From 96e9a6b2ac9913fa0bb0a62063f13d2df4190c15 Mon Sep 17 00:00:00 2001
From: Jonn Smith <jonn@broadinstitute.org>
Date: Thu, 15 Nov 2018 16:34:03 -0500
Subject: [PATCH 1/2] Added in a single script to create a gencode data source.

Updated the run_oncotator_VCF_in.sh script to point at the new
regression test data source locations by default.
---
 ...eateSimpleGencodeDataSourceFromVariants.sh | 230 ++++++++++++++++++
 .../testing/run_oncotator_VCF_in.sh           |   6 +-
 2 files changed, 233 insertions(+), 3 deletions(-)
 create mode 100755 scripts/funcotator/testing/createSimpleGencodeDataSourceFromVariants.sh

diff --git a/scripts/funcotator/testing/createSimpleGencodeDataSourceFromVariants.sh b/scripts/funcotator/testing/createSimpleGencodeDataSourceFromVariants.sh
new file mode 100755
index 00000000000..d8165f059b4
--- /dev/null
+++ b/scripts/funcotator/testing/createSimpleGencodeDataSourceFromVariants.sh
@@ -0,0 +1,230 @@
+#!/usr/bin/env bash
+
+################################################################################
+#
+# WARNING: THIS SCRIPT IS UNSUPPORTED!
+# USE AT YOUR OWN RISK
+#
+# DESCRIPTION:
+#
+# This script will create a simple Gencode data source for all the variants 
+# in a given VCF file.
+# You will have to index the fasta and feature files created by this as well as
+# create sequence dictionaries for them.
+# It must be internally configured to point at a valid funcotatior data sources
+# directory, and will not work for you out-of-the-box unless you are Jonn Smith.
+#
+# EXAMPLE:
+#     ./createSimpleGencodeDataSourceFromVariants.sh hg19 TEST.VCF
+#
+# AUTHOR: Jonn Smith
+#
+###############################################################################
+
+#Setup variables for the script:
+UNALIASED_SCRIPT_NAME=$( readlink "${BASH_SOURCE[0]}" || echo "${BASH_SOURCE[0]}" )
+SCRIPTDIR="$( cd "$( dirname "${UNALIASED_SCRIPT_NAME}" )" && pwd )"
+SCRIPTNAME=$( echo $0 | sed 's#.*/##g' )
+MINARGS=2
+MAXARGS=99
+
+################################################################################
+
+# Change this path to your data sources directory:
+DATA_SOURCES_PATH=/Users/jonn/Development/funcotator_dataSources_latest
+
+GENCODE_PATH=${DATA_SOURCES_PATH}/gencode
+GENCODE_HG19=${GENCODE_PATH}/hg19
+GENCODE_HG38=${GENCODE_PATH}/hg38
+GENCODE_HG19_GTF=${GENCODE_HG19}/gencode.v19.annotation.REORDERED.gtf
+GENCODE_HG38_GTF=${GENCODE_HG38}/gencode.v28.annotation.REORDERED.gtf
+GENCODE_HG19_TX=${GENCODE_HG19}/gencode.v19.pc_transcripts.fa
+GENCODE_HG38_TX=${GENCODE_HG38}/gencode.v28.pc_transcripts.fa
+GENCODE_HG19_VERSION=19
+GENCODE_HG38_VERSION=28
+
+OUT_FOLDER=tmp_gencode
+
+################################################################################
+
+function simpleUsage()
+{
+  echo -e "Usage: $SCRIPTNAME REFVERSION VCFFILE [VCFFILE2 VCFFILE3 ...]"
+  echo -e "Create a simple Gencode data source for all variants in "
+  echo -e "each given VCFFILE."
+}
+
+#Define a usage function:
+function usage() 
+{
+  simpleUsage
+  echo -e ""
+  echo -e "VCFFILE       A VCF File containing variants for which to look up the genes in Gencode."
+  echo -e "REFVERSION    The reference version in which to look up variants." 
+  echo -e "              Must be one of:"
+  echo -e "                hg19"
+  echo -e "                hg38"
+  echo -e ""
+  echo -e "Return values:"
+  echo -e "  0  NORMAL"
+  echo -e "  1  TOO MANY ARGUMENTS"
+  echo -e "  2  TOO FEW ARGUMENTS"
+  echo -e "  3  VCF FILE DOES NOT EXIST" 
+  echo -e "  4  INVALID REFERENCE VERSION" 
+  echo -e ""
+}
+
+
+#Display a message to std error:
+function error() 
+{
+  echo "$1" 1>&2 
+}
+
+TMPFILELIST=''
+function makeTemp()
+{
+  local f
+  f=$( mktemp )
+  TMPFILELIST="${TMPFILELIST} $f"
+  echo $f
+}
+
+function cleanTempVars()
+{
+  rm -f ${TMPFILELIST}
+}
+
+function at_exit()
+{
+  cleanTempVars
+}
+
+################################################################################
+
+trap at_exit EXIT 
+
+################################################################################
+
+function getGeneList() {
+	grep '\tgene\t' $GENCODE 
+}
+
+################################################################################
+
+#Check given arguments:
+if [[ $# -gt $MAXARGS ]] ; then
+  usage
+  exit 1
+elif [[ $# -lt $MINARGS ]] ; then
+  usage
+  exit 2
+fi
+
+################################################################################
+
+[[ -e ${OUT_FOLDER} ]] && error "Output folder already exists: ${OUT_FOLDER}" && exit 8
+
+REF=$( echo $1 | tr '[:upper:]' '[:lower:]' )
+[[ "${REF}" != "hg19" ]] && [[ "${REF}" != "hg38" ]] && error "Invalid reference version: ${REF}" && exit 4
+shift
+
+VCFFILENAMESLIST=$(makeTemp)
+while [ $# -gt 0 ] ; do
+	VCFFILE=$1
+	[[ ! -f ${VCFFILE} ]] && error "VCF File does not exist: ${VCFFILE}" && exit 3
+	echo "${VCFFILE}" >> ${VCFFILENAMESLIST}
+	shift
+done
+
+################################################################################
+# Make sure we point at the right gencode:
+GENCODE="$GENCODE_HG19_GTF"
+GENCODE_TX="$GENCODE_HG19_TX"
+GENCODE_VERSION="$GENCODE_HG19_VERSION"
+if [[ "${REF}" == "hg38" ]] ;then 
+	GENCODE="$GENCODE_HG38_GTF"
+	GENCODE_TX="$GENCODE_HG38_TX"
+	GENCODE_VERSION="$GENCODE_HG38_VERSION"
+fi
+
+################################################################################
+# Set up our output:
+mkdir -p ${OUT_FOLDER}/${REF}
+OUT_GTF_FILE=${OUT_FOLDER}/${REF}/gencode.v${GENCODE_VERSION}.testVariantSubset.gtf
+OUT_TX_FILE=${OUT_FOLDER}/${REF}/gencode.v${GENCODE_VERSION}.testVariantSubset.pc_transcripts.fa
+sed -e "s#src_file =.*#src_file = gencode.v${GENCODE_VERSION}.testVariantSubset.gtf#g" \
+	  -e "s#gencode_fasta_path =.*#gencode_fasta_path = gencode.v${GENCODE_VERSION}.testVariantSubset.pc_transcripts.fa#g" \
+		-e "s#preprocessing_script =\\(.*\\)#preprocessing_script =\\$1 , ${SCRIPTNAME}#g" \
+		${GENCODE_HG19}/gencode.config > ${OUT_FOLDER}/${REF}/gencode.config
+
+tmpFile=$( makeTemp )	
+tmpGeneList=$( makeTemp )
+tmpGeneIdList=$( makeTemp )
+
+# Get our list of genes:
+while read VCFFILE ; do 
+
+	error "Processing ${VCFFILE} ..."
+
+	# Filter out the commented out lines:
+	rm -f ${tmpFile}
+	grep -v '^#' ${VCFFILE} > $tmpFile
+
+	# Go through our VCF file:
+	error "  Getting gene info for variants ..."
+	while read line ; do 
+		CONTIG=$( echo "${line}" | awk '{print $1}' )
+		if [[ $CONTIG != chr*  ]] && [[ "${REF}" == "hg19" ]] ; then 
+			CONTIG="chr${CONTIG}"
+		fi
+		START=$( echo "${line}" | awk '{print $2}' )
+		${SCRIPTDIR}/getGeneFromGenomicCoordinates.sh ${REF} ${CONTIG} ${START} ${START} 
+	done < ${tmpFile} | uniq 
+
+done < ${VCFFILENAMESLIST} | sort -k1.4n -k1,1 -k4,4n -k5,5n | uniq > ${tmpGeneList}
+error "Done"
+
+# Create a clean place to put our gene list:
+rm -f ${tmpGeneIdList}
+awk '{print $10}' ${tmpGeneList} | tr -d ';"' > ${tmpGeneIdList}
+
+totalGenes=$( cat ${tmpGeneIdList} | sort | uniq | wc -l | awk '{print $1}' )
+uniqueGeneIdList=$( makeTemp )
+
+# Process the gencode fasta file:
+transcriptFile=$( makeTemp )
+${SCRIPTDIR}/reformatFastaSequencesToOneLine.sh ${GENCODE_TX} > ${transcriptFile}
+
+# Get our gencode header:
+head -n5 ${GENCODE} > ${OUT_GTF_FILE}
+
+# Grep for each gene ID in our gencode file:
+i=0
+error "Retrieving genes and sequences from GENCODE ..."
+while read geneId ; do 
+
+	# make sure we only add each gene once:
+	grep -m1 "${geneId}" ${uniqueGeneIdList} &> /dev/null
+	r=$?
+	[[ $r -eq 0 ]] && continue
+
+	# Arcane awk statement adapted from https://backreference.org/2010/09/11/smart-ranges-in-awk/
+	# and https://backreference.org/2010/09/11/smart-ranges-in-awk/
+	# Essentially uses a flag to determine whether to print matches and when the flag is no longer
+	# true it will exit.
+	BANG=!
+	awk "${BANG}/${geneId}/{if (p == 1){exit} else{p=0}} /${geneId}/{p=1} p" ${GENCODE} >> ${OUT_GTF_FILE}
+
+	# Get the sequence here:
+	grep -A1 "${geneId}" ${transcriptFile} | grep -v '^--' >> ${OUT_TX_FILE}
+	
+	let i=$i+1
+	error "  Processed gene $i of $totalGenes ($geneId)"
+	echo "${geneId}" >> ${uniqueGeneIdList}
+
+done < ${tmpGeneIdList}
+error "Done"
+
+error "You must index the created feature and fasta files, as well as create a sequence dictionary for the output fasta."
+
diff --git a/scripts/funcotator/testing/run_oncotator_VCF_in.sh b/scripts/funcotator/testing/run_oncotator_VCF_in.sh
index 2175e39a583..7c19c5ba61c 100755
--- a/scripts/funcotator/testing/run_oncotator_VCF_in.sh
+++ b/scripts/funcotator/testing/run_oncotator_VCF_in.sh
@@ -33,10 +33,10 @@ ALL_DB="/Users/jonn/Development/oncotator_v1_ds_April052016/"
 QUICK_DB="~/Development/oncotator_testing/dbdir/"
 FUNCOTATOR_EQUIVALENT_DB="~/Development/oncotator_testing/funcotator_dbdir/"
 
-VCF_IN="/Users/jonn/Development/gatk/src/test/resources/large/funcotator/regressionTestVariantSet1.vcf"
-#VCF_IN="/Users/jonn/Development/gatk/src/test/resources/large/funcotator/regressionTestVariantSet2.vcf"
+VCF_IN="/Users/jonn/Development/gatk/src/test/resources/org/broadinstitute/hellbender/tools/funcotator/validationTestData/regressionTestVariantSet1.vcf"
+#VCF_IN="/Users/jonn/Development/gatk/src/test/resources/org/broadinstitute/hellbender/tools/funcotator/validationTestData/regressionTestVariantSet2.vcf"
 #VCF_IN="tmp.vcf"
-VCF_IN="/Users/jonn/Development/gatk/src/test/resources/large/funcotator/regressionTestHg19Large.vcf"
+#VCF_IN="/Users/jonn/Development/gatk/src/test/resources/org/broadinstitute/hellbender/tools/funcotator/validationTestData/regressionTestHg19Large.vcf"
 
 source ~/Development/oncotator_venv/bin/activate
 

From a63b7bbe4e64ebc7619159538d518e2a796f240b Mon Sep 17 00:00:00 2001
From: Jonn Smith <jonn@broadinstitute.org>
Date: Fri, 16 Nov 2018 13:08:36 -0500
Subject: [PATCH 2/2] Updated gencode data source to include flanking genes.

- Updated `createSimpleGencodeDataSourceFromVariants.sh` to grab
flanking genes as well as overlapping genes.
---
 ...eateSimpleGencodeDataSourceFromVariants.sh | 155 +++++----
 .../funcotator/FuncotatorTestConstants.java   |   4 +-
 .../gencode/hg19/gencode.config               |   4 +-
 .../gencode.v19.regressionTestVariantSet.gtf  |   3 -
 ...ncode.v19.regressionTestVariantSet.gtf.idx |   3 -
 ...gressionTestVariantSet.pc_transcripts.dict |   3 -
 ...regressionTestVariantSet.pc_transcripts.fa |   3 -
 ...essionTestVariantSet.pc_transcripts.fa.fai |   3 -
 .../hg19/gencode.v19.testVariantSubset.gtf    |   3 +
 .../gencode.v19.testVariantSubset.gtf.idx     |   3 +
 ....v19.testVariantSubset.pc_transcripts.dict |   3 +
 ...de.v19.testVariantSubset.pc_transcripts.fa |   3 +
 ...19.testVariantSubset.pc_transcripts.fa.fai |   3 +
 .../regressionTestHg19Large_expected.maf      | 316 +++++++++---------
 .../regressionTestHg19Large_expected.vcf      | 314 ++++++++---------
 .../regressionTestVariantSet1_expected.maf    |  48 +--
 .../regressionTestVariantSet1_expected.vcf    |  46 +--
 .../regressionTestVariantSet2_expected.maf    |  60 ++--
 .../regressionTestVariantSet2_expected.vcf    |  58 ++--
 .../regressionTestVariantSetHG38_expected.maf |   4 +-
 .../regressionTestVariantSetHG38_expected.vcf |   2 +-
 21 files changed, 537 insertions(+), 504 deletions(-)
 mode change 100755 => 100644 src/test/resources/large/funcotator/funcotator_dataSources/gencode/hg19/gencode.config
 delete mode 100644 src/test/resources/large/funcotator/funcotator_dataSources/gencode/hg19/gencode.v19.regressionTestVariantSet.gtf
 delete mode 100644 src/test/resources/large/funcotator/funcotator_dataSources/gencode/hg19/gencode.v19.regressionTestVariantSet.gtf.idx
 delete mode 100644 src/test/resources/large/funcotator/funcotator_dataSources/gencode/hg19/gencode.v19.regressionTestVariantSet.pc_transcripts.dict
 delete mode 100644 src/test/resources/large/funcotator/funcotator_dataSources/gencode/hg19/gencode.v19.regressionTestVariantSet.pc_transcripts.fa
 delete mode 100644 src/test/resources/large/funcotator/funcotator_dataSources/gencode/hg19/gencode.v19.regressionTestVariantSet.pc_transcripts.fa.fai
 create mode 100644 src/test/resources/large/funcotator/funcotator_dataSources/gencode/hg19/gencode.v19.testVariantSubset.gtf
 create mode 100644 src/test/resources/large/funcotator/funcotator_dataSources/gencode/hg19/gencode.v19.testVariantSubset.gtf.idx
 create mode 100644 src/test/resources/large/funcotator/funcotator_dataSources/gencode/hg19/gencode.v19.testVariantSubset.pc_transcripts.dict
 create mode 100644 src/test/resources/large/funcotator/funcotator_dataSources/gencode/hg19/gencode.v19.testVariantSubset.pc_transcripts.fa
 create mode 100644 src/test/resources/large/funcotator/funcotator_dataSources/gencode/hg19/gencode.v19.testVariantSubset.pc_transcripts.fa.fai

diff --git a/scripts/funcotator/testing/createSimpleGencodeDataSourceFromVariants.sh b/scripts/funcotator/testing/createSimpleGencodeDataSourceFromVariants.sh
index d8165f059b4..0af4bd67ae4 100755
--- a/scripts/funcotator/testing/createSimpleGencodeDataSourceFromVariants.sh
+++ b/scripts/funcotator/testing/createSimpleGencodeDataSourceFromVariants.sh
@@ -43,6 +43,8 @@ GENCODE_HG38_TX=${GENCODE_HG38}/gencode.v28.pc_transcripts.fa
 GENCODE_HG19_VERSION=19
 GENCODE_HG38_VERSION=28
 
+PADDING=5000
+
 OUT_FOLDER=tmp_gencode
 
 ################################################################################
@@ -76,9 +78,22 @@ function usage()
 
 
 #Display a message to std error:
+_startTime=$( python -c 'from time import time; print time()' )
+_lastTime=${_startTime}
+_hasDisplayedBefore=false
+SHOW_TIME_WITH_ERROR=false
 function error() 
 {
-  echo "$1" 1>&2 
+  if $SHOW_TIME_WITH_ERROR ; then
+    local t=$( python -c 'from time import time; print time()' )
+    local dl=$( python -c "print ($t - $_lastTime)" ) 
+    local ds=$( python -c "print ($t - $_startTime)" ) 
+    echo -e "${@}\t[+${dl}s\t+${ds}s]" 1>&2
+    _hasDisplayedBefore=true
+    _lastTime=$t
+  else
+    echo "${@}" 1>&2 
+  fi
 }
 
 TMPFILELIST=''
@@ -89,10 +104,18 @@ function makeTemp()
   TMPFILELIST="${TMPFILELIST} $f"
   echo $f
 }
+function makeTempDir() 
+{
+  local f
+  f=$( mktemp -d )
+  TMPFILELIST="${TMPFILELIST} $f"
+  echo $f
+}
+
 
 function cleanTempVars()
 {
-  rm -f ${TMPFILELIST}
+  rm -rf ${TMPFILELIST}
 }
 
 function at_exit()
@@ -107,7 +130,7 @@ trap at_exit EXIT
 ################################################################################
 
 function getGeneList() {
-	grep '\tgene\t' $GENCODE 
+  grep '\tgene\t' $GENCODE 
 }
 
 ################################################################################
@@ -131,10 +154,10 @@ shift
 
 VCFFILENAMESLIST=$(makeTemp)
 while [ $# -gt 0 ] ; do
-	VCFFILE=$1
-	[[ ! -f ${VCFFILE} ]] && error "VCF File does not exist: ${VCFFILE}" && exit 3
-	echo "${VCFFILE}" >> ${VCFFILENAMESLIST}
-	shift
+  VCFFILE=$1
+  [[ ! -f ${VCFFILE} ]] && error "VCF File does not exist: ${VCFFILE}" && exit 3
+  echo "${VCFFILE}" >> ${VCFFILENAMESLIST}
+  shift
 done
 
 ################################################################################
@@ -143,50 +166,58 @@ GENCODE="$GENCODE_HG19_GTF"
 GENCODE_TX="$GENCODE_HG19_TX"
 GENCODE_VERSION="$GENCODE_HG19_VERSION"
 if [[ "${REF}" == "hg38" ]] ;then 
-	GENCODE="$GENCODE_HG38_GTF"
-	GENCODE_TX="$GENCODE_HG38_TX"
-	GENCODE_VERSION="$GENCODE_HG38_VERSION"
+  GENCODE="$GENCODE_HG38_GTF"
+  GENCODE_TX="$GENCODE_HG38_TX"
+  GENCODE_VERSION="$GENCODE_HG38_VERSION"
 fi
 
 ################################################################################
 # Set up our output:
-mkdir -p ${OUT_FOLDER}/${REF}
-OUT_GTF_FILE=${OUT_FOLDER}/${REF}/gencode.v${GENCODE_VERSION}.testVariantSubset.gtf
-OUT_TX_FILE=${OUT_FOLDER}/${REF}/gencode.v${GENCODE_VERSION}.testVariantSubset.pc_transcripts.fa
+TMP_OUT_DIR=$( makeTempDir )
+mkdir -p ${TMP_OUT_DIR}/${REF}
+OUT_GTF_FILE=${TMP_OUT_DIR}/${REF}/gencode.v${GENCODE_VERSION}.testVariantSubset.gtf
+OUT_TX_FILE=${TMP_OUT_DIR}/${REF}/gencode.v${GENCODE_VERSION}.testVariantSubset.pc_transcripts.fa
 sed -e "s#src_file =.*#src_file = gencode.v${GENCODE_VERSION}.testVariantSubset.gtf#g" \
-	  -e "s#gencode_fasta_path =.*#gencode_fasta_path = gencode.v${GENCODE_VERSION}.testVariantSubset.pc_transcripts.fa#g" \
-		-e "s#preprocessing_script =\\(.*\\)#preprocessing_script =\\$1 , ${SCRIPTNAME}#g" \
-		${GENCODE_HG19}/gencode.config > ${OUT_FOLDER}/${REF}/gencode.config
-
-tmpFile=$( makeTemp )	
-tmpGeneList=$( makeTemp )
-tmpGeneIdList=$( makeTemp )
-
-# Get our list of genes:
-while read VCFFILE ; do 
-
-	error "Processing ${VCFFILE} ..."
-
-	# Filter out the commented out lines:
-	rm -f ${tmpFile}
-	grep -v '^#' ${VCFFILE} > $tmpFile
-
-	# Go through our VCF file:
-	error "  Getting gene info for variants ..."
-	while read line ; do 
-		CONTIG=$( echo "${line}" | awk '{print $1}' )
-		if [[ $CONTIG != chr*  ]] && [[ "${REF}" == "hg19" ]] ; then 
-			CONTIG="chr${CONTIG}"
-		fi
-		START=$( echo "${line}" | awk '{print $2}' )
-		${SCRIPTDIR}/getGeneFromGenomicCoordinates.sh ${REF} ${CONTIG} ${START} ${START} 
-	done < ${tmpFile} | uniq 
-
-done < ${VCFFILENAMESLIST} | sort -k1.4n -k1,1 -k4,4n -k5,5n | uniq > ${tmpGeneList}
-error "Done"
+    -e "s#gencode_fasta_path =.*#gencode_fasta_path = gencode.v${GENCODE_VERSION}.testVariantSubset.pc_transcripts.fa#g" \
+    -e "s#preprocessing_script =\\(.*\\)#preprocessing_script =\\$1 , ${SCRIPTNAME}#g" \
+    ${GENCODE_HG19}/gencode.config > ${TMP_OUT_DIR}/${REF}/gencode.config
+
+tmpGeneList=tmpGeneList.txt
+#tmpGeneList=$( makeTemp )
+tmpGeneIdList=tmpGeneIdList.txt
+#tmpGeneIdList=$( makeTemp )
+
+#masterGeneList=$( makeTemp )
+masterGeneList=masterGeneList.txt
+#masterVcfFile=$( makeTemp )
+masterVcfFile=masterVcfFile.txt
+
+# Set time display on calls to error:
+SHOW_TIME_WITH_ERROR=true
+
+# Create a master list of genes:
+error "Creating master gene list..."
+grep '\tgene\t' ${GENCODE} > ${masterGeneList}
+
+# Create a master list of variants:
+error "Creating master variant list..."
+while read vcfFile ; do
+  error "  Reading variants from ${vcfFile}"
+  grep -v '^#' ${vcfFile}
+done < ${VCFFILENAMESLIST} > ${masterVcfFile}
+
+# Go through each variant and get the gene it's in:
+error "Creating the list of overlapping genes..."
+while read variant ; do
+  CONTIG=$( echo ${variant} | awk '{print $1}' )
+  POS=$( echo ${variant} | awk '{print $2}' )
+  awk "{ if (((\$1 == \"${CONTIG}\") || (\"chr\"\$1 == \"${CONTIG}\" ) || (\$1 == \"chr${CONTIG}\" ) || (\"chr\"\$1 == \"chr${CONTIG}\" )) && ((\$4 - ${PADDING}) <= ${POS}) && ((\$5 + ${PADDING}) >= ${POS})) {print} }" ${masterGeneList} 
+done < ${masterVcfFile} | sort -k1.4n -k1,1 -k4,4n -k5,5n | uniq > ${tmpGeneList}
 
 # Create a clean place to put our gene list:
+error "Creating list of gene IDs..."
 rm -f ${tmpGeneIdList}
+# NOTE: We do not sort the genes here so they stay in contig order:
 awk '{print $10}' ${tmpGeneList} | tr -d ';"' > ${tmpGeneIdList}
 
 totalGenes=$( cat ${tmpGeneIdList} | sort | uniq | wc -l | awk '{print $1}' )
@@ -204,27 +235,29 @@ i=0
 error "Retrieving genes and sequences from GENCODE ..."
 while read geneId ; do 
 
-	# make sure we only add each gene once:
-	grep -m1 "${geneId}" ${uniqueGeneIdList} &> /dev/null
-	r=$?
-	[[ $r -eq 0 ]] && continue
-
-	# Arcane awk statement adapted from https://backreference.org/2010/09/11/smart-ranges-in-awk/
-	# and https://backreference.org/2010/09/11/smart-ranges-in-awk/
-	# Essentially uses a flag to determine whether to print matches and when the flag is no longer
-	# true it will exit.
-	BANG=!
-	awk "${BANG}/${geneId}/{if (p == 1){exit} else{p=0}} /${geneId}/{p=1} p" ${GENCODE} >> ${OUT_GTF_FILE}
-
-	# Get the sequence here:
-	grep -A1 "${geneId}" ${transcriptFile} | grep -v '^--' >> ${OUT_TX_FILE}
-	
-	let i=$i+1
-	error "  Processed gene $i of $totalGenes ($geneId)"
-	echo "${geneId}" >> ${uniqueGeneIdList}
+  # make sure we only add each gene once:
+  grep -m1 "${geneId}" ${uniqueGeneIdList} &> /dev/null
+  r=$?
+  [[ $r -eq 0 ]] && continue
+
+  # Arcane awk statement adapted from https://backreference.org/2010/09/11/smart-ranges-in-awk/
+  # and https://backreference.org/2010/09/11/smart-ranges-in-awk/
+  # Essentially uses a flag to determine whether to print matches and when the flag is no longer
+  # true it will exit.
+  BANG=!
+  awk "${BANG}/${geneId}/{if (p == 1){exit} else{p=0}} /${geneId}/{p=1} p" ${GENCODE} >> ${OUT_GTF_FILE}
+
+  # Get the sequence here:
+  grep -A1 "${geneId}" ${transcriptFile} | grep -v '^--' >> ${OUT_TX_FILE}
+  
+  let i=$i+1
+  error "  Processed gene $i of $totalGenes ($geneId)"
+  echo "${geneId}" >> ${uniqueGeneIdList}
 
 done < ${tmpGeneIdList}
 error "Done"
 
+mv ${TMP_OUT_DIR} ${OUT_FOLDER}
+
 error "You must index the created feature and fasta files, as well as create a sequence dictionary for the output fasta."
 
diff --git a/src/test/java/org/broadinstitute/hellbender/tools/funcotator/FuncotatorTestConstants.java b/src/test/java/org/broadinstitute/hellbender/tools/funcotator/FuncotatorTestConstants.java
index 1bd753567da..358b54f809c 100644
--- a/src/test/java/org/broadinstitute/hellbender/tools/funcotator/FuncotatorTestConstants.java
+++ b/src/test/java/org/broadinstitute/hellbender/tools/funcotator/FuncotatorTestConstants.java
@@ -42,8 +42,8 @@ public class FuncotatorTestConstants {
     public static final String MT_TRANSCRIPT = "ENST00000361567.2";
 
     // Gencode main GTF file:
-    public static final String GENCODE_DATA_SOURCE_GTF_PATH_HG19   = FUNCOTATOR_DATA_SOURCES_MAIN_FOLDER + "gencode" + File.separator + REFERENCE_VERSION_HG19 + File.separator + "gencode.v19.regressionTestVariantSet.gtf";
-    public static final String GENCODE_DATA_SOURCE_FASTA_PATH_HG19 = FUNCOTATOR_DATA_SOURCES_MAIN_FOLDER + "gencode" + File.separator + REFERENCE_VERSION_HG19 + File.separator + "gencode.v19.regressionTestVariantSet.pc_transcripts.fa";
+    public static final String GENCODE_DATA_SOURCE_GTF_PATH_HG19   = FUNCOTATOR_DATA_SOURCES_MAIN_FOLDER + "gencode" + File.separator + REFERENCE_VERSION_HG19 + File.separator + "gencode.v19.testVariantSubset.gtf";
+    public static final String GENCODE_DATA_SOURCE_FASTA_PATH_HG19 = FUNCOTATOR_DATA_SOURCES_MAIN_FOLDER + "gencode" + File.separator + REFERENCE_VERSION_HG19 + File.separator + "gencode.v19.testVariantSubset.pc_transcripts.fa";
     public static final String GENCODE_DATA_SOURCE_GTF_PATH_HG38   = FUNCOTATOR_DATA_SOURCES_MAIN_FOLDER + "gencode" + File.separator + REFERENCE_VERSION_HG38 + File.separator + "gencode.v28.regressionTestVariantSet.gtf";
     public static final String GENCODE_DATA_SOURCE_FASTA_PATH_HG38 = FUNCOTATOR_DATA_SOURCES_MAIN_FOLDER + "gencode" + File.separator + REFERENCE_VERSION_HG38 + File.separator + "gencode.v28.regressionTestVariantSet.pc_transcripts.fa";
 
