;CLNDBN=.;CLNACC=. +7 116417464 rs121913243 A G . . RSPOS=116417464;dbSNPBuildID=133;SSR=0;SAO=3;VP=050060000a01000002110120;GENEINFO=MET:4233;WGT=1;VC=SNV;PM;NSM;REF;OTHERKG;LSD;OM;CLNALLE=1;CLNHGVS=NC_000007.13:g.116417464A>G;CLNSRC=OMIM Allelic Variant;CLNORIGIN=1;CLNSRCID=164860.0007;CLNSIG=5;CLNDSDB=NCBI:OMIM:Orphanet:SNOMED CT;CLNDSDBID=C0007134:605074:47044:41607009;CLNDBN=Renal cell carcinoma\x2c papillary\x2c 1;CLNACC=RCV000014901.1 +7 116423407 rs121913671 G A . . RSPOS=116423407;dbSNPBuildID=133;SSR=0;SAO=1;VP=050060000a01000002110100;GENEINFO=MET:4233;WGT=1;VC=SNV;PM;NSM;REF;OTHERKG;LSD;OM;CLNALLE=1;CLNHGVS=NC_000007.13:g.116423407G>A;CLNSRC=OMIM Allelic Variant;CLNORIGIN=1;CLNSRCID=164860.0004;CLNSIG=5;CLNDSDB=NCBI:OMIM:Orphanet:SNOMED CT;CLNDSDBID=C0007134:605074:47044:41607009;CLNDBN=Renal cell carcinoma\x2c papillary\x2c 1;CLNACC=RCV000014898.1 +7 116423413 rs121913247 T C . . RSPOS=116423413;dbSNPBuildID=133;SSR=0;SAO=3;VP=050060000a01000002100120;GENEINFO=MET:4233;WGT=1;VC=SNV;PM;NSM;REF;OTHERKG;LSD;CLNALLE=1;CLNHGVS=NC_000007.13:g.116423413T>C;CLNSRC=.;CLNORIGIN=2;CLNSRCID=.;CLNSIG=255;CLNDSDB=.;CLNDSDBID=.;CLNDBN=.;CLNACC=. +7 116423414 rs121913246 A G . . RSPOS=116423414;dbSNPBuildID=133;SSR=0;SAO=3;VP=050060000a01000002110120;GENEINFO=MET:4233;WGT=1;VC=SNV;PM;NSM;REF;OTHERKG;LSD;OM;CLNALLE=1;CLNHGVS=NC_000007.13:g.116423414A>G;CLNSRC=OMIM Allelic Variant;CLNORIGIN=2;CLNSRCID=164860.0005;CLNSIG=5;CLNDSDB=NCBI:OMIM:Orphanet:SNOMED CT;CLNDSDBID=C0007134:605074:47044:41607009;CLNDBN=Renal cell carcinoma\x2c papillary\x2c 1;CLNACC=RCV000014899.1 +7 116423456 rs121913677 A G . . RSPOS=116423456;dbSNPBuildID=133;SSR=0;SAO=1;VP=050060000a01000002110100;GENEINFO=MET:4233;WGT=1;VC=SNV;PM;NSM;REF;OTHERKG;LSD;OM;CLNALLE=1;CLNHGVS=NC_000007.13:g.116423456A>G;CLNSRC=OMIM Allelic Variant;CLNORIGIN=1;CLNSRCID=164860.0010;CLNSIG=255;CLNDSDB=.;CLNDSDBID=.;CLNDBN=Hepatocellular carcinoma\x2c childhood type\x2c somatic;CLNACC=RCV000014904.1 +7 116423474 rs121913245 T C . . RSPOS=116423474;dbSNPBuildID=133;SSR=0;SAO=3;VP=050060000a01000002100120;GENEINFO=MET:4233;WGT=1;VC=SNV;PM;NSM;REF;OTHERKG;LSD;CLNALLE=1;CLNHGVS=NC_000007.13:g.116423474T>C;CLNSRC=.;CLNORIGIN=2;CLNSRCID=.;CLNSIG=255;CLNDSDB=.;CLNDSDBID=.;CLNDBN=.;CLNACC=. +7 116423475 rs121913676 G A . . RSPOS=116423475;dbSNPBuildID=133;SSR=0;SAO=1;VP=050060000a01000002110100;GENEINFO=MET:4233;WGT=1;VC=SNV;PM;NSM;REF;OTHERKG;LSD;OM;CLNALLE=1;CLNHGVS=NC_000007.13:g.116423475G>A;CLNSRC=OMIM Allelic Variant;CLNORIGIN=1;CLNSRCID=164860.0009;CLNSIG=255;CLNDSDB=.;CLNDSDBID=.;CLNDBN=Hepatocellular carcinoma\x2c childhood type\x2c somatic;CLNACC=RCV000014903.1 +7 128850341 rs121918347 G T . . RSPOS=128850341;dbSNPBuildID=133;SSR=0;SAO=1;VP=050060000a01000002110100;GENEINFO=SMO:6608;WGT=1;VC=SNV;PM;NSM;REF;OTHERKG;LSD;OM;CLNALLE=1;CLNHGVS=NC_000007.13:g.128850341G>T;CLNSRC=OMIM Allelic Variant;CLNORIGIN=1;CLNSRCID=601500.0001;CLNSIG=5;CLNDSDB=.;CLNDSDBID=.;CLNDBN=Basal cell carcinoma\x2c sporadic;CLNACC=RCV000008586.1 +7 140453120 rs121913372 ACT AAA . . RSPOS=140453121;RV;dbSNPBuildID=133;SSR=0;SAO=3;VP=050260000a01000002100820;GENEINFO=BRAF:673;WGT=1;VC=MNV;PM;S3D;NSM;REF;OTHERKG;LSD;CLNALLE=1;CLNHGVS=NC_000007.13:g.140453121_140453122delinsAA;CLNSRC=.;CLNORIGIN=2;CLNSRCID=.;CLNSIG=255;CLNDSDB=.;CLNDSDBID=.;CLNDBN=.;CLNACC=. +7 140453121 rs121913373 C T . . RSPOS=140453121;RV;dbSNPBuildID=133;SSR=0;SAO=3;VP=050260000a01000002100120;GENEINFO=BRAF:673;WGT=1;VC=SNV;PM;S3D;NSM;REF;OTHERKG;LSD;CLNALLE=1;CLNHGVS=NC_000007.13:g.140453121C>T;CLNSRC=.;CLNORIGIN=2;CLNSRCID=.;CLNSIG=255;CLNDSDB=.;CLNDSDBID=.;CLNDBN=.;CLNACC=. +7 140453128 rs104886015 G A . . RSPOS=140453128;RV;dbSNPBuildID=132;SSR=0;SAO=3;VP=050260000601000002110120;GENEINFO=BRAF:673;WGT=1;VC=SNV;PM;S3D;NSN;REF;OTHERKG;LSD;OM;CLNALLE=1;CLNHGVS=NC_000007.13:g.140453128G>A;CLNSRC=.;CLNORIGIN=2;CLNSRCID=.;CLNSIG=255;CLNDSDB=.;CLNDSDBID=.;CLNDBN=.;CLNACC=. +7 140453131 rs121913226 ATTT A . . RSPOS=140453132;RV;dbSNPBuildID=133;SSR=0;SAO=0;VP=050060000001000002100200;GENEINFO=BRAF:673;WGT=1;VC=DIV;PM;OTHERKG;LSD;CLNALLE=1;CLNHGVS=NC_000007.13:g.140453132_140453134delTTT;CLNSRC=.;CLNORIGIN=2;CLNSRCID=.;CLNSIG=255;CLNDSDB=.;CLNDSDBID=.;CLNDBN=.;CLNACC=. +7 140453132 rs121913365 T G . . RSPOS=140453132;RV;dbSNPBuildID=133;SSR=0;SAO=3;VP=050260000a01000002100120;GENEINFO=BRAF:673;WGT=1;VC=SNV;PM;S3D;NSM;REF;OTHERKG;LSD;CLNALLE=1;CLNHGVS=NC_000007.13:g.140453132T>G;CLNSRC=.;CLNORIGIN=2;CLNSRCID=.;CLNSIG=255;CLNDSDB=.;CLNDSDBID=.;CLNDBN=.;CLNACC=. +7 140453134 rs121913364 T C . . RSPOS=140453134;RV;dbSNPBuildID=133;SSR=0;SAO=3;VP=050260000a01000002110120;GENEINFO=BRAF:673;WGT=1;VC=SNV;PM;S3D;NSM;REF;OTHERKG;LSD;OM;CLNALLE=1;CLNHGVS=NC_000007.13:g.140453134T>C;CLNSRC=OMIM Allelic Variant;CLNORIGIN=2;CLNSRCID=164757.0005;CLNSIG=255|255;CLNDSDB=.|.;CLNDSDBID=.|.;CLNDBN=Colorectal cancer\x2c somatic|Thyroid carcinoma\x2c follicular\x2c somatic;CLNACC=RCV000014999.1|RCV000015000.1 +7 140453134 rs121913377 TCA TAT . . RSPOS=140453135;RV;dbSNPBuildID=133;SSR=0;SAO=3;VP=050260000a01000002100820;GENEINFO=BRAF:673;WGT=1;VC=MNV;PM;S3D;NSM;REF;OTHERKG;LSD;CLNALLE=1;CLNHGVS=NC_000007.13:g.140453135_140453136delinsAT;CLNSRC=.;CLNORIGIN=2;CLNSRCID=.;CLNSIG=255;CLNDSDB=.;CLNDSDBID=.;CLNDBN=.;CLNACC=. +7 140453135 rs121913227 CAC CCT,CTT . . RSPOS=140453136;RV;dbSNPBuildID=133;SSR=0;SAO=3;VP=050260000a01000002100820;GENEINFO=BRAF:673;WGT=1;VC=MNV;PM;S3D;NSM;REF;OTHERKG;LSD;CLNALLE=1,2;CLNHGVS=NC_000007.13:g.140453136_140453137delACinsCT,NC_000007.13:g.140453136_140453137delACinsTT;CLNSRC=.,.;CLNORIGIN=2,2;CLNSRCID=.,.;CLNSIG=255,255;CLNDSDB=.,.;CLNDSDBID=.,.;CLNDBN=.,.;CLNACC=.,. +7 140453136 rs113488022 A G,T . . RSPOS=140453136;RV;dbSNPBuildID=132;SSR=0;SAO=3;VP=050268000a01000002110120;GENEINFO=BRAF:673;WGT=1;VC=SNV;PM;PMC;S3D;NSM;REF;OTHERKG;LSD;OM;CLNALLE=1,2;CLNHGVS=NC_000007.13:g.140453136A>G,NC_000007.13:g.140453136A>T;CLNSRC=.,OMIM Allelic Variant;CLNORIGIN=2,1;CLNSRCID=.,164757.0001;CLNSIG=255,255|255|255|255|255;CLNDSDB=.,.|.|.|.|.;CLNDSDBID=.,.|.|.|.|.;CLNDBN=.,Melanoma\x2c malignant\x2c somatic|Colorectal cancer\x2c somatic|Thyroid carcinoma\x2c papillary\x2c somatic|Astrocytoma\x2c low-grade\x2c somatic|NONSEMINOMATOUS GERM CELL TUMORS\x2c SOMATIC;CLNACC=.,RCV000014991.1|RCV000014992.1|RCV000014993.1|RCV000014994.1|RCV000022677.1 +7 140453137 rs121913378 C A,T . . RSPOS=140453137;RV;dbSNPBuildID=133;SSR=0;SAO=3;VP=050260000a01000002100120;GENEINFO=BRAF:673;WGT=1;VC=SNV;PM;S3D;NSM;REF;OTHERKG;LSD;CLNALLE=1,2;CLNHGVS=NC_000007.13:g.140453137C>A,NC_000007.13:g.140453137C>T;CLNSRC=.,.;CLNORIGIN=2,2;CLNSRCID=.,.;CLNSIG=255,255;CLNDSDB=.,.;CLNDSDBID=.,.;CLNDBN=.,.;CLNACC=.,. +7 140453137 rs121913374 CT CCGTAGTA . . RSPOS=140453138;RV;dbSNPBuildID=133;SSR=0;SAO=3;VP=050260000301000002100220;WGT=1;VC=DIV;PM;S3D;REF;SYN;OTHERKG;LSD;CLNALLE=1;CLNHGVS=NC_000007.13:g.140453138delinsCGTAGTA;CLNSRC=.;CLNORIGIN=2;CLNSRCID=.;CLNSIG=255;CLNDSDB=.;CLNDSDBID=.;CLNDBN=.;CLNACC=. +7 140453139 rs121913375 G A . . RSPOS=140453139;RV;dbSNPBuildID=133;SSR=0;SAO=3;VP=050260000a01000002100120;GENEINFO=BRAF:673;WGT=1;VC=SNV;PM;S3D;NSM;REF;OTHERKG;LSD;CLNALLE=1;CLNHGVS=NC_000007.13:g.140453139G>A;CLNSRC=.;CLNORIGIN=2;CLNSRCID=.;CLNSIG=255;CLNDSDB=.;CLNDSDBID=.;CLNDBN=.;CLNACC=. +7 140453144 rs121913368 TAG TGA . . RSPOS=140453145;RV;dbSNPBuildID=133;SSR=0;SAO=3;VP=050260000a01000002100820;GENEINFO=BRAF:673;WGT=1;VC=MNV;PM;S3D;NSM;REF;OTHERKG;LSD;CLNALLE=1;CLNHGVS=NC_000007.13:g.140453145_140453146delAGinsGA;CLNSRC=.;CLNORIGIN=2;CLNSRCID=.;CLNSIG=255;CLNDSDB=.;CLNDSDBID=.;CLNDBN=.;CLNACC=. +7 140453146 rs121913369 G C . . RSPOS=140453146;RV;dbSNPBuildID=133;SSR=0;SAO=3;VP=050260000a01000002110120;GENEINFO=BRAF:673;WGT=1;VC=SNV;PM;S3D;NSM;REF;OTHERKG;LSD;OM;CLNALLE=1;CLNHGVS=NC_000007.13:g.140453146G>C;CLNSRC=OMIM Allelic Variant|OMIM Allelic Variant;CLNORIGIN=2;CLNSRCID=164757.0008|164757.0026;CLNSIG=255|5;CLNDSDB=.|GeneReviews:NCBI:OMIM:Orphanet;CLNDSDBID=.|NBK1124:C3150970:613706:648;CLNDBN=Nonsmall cell lung cancer\x2c somatic|Noonan syndrome 7;CLNACC=RCV000015003.1|RCV000030948.1 +7 140453149 rs121913361 C G . . RSPOS=140453149;RV;dbSNPBuildID=133;SSR=0;SAO=3;VP=050260000a01000002100120;GENEINFO=BRAF:673;WGT=1;VC=SNV;PM;S3D;NSM;REF;OTHERKG;LSD;CLNALLE=1;CLNHGVS=NC_000007.13:g.140453149C>G;CLNSRC=.;CLNORIGIN=2;CLNSRCID=.;CLNSIG=255;CLNDSDB=.;CLNDSDBID=.;CLNDBN=.;CLNACC=. +7 140453150 rs121913341 A C . . RSPOS=140453150;RV;dbSNPBuildID=133;SSR=0;SAO=3;VP=050260000a01000002100120;GENEINFO=BRAF:673;WGT=1;VC=SNV;PM;S3D;NSM;REF;OTHERKG;LSD;CLNALLE=1;CLNHGVS=NC_000007.13:g.140453150A>C;CLNSRC=.;CLNORIGIN=2;CLNSRCID=.;CLNSIG=255;CLNDSDB=.;CLNDSDBID=.;CLNDBN=.;CLNACC=. +7 140453151 rs121913225 A G . . RSPOS=140453151;RV;dbSNPBuildID=133;SSR=0;SAO=3;VP=050260000a01000002100120;GENEINFO=BRAF:673;WGT=1;VC=SNV;PM;S3D;NSM;REF;OTHERKG;LSD;CLNALLE=1;CLNHGVS=NC_000007.13:g.140453151A>G;CLNSRC=.;CLNORIGIN=2;CLNSRCID=.;CLNSIG=255;CLNDSDB=.;CLNDSDBID=.;CLNDBN=.;CLNACC=. +7 140453153 rs121913337 A T . . RSPOS=140453153;RV;dbSNPBuildID=133;SSR=0;SAO=3;VP=050260000a01000002100120;GENEINFO=BRAF:673;WGT=1;VC=SNV;PM;S3D;NSM;REF;OTHERKG;LSD;CLNALLE=1;CLNHGVS=NC_000007.13:g.140453153A>T;CLNSRC=.;CLNORIGIN=2;CLNSRCID=.;CLNSIG=255;CLNDSDB=.;CLNDSDBID=.;CLNDBN=.;CLNACC=. +7 140453154 rs121913338 T A,C . . RSPOS=140453154;RV;dbSNPBuildID=133;SSR=0;SAO=3;VP=050260000a01000002110120;GENEINFO=BRAF:673;WGT=1;VC=SNV;PM;S3D;NSM;REF;OTHERKG;LSD;OM;CLNALLE=1,2;CLNHGVS=NC_000007.13:g.140453154T>A,NC_000007.13:g.140453154T>C;CLNSRC=.,OMIM Allelic Variant;CLNORIGIN=2,1;CLNSRCID=.,164757.0011;CLNSIG=255,255;CLNDSDB=.,SNOMED CT;CLNDSDBID=.,118601006;CLNDBN=.,Non-Hodgkin's lymphoma;CLNACC=.,RCV000015006.1 +7 140453159 rs121913362 T C . . RSPOS=140453159;RV;dbSNPBuildID=133;SSR=0;SAO=3;VP=050260000a01000002100120;GENEINFO=BRAF:673;WGT=1;VC=SNV;PM;S3D;NSM;REF;OTHERKG;LSD;CLNALLE=1;CLNHGVS=NC_000007.13:g.140453159T>C;CLNSRC=.;CLNORIGIN=2;CLNSRCID=.;CLNSIG=255;CLNDSDB=.;CLNDSDBID=.;CLNDBN=.;CLNACC=. +7 140453161 rs121913363 T C . . RSPOS=140453161;RV;dbSNPBuildID=133;SSR=0;SAO=3;VP=050260000a01000002100120;GENEINFO=BRAF:673;WGT=1;VC=SNV;PM;S3D;NSM;REF;OTHERKG;LSD;CLNALLE=1;CLNHGVS=NC_000007.13:g.140453161T>C;CLNSRC=.;CLNORIGIN=2;CLNSRCID=.;CLNSIG=255;CLNDSDB=.;CLNDSDBID=.;CLNDBN=.;CLNACC=. +7 140453174 rs121913336 G T . . RSPOS=140453174;RV;dbSNPBuildID=133;SSR=0;SAO=3;VP=050260000a01000002100120;GENEINFO=BRAF:673;WGT=1;VC=SNV;PM;S3D;NSM;REF;OTHERKG;LSD;CLNALLE=1;CLNHGVS=NC_000007.13:g.140453174G>T;CLNSRC=.;CLNORIGIN=2;CLNSRCID=.;CLNSIG=255;CLNDSDB=.;CLNDSDBID=.;CLNDBN=.;CLNACC=. +7 140453175 rs121913335 T G . . RSPOS=140453175;RV;dbSNPBuildID=133;SSR=0;SAO=3;VP=050260000a01000002100120;GENEINFO=BRAF:673;WGT=1;VC=SNV;PM;S3D;NSM;REF;OTHERKG;LSD;CLNALLE=1;CLNHGVS=NC_000007.13:g.140453175T>G;CLNSRC=.;CLNORIGIN=2;CLNSRCID=.;CLNSIG=255;CLNDSDB=.;CLNDSDBID=.;CLNDBN=.;CLNACC=. +7 140453179 rs121913340 C T . . RSPOS=140453179;RV;dbSNPBuildID=133;SSR=0;SAO=3;VP=050260000a01000002100120;GENEINFO=BRAF:673;WGT=1;VC=SNV;PM;S3D;NSM;REF;OTHERKG;LSD;CLNALLE=1;CLNHGVS=NC_000007.13:g.140453179C>T;CLNSRC=.;CLNORIGIN=2;CLNSRCID=.;CLNSIG=255;CLNDSDB=.;CLNDSDBID=.;CLNDBN=.;CLNACC=. +7 140453193 rs121913370 T C . . RSPOS=140453193;RV;dbSNPBuildID=133;SSR=0;SAO=3;VP=050260000a01000002100120;GENEINFO=BRAF:673;WGT=1;VC=SNV;PM;S3D;NSM;REF;OTHERKG;LSD;CLNALLE=1;CLNHGVS=NC_000007.13:g.140453193T>C;CLNSRC=.;CLNORIGIN=2;CLNSRCID=.;CLNSIG=255;CLNDSDB=.;CLNDSDBID=.;CLNDBN=.;CLNACC=. +7 140481397 rs121913376 C A . . RSPOS=140481397;RV;dbSNPBuildID=133;SSR=0;SAO=3;VP=050260000a01000002100120;GENEINFO=BRAF:673;WGT=1;VC=SNV;PM;S3D;NSM;REF;OTHERKG;LSD;CLNALLE=1;CLNHGVS=NC_000007.13:g.140481397C>A;CLNSRC=.;CLNORIGIN=2;CLNSRCID=.;CLNSIG=255;CLNDSDB=.;CLNDSDBID=.;CLNDBN=.;CLNACC=. +7 140481400 rs121913358 TTCC TACT,TGCT . . RSPOS=140481401;RV;dbSNPBuildID=133;SSR=0;SAO=3;VP=050060000201000002100820;GENEINFO=BRAF:673;WGT=1;VC=MNV;PM;REF;OTHERKG;LSD;CLNALLE=1,2;CLNHGVS=NC_000007.13:g.140481401_140481403delinsACT,NC_000007.13:g.140481401_140481403delinsGCT;CLNSRC=.,.;CLNORIGIN=2,2;CLNSRCID=.,.;CLNSIG=255,255;CLNDSDB=.,.;CLNDSDBID=.,.;CLNDBN=.,.;CLNACC=.,. +7 140481402 rs121913355 C A,G,T . . RSPOS=140481402;RV;dbSNPBuildID=133;SSR=0;SAO=3;VP=050260000a01000002110124;GENEINFO=BRAF:673;WGT=1;VC=SNV;PM;S3D;NSM;REF;OTHERKG;LSD;OM;NOV;CLNALLE=1,2,3;CLNHGVS=NC_000007.13:g.140481402C>A,NC_000007.13:g.140481402C>G,NC_000007.13:g.140481402C>T;CLNSRC=.,OMIM Allelic Variant,OMIM Allelic Variant;CLNORIGIN=2,1,2;CLNSRCID=.,164757.0010,164757.0014;CLNSIG=255,255,5;CLNDSDB=.,SNOMED CT,GeneReviews:NCBI:OMIM:Orphanet:SNOMED CT;CLNDSDBID=.,118601006,NBK1186:C1275081:115150:1340:403770008;CLNDBN=.,Non-Hodgkin's lymphoma,Cardio-facio-cutaneous syndrome;CLNACC=.,RCV000015005.1,RCV000015008.1 +7 140481403 rs121913357 C G,T . . RSPOS=140481403;RV;dbSNPBuildID=133;SSR=0;SAO=3;VP=050260000a01000002110120;GENEINFO=BRAF:673;WGT=1;VC=SNV;PM;S3D;NSM;REF;OTHERKG;LSD;OM;CLNALLE=1,2;CLNHGVS=NC_000007.13:g.140481403C>G,NC_000007.13:g.140481403C>T;CLNSRC=OMIM Allelic Variant,.;CLNORIGIN=1,2;CLNSRCID=164757.0009,.;CLNSIG=255,255;CLNDSDB=SNOMED CT,.;CLNDSDBID=118601006,.;CLNDBN=Non-Hodgkin's lymphoma,.;CLNACC=RCV000015004.1,. +7 140481411 rs121913351 C A,G,T . . RSPOS=140481411;RV;dbSNPBuildID=133;SSR=0;SAO=3;VP=050260000a01000002110124;GENEINFO=BRAF:673;WGT=1;VC=SNV;PM;S3D;NSM;REF;OTHERKG;LSD;OM;NOV;CLNALLE=1,2,3;CLNHGVS=NC_000007.13:g.140481411C>A,NC_000007.13:g.140481411C>G,NC_000007.13:g.140481411C>T;CLNSRC=OMIM Allelic Variant,.,.;CLNORIGIN=2,2,2;CLNSRCID=164757.0006,.,.;CLNSIG=255,255,255;CLNDSDB=.,.,.;CLNDSDBID=.,.,.;CLNDBN=Adenocarcinoma of lung\x2c somatic,.,.;CLNACC=RCV000015001.1,.,. +7 140481412 rs121913353 C G . . RSPOS=140481412;RV;dbSNPBuildID=133;SSR=0;SAO=3;VP=050260000a01000002100120;GENEINFO=BRAF:673;WGT=1;VC=SNV;PM;S3D;NSM;REF;OTHERKG;LSD;CLNALLE=1;CLNHGVS=NC_000007.13:g.140481412C>G;CLNSRC=.;CLNORIGIN=2;CLNSRCID=.;CLNSIG=255;CLNDSDB=.;CLNDSDBID=.;CLNDBN=.;CLNACC=. +7 140481417 rs121913348 C A,T . . RSPOS=140481417;RV;dbSNPBuildID=133;SSR=0;SAO=3;VP=050260000a01000002110120;GENEINFO=BRAF:673;WGT=1;VC=SNV;PM;S3D;NSM;REF;OTHERKG;LSD;OM;CLNALLE=1,2;CLNHGVS=NC_000007.13:g.140481417C>A,NC_000007.13:g.140481417C>T;CLNSRC=.,OMIM Allelic Variant;CLNORIGIN=2,2;CLNSRCID=.,164757.0004;CLNSIG=255,255;CLNDSDB=.,.;CLNDSDBID=.,.;CLNDBN=.,Colorectal cancer\x2c somatic;CLNACC=.,RCV000014997.1 +7 140481418 rs121913349 C G . . RSPOS=140481418;RV;dbSNPBuildID=133;SSR=0;SAO=3;VP=050260000a01000002100120;GENEINFO=BRAF:673;WGT=1;VC=SNV;PM;S3D;NSM;REF;OTHERKG;LSD;CLNALLE=1;CLNHGVS=NC_000007.13:g.140481418C>G;CLNSRC=.;CLNORIGIN=2;CLNSRCID=.;CLNSIG=255;CLNDSDB=.;CLNDSDBID=.;CLNDBN=.;CLNACC=. +7 140481420 rs180177033 A C . . RSPOS=140481420;RV;dbSNPBuildID=135;SSR=0;SAO=1;VP=050260000a01000002110100;GENEINFO=BRAF:673;WGT=1;VC=SNV;PM;S3D;NSM;REF;OTHERKG;LSD;OM;CLNALLE=1;CLNHGVS=NC_000007.13:g.140481420A>C;CLNSRC=OMIM Allelic Variant;CLNORIGIN=1;CLNSRCID=164757.0003;CLNSIG=255;CLNDSDB=.;CLNDSDBID=.;CLNDBN=Colorectal cancer\x2c somatic;CLNACC=RCV000014996.1 +7 140481423 rs180177032 C A . . RSPOS=140481423;RV;dbSNPBuildID=135;SSR=0;SAO=1;VP=050260000a01000002110100;GENEINFO=BRAF:673;WGT=1;VC=SNV;PM;S3D;NSM;REF;OTHERKG;LSD;OM;CLNALLE=1;CLNHGVS=NC_000007.13:g.140481423C>A;CLNSRC=OMIM Allelic Variant;CLNORIGIN=1;CLNSRCID=164757.0002;CLNSIG=255;CLNDSDB=.;CLNDSDBID=.;CLNDBN=Colon cancer\x2c somatic;CLNACC=RCV000014995.1 +7 140481478 rs121913371 G A . . RSPOS=140481478;RV;dbSNPBuildID=133;SSR=0;SAO=3;VP=050260000a01000002100120;GENEINFO=BRAF:673;WGT=1;VC=SNV;PM;S3D;NSM;REF;OTHERKG;LSD;CLNALLE=1;CLNHGVS=NC_000007.13:g.140481478G>A;CLNSRC=.;CLNORIGIN=2;CLNSRCID=.;CLNSIG=255;CLNDSDB=.;CLNDSDBID=.;CLNDBN=.;CLNACC=. +8 38282208 rs121909627 G C . . RSPOS=38282208;RV;dbSNPBuildID=133;SSR=0;SAO=1;VP=050060000a01000002110100;GENEINFO=FGFR1:2260;WGT=1;VC=SNV;PM;NSM;REF;OTHERKG;LSD;OM;CLNALLE=1;CLNHGVS=NC_000008.10:g.38282208G>C;CLNSRC=OMIM Allelic Variant;CLNORIGIN=1;CLNSRCID=136350.0001;CLNSIG=5|5;CLNDSDB=GeneReviews:NCBI:OMIM:OMIM:Orphanet|GeneReviews:NCBI:OMIM:Orphanet;CLNDSDBID=NBK1455:C1863356:101600:C1863356:710|NBK1455:C0795998:123150:1540;CLNDBN=Pfeiffer syndrome|Jackson-Weiss syndrome;CLNACC=RCV000017669.1|RCV000017670.1 +8 38282214 rs121909645 C T . . RSPOS=38282214;RV;dbSNPBuildID=133;SSR=0;SAO=1;VP=050060000a01000002110100;GENEINFO=FGFR1:2260;WGT=1;VC=SNV;PM;NSM;REF;OTHERKG;LSD;OM;CLNALLE=1;CLNHGVS=NC_000008.10:g.38282214C>T;CLNSRC=OMIM Allelic Variant;CLNORIGIN=1;CLNSRCID=136350.0025;CLNSIG=5;CLNDSDB=GeneReviews:NCBI:OMIM:Orphanet;CLNDSDBID=NBK1334:C1563720:147950:478;CLNDBN=Kallmann syndrome 2;CLNACC=RCV000030940.1 +9 5073742 rs121912472 G C . . RSPOS=5073742;dbSNPBuildID=133;SSR=0;SAO=1;VP=050260000a01000002110100;GENEINFO=JAK2:3717;WGT=1;VC=SNV;PM;S3D;NSM;REF;OTHERKG;LSD;OM;CLNALLE=1;CLNHGVS=NC_000009.11:g.5073742G>C;CLNSRC=OMIM Allelic Variant;CLNORIGIN=1;CLNSRCID=147796.0002;CLNSIG=255;CLNDSDB=.;CLNDSDBID=.;CLNDBN=Leukemia\x2c acute myelogenous\x2c somatic;CLNACC=RCV000015773.1 +9 5073770 rs77375493 G T . . RSPOS=5073770;GMAF=0;dbSNPBuildID=131;SSR=0;SAO=3;VP=050260000a01000416110120;GENEINFO=JAK2:3717;WGT=1;VC=SNV;PM;S3D;NSM;REF;HD;KGPhase1;KGPROD;OTHERKG;LSD;OM;CLNALLE=1;CLNHGVS=NC_000009.11:g.5073770G>T;CLNSRC=OMIM Allelic Variant;CLNORIGIN=1;CLNSRCID=147796.0001;CLNSIG=255|255|255|255|255|255;CLNDSDB=.|.|.|.|.|.;CLNDSDBID=.|.|.|.|.|.;CLNDBN=Polycythemia vera\x2c somatic|Myelofibrosis\x2c somatic|Leukemia\x2c acute myelogenous\x2c somatic|Budd-Chiari syndrome\x2c susceptibility to\x2c somatic|THROMBOCYTHEMIA 3\x2c SOMATIC|ERYTHROCYTOSIS\x2c SOMATIC;CLNACC=RCV000015769.1|RCV000015770.1|RCV000015771.1|RCV000015772.1|RCV000022627.1|RCV000022628.1 +9 21971153 rs121913383 C A . . RSPOS=21971153;RV;dbSNPBuildID=133;SSR=0;SAO=3;VP=050260800e01000002100120;GENEINFO=CDKN2A:1029;WGT=1;VC=SNV;PM;S3D;NSM;NSN;REF;U3;OTHERKG;LSD;CLNALLE=1;CLNHGVS=NC_000009.11:g.21971153C>A;CLNSRC=.;CLNORIGIN=2;CLNSRCID=.;CLNSIG=255;CLNDSDB=.;CLNDSDBID=.;CLNDBN=.;CLNACC=. +9 21971177 rs121913382 C A . . RSPOS=21971177;RV;dbSNPBuildID=133;SSR=0;SAO=3;VP=050260800e01000002100120;GENEINFO=CDKN2A:1029;WGT=1;VC=SNV;PM;S3D;NSM;NSN;REF;U3;OTHERKG;LSD;CLNALLE=1;CLNHGVS=NC_000009.11:g.21971177C>A;CLNSRC=.;CLNORIGIN=2;CLNSRCID=.;CLNSIG=255;CLNDSDB=.;CLNDSDBID=.;CLNDBN=.;CLNACC=. +9 21971186 rs121913387 G A . . RSPOS=21971186;RV;dbSNPBuildID=133;SSR=0;SAO=3;VP=050260800e01000002100120;GENEINFO=CDKN2A:1029;WGT=1;VC=SNV;PM;S3D;NSM;NSN;REF;U3;OTHERKG;LSD;CLNALLE=1;CLNHGVS=NC_000009.11:g.21971186G>A;CLNSRC=.;CLNORIGIN=2;CLNSRCID=.;CLNSIG=255;CLNDSDB=.;CLNDSDBID=.;CLNDBN=.;CLNACC=. +9 21971188 rs140844717 G GC . . RSPOS=21971189;dbSNPBuildID=134;SSR=0;SAO=3;VP=050068801201000002100220;GENEINFO=CDKN2A:1029;WGT=1;VC=DIV;PM;PMC;NSF;REF;U3;OTHERKG;LSD;CLNALLE=-1;CLNHGVS=NC_000009.11:g.21971189dupC;CLNSRC=.;CLNORIGIN=2;CLNSRCID=.;CLNSIG=255;CLNDSDB=.;CLNDSDBID=.;CLNDBN=.;CLNACC=. +9 80409488 rs121913492 T A,G . . RSPOS=80409488;RV;dbSNPBuildID=133;SSR=0;SAO=3;VP=050260000a01000002100120;GENEINFO=GNAQ:2776;WGT=1;VC=SNV;PM;S3D;NSM;REF;OTHERKG;LSD;CLNALLE=1,2;CLNHGVS=NC_000009.11:g.80409488T>A,NC_000009.11:g.80409488T>G;CLNSRC=.,.;CLNORIGIN=2,2;CLNSRCID=.,.;CLNSIG=255,255;CLNDSDB=.,.;CLNDSDBID=.,.;CLNDBN=.,.;CLNACC=.,. +9 133738330 rs121913456 A G . . RSPOS=133738330;dbSNPBuildID=133;SSR=0;SAO=3;VP=050260000a01000002100120;GENEINFO=ABL1:25;WGT=1;VC=SNV;PM;S3D;NSM;REF;OTHERKG;LSD;CLNALLE=1;CLNHGVS=NC_000009.11:g.133738330A>G;CLNSRC=.;CLNORIGIN=2;CLNSRCID=.;CLNSIG=255;CLNDSDB=.;CLNDSDBID=.;CLNDBN=.;CLNACC=. +9 133738342 rs121913455 C G . . RSPOS=133738342;dbSNPBuildID=133;SSR=0;SAO=3;VP=050260000a01000002100120;GENEINFO=ABL1:25;WGT=1;VC=SNV;PM;S3D;NSM;REF;OTHERKG;LSD;CLNALLE=1;CLNHGVS=NC_000009.11:g.133738342C>G;CLNSRC=.;CLNORIGIN=2;CLNSRCID=.;CLNSIG=255;CLNDSDB=.;CLNDSDBID=.;CLNDBN=.;CLNACC=. +9 133738349 rs121913453 G A . . RSPOS=133738349;dbSNPBuildID=133;SSR=0;SAO=3;VP=050260000a01000002100120;GENEINFO=ABL1:25;WGT=1;VC=SNV;PM;S3D;NSM;REF;OTHERKG;LSD;CLNALLE=1;CLNHGVS=NC_000009.11:g.133738349G>A;CLNSRC=.;CLNORIGIN=2;CLNSRCID=.;CLNSIG=255;CLNDSDB=.;CLNDSDBID=.;CLNDBN=.;CLNACC=. +9 133738356 rs121913458 G C . . RSPOS=133738356;dbSNPBuildID=133;SSR=0;SAO=3;VP=050260000a01000002100120;GENEINFO=ABL1:25;WGT=1;VC=SNV;PM;S3D;NSM;REF;OTHERKG;LSD;CLNALLE=1;CLNHGVS=NC_000009.11:g.133738356G>C;CLNSRC=.;CLNORIGIN=2;CLNSRCID=.;CLNSIG=255;CLNDSDB=.;CLNDSDBID=.;CLNDBN=.;CLNACC=. +9 133738357 rs121913461 T C . . RSPOS=133738357;dbSNPBuildID=133;SSR=0;SAO=3;VP=050260000a01000002110120;GENEINFO=ABL1:25;WGT=1;VC=SNV;PM;S3D;NSM;REF;OTHERKG;LSD;OM;CLNALLE=1;CLNHGVS=NC_000009.11:g.133738357T>C;CLNSRC=OMIM Allelic Variant;CLNORIGIN=1;CLNSRCID=189980.0004;CLNSIG=5;CLNDSDB=.;CLNDSDBID=.;CLNDBN=Leukemia\x2c philadelphia chromosome-positive\x2c resistant to imatinib;CLNACC=RCV000013462.1 +9 133738358 rs121913460 A T . . RSPOS=133738358;dbSNPBuildID=133;SSR=0;SAO=3;VP=050260000a01000002100120;GENEINFO=ABL1:25;WGT=1;VC=SNV;PM;S3D;NSM;REF;OTHERKG;LSD;CLNALLE=1;CLNHGVS=NC_000009.11:g.133738358A>T;CLNSRC=.;CLNORIGIN=2;CLNSRCID=.;CLNSIG=255;CLNDSDB=.;CLNDSDBID=.;CLNDBN=.;CLNACC=. +9 133738363 rs121913448 G A . . RSPOS=133738363;dbSNPBuildID=133;SSR=0;SAO=3;VP=050260000a01000002110120;GENEINFO=ABL1:25;WGT=1;VC=SNV;PM;S3D;NSM;REF;OTHERKG;LSD;OM;CLNALLE=1;CLNHGVS=NC_000009.11:g.133738363G>A;CLNSRC=OMIM Allelic Variant;CLNORIGIN=2;CLNSRCID=189980.0003;CLNSIG=5;CLNDSDB=.;CLNDSDBID=.;CLNDBN=Leukemia\x2c philadelphia chromosome-positive\x2c resistant to imatinib;CLNACC=RCV000013461.1 +9 133738364 rs121913449 A T . . RSPOS=133738364;dbSNPBuildID=133;SSR=0;SAO=3;VP=050260000a01000002110120;GENEINFO=ABL1:25;WGT=1;VC=SNV;PM;S3D;NSM;REF;OTHERKG;LSD;OM;CLNALLE=1;CLNHGVS=NC_000009.11:g.133738364A>T;CLNSRC=OMIM Allelic Variant;CLNORIGIN=2;CLNSRCID=189980.0002;CLNSIG=5;CLNDSDB=.;CLNDSDBID=.;CLNDBN=Leukemia\x2c philadelphia chromosome-positive\x2c resistant to imatinib;CLNACC=RCV000013460.1 +9 133747520 rs121913447 A G . . RSPOS=133747520;dbSNPBuildID=133;SSR=0;SAO=3;VP=050260000a01000002100120;GENEINFO=ABL1:25;WGT=1;VC=SNV;PM;S3D;NSM;REF;OTHERKG;LSD;CLNALLE=1;CLNHGVS=NC_000009.11:g.133747520A>G;CLNSRC=.;CLNORIGIN=2;CLNSRCID=.;CLNSIG=255;CLNDSDB=.;CLNDSDBID=.;CLNDBN=.;CLNACC=. +9 133748270 rs137853304 T C . . RSPOS=133748270;dbSNPBuildID=133;SSR=0;SAO=1;VP=050260000a01000002110100;GENEINFO=ABL1:25;WGT=1;VC=SNV;PM;S3D;NSM;REF;OTHERKG;LSD;OM;CLNALLE=1;CLNHGVS=NC_000009.11:g.133748270T>C;CLNSRC=OMIM Allelic Variant;CLNORIGIN=1;CLNSRCID=189980.0005;CLNSIG=5;CLNDSDB=.;CLNDSDBID=.;CLNDBN=Chronic myeloid leukemia\x2c resistant to imatinib;CLNACC=RCV000013463.1 +9 133748283 rs121913459 C T . . RSPOS=133748283;dbSNPBuildID=133;SSR=0;SAO=3;VP=050260000a01000002110120;GENEINFO=ABL1:25;WGT=1;VC=SNV;PM;S3D;NSM;REF;OTHERKG;LSD;OM;CLNALLE=1;CLNHGVS=NC_000009.11:g.133748283C>T;CLNSRC=OMIM Allelic Variant;CLNORIGIN=2;CLNSRCID=189980.0001;CLNSIG=5;CLNDSDB=.;CLNDSDBID=.;CLNDBN=Leukemia\x2c philadelphia chromosome-positive\x2c resistant to imatinib;CLNACC=RCV000013459.1 +9 133748290 rs121913451 C G . . RSPOS=133748290;dbSNPBuildID=133;SSR=0;SAO=3;VP=050260000a01000002100120;GENEINFO=ABL1:25;WGT=1;VC=SNV;PM;S3D;NSM;REF;OTHERKG;LSD;CLNALLE=1;CLNHGVS=NC_000009.11:g.133748290C>G;CLNSRC=.;CLNORIGIN=2;CLNSRCID=.;CLNSIG=255;CLNDSDB=.;CLNDSDBID=.;CLNDBN=.;CLNACC=. +9 133748391 rs121913457 T C . . RSPOS=133748391;dbSNPBuildID=133;SSR=0;SAO=3;VP=050260000a01000002110120;GENEINFO=ABL1:25;WGT=1;VC=SNV;PM;S3D;NSM;REF;OTHERKG;LSD;OM;CLNALLE=1;CLNHGVS=NC_000009.11:g.133748391T>C;CLNSRC=OMIM Allelic Variant;CLNORIGIN=1;CLNSRCID=189980.0006;CLNSIG=5;CLNDSDB=.;CLNDSDBID=.;CLNDBN=Chronic myeloid leukemia\x2c resistant to imatinib;CLNACC=RCV000013464.1 +9 133748403 rs121913450 A G . . RSPOS=133748403;dbSNPBuildID=133;SSR=0;SAO=3;VP=050260000a01000002100120;GENEINFO=ABL1:25;WGT=1;VC=SNV;PM;S3D;NSM;REF;OTHERKG;LSD;CLNALLE=1;CLNHGVS=NC_000009.11:g.133748403A>G;CLNSRC=.;CLNORIGIN=2;CLNSRCID=.;CLNSIG=255;CLNDSDB=.;CLNDSDBID=.;CLNDBN=.;CLNACC=. +9 133748414 rs121913452 T G . . RSPOS=133748414;dbSNPBuildID=133;SSR=0;SAO=3;VP=050260000a01000002100120;GENEINFO=ABL1:25;WGT=1;VC=SNV;PM;S3D;NSM;REF;OTHERKG;LSD;CLNALLE=1;CLNHGVS=NC_000009.11:g.133748414T>G;CLNSRC=.;CLNORIGIN=2;CLNSRCID=.;CLNSIG=255;CLNDSDB=.;CLNDSDBID=.;CLNDBN=.;CLNACC=. +9 133750356 rs121913454 A G . . RSPOS=133750356;dbSNPBuildID=133;SSR=0;SAO=3;VP=050260000a01000002100120;GENEINFO=ABL1:25;WGT=1;VC=SNV;PM;S3D;NSM;REF;OTHERKG;LSD;CLNALLE=1;CLNHGVS=NC_000009.11:g.133750356A>G;CLNSRC=.;CLNORIGIN=2;CLNSRCID=.;CLNSIG=255;CLNDSDB=.;CLNDSDBID=.;CLNDBN=.;CLNACC=. +10 43609069 rs77558292 T C . . RSPOS=43609069;dbSNPBuildID=131;SSR=0;SAO=1;VP=050068000a01000002110100;GENEINFO=RET:5979;WGT=1;VC=SNV;PM;PMC;NSM;REF;OTHERKG;LSD;OM;CLNALLE=1;CLNHGVS=NC_000010.10:g.43609069T>C;CLNSRC=OMIM Allelic Variant;CLNORIGIN=1;CLNSRCID=164761.0042;CLNSIG=5|5;CLNDSDB=GeneReviews:NCBI:OMIM:Orphanet|.;CLNDSDBID=NBK1257:C1833921:155240:1332|.;CLNDBN=Familial medullary thyroid carcinoma|MEN2A and FMTC;CLNACC=RCV000014971.1|RCV000021776.1 +10 43609070 rs77939446 G A . . RSPOS=43609070;dbSNPBuildID=131;SSR=0;SAO=1;VP=050060000a01000002110100;GENEINFO=RET:5979;WGT=1;VC=SNV;PM;NSM;REF;OTHERKG;LSD;OM;CLNALLE=1;CLNHGVS=NC_000010.10:g.43609070G>A;CLNSRC=OMIM Allelic Variant;CLNORIGIN=0;CLNSRCID=164761.0029;CLNSIG=5|5;CLNDSDB=.|.;CLNDSDBID=.|.;CLNDBN=MULTIPLE ENDOCRINE NEOPLASIA\x2c TYPE IIA\x2c WITH HIRSCHSPRUNG DISEASE|MEN2A and FMTC;CLNACC=RCV000014958.1|RCV000021778.1 +10 43609077 rs80069458 C G . . RSPOS=43609077;dbSNPBuildID=131;SSR=0;SAO=1;VP=050068000a01000002110100;GENEINFO=RET:5979;WGT=1;VC=SNV;PM;PMC;NSM;REF;OTHERKG;LSD;OM;CLNALLE=1;CLNHGVS=NC_000010.10:g.43609077C>G;CLNSRC=OMIM Allelic Variant;CLNORIGIN=0;CLNSRCID=164761.0007;CLNSIG=5|5;CLNDSDB=GeneReviews:NCBI:OMIM:Orphanet:Orphanet:SNOMED CT|.;CLNDSDBID=NBK1257:C0025268:171400:247698:653:61808009|.;CLNDBN=Multiple endocrine neoplasia\x2c type 2a|MEN2A and FMTC;CLNACC=RCV000014932.1|RCV000021788.1 +10 43609077 rs121913313 CTTCCCTGAGGAGGAGAAGTGCTTCTGC C . . RSPOS=43609078;dbSNPBuildID=133;SSR=0;SAO=0;VP=050060000001000002100200;GENEINFO=RET:5979;WGT=1;VC=DIV;PM;OTHERKG;LSD;CLNALLE=1;CLNHGVS=NC_000010.10:g.43609078_43609104del27;CLNSRC=.;CLNORIGIN=2;CLNSRCID=.;CLNSIG=255;CLNDSDB=.;CLNDSDBID=.;CLNDBN=.;CLNACC=. +10 43609096 rs76262710 T C,G . . RSPOS=43609096;dbSNPBuildID=131;SSR=0;SAO=1;VP=050068000a01000002110100;GENEINFO=RET:5979;WGT=1;VC=SNV;PM;PMC;NSM;REF;OTHERKG;LSD;OM;CLNALLE=1,2;CLNHGVS=NC_000010.10:g.43609096T>C,NC_000010.10:g.43609096T>G;CLNSRC=OMIM Allelic Variant,OMIM Allelic Variant;CLNORIGIN=1,1;CLNSRCID=164761.0025,164761.0001;CLNSIG=5|5,5|5;CLNDSDB=GeneReviews:NCBI:OMIM:Orphanet|.,GeneReviews:NCBI:OMIM:Orphanet:Orphanet:SNOMED CT|.;CLNDSDBID=NBK1257:C1833921:155240:1332|.,NBK1257:C0025268:171400:247698:653:61808009|.;CLNDBN=Familial medullary thyroid carcinoma|MEN2A and FMTC,Multiple endocrine neoplasia\x2c type 2a|MEN2A and Unclassified;CLNACC=RCV000014954.1|RCV000021792.1,RCV000014919.1|RCV000021793.1 +10 43609097 rs79781594 G C . . RSPOS=43609097;dbSNPBuildID=131;SSR=0;SAO=1;VP=050060000a01000002110100;GENEINFO=RET:5979;WGT=1;VC=SNV;PM;NSM;REF;OTHERKG;LSD;OM;CLNALLE=1;CLNHGVS=NC_000010.10:g.43609097G>C;CLNSRC=OMIM Allelic Variant;CLNORIGIN=1;CLNSRCID=164761.0008;CLNSIG=5|5|5;CLNDSDB=GeneReviews:NCBI:OMIM:Orphanet:Orphanet:SNOMED CT|GeneReviews:NCBI:OMIM:Orphanet|.;CLNDSDBID=NBK1257:C0025268:171400:247698:653:61808009|NBK1257:C1833921:155240:1332|.;CLNDBN=Multiple endocrine neoplasia\x2c type 2a|Familial medullary thyroid carcinoma|MEN2A and FMTC;CLNACC=RCV000014933.1|RCV000014934.1|RCV000021791.1 +10 43609102 rs77316810 T C . . RSPOS=43609102;dbSNPBuildID=131;SSR=0;SAO=1;VP=050068000a01000002110100;GENEINFO=RET:5979;WGT=1;VC=SNV;PM;PMC;NSM;REF;OTHERKG;LSD;OM;CLNALLE=1;CLNHGVS=NC_000010.10:g.43609102T>C;CLNSRC=OMIM Allelic Variant;CLNORIGIN=0;CLNSRCID=164761.0009;CLNSIG=5|5;CLNDSDB=GeneReviews:NCBI:OMIM:Orphanet:Orphanet:SNOMED CT|.;CLNDSDBID=NBK1257:C0025268:171400:247698:653:61808009|.;CLNDBN=Multiple endocrine neoplasia\x2c type 2a|MEN2A and FMTC;CLNACC=RCV000014935.1|RCV000021799.1 +10 43609103 rs77503355 G A,C,T . . RSPOS=43609103;dbSNPBuildID=131;SSR=0;SAO=1;VP=050060000a01000002110104;GENEINFO=RET:5979;WGT=1;VC=SNV;PM;NSM;REF;OTHERKG;LSD;OM;NOV;CLNALLE=1,2,3;CLNHGVS=NC_000010.10:g.43609103G>A,NC_000010.10:g.43609103G>C,NC_000010.10:g.43609103G>T;CLNSRC=OMIM Allelic Variant,OMIM Allelic Variant,OMIM Allelic Variant;CLNORIGIN=0,1,1;CLNSRCID=164761.0010,164761.0041,164761.0024;CLNSIG=5|5,5|5|5,5|5;CLNDSDB=GeneReviews:NCBI:OMIM:Orphanet:Orphanet:SNOMED CT|.,GeneReviews:NCBI:OMIM:Orphanet|.|.,GeneReviews:NCBI:OMIM:Orphanet:Orphanet:SNOMED CT|.;CLNDSDBID=NBK1257:C0025268:171400:247698:653:61808009|.,NBK1257:C1833921:155240:1332|.|.,NBK1257:C0025268:171400:247698:653:61808009|.;CLNDBN=Multiple endocrine neoplasia\x2c type 2a|MEN2A and FMTC,Familial medullary thyroid carcinoma|MEN2A and Unclassified|MEN2A and FMTC,Multiple endocrine neoplasia\x2c type 2a|MEN2A and FMTC;CLNACC=RCV000014936.1|RCV000021801.1,RCV000014970.1|RCV000021798.1|RCV000021802.1,RCV000014953.1|RCV000021803.1 +10 43609104 rs79890926 C G . . RSPOS=43609104;dbSNPBuildID=131;SSR=0;SAO=1;VP=050060000a01000002110100;GENEINFO=RET:5979;WGT=1;VC=SNV;PM;NSM;REF;OTHERKG;LSD;OM;CLNALLE=1;CLNHGVS=NC_000010.10:g.43609104C>G;CLNSRC=OMIM Allelic Variant;CLNORIGIN=0;CLNSRCID=164761.0032;CLNSIG=5|5;CLNDSDB=.|.;CLNDSDBID=.