diff --git a/src/test/resources/large/funcotator/funcotator_dataSources/gencode/hg19/gencode.config b/src/test/resources/large/funcotator/funcotator_dataSources/gencode/hg19/gencode.config
old mode 100755
new mode 100644
index 0960de2f558..5e8eb9d032b
--- a/src/test/resources/large/funcotator/funcotator_dataSources/gencode/hg19/gencode.config
+++ b/src/test/resources/large/funcotator/funcotator_dataSources/gencode/hg19/gencode.config
@@ -1,3 +1,3 @@
 version https://git-lfs.github.com/spec/v1
-oid sha256:b90f80d36fa98d3f7721478b7d3f54d0c1439af5ef43a30c1f9469adc4291c0e
-size 1751
+oid sha256:94c307d63e38dfd7c2736b0c10551f4d1d627bf3b8d0a9a90a8ede94205bd9a2
+size 1789
diff --git a/src/test/resources/large/funcotator/funcotator_dataSources/gencode/hg19/gencode.v19.regressionTestVariantSet.gtf b/src/test/resources/large/funcotator/funcotator_dataSources/gencode/hg19/gencode.v19.regressionTestVariantSet.gtf
deleted file mode 100644
index fd7f5e8ee6d..00000000000
--- a/src/test/resources/large/funcotator/funcotator_dataSources/gencode/hg19/gencode.v19.regressionTestVariantSet.gtf
+++ /dev/null
@@ -1,3 +0,0 @@
-version https://git-lfs.github.com/spec/v1
-oid sha256:cc89574e9ad3b7c7cbdcaa010e1c947b95f23222b643d904b711ec939e58c669
-size 51504976
diff --git a/src/test/resources/large/funcotator/funcotator_dataSources/gencode/hg19/gencode.v19.regressionTestVariantSet.gtf.idx b/src/test/resources/large/funcotator/funcotator_dataSources/gencode/hg19/gencode.v19.regressionTestVariantSet.gtf.idx
deleted file mode 100644
index 90f61c08c9d..00000000000
--- a/src/test/resources/large/funcotator/funcotator_dataSources/gencode/hg19/gencode.v19.regressionTestVariantSet.gtf.idx
+++ /dev/null
@@ -1,3 +0,0 @@
-version https://git-lfs.github.com/spec/v1
-oid sha256:11e094e4a5591cfe6f8fa5f164f27f470fe2f1a0375e21e5f1be42926e05c9ef
-size 21712
diff --git a/src/test/resources/large/funcotator/funcotator_dataSources/gencode/hg19/gencode.v19.regressionTestVariantSet.pc_transcripts.dict b/src/test/resources/large/funcotator/funcotator_dataSources/gencode/hg19/gencode.v19.regressionTestVariantSet.pc_transcripts.dict
deleted file mode 100644
index 551302f5e89..00000000000
--- a/src/test/resources/large/funcotator/funcotator_dataSources/gencode/hg19/gencode.v19.regressionTestVariantSet.pc_transcripts.dict
+++ /dev/null
@@ -1,3 +0,0 @@
-version https://git-lfs.github.com/spec/v1
-oid sha256:e8ed57569f48d8930953d50b09701af516cea5f47e7e4050766390e59b62b86c
-size 1329521
diff --git a/src/test/resources/large/funcotator/funcotator_dataSources/gencode/hg19/gencode.v19.regressionTestVariantSet.pc_transcripts.fa b/src/test/resources/large/funcotator/funcotator_dataSources/gencode/hg19/gencode.v19.regressionTestVariantSet.pc_transcripts.fa
deleted file mode 100644
index 6ed6bd56adb..00000000000
--- a/src/test/resources/large/funcotator/funcotator_dataSources/gencode/hg19/gencode.v19.regressionTestVariantSet.pc_transcripts.fa
+++ /dev/null
@@ -1,3 +0,0 @@
-version https://git-lfs.github.com/spec/v1
-oid sha256:d10be98c3f7cd40f443c889d13908bc300775441c7e4263bad00a2d7fb411d91
-size 9553219
diff --git a/src/test/resources/large/funcotator/funcotator_dataSources/gencode/hg19/gencode.v19.regressionTestVariantSet.pc_transcripts.fa.fai b/src/test/resources/large/funcotator/funcotator_dataSources/gencode/hg19/gencode.v19.regressionTestVariantSet.pc_transcripts.fa.fai
deleted file mode 100644
index 7d1846c2f9b..00000000000
--- a/src/test/resources/large/funcotator/funcotator_dataSources/gencode/hg19/gencode.v19.regressionTestVariantSet.pc_transcripts.fa.fai
+++ /dev/null
@@ -1,3 +0,0 @@
-version https://git-lfs.github.com/spec/v1
-oid sha256:0dd117a5dfd638c86068c33a5fd0076ed1a4d754936e1389f963537e37ef29d3
-size 587280
diff --git a/src/test/resources/large/funcotator/funcotator_dataSources/gencode/hg19/gencode.v19.testVariantSubset.gtf b/src/test/resources/large/funcotator/funcotator_dataSources/gencode/hg19/gencode.v19.testVariantSubset.gtf
new file mode 100644
index 00000000000..98b132120e4
--- /dev/null
+++ b/src/test/resources/large/funcotator/funcotator_dataSources/gencode/hg19/gencode.v19.testVariantSubset.gtf
@@ -0,0 +1,3 @@
+version https://git-lfs.github.com/spec/v1
+oid sha256:5b73d7afd5443e90e4161e18b24c6f2a7e3c563e216003b241c764278b0b6e3c
+size 59484079
diff --git a/src/test/resources/large/funcotator/funcotator_dataSources/gencode/hg19/gencode.v19.testVariantSubset.gtf.idx b/src/test/resources/large/funcotator/funcotator_dataSources/gencode/hg19/gencode.v19.testVariantSubset.gtf.idx
new file mode 100644
index 00000000000..1517dcd04e4
--- /dev/null
+++ b/src/test/resources/large/funcotator/funcotator_dataSources/gencode/hg19/gencode.v19.testVariantSubset.gtf.idx
@@ -0,0 +1,3 @@
+version https://git-lfs.github.com/spec/v1
+oid sha256:704f30aee19e7a35be5cb9639648ec3e00aebf85c30f9d15469553b43043f3cd
+size 21614
diff --git a/src/test/resources/large/funcotator/funcotator_dataSources/gencode/hg19/gencode.v19.testVariantSubset.pc_transcripts.dict b/src/test/resources/large/funcotator/funcotator_dataSources/gencode/hg19/gencode.v19.testVariantSubset.pc_transcripts.dict
new file mode 100644
index 00000000000..7b97e1eaae5
--- /dev/null
+++ b/src/test/resources/large/funcotator/funcotator_dataSources/gencode/hg19/gencode.v19.testVariantSubset.pc_transcripts.dict
@@ -0,0 +1,3 @@
+version https://git-lfs.github.com/spec/v1
+oid sha256:0af9a57ef9d00b609bf320e20117d3f1036f61129a82abc4608446ebbf6ed510
+size 1343934
diff --git a/src/test/resources/large/funcotator/funcotator_dataSources/gencode/hg19/gencode.v19.testVariantSubset.pc_transcripts.fa b/src/test/resources/large/funcotator/funcotator_dataSources/gencode/hg19/gencode.v19.testVariantSubset.pc_transcripts.fa
new file mode 100644
index 00000000000..1de13750285
--- /dev/null
+++ b/src/test/resources/large/funcotator/funcotator_dataSources/gencode/hg19/gencode.v19.testVariantSubset.pc_transcripts.fa
@@ -0,0 +1,3 @@
+version https://git-lfs.github.com/spec/v1
+oid sha256:fa0a83c5d452bdc4d9dc3d8e51443805eb29b0a561d8ce7d3a6b4ba6a7e6b03a
+size 10964936
diff --git a/src/test/resources/large/funcotator/funcotator_dataSources/gencode/hg19/gencode.v19.testVariantSubset.pc_transcripts.fa.fai b/src/test/resources/large/funcotator/funcotator_dataSources/gencode/hg19/gencode.v19.testVariantSubset.pc_transcripts.fa.fai
new file mode 100644
index 00000000000..9aeceb6eaf4
--- /dev/null
+++ b/src/test/resources/large/funcotator/funcotator_dataSources/gencode/hg19/gencode.v19.testVariantSubset.pc_transcripts.fa.fai
@@ -0,0 +1,3 @@
+version https://git-lfs.github.com/spec/v1
+oid sha256:9b46f155e44eda1e9d21df88f0a85817dfe63083111b6250ea925a8086ce39c0
+size 689748
diff --git a/src/test/resources/org/broadinstitute/hellbender/tools/funcotator/validationTestData/regressionTestHg19Large_expected.maf b/src/test/resources/org/broadinstitute/hellbender/tools/funcotator/validationTestData/regressionTestHg19Large_expected.maf
index 2f872838323..74ea3c12f2a 100644
--- a/src/test/resources/org/broadinstitute/hellbender/tools/funcotator/validationTestData/regressionTestHg19Large_expected.maf
+++ b/src/test/resources/org/broadinstitute/hellbender/tools/funcotator/validationTestData/regressionTestHg19Large_expected.maf
@@ -198,16 +198,16 @@
 ## contig=<ID=GL000225.1,length=211173,assembly=GRCh37>
 ## contig=<ID=GL000192.1,length=547496,assembly=GRCh37>
 ## contig=<ID=NC_007605,length=171823,assembly=NC_007605.1>
-## GATKCommandLine=<ID=Funcotator,CommandLine="Funcotator  --output /var/folders/kn/f9s03hnn0xgby73plpc89lz0_ns740/T/regressionTestHg19Large.vcf.funcotator385399061719328629.maf --ref-version hg19 --data-sources-path /Users/droazen/src/hellbender/src/test/resources/large/funcotator/funcotator_dataSources/ --output-file-format MAF --variant /Users/droazen/src/hellbender/src/test/resources/org/broadinstitute/hellbender/tools/funcotator/validationTestData/regressionTestHg19Large.vcf --reference /Users/droazen/src/hellbender/src/test/resources/large/Homo_sapiens_assembly19.fasta.gz --verbosity INFO  --remove-filtered-variants false --transcript-selection-mode CANONICAL --five-prime-flank-size 5000 --three-prime-flank-size 0 --lookahead-cache-bp 100000 --force-b37-to-hg19-reference-contig-conversion false --interval-set-rule UNION --interval-padding 0 --interval-exclusion-padding 0 --interval-merging-rule ALL --read-validation-stringency SILENT --seconds-between-progress-updates 10.0 --disable-sequence-dictionary-validation false --create-output-bam-index true --create-output-bam-md5 false --create-output-variant-index true --create-output-variant-md5 false --lenient false --add-output-sam-program-record true --add-output-vcf-command-line true --cloud-prefetch-buffer 40 --cloud-index-prefetch-buffer -1 --disable-bam-index-caching false --sites-only-vcf-output false --help false --version false --showHidden false --QUIET false --use-jdk-deflater false --use-jdk-inflater false --gcs-max-retries 20 --gcs-project-for-requester-pays  --disable-tool-default-read-filters false",Version=Unavailable-0.0.5,Date="November 15, 2018 1:45:04 PM EST">
 ## source=Funcotator
-##  Funcotator 0.0.5 | Date 20184515T014504 | Gencode 19 CANONICAL | Achilles 110303 | CGC full_2012_03-15 | ClinVar 12.03.20 | Cosmic 83 | CosmicFusion v83 | CosmicTissue v83 | DNARepairGenes 20171217T214737  | Familial_Cancer_Genes 20110905 | Gencode_XHGNC 75_37 | Gencode_XRefSeq 75_37 | HGNC Nov302017 | Simple_Uniprot 2014_12 | dbSNP 9606_b150
+## GATKCommandLine=<ID=Funcotator,CommandLine="Funcotator  --output /var/folders/4p/2b7bzvcx0x7bxvbztmwk__6rkr9cxg/T/regressionTestHg19Large.vcf.funcotator8374754232443378257.maf --ref-version hg19 --data-sources-path /Users/jonn/Development/gatk/src/test/resources/large/funcotator/funcotator_dataSources/ --output-file-format MAF --variant /Users/jonn/Development/gatk/src/test/resources/org/broadinstitute/hellbender/tools/funcotator/validationTestData/regressionTestHg19Large.vcf --reference /Users/jonn/Development/gatk/src/test/resources/large/Homo_sapiens_assembly19.fasta.gz --verbosity INFO  --remove-filtered-variants false --transcript-selection-mode CANONICAL --five-prime-flank-size 5000 --three-prime-flank-size 0 --lookahead-cache-bp 100000 --force-b37-to-hg19-reference-contig-conversion false --interval-set-rule UNION --interval-padding 0 --interval-exclusion-padding 0 --interval-merging-rule ALL --read-validation-stringency SILENT --seconds-between-progress-updates 10.0 --disable-sequence-dictionary-validation false --create-output-bam-index true --create-output-bam-md5 false --create-output-variant-index true --create-output-variant-md5 false --lenient false --add-output-sam-program-record true --add-output-vcf-command-line true --cloud-prefetch-buffer 40 --cloud-index-prefetch-buffer -1 --disable-bam-index-caching false --sites-only-vcf-output false --help false --version false --showHidden false --QUIET false --use-jdk-deflater false --use-jdk-inflater false --gcs-max-retries 20 --gcs-project-for-requester-pays  --disable-tool-default-read-filters false",Version=Unavailable-0.0.5,Date="November 16, 2018 12:40:56 PM EST">
+##  Funcotator 0.0.5 | Date 20184016T124056 | Gencode 19 CANONICAL | Achilles 110303 | CGC full_2012_03-15 | ClinVar 12.03.20 | Cosmic 83 | CosmicFusion v83 | CosmicTissue v83 | DNARepairGenes 20171217T214737  | Familial_Cancer_Genes 20110905 | Gencode_XHGNC 75_37 | Gencode_XRefSeq 75_37 | HGNC Nov302017 | Simple_Uniprot 2014_12 | dbSNP 9606_b150
 Hugo_Symbol	Entrez_Gene_Id	Center	NCBI_Build	Chromosome	Start_Position	End_Position	Strand	Variant_Classification	Variant_Type	Reference_Allele	Tumor_Seq_Allele1	Tumor_Seq_Allele2	dbSNP_RS	dbSNP_Val_Status	Tumor_Sample_Barcode	Matched_Norm_Sample_Barcode	Match_Norm_Seq_Allele1	Match_Norm_Seq_Allele2	Tumor_Validation_Allele1	Tumor_Validation_Allele2	Match_Norm_Validation_Allele1	Match_Norm_Validation_Allele2	Verification_Status	Validation_Status	Mutation_Status	Sequencing_Phase	Sequence_Source	Validation_Method	Score	BAM_File	Sequencer	Tumor_Sample_UUID	Matched_Norm_Sample_UUID	Genome_Change	Annotation_Transcript	Transcript_Strand	Transcript_Exon	Transcript_Position	cDNA_Change	Codon_Change	Protein_Change	Other_Transcripts	Refseq_mRNA_Id	Refseq_prot_Id	SwissProt_acc_Id	SwissProt_entry_Id	Description	UniProt_AApos	UniProt_Region	UniProt_Site	UniProt_Natural_Variations	UniProt_Experimental_Info	GO_Biological_Process	GO_Cellular_Component	GO_Molecular_Function	COSMIC_overlapping_mutations	COSMIC_fusion_genes	COSMIC_tissue_types_affected	COSMIC_total_alterations_in_gene	Tumorscape_Amplification_Peaks	Tumorscape_Deletion_Peaks	TCGAscape_Amplification_Peaks	TCGAscape_Deletion_Peaks	DrugBank	ref_context	gc_content	CCLE_ONCOMAP_overlapping_mutations	CCLE_ONCOMAP_total_mutations_in_gene	CGC_Mutation_Type	CGC_Translocation_Partner	CGC_Tumor_Types_Somatic	CGC_Tumor_Types_Germline	CGC_Other_Diseases	DNARepairGenes_Activity_linked_to_OMIM	FamilialCancerDatabase_Syndromes	MUTSIG_Published_Results	OREGANNO_ID	OREGANNO_Values	tumor_f	t_alt_count	t_ref_count	n_alt_count	n_ref_count	Gencode_19_secondaryVariantClassification	Achilles_Top_Genes	CGC_Name	CGC_GeneID	CGC_Chr	CGC_Chr_Band	CGC_Cancer_Somatic_Mut	CGC_Cancer_Germline_Mut	CGC_Cancer_Syndrome	CGC_Tissue_Type	CGC_Cancer_Molecular_Genetics	CGC_Other_Germline_Mut	ClinVar_HGMD_ID	ClinVar_SYM	ClinVar_TYPE	ClinVar_ASSEMBLY	ClinVar_rs	CosmicFusion_fusion_id	DNARepairGenes_Chromosome_location_linked_to_NCBI_MapView	DNARepairGenes_Accession_number_linked_to_NCBI_Entrez	Familial_Cancer_Genes_Synonym	Familial_Cancer_Genes_Reference	Gencode_XHGNC_hgnc_id	HGNC_HGNC_ID	HGNC_Status	HGNC_Locus_Type	HGNC_Locus_Group	HGNC_Previous_Symbols	HGNC_Previous_Name	HGNC_Synonyms	HGNC_Name_Synonyms	HGNC_Chromosome	HGNC_Date_Modified	HGNC_Date_Symbol_Changed	HGNC_Date_Name_Changed	HGNC_Accession_Numbers	HGNC_Enzyme_IDs	HGNC_Ensembl_Gene_ID	HGNC_Pubmed_IDs	HGNC_RefSeq_IDs	HGNC_Gene_Family_ID	HGNC_Gene_Family_Name	HGNC_CCDS_IDs	HGNC_Vega_ID	HGNC_OMIM_ID(supplied_by_OMIM)	HGNC_RefSeq(supplied_by_NCBI)	HGNC_UniProt_ID(supplied_by_UniProt)	HGNC_Ensembl_ID(supplied_by_Ensembl)	HGNC_UCSC_ID(supplied_by_UCSC)	Simple_Uniprot_alt_uniprot_accessions	dbSNP_AC	dbSNP_AF	dbSNP_AN	dbSNP_ASP	dbSNP_ASS	dbSNP_CAF	dbSNP_CDA	dbSNP_CFL	dbSNP_COMMON	dbSNP_DP	dbSNP_DSS	dbSNP_G5	dbSNP_G5A	dbSNP_GENEINFO	dbSNP_GNO	dbSNP_HD	dbSNP_INT	dbSNP_KGPhase1	dbSNP_KGPhase3	dbSNP_LSD	dbSNP_MTP	dbSNP_MUT	dbSNP_NOC	dbSNP_NOV	dbSNP_NSF	dbSNP_NSM	dbSNP_NSN	dbSNP_OM	dbSNP_OTH	dbSNP_PM	dbSNP_PMC	dbSNP_R3	dbSNP_R5	dbSNP_REF	dbSNP_RV	dbSNP_S3D	dbSNP_SAO	dbSNP_SLO	dbSNP_SSR	dbSNP_SYN	dbSNP_TOPMED	dbSNP_TPA	dbSNP_U3	dbSNP_U5	dbSNP_VC	dbSNP_VP	dbSNP_WGT	dbSNP_WTD	dbSNP_dbSNPBuildID	dbSNP_ID	HGNC_Entrez_Gene_ID(supplied_by_NCBI)	dbSNP_RSPOS	dbSNP_VLD	AC	AF	ALLELE_A	ALLELE_B	AN	BEADSET_ID	FUNCOTATION	GC_SCORE	ILLUMINA_BUILD	ILLUMINA_CHR	ILLUMINA_POS	ILLUMINA_STRAND	N_AA	N_AB	N_BB	PROBE_A	PROBE_B	SOURCE	devR_AA	devR_AB	devR_BB	devTHETA_AA	devTHETA_AB	devTHETA_BB	devX_AA	devX_AB	devX_BB	devY_AA	devY_AB	devY_BB	meanR_AA	meanR_AB	meanR_BB	meanTHETA_AA	meanTHETA_AB	meanTHETA_BB	meanX_AA	meanX_AB	meanX_BB	meanY_AA	meanY_AB	meanY_BB	refSNP	zthresh_X	zthresh_Y	
-RP11-206L10.10		__UNKNOWN__	hg19	1	752566	752566	+	RNA	SNP	G	G	A	3094315	byFrequency;by1000genomes	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	NA	NA	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	g.chr1:752566G>A	ENST00000435300.1	-			c.e1-187C>T									__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__								__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__		CAAGAGAAACGTTTGACAGAG	0.3690773067331671	__UNKNOWN__	__UNKNOWN__								__UNKNOWN__	__UNKNOWN__	__UNKNOWN__																																																											true	false	0.2817,0.7183	false	false	1		false	true	false	FAM87B:400728	true	true	false	true	true	false	false	false	false	false	false	false	false	false	false	true	true	false	true	false	true	false	0	true	0	false	0.351947,0.648053	false	false	false	SNV	0x05012802000515053f000101	1	false	103	rs3094315		752566	true																																														
-RP11-206L10.10		__UNKNOWN__	hg19	1	752721	752721	+	RNA	SNP	A	A	G	3131972	byFrequency;by1000genomes	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	NA	NA	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	g.chr1:752721A>G	ENST00000435300.1	-			c.e1-32T>C									__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__								__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__		AGAAAGGAAAAGGGAAGAATG	0.486284289276808	__UNKNOWN__	__UNKNOWN__								__UNKNOWN__	__UNKNOWN__	__UNKNOWN__																																																											true	false	0.3466,0.6534	false	false	1		false	true	true	FAM87B:400728	true	true	false	true	true	false	false	false	false	false	false	false	false	false	false	false	false	false	true	false	true	false	0	true	0	false	0.393296,0.606704	false	false	false	SNV	0x05010002000517053f000100	1	false	103	rs3131972		752721	true																																														
-LINC00115		__UNKNOWN__	hg19	1	762320	762320	+	RNA	SNP	C	C	T	75333668	byFrequency;by1000genomes	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	NA	NA	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	g.chr1:762320C>T	ENST00000473798.1	-			c.e1-582G>A									__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__								__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__		ACCCAACAGTCACCGCTAGTG	0.6084788029925187	__UNKNOWN__	__UNKNOWN__								__UNKNOWN__	__UNKNOWN__	__UNKNOWN__																																																											true	false	0.9305,0.06949	false	false	1		false	true	false	LINC01128:643837|LINC00115:79854	false	true	false	true	true	false	false	false	false	false	false	false	false	false	false	false	false	false	true	false	false	false	0	true	0	false		false	false	false	SNV	0x050100020005150436000100	1	false	131	rs75333668		762320	true																																														
+RP11-206L10.10		__UNKNOWN__	hg19	1	752566	752566	+	RNA	SNP	G	G	A	3094315	byFrequency;by1000genomes	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	NA	NA	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	g.chr1:752566G>A	ENST00000435300.1	-			c.e1-187C>T			FAM87B_ENST00000326734.1_5'Flank						__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__								__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__		CAAGAGAAACGTTTGACAGAG	0.3690773067331671	__UNKNOWN__	__UNKNOWN__								__UNKNOWN__	__UNKNOWN__	__UNKNOWN__																																																											true	false	0.2817,0.7183	false	false	1		false	true	false	FAM87B:400728	true	true	false	true	true	false	false	false	false	false	false	false	false	false	false	true	true	false	true	false	true	false	0	true	0	false	0.351947,0.648053	false	false	false	SNV	0x05012802000515053f000101	1	false	103	rs3094315		752566	true																																														
+RP11-206L10.10		__UNKNOWN__	hg19	1	752721	752721	+	RNA	SNP	A	A	G	3131972	byFrequency;by1000genomes	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	NA	NA	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	g.chr1:752721A>G	ENST00000435300.1	-			c.e1-32T>C			FAM87B_ENST00000326734.1_5'Flank						__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__								__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__		AGAAAGGAAAAGGGAAGAATG	0.486284289276808	__UNKNOWN__	__UNKNOWN__								__UNKNOWN__	__UNKNOWN__	__UNKNOWN__																																																											true	false	0.3466,0.6534	false	false	1		false	true	true	FAM87B:400728	true	true	false	true	true	false	false	false	false	false	false	false	false	false	false	false	false	false	true	false	true	false	0	true	0	false	0.393296,0.606704	false	false	false	SNV	0x05010002000517053f000100	1	false	103	rs3131972		752721	true																																														
+LINC00115		__UNKNOWN__	hg19	1	762320	762320	+	RNA	SNP	C	C	T	75333668	byFrequency;by1000genomes	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	NA	NA	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	g.chr1:762320C>T	ENST00000473798.1	-			c.e1-582G>A			RP11-206L10.11_ENST00000445118.2_5'Flank						__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__								__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__		ACCCAACAGTCACCGCTAGTG	0.6084788029925187	__UNKNOWN__	__UNKNOWN__								__UNKNOWN__	__UNKNOWN__	__UNKNOWN__																																																											true	false	0.9305,0.06949	false	false	1		false	true	false	LINC01128:643837|LINC00115:79854	false	true	false	true	true	false	false	false	false	false	false	false	false	false	false	false	false	false	true	false	false	false	0	true	0	false		false	false	false	SNV	0x050100020005150436000100	1	false	131	rs75333668		762320	true																																														
 Unknown		__UNKNOWN__	hg19	1	798959	798959	+	IGR	SNP	G	G	A			__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	NA	NA	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	g.chr1:798959G>A	no_transcript													__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__								__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__		TGGGCTTTAAGGTATGACTAG	0.4089775561097257	__UNKNOWN__	__UNKNOWN__								__UNKNOWN__	__UNKNOWN__	__UNKNOWN__																																																											false	false		false	false			false	false	false		false	false	false	false	false	false	false	false	false	false	false	false	false	false	false	false	false	false	false	false	false	false		false		false		false	false	false				false					false																																														
 RP11-54O7.16		__UNKNOWN__	hg19	1	838555	838555	+	5'Flank	SNP	C	C	A			__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	NA	NA	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	g.chr1:838555C>A	ENST00000607769.1	+												__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__								__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__		GACCCCATTTCACCTTAATCG	0.5511221945137157	__UNKNOWN__	__UNKNOWN__								__UNKNOWN__	__UNKNOWN__	__UNKNOWN__																																																											false	false		false	false			false	false	false		false	false	false	false	false	false	false	false	false	false	false	false	false	false	false	false	false	false	false	false	false	false		false		false		false	false	false				false					false																																														
-RP11-54O7.16		__UNKNOWN__	hg19	1	846808	846808	+	RNA	SNP	C	C	T	4475691	byFrequency;by1000genomes	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	NA	NA	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	g.chr1:846808C>T	ENST00000607769.1	+			c.e2-4322C>T									__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__								__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__		TGGTGAGCTGCGCCTTTGTGC	0.6059850374064838	__UNKNOWN__	__UNKNOWN__								__UNKNOWN__	__UNKNOWN__	__UNKNOWN__																																																											true	false	0.7452,0.2548	false	false	1		false	true	true	LOC284600:284600	true	true	false	true	true	false	false	false	false	false	false	false	false	false	false	false	false	false	true	false	false	false	0	true	0	false	0.725634,0.274366	false	false	false	SNV	0x05010002000517053e000100	1	false	111	rs4475691		846808	true																																														
+RP11-54O7.16		__UNKNOWN__	hg19	1	846808	846808	+	RNA	SNP	C	C	T	4475691	byFrequency;by1000genomes	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	NA	NA	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	g.chr1:846808C>T	ENST00000607769.1	+			c.e2-4322C>T			RP11-54O7.2_ENST00000398216.2_5'Flank|RP11-54O7.1_ENST00000448179.1_5'Flank						__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__								__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__		TGGTGAGCTGCGCCTTTGTGC	0.6059850374064838	__UNKNOWN__	__UNKNOWN__								__UNKNOWN__	__UNKNOWN__	__UNKNOWN__																																																											true	false	0.7452,0.2548	false	false	1		false	true	true	LOC284600:284600	true	true	false	true	true	false	false	false	false	false	false	false	false	false	false	false	false	false	true	false	false	false	0	true	0	false	0.725634,0.274366	false	false	false	SNV	0x05010002000517053e000100	1	false	111	rs4475691		846808	true																																														
 SAMD11		__UNKNOWN__	hg19	1	861349	861349	+	Missense_Mutation	SNP	C	C	T	200686669	byFrequency	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	NA	NA	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	g.chr1:861349C>T	ENST00000342066.3	+	2	111	c.28C>T	c.(28-30)Cct>Tct	p.P10S	AL645608.1_ENST00000598827.1_Missense_Mutation_p.G84E						__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__								__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__		GCAGGTGCATCCTCCGATCTG	0.6533665835411472	__UNKNOWN__	__UNKNOWN__								__UNKNOWN__	__UNKNOWN__	__UNKNOWN__																																																											true	false		false	false			false	false	false	SAMD11:148398	false	true	false	false	false	false	false	false	false	false	false	true	false	false	false	false	false	false	false	true	false	false	0	false	0	false		false	false	false	SNV	0x050000000a05040402000100	1	false	137	rs200686669		861349	true																																														
 SAMD11		__UNKNOWN__	hg19	1	861808	861808	+	Intron	SNP	A	A	G	13302982	byFrequency;by1000genomes	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	NA	NA	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	g.chr1:861808A>G	ENST00000342066.3	+			c.e2+415A>G			AL645608.1_ENST00000598827.1_Intron						__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__								__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__		GGACGACAGCATTTTGGGGAG	0.6134663341645885	__UNKNOWN__	__UNKNOWN__								__UNKNOWN__	__UNKNOWN__	__UNKNOWN__																																																											true	false	0.3177,0.6823	false	false	1		false	true	false	SAMD11:148398	true	true	true	true	true	false	false	false	false	false	false	false	false	false	false	false	false	false	false	false	false	false	0	true	0	false	0.289649,0.710351	false	false	false	SNV	0x05010008000515053f000100	1	false	121	rs13302982		861808	true																																														
 SAMD11		__UNKNOWN__	hg19	1	865545	865545	+	Missense_Mutation	SNP	G	G	A	201186828	byFrequency;by1000genomes	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	NA	NA	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	g.chr1:865545G>A	ENST00000342066.3	+	3	166	c.83G>A	c.(82-84)cGg>cAg	p.R28Q	AL645608.1_ENST00000598827.1_Intron						__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__								__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__		AACCGGGGGCGGCTGGCAGAC	0.6683291770573566	__UNKNOWN__	__UNKNOWN__								__UNKNOWN__	__UNKNOWN__	__UNKNOWN__																																																											true	false	0.9972,0.002796	false	false	1		false	false	false	SAMD11:148398	false	true	false	true	true	false	false	false	false	false	false	true	false	false	false	false	false	false	false	true	false	false	0	false	0	false	0.997012,0.00298784	false	false	false	SNV	0x050000000a05040436000100	1	false	137	rs201186828		865545	true																																														
@@ -371,13 +371,13 @@ TNFRSF18		__UNKNOWN__	hg19	1	1139287	1139287	+	Silent	SNP	G	G	A	199916456	byFreq
 TNFRSF18		__UNKNOWN__	hg19	1	1139308	1139308	+	Silent	SNP	G	G	A	201894449	byFrequency;by1000genomes	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	NA	NA	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	g.chr1:1139308G>A	ENST00000379268.2	-	5	762	c.642C>T	c.(640-642)gaC>gaT	p.D214D	TNFRSF18_ENST00000379265.5_Silent_p.D207D|TNFRSF18_ENST00000328596.6_Missense_Mutation_p.T144M|TNFRSF18_ENST00000486728.1_Silent_p.D142D						__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__								__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__		AGCTTCTGGCGTCTTCGGTCG	0.7082294264339152	__UNKNOWN__	__UNKNOWN__								__UNKNOWN__	__UNKNOWN__	__UNKNOWN__																																																											true	false	0.9992,0.0007987,.	false	false	0		false	false	false	TNFRSF18:8784	false	true	false	false	true	false	false	false	false	false	false	true	false	false	false	false	false	false	false	true	false	false	0	false	0	true	0.999863,0.000137372,.	false	false	false	SNV	0x050000000b05040426000100	1	false	137	rs201894449		1139308	true																																														
 TNFRSF18		__UNKNOWN__	hg19	1	1139320	1139320	+	Silent	SNP	C	C	T	200096730	byFrequency;by1000genomes	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	NA	NA	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	g.chr1:1139320C>T	ENST00000379268.2	-	5	750	c.630G>A	c.(628-630)ccG>ccA	p.P210P	TNFRSF18_ENST00000379265.5_Silent_p.P203P|TNFRSF18_ENST00000328596.6_Missense_Mutation_p.R140H|TNFRSF18_ENST00000486728.1_Silent_p.P138P						__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__								__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__		CTTCGGTCGACGGCGGCACCT	0.7107231920199502	__UNKNOWN__	__UNKNOWN__								__UNKNOWN__	__UNKNOWN__	__UNKNOWN__																																																											true	false	0.9996,0.0003994	false	false	0		false	false	false	TNFRSF18:8784	false	true	false	false	true	false	false	false	false	false	false	true	false	false	false	false	false	false	false	true	false	false	0	false	0	true	0.999966,3.4343e-005	false	false	false	SNV	0x050000000b05040426000100	1	false	137	rs200096730		1139320	true																																														
 TNFRSF18		__UNKNOWN__	hg19	1	1141765	1141765	+	Splice_Site	SNP	C	C	T	72894038	byFrequency;by1000genomes	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	NA	NA	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	g.chr1:1141765C>T	ENST00000379268.2	-	1	307	c.187G>A	c.(187-189)Ggc>Agc	p.G63S	TNFRSF18_ENST00000379265.5_Splice_Site_p.G63S|TNFRSF18_ENST00000328596.6_Splice_Site_p.G63S|TNFRSF18_ENST00000486728.1_5'Flank						__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__								__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__		GTTTACTTACCCGGGTAATCG	0.7107231920199502	__UNKNOWN__	__UNKNOWN__								__UNKNOWN__	__UNKNOWN__	__UNKNOWN__						MISSENSE																																																					true	false	0.9976,0.002396	false	false	1		false	false	false	TNFRSF18:8784	true	true	false	true	true	false	false	false	false	false	false	true	false	false	false	false	false	false	false	true	false	false	0	false	0	false	0.99684,0.00315956	false	false	false	SNV	0x050000000a0504053e000100	1	false	130	rs72894038		1141765	true																																														
-SDF4		__UNKNOWN__	hg19	1	1153073	1153073	+	Intron	SNP	G	G	A	199825378	byFrequency;by1000genomes	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	NA	NA	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	g.chr1:1153073G>A	ENST00000360001.6	-			c.e7+5C>T			SDF4_ENST00000263741.7_Missense_Mutation_p.R342C						__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__								__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__		GTAGCTCTGCGGGCGAGCGGG	0.6583541147132169	__UNKNOWN__	__UNKNOWN__								__UNKNOWN__	__UNKNOWN__	__UNKNOWN__																																																											true	false	0.9996,0.0003994	false	false	0		false	false	false	SDF4:51150	false	true	true	true	true	false	false	false	false	false	false	true	false	false	false	false	false	false	false	true	false	false	0	true	0	false	0.999966,3.4343e-005	false	false	false	SNV	0x050100080a05040436000100	1	false	137	rs199825378		1153073	true																																														
-SDF4		__UNKNOWN__	hg19	1	1153099	1153099	+	Intron	SNP	G	G	A	139298872	byFrequency;by1000genomes	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	NA	NA	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	g.chr1:1153099G>A	ENST00000360001.6	-			c.e7+31C>T			SDF4_ENST00000263741.7_Missense_Mutation_p.A333V						__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__								__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__		GGTCAGCGTCGCCTTTCCCCC	0.6483790523690773	__UNKNOWN__	__UNKNOWN__								__UNKNOWN__	__UNKNOWN__	__UNKNOWN__																																																											true	false	0.9996,0.0003994	false	false	0		false	false	false	SDF4:51150	false	true	true	false	true	false	false	false	false	false	false	true	false	false	false	false	false	false	false	true	false	false	0	false	0	false	0.999073,0.000927261	false	false	false	SNV	0x050000080a05040426000100	1	false	134	rs139298872		1153099	true																																														
-SDF4		__UNKNOWN__	hg19	1	1153129	1153129	+	Intron	SNP	C	C	T	72894044	byFrequency;by1000genomes	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	NA	NA	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	g.chr1:1153129C>T	ENST00000360001.6	-			c.e7+61G>A			SDF4_ENST00000263741.7_Missense_Mutation_p.R323Q						__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__								__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__		CGCGGCCAGCCGCACGAAGTG	0.6408977556109726	__UNKNOWN__	__UNKNOWN__								__UNKNOWN__	__UNKNOWN__	__UNKNOWN__																																																											true	false	0.9946,0.005391	false	false	1		false	false	false	SDF4:51150	true	true	true	true	true	false	false	false	false	false	false	true	false	false	false	false	false	false	false	true	false	false	0	true	0	false	0.993028,0.00697163	false	false	false	SNV	0x050100080a0504053e000100	1	false	130	rs72894044		1153129	true																																														
+SDF4		__UNKNOWN__	hg19	1	1153073	1153073	+	Intron	SNP	G	G	A	199825378	byFrequency;by1000genomes	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	NA	NA	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	g.chr1:1153073G>A	ENST00000360001.6	-			c.e7+5C>T			SDF4_ENST00000263741.7_Missense_Mutation_p.R342C|TNFRSF4_ENST00000379236.3_5'Flank|TNFRSF4_ENST00000453580.1_5'Flank						__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__								__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__		GTAGCTCTGCGGGCGAGCGGG	0.6583541147132169	__UNKNOWN__	__UNKNOWN__								__UNKNOWN__	__UNKNOWN__	__UNKNOWN__																																																											true	false	0.9996,0.0003994	false	false	0		false	false	false	SDF4:51150	false	true	true	true	true	false	false	false	false	false	false	true	false	false	false	false	false	false	false	true	false	false	0	true	0	false	0.999966,3.4343e-005	false	false	false	SNV	0x050100080a05040436000100	1	false	137	rs199825378		1153073	true																																														
+SDF4		__UNKNOWN__	hg19	1	1153099	1153099	+	Intron	SNP	G	G	A	139298872	byFrequency;by1000genomes	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	NA	NA	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	g.chr1:1153099G>A	ENST00000360001.6	-			c.e7+31C>T			SDF4_ENST00000263741.7_Missense_Mutation_p.A333V|TNFRSF4_ENST00000379236.3_5'Flank|TNFRSF4_ENST00000453580.1_5'Flank						__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__								__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__		GGTCAGCGTCGCCTTTCCCCC	0.6483790523690773	__UNKNOWN__	__UNKNOWN__								__UNKNOWN__	__UNKNOWN__	__UNKNOWN__																																																											true	false	0.9996,0.0003994	false	false	0		false	false	false	SDF4:51150	false	true	true	false	true	false	false	false	false	false	false	true	false	false	false	false	false	false	false	true	false	false	0	false	0	false	0.999073,0.000927261	false	false	false	SNV	0x050000080a05040426000100	1	false	134	rs139298872		1153099	true																																														
+SDF4		__UNKNOWN__	hg19	1	1153129	1153129	+	Intron	SNP	C	C	T	72894044	byFrequency;by1000genomes	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	NA	NA	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	g.chr1:1153129C>T	ENST00000360001.6	-			c.e7+61G>A			SDF4_ENST00000263741.7_Missense_Mutation_p.R323Q|TNFRSF4_ENST00000379236.3_5'Flank|TNFRSF4_ENST00000453580.1_5'Flank						__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__								__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__		CGCGGCCAGCCGCACGAAGTG	0.6408977556109726	__UNKNOWN__	__UNKNOWN__								__UNKNOWN__	__UNKNOWN__	__UNKNOWN__																																																											true	false	0.9946,0.005391	false	false	1		false	false	false	SDF4:51150	true	true	true	true	true	false	false	false	false	false	false	true	false	false	false	false	false	false	false	true	false	false	0	true	0	false	0.993028,0.00697163	false	false	false	SNV	0x050100080a0504053e000100	1	false	130	rs72894044		1153129	true																																														
 SDF4		__UNKNOWN__	hg19	1	1158277	1158277	+	Intron	SNP	G	G	A	3813199	byFrequency;by1000genomes	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	NA	NA	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	g.chr1:1158277G>A	ENST00000360001.6	-			c.e4-347C>T			SDF4_ENST00000263741.7_Intron|SDF4_ENST00000545427.1_Intron						__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__								__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__		ATGTACTCACGAGCCTACATG	0.5860349127182045	__UNKNOWN__	__UNKNOWN__								__UNKNOWN__	__UNKNOWN__	__UNKNOWN__																																																											true	false	0.8758,0.1242	false	false	1		false	true	false	SDF4:51150	true	true	true	true	true	false	false	false	false	false	false	false	false	false	false	true	true	false	false	false	true	false	0	true	0	false	0.871042,0.128958	false	false	false	SNV	0x05012808000515053f000100	1	false	107	rs3813199		1158277	true																																														
 SDF4		__UNKNOWN__	hg19	1	1159213	1159213	+	Splice_Site	SNP	G	G	A	149289348	byFrequency;by1000genomes	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	NA	NA	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	g.chr1:1159213G>A	ENST00000360001.6	-	3	725	c.462C>T	c.(460-462)gaC>gaT	p.D154D	SDF4_ENST00000263741.7_Splice_Site_p.D154D|SDF4_ENST00000545427.1_Splice_Site_p.D154D						__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__								__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__		CCACAGTACCGTCCCCGTCAG	0.6608478802992519	__UNKNOWN__	__UNKNOWN__								__UNKNOWN__	__UNKNOWN__	__UNKNOWN__						SILENT																																																					true	false	0.9988,0.001198	false	false	1		false	false	false	SDF4:51150	false	true	false	true	true	false	false	false	false	false	false	false	false	false	false	false	false	false	false	true	false	false	0	false	0	true	0.999141,0.000858575	false	false	false	SNV	0x050000000305040436000100	1	false	134	rs149289348		1159213	true																																														
 SDF4		__UNKNOWN__	hg19	1	1159213	1159213	+	Splice_Site	SNP	G	G	A	149289348	byFrequency;by1000genomes	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	NA	NA	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	g.chr1:1159213G>A	ENST00000360001.6	-	3	725	c.462C>T	c.(460-462)gaC>gaT	p.D154D	SDF4_ENST00000263741.7_Splice_Site_p.D154D|SDF4_ENST00000545427.1_Splice_Site_p.D154D						__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__								__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__		CCACAGTACCGTCCCCGTCAG	0.6608478802992519	__UNKNOWN__	__UNKNOWN__								__UNKNOWN__	__UNKNOWN__	__UNKNOWN__						SILENT																																																					true	false	0.9988,0.001198	false	false	1		false	false	false	SDF4:51150	false	true	false	true	true	false	false	false	false	false	false	false	false	false	false	false	false	false	false	true	false	false	0	false	0	true	0.999141,0.000858575	false	false	false	SNV	0x050000000305040436000100	1	false	134	rs149289348		1159213	true																																														
-SDF4		__UNKNOWN__	hg19	1	1163804	1163804	+	Intron	SNP	C	C	T	7515488	byFrequency;by1000genomes	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	NA	NA	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	g.chr1:1163804C>T	ENST00000360001.6	-			c.e2-44G>A			SDF4_ENST00000263741.7_Intron|SDF4_ENST00000545427.1_Intron|SDF4_ENST00000459994.2_Intron						__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__								__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__		CACAGGCGAGCGCACGCGGAC	0.6783042394014963	__UNKNOWN__	__UNKNOWN__								__UNKNOWN__	__UNKNOWN__	__UNKNOWN__																																																											true	false	0.8131,0.1869	false	false	1		false	true	true	SDF4:51150	true	true	true	true	true	false	false	false	false	false	false	false	false	false	false	true	true	false	false	false	false	false	0	true	0	false	0.830792,0.169208	false	false	false	SNV	0x05012808000517053f000100	1	false	116	rs7515488		1163804	true																																														
+SDF4		__UNKNOWN__	hg19	1	1163804	1163804	+	Intron	SNP	C	C	T	7515488	byFrequency;by1000genomes	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	NA	NA	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	g.chr1:1163804C>T	ENST00000360001.6	-			c.e2-44G>A			SDF4_ENST00000263741.7_Intron|SDF4_ENST00000545427.1_Intron|B3GALT6_ENST00000379198.2_5'Flank|SDF4_ENST00000459994.2_Intron						__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__								__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__		CACAGGCGAGCGCACGCGGAC	0.6783042394014963	__UNKNOWN__	__UNKNOWN__								__UNKNOWN__	__UNKNOWN__	__UNKNOWN__																																																											true	false	0.8131,0.1869	false	false	1		false	true	true	SDF4:51150	true	true	true	true	true	false	false	false	false	false	false	false	false	false	false	true	true	false	false	false	false	false	0	true	0	false	0.830792,0.169208	false	false	false	SNV	0x05012808000517053f000100	1	false	116	rs7515488		1163804	true																																														
 FAM132A		__UNKNOWN__	hg19	1	1178442	1178442	+	Splice_Site	SNP	G	G	A	149401953		__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	NA	NA	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	g.chr1:1178442G>A	ENST00000330388.2	-	6	763	c.731C>T	c.(730-732)aCg>aTg	p.T244M							__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__								__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__		GGTCACTCACGTGTGGCGCTG	0.6882793017456359	__UNKNOWN__	__UNKNOWN__								__UNKNOWN__	__UNKNOWN__	__UNKNOWN__						MISSENSE																																																					true	false		false	false			false	false	false	FAM132A:388581	false	true	false	false	false	false	false	false	false	false	false	true	false	false	false	false	false	false	false	true	false	false	0	false	0	false		false	false	false	SNV	0x050000000a05000402000100	1	false	134	rs149401953		1178442	false																																														
 FAM132A		__UNKNOWN__	hg19	1	1178848	1178848	+	Nonsense_Mutation	SNP	G	G	A	115005664	byFrequency;by1000genomes	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	NA	NA	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	g.chr1:1178848G>A	ENST00000330388.2	-	5	648	c.616C>T	c.(616-618)Cag>Tag	p.Q206*							__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__								__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__		GCAGAGAACTGGAAGATGCCG	0.71571072319202	__UNKNOWN__	__UNKNOWN__								__UNKNOWN__	__UNKNOWN__	__UNKNOWN__																																																											true	false	0.9968,0.003195	false	false	1		false	false	false	FAM132A:388581	false	true	false	true	true	false	false	false	false	false	false	false	true	false	false	false	false	false	false	true	false	false	0	false	0	false	0.993474,0.00652562	false	false	false	SNV	0x050000000605040436000100	1	false	132	rs115005664		1178848	true																																														
 FAM132A		__UNKNOWN__	hg19	1	1179619	1179619	+	Nonsense_Mutation	SNP	C	C	A	201741650	byFrequency	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	NA	NA	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	g.chr1:1179619C>A	ENST00000330388.2	-	3	363	c.331G>T	c.(331-333)Gaa>Taa	p.E111*							__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__								__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__		GCGGTCACTTCTGCACCTGGA	0.6982543640897756	__UNKNOWN__	__UNKNOWN__								__UNKNOWN__	__UNKNOWN__	__UNKNOWN__																																																											true	false		false	false			false	false	false	FAM132A:388581	false	true	false	false	false	false	false	false	false	false	false	false	true	false	false	false	false	false	false	true	false	false	0	false	0	false	0.999966,3.43454e-005	false	false	false	SNV	0x050000000605040402000100	1	false	137	rs201741650		1179619	true																																														
@@ -414,12 +414,12 @@ CPSF3L		__UNKNOWN__	hg19	1	1248329	1248329	+	Splice_Site	SNP	G	G	A	56104163	byFr
 CPSF3L		__UNKNOWN__	hg19	1	1248329	1248329	+	Splice_Site	SNP	G	G	A	56104163	byFrequency;by1000genomes	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	NA	NA	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	g.chr1:1248329G>A	ENST00000435064.1	-	12	1215	c.1132C>T	c.(1132-1134)Ctg>Ttg	p.L378L	CPSF3L_ENST00000421495.2_Splice_Site_p.L120L|CPSF3L_ENST00000450926.2_Splice_Site_p.L356L|CPSF3L_ENST00000411962.1_Splice_Site_p.L280L|CPSF3L_ENST00000419704.1_Splice_Site_p.L277L|CPSF3L_ENST00000540437.1_Splice_Site_p.L384L|CPSF3L_ENST00000545578.1_Splice_Site_p.L349L|ACAP3_ENST00000354700.5_5'Flank|CPSF3L_ENST00000462432.1_Splice_Site						__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__								__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__		TTGACCTCCAGCTACAGAGGC	0.6683291770573566	__UNKNOWN__	__UNKNOWN__								__UNKNOWN__	__UNKNOWN__	__UNKNOWN__						SILENT																																																					true	false	0.9982,0.001797	false	false	1		false	false	false	MIR6727:102465435|CPSF3L:54973	false	true	false	true	true	false	false	false	false	false	false	false	false	false	false	false	false	false	true	true	false	true	0	true	0	true	0.997321,0.00267876	false	false	false	SNV	0x050300020305040436000100	1	false	129	rs56104163		1248329	true																																														
 CPSF3L		__UNKNOWN__	hg19	1	1249193	1249194	+	Frame_Shift_Ins	INS	-	-	GCAA	752230074		__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	NA	NA	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	g.chr1:1249193_1249194insGCAA	ENST00000435064.1	-	9	959	c.875_876insTTGC	c.(874-876)aagfs	p.K292fs	CPSF3L_ENST00000421495.2_Frame_Shift_Ins_p.K34fs|CPSF3L_ENST00000450926.2_Frame_Shift_Ins_p.K270fs|CPSF3L_ENST00000411962.1_Frame_Shift_Ins_p.K194fs|CPSF3L_ENST00000419704.1_Frame_Shift_Ins_p.K191fs|CPSF3L_ENST00000540437.1_Frame_Shift_Ins_p.K298fs|CPSF3L_ENST00000545578.1_Frame_Shift_Ins_p.K263fs|CPSF3L_ENST00000462432.1_Intron						__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__								__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__		CACGAAAGTCTTGCGGATCT	0.6325	__UNKNOWN__	__UNKNOWN__								__UNKNOWN__	__UNKNOWN__	__UNKNOWN__																																																											true	false		false	false			false	false	false	MIR6727:102465435|CPSF3L:54973	false	true	false	false	false	false	false	false	false	false	true	false	false	false	false	false	false	false	true	true	false	false	0	false	0	false		false	false	false	DIV	0x050000021205000402000200	1	false	144	rs752230074		1249193	false																																														
 CPSF3L		__UNKNOWN__	hg19	1	1250794	1250794	+	Nonsense_Mutation	SNP	G	G	A	373723769	byFrequency	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	NA	NA	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	g.chr1:1250794G>A	ENST00000435064.1	-	6	636	c.553C>T	c.(553-555)Cga>Tga	p.R185*	CPSF3L_ENST00000450926.2_Nonsense_Mutation_p.R163*|CPSF3L_ENST00000411962.1_Nonsense_Mutation_p.R87*|CPSF3L_ENST00000419704.1_Nonsense_Mutation_p.R84*|CPSF3L_ENST00000421495.2_5'UTR|CPSF3L_ENST00000540437.1_Nonsense_Mutation_p.R191*|CPSF3L_ENST00000545578.1_Nonsense_Mutation_p.R156*|CPSF3L_ENST00000462432.1_Intron						__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__								__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__		CCTAAGTGTCGGTCTGGGGTC	0.6084788029925187	__UNKNOWN__	__UNKNOWN__								__UNKNOWN__	__UNKNOWN__	__UNKNOWN__																																																											true	false		false	false			false	false	false	CPSF3L:54973	false	true	false	false	false	false	false	false	false	false	false	true	true	false	false	false	false	false	false	true	false	true	0	false	0	false		false	false	false	SNV	0x050200000e05040402000100	1	false	138	rs373723769		1250794	true																																														
-CPSF3L		__UNKNOWN__	hg19	1	1254255	1254255	+	Intron	SNP	G	G	A	62623580	byFrequency;by1000genomes	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	NA	NA	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	g.chr1:1254255G>A	ENST00000435064.1	-			c.e4-421C>T			CPSF3L_ENST00000421495.2_Intron|CPSF3L_ENST00000450926.2_Intron|CPSF3L_ENST00000411962.1_Intron|CPSF3L_ENST00000419704.1_Intron|CPSF3L_ENST00000540437.1_Intron|CPSF3L_ENST00000545578.1_Intron|CPSF3L_ENST00000462432.1_5'Flank						__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__								__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__		CTTCTTCCCTGACCCACACCC	0.49875311720698257	__UNKNOWN__	__UNKNOWN__								__UNKNOWN__	__UNKNOWN__	__UNKNOWN__																																																											true	false	0.9373,0.0627	false	false	1		false	true	false	CPSF3L:54973	false	true	true	true	true	false	false	false	false	false	false	false	false	false	false	false	false	false	true	false	true	false	0	true	0	false	0.946974,0.0530256	false	false	false	SNV	0x0501000a0005150436000100	1	false	129	rs62623580		1254255	true																																														
-CPSF3L		__UNKNOWN__	hg19	1	1254678	1254678	+	Nonsense_Mutation	SNP	G	G	A	200207309		__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	NA	NA	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	g.chr1:1254678G>A	ENST00000435064.1	-	4	510	c.427C>T	c.(427-429)Cag>Tag	p.Q143*	CPSF3L_ENST00000450926.2_Nonsense_Mutation_p.Q143*|CPSF3L_ENST00000421495.2_Intron|CPSF3L_ENST00000411962.1_Intron|CPSF3L_ENST00000419704.1_Intron|CPSF3L_ENST00000540437.1_Nonsense_Mutation_p.Q149*|CPSF3L_ENST00000545578.1_Nonsense_Mutation_p.Q114*|CPSF3L_ENST00000462432.1_5'Flank						__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__								__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__		AACCTGACCTGGACCGTCTGG	0.628428927680798	__UNKNOWN__	__UNKNOWN__								__UNKNOWN__	__UNKNOWN__	__UNKNOWN__																																																											true	false		false	false			false	false	false	CPSF3L:54973	false	true	true	false	false	false	false	false	false	false	false	false	true	false	false	false	false	false	true	true	false	true	0	false	0	false		false	false	false	SNV	0x0502000a0605000402000100	1	false	137	rs200207309		1254678	false																																														
-CPSF3L		__UNKNOWN__	hg19	1	1254694	1254694	+	Silent	SNP	G	G	A	145964828	byFrequency	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	NA	NA	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	g.chr1:1254694G>A	ENST00000435064.1	-	4	494	c.411C>T	c.(409-411)caC>caT	p.H137H	CPSF3L_ENST00000450926.2_Silent_p.H137H|CPSF3L_ENST00000421495.2_Intron|CPSF3L_ENST00000411962.1_Intron|CPSF3L_ENST00000419704.1_Intron|CPSF3L_ENST00000540437.1_Silent_p.H143H|CPSF3L_ENST00000545578.1_Silent_p.H108H|CPSF3L_ENST00000462432.1_5'Flank						__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__								__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__		TCTGGTGGAGGTGGACAGCCA	0.628428927680798	__UNKNOWN__	__UNKNOWN__								__UNKNOWN__	__UNKNOWN__	__UNKNOWN__																																																											true	false		false	false			false	false	false	CPSF3L:54973	false	true	true	false	false	false	false	false	false	false	false	false	false	false	false	false	false	false	true	true	false	true	0	false	0	true		false	false	false	SNV	0x0502000a0305040402000100	1	false	134	rs145964828		1254694	true																																														
-CPSF3L		__UNKNOWN__	hg19	1	1256453	1256453	+	Nonsense_Mutation	SNP	G	G	A	200498230	byFrequency;by1000genomes	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	NA	NA	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	g.chr1:1256453G>A	ENST00000435064.1	-	2	132	c.49C>T	c.(49-51)Cga>Tga	p.R17*	CPSF3L_ENST00000450926.2_Nonsense_Mutation_p.R17*|CPSF3L_ENST00000419704.1_Nonsense_Mutation_p.R17*|CPSF3L_ENST00000421495.2_Intron|CPSF3L_ENST00000411962.1_Intron|CPSF3L_ENST00000540437.1_Nonsense_Mutation_p.R23*|CPSF3L_ENST00000545578.1_5'UTR|GLTPD1_ENST00000343938.4_5'Flank|CPSF3L_ENST00000462432.1_5'Flank|GLTPD1_ENST00000464957.1_5'Flank						__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__								__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__		ATGCAGCTTCGGCCCACGTCC	0.6458852867830424	__UNKNOWN__	__UNKNOWN__								__UNKNOWN__	__UNKNOWN__	__UNKNOWN__																																																											true	false	0.9998,0.0001997	false	false	0		false	false	false	CPSF3L:54973	false	true	true	true	true	false	false	false	false	false	false	false	true	false	false	false	false	false	false	true	false	true	0	false	0	false	0.999897,0.000103029	false	false	true	SNV	0x050200480605040436000100	1	false	137	rs200498230		1256453	true																																														
-CPSF3L		__UNKNOWN__	hg19	1	1258246	1258246	+	Intron	SNP	A	A	C	3845293	byFrequency;by1000genomes	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	NA	NA	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	g.chr1:1258246A>C	ENST00000435064.1	-			c.e1-1715T>G			CPSF3L_ENST00000421495.2_Intron|CPSF3L_ENST00000450926.2_Intron|CPSF3L_ENST00000411962.1_Intron|CPSF3L_ENST00000419704.1_Intron|CPSF3L_ENST00000540437.1_Intron|CPSF3L_ENST00000545578.1_Intron|GLTPD1_ENST00000343938.4_5'Flank|GLTPD1_ENST00000464957.1_5'Flank						__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__								__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__		GGAAGCGGTGAAACAGGACTT	0.6359102244389028	__UNKNOWN__	__UNKNOWN__								__UNKNOWN__	__UNKNOWN__	__UNKNOWN__																																																											true	false	0.2829,0.7171,.	false	false	1		false	true	true	CPTP:80772|CPSF3L:54973	true	true	true	true	true	false	false	false	false	false	false	false	false	false	false	false	false	false	true	false	false	false	0	true	0	false		false	false	false	SNV	0x0501000a0005170537000100	1	false	108	rs3845293		1258246	true																																														
-CPSF3L		__UNKNOWN__	hg19	1	1264539	1264539	+	5'Flank	SNP	G	G	C			__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	NA	NA	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	g.chr1:1264539G>C	ENST00000411962.1	-						CPSF3L_ENST00000419704.1_5'Flank|CPSF3L_ENST00000421495.2_5'Flank|CPSF3L_ENST00000435064.1_5'Flank|CPSF3L_ENST00000450926.2_5'Flank|CPSF3L_ENST00000540437.1_5'Flank|CPSF3L_ENST00000545578.1_5'Flank						__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__								__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__		ACAAGAGAGAGACAGAGTCAC	0.6059850374064838	__UNKNOWN__	__UNKNOWN__								__UNKNOWN__	__UNKNOWN__	__UNKNOWN__																																																											false	false		false	false			false	false	false		false	false	false	false	false	false	false	false	false	false	false	false	false	false	false	false	false	false	false	false	false	false		false		false		false	false	false				false					false																																														
+CPSF3L		__UNKNOWN__	hg19	1	1254255	1254255	+	Intron	SNP	G	G	A	62623580	byFrequency;by1000genomes	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	NA	NA	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	g.chr1:1254255G>A	ENST00000435064.1	-			c.e4-421C>T			CPSF3L_ENST00000421495.2_Intron|CPSF3L_ENST00000450926.2_Intron|CPSF3L_ENST00000411962.1_Intron|CPSF3L_ENST00000419704.1_Intron|CPSF3L_ENST00000540437.1_Intron|CPSF3L_ENST00000545578.1_Intron|CPSF3L_ENST00000462432.1_5'Flank|RP5-890O3.9_ENST00000444968.1_5'Flank						__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__								__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__		CTTCTTCCCTGACCCACACCC	0.49875311720698257	__UNKNOWN__	__UNKNOWN__								__UNKNOWN__	__UNKNOWN__	__UNKNOWN__																																																											true	false	0.9373,0.0627	false	false	1		false	true	false	CPSF3L:54973	false	true	true	true	true	false	false	false	false	false	false	false	false	false	false	false	false	false	true	false	true	false	0	true	0	false	0.946974,0.0530256	false	false	false	SNV	0x0501000a0005150436000100	1	false	129	rs62623580		1254255	true																																														
+CPSF3L		__UNKNOWN__	hg19	1	1254678	1254678	+	Nonsense_Mutation	SNP	G	G	A	200207309		__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	NA	NA	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	g.chr1:1254678G>A	ENST00000435064.1	-	4	510	c.427C>T	c.(427-429)Cag>Tag	p.Q143*	CPSF3L_ENST00000450926.2_Nonsense_Mutation_p.Q143*|CPSF3L_ENST00000421495.2_Intron|CPSF3L_ENST00000411962.1_Intron|CPSF3L_ENST00000419704.1_Intron|CPSF3L_ENST00000540437.1_Nonsense_Mutation_p.Q149*|CPSF3L_ENST00000545578.1_Nonsense_Mutation_p.Q114*|CPSF3L_ENST00000462432.1_5'Flank|RP5-890O3.9_ENST00000444968.1_5'Flank						__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__								__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__		AACCTGACCTGGACCGTCTGG	0.628428927680798	__UNKNOWN__	__UNKNOWN__								__UNKNOWN__	__UNKNOWN__	__UNKNOWN__																																																											true	false		false	false			false	false	false	CPSF3L:54973	false	true	true	false	false	false	false	false	false	false	false	false	true	false	false	false	false	false	true	true	false	true	0	false	0	false		false	false	false	SNV	0x0502000a0605000402000100	1	false	137	rs200207309		1254678	false																																														
+CPSF3L		__UNKNOWN__	hg19	1	1254694	1254694	+	Silent	SNP	G	G	A	145964828	byFrequency	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	NA	NA	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	g.chr1:1254694G>A	ENST00000435064.1	-	4	494	c.411C>T	c.(409-411)caC>caT	p.H137H	CPSF3L_ENST00000450926.2_Silent_p.H137H|CPSF3L_ENST00000421495.2_Intron|CPSF3L_ENST00000411962.1_Intron|CPSF3L_ENST00000419704.1_Intron|CPSF3L_ENST00000540437.1_Silent_p.H143H|CPSF3L_ENST00000545578.1_Silent_p.H108H|CPSF3L_ENST00000462432.1_5'Flank|RP5-890O3.9_ENST00000444968.1_5'Flank						__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__								__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__		TCTGGTGGAGGTGGACAGCCA	0.628428927680798	__UNKNOWN__	__UNKNOWN__								__UNKNOWN__	__UNKNOWN__	__UNKNOWN__																																																											true	false		false	false			false	false	false	CPSF3L:54973	false	true	true	false	false	false	false	false	false	false	false	false	false	false	false	false	false	false	true	true	false	true	0	false	0	true		false	false	false	SNV	0x0502000a0305040402000100	1	false	134	rs145964828		1254694	true																																														
+CPSF3L		__UNKNOWN__	hg19	1	1256453	1256453	+	Nonsense_Mutation	SNP	G	G	A	200498230	byFrequency;by1000genomes	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	NA	NA	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	g.chr1:1256453G>A	ENST00000435064.1	-	2	132	c.49C>T	c.(49-51)Cga>Tga	p.R17*	CPSF3L_ENST00000450926.2_Nonsense_Mutation_p.R17*|CPSF3L_ENST00000419704.1_Nonsense_Mutation_p.R17*|CPSF3L_ENST00000421495.2_Intron|CPSF3L_ENST00000411962.1_Intron|CPSF3L_ENST00000540437.1_Nonsense_Mutation_p.R23*|CPSF3L_ENST00000545578.1_5'UTR|GLTPD1_ENST00000343938.4_5'Flank|CPSF3L_ENST00000462432.1_5'Flank|GLTPD1_ENST00000464957.1_5'Flank|RP5-890O3.9_ENST00000444968.1_5'Flank						__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__								__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__		ATGCAGCTTCGGCCCACGTCC	0.6458852867830424	__UNKNOWN__	__UNKNOWN__								__UNKNOWN__	__UNKNOWN__	__UNKNOWN__																																																											true	false	0.9998,0.0001997	false	false	0		false	false	false	CPSF3L:54973	false	true	true	true	true	false	false	false	false	false	false	false	true	false	false	false	false	false	false	true	false	true	0	false	0	false	0.999897,0.000103029	false	false	true	SNV	0x050200480605040436000100	1	false	137	rs200498230		1256453	true																																														
+CPSF3L		__UNKNOWN__	hg19	1	1258246	1258246	+	Intron	SNP	A	A	C	3845293	byFrequency;by1000genomes	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	NA	NA	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	g.chr1:1258246A>C	ENST00000435064.1	-			c.e1-1715T>G			CPSF3L_ENST00000421495.2_Intron|CPSF3L_ENST00000450926.2_Intron|CPSF3L_ENST00000411962.1_Intron|CPSF3L_ENST00000419704.1_Intron|CPSF3L_ENST00000540437.1_Intron|CPSF3L_ENST00000545578.1_Intron|GLTPD1_ENST00000343938.4_5'Flank|GLTPD1_ENST00000464957.1_5'Flank|RP5-890O3.9_ENST00000444968.1_5'Flank						__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__								__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__		GGAAGCGGTGAAACAGGACTT	0.6359102244389028	__UNKNOWN__	__UNKNOWN__								__UNKNOWN__	__UNKNOWN__	__UNKNOWN__																																																											true	false	0.2829,0.7171,.	false	false	1		false	true	true	CPTP:80772|CPSF3L:54973	true	true	true	true	true	false	false	false	false	false	false	false	false	false	false	false	false	false	true	false	false	false	0	true	0	false		false	false	false	SNV	0x0501000a0005170537000100	1	false	108	rs3845293		1258246	true																																														