|.;CLNDBN=MULTIPLE ENDOCRINE NEOPLASIA\x2c TYPE IIA\x2c WITH HIRSCHSPRUNG DISEASE|MEN2A and Unclassified;CLNACC=RCV000014959.1|RCV000021789.1 +10 43609926 rs193922699 A G . . RSPOS=43609926;dbSNPBuildID=136;SSR=0;SAO=1;VP=050068200001000002100100;GENEINFO=RET:5979;WGT=1;VC=SNV;PM;PMC;ASS;OTHERKG;LSD;CLNALLE=1;CLNHGVS=NC_000010.10:g.43609926A>G;CLNSRC=.;CLNORIGIN=1;CLNSRCID=.;CLNSIG=4;CLNDSDB=.;CLNDSDBID=.;CLNDBN=.;CLNACC=. +10 43609940 rs121913308 A G . . RSPOS=43609940;dbSNPBuildID=133;SSR=0;SAO=3;VP=050060000a01000002100120;GENEINFO=RET:5979;WGT=1;VC=SNV;PM;NSM;REF;OTHERKG;LSD;CLNALLE=1;CLNHGVS=NC_000010.10:g.43609940A>G;CLNSRC=.;CLNORIGIN=2;CLNSRCID=.;CLNSIG=0;CLNDSDB=.;CLNDSDBID=.;CLNDBN=MEN2 phenotype: Unknown;CLNACC=RCV000021814.1 +10 43609940 rs121913307 ACGAGCT A . . RSPOS=43609941;dbSNPBuildID=133;SSR=0;SAO=0;VP=050060000201000002100200;GENEINFO=RET:5979;WGT=1;VC=DIV;PM;REF;OTHERKG;LSD;CLNALLE=1;CLNHGVS=NC_000010.10:g.43609941_43609946delCGAGCT;CLNSRC=.;CLNORIGIN=2;CLNSRCID=.;CLNSIG=255;CLNDSDB=.;CLNDSDBID=.;CLNDBN=.;CLNACC=. +10 43609941 rs121913312 CGAGCTG C . . RSPOS=43609942;dbSNPBuildID=133;SSR=0;SAO=0;VP=050060000001000002100200;GENEINFO=RET:5979;WGT=1;VC=DIV;PM;OTHERKG;LSD;CLNALLE=1;CLNHGVS=NC_000010.10:g.43609942_43609947delGAGCTG;CLNSRC=.;CLNORIGIN=2;CLNSRCID=.;CLNSIG=255;CLNDSDB=.;CLNDSDBID=.;CLNDBN=.;CLNACC=. +10 43609942 rs121913311 GAGC G . . RSPOS=43609943;dbSNPBuildID=133;SSR=0;SAO=0;VP=050060000201000002100200;GENEINFO=RET:5979;WGT=1;VC=DIV;PM;REF;OTHERKG;LSD;CLNALLE=1;CLNHGVS=NC_000010.10:g.43609943_43609945delAGC;CLNSRC=.;CLNORIGIN=2;CLNSRCID=.;CLNSIG=255;CLNDSDB=.;CLNDSDBID=.;CLNDBN=.;CLNACC=. +10 43609942 rs121913310 GAGCTGTGCCGCACGGTGATCGCAG GTGCGGC . . RSPOS=43609943;dbSNPBuildID=133;SSR=0;SAO=3;VP=050060000201000002100220;GENEINFO=RET:5979;WGT=1;VC=DIV;PM;REF;OTHERKG;LSD;CLNALLE=1;CLNHGVS=NC_000010.10:g.43609943_43609966delinsTGCGGC;CLNSRC=.;CLNORIGIN=2;CLNSRCID=.;CLNSIG=255;CLNDSDB=.;CLNDSDBID=.;CLNDBN=.;CLNACC=. +10 43609944 rs267607009 G C,T . . RSPOS=43609944;dbSNPBuildID=136;SSR=0;SAO=0;VP=050060000a01000002110100;GENEINFO=RET:5979;WGT=1;VC=SNV;PM;NSM;REF;OTHERKG;LSD;OM;CLNALLE=-1;CLNHGVS=NC_000010.10:g.43609944G>Y;CLNSRC=OMIM Allelic Variant;CLNORIGIN=.;CLNSRCID=164761.0002;CLNSIG=5;CLNDSDB=GeneReviews:NCBI:OMIM:Orphanet:Orphanet:SNOMED CT;CLNDSDBID=NBK1257:C0025268:171400:247698:653:61808009;CLNDBN=Multiple endocrine neoplasia\x2c type 2a;CLNACC=RCV000014920.1 +10 43609945 rs267607010 C G . . RSPOS=43609945;dbSNPBuildID=136;SSR=0;SAO=0;VP=050060000a01000002110100;GENEINFO=RET:5979;WGT=1;VC=SNV;PM;NSM;REF;OTHERKG;LSD;OM;CLNALLE=1;CLNHGVS=NC_000010.10:g.43609945C>G;CLNSRC=OMIM Allelic Variant;CLNORIGIN=.;CLNSRCID=164761.0002;CLNSIG=5;CLNDSDB=GeneReviews:NCBI:OMIM:Orphanet:Orphanet:SNOMED CT;CLNDSDBID=NBK1257:C0025268:171400:247698:653:61808009;CLNDBN=Multiple endocrine neoplasia\x2c type 2a;CLNACC=RCV000014920.1 +10 43609948 rs75076352 T C,G . . RSPOS=43609948;dbSNPBuildID=131;SSR=0;SAO=3;VP=050068000a01000002110120;GENEINFO=RET:5979;WGT=1;VC=SNV;PM;PMC;NSM;REF;OTHERKG;LSD;OM;CLNALLE=1,2;CLNHGVS=NC_000010.10:g.43609948T>C,NC_000010.10:g.43609948T>G;CLNSRC=OMIM Allelic Variant,OMIM Allelic Variant;CLNORIGIN=2,1;CLNSRCID=164761.0011,164761.0003;CLNSIG=5|5|5,5|5|5;CLNDSDB=GeneReviews:NCBI:OMIM:Orphanet:Orphanet:SNOMED CT|GeneReviews:NCBI:OMIM:Orphanet|.,GeneReviews:NCBI:OMIM:Orphanet:Orphanet:SNOMED CT|GeneReviews:NCBI:OMIM:Orphanet|.;CLNDSDBID=NBK1257:C0025268:171400:247698:653:61808009|NBK1548:C0031511:171300:29072|.,NBK1257:C0025268:171400:247698:653:61808009|NBK1548:C0031511:171300:29072|.;CLNDBN=Multiple endocrine neoplasia\x2c type 2a|Pheochromocytoma|MEN2A and FMTC,Multiple endocrine neoplasia\x2c type 2a|Pheochromocytoma|MEN2A and Unclassified;CLNACC=RCV000014937.1|RCV000014938.1|RCV000021821.1,RCV000014922.1|RCV000014923.1|RCV000021822.1 +10 43609949 rs75996173 G A,C,T . . RSPOS=43609949;dbSNPBuildID=131;SSR=0;SAO=3;VP=050068000a01000002110124;GENEINFO=RET:5979;WGT=1;VC=SNV;PM;PMC;NSM;REF;OTHERKG;LSD;OM;NOV;CLNALLE=1,2,3;CLNHGVS=NC_000010.10:g.43609949G>A,NC_000010.10:g.43609949G>C,NC_000010.10:g.43609949G>T;CLNSRC=OMIM Allelic Variant,OMIM Allelic Variant,OMIM Allelic Variant;CLNORIGIN=2,1,0;CLNSRCID=164761.0004,164761.0005,164761.0006;CLNSIG=5|5|5,5|5|5|5,5|5|5|5;CLNDSDB=GeneReviews:NCBI:OMIM:Orphanet:Orphanet:SNOMED CT|GeneReviews:NCBI:OMIM:Orphanet|.,GeneReviews:NCBI:OMIM:Orphanet:Orphanet:SNOMED CT|GeneReviews:NCBI:OMIM:Orphanet|.|.,GeneReviews:NCBI:OMIM:Orphanet:Orphanet:SNOMED CT|GeneReviews:NCBI:OMIM:Orphanet|GeneReviews:NCBI:OMIM:Orphanet|.;CLNDSDBID=NBK1257:C0025268:171400:247698:653:61808009|NBK1548:C0031511:171300:29072|.,NBK1257:C0025268:171400:247698:653:61808009|NBK1548:C0031511:171300:29072|.|.,NBK1257:C0025268:171400:247698:653:61808009|NBK1257:C1833921:155240:1332|NBK1548:C0031511:171300:29072|.;CLNDBN=Multiple endocrine neoplasia\x2c type 2a|Pheochromocytoma|MEN2A and FMTC,Multiple endocrine neoplasia\x2c type 2a|Pheochromocytoma|MEN2A and Unclassified|MEN2A and FMTC,Multiple endocrine neoplasia\x2c type 2a|Familial medullary thyroid carcinoma|Pheochromocytoma|MEN2A and FMTC;CLNACC=RCV000014924.1|RCV000014925.1|RCV000021823.1,RCV000014926.1|RCV000014927.1|RCV000021820.1|RCV000021824.1,RCV000014928.1|RCV000014929.1|RCV000014930.1|RCV000021825.1 +10 43609950 rs77709286 C G . . RSPOS=43609950;dbSNPBuildID=131;SSR=0;SAO=3;VP=050068000a01000002110120;GENEINFO=RET:5979;WGT=1;VC=SNV;PM;PMC;NSM;REF;OTHERKG;LSD;OM;CLNALLE=1;CLNHGVS=NC_000010.10:g.43609950C>G;CLNSRC=OMIM Allelic Variant;CLNORIGIN=2;CLNSRCID=164761.0012;CLNSIG=5|5|5;CLNDSDB=GeneReviews:NCBI:OMIM:Orphanet:Orphanet:SNOMED CT|GeneReviews:NCBI:OMIM:Orphanet|.;CLNDSDBID=NBK1257:C0025268:171400:247698:653:61808009|NBK1548:C0031511:171300:29072|.;CLNDBN=Multiple endocrine neoplasia\x2c type 2a|Pheochromocytoma|MEN2A and FMTC;CLNACC=RCV000014939.1|RCV000014940.1|RCV000021827.1 +10 43609967 rs78935588 C G . . RSPOS=43609967;dbSNPBuildID=131;SSR=0;SAO=1;VP=050068000a01000002110100;GENEINFO=RET:5979;WGT=1;VC=SNV;PM;PMC;NSM;REF;OTHERKG;LSD;OM;CLNALLE=1;CLNHGVS=NC_000010.10:g.43609967C>G;CLNSRC=OMIM Allelic Variant;CLNORIGIN=1;CLNSRCID=164761.0040;CLNSIG=5|0;CLNDSDB=GeneReviews:NCBI:OMIM:Orphanet:Orphanet:SNOMED CT|.;CLNDSDBID=NBK1257:C0025268:171400:247698:653:61808009|.;CLNDBN=Multiple endocrine neoplasia\x2c type 2a|MEN2 phenotype: Unknown;CLNACC=RCV000014969.1|RCV000021832.1 +10 43609989 rs75225191 C T . . RSPOS=43609989;dbSNPBuildID=131;SSR=0;SAO=1;VP=050068000301000002110100;GENEINFO=RET:5979;WGT=1;VC=SNV;PM;PMC;REF;SYN;OTHERKG;LSD;OM;CLNALLE=1;CLNHGVS=NC_000010.10:g.43609989C>T;CLNSRC=OMIM Allelic Variant;CLNORIGIN=0;CLNSRCID=164761.0037;CLNSIG=255;CLNDSDB=GeneReviews:NCBI:OMIM:Orphanet:SNOMED CT:SNOMED CT;CLNDSDBID=NBK1439:CN030431:142623:388:204739008:A2933129;CLNDBN=Hirschsprung disease 1;CLNACC=RCV000014966.1 +10 43609990 rs77711105 G A . . RSPOS=43609990;dbSNPBuildID=131;SSR=0;SAO=1;VP=050060000a01040002110100;GENEINFO=RET:5979;WGT=1;VC=SNV;PM;NSM;REF;VLD;OTHERKG;LSD;OM;CLNALLE=1;CLNHGVS=NC_000010.10:g.43609990G>A;CLNSRC=OMIM Allelic Variant;CLNORIGIN=0;CLNSRCID=164761.0047;CLNSIG=5|0;CLNDSDB=GeneReviews:NCBI:OMIM:Orphanet:Orphanet:SNOMED CT|.;CLNDSDBID=NBK1257:C0025268:171400:247698:653:61808009|.;CLNDBN=Multiple endocrine neoplasia\x2c type 2a|MEN2 phenotype: Unknown;CLNACC=RCV000014976.1|RCV000021834.1 +10 43613829 rs75075748 T C . . RSPOS=43613829;dbSNPBuildID=131;SSR=0;SAO=1;VP=050260000a01000002110100;GENEINFO=RET:5979;WGT=1;VC=SNV;PM;S3D;NSM;REF;OTHERKG;LSD;OM;CLNALLE=1;CLNHGVS=NC_000010.10:g.43613829T>C;CLNSRC=OMIM Allelic Variant;CLNORIGIN=0;CLNSRCID=164761.0015;CLNSIG=255;CLNDSDB=GeneReviews:NCBI:OMIM:Orphanet:SNOMED CT:SNOMED CT;CLNDSDBID=NBK1439:CN030431:142623:388:204739008:A2933129;CLNDBN=Hirschsprung disease 1;CLNACC=RCV000014921.1 +10 43613840 rs78014899 G A,C . . RSPOS=43613840;dbSNPBuildID=131;SSR=0;SAO=3;VP=050268000b01000002110120;GENEINFO=RET:5979;WGT=1;VC=SNV;PM;PMC;S3D;NSM;REF;SYN;OTHERKG;LSD;OM;CLNALLE=1,2;CLNHGVS=NC_000010.10:g.43613840G>A,NC_000010.10:g.43613840G>C;CLNSRC=.,OMIM Allelic Variant;CLNORIGIN=0,2;CLNSRCID=.,164761.0027;CLNSIG=5,5|5|5;CLNDSDB=.,GeneReviews:NCBI:OMIM:Orphanet|.|.;CLNDSDBID=.,NBK1257:C1833921:155240:1332|.|.;CLNDBN=.,Familial medullary thyroid carcinoma|MEN2A and FMTC|MEN2 phenotype: Unclassified;CLNACC=.,RCV000014956.1|RCV000021842.1|RCV000021843.1 +10 43613868 rs75686697 G A . . RSPOS=43613868;dbSNPBuildID=131;SSR=0;SAO=1;VP=050260000a01000002110100;GENEINFO=RET:5979;WGT=1;VC=SNV;PM;S3D;NSM;REF;OTHERKG;LSD;OM;CLNALLE=1;CLNHGVS=NC_000010.10:g.43613868G>A;CLNSRC=OMIM Allelic Variant;CLNORIGIN=0;CLNSRCID=164761.0053;CLNSIG=5|0;CLNDSDB=NCBI:OMIM:Orphanet|.;CLNDSDBID=C1619700:191830:1848|.;CLNDBN=Renal adysplasia|MEN2 phenotype: Unknown;CLNACC=RCV000014983.1|RCV000021847.1 +10 43613906 rs75030001 G C . . RSPOS=43613906;dbSNPBuildID=131;SSR=0;SAO=1;VP=050260000a01000002110100;GENEINFO=RET:5979;WGT=1;VC=SNV;PM;S3D;NSM;REF;OTHERKG;LSD;OM;CLNALLE=1;CLNHGVS=NC_000010.10:g.43613906G>C;CLNSRC=OMIM Allelic Variant;CLNORIGIN=0;CLNSRCID=164761.0033;CLNSIG=5|5|5;CLNDSDB=GeneReviews:NCBI:OMIM:Orphanet:Orphanet:SNOMED CT|GeneReviews:NCBI:OMIM:Orphanet|.;CLNDSDBID=NBK1257:C0025268:171400:247698:653:61808009|NBK1257:C1833921:155240:1332|.;CLNDBN=Multiple endocrine neoplasia\x2c type 2a|Familial medullary thyroid carcinoma|MEN2A and FMTC;CLNACC=RCV000014960.1|RCV000014961.1|RCV000021849.1 +10 43613908 rs77724903 A T . . RSPOS=43613908;dbSNPBuildID=131;SSR=0;SAO=1;VP=050268000a01040002110100;GENEINFO=RET:5979;WGT=1;VC=SNV;PM;PMC;S3D;NSM;REF;VLD;OTHERKG;LSD;OM;CLNALLE=1;CLNHGVS=NC_000010.10:g.43613908A>T;CLNSRC=OMIM Allelic Variant;CLNORIGIN=0;CLNSRCID=164761.0034;CLNSIG=5|5|5;CLNDSDB=GeneReviews:NCBI:OMIM:Orphanet|GeneReviews:NCBI:OMIM:Orphanet|.;CLNDSDBID=NBK1257:C1833921:155240:1332|NBK1548:C0031511:171300:29072|.;CLNDBN=Familial medullary thyroid carcinoma|Pheochromocytoma|MEN2A and FMTC;CLNACC=RCV000014962.1|RCV000014963.1|RCV000021851.1 +10 43615566 rs121913306 TAGC TTTT . . RSPOS=43615567;dbSNPBuildID=133;SSR=0;SAO=3;VP=050060000201000002100820;GENEINFO=RET:5979;WGT=1;VC=MNV;PM;REF;OTHERKG;LSD;CLNALLE=1;CLNHGVS=NC_000010.10:g.43615567_43615569delinsTTT;CLNSRC=.;CLNORIGIN=2;CLNSRCID=.;CLNSIG=255;CLNDSDB=.;CLNDSDBID=.;CLNDBN=.;CLNACC=. +10 43615592 rs75234356 T G . . RSPOS=43615592;dbSNPBuildID=131;SSR=0;SAO=1;VP=050268000a01000002110100;GENEINFO=RET:5979;WGT=1;VC=SNV;PM;PMC;S3D;NSM;REF;OTHERKG;LSD;OM;CLNALLE=1;CLNHGVS=NC_000010.10:g.43615592T>G;CLNSRC=OMIM Allelic Variant;CLNORIGIN=1;CLNSRCID=164761.0049;CLNSIG=5|5|5;CLNDSDB=GeneReviews:NCBI:OMIM:Orphanet:Orphanet:SNOMED CT|GeneReviews:NCBI:OMIM:Orphanet|.;CLNDSDBID=NBK1257:C0025268:171400:247698:653:61808009|NBK1257:C1833921:155240:1332|.;CLNDBN=Multiple endocrine neoplasia\x2c type 2a|Familial medullary thyroid carcinoma|MEN2A and FMTC;CLNACC=RCV000014978.1|RCV000014979.1|RCV000021875.1 +10 43615611 rs76087194 G A . . RSPOS=43615611;dbSNPBuildID=131;SSR=0;SAO=1;VP=050260000a01000002110100;GENEINFO=RET:5979;WGT=1;VC=SNV;PM;S3D;NSM;REF;OTHERKG;LSD;OM;CLNALLE=1;CLNHGVS=NC_000010.10:g.43615611G>A;CLNSRC=OMIM Allelic Variant;CLNORIGIN=1;CLNSRCID=164761.0016;CLNSIG=255;CLNDSDB=GeneReviews:NCBI:OMIM:Orphanet:SNOMED CT:SNOMED CT;CLNDSDBID=NBK1439:CN030431:142623:388:204739008:A2933129;CLNDBN=Hirschsprung disease 1;CLNACC=RCV000014946.1 +10 43615612 rs121913309 AGATGTTTATGAA A . . RSPOS=43615613;dbSNPBuildID=133;SSR=0;SAO=0;VP=050060000001000002100200;GENEINFO=RET:5979;WGT=1;VC=DIV;PM;OTHERKG;LSD;CLNALLE=1;CLNHGVS=NC_000010.10:g.43615613_43615624delGATGTTTATGAA;CLNSRC=.;CLNORIGIN=2;CLNSRCID=.;CLNSIG=255;CLNDSDB=.;CLNDSDBID=.;CLNDBN=.;CLNACC=. +10 43615632 rs267607011 C G . . RSPOS=43615632;dbSNPBuildID=136;SSR=0;SAO=0;VP=050060000a01000002110100;GENEINFO=RET:5979;WGT=1;VC=SNV;PM;NSM;REF;OTHERKG;LSD;OM;CLNALLE=1;CLNHGVS=NC_000010.10:g.43615632C>G;CLNSRC=OMIM Allelic Variant;CLNORIGIN=.;CLNSRCID=164761.0043;CLNSIG=5;CLNDSDB=GeneReviews:NCBI:OMIM:OMIM:Orphanet:Orphanet:SNOMED CT:SNOMED CT;CLNDSDBID=NBK1257:C0025269:162300:C1834211:247709:653:6153000:61530001;CLNDBN=Multiple endocrine neoplasia\x2c type 2b;CLNACC=RCV000014972.1 +10 43617398 rs78347871 G C,T . . RSPOS=43617398;dbSNPBuildID=131;SSR=0;SAO=1;VP=050268000a01000002110100;GENEINFO=RET:5979;WGT=1;VC=SNV;PM;PMC;S3D;NSM;REF;OTHERKG;LSD;OM;CLNALLE=1;CLNHGVS=NC_000010.10:g.43617398G>C;CLNSRC=OMIM Allelic Variant;CLNORIGIN=1;CLNSRCID=164761.0051;CLNSIG=5|5;CLNDSDB=GeneReviews:NCBI:OMIM:Orphanet|.;CLNDSDBID=NBK1257:C1833921:155240:1332|.;CLNDBN=Familial medullary thyroid carcinoma|MEN2 phenotype: Unclassified;CLNACC=RCV000014981.1|RCV000021883.1 +10 43617416 rs74799832 T C . . RSPOS=43617416;dbSNPBuildID=131;SSR=0;SAO=3;VP=050268000a01000002110120;GENEINFO=RET:5979;WGT=1;VC=SNV;PM;PMC;S3D;NSM;REF;OTHERKG;LSD;OM;CLNALLE=1;CLNHGVS=NC_000010.10:g.43617416T>C;CLNSRC=OMIM Allelic Variant;CLNORIGIN=0;CLNSRCID=164761.0013;CLNSIG=5|5|255|1;CLNDSDB=GeneReviews:NCBI:OMIM:OMIM:Orphanet:Orphanet:SNOMED CT:SNOMED CT|.|.|NCBI:OMIM:Orphanet;CLNDSDBID=NBK1257:C0025269:162300:C1834211:247709:653:6153000:61530001|.|.|C1619700:191830:1848;CLNDBN=Multiple endocrine neoplasia\x2c type 2b|Thyroid carcinoma\x2c sporadic medullary|Pheochromocytoma\x2c somatic|Renal adysplasia;CLNACC=RCV000014941.1|RCV000014942.1|RCV000014943.1|RCV000014944.1 +10 89624241 rs121913290 CAA C . . RSPOS=89624243;dbSNPBuildID=133;SSR=0;SAO=0;VP=050060001201000002100200;GENEINFO=PTEN:5728|KLLN:100144748;WGT=1;VC=DIV;PM;NSF;REF;OTHERKG;LSD;CLNALLE=1;CLNHGVS=NC_000010.10:g.89624243_89624244delAA;CLNSRC=.;CLNORIGIN=2;CLNSRCID=.;CLNSIG=255;CLNDSDB=.;CLNDSDBID=.;CLNDBN=.;CLNACC=. +10 89624281 rs121909233 G A . . RSPOS=89624281;dbSNPBuildID=133;SSR=0;SAO=1;VP=050260020a01000002110100;GENEINFO=PTEN:5728|KLLN:100144748;WGT=1;VC=SNV;PM;S3D;NSM;REF;R5;OTHERKG;LSD;OM;CLNALLE=1;CLNHGVS=NC_000010.10:g.89624281G>A;CLNSRC=OMIM Allelic Variant;CLNORIGIN=1;CLNSRCID=601728.0025;CLNSIG=255;CLNDSDB=.;CLNDSDBID=.;CLNDBN=Malignant melanoma\x2c somatic;CLNACC=RCV000008285.1 +10 89685286 rs121909236 C G . . RSPOS=89685286;dbSNPBuildID=133;SSR=0;SAO=1;VP=050260000a01000002110100;GENEINFO=PTEN:5728;WGT=1;VC=SNV;PM;S3D;NSM;REF;OTHERKG;LSD;OM;CLNALLE=1;CLNHGVS=NC_000010.10:g.89685286C>G;CLNSRC=OMIM Allelic Variant;CLNORIGIN=1;CLNSRCID=601728.0030;CLNSIG=5;CLNDSDB=NCBI;CLNDSDBID=C2749240;CLNDBN=Vater association with macrocephaly and ventriculomegaly;CLNACC=RCV000008290.1 +10 89685314 rs121909226 T C . . RSPOS=89685314;dbSNPBuildID=133;SSR=0;SAO=1;VP=050260000a01000002110100;GENEINFO=PTEN:5728;WGT=1;VC=SNV;PM;S3D;NSM;REF;OTHERKG;LSD;OM;CLNALLE=1;CLNHGVS=NC_000010.10:g.89685314T>C;CLNSRC=OMIM Allelic Variant;CLNORIGIN=1;CLNSRCID=601728.0012;CLNSIG=5;CLNDSDB=NCBI:OMIM:Orphanet;CLNDSDBID=C2676500:612359:201;CLNDBN=Cowden-like syndrome;CLNACC=RCV000008272.1 +10 89711892 rs121909221 T A . . RSPOS=89711892;dbSNPBuildID=133;SSR=0;SAO=1;VP=050260000a01000002110100;GENEINFO=PTEN:5728;WGT=1;VC=SNV;PM;S3D;NSM;REF;OTHERKG;LSD;OM;CLNALLE=1;CLNHGVS=NC_000010.10:g.89711892T>A;CLNSRC=OMIM Allelic Variant;CLNORIGIN=1;CLNSRCID=601728.0004;CLNSIG=5;CLNDSDB=GeneReviews:NCBI:OMIM:Orphanet;CLNDSDBID=NBK1488:C0265326:153480:109;CLNDBN=Bannayan-Riley-Ruvalcaba syndrome;CLNACC=RCV000008259.1 +10 89711899 rs121913293 C T . . RSPOS=89711899;dbSNPBuildID=133;SSR=0;SAO=3;VP=050260000a01000002100120;GENEINFO=PTEN:5728;WGT=1;VC=SNV;PM;S3D;NSM;REF;OTHERKG;LSD;CLNALLE=1;CLNHGVS=NC_000010.10:g.89711899C>T;CLNSRC=.;CLNORIGIN=2;CLNSRCID=.;CLNSIG=255;CLNDSDB=.;CLNDSDBID=.;CLNDBN=.;CLNACC=. +10 89711900 rs121913294 G A . . RSPOS=89711900;dbSNPBuildID=133;SSR=0;SAO=3;VP=050260000a01000002100120;GENEINFO=PTEN:5728;WGT=1;VC=SNV;PM;S3D;NSM;REF;OTHERKG;LSD;CLNALLE=1;CLNHGVS=NC_000010.10:g.89711900G>A;CLNSRC=.;CLNORIGIN=2;CLNSRCID=.;CLNSIG=255;CLNDSDB=.;CLNDSDBID=.;CLNDBN=.;CLNACC=. +10 89711916 rs104894184 T A,G . . RSPOS=89711916;dbSNPBuildID=132;SSR=0;SAO=0;VP=050260000601000002110100;GENEINFO=PTEN:5728;WGT=1;VC=SNV;PM;S3D;NSN;REF;OTHERKG;LSD;OM;CLNALLE=1,2;CLNHGVS=NC_000010.10:g.89711916T>A,NC_000010.10:g.89711916T>G;CLNSRC=.,.;CLNORIGIN=.,.;CLNSRCID=.,.;CLNSIG=1,1;CLNDSDB=.,.;CLNDSDBID=.,.;CLNDBN=.,.;CLNACC=.,. +10 89712015 rs121909232 C A . . RSPOS=89712015;dbSNPBuildID=133;SSR=0;SAO=1;VP=050260000601000002110100;GENEINFO=PTEN:5728;WGT=1;VC=SNV;PM;S3D;NSN;REF;OTHERKG;LSD;OM;CLNALLE=1;CLNHGVS=NC_000010.10:g.89712015C>A;CLNSRC=OMIM Allelic Variant;CLNORIGIN=1;CLNSRCID=601728.0024;CLNSIG=255;CLNDSDB=.;CLNDSDBID=.;CLNDBN=Malignant melanoma\x2c somatic;CLNACC=RCV000008284.1 +10 89717615 rs121909227 C T . . RSPOS=89717615;dbSNPBuildID=133;SSR=0;SAO=1;VP=050260000601000002110100;GENEINFO=PTEN:5728;WGT=1;VC=SNV;PM;S3D;NSN;REF;OTHERKG;LSD;OM;CLNALLE=1;CLNHGVS=NC_000010.10:g.89717615C>T;CLNSRC=OMIM Allelic Variant;CLNORIGIN=1;CLNSRCID=601728.0015;CLNSIG=5;CLNDSDB=GeneReviews:NCBI:OMIM:Orphanet;CLNDSDBID=NBK1488:C0265326:153480:109;CLNDBN=Bannayan-Riley-Ruvalcaba syndrome;CLNACC=RCV000008273.1 +10 89717624 rs121909234 G A . . RSPOS=89717624;dbSNPBuildID=133;SSR=0;SAO=1;VP=050260000a01000002110100;GENEINFO=PTEN:5728;WGT=1;VC=SNV;PM;S3D;NSM;REF;OTHERKG;LSD;OM;CLNALLE=1;CLNHGVS=NC_000010.10:g.89717624G>A;CLNSRC=OMIM Allelic Variant;CLNORIGIN=1;CLNSRCID=601728.0026;CLNSIG=255;CLNDSDB=.;CLNDSDBID=.;CLNDBN=Malignant melanoma\x2c somatic;CLNACC=RCV000008286.1 +10 89717672 rs121909219 C T . . RSPOS=89717672;dbSNPBuildID=133;SSR=0;SAO=3;VP=050260000601000002110120;GENEINFO=PTEN:5728;WGT=1;VC=SNV;PM;S3D;NSN;REF;OTHERKG;LSD;OM;CLNALLE=1;CLNHGVS=NC_000010.10:g.89717672C>T;CLNSRC=OMIM Allelic Variant;CLNORIGIN=1;CLNSRCID=601728.0002;CLNSIG=5|5;CLNDSDB=GeneReviews:NCBI:OMIM:Orphanet:Orphanet:SNOMED CT|GeneReviews:NCBI:OMIM:Orphanet;CLNDSDBID=NBK1488:C0018553:158350:201:65285:58037000|NBK1488:C0265326:153480:109;CLNDBN=Cowden disease|Bannayan-Riley-Ruvalcaba syndrome;CLNACC=RCV000008256.1|RCV000008257.1 +10 89717676 rs121909235 G A . . RSPOS=89717676;dbSNPBuildID=133;SSR=0;SAO=1;VP=050260000a01000002110100;GENEINFO=PTEN:5728;WGT=1;VC=SNV;PM;S3D;NSM;REF;OTHERKG;LSD;OM;CLNALLE=1;CLNHGVS=NC_000010.10:g.89717676G>A;CLNSRC=OMIM Allelic Variant;CLNORIGIN=1;CLNSRCID=601728.0029;CLNSIG=255|5;CLNDSDB=NCBI:OMIM:Orphanet|NCBI;CLNDSDBID=C2751642:613028:46484|C0025286;CLNDBN=Glioma susceptibility 2|Meningioma;CLNACC=RCV000008288.1|RCV000008289.1 +10 89717697 rs121909240 T C . . RSPOS=89717697;dbSNPBuildID=133;SSR=0;SAO=1;VP=050260000a01000002110100;GENEINFO=PTEN:5728;WGT=1;VC=SNV;PM;S3D;NSM;REF;OTHERKG;LSD;OM;CLNALLE=1;CLNHGVS=NC_000010.10:g.89717697T>C;CLNSRC=OMIM Allelic Variant;CLNORIGIN=1;CLNSRCID=601728.0039;CLNSIG=5;CLNDSDB=NCBI:OMIM:Orphanet;CLNDSDBID=C1854416:605309:210548;CLNDBN=Macrocephaly/autism syndrome;CLNACC=RCV000008300.1 +10 89717730 rs121909239 A G . . RSPOS=89717730;dbSNPBuildID=133;SSR=0;SAO=1;VP=050260000a01000002110100;GENEINFO=PTEN:5728;WGT=1;VC=SNV;PM;S3D;NSM;REF;OTHERKG;LSD;OM;CLNALLE=1;CLNHGVS=NC_000010.10:g.89717730A>G;CLNSRC=OMIM Allelic Variant;CLNORIGIN=1;CLNSRCID=601728.0038;CLNSIG=5;CLNDSDB=NCBI:OMIM:Orphanet;CLNDSDBID=C1854416:605309:210548;CLNDBN=Macrocephaly/autism syndrome;CLNACC=RCV000008299.1 +10 89717741 rs121909228 G T . . RSPOS=89717741;dbSNPBuildID=133;SSR=0;SAO=1;VP=050260000601000002110100;GENEINFO=PTEN:5728;WGT=1;VC=SNV;PM;S3D;NSN;REF;OTHERKG;LSD;OM;CLNALLE=1;CLNHGVS=NC_000010.10:g.89717741G>T;CLNSRC=OMIM Allelic Variant;CLNORIGIN=1;CLNSRCID=601728.0016;CLNSIG=5;CLNDSDB=GeneReviews:NCBI:OMIM:Orphanet;CLNDSDBID=NBK1488:C0265326:153480:109;CLNDBN=Bannayan-Riley-Ruvalcaba syndrome;CLNACC=RCV000008274.1 +10 89717769 rs121913289 TA T . . RSPOS=89717775;dbSNPBuildID=133;SSR=0;SAO=0;VP=050060001201000002100200;GENEINFO=PTEN:5728;WGT=1;VC=DIV;PM;NSF;REF;OTHERKG;LSD;CLNALLE=1;CLNHGVS=NC_000010.10:g.89717775delA;CLNSRC=.;CLNORIGIN=2;CLNSRCID=.;CLNSIG=255;CLNDSDB=.;CLNDSDBID=.;CLNDBN=.;CLNACC=. +10 89720799 rs146650273 TACTT T . . RSPOS=89720804;dbSNPBuildID=134;SSR=0;SAO=3;VP=050268000601000002100220;GENEINFO=PTEN:5728;WGT=1;VC=DIV;PM;PMC;S3D;NSN;REF;OTHERKG;LSD;CLNALLE=1;CLNHGVS=NC_000010.10:g.89720804_89720807delACTT;CLNSRC=.;CLNORIGIN=2;CLNSRCID=.;CLNSIG=255;CLNDSDB=.;CLNDSDBID=.;CLNDBN=.;CLNACC=. +10 89720811 rs121913291 CA C . . RSPOS=89720817;dbSNPBuildID=133;SSR=0;SAO=0;VP=050060001201000002100200;GENEINFO=PTEN:5728;WGT=1;VC=DIV;PM;NSF;REF;OTHERKG;LSD;CLNALLE=1;CLNHGVS=NC_000010.10:g.89720817delA;CLNSRC=.;CLNORIGIN=2;CLNSRCID=.;CLNSIG=255;CLNDSDB=.;CLNDSDBID=.;CLNDBN=.;CLNACC=. +10 89720852 rs121909231 C T . . RSPOS=89720852;dbSNPBuildID=133;SSR=0;SAO=3;VP=050260000601000002110120;GENEINFO=PTEN:5728;WGT=1;VC=SNV;PM;S3D;NSN;REF;OTHERKG;LSD;OM;CLNALLE=1;CLNHGVS=NC_000010.10:g.89720852C>T;CLNSRC=OMIM Allelic Variant;CLNORIGIN=1;CLNSRCID=601728.0021;CLNSIG=5|5|5;CLNDSDB=GeneReviews:NCBI:OMIM:Orphanet|GeneReviews:NCBI:OMIM:Orphanet:Orphanet:SNOMED CT|NCBI;CLNDSDBID=NBK1488:C0265326:153480:109|NBK1488:C0018553:158350:201:65285:58037000|C1866398;CLNDBN=Bannayan-Riley-Ruvalcaba syndrome|Cowden disease|Proteus-like syndrome;CLNACC=RCV000008279.1|RCV000008280.1|RCV000008281.1 +10 123258034 rs121913476 A T . . RSPOS=123258034;RV;dbSNPBuildID=133;SSR=0;SAO=3;VP=050260000a01000002100120;GENEINFO=FGFR2:2263;WGT=1;VC=SNV;PM;S3D;NSM;REF;OTHERKG;LSD;CLNALLE=1;CLNHGVS=NC_000010.10:g.123258034A>T;CLNSRC=.;CLNORIGIN=2;CLNSRCID=.;CLNSIG=255;CLNDSDB=.;CLNDSDBID=.;CLNDBN=.;CLNACC=. +10 123258105 rs121918507 T C . . RSPOS=123258105;RV;dbSNPBuildID=133;SSR=0;SAO=1;VP=050260000a01000002110100;GENEINFO=FGFR2:2263;WGT=1;VC=SNV;PM;S3D;NSM;REF;OTHERKG;LSD;OM;CLNALLE=1;CLNHGVS=NC_000010.10:g.123258105T>C;CLNSRC=OMIM Allelic Variant;CLNORIGIN=1;CLNSRCID=176943.0034;CLNSIG=5|5;CLNDSDB=GeneReviews:NCBI:OMIM:Orphanet:SNOMED CT|NCBI:OMIM:Orphanet;CLNDSDBID=NBK1455:C0010273:123500:207:28861008|C1865070:609579:168624;CLNDBN=Crouzon syndrome|Scaphocephaly\x2c maxillary retrusion\x2c and mental retardation;CLNACC=RCV000014220.1|RCV000014221.1 +10 123274774 rs121913474 A G . . RSPOS=123274774;RV;dbSNPBuildID=133;SSR=0;SAO=3;VP=050060080a01000002100120;GENEINFO=FGFR2:2263;WGT=1;VC=SNV;PM;NSM;REF;INT;OTHERKG;LSD;CLNALLE=1;CLNHGVS=NC_000010.10:g.123274774A>G;CLNSRC=.;CLNORIGIN=2;CLNSRCID=.;CLNSIG=255;CLNDSDB=.;CLNDSDBID=.;CLNDBN=.;CLNACC=. +10 123274794 rs121913478 T C . . RSPOS=123274794;RV;dbSNPBuildID=133;SSR=0;SAO=3;VP=050060080a01000002110120;GENEINFO=FGFR2:2263;WGT=1;VC=SNV;PM;NSM;REF;INT;OTHERKG;LSD;OM;CLNALLE=1;CLNHGVS=NC_000010.10:g.123274794T>C;CLNSRC=OMIM Allelic Variant;CLNORIGIN=2;CLNSRCID=176943.0015;CLNSIG=5|255;CLNDSDB=GeneReviews:NCBI:OMIM:Orphanet|.;CLNDSDBID=NBK1455:C1852406:123790:1555|.;CLNDBN=Cutis Gyrata syndrome of Beare and Stevenson|Endometrial cancer\x2c somatic;CLNACC=RCV000014198.1|RCV000014199.1 +10 123274803 rs121913477 G C . . RSPOS=123274803;RV;dbSNPBuildID=133;SSR=0;SAO=3;VP=050060080a01000002110120;GENEINFO=FGFR2:2263;WGT=1;VC=SNV;PM;NSM;REF;INT;OTHERKG;LSD;OM;CLNALLE=1;CLNHGVS=NC_000010.10:g.123274803G>C;CLNSRC=OMIM Allelic Variant;CLNORIGIN=1;CLNSRCID=176943.0016;CLNSIG=5;CLNDSDB=GeneReviews:NCBI:OMIM:Orphanet;CLNDSDBID=NBK1455:C1852406:123790:1555;CLNDBN=Cutis Gyrata syndrome of Beare and Stevenson;CLNACC=RCV000014200.1 +10 123279503 rs121913475 T C . . RSPOS=123279503;RV;dbSNPBuildID=133;SSR=0;SAO=3;VP=050060080a01000002100120;GENEINFO=FGFR2:2263;WGT=1;VC=SNV;PM;NSM;REF;INT;OTHERKG;LSD;CLNALLE=1;CLNHGVS=NC_000010.10:g.123279503T>C;CLNSRC=.;CLNORIGIN=2;CLNSRCID=.;CLNSIG=255;CLNDSDB=.;CLNDSDBID=.;CLNDBN=.;CLNACC=. +10 123279558 rs121918500 T C . . RSPOS=123279558;RV;dbSNPBuildID=133;SSR=0;SAO=1;VP=050060080a01000002110100;GENEINFO=FGFR2:2263;WGT=1;VC=SNV;PM;NSM;REF;INT;OTHERKG;LSD;OM;CLNALLE=1;CLNHGVS=NC_000010.10:g.123279558T>C;CLNSRC=OMIM Allelic Variant;CLNORIGIN=1;CLNSRCID=176943.0020;CLNSIG=5;CLNDSDB=GeneReviews:NCBI:OMIM:Orphanet:SNOMED CT;CLNDSDBID=NBK1455:C0010273:123500:207:28861008;CLNDBN=Crouzon syndrome;CLNACC=RCV000014204.1 +10 123279562 rs121918499 C A,G . . RSPOS=123279562;RV;dbSNPBuildID=133;SSR=0;SAO=1;VP=050060080a01000002110100;GENEINFO=FGFR2:2263;WGT=1;VC=SNV;PM;NSM;REF;INT;OTHERKG;LSD;OM;CLNALLE=1,2;CLNHGVS=NC_000010.10:g.123279562C>A,NC_000010.10:g.123279562C>G;CLNSRC=.,OMIM Allelic Variant;CLNORIGIN=.,1;CLNSRCID=.,176943.0019;CLNSIG=5,5;CLNDSDB=.,GeneReviews:NCBI:OMIM:OMIM:Orphanet;CLNDSDBID=.,NBK1455:C1863356:101600:C1863356:710;CLNDBN=.,Pfeiffer syndrome;CLNACC=.,RCV000014203.1 +10 123279564 rs121918501 A C,G . . RSPOS=123279564;RV;dbSNPBuildID=133;SSR=0;SAO=1;VP=050060080a01000002110100;GENEINFO=FGFR2:2263;WGT=1;VC=SNV;PM;NSM;REF;INT;OTHERKG;LSD;OM;CLNALLE=1,2;CLNHGVS=NC_000010.10:g.123279564A>C,NC_000010.10:g.123279564A>G;CLNSRC=OMIM Allelic Variant,OMIM Allelic Variant;CLNORIGIN=1,1;CLNSRCID=176943.0022,176943.0021;CLNSIG=5,5;CLNDSDB=GeneReviews:NCBI:OMIM:Orphanet:SNOMED CT,GeneReviews:NCBI:OMIM:Orphanet:SNOMED CT;CLNDSDBID=NBK1455:C0010273:123500:207:28861008,NBK1455:C0010273:123500:207:28861008;CLNDBN=Crouzon syndrome,Crouzon syndrome;CLNACC=RCV000014206.1,RCV000014205.1 +10 123279566 rs121918497 T G . . RSPOS=123279566;RV;dbSNPBuildID=133;SSR=0;SAO=1;VP=050060080a01000002110100;GENEINFO=FGFR2:2263;WGT=1;VC=SNV;PM;NSM;REF;INT;OTHERKG;LSD;OM;CLNALLE=1;CLNHGVS=NC_000010.10:g.123279566T>G;CLNSRC=OMIM Allelic Variant;CLNORIGIN=1;CLNSRCID=176943.0014;CLNSIG=5|5;CLNDSDB=GeneReviews:NCBI:OMIM:Orphanet:SNOMED CT|GeneReviews:NCBI:OMIM:Orphanet;CLNDSDBID=NBK1455:C0010273:123500:207:28861008|NBK1455:C0795998:123150:1540;CLNDBN=Crouzon syndrome|Jackson-Weiss syndrome;CLNACC=RCV000014196.1|RCV000014197.1 +10 123279612 rs121918503 CGTC C . . RSPOS=123279613;RV;dbSNPBuildID=133;SSR=0;SAO=0;VP=050060080001000002110200;GENEINFO=FGFR2:2263;WGT=1;VC=DIV;PM;INT;OTHERKG;LSD;OM;CLNALLE=1;CLNHGVS=NC_000010.10:g.123279613_123279615delGTC;CLNSRC=OMIM Allelic Variant;CLNORIGIN=1;CLNSRCID=176943.0027;CLNSIG=5;CLNDSDB=GeneReviews:NCBI:OMIM:OMIM:Orphanet;CLNDSDBID=NBK1455:C1863356:101600:C1863356:710;CLNDBN=Pfeiffer syndrome;CLNACC=RCV000014211.1 +10 123279633 rs121918505 A G . . RSPOS=123279633;RV;dbSNPBuildID=133;SSR=0;SAO=1;VP=050060080a01000002110100;GENEINFO=FGFR2:2263;WGT=1;VC=SNV;PM;NSM;REF;INT;OTHERKG;LSD;OM;CLNALLE=1;CLNHGVS=NC_000010.10:g.123279633A>G;CLNSRC=OMIM Allelic Variant;CLNORIGIN=1;CLNSRCID=176943.0029;CLNSIG=5|255;CLNDSDB=GeneReviews:NCBI:OMIM:OMIM:Orphanet|.;CLNDSDBID=NBK1455:C1863356:101600:C1863356:710|.;CLNDBN=Pfeiffer syndrome|Gastric cancer\x2c somatic;CLNACC=RCV000014213.1|RCV000014214.1 +10 123279674 rs77543610 G C . . RSPOS=123279674;dbSNPBuildID=131;SSR=0;SAO=1;VP=050060080a01000402110100;GENEINFO=FGFR2:2263;WGT=1;VC=SNV;PM;NSM;REF;INT;HD;OTHERKG;LSD;OM;CLNALLE=1;CLNHGVS=NC_000010.10:g.123279674G>C;CLNSRC=OMIM Allelic Variant;CLNORIGIN=1;CLNSRCID=176943.0011;CLNSIG=5;CLNDSDB=GeneReviews:NCBI:OMIM:Orphanet:SNOMED CT;CLNDSDBID=NBK1455:C0001193:101200:87:205258009;CLNDBN=Apert syndrome;CLNACC=RCV000014193.1 +10 123279675 rs121918498 GCG GAA . . RSPOS=123279676;RV;dbSNPBuildID=133;SSR=0;SAO=1;VP=050060080a01000002110800;GENEINFO=FGFR2:2263;WGT=1;VC=MNV;PM;NSM;REF;INT;OTHERKG;LSD;OM;CLNALLE=1;CLNHGVS=NC_000010.10:g.123279676_123279677delCGinsAA;CLNSRC=OMIM Allelic Variant|OMIM Allelic Variant;CLNORIGIN=1;CLNSRCID=176943.0017|176943.0026;CLNSIG=5;CLNDSDB=GeneReviews:NCBI:OMIM:Orphanet:SNOMED CT;CLNDSDBID=NBK1455:C0001193:101200:87:205258009;CLNDBN=Apert syndrome;CLNACC=RCV000014201.1 +10 123279677 rs79184941 G C . . RSPOS=123279677;RV;dbSNPBuildID=131;SSR=0;SAO=3;VP=050060080a01000402110120;GENEINFO=FGFR2:2263;WGT=1;VC=SNV;PM;NSM;REF;INT;HD;OTHERKG;LSD;OM;CLNALLE=1;CLNHGVS=NC_000010.10:g.123279677G>C;CLNSRC=OMIM Allelic Variant;CLNORIGIN=2;CLNSRCID=176943.0010;CLNSIG=5|255;CLNDSDB=GeneReviews:NCBI:OMIM:Orphanet:SNOMED CT|.;CLNDSDBID=NBK1455:C0001193:101200:87:205258009|.;CLNDBN=Apert syndrome|Endometrial cancer\x2c somatic;CLNACC=RCV000014191.1|RCV000014192.1 +11 533869 rs121917756 C T . . RSPOS=533869;RV;dbSNPBuildID=133;SSR=0;SAO=1;VP=050260000a01000002110100;GENEINFO=HRAS:3265;WGT=1;VC=SNV;PM;S3D;NSM;REF;OTHERKG;LSD;OM;CLNALLE=1;CLNHGVS=NC_000011.9:g.533869C>T;CLNSRC=OMIM Allelic Variant;CLNORIGIN=1;CLNSRCID=190020.0009;CLNSIG=5;CLNDSDB=NCBI;CLNDSDBID=C1968782;CLNDBN=Myopathy\x2c congenital\x2c with excess of muscle spindles;CLNACC=RCV000013442.1 +11 533873 rs121913496 C G . . RSPOS=533873;RV;dbSNPBuildID=133;SSR=0;SAO=3;VP=050260000a01000002100120;GENEINFO=HRAS:3265;WGT=1;VC=SNV;PM;S3D;NSM;REF;OTHERKG;LSD;CLNALLE=1;CLNHGVS=NC_000011.9:g.533873C>G;CLNSRC=.;CLNORIGIN=2;CLNSRCID=.;CLNSIG=255;CLNDSDB=.;CLNDSDBID=.;CLNDBN=.;CLNACC=. +11 533874 rs121913233 T A,C,G . . RSPOS=533874;RV;dbSNPBuildID=133;SSR=0;SAO=3;VP=050260000a01000002100124;GENEINFO=HRAS:3265;WGT=1;VC=SNV;PM;S3D;NSM;REF;OTHERKG;LSD;NOV;CLNALLE=1,2,3;CLNHGVS=NC_000011.9:g.533874T>A,NC_000011.9:g.533874T>C,NC_000011.9:g.533874T>G;CLNSRC=.,.,.;CLNORIGIN=2,2,2;CLNSRCID=.,.,.;CLNSIG=255,255,255;CLNDSDB=.,.,.;CLNDSDBID=.,.,.;CLNDBN=.,.,.;CLNACC=.,.,. +11 533875 rs28933406 G T . . RSPOS=533875;RV;dbSNPBuildID=133;SSR=0;SAO=3;VP=050260000a01000002110120;GENEINFO=HRAS:3265;WGT=1;VC=SNV;PM;S3D;NSM;REF;OTHERKG;LSD;OM;CLNALLE=1;CLNHGVS=NC_000011.9:g.533875G>T;CLNSRC=OMIM Allelic Variant;CLNORIGIN=1;CLNSRCID=190020.0002;CLNSIG=255|255;CLNDSDB=.|.;CLNDSDBID=.