+TAS1R3		__UNKNOWN__	hg19	1	1264539	1264539	+	5'Flank	SNP	G	G	C			__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	NA	NA	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	g.chr1:1264539G>C	ENST00000339381.5	+						CPSF3L_ENST00000411962.1_5'Flank|CPSF3L_ENST00000419704.1_5'Flank|CPSF3L_ENST00000421495.2_5'Flank|CPSF3L_ENST00000435064.1_5'Flank|CPSF3L_ENST00000450926.2_5'Flank|CPSF3L_ENST00000540437.1_5'Flank|CPSF3L_ENST00000545578.1_5'Flank						__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__								__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__		ACAAGAGAGAGACAGAGTCAC	0.6059850374064838	__UNKNOWN__	__UNKNOWN__								__UNKNOWN__	__UNKNOWN__	__UNKNOWN__																																																											false	false		false	false			false	false	false		false	false	false	false	false	false	false	false	false	false	false	false	false	false	false	false	false	false	false	false	false	false		false		false		false	false	false				false					false																																														
 DVL1		__UNKNOWN__	hg19	1	1275882	1275882	+	Splice_Site	SNP	G	G	A	148942048	byFrequency;by1000genomes	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	NA	NA	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	g.chr1:1275882G>A	ENST00000378888.5	-	6	892	c.607C>T	c.(607-609)Ctc>Ttc	p.L203F	DVL1_ENST00000378891.5_Splice_Site_p.L203F						__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__								__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__		GAGCTGCTGAGCCTGGGAACA	0.6334164588528678	__UNKNOWN__	__UNKNOWN__								__UNKNOWN__	__UNKNOWN__	__UNKNOWN__						MISSENSE																																																					true	false	0.9992,0.0007987,.	false	false	1		false	false	false	MIR6808:102466740|DVL1:1855	false	true	false	true	true	false	false	false	false	false	false	true	false	false	false	false	false	false	true	true	false	false	0	false	0	false	0.998901,0.00106463,3.4343e-005	false	false	false	SNV	0x050000020a05040436000100	1	false	134	rs148942048		1275882	true																																														
 DVL1		__UNKNOWN__	hg19	1	1275883	1275883	+	Splice_Site	SNP	C	C	T	143175544	byFrequency;by1000genomes	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	NA	NA	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	g.chr1:1275883C>T	ENST00000378888.5	-	6	891	c.606G>A	c.(604-606)agG>agA	p.R202R	DVL1_ENST00000378891.5_Splice_Site_p.R202R						__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__								__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__		AGCTGCTGAGCCTGGGAACAG	0.6334164588528678	__UNKNOWN__	__UNKNOWN__								__UNKNOWN__	__UNKNOWN__	__UNKNOWN__						SILENT																																																					true	false	0.9988,0.001198	false	false	1		false	false	false	MIR6808:102466740|DVL1:1855	false	true	false	true	true	false	false	false	false	false	false	false	false	false	false	false	false	false	true	true	false	false	0	false	0	true	0.999038,0.000961605	false	false	false	SNV	0x050000020305040436000100	1	false	134	rs143175544		1275883	true																																														
 DVL1		__UNKNOWN__	hg19	1	1275883	1275883	+	Splice_Site	SNP	C	C	T	143175544	byFrequency;by1000genomes	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	NA	NA	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	g.chr1:1275883C>T	ENST00000378888.5	-	6	891	c.606G>A	c.(604-606)agG>agA	p.R202R	DVL1_ENST00000378891.5_Splice_Site_p.R202R						__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__								__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__		AGCTGCTGAGCCTGGGAACAG	0.6334164588528678	__UNKNOWN__	__UNKNOWN__								__UNKNOWN__	__UNKNOWN__	__UNKNOWN__						SILENT																																																					true	false	0.9988,0.001198	false	false	1		false	false	false	MIR6808:102466740|DVL1:1855	false	true	false	true	true	false	false	false	false	false	false	false	false	false	false	false	false	false	true	true	false	false	0	false	0	true	0.999038,0.000961605	false	false	false	SNV	0x050000020305040436000100	1	false	134	rs143175544		1275883	true																																														
@@ -428,13 +428,13 @@ DVL1		__UNKNOWN__	hg19	1	1277184	1277184	+	Splice_Site	SNP	G	G	A	201343862	byFre
 DVL1		__UNKNOWN__	hg19	1	1287127	1287127	+	5'Flank	SNP	G	G	A			__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	NA	NA	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	g.chr1:1287127G>A	ENST00000378888.5	-						DVL1_ENST00000378891.5_5'Flank						__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__								__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__		AGCCAGGCAGGAAGACCTAAG	0.6508728179551122	__UNKNOWN__	__UNKNOWN__								__UNKNOWN__	__UNKNOWN__	__UNKNOWN__																																																											false	false		false	false			false	false	false		false	false	false	false	false	false	false	false	false	false	false	false	false	false	false	false	false	false	false	false	false	false		false		false		false	false	false				false					false																																														
 Unknown		__UNKNOWN__	hg19	1	1305561	1305561	+	IGR	SNP	C	C	T			__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	NA	NA	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	g.chr1:1305561C>T	no_transcript													__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__								__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__		CATGGCTTCCCGGCAAGTTAA	0.5211970074812967	__UNKNOWN__	__UNKNOWN__								__UNKNOWN__	__UNKNOWN__	__UNKNOWN__																																																											false	false		false	false			false	false	false		false	false	false	false	false	false	false	false	false	false	false	false	false	false	false	false	false	false	false	false	false	false		false		false		false	false	false				false					false																																														
 AURKAIP1		__UNKNOWN__	hg19	1	1309583	1309583	+	Nonsense_Mutation	SNP	G	G	A			__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	NA	NA	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	g.chr1:1309583G>A	ENST00000338370.3	-	2	696	c.295C>T	c.(295-297)Caa>Taa	p.Q99*	AURKAIP1_ENST00000338338.5_Nonsense_Mutation_p.Q99*|AURKAIP1_ENST00000378853.3_Nonsense_Mutation_p.Q99*|AURKAIP1_ENST00000321751.5_Nonsense_Mutation_p.Q99*						__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__								__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__		TGGTAGGATTGCGGTGGAGCC	0.6533665835411472	__UNKNOWN__	__UNKNOWN__								__UNKNOWN__	__UNKNOWN__	__UNKNOWN__																																																											false	false		false	false			false	false	false		false	false	false	false	false	false	false	false	false	false	false	false	false	false	false	false	false	false	false	false	false	false		false		false		false	false	false				false					false																																														
-RP4-758J18.2		__UNKNOWN__	hg19	1	1335302	1335302	+	Intron	SNP	C	C	T			__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	NA	NA	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	g.chr1:1335302C>T	ENST00000448629.2	+			c.e1+233C>T			RP4-758J18.2_ENST00000444362.1_Intron|RP4-758J18.2_ENST00000576232.1_Intron|RP4-758J18.2_ENST00000453521.1_5'Flank						__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__								__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__		AACACTCAGCCCCTGGGGAGA	0.655860349127182	__UNKNOWN__	__UNKNOWN__								__UNKNOWN__	__UNKNOWN__	__UNKNOWN__																																																											false	false		false	false			false	false	false		false	false	false	false	false	false	false	false	false	false	false	false	false	false	false	false	false	false	false	false	false	false		false		false		false	false	false				false					false																																														
-RP4-758J18.2		__UNKNOWN__	hg19	1	1335790	1335790	+	Intron	SNP	A	A	G			__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	NA	NA	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	g.chr1:1335790A>G	ENST00000448629.2	+			c.e2+107A>G			RP4-758J18.2_ENST00000576232.1_3'UTR|RP4-758J18.2_ENST00000444362.1_Intron|RP4-758J18.2_ENST00000453521.1_5'Flank						__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__								__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__		AGCTGCCAGTAACTGCCCAGC	0.5760598503740648	__UNKNOWN__	__UNKNOWN__								__UNKNOWN__	__UNKNOWN__	__UNKNOWN__																																																											false	false		false	false			false	false	false		false	false	false	false	false	false	false	false	false	false	false	false	false	false	false	false	false	false	false	false	false	false		false		false		false	false	false				false					false																																														
-MRPL20		__UNKNOWN__	hg19	1	1341171	1341171	+	Intron	SNP	C	C	T			__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	NA	NA	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	g.chr1:1341171C>T	ENST00000344843.7	-			c.e3-18G>A			MRPL20_ENST00000482352.1_Nonsense_Mutation_p.W98*|MRPL20_ENST00000493287.1_Intron						__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__								__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__		TCAGTGGGACCCACATACTCA	0.4513715710723192	__UNKNOWN__	__UNKNOWN__								__UNKNOWN__	__UNKNOWN__	__UNKNOWN__																																																											false	false		false	false			false	false	false		false	false	false	false	false	false	false	false	false	false	false	false	false	false	false	false	false	false	false	false	false	false		false		false		false	false	false				false					false																																														
-ANKRD65		__UNKNOWN__	hg19	1	1354515	1354515	+	3'UTR	SNP	C	C	G			__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	NA	NA	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	g.chr1:1354515C>G	ENST00000520296.1	-	3					ANKRD65_ENST00000427211.1_3'UTR|ANKRD65_ENST00000537107.1_Missense_Mutation_p.E389Q|ANKRD65_ENST00000454272.1_Intron						__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__								__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__		CACTCCTTCTCCCCCCCTCCA	0.6683291770573566	__UNKNOWN__	__UNKNOWN__								__UNKNOWN__	__UNKNOWN__	__UNKNOWN__																																																											false	false		false	false			false	false	false		false	false	false	false	false	false	false	false	false	false	false	false	false	false	false	false	false	false	false	false	false	false		false		false		false	false	false				false					false																																														
-ANKRD65		__UNKNOWN__	hg19	1	1354538	1354538	+	3'UTR	SNP	G	G	A			__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	NA	NA	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	g.chr1:1354538G>A	ENST00000520296.1	-	3					ANKRD65_ENST00000427211.1_3'UTR|ANKRD65_ENST00000442470.1_3'UTR|ANKRD65_ENST00000537107.1_Missense_Mutation_p.A381V|ANKRD65_ENST00000454272.1_Intron						__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__								__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__		TTCAGGCAGCGCCTGGGGCAG	0.6708229426433915	__UNKNOWN__	__UNKNOWN__								__UNKNOWN__	__UNKNOWN__	__UNKNOWN__																																																											false	false		false	false			false	false	false		false	false	false	false	false	false	false	false	false	false	false	false	false	false	false	false	false	false	false	false	false	false		false		false		false	false	false				false					false																																														
-ANKRD65		__UNKNOWN__	hg19	1	1354844	1354844	+	3'UTR	SNP	C	C	T			__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	NA	NA	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	g.chr1:1354844C>T	ENST00000520296.1	-	3					ANKRD65_ENST00000427211.1_Missense_Mutation_p.E99K|ANKRD65_ENST00000442470.1_Missense_Mutation_p.E99K|ANKRD65_ENST00000537107.1_Missense_Mutation_p.R279Q|ANKRD65_ENST00000454272.1_Intron						__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__								__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__		CAGGTGTCCTCGGGCGGCAGC	0.6882793017456359	__UNKNOWN__	__UNKNOWN__								__UNKNOWN__	__UNKNOWN__	__UNKNOWN__																																																											false	false		false	false			false	false	false		false	false	false	false	false	false	false	false	false	false	false	false	false	false	false	false	false	false	false	false	false	false		false		false		false	false	false				false					false																																														
-ANKRD65		__UNKNOWN__	hg19	1	1354920	1354920	+	3'UTR	SNP	C	C	A			__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	NA	NA	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	g.chr1:1354920C>A	ENST00000520296.1	-	3					ANKRD65_ENST00000427211.1_Missense_Mutation_p.R73S|ANKRD65_ENST00000442470.1_Missense_Mutation_p.R73S|ANKRD65_ENST00000537107.1_Missense_Mutation_p.V254L|ANKRD65_ENST00000454272.1_Intron						__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__								__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__		CCCAGCAGCACCTCAATGTCC	0.6658354114713217	__UNKNOWN__	__UNKNOWN__								__UNKNOWN__	__UNKNOWN__	__UNKNOWN__																																																											false	false		false	false			false	false	false		false	false	false	false	false	false	false	false	false	false	false	false	false	false	false	false	false	false	false	false	false	false		false		false		false	false	false				false					false																																														
+RP4-758J18.2		__UNKNOWN__	hg19	1	1335302	1335302	+	Intron	SNP	C	C	T			__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	NA	NA	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	g.chr1:1335302C>T	ENST00000448629.2	+			c.e1+233C>T			RP4-758J18.2_ENST00000444362.1_Intron|RP4-758J18.2_ENST00000576232.1_Intron|CCNL2_ENST00000400809.3_5'Flank|CCNL2_ENST00000408918.4_5'Flank|CCNL2_ENST00000408952.5_5'Flank|RP4-758J18.2_ENST00000453521.1_5'Flank						__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__								__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__		AACACTCAGCCCCTGGGGAGA	0.655860349127182	__UNKNOWN__	__UNKNOWN__								__UNKNOWN__	__UNKNOWN__	__UNKNOWN__																																																											false	false		false	false			false	false	false		false	false	false	false	false	false	false	false	false	false	false	false	false	false	false	false	false	false	false	false	false	false		false		false		false	false	false				false					false																																														
+RP4-758J18.2		__UNKNOWN__	hg19	1	1335790	1335790	+	Intron	SNP	A	A	G			__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	NA	NA	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	g.chr1:1335790A>G	ENST00000448629.2	+			c.e2+107A>G			RP4-758J18.2_ENST00000576232.1_3'UTR|RP4-758J18.2_ENST00000444362.1_Intron|CCNL2_ENST00000400809.3_5'Flank|CCNL2_ENST00000408918.4_5'Flank|CCNL2_ENST00000408952.5_5'Flank|RP4-758J18.2_ENST00000453521.1_5'Flank						__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__								__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__		AGCTGCCAGTAACTGCCCAGC	0.5760598503740648	__UNKNOWN__	__UNKNOWN__								__UNKNOWN__	__UNKNOWN__	__UNKNOWN__																																																											false	false		false	false			false	false	false		false	false	false	false	false	false	false	false	false	false	false	false	false	false	false	false	false	false	false	false	false	false		false		false		false	false	false				false					false																																														
+MRPL20		__UNKNOWN__	hg19	1	1341171	1341171	+	Intron	SNP	C	C	T			__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	NA	NA	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	g.chr1:1341171C>T	ENST00000344843.7	-			c.e3-18G>A			MRPL20_ENST00000482352.1_Nonsense_Mutation_p.W98*|MRPL20_ENST00000493287.1_Intron|RN7SL657P_ENST00000582431.1_5'Flank|RP4-758J18.13_ENST00000607307.1_5'Flank						__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__								__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__		TCAGTGGGACCCACATACTCA	0.4513715710723192	__UNKNOWN__	__UNKNOWN__								__UNKNOWN__	__UNKNOWN__	__UNKNOWN__																																																											false	false		false	false			false	false	false		false	false	false	false	false	false	false	false	false	false	false	false	false	false	false	false	false	false	false	false	false	false		false		false		false	false	false				false					false																																														
+ANKRD65		__UNKNOWN__	hg19	1	1354515	1354515	+	3'UTR	SNP	C	C	G			__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	NA	NA	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	g.chr1:1354515C>G	ENST00000520296.1	-	3					ANKRD65_ENST00000427211.1_3'UTR|ANKRD65_ENST00000537107.1_Missense_Mutation_p.E389Q|ANKRD65_ENST00000454272.1_Intron|RP4-758J18.7_ENST00000428932.1_5'Flank						__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__								__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__		CACTCCTTCTCCCCCCCTCCA	0.6683291770573566	__UNKNOWN__	__UNKNOWN__								__UNKNOWN__	__UNKNOWN__	__UNKNOWN__																																																											false	false		false	false			false	false	false		false	false	false	false	false	false	false	false	false	false	false	false	false	false	false	false	false	false	false	false	false	false		false		false		false	false	false				false					false																																														
+ANKRD65		__UNKNOWN__	hg19	1	1354538	1354538	+	3'UTR	SNP	G	G	A			__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	NA	NA	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	g.chr1:1354538G>A	ENST00000520296.1	-	3					ANKRD65_ENST00000427211.1_3'UTR|ANKRD65_ENST00000442470.1_3'UTR|ANKRD65_ENST00000537107.1_Missense_Mutation_p.A381V|ANKRD65_ENST00000454272.1_Intron|RP4-758J18.7_ENST00000428932.1_5'Flank						__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__								__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__		TTCAGGCAGCGCCTGGGGCAG	0.6708229426433915	__UNKNOWN__	__UNKNOWN__								__UNKNOWN__	__UNKNOWN__	__UNKNOWN__																																																											false	false		false	false			false	false	false		false	false	false	false	false	false	false	false	false	false	false	false	false	false	false	false	false	false	false	false	false	false		false		false		false	false	false				false					false																																														
+ANKRD65		__UNKNOWN__	hg19	1	1354844	1354844	+	3'UTR	SNP	C	C	T			__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	NA	NA	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	g.chr1:1354844C>T	ENST00000520296.1	-	3					ANKRD65_ENST00000427211.1_Missense_Mutation_p.E99K|ANKRD65_ENST00000442470.1_Missense_Mutation_p.E99K|ANKRD65_ENST00000537107.1_Missense_Mutation_p.R279Q|ANKRD65_ENST00000454272.1_Intron|RP4-758J18.7_ENST00000428932.1_5'Flank						__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__								__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__		CAGGTGTCCTCGGGCGGCAGC	0.6882793017456359	__UNKNOWN__	__UNKNOWN__								__UNKNOWN__	__UNKNOWN__	__UNKNOWN__																																																											false	false		false	false			false	false	false		false	false	false	false	false	false	false	false	false	false	false	false	false	false	false	false	false	false	false	false	false	false		false		false		false	false	false				false					false																																														
+ANKRD65		__UNKNOWN__	hg19	1	1354920	1354920	+	3'UTR	SNP	C	C	A			__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	NA	NA	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	g.chr1:1354920C>A	ENST00000520296.1	-	3					ANKRD65_ENST00000427211.1_Missense_Mutation_p.R73S|ANKRD65_ENST00000442470.1_Missense_Mutation_p.R73S|ANKRD65_ENST00000537107.1_Missense_Mutation_p.V254L|ANKRD65_ENST00000454272.1_Intron|RP4-758J18.7_ENST00000428932.1_5'Flank						__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__								__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__		CCCAGCAGCACCTCAATGTCC	0.6658354114713217	__UNKNOWN__	__UNKNOWN__								__UNKNOWN__	__UNKNOWN__	__UNKNOWN__																																																											false	false		false	false			false	false	false		false	false	false	false	false	false	false	false	false	false	false	false	false	false	false	false	false	false	false	false	false	false		false		false		false	false	false				false					false																																														
 VWA1		__UNKNOWN__	hg19	1	1366830	1366830	+	5'Flank	SNP	A	A	G	873927	byFrequency;by1000genomes	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	NA	NA	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	g.chr1:1366830A>G	ENST00000338660.5	+						VWA1_ENST00000404702.3_5'Flank|VWA1_ENST00000476993.1_5'Flank|RP4-758J18.10_ENST00000417917.1_RNA						__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__								__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__		CCACTTCAGGACCCTGGGTCC	0.6633416458852868	__UNKNOWN__	__UNKNOWN__								__UNKNOWN__	__UNKNOWN__	__UNKNOWN__																																																											true	false	0.3157,0.6843	false	false	1		false	true	false	LOC102724312:102724312	true	true	true	true	true	false	false	false	false	false	false	false	false	false	false	false	false	false	false	false	true	false	0	true	0	false	0.497733,0.502267	false	false	false	SNV	0x050100080005150537000100	1	false	92	rs873927		1366830	true																																														
 VWA1		__UNKNOWN__	hg19	1	1372743	1372743	+	Silent	SNP	C	C	T			__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	NA	NA	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	g.chr1:1372743C>T	ENST00000476993.1	+	2	588	c.510C>T	c.(508-510)acC>acT	p.T170T	VWA1_ENST00000338660.5_Missense_Mutation_p.R39W|VWA1_ENST00000404702.3_5'UTR|RP4-758J18.10_ENST00000417917.1_5'Flank						__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__								__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__		TTGTCAGCACCGGCCGAGGCA	0.6334164588528678	__UNKNOWN__	__UNKNOWN__								__UNKNOWN__	__UNKNOWN__	__UNKNOWN__																																																											false	false		false	false			false	false	false		false	false	false	false	false	false	false	false	false	false	false	false	false	false	false	false	false	false	false	false	false	false		false		false		false	false	false				false					false																																														
 VWA1		__UNKNOWN__	hg19	1	1372773	1372773	+	Silent	SNP	C	C	T			__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	NA	NA	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	g.chr1:1372773C>T	ENST00000476993.1	+	2	618	c.540C>T	c.(538-540)gcC>gcT	p.A180A	VWA1_ENST00000338660.5_Missense_Mutation_p.R49C|VWA1_ENST00000404702.3_5'UTR|RP4-758J18.10_ENST00000417917.1_5'Flank						__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__								__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__		AGCTGTCAGCCGCTGCCTCAG	0.6384039900249376	__UNKNOWN__	__UNKNOWN__								__UNKNOWN__	__UNKNOWN__	__UNKNOWN__																																																											false	false		false	false			false	false	false		false	false	false	false	false	false	false	false	false	false	false	false	false	false	false	false	false	false	false	false	false	false		false		false		false	false	false				false					false																																														
@@ -455,12 +455,12 @@ SSU72		__UNKNOWN__	hg19	1	1489670	1489670	+	Intron	SNP	C	C	T			__UNKNOWN__	__UNK
 Unknown		__UNKNOWN__	hg19	1	1521595	1521595	+	IGR	SNP	A	A	G			__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	NA	NA	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	g.chr1:1521595A>G	no_transcript													__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__								__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__		CGAAGAGGACAGCCAGAAGAG	0.5461346633416458	__UNKNOWN__	__UNKNOWN__								__UNKNOWN__	__UNKNOWN__	__UNKNOWN__																																																											false	false		false	false			false	false	false		false	false	false	false	false	false	false	false	false	false	false	false	false	false	false	false	false	false	false	false	false	false		false		false		false	false	false				false					false																																														
 MIB2		__UNKNOWN__	hg19	1	1550992	1550992	+	Nonsense_Mutation	SNP	C	C	A	199741261	byFrequency	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	NA	NA	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	g.chr1:1550992C>A	ENST00000505820.2	+	1	170	c.153C>A	c.(151-153)tgC>tgA	p.C51*	MIB2_ENST00000520777.1_Nonsense_Mutation_p.C51*|MIB2_ENST00000355826.5_Nonsense_Mutation_p.C51*|MIB2_ENST00000518681.1_Nonsense_Mutation_p.C51*|MIB2_ENST00000357210.4_5'UTR|MIB2_ENST00000360522.4_5'UTR|MIB2_ENST00000378710.3_5'UTR|MIB2_ENST00000378708.1_5'Flank|MIB2_ENST00000378712.1_5'Flank|MIB2_ENST00000504599.1_5'Flank|RP11-345P4.9_ENST00000607222.1_RNA						__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__								__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__		TGGCGCGATGCGGGCCGTCCT	0.7630922693266833	__UNKNOWN__	__UNKNOWN__								__UNKNOWN__	__UNKNOWN__	__UNKNOWN__																																																											true	false		false	false			false	false	false	MIB2:142678	false	true	false	false	false	false	false	false	false	false	false	false	true	false	false	false	false	false	true	true	false	false	0	true	0	false	0.998798,0.00120201	false	false	false	SNV	0x050100020605040402000100	1	false	137	rs199741261		1550992	true																																														
 MIB2		__UNKNOWN__	hg19	1	1560103	1560103	+	Intron	SNP	C	C	T	28635343	byFrequency;by1000genomes	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	NA	NA	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	g.chr1:1560103C>T	ENST00000505820.2	+			c.e5-72C>T			MIB2_ENST00000520777.1_Intron|MIB2_ENST00000504599.1_Intron|MIB2_ENST00000355826.5_Intron|MIB2_ENST00000378708.1_Intron|MIB2_ENST00000518681.1_Intron|MIB2_ENST00000378712.1_Intron|MIB2_ENST00000357210.4_Intron|MIB2_ENST00000360522.4_Intron|MIB2_ENST00000378710.3_Intron|MIB2_ENST00000512004.1_Intron						__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__								__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__		CTGCATCGCTCTCCCAAGTGG	0.6433915211970075	__UNKNOWN__	__UNKNOWN__								__UNKNOWN__	__UNKNOWN__	__UNKNOWN__																																																											true	false	0.7596,0.2404	false	false	1		false	true	true	MIB2:142678	true	true	true	true	true	false	false	false	false	false	false	false	false	false	false	false	false	false	false	false	false	false	0	true	0	false	0.816265,0.183735	false	false	false	SNV	0x050100080005170536000100	1	false	125	rs28635343		1560103	true																																														
-MIB2		__UNKNOWN__	hg19	1	1562786	1562786	+	Silent	SNP	C	C	T	75855249	byFrequency;by1000genomes	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	NA	NA	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	g.chr1:1562786C>T	ENST00000505820.2	+	12	1847	c.1830C>T	c.(1828-1830)gaC>gaT	p.D610D	MIB2_ENST00000520777.1_Silent_p.D606D|MIB2_ENST00000504599.1_Silent_p.D509D|MIB2_ENST00000355826.5_Silent_p.D596D|MIB2_ENST00000378708.1_Silent_p.D459D|MIB2_ENST00000518681.1_Silent_p.D545D|MIB2_ENST00000378712.1_Silent_p.D430D|MIB2_ENST00000357210.4_Silent_p.D553D|MIB2_ENST00000360522.4_Silent_p.D518D|MIB2_ENST00000378710.3_Silent_p.D517D						__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__								__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__		ACCTGCCGGACGACGAGGGCA	0.71571072319202	__UNKNOWN__	__UNKNOWN__								__UNKNOWN__	__UNKNOWN__	__UNKNOWN__																																																											true	false	0.992,0.007987	false	false	1		false	false	false	MIB2:142678	false	true	false	true	true	false	false	false	false	false	false	false	false	false	false	false	false	false	false	true	false	true	0	true	0	true	0.981249,0.0187513	false	false	false	SNV	0x050300000305040436000100	1	false	131	rs75855249		1562786	true																																														
-MIB2		__UNKNOWN__	hg19	1	1565032	1565032	+	Silent	SNP	G	G	A	200777664	byFrequency;by1000genomes	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	NA	NA	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	g.chr1:1565032G>A	ENST00000505820.2	+	19	2939	c.2922G>A	c.(2920-2922)agG>agA	p.R974R	MIB2_ENST00000520777.1_Silent_p.R970R|MIB2_ENST00000504599.1_Silent_p.R873R|MIB2_ENST00000355826.5_Silent_p.R960R|MIB2_ENST00000378708.1_Silent_p.R823R|MIB2_ENST00000378712.1_Missense_Mutation_p.D734N|MIB2_ENST00000518681.1_Silent_p.R909R|MIB2_ENST00000357210.4_Silent_p.R917R|MIB2_ENST00000360522.4_Silent_p.R882R|MIB2_ENST00000378710.3_Silent_p.R881R						__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__								__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__		GCGCGCGCAGGATGAAGAAGT	0.713216957605985	__UNKNOWN__	__UNKNOWN__								__UNKNOWN__	__UNKNOWN__	__UNKNOWN__																																																											true	false	0.9996,0.0003994	false	false	0		false	false	false	MIB2:142678	false	true	false	false	true	false	false	false	false	false	false	true	false	false	false	false	false	false	false	true	false	false	0	false	0	true	0.99945,0.000549526	false	false	false	SNV	0x050000000b05040426000100	1	false	137	rs200777664		1565032	true																																														
-Unknown		__UNKNOWN__	hg19	1	1566160	1566160	+	IGR	SNP	T	T	C			__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	NA	NA	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	g.chr1:1566160T>C	no_transcript													__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__								__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__		AGGACACCCTTCAGGCGCGGG	0.743142144638404	__UNKNOWN__	__UNKNOWN__								__UNKNOWN__	__UNKNOWN__	__UNKNOWN__																																																											false	false		false	false			false	false	false		false	false	false	false	false	false	false	false	false	false	false	false	false	false	false	false	false	false	false	false	false	false		false		false		false	false	false				false					false																																														
+MIB2		__UNKNOWN__	hg19	1	1562786	1562786	+	Silent	SNP	C	C	T	75855249	byFrequency;by1000genomes	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	NA	NA	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	g.chr1:1562786C>T	ENST00000505820.2	+	12	1847	c.1830C>T	c.(1828-1830)gaC>gaT	p.D610D	MIB2_ENST00000520777.1_Silent_p.D606D|MIB2_ENST00000504599.1_Silent_p.D509D|MIB2_ENST00000355826.5_Silent_p.D596D|MIB2_ENST00000378708.1_Silent_p.D459D|MIB2_ENST00000518681.1_Silent_p.D545D|MIB2_ENST00000378712.1_Silent_p.D430D|MIB2_ENST00000357210.4_Silent_p.D553D|MIB2_ENST00000360522.4_Silent_p.D518D|MIB2_ENST00000378710.3_Silent_p.D517D|MMP23B_ENST00000356026.5_5'Flank|MMP23B_ENST00000378675.3_5'Flank						__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__								__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__		ACCTGCCGGACGACGAGGGCA	0.71571072319202	__UNKNOWN__	__UNKNOWN__								__UNKNOWN__	__UNKNOWN__	__UNKNOWN__																																																											true	false	0.992,0.007987	false	false	1		false	false	false	MIB2:142678	false	true	false	true	true	false	false	false	false	false	false	false	false	false	false	false	false	false	false	true	false	true	0	true	0	true	0.981249,0.0187513	false	false	false	SNV	0x050300000305040436000100	1	false	131	rs75855249		1562786	true																																														
+MIB2		__UNKNOWN__	hg19	1	1565032	1565032	+	Silent	SNP	G	G	A	200777664	byFrequency;by1000genomes	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	NA	NA	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	g.chr1:1565032G>A	ENST00000505820.2	+	19	2939	c.2922G>A	c.(2920-2922)agG>agA	p.R974R	MIB2_ENST00000520777.1_Silent_p.R970R|MIB2_ENST00000504599.1_Silent_p.R873R|MIB2_ENST00000355826.5_Silent_p.R960R|MIB2_ENST00000378708.1_Silent_p.R823R|MIB2_ENST00000378712.1_Missense_Mutation_p.D734N|MIB2_ENST00000518681.1_Silent_p.R909R|MIB2_ENST00000357210.4_Silent_p.R917R|MIB2_ENST00000360522.4_Silent_p.R882R|MIB2_ENST00000378710.3_Silent_p.R881R|MMP23B_ENST00000356026.5_5'Flank|MMP23B_ENST00000378675.3_5'Flank						__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__								__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__		GCGCGCGCAGGATGAAGAAGT	0.713216957605985	__UNKNOWN__	__UNKNOWN__								__UNKNOWN__	__UNKNOWN__	__UNKNOWN__																																																											true	false	0.9996,0.0003994	false	false	0		false	false	false	MIB2:142678	false	true	false	false	true	false	false	false	false	false	false	true	false	false	false	false	false	false	false	true	false	false	0	false	0	true	0.99945,0.000549526	false	false	false	SNV	0x050000000b05040426000100	1	false	137	rs200777664		1565032	true																																														
+MMP23B		__UNKNOWN__	hg19	1	1566160	1566160	+	5'Flank	SNP	T	T	C			__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	NA	NA	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	g.chr1:1566160T>C	ENST00000356026.5	+						MMP23B_ENST00000378675.3_5'Flank						__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__								__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__		AGGACACCCTTCAGGCGCGGG	0.743142144638404	__UNKNOWN__	__UNKNOWN__								__UNKNOWN__	__UNKNOWN__	__UNKNOWN__																																																											false	false		false	false			false	false	false		false	false	false	false	false	false	false	false	false	false	false	false	false	false	false	false	false	false	false	false	false	false		false		false		false	false	false				false					false																																														
 CDK11B		__UNKNOWN__	hg19	1	1572310	1572310	+	Silent	SNP	C	C	T			__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	NA	NA	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	g.chr1:1572310C>T	ENST00000407249.3	-	17	1758	c.1758G>A	c.(1756-1758)ccG>ccA	p.P586P	CDK11B_ENST00000317673.7_Silent_p.P584P|CDK11B_ENST00000340677.5_Silent_p.P573P|CDK11B_ENST00000341832.6_Silent_p.P539P						__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__								__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__		TCACCACGACCGGGGTGTAGG	0.655860349127182	__UNKNOWN__	__UNKNOWN__								__UNKNOWN__	__UNKNOWN__	__UNKNOWN__																																																											false	false		false	false			false	false	false		false	false	false	false	false	false	false	false	false	false	false	false	false	false	false	false	false	false	false	false	false	false		false		false		false	false	false				false					false																																														
-SLC35E2B		__UNKNOWN__	hg19	1	1601104	1601104	+	Splice_Site	SNP	G	G	A			__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	NA	NA	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	g.chr1:1601104G>A	ENST00000378662.1	-	8	1594	c.833C>T	c.(832-834)aCg>aTg	p.T278M	SLC35E2B_ENST00000234800.6_Splice_Site_p.T278M						__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__								__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__		GAAACCCACCGTAAAGAAAAC	0.6109725685785536	__UNKNOWN__	__UNKNOWN__								__UNKNOWN__	__UNKNOWN__	__UNKNOWN__						MISSENSE																																																					false	false		false	false			false	false	false		false	false	false	false	false	false	false	false	false	false	false	false	false	false	false	false	false	false	false	false	false	false		false		false		false	false	false				false					false																																														
-SLC35E2B		__UNKNOWN__	hg19	1	1601537	1601537	+	Splice_Site	SNP	G	G	A			__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	NA	NA	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	g.chr1:1601537G>A	ENST00000378662.1	-	7	1522	c.761C>T	c.(760-762)tCg>tTg	p.S254L	SLC35E2B_ENST00000234800.6_Splice_Site_p.S254L						__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__								__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__		TAATACTTACGAGAACCTGTA	0.5112219451371571	__UNKNOWN__	__UNKNOWN__								__UNKNOWN__	__UNKNOWN__	__UNKNOWN__						MISSENSE																																																					false	false		false	false			false	false	false		false	false	false	false	false	false	false	false	false	false	false	false	false	false	false	false	false	false	false	false	false	false		false		false		false	false	false				false					false																																														
+SLC35E2B		__UNKNOWN__	hg19	1	1601104	1601104	+	Splice_Site	SNP	G	G	A			__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	NA	NA	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	g.chr1:1601104G>A	ENST00000378662.1	-	8	1594	c.833C>T	c.(832-834)aCg>aTg	p.T278M	SLC35E2B_ENST00000234800.6_Splice_Site_p.T278M|RP11-345P4.7_ENST00000596308.1_5'Flank						__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__								__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__		GAAACCCACCGTAAAGAAAAC	0.6109725685785536	__UNKNOWN__	__UNKNOWN__								__UNKNOWN__	__UNKNOWN__	__UNKNOWN__						MISSENSE																																																					false	false		false	false			false	false	false		false	false	false	false	false	false	false	false	false	false	false	false	false	false	false	false	false	false	false	false	false	false		false		false		false	false	false				false					false																																														
+SLC35E2B		__UNKNOWN__	hg19	1	1601537	1601537	+	Splice_Site	SNP	G	G	A			__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	NA	NA	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	g.chr1:1601537G>A	ENST00000378662.1	-	7	1522	c.761C>T	c.(760-762)tCg>tTg	p.S254L	SLC35E2B_ENST00000234800.6_Splice_Site_p.S254L|RP11-345P4.7_ENST00000596308.1_5'Flank						__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__								__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__		TAATACTTACGAGAACCTGTA	0.5112219451371571	__UNKNOWN__	__UNKNOWN__								__UNKNOWN__	__UNKNOWN__	__UNKNOWN__						MISSENSE																																																					false	false		false	false			false	false	false		false	false	false	false	false	false	false	false	false	false	false	false	false	false	false	false	false	false	false	false	false	false		false		false		false	false	false				false					false																																														
 SLC35E2B		__UNKNOWN__	hg19	1	1611995	1611995	+	Intron	SNP	A	A	G			__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	NA	NA	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	g.chr1:1611995A>G	ENST00000378662.1	-			c.e3+3710T>C			SLC35E2B_ENST00000234800.6_Intron						__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__								__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__		AGCCAACGTCACACCGACCTG	0.6209476309226932	__UNKNOWN__	__UNKNOWN__								__UNKNOWN__	__UNKNOWN__	__UNKNOWN__																																																											false	false		false	false			false	false	false		false	false	false	false	false	false	false	false	false	false	false	false	false	false	false	false	false	false	false	false	false	false		false		false		false	false	false				false					false																																														
 CDK11A		__UNKNOWN__	hg19	1	1647686	1647686	+	Intron	SNP	A	A	C	909823	byFrequency;by1000genomes	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	NA	NA	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	g.chr1:1647686A>C	ENST00000358779.5	-			c.e5-99T>G			CDK11A_ENST00000356200.3_Intron|CDK11A_ENST00000378633.1_Intron|CDK11A_ENST00000404249.3_Intron|CDK11A_ENST00000357760.2_Intron|CDK11A_ENST00000378638.2_Intron|CDK11A_ENST00000378635.3_Intron|RP1-283E3.8_ENST00000598846.1_RNA						__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__								__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__		CACTTCTGCAACAAATGTGAC	0.5037406483790524	__UNKNOWN__	__UNKNOWN__								__UNKNOWN__	__UNKNOWN__	__UNKNOWN__																																																											true	false	0.248,0.752	false	false	1		false	true	true	CDK11A:728642	true	true	true	true	true	false	false	false	false	false	false	false	false	false	false	false	false	false	false	false	false	false	0	true	0	false		false	false	false	SNV	0x05010008000517053f000100	1	false	86	rs909823		1647686	true																																														
 CDK11A		__UNKNOWN__	hg19	1	1647780	1647780	+	Intron	SNP	C	C	T	370303160	byFrequency;by1000genomes	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	NA	NA	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	g.chr1:1647780C>T	ENST00000358779.5	-			c.e5-5G>A			CDK11A_ENST00000356200.3_Intron|CDK11A_ENST00000378633.1_Intron|CDK11A_ENST00000404249.3_Intron|CDK11A_ENST00000357760.2_Intron|CDK11A_ENST00000378638.2_Intron|CDK11A_ENST00000378635.3_Intron|RP1-283E3.8_ENST00000598846.1_RNA						__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__								__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__		ACCCAGCCCACTCACCTTTCT	0.47880299251870323	__UNKNOWN__	__UNKNOWN__								__UNKNOWN__	__UNKNOWN__	__UNKNOWN__																																																											true	false	0.9998,0.0001997	false	false	0		false	false	false	CDK11A:728642	false	true	true	false	true	false	false	false	false	false	false	false	false	false	false	false	false	false	false	false	false	false	0	false	0	false		false	false	false	SNV	0x050000080005040426000100	1	false	138	rs370303160		1647780	true																																														
@@ -485,7 +485,7 @@ GNB1		__UNKNOWN__	hg19	1	1776269	1776269	+	Intron	SNP	C	C	A			__UNKNOWN__	__UNKN
 GNB1		__UNKNOWN__	hg19	1	1804302	1804302	+	Intron	SNP	C	C	T			__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	NA	NA	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	g.chr1:1804302C>T	ENST00000378609.4	-			c.e1-17957G>A			GNB1_ENST00000472614.2_Intron						__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__								__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__		AAAGTAAGTACTTGGTAAATA	0.456359102244389	__UNKNOWN__	__UNKNOWN__								__UNKNOWN__	__UNKNOWN__	__UNKNOWN__																																																											false	false		false	false			false	false	false		false	false	false	false	false	false	false	false	false	false	false	false	false	false	false	false	false	false	false	false	false	false		false		false		false	false	false				false					false																																														
 GNB1		__UNKNOWN__	hg19	1	1810090	1810090	+	Intron	SNP	C	C	T			__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	NA	NA	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	g.chr1:1810090C>T	ENST00000378609.4	-			c.e1-12169G>A			GNB1_ENST00000472614.2_Intron						__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__								__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__		CTCACCAAGGCAAGTTGGCAT	0.5037406483790524	__UNKNOWN__	__UNKNOWN__								__UNKNOWN__	__UNKNOWN__	__UNKNOWN__																																																											false	false		false	false			false	false	false		false	false	false	false	false	false	false	false	false	false	false	false	false	false	false	false	false	false	false	false	false	false		false		false		false	false	false				false					false																																														
 GNB1		__UNKNOWN__	hg19	1	1812521	1812521	+	Intron	SNP	C	C	T			__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	NA	NA	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	g.chr1:1812521C>T	ENST00000378609.4	-			c.e1-9738G>A			GNB1_ENST00000472614.2_Intron						__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__								__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__		TAAGGCCTGCCGTACCCTCGA	0.5037406483790524	__UNKNOWN__	__UNKNOWN__								__UNKNOWN__	__UNKNOWN__	__UNKNOWN__																																																											false	false		false	false			false	false	false		false	false	false	false	false	false	false	false	false	false	false	false	false	false	false	false	false	false	false	false	false	false		false		false		false	false	false				false					false																																														
-GNB1		__UNKNOWN__	hg19	1	1818129	1818129	+	Intron	SNP	A	A	C			__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	NA	NA	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	g.chr1:1818129A>C	ENST00000378609.4	-			c.e1-4130T>G			GNB1_ENST00000472614.2_Intron						__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__								__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__		ATCAGAATGTAAACCAGTTTA	0.4239401496259352	__UNKNOWN__	__UNKNOWN__								__UNKNOWN__	__UNKNOWN__	__UNKNOWN__																																																											false	false		false	false			false	false	false		false	false	false	false	false	false	false	false	false	false	false	false	false	false	false	false	false	false	false	false	false	false		false		false		false	false	false				false					false																																														
+GNB1		__UNKNOWN__	hg19	1	1818129	1818129	+	Intron	SNP	A	A	C			__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	NA	NA	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	g.chr1:1818129A>C	ENST00000378609.4	-			c.e1-4130T>G			GNB1_ENST00000472614.2_Intron|RP1-140A9.1_ENST00000412228.1_5'Flank						__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__								__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__		ATCAGAATGTAAACCAGTTTA	0.4239401496259352	__UNKNOWN__	__UNKNOWN__								__UNKNOWN__	__UNKNOWN__	__UNKNOWN__																																																											false	false		false	false			false	false	false		false	false	false	false	false	false	false	false	false	false	false	false	false	false	false	false	false	false	false	false	false	false		false		false		false	false	false				false					false																																														
 CALML6		__UNKNOWN__	hg19	1	1846765	1846765	+	Intron	SNP	G	G	A			__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	NA	NA	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	g.chr1:1846765G>A	ENST00000307786.3	+			c.e1+19G>A			CALML6_ENST00000462293.1_5'Flank						__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__								__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__		TGACAGCATGGGACCAGGGTC	0.5985037406483791	__UNKNOWN__	__UNKNOWN__								__UNKNOWN__	__UNKNOWN__	__UNKNOWN__																																																											false	false		false	false			false	false	false		false	false	false	false	false	false	false	false	false	false	false	false	false	false	false	false	false	false	false	false	false	false		false		false		false	false	false				false					false																																														
 CALML6		__UNKNOWN__	hg19	1	1847531	1847531	+	Intron	SNP	C	C	T			__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	NA	NA	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	g.chr1:1847531C>T	ENST00000307786.3	+			c.e3-349C>T			CALML6_ENST00000462293.1_Intron						__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__								__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__		CTCCTCCCCACCCTGCTCTCG	0.6733167082294265	__UNKNOWN__	__UNKNOWN__								__UNKNOWN__	__UNKNOWN__	__UNKNOWN__																																																											false	false		false	false			false	false	false		false	false	false	false	false	false	false	false	false	false	false	false	false	false	false	false	false	false	false	false	false	false		false		false		false	false	false				false					false																																														
 TMEM52		__UNKNOWN__	hg19	1	1852484	1852484	+	5'Flank	SNP	A	A	G			__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	NA	NA	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	g.chr1:1852484A>G	ENST00000310991.3	-						TMEM52_ENST00000378602.3_5'Flank						__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__								__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__		CCCATTGGACAGAAATCCTGC	0.6408977556109726	__UNKNOWN__	__UNKNOWN__								__UNKNOWN__	__UNKNOWN__	__UNKNOWN__																																																											false	false		false	false			false	false	false		false	false	false	false	false	false	false	false	false	false	false	false	false	false	false	false	false	false	false	false	false	false		false		false		false	false	false				false					false																																														
@@ -577,7 +577,7 @@ C1orf86		__UNKNOWN__	hg19	1	2135002	2135002	+	5'Flank	SNP	C	C	T			__UNKNOWN__	__
 C1orf86		__UNKNOWN__	hg19	1	2135002	2135002	+	5'Flank	SNP	C	C	T			__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	NA	NA	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	g.chr1:2135002C>T	ENST00000378545.3	-						C1orf86_ENST00000487186.1_Splice_Site						__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__								__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__		GTGCCCCTCACCTGGGGTGGA	0.6533665835411472	__UNKNOWN__	__UNKNOWN__								__UNKNOWN__	__UNKNOWN__	__UNKNOWN__																																																											false	false		false	false			false	false	false		false	false	false	false	false	false	false	false	false	false	false	false	false	false	false	false	false	false	false	false	false	false		false		false		false	false	false				false					false																																														
 C1orf86		__UNKNOWN__	hg19	1	2143168	2143168	+	Intron	SNP	A	A	G			__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	NA	NA	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	g.chr1:2143168A>G	ENST00000487186.1	-			c.e2-643T>C			RP11-181G12.4_ENST00000442483.2_5'Flank						__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__								__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__		GATTACAGGCATGAGCCACCG	0.5411471321695761	__UNKNOWN__	__UNKNOWN__								__UNKNOWN__	__UNKNOWN__	__UNKNOWN__																																																											false	false		false	false			false	false	false		false	false	false	false	false	false	false	false	false	false	false	false	false	false	false	false	false	false	false	false	false	false		false		false		false	false	false				false					false																																														
 AL590822.1		__UNKNOWN__	hg19	1	2143491	2143491	+	3'UTR	SNP	G	G	A			__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	NA	NA	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	g.chr1:2143491G>A	ENST00000545087.1	-	1					C1orf86_ENST00000487186.1_Intron|RP11-181G12.4_ENST00000442483.2_5'Flank						__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__								__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__		ACAGGCGCCCGCCACCACGCC	0.571072319201995	__UNKNOWN__	__UNKNOWN__								__UNKNOWN__	__UNKNOWN__	__UNKNOWN__																																																											false	false		false	false			false	false	false		false	false	false	false	false	false	false	false	false	false	false	false	false	false	false	false	false	false	false	false	false	false		false		false		false	false	false				false					false																																														
-C1orf86		__UNKNOWN__	hg19	1	2146966	2146966	+	5'Flank	SNP	T	T	C	7512482	byFrequency;by1000genomes	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	NA	NA	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	g.chr1:2146966T>C	ENST00000487186.1	-						AL590822.1_ENST00000545087.1_5'Flank|RP11-181G12.4_ENST00000442483.2_RNA						__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__								__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__		AGGACCTGCGTGAAGGAGCCC	0.6758104738154613	__UNKNOWN__	__UNKNOWN__								__UNKNOWN__	__UNKNOWN__	__UNKNOWN__																																																											true	false	0.7963,0.2037	false	false	1		false	true	true		true	true	false	true	true	false	false	false	false	false	false	false	false	false	false	false	false	false	false	false	false	false	0	true	0	false	0.761969,0.238031	false	false	false	SNV	0x05010000000517053f000100	1	false	116	rs7512482		2146966	true																																														
+C1orf86		__UNKNOWN__	hg19	1	2146966	2146966	+	5'Flank	SNP	T	T	C	7512482	byFrequency;by1000genomes	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	NA	NA	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	g.chr1:2146966T>C	ENST00000487186.1	-						AL590822.1_ENST00000545087.1_5'Flank|RP11-181G12.4_ENST00000442483.2_RNA|RP11-181G12.5_ENST00000420964.1_5'Flank						__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__								__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__		AGGACCTGCGTGAAGGAGCCC	0.6758104738154613	__UNKNOWN__	__UNKNOWN__								__UNKNOWN__	__UNKNOWN__	__UNKNOWN__																																																											true	false	0.7963,0.2037	false	false	1		false	true	true		true	true	false	true	true	false	false	false	false	false	false	false	false	false	false	false	false	false	false	false	false	false	0	true	0	false	0.761969,0.238031	false	false	false	SNV	0x05010000000517053f000100	1	false	116	rs7512482		2146966	true																																														
 SKI		__UNKNOWN__	hg19	1	2156362	2156362	+	5'Flank	SNP	A	A	G			__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	NA	NA	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	g.chr1:2156362A>G	ENST00000378536.4	+												__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__								__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__		CAAGCTCAGGAAGAAAAGTGG	0.6408977556109726	__UNKNOWN__	__UNKNOWN__								__UNKNOWN__	__UNKNOWN__	__UNKNOWN__																																																											false	false		false	false			false	false	false		false	false	false	false	false	false	false	false	false	false	false	false	false	false	false	false	false	false	false	false	false	false		false		false		false	false	false				false					false																																														
 SKI		__UNKNOWN__	hg19	1	2173504	2173504	+	Intron	SNP	T	T	C			__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	NA	NA	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	g.chr1:2173504T>C	ENST00000378536.4	+			c.e1+12330T>C									__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__								__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__		CAATATCTTGTTGGGAGGCAG	0.571072319201995	__UNKNOWN__	__UNKNOWN__								__UNKNOWN__	__UNKNOWN__	__UNKNOWN__																																																											false	false		false	false			false	false	false		false	false	false	false	false	false	false	false	false	false	false	false	false	false	false	false	false	false	false	false	false	false		false		false		false	false	false				false					false																																														
 SKI		__UNKNOWN__	hg19	1	2173811	2173811	+	Intron	SNP	C	C	T			__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	NA	NA	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	g.chr1:2173811C>T	ENST00000378536.4	+			c.e1+12637C>T									__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__								__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__		TGTTTGTTCACGTCAGGGGAG	0.516209476309227	__UNKNOWN__	__UNKNOWN__								__UNKNOWN__	__UNKNOWN__	__UNKNOWN__																																																											false	false		false	false			false	false	false		false	false	false	false	false	false	false	false	false	false	false	false	false	false	false	false	false	false	false	false	false	false		false		false		false	false	false				false					false																																														
@@ -592,7 +592,7 @@ SKI		__UNKNOWN__	hg19	1	2220649	2220649	+	Intron	SNP	C	C	T			__UNKNOWN__	__UNKNO
 SKI		__UNKNOWN__	hg19	1	2223866	2223866	+	Intron	SNP	C	C	T			__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	NA	NA	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	g.chr1:2223866C>T	ENST00000378536.4	+			c.e2-10551C>T			SKI_ENST00000478223.2_Intron						__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__								__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__		ATCTAGCAGACGTTCATCAGG	0.6209476309226932	__UNKNOWN__	__UNKNOWN__								__UNKNOWN__	__UNKNOWN__	__UNKNOWN__																																																											false	false		false	false			false	false	false		false	false	false	false	false	false	false	false	false	false	false	false	false	false	false	false	false	false	false	false	false	false		false		false		false	false	false				false					false																																														
 Unknown		__UNKNOWN__	hg19	1	2242298	2242298	+	IGR	SNP	G	G	A			__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	NA	NA	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	g.chr1:2242298G>A	no_transcript													__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__								__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__		GTGCCATGCCGCATGCCAATT	0.6533665835411472	__UNKNOWN__	__UNKNOWN__								__UNKNOWN__	__UNKNOWN__	__UNKNOWN__																																																											false	false		false	false			false	false	false		false	false	false	false	false	false	false	false	false	false	false	false	false	false	false	false	false	false	false	false	false	false		false		false		false	false	false				false					false																																														
 MORN1		__UNKNOWN__	hg19	1	2254910	2254910	+	Intron	SNP	T	T	C	2645075	byFrequency;by1000genomes	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	NA	NA	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	g.chr1:2254910T>C	ENST00000378531.3	-			c.e13-626A>G			AL589739.1_ENST00000600779.1_5'Flank						__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__								__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__		TCAGCCGCGGTGCCCAGGTCC	0.6683291770573566	__UNKNOWN__	__UNKNOWN__								__UNKNOWN__	__UNKNOWN__	__UNKNOWN__																																																											true	false	0.1851,0.8149	false	false	1		false	true	false	MORN1:79906	true	true	true	true	true	false	false	false	false	false	false	false	false	false	false	false	false	false	false	false	true	false	0	true	0	false	0.184606,0.815394	false	false	false	SNV	0x05010008000515053f000100	1	false	100	rs2645075		2254910	true																																														
-MORN1		__UNKNOWN__	hg19	1	2261222	2261222	+	Intron	SNP	C	C	A	2645065	byFrequency;by1000genomes	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	NA	NA	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	g.chr1:2261222C>A	ENST00000378531.3	-			c.e13+5640G>T									__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__								__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__		AGATAGTGTTCCCCAAGGCCC	0.6633416458852868	__UNKNOWN__	__UNKNOWN__								__UNKNOWN__	__UNKNOWN__	__UNKNOWN__																																																											true	false	0.9062,0.09385,.	false	false	1		false	true	false	MORN1:79906	true	true	true	true	true	false	false	false	false	false	false	false	false	false	false	false	false	false	false	false	false	false	0	true	0	false	0.878975,0.121025,.	false	false	false	SNV	0x05010008000515053f000100	1	false	100	rs2645065		2261222	true																																														
+MORN1		__UNKNOWN__	hg19	1	2261222	2261222	+	Intron	SNP	C	C	A	2645065	byFrequency;by1000genomes	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	NA	NA	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	g.chr1:2261222C>A	ENST00000378531.3	-			c.e13+5640G>T			RP4-713A8.1_ENST00000607720.1_5'Flank						__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__								__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__		AGATAGTGTTCCCCAAGGCCC	0.6633416458852868	__UNKNOWN__	__UNKNOWN__								__UNKNOWN__	__UNKNOWN__	__UNKNOWN__																																																											true	false	0.9062,0.09385,.	false	false	1		false	true	false	MORN1:79906	true	true	true	true	true	false	false	false	false	false	false	false	false	false	false	false	false	false	false	false	false	false	0	true	0	false	0.878975,0.121025,.	false	false	false	SNV	0x05010008000515053f000100	1	false	100	rs2645065		2261222	true																																														
 MORN1		__UNKNOWN__	hg19	1	2263888	2263888	+	Intron	SNP	C	C	T	903904	byFrequency;by1000genomes	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	NA	NA	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	g.chr1:2263888C>T	ENST00000378531.3	-			c.e12-4020G>A			MORN1_ENST00000606372.1_Intron						__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__								__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__		GATGGGCGACCCCTGGCCCCG	0.6433915211970075	__UNKNOWN__	__UNKNOWN__								__UNKNOWN__	__UNKNOWN__	__UNKNOWN__																																																											true	false	0.8397,0.1603	false	false	1		false	true	false	MORN1:79906	true	true	true	true	true	false	false	false	false	false	false	false	false	false	false	false	false	false	false	false	false	false	0	true	0	false	0.833665,0.166335	false	false	false	SNV	0x05010008000515053f000101	1	false	86	rs903904		2263888	true																																														