|.;CLNDBN=Thyroid carcinoma\x2c follicular\x2c somatic|Spermatocytic seminoma\x2c somatic;CLNACC=RCV000013434.1|RCV000022795.1 +11 533883 rs121917758 G A . . RSPOS=533883;RV;dbSNPBuildID=133;SSR=0;SAO=1;VP=050260000a01000002110100;GENEINFO=HRAS:3265;WGT=1;VC=SNV;PM;S3D;NSM;REF;OTHERKG;LSD;OM;CLNALLE=1;CLNHGVS=NC_000011.9:g.533883G>A;CLNSRC=OMIM Allelic Variant;CLNORIGIN=1;CLNSRCID=190020.0011;CLNSIG=5;CLNDSDB=GeneReviews:NCBI:OMIM:Orphanet:SNOMED CT;CLNDSDBID=NBK1507:C0587248:218040:3071:309776008;CLNDBN=Costello syndrome;CLNACC=RCV000013444.1 +11 534259 rs121917757 G T . . RSPOS=534259;RV;dbSNPBuildID=133;SSR=0;SAO=1;VP=050260000a01000002110100;GENEINFO=HRAS:3265;WGT=1;VC=SNV;PM;S3D;NSM;REF;OTHERKG;LSD;OM;CLNALLE=1;CLNHGVS=NC_000011.9:g.534259G>T;CLNSRC=OMIM Allelic Variant;CLNORIGIN=1;CLNSRCID=190020.0010;CLNSIG=5;CLNDSDB=NCBI;CLNDSDBID=C1968782;CLNDBN=Myopathy\x2c congenital\x2c with excess of muscle spindles;CLNACC=RCV000013443.1 +11 534285 rs104894226 C A,T . . RSPOS=534285;RV;dbSNPBuildID=133;SSR=0;SAO=3;VP=050260000a01000002110120;GENEINFO=HRAS:3265;WGT=1;VC=SNV;PM;S3D;NSM;REF;OTHERKG;LSD;OM;CLNALLE=1,2;CLNHGVS=NC_000011.9:g.534285C>A,NC_000011.9:g.534285C>T;CLNSRC=.,OMIM Allelic Variant;CLNORIGIN=2,1;CLNSRCID=.,190020.0005;CLNSIG=255,5;CLNDSDB=.,GeneReviews:NCBI:OMIM:Orphanet:SNOMED CT;CLNDSDBID=.,NBK1507:C0587248:218040:3071:309776008;CLNDBN=.,Costello syndrome;CLNACC=.,RCV000013438.1 +11 534286 rs104894228 C A,G,T . . RSPOS=534286;RV;dbSNPBuildID=133;SSR=0;SAO=3;VP=050260000a01000002110124;GENEINFO=HRAS:3265;WGT=1;VC=SNV;PM;S3D;NSM;REF;OTHERKG;LSD;OM;NOV;CLNALLE=1,2,3;CLNHGVS=NC_000011.9:g.534286C>A,NC_000011.9:g.534286C>G,NC_000011.9:g.534286C>T;CLNSRC=OMIM Allelic Variant,.,.;CLNORIGIN=2,2,2;CLNSRCID=190020.0007,.,.;CLNSIG=5,255,255;CLNDSDB=GeneReviews:NCBI:OMIM:Orphanet:SNOMED CT,.,.;CLNDSDBID=NBK1507:C0587248:218040:3071:309776008,.,.;CLNDBN=Costello syndrome,.,.;CLNACC=RCV000013440.1,.,. +11 534288 rs104894230 C A,G,T . . RSPOS=534288;RV;dbSNPBuildID=133;SSR=0;SAO=3;VP=050260000a01000002110124;GENEINFO=HRAS:3265;WGT=1;VC=SNV;PM;S3D;NSM;REF;OTHERKG;LSD;OM;NOV;CLNALLE=1,2,3;CLNHGVS=NC_000011.9:g.534288C>A,NC_000011.9:g.534288C>G,NC_000011.9:g.534288C>T;CLNSRC=OMIM Allelic Variant,OMIM Allelic Variant,OMIM Allelic Variant;CLNORIGIN=1,1,1;CLNSRCID=190020.0001,190020.0004,190020.0013;CLNSIG=255|5|5,5,5|1;CLNDSDB=.|GeneReviews:NCBI:OMIM:Orphanet:SNOMED CT|NCBI,GeneReviews:NCBI:OMIM:Orphanet:SNOMED CT,.|.;CLNDSDBID=.|NBK1507:C0587248:218040:3071:309776008|C1968782,NBK1507:C0587248:218040:3071:309776008,.|.;CLNDBN=Bladder cancer\x2c somatic|Costello syndrome|Myopathy\x2c congenital\x2c with excess of muscle spindles,Costello syndrome,Costello syndrome\x2c severe|NEVUS SEBACEOUS\x2c SOMATIC;CLNACC=RCV000013431.1|RCV000013432.1|RCV000013433.1,RCV000013437.1,RCV000013446.1|RCV000029210.1 +11 534289 rs104894229 C A,G,T . . RSPOS=534289;RV;dbSNPBuildID=133;SSR=0;SAO=3;VP=050260000a01000002110124;GENEINFO=HRAS:3265;WGT=1;VC=SNV;PM;S3D;NSM;REF;OTHERKG;LSD;OM;NOV;CLNALLE=1,2,3;CLNHGVS=NC_000011.9:g.534289C>A,NC_000011.9:g.534289C>G,NC_000011.9:g.534289C>T;CLNSRC=OMIM Allelic Variant,.,OMIM Allelic Variant;CLNORIGIN=1,2,1;CLNSRCID=190020.0014,.,190020.0003;CLNSIG=5|1,255,5|5|255|1;CLNDSDB=GeneReviews:NCBI:OMIM:Orphanet:SNOMED CT|.,.,GeneReviews:NCBI:OMIM:Orphanet:SNOMED CT|NCBI|.|.;CLNDSDBID=NBK1507:C0587248:218040:3071:309776008|.,.,NBK1507:C0587248:218040:3071:309776008|C1968782|.|.;CLNDBN=Costello syndrome|NEVUS SEBACEOUS\x2c SOMATIC,.,Costello syndrome|Myopathy\x2c congenital\x2c with excess of muscle spindles|EPIDERMAL NEVUS WITH UROTHELIAL CANCER\x2c SOMATIC|NEVUS SEBACEOUS\x2c SOMATIC;CLNACC=RCV000013447.1|RCV000029211.1,.,RCV000013435.1|RCV000013436.1|RCV000022796.1|RCV000029209.1 +11 108170479 rs121434217 G C . . RSPOS=108170479;dbSNPBuildID=132;SSR=0;SAO=1;VP=050060000a01000002110100;GENEINFO=ATM:472;WGT=1;VC=SNV;PM;NSM;REF;OTHERKG;LSD;OM;CLNALLE=1;CLNHGVS=NC_000011.9:g.108170479G>C;CLNSRC=OMIM Allelic Variant;CLNORIGIN=1;CLNSRCID=607585.0009;CLNSIG=255;CLNDSDB=.;CLNDSDBID=.;CLNDBN=T-cell prolymphocytic leukemia\x2c somatic;CLNACC=RCV000003165.1 +11 108172506 rs121434223 C G . . RSPOS=108172506;dbSNPBuildID=132;SSR=0;SAO=1;VP=050060000601000002110100;GENEINFO=ATM:472;WGT=1;VC=SNV;PM;NSN;REF;OTHERKG;LSD;OM;CLNALLE=1;CLNHGVS=NC_000011.9:g.108172506C>G;CLNSRC=OMIM Allelic Variant;CLNORIGIN=1;CLNSRCID=607585.0025;CLNSIG=255;CLNDSDB=.;CLNDSDBID=.;CLNDBN=T-cell prolymphocytic leukemia\x2c somatic;CLNACC=RCV000003183.1 +11 108200960 rs121434220 C T . . RSPOS=108200960;dbSNPBuildID=132;SSR=0;SAO=1;VP=050060000601000002110100;GENEINFO=ATM:472;WGT=1;VC=SNV;PM;NSN;REF;OTHERKG;LSD;OM;CLNALLE=1;CLNHGVS=NC_000011.9:g.108200960C>T;CLNSRC=OMIM Allelic Variant;CLNORIGIN=1;CLNSRCID=607585.0019;CLNSIG=5;CLNDSDB=GeneReviews:NCBI:OMIM:Orphanet:SNOMED CT;CLNDSDBID=NBK26468:C0004135:208900:100:68504005;CLNDBN=Ataxia-telangiectasia syndrome;CLNACC=RCV000003175.1 +11 108204652 rs121434218 T C . . RSPOS=108204652;dbSNPBuildID=132;SSR=0;SAO=1;VP=050060000a01000002110100;GENEINFO=ATM:472;WGT=1;VC=SNV;PM;NSM;REF;OTHERKG;LSD;OM;CLNALLE=1;CLNHGVS=NC_000011.9:g.108204652T>C;CLNSRC=OMIM Allelic Variant;CLNORIGIN=1;CLNSRCID=607585.0011;CLNSIG=5;CLNDSDB=.;CLNDSDBID=.;CLNDBN=Ataxia-telangiectasia without immunodeficiency;CLNACC=RCV000003167.1 +11 108236203 rs121434219 C T . . RSPOS=108236203;dbSNPBuildID=132;SSR=0;SAO=1;VP=050060000601000002110100;GENEINFO=ATM:472;WGT=1;VC=SNV;PM;NSN;REF;OTHERKG;LSD;OM;CLNALLE=1;CLNHGVS=NC_000011.9:g.108236203C>T;CLNSRC=OMIM Allelic Variant;CLNORIGIN=1;CLNSRCID=607585.0012;CLNSIG=5;CLNDSDB=.;CLNDSDBID=.;CLNDBN=Ataxia-telangiectasia without immunodeficiency;CLNACC=RCV000003168.1 +12 25378562 rs121913527 C T . . RSPOS=25378562;RV;dbSNPBuildID=133;SSR=0;SAO=3;VP=050260000a01000002100120;GENEINFO=KRAS:3845;WGT=1;VC=SNV;PM;S3D;NSM;REF;OTHERKG;LSD;CLNALLE=1;CLNHGVS=NC_000012.11:g.25378562C>T;CLNSRC=.;CLNORIGIN=2;CLNSRCID=.;CLNSIG=255;CLNDSDB=.;CLNDSDBID=.;CLNDBN=.;CLNACC=. +12 25378651 rs202247812 T C . . RSPOS=25378651;RV;dbSNPBuildID=136;SSR=0;SAO=1;VP=050068000a05000002110100;GENEINFO=KRAS:3845;WGT=1;VC=SNV;PM;PMC;NSM;REF;ASP;OTHERKG;LSD;OM;CLNALLE=1;CLNHGVS=NC_000012.11:g.25378651T>C;CLNSRC=.;CLNORIGIN=1;CLNSRCID=.;CLNSIG=1;CLNDSDB=.;CLNDSDBID=.;CLNDBN=.;CLNACC=. +12 25380275 rs17851045 T A,G . . RSPOS=25380275;RV;dbSNPBuildID=123;SSR=0;SAO=3;VP=050260000a01000102100120;GENEINFO=KRAS:3845;WGT=1;VC=SNV;PM;S3D;NSM;REF;GNO;OTHERKG;LSD;CLNALLE=2;CLNHGVS=NC_000012.11:g.25380275T>G;CLNSRC=.;CLNORIGIN=2;CLNSRCID=.;CLNSIG=255;CLNDSDB=.;CLNDSDBID=.;CLNDBN=.;CLNACC=. +12 25380276 rs121913240 T A,C,G . . RSPOS=25380276;RV;dbSNPBuildID=133;SSR=0;SAO=3;VP=050260000a01000002100124;GENEINFO=KRAS:3845;WGT=1;VC=SNV;PM;S3D;NSM;REF;OTHERKG;LSD;NOV;CLNALLE=1,2,3;CLNHGVS=NC_000012.11:g.25380276T>A,NC_000012.11:g.25380276T>C,NC_000012.11:g.25380276T>G;CLNSRC=.,.,.;CLNORIGIN=2,2,2;CLNSRCID=.,.,.;CLNSIG=255,255,255;CLNDSDB=.,.,.;CLNDSDBID=.,.,.;CLNDBN=.,.,.;CLNACC=.,.,. +12 25380277 rs121913238 G C,T . . RSPOS=25380277;RV;dbSNPBuildID=133;SSR=0;SAO=3;VP=050260000a01000002100120;GENEINFO=KRAS:3845;WGT=1;VC=SNV;PM;S3D;NSM;REF;OTHERKG;LSD;CLNALLE=1,2;CLNHGVS=NC_000012.11:g.25380277G>C,NC_000012.11:g.25380277G>T;CLNSRC=.,.;CLNORIGIN=2,2;CLNSRCID=.,.;CLNSIG=255,255;CLNDSDB=.,.;CLNDSDBID=.,.;CLNDBN=.,.;CLNACC=.,. +12 25380280 rs104894359 C G,T . . RSPOS=25380280;RV;dbSNPBuildID=133;SSR=0;SAO=1;VP=050260000a01000002110100;GENEINFO=KRAS:3845;WGT=1;VC=SNV;PM;S3D;NSM;REF;OTHERKG;LSD;OM;CLNALLE=1,2;CLNHGVS=NC_000012.11:g.25380280C>G,NC_000012.11:g.25380280C>T;CLNSRC=OMIM Allelic Variant,OMIM Allelic Variant;CLNORIGIN=1,1;CLNSRCID=190070.0009,190070.0020;CLNSIG=5,5;CLNDSDB=GeneReviews:NCBI:OMIM:Orphanet:SNOMED CT,GeneReviews:NCBI:OMIM:Orphanet;CLNDSDBID=NBK1186:C1275081:115150:1340:403770008,NBK1124:C1860991:609942:648;CLNDBN=Cardio-facio-cutaneous syndrome,Noonan syndrome 3;CLNACC=RCV000013416.1,RCV000013428.1 +12 25380282 rs104886029 G A . . RSPOS=25380282;RV;dbSNPBuildID=132;SSR=0;SAO=3;VP=050260000a01000002110120;GENEINFO=KRAS:3845;WGT=1;VC=SNV;PM;S3D;NSM;REF;OTHERKG;LSD;OM;CLNALLE=1;CLNHGVS=NC_000012.11:g.25380282G>A;CLNSRC=.;CLNORIGIN=2;CLNSRCID=.;CLNSIG=255;CLNDSDB=.;CLNDSDBID=.;CLNDBN=.;CLNACC=. +12 25380283 rs121913528 C T . . RSPOS=25380283;RV;dbSNPBuildID=133;SSR=0;SAO=3;VP=050260000a01000002110120;GENEINFO=KRAS:3845;WGT=1;VC=SNV;PM;S3D;NSM;REF;OTHERKG;LSD;OM;CLNALLE=1;CLNHGVS=NC_000012.11:g.25380283C>T;CLNSRC=OMIM Allelic Variant;CLNORIGIN=2;CLNSRCID=190070.0004;CLNSIG=255;CLNDSDB=.;CLNDSDBID=.;CLNDBN=Bladder cancer\x2c transitional cell\x2c somatic;CLNACC=RCV000013410.1 +12 25380285 rs104894364 G A . . RSPOS=25380285;RV;dbSNPBuildID=133;SSR=0;SAO=1;VP=050260000a01000002110100;GENEINFO=KRAS:3845;WGT=1;VC=SNV;PM;S3D;NSM;REF;OTHERKG;LSD;OM;CLNALLE=1;CLNHGVS=NC_000012.11:g.25380285G>A;CLNSRC=OMIM Allelic Variant;CLNORIGIN=1;CLNSRCID=190070.0011;CLNSIG=5;CLNDSDB=GeneReviews:NCBI:OMIM:Orphanet;CLNDSDBID=NBK1124:C1860991:609942:648;CLNDBN=Noonan syndrome 3;CLNACC=RCV000013419.1 +12 25398255 rs121913236 G T . . RSPOS=25398255;RV;dbSNPBuildID=133;SSR=0;SAO=3;VP=050260000a01000002100120;GENEINFO=KRAS:3845;WGT=1;VC=SNV;PM;S3D;NSM;REF;OTHERKG;LSD;CLNALLE=1;CLNHGVS=NC_000012.11:g.25398255G>T;CLNSRC=.;CLNORIGIN=2;CLNSRCID=.;CLNSIG=255;CLNDSDB=.;CLNDSDBID=.;CLNDBN=.;CLNACC=. +12 25398262 rs121913538 C A . . RSPOS=25398262;RV;dbSNPBuildID=133;SSR=0;SAO=3;VP=050260000a01000002100120;GENEINFO=KRAS:3845;WGT=1;VC=SNV;PM;S3D;NSM;REF;OTHERKG;LSD;CLNALLE=1;CLNHGVS=NC_000012.11:g.25398262C>A;CLNSRC=.;CLNORIGIN=2;CLNSRCID=.;CLNSIG=255;CLNDSDB=.;CLNDSDBID=.;CLNDBN=.;CLNACC=. +12 25398279 rs104894365 C T . . RSPOS=25398279;RV;dbSNPBuildID=133;SSR=0;SAO=3;VP=050260000a01000002110120;GENEINFO=KRAS:3845;WGT=1;VC=SNV;PM;S3D;NSM;REF;OTHERKG;LSD;OM;CLNALLE=1;CLNHGVS=NC_000012.11:g.25398279C>T;CLNSRC=OMIM Allelic Variant;CLNORIGIN=1;CLNSRCID=190070.0012;CLNSIG=5;CLNDSDB=GeneReviews:NCBI:OMIM:Orphanet;CLNDSDBID=NBK1124:C1860991:609942:648;CLNDBN=Noonan syndrome 3;CLNACC=RCV000013420.1 +12 25398281 rs112445441 C A,G,T . . RSPOS=25398281;dbSNPBuildID=132;SSR=0;SAO=3;VP=050260000a01000002110124;GENEINFO=KRAS:3845;WGT=1;VC=SNV;PM;S3D;NSM;REF;OTHERKG;LSD;OM;NOV;CLNALLE=1,2,3;CLNHGVS=NC_000012.11:g.25398281C>A,NC_000012.11:g.25398281C>G,NC_000012.11:g.25398281C>T;CLNSRC=.,.,OMIM Allelic Variant;CLNORIGIN=2,2,2;CLNSRCID=.,.,190070.0003;CLNSIG=255,255,255;CLNDSDB=.,.,.;CLNDSDBID=.,.,.;CLNDBN=.,.,Breast adenocarcinoma\x2c somatic;CLNACC=.,.,RCV000013409.1 +12 25398282 rs121913535 C A,G,T . . RSPOS=25398282;RV;dbSNPBuildID=133;SSR=0;SAO=3;VP=050260000a01000002110124;GENEINFO=KRAS:3845;WGT=1;VC=SNV;PM;S3D;NSM;REF;OTHERKG;LSD;OM;NOV;CLNALLE=1,2,3;CLNHGVS=NC_000012.11:g.25398282C>A,NC_000012.11:g.25398282C>G,NC_000012.11:g.25398282C>T;CLNSRC=.,OMIM Allelic Variant,.;CLNORIGIN=2,1,2;CLNSRCID=.,190070.0016,.;CLNSIG=255,255,255;CLNDSDB=.,.,.;CLNDSDBID=.,.,.;CLNDBN=.,Pilocytic astrocytoma\x2c somatic,.;CLNACC=.,RCV000013424.1,. +12 25398284 rs121913529 C A,G,T . . RSPOS=25398284;RV;dbSNPBuildID=133;SSR=0;SAO=3;VP=050260000a01000002110124;GENEINFO=KRAS:3845;WGT=1;VC=SNV;PM;S3D;NSM;REF;OTHERKG;LSD;OM;NOV;CLNALLE=1,2,3;CLNHGVS=NC_000012.11:g.25398284C>A,NC_000012.11:g.25398284C>G,NC_000012.11:g.25398284C>T;CLNSRC=OMIM Allelic Variant,.,OMIM Allelic Variant;CLNORIGIN=1,2,2;CLNSRCID=190070.0006,.,190070.0005;CLNSIG=255|1,255,255|255|255|1|1;CLNDSDB=.|.,.,.|.|.|.|.;CLNDSDBID=.|.,.,.|.|.|.|.;CLNDBN=Pancreatic carcinoma\x2c somatic|NEVUS SEBACEOUS\x2c SOMATIC,.,Pancreatic carcinoma\x2c somatic|Gastric cancer\x2c somatic|Nevus\x2c epidermal\x2c somatic|NEVUS SEBACEOUS\x2c SOMATIC|SCHIMMELPENNING-FEUERSTEIN-MIMS SYNDROME\x2c SOMATIC MOSAIC;CLNACC=RCV000013413.1|RCV000029216.1,.,RCV000013411.1|RCV000013412.1|RCV000022799.1|RCV000029214.1|RCV000029215.1 +12 25398285 rs121913530 C A,G,T . . RSPOS=25398285;RV;dbSNPBuildID=133;SSR=0;SAO=3;VP=050260000a01000002110124;GENEINFO=KRAS:3845;WGT=1;VC=SNV;PM;S3D;NSM;REF;OTHERKG;LSD;OM;NOV;CLNALLE=1,2,3;CLNHGVS=NC_000012.11:g.25398285C>A,NC_000012.11:g.25398285C>G,NC_000012.11:g.25398285C>T;CLNSRC=OMIM Allelic Variant,OMIM Allelic Variant,OMIM Allelic Variant;CLNORIGIN=1,2,1;CLNSRCID=190070.0001,190070.0002,190070.0007;CLNSIG=255,255|255,255;CLNDSDB=.,.|.,.;CLNDSDBID=.,.|.,.;CLNDBN=Lung cancer\x2c somatic,Lung cancer\x2c squamous cell\x2c somatic|Bladder cancer\x2c somatic,Gastric cancer\x2c somatic;CLNACC=RCV000013406.1,RCV000013407.1|RCV000013408.1,RCV000013414.1 +12 25398304 rs104894361 T A . . RSPOS=25398304;RV;dbSNPBuildID=133;SSR=0;SAO=1;VP=050260000a01000002110100;GENEINFO=KRAS:3845;WGT=1;VC=SNV;PM;S3D;NSM;REF;OTHERKG;LSD;OM;CLNALLE=1;CLNHGVS=NC_000012.11:g.25398304T>A;CLNSRC=OMIM Allelic Variant;CLNORIGIN=1;CLNSRCID=190070.0017;CLNSIG=5;CLNDSDB=GeneReviews:NCBI:OMIM:Orphanet:SNOMED CT;CLNDSDBID=NBK1186:C1275081:115150:1340:403770008;CLNDBN=Cardio-facio-cutaneous syndrome;CLNACC=RCV000013425.1 +12 25398306 rs193929331 T C . . RSPOS=25398306;RV;dbSNPBuildID=136;SSR=0;SAO=1;VP=050260000a01000002110100;GENEINFO=KRAS:3845;WGT=1;VC=SNV;PM;S3D;NSM;REF;OTHERKG;LSD;OM;CLNALLE=1;CLNHGVS=NC_000012.11:g.25398306T>C;CLNSRC=OMIM Allelic Variant;CLNORIGIN=1;CLNSRCID=190070.0019;CLNSIG=5;CLNDSDB=GeneReviews:NCBI:OMIM:Orphanet;CLNDSDBID=NBK1124:C1860991:609942:648;CLNDBN=Noonan syndrome 3;CLNACC=RCV000013427.1 +12 112888161 rs121918471 TGGT T . . RSPOS=112888162;dbSNPBuildID=133;SSR=0;SAO=0;VP=050060000001000002110200;GENEINFO=PTPN11:5781;WGT=1;VC=DIV;PM;OTHERKG;LSD;OM;CLNALLE=1;CLNHGVS=NC_000012.11:g.112888162_112888164delGGT;CLNSRC=GeneReviews|OMIM Allelic Variant;CLNORIGIN=1;CLNSRCID=NBK1124|176876.0024;CLNSIG=5|5;CLNDSDB=GeneReviews:NCBI:OMIM:Orphanet|GeneReviews:NCBI:OMIM:Orphanet;CLNDSDBID=NBK1124:C0041409:163950:648|NBK1124:C0041409:163950:648;CLNDBN=Noonan syndrome 1|Noonan syndrome 1;CLNACC=RCV000014274.1|RCV000014274.1 +12 112888162 rs80338836 GGTG G . . RSPOS=112888163;dbSNPBuildID=131;SSR=0;SAO=0;VP=050168000201000002110200;GENEINFO=PTPN11:5781;WGT=1;VC=DIV;PM;PMC;SLO;REF;OTHERKG;LSD;OM;CLNALLE=1;CLNHGVS=NC_000012.11:g.112888163_112888165delGTG;CLNSRC=GeneReviews|OMIM Allelic Variant;CLNORIGIN=0;CLNSRCID=NBK1124|176876.0024;CLNSIG=5|5;CLNDSDB=GeneReviews:NCBI:OMIM:Orphanet|GeneReviews:NCBI:OMIM:Orphanet;CLNDSDBID=NBK1124:C0041409:163950:648|NBK1124:C0041409:163950:648;CLNDBN=Noonan syndrome 1|Noonan syndrome 1;CLNACC=RCV000014274.1|RCV000014274.1 +12 112888166 rs121918461 A G . . RSPOS=112888166;dbSNPBuildID=133;SSR=0;SAO=1;VP=050260000a01000002110100;GENEINFO=PTPN11:5781;WGT=1;VC=SNV;PM;S3D;NSM;REF;OTHERKG;LSD;OM;CLNALLE=1;CLNHGVS=NC_000012.11:g.112888166A>G;CLNSRC=OMIM Allelic Variant;CLNORIGIN=1;CLNSRCID=176876.0010;CLNSIG=5;CLNDSDB=GeneReviews:NCBI:OMIM:Orphanet;CLNDSDBID=NBK1124:C0041409:163950:648;CLNDBN=Noonan syndrome 1;CLNACC=RCV000014258.1 +12 112888168 rs121918460 T G . . RSPOS=112888168;dbSNPBuildID=133;SSR=0;SAO=1;VP=050260000a01000002110100;GENEINFO=PTPN11:5781;WGT=1;VC=SNV;PM;S3D;NSM;REF;OTHERKG;LSD;OM;CLNALLE=1;CLNHGVS=NC_000012.11:g.112888168T>G;CLNSRC=OMIM Allelic Variant;CLNORIGIN=1;CLNSRCID=176876.0009;CLNSIG=5;CLNDSDB=GeneReviews:NCBI:OMIM:Orphanet;CLNDSDBID=NBK1124:C0041409:163950:648;CLNDBN=Noonan syndrome 1;CLNACC=RCV000014257.1 +12 112888172 rs121918459 A G . . RSPOS=112888172;dbSNPBuildID=133;SSR=0;SAO=1;VP=050260000a01000002110100;GENEINFO=PTPN11:5781;WGT=1;VC=SNV;PM;S3D;NSM;REF;OTHERKG;LSD;OM;CLNALLE=1;CLNHGVS=NC_000012.11:g.112888172A>G;CLNSRC=OMIM Allelic Variant;CLNORIGIN=1;CLNSRCID=176876.0008;CLNSIG=5;CLNDSDB=GeneReviews:NCBI:OMIM:Orphanet;CLNDSDBID=NBK1124:C0041409:163950:648;CLNDBN=Noonan syndrome 1;CLNACC=RCV000014261.1 +12 112888198 rs121918453 G T . . RSPOS=112888198;dbSNPBuildID=133;SSR=0;SAO=1;VP=050260000a01000002110100;GENEINFO=PTPN11:5781;WGT=1;VC=SNV;PM;S3D;NSM;REF;OTHERKG;LSD;OM;CLNALLE=1;CLNHGVS=NC_000012.11:g.112888198G>T;CLNSRC=OMIM