 MORN1		__UNKNOWN__	hg19	1	2268156	2268156	+	Splice_Site	SNP	C	C	G	561543765		__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	NA	NA	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	g.chr1:2268156C>G	ENST00000378531.3	-	11	1344	c.1170G>C	c.(1168-1170)aaG>aaC	p.K390N	MORN1_ENST00000606372.1_Splice_Site						__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__								__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__		GGGCACCCACCTTGTGGAGGC	0.655860349127182	__UNKNOWN__	__UNKNOWN__								__UNKNOWN__	__UNKNOWN__	__UNKNOWN__						MISSENSE																																																					true	false		false	false			false	false	false	MORN1:79906	false	true	false	false	false	false	false	false	false	false	false	true	false	false	false	false	false	false	false	true	false	false	0	false	0	false		false	false	false	SNV	0x050000000a05000402000100	1	false	142	rs561543765		2268156	false																																														
 MORN1		__UNKNOWN__	hg19	1	2280661	2280661	+	Intron	SNP	G	G	A	2055204	byFrequency;by1000genomes	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	NA	NA	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	g.chr1:2280661G>A	ENST00000378531.3	-			c.e10-8210C>T			MORN1_ENST00000606372.1_Intron						__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__								__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__		CCTCAGAGAAGAGAAAAGGAC	0.6084788029925187	__UNKNOWN__	__UNKNOWN__								__UNKNOWN__	__UNKNOWN__	__UNKNOWN__																																																											true	false	0.5178,0.4822	false	false	1		false	true	true	MORN1:79906	true	true	true	true	true	false	false	false	false	false	false	false	false	false	false	false	false	false	false	false	false	false	0	true	0	false	0.608455,0.391545	false	false	false	SNV	0x05010008000517053f000101	1	false	94	rs2055204		2280661	true																																														
@@ -637,7 +637,7 @@ PANK4		__UNKNOWN__	hg19	1	2440415	2440415	+	Silent	SNP	G	G	A	141941464	byFrequen
 PANK4		__UNKNOWN__	hg19	1	2440415	2440415	+	Silent	SNP	G	G	A	141941464	byFrequency;by1000genomes	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	NA	NA	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	g.chr1:2440415G>A	ENST00000378466.3	-	19	2206	c.2193C>T	c.(2191-2193)caC>caT	p.H731H	PANK4_ENST00000435556.3_Silent_p.H692H						__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__								__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__		GGTAGTTTGTGTGGACAGCAC	0.6234413965087282	__UNKNOWN__	__UNKNOWN__								__UNKNOWN__	__UNKNOWN__	__UNKNOWN__																																																											true	false	0.9996,0.0003994	false	false	0		false	false	false	PANK4:55229	false	true	false	false	true	false	false	false	false	false	false	false	false	false	false	false	false	false	false	true	false	true	0	true	0	true	0.998523,0.00147675	false	false	false	SNV	0x050300000305040426000100	1	false	134	rs141941464		2440415	true																																														
 PANK4		__UNKNOWN__	hg19	1	2450734	2450735	+	Frame_Shift_Del	DEL	G	G	-	764053138		__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	NA	NA	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	g.chr1:2450734delG	ENST00000378466.3	-	7	897	c.883delC	c.(883-885)ctgfs	p.L295fs	PANK4_ENST00000435556.3_Frame_Shift_Del_p.L256fs						__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__								__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__		ATGTGCAGCAGGCTCTTCGCC	0.6059850374064838	__UNKNOWN__	__UNKNOWN__								__UNKNOWN__	__UNKNOWN__	__UNKNOWN__																																																											true	false		false	false			false	false	false	PANK4:55229	false	true	false	false	false	false	false	false	false	false	true	false	false	false	false	false	false	false	false	true	false	false	0	false	0	false		false	false	false	DIV	0x050000001205000402000200	1	false	144	rs764053138		2450734	false																																														
 HES5		__UNKNOWN__	hg19	1	2461316	2461316	+	Silent	SNP	C	C	T			__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	NA	NA	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	g.chr1:2461316C>T	ENST00000378453.3	-	2	270	c.189G>A	c.(187-189)gaG>gaA	p.E63E	PANK4_ENST00000378466.3_5'Flank|PANK4_ENST00000435556.3_5'Flank|PANK4_ENST00000491212.1_5'Flank						__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__								__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__		TGACAGCCATCTCCAGGATGT	0.7231920199501247	__UNKNOWN__	__UNKNOWN__								__UNKNOWN__	__UNKNOWN__	__UNKNOWN__																																																											false	false		false	false			false	false	false		false	false	false	false	false	false	false	false	false	false	false	false	false	false	false	false	false	false	false	false	false	false		false		false		false	false	false				false					false																																														
-TNFRSF14		__UNKNOWN__	hg19	1	2493130	2493130	+	Silent	SNP	G	G	A			__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	NA	NA	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	g.chr1:2493130G>A	ENST00000355716.4	+	6	869	c.570G>A	c.(568-570)acG>acA	p.T190T	TNFRSF14_ENST00000409119.1_3'UTR						__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__								__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__		GGCTGGTGACGAAGGCCGGAG	0.6234413965087282	__UNKNOWN__	__UNKNOWN__								__UNKNOWN__	__UNKNOWN__	__UNKNOWN__																																																											false	false		false	false			false	false	false		false	false	false	false	false	false	false	false	false	false	false	false	false	false	false	false	false	false	false	false	false	false		false		false		false	false	false				false					false																																														
+TNFRSF14		__UNKNOWN__	hg19	1	2493130	2493130	+	Silent	SNP	G	G	A			__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	NA	NA	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	g.chr1:2493130G>A	ENST00000355716.4	+	6	869	c.570G>A	c.(568-570)acG>acA	p.T190T	TNFRSF14_ENST00000409119.1_3'UTR|RP3-395M20.8_ENST00000416860.2_5'Flank|RP3-395M20.8_ENST00000452793.1_5'Flank|RP3-395M20.7_ENST00000456687.3_5'Flank						__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__								__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__		GGCTGGTGACGAAGGCCGGAG	0.6234413965087282	__UNKNOWN__	__UNKNOWN__								__UNKNOWN__	__UNKNOWN__	__UNKNOWN__																																																											false	false		false	false			false	false	false		false	false	false	false	false	false	false	false	false	false	false	false	false	false	false	false	false	false	false	false	false	false		false		false		false	false	false				false					false																																														
 FAM213B		__UNKNOWN__	hg19	1	2513216	2513216	+	5'Flank	SNP	C	C	T			__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	NA	NA	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	g.chr1:2513216C>T	ENST00000419916.2	+						RP3-395M20.9_ENST00000424215.1_RNA						__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__								__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__		AAGAAAAGCACAACAGAGAAC	0.48877805486284287	__UNKNOWN__	__UNKNOWN__								__UNKNOWN__	__UNKNOWN__	__UNKNOWN__																																																											false	false		false	false			false	false	false		false	false	false	false	false	false	false	false	false	false	false	false	false	false	false	false	false	false	false	false	false	false		false		false		false	false	false				false					false																																														
 FAM213B		__UNKNOWN__	hg19	1	2519989	2519989	+	Splice_Site	SNP	G	G	T			__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	NA	NA	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	g.chr1:2519989G>T	ENST00000378424.4	+	5	545	c.529G>T	c.(529-531)Gcc>Tcc	p.A177S	FAM213B_ENST00000419916.2_Splice_Site_p.A159S|FAM213B_ENST00000378425.5_Splice_Site_p.A129S|FAM213B_ENST00000444521.2_Splice_Site_p.A147S|FAM213B_ENST00000537325.1_Intron|FAM213B_ENST00000484099.1_Intron						__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__								__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__		CTCCTGACAGGCCAAGGCTGT	0.6359102244389028	__UNKNOWN__	__UNKNOWN__								__UNKNOWN__	__UNKNOWN__	__UNKNOWN__						MISSENSE																																																					false	false		false	false			false	false	false		false	false	false	false	false	false	false	false	false	false	false	false	false	false	false	false	false	false	false	false	false	false		false		false		false	false	false				false					false																																														
 MMEL1		__UNKNOWN__	hg19	1	2526245	2526245	+	Nonsense_Mutation	SNP	T	T	A	200758088	byFrequency	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	NA	NA	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	g.chr1:2526245T>A	ENST00000378412.3	-	17	1834	c.1672A>T	c.(1672-1674)Aag>Tag	p.K558*	MMEL1_ENST00000502556.1_Nonsense_Mutation_p.K401*|MMEL1_ENST00000288709.6_Nonsense_Mutation_p.K549*						__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__								__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__		GGGTCCACCTTTTCCCGAAGC	0.6483790523690773	__UNKNOWN__	__UNKNOWN__								__UNKNOWN__	__UNKNOWN__	__UNKNOWN__																																																											true	false		false	false			false	false	false	MMEL1:79258	false	true	false	false	false	false	false	false	false	false	false	false	true	false	false	false	false	false	false	true	false	true	0	false	0	false	0.999966,3.4343e-005	false	false	false	SNV	0x050200000605040402000100	1	false	137	rs200758088		2526245	true																																														
@@ -687,9 +687,9 @@ CCDC27		__UNKNOWN__	hg19	1	3673329	3673329	+	Nonsense_Mutation	SNP	G	G	T			__UNK
 CCDC27		__UNKNOWN__	hg19	1	3677854	3677854	+	Silent	SNP	C	C	T			__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	NA	NA	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	g.chr1:3677854C>T	ENST00000294600.2	+	5	805	c.721C>T	c.(721-723)Ctg>Ttg	p.L241L							__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__								__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__		GGATCACTGCCTGTCTGAGCT	0.5785536159600998	__UNKNOWN__	__UNKNOWN__								__UNKNOWN__	__UNKNOWN__	__UNKNOWN__																																																											false	false		false	false			false	false	false		false	false	false	false	false	false	false	false	false	false	false	false	false	false	false	false	false	false	false	false	false	false		false		false		false	false	false				false					false																																														
 CCDC27		__UNKNOWN__	hg19	1	3679252	3679252	+	Silent	SNP	G	G	A			__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	NA	NA	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	g.chr1:3679252G>A	ENST00000294600.2	+	6	1014	c.930G>A	c.(928-930)gaG>gaA	p.E310E							__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__								__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__		CCAGACATGAGGAGGAGCTGC	0.6658354114713217	__UNKNOWN__	__UNKNOWN__								__UNKNOWN__	__UNKNOWN__	__UNKNOWN__																																																											false	false		false	false			false	false	false		false	false	false	false	false	false	false	false	false	false	false	false	false	false	false	false	false	false	false	false	false	false		false		false		false	false	false				false					false																																														
 CCDC27		__UNKNOWN__	hg19	1	3680362	3680362	+	Nonsense_Mutation	SNP	C	C	T			__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	NA	NA	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	g.chr1:3680362C>T	ENST00000294600.2	+	8	1498	c.1414C>T	c.(1414-1416)Cga>Tga	p.R472*							__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__								__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__		GAAGGAGCTCCGAGAGCGGAG	0.6259351620947631	__UNKNOWN__	__UNKNOWN__								__UNKNOWN__	__UNKNOWN__	__UNKNOWN__																																																											false	false		false	false			false	false	false		false	false	false	false	false	false	false	false	false	false	false	false	false	false	false	false	false	false	false	false	false	false		false		false		false	false	false				false					false																																														
-CCDC27		__UNKNOWN__	hg19	1	3686357	3686357	+	Nonsense_Mutation	SNP	T	T	G			__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	NA	NA	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	g.chr1:3686357T>G	ENST00000294600.2	+	11	1838	c.1754T>G	c.(1753-1755)tTa>tGa	p.L585*							__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__								__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__		CTCGAGAGGTTAAGGAATAAG	0.5386533665835411	__UNKNOWN__	__UNKNOWN__								__UNKNOWN__	__UNKNOWN__	__UNKNOWN__																																																											false	false		false	false			false	false	false		false	false	false	false	false	false	false	false	false	false	false	false	false	false	false	false	false	false	false	false	false	false		false		false		false	false	false				false					false																																														
-LRRC47		__UNKNOWN__	hg19	1	3696925	3696925	+	3'UTR	SNP	C	C	T			__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	NA	NA	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	g.chr1:3696925C>T	ENST00000378251.1	-	7											__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__								__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__		ACACACTGCACGAGAATATTG	0.4488778054862843	__UNKNOWN__	__UNKNOWN__								__UNKNOWN__	__UNKNOWN__	__UNKNOWN__																																																											false	false		false	false			false	false	false		false	false	false	false	false	false	false	false	false	false	false	false	false	false	false	false	false	false	false	false	false	false		false		false		false	false	false				false					false																																														
-LRRC47		__UNKNOWN__	hg19	1	3698166	3698166	+	Splice_Site	SNP	C	C	T			__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	NA	NA	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	g.chr1:3698166C>T	ENST00000378251.1	-			c.e6+1G>A	c.e6-1								__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__								__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__		TTTTCTTAACCTTAAAAGAAA	0.4613466334164589	__UNKNOWN__	__UNKNOWN__								__UNKNOWN__	__UNKNOWN__	__UNKNOWN__						INTRON																																																					false	false		false	false			false	false	false		false	false	false	false	false	false	false	false	false	false	false	false	false	false	false	false	false	false	false	false	false	false		false		false		false	false	false				false					false																																														
+CCDC27		__UNKNOWN__	hg19	1	3686357	3686357	+	Nonsense_Mutation	SNP	T	T	G			__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	NA	NA	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	g.chr1:3686357T>G	ENST00000294600.2	+	11	1838	c.1754T>G	c.(1753-1755)tTa>tGa	p.L585*	SMIM1_ENST00000444870.2_5'Flank|SMIM1_ENST00000561886.1_5'Flank						__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__								__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__		CTCGAGAGGTTAAGGAATAAG	0.5386533665835411	__UNKNOWN__	__UNKNOWN__								__UNKNOWN__	__UNKNOWN__	__UNKNOWN__																																																											false	false		false	false			false	false	false		false	false	false	false	false	false	false	false	false	false	false	false	false	false	false	false	false	false	false	false	false	false		false		false		false	false	false				false					false																																														
+LRRC47		__UNKNOWN__	hg19	1	3696925	3696925	+	3'UTR	SNP	C	C	T			__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	NA	NA	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	g.chr1:3696925C>T	ENST00000378251.1	-	7					RN7SL574P_ENST00000581512.1_5'Flank|RP1-286D6.5_ENST00000607459.1_5'Flank						__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__								__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__		ACACACTGCACGAGAATATTG	0.4488778054862843	__UNKNOWN__	__UNKNOWN__								__UNKNOWN__	__UNKNOWN__	__UNKNOWN__																																																											false	false		false	false			false	false	false		false	false	false	false	false	false	false	false	false	false	false	false	false	false	false	false	false	false	false	false	false	false		false		false		false	false	false				false					false																																														
+LRRC47		__UNKNOWN__	hg19	1	3698166	3698166	+	Splice_Site	SNP	C	C	T			__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	NA	NA	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	g.chr1:3698166C>T	ENST00000378251.1	-			c.e6+1G>A	c.e6-1		RN7SL574P_ENST00000581512.1_5'Flank|RP1-286D6.5_ENST00000607459.1_5'Flank						__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__								__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__		TTTTCTTAACCTTAAAAGAAA	0.4613466334164589	__UNKNOWN__	__UNKNOWN__								__UNKNOWN__	__UNKNOWN__	__UNKNOWN__						INTRON																																																					false	false		false	false			false	false	false		false	false	false	false	false	false	false	false	false	false	false	false	false	false	false	false	false	false	false	false	false	false		false		false		false	false	false				false					false																																														
 CEP104		__UNKNOWN__	hg19	1	3739988	3739988	+	Splice_Site	SNP	G	G	A			__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	NA	NA	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	g.chr1:3739988G>A	ENST00000378230.3	-	19	2828	c.2503C>T	c.(2503-2505)Cct>Tct	p.P835S							__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__								__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__		GGGCACTCACGGTTGCAATCC	0.5411471321695761	__UNKNOWN__	__UNKNOWN__								__UNKNOWN__	__UNKNOWN__	__UNKNOWN__						MISSENSE																																																					false	false		false	false			false	false	false		false	false	false	false	false	false	false	false	false	false	false	false	false	false	false	false	false	false	false	false	false	false		false		false		false	false	false				false					false																																														
 CEP104		__UNKNOWN__	hg19	1	3743271	3743271	+	Splice_Site	SNP	C	C	A			__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	NA	NA	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	g.chr1:3743271C>A	ENST00000378230.3	-			c.e16-1G>T	c.e16+1								__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__								__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__		TCTTTACATACCCTGATTCTT	0.46384039900249374	__UNKNOWN__	__UNKNOWN__								__UNKNOWN__	__UNKNOWN__	__UNKNOWN__						INTRON																																																					false	false		false	false			false	false	false		false	false	false	false	false	false	false	false	false	false	false	false	false	false	false	false	false	false	false	false	false	false		false		false		false	false	false				false					false																																														
 CEP104		__UNKNOWN__	hg19	1	3751489	3751489	+	Splice_Site	SNP	G	G	A			__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	NA	NA	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	g.chr1:3751489G>A	ENST00000378230.3	-	11	1810	c.1485C>T	c.(1483-1485)tcC>tcT	p.S495S	CEP104_ENST00000460038.1_Splice_Site						__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__								__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__		GGGCACTCACGGAGGTCACAA	0.48129675810473815	__UNKNOWN__	__UNKNOWN__								__UNKNOWN__	__UNKNOWN__	__UNKNOWN__						SILENT																																																					false	false		false	false			false	false	false		false	false	false	false	false	false	false	false	false	false	false	false	false	false	false	false	false	false	false	false	false	false		false		false		false	false	false				false					false																																														
@@ -705,7 +705,7 @@ CEP104		__UNKNOWN__	hg19	1	3765282	3765282	+	Silent	SNP	C	C	T			__UNKNOWN__	__UN
 CEP104		__UNKNOWN__	hg19	1	3765302	3765302	+	Nonsense_Mutation	SNP	T	T	A			__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	NA	NA	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	g.chr1:3765302T>A	ENST00000378230.3	-	3	482	c.157A>T	c.(157-159)Aga>Tga	p.R53*	CEP104_ENST00000378223.3_Nonsense_Mutation_p.R53*						__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__								__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__		ATTCGACATCTCTCCACCATT	0.3790523690773067	__UNKNOWN__	__UNKNOWN__								__UNKNOWN__	__UNKNOWN__	__UNKNOWN__																																																											false	false		false	false			false	false	false		false	false	false	false	false	false	false	false	false	false	false	false	false	false	false	false	false	false	false	false	false	false		false		false		false	false	false				false					false																																														
 DFFB		__UNKNOWN__	hg19	1	3784549	3784549	+	Nonsense_Mutation	SNP	C	C	T	371788433	byFrequency;by1000genomes	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	NA	NA	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	g.chr1:3784549C>T	ENST00000378209.3	+	4	765	c.442C>T	c.(442-444)Cga>Tga	p.R148*	DFFB_ENST00000338895.3_Nonsense_Mutation_p.R148*						__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__								__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__		CTTGGAGTCCCGATTTCAGAG	0.5760598503740648	__UNKNOWN__	__UNKNOWN__								__UNKNOWN__	__UNKNOWN__	__UNKNOWN__																																																											true	false	0.9996,0.0003994	false	false	0		false	false	false	DFFB:1677	false	true	false	false	true	false	false	false	false	false	false	false	true	false	false	false	false	false	false	true	false	true	0	false	0	false		false	false	false	SNV	0x050200000605040426000100	1	false	138	rs371788433		3784549	true																																														
 DFFB		__UNKNOWN__	hg19	1	3789042	3789043	+	Frame_Shift_Del	DEL	T	T	-	755710345	byFrequency	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	NA	NA	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	g.chr1:3789042delT	ENST00000378209.3	+	6	1010	c.688delT	c.(688-690)tttfs	p.F230fs	DFFB_ENST00000338895.3_Frame_Shift_Del_p.F230fs						__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__								__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__		CCAGGGTCCCTTTGACATGGA	0.5885286783042394	__UNKNOWN__	__UNKNOWN__								__UNKNOWN__	__UNKNOWN__	__UNKNOWN__																																																											true	false		false	false			false	false	false	DFFB:1677	false	true	false	false	false	false	false	false	false	false	true	false	false	false	false	false	false	false	false	true	false	false	0	false	0	false		false	false	false	DIV	0x050000001205040402000200	1	false	144	rs755710345		3789042	true																																														
-DFFB		__UNKNOWN__	hg19	1	3800159	3800160	+	Frame_Shift_Del	DEL	G	G	-	777060714		__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	NA	NA	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	g.chr1:3800159delG	ENST00000378209.3	+	7	1193	c.871delG	c.(871-873)ggcfs	p.G291fs							__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__								__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__		GTATTTTTATGGCCTGCTTTT	0.46384039900249374	__UNKNOWN__	__UNKNOWN__								__UNKNOWN__	__UNKNOWN__	__UNKNOWN__																																																											true	false		false	false			false	false	false	DFFB:1677	false	false	false	false	false	false	false	false	false	false	true	false	false	false	false	false	false	false	false	true	false	false	0	false	0	false		false	false	false	DIV	0x050000001205000002000200	1	false	144	rs777060714		3800159	false																																														
+DFFB		__UNKNOWN__	hg19	1	3800159	3800160	+	Frame_Shift_Del	DEL	G	G	-	777060714		__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	NA	NA	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	g.chr1:3800159delG	ENST00000378209.3	+	7	1193	c.871delG	c.(871-873)ggcfs	p.G291fs	AL691523.1_ENST00000579705.1_5'Flank						__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__								__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__		GTATTTTTATGGCCTGCTTTT	0.46384039900249374	__UNKNOWN__	__UNKNOWN__								__UNKNOWN__	__UNKNOWN__	__UNKNOWN__																																																											true	false		false	false			false	false	false	DFFB:1677	false	false	false	false	false	false	false	false	false	false	true	false	false	false	false	false	false	false	false	true	false	false	0	false	0	false		false	false	false	DIV	0x050000001205000002000200	1	false	144	rs777060714		3800159	false																																														
 C1orf174		__UNKNOWN__	hg19	1	3806595	3806595	+	Nonsense_Mutation	SNP	G	G	A			__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	NA	NA	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	g.chr1:3806595G>A	ENST00000361605.3	-	4	760	c.661C>T	c.(661-663)Cga>Tga	p.R221*	C1orf174_ENST00000486765.1_Intron						__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__								__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__		CTGAACTCTCGTCTGCTCATT	0.4314214463840399	__UNKNOWN__	__UNKNOWN__								__UNKNOWN__	__UNKNOWN__	__UNKNOWN__																																																											false	false		false	false			false	false	false		false	false	false	false	false	false	false	false	false	false	false	false	false	false	false	false	false	false	false	false	false	false		false		false		false	false	false				false					false																																														
 C1orf174		__UNKNOWN__	hg19	1	3806595	3806595	+	Nonsense_Mutation	SNP	G	G	A			__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	NA	NA	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	g.chr1:3806595G>A	ENST00000361605.3	-	4	760	c.661C>T	c.(661-663)Cga>Tga	p.R221*	C1orf174_ENST00000486765.1_Intron						__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__								__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__		CTGAACTCTCGTCTGCTCATT	0.4314214463840399	__UNKNOWN__	__UNKNOWN__								__UNKNOWN__	__UNKNOWN__	__UNKNOWN__																																																											false	false		false	false			false	false	false		false	false	false	false	false	false	false	false	false	false	false	false	false	false	false	false	false	false	false	false	false	false		false		false		false	false	false				false					false																																														
 C1orf174		__UNKNOWN__	hg19	1	3807537	3807537	+	Nonsense_Mutation	SNP	G	G	A			__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	NA	NA	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	g.chr1:3807537G>A	ENST00000361605.3	-	3	313	c.214C>T	c.(214-216)Cag>Tag	p.Q72*	C1orf174_ENST00000486765.1_Intron						__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__								__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__		ACAAGCTTCTGTAATTCTGAC	0.47381546134663344	__UNKNOWN__	__UNKNOWN__								__UNKNOWN__	__UNKNOWN__	__UNKNOWN__																																																											false	false		false	false			false	false	false		false	false	false	false	false	false	false	false	false	false	false	false	false	false	false	false	false	false	false	false	false	false		false		false		false	false	false				false					false																																														
@@ -716,9 +716,9 @@ RP13-15E13.1		__UNKNOWN__	hg19	1	3825525	3825525	+	RNA	SNP	C	C	T	35383955	byFreq
 RP13-614K11.1		__UNKNOWN__	hg19	1	4002498	4002498	+	RNA	SNP	T	T	C	7538691	byFrequency;by1000genomes	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	NA	NA	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	g.chr1:4002498T>C	ENST00000412674.1	+			c.e2+1295T>C									__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__								__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__		ATCCACATGCTGAAGTCCTTA	0.456359102244389	__UNKNOWN__	__UNKNOWN__								__UNKNOWN__	__UNKNOWN__	__UNKNOWN__																																																											true	false	0.4375,0.5625	false	false	1		false	true	true	LINC01346:728716	true	true	true	true	true	false	false	false	false	false	false	false	false	false	false	false	false	false	false	false	false	false	0	true	0	false	0.405969,0.594031	false	false	false	SNV	0x05010008000517053f000100	1	false	116	rs7538691		4002498	true																																														
 RP13-614K11.1		__UNKNOWN__	hg19	1	4005693	4005693	+	RNA	SNP	G	G	A	7524279	byFrequency;by1000genomes	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	NA	NA	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	g.chr1:4005693G>A	ENST00000412674.1	+			c.e2+4490G>A									__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__								__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__		GACGGGAGGAGAAAATGCTTC	0.5760598503740648	__UNKNOWN__	__UNKNOWN__								__UNKNOWN__	__UNKNOWN__	__UNKNOWN__																																																											true	false	0.6971,0.3029	false	false	1		false	true	true	LINC01346:728716	true	true	true	true	true	false	false	false	false	false	false	false	false	false	false	false	false	false	false	false	false	false	0	true	0	false	0.703791,0.296209	false	false	false	SNV	0x05010008000517053f000100	1	false	116	rs7524279		4005693	true																																														
 RP13-614K11.1		__UNKNOWN__	hg19	1	4006060	4006060	+	RNA	SNP	T	T	C	7548668	byFrequency;by1000genomes	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	NA	NA	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	g.chr1:4006060T>C	ENST00000412674.1	+			c.e2+4857T>C									__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__								__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__		CAGAGCGGCATCTGGTTGCCA	0.6184538653366584	__UNKNOWN__	__UNKNOWN__								__UNKNOWN__	__UNKNOWN__	__UNKNOWN__																																																											true	false	0.5789,0.4211	false	false	1		false	true	true	LINC01346:728716	true	true	true	true	true	false	false	false	false	false	false	false	false	false	false	false	false	false	false	false	false	false	0	true	0	false	0.550072,0.449928	false	false	false	SNV	0x05010008000517053f000101	1	false	116	rs7548668		4006060	true																																														
-RP13-614K11.1		__UNKNOWN__	hg19	1	4009071	4009071	+	RNA	SNP	T	T	C	10799181	byFrequency;by1000genomes	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	NA	NA	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	g.chr1:4009071T>C	ENST00000412674.1	+			c.e3-3242T>C									__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__								__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__		TTGATTTCCTTTCATCCGTCC	0.5187032418952618	__UNKNOWN__	__UNKNOWN__								__UNKNOWN__	__UNKNOWN__	__UNKNOWN__																																																											true	false	0.8125,0.1875	false	false	1		false	true	true	LINC01346:728716	true	true	true	true	true	false	false	false	false	false	false	false	false	false	false	false	false	false	false	false	false	false	0	true	0	false	0.796964,0.203036	false	false	false	SNV	0x05010008000517053f000101	1	false	120	rs10799181		4009071	true																																														
-RP13-614K11.1		__UNKNOWN__	hg19	1	4009694	4009694	+	RNA	SNP	G	G	A	4654479	byFrequency;by1000genomes	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	NA	NA	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	g.chr1:4009694G>A	ENST00000412674.1	+			c.e3-2619G>A									__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__								__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__		AATTATAGATGTGCTTTGATG	0.42643391521197005	__UNKNOWN__	__UNKNOWN__								__UNKNOWN__	__UNKNOWN__	__UNKNOWN__																																																											true	false	0.8255,0.1745	false	false	1		false	true	true	LINC01346:728716	true	true	true	true	true	false	false	false	false	false	false	false	false	false	false	false	false	false	false	false	false	false	0	true	0	false	0.824713,0.175287	false	false	false	SNV	0x05010008000517053f000101	1	false	111	rs4654479		4009694	true																																														
-RP13-614K11.1		__UNKNOWN__	hg19	1	4009793	4009793	+	RNA	SNP	C	C	T	4654480	byFrequency;by1000genomes	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	NA	NA	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	g.chr1:4009793C>T	ENST00000412674.1	+			c.e3-2520C>T									__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__								__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__		CTCACAGAGTCGCAGCTTGGT	0.428927680798005	__UNKNOWN__	__UNKNOWN__								__UNKNOWN__	__UNKNOWN__	__UNKNOWN__																																																											true	false	0.8079,0.1921	false	false	1		false	true	true	LINC01346:728716	true	true	true	true	true	false	false	false	false	false	false	false	false	false	false	false	false	false	false	false	false	false	0	true	0	false	0.796552,0.203448	false	false	false	SNV	0x050100080005170537000100	1	false	111	rs4654480		4009793	true																																														
+RP13-614K11.1		__UNKNOWN__	hg19	1	4009071	4009071	+	RNA	SNP	T	T	C	10799181	byFrequency;by1000genomes	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	NA	NA	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	g.chr1:4009071T>C	ENST00000412674.1	+			c.e3-3242T>C			RP13-614K11.2_ENST00000425194.1_5'Flank						__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__								__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__		TTGATTTCCTTTCATCCGTCC	0.5187032418952618	__UNKNOWN__	__UNKNOWN__								__UNKNOWN__	__UNKNOWN__	__UNKNOWN__																																																											true	false	0.8125,0.1875	false	false	1		false	true	true	LINC01346:728716	true	true	true	true	true	false	false	false	false	false	false	false	false	false	false	false	false	false	false	false	false	false	0	true	0	false	0.796964,0.203036	false	false	false	SNV	0x05010008000517053f000101	1	false	120	rs10799181		4009071	true																																														
+RP13-614K11.1		__UNKNOWN__	hg19	1	4009694	4009694	+	RNA	SNP	G	G	A	4654479	byFrequency;by1000genomes	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	NA	NA	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	g.chr1:4009694G>A	ENST00000412674.1	+			c.e3-2619G>A			RP13-614K11.2_ENST00000425194.1_5'Flank						__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__								__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__		AATTATAGATGTGCTTTGATG	0.42643391521197005	__UNKNOWN__	__UNKNOWN__								__UNKNOWN__	__UNKNOWN__	__UNKNOWN__																																																											true	false	0.8255,0.1745	false	false	1		false	true	true	LINC01346:728716	true	true	true	true	true	false	false	false	false	false	false	false	false	false	false	false	false	false	false	false	false	false	0	true	0	false	0.824713,0.175287	false	false	false	SNV	0x05010008000517053f000101	1	false	111	rs4654479		4009694	true																																														
+RP13-614K11.1		__UNKNOWN__	hg19	1	4009793	4009793	+	RNA	SNP	C	C	T	4654480	byFrequency;by1000genomes	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	NA	NA	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	g.chr1:4009793C>T	ENST00000412674.1	+			c.e3-2520C>T			RP13-614K11.2_ENST00000425194.1_5'Flank						__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__								__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__		CTCACAGAGTCGCAGCTTGGT	0.428927680798005	__UNKNOWN__	__UNKNOWN__								__UNKNOWN__	__UNKNOWN__	__UNKNOWN__																																																											true	false	0.8079,0.1921	false	false	1		false	true	true	LINC01346:728716	true	true	true	true	true	false	false	false	false	false	false	false	false	false	false	false	false	false	false	false	false	false	0	true	0	false	0.796552,0.203448	false	false	false	SNV	0x050100080005170537000100	1	false	111	rs4654480		4009793	true																																														
 RP5-1166F10.1		__UNKNOWN__	hg19	1	4481215	4481215	+	RNA	SNP	C	C	T			__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	NA	NA	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	g.chr1:4481215C>T	ENST00000423197.1	+			c.e4-1605C>T									__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__								__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__		CTGACCCTTTCGAGGCCAGAT	0.45885286783042395	__UNKNOWN__	__UNKNOWN__								__UNKNOWN__	__UNKNOWN__	__UNKNOWN__																																																											false	false		false	false			false	false	false		false	false	false	false	false	false	false	false	false	false	false	false	false	false	false	false	false	false	false	false	false	false		false		false		false	false	false				false					false																																														
 RP1-37J18.2		__UNKNOWN__	hg19	1	4634978	4634978	+	RNA	SNP	A	A	G			__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	NA	NA	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	g.chr1:4634978A>G	ENST00000420522.1	+			c.e2+2326A>G									__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__								__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__		AGATGTAAATATGGACTCATT	0.3865336658354115	__UNKNOWN__	__UNKNOWN__								__UNKNOWN__	__UNKNOWN__	__UNKNOWN__																																																											false	false		false	false			false	false	false		false	false	false	false	false	false	false	false	false	false	false	false	false	false	false	false	false	false	false	false	false	false		false		false		false	false	false				false					false																																														
 RP1-37J18.2		__UNKNOWN__	hg19	1	4636767	4636767	+	RNA	SNP	T	T	C			__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	NA	NA	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	g.chr1:4636767T>C	ENST00000420522.1	+			c.e2+4115T>C									__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__								__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__		TCATTTTAAGTTCTGTTCATC	0.3640897755610973	__UNKNOWN__	__UNKNOWN__								__UNKNOWN__	__UNKNOWN__	__UNKNOWN__																																																											false	false		false	false			false	false	false		false	false	false	false	false	false	false	false	false	false	false	false	false	false	false	false	false	false	false	false	false	false		false		false		false	false	false				false					false																																														
@@ -770,13 +770,13 @@ RNF207		__UNKNOWN__	hg19	1	6271096	6271096	+	Nonsense_Mutation	SNP	C	C	T			__UNK
 RNF207		__UNKNOWN__	hg19	1	6271178	6271178	+	Splice_Site	SNP	C	C	T			__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	NA	NA	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	g.chr1:6271178C>T	ENST00000377939.4	+	12	1236	c.1109C>T	c.(1108-1110)aCg>aTg	p.T370M	RNF207_ENST00000377948.2_Intron|RNF207_ENST00000483336.1_5'Flank						__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__								__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__		GGTGCTAACACGTGAGCAGCA	0.6608478802992519	__UNKNOWN__	__UNKNOWN__								__UNKNOWN__	__UNKNOWN__	__UNKNOWN__						MISSENSE																																																					false	false		false	false			false	false	false		false	false	false	false	false	false	false	false	false	false	false	false	false	false	false	false	false	false	false	false	false	false		false		false		false	false	false				false					false																																														
 RNF207		__UNKNOWN__	hg19	1	6272342	6272342	+	Nonsense_Mutation	SNP	C	C	T			__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	NA	NA	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	g.chr1:6272342C>T	ENST00000377939.4	+	14	1475	c.1348C>T	c.(1348-1350)Cga>Tga	p.R450*	RNF207_ENST00000377948.2_3'UTR|RNF207_ENST00000483336.1_5'Flank						__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__								__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__		GGAGCTGCACCGAGACCTCAC	0.5860349127182045	__UNKNOWN__	__UNKNOWN__								__UNKNOWN__	__UNKNOWN__	__UNKNOWN__																																																											false	false		false	false			false	false	false		false	false	false	false	false	false	false	false	false	false	false	false	false	false	false	false	false	false	false	false	false	false		false		false		false	false	false				false					false																																														
 RNF207		__UNKNOWN__	hg19	1	6272793	6272793	+	Splice_Site	SNP	G	G	A			__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	NA	NA	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	g.chr1:6272793G>A	ENST00000377939.4	+	15	1661	c.1534G>A	c.(1534-1536)Gcc>Acc	p.A512T	RNF207_ENST00000377948.2_3'UTR|RNF207_ENST00000483336.1_5'Flank						__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__								__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__		GATTTATGAAGGTTCCAGACA	0.5261845386533666	__UNKNOWN__	__UNKNOWN__								__UNKNOWN__	__UNKNOWN__	__UNKNOWN__						MISSENSE																																																					false	false		false	false			false	false	false		false	false	false	false	false	false	false	false	false	false	false	false	false	false	false	false	false	false	false	false	false	false		false		false		false	false	false				false					false																																														
-LINC00337		__UNKNOWN__	hg19	1	6296998	6296998	+	RNA	SNP	C	C	T			__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	NA	NA	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	g.chr1:6296998C>T	ENST00000441724.1	+			c.e2-28C>T			LINC00337_ENST00000429480.2_5'Flank						__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__								__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__		CCCGCCACTGCGCCCGTCTTA	0.543640897755611	__UNKNOWN__	__UNKNOWN__								__UNKNOWN__	__UNKNOWN__	__UNKNOWN__																																																											false	false		false	false			false	false	false		false	false	false	false	false	false	false	false	false	false	false	false	false	false	false	false	false	false	false	false	false	false		false		false		false	false	false				false					false																																														
+ICMT		__UNKNOWN__	hg19	1	6296998	6296998	+	5'Flank	SNP	C	C	T			__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	NA	NA	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	g.chr1:6296998C>T	ENST00000343813.5	-						ICMT_ENST00000362035.3_5'Flank|LINC00337_ENST00000441724.1_RNA|LINC00337_ENST00000429480.2_5'Flank						__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__								__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__		CCCGCCACTGCGCCCGTCTTA	0.543640897755611	__UNKNOWN__	__UNKNOWN__								__UNKNOWN__	__UNKNOWN__	__UNKNOWN__																																																											false	false		false	false			false	false	false		false	false	false	false	false	false	false	false	false	false	false	false	false	false	false	false	false	false	false	false	false	false		false		false		false	false	false				false					false																																														
 GPR153		__UNKNOWN__	hg19	1	6308929	6308929	+	3'UTR	SNP	C	C	A			__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	NA	NA	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	g.chr1:6308929C>A	ENST00000377893.2	-	6											__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__								__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__		ACCCTCCCCCCCCCCGAAGGG	0.6034912718204489	__UNKNOWN__	__UNKNOWN__								__UNKNOWN__	__UNKNOWN__	__UNKNOWN__																																																											false	false		false	false			false	false	false		false	false	false	false	false	false	false	false	false	false	false	false	false	false	false	false	false	false	false	false	false	false		false		false		false	false	false				false					false																																														
 ACOT7		__UNKNOWN__	hg19	1	6378607	6378607	+	Silent	SNP	G	G	A			__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	NA	NA	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	g.chr1:6378607G>A	ENST00000377855.2	-	6	834	c.687C>T	c.(685-687)agC>agT	p.S229S	ACOT7_ENST00000377845.3_Silent_p.S199S|ACOT7_ENST00000608083.1_Silent_p.S187S|ACOT7_ENST00000361521.4_Silent_p.S219S|ACOT7_ENST00000377842.3_Silent_p.S178S|ACOT7_ENST00000541130.1_Silent_p.S199S|ACOT7_ENST00000545482.1_Silent_p.S114S						__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__								__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__		GGTGGATCAAGCTGGACTGGC	0.5236907730673317	__UNKNOWN__	__UNKNOWN__								__UNKNOWN__	__UNKNOWN__	__UNKNOWN__																																																											false	false		false	false			false	false	false		false	false	false	false	false	false	false	false	false	false	false	false	false	false	false	false	false	false	false	false	false	false		false		false		false	false	false				false					false																																														
 ACOT7		__UNKNOWN__	hg19	1	6378607	6378607	+	Silent	SNP	G	G	A			__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	NA	NA	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	g.chr1:6378607G>A	ENST00000377855.2	-	6	834	c.687C>T	c.(685-687)agC>agT	p.S229S	ACOT7_ENST00000377845.3_Silent_p.S199S|ACOT7_ENST00000608083.1_Silent_p.S187S|ACOT7_ENST00000361521.4_Silent_p.S219S|ACOT7_ENST00000377842.3_Silent_p.S178S|ACOT7_ENST00000541130.1_Silent_p.S199S|ACOT7_ENST00000545482.1_Silent_p.S114S						__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__								__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__		GGTGGATCAAGCTGGACTGGC	0.5236907730673317	__UNKNOWN__	__UNKNOWN__								__UNKNOWN__	__UNKNOWN__	__UNKNOWN__																																																											false	false		false	false			false	false	false		false	false	false	false	false	false	false	false	false	false	false	false	false	false	false	false	false	false	false	false	false	false		false		false		false	false	false				false					false																																														
 ACOT7		__UNKNOWN__	hg19	1	6409810	6409810	+	Splice_Site	SNP	C	C	A			__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	NA	NA	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	g.chr1:6409810C>A	ENST00000377855.2	-	2	437	c.290G>T	c.(289-291)gGg>gTg	p.G97V	ACOT7_ENST00000377845.3_Splice_Site_p.G67V|ACOT7_ENST00000608083.1_Splice_Site_p.G55V|ACOT7_ENST00000361521.4_Splice_Site_p.G87V|ACOT7_ENST00000377842.3_Splice_Site_p.G46V|ACOT7_ENST00000541130.1_Splice_Site_p.G67V|ACOT7_ENST00000545482.1_Intron						__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__								__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__		GACCCTTACCCCGTTCTGGCT	0.6109725685785536	__UNKNOWN__	__UNKNOWN__								__UNKNOWN__	__UNKNOWN__	__UNKNOWN__						MISSENSE																																																					false	false		false	false			false	false	false		false	false	false	false	false	false	false	false	false	false	false	false	false	false	false	false	false	false	false	false	false	false		false		false		false	false	false				false					false																																														
-PLEKHG5		__UNKNOWN__	hg19	1	6529605	6529605	+	Splice_Site	SNP	A	A	G	150807400	byFrequency;by1000genomes	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	NA	NA	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	g.chr1:6529605A>G	ENST00000377748.1	-	18	2661	c.2163T>C	c.(2161-2163)ccT>ccC	p.P721P	PLEKHG5_ENST00000340850.5_Splice_Site_p.P644P|PLEKHG5_ENST00000400913.1_Splice_Site_p.P644P|PLEKHG5_ENST00000377732.1_Splice_Site_p.P681P|PLEKHG5_ENST00000400915.3_Splice_Site_p.P700P|PLEKHG5_ENST00000377728.3_Splice_Site_p.P644P|PLEKHG5_ENST00000377740.3_Splice_Site_p.P721P|PLEKHG5_ENST00000377725.1_Splice_Site_p.P644P|PLEKHG5_ENST00000544978.1_Splice_Site_p.P644P|PLEKHG5_ENST00000537245.1_Splice_Site_p.P723P|PLEKHG5_ENST00000377737.2_Splice_Site_p.P644P|PLEKHG5_ENST00000535355.1_Splice_Site_p.P713P						__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__								__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__		GCTCCTTACCAGGGTCCCGTA	0.6084788029925187	__UNKNOWN__	__UNKNOWN__								__UNKNOWN__	__UNKNOWN__	__UNKNOWN__						SILENT																																																					true	false	0.9996,0.0003994	false	false	0		false	false	false	PLEKHG5:57449	false	true	false	false	true	false	false	false	false	false	false	false	false	false	false	false	false	false	false	true	false	true	0	false	0	true	0.997871,0.00212927	false	false	false	SNV	0x050200000305040426000100	1	false	134	rs150807400		6529605	true																																														
-PLEKHG5		__UNKNOWN__	hg19	1	6529605	6529605	+	Splice_Site	SNP	A	A	G	150807400	byFrequency;by1000genomes	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	NA	NA	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	g.chr1:6529605A>G	ENST00000377748.1	-	18	2661	c.2163T>C	c.(2161-2163)ccT>ccC	p.P721P	PLEKHG5_ENST00000340850.5_Splice_Site_p.P644P|PLEKHG5_ENST00000400913.1_Splice_Site_p.P644P|PLEKHG5_ENST00000377732.1_Splice_Site_p.P681P|PLEKHG5_ENST00000400915.3_Splice_Site_p.P700P|PLEKHG5_ENST00000377728.3_Splice_Site_p.P644P|PLEKHG5_ENST00000377740.3_Splice_Site_p.P721P|PLEKHG5_ENST00000377725.1_Splice_Site_p.P644P|PLEKHG5_ENST00000544978.1_Splice_Site_p.P644P|PLEKHG5_ENST00000537245.1_Splice_Site_p.P723P|PLEKHG5_ENST00000377737.2_Splice_Site_p.P644P|PLEKHG5_ENST00000535355.1_Splice_Site_p.P713P						__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__								__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__		GCTCCTTACCAGGGTCCCGTA	0.6084788029925187	__UNKNOWN__	__UNKNOWN__								__UNKNOWN__	__UNKNOWN__	__UNKNOWN__						SILENT																																																					true	false	0.9996,0.0003994	false	false	0		false	false	false	PLEKHG5:57449	false	true	false	false	true	false	false	false	false	false	false	false	false	false	false	false	false	false	false	true	false	true	0	false	0	true	0.997871,0.00212927	false	false	false	SNV	0x050200000305040426000100	1	false	134	rs150807400		6529605	true																																														
+PLEKHG5		__UNKNOWN__	hg19	1	6529605	6529605	+	Splice_Site	SNP	A	A	G	150807400	byFrequency;by1000genomes	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	NA	NA	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	g.chr1:6529605A>G	ENST00000377748.1	-	18	2661	c.2163T>C	c.(2161-2163)ccT>ccC	p.P721P	PLEKHG5_ENST00000340850.5_Splice_Site_p.P644P|PLEKHG5_ENST00000400913.1_Splice_Site_p.P644P|PLEKHG5_ENST00000377732.1_Splice_Site_p.P681P|PLEKHG5_ENST00000400915.3_Splice_Site_p.P700P|PLEKHG5_ENST00000377728.3_Splice_Site_p.P644P|PLEKHG5_ENST00000377740.3_Splice_Site_p.P721P|PLEKHG5_ENST00000377725.1_Splice_Site_p.P644P|PLEKHG5_ENST00000544978.1_Splice_Site_p.P644P|PLEKHG5_ENST00000537245.1_Splice_Site_p.P723P|PLEKHG5_ENST00000377737.2_Splice_Site_p.P644P|PLEKHG5_ENST00000535355.1_Splice_Site_p.P713P|TNFRSF25_ENST00000348333.3_5'Flank|TNFRSF25_ENST00000351748.3_5'Flank|TNFRSF25_ENST00000351959.5_5'Flank|TNFRSF25_ENST00000356876.3_5'Flank|TNFRSF25_ENST00000377782.3_5'Flank|TNFRSF25_ENST00000461703.2_5'Flank						__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__								__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__		GCTCCTTACCAGGGTCCCGTA	0.6084788029925187	__UNKNOWN__	__UNKNOWN__								__UNKNOWN__	__UNKNOWN__	__UNKNOWN__						SILENT																																																					true	false	0.9996,0.0003994	false	false	0		false	false	false	PLEKHG5:57449	false	true	false	false	true	false	false	false	false	false	false	false	false	false	false	false	false	false	false	true	false	true	0	false	0	true	0.997871,0.00212927	false	false	false	SNV	0x050200000305040426000100	1	false	134	rs150807400		6529605	true																																														
+PLEKHG5		__UNKNOWN__	hg19	1	6529605	6529605	+	Splice_Site	SNP	A	A	G	150807400	byFrequency;by1000genomes	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	NA	NA	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	g.chr1:6529605A>G	ENST00000377748.1	-	18	2661	c.2163T>C	c.(2161-2163)ccT>ccC	p.P721P	PLEKHG5_ENST00000340850.5_Splice_Site_p.P644P|PLEKHG5_ENST00000400913.1_Splice_Site_p.P644P|PLEKHG5_ENST00000377732.1_Splice_Site_p.P681P|PLEKHG5_ENST00000400915.3_Splice_Site_p.P700P|PLEKHG5_ENST00000377728.3_Splice_Site_p.P644P|PLEKHG5_ENST00000377740.3_Splice_Site_p.P721P|PLEKHG5_ENST00000377725.1_Splice_Site_p.P644P|PLEKHG5_ENST00000544978.1_Splice_Site_p.P644P|PLEKHG5_ENST00000537245.1_Splice_Site_p.P723P|PLEKHG5_ENST00000377737.2_Splice_Site_p.P644P|PLEKHG5_ENST00000535355.1_Splice_Site_p.P713P|TNFRSF25_ENST00000348333.3_5'Flank|TNFRSF25_ENST00000351748.3_5'Flank|TNFRSF25_ENST00000351959.5_5'Flank|TNFRSF25_ENST00000356876.3_5'Flank|TNFRSF25_ENST00000377782.3_5'Flank|TNFRSF25_ENST00000461703.2_5'Flank						__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__								__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__		GCTCCTTACCAGGGTCCCGTA	0.6084788029925187	__UNKNOWN__	__UNKNOWN__								__UNKNOWN__	__UNKNOWN__	__UNKNOWN__						SILENT																																																					true	false	0.9996,0.0003994	false	false	0		false	false	false	PLEKHG5:57449	false	true	false	false	true	false	false	false	false	false	false	false	false	false	false	false	false	false	false	true	false	true	0	false	0	true	0.997871,0.00212927	false	false	false	SNV	0x050200000305040426000100	1	false	134	rs150807400		6529605	true																																														
 PLEKHG5		__UNKNOWN__	hg19	1	6534226	6534226	+	Splice_Site	SNP	T	T	C	144750655	byFrequency;by1000genomes	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	NA	NA	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	g.chr1:6534226T>C	ENST00000377748.1	-			c.e8+2A>G	c.e8-2		PLEKHG5_ENST00000340850.5_Splice_Site|PLEKHG5_ENST00000400913.1_Splice_Site|PLEKHG5_ENST00000377732.1_Splice_Site|PLEKHG5_ENST00000400915.3_Splice_Site|PLEKHG5_ENST00000377728.3_Splice_Site|PLEKHG5_ENST00000377740.3_Splice_Site|PLEKHG5_ENST00000377725.1_Splice_Site|PLEKHG5_ENST00000544978.1_Splice_Site|PLEKHG5_ENST00000537245.1_Splice_Site|PLEKHG5_ENST00000377737.2_Splice_Site|PLEKHG5_ENST00000535355.1_Splice_Site						__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__								__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__		TGGCTGGGGCTGCATGTGGGG	0.6783042394014963	__UNKNOWN__	__UNKNOWN__								__UNKNOWN__	__UNKNOWN__	__UNKNOWN__						INTRON																																																					true	true	0.9998,0.0001997	false	false	0		false	false	false	PLEKHG5:57449	false	true	false	true	true	false	false	false	false	false	false	false	false	false	false	false	false	false	false	false	false	false	0	false	0	false	0.999828,0.000171715	false	false	false	SNV	0x050000200005040436000100	1	false	134	rs144750655		6534226	true																																														
 PLEKHG5		__UNKNOWN__	hg19	1	6550505	6550505	+	5'UTR	SNP	C	C	T	11806429	byFrequency;by1000genomes	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	NA	NA	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	g.chr1:6550505C>T	ENST00000340850.5	-	1					PLEKHG5_ENST00000377725.1_5'UTR|PLEKHG5_ENST00000377748.1_Intron|PLEKHG5_ENST00000377732.1_Intron|PLEKHG5_ENST00000400915.3_Intron|PLEKHG5_ENST00000377728.3_Intron|PLEKHG5_ENST00000377740.3_Intron|PLEKHG5_ENST00000544978.1_Intron|PLEKHG5_ENST00000537245.1_Intron|PLEKHG5_ENST00000377737.2_Intron|PLEKHG5_ENST00000400913.1_5'Flank|PLEKHG5_ENST00000535355.1_5'Flank						__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__								__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__		CGCGACTCACCTAGGAACAGG	0.6633416458852868	__UNKNOWN__	__UNKNOWN__								__UNKNOWN__	__UNKNOWN__	__UNKNOWN__																																																											true	false	0.8051,0.1949	false	false	1		false	true	true	PLEKHG5:57449	true	true	true	true	true	false	false	false	false	false	false	false	false	false	false	false	false	false	false	false	false	false	0	true	0	false	0.824748,0.175252	false	false	true	SNV	0x05010048000517053f000100	1	false	120	rs11806429		6550505	true																																														
 PLEKHG5		__UNKNOWN__	hg19	1	6579843	6579843	+	5'UTR	SNP	C	C	T	1010584	byFrequency;by1000genomes	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	NA	NA	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	g.chr1:6579843C>T	ENST00000377748.1	-	1					PLEKHG5_ENST00000377740.3_5'UTR|PLEKHG5_ENST00000377737.2_5'UTR						__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__								__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__		ACTTCGCAGCCGCCGCTCACA	0.5860349127182045	__UNKNOWN__	__UNKNOWN__								__UNKNOWN__	__UNKNOWN__	__UNKNOWN__																																																											true	false	0.2646,0.7354	false	false	1		false	true	false	PLEKHG5:57449	true	true	false	true	true	false	false	false	false	false	false	false	false	false	false	false	false	false	false	false	false	false	0	true	0	false	0.306271,0.693729	false	false	true	SNV	0x05010040000515053f000100	1	false	86	rs1010584		6579843	true																																														
@@ -811,7 +811,7 @@ TNFRSF9		__UNKNOWN__	hg19	1	7999982	7999982	+	Nonsense_Mutation	SNP	G	G	A			__UN
 PARK7		__UNKNOWN__	hg19	1	8021973	8021973	+	5'UTR	SNP	G	G	T	35675666	byFrequency;by1000genomes	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	NA	NA	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	g.chr1:8021973G>T	ENST00000377491.1	+	1					PARK7_ENST00000493678.1_Intron|PARK7_ENST00000338639.5_Intron|PARK7_ENST00000377493.5_Intron|PARK7_ENST00000377488.1_5'Flank|PARK7_ENST00000497113.1_5'Flank						__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__								__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__		GCGGGGCCTGGGTCGGGGCCG	0.6583541147132169	__UNKNOWN__	__UNKNOWN__								__UNKNOWN__	__UNKNOWN__	__UNKNOWN__																																																											true	false	0.8518,.,0.1482	false	false	1		false	true	true	PARK7:11315	true	true	true	true	true	false	true	false	false	false	false	false	false	false	false	true	true	false	true	false	false	false	0	true	0	false	0.816402,.,0.183598	false	false	false	SNV	0x0501280a0005170537020100	1	false	126	rs35675666		8021973	true																																														
 PARK7		__UNKNOWN__	hg19	1	8029464	8029464	+	Splice_Site	SNP	G	G	A	749774196		__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	NA	NA	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	g.chr1:8029464G>A	ENST00000493678.1	+	4	319	c.252G>A	c.(250-252)gaG>gaA	p.E84E	PARK7_ENST00000377491.1_Splice_Site_p.E84E|PARK7_ENST00000338639.5_Splice_Site_p.E84E|PARK7_ENST00000377488.1_Splice_Site_p.E84E|PARK7_ENST00000377493.5_Intron|PARK7_ENST00000497113.1_Splice_Site						__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__								__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__		ATTTATCTGAGGTAAAAAATT	0.3192019950124688	__UNKNOWN__	__UNKNOWN__								__UNKNOWN__	__UNKNOWN__	__UNKNOWN__						SILENT																																																					true	false		false	false			false	false	false	PARK7:11315	false	true	true	false	false	false	false	false	false	false	false	false	false	false	false	false	false	false	false	true	false	false	0	false	0	true		false	false	false	SNV	0x050000080305000402000100	1	false	144	rs749774196		8029464	false																																														
 PARK7		__UNKNOWN__	hg19	1	8029464	8029464	+	Splice_Site	SNP	G	G	A	749774196		__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	NA	NA	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	g.chr1:8029464G>A	ENST00000493678.1	+	4	319	c.252G>A	c.(250-252)gaG>gaA	p.E84E	PARK7_ENST00000377491.1_Splice_Site_p.E84E|PARK7_ENST00000338639.5_Splice_Site_p.E84E|PARK7_ENST00000377488.1_Splice_Site_p.E84E|PARK7_ENST00000377493.5_Intron|PARK7_ENST00000497113.1_Splice_Site						__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__								__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__		ATTTATCTGAGGTAAAAAATT	0.3192019950124688	__UNKNOWN__	__UNKNOWN__								__UNKNOWN__	__UNKNOWN__	__UNKNOWN__						SILENT																																																					true	false		false	false			false	false	false	PARK7:11315	false	true	true	false	false	false	false	false	false	false	false	false	false	false	false	false	false	false	false	true	false	false	0	false	0	true		false	false	false	SNV	0x050000080305000402000100	1	false	144	rs749774196		8029464	false																																														
-PARK7		__UNKNOWN__	hg19	1	8045015	8045020	+	In_Frame_Del	DEL	GCC	GCC	-	764877312	byFrequency	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	NA	NA	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	g.chr1:8045015_8045017delGCC	ENST00000493678.1	+	7	537_539	c.471_473delGCC	c.(469-474)gggcct>ggt	p.P158del	PARK7_ENST00000377491.1_In_Frame_Del_p.P158del|PARK7_ENST00000338639.5_In_Frame_Del_p.P158del|PARK7_ENST00000377488.1_In_Frame_Del_p.P158del|PARK7_ENST00000377493.5_In_Frame_Del_p.P138del						__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__								__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__		CAAGCCGGGGGCCTGGGACCAGC	0.4466501240694789	__UNKNOWN__	__UNKNOWN__								__UNKNOWN__	__UNKNOWN__	__UNKNOWN__																																																											true	false		false	false			false	false	false	PARK7:11315	false	true	false	false	false	false	false	false	false	false	false	false	false	false	false	false	false	false	false	false	false	false	0	false	0	false		false	false	false	DIV	0x050000000005040402000200	1	false	144	rs764877312		8045015	true																																														
+PARK7		__UNKNOWN__	hg19	1	8045015	8045020	+	In_Frame_Del	DEL	GCC	GCC	-	764877312	byFrequency	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	NA	NA	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	g.chr1:8045015_8045017delGCC	ENST00000493678.1	+	7	537_539	c.471_473delGCC	c.(469-474)gggcct>ggt	p.P158del	PARK7_ENST00000377491.1_In_Frame_Del_p.P158del|PARK7_ENST00000338639.5_In_Frame_Del_p.P158del|PARK7_ENST00000377488.1_In_Frame_Del_p.P158del|PARK7_ENST00000377493.5_In_Frame_Del_p.P138del|Y_RNA_ENST00000363474.1_5'Flank						__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__								__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__		CAAGCCGGGGGCCTGGGACCAGC	0.4466501240694789	__UNKNOWN__	__UNKNOWN__								__UNKNOWN__	__UNKNOWN__	__UNKNOWN__																																																											true	false		false	false			false	false	false	PARK7:11315	false	true	false	false	false	false	false	false	false	false	false	false	false	false	false	false	false	false	false	false	false	false	0	false	0	false		false	false	false	DIV	0x050000000005040402000200	1	false	144	rs764877312		8045015	true																																														
 ERRFI1		__UNKNOWN__	hg19	1	8073830	8073830	+	3'UTR	SNP	C	C	T			__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	NA	NA	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	g.chr1:8073830C>T	ENST00000469499.1	-	3					ERRFI1_ENST00000474874.1_Intron|ERRFI1_ENST00000377482.5_Missense_Mutation_p.D277N|ERRFI1_ENST00000467067.1_3'UTR						__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__								__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__		TTGTCTTCATCGGAGTTAGGA	0.48877805486284287	__UNKNOWN__	__UNKNOWN__								__UNKNOWN__	__UNKNOWN__	__UNKNOWN__																																																											false	false		false	false			false	false	false		false	false	false	false	false	false	false	false	false	false	false	false	false	false	false	false	false	false	false	false	false	false		false		false		false	false	false				false					false																																														
 ERRFI1		__UNKNOWN__	hg19	1	8073919	8073919	+	3'UTR	SNP	C	C	T			__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	NA	NA	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	g.chr1:8073919C>T	ENST00000469499.1	-	3					ERRFI1_ENST00000474874.1_Intron|ERRFI1_ENST00000377482.5_Missense_Mutation_p.R247K|ERRFI1_ENST00000467067.1_3'UTR						__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__								__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__		ATGAGACCTTCTTAATCTTCG	0.46384039900249374	__UNKNOWN__	__UNKNOWN__								__UNKNOWN__	__UNKNOWN__	__UNKNOWN__																																																											false	false		false	false			false	false	false		false	false	false	false	false	false	false	false	false	false	false	false	false	false	false	false	false	false	false	false	false	false		false		false		false	false	false				false					false																																														
 ERRFI1		__UNKNOWN__	hg19	1	8073925	8073925	+	3'UTR	SNP	C	C	T			__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	NA	NA	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	g.chr1:8073925C>T	ENST00000469499.1	-	3					ERRFI1_ENST00000474874.1_Intron|ERRFI1_ENST00000377482.5_Missense_Mutation_p.R245K|ERRFI1_ENST00000467067.1_3'UTR						__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__								__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__		CCTTCTTAATCTTCGGTGGGT	0.46384039900249374	__UNKNOWN__	__UNKNOWN__								__UNKNOWN__	__UNKNOWN__	__UNKNOWN__																																																											false	false		false	false			false	false	false		false	false	false	false	false	false	false	false	false	false	false	false	false	false	false	false	false	false	false	false	false	false		false		false		false	false	false				false					false																																														
@@ -834,8 +834,8 @@ RP11-431K24.3		__UNKNOWN__	hg19	1	8274018	8274018	+	RNA	SNP	G	G	A			__UNKNOWN__
 RP11-431K24.4		__UNKNOWN__	hg19	1	8278899	8278899	+	RNA	SNP	A	A	C			__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	NA	NA	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	g.chr1:8278899A>C	ENST00000424689.1	-			c.e2+306T>G									__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__								__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__		TGACTTGGTTATTGCGTCACT	0.48877805486284287	__UNKNOWN__	__UNKNOWN__								__UNKNOWN__	__UNKNOWN__	__UNKNOWN__																																																											false	false		false	false			false	false	false		false	false	false	false	false	false	false	false	false	false	false	false	false	false	false	false	false	false	false	false	false	false		false		false		false	false	false				false					false																																														
 RP11-431K24.4		__UNKNOWN__	hg19	1	8280517	8280517	+	RNA	SNP	C	C	T			__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	NA	NA	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	g.chr1:8280517C>T	ENST00000424689.1	-			c.e1+60G>A									__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__								__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__		TGCGACCACACAAGCAAGCAG	0.49875311720698257	__UNKNOWN__	__UNKNOWN__								__UNKNOWN__	__UNKNOWN__	__UNKNOWN__																																																											false	false		false	false			false	false	false		false	false	false	false	false	false	false	false	false	false	false	false	false	false	false	false	false	false	false	false	false	false		false		false		false	false	false				false					false																																														
 RNU6-991P		__UNKNOWN__	hg19	1	8352240	8352240	+	RNA	SNP	C	C	T			__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	NA	NA	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	g.chr1:8352240C>T	ENST00000516168.1	-			c.e1+23G>A									__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__								__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__		GTTTCATGAACCCGCTGGTCA	0.40399002493765584	__UNKNOWN__	__UNKNOWN__								__UNKNOWN__	__UNKNOWN__	__UNKNOWN__																																																											false	false		false	false			false	false	false		false	false	false	false	false	false	false	false	false	false	false	false	false	false	false	false	false	false	false	false	false	false		false		false		false	false	false				false					false																																														
-SLC45A1		__UNKNOWN__	hg19	1	8384785	8384785	+	Splice_Site	SNP	C	C	T			__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	NA	NA	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	g.chr1:8384785C>T	ENST00000471889.1	+	2	781	c.396C>T	c.(394-396)ctC>ctT	p.L132L	SLC45A1_ENST00000289877.8_Splice_Site_p.L132L|SLC45A1_ENST00000377479.2_Splice_Site_p.L166L						__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__								__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__		GCCCCATCCTCGGTGAGCCCC	0.5910224438902744	__UNKNOWN__	__UNKNOWN__								__UNKNOWN__	__UNKNOWN__	__UNKNOWN__						SILENT																																																					false	false		false	false			false	false	false		false	false	false	false	false	false	false	false	false	false	false	false	false	false	false	false	false	false	false	false	false	false		false		false		false	false	false				false					false																																														
-SLC45A1		__UNKNOWN__	hg19	1	8384785	8384785	+	Splice_Site	SNP	C	C	T			__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	NA	NA	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	g.chr1:8384785C>T	ENST00000471889.1	+	2	781	c.396C>T	c.(394-396)ctC>ctT	p.L132L	SLC45A1_ENST00000289877.8_Splice_Site_p.L132L|SLC45A1_ENST00000377479.2_Splice_Site_p.L166L						__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__								__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__		GCCCCATCCTCGGTGAGCCCC	0.5910224438902744	__UNKNOWN__	__UNKNOWN__								__UNKNOWN__	__UNKNOWN__	__UNKNOWN__						SILENT																																																					false	false		false	false			false	false	false		false	false	false	false	false	false	false	false	false	false	false	false	false	false	false	false	false	false	false	false	false	false		false		false		false	false	false				false					false																																														
+SLC45A1		__UNKNOWN__	hg19	1	8384785	8384785	+	Splice_Site	SNP	C	C	T			__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	NA	NA	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	g.chr1:8384785C>T	ENST00000471889.1	+	2	781	c.396C>T	c.(394-396)ctC>ctT	p.L132L	SLC45A1_ENST00000289877.8_Splice_Site_p.L132L|SLC45A1_ENST00000377479.2_Splice_Site_p.L166L|Y_RNA_ENST00000516445.1_5'Flank						__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__								__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__		GCCCCATCCTCGGTGAGCCCC	0.5910224438902744	__UNKNOWN__	__UNKNOWN__								__UNKNOWN__	__UNKNOWN__	__UNKNOWN__						SILENT																																																					false	false		false	false			false	false	false		false	false	false	false	false	false	false	false	false	false	false	false	false	false	false	false	false	false	false	false	false	false		false		false		false	false	false				false					false																																														
+SLC45A1		__UNKNOWN__	hg19	1	8384785	8384785	+	Splice_Site	SNP	C	C	T			__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	NA	NA	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	g.chr1:8384785C>T	ENST00000471889.1	+	2	781	c.396C>T	c.(394-396)ctC>ctT	p.L132L	SLC45A1_ENST00000289877.8_Splice_Site_p.L132L|SLC45A1_ENST00000377479.2_Splice_Site_p.L166L|Y_RNA_ENST00000516445.1_5'Flank						__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__								__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__		GCCCCATCCTCGGTGAGCCCC	0.5910224438902744	__UNKNOWN__	__UNKNOWN__								__UNKNOWN__	__UNKNOWN__	__UNKNOWN__						SILENT																																																					false	false		false	false			false	false	false		false	false	false	false	false	false	false	false	false	false	false	false	false	false	false	false	false	false	false	false	false	false		false		false		false	false	false				false					false																																														
 SLC45A1		__UNKNOWN__	hg19	1	8390888	8390888	+	Silent	SNP	G	G	A			__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	NA	NA	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	g.chr1:8390888G>A	ENST00000471889.1	+	5	1720	c.1335G>A	c.(1333-1335)ccG>ccA	p.P445P	SLC45A1_ENST00000289877.8_Silent_p.P445P|SLC45A1_ENST00000377479.2_Silent_p.P479P|SLC45A1_ENST00000481265.1_Intron						__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__								__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__		CCTCTAAGCCGAGGTCATCAG	0.6384039900249376	__UNKNOWN__	__UNKNOWN__								__UNKNOWN__	__UNKNOWN__	__UNKNOWN__																																																											false	false		false	false			false	false	false		false	false	false	false	false	false	false	false	false	false	false	false	false	false	false	false	false	false	false	false	false	false		false		false		false	false	false				false					false																																														
 SLC45A1		__UNKNOWN__	hg19	1	8399759	8399759	+	Splice_Site	SNP	G	G	A			__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	NA	NA	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	g.chr1:8399759G>A	ENST00000471889.1	+			c.e8+1G>A	c.e8+1		SLC45A1_ENST00000289877.8_Splice_Site|SLC45A1_ENST00000377479.2_Splice_Site						__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__								__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__		GAGTAAGAAGGTAAGTGCTCT	0.5635910224438903	__UNKNOWN__	__UNKNOWN__								__UNKNOWN__	__UNKNOWN__	__UNKNOWN__						INTRON																																																					false	false		false	false			false	false	false		false	false	false	false	false	false	false	false	false	false	false	false	false	false	false	false	false	false	false	false	false	false		false		false		false	false	false				false					false																																														
 SLC45A1		__UNKNOWN__	hg19	1	8404093	8404093	+	3'UTR	SNP	C	C	T			__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	NA	NA	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	g.chr1:8404093C>T	ENST00000471889.1	+	9					SLC45A1_ENST00000289877.8_3'UTR|SLC45A1_ENST00000377479.2_3'UTR						__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__								__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__		GCCTCGACTCCGGACACGCGC	0.5860349127182045	__UNKNOWN__	__UNKNOWN__								__UNKNOWN__	__UNKNOWN__	__UNKNOWN__																																																											false	false		false	false			false	false	false		false	false	false	false	false	false	false	false	false	false	false	false	false	false	false	false	false	false	false	false	false	false		false		false		false	false	false				false					false																																														
@@ -886,7 +886,7 @@ CTNNBIP1		__UNKNOWN__	hg19	1	9931246	9931246	+	Splice_Site	SNP	C	C	A			__UNKNOWN
 CTNNBIP1		__UNKNOWN__	hg19	1	9932027	9932027	+	Splice_Site	SNP	G	G	A			__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	NA	NA	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	g.chr1:9932027G>A	ENST00000377263.1	-	4	408	c.96C>T	c.(94-96)aaC>aaT	p.N32N	CTNNBIP1_ENST00000400904.3_Splice_Site_p.N32N|CTNNBIP1_ENST00000377258.1_Splice_Site_p.N32N|CTNNBIP1_ENST00000377256.1_Splice_Site_p.N32N|CTNNBIP1_ENST00000537447.1_Splice_Site_p.N32N						__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__								__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__		AGGCACTCACGTTTGATCCCA	0.6334164588528678	__UNKNOWN__	__UNKNOWN__								__UNKNOWN__	__UNKNOWN__	__UNKNOWN__						SILENT																																																					false	false		false	false			false	false	false		false	false	false	false	false	false	false	false	false	false	false	false	false	false	false	false	false	false	false	false	false	false		false		false		false	false	false				false					false																																														
 LZIC		__UNKNOWN__	hg19	1	9994823	9994824	+	Frame_Shift_Del	DEL	T	T	-	866608629		__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	NA	NA	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	g.chr1:9994823delT	ENST00000377223.1	-	5	582	c.333delA	c.(331-333)gcafs	p.E112fs	LZIC_ENST00000377213.1_Frame_Shift_Del_p.E112fs|LZIC_ENST00000400903.2_Frame_Shift_Del_p.E112fs|LZIC_ENST00000541052.1_Frame_Shift_Del_p.E133fs						__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__								__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__		ATTTTACCTCTGCTAACCTTG	0.3516209476309227	__UNKNOWN__	__UNKNOWN__								__UNKNOWN__	__UNKNOWN__	__UNKNOWN__																																																											true	false		false	false			false	false	false	LZIC:84328	false	true	false	false	false	false	false	false	false	false	true	false	false	false	false	false	false	false	false	true	false	false	0	false	0	false		false	false	false	DIV	0x050000001205000402000200	1	false	147	rs866608629		9994823	false																																														
 LZIC		__UNKNOWN__	hg19	1	9996684	9996684	+	5'UTR	SNP	C	C	T	199633051	byFrequency	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	NA	NA	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	g.chr1:9996684C>T	ENST00000377223.1	-	3					LZIC_ENST00000377213.1_5'UTR|LZIC_ENST00000400903.2_5'UTR|LZIC_ENST00000541052.1_Splice_Site_p.E19E						__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__								__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__		CCATTTTAATCTCTATGTGAA	0.4139650872817955	__UNKNOWN__	__UNKNOWN__								__UNKNOWN__	__UNKNOWN__	__UNKNOWN__																																																											true	false		false	false			false	false	false	LZIC:84328	false	true	false	false	false	false	false	false	false	false	false	false	false	false	false	false	false	false	false	true	false	false	0	false	0	true		false	false	true	SNV	0x050000400305040402000100	1	false	137	rs199633051		9996684	true																																														
-NMNAT1		__UNKNOWN__	hg19	1	10042426	10042426	+	Nonsense_Mutation	SNP	G	G	A			__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	NA	NA	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	g.chr1:10042426G>A	ENST00000377205.1	+	5	651	c.507G>A	c.(505-507)tgG>tgA	p.W169*							__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__								__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__		CCAATTTGTGGAAGAGTGAAG	0.45885286783042395	__UNKNOWN__	__UNKNOWN__								__UNKNOWN__	__UNKNOWN__	__UNKNOWN__																																																											false	false		false	false			false	false	false		false	false	false	false	false	false	false	false	false	false	false	false	false	false	false	false	false	false	false	false	false	false		false		false		false	false	false				false					false																																														
+NMNAT1		__UNKNOWN__	hg19	1	10042426	10042426	+	Nonsense_Mutation	SNP	G	G	A			__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	NA	NA	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	g.chr1:10042426G>A	ENST00000377205.1	+	5	651	c.507G>A	c.(505-507)tgG>tgA	p.W169*	RP11-807G9.2_ENST00000413148.1_5'Flank						__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__								__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__		CCAATTTGTGGAAGAGTGAAG	0.45885286783042395	__UNKNOWN__	__UNKNOWN__								__UNKNOWN__	__UNKNOWN__	__UNKNOWN__																																																											false	false		false	false			false	false	false		false	false	false	false	false	false	false	false	false	false	false	false	false	false	false	false	false	false	false	false	false	false		false		false		false	false	false				false					false																																														
 KIF1B		__UNKNOWN__	hg19	1	10438687	10438687	+	3'UTR	SNP	C	C	T			__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	NA	NA	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	g.chr1:10438687C>T	ENST00000377081.1	+	48					KIF1B_ENST00000377086.1_3'UTR						__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__								__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__		TCCCGCTTCACGCAGCAAAGG	0.5087281795511222	__UNKNOWN__	__UNKNOWN__								__UNKNOWN__	__UNKNOWN__	__UNKNOWN__																																																											false	false		false	false			false	false	false		false	false	false	false	false	false	false	false	false	false	false	false	false	false	false	false	false	false	false	false	false	false		false		false		false	false	false				false					false																																														
 PGD		__UNKNOWN__	hg19	1	10478955	10478956	+	Frame_Shift_Del	DEL	C	C	-	767877628		__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	NA	NA	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	g.chr1:10478955delC	ENST00000270776.8	+	11	1219	c.1182delC	c.(1180-1182)ttcfs	p.F395fs	PGD_ENST00000538557.1_Frame_Shift_Del_p.F382fs|PGD_ENST00000541529.1_Frame_Shift_Del_p.F373fs|PGD_ENST00000498356.1_Intron						__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__								__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__		TGGACGACTTCTTTAAGTCAG	0.46384039900249374	__UNKNOWN__	__UNKNOWN__								__UNKNOWN__	__UNKNOWN__	__UNKNOWN__																																																											true	false		false	false			false	false	false	PGD:5226	false	true	false	false	false	false	false	false	false	false	true	false	false	false	false	false	false	false	false	true	false	false	0	false	0	false		false	false	false	DIV	0x050000001205000402000200	1	false	144	rs767877628		10478955	false																																														
 APITD1		__UNKNOWN__	hg19	1	10489949	10489949	+	5'Flank	SNP	G	G	A			__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	NA	NA	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	g.chr1:10489949G>A	ENST00000309048.3	+						APITD1-CORT_ENST00000400900.2_5'Flank|APITD1_ENST00000462462.1_5'Flank|APITD1-CORT_ENST00000465026.1_5'Flank|APITD1-CORT_ENST00000470413.2_5'Flank|APITD1_ENST00000602296.1_5'Flank|APITD1_ENST00000602787.1_5'Flank|RP4-736L20.3_ENST00000607572.1_RNA						__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__								__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__		TGGGTTTGATGGTCTCACTTC	0.4688279301745636	__UNKNOWN__	__UNKNOWN__								__UNKNOWN__	__UNKNOWN__	__UNKNOWN__																																																											false	false		false	false			false	false	false		false	false	false	false	false	false	false	false	false	false	false	false	false	false	false	false	false	false	false	false	false	false		false		false		false	false	false				false					false																																														
@@ -895,16 +895,16 @@ APITD1		__UNKNOWN__	hg19	1	10502373	10502373	+	Nonsense_Mutation	SNP	C	C	T			__U
 APITD1		__UNKNOWN__	hg19	1	10502710	10502710	+	3'UTR	SNP	A	A	G			__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	NA	NA	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	g.chr1:10502710A>G	ENST00000309048.3	+	5					APITD1-CORT_ENST00000400900.2_Intron|APITD1-CORT_ENST00000470413.2_Intron|APITD1_ENST00000602787.1_Intron|APITD1_ENST00000602296.1_Intron|APITD1-CORT_ENST00000465026.1_Intron						__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__								__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__		GTGTGTGATCAAATGGTATAT	0.32169576059850374	__UNKNOWN__	__UNKNOWN__								__UNKNOWN__	__UNKNOWN__	__UNKNOWN__																																																											false	false		false	false			false	false	false		false	false	false	false	false	false	false	false	false	false	false	false	false	false	false	false	false	false	false	false	false	false		false		false		false	false	false				false					false																																														
 PEX14		__UNKNOWN__	hg19	1	10596294	10596294	+	Nonsense_Mutation	SNP	C	C	T			__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	NA	NA	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	g.chr1:10596294C>T	ENST00000356607.4	+	3	189	c.109C>T	c.(109-111)Cag>Tag	p.Q37*	PEX14_ENST00000538836.1_Intron|PEX14_ENST00000492696.1_Intron						__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__								__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__		GAAGTTTCTACAGAATTCCCG	0.48877805486284287	__UNKNOWN__	__UNKNOWN__								__UNKNOWN__	__UNKNOWN__	__UNKNOWN__																																																											false	false		false	false			false	false	false		false	false	false	false	false	false	false	false	false	false	false	false	false	false	false	false	false	false	false	false	false	false		false		false		false	false	false				false					false																																														
 C1orf127		__UNKNOWN__	hg19	1	11015136	11015136	+	Nonsense_Mutation	SNP	G	G	A			__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	NA	NA	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	g.chr1:11015136G>A	ENST00000377004.4	-	9	886	c.886C>T	c.(886-888)Cga>Tga	p.R296*	C1orf127_ENST00000377008.4_Nonsense_Mutation_p.R129*						__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__								__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__		TGGTGGACTCGGAGGAATCTG	0.543640897755611	__UNKNOWN__	__UNKNOWN__								__UNKNOWN__	__UNKNOWN__	__UNKNOWN__																																																											false	false		false	false			false	false	false		false	false	false	false	false	false	false	false	false	false	false	false	false	false	false	false	false	false	false	false	false	false		false		false		false	false	false				false					false																																														
-MASP2		__UNKNOWN__	hg19	1	11087334	11087334	+	Nonsense_Mutation	SNP	C	C	A			__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	NA	NA	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	g.chr1:11087334C>A	ENST00000400897.3	-	11	1685	c.1669G>T	c.(1669-1671)Gaa>Taa	p.E557*							__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__								__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__		GATTCAGCTTCTTTTCTTGGC	0.4089775561097257	__UNKNOWN__	__UNKNOWN__								__UNKNOWN__	__UNKNOWN__	__UNKNOWN__																																																											false	false		false	false			false	false	false		false	false	false	false	false	false	false	false	false	false	false	false	false	false	false	false	false	false	false	false	false	false		false		false		false	false	false				false					false																																														
+MASP2		__UNKNOWN__	hg19	1	11087334	11087334	+	Nonsense_Mutation	SNP	C	C	A			__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	NA	NA	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	g.chr1:11087334C>A	ENST00000400897.3	-	11	1685	c.1669G>T	c.(1669-1671)Gaa>Taa	p.E557*	RP4-635E18.8_ENST00000607145.1_5'Flank						__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__								__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__		GATTCAGCTTCTTTTCTTGGC	0.4089775561097257	__UNKNOWN__	__UNKNOWN__								__UNKNOWN__	__UNKNOWN__	__UNKNOWN__																																																											false	false		false	false			false	false	false		false	false	false	false	false	false	false	false	false	false	false	false	false	false	false	false	false	false	false	false	false	false		false		false		false	false	false				false					false																																														
 MASP2		__UNKNOWN__	hg19	1	11097774	11097774	+	Nonsense_Mutation	SNP	G	G	T			__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	NA	NA	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	g.chr1:11097774G>T	ENST00000400897.3	-	7	1000	c.984C>A	c.(982-984)tgC>tgA	p.C328*							__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__								__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__		AGCCAGTCTCGCAAAAGATGG	0.4089775561097257	__UNKNOWN__	__UNKNOWN__								__UNKNOWN__	__UNKNOWN__	__UNKNOWN__																																																											false	false		false	false			false	false	false		false	false	false	false	false	false	false	false	false	false	false	false	false	false	false	false	false	false	false	false	false	false		false		false		false	false	false				false					false																																														
 MASP2		__UNKNOWN__	hg19	1	11106783	11106783	+	Nonsense_Mutation	SNP	G	G	T			__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	NA	NA	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	g.chr1:11106783G>T	ENST00000400897.3	-	3	258	c.242C>A	c.(241-243)tCg>tAg	p.S81*	MASP2_ENST00000400898.3_Nonsense_Mutation_p.S81*						__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__								__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__		CTTGGCCCCCGAGCTCAGCTG	0.6433915211970075	__UNKNOWN__	__UNKNOWN__								__UNKNOWN__	__UNKNOWN__	__UNKNOWN__																																																											false	false		false	false			false	false	false		false	false	false	false	false	false	false	false	false	false	false	false	false	false	false	false	false	false	false	false	false	false		false		false		false	false	false				false					false																																														
-EXOSC10		__UNKNOWN__	hg19	1	11128123	11128123	+	Nonsense_Mutation	SNP	T	T	A			__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	NA	NA	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	g.chr1:11128123T>A	ENST00000376936.4	-	24	2619	c.2569A>T	c.(2569-2571)Aaa>Taa	p.K857*	EXOSC10_ENST00000304457.7_Nonsense_Mutation_p.K832*|EXOSC10_ENST00000544779.1_3'UTR						__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__								__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__		TGTTTAATTTTTTTGGCTGCA	0.5311720698254364	__UNKNOWN__	__UNKNOWN__								__UNKNOWN__	__UNKNOWN__	__UNKNOWN__																																																											false	false		false	false			false	false	false		false	false	false	false	false	false	false	false	false	false	false	false	false	false	false	false	false	false	false	false	false	false		false		false		false	false	false				false					false																																														
+EXOSC10		__UNKNOWN__	hg19	1	11128123	11128123	+	Nonsense_Mutation	SNP	T	T	A			__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	NA	NA	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	g.chr1:11128123T>A	ENST00000376936.4	-	24	2619	c.2569A>T	c.(2569-2571)Aaa>Taa	p.K857*	EXOSC10_ENST00000304457.7_Nonsense_Mutation_p.K832*|EXOSC10_ENST00000544779.1_3'UTR|RP4-635E18.7_ENST00000452378.1_5'Flank						__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__								__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__		TGTTTAATTTTTTTGGCTGCA	0.5311720698254364	__UNKNOWN__	__UNKNOWN__								__UNKNOWN__	__UNKNOWN__	__UNKNOWN__																																																											false	false		false	false			false	false	false		false	false	false	false	false	false	false	false	false	false	false	false	false	false	false	false	false	false	false	false	false	false		false		false		false	false	false				false					false																																														
 EXOSC10		__UNKNOWN__	hg19	1	11147637	11147637	+	Nonsense_Mutation	SNP	G	G	T			__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	NA	NA	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	g.chr1:11147637G>T	ENST00000376936.4	-	9	1007	c.957C>A	c.(955-957)taC>taA	p.Y319*	EXOSC10_ENST00000304457.7_Nonsense_Mutation_p.Y319*|EXOSC10_ENST00000544779.1_Nonsense_Mutation_p.Y319*|EXOSC10_ENST00000485606.1_5'Flank						__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__								__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__		GGAAGCTCCTGTAAGAGTGGT	0.38403990024937656	__UNKNOWN__	__UNKNOWN__								__UNKNOWN__	__UNKNOWN__	__UNKNOWN__																																																											false	false		false	false			false	false	false		false	false	false	false	false	false	false	false	false	false	false	false	false	false	false	false	false	false	false	false	false	false		false		false		false	false	false				false					false																																														
 ANGPTL7		__UNKNOWN__	hg19	1	11253688	11253688	+	Nonsense_Mutation	SNP	C	C	T			__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	NA	NA	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	g.chr1:11253688C>T	ENST00000376819.3	+	3	768	c.529C>T	c.(529-531)Cga>Tga	p.R177*	MTOR_ENST00000361445.4_Intron|ANGPTL7_ENST00000476934.1_Intron						__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__								__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__		CATCCAGAGACGAAAAAGTGG	0.5960099750623441	__UNKNOWN__	__UNKNOWN__								__UNKNOWN__	__UNKNOWN__	__UNKNOWN__																																																											false	false		false	false			false	false	false		false	false	false	false	false	false	false	false	false	false	false	false	false	false	false	false	false	false	false	false	false	false		false		false		false	false	false				false					false																																														
 ANGPTL7		__UNKNOWN__	hg19	1	11253722	11253722	+	Nonsense_Mutation	SNP	G	G	A			__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	NA	NA	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	g.chr1:11253722G>A	ENST00000376819.3	+	3	802	c.563G>A	c.(562-564)tGg>tAg	p.W188*	MTOR_ENST00000361445.4_Intron|ANGPTL7_ENST00000476934.1_Intron						__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__								__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__		TACCGGGACTGGAAGCAGTAC	0.5860349127182045	__UNKNOWN__	__UNKNOWN__								__UNKNOWN__	__UNKNOWN__	__UNKNOWN__																																																											false	false		false	false			false	false	false		false	false	false	false	false	false	false	false	false	false	false	false	false	false	false	false	false	false	false	false	false	false		false		false		false	false	false				false					false																																														
 UBIAD1		__UNKNOWN__	hg19	1	11346336	11346336	+	3'UTR	SNP	A	A	G			__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	NA	NA	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	g.chr1:11346336A>G	ENST00000376810.5	+	2					UBIAD1_ENST00000376804.2_Intron						__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__								__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__		TGTGTTCTTAAAGATAATATG	0.38902743142144636	__UNKNOWN__	__UNKNOWN__								__UNKNOWN__	__UNKNOWN__	__UNKNOWN__																																																											false	false		false	false			false	false	false		false	false	false	false	false	false	false	false	false	false	false	false	false	false	false	false	false	false	false	false	false	false		false		false		false	false	false				false					false																																														
 UBIAD1		__UNKNOWN__	hg19	1	11347092	11347092	+	3'UTR	SNP	T	T	C			__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	NA	NA	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	g.chr1:11347092T>C	ENST00000376810.5	+	2					UBIAD1_ENST00000376804.2_Intron						__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__								__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__		TCCCCACACCTACCCTCCACC	0.5261845386533666	__UNKNOWN__	__UNKNOWN__								__UNKNOWN__	__UNKNOWN__	__UNKNOWN__																																																											false	false		false	false			false	false	false		false	false	false	false	false	false	false	false	false	false	false	false	false	false	false	false	false	false	false	false	false	false		false		false		false	false	false				false					false																																														
-FBXO44		__UNKNOWN__	hg19	1	11721854	11721854	+	3'UTR	SNP	C	C	T			__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	NA	NA	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	g.chr1:11721854C>T	ENST00000251547.5	+	6					FBXO44_ENST00000251546.4_3'UTR|FBXO44_ENST00000376762.4_3'UTR|FBXO44_ENST00000376770.1_3'UTR						__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__								__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__		CTCCCAGTCTCTCGCTCTGCC	0.6084788029925187	__UNKNOWN__	__UNKNOWN__								__UNKNOWN__	__UNKNOWN__	__UNKNOWN__																																																											false	false		false	false			false	false	false		false	false	false	false	false	false	false	false	false	false	false	false	false	false	false	false	false	false	false	false	false	false		false		false		false	false	false				false					false																																														
+FBXO44		__UNKNOWN__	hg19	1	11721854	11721854	+	3'UTR	SNP	C	C	T			__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	NA	NA	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	g.chr1:11721854C>T	ENST00000251547.5	+	6					FBXO44_ENST00000251546.4_3'UTR|FBXO44_ENST00000376762.4_3'UTR|FBXO44_ENST00000376770.1_3'UTR|FBXO6_ENST00000376753.4_5'Flank						__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__								__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__		CTCCCAGTCTCTCGCTCTGCC	0.6084788029925187	__UNKNOWN__	__UNKNOWN__								__UNKNOWN__	__UNKNOWN__	__UNKNOWN__																																																											false	false		false	false			false	false	false		false	false	false	false	false	false	false	false	false	false	false	false	false	false	false	false	false	false	false	false	false	false		false		false		false	false	false				false					false																																														
 DRAXIN		__UNKNOWN__	hg19	1	11783484	11783484	+	3'UTR	SNP	T	T	G			__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	NA	NA	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	g.chr1:11783484T>G	ENST00000294485.5	+	7											__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__								__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__		CCCTTCCATCTGTAGCAGTGT	0.46633416458852867	__UNKNOWN__	__UNKNOWN__								__UNKNOWN__	__UNKNOWN__	__UNKNOWN__																																																											false	false		false	false			false	false	false		false	false	false	false	false	false	false	false	false	false	false	false	false	false	false	false	false	false	false	false	false	false		false		false		false	false	false				false					false																																														
 AGTRAP		__UNKNOWN__	hg19	1	11810151	11810151	+	Nonsense_Mutation	SNP	C	C	T			__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	NA	NA	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	g.chr1:11810151C>T	ENST00000314340.5	+	5	436	c.382C>T	c.(382-384)Cag>Tag	p.Q128*	AGTRAP_ENST00000376629.4_Nonsense_Mutation_p.Q121*|AGTRAP_ENST00000376637.3_Missense_Mutation_p.S109L|AGTRAP_ENST00000452018.2_Missense_Mutation_p.S153L|AGTRAP_ENST00000510878.1_Silent_p.L92L|AGTRAP_ENST00000376627.2_3'UTR|AGTRAP_ENST00000400895.2_3'UTR|AGTRAP_ENST00000491346.1_Intron						__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__								__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__		TGGGTCTTCTCAGGACCGTAG	0.5885286783042394	__UNKNOWN__	__UNKNOWN__								__UNKNOWN__	__UNKNOWN__	__UNKNOWN__																																																											false	false		false	false			false	false	false		false	false	false	false	false	false	false	false	false	false	false	false	false	false	false	false	false	false	false	false	false	false		false		false		false	false	false				false					false																																														
 AGTRAP		__UNKNOWN__	hg19	1	11810505	11810505	+	3'UTR	SNP	C	C	T			__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	NA	NA	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	g.chr1:11810505C>T	ENST00000314340.5	+	5					AGTRAP_ENST00000376629.4_3'UTR|AGTRAP_ENST00000376637.3_3'UTR|AGTRAP_ENST00000376627.2_3'UTR|AGTRAP_ENST00000510878.1_3'UTR|AGTRAP_ENST00000491346.1_Intron						__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__								__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__		CTCTCTTTACCTCCTACCCCA	0.6184538653366584	__UNKNOWN__	__UNKNOWN__								__UNKNOWN__	__UNKNOWN__	__UNKNOWN__																																																											false	false		false	false			false	false	false		false	false	false	false	false	false	false	false	false	false	false	false	false	false	false	false	false	false	false	false	false	false		false		false		false	false	false				false					false																																														
@@ -961,8 +961,8 @@ TMEM51-AS1		__UNKNOWN__	hg19	1	15471992	15471992	+	RNA	SNP	T	T	G			__UNKNOWN__	_
 TMEM51		__UNKNOWN__	hg19	1	15477865	15477865	+	5'Flank	SNP	G	G	A			__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	NA	NA	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	g.chr1:15477865G>A	ENST00000376008.2	+						TMEM51_ENST00000376014.3_5'Flank|TMEM51_ENST00000400796.3_5'Flank|TMEM51_ENST00000428417.1_5'Flank|TMEM51_ENST00000434578.2_5'Flank|TMEM51-AS1_ENST00000310916.3_RNA						__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__								__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__		ATAAGGAGAGGCATGCTTCCT	0.4713216957605985	__UNKNOWN__	__UNKNOWN__								__UNKNOWN__	__UNKNOWN__	__UNKNOWN__																																																											false	false		false	false			false	false	false		false	false	false	false	false	false	false	false	false	false	false	false	false	false	false	false	false	false	false	false	false	false		false		false		false	false	false				false					false																																														
 TMEM51		__UNKNOWN__	hg19	1	15546761	15546761	+	3'UTR	SNP	G	G	A			__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	NA	NA	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	g.chr1:15546761G>A	ENST00000428417.1	+	3					TMEM51_ENST00000376008.2_3'UTR|TMEM51_ENST00000376014.3_3'UTR|TMEM51_ENST00000400796.3_3'UTR|TMEM51_ENST00000434578.2_3'UTR						__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__								__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__		GGCGGCTCTCGCAGAGCCCCT	0.4139650872817955	__UNKNOWN__	__UNKNOWN__								__UNKNOWN__	__UNKNOWN__	__UNKNOWN__																																																											false	false		false	false			false	false	false		false	false	false	false	false	false	false	false	false	false	false	false	false	false	false	false	false	false	false	false	false	false		false		false		false	false	false				false					false																																														
 FHAD1		__UNKNOWN__	hg19	1	15701094	15701094	+	Nonsense_Mutation	SNP	C	C	T	367730091	byFrequency;by1000genomes	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	NA	NA	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	g.chr1:15701094C>T	ENST00000375998.4	+	25	3478	c.3478C>T	c.(3478-3480)Cga>Tga	p.R1160*	FHAD1_ENST00000358897.4_Nonsense_Mutation_p.R1160*|FHAD1_ENST00000417793.1_Nonsense_Mutation_p.R1124*|FHAD1_ENST00000375999.3_Nonsense_Mutation_p.R1160*|FHAD1_ENST00000314740.8_Nonsense_Mutation_p.R413*|FHAD1_ENST00000471347.1_Intron						__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__								__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__		ACTTCGAGCGCGAATTAAAGA	0.4937655860349127	__UNKNOWN__	__UNKNOWN__								__UNKNOWN__	__UNKNOWN__	__UNKNOWN__																																																											true	false	0.9998,0.0001997	false	false	0		false	false	false	FHAD1:114827	false	true	false	false	true	false	false	false	false	false	false	false	true	false	false	false	false	false	false	true	false	false	0	false	0	false	0.999141,0.000858575	false	false	false	SNV	0x050000000605040426000100	1	false	138	rs367730091		15701094	true																																														
-RP3-467K16.4		__UNKNOWN__	hg19	1	15732793	15732793	+	RNA	SNP	A	A	G			__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	NA	NA	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	g.chr1:15732793A>G	ENST00000427824.1	-			c.e3-1610T>C									__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__								__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__		TAAAGGATCAATCGTCTTGGT	0.486284289276808	__UNKNOWN__	__UNKNOWN__								__UNKNOWN__	__UNKNOWN__	__UNKNOWN__																																																											false	false		false	false			false	false	false		false	false	false	false	false	false	false	false	false	false	false	false	false	false	false	false	false	false	false	false	false	false		false		false		false	false	false				false					false																																														
-RP3-467K16.4		__UNKNOWN__	hg19	1	15733394	15733394	+	RNA	SNP	G	G	A			__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	NA	NA	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	g.chr1:15733394G>A	ENST00000427824.1	-			c.e3-1009C>T									__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__								__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__		CAATTGCCCCGGATGAATATT	0.5187032418952618	__UNKNOWN__	__UNKNOWN__								__UNKNOWN__	__UNKNOWN__	__UNKNOWN__																																																											false	false		false	false			false	false	false		false	false	false	false	false	false	false	false	false	false	false	false	false	false	false	false	false	false	false	false	false	false		false		false		false	false	false				false					false																																														
+EFHD2		__UNKNOWN__	hg19	1	15732793	15732793	+	5'Flank	SNP	A	A	G			__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	NA	NA	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	g.chr1:15732793A>G	ENST00000375980.4	+						RP3-467K16.4_ENST00000427824.1_RNA						__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__								__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__		TAAAGGATCAATCGTCTTGGT	0.486284289276808	__UNKNOWN__	__UNKNOWN__								__UNKNOWN__	__UNKNOWN__	__UNKNOWN__																																																											false	false		false	false			false	false	false		false	false	false	false	false	false	false	false	false	false	false	false	false	false	false	false	false	false	false	false	false	false		false		false		false	false	false				false					false																																														
+EFHD2		__UNKNOWN__	hg19	1	15733394	15733394	+	5'Flank	SNP	G	G	A			__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	NA	NA	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	g.chr1:15733394G>A	ENST00000375980.4	+						RP3-467K16.4_ENST00000427824.1_RNA						__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__								__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__		CAATTGCCCCGGATGAATATT	0.5187032418952618	__UNKNOWN__	__UNKNOWN__								__UNKNOWN__	__UNKNOWN__	__UNKNOWN__																																																											false	false		false	false			false	false	false		false	false	false	false	false	false	false	false	false	false	false	false	false	false	false	false	false	false	false	false	false	false		false		false		false	false	false				false					false																																														
 CTRC		__UNKNOWN__	hg19	1	15767020	15767020	+	Nonsense_Mutation	SNP	G	G	A			__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	NA	NA	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	g.chr1:15767020G>A	ENST00000375949.4	+	3	190	c.164G>A	c.(163-165)tGg>tAg	p.W55*	CTRC_ENST00000375943.2_Intron|CTRC_ENST00000483406.1_Intron						__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__								__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__		AACGACACGTGGAGGCATACG	0.6109725685785536	__UNKNOWN__	__UNKNOWN__								__UNKNOWN__	__UNKNOWN__	__UNKNOWN__																																																											false	false		false	false			false	false	false		false	false	false	false	false	false	false	false	false	false	false	false	false	false	false	false	false	false	false	false	false	false		false		false		false	false	false				false					false																																														
 CELA2B		__UNKNOWN__	hg19	1	15813922	15813922	+	Nonsense_Mutation	SNP	G	G	A			__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	NA	NA	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	g.chr1:15813922G>A	ENST00000375910.3	+	7	807	c.782G>A	c.(781-783)tGg>tAg	p.W261*							__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__								__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__		TACAACGACTGGATCAATTCG	0.5935162094763092	__UNKNOWN__	__UNKNOWN__								__UNKNOWN__	__UNKNOWN__	__UNKNOWN__																																																											false	false		false	false			false	false	false		false	false	false	false	false	false	false	false	false	false	false	false	false	false	false	false	false	false	false	false	false	false		false		false		false	false	false				false					false																																														
 CASP9		__UNKNOWN__	hg19	1	15844653	15844653	+	Nonsense_Mutation	SNP	C	C	A	201216482	byFrequency	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	NA	NA	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	g.chr1:15844653C>A	ENST00000333868.5	-	2	465	c.370G>T	c.(370-372)Gaa>Taa	p.E124*	CASP9_ENST00000546424.1_Nonsense_Mutation_p.E124*|CASP9_ENST00000348549.5_Nonsense_Mutation_p.E124*|CASP9_ENST00000375890.4_Nonsense_Mutation_p.E41*|CASP9_ENST00000469637.1_Intron						__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__								__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__		CTGGGTGTTTCCGGTCTGAGA	0.486284289276808	__UNKNOWN__	__UNKNOWN__								__UNKNOWN__	__UNKNOWN__	__UNKNOWN__																																																											true	false		false	false			false	false	false	CASP9:842	false	true	true	false	false	false	false	false	false	false	false	false	true	false	false	false	false	false	false	true	false	false	0	false	0	false		false	false	true	SNV	0x050000480605040402000100	1	false	137	rs201216482		15844653	true																																														
@@ -986,13 +986,13 @@ RP11-169K16.9		__UNKNOWN__	hg19	1	16161836	16161836	+	RNA	SNP	T	T	C			__UNKNOWN_
 SPEN		__UNKNOWN__	hg19	1	16255007	16255007	+	Nonsense_Mutation	SNP	C	C	T	72649638	by1000genomes	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	NA	NA	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	g.chr1:16255007C>T	ENST00000375759.3	+	11	2476	c.2272C>T	c.(2272-2274)Cga>Tga	p.R758*							__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__								__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__		GCTTTACAGCCGATCCTCAGA	0.47880299251870323	__UNKNOWN__	__UNKNOWN__								__UNKNOWN__	__UNKNOWN__	__UNKNOWN__																																																											true	false		false	false			false	false	false	SPEN:23013	false	true	false	true	false	false	false	false	false	false	false	false	true	false	false	false	false	false	false	true	false	false	0	false	0	false		false	false	false	SNV	0x05000000060500041e000100	1	false	130	rs72649638		16255007	false																																														
 HSPB7		__UNKNOWN__	hg19	1	16341354	16341354	+	3'UTR	SNP	T	T	G			__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	NA	NA	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	g.chr1:16341354T>G	ENST00000375718.4	-	4					HSPB7_ENST00000311890.9_3'UTR|HSPB7_ENST00000411503.1_3'UTR|CLCNKA_ENST00000464764.1_5'Flank						__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__								__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__		CCAACCCCACTTGGCCTTGCC	0.6109725685785536	__UNKNOWN__	__UNKNOWN__								__UNKNOWN__	__UNKNOWN__	__UNKNOWN__																																																											false	false		false	false			false	false	false		false	false	false	false	false	false	false	false	false	false	false	false	false	false	false	false	false	false	false	false	false	false		false		false		false	false	false				false					false																																														
 CLCNKA		__UNKNOWN__	hg19	1	16348412	16348412	+	5'UTR	SNP	T	T	C			__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	NA	NA	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	g.chr1:16348412T>C	ENST00000375692.1	+	1					HSPB7_ENST00000311890.9_5'Flank|CLCNKA_ENST00000331433.4_5'Flank|HSPB7_ENST00000375718.4_5'Flank|HSPB7_ENST00000406363.2_5'Flank|HSPB7_ENST00000411503.1_5'Flank|CLCNKA_ENST00000420078.1_5'Flank|CLCNKA_ENST00000439316.2_5'Flank|HSPB7_ENST00000487046.1_5'Flank|HSPB7_ENST00000545268.1_5'Flank|CLCNKA_ENST00000464764.1_Intron						__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__								__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__		TTAATCTCCATGGTAAACCCC	0.6134663341645885	__UNKNOWN__	__UNKNOWN__								__UNKNOWN__	__UNKNOWN__	__UNKNOWN__																																																											false	false		false	false			false	false	false		false	false	false	false	false	false	false	false	false	false	false	false	false	false	false	false	false	false	false	false	false	false		false		false		false	false	false				false					false																																														
-RP11-276H7.3		__UNKNOWN__	hg19	1	16486793	16486793	+	RNA	SNP	A	A	G			__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	NA	NA	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	g.chr1:16486793A>G	ENST00000426353.1	+			c.e1+872A>G									__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__								__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__		CCTGCTCTCAACCAACTGAAC	0.49875311720698257	__UNKNOWN__	__UNKNOWN__								__UNKNOWN__	__UNKNOWN__	__UNKNOWN__																																																											false	false		false	false			false	false	false		false	false	false	false	false	false	false	false	false	false	false	false	false	false	false	false	false	false	false	false	false	false		false		false		false	false	false				false					false																																														
+EPHA2		__UNKNOWN__	hg19	1	16486793	16486793	+	5'Flank	SNP	A	A	G			__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	NA	NA	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	g.chr1:16486793A>G	ENST00000358432.5	-						EPHA2_ENST00000461614.1_5'Flank|RP11-276H7.3_ENST00000426353.1_RNA						__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__								__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__		CCTGCTCTCAACCAACTGAAC	0.49875311720698257	__UNKNOWN__	__UNKNOWN__								__UNKNOWN__	__UNKNOWN__	__UNKNOWN__																																																											false	false		false	false			false	false	false		false	false	false	false	false	false	false	false	false	false	false	false	false	false	false	false	false	false	false	false	false	false		false		false		false	false	false				false					false																																														
 ARHGEF19		__UNKNOWN__	hg19	1	16524869	16524869	+	3'UTR	SNP	T	T	C			__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	NA	NA	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	g.chr1:16524869T>C	ENST00000270747.3	-	16					ARHGEF19_ENST00000478117.1_Intron						__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__								__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__		GAAGAAACTATCCTTGGCCTT	0.5635910224438903	__UNKNOWN__	__UNKNOWN__								__UNKNOWN__	__UNKNOWN__	__UNKNOWN__																																																											false	false		false	false			false	false	false		false	false	false	false	false	false	false	false	false	false	false	false	false	false	false	false	false	false	false	false	false	false		false		false		false	false	false				false					false																																														
 FBXO42		__UNKNOWN__	hg19	1	16574316	16574316	+	3'UTR	SNP	T	T	C			__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	NA	NA	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	g.chr1:16574316T>C	ENST00000375592.3	-	10											__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__								__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__		CGCTCTGCTGTATAACCTGTG	0.4139650872817955	__UNKNOWN__	__UNKNOWN__								__UNKNOWN__	__UNKNOWN__	__UNKNOWN__																																																											false	false		false	false			false	false	false		false	false	false	false	false	false	false	false	false	false	false	false	false	false	false	false	false	false	false	false	false	false		false		false		false	false	false				false					false																																														
-NECAP2		__UNKNOWN__	hg19	1	16785394	16785394	+	3'UTR	SNP	C	C	T			__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	NA	NA	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	g.chr1:16785394C>T	ENST00000504551.2	+	6					NECAP2_ENST00000337132.5_3'UTR|NECAP2_ENST00000406746.1_3'UTR|NECAP2_ENST00000443980.2_Missense_Mutation_p.T242M|NECAP2_ENST00000457722.2_3'UTR						__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__								__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__		GACCTGAGCACGGTTTTTCCT	0.5087281795511222	__UNKNOWN__	__UNKNOWN__								__UNKNOWN__	__UNKNOWN__	__UNKNOWN__																																																											false	false		false	false			false	false	false		false	false	false	false	false	false	false	false	false	false	false	false	false	false	false	false	false	false	false	false	false	false		false		false		false	false	false				false					false																																														
+NECAP2		__UNKNOWN__	hg19	1	16785394	16785394	+	3'UTR	SNP	C	C	T			__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	NA	NA	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	g.chr1:16785394C>T	ENST00000504551.2	+	6					NECAP2_ENST00000337132.5_3'UTR|NECAP2_ENST00000406746.1_3'UTR|NECAP2_ENST00000443980.2_Missense_Mutation_p.T242M|NECAP2_ENST00000457722.2_3'UTR|RP4-798A10.2_ENST00000457898.1_5'Flank						__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__								__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__		GACCTGAGCACGGTTTTTCCT	0.5087281795511222	__UNKNOWN__	__UNKNOWN__								__UNKNOWN__	__UNKNOWN__	__UNKNOWN__																																																											false	false		false	false			false	false	false		false	false	false	false	false	false	false	false	false	false	false	false	false	false	false	false	false	false	false	false	false	false		false		false		false	false	false				false					false																																														
 CROCCP3		__UNKNOWN__	hg19	1	16809796	16809796	+	RNA	SNP	T	T	G			__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	NA	NA	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	g.chr1:16809796T>G	ENST00000263511.4	-			c.e10+14A>C									__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__								__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__		TCAGGAGCTCTTTGGCGCTCC	0.5860349127182045	__UNKNOWN__	__UNKNOWN__								__UNKNOWN__	__UNKNOWN__	__UNKNOWN__																																																											false	false		false	false			false	false	false		false	false	false	false	false	false	false	false	false	false	false	false	false	false	false	false	false	false	false	false	false	false		false		false		false	false	false				false					false																																														
 RP4-798A10.4		__UNKNOWN__	hg19	1	16847832	16847832	+	RNA	SNP	T	T	C			__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	NA	NA	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	g.chr1:16847832T>C	ENST00000452795.2	+			c.e2-227T>C									__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__								__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__		ACTGGCAGGGTCTCTGGCGCA	0.5685785536159601	__UNKNOWN__	__UNKNOWN__								__UNKNOWN__	__UNKNOWN__	__UNKNOWN__																																																											false	false		false	false			false	false	false		false	false	false	false	false	false	false	false	false	false	false	false	false	false	false	false	false	false	false	false	false	false		false		false		false	false	false				false					false																																														
-RP1-37C10.3		__UNKNOWN__	hg19	1	17311190	17311190	+	RNA	SNP	A	A	G			__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	NA	NA	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	g.chr1:17311190A>G	ENST00000446261.1	+			c.e1+5583A>G									__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__								__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__		ACCACCCTGAACCGTCGCTGG	0.5361596009975063	__UNKNOWN__	__UNKNOWN__								__UNKNOWN__	__UNKNOWN__	__UNKNOWN__																																																											false	false		false	false			false	false	false		false	false	false	false	false	false	false	false	false	false	false	false	false	false	false	false	false	false	false	false	false	false		false		false		false	false	false				false					false																																														
+MFAP2		__UNKNOWN__	hg19	1	17311190	17311190	+	5'Flank	SNP	A	A	G			__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	NA	NA	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	g.chr1:17311190A>G	ENST00000375535.3	-						MFAP2_ENST00000438542.1_5'Flank|MFAP2_ENST00000490075.1_5'Flank|RP1-37C10.3_ENST00000446261.1_RNA						__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__								__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__		ACCACCCTGAACCGTCGCTGG	0.5361596009975063	__UNKNOWN__	__UNKNOWN__								__UNKNOWN__	__UNKNOWN__	__UNKNOWN__																																																											false	false		false	false			false	false	false		false	false	false	false	false	false	false	false	false	false	false	false	false	false	false	false	false	false	false	false	false	false		false		false		false	false	false				false					false																																														
 ATP13A2		__UNKNOWN__	hg19	1	17312485	17312485	+	3'UTR	SNP	C	C	T			__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	NA	NA	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	g.chr1:17312485C>T	ENST00000326735.8	-	29					ATP13A2_ENST00000452699.1_3'UTR|ATP13A2_ENST00000341676.5_Missense_Mutation_p.V1158M|RP1-37C10.3_ENST00000446261.1_RNA						__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__								__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__		ATTTGCTACACTGACAGCAGC	0.6159600997506235	__UNKNOWN__	__UNKNOWN__								__UNKNOWN__	__UNKNOWN__	__UNKNOWN__																																																											false	false		false	false			false	false	false		false	false	false	false	false	false	false	false	false	false	false	false	false	false	false	false	false	false	false	false	false	false		false		false		false	false	false				false					false																																														
 ATP13A2		__UNKNOWN__	hg19	1	17312586	17312586	+	3'UTR	SNP	G	G	A			__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	NA	NA	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	g.chr1:17312586G>A	ENST00000326735.8	-	29					ATP13A2_ENST00000452699.1_3'UTR|ATP13A2_ENST00000341676.5_Missense_Mutation_p.P1124L|RP1-37C10.3_ENST00000446261.1_RNA						__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__								__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__		GGGTGGTCTCGGGGGAGGAGT	0.6309226932668329	__UNKNOWN__	__UNKNOWN__								__UNKNOWN__	__UNKNOWN__	__UNKNOWN__																																																											false	false		false	false			false	false	false		false	false	false	false	false	false	false	false	false	false	false	false	false	false	false	false	false	false	false	false	false	false		false		false		false	false	false				false					false																																														
 ATP13A2		__UNKNOWN__	hg19	1	17312596	17312596	+	3'UTR	SNP	T	T	A			__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	NA	NA	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	g.chr1:17312596T>A	ENST00000326735.8	-	29					ATP13A2_ENST00000452699.1_3'UTR|ATP13A2_ENST00000341676.5_Missense_Mutation_p.T1121S|RP1-37C10.3_ENST00000446261.1_RNA						__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__								__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__		GGGGGAGGAGTGTAGACAGTC	0.6334164588528678	__UNKNOWN__	__UNKNOWN__								__UNKNOWN__	__UNKNOWN__	__UNKNOWN__																																																											false	false		false	false			false	false	false		false	false	false	false	false	false	false	false	false	false	false	false	false	false	false	false	false	false	false	false	false	false		false		false		false	false	false				false					false																																														