Allelic Variant;CLNORIGIN=1;CLNSRCID=176876.0001;CLNSIG=5;CLNDSDB=GeneReviews:NCBI:OMIM:Orphanet;CLNDSDBID=NBK1124:C0041409:163950:648;CLNDBN=Noonan syndrome 1;CLNACC=RCV000014252.1 +12 112888199 rs121918454 C G . . RSPOS=112888199;dbSNPBuildID=133;SSR=0;SAO=1;VP=050260000a01000002110100;GENEINFO=PTPN11:5781;WGT=1;VC=SNV;PM;S3D;NSM;REF;OTHERKG;LSD;OM;CLNALLE=1;CLNHGVS=NC_000012.11:g.112888199C>G;CLNSRC=OMIM Allelic Variant;CLNORIGIN=1;CLNSRCID=176876.0002;CLNSIG=5;CLNDSDB=GeneReviews:NCBI:OMIM:Orphanet;CLNDSDBID=NBK1124:C0041409:163950:648;CLNDBN=Noonan syndrome 1;CLNACC=RCV000014253.1 +12 112888202 rs121918462 C T . . RSPOS=112888202;dbSNPBuildID=133;SSR=0;SAO=1;VP=050260000a01000002110100;GENEINFO=PTPN11:5781;WGT=1;VC=SNV;PM;S3D;NSM;REF;OTHERKG;LSD;OM;CLNALLE=1;CLNHGVS=NC_000012.11:g.112888202C>T;CLNSRC=OMIM Allelic Variant|OMIM Allelic Variant;CLNORIGIN=1;CLNSRCID=176876.0011|176876.0013;CLNSIG=5|5|5;CLNDSDB=GeneReviews:NCBI:OMIM:Orphanet|NCBI:OMIM:Orphanet|GeneReviews:NCBI:OMIM:SNOMED CT;CLNDSDBID=NBK1124:C0041409:163950:648|C0349639:607785:86834|NBK1124:C0028326:163950:205824006;CLNDBN=Noonan syndrome 1|Juvenile myelomonocytic leukemia|Noonan's syndrome;CLNACC=RCV000014262.1|RCV000030619.1|RCV000030619.1 +12 112888210 rs121918464 G A . . RSPOS=112888210;dbSNPBuildID=133;SSR=0;SAO=1;VP=050260000a01000002110100;GENEINFO=PTPN11:5781;WGT=1;VC=SNV;PM;S3D;NSM;REF;OTHERKG;LSD;OM;CLNALLE=1;CLNHGVS=NC_000012.11:g.112888210G>A;CLNSRC=OMIM Allelic Variant;CLNORIGIN=1;CLNSRCID=176876.0014;CLNSIG=255;CLNDSDB=NCBI:OMIM:Orphanet;CLNDSDBID=C0349639:607785:86834;CLNDBN=Juvenile myelomonocytic leukemia;CLNACC=RCV000014264.1 +12 112888211 rs121918465 A C,G,T . . RSPOS=112888211;dbSNPBuildID=133;SSR=0;SAO=1;VP=050260000a01000002110104;GENEINFO=PTPN11:5781;WGT=1;VC=SNV;PM;S3D;NSM;REF;OTHERKG;LSD;OM;NOV;CLNALLE=1,2,3;CLNHGVS=NC_000012.11:g.112888211A>C,NC_000012.11:g.112888211A>G,NC_000012.11:g.112888211A>T;CLNSRC=OMIM Allelic Variant,OMIM Allelic Variant,OMIM Allelic Variant;CLNORIGIN=1,1,1;CLNSRCID=176876.0017,176876.0016,176876.0015;CLNSIG=255,255,255;CLNDSDB=NCBI:OMIM:Orphanet,NCBI:OMIM:Orphanet,NCBI:OMIM:Orphanet;CLNDSDBID=C0349639:607785:86834,C0349639:607785:86834,C0349639:607785:86834;CLNDBN=Juvenile myelomonocytic leukemia,Juvenile myelomonocytic leukemia,Juvenile myelomonocytic leukemia;CLNACC=RCV000014267.1,RCV000014266.1,RCV000014265.1 +12 112888220 rs121918466 A G . . RSPOS=112888220;dbSNPBuildID=133;SSR=0;SAO=1;VP=050260000a01000002110100;GENEINFO=PTPN11:5781;WGT=1;VC=SNV;PM;S3D;NSM;REF;OTHERKG;LSD;OM;CLNALLE=1;CLNHGVS=NC_000012.11:g.112888220A>G;CLNSRC=OMIM Allelic Variant;CLNORIGIN=1;CLNSRCID=176876.0018;CLNSIG=5;CLNDSDB=GeneReviews:NCBI:OMIM:Orphanet;CLNDSDBID=NBK1124:C0041409:163950:648;CLNDBN=Noonan syndrome 1;CLNACC=RCV000014268.1 +12 112888239 rs61736914 C T . . RSPOS=112888239;GMAF=0.0188;dbSNPBuildID=129;SSR=0;SAO=1;VP=05026800030115011e100100;GENEINFO=PTPN11:5781;WGT=1;VC=SNV;PM;PMC;S3D;REF;SYN;VLD;G5;GNO;KGPhase1;KGPilot123;KGPROD;OTHERKG;LSD;CLNALLE=1;CLNHGVS=NC_000012.11:g.112888239C>T;CLNSRC=.;CLNORIGIN=1;CLNSRCID=.;CLNSIG=3;CLNDSDB=.;CLNDSDBID=.;CLNDBN=.;CLNACC=. +12 112926884 rs121918458 T A . . RSPOS=112926884;dbSNPBuildID=133;SSR=0;SAO=1;VP=050260000a01000002110100;GENEINFO=PTPN11:5781;WGT=1;VC=SNV;PM;S3D;NSM;REF;OTHERKG;LSD;OM;CLNALLE=1;CLNHGVS=NC_000012.11:g.112926884T>A;CLNSRC=OMIM Allelic Variant;CLNORIGIN=1;CLNSRCID=176876.0007;CLNSIG=5;CLNDSDB=GeneReviews:NCBI:OMIM:Orphanet;CLNDSDBID=NBK1124:C0041409:163950:648;CLNDBN=Noonan syndrome 1;CLNACC=RCV000014260.1 +12 112926909 rs121918470 A C,G . . RSPOS=112926909;dbSNPBuildID=133;SSR=0;SAO=1;VP=050260000a01000002110100;GENEINFO=PTPN11:5781;WGT=1;VC=SNV;PM;S3D;NSM;REF;OTHERKG;LSD;OM;CLNALLE=1,2;CLNHGVS=NC_000012.11:g.112926909A>C,NC_000012.11:g.112926909A>G;CLNSRC=OMIM Allelic Variant,OMIM Allelic Variant;CLNORIGIN=1,1;CLNSRCID=176876.0022,176876.0023;CLNSIG=5,5;CLNDSDB=GeneReviews:NCBI,GeneReviews:NCBI:OMIM:Orphanet;CLNDSDBID=NBK1383:C0175704,NBK1124:C0041409:163950:648;CLNDBN=LEOPARD syndrome,Noonan syndrome 1;CLNACC=RCV000014272.1,RCV000014273.1 +12 121431394 rs193922598 C T . . RSPOS=121431394;dbSNPBuildID=136;SSR=0;SAO=1;VP=050268000a01000002100100;GENEINFO=HNF1A:6927;WGT=1;VC=SNV;PM;PMC;S3D;NSM;REF;OTHERKG;LSD;CLNALLE=1;CLNHGVS=NC_000012.11:g.121431394C>T;CLNSRC=.;CLNORIGIN=1;CLNSRCID=.;CLNSIG=4;CLNDSDB=.;CLNDSDBID=.;CLNDBN=.;CLNACC=. +12 121431458 rs193922599 AGAA A . . RSPOS=121431462;dbSNPBuildID=136;SSR=0;SAO=1;VP=050060000201000002100200;GENEINFO=HNF1A:6927;WGT=1;VC=DIV;PM;REF;OTHERKG;LSD;CLNALLE=1;CLNHGVS=NC_000012.11:g.121431462_121431464delGAA;CLNSRC=.;CLNORIGIN=1;CLNSRCID=.;CLNSIG=4;CLNDSDB=.;CLNDSDBID=.;CLNDBN=.;CLNACC=. +12 121431466 rs193922600 C T . . RSPOS=121431466;dbSNPBuildID=136;SSR=0;SAO=1;VP=050260000a01000002100100;GENEINFO=HNF1A:6927;WGT=1;VC=SNV;PM;S3D;NSM;REF;OTHERKG;LSD;CLNALLE=1;CLNHGVS=NC_000012.11:g.121431466C>T;CLNSRC=.;CLNORIGIN=1;CLNSRCID=.;CLNSIG=4;CLNDSDB=.;CLNDSDBID=.;CLNDBN=.;CLNACC=. +12 121431523 rs193922601 C T . . RSPOS=121431523;dbSNPBuildID=136;SSR=0;SAO=1;VP=050060080001000002100100;GENEINFO=HNF1A:6927;WGT=1;VC=SNV;PM;INT;OTHERKG;LSD;CLNALLE=1;CLNHGVS=NC_000012.11:g.121431523C>T;CLNSRC=.;CLNORIGIN=1;CLNSRCID=.;CLNSIG=0;CLNDSDB=.;CLNDSDBID=.;CLNDBN=.;CLNACC=. +12 121432043 rs193922604 G T . . RSPOS=121432043;dbSNPBuildID=136;SSR=0;SAO=1;VP=050268000a01000002100100;GENEINFO=HNF1A:6927;WGT=1;VC=SNV;PM;PMC;S3D;NSM;REF;OTHERKG;LSD;CLNALLE=1;CLNHGVS=NC_000012.11:g.121432043G>T;CLNSRC=.;CLNORIGIN=1;CLNSRCID=.;CLNSIG=4;CLNDSDB=.;CLNDSDBID=.;CLNDBN=.;CLNACC=. +12 121432056 rs193922605 T C . . RSPOS=121432056;dbSNPBuildID=136;SSR=0;SAO=1;VP=050260000a01000002100100;GENEINFO=HNF1A:6927;WGT=1;VC=SNV;PM;S3D;NSM;REF;OTHERKG;LSD;CLNALLE=1;CLNHGVS=NC_000012.11:g.121432056T>C;CLNSRC=.;CLNORIGIN=1;CLNSRCID=.;CLNSIG=4;CLNDSDB=.;CLNDSDBID=.;CLNDBN=.;CLNACC=. +12 121432068 rs137853238 G A . . RSPOS=121432068;dbSNPBuildID=133;SSR=0;SAO=1;VP=050260000a01000002110100;GENEINFO=HNF1A:6927;WGT=1;VC=SNV;PM;S3D;NSM;REF;OTHERKG;LSD;OM;CLNALLE=1;CLNHGVS=NC_000012.11:g.121432068G>A;CLNSRC=OMIM Allelic Variant;CLNORIGIN=1;CLNSRCID=142410.0005;CLNSIG=5|5;CLNDSDB=NCBI:OMIM|GeneReviews:NCBI:OMIM:Orphanet:SNOMED CT;CLNDSDBID=C2675866:612520|NBK1518:C0268151:230400:79239:398664009;CLNDBN=Diabetes mellitus\x2c insulin-dependent\x2c 20|Deficiency of UTP-hexose-1-phosphate uridylyltransferase;CLNACC=RCV000016068.1|RCV000022210.1 +12 121432080 rs137853245 C A,G . . RSPOS=121432080;dbSNPBuildID=133;SSR=0;SAO=1;VP=050268000a01000002110100;GENEINFO=HNF1A:6927;WGT=1;VC=SNV;PM;PMC;S3D;NSM;REF;OTHERKG;LSD;OM;CLNALLE=1,2;CLNHGVS=NC_000012.11:g.121432080C>A,NC_000012.11:g.121432080C>G;CLNSRC=OMIM Allelic Variant,.;CLNORIGIN=1,1;CLNSRCID=142410.0019,.;CLNSIG=5,4;CLNDSDB=NCBI:OMIM:Orphanet,.;CLNDSDBID=C1838100:600496:552,.;CLNDBN=Maturity-onset diabetes of the young\x2c type 3,.;CLNACC=RCV000016083.1,. +12 121432125 rs193922606 C G . . RSPOS=121432125;dbSNPBuildID=136;SSR=0;SAO=1;VP=050060000a01000002100100;GENEINFO=HNF1A:6927;WGT=1;VC=SNV;PM;NSM;REF;OTHERKG;LSD;CLNALLE=1;CLNHGVS=NC_000012.11:g.121432125C>G;CLNSRC=.;CLNORIGIN=1;CLNSRCID=.;CLNSIG=4;CLNDSDB=.;CLNDSDBID=.;CLNDBN=.;CLNACC=. +12 121432207 rs193922607 C T . . RSPOS=121432207;dbSNPBuildID=136;SSR=0;SAO=1;VP=050060000301000002100100;GENEINFO=HNF1A:6927;WGT=1;VC=SNV;PM;REF;SYN;OTHERKG;LSD;CLNALLE=1;CLNHGVS=NC_000012.11:g.121432207C>T;CLNSRC=.;CLNORIGIN=1;CLNSRCID=.;CLNSIG=0;CLNDSDB=.;CLNDSDBID=.;CLNDBN=.;CLNACC=. +12 121432208 rs137853240 G A . . RSPOS=121432208;dbSNPBuildID=133;SSR=0;SAO=1;VP=050060000a01000002110100;GENEINFO=HNF1A:6927;WGT=1;VC=SNV;PM;NSM;REF;OTHERKG;LSD;OM;CLNALLE=1;CLNHGVS=NC_000012.11:g.121432208G>A;CLNSRC=OMIM Allelic Variant;CLNORIGIN=1;CLNSRCID=142410.0008;CLNSIG=255;CLNDSDB=.;CLNDSDBID=.;CLNDBN=DIABETES MELLITUS\x2c TYPE II\x2c SUSCEPTIBILITY TO;CLNACC=RCV000016071.1 +13 28592636 rs121913490 TGAT T . . RSPOS=28592637;RV;dbSNPBuildID=133;SSR=0;SAO=0;VP=050060000001000002100200;GENEINFO=FLT3:2322;WGT=1;VC=DIV;PM;OTHERKG;LSD;CLNALLE=1;CLNHGVS=NC_000013.10:g.28592637_28592639delGAT;CLNSRC=.;CLNORIGIN=2;CLNSRCID=.;CLNSIG=255;CLNDSDB=.;CLNDSDBID=.;CLNDBN=.;CLNACC=. +13 28592637 rs121913232 G C . . RSPOS=28592637;RV;dbSNPBuildID=133;SSR=0;SAO=3;VP=050060000a01000002100120;GENEINFO=FLT3:2322;WGT=1;VC=SNV;PM;NSM;REF;OTHERKG;LSD;CLNALLE=1;CLNHGVS=NC_000013.10:g.28592637G>C;CLNSRC=.;CLNORIGIN=2;CLNSRCID=.;CLNSIG=255;CLNDSDB=.;CLNDSDBID=.;CLNDBN=.;CLNACC=. +13 28592639 rs121913486 TATC T . . RSPOS=28592640;RV;dbSNPBuildID=133;SSR=0;SAO=0;VP=050060000001000002100200;GENEINFO=FLT3:2322;WGT=1;VC=DIV;PM;OTHERKG;LSD;CLNALLE=1;CLNHGVS=NC_000013.10:g.28592640_28592642delATC;CLNSRC=.;CLNORIGIN=2;CLNSRCID=.;CLNSIG=255;CLNDSDB=.;CLNDSDBID=.;CLNDBN=.;CLNACC=. +13 28592640 rs121913487 A T . . RSPOS=28592640;RV;dbSNPBuildID=133;SSR=0;SAO=3;VP=050060000a01000002100120;GENEINFO=FLT3:2322;WGT=1;VC=SNV;PM;NSM;REF;OTHERKG;LSD;CLNALLE=1;CLNHGVS=NC_000013.10:g.28592640A>T;CLNSRC=.;CLNORIGIN=2;CLNSRCID=.;CLNSIG=255;CLNDSDB=.;CLNDSDBID=.;CLNDBN=.;CLNACC=. +13 28592641 rs121909646 T A . . RSPOS=28592641;RV;dbSNPBuildID=133;SSR=0;SAO=3;VP=050060000a01000002110120;GENEINFO=FLT3:2322;WGT=1;VC=SNV;PM;NSM;REF;OTHERKG;LSD;OM;CLNALLE=1;CLNHGVS=NC_000013.10:g.28592641T>A;CLNSRC=OMIM Allelic Variant;CLNORIGIN=1;CLNSRCID=136351.0003;CLNSIG=255|255;CLNDSDB=.|.;CLNDSDBID=.|.;CLNDBN=Leukemia\x2c acute myeloid\x2c somatic|Leukemia\x2c acute lymphoblastic\x2c somatic;CLNACC=RCV000017660.1|RCV000017661.1 +13 28592642 rs121913488 C A,G,T . . RSPOS=28592642;RV;dbSNPBuildID=133;SSR=0;SAO=3;VP=050060000a01000002110124;GENEINFO=FLT3:2322;WGT=1;VC=SNV;PM;NSM;REF;OTHERKG;LSD;OM;NOV;CLNALLE=1,2,3;CLNHGVS=NC_000013.10:g.28592642C>A,NC_000013.10:g.28592642C>G,NC_000013.10:g.28592642C>T;CLNSRC=.,.,.;CLNORIGIN=1,2,1;CLNSRCID=.,.,.;CLNSIG=4,4,4;CLNDSDB=.,.,.;CLNDSDBID=.,.,.;CLNDBN=.,.,.;CLNACC=.,.,. +13 28608341 rs121913491 T C . . RSPOS=28608341;RV;dbSNPBuildID=133;SSR=0;SAO=3;VP=050060000a01000002100120;GENEINFO=FLT3:2322;WGT=1;VC=SNV;PM;NSM;REF;OTHERKG;LSD;CLNALLE=1;CLNHGVS=NC_000013.10:g.28608341T>C;CLNSRC=.;CLNORIGIN=2;CLNSRCID=.;CLNSIG=255;CLNDSDB=.;CLNDSDBID=.;CLNDBN=.;CLNACC=. +13 48919244 rs121913296 G T . . RSPOS=48919244;dbSNPBuildID=133;SSR=0;SAO=3;VP=050260000601000002100120;GENEINFO=RB1:5925;WGT=1;VC=SNV;PM;S3D;NSN;REF;OTHERKG;LSD;CLNALLE=1;CLNHGVS=NC_000013.10:g.48919244G>T;CLNSRC=.;CLNORIGIN=2;CLNSRCID=.;CLNSIG=255;CLNDSDB=.;CLNDSDBID=.;CLNDBN=.;CLNACC=. +13 48923148 rs121913298 T A . . RSPOS=48923148;dbSNPBuildID=133;SSR=0;SAO=3;VP=050260000601000002100120;GENEINFO=RB1:5925;WGT=1;VC=SNV;PM;S3D;NSN;REF;OTHERKG;LSD;CLNALLE=1;CLNHGVS=NC_000013.10:g.48923148T>A;CLNSRC=.;CLNORIGIN=2;CLNSRCID=.;CLNSIG=255;CLNDSDB=.;CLNDSDBID=.;CLNDBN=.;CLNACC=. +13 48942685 rs121913301 C T . . RSPOS=48942685;dbSNPBuildID=133;SSR=0;SAO=3;VP=050260000601000002110120;GENEINFO=RB1:5925;WGT=1;VC=SNV;PM;S3D;NSN;REF;OTHERKG;LSD;OM;CLNALLE=1;CLNHGVS=NC_000013.10:g.48942685C>T;CLNSRC=OMIM Allelic Variant;CLNORIGIN=2;CLNSRCID=614041.0008;CLNSIG=5;CLNDSDB=GeneReviews:NCBI:OMIM:Orphanet;CLNDSDBID=NBK1452:C0035335:180200:790;CLNDBN=Retinoblastoma;CLNACC=RCV000013951.1 +13 48955538 rs121913303 C T . . RSPOS=48955538;dbSNPBuildID=133;SSR=0;SAO=3;VP=050260000601000002100120;GENEINFO=RB1:5925;WGT=1;VC=SNV;PM;S3D;NSN;REF;OTHERKG;LSD;CLNALLE=1;CLNHGVS=NC_000013.10:g.48955538C>T;CLNSRC=.;CLNORIGIN=2;CLNSRCID=.;CLNSIG=255;CLNDSDB=.;CLNDSDBID=.;CLNDBN=.;CLNACC=. +13 48955550 rs121913304 C T . . RSPOS=48955550;dbSNPBuildID=133;SSR=0;SAO=3;VP=050260000601000002110120;GENEINFO=RB1:5925;WGT=1;VC=SNV;PM;S3D;NSN;REF;OTHERKG;LSD;OM;CLNALLE=1;CLNHGVS=NC_000013.10:g.48955550C>T;CLNSRC=OMIM Allelic Variant;CLNORIGIN=1;CLNSRCID=614041.0022;CLNSIG=4|1;CLNDSDB=NCBI|NCBI;CLNDSDBID=C0205898|CN069793;CLNDBN=Pineoblastoma|Retinoblastoma\x2c trilateral;CLNACC=RCV000013965.1|RCV000013966.1 +13 49027133 rs137853292 C T . . RSPOS=49027133;dbSNPBuildID=133;SSR=0;SAO=1;VP=050260000a01000002110100;GENEINFO=RB1:5925;WGT=1;VC=SNV;PM;S3D;NSM;REF;OTHERKG;LSD;OM;CLNALLE=1;CLNHGVS=NC_000013.10:g.49027133C>T;CLNSRC=OMIM Allelic Variant;CLNORIGIN=1;CLNSRCID=614041.0004;CLNSIG=5;CLNDSDB=GeneReviews:NCBI:OMIM:Orphanet;CLNDSDBID=NBK1452:C0035335:180200:790;CLNDBN=Retinoblastoma;CLNACC=RCV000013947.1 +13 49027168 rs121913305 C T . . RSPOS=49027168;dbSNPBuildID=133;SSR=0;SAO=3;VP=050260000601000002100120;GENEINFO=RB1:5925;WGT=1;VC=SNV;PM;S3D;NSN;REF;OTHERKG;LSD;CLNALLE=1;CLNHGVS=NC_000013.10:g.49027168C>T;CLNSRC=.;CLNORIGIN=2;CLNSRCID=.;CLNSIG=255;CLNDSDB=.;CLNDSDBID=.;CLNDBN=.;CLNACC=. +13 49033842 rs121913299 TCCGG T . . RSPOS=49033843;dbSNPBuildID=133;SSR=0;SAO=0;VP=050060001201000002100200;GENEINFO=RB1:5925;WGT=1;VC=DIV;PM;NSF;REF;OTHERKG;LSD;CLNALLE=1;CLNHGVS=NC_000013.10:g.49033843_49033846delCCGG;CLNSRC=.;CLNORIGIN=2;CLNSRCID=.;CLNSIG=255;CLNDSDB=.;CLNDSDBID=.;CLNDBN=.;CLNACC=. +13 49033844 rs137853294 C T . . RSPOS=49033844;dbSNPBuildID=133;SSR=0;SAO=1;VP=050260000a01000002110100;GENEINFO=RB1:5925;WGT=1;VC=SNV;PM;S3D;NSM;REF;OTHERKG;LSD;OM;CLNALLE=1;CLNHGVS=NC_000013.10:g.49033844C>T;CLNSRC=OMIM Allelic Variant;CLNORIGIN=1;CLNSRCID=614041.0019;CLNSIG=5;CLNDSDB=GeneReviews:NCBI:OMIM:Orphanet;CLNDSDBID=NBK1452:C0035335:180200:790;CLNDBN=Retinoblastoma;CLNACC=RCV000013962.1 +13 49033886 rs137853295 G T . . RSPOS=49033886;dbSNPBuildID=133;SSR=0;SAO=1;VP=050260000601000002110100;GENEINFO=RB1:5925;WGT=1;VC=SNV;PM;S3D;NSN;REF;OTHERKG;LSD;OM;CLNALLE=1;CLNHGVS=NC_000013.10:g.49033886G>T;CLNSRC=.;CLNORIGIN=1;CLNSRCID=.;CLNSIG=1;CLNDSDB=.;CLNDSDBID=.;CLNDBN=.;CLNACC=. +13 49037877 rs121913295 G T . . RSPOS=49037877;dbSNPBuildID=133;SSR=0;SAO=3;VP=050260000a01000002100120;GENEINFO=RB1:5925;WGT=1;VC=SNV;PM;S3D;NSM;REF;OTHERKG;LSD;CLNALLE=1;CLNHGVS=NC_000013.10:g.49037877G>T;CLNSRC=.;CLNORIGIN=2;CLNSRCID=.;CLNSIG=255;CLNDSDB=.;CLNDSDBID=.;CLNDBN=.;CLNACC=. +13 49037894 rs137853296 T C . . RSPOS=49037894;dbSNPBuildID=133;SSR=0;SAO=1;VP=050260000a01000002110100;GENEINFO=RB1:5925;WGT=1;VC=SNV;PM;S3D;NSM;REF;OTHERKG;LSD;OM;CLNALLE=1;CLNHGVS=NC_000013.10:g.49037894T>C;CLNSRC=OMIM Allelic Variant;CLNORIGIN=1;CLNSRCID=614041.0024;CLNSIG=5;CLNDSDB=GeneReviews:NCBI:OMIM:Orphanet;CLNDSDBID=NBK1452:C0035335:180200:790;CLNDBN=Retinoblastoma;CLNACC=RCV000013968.1 +13 49039164 rs121913297 G T . . RSPOS=49039164;dbSNPBuildID=133;SSR=0;SAO=3;VP=050260000601000002110120;GENEINFO=RB1:5925;WGT=1;VC=SNV;PM;S3D;NSN;REF;OTHERKG;LSD;OM;CLNALLE=1;CLNHGVS=NC_000013.10:g.49039164G>T;CLNSRC=OMIM Allelic Variant;CLNORIGIN=1;CLNSRCID=614041.0010;CLNSIG=255;CLNDSDB=NCBI:OMIM:Orphanet;CLNDSDBID=C0149925:182280:70573;CLNDBN=Small cell cancer of the lung;CLNACC=RCV000013953.1 +14 105246551 rs121434592 C T . . RSPOS=105246551;RV;dbSNPBuildID=132;SSR=0;SAO=1;VP=050360000a01000002110100;GENEINFO=AKT1:207;WGT=1;VC=SNV;PM;S3D;SLO;NSM;REF;OTHERKG;LSD;OM;CLNALLE=1;CLNHGVS=NC_000014.8:g.105246551C>T;CLNSRC=OMIM Allelic Variant;CLNORIGIN=1;CLNSRCID=164730.0001;CLNSIG=255|255|255|255;CLNDSDB=.