@@ -1045,14 +1045,14 @@ ALDH4A1		__UNKNOWN__	hg19	1	19198972	19198972	+	3'UTR	SNP	G	G	A			__UNKNOWN__	__
 ALDH4A1		__UNKNOWN__	hg19	1	19199067	19199067	+	3'UTR	SNP	G	G	A			__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	NA	NA	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	g.chr1:19199067G>A	ENST00000375341.3	-	15					ALDH4A1_ENST00000290597.5_Intron|ALDH4A1_ENST00000538309.1_3'UTR|ALDH4A1_ENST00000538839.1_3'UTR|RP13-279N23.2_ENST00000494072.3_Intron						__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__								__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__		GCCCAGTGGAGGGCAGAGGGA	0.5960099750623441	__UNKNOWN__	__UNKNOWN__								__UNKNOWN__	__UNKNOWN__	__UNKNOWN__																																																											false	false		false	false			false	false	false		false	false	false	false	false	false	false	false	false	false	false	false	false	false	false	false	false	false	false	false	false	false		false		false		false	false	false				false					false																																														
 ALDH4A1		__UNKNOWN__	hg19	1	19199217	19199217	+	3'UTR	SNP	A	A	G			__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	NA	NA	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	g.chr1:19199217A>G	ENST00000375341.3	-	15					ALDH4A1_ENST00000290597.5_Intron|ALDH4A1_ENST00000538309.1_3'UTR|ALDH4A1_ENST00000538839.1_3'UTR|RP13-279N23.2_ENST00000494072.3_Intron						__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__								__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__		AAGGGAGTCAAGCCCGGATTA	0.6159600997506235	__UNKNOWN__	__UNKNOWN__								__UNKNOWN__	__UNKNOWN__	__UNKNOWN__																																																											false	false		false	false			false	false	false		false	false	false	false	false	false	false	false	false	false	false	false	false	false	false	false	false	false	false	false	false	false		false		false		false	false	false				false					false																																														
 ALDH4A1		__UNKNOWN__	hg19	1	19229092	19229092	+	5'UTR	SNP	G	G	A			__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	NA	NA	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	g.chr1:19229092G>A	ENST00000375341.3	-	1					ALDH4A1_ENST00000290597.5_5'Flank|ALDH4A1_ENST00000538839.1_5'Flank|RP13-279N23.2_ENST00000494072.3_Intron						__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__								__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__		CGTCCAGAGCGCACCACCTCG	0.6408977556109726	__UNKNOWN__	__UNKNOWN__								__UNKNOWN__	__UNKNOWN__	__UNKNOWN__																																																											false	false		false	false			false	false	false		false	false	false	false	false	false	false	false	false	false	false	false	false	false	false	false	false	false	false	false	false	false		false		false		false	false	false				false					false																																														
-MRTO4		__UNKNOWN__	hg19	1	19578192	19578192	+	5'UTR	SNP	G	G	A			__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	NA	NA	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	g.chr1:19578192G>A	ENST00000330263.4	+	1					MRTO4_ENST00000493700.1_5'Flank						__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__								__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__		GCGGCGGCTTGGCAGGGAGAG	0.71571072319202	__UNKNOWN__	__UNKNOWN__								__UNKNOWN__	__UNKNOWN__	__UNKNOWN__																																																											false	false		false	false			false	false	false		false	false	false	false	false	false	false	false	false	false	false	false	false	false	false	false	false	false	false	false	false	false		false		false		false	false	false				false					false																																														
+MRTO4		__UNKNOWN__	hg19	1	19578192	19578192	+	5'UTR	SNP	G	G	A			__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	NA	NA	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	g.chr1:19578192G>A	ENST00000330263.4	+	1					EMC1_ENST00000356068.2_5'Flank|EMC1_ENST00000375199.3_5'Flank|EMC1_ENST00000375208.3_5'Flank|EMC1_ENST00000477853.1_5'Flank|MRTO4_ENST00000493700.1_5'Flank						__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__								__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__		GCGGCGGCTTGGCAGGGAGAG	0.71571072319202	__UNKNOWN__	__UNKNOWN__								__UNKNOWN__	__UNKNOWN__	__UNKNOWN__																																																											false	false		false	false			false	false	false		false	false	false	false	false	false	false	false	false	false	false	false	false	false	false	false	false	false	false	false	false	false		false		false		false	false	false				false					false																																														
 AKR7L		__UNKNOWN__	hg19	1	19593199	19593199	+	3'UTR	SNP	T	T	C			__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	NA	NA	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	g.chr1:19593199T>C	ENST00000420396.2	-	5											__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__								__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__		TTTTTACTTATTGGCTATTAT	0.3765586034912718	__UNKNOWN__	__UNKNOWN__								__UNKNOWN__	__UNKNOWN__	__UNKNOWN__																																																											false	false		false	false			false	false	false		false	false	false	false	false	false	false	false	false	false	false	false	false	false	false	false	false	false	false	false	false	false		false		false		false	false	false				false					false																																														
 MINOS1		__UNKNOWN__	hg19	1	19922387	19922387	+	5'Flank	SNP	C	C	T			__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	NA	NA	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	g.chr1:19922387C>T	ENST00000322753.6	+						MINOS1_ENST00000486890.1_5'Flank|MINOS1-NBL1_ENST00000602662.1_5'Flank|RP5-1056L3.1_ENST00000416470.1_RNA						__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__								__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__		TTGCATACAACCTACACACAT	0.39900249376558605	__UNKNOWN__	__UNKNOWN__								__UNKNOWN__	__UNKNOWN__	__UNKNOWN__																																																											false	false		false	false			false	false	false		false	false	false	false	false	false	false	false	false	false	false	false	false	false	false	false	false	false	false	false	false	false		false		false		false	false	false				false					false																																														
 MINOS1		__UNKNOWN__	hg19	1	19954014	19954014	+	3'UTR	SNP	G	G	T			__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	NA	NA	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	g.chr1:19954014G>T	ENST00000322753.6	+	4					MINOS1-NBL1_ENST00000602662.1_Intron						__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__								__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__		GGAGAAGAGAGGTGTAGGCAA	0.4763092269326683	__UNKNOWN__	__UNKNOWN__								__UNKNOWN__	__UNKNOWN__	__UNKNOWN__																																																											false	false		false	false			false	false	false		false	false	false	false	false	false	false	false	false	false	false	false	false	false	false	false	false	false	false	false	false	false		false		false		false	false	false				false					false																																														
 TMCO4		__UNKNOWN__	hg19	1	20008880	20008880	+	3'UTR	SNP	G	G	T			__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	NA	NA	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	g.chr1:20008880G>T	ENST00000294543.6	-	16					TMCO4_ENST00000375127.1_3'UTR|TMCO4_ENST00000375122.2_3'UTR|TMCO4_ENST00000489814.1_Intron						__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__								__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__		CTCTGTTAGTGGTGTCCAGAT	0.486284289276808	__UNKNOWN__	__UNKNOWN__								__UNKNOWN__	__UNKNOWN__	__UNKNOWN__																																																											false	false		false	false			false	false	false		false	false	false	false	false	false	false	false	false	false	false	false	false	false	false	false	false	false	false	false	false	false		false		false		false	false	false				false					false																																														
-RP11-91K11.2		__UNKNOWN__	hg19	1	20142681	20142681	+	RNA	SNP	A	A	G			__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	NA	NA	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	g.chr1:20142681A>G	ENST00000454736.1	+			c.e1+1635A>G									__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__								__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__		CCTTCCATGGAGCAGGACCTT	0.5461346633416458	__UNKNOWN__	__UNKNOWN__								__UNKNOWN__	__UNKNOWN__	__UNKNOWN__																																																											false	false		false	false			false	false	false		false	false	false	false	false	false	false	false	false	false	false	false	false	false	false	false	false	false	false	false	false	false		false		false		false	false	false				false					false																																														
-RP11-91K11.2		__UNKNOWN__	hg19	1	20142866	20142866	+	RNA	SNP	C	C	T			__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	NA	NA	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	g.chr1:20142866C>T	ENST00000454736.1	+			c.e1+1820C>T									__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__								__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__		GGGCAAATGGCGGGGTGGCAT	0.5311720698254364	__UNKNOWN__	__UNKNOWN__								__UNKNOWN__	__UNKNOWN__	__UNKNOWN__																																																											false	false		false	false			false	false	false		false	false	false	false	false	false	false	false	false	false	false	false	false	false	false	false	false	false	false	false	false	false		false		false		false	false	false				false					false																																														
-RP11-91K11.2		__UNKNOWN__	hg19	1	20144332	20144332	+	RNA	SNP	G	G	A			__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	NA	NA	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	g.chr1:20144332G>A	ENST00000454736.1	+			c.e2-1404G>A									__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__								__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__		AAAGGGTCAGGCATTGATGAG	0.38403990024937656	__UNKNOWN__	__UNKNOWN__								__UNKNOWN__	__UNKNOWN__	__UNKNOWN__																																																											false	false		false	false			false	false	false		false	false	false	false	false	false	false	false	false	false	false	false	false	false	false	false	false	false	false	false	false	false		false		false		false	false	false				false					false																																														
+RNF186		__UNKNOWN__	hg19	1	20142681	20142681	+	5'Flank	SNP	A	A	G			__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	NA	NA	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	g.chr1:20142681A>G	ENST00000375121.2	-						RP11-91K11.2_ENST00000454736.1_RNA						__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__								__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__		CCTTCCATGGAGCAGGACCTT	0.5461346633416458	__UNKNOWN__	__UNKNOWN__								__UNKNOWN__	__UNKNOWN__	__UNKNOWN__																																																											false	false		false	false			false	false	false		false	false	false	false	false	false	false	false	false	false	false	false	false	false	false	false	false	false	false	false	false	false		false		false		false	false	false				false					false																																														
+RNF186		__UNKNOWN__	hg19	1	20142866	20142866	+	5'Flank	SNP	C	C	T			__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	NA	NA	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	g.chr1:20142866C>T	ENST00000375121.2	-						RP11-91K11.2_ENST00000454736.1_RNA						__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__								__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__		GGGCAAATGGCGGGGTGGCAT	0.5311720698254364	__UNKNOWN__	__UNKNOWN__								__UNKNOWN__	__UNKNOWN__	__UNKNOWN__																																																											false	false		false	false			false	false	false		false	false	false	false	false	false	false	false	false	false	false	false	false	false	false	false	false	false	false	false	false	false		false		false		false	false	false				false					false																																														
+RNF186		__UNKNOWN__	hg19	1	20144332	20144332	+	5'Flank	SNP	G	G	A			__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	NA	NA	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	g.chr1:20144332G>A	ENST00000375121.2	-						RP11-91K11.2_ENST00000454736.1_RNA						__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__								__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__		AAAGGGTCAGGCATTGATGAG	0.38403990024937656	__UNKNOWN__	__UNKNOWN__								__UNKNOWN__	__UNKNOWN__	__UNKNOWN__																																																											false	false		false	false			false	false	false		false	false	false	false	false	false	false	false	false	false	false	false	false	false	false	false	false	false	false	false	false	false		false		false		false	false	false				false					false																																														
 OTUD3		__UNKNOWN__	hg19	1	20238343	20238343	+	3'UTR	SNP	A	A	G			__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	NA	NA	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	g.chr1:20238343A>G	ENST00000375120.3	+	8											__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__								__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__		AGCTTACCGCACACCGCTGAT	0.46633416458852867	__UNKNOWN__	__UNKNOWN__								__UNKNOWN__	__UNKNOWN__	__UNKNOWN__																																																											false	false		false	false			false	false	false		false	false	false	false	false	false	false	false	false	false	false	false	false	false	false	false	false	false	false	false	false	false		false		false		false	false	false				false					false																																														
 PLA2G2A		__UNKNOWN__	hg19	1	20301964	20301964	+	3'UTR	SNP	G	G	A			__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	NA	NA	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	g.chr1:20301964G>A	ENST00000375111.3	-	6					PLA2G2A_ENST00000400520.3_3'UTR|PLA2G2A_ENST00000496748.1_Intron						__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__								__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__		GAGACCCCCCGGAGTACAGCT	0.5062344139650873	__UNKNOWN__	__UNKNOWN__								__UNKNOWN__	__UNKNOWN__	__UNKNOWN__																																																											false	false		false	false			false	false	false		false	false	false	false	false	false	false	false	false	false	false	false	false	false	false	false	false	false	false	false	false	false		false		false		false	false	false				false					false																																														
 PLA2G2D		__UNKNOWN__	hg19	1	20442071	20442072	+	Frame_Shift_Del	DEL	A	A	-			__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	NA	NA	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	g.chr1:20442071delA	ENST00000375105.3	-	3	281	c.221delT	c.(220-222)ctgfs	p.L74fs							__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__								__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__		CTGGGTCTTCAGGTGGTCATA	0.5635910224438903	__UNKNOWN__	__UNKNOWN__								__UNKNOWN__	__UNKNOWN__	__UNKNOWN__																																																											false	false		false	false			false	false	false		false	false	false	false	false	false	false	false	false	false	false	false	false	false	false	false	false	false	false	false	false	false		false		false		false	false	false				false					false																																														
@@ -1068,7 +1068,7 @@ RP4-749H3.1		__UNKNOWN__	hg19	1	20733376	20733376	+	RNA	SNP	T	T	C			__UNKNOWN__
 RP4-749H3.1		__UNKNOWN__	hg19	1	20735361	20735361	+	RNA	SNP	G	G	A			__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	NA	NA	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	g.chr1:20735361G>A	ENST00000426428.1	-			c.e2+2599C>T									__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__								__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__		GAAAACTCTCGGCAAACTCTC	0.4513715710723192	__UNKNOWN__	__UNKNOWN__								__UNKNOWN__	__UNKNOWN__	__UNKNOWN__																																																											false	false		false	false			false	false	false		false	false	false	false	false	false	false	false	false	false	false	false	false	false	false	false	false	false	false	false	false	false		false		false		false	false	false				false					false																																														
 RP4-749H3.1		__UNKNOWN__	hg19	1	20735452	20735452	+	RNA	SNP	G	G	A			__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	NA	NA	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	g.chr1:20735452G>A	ENST00000426428.1	-			c.e2+2690C>T									__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__								__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__		ACCAGGAAGGGCAAAGGTTAA	0.43640897755610975	__UNKNOWN__	__UNKNOWN__								__UNKNOWN__	__UNKNOWN__	__UNKNOWN__																																																											false	false		false	false			false	false	false		false	false	false	false	false	false	false	false	false	false	false	false	false	false	false	false	false	false	false	false	false	false		false		false		false	false	false				false					false																																														
 RP4-749H3.1		__UNKNOWN__	hg19	1	20736532	20736532	+	RNA	SNP	C	C	T			__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	NA	NA	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	g.chr1:20736532C>T	ENST00000426428.1	-			c.e2+3770G>A									__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__								__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__		AACCAACCATCGGAGGGACAC	0.4912718204488778	__UNKNOWN__	__UNKNOWN__								__UNKNOWN__	__UNKNOWN__	__UNKNOWN__																																																											false	false		false	false			false	false	false		false	false	false	false	false	false	false	false	false	false	false	false	false	false	false	false	false	false	false	false	false	false		false		false		false	false	false				false					false																																														
-RP4-749H3.1		__UNKNOWN__	hg19	1	20740016	20740016	+	RNA	SNP	C	C	A			__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	NA	NA	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	g.chr1:20740016C>A	ENST00000426428.1	-			c.e2+7254G>T									__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__								__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__		CAGACGGCATCACAGAGGGAA	0.5486284289276808	__UNKNOWN__	__UNKNOWN__								__UNKNOWN__	__UNKNOWN__	__UNKNOWN__																																																											false	false		false	false			false	false	false		false	false	false	false	false	false	false	false	false	false	false	false	false	false	false	false	false	false	false	false	false	false		false		false		false	false	false				false					false																																														
+RP4-749H3.1		__UNKNOWN__	hg19	1	20740016	20740016	+	RNA	SNP	C	C	A			__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	NA	NA	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	g.chr1:20740016C>A	ENST00000426428.1	-			c.e2+7254G>T			RP4-749H3.2_ENST00000421114.1_5'Flank						__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__								__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__		CAGACGGCATCACAGAGGGAA	0.5486284289276808	__UNKNOWN__	__UNKNOWN__								__UNKNOWN__	__UNKNOWN__	__UNKNOWN__																																																											false	false		false	false			false	false	false		false	false	false	false	false	false	false	false	false	false	false	false	false	false	false	false	false	false	false	false	false	false		false		false		false	false	false				false					false																																														
 RP4-749H3.1		__UNKNOWN__	hg19	1	20750561	20750561	+	RNA	SNP	A	A	G			__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	NA	NA	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	g.chr1:20750561A>G	ENST00000426428.1	-			c.e1-4516T>C									__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__								__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__		AGTAAACGAAAAAGATAATAT	0.30673316708229426	__UNKNOWN__	__UNKNOWN__								__UNKNOWN__	__UNKNOWN__	__UNKNOWN__																																																											false	false		false	false			false	false	false		false	false	false	false	false	false	false	false	false	false	false	false	false	false	false	false	false	false	false	false	false	false		false		false		false	false	false				false					false																																														
 MUL1		__UNKNOWN__	hg19	1	20826910	20826910	+	3'UTR	SNP	G	G	A			__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	NA	NA	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	g.chr1:20826910G>A	ENST00000264198.3	-	4											__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__								__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__		AGTCACACTCGCACTGATCTG	0.5635910224438903	__UNKNOWN__	__UNKNOWN__								__UNKNOWN__	__UNKNOWN__	__UNKNOWN__																																																											false	false		false	false			false	false	false		false	false	false	false	false	false	false	false	false	false	false	false	false	false	false	false	false	false	false	false	false	false		false		false		false	false	false				false					false																																														
 CDA		__UNKNOWN__	hg19	1	20915507	20915507	+	5'UTR	SNP	G	G	A			__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	NA	NA	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	g.chr1:20915507G>A	ENST00000375071.3	+	1					CDA_ENST00000461985.1_5'Flank						__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__								__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__		GAGAGCCTGCGGTCTGGCTGC	0.6184538653366584	__UNKNOWN__	__UNKNOWN__								__UNKNOWN__	__UNKNOWN__	__UNKNOWN__																																																											false	false		false	false			false	false	false		false	false	false	false	false	false	false	false	false	false	false	false	false	false	false	false	false	false	false	false	false	false		false		false		false	false	false				false					false																																														
@@ -1090,19 +1090,19 @@ NBPF3		__UNKNOWN__	hg19	1	21800057	21800058	+	Frame_Shift_Ins	INS	-	-	C	74764585
 ALPL		__UNKNOWN__	hg19	1	21894605	21894606	+	Frame_Shift_Del	DEL	G	G	-	769948289		__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	NA	NA	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	g.chr1:21894605delG	ENST00000374840.3	+	7	906	c.657delG	c.(655-657)atgfs	p.G221fs	ALPL_ENST00000374832.1_Frame_Shift_Del_p.G221fs|ALPL_ENST00000425315.2_Frame_Shift_Del_p.G221fs|ALPL_ENST00000540617.1_Frame_Shift_Del_p.G166fs|ALPL_ENST00000539907.1_Frame_Shift_Del_p.G144fs|ALPL_ENST00000374830.1_5'Flank						__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__								__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__		AGGTGATCATGGGGGGTGGCC	0.5685785536159601	__UNKNOWN__	__UNKNOWN__								__UNKNOWN__	__UNKNOWN__	__UNKNOWN__																																																											true	false		false	false			false	false	false	ALPL:249	false	true	false	false	false	false	false	false	false	false	true	false	false	false	false	false	false	false	false	true	false	false	0	false	0	false		false	false	false	DIV	0x050000001205000402000200	1	false	144	rs769948289		21894605	false																																														
 RP11-63N8.3		__UNKNOWN__	hg19	1	21914362	21914362	+	RNA	SNP	C	C	T			__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	NA	NA	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	g.chr1:21914362C>T	ENST00000457706.1	+			c.e1+780C>T									__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__								__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__		GGGAGGAAGGCGGCCCAGGAA	0.5910224438902744	__UNKNOWN__	__UNKNOWN__								__UNKNOWN__	__UNKNOWN__	__UNKNOWN__																																																											false	false		false	false			false	false	false		false	false	false	false	false	false	false	false	false	false	false	false	false	false	false	false	false	false	false	false	false	false		false		false		false	false	false				false					false																																														
 RAP1GAP		__UNKNOWN__	hg19	1	21976289	21976289	+	5'UTR	SNP	C	C	T			__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	NA	NA	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	g.chr1:21976289C>T	ENST00000374765.4	-	2					RAP1GAP_ENST00000542643.2_5'UTR|RAP1GAP_ENST00000290101.4_Splice_Site_p.G15G|RAP1GAP_ENST00000374757.3_Splice_Site						__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__								__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__		ACTTGTCCACCCTGAAACACA	0.5785536159600998	__UNKNOWN__	__UNKNOWN__								__UNKNOWN__	__UNKNOWN__	__UNKNOWN__																																																											false	false		false	false			false	false	false		false	false	false	false	false	false	false	false	false	false	false	false	false	false	false	false	false	false	false	false	false	false		false		false		false	false	false				false					false																																														
-LINC00339		__UNKNOWN__	hg19	1	22354866	22354866	+	RNA	SNP	T	T	C			__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	NA	NA	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	g.chr1:22354866T>C	ENST00000416769.1	+			c.e2-1907T>C									__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__								__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__		TGGGGCTGTATCCTAATGTGA	0.4488778054862843	__UNKNOWN__	__UNKNOWN__								__UNKNOWN__	__UNKNOWN__	__UNKNOWN__																																																											false	false		false	false			false	false	false		false	false	false	false	false	false	false	false	false	false	false	false	false	false	false	false	false	false	false	false	false	false		false		false		false	false	false				false					false																																														
+LINC00339		__UNKNOWN__	hg19	1	22354866	22354866	+	RNA	SNP	T	T	C			__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	NA	NA	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	g.chr1:22354866T>C	ENST00000416769.1	+			c.e2-1907T>C			RP1-224A6.3_ENST00000455966.1_5'Flank						__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__								__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__		TGGGGCTGTATCCTAATGTGA	0.4488778054862843	__UNKNOWN__	__UNKNOWN__								__UNKNOWN__	__UNKNOWN__	__UNKNOWN__																																																											false	false		false	false			false	false	false		false	false	false	false	false	false	false	false	false	false	false	false	false	false	false	false	false	false	false	false	false	false		false		false		false	false	false				false					false																																														
 ZBTB40		__UNKNOWN__	hg19	1	22855441	22855441	+	3'UTR	SNP	C	C	T			__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	NA	NA	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	g.chr1:22855441C>T	ENST00000375647.4	+	18					ZBTB40_ENST00000404138.1_3'UTR						__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__								__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__		ATCAGATGCCCTCTGGCCCAT	0.5187032418952618	__UNKNOWN__	__UNKNOWN__								__UNKNOWN__	__UNKNOWN__	__UNKNOWN__																																																											false	false		false	false			false	false	false		false	false	false	false	false	false	false	false	false	false	false	false	false	false	false	false	false	false	false	false	false	false		false		false		false	false	false				false					false																																														
 LUZP1		__UNKNOWN__	hg19	1	23435538	23435538	+	DE_NOVO_START_IN_FRAME	SNP	G	G	A	16827981	byFrequency;by1000genomes	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	NA	NA	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	g.chr1:23435538G>A	ENST00000302291.4	-	3					LUZP1_ENST00000314174.5_Intron|LUZP1_ENST00000418342.1_DE_NOVO_START_IN_FRAME|LUZP1_ENST00000374623.3_DE_NOVO_START_IN_FRAME						__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__								__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__		CAAGCTTTCCGTCAATACTTC	0.4339152119700748	__UNKNOWN__	__UNKNOWN__								__UNKNOWN__	__UNKNOWN__	__UNKNOWN__																																																											true	false	0.8674,0.1326	false	false	1		false	true	false	LUZP1:7798	true	true	false	true	true	false	false	false	false	false	false	false	false	false	false	false	false	false	false	false	false	false	0	true	0	false	0.807164,0.192836	false	false	true	SNV	0x050100400005150537000100	1	false	123	rs16827981		23435538	true																																														
 TCEA3		__UNKNOWN__	hg19	1	23720492	23720493	+	Frame_Shift_Del	DEL	C	C	-	769709955	byFrequency	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	NA	NA	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	g.chr1:23720492delC	ENST00000450454.2	-	8	807	c.699delG	c.(697-699)aagfs	p.K233fs							__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__								__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__		GGTTCCGGTACTTCATGTCCG	0.6034912718204489	__UNKNOWN__	__UNKNOWN__								__UNKNOWN__	__UNKNOWN__	__UNKNOWN__																																																											true	false		false	false			false	false	false	TCEA3:6920	false	true	false	false	false	false	false	false	false	false	true	false	false	false	false	false	false	false	false	true	false	false	0	false	0	false		false	false	false	DIV	0x050000001205040402000200	1	false	144	rs769709955		23720492	true																																														
 TCEA3		__UNKNOWN__	hg19	1	23751126	23751126	+	START_CODON_SNP	SNP	T	T	A	200503010	byFrequency	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	NA	NA	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	g.chr1:23751126T>A	ENST00000450454.2	-	1	108	c.1A>T	c.(1-3)Atg>Ttg	p.M1L	TCEA3_ENST00000374601.3_START_CODON_SNP_p.M1L						__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__								__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__		TCCTGGCCCATGTTGGCCCGC	0.7506234413965087	__UNKNOWN__	__UNKNOWN__								__UNKNOWN__	__UNKNOWN__	__UNKNOWN__																																																											true	false		false	false			false	false	false	TCEA3:6920	false	true	false	false	false	false	false	false	false	false	false	true	false	false	false	false	false	false	false	true	false	true	0	false	0	false	0.999794,0.000171715,3.4343e-005	false	false	false	SNV	0x050200000a05040402000100	1	false	137	rs200503010		23751126	true																																														
 ASAP3		__UNKNOWN__	hg19	1	23756350	23756350	+	Nonstop_Mutation	SNP	T	T	C	148021104		__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	NA	NA	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	g.chr1:23756350T>C	ENST00000336689.3	-	25	2756	c.2711A>G	c.(2710-2712)tAg>tGg	p.*904W	ASAP3_ENST00000437606.2_Nonstop_Mutation_p.*895W|ASAP3_ENST00000495646.1_Nonstop_Mutation_p.*408W						__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__								__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__		AGCAAGGAGCTAGTCTTGCAA	0.4763092269326683	__UNKNOWN__	__UNKNOWN__								__UNKNOWN__	__UNKNOWN__	__UNKNOWN__																																																											true	false		false	false			false	false	false	ASAP3:55616	false	true	false	false	false	false	false	false	false	false	false	false	false	false	false	false	false	false	false	true	false	false	0	false	0	false		false	false	false	SNV	0x050000000205000402000100	1	false	134	rs148021104		23756350	false																																														
-RP5-886K2.3		__UNKNOWN__	hg19	1	24100223	24100223	+	RNA	SNP	C	C	T			__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	NA	NA	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	g.chr1:24100223C>T	ENST00000427796.1	-			c.e2+1307G>A			RP5-886K2.3_ENST00000447961.1_5'Flank						__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__								__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__		CCTGGAAGGGCCTTGTGTCCA	0.4389027431421446	__UNKNOWN__	__UNKNOWN__								__UNKNOWN__	__UNKNOWN__	__UNKNOWN__																																																											false	false		false	false			false	false	false		false	false	false	false	false	false	false	false	false	false	false	false	false	false	false	false	false	false	false	false	false	false		false		false		false	false	false				false					false																																														
+PITHD1		__UNKNOWN__	hg19	1	24100223	24100223	+	5'Flank	SNP	C	C	T			__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	NA	NA	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	g.chr1:24100223C>T	ENST00000246151.4	+						RP5-886K2.3_ENST00000427796.1_RNA|RP5-886K2.3_ENST00000447961.1_5'Flank						__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__								__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__		CCTGGAAGGGCCTTGTGTCCA	0.4389027431421446	__UNKNOWN__	__UNKNOWN__								__UNKNOWN__	__UNKNOWN__	__UNKNOWN__																																																											false	false		false	false			false	false	false		false	false	false	false	false	false	false	false	false	false	false	false	false	false	false	false	false	false	false	false	false	false		false		false		false	false	false				false					false																																														
 CNR2		__UNKNOWN__	hg19	1	24201028	24201029	+	Frame_Shift_Del	DEL	G	G	-	758031503	byFrequency	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	NA	NA	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	g.chr1:24201028delG	ENST00000374472.4	-	2	1243	c.1080delC	c.(1078-1080)tgcfs	p.*361fs	CNR2_ENST00000536471.1_Frame_Shift_Del_p.*361fs						__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__								__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__		GGCCTCATCAGCAATCAGAGA	0.5286783042394015	__UNKNOWN__	__UNKNOWN__								__UNKNOWN__	__UNKNOWN__	__UNKNOWN__																																																											true	false		false	false			false	false	false	CNR2:1269	false	true	false	false	false	false	false	false	false	false	true	false	false	false	false	false	false	false	false	true	false	false	0	false	0	false		false	false	false	DIV	0x050000001205040402000200	1	false	144	rs758031503		24201028	true																																														
 RP11-293P20.2		__UNKNOWN__	hg19	1	24372971	24372971	+	RNA	SNP	C	C	T			__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	NA	NA	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	g.chr1:24372971C>T	ENST00000439239.2	+			c.e2+4136C>T									__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__								__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__		GTGACTGTATCCGCCCACATT	0.49625935162094764	__UNKNOWN__	__UNKNOWN__								__UNKNOWN__	__UNKNOWN__	__UNKNOWN__																																																											false	false		false	false			false	false	false		false	false	false	false	false	false	false	false	false	false	false	false	false	false	false	false	false	false	false	false	false	false		false		false		false	false	false				false					false																																														
 RP11-293P20.2		__UNKNOWN__	hg19	1	24377326	24377326	+	RNA	SNP	T	T	C			__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	NA	NA	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	g.chr1:24377326T>C	ENST00000439239.2	+			c.e2+8491T>C									__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__								__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__		TGAGGCCTGCTCCAGCTCCAG	0.5112219451371571	__UNKNOWN__	__UNKNOWN__								__UNKNOWN__	__UNKNOWN__	__UNKNOWN__																																																											false	false		false	false			false	false	false		false	false	false	false	false	false	false	false	false	false	false	false	false	false	false	false	false	false	false	false	false	false		false		false		false	false	false				false					false																																														
 RP11-293P20.2		__UNKNOWN__	hg19	1	24379601	24379601	+	RNA	SNP	T	T	C			__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	NA	NA	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	g.chr1:24379601T>C	ENST00000439239.2	+			c.e2+10766T>C									__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__								__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__		TTAGTCCATGTTGTGTTGCTA	0.5236907730673317	__UNKNOWN__	__UNKNOWN__								__UNKNOWN__	__UNKNOWN__	__UNKNOWN__																																																											false	false		false	false			false	false	false		false	false	false	false	false	false	false	false	false	false	false	false	false	false	false	false	false	false	false	false	false	false		false		false		false	false	false				false					false																																														
-MYOM3		__UNKNOWN__	hg19	1	24389632	24389633	+	Frame_Shift_Del	DEL	T	T	-			__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	NA	NA	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	g.chr1:24389632delT	ENST00000374434.3	-	32	3918	c.3754delA	c.(3754-3756)accfs	p.T1252fs	MYOM3_ENST00000338909.5_Frame_Shift_Del_p.T145fs|MYOM3_ENST00000330966.7_Frame_Shift_Del_p.T1255fs|RP11-293P20.2_ENST00000439239.2_RNA						__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__								__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__		AACCAGGTGGTTTTCATGTAC	0.5785536159600998	__UNKNOWN__	__UNKNOWN__								__UNKNOWN__	__UNKNOWN__	__UNKNOWN__																																																											false	false		false	false			false	false	false		false	false	false	false	false	false	false	false	false	false	false	false	false	false	false	false	false	false	false	false	false	false		false		false		false	false	false				false					false																																														
-MYOM3		__UNKNOWN__	hg19	1	24390613	24390614	+	Frame_Shift_Del	DEL	C	C	-			__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	NA	NA	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	g.chr1:24390613delC	ENST00000374434.3	-	30	3735	c.3571delG	c.(3571-3573)gttfs	p.V1191fs	MYOM3_ENST00000338909.5_Frame_Shift_Del_p.V84fs|MYOM3_ENST00000330966.7_Frame_Shift_Del_p.V1194fs|RP11-293P20.2_ENST00000439239.2_RNA						__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__								__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__		TCGTCAGAAACCATCGCTCTG	0.5361596009975063	__UNKNOWN__	__UNKNOWN__								__UNKNOWN__	__UNKNOWN__	__UNKNOWN__																																																											false	false		false	false			false	false	false		false	false	false	false	false	false	false	false	false	false	false	false	false	false	false	false	false	false	false	false	false	false		false		false		false	false	false				false					false																																														
+MYOM3		__UNKNOWN__	hg19	1	24389632	24389633	+	Frame_Shift_Del	DEL	T	T	-			__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	NA	NA	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	g.chr1:24389632delT	ENST00000374434.3	-	32	3918	c.3754delA	c.(3754-3756)accfs	p.T1252fs	MYOM3_ENST00000338909.5_Frame_Shift_Del_p.T145fs|MYOM3_ENST00000330966.7_Frame_Shift_Del_p.T1255fs|RP11-293P20.2_ENST00000439239.2_RNA|RP11-293P20.4_ENST00000429191.1_5'Flank						__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__								__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__		AACCAGGTGGTTTTCATGTAC	0.5785536159600998	__UNKNOWN__	__UNKNOWN__								__UNKNOWN__	__UNKNOWN__	__UNKNOWN__																																																											false	false		false	false			false	false	false		false	false	false	false	false	false	false	false	false	false	false	false	false	false	false	false	false	false	false	false	false	false		false		false		false	false	false				false					false																																														
+MYOM3		__UNKNOWN__	hg19	1	24390613	24390614	+	Frame_Shift_Del	DEL	C	C	-			__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	NA	NA	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	g.chr1:24390613delC	ENST00000374434.3	-	30	3735	c.3571delG	c.(3571-3573)gttfs	p.V1191fs	MYOM3_ENST00000338909.5_Frame_Shift_Del_p.V84fs|MYOM3_ENST00000330966.7_Frame_Shift_Del_p.V1194fs|RP11-293P20.2_ENST00000439239.2_RNA|RP11-293P20.4_ENST00000429191.1_5'Flank						__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__								__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__		TCGTCAGAAACCATCGCTCTG	0.5361596009975063	__UNKNOWN__	__UNKNOWN__								__UNKNOWN__	__UNKNOWN__	__UNKNOWN__																																																											false	false		false	false			false	false	false		false	false	false	false	false	false	false	false	false	false	false	false	false	false	false	false	false	false	false	false	false	false		false		false		false	false	false				false					false																																														
 RP11-10N16.2		__UNKNOWN__	hg19	1	24527095	24527095	+	RNA	SNP	T	T	C			__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	NA	NA	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	g.chr1:24527095T>C	ENST00000439059.2	+			c.e1+214T>C									__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__								__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__		TGAGATGTATTGAAAGATTTG	0.44139650872817954	__UNKNOWN__	__UNKNOWN__								__UNKNOWN__	__UNKNOWN__	__UNKNOWN__																																																											false	false		false	false			false	false	false		false	false	false	false	false	false	false	false	false	false	false	false	false	false	false	false	false	false	false	false	false	false		false		false		false	false	false				false					false																																														
 RP11-10N16.2		__UNKNOWN__	hg19	1	24531634	24531634	+	RNA	SNP	C	C	A			__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	NA	NA	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	g.chr1:24531634C>A	ENST00000439059.2	+			c.e2+2545C>A									__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__								__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__		AGAGAGCTAACGTAACTTGCC	0.43640897755610975	__UNKNOWN__	__UNKNOWN__								__UNKNOWN__	__UNKNOWN__	__UNKNOWN__																																																											false	false		false	false			false	false	false		false	false	false	false	false	false	false	false	false	false	false	false	false	false	false	false	false	false	false	false	false	false		false		false		false	false	false				false					false																																														
 RP11-10N16.2		__UNKNOWN__	hg19	1	24537652	24537652	+	RNA	SNP	C	C	A			__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	NA	NA	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	g.chr1:24537652C>A	ENST00000439059.2	+			c.e3-531C>A									__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__								__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__		CAAATCACTTCTCCAGGAAGT	0.5211970074812967	__UNKNOWN__	__UNKNOWN__								__UNKNOWN__	__UNKNOWN__	__UNKNOWN__																																																											false	false		false	false			false	false	false		false	false	false	false	false	false	false	false	false	false	false	false	false	false	false	false	false	false	false	false	false	false		false		false		false	false	false				false					false																																														
@@ -1112,27 +1112,27 @@ GRHL3		__UNKNOWN__	hg19	1	24645356	24645356	+	5'Flank	SNP	A	A	G			__UNKNOWN__	__
 STPG1		__UNKNOWN__	hg19	1	24687425	24687426	+	Frame_Shift_Ins	INS	-	-	A	868621625		__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	NA	NA	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	g.chr1:24687425_24687426insA	ENST00000374409.1	-	8	1099	c.843_844insT	c.(844-846)aagfs	p.K282fs	STPG1_ENST00000337248.4_Frame_Shift_Ins_p.K282fs|STPG1_ENST00000003583.8_Frame_Shift_Ins_p.K235fs|GRHL3_ENST00000350501.5_Intron|STPG1_ENST00000440416.1_Frame_Shift_Ins_p.K235fs|STPG1_ENST00000468303.1_Intron						__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__								__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__		TGAAATGCTTGCGGGGGCCT	0.5	__UNKNOWN__	__UNKNOWN__								__UNKNOWN__	__UNKNOWN__	__UNKNOWN__																																																											true	false		false	false			false	false	false	STPG1:90529|GRHL3:57822	false	true	true	false	false	false	false	false	false	false	true	false	false	false	false	false	false	false	false	true	false	false	0	false	0	false		false	false	false	DIV	0x050000081205000402000200	1	false	147	rs868621625		24687425	false																																														
 RP4-594I10.3		__UNKNOWN__	hg19	1	24876383	24876383	+	RNA	SNP	T	T	C			__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	NA	NA	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	g.chr1:24876383T>C	ENST00000577528.1	-			c.e2-1996A>G									__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__								__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__		GGGACTTGGATGCTGAATCAA	0.4513715710723192	__UNKNOWN__	__UNKNOWN__								__UNKNOWN__	__UNKNOWN__	__UNKNOWN__																																																											false	false		false	false			false	false	false		false	false	false	false	false	false	false	false	false	false	false	false	false	false	false	false	false	false	false	false	false	false		false		false		false	false	false				false					false																																														
 RP4-594I10.3		__UNKNOWN__	hg19	1	24877458	24877458	+	RNA	SNP	A	A	G			__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	NA	NA	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	g.chr1:24877458A>G	ENST00000577528.1	-			c.e2-921T>C									__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__								__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__		TTTTTCTCCAAAGCACTTATT	0.49625935162094764	__UNKNOWN__	__UNKNOWN__								__UNKNOWN__	__UNKNOWN__	__UNKNOWN__																																																											false	false		false	false			false	false	false		false	false	false	false	false	false	false	false	false	false	false	false	false	false	false	false	false	false	false	false	false	false		false		false		false	false	false				false					false																																														
-RP4-594I10.3		__UNKNOWN__	hg19	1	24881126	24881126	+	RNA	SNP	C	C	T			__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	NA	NA	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	g.chr1:24881126C>T	ENST00000577528.1	-			c.e1-1181G>A									__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__								__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__		TGGCCTCTCCCTGTAACCAGG	0.5062344139650873	__UNKNOWN__	__UNKNOWN__								__UNKNOWN__	__UNKNOWN__	__UNKNOWN__																																																											false	false		false	false			false	false	false		false	false	false	false	false	false	false	false	false	false	false	false	false	false	false	false	false	false	false	false	false	false		false		false		false	false	false				false					false																																														
-RP4-594I10.3		__UNKNOWN__	hg19	1	24881453	24881453	+	RNA	SNP	G	G	T			__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	NA	NA	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	g.chr1:24881453G>T	ENST00000577528.1	-			c.e1-854C>A									__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__								__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__		TGGGTTGGGAGCAGTGGCTCA	0.5087281795511222	__UNKNOWN__	__UNKNOWN__								__UNKNOWN__	__UNKNOWN__	__UNKNOWN__																																																											false	false		false	false			false	false	false		false	false	false	false	false	false	false	false	false	false	false	false	false	false	false	false	false	false	false	false	false	false		false		false		false	false	false				false					false																																														
+NCMAP		__UNKNOWN__	hg19	1	24881126	24881126	+	5'Flank	SNP	C	C	T			__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	NA	NA	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	g.chr1:24881126C>T	ENST00000374392.2	+						RP4-594I10.3_ENST00000577528.1_RNA						__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__								__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__		TGGCCTCTCCCTGTAACCAGG	0.5062344139650873	__UNKNOWN__	__UNKNOWN__								__UNKNOWN__	__UNKNOWN__	__UNKNOWN__																																																											false	false		false	false			false	false	false		false	false	false	false	false	false	false	false	false	false	false	false	false	false	false	false	false	false	false	false	false	false		false		false		false	false	false				false					false																																														
+NCMAP		__UNKNOWN__	hg19	1	24881453	24881453	+	5'Flank	SNP	G	G	T			__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	NA	NA	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	g.chr1:24881453G>T	ENST00000374392.2	+						RP4-594I10.3_ENST00000577528.1_RNA						__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__								__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__		TGGGTTGGGAGCAGTGGCTCA	0.5087281795511222	__UNKNOWN__	__UNKNOWN__								__UNKNOWN__	__UNKNOWN__	__UNKNOWN__																																																											false	false		false	false			false	false	false		false	false	false	false	false	false	false	false	false	false	false	false	false	false	false	false	false	false	false	false	false	false		false		false		false	false	false				false					false																																														
 RP11-84D1.2		__UNKNOWN__	hg19	1	25297184	25297184	+	RNA	SNP	G	G	A			__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	NA	NA	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	g.chr1:25297184G>A	ENST00000568143.1	-			c.e1-172C>T									__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__								__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__		GCCACATCCCGTCGTGTCCCC	0.5910224438902744	__UNKNOWN__	__UNKNOWN__								__UNKNOWN__	__UNKNOWN__	__UNKNOWN__																																																											false	false		false	false			false	false	false		false	false	false	false	false	false	false	false	false	false	false	false	false	false	false	false	false	false	false	false	false	false		false		false		false	false	false				false					false																																														
 RP11-84D1.2		__UNKNOWN__	hg19	1	25297184	25297184	+	RNA	SNP	G	G	A			__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	NA	NA	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	g.chr1:25297184G>A	ENST00000568143.1	-			c.e1-172C>T									__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__								__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__		GCCACATCCCGTCGTGTCCCC	0.5910224438902744	__UNKNOWN__	__UNKNOWN__								__UNKNOWN__	__UNKNOWN__	__UNKNOWN__																																																											false	false		false	false			false	false	false		false	false	false	false	false	false	false	false	false	false	false	false	false	false	false	false	false	false	false	false	false	false		false		false		false	false	false				false					false																																														
 RP11-84D1.2		__UNKNOWN__	hg19	1	25297217	25297217	+	RNA	SNP	G	G	T			__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	NA	NA	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	g.chr1:25297217G>T	ENST00000568143.1	-			c.e1-139C>A									__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__								__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__		CACTCCCCGTGTCTCCCTAAA	0.5885286783042394	__UNKNOWN__	__UNKNOWN__								__UNKNOWN__	__UNKNOWN__	__UNKNOWN__																																																											false	false		false	false			false	false	false		false	false	false	false	false	false	false	false	false	false	false	false	false	false	false	false	false	false	false	false	false	false		false		false		false	false	false				false					false																																														
 RP11-70P17.1		__UNKNOWN__	hg19	1	25908241	25908241	+	RNA	SNP	C	C	T			__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	NA	NA	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	g.chr1:25908241C>T	ENST00000412797.1	+			c.e1-22C>T									__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__								__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__		TGACCTGGACCGCATCCCGGT	0.5960099750623441	__UNKNOWN__	__UNKNOWN__								__UNKNOWN__	__UNKNOWN__	__UNKNOWN__																																																											false	false		false	false			false	false	false		false	false	false	false	false	false	false	false	false	false	false	false	false	false	false	false	false	false	false	false	false	false		false		false		false	false	false				false					false																																														
 RP11-70P17.1		__UNKNOWN__	hg19	1	25908805	25908805	+	RNA	SNP	T	T	C			__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	NA	NA	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	g.chr1:25908805T>C	ENST00000412797.1	+			c.e1+542T>C									__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__								__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__		GGTCTGGGCGTGGTGGCTCAC	0.486284289276808	__UNKNOWN__	__UNKNOWN__								__UNKNOWN__	__UNKNOWN__	__UNKNOWN__																																																											false	false		false	false			false	false	false		false	false	false	false	false	false	false	false	false	false	false	false	false	false	false	false	false	false	false	false	false	false		false		false		false	false	false				false					false																																														
 RP11-70P17.1		__UNKNOWN__	hg19	1	25914219	25914219	+	RNA	SNP	T	T	C			__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	NA	NA	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	g.chr1:25914219T>C	ENST00000412797.1	+			c.e2-2441T>C									__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__								__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__		AAAGAGTTACTGAGAACTGCT	0.48877805486284287	__UNKNOWN__	__UNKNOWN__								__UNKNOWN__	__UNKNOWN__	__UNKNOWN__																																																											false	false		false	false			false	false	false		false	false	false	false	false	false	false	false	false	false	false	false	false	false	false	false	false	false	false	false	false	false		false		false		false	false	false				false					false																																														
-AUNIP		__UNKNOWN__	hg19	1	26161572	26161573	+	Frame_Shift_Del	DEL	T	T	-			__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	NA	NA	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	g.chr1:26161572delT	ENST00000374298.3	-	3	1042	c.986delA	c.(985-987)cagfs	p.Q329fs	AUNIP_ENST00000538789.1_Frame_Shift_Del_p.Q329fs|AUNIP_ENST00000481602.1_Intron						__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__								__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__		CCCATCCTCCTGGCACTGAGC	0.44139650872817954	__UNKNOWN__	__UNKNOWN__								__UNKNOWN__	__UNKNOWN__	__UNKNOWN__																																																											false	false		false	false			false	false	false		false	false	false	false	false	false	false	false	false	false	false	false	false	false	false	false	false	false	false	false	false	false		false		false		false	false	false				false					false																																														
-AUNIP		__UNKNOWN__	hg19	1	26161630	26161631	+	Frame_Shift_Del	DEL	T	T	-			__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	NA	NA	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	g.chr1:26161630delT	ENST00000374298.3	-	3	984	c.928delA	c.(928-930)accfs	p.T310fs	AUNIP_ENST00000538789.1_Frame_Shift_Del_p.T310fs|AUNIP_ENST00000481602.1_Intron						__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__								__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__		CAGTTATTGGTTACATCTTGA	0.4339152119700748	__UNKNOWN__	__UNKNOWN__								__UNKNOWN__	__UNKNOWN__	__UNKNOWN__																																																											false	false		false	false			false	false	false		false	false	false	false	false	false	false	false	false	false	false	false	false	false	false	false	false	false	false	false	false	false		false		false		false	false	false				false					false																																														
-AUNIP		__UNKNOWN__	hg19	1	26161799	26161802	+	Frame_Shift_Del	DEL	GG	GG	-			__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	NA	NA	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	g.chr1:26161799_26161800delGG	ENST00000374298.3	-	3	815_816	c.758_759delCC	c.(757-762)tcctggfs	p.S253fs	AUNIP_ENST00000538789.1_Frame_Shift_Del_p.S253fs|AUNIP_ENST00000481602.1_Intron						__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__								__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__		CTCCATTCCAGGATTCCCTGTA	0.4527363184079602	__UNKNOWN__	__UNKNOWN__								__UNKNOWN__	__UNKNOWN__	__UNKNOWN__																																																											false	false		false	false			false	false	false		false	false	false	false	false	false	false	false	false	false	false	false	false	false	false	false	false	false	false	false	false	false		false		false		false	false	false				false					false																																														
-AUNIP		__UNKNOWN__	hg19	1	26161916	26161917	+	Frame_Shift_Del	DEL	G	G	-			__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	NA	NA	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	g.chr1:26161916delG	ENST00000374298.3	-	3	698	c.642delC	c.(640-642)cacfs	p.H214fs	AUNIP_ENST00000538789.1_Frame_Shift_Del_p.H214fs|AUNIP_ENST00000481602.1_Intron						__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__								__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__		GTAGTTTGGTGTGTTTCTCCA	0.4488778054862843	__UNKNOWN__	__UNKNOWN__								__UNKNOWN__	__UNKNOWN__	__UNKNOWN__																																																											false	false		false	false			false	false	false		false	false	false	false	false	false	false	false	false	false	false	false	false	false	false	false	false	false	false	false	false	false		false		false		false	false	false				false					false																																														
+AUNIP		__UNKNOWN__	hg19	1	26161572	26161573	+	Frame_Shift_Del	DEL	T	T	-			__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	NA	NA	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	g.chr1:26161572delT	ENST00000374298.3	-	3	1042	c.986delA	c.(985-987)cagfs	p.Q329fs	AUNIP_ENST00000538789.1_Frame_Shift_Del_p.Q329fs|AUNIP_ENST00000481602.1_Intron|RP1-317E23.7_ENST00000606617.1_5'Flank						__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__								__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__		CCCATCCTCCTGGCACTGAGC	0.44139650872817954	__UNKNOWN__	__UNKNOWN__								__UNKNOWN__	__UNKNOWN__	__UNKNOWN__																																																											false	false		false	false			false	false	false		false	false	false	false	false	false	false	false	false	false	false	false	false	false	false	false	false	false	false	false	false	false		false		false		false	false	false				false					false																																														
+AUNIP		__UNKNOWN__	hg19	1	26161630	26161631	+	Frame_Shift_Del	DEL	T	T	-			__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	NA	NA	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	g.chr1:26161630delT	ENST00000374298.3	-	3	984	c.928delA	c.(928-930)accfs	p.T310fs	AUNIP_ENST00000538789.1_Frame_Shift_Del_p.T310fs|AUNIP_ENST00000481602.1_Intron|RP1-317E23.7_ENST00000606617.1_5'Flank						__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__								__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__		CAGTTATTGGTTACATCTTGA	0.4339152119700748	__UNKNOWN__	__UNKNOWN__								__UNKNOWN__	__UNKNOWN__	__UNKNOWN__																																																											false	false		false	false			false	false	false		false	false	false	false	false	false	false	false	false	false	false	false	false	false	false	false	false	false	false	false	false	false		false		false		false	false	false				false					false																																														
+AUNIP		__UNKNOWN__	hg19	1	26161799	26161802	+	Frame_Shift_Del	DEL	GG	GG	-			__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	NA	NA	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	g.chr1:26161799_26161800delGG	ENST00000374298.3	-	3	815_816	c.758_759delCC	c.(757-762)tcctggfs	p.S253fs	AUNIP_ENST00000538789.1_Frame_Shift_Del_p.S253fs|AUNIP_ENST00000481602.1_Intron|RP1-317E23.7_ENST00000606617.1_5'Flank						__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__								__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__		CTCCATTCCAGGATTCCCTGTA	0.4527363184079602	__UNKNOWN__	__UNKNOWN__								__UNKNOWN__	__UNKNOWN__	__UNKNOWN__																																																											false	false		false	false			false	false	false		false	false	false	false	false	false	false	false	false	false	false	false	false	false	false	false	false	false	false	false	false	false		false		false		false	false	false				false					false																																														
+AUNIP		__UNKNOWN__	hg19	1	26161916	26161917	+	Frame_Shift_Del	DEL	G	G	-			__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	NA	NA	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	g.chr1:26161916delG	ENST00000374298.3	-	3	698	c.642delC	c.(640-642)cacfs	p.H214fs	AUNIP_ENST00000538789.1_Frame_Shift_Del_p.H214fs|AUNIP_ENST00000481602.1_Intron|RP1-317E23.7_ENST00000606617.1_5'Flank						__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__								__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__		GTAGTTTGGTGTGTTTCTCCA	0.4488778054862843	__UNKNOWN__	__UNKNOWN__								__UNKNOWN__	__UNKNOWN__	__UNKNOWN__																																																											false	false		false	false			false	false	false		false	false	false	false	false	false	false	false	false	false	false	false	false	false	false	false	false	false	false	false	false	false		false		false		false	false	false				false					false																																														
 AUNIP		__UNKNOWN__	hg19	1	26164009	26164010	+	Frame_Shift_Del	DEL	G	G	-			__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	NA	NA	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	g.chr1:26164009delG	ENST00000374298.3	-	2	171	c.115delC	c.(115-117)ctcfs	p.L39fs	AUNIP_ENST00000538789.1_Frame_Shift_Del_p.L39fs|AUNIP_ENST00000481602.1_Intron						__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__								__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__		CCAGGAAGGAGTGTTAGCATT	0.39650872817955113	__UNKNOWN__	__UNKNOWN__								__UNKNOWN__	__UNKNOWN__	__UNKNOWN__																																																											false	false		false	false			false	false	false		false	false	false	false	false	false	false	false	false	false	false	false	false	false	false	false	false	false	false	false	false	false		false		false		false	false	false				false					false																																														
 PAFAH2		__UNKNOWN__	hg19	1	26301007	26301008	+	Frame_Shift_Del	DEL	C	C	-			__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	NA	NA	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	g.chr1:26301007delC	ENST00000374282.3	-	9	1074	c.893delG	c.(892-894)tgtfs	p.C298fs	PAFAH2_ENST00000374284.1_Frame_Shift_Del_p.C298fs						__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__								__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__		ATGCTGGGCACATATCTTCTT	0.4538653366583541	__UNKNOWN__	__UNKNOWN__								__UNKNOWN__	__UNKNOWN__	__UNKNOWN__																																																											false	false		false	false			false	false	false		false	false	false	false	false	false	false	false	false	false	false	false	false	false	false	false	false	false	false	false	false	false		false		false		false	false	false				false					false																																														
 ZNF593		__UNKNOWN__	hg19	1	26496455	26496455	+	5'UTR	SNP	C	C	T			__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	NA	NA	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	g.chr1:26496455C>T	ENST00000374266.5	+	1					ZNF593_ENST00000270812.5_5'UTR|RP11-96L14.7_ENST00000407889.2_RNA						__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__								__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__		GCCCCTTGGCCGGCCGGGCTG	0.71571072319202	__UNKNOWN__	__UNKNOWN__								__UNKNOWN__	__UNKNOWN__	__UNKNOWN__																																																											false	false		false	false			false	false	false		false	false	false	false	false	false	false	false	false	false	false	false	false	false	false	false	false	false	false	false	false	false		false		false		false	false	false				false					false																																														
 CEP85		__UNKNOWN__	hg19	1	26560745	26560745	+	5'UTR	SNP	G	G	A			__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	NA	NA	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	g.chr1:26560745G>A	ENST00000252992.4	+	1					CEP85_ENST00000451429.2_5'UTR						__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__								__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__		CCGCAGACGTGGTGGCTGCAG	0.6758104738154613	__UNKNOWN__	__UNKNOWN__								__UNKNOWN__	__UNKNOWN__	__UNKNOWN__																																																											false	false		false	false			false	false	false		false	false	false	false	false	false	false	false	false	false	false	false	false	false	false	false	false	false	false	false	false	false		false		false		false	false	false				false					false																																														
 CEP85		__UNKNOWN__	hg19	1	26570763	26570764	+	Frame_Shift_Del	DEL	C	C	-			__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	NA	NA	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	g.chr1:26570763delC	ENST00000252992.4	+	3	292	c.162delC	c.(160-162)gacfs	p.D54fs	CEP85_ENST00000451429.2_Intron						__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__								__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__		GTGTAGCCGACAGTGGGGACA	0.428927680798005	__UNKNOWN__	__UNKNOWN__								__UNKNOWN__	__UNKNOWN__	__UNKNOWN__																																																											false	false		false	false			false	false	false		false	false	false	false	false	false	false	false	false	false	false	false	false	false	false	false	false	false	false	false	false	false		false		false		false	false	false				false					false																																														
-RP5-968P14.2		__UNKNOWN__	hg19	1	27020012	27020012	+	RNA	SNP	C	C	T			__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	NA	NA	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	g.chr1:27020012C>T	ENST00000569378.1	-			c.e1-610G>A									__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__								__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__		TTCCTGGGATCGTGGTGTGGG	0.5112219451371571	__UNKNOWN__	__UNKNOWN__								__UNKNOWN__	__UNKNOWN__	__UNKNOWN__																																																											false	false		false	false			false	false	false		false	false	false	false	false	false	false	false	false	false	false	false	false	false	false	false	false	false	false	false	false	false		false		false		false	false	false				false					false																																														
-RP11-40H20.4		__UNKNOWN__	hg19	1	27558522	27558522	+	RNA	SNP	C	C	T			__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	NA	NA	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	g.chr1:27558522C>T	ENST00000425205.1	-			c.e2-1414G>A									__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__								__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__		TGGTGGCGGGCGCCTGTAGTC	0.5286783042394015	__UNKNOWN__	__UNKNOWN__								__UNKNOWN__	__UNKNOWN__	__UNKNOWN__																																																											false	false		false	false			false	false	false		false	false	false	false	false	false	false	false	false	false	false	false	false	false	false	false	false	false	false	false	false	false		false		false		false	false	false				false					false																																														
+ARID1A		__UNKNOWN__	hg19	1	27020012	27020012	+	5'Flank	SNP	C	C	T			__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	NA	NA	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	g.chr1:27020012C>T	ENST00000324856.7	+						ARID1A_ENST00000457599.2_5'Flank|RP5-968P14.2_ENST00000569378.1_RNA						__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__								__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__		TTCCTGGGATCGTGGTGTGGG	0.5112219451371571	__UNKNOWN__	__UNKNOWN__								__UNKNOWN__	__UNKNOWN__	__UNKNOWN__																																																											false	false		false	false			false	false	false		false	false	false	false	false	false	false	false	false	false	false	false	false	false	false	false	false	false	false	false	false	false		false		false		false	false	false				false					false																																														
+WDTC1		__UNKNOWN__	hg19	1	27558522	27558522	+	5'Flank	SNP	C	C	T			__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	NA	NA	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	g.chr1:27558522C>T	ENST00000319394.3	+						WDTC1_ENST00000361771.3_5'Flank|RP11-40H20.4_ENST00000425205.1_RNA						__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__								__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__		TGGTGGCGGGCGCCTGTAGTC	0.5286783042394015	__UNKNOWN__	__UNKNOWN__								__UNKNOWN__	__UNKNOWN__	__UNKNOWN__																																																											false	false		false	false			false	false	false		false	false	false	false	false	false	false	false	false	false	false	false	false	false	false	false	false	false	false	false	false	false		false		false		false	false	false				false					false																																														
 STX12		__UNKNOWN__	hg19	1	28120133	28120134	+	Frame_Shift_Del	DEL	C	C	-			__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	NA	NA	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	g.chr1:28120133delC	ENST00000373943.4	+	3	402	c.278delC	c.(277-279)actfs	p.T93fs	STX12_ENST00000468761.1_Intron						__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__								__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__		CCCTTATCTACTTCAGAACAG	0.40399002493765584	__UNKNOWN__	__UNKNOWN__								__UNKNOWN__	__UNKNOWN__	__UNKNOWN__																																																											false	false		false	false			false	false	false		false	false	false	false	false	false	false	false	false	false	false	false	false	false	false	false	false	false	false	false	false	false		false		false		false	false	false				false					false																																														
-SNHG12		__UNKNOWN__	hg19	1	28906454	28906454	+	RNA	SNP	C	C	T			__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	NA	NA	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	g.chr1:28906454C>T	ENST00000488745.1	-			c.e4+30G>A			SNHG12_ENST00000531126.1_RNA|SNHG12_ENST00000483436.1_Splice_Site|SNHG12_ENST00000475441.1_Splice_Site|SNHG12_ENST00000384581.1_5'Flank						__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__								__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__		ACAAGCTCACCTCCTCAGTAT	0.48877805486284287	__UNKNOWN__	__UNKNOWN__								__UNKNOWN__	__UNKNOWN__	__UNKNOWN__																																																											false	false		false	false			false	false	false		false	false	false	false	false	false	false	false	false	false	false	false	false	false	false	false	false	false	false	false	false	false		false		false		false	false	false				false					false																																														
+SNHG12		__UNKNOWN__	hg19	1	28906454	28906454	+	RNA	SNP	C	C	T			__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	NA	NA	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	g.chr1:28906454C>T	ENST00000488745.1	-			c.e4+30G>A			SNHG12_ENST00000531126.1_RNA|SNHG12_ENST00000483436.1_Splice_Site|SNHG12_ENST00000475441.1_Splice_Site|SNHG12_ENST00000384581.1_5'Flank|SNORD99_ENST00000408612.1_5'Flank						__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__								__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__		ACAAGCTCACCTCCTCAGTAT	0.48877805486284287	__UNKNOWN__	__UNKNOWN__								__UNKNOWN__	__UNKNOWN__	__UNKNOWN__																																																											false	false		false	false			false	false	false		false	false	false	false	false	false	false	false	false	false	false	false	false	false	false	false	false	false	false	false	false	false		false		false		false	false	false				false					false																																														
 RP1-212P9.2		__UNKNOWN__	hg19	1	29194818	29194818	+	RNA	SNP	A	A	G			__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	NA	NA	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	g.chr1:29194818A>G	ENST00000443593.2	+			c.e1-254A>G									__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__								__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__		TAATACGATCATCAGCCTCAC	0.4937655860349127	__UNKNOWN__	__UNKNOWN__								__UNKNOWN__	__UNKNOWN__	__UNKNOWN__																																																											false	false		false	false			false	false	false		false	false	false	false	false	false	false	false	false	false	false	false	false	false	false	false	false	false	false	false	false	false		false		false		false	false	false				false					false																																														
 RP1-212P9.2		__UNKNOWN__	hg19	1	29194901	29194901	+	RNA	SNP	C	C	T			__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	NA	NA	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	g.chr1:29194901C>T	ENST00000443593.2	+			c.e1-171C>T									__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__								__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__		GTCACTTCACCTCCACGAGAG	0.4937655860349127	__UNKNOWN__	__UNKNOWN__								__UNKNOWN__	__UNKNOWN__	__UNKNOWN__																																																											false	false		false	false			false	false	false		false	false	false	false	false	false	false	false	false	false	false	false	false	false	false	false	false	false	false	false	false	false		false		false		false	false	false				false					false																																														
 RP1-212P9.3		__UNKNOWN__	hg19	1	29200219	29200219	+	RNA	SNP	T	T	C			__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	NA	NA	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	g.chr1:29200219T>C	ENST00000418471.1	-			c.e2+1219A>G									__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__								__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__		AGCTACACTCTTGGATCCCTG	0.5561097256857855	__UNKNOWN__	__UNKNOWN__								__UNKNOWN__	__UNKNOWN__	__UNKNOWN__																																																											false	false		false	false			false	false	false		false	false	false	false	false	false	false	false	false	false	false	false	false	false	false	false	false	false	false	false	false	false		false		false		false	false	false				false					false																																														
@@ -1140,29 +1140,29 @@ RP3-437I16.1		__UNKNOWN__	hg19	1	29658494	29658494	+	RNA	SNP	T	T	C			__UNKNOWN__
 RP3-437I16.1		__UNKNOWN__	hg19	1	29670073	29670073	+	RNA	SNP	T	T	C			__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	NA	NA	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	g.chr1:29670073T>C	ENST00000417651.1	-			c.e1-6122A>G									__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__								__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__		AGTCGTTCCATTTCCACACTT	0.5461346633416458	__UNKNOWN__	__UNKNOWN__								__UNKNOWN__	__UNKNOWN__	__UNKNOWN__																																																											false	false		false	false			false	false	false		false	false	false	false	false	false	false	false	false	false	false	false	false	false	false	false	false	false	false	false	false	false		false		false		false	false	false				false					false																																														
 RP11-111I12.1		__UNKNOWN__	hg19	1	30487342	30487342	+	RNA	SNP	T	T	C			__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	NA	NA	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	g.chr1:30487342T>C	ENST00000445180.2	-			c.e7-14A>G									__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__								__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__		AAGGAGAGCTTGGGGTGACTC	0.5286783042394015	__UNKNOWN__	__UNKNOWN__								__UNKNOWN__	__UNKNOWN__	__UNKNOWN__																																																											false	false		false	false			false	false	false		false	false	false	false	false	false	false	false	false	false	false	false	false	false	false	false	false	false	false	false	false	false		false		false		false	false	false				false					false																																														
 RP11-111I12.1		__UNKNOWN__	hg19	1	30494591	30494591	+	RNA	SNP	G	G	A			__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	NA	NA	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	g.chr1:30494591G>A	ENST00000445180.2	-			c.e4-3281C>T									__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__								__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__		TGAAAGTATCGCCATCTTAAC	0.29925187032418954	__UNKNOWN__	__UNKNOWN__								__UNKNOWN__	__UNKNOWN__	__UNKNOWN__																																																											false	false		false	false			false	false	false		false	false	false	false	false	false	false	false	false	false	false	false	false	false	false	false	false	false	false	false	false	false		false		false		false	false	false				false					false																																														
-MATN1-AS1		__UNKNOWN__	hg19	1	31198733	31198733	+	RNA	SNP	A	A	G			__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	NA	NA	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	g.chr1:31198733A>G	ENST00000414532.2	+			c.e3+151A>G			MATN1-AS1_ENST00000454613.1_RNA|MATN1-AS1_ENST00000443076.1_RNA						__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__								__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__		GGCTGTGTCCAGGGCTCAGGG	0.57356608478803	__UNKNOWN__	__UNKNOWN__								__UNKNOWN__	__UNKNOWN__	__UNKNOWN__																																																											false	false		false	false			false	false	false		false	false	false	false	false	false	false	false	false	false	false	false	false	false	false	false	false	false	false	false	false	false		false		false		false	false	false				false					false																																														
-RP11-73M7.6		__UNKNOWN__	hg19	1	32110813	32110813	+	RNA	SNP	A	A	G			__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	NA	NA	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	g.chr1:32110813A>G	ENST00000610043.1	+			c.e1+916A>G			RP11-73M7.6_ENST00000609549.1_RNA|RP11-73M7.6_ENST00000609625.1_RNA|RP11-73M7.6_ENST00000607926.1_RNA|RP11-73M7.6_ENST00000585660.1_RNA|RP11-73M7.6_ENST00000610216.1_RNA|RP11-73M7.6_ENST00000608246.1_RNA|RP11-73M7.6_ENST00000608888.1_RNA|RP11-73M7.6_ENST00000608332.1_RNA|RP11-73M7.6_ENST00000591592.1_RNA|RP11-73M7.9_ENST00000581333.1_RNA|RP11-73M7.6_ENST00000585413.1_5'Flank|RP11-73M7.6_ENST00000587445.1_5'Flank|RP11-73M7.6_ENST00000589462.1_5'Flank|RP11-73M7.6_ENST00000591929.1_5'Flank|RP11-73M7.6_ENST00000593188.1_5'Flank|RP11-73M7.6_ENST00000609033.1_5'Flank|RP11-73M7.6_ENST00000609338.1_5'Flank|RP11-73M7.6_ENST00000609373.1_5'Flank						__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__								__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__		AACCTGGCAAATGGGACGCAT	0.57356608478803	__UNKNOWN__	__UNKNOWN__								__UNKNOWN__	__UNKNOWN__	__UNKNOWN__																																																											false	false		false	false			false	false	false		false	false	false	false	false	false	false	false	false	false	false	false	false	false	false	false	false	false	false	false	false	false		false		false		false	false	false				false					false																																														
-PTP4A2		__UNKNOWN__	hg19	1	32374453	32374454	+	Frame_Shift_Del	DEL	C	C	-			__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	NA	NA	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	g.chr1:32374453delC	ENST00000602725.1	-	5	923	c.505_504delG	c.(502-504)tagfs	p.M169fs	PTP4A2_ENST00000457805.2_Frame_Shift_Del_p.M138fs|PTP4A2_ENST00000470404.1_3'UTR|PTP4A2_ENST00000344035.6_Frame_Shift_Del_p.M169fs|PTP4A2_ENST00000356536.3_3'UTR|RP11-84A19.4_ENST00000602889.1_RNA						__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__								__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__		ACATTTCCTTCTACTGAACAC	0.36159600997506236	__UNKNOWN__	__UNKNOWN__								__UNKNOWN__	__UNKNOWN__	__UNKNOWN__																																																											false	false		false	false			false	false	false		false	false	false	false	false	false	false	false	false	false	false	false	false	false	false	false	false	false	false	false	false	false		false		false		false	false	false				false					false																																														
+MATN1		__UNKNOWN__	hg19	1	31198733	31198733	+	5'Flank	SNP	A	A	G			__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	NA	NA	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	g.chr1:31198733A>G	ENST00000373765.4	-						MATN1-AS1_ENST00000414532.2_RNA|MATN1-AS1_ENST00000454613.1_RNA|MATN1-AS1_ENST00000443076.1_RNA						__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__								__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__		GGCTGTGTCCAGGGCTCAGGG	0.57356608478803	__UNKNOWN__	__UNKNOWN__								__UNKNOWN__	__UNKNOWN__	__UNKNOWN__																																																											false	false		false	false			false	false	false		false	false	false	false	false	false	false	false	false	false	false	false	false	false	false	false	false	false	false	false	false	false		false		false		false	false	false				false					false																																														
+PEF1		__UNKNOWN__	hg19	1	32110813	32110813	+	5'Flank	SNP	A	A	G			__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	NA	NA	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	g.chr1:32110813A>G	ENST00000373703.4	-						PEF1_ENST00000440872.2_5'Flank|PEF1_ENST00000492061.1_5'Flank|RP11-73M7.6_ENST00000610043.1_RNA|RP11-73M7.6_ENST00000609549.1_RNA|RP11-73M7.6_ENST00000609625.1_RNA|RP11-73M7.6_ENST00000607926.1_RNA|RP11-73M7.6_ENST00000585660.1_RNA|RP11-73M7.6_ENST00000610216.1_RNA|RP11-73M7.6_ENST00000608246.1_RNA|RP11-73M7.6_ENST00000608888.1_RNA|RP11-73M7.6_ENST00000608332.1_RNA|RP11-73M7.6_ENST00000591592.1_RNA|RP11-73M7.9_ENST00000581333.1_RNA|RP11-73M7.6_ENST00000585413.1_5'Flank|RP11-73M7.6_ENST00000587445.1_5'Flank|RP11-73M7.6_ENST00000589462.1_5'Flank|RP11-73M7.6_ENST00000591929.1_5'Flank|RP11-73M7.6_ENST00000593188.1_5'Flank|RP11-73M7.6_ENST00000609033.1_5'Flank|RP11-73M7.6_ENST00000609338.1_5'Flank|RP11-73M7.6_ENST00000609373.1_5'Flank						__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__								__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__		AACCTGGCAAATGGGACGCAT	0.57356608478803	__UNKNOWN__	__UNKNOWN__								__UNKNOWN__	__UNKNOWN__	__UNKNOWN__																																																											false	false		false	false			false	false	false		false	false	false	false	false	false	false	false	false	false	false	false	false	false	false	false	false	false	false	false	false	false		false		false		false	false	false				false					false																																														
+PTP4A2		__UNKNOWN__	hg19	1	32374453	32374454	+	Frame_Shift_Del	DEL	C	C	-			__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	NA	NA	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	g.chr1:32374453delC	ENST00000602725.1	-	5	923	c.505_504delG	c.(502-504)tagfs	p.M169fs	PTP4A2_ENST00000457805.2_Frame_Shift_Del_p.M138fs|PTP4A2_ENST00000470404.1_3'UTR|PTP4A2_ENST00000344035.6_Frame_Shift_Del_p.M169fs|PTP4A2_ENST00000356536.3_3'UTR|AL136115.1_ENST00000391369.1_5'Flank|RP11-84A19.4_ENST00000602889.1_RNA						__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__								__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__		ACATTTCCTTCTACTGAACAC	0.36159600997506236	__UNKNOWN__	__UNKNOWN__								__UNKNOWN__	__UNKNOWN__	__UNKNOWN__																																																											false	false		false	false			false	false	false		false	false	false	false	false	false	false	false	false	false	false	false	false	false	false	false	false	false	false	false	false	false		false		false		false	false	false				false					false																																														
 Y_RNA		__UNKNOWN__	hg19	1	32752074	32752074	+	RNA	SNP	G	G	A			__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	NA	NA	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	g.chr1:32752074G>A	ENST00000516641.1	-			c.e1+21C>T									__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__								__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__		CAAATGAAGCGGCGGGAATGG	0.47381546134663344	__UNKNOWN__	__UNKNOWN__								__UNKNOWN__	__UNKNOWN__	__UNKNOWN__																																																											false	false		false	false			false	false	false		false	false	false	false	false	false	false	false	false	false	false	false	false	false	false	false	false	false	false	false	false	false		false		false		false	false	false				false					false																																														
 RP11-114B7.6		__UNKNOWN__	hg19	1	33187046	33187046	+	RNA	SNP	C	C	T			__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	NA	NA	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	g.chr1:33187046C>T	ENST00000421619.1	-			c.e2+3477G>A									__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__								__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__		CAGCCCTCATCTCTTTTTACC	0.5660847880299252	__UNKNOWN__	__UNKNOWN__								__UNKNOWN__	__UNKNOWN__	__UNKNOWN__																																																											false	false		false	false			false	false	false		false	false	false	false	false	false	false	false	false	false	false	false	false	false	false	false	false	false	false	false	false	false		false		false		false	false	false				false					false																																														
 RNF19B		__UNKNOWN__	hg19	1	33402442	33402443	+	Frame_Shift_Del	DEL	C	C	-			__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	NA	NA	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	g.chr1:33402442delC	ENST00000373456.7	-	9	2165	c.2164delG	c.(2164-2166)gtcfs	p.V722fs	RNF19B_ENST00000235150.4_Frame_Shift_Del_p.V721fs|RNF19B_ENST00000356990.5_3'UTR						__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__								__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__		GGCTTCAAGACAGTTTGTCCC	0.4912718204488778	__UNKNOWN__	__UNKNOWN__								__UNKNOWN__	__UNKNOWN__	__UNKNOWN__																																																											false	false		false	false			false	false	false		false	false	false	false	false	false	false	false	false	false	false	false	false	false	false	false	false	false	false	false	false	false		false		false		false	false	false				false					false																																														
 RP1-117O3.2		__UNKNOWN__	hg19	1	33472942	33472942	+	RNA	SNP	A	A	G			__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	NA	NA	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	g.chr1:33472942A>G	ENST00000427524.1	+			c.e1+20022A>G									__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__								__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__		TCTAAACCCAAAGCTGCTGCA	0.5261845386533666	__UNKNOWN__	__UNKNOWN__								__UNKNOWN__	__UNKNOWN__	__UNKNOWN__																																																											false	false		false	false			false	false	false		false	false	false	false	false	false	false	false	false	false	false	false	false	false	false	false	false	false	false	false	false	false		false		false		false	false	false				false					false																																														
 RP1-34M23.5		__UNKNOWN__	hg19	1	35239992	35239992	+	RNA	SNP	T	T	C			__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	NA	NA	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	g.chr1:35239992T>C	ENST00000542839.1	-			c.e2+12516A>G									__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__								__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__		TGATGCCCTATACTCTTGCAG	0.543640897755611	__UNKNOWN__	__UNKNOWN__								__UNKNOWN__	__UNKNOWN__	__UNKNOWN__																																																											false	false		false	false			false	false	false		false	false	false	false	false	false	false	false	false	false	false	false	false	false	false	false	false	false	false	false	false	false		false		false		false	false	false				false					false																																														
-RP1-34M23.5		__UNKNOWN__	hg19	1	35246297	35246297	+	RNA	SNP	A	A	G			__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	NA	NA	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	g.chr1:35246297A>G	ENST00000542839.1	-			c.e1-7292T>C									__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__								__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__		AGGCTGGGGCACTGCAGGCTT	0.4763092269326683	__UNKNOWN__	__UNKNOWN__								__UNKNOWN__	__UNKNOWN__	__UNKNOWN__																																																											false	false		false	false			false	false	false		false	false	false	false	false	false	false	false	false	false	false	false	false	false	false	false	false	false	false	false	false	false		false		false		false	false	false				false					false																																														
+GJB3		__UNKNOWN__	hg19	1	35246297	35246297	+	5'Flank	SNP	A	A	G			__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	NA	NA	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	g.chr1:35246297A>G	ENST00000373362.3	+						GJB3_ENST00000373366.2_5'Flank|RP1-34M23.5_ENST00000542839.1_RNA|AL121988.1_ENST00000401343.1_5'Flank						__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__								__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__		AGGCTGGGGCACTGCAGGCTT	0.4763092269326683	__UNKNOWN__	__UNKNOWN__								__UNKNOWN__	__UNKNOWN__	__UNKNOWN__																																																											false	false		false	false			false	false	false		false	false	false	false	false	false	false	false	false	false	false	false	false	false	false	false	false	false	false	false	false	false		false		false		false	false	false				false					false																																														
 RP1-34M23.5		__UNKNOWN__	hg19	1	35253376	35253376	+	RNA	SNP	C	C	T			__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	NA	NA	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	g.chr1:35253376C>T	ENST00000542839.1	-			c.e1-213G>A									__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__								__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__		ACAGGGAATACGGTCAGCATG	0.5386533665835411	__UNKNOWN__	__UNKNOWN__								__UNKNOWN__	__UNKNOWN__	__UNKNOWN__																																																											false	false		false	false			false	false	false		false	false	false	false	false	false	false	false	false	false	false	false	false	false	false	false	false	false	false	false	false	false		false		false		false	false	false				false					false																																														
 RP11-244H3.1		__UNKNOWN__	hg19	1	35444037	35444037	+	RNA	SNP	T	T	C			__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	NA	NA	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	g.chr1:35444037T>C	ENST00000417456.1	-			c.e2+1034A>G									__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__								__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__		TCTGGGCATATTCCTACCCTC	0.4513715710723192	__UNKNOWN__	__UNKNOWN__								__UNKNOWN__	__UNKNOWN__	__UNKNOWN__																																																											false	false		false	false			false	false	false		false	false	false	false	false	false	false	false	false	false	false	false	false	false	false	false	false	false	false	false	false	false		false		false		false	false	false				false					false																																														
-ZMYM6		__UNKNOWN__	hg19	1	35497529	35497529	+	5'UTR	SNP	G	G	A			__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	NA	NA	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	g.chr1:35497529G>A	ENST00000357182.4	-	1					ZMYM6_ENST00000373340.2_5'UTR|ZMYM6_ENST00000317538.5_5'Flank|ZMYM6_ENST00000373333.1_5'Flank|ZMYM6_ENST00000493328.1_5'Flank						__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__								__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__		CCAACGCAACGACCGGCCAAC	0.5685785536159601	__UNKNOWN__	__UNKNOWN__								__UNKNOWN__	__UNKNOWN__	__UNKNOWN__																																																											false	false		false	false			false	false	false		false	false	false	false	false	false	false	false	false	false	false	false	false	false	false	false	false	false	false	false	false	false		false		false		false	false	false				false					false																																														
+ZMYM6		__UNKNOWN__	hg19	1	35497529	35497529	+	5'UTR	SNP	G	G	A			__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	NA	NA	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	g.chr1:35497529G>A	ENST00000357182.4	-	1					ZMYM6_ENST00000373340.2_5'UTR|ZMYM6_ENST00000317538.5_5'Flank|ZMYM6_ENST00000373333.1_5'Flank|ZMYM6_ENST00000487874.1_5'Flank|ZMYM6_ENST00000493328.1_5'Flank						__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__								__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__		CCAACGCAACGACCGGCCAAC	0.5685785536159601	__UNKNOWN__	__UNKNOWN__								__UNKNOWN__	__UNKNOWN__	__UNKNOWN__																																																											false	false		false	false			false	false	false		false	false	false	false	false	false	false	false	false	false	false	false	false	false	false	false	false	false	false	false	false	false		false		false		false	false	false				false					false																																														
 ZMYM4		__UNKNOWN__	hg19	1	35854643	35854644	+	Frame_Shift_Del	DEL	G	G	-			__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	NA	NA	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	g.chr1:35854643delG	ENST00000314607.6	+	14	2475	c.2396delG	c.(2395-2397)tgtfs	p.C799fs	ZMYM4_ENST00000373297.2_Frame_Shift_Del_p.C710fs						__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__								__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__		GAGTTCTGTTGTGAAGAATGC	0.29925187032418954	__UNKNOWN__	__UNKNOWN__								__UNKNOWN__	__UNKNOWN__	__UNKNOWN__																																																											false	false		false	false			false	false	false		false	false	false	false	false	false	false	false	false	false	false	false	false	false	false	false	false	false	false	false	false	false		false		false		false	false	false				false					false																																														
 AGO4		__UNKNOWN__	hg19	1	36291075	36291076	+	Frame_Shift_Del	DEL	A	A	-			__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	NA	NA	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	g.chr1:36291075delA	ENST00000373210.3	+	4	712	c.468delA	c.(466-468)acafs	p.R157fs							__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__								__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__		ATGTTATCACAAGACACCTTC	0.3915211970074813	__UNKNOWN__	__UNKNOWN__								__UNKNOWN__	__UNKNOWN__	__UNKNOWN__																																																											false	false		false	false			false	false	false		false	false	false	false	false	false	false	false	false	false	false	false	false	false	false	false	false	false	false	false	false	false		false		false		false	false	false				false					false																																														
 ADPRHL2		__UNKNOWN__	hg19	1	36558985	36558985	+	Nonstop_Mutation	SNP	T	T	G	183554661	byFrequency;by1000genomes	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	NA	NA	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	g.chr1:36558985T>G	ENST00000373178.4	+	6	1120	c.1090T>G	c.(1090-1092)Tga>Gga	p.*364G							__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__								__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__		CCAGAAGAGTTGATGAGGGCT	0.571072319201995	__UNKNOWN__	__UNKNOWN__								__UNKNOWN__	__UNKNOWN__	__UNKNOWN__																																																											true	false	0.9998,0.0001997	false	false	0		false	false	false	ADPRHL2:54936	false	true	false	true	true	false	false	false	false	false	false	false	false	false	false	false	false	false	false	true	false	false	0	false	0	false	0.999966,3.4343e-005	false	false	false	SNV	0x050000000205040436000100	1	false	135	rs183554661		36558985	true																																														
 RP11-268J15.5		__UNKNOWN__	hg19	1	36789546	36789546	+	5'UTR	SNP	A	A	G			__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	NA	NA	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	g.chr1:36789546A>G	ENST00000373137.2	+	1					EVA1B_ENST00000270824.1_5'UTR|EVA1B_ENST00000490466.1_5'Flank|SH3D21_ENST00000474766.1_Intron						__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__								__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__		CGCAGATCAAATAAACGGAGT	0.5935162094763092	__UNKNOWN__	__UNKNOWN__								__UNKNOWN__	__UNKNOWN__	__UNKNOWN__																																																											false	false		false	false			false	false	false		false	false	false	false	false	false	false	false	false	false	false	false	false	false	false	false	false	false	false	false	false	false		false		false		false	false	false				false					false																																														
 MRPS15		__UNKNOWN__	hg19	1	36929988	36929988	+	5'UTR	SNP	T	T	C			__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	NA	NA	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	g.chr1:36929988T>C	ENST00000373116.5	-	1					MRPS15_ENST00000488606.1_5'Flank						__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__								__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__		ATCGAGGCAGTTGCAATACCG	0.6384039900249376	__UNKNOWN__	__UNKNOWN__								__UNKNOWN__	__UNKNOWN__	__UNKNOWN__																																																											false	false		false	false			false	false	false		false	false	false	false	false	false	false	false	false	false	false	false	false	false	false	false	false	false	false	false	false	false		false		false		false	false	false				false					false																																														
 RP11-422J8.1		__UNKNOWN__	hg19	1	37922859	37922859	+	RNA	SNP	C	C	T			__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	NA	NA	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	g.chr1:37922859C>T	ENST00000424989.1	-			c.e2+799G>A									__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__								__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__		TCATCTCATCCGCTTTAGGGG	0.46384039900249374	__UNKNOWN__	__UNKNOWN__								__UNKNOWN__	__UNKNOWN__	__UNKNOWN__																																																											false	false		false	false			false	false	false		false	false	false	false	false	false	false	false	false	false	false	false	false	false	false	false	false	false	false	false	false	false		false		false		false	false	false				false					false																																														
-RP11-422J8.1		__UNKNOWN__	hg19	1	37939094	37939094	+	RNA	SNP	C	C	T			__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	NA	NA	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	g.chr1:37939094C>T	ENST00000424989.1	-			c.e1-651G>A									__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__								__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__		TCTGTGTTTTCTCTCTCTCTC	0.44139650872817954	__UNKNOWN__	__UNKNOWN__								__UNKNOWN__	__UNKNOWN__	__UNKNOWN__																																																											false	false		false	false			false	false	false		false	false	false	false	false	false	false	false	false	false	false	false	false	false	false	false	false	false	false	false	false	false		false		false		false	false	false				false					false																																														
-RP11-422J8.1		__UNKNOWN__	hg19	1	37939173	37939173	+	RNA	SNP	T	T	C			__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	NA	NA	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	g.chr1:37939173T>C	ENST00000424989.1	-			c.e1-572A>G									__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__								__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__		CTGCCCTCAGTCACTCGTGGT	0.49625935162094764	__UNKNOWN__	__UNKNOWN__								__UNKNOWN__	__UNKNOWN__	__UNKNOWN__																																																											false	false		false	false			false	false	false		false	false	false	false	false	false	false	false	false	false	false	false	false	false	false	false	false	false	false	false	false	false		false		false		false	false	false				false					false																																														
-SF3A3		__UNKNOWN__	hg19	1	38456106	38456106	+	5'UTR	SNP	G	G	A			__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	NA	NA	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	g.chr1:38456106G>A	ENST00000373019.4	-	1					SF3A3_ENST00000448721.2_5'Flank|SF3A3_ENST00000489537.1_5'Flank						__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__								__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__		AGGAAAATGGGAATAGTGGGG	0.5386533665835411	__UNKNOWN__	__UNKNOWN__								__UNKNOWN__	__UNKNOWN__	__UNKNOWN__																																																											false	false		false	false			false	false	false		false	false	false	false	false	false	false	false	false	false	false	false	false	false	false	false	false	false	false	false	false	false		false		false		false	false	false				false					false																																														
+ZC3H12A		__UNKNOWN__	hg19	1	37939094	37939094	+	5'Flank	SNP	C	C	T			__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	NA	NA	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	g.chr1:37939094C>T	ENST00000373087.6	+						RP11-422J8.1_ENST00000424989.1_RNA						__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__								__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__		TCTGTGTTTTCTCTCTCTCTC	0.44139650872817954	__UNKNOWN__	__UNKNOWN__								__UNKNOWN__	__UNKNOWN__	__UNKNOWN__																																																											false	false		false	false			false	false	false		false	false	false	false	false	false	false	false	false	false	false	false	false	false	false	false	false	false	false	false	false	false		false		false		false	false	false				false					false																																														
+ZC3H12A		__UNKNOWN__	hg19	1	37939173	37939173	+	5'Flank	SNP	T	T	C			__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	NA	NA	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	g.chr1:37939173T>C	ENST00000373087.6	+						RP11-422J8.1_ENST00000424989.1_RNA						__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__								__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__		CTGCCCTCAGTCACTCGTGGT	0.49625935162094764	__UNKNOWN__	__UNKNOWN__								__UNKNOWN__	__UNKNOWN__	__UNKNOWN__																																																											false	false		false	false			false	false	false		false	false	false	false	false	false	false	false	false	false	false	false	false	false	false	false	false	false	false	false	false	false		false		false		false	false	false				false					false																																														
+SF3A3		__UNKNOWN__	hg19	1	38456106	38456106	+	5'UTR	SNP	G	G	A			__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	NA	NA	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	g.chr1:38456106G>A	ENST00000373019.4	-	1					SF3A3_ENST00000448721.2_5'Flank|SF3A3_ENST00000489537.1_5'Flank|RNU6-510P_ENST00000391239.1_5'Flank						__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__								__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__		AGGAAAATGGGAATAGTGGGG	0.5386533665835411	__UNKNOWN__	__UNKNOWN__								__UNKNOWN__	__UNKNOWN__	__UNKNOWN__																																																											false	false		false	false			false	false	false		false	false	false	false	false	false	false	false	false	false	false	false	false	false	false	false	false	false	false	false	false	false		false		false		false	false	false				false					false																																														
 RRAGC		__UNKNOWN__	hg19	1	39305316	39305317	+	Frame_Shift_Del	DEL	C	C	-			__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	NA	NA	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	g.chr1:39305316delC	ENST00000373001.3	-	7	1287	c.1109delG	c.(1108-1110)ggtfs	p.G370fs	RRAGC_ENST00000474456.1_Intron						__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__								__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__		AGAAGTCACACCCACCTCAAA	0.4688279301745636	__UNKNOWN__	__UNKNOWN__								__UNKNOWN__	__UNKNOWN__	__UNKNOWN__																																																											false	false		false	false			false	false	false		false	false	false	false	false	false	false	false	false	false	false	false	false	false	false	false	false	false	false	false	false	false		false		false		false	false	false				false					false																																														
-RP5-864K19.4		__UNKNOWN__	hg19	1	39350742	39350742	+	RNA	SNP	C	C	T			__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	NA	NA	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	g.chr1:39350742C>T	ENST00000433671.2	+			c.e2+9052C>T									__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__								__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__		CTATATCTAACTAAGTGTATA	0.32917705735660846	__UNKNOWN__	__UNKNOWN__								__UNKNOWN__	__UNKNOWN__	__UNKNOWN__																																																											false	false		false	false			false	false	false		false	false	false	false	false	false	false	false	false	false	false	false	false	false	false	false	false	false	false	false	false	false		false		false		false	false	false				false					false																																														
+GJA9		__UNKNOWN__	hg19	1	39350742	39350742	+	5'Flank	SNP	C	C	T			__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	NA	NA	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	g.chr1:39350742C>T	ENST00000357771.3	-						GJA9_ENST00000454994.2_5'Flank|MYCBP_ENST00000489803.1_5'Flank|RP5-864K19.4_ENST00000433671.2_RNA						__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__								__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__		CTATATCTAACTAAGTGTATA	0.32917705735660846	__UNKNOWN__	__UNKNOWN__								__UNKNOWN__	__UNKNOWN__	__UNKNOWN__																																																											false	false		false	false			false	false	false		false	false	false	false	false	false	false	false	false	false	false	false	false	false	false	false	false	false	false	false	false	false		false		false		false	false	false				false					false																																														
 MACF1		__UNKNOWN__	hg19	1	39797336	39797337	+	Frame_Shift_Del	DEL	T	T	-			__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	NA	NA	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	g.chr1:39797336delT	ENST00000372915.3	+	36	5177	c.5091delT	c.(5089-5091)tatfs	p.R1699fs	MACF1_ENST00000567887.1_Frame_Shift_Del_p.R1731fs|MACF1_ENST00000564288.1_Frame_Shift_Del_p.R1694fs|MACF1_ENST00000289893.4_Frame_Shift_Del_p.R134fs|MACF1_ENST00000361689.2_Intron|MACF1_ENST00000545844.1_Intron|MACF1_ENST00000317713.7_Intron|MACF1_ENST00000539005.1_Intron|MACF1_ENST00000476350.1_Intron						__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__								__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__		TAGAGTCTTATCTTAGAACAT	0.44139650872817954	__UNKNOWN__	__UNKNOWN__								__UNKNOWN__	__UNKNOWN__	__UNKNOWN__																																																											false	false		false	false			false	false	false		false	false	false	false	false	false	false	false	false	false	false	false	false	false	false	false	false	false	false	false	false	false		false		false		false	false	false				false					false																																														
 MACF1		__UNKNOWN__	hg19	1	39800499	39800500	+	Frame_Shift_Del	DEL	G	G	-			__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	NA	NA	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	g.chr1:39800499delG	ENST00000372915.3	+	36	8340	c.8254delG	c.(8254-8256)gagfs	p.E2752fs	MACF1_ENST00000567887.1_Frame_Shift_Del_p.E2784fs|MACF1_ENST00000564288.1_Frame_Shift_Del_p.E2747fs|MACF1_ENST00000289893.4_Frame_Shift_Del_p.E1187fs|MACF1_ENST00000361689.2_Intron|MACF1_ENST00000545844.1_Intron|MACF1_ENST00000317713.7_Intron|MACF1_ENST00000539005.1_Intron|MACF1_ENST00000476350.1_Intron						__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__								__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__		AGAAGCTATTGAGAAAAGACT	0.38902743142144636	__UNKNOWN__	__UNKNOWN__								__UNKNOWN__	__UNKNOWN__	__UNKNOWN__																																																											false	false		false	false			false	false	false		false	false	false	false	false	false	false	false	false	false	false	false	false	false	false	false	false	false	false	false	false	false		false		false		false	false	false				false					false																																														
 MACF1		__UNKNOWN__	hg19	1	39806578	39806579	+	Frame_Shift_Del	DEL	A	A	-			__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	NA	NA	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	g.chr1:39806578delA	ENST00000372915.3	+	39	10635	c.10549delA	c.(10549-10551)agtfs	p.S3517fs	MACF1_ENST00000567887.1_Frame_Shift_Del_p.S3549fs|MACF1_ENST00000564288.1_Frame_Shift_Del_p.S3512fs|MACF1_ENST00000289893.4_Frame_Shift_Del_p.S1952fs|MACF1_ENST00000361689.2_Intron|MACF1_ENST00000545844.1_Intron|MACF1_ENST00000317713.7_Intron|MACF1_ENST00000539005.1_Intron|MACF1_ENST00000476350.1_Intron						__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__								__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__		GGGATCTAACAGTGAAATAGA	0.3915211970074813	__UNKNOWN__	__UNKNOWN__								__UNKNOWN__	__UNKNOWN__	__UNKNOWN__																																																											false	false		false	false			false	false	false		false	false	false	false	false	false	false	false	false	false	false	false	false	false	false	false	false	false	false	false	false	false		false		false		false	false	false				false					false																																														
@@ -1171,7 +1171,7 @@ PPT1		__UNKNOWN__	hg19	1	40546155	40546155	+	5'UTR	SNP	C	C	T			__UNKNOWN__	__UNK
 PPT1		__UNKNOWN__	hg19	1	40546155	40546155	+	5'UTR	SNP	C	C	T			__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	NA	NA	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	g.chr1:40546155C>T	ENST00000530076.1	-	2					PPT1_ENST00000433473.3_Missense_Mutation_p.V181M|PPT1_ENST00000449045.2_Missense_Mutation_p.V78M|PPT1_ENST00000372775.2_5'Flank						__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__								__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__		TCGGCTTGCACGAGGCTGTAG	0.5012468827930174	__UNKNOWN__	__UNKNOWN__								__UNKNOWN__	__UNKNOWN__	__UNKNOWN__																																																											false	false		false	false			false	false	false		false	false	false	false	false	false	false	false	false	false	false	false	false	false	false	false	false	false	false	false	false	false		false		false		false	false	false				false					false																																														
 PPT1		__UNKNOWN__	hg19	1	40547950	40547950	+	5'UTR	SNP	C	C	T			__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	NA	NA	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	g.chr1:40547950C>T	ENST00000530076.1	-	1					PPT1_ENST00000433473.3_Intron|PPT1_ENST00000449045.2_Intron|PPT1_ENST00000372775.2_5'Flank						__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__								__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__		ACAGAGCCAGCTACGTCAGAG	0.4513715710723192	__UNKNOWN__	__UNKNOWN__								__UNKNOWN__	__UNKNOWN__	__UNKNOWN__																																																											false	false		false	false			false	false	false		false	false	false	false	false	false	false	false	false	false	false	false	false	false	false	false	false	false	false	false	false	false		false		false		false	false	false				false					false																																														
 TMCO2		__UNKNOWN__	hg19	1	40717197	40717198	+	Frame_Shift_Del	DEL	T	T	-			__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	NA	NA	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	g.chr1:40717197delT	ENST00000372766.3	+	2	572	c.480delT	c.(478-480)tctfs	p.E161fs	TMCO2_ENST00000468258.1_Intron						__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__								__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__		ATTGCTCCTCTGAGCCCTACT	0.43640897755610975	__UNKNOWN__	__UNKNOWN__								__UNKNOWN__	__UNKNOWN__	__UNKNOWN__																																																											false	false		false	false			false	false	false		false	false	false	false	false	false	false	false	false	false	false	false	false	false	false	false	false	false	false	false	false	false		false		false		false	false	false				false					false																																														
-RP1-39G22.7		__UNKNOWN__	hg19	1	40722795	40722795	+	RNA	SNP	G	G	A			__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	NA	NA	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	g.chr1:40722795G>A	ENST00000567508.1	-			c.e1+696C>T									__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__								__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__		GCAGGGTTGAGAAATTCAAGA	0.3092269326683292	__UNKNOWN__	__UNKNOWN__								__UNKNOWN__	__UNKNOWN__	__UNKNOWN__																																																											false	false		false	false			false	false	false		false	false	false	false	false	false	false	false	false	false	false	false	false	false	false	false	false	false	false	false	false	false		false		false		false	false	false				false					false																																														
+ZMPSTE24		__UNKNOWN__	hg19	1	40722795	40722795	+	5'Flank	SNP	G	G	A			__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	NA	NA	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	g.chr1:40722795G>A	ENST00000372759.3	+						ZMPSTE24_ENST00000479131.1_5'Flank|RP1-39G22.7_ENST00000567508.1_RNA						__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__								__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__		GCAGGGTTGAGAAATTCAAGA	0.3092269326683292	__UNKNOWN__	__UNKNOWN__								__UNKNOWN__	__UNKNOWN__	__UNKNOWN__																																																											false	false		false	false			false	false	false		false	false	false	false	false	false	false	false	false	false	false	false	false	false	false	false	false	false	false	false	false	false		false		false		false	false	false				false					false																																														
 RP1-228H13.5		__UNKNOWN__	hg19	1	40930624	40930624	+	RNA	SNP	A	A	G			__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	NA	NA	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	g.chr1:40930624A>G	ENST00000565390.1	+			c.e1+633A>G									__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__								__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__		CCTTGGCACTACCAATATTTT	0.43640897755610975	__UNKNOWN__	__UNKNOWN__								__UNKNOWN__	__UNKNOWN__	__UNKNOWN__																																																											false	false		false	false			false	false	false		false	false	false	false	false	false	false	false	false	false	false	false	false	false	false	false	false	false	false	false	false	false		false		false		false	false	false				false					false																																														
 ZFP69		__UNKNOWN__	hg19	1	40961345	40961346	+	Frame_Shift_Del	DEL	A	A	-			__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	NA	NA	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	g.chr1:40961345delA	ENST00000372706.1	+	6	2200	c.1195delA	c.(1195-1197)agtfs	p.S399fs	ZFP69_ENST00000372705.3_Frame_Shift_Del_p.S399fs|RP11-656D10.3_ENST00000450713.1_RNA						__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__								__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__		TAGACACCTTAGTGAACATAT	0.4114713216957606	__UNKNOWN__	__UNKNOWN__								__UNKNOWN__	__UNKNOWN__	__UNKNOWN__																																																											false	false		false	false			false	false	false		false	false	false	false	false	false	false	false	false	false	false	false	false	false	false	false	false	false	false	false	false	false		false		false		false	false	false				false					false																																														
 RP11-656D10.3		__UNKNOWN__	hg19	1	40966167	40966167	+	RNA	SNP	C	C	T			__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	NA	NA	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	g.chr1:40966167C>T	ENST00000450713.1	-			c.e2+6807G>A									__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__								__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__		AGGTCAGGTGCCAACCCTTAA	0.428927680798005	__UNKNOWN__	__UNKNOWN__								__UNKNOWN__	__UNKNOWN__	__UNKNOWN__																																																											false	false		false	false			false	false	false		false	false	false	false	false	false	false	false	false	false	false	false	false	false	false	false	false	false	false	false	false	false		false		false		false	false	false				false					false																																														
@@ -1183,14 +1183,14 @@ CTPS1		__UNKNOWN__	hg19	1	41461697	41461698	+	Frame_Shift_Del	DEL	C	C	-			__UNKN
 HIVEP3		__UNKNOWN__	hg19	1	42094498	42094498	+	5'UTR	SNP	A	A	G			__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	NA	NA	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	g.chr1:42094498A>G	ENST00000372583.1	-	3					HIVEP3_ENST00000247584.5_5'UTR|HIVEP3_ENST00000372584.1_5'UTR|HIVEP3_ENST00000429157.2_5'UTR						__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__								__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__		GTCCACTCCTACGGCAGCCAC	0.5112219451371571	__UNKNOWN__	__UNKNOWN__								__UNKNOWN__	__UNKNOWN__	__UNKNOWN__																																																											false	false		false	false			false	false	false		false	false	false	false	false	false	false	false	false	false	false	false	false	false	false	false	false	false	false	false	false	false		false		false		false	false	false				false					false																																														
 CCDC30		__UNKNOWN__	hg19	1	43004895	43004896	+	Frame_Shift_Del	DEL	A	A	-			__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	NA	NA	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	g.chr1:43004895delA	ENST00000340612.4	+	2	168	c.169delA	c.(169-171)aatfs	p.N57fs	CCDC30_ENST00000507855.1_Intron|CCDC30_ENST00000428554.2_Frame_Shift_Del_p.N57fs|CCDC30_ENST00000342022.4_Frame_Shift_Del_p.N57fs|CCDC30_ENST00000390640.4_5'Flank						__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__								__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__		TGAAGTTCACAATCTTCCAGG	0.30673316708229426	__UNKNOWN__	__UNKNOWN__								__UNKNOWN__	__UNKNOWN__	__UNKNOWN__																																																											false	false		false	false			false	false	false		false	false	false	false	false	false	false	false	false	false	false	false	false	false	false	false	false	false	false	false	false	false		false		false		false	false	false				false					false																																														
 CCDC30		__UNKNOWN__	hg19	1	43021828	43021829	+	Splice_Site	DEL	C	C	-			__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	NA	NA	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	g.chr1:43021828delC	ENST00000340612.4	+	4	426	c.427delC	c.(427-429)cccfs	p.K144fs	CCDC30_ENST00000507855.1_Intron|CCDC30_ENST00000428554.2_Splice_Site_p.K144fs|CCDC30_ENST00000342022.4_Splice_Site_p.K144fs|CCDC30_ENST00000390640.4_Intron						__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__								__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__		TGCACCAAGTCCCAAATTAGG	0.38902743142144636	__UNKNOWN__	__UNKNOWN__								__UNKNOWN__	__UNKNOWN__	__UNKNOWN__						FRAME_SHIFT_DEL																																																					false	false		false	false			false	false	false		false	false	false	false	false	false	false	false	false	false	false	false	false	false	false	false	false	false	false	false	false	false		false		false		false	false	false				false					false																																														
-C1orf50		__UNKNOWN__	hg19	1	43232984	43232984	+	START_CODON_SNP	SNP	T	T	C	200116115	byFrequency;by1000genomes	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	NA	NA	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	g.chr1:43232984T>C	ENST00000372525.5	+	1	45	c.2T>C	c.(1-3)aTg>aCg	p.M1T	C1orf50_ENST00000536543.1_3'UTR|C1orf50_ENST00000468913.2_5'Flank						__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__								__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__		GGCGCTGTCATGGAGGACGCC	0.6957605985037406	__UNKNOWN__	__UNKNOWN__								__UNKNOWN__	__UNKNOWN__	__UNKNOWN__																																																											true	false	0.9996,.,0.0003994	false	false	0		false	false	false	P3H1:64175|C1orf50:79078	false	true	false	true	true	false	false	false	false	false	false	true	false	false	false	false	false	false	true	true	false	false	0	false	0	false	0.999622,0.000171715,0.000206058	false	false	false	SNV	0x050000020a05040436000100	1	false	137	rs200116115		43232984	true																																														
+C1orf50		__UNKNOWN__	hg19	1	43232984	43232984	+	START_CODON_SNP	SNP	T	T	C	200116115	byFrequency;by1000genomes	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	NA	NA	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	g.chr1:43232984T>C	ENST00000372525.5	+	1	45	c.2T>C	c.(1-3)aTg>aCg	p.M1T	C1orf50_ENST00000536543.1_3'UTR|LEPRE1_ENST00000236040.4_5'Flank|LEPRE1_ENST00000296388.5_5'Flank|LEPRE1_ENST00000397054.3_5'Flank|C1orf50_ENST00000468913.2_5'Flank						__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__								__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__		GGCGCTGTCATGGAGGACGCC	0.6957605985037406	__UNKNOWN__	__UNKNOWN__								__UNKNOWN__	__UNKNOWN__	__UNKNOWN__																																																											true	false	0.9996,.,0.0003994	false	false	0		false	false	false	P3H1:64175|C1orf50:79078	false	true	false	true	true	false	false	false	false	false	false	true	false	false	false	false	false	false	true	true	false	false	0	false	0	false	0.999622,0.000171715,0.000206058	false	false	false	SNV	0x050000020a05040436000100	1	false	137	rs200116115		43232984	true																																														