|.|.|.;CLNDSDBID=.|.|.|.;CLNDBN=Breast cancer\x2c somatic|Colorectal cancer\x2c somatic|Ovarian cancer\x2c somatic|PROTEUS SYNDROME\x2c SOMATIC;CLNACC=RCV000015017.1|RCV000015018.1|RCV000015019.1|RCV000022675.1 +17 7573996 rs121912662 A G . . RSPOS=7573996;RV;dbSNPBuildID=133;SSR=0;SAO=1;VP=050060800a01000002110100;GENEINFO=TP53:7157;WGT=1;VC=SNV;PM;NSM;REF;U3;OTHERKG;LSD;OM;CLNALLE=1;CLNHGVS=NC_000017.10:g.7573996A>G;CLNSRC=OMIM Allelic Variant;CLNORIGIN=1;CLNSRCID=191170.0031;CLNSIG=5;CLNDSDB=GeneReviews:NCBI:OMIM:Orphanet:SNOMED CT;CLNDSDBID=NBK1311:C1835398:151623:524:428850001;CLNDBN=Li-Fraumeni syndrome 1;CLNACC=RCV000013174.1 +17 7574017 rs121912664 C T . . RSPOS=7574017;RV;dbSNPBuildID=133;SSR=0;SAO=1;VP=050060800a01000002110100;GENEINFO=TP53:7157;WGT=1;VC=SNV;PM;NSM;REF;U3;OTHERKG;LSD;OM;CLNALLE=1;CLNHGVS=NC_000017.10:g.7574017C>T;CLNSRC=OMIM Allelic Variant;CLNORIGIN=1;CLNSRCID=191170.0035;CLNSIG=5;CLNDSDB=NCBI;CLNDSDBID=C1859973;CLNDBN=Adrenocortical carcinoma\x2c pediatric;CLNACC=RCV000013178.1 +17 7577022 rs121913344 G A . . RSPOS=7577022;RV;dbSNPBuildID=133;SSR=0;SAO=3;VP=050260000601000002100120;GENEINFO=TP53:7157;WGT=1;VC=SNV;PM;S3D;NSN;REF;OTHERKG;LSD;CLNALLE=1;CLNHGVS=NC_000017.10:g.7577022G>A;CLNSRC=.;CLNORIGIN=2;CLNSRCID=.;CLNSIG=255;CLNDSDB=.;CLNDSDBID=.;CLNDBN=.;CLNACC=. +17 7577063 rs121912663 T A . . RSPOS=7577063;RV;dbSNPBuildID=133;SSR=0;SAO=1;VP=050260000a01000002110100;GENEINFO=TP53:7157;WGT=1;VC=SNV;PM;S3D;NSM;REF;OTHERKG;LSD;OM;CLNALLE=1;CLNHGVS=NC_000017.10:g.7577063T>A;CLNSRC=OMIM Allelic Variant;CLNORIGIN=1;CLNSRCID=191170.0034;CLNSIG=5;CLNDSDB=GeneReviews:NCBI:OMIM:Orphanet:SNOMED CT;CLNDSDBID=NBK1311:C1835398:151623:524:428850001;CLNDBN=Li-Fraumeni syndrome 1;CLNACC=RCV000013177.1 +17 7577084 rs121912667 T A . . RSPOS=7577084;RV;dbSNPBuildID=133;SSR=0;SAO=1;VP=050260000a01000002110100;GENEINFO=TP53:7157;WGT=1;VC=SNV;PM;S3D;NSM;REF;OTHERKG;LSD;OM;CLNALLE=1;CLNHGVS=NC_000017.10:g.7577084T>A;CLNSRC=OMIM Allelic Variant;CLNORIGIN=1;CLNSRCID=191170.0040;CLNSIG=5|5;CLNDSDB=NCBI|NCBI;CLNDSDBID=C1859973|C0431109;CLNDBN=Adrenocortical carcinoma\x2c pediatric|Choroid plexus carcinoma;CLNACC=RCV000013184.1|RCV000013185.1 +17 7577094 rs28934574 G A . . RSPOS=7577094;RV;dbSNPBuildID=133;SSR=0;SAO=1;VP=050260000a01000002110100;GENEINFO=TP53:7157;WGT=1;VC=SNV;PM;S3D;NSM;REF;OTHERKG;LSD;OM;CLNALLE=1;CLNHGVS=NC_000017.10:g.7577094G>A;CLNSRC=OMIM Allelic Variant|OMIM Allelic Variant;CLNORIGIN=1;CLNSRCID=191170.0018|191170.0022;CLNSIG=5;CLNDSDB=NCBI:OMIM:Orphanet:SNOMED CT;CLNDSDBID=C0029463:259500:668:21708004;CLNDBN=Osteosarcoma;CLNACC=RCV000013161.1 +17 7577099 rs121912660 C A,G . . RSPOS=7577099;RV;dbSNPBuildID=133;SSR=0;SAO=3;VP=050260000a01000002110120;GENEINFO=TP53:7157;WGT=1;VC=SNV;PM;S3D;NSM;REF;OTHERKG;LSD;OM;CLNALLE=1,2;CLNHGVS=NC_000017.10:g.7577099C>A,NC_000017.10:g.7577099C>G;CLNSRC=.,OMIM Allelic Variant;CLNORIGIN=2,1;CLNSRCID=.,191170.0024;CLNSIG=0,255;CLNDSDB=.,.;CLNDSDBID=.,.;CLNDBN=.,Nasopharyngeal carcinoma\x2c somatic;CLNACC=.,RCV000013167.1 +17 7577120 rs28934576 C T . . RSPOS=7577120;RV;GMAF=0.0005;dbSNPBuildID=133;SSR=0;SAO=3;VP=050260000a01000016110120;GENEINFO=TP53:7157;WGT=1;VC=SNV;PM;S3D;NSM;REF;KGPhase1;KGPROD;OTHERKG;LSD;OM;CLNALLE=1;CLNHGVS=NC_000017.10:g.7577120C>T;CLNSRC=OMIM Allelic Variant;CLNORIGIN=1;CLNSRCID=191170.0020;CLNSIG=5|255;CLNDSDB=GeneReviews:NCBI:OMIM:Orphanet:SNOMED CT|.;CLNDSDBID=NBK1311:C1835398:151623:524:428850001|.;CLNDBN=Li-Fraumeni syndrome 1|Thyroid carcinoma\x2c anaplastic\x2c somatic;CLNACC=RCV000013163.1|RCV000013164.1 +17 7577121 rs121913343 G A . . RSPOS=7577121;RV;dbSNPBuildID=133;SSR=0;SAO=3;VP=050260000a01000002100120;GENEINFO=TP53:7157;WGT=1;VC=SNV;PM;S3D;NSM;REF;OTHERKG;LSD;CLNALLE=1;CLNHGVS=NC_000017.10:g.7577121G>A;CLNSRC=.;CLNORIGIN=2;CLNSRCID=.;CLNSIG=0;CLNDSDB=.;CLNDSDBID=.;CLNDBN=.;CLNACC=. +17 7577124 rs121912657 C A . . RSPOS=7577124;RV;dbSNPBuildID=133;SSR=0;SAO=1;VP=050260000a01000002110100;GENEINFO=TP53:7157;WGT=1;VC=SNV;PM;S3D;NSM;REF;OTHERKG;LSD;OM;CLNALLE=1;CLNHGVS=NC_000017.10:g.7577124C>A;CLNSRC=OMIM Allelic Variant;CLNORIGIN=1;CLNSRCID=191170.0012;CLNSIG=5;CLNDSDB=GeneReviews:NCBI:OMIM:Orphanet:SNOMED CT;CLNDSDBID=NBK1311:C1835398:151623:524:428850001;CLNDBN=Li-Fraumeni syndrome 1;CLNACC=RCV000013152.1 +17 7577141 rs193920774 C T . . RSPOS=7577141;RV;dbSNPBuildID=136;SSR=0;SAO=3;VP=050260000a01000002100120;GENEINFO=TP53:7157;WGT=1;VC=SNV;PM;S3D;NSM;REF;OTHERKG;LSD;CLNALLE=1;CLNHGVS=NC_000017.10:g.7577141C>T;CLNSRC=.;CLNORIGIN=2;CLNSRCID=.;CLNSIG=0;CLNDSDB=.;CLNDSDBID=.;CLNDBN=.;CLNACC=. +17 7577509 rs121912652 C T . . RSPOS=7577509;RV;dbSNPBuildID=133;SSR=0;SAO=1;VP=050260000a01000002110100;GENEINFO=TP53:7157;WGT=1;VC=SNV;PM;S3D;NSM;REF;OTHERKG;LSD;OM;CLNALLE=1;CLNHGVS=NC_000017.10:g.7577509C>T;CLNSRC=OMIM Allelic Variant;CLNORIGIN=1;CLNSRCID=191170.0002;CLNSIG=5;CLNDSDB=GeneReviews:NCBI:OMIM:Orphanet:SNOMED CT;CLNDSDBID=NBK1311:C1835398:151623:524:428850001;CLNDBN=Li-Fraumeni syndrome 1;CLNACC=RCV000013141.1 +17 7577511 rs28934577 A T . . RSPOS=7577511;RV;dbSNPBuildID=133;SSR=0;SAO=1;VP=050260000a01000002110100;GENEINFO=TP53:7157;WGT=1;VC=SNV;PM;S3D;NSM;REF;OTHERKG;LSD;OM;CLNALLE=1;CLNHGVS=NC_000017.10:g.7577511A>T;CLNSRC=OMIM Allelic Variant;CLNORIGIN=1;CLNSRCID=191170.0028;CLNSIG=5;CLNDSDB=NCBI:OMIM:Orphanet:SNOMED CT;CLNDSDBID=C0029463:259500:668:21708004;CLNDBN=Osteosarcoma;CLNACC=RCV000013171.1 +17 7577526 rs121912653 A G . . RSPOS=7577526;RV;dbSNPBuildID=133;SSR=0;SAO=1;VP=050260000a01000002110100;GENEINFO=TP53:7157;WGT=1;VC=SNV;PM;S3D;NSM;REF;OTHERKG;LSD;OM;CLNALLE=1;CLNHGVS=NC_000017.10:g.7577526A>G;CLNSRC=OMIM Allelic Variant;CLNORIGIN=1;CLNSRCID=191170.0004;CLNSIG=5;CLNDSDB=GeneReviews:NCBI:OMIM:Orphanet:SNOMED CT;CLNDSDBID=NBK1311:C1835398:151623:524:428850001;CLNDBN=Li-Fraumeni syndrome 1;CLNACC=RCV000013143.1 +17 7577534 rs28934571 C A . . RSPOS=7577534;RV;dbSNPBuildID=133;SSR=0;SAO=1;VP=050260000a01000002110100;GENEINFO=TP53:7157;WGT=1;VC=SNV;PM;S3D;NSM;REF;OTHERKG;LSD;OM;CLNALLE=1;CLNHGVS=NC_000017.10:g.7577534C>A;CLNSRC=OMIM Allelic Variant;CLNORIGIN=1;CLNSRCID=191170.0006;CLNSIG=255|255;CLNDSDB=.|.;CLNDSDBID=.|.;CLNDBN=Hepatocellular carcinoma\x2c somatic|Cervical cancer\x2c somatic;CLNACC=RCV000013145.1|RCV000013146.1 +17 7577538 rs11540652 C T . . RSPOS=7577538;RV;dbSNPBuildID=120;SSR=0;SAO=3;VP=050368000a01000002110120;GENEINFO=TP53:7157;WGT=1;VC=SNV;PM;PMC;S3D;SLO;NSM;REF;OTHERKG;LSD;OM;CLNALLE=1;CLNHGVS=NC_000017.10:g.7577538C>T;CLNSRC=OMIM Allelic Variant;CLNORIGIN=2;CLNSRCID=191170.0010;CLNSIG=5;CLNDSDB=GeneReviews:NCBI:OMIM:Orphanet:SNOMED CT;CLNDSDBID=NBK1311:C1835398:151623:524:428850001;CLNDBN=Li-Fraumeni syndrome 1;CLNACC=RCV000013150.1 +17 7577539 rs121912651 G A . . RSPOS=7577539;RV;dbSNPBuildID=133;SSR=0;SAO=3;VP=050260000a01000002110120;GENEINFO=TP53:7157;WGT=1;VC=SNV;PM;S3D;NSM;REF;OTHERKG;LSD;OM;CLNALLE=1;CLNHGVS=NC_000017.10:g.7577539G>A;CLNSRC=OMIM Allelic Variant;CLNORIGIN=1;CLNSRCID=191170.0001;CLNSIG=5;CLNDSDB=GeneReviews:NCBI:OMIM:Orphanet:SNOMED CT;CLNDSDBID=NBK1311:C1835398:151623:524:428850001;CLNDBN=Li-Fraumeni syndrome 1;CLNACC=RCV000013140.1 +17 7577547 rs121912656 C T . . RSPOS=7577547;RV;dbSNPBuildID=133;SSR=0;SAO=1;VP=050260000a01000002110100;GENEINFO=TP53:7157;WGT=1;VC=SNV;PM;S3D;NSM;REF;OTHERKG;LSD;OM;CLNALLE=1;CLNHGVS=NC_000017.10:g.7577547C>T;CLNSRC=OMIM Allelic Variant;CLNORIGIN=1;CLNSRCID=191170.0009;CLNSIG=5;CLNDSDB=GeneReviews:NCBI:OMIM:Orphanet:SNOMED CT;CLNDSDBID=NBK1311:C1835398:151623:524:428850001;CLNDBN=Li-Fraumeni syndrome 1;CLNACC=RCV000013149.1 +17 7577556 rs121912655 C T . . RSPOS=7577556;RV;dbSNPBuildID=133;SSR=0;SAO=1;VP=050260000a01000002110100;GENEINFO=TP53:7157;WGT=1;VC=SNV;PM;S3D;NSM;REF;OTHERKG;LSD;OM;CLNALLE=1;CLNHGVS=NC_000017.10:g.7577556C>T;CLNSRC=OMIM Allelic Variant;CLNORIGIN=1;CLNSRCID=191170.0008;CLNSIG=5;CLNDSDB=.;CLNDSDBID=.;CLNDBN=Ependymoma\x2c intracranial;CLNACC=RCV000013148.1 +17 7577559 rs28934573 G A . . RSPOS=7577559;RV;dbSNPBuildID=133;SSR=0;SAO=1;VP=050260000a01000002110100;GENEINFO=TP53:7157;WGT=1;VC=SNV;PM;S3D;NSM;REF;OTHERKG;LSD;OM;CLNALLE=1;CLNHGVS=NC_000017.10:g.7577559G>A;CLNSRC=OMIM Allelic Variant;CLNORIGIN=1;CLNSRCID=191170.0013;CLNSIG=5|5;CLNDSDB=NCBI|NCBI:OMIM:Orphanet:SNOMED CT;CLNDSDBID=C0206624|C0029463:259500:668:21708004;CLNDBN=Hepatoblastoma|Osteosarcoma;CLNACC=RCV000013153.1|RCV000013154.1 +17 7577567 rs193920789 A C . . RSPOS=7577567;RV;dbSNPBuildID=136;SSR=0;SAO=3;VP=050260000a01000002100120;GENEINFO=TP53:7157;WGT=1;VC=SNV;PM;S3D;NSM;REF;OTHERKG;LSD;CLNALLE=1;CLNHGVS=NC_000017.10:g.7577567A>C;CLNSRC=.;CLNORIGIN=2;CLNSRCID=.;CLNSIG=0;CLNDSDB=.;CLNDSDBID=.;CLNDBN=.;CLNACC=. +17 7578190 rs121912666 T G . . RSPOS=7578190;RV;dbSNPBuildID=133;SSR=0;SAO=1;VP=050260000a01000002110100;GENEINFO=TP53:7157;WGT=1;VC=SNV;PM;S3D;NSM;REF;OTHERKG;LSD;OM;CLNALLE=1;CLNHGVS=NC_000017.10:g.7578190T>G;CLNSRC=OMIM Allelic Variant;CLNORIGIN=1;CLNSRCID=191170.0039;CLNSIG=5;CLNDSDB=GeneReviews:NCBI:OMIM:Orphanet:SNOMED CT;CLNDSDBID=NBK1311:C1835398:151623:524:428850001;CLNDBN=Li-Fraumeni syndrome 1;CLNACC=RCV000013183.1 +17 7578283 rs121912665 G A . . RSPOS=7578283;RV;dbSNPBuildID=133;SSR=0;SAO=1;VP=050260000a01000002110100;GENEINFO=TP53:7157;WGT=1;VC=SNV;PM;S3D;NSM;REF;OTHERKG;LSD;OM;CLNALLE=1;CLNHGVS=NC_000017.10:g.7578283G>A;CLNSRC=OMIM Allelic Variant;CLNORIGIN=1;CLNSRCID=191170.0038;CLNSIG=5;CLNDSDB=GeneReviews:NCBI:OMIM:Orphanet;CLNDSDBID=NBK1211:CN029768:114500:33402;CLNDBN=Familial colorectal cancer;CLNACC=RCV000013182.1 +17 7578406 rs28934578 C T . . RSPOS=7578406;RV;dbSNPBuildID=132;SSR=0;SAO=3;VP=050260000a01000002110120;GENEINFO=TP53:7157;WGT=1;VC=SNV;PM;S3D;NSM;REF;OTHERKG;LSD;OM;CLNALLE=1;CLNHGVS=NC_000017.10:g.7578406C>T;CLNSRC=OMIM Allelic Variant;CLNORIGIN=1;CLNSRCID=191170.0030;CLNSIG=5;CLNDSDB=GeneReviews:NCBI:OMIM:Orphanet:SNOMED CT;CLNDSDBID=NBK1311:C1835398:151623:524:428850001;CLNDBN=Li-Fraumeni syndrome 1;CLNACC=RCV000013173.1 +17 7578449 rs193920817 C T . . RSPOS=7578449;RV;dbSNPBuildID=136;SSR=0;SAO=3;VP=050260000a01000002100120;GENEINFO=TP53:7157;WGT=1;VC=SNV;PM;S3D;NSM;REF;OTHERKG;LSD;CLNALLE=1;CLNHGVS=NC_000017.10:g.7578449C>T;CLNSRC=.;CLNORIGIN=2;CLNSRCID=.;CLNSIG=0;CLNDSDB=.;CLNDSDBID=.;CLNDBN=.;CLNACC=. +17 7578461 rs121912654 C A . . RSPOS=7578461;RV;dbSNPBuildID=133;SSR=0;SAO=1;VP=050260000a01000002110100;GENEINFO=TP53:7157;WGT=1;VC=SNV;PM;S3D;NSM;REF;OTHERKG;LSD;OM;CLNALLE=1;CLNHGVS=NC_000017.10:g.7578461C>A;CLNSRC=OMIM Allelic Variant;CLNORIGIN=1;CLNSRCID=191170.0007;CLNSIG=255;CLNDSDB=.;CLNDSDBID=.;CLNDBN=Hepatocellular carcinoma\x2c somatic;CLNACC=RCV000013147.1 +17 7578468 rs137852793 G A . . RSPOS=7578468;RV;dbSNPBuildID=133;SSR=0;SAO=3;VP=050260000301000002110120;GENEINFO=TP53:7157;WGT=1;VC=SNV;PM;S3D;REF;SYN;OTHERKG;LSD;OM;CLNALLE=1;CLNHGVS=NC_000017.10:g.7578468G>A;CLNSRC=.;CLNORIGIN=2;CLNSRCID=.;CLNSIG=255;CLNDSDB=.;CLNDSDBID=.;CLNDBN=.;CLNACC=. +17 7578470 rs137852789 C T . . RSPOS=7578470;RV;dbSNPBuildID=133;SSR=0;SAO=3;VP=050260000a01000002100120;GENEINFO=TP53:7157;WGT=1;VC=SNV;PM;S3D;NSM;REF;OTHERKG;LSD;CLNALLE=1;CLNHGVS=NC_000017.10:g.7578470C>T;CLNSRC=.;CLNORIGIN=2;CLNSRCID=.;CLNSIG=255;CLNDSDB=.;CLNDSDBID=.;CLNDBN=.;CLNACC=. +17 7578470 rs137852791 CGGGCGGGGGT C . . RSPOS=7578471;RV;dbSNPBuildID=133;SSR=0;SAO=0;VP=050060001201000002100200;GENEINFO=TP53:7157;WGT=1;VC=DIV;PM;NSF;REF;OTHERKG;LSD;CLNALLE=1;CLNHGVS=NC_000017.10:g.7578471_7578480delGGGCGGGGGT;CLNSRC=.;CLNORIGIN=2;CLNSRCID=.;CLNSIG=255;CLNDSDB=.;CLNDSDBID=.;CLNDBN=.;CLNACC=. +17 7578470 rs137852790 CGGGCGGGGGTGT C . . RSPOS=7578471;RV;dbSNPBuildID=133;SSR=0;SAO=0;VP=050060000001000002100200;GENEINFO=TP53:7157;WGT=1;VC=DIV;PM;OTHERKG;LSD;CLNALLE=1;CLNHGVS=NC_000017.10:g.7578471_7578482delGGGCGGGGGTGT;CLNSRC=.;CLNORIGIN=2;CLNSRCID=.;CLNSIG=255;CLNDSDB=.;CLNDSDBID=.;CLNDBN=.;CLNACC=. +17 7578479 rs28934874 G A,T . . RSPOS=7578479;RV;dbSNPBuildID=133;SSR=0;SAO=1;VP=050260000a01000002110100;GENEINFO=TP53:7157;WGT=1;VC=SNV;PM;S3D;NSM;REF;OTHERKG;LSD;OM;CLNALLE=1,2;CLNHGVS=NC_000017.10:g.7578479G>A,NC_000017.10:g.7578479G>T;CLNSRC=OMIM Allelic Variant,OMIM Allelic Variant;CLNORIGIN=1,1;CLNSRCID=191170.0026,191170.0025;CLNSIG=255,255;CLNDSDB=.,.;CLNDSDBID=.,.;CLNDBN=Breast cancer\x2c somatic,Breast cancer\x2c somatic;CLNACC=RCV000013169.1,RCV000013168.1 +17 7578515 rs137852794 TG T . . RSPOS=7578517;RV;dbSNPBuildID=133;SSR=0;SAO=0;VP=050060001201000002110200;GENEINFO=TP53:7157;WGT=1;VC=DIV;PM;NSF;REF;OTHERKG;LSD;OM;CLNALLE=1;CLNHGVS=NC_000017.10:g.7578517delG;CLNSRC=.;CLNORIGIN=2;CLNSRCID=.;CLNSIG=255;CLNDSDB=.;CLNDSDBID=.;CLNDBN=.;CLNACC=. +17 7578532 rs28934873 A G . . RSPOS=7578532;RV;dbSNPBuildID=133;SSR=0;SAO=1;VP=050260000a01000002110100;GENEINFO=TP53:7157;WGT=1;VC=SNV;PM;S3D;NSM;REF;OTHERKG;LSD;OM;CLNALLE=1;CLNHGVS=NC_000017.10:g.7578532A>G;CLNSRC=OMIM Allelic Variant;CLNORIGIN=1;CLNSRCID=191170.0011;CLNSIG=5;CLNDSDB=GeneReviews:NCBI:OMIM:Orphanet:SNOMED CT;CLNDSDBID=NBK1311:C1835398:151623:524:428850001;CLNDBN=Li-Fraumeni syndrome 1;CLNACC=RCV000013151.1 +17 7578544 rs137852792 G A . . RSPOS=7578544;RV;dbSNPBuildID=133;SSR=0;SAO=3;VP=050260400a01000002110120;GENEINFO=TP53:7157;WGT=1;VC=SNV;PM;S3D;NSM;REF;U5;OTHERKG;LSD;OM;CLNALLE=1;CLNHGVS=NC_000017.10:g.7578544G>A;CLNSRC=.;CLNORIGIN=2;CLNSRCID=.;CLNSIG=255;CLNDSDB=.;CLNDSDBID=.;CLNDBN=.;CLNACC=. +17 7579329 rs121912658 T A . . RSPOS=7579329;RV;dbSNPBuildID=133;SSR=0;SAO=1;VP=050260020601000002110100;GENEINFO=TP53:7157;WGT=1;VC=SNV;PM;S3D;NSN;REF;R5;OTHERKG;LSD;OM;CLNALLE=1;CLNHGVS=NC_000017.10:g.7579329T>A;CLNSRC=OMIM Allelic Variant;CLNORIGIN=1;CLNSRCID=191170.0017;CLNSIG=5|5|5;CLNDSDB=NCBI:OMIM:Orphanet:SNOMED CT|NCBI|NCBI;CLNDSDBID=C0029463:259500:668:21708004|C0152013|C0349661;CLNDBN=Osteosarcoma|Adenocarcinoma of lung|Glioma of brain;CLNACC=RCV000013158.1|RCV000013159.1|RCV000013160.1 +17 7579472 rs1042522 G C . . RSPOS=7579472;RV;GMAF=0.3979;dbSNPBuildID=86;SSR=0;SAO=1;VP=050178020a0117051f110101;GENEINFO=TP53:7157;WGT=1;VC=SNV;PM;TPA;PMC;SLO;NSM;REF;R5;VLD;G5A;G5;HD;GNO;KGPhase1;KGPilot123;KGPROD;OTHERKG;PH3;LSD;OM;GCF;CLNALLE=1;CLNHGVS=NC_000017.10:g.7579472G>C;CLNSRC=OMIM Allelic Variant;CLNORIGIN=1;CLNSRCID=191170.0005;CLNSIG=2;CLNDSDB=.;CLNDSDBID=.;CLNDBN=CODON 72 POLYMORPHISM\x2c (rs1042522);CLNACC=RCV000013144.1 +17 37880218 rs121913469 GTT GCC . . RSPOS=37880219;dbSNPBuildID=133;SSR=0;SAO=3;VP=050060000a01000002110820;GENEINFO=ERBB2:2064;WGT=1;VC=MNV;PM;NSM;REF;OTHERKG;LSD;OM;CLNALLE=1;CLNHGVS=NC_000017.10:g.37880219_37880220delinsCC;CLNSRC=OMIM Allelic Variant;CLNORIGIN=2;CLNSRCID=164870.0005;CLNSIG=255;CLNDSDB=.;CLNDSDBID=.;CLNDBN=Adenocarcinoma of lung\x2c somatic;CLNACC=RCV000014891.1 +17 37880220 rs121913470 T C . . RSPOS=37880220;dbSNPBuildID=133;SSR=0;SAO=3;VP=050060000a01000002100120;GENEINFO=ERBB2:2064;WGT=1;VC=SNV;PM;NSM;REF;OTHERKG;LSD;CLNALLE=1;CLNHGVS=NC_000017.10:g.37880220T>C;CLNSRC=.;CLNORIGIN=2;CLNSRCID=.;CLNSIG=255;CLNDSDB=.;CLNDSDBID=.;CLNDBN=.;CLNACC=. +17 37880261 rs121913468 G C . . RSPOS=37880261;dbSNPBuildID=133;SSR=0;SAO=3;VP=050060000a01000002100120;GENEINFO=ERBB2:2064;WGT=1;VC=SNV;PM;NSM;REF;OTHERKG;LSD;CLNALLE=1;CLNHGVS=NC_000017.10:g.37880261G>C;CLNSRC=.;CLNORIGIN=2;CLNSRCID=.;CLNSIG=255;CLNDSDB=.;CLNDSDBID=.;CLNDBN=.;CLNACC=. +17 37880997 rs28933369 G A . . RSPOS=37880997;dbSNPBuildID=126;SSR=0;SAO=3;VP=050060020a01000002110120;GENEINFO=ERBB2:2064|MIR4728:100616132;WGT=1;VC=SNV;PM;NSM;REF;R5;OTHERKG;LSD;OM;CLNALLE=1;CLNHGVS=NC_000017.10:g.37880997G>A;CLNSRC=OMIM Allelic Variant;CLNORIGIN=2;CLNSRCID=164870.0007;CLNSIG=255;CLNDSDB=.;CLNDSDBID=.;CLNDBN=Gastric cancer\x2c somatic;CLNACC=RCV000014893.1 +17 37881000 rs121913471 G T . . RSPOS=37881000;dbSNPBuildID=133;SSR=0;SAO=3;VP=050060020a01000002100120;GENEINFO=ERBB2:2064|MIR4728:100616132;WGT=1;VC=SNV;PM;NSM;REF;R5;OTHERKG;LSD;CLNALLE=1;CLNHGVS=NC_000017.10:g.37881000G>T;CLNSRC=.;CLNORIGIN=2;CLNSRCID=.;CLNSIG=255;CLNDSDB=.;CLNDSDBID=.;CLNDBN=.;CLNACC=. +17 37881299 rs104886007 C T . . RSPOS=37881299;dbSNPBuildID=132;SSR=0;SAO=3;VP=0500600a0001000002110120;GENEINFO=ERBB2:2064|MIR4728:100616132;WGT=1;VC=SNV;PM;INT;R5;OTHERKG;LSD;OM;CLNALLE=1;CLNHGVS=NC_000017.10:g.37881299C>T;CLNSRC=.;CLNORIGIN=2;CLNSRCID=.;CLNSIG=255;CLNDSDB=.;CLNDSDBID=.;CLNDBN=.;CLNACC=. +17 37881314 rs104886008 C T . . RSPOS=37881314;dbSNPBuildID=132;SSR=0;SAO=3;VP=050060020301000002110120;GENEINFO=ERBB2:2064|MIR4728:100616132;WGT=1;VC=SNV;PM;REF;SYN;R5;OTHERKG;LSD;OM;CLNALLE=1;CLNHGVS=NC_000017.10:g.37881314C>T;CLNSRC=.;CLNORIGIN=2;CLNSRCID=.;CLNSIG=255;CLNDSDB=.;CLNDSDBID=.;CLNDBN=.;CLNACC=. +17 37881328 rs104886011 G A . . RSPOS=37881328;dbSNPBuildID=132;SSR=0;SAO=3;VP=050060020301000002110120;GENEINFO=ERBB2:2064|MIR4728:100616132;WGT=1;VC=SNV;PM;REF;SYN;R5;OTHERKG;LSD;OM;CLNALLE=1;CLNHGVS=NC_000017.10:g.37881328G>A;CLNSRC=.;CLNORIGIN=2;CLNSRCID=.;CLNSIG=255;CLNDSDB=.;CLNDSDBID=.;CLNDBN=.;CLNACC=. +17 37881343 rs137852788 C T . . RSPOS=37881343;dbSNPBuildID=133;SSR=0;SAO=3;VP=050060020301000002110120;GENEINFO=ERBB2:2064|MIR4728:100616132;WGT=1;VC=SNV;PM;REF;SYN;R5;OTHERKG;LSD;OM;CLNALLE=1;CLNHGVS=NC_000017.10:g.37881343C>T;CLNSRC=.;CLNORIGIN=2;CLNSRCID=.;CLNSIG=255;CLNDSDB=.;CLNDSDBID=.;CLNDBN=.;CLNACC=. +17 37881376 rs104886009 C T . . RSPOS=37881376;dbSNPBuildID=132;SSR=0;SAO=3;VP=050060020301000002110120;GENEINFO=ERBB2:2064|MIR4728:100616132;WGT=1;VC=SNV;PM;REF;SYN;R5;OTHERKG;LSD;OM;CLNALLE=1;CLNHGVS=NC_000017.10:g.37881376C>T;CLNSRC=.;CLNORIGIN=2;CLNSRCID=.;CLNSIG=255;CLNDSDB=.;CLNDSDBID=.;CLNDBN=.;CLNACC=. +17 37881378 rs28933370 A G . . RSPOS=37881378;dbSNPBuildID=126;SSR=0;SAO=1;VP=050060020a01040402110100;GENEINFO=ERBB2:2064|MIR4728:100616132;WGT=1;VC=SNV;PM;NSM;REF;R5;VLD;HD;OTHERKG;LSD;OM;CLNALLE=1;CLNHGVS=NC_000017.10:g.37881378A>G;CLNSRC=OMIM Allelic Variant;CLNORIGIN=1;CLNSRCID=164870.0008;CLNSIG=255;CLNDSDB=.;CLNDSDBID=.;CLNDBN=Ovarian cancer\x2c somatic;CLNACC=RCV000014894.1 +17 37881413 rs104886010 C T . . RSPOS=37881413;dbSNPBuildID=132;SSR=0;SAO=3;VP=050060020301000002110120;GENEINFO=ERBB2:2064|MIR4728:100616132;WGT=1;VC=SNV;PM;REF;SYN;R5;OTHERKG;LSD;OM;CLNALLE=1;CLNHGVS=NC_000017.10:g.37881413C>T;CLNSRC=.;CLNORIGIN=2;CLNSRCID=.;CLNSIG=255;CLNDSDB=.;CLNDSDBID=.;CLNDBN=.;CLNACC=. +18 48591891 rs121912581 G A . . RSPOS=48591891;dbSNPBuildID=133;SSR=0;SAO=1;VP=050260000a01000002110100;GENEINFO=SMAD4:4089;WGT=1;VC=SNV;PM;S3D;NSM;REF;OTHERKG;LSD;OM;CLNALLE=1;CLNHGVS=NC_000018.9:g.48591891G>A;CLNSRC=.;CLNORIGIN=1;CLNSRCID=.;CLNSIG=5;CLNDSDB=.;CLNDSDBID=.;CLNDBN=JP and JP/HHT;CLNACC=RCV000021707.1 +18 48591909 rs121912576 G T . . RSPOS=48591909;dbSNPBuildID=133;SSR=0;SAO=1;VP=050260000601000002110100;GENEINFO=SMAD4:4089;WGT=1;VC=SNV;PM;S3D;NSN;REF;OTHERKG;LSD;OM;CLNALLE=1;CLNHGVS=NC_000018.9:g.48591909G>T;CLNSRC=OMIM Allelic Variant;CLNORIGIN=1;CLNSRCID=600993.0001;CLNSIG=255;CLNDSDB=.;CLNDSDBID=.;CLNDBN=Pancreatic carcinoma\x2c somatic;CLNACC=RCV000009062.1 +18 48591918 rs80338963 C T . . RSPOS=48591918;dbSNPBuildID=131;SSR=0;SAO=1;VP=050368000a01000002110100;GENEINFO=SMAD4:4089;WGT=1;VC=SNV;PM;PMC;S3D;SLO;NSM;REF;OTHERKG;LSD;OM;CLNALLE=1;CLNHGVS=NC_000018.9:g.48591918C>T;CLNSRC=GeneReviews|OMIM Allelic Variant;CLNORIGIN=1;CLNSRCID=NBK1469|600993.0008;CLNSIG=5|5|5;CLNDSDB=GeneReviews:NCBI:OMIM:OMIM:Orphanet:SNOMED CT|GeneReviews:NCBI:OMIM:Orphanet|.;CLNDSDBID=NBK1469:C0345893:174900:C1868081:2929:9273005|NBK1351:C1832942:175050:2929|.;CLNDBN=Juvenile polyposis syndrome|Juvenile polyposis/hereditary hemorrhagic telangiectasia syndrome|JP\x2c JP/HHT\x2c and HHT;CLNACC=RCV000009071.1|RCV000009072.1|RCV000021711.1 +18 48593406 rs121912580 G A . . RSPOS=48593406;dbSNPBuildID=133;SSR=0;SAO=1;VP=050260000a01000002110100;GENEINFO=SMAD4:4089;WGT=1;VC=SNV;PM;S3D;NSM;REF;OTHERKG;LSD;OM;CLNALLE=1;CLNHGVS=NC_000018.9:g.48593406G>A;CLNSRC=OMIM Allelic Variant;CLNORIGIN=1;CLNSRCID=600993.0010;CLNSIG=5;CLNDSDB=GeneReviews:NCBI:OMIM:Orphanet;CLNDSDBID=NBK1351:C1832942:175050:2929;CLNDBN=Juvenile polyposis/hereditary hemorrhagic telangiectasia syndrome;CLNACC=RCV000009074.1 +18 48593411 rs80338964 C T . . RSPOS=48593411;dbSNPBuildID=131;SSR=0;SAO=1;VP=050368000601000002110100;GENEINFO=SMAD4:4089;WGT=1;VC=SNV;PM;PMC;S3D;SLO;NSN;REF;OTHERKG;LSD;OM;CLNALLE=1;CLNHGVS=NC_000018.9:g.48593411C>T;CLNSRC=GeneReviews;CLNORIGIN=0;CLNSRCID=NBK1469;CLNSIG=5|5;CLNDSDB=GeneReviews:NCBI:OMIM:OMIM:Orphanet:SNOMED CT|GeneReviews:NCBI:OMIM:OMIM:Orphanet:SNOMED CT;CLNDSDBID=NBK1469:C0345893:174900:C1868081:2929:9273005|NBK1469:C0345893:174900:C1868081:2929:9273005;CLNDBN=Juvenile polyposis syndrome|Juvenile polyposis syndrome;CLNACC=RCV000020633.1|RCV000021723.1 +18 48593485 rs121912577 C G . . RSPOS=48593485;dbSNPBuildID=133;SSR=0;SAO=1;VP=050260000601000002110100;GENEINFO=SMAD4:4089;WGT=1;VC=SNV;PM;S3D;NSN;REF;OTHERKG;LSD;OM;CLNALLE=1;CLNHGVS=NC_000018.9:g.48593485C>G;CLNSRC=.;CLNORIGIN=1;CLNSRCID=.;CLNSIG=5;CLNDSDB=GeneReviews:NCBI:OMIM:OMIM:Orphanet:SNOMED CT;CLNDSDBID=NBK1469:C0345893:174900:C1868081:2929:9273005;CLNDBN=Juvenile polyposis syndrome;CLNACC=RCV000021726.1 +18 48593492 rs80338965 GACAG G . . RSPOS=48593493;dbSNPBuildID=131;SSR=0;SAO=0;VP=050168001201000002110200;GENEINFO=SMAD4:4089;WGT=1;VC=DIV;PM;PMC;SLO;NSF;REF;OTHERKG;LSD;OM;CLNALLE=1;CLNHGVS=NC_000018.9:g.48593493_48593496delACAG;CLNSRC=GeneReviews;CLNORIGIN=0;CLNSRCID=NBK1469;CLNSIG=5;CLNDSDB=GeneReviews:NCBI:OMIM:OMIM:Orphanet:SNOMED CT;CLNDSDBID=NBK1469:C0345893:174900:C1868081:2929:9273005;CLNDBN=Juvenile polyposis syndrome;CLNACC=RCV000020634.1 +18 48604655 rs121912578 G C . . RSPOS=48604655;dbSNPBuildID=133;SSR=0;SAO=1;VP=050260000a01000002110100;GENEINFO=SMAD4:4089;WGT=1;VC=SNV;PM;S3D;NSM;REF;OTHERKG;LSD;OM;CLNALLE=1;CLNHGVS=NC_000018.9:g.48604655G>C;CLNSRC=OMIM Allelic Variant;CLNORIGIN=1;CLNSRCID=600993.0003;CLNSIG=255;CLNDSDB=.;CLNDSDBID=.;CLNDBN=Pancreatic carcinoma\x2c somatic;CLNACC=RCV000009064.1 +18 48604721 rs121912579 A T . . RSPOS=48604721;dbSNPBuildID=133;SSR=0;SAO=1;VP=050260000601000002110100;GENEINFO=SMAD4:4089;WGT=1;VC=SNV;PM;S3D;NSN;REF;OTHERKG;LSD;OM;CLNALLE=1;CLNHGVS=NC_000018.9:g.48604721A>T;CLNSRC=OMIM Allelic Variant;CLNORIGIN=1;CLNSRCID=600993.0004;CLNSIG=255;CLNDSDB=.;CLNDSDBID=.;CLNDBN=Pancreatic carcinoma\x2c somatic;CLNACC=RCV000009065.1 +19 1207020 rs137853079 C A . . RSPOS=1207020;dbSNPBuildID=133;SSR=0;SAO=1;VP=050060000601000002110100;GENEINFO=STK11:6794;WGT=1;VC=SNV;PM;NSN;REF;OTHERKG;LSD;OM;CLNALLE=1;CLNHGVS=NC_000019.9:g.1207020C>A;CLNSRC=OMIM Allelic Variant;CLNORIGIN=1;CLNSRCID=602216.0015;CLNSIG=5;CLNDSDB=.;CLNDSDBID=.;CLNDBN=Pancreatic cancer\x2c sporadic;CLNACC=RCV000007878.1 +19 1207021 rs121913324 C T . . RSPOS=1207021;dbSNPBuildID=133;SSR=0;SAO=3;VP=050060000601000002100120;GENEINFO=STK11:6794;WGT=1;VC=SNV;PM;NSN;REF;OTHERKG;LSD;CLNALLE=1;CLNHGVS=NC_000019.9:g.1207021C>T;CLNSRC=.;CLNORIGIN=2;CLNSRCID=.;CLNSIG=255;CLNDSDB=.;CLNDSDBID=.;CLNDBN=.;CLNACC=. +19 1207057 rs137853080 T G . . RSPOS=1207057;dbSNPBuildID=133;SSR=0;SAO=1;VP=050260000a01000002110100;GENEINFO=STK11:6794;WGT=1;VC=SNV;PM;S3D;NSM;REF;OTHERKG;LSD;OM;CLNALLE=1;CLNHGVS=NC_000019.9:g.1207057T>G;CLNSRC=OMIM Allelic Variant;CLNORIGIN=1;CLNSRCID=602216.0019;CLNSIG=5;CLNDSDB=.;CLNDSDBID=.;CLNDBN=Melanoma\x2c sporadic malignant;CLNACC=RCV000007882.1 +19 1207076 rs121913319 TG T . . RSPOS=1207081;dbSNPBuildID=133;SSR=0;SAO=0;VP=050060001201000002100200;GENEINFO=STK11:6794;WGT=1;VC=DIV;PM;NSF;REF;OTHERKG;LSD;CLNALLE=1;CLNHGVS=NC_000019.9:g.1207081delG;CLNSRC=.;CLNORIGIN=2;CLNSRCID=.;CLNSIG=255;CLNDSDB=.;CLNDSDBID=.;CLNDBN=.;CLNACC=. +19 1207081 rs137854584 G T . . RSPOS=1207081;dbSNPBuildID=133;SSR=0;SAO=1;VP=050260000601000002110100;GENEINFO=STK11:6794;WGT=1;VC=SNV;PM;S3D;NSN;REF;OTHERKG;LSD;OM;CLNALLE=1;CLNHGVS=NC_000019.9:g.1207081G>T;CLNSRC=OMIM Allelic Variant;CLNORIGIN=1;CLNSRCID=602216.0010;CLNSIG=5;CLNDSDB=GeneReviews:NCBI:OMIM:Orphanet:SNOMED CT;CLNDSDBID=NBK1266:C0031269:175200:2869:54411001;CLNDBN=Peutz-Jeghers syndrome;CLNACC=RCV000007873.1 +19 1207112 rs137853077 T C . . RSPOS=1207112;dbSNPBuildID=133;SSR=0;SAO=1;VP=050260000a01000002110100;GENEINFO=STK11:6794;WGT=1;VC=SNV;PM;S3D;NSM;REF;OTHERKG;LSD;OM;CLNALLE=1;CLNHGVS=NC_000019.9:g.1207112T>C;CLNSRC=OMIM Allelic Variant;CLNORIGIN=1;CLNSRCID=602216.0008;CLNSIG=5;CLNDSDB=GeneReviews:NCBI:OMIM:Orphanet:SNOMED CT;CLNDSDBID=NBK1266:C0031269:175200:2869:54411001;CLNDBN=Peutz-Jeghers syndrome;CLNACC=RCV000007871.1 +19 1207162 rs137853076 A T . . RSPOS=1207162;dbSNPBuildID=133;SSR=0;SAO=1;VP=050260000601000002110100;GENEINFO=STK11:6794;WGT=1;VC=SNV;PM;S3D;NSN;REF;OTHERKG;LSD;OM;CLNALLE=1;CLNHGVS=NC_000019.9:g.1207162A>T;CLNSRC=OMIM Allelic Variant;CLNORIGIN=1;CLNSRCID=602216.0006;CLNSIG=5;CLNDSDB=GeneReviews:NCBI:OMIM:Orphanet:SNOMED CT;CLNDSDBID=NBK1266:C0031269:175200:2869:54411001;CLNDBN=Peutz-Jeghers syndrome;CLNACC=RCV000007869.1 +19 1220487 rs121913315 G A,T . . RSPOS=1220487;dbSNPBuildID=133;SSR=0;SAO=3;VP=050260000a01000002110120;GENEINFO=STK11:6794;WGT=1;VC=SNV;PM;S3D;NSM;REF;OTHERKG;LSD;OM;CLNALLE=1,2;CLNHGVS=NC_000019.9:g.1220487G>A,NC_000019.9:g.1220487G>T;CLNSRC=.,OMIM Allelic Variant;CLNORIGIN=2,1;CLNSRCID=.,602216.0013;CLNSIG=255,5;CLNDSDB=.,.;CLNDSDBID=.,.;CLNDBN=.,Melanoma\x2c sporadic malignant;CLNACC=.,RCV000007876.1 +19 1220488 rs121913316 A T . . RSPOS=1220488;dbSNPBuildID=133;SSR=0;SAO=3;VP=050260000a01000002100120;GENEINFO=STK11:6794;WGT=1;VC=SNV;PM;S3D;NSM;REF;OTHERKG;LSD;CLNALLE=1;CLNHGVS=NC_000019.9:g.1220488A>T;CLNSRC=.;CLNORIGIN=2;CLNSRCID=.;CLNSIG=255;CLNDSDB=.;CLNDSDBID=.;CLNDBN=.;CLNACC=. +19 1220502 rs121913317 G A,T . . RSPOS=1220502;dbSNPBuildID=133;SSR=0;SAO=3;VP=050260000e01000002100120;GENEINFO=STK11:6794;WGT=1;VC=SNV;PM;S3D;NSM;NSN;REF;OTHERKG;LSD;CLNALLE=1,2;CLNHGVS=NC_000019.9:g.1220502G>A,NC_000019.9:g.1220502G>T;CLNSRC=.,.;CLNORIGIN=2,2;CLNSRCID=.,.;CLNSIG=255,255;CLNDSDB=.,.;CLNDSDBID=.,.;CLNDBN=.,.;CLNACC=.,. +19 1221236 rs137853075 C A . . RSPOS=1221236;dbSNPBuildID=133;SSR=0;SAO=1;VP=050260000601000002110100;GENEINFO=STK11:6794;WGT=1;VC=SNV;PM;S3D;NSN;REF;OTHERKG;LSD;OM;CLNALLE=1;CLNHGVS=NC_000019.9:g.1221236C>A;CLNSRC=OMIM Allelic Variant;CLNORIGIN=1;CLNSRCID=602216.0002;CLNSIG=5;CLNDSDB=GeneReviews:NCBI:OMIM:Orphanet:SNOMED CT;CLNDSDBID=NBK1266:C0031269:175200:2869:54411001;CLNDBN=Peutz-Jeghers syndrome;CLNACC=RCV000007865.1 +19 1221263 rs121913320 GTTGT G . . RSPOS=1221264;dbSNPBuildID=133;SSR=0;SAO=0;VP=050060001201000002100200;GENEINFO=STK11:6794;WGT=1;VC=DIV;PM;NSF;REF;OTHERKG;LSD;CLNALLE=1;CLNHGVS=NC_000019.9:g.1221264_1221267delTTGT;CLNSRC=.;CLNORIGIN=2;CLNSRCID=.;CLNSIG=255;CLNDSDB=.;CLNDSDBID=.;CLNDBN=.;CLNACC=. +19 1221313 rs121913321 GC G . . RSPOS=1221319;dbSNPBuildID=133;SSR=0;SAO=0;VP=050060001201000002100200;GENEINFO=STK11:6794;WGT=1;VC=DIV;PM;NSF;REF;OTHERKG;LSD;CLNALLE=1;CLNHGVS=NC_000019.9:g.1221319delC;CLNSRC=.;CLNORIGIN=2;CLNSRCID=.;CLNSIG=255;CLNDSDB=.;CLNDSDBID=.;CLNDBN=.;CLNACC=. +19 1221319 rs121913322 C T . . RSPOS=1221319;GMAF=0.0018;dbSNPBuildID=133;SSR=0;SAO=3;VP=050260000a01000016100120;GENEINFO=STK11:6794;WGT=1;VC=SNV;PM;S3D;NSM;REF;KGPhase1;KGPROD;OTHERKG;LSD;CLNALLE=1;CLNHGVS=NC_000019.9:g.1221319C>T;CLNSRC=.;CLNORIGIN=2;CLNSRCID=.;CLNSIG=255;CLNDSDB=.;CLNDSDBID=.;CLNDBN=.;CLNACC=. +19 1223059 rs121913325 G A . . RSPOS=1223059;dbSNPBuildID=133;SSR=0;SAO=3;VP=050260000601000002100120;GENEINFO=STK11:6794;WGT=1;VC=SNV;PM;S3D;NSN;REF;OTHERKG;LSD;CLNALLE=1;CLNHGVS=NC_000019.9:g.1223059G>A;CLNSRC=.;CLNORIGIN=2;CLNSRCID=.;CLNSIG=255;CLNDSDB=.;CLNDSDBID=.;CLNDBN=.;CLNACC=. +19 1223125 rs59912467 C G . . RSPOS=1223125;GMAF=0.0128;dbSNPBuildID=129;SSR=0;SAO=1;VP=050060000a01170416110100;GENEINFO=STK11:6794;WGT=1;VC=SNV;PM;NSM;REF;VLD;G5A;G5;HD;KGPhase1;KGPROD;OTHERKG;LSD;OM;CLNALLE=1;CLNHGVS=NC_000019.9:g.1223125C>G;CLNSRC=OMIM Allelic Variant;CLNORIGIN=1;CLNSRCID=602216.0024;CLNSIG=5;CLNDSDB=GeneReviews:NCBI:OMIM:Orphanet:SNOMED CT;CLNDSDBID=NBK1266:C0031269:175200:2869:54411001;CLNDBN=Peutz-Jeghers syndrome;CLNACC=RCV000007887.1 +19 17945696 rs3213409 C T . . RSPOS=17945696;RV;GMAF=0.0037;dbSNPBuildID=106;SSR=0;SAO=3;VP=050268000a01050517100121;GENEINFO=JAK3:3718;WGT=1;VC=SNV;PM;PMC;S3D;NSM;REF;VLD;G5;HD;GNO;KGPhase1;KGPROD;OTHERKG;PH3;LSD;GCF;CLNALLE=1;CLNHGVS=NC_000019.9:g.17945696C>T;CLNSRC=.;CLNORIGIN=2;CLNSRCID=.;CLNSIG=255;CLNDSDB=.;CLNDSDBID=.;CLNDBN=.;CLNACC=. +19 17948009 rs121913504 G A . . RSPOS=17948009;RV;dbSNPBuildID=133;SSR=0;SAO=3;VP=050260000a01000002100120;GENEINFO=JAK3:3718;WGT=1;VC=SNV;PM;S3D;NSM;REF;OTHERKG;LSD;CLNALLE=1;CLNHGVS=NC_000019.9:g.17948009G>A;CLNSRC=.;CLNORIGIN=2;CLNSRCID=.;CLNSIG=255;CLNDSDB=.;CLNDSDBID=.;CLNDBN=.;CLNACC=. +20 36031762 rs121913314 C T . . RSPOS=36031762;dbSNPBuildID=133;SSR=0;SAO=3;VP=050260000601000002110120;GENEINFO=SRC:6714;WGT=1;VC=SNV;PM;S3D;NSN;REF;OTHERKG;LSD;OM;CLNALLE=1;CLNHGVS=NC_000020.10:g.36031762C>T;CLNSRC=OMIM Allelic Variant;CLNORIGIN=1;CLNSRCID=190090.0001;CLNSIG=5;CLNDSDB=.;CLNDSDBID=.;CLNDBN=Colon cancer\x2c advanced;CLNACC=RCV000013401.1 +20 57484421 rs121913495 G A . . RSPOS=57484421;dbSNPBuildID=133;SSR=0;SAO=3;VP=050260800a01000002110120;GENEINFO=GNAS:2778;WGT=1;VC=SNV;PM;S3D;NSM;REF;U3;OTHERKG;LSD;OM;CLNALLE=1;CLNHGVS=NC_000020.10:g.57484421G>A;CLNSRC=OMIM Allelic Variant;CLNORIGIN=1;CLNSRCID=139320.0009;CLNSIG=255|255|255|255;CLNDSDB=NCBI|.|.|.;CLNDSDBID=CN071115|.|.|.;CLNDBN=McCune-Albright syndrome\x2c somatic\x2c mosaic|Pituitary tumor\x2c growth hormone-secreting\x2c somatic|Acth-independent macronodular adrenal hyperplasia\x2c somatic|Sex cord stromal tumor\x2c somatic;CLNACC=RCV000017290.1|RCV000017291.1|RCV000017292.1|RCV000017293.1 diff -r e7de191375e6 -r 73eda23fb8fd tool_dependencies.xml --- a/tool_dependencies.xml Thu Jan 08 06:18:04 2015 -0500 +++ b/tool_dependencies.xml Wed Feb 25 08:50:56 2015 -0500 @@ -2,7 +2,7 @@ - +