 FAM183A		__UNKNOWN__	hg19	1	43610910	43610910	+	5'UTR	SNP	T	T	G			__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	NA	NA	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	g.chr1:43610910T>G	ENST00000410048.1	+	1					FAM183A_ENST00000335282.4_5'Flank|FAM183A_ENST00000409337.1_5'Flank						__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__								__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__		TGCAGGGCCATTGACAGAGAA	0.47880299251870323	__UNKNOWN__	__UNKNOWN__								__UNKNOWN__	__UNKNOWN__	__UNKNOWN__																																																											false	false		false	false			false	false	false		false	false	false	false	false	false	false	false	false	false	false	false	false	false	false	false	false	false	false	false	false	false		false		false		false	false	false				false					false																																														
 TIE1		__UNKNOWN__	hg19	1	43783610	43783617	+	Frame_Shift_Del	DEL	GGAA	GGAA	-			__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	NA	NA	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	g.chr1:43783610_43783613delGGAA	ENST00000372476.3	+	17	2867_2870	c.2789_2792delGGAA	c.(2788-2793)cggaaafs	p.R930fs	TIE1_ENST00000433781.2_Frame_Shift_Del_p.R575fs|TIE1_ENST00000473014.1_Intron						__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__								__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__		GATTTTCTGCGGAAAAGCCGGGTC	0.5668316831683168	__UNKNOWN__	__UNKNOWN__								__UNKNOWN__	__UNKNOWN__	__UNKNOWN__																																																											false	false		false	false			false	false	false		false	false	false	false	false	false	false	false	false	false	false	false	false	false	false	false	false	false	false	false	false	false		false		false		false	false	false				false					false																																														
-MED8		__UNKNOWN__	hg19	1	43854091	43854091	+	5'UTR	SNP	C	C	G			__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	NA	NA	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	g.chr1:43854091C>G	ENST00000372455.4	-	2					MED8_ENST00000372457.4_Missense_Mutation_p.E5D|MED8_ENST00000290663.6_Missense_Mutation_p.E5D|RP1-92O14.6_ENST00000436713.1_RNA						__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__								__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__		CAAGCTGCTTCTCCTCTCTCT	0.4837905236907731	__UNKNOWN__	__UNKNOWN__								__UNKNOWN__	__UNKNOWN__	__UNKNOWN__																																																											false	false		false	false			false	false	false		false	false	false	false	false	false	false	false	false	false	false	false	false	false	false	false	false	false	false	false	false	false		false		false		false	false	false				false					false																																														
+MED8		__UNKNOWN__	hg19	1	43854091	43854091	+	5'UTR	SNP	C	C	G			__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	NA	NA	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	g.chr1:43854091C>G	ENST00000372455.4	-	2					MED8_ENST00000372457.4_Missense_Mutation_p.E5D|MED8_ENST00000290663.6_Missense_Mutation_p.E5D|SZT2_ENST00000310739.4_5'Flank|SZT2_ENST00000372450.4_5'Flank|SZT2_ENST00000562955.1_5'Flank|RP1-92O14.6_ENST00000436713.1_RNA						__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__								__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__		CAAGCTGCTTCTCCTCTCTCT	0.4837905236907731	__UNKNOWN__	__UNKNOWN__								__UNKNOWN__	__UNKNOWN__	__UNKNOWN__																																																											false	false		false	false			false	false	false		false	false	false	false	false	false	false	false	false	false	false	false	false	false	false	false	false	false	false	false	false	false		false		false		false	false	false				false					false																																														
 B4GALT2		__UNKNOWN__	hg19	1	44445667	44445667	+	5'UTR	SNP	T	T	C			__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	NA	NA	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	g.chr1:44445667T>C	ENST00000356836.6	+	1					B4GALT2_ENST00000372324.1_Intron|B4GALT2_ENST00000434555.2_Intron|B4GALT2_ENST00000309519.7_5'UTR|B4GALT2_ENST00000481924.1_5'Flank						__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__								__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__		GTGTGAGCTGTCTGAGAGTCT	0.6384039900249376	__UNKNOWN__	__UNKNOWN__								__UNKNOWN__	__UNKNOWN__	__UNKNOWN__																																																											false	false		false	false			false	false	false		false	false	false	false	false	false	false	false	false	false	false	false	false	false	false	false	false	false	false	false	false	false		false		false		false	false	false				false					false																																														
 KIF2C		__UNKNOWN__	hg19	1	45205606	45205606	+	START_CODON_SNP	SNP	T	T	A			__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	NA	NA	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	g.chr1:45205606T>A	ENST00000372224.4	+	1	115	c.2T>A	c.(1-3)aTg>aAg	p.M1K	KIF2C_ENST00000372218.4_START_CODON_SNP_p.M1K|KIF2C_ENST00000493027.1_Intron						__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__								__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__		ACTCTCCGAATGGCCATGGAC	0.5835411471321695	__UNKNOWN__	__UNKNOWN__								__UNKNOWN__	__UNKNOWN__	__UNKNOWN__																																																											false	false		false	false			false	false	false		false	false	false	false	false	false	false	false	false	false	false	false	false	false	false	false	false	false	false	false	false	false		false		false		false	false	false				false					false																																														
-RPS8		__UNKNOWN__	hg19	1	45241113	45241113	+	5'UTR	SNP	T	T	C			__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	NA	NA	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	g.chr1:45241113T>C	ENST00000396651.3	+	1					RPS8_ENST00000372209.3_5'Flank|RPS8_ENST00000485390.1_5'Flank|RP11-269F19.2_ENST00000428791.1_RNA						__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__								__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__		GAGACCCTCCTAGGCTCGTGG	0.5985037406483791	__UNKNOWN__	__UNKNOWN__								__UNKNOWN__	__UNKNOWN__	__UNKNOWN__																																																											false	false		false	false			false	false	false		false	false	false	false	false	false	false	false	false	false	false	false	false	false	false	false	false	false	false	false	false	false		false		false		false	false	false				false					false																																														
-UROD		__UNKNOWN__	hg19	1	45477940	45477940	+	START_CODON_SNP	SNP	G	G	A			__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	NA	NA	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	g.chr1:45477940G>A	ENST00000246337.4	+	1	122	c.3G>A	c.(1-3)atG>atA	p.M1I	UROD_ENST00000494399.1_Intron						__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__								__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__		AGCTGACCATGGAAGCGAATG	0.543640897755611	__UNKNOWN__	__UNKNOWN__								__UNKNOWN__	__UNKNOWN__	__UNKNOWN__																																																											false	false		false	false			false	false	false		false	false	false	false	false	false	false	false	false	false	false	false	false	false	false	false	false	false	false	false	false	false		false		false		false	false	false				false					false																																														
+RPS8		__UNKNOWN__	hg19	1	45241113	45241113	+	5'UTR	SNP	T	T	C			__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	NA	NA	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	g.chr1:45241113T>C	ENST00000396651.3	+	1					RPS8_ENST00000372209.3_5'Flank|RPS8_ENST00000485390.1_5'Flank|RP11-269F19.2_ENST00000428791.1_RNA|SNORD46_ENST00000364043.1_5'Flank|SNORD38A_ENST00000365161.1_5'Flank|SNORD38B_ENST00000384690.1_5'Flank|SNORD55_ENST00000581525.1_5'Flank						__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__								__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__		GAGACCCTCCTAGGCTCGTGG	0.5985037406483791	__UNKNOWN__	__UNKNOWN__								__UNKNOWN__	__UNKNOWN__	__UNKNOWN__																																																											false	false		false	false			false	false	false		false	false	false	false	false	false	false	false	false	false	false	false	false	false	false	false	false	false	false	false	false	false		false		false		false	false	false				false					false																																														
+UROD		__UNKNOWN__	hg19	1	45477940	45477940	+	START_CODON_SNP	SNP	G	G	A			__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	NA	NA	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	g.chr1:45477940G>A	ENST00000246337.4	+	1	122	c.3G>A	c.(1-3)atG>atA	p.M1I	HECTD3_ENST00000372168.3_5'Flank|HECTD3_ENST00000372172.4_5'Flank|UROD_ENST00000494399.1_Intron						__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__								__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__		AGCTGACCATGGAAGCGAATG	0.543640897755611	__UNKNOWN__	__UNKNOWN__								__UNKNOWN__	__UNKNOWN__	__UNKNOWN__																																																											false	false		false	false			false	false	false		false	false	false	false	false	false	false	false	false	false	false	false	false	false	false	false	false	false	false	false	false	false		false		false		false	false	false				false					false																																														
 CCDC163P		__UNKNOWN__	hg19	1	45965247	45965262	+	Frame_Shift_Del	DEL	TCCAGCTG	TCCAGCTG	-			__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	NA	NA	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	g.chr1:45965247_45965254delTCCAGCTG	ENST00000432082.1	-	1	401_408	c.28_35delCAGCTGGA	c.(28-36)cagctggatfs	p.Q10fs	CCDC163P_ENST00000488405.2_Frame_Shift_Del_p.Q10fs|CCDC163P_ENST00000490551.3_Frame_Shift_Del_p.Q10fs|MMACHC_ENST00000401061.4_5'Flank|CCDC163P_ENST00000502793.2_5'Flank						__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__								__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__		GAGAAGCACATCCAGCTGCTCAAACCAG	0.5465686274509803	__UNKNOWN__	__UNKNOWN__								__UNKNOWN__	__UNKNOWN__	__UNKNOWN__																																																											false	false		false	false			false	false	false		false	false	false	false	false	false	false	false	false	false	false	false	false	false	false	false	false	false	false	false	false	false		false		false		false	false	false				false					false																																														
 MMACHC		__UNKNOWN__	hg19	1	45974886	45974886	+	Nonstop_Mutation	SNP	G	G	C	201025783	byFrequency;by1000genomes	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	NA	NA	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	g.chr1:45974886G>C	ENST00000401061.4	+	4	1128	c.848G>C	c.(847-849)tGa>tCa	p.*283S	MMACHC_ENST00000477188.1_5'Flank						__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__								__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__		CCTGGCCCTTGATTTTCTCCC	0.5112219451371571	__UNKNOWN__	__UNKNOWN__								__UNKNOWN__	__UNKNOWN__	__UNKNOWN__																																																											true	false		false	false			false	false	false	MMACHC:25974	false	true	false	true	false	false	false	false	false	false	false	false	false	false	false	false	false	false	false	true	false	false	0	false	0	false	0.999244,0.000240401,0.000515145	false	false	false	SNV	0x050000000205040416000100	1	false	137	rs201025783		45974886	true																																														
 AKR1A1		__UNKNOWN__	hg19	1	46032296	46032297	+	Frame_Shift_Del	DEL	C	C	-			__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	NA	NA	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	g.chr1:46032296delC	ENST00000372070.3	+	4	886	c.140delC	c.(139-141)gctfs	p.A47fs	AKR1A1_ENST00000351829.4_Frame_Shift_Del_p.A47fs|AKR1A1_ENST00000471651.1_Frame_Shift_Del_p.A47fs|AKR1A1_ENST00000473038.1_5'Flank						__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__								__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__		ATTGATTGTGCTGCTATCTAC	0.5261845386533666	__UNKNOWN__	__UNKNOWN__								__UNKNOWN__	__UNKNOWN__	__UNKNOWN__																																																											false	false		false	false			false	false	false		false	false	false	false	false	false	false	false	false	false	false	false	false	false	false	false	false	false	false	false	false	false		false		false		false	false	false				false					false																																														
@@ -1202,8 +1202,8 @@ TMEM69		__UNKNOWN__	hg19	1	46153203	46153203	+	5'UTR	SNP	G	G	A			__UNKNOWN__	__U
 TMEM69		__UNKNOWN__	hg19	1	46158965	46158968	+	Frame_Shift_Del	DEL	AT	AT	-			__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	NA	NA	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	g.chr1:46158965_46158966delAT	ENST00000372025.4	+	3	1288_1289	c.132_133delAT	c.(130-135)ccatgtfs	p.C45fs	TMEM69_ENST00000496366.1_Intron						__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__								__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__		ACTTTTCCCCATGTCCAAGGCC	0.4129353233830846	__UNKNOWN__	__UNKNOWN__								__UNKNOWN__	__UNKNOWN__	__UNKNOWN__																																																											false	false		false	false			false	false	false		false	false	false	false	false	false	false	false	false	false	false	false	false	false	false	false	false	false	false	false	false	false		false		false		false	false	false				false					false																																														
 TMEM69		__UNKNOWN__	hg19	1	46159032	46159033	+	Frame_Shift_Del	DEL	T	T	-			__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	NA	NA	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	g.chr1:46159032delT	ENST00000372025.4	+	3	1355	c.199delT	c.(199-201)tccfs	p.S67fs	TMEM69_ENST00000496366.1_Intron						__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__								__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__		CTATCATACATCCCCCTGCAG	0.42144638403990026	__UNKNOWN__	__UNKNOWN__								__UNKNOWN__	__UNKNOWN__	__UNKNOWN__																																																											false	false		false	false			false	false	false		false	false	false	false	false	false	false	false	false	false	false	false	false	false	false	false	false	false	false	false	false	false		false		false		false	false	false				false					false																																														
 PIK3R3		__UNKNOWN__	hg19	1	46543211	46543212	+	Frame_Shift_Del	DEL	T	T	-			__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	NA	NA	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	g.chr1:46543211delT	ENST00000262741.5	-	3	981	c.290delA	c.(289-291)cagfs	p.Q97fs	PIK3R3_ENST00000420542.1_Frame_Shift_Del_p.Q97fs|PIK3R3_ENST00000372006.1_Frame_Shift_Del_p.Q97fs|PIK3R3_ENST00000423209.1_Frame_Shift_Del_p.Q97fs|PIK3R3_ENST00000354242.4_Frame_Shift_Del_p.Q97fs|PIK3R3_ENST00000340332.6_Frame_Shift_Del_p.Q61fs|PIK3R3_ENST00000540385.1_Frame_Shift_Del_p.Q143fs						__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__								__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__		ATAATCTCCCTGCATTTTTGT	0.3516209476309227	__UNKNOWN__	__UNKNOWN__								__UNKNOWN__	__UNKNOWN__	__UNKNOWN__																																																											false	false		false	false			false	false	false		false	false	false	false	false	false	false	false	false	false	false	false	false	false	false	false	false	false	false	false	false	false		false		false		false	false	false				false					false																																														
-PIK3R3		__UNKNOWN__	hg19	1	46598273	46598273	+	5'UTR	SNP	A	A	C			__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	NA	NA	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	g.chr1:46598273A>C	ENST00000262741.5	-	1					PIK3R3_ENST00000420542.1_Intron|PIK3R3_ENST00000372006.1_Intron|PIK3R3_ENST00000423209.1_5'UTR|PIK3R3_ENST00000354242.4_Intron|PIK3R3_ENST00000340332.6_Intron|PIK3R3_ENST00000540385.1_Intron						__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__								__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__		AACCAACCCGACCGCACCAAC	0.6708229426433915	__UNKNOWN__	__UNKNOWN__								__UNKNOWN__	__UNKNOWN__	__UNKNOWN__																																																											false	false		false	false			false	false	false		false	false	false	false	false	false	false	false	false	false	false	false	false	false	false	false	false	false	false	false	false	false		false		false		false	false	false				false					false																																														
-TSPAN1		__UNKNOWN__	hg19	1	46646780	46646780	+	START_CODON_SNP	SNP	A	A	G			__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	NA	NA	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	g.chr1:46646780A>G	ENST00000372003.1	+	3	465	c.1A>G	c.(1-3)Atg>Gtg	p.M1V	PIK3R3_ENST00000540385.1_5'Flank|TSPAN1_ENST00000498443.1_Intron						__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__								__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__		AGGAGCCACCATGCAGTGCTT	0.5187032418952618	__UNKNOWN__	__UNKNOWN__								__UNKNOWN__	__UNKNOWN__	__UNKNOWN__																																																											false	false		false	false			false	false	false		false	false	false	false	false	false	false	false	false	false	false	false	false	false	false	false	false	false	false	false	false	false		false		false		false	false	false				false					false																																														
+PIK3R3		__UNKNOWN__	hg19	1	46598273	46598273	+	5'UTR	SNP	A	A	C			__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	NA	NA	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	g.chr1:46598273A>C	ENST00000262741.5	-	1					PIK3R3_ENST00000420542.1_Intron|PIK3R3_ENST00000372006.1_Intron|PIK3R3_ENST00000423209.1_5'UTR|PIK3R3_ENST00000354242.4_Intron|PIK3R3_ENST00000340332.6_Intron|PIK3R3_ENST00000540385.1_Intron|RP4-533D7.5_ENST00000452785.2_5'Flank						__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__								__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__		AACCAACCCGACCGCACCAAC	0.6708229426433915	__UNKNOWN__	__UNKNOWN__								__UNKNOWN__	__UNKNOWN__	__UNKNOWN__																																																											false	false		false	false			false	false	false		false	false	false	false	false	false	false	false	false	false	false	false	false	false	false	false	false	false	false	false	false	false		false		false		false	false	false				false					false																																														
+TSPAN1		__UNKNOWN__	hg19	1	46646780	46646780	+	START_CODON_SNP	SNP	A	A	G			__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	NA	NA	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	g.chr1:46646780A>G	ENST00000372003.1	+	3	465	c.1A>G	c.(1-3)Atg>Gtg	p.M1V	PIK3R3_ENST00000540385.1_5'Flank|TSPAN1_ENST00000498443.1_Intron|RP11-322N21.2_ENST00000506599.1_5'Flank						__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__								__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__		AGGAGCCACCATGCAGTGCTT	0.5187032418952618	__UNKNOWN__	__UNKNOWN__								__UNKNOWN__	__UNKNOWN__	__UNKNOWN__																																																											false	false		false	false			false	false	false		false	false	false	false	false	false	false	false	false	false	false	false	false	false	false	false	false	false	false	false	false	false		false		false		false	false	false				false					false																																														
 NSUN4		__UNKNOWN__	hg19	1	46826474	46826475	+	Frame_Shift_Del	DEL	G	G	-			__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	NA	NA	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	g.chr1:46826474delG	ENST00000474844.1	+	5	1501	c.852delG	c.(850-852)ttgfs	p.L284fs	NSUN4_ENST00000537428.1_Frame_Shift_Del_p.L235fs|NSUN4_ENST00000536062.1_Frame_Shift_Del_p.L235fs|NSUN4_ENST00000498008.1_Intron						__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__								__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__		GACAGATATTGCCTGTGCTGC	0.4688279301745636	__UNKNOWN__	__UNKNOWN__								__UNKNOWN__	__UNKNOWN__	__UNKNOWN__																																																											false	false		false	false			false	false	false		false	false	false	false	false	false	false	false	false	false	false	false	false	false	false	false	false	false	false	false	false	false		false		false		false	false	false				false					false																																														
 RP5-1109J22.1		__UNKNOWN__	hg19	1	46905802	46905802	+	RNA	SNP	G	G	T			__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	NA	NA	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	g.chr1:46905802G>T	ENST00000429784.2	+			c.e3-536G>T									__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__								__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__		CTGAAGTTGAGATTAGGTTTT	0.5187032418952618	__UNKNOWN__	__UNKNOWN__								__UNKNOWN__	__UNKNOWN__	__UNKNOWN__																																																											false	false		false	false			false	false	false		false	false	false	false	false	false	false	false	false	false	false	false	false	false	false	false	false	false	false	false	false	false		false		false		false	false	false				false					false																																														
 MKNK1-AS1		__UNKNOWN__	hg19	1	47005597	47005597	+	RNA	SNP	C	C	T	75939162	byFrequency;by1000genomes	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	NA	NA	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	g.chr1:47005597C>T	ENST00000602433.1	+			c.e2-1005C>T									__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__								__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__		CCTCTTGGCTCCAGATTCCTG	0.5586034912718204	__UNKNOWN__	__UNKNOWN__								__UNKNOWN__	__UNKNOWN__	__UNKNOWN__																																																											true	false	0.9918,0.008187	false	false	1		false	false	false	MKNK1-AS1:100507423	false	true	true	true	true	false	false	false	false	false	false	false	false	false	false	false	false	false	false	false	false	false	0	true	0	false	0.984271,0.0157291	false	false	false	SNV	0x050100080005040436000100	1	false	132	rs75939162		47005597	true																																														
@@ -1232,9 +1232,9 @@ ORC1		__UNKNOWN__	hg19	1	52859336	52859337	+	Frame_Shift_Del	DEL	A	A	-			__UNKNO
 SELRC1		__UNKNOWN__	hg19	1	53158511	53158538	+	Frame_Shift_Del	DEL	TTCCAAATAGTCCA	TTCCAAATAGTCCA	-			__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	NA	NA	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	g.chr1:53158511_53158524delTTCCAAATAGTCCA	ENST00000371538.3	-	2	176_189	c.122_135delTGGACTATTTGGAA	c.(121-138)gtggactatttggaagggfs	p.V41fs	SELRC1_ENST00000486918.1_Intron						__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__								__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__		TCCGGATCCCTTCCAAATAGTCCACCAGCCGATA	0.5289855072463768	__UNKNOWN__	__UNKNOWN__								__UNKNOWN__	__UNKNOWN__	__UNKNOWN__																																																											false	false		false	false			false	false	false		false	false	false	false	false	false	false	false	false	false	false	false	false	false	false	false	false	false	false	false	false	false		false		false		false	false	false				false					false																																														
 SELRC1		__UNKNOWN__	hg19	1	53163902	53163903	+	Frame_Shift_Del	DEL	C	C	-			__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	NA	NA	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	g.chr1:53163902delC	ENST00000371538.3	-	1	138	c.97delG	c.(97-99)gacfs	p.D33fs	SELRC1_ENST00000486918.1_5'Flank						__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__								__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__		CCGTCCGGGTCCTTCTCGTGG	0.6982543640897756	__UNKNOWN__	__UNKNOWN__								__UNKNOWN__	__UNKNOWN__	__UNKNOWN__																																																											false	false		false	false			false	false	false		false	false	false	false	false	false	false	false	false	false	false	false	false	false	false	false	false	false	false	false	false	false		false		false		false	false	false				false					false																																														
 LRP8		__UNKNOWN__	hg19	1	53741391	53741391	+	5'UTR	SNP	A	A	G			__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	NA	NA	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	g.chr1:53741391A>G	ENST00000465675.1	-	5					LRP8_ENST00000347547.2_Intron|LRP8_ENST00000306052.6_Silent_p.C306C|LRP8_ENST00000371454.2_Silent_p.C306C|LRP8_ENST00000354412.3_Silent_p.C177C						__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__								__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__		TCCCATCCCCACACTGGAACT	0.57356608478803	__UNKNOWN__	__UNKNOWN__								__UNKNOWN__	__UNKNOWN__	__UNKNOWN__																																																											false	false		false	false			false	false	false		false	false	false	false	false	false	false	false	false	false	false	false	false	false	false	false	false	false	false	false	false	false		false		false		false	false	false				false					false																																														
-YIPF1		__UNKNOWN__	hg19	1	54354613	54354613	+	5'UTR	SNP	G	G	A			__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	NA	NA	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	g.chr1:54354613G>A	ENST00000072644.1	-	3					YIPF1_ENST00000371399.1_Intron|YIPF1_ENST00000539954.1_Nonsense_Mutation_p.R25*|YIPF1_ENST00000469457.1_Intron						__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__								__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__		GCTGCCATTCGGCCAGTGAGT	0.38403990024937656	__UNKNOWN__	__UNKNOWN__								__UNKNOWN__	__UNKNOWN__	__UNKNOWN__																																																											false	false		false	false			false	false	false		false	false	false	false	false	false	false	false	false	false	false	false	false	false	false	false	false	false	false	false	false	false		false		false		false	false	false				false					false																																														
-YIPF1		__UNKNOWN__	hg19	1	54354658	54354658	+	5'UTR	SNP	T	T	G			__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	NA	NA	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	g.chr1:54354658T>G	ENST00000072644.1	-	3					YIPF1_ENST00000371399.1_Intron|YIPF1_ENST00000539954.1_Splice_Site_p.T10P|YIPF1_ENST00000469457.1_Splice_Site						__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__								__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__		ATTTGCAGGGTTCTAAAAGAA	0.36658354114713215	__UNKNOWN__	__UNKNOWN__								__UNKNOWN__	__UNKNOWN__	__UNKNOWN__																																																											false	false		false	false			false	false	false		false	false	false	false	false	false	false	false	false	false	false	false	false	false	false	false	false	false	false	false	false	false		false		false		false	false	false				false					false																																														
-YIPF1		__UNKNOWN__	hg19	1	54354658	54354658	+	5'UTR	SNP	T	T	G			__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	NA	NA	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	g.chr1:54354658T>G	ENST00000072644.1	-	3					YIPF1_ENST00000371399.1_Intron|YIPF1_ENST00000539954.1_Splice_Site_p.T10P|YIPF1_ENST00000469457.1_Splice_Site						__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__								__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__		ATTTGCAGGGTTCTAAAAGAA	0.36658354114713215	__UNKNOWN__	__UNKNOWN__								__UNKNOWN__	__UNKNOWN__	__UNKNOWN__																																																											false	false		false	false			false	false	false		false	false	false	false	false	false	false	false	false	false	false	false	false	false	false	false	false	false	false	false	false	false		false		false		false	false	false				false					false																																														
+YIPF1		__UNKNOWN__	hg19	1	54354613	54354613	+	5'UTR	SNP	G	G	A			__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	NA	NA	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	g.chr1:54354613G>A	ENST00000072644.1	-	3					YIPF1_ENST00000371399.1_Intron|YIPF1_ENST00000539954.1_Nonsense_Mutation_p.R25*|DIO1_ENST00000534069.1_5'Flank|YIPF1_ENST00000469457.1_Intron						__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__								__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__		GCTGCCATTCGGCCAGTGAGT	0.38403990024937656	__UNKNOWN__	__UNKNOWN__								__UNKNOWN__	__UNKNOWN__	__UNKNOWN__																																																											false	false		false	false			false	false	false		false	false	false	false	false	false	false	false	false	false	false	false	false	false	false	false	false	false	false	false	false	false		false		false		false	false	false				false					false																																														
+YIPF1		__UNKNOWN__	hg19	1	54354658	54354658	+	5'UTR	SNP	T	T	G			__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	NA	NA	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	g.chr1:54354658T>G	ENST00000072644.1	-	3					YIPF1_ENST00000371399.1_Intron|YIPF1_ENST00000539954.1_Splice_Site_p.T10P|DIO1_ENST00000534069.1_5'Flank|YIPF1_ENST00000469457.1_Splice_Site						__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__								__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__		ATTTGCAGGGTTCTAAAAGAA	0.36658354114713215	__UNKNOWN__	__UNKNOWN__								__UNKNOWN__	__UNKNOWN__	__UNKNOWN__																																																											false	false		false	false			false	false	false		false	false	false	false	false	false	false	false	false	false	false	false	false	false	false	false	false	false	false	false	false	false		false		false		false	false	false				false					false																																														
+YIPF1		__UNKNOWN__	hg19	1	54354658	54354658	+	5'UTR	SNP	T	T	G			__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	NA	NA	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	g.chr1:54354658T>G	ENST00000072644.1	-	3					YIPF1_ENST00000371399.1_Intron|YIPF1_ENST00000539954.1_Splice_Site_p.T10P|DIO1_ENST00000534069.1_5'Flank|YIPF1_ENST00000469457.1_Splice_Site						__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__								__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__		ATTTGCAGGGTTCTAAAAGAA	0.36658354114713215	__UNKNOWN__	__UNKNOWN__								__UNKNOWN__	__UNKNOWN__	__UNKNOWN__																																																											false	false		false	false			false	false	false		false	false	false	false	false	false	false	false	false	false	false	false	false	false	false	false	false	false	false	false	false	false		false		false		false	false	false				false					false																																														
 LRRC42		__UNKNOWN__	hg19	1	54433404	54433405	+	Frame_Shift_Del	DEL	C	C	-			__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	NA	NA	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	g.chr1:54433404delC	ENST00000371370.3	+	9	1599	c.1079delC	c.(1078-1080)tccfs	p.E361fs	LRRC42_ENST00000319223.4_Frame_Shift_Del_p.E361fs|LRRC42_ENST00000477905.1_Splice_Site						__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__								__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__		ATGAACTCTTCCGAGAAACTC	0.46384039900249374	__UNKNOWN__	__UNKNOWN__								__UNKNOWN__	__UNKNOWN__	__UNKNOWN__																																																											false	false		false	false			false	false	false		false	false	false	false	false	false	false	false	false	false	false	false	false	false	false	false	false	false	false	false	false	false		false		false		false	false	false				false					false																																														
 AL357673.1		__UNKNOWN__	hg19	1	54637167	54637167	+	5'UTR	SNP	T	T	C			__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	NA	NA	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	g.chr1:54637167T>C	ENST00000536061.1	-	1					RP11-446E24.4_ENST00000311841.7_Intron|RP11-446E24.4_ENST00000525949.1_Intron						__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__								__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__		GAAGTGACGTTGGTAAACATG	0.5461346633416458	__UNKNOWN__	__UNKNOWN__								__UNKNOWN__	__UNKNOWN__	__UNKNOWN__																																																											false	false		false	false			false	false	false		false	false	false	false	false	false	false	false	false	false	false	false	false	false	false	false	false	false	false	false	false	false		false		false		false	false	false				false					false																																														
 MROH7		__UNKNOWN__	hg19	1	55134546	55134547	+	Frame_Shift_Del	DEL	T	T	-	772326202	byFrequency	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	NA	NA	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	g.chr1:55134546delT	ENST00000421030.2	+	5	1609	c.1325delT	c.(1324-1326)cttfs	p.Q443fs	MROH7_ENST00000395690.2_Frame_Shift_Del_p.Q443fs|MROH7_ENST00000409996.1_Frame_Shift_Del_p.Q11fs|MROH7_ENST00000339553.5_Frame_Shift_Del_p.Q443fs|MROH7_ENST00000545244.1_Frame_Shift_Del_p.Q11fs|MROH7_ENST00000454855.2_5'UTR|MROH7-TTC4_ENST00000414150.2_Frame_Shift_Del_p.Q443fs						__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__								__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__		GTCACCACCCTTCAGAAGAGC	0.5586034912718204	__UNKNOWN__	__UNKNOWN__								__UNKNOWN__	__UNKNOWN__	__UNKNOWN__																																																											true	false		false	false			false	false	false	MROH7:374977|MROH7-TTC4:100527960	false	true	false	false	false	false	false	false	false	false	true	false	false	false	false	false	false	false	false	true	false	false	0	false	0	false	0.999931,6.8686e-005	false	false	true	DIV	0x050000401205040402000200	1	false	144	rs772326202		55134546	true																																														
@@ -1250,19 +1250,19 @@ C1orf87		__UNKNOWN__	hg19	1	60491130	60491131	+	Frame_Shift_Del	DEL	A	A	-			__UN
 C1orf87		__UNKNOWN__	hg19	1	60503685	60503686	+	Frame_Shift_Del	DEL	C	C	-			__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	NA	NA	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	g.chr1:60503685delC	ENST00000371201.3	-	6	951	c.842delG	c.(841-843)agtfs	p.S281fs	C1orf87_ENST00000450089.2_Intron						__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__								__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__		AGTGCCATGACTCTCAGTTTT	0.3790523690773067	__UNKNOWN__	__UNKNOWN__								__UNKNOWN__	__UNKNOWN__	__UNKNOWN__																																																											false	false		false	false			false	false	false		false	false	false	false	false	false	false	false	false	false	false	false	false	false	false	false	false	false	false	false	false	false		false		false		false	false	false				false					false																																														
 INADL		__UNKNOWN__	hg19	1	62235088	62235089	+	Frame_Shift_Del	DEL	C	C	-			__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	NA	NA	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	g.chr1:62235088delC	ENST00000371158.2	+	5	631	c.518delC	c.(517-519)gcafs	p.A173fs	INADL_ENST00000316485.6_Frame_Shift_Del_p.A173fs						__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__								__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__		GGGAGTGTAGCAGACAGGTGA	0.38902743142144636	__UNKNOWN__	__UNKNOWN__								__UNKNOWN__	__UNKNOWN__	__UNKNOWN__																																																											false	false		false	false			false	false	false		false	false	false	false	false	false	false	false	false	false	false	false	false	false	false	false	false	false	false	false	false	false		false		false		false	false	false				false					false																																														
 INADL		__UNKNOWN__	hg19	1	62586958	62586959	+	Frame_Shift_Del	DEL	A	A	-			__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	NA	NA	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	g.chr1:62586958delA	ENST00000371158.2	+	38	5109	c.4996delA	c.(4996-4998)aaafs	p.N1667fs	INADL_ENST00000472512.1_Intron						__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__								__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__		TCCTTCCCAGAAAAATTCAGG	0.42643391521197005	__UNKNOWN__	__UNKNOWN__								__UNKNOWN__	__UNKNOWN__	__UNKNOWN__																																																											false	false		false	false			false	false	false		false	false	false	false	false	false	false	false	false	false	false	false	false	false	false	false	false	false	false	false	false	false		false		false		false	false	false				false					false																																														
-L1TD1		__UNKNOWN__	hg19	1	62672472	62672473	+	Frame_Shift_Del	DEL	T	T	-			__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	NA	NA	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	g.chr1:62672472delT	ENST00000498273.1	+	3	466	c.172delT	c.(172-174)ttafs	p.L58fs							__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__								__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__		GTTTAAGGTCTTAATGGAAAT	0.3516209476309227	__UNKNOWN__	__UNKNOWN__								__UNKNOWN__	__UNKNOWN__	__UNKNOWN__																																																											false	false		false	false			false	false	false		false	false	false	false	false	false	false	false	false	false	false	false	false	false	false	false	false	false	false	false	false	false		false		false		false	false	false				false					false																																														
+L1TD1		__UNKNOWN__	hg19	1	62672472	62672473	+	Frame_Shift_Del	DEL	T	T	-			__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	NA	NA	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	g.chr1:62672472delT	ENST00000498273.1	+	3	466	c.172delT	c.(172-174)ttafs	p.L58fs	Y_RNA_ENST00000363304.1_5'Flank						__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__								__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__		GTTTAAGGTCTTAATGGAAAT	0.3516209476309227	__UNKNOWN__	__UNKNOWN__								__UNKNOWN__	__UNKNOWN__	__UNKNOWN__																																																											false	false		false	false			false	false	false		false	false	false	false	false	false	false	false	false	false	false	false	false	false	false	false	false	false	false	false	false	false		false		false		false	false	false				false					false																																														
 ATG4C		__UNKNOWN__	hg19	1	63282435	63282436	+	Frame_Shift_Del	DEL	A	A	-			__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	NA	NA	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	g.chr1:63282435delA	ENST00000317868.4	+	4	556	c.350delA	c.(349-351)cagfs	p.Q117fs	ATG4C_ENST00000371120.3_Frame_Shift_Del_p.Q117fs						__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__								__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__		AGAACTGGCCAGATGCTCTTG	0.371571072319202	__UNKNOWN__	__UNKNOWN__								__UNKNOWN__	__UNKNOWN__	__UNKNOWN__																																																											false	false		false	false			false	false	false		false	false	false	false	false	false	false	false	false	false	false	false	false	false	false	false	false	false	false	false	false	false		false		false		false	false	false				false					false																																														
 ATG4C		__UNKNOWN__	hg19	1	63300483	63300484	+	Frame_Shift_Del	DEL	A	A	-			__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	NA	NA	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	g.chr1:63300483delA	ENST00000317868.4	+	9	1255	c.1049delA	c.(1048-1050)caafs	p.Q350fs	ATG4C_ENST00000371120.3_Frame_Shift_Del_p.Q350fs						__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__								__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__		CATTACTGCCAATCTTTTGTA	0.3341645885286783	__UNKNOWN__	__UNKNOWN__								__UNKNOWN__	__UNKNOWN__	__UNKNOWN__																																																											false	false		false	false			false	false	false		false	false	false	false	false	false	false	false	false	false	false	false	false	false	false	false	false	false	false	false	false	false		false		false		false	false	false				false					false																																														
 ALG6		__UNKNOWN__	hg19	1	63902554	63902557	+	Frame_Shift_Del	DEL	CC	CC	-			__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	NA	NA	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	g.chr1:63902554_63902555delCC	ENST00000263440.4	+	14	1600_1601	c.1393_1394delCC	c.(1393-1395)cctfs	p.P465fs	ALG6_ENST00000371108.4_Frame_Shift_Del_p.P463fs|ALG6_ENST00000494765.1_Intron						__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__								__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__		ACTGGATCCTCCTCAGAAACTA	0.35572139303482586	__UNKNOWN__	__UNKNOWN__								__UNKNOWN__	__UNKNOWN__	__UNKNOWN__																																																											false	false		false	false			false	false	false		false	false	false	false	false	false	false	false	false	false	false	false	false	false	false	false	false	false	false	false	false	false		false		false		false	false	false				false					false																																														
-EFCAB7		__UNKNOWN__	hg19	1	63999794	63999797	+	Frame_Shift_Del	DEL	AA	AA	-			__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	NA	NA	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	g.chr1:63999794_63999795delAA	ENST00000371088.4	+	6	956_957	c.711_712delAA	c.(709-714)gcaaccfs	p.T238fs							__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__								__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__		TACTGTCAGCAACCAGGAAGTT	0.32587064676616917	__UNKNOWN__	__UNKNOWN__								__UNKNOWN__	__UNKNOWN__	__UNKNOWN__																																																											false	false		false	false			false	false	false		false	false	false	false	false	false	false	false	false	false	false	false	false	false	false	false	false	false	false	false	false	false		false		false		false	false	false				false					false																																														
+EFCAB7		__UNKNOWN__	hg19	1	63999794	63999797	+	Frame_Shift_Del	DEL	AA	AA	-			__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	NA	NA	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	g.chr1:63999794_63999795delAA	ENST00000371088.4	+	6	956_957	c.711_712delAA	c.(709-714)gcaaccfs	p.T238fs	RN7SL488P_ENST00000585186.1_5'Flank						__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__								__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__		TACTGTCAGCAACCAGGAAGTT	0.32587064676616917	__UNKNOWN__	__UNKNOWN__								__UNKNOWN__	__UNKNOWN__	__UNKNOWN__																																																											false	false		false	false			false	false	false		false	false	false	false	false	false	false	false	false	false	false	false	false	false	false	false	false	false	false	false	false	false		false		false		false	false	false				false					false																																														
 UBE2U		__UNKNOWN__	hg19	1	64669795	64669804	+	Splice_Site	DEL	ATAAG	ATAAG	-			__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	NA	NA	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	g.chr1:64669795_64669799delATAAG	ENST00000371076.3	+	1	305_309	c.62_66delATAAG	c.(61-66)tataagfs	p.Y21fs							__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__								__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__		GAGAACAATTATAAGGTAAGTACTG	0.3654320987654321	__UNKNOWN__	__UNKNOWN__								__UNKNOWN__	__UNKNOWN__	__UNKNOWN__						FRAME_SHIFT_DEL																																																					false	false		false	false			false	false	false		false	false	false	false	false	false	false	false	false	false	false	false	false	false	false	false	false	false	false	false	false	false		false		false		false	false	false				false					false																																														
 UBE2U		__UNKNOWN__	hg19	1	64676468	64676469	+	Frame_Shift_Del	DEL	C	C	-			__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	NA	NA	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	g.chr1:64676468delC	ENST00000371076.3	+	4	528	c.285delC	c.(283-285)aacfs	p.P96fs	UBE2U_ENST00000464349.1_5'Flank						__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__								__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__		TTTTGGACAACCCTGAGAAGT	0.30423940149625933	__UNKNOWN__	__UNKNOWN__								__UNKNOWN__	__UNKNOWN__	__UNKNOWN__																																																											false	false		false	false			false	false	false		false	false	false	false	false	false	false	false	false	false	false	false	false	false	false	false	false	false	false	false	false	false		false		false		false	false	false				false					false																																														
-WDR78		__UNKNOWN__	hg19	1	67288063	67288064	+	Frame_Shift_Ins	INS	-	-	CT	754415129		__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	NA	NA	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	g.chr1:67288063_67288064insCT	ENST00000371026.3	-	16	2533	c.2476_2477insAG	c.(2476-2478)actfs	p.T826fs	WDR78_ENST00000431318.1_Frame_Shift_Ins_p.T539fs						__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__								__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__		TCCAAAACAGTAGGCATATT	0.3275	__UNKNOWN__	__UNKNOWN__								__UNKNOWN__	__UNKNOWN__	__UNKNOWN__																																																											true	false		false	false			false	false	false	WDR78:79819	false	true	false	false	false	false	false	false	false	false	true	false	false	false	false	false	false	false	false	true	false	false	0	false	0	false		false	false	false	DIV	0x050000001205000402000200	1	false	144	rs754415129		67288063	false																																														
+WDR78		__UNKNOWN__	hg19	1	67288063	67288064	+	Frame_Shift_Ins	INS	-	-	CT	754415129		__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	NA	NA	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	g.chr1:67288063_67288064insCT	ENST00000371026.3	-	16	2533	c.2476_2477insAG	c.(2476-2478)actfs	p.T826fs	WDR78_ENST00000431318.1_Frame_Shift_Ins_p.T539fs|RP11-342H21.2_ENST00000456389.1_5'Flank						__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__								__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__		TCCAAAACAGTAGGCATATT	0.3275	__UNKNOWN__	__UNKNOWN__								__UNKNOWN__	__UNKNOWN__	__UNKNOWN__																																																											true	false		false	false			false	false	false	WDR78:79819	false	true	false	false	false	false	false	false	false	false	true	false	false	false	false	false	false	false	false	true	false	false	0	false	0	false		false	false	false	DIV	0x050000001205000402000200	1	false	144	rs754415129		67288063	false																																														
 SLC35D1		__UNKNOWN__	hg19	1	67474835	67474838	+	Frame_Shift_Del	DEL	AA	AA	-			__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	NA	NA	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	g.chr1:67474835_67474836delAA	ENST00000235345.5	-	11	979_980	c.891_892delTT	c.(889-891)actfs	p.I299fs	SLC35D1_ENST00000506472.2_Frame_Shift_Del_p.I220fs						__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__								__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__		ATTCCAATATAAGTTATTAATA	0.26616915422885573	__UNKNOWN__	__UNKNOWN__								__UNKNOWN__	__UNKNOWN__	__UNKNOWN__																																																											false	false		false	false			false	false	false		false	false	false	false	false	false	false	false	false	false	false	false	false	false	false	false	false	false	false	false	false	false		false		false		false	false	false				false					false																																														
 IL12RB2		__UNKNOWN__	hg19	1	67773351	67773351	+	DE_NOVO_START_OUT_FRAME	SNP	C	C	T	12142823	byFrequency;by1000genomes	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	NA	NA	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	g.chr1:67773351C>T	ENST00000262345.1	+	1					IL12RB2_ENST00000371000.1_DE_NOVO_START_OUT_FRAME|IL12RB2_ENST00000541374.1_5'Flank|IL12RB2_ENST00000544434.1_5'Flank						__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__								__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__		GTGGAAACCACGGGCGCCCGC	0.6633416458852868	__UNKNOWN__	__UNKNOWN__								__UNKNOWN__	__UNKNOWN__	__UNKNOWN__																																																											true	false	0.8325,.,0.1675	false	false	1		false	true	true	IL12RB2:3595	true	true	false	true	true	false	false	false	false	false	false	false	false	false	false	false	false	false	true	false	false	false	0	true	0	false	0.85727,6.8686e-005,0.142661	false	false	true	SNV	0x05010042000517053e000100	1	false	120	rs12142823		67773351	true																																														
 WLS		__UNKNOWN__	hg19	1	68564374	68564375	+	Frame_Shift_Del	DEL	C	C	-			__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	NA	NA	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	g.chr1:68564374delC	ENST00000354777.2	-	12	1820	c.1573delG	c.(1573-1575)gaafs	p.E525fs	WLS_ENST00000540432.1_Frame_Shift_Del_p.E527fs|GNG12-AS1_ENST00000420587.1_RNA|GNG12-AS1_ENST00000413628.1_RNA						__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__								__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__		CTGAACAATTCTTGATAAAGT	0.3341645885286783	__UNKNOWN__	__UNKNOWN__								__UNKNOWN__	__UNKNOWN__	__UNKNOWN__																																																											false	false		false	false			false	false	false		false	false	false	false	false	false	false	false	false	false	false	false	false	false	false	false	false	false	false	false	false	false		false		false		false	false	false				false					false																																														
 WLS		__UNKNOWN__	hg19	1	68564393	68564394	+	Frame_Shift_Del	DEL	A	A	-			__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	NA	NA	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	g.chr1:68564393delA	ENST00000354777.2	-	12	1801	c.1554delT	c.(1552-1554)tttfs	p.F518fs	WLS_ENST00000540432.1_Frame_Shift_Del_p.F520fs|GNG12-AS1_ENST00000420587.1_RNA|GNG12-AS1_ENST00000413628.1_RNA						__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__								__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__		GTTCCGAAACAAACAAAGCAC	0.33915211970074816	__UNKNOWN__	__UNKNOWN__								__UNKNOWN__	__UNKNOWN__	__UNKNOWN__																																																											false	false		false	false			false	false	false		false	false	false	false	false	false	false	false	false	false	false	false	false	false	false	false	false	false	false	false	false	false		false		false		false	false	false				false					false																																														
-HHLA3		__UNKNOWN__	hg19	1	70820700	70820701	+	Frame_Shift_Del	DEL	C	C	-			__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	NA	NA	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	g.chr1:70820700delC	ENST00000359875.5	+	1	205	c.66delC	c.(64-66)tgcfs	p.C22fs	HHLA3_ENST00000370940.5_Frame_Shift_Del_p.C22fs|HHLA3_ENST00000361764.4_Frame_Shift_Del_p.C22fs|HHLA3_ENST00000531950.1_Frame_Shift_Del_p.C22fs|HHLA3_ENST00000432224.1_Frame_Shift_Del_p.C22fs|HHLA3_ENST00000486110.1_Intron						__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__								__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__		CAGAGGAATGCAGAATGACGC	0.5586034912718204	__UNKNOWN__	__UNKNOWN__								__UNKNOWN__	__UNKNOWN__	__UNKNOWN__																																																											false	false		false	false			false	false	false		false	false	false	false	false	false	false	false	false	false	false	false	false	false	false	false	false	false	false	false	false	false		false		false		false	false	false				false					false																																														
+HHLA3		__UNKNOWN__	hg19	1	70820700	70820701	+	Frame_Shift_Del	DEL	C	C	-			__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	NA	NA	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	g.chr1:70820700delC	ENST00000359875.5	+	1	205	c.66delC	c.(64-66)tgcfs	p.C22fs	HHLA3_ENST00000370940.5_Frame_Shift_Del_p.C22fs|HHLA3_ENST00000361764.4_Frame_Shift_Del_p.C22fs|HHLA3_ENST00000531950.1_Frame_Shift_Del_p.C22fs|HHLA3_ENST00000432224.1_Frame_Shift_Del_p.C22fs|ANKRD13C_ENST00000262346.6_5'Flank|ANKRD13C_ENST00000370944.4_5'Flank|HHLA3_ENST00000486110.1_Intron						__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__								__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__		CAGAGGAATGCAGAATGACGC	0.5586034912718204	__UNKNOWN__	__UNKNOWN__								__UNKNOWN__	__UNKNOWN__	__UNKNOWN__																																																											false	false		false	false			false	false	false		false	false	false	false	false	false	false	false	false	false	false	false	false	false	false	false	false	false	false	false	false	false		false		false		false	false	false				false					false																																														
 CTH		__UNKNOWN__	hg19	1	70904382	70904383	+	Frame_Shift_Del	DEL	C	C	-			__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	NA	NA	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	g.chr1:70904382delC	ENST00000370938.3	+	11	1207	c.1064delC	c.(1063-1065)actfs	p.T355fs	CTH_ENST00000346806.2_Frame_Shift_Del_p.T311fs|CTH_ENST00000411986.2_Frame_Shift_Del_p.T323fs						__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__								__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__		GCAATCATGACTCATGCATCA	0.38902743142144636	__UNKNOWN__	__UNKNOWN__								__UNKNOWN__	__UNKNOWN__	__UNKNOWN__																																																											false	false		false	false			false	false	false		false	false	false	false	false	false	false	false	false	false	false	false	false	false	false	false	false	false	false	false	false	false		false		false		false	false	false				false					false																																														
 PTGER3		__UNKNOWN__	hg19	1	71418632	71418633	+	Frame_Shift_Del	DEL	G	G	-			__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	NA	NA	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	g.chr1:71418632delG	ENST00000356595.4	-	4	1427	c.1215delC	c.(1213-1215)agcfs	p.S405fs	PTGER3_ENST00000414819.1_3'UTR|PTGER3_ENST00000370931.3_Intron|PTGER3_ENST00000460330.1_Intron|PTGER3_ENST00000370932.2_Intron|PTGER3_ENST00000351052.5_Intron|PTGER3_ENST00000354608.5_Intron						__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__								__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__		ACACATTAATGCTGCTCACGA	0.3740648379052369	__UNKNOWN__	__UNKNOWN__								__UNKNOWN__	__UNKNOWN__	__UNKNOWN__																																																											false	false		false	false			false	false	false		false	false	false	false	false	false	false	false	false	false	false	false	false	false	false	false	false	false	false	false	false	false		false		false		false	false	false				false					false																																														
 LRRIQ3		__UNKNOWN__	hg19	1	74663709	74663709	+	5'UTR	SNP	G	G	A			__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	NA	NA	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	g.chr1:74663709G>A	ENST00000370911.3	-	1					LRRIQ3_ENST00000370909.2_5'UTR|LRRIQ3_ENST00000354431.4_5'UTR|TNNI3K_ENST00000370891.2_5'Flank|FPGT-TNNI3K_ENST00000370893.1_5'Flank|FPGT_ENST00000370894.5_5'Flank|FPGT-TNNI3K_ENST00000370895.1_5'Flank|FPGT_ENST00000370898.3_5'Flank|FPGT-TNNI3K_ENST00000370899.3_5'Flank|FPGT_ENST00000467578.2_5'Flank|FPGT_ENST00000482102.2_5'Flank|FPGT_ENST00000524915.1_5'Flank|FPGT-TNNI3K_ENST00000533006.1_5'Flank|FPGT_ENST00000534056.1_5'Flank|FPGT-TNNI3K_ENST00000557284.2_5'Flank|FPGT_ENST00000609362.1_5'Flank						__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__								__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__		GCCCTTATGAGTTGGAGACAA	0.5635910224438903	__UNKNOWN__	__UNKNOWN__								__UNKNOWN__	__UNKNOWN__	__UNKNOWN__																																																											false	false		false	false			false	false	false		false	false	false	false	false	false	false	false	false	false	false	false	false	false	false	false	false	false	false	false	false	false		false		false		false	false	false				false					false																																														
@@ -1270,8 +1270,8 @@ FPGT-TNNI3K		__UNKNOWN__	hg19	1	74737318	74737327	+	Frame_Shift_Del	DEL	GGAGC	GG
 FPGT-TNNI3K		__UNKNOWN__	hg19	1	74835231	74835234	+	Frame_Shift_Del	DEL	AG	AG	-	748927643		__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	NA	NA	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	g.chr1:74835231_74835232delAG	ENST00000370899.3	+	18	1968_1969	c.1932_1933delAG	c.(1930-1935)tcagggfs	p.G646fs	TNNI3K_ENST00000326637.3_Frame_Shift_Del_p.G545fs|FPGT-TNNI3K_ENST00000557284.2_Frame_Shift_Del_p.G659fs|FPGT-TNNI3K_ENST00000370895.1_Frame_Shift_Del_p.G646fs|TNNI3K_ENST00000370891.2_Frame_Shift_Del_p.G646fs|RP11-439H8.4_ENST00000415549.2_RNA						__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__								__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__		AATACATATCAGGGGGTTCTCT	0.43034825870646765	__UNKNOWN__	__UNKNOWN__								__UNKNOWN__	__UNKNOWN__	__UNKNOWN__																																																											true	false		false	false			false	false	false	TNNI3K:51086|FPGT-TNNI3K:100526835	false	true	false	false	false	false	false	false	false	false	true	false	false	false	false	false	false	false	false	true	false	false	0	false	0	false		false	false	false	DIV	0x050000001205000402000200	1	false	144	rs748927643		74835231	false																																														
 C1orf173		__UNKNOWN__	hg19	1	75036873	75036874	+	Frame_Shift_Del	DEL	T	T	-			__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	NA	NA	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	g.chr1:75036873delT	ENST00000326665.5	-	14	4741	c.4521delA	c.(4519-4521)cgafs	p.E1508fs	C1orf173_ENST00000433746.2_Intron						__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__								__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__		GTTGCTTCTCTCGGGTTTCAG	0.5336658354114713	__UNKNOWN__	__UNKNOWN__								__UNKNOWN__	__UNKNOWN__	__UNKNOWN__																																																											false	false		false	false			false	false	false		false	false	false	false	false	false	false	false	false	false	false	false	false	false	false	false	false	false	false	false	false	false		false		false		false	false	false				false					false																																														
 C1orf173		__UNKNOWN__	hg19	1	75038573	75038574	+	Frame_Shift_Del	DEL	C	C	-			__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	NA	NA	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	g.chr1:75038573delC	ENST00000326665.5	-	14	3041	c.2821delG	c.(2821-2823)gatfs	p.D941fs	C1orf173_ENST00000433746.2_Intron						__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__								__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__		TCTCCGACATCACTCACAGCC	0.5336658354114713	__UNKNOWN__	__UNKNOWN__								__UNKNOWN__	__UNKNOWN__	__UNKNOWN__																																																											false	false		false	false			false	false	false		false	false	false	false	false	false	false	false	false	false	false	false	false	false	false	false	false	false	false	false	false	false		false		false		false	false	false				false					false																																														
-CRYZ		__UNKNOWN__	hg19	1	75198740	75198740	+	5'UTR	SNP	A	A	C			__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	NA	NA	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	g.chr1:75198740A>C	ENST00000417775.1	-	1					CRYZ_ENST00000340866.5_5'Flank|CRYZ_ENST00000370871.3_5'Flank|CRYZ_ENST00000370872.3_5'Flank						__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__								__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__		TCCACCCAGGATGTGCGCCTC	0.5311720698254364	__UNKNOWN__	__UNKNOWN__								__UNKNOWN__	__UNKNOWN__	__UNKNOWN__																																																											false	false		false	false			false	false	false		false	false	false	false	false	false	false	false	false	false	false	false	false	false	false	false	false	false	false	false	false	false		false		false		false	false	false				false					false																																														
-CRYZ		__UNKNOWN__	hg19	1	75198788	75198788	+	5'UTR	SNP	C	C	A			__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	NA	NA	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	g.chr1:75198788C>A	ENST00000417775.1	-	1					CRYZ_ENST00000340866.5_5'Flank|CRYZ_ENST00000370871.3_5'Flank|CRYZ_ENST00000370872.3_5'Flank						__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__								__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__		CACCCCTAGGCGAAGGCACTA	0.5336658354114713	__UNKNOWN__	__UNKNOWN__								__UNKNOWN__	__UNKNOWN__	__UNKNOWN__																																																											false	false		false	false			false	false	false		false	false	false	false	false	false	false	false	false	false	false	false	false	false	false	false	false	false	false	false	false	false		false		false		false	false	false				false					false																																														
+CRYZ		__UNKNOWN__	hg19	1	75198740	75198740	+	5'UTR	SNP	A	A	C			__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	NA	NA	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	g.chr1:75198740A>C	ENST00000417775.1	-	1					CRYZ_ENST00000340866.5_5'Flank|TYW3_ENST00000370867.3_5'Flank|CRYZ_ENST00000370871.3_5'Flank|CRYZ_ENST00000370872.3_5'Flank|TYW3_ENST00000421739.2_5'Flank|TYW3_ENST00000457880.2_5'Flank|TYW3_ENST00000479111.1_5'Flank						__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__								__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__		TCCACCCAGGATGTGCGCCTC	0.5311720698254364	__UNKNOWN__	__UNKNOWN__								__UNKNOWN__	__UNKNOWN__	__UNKNOWN__																																																											false	false		false	false			false	false	false		false	false	false	false	false	false	false	false	false	false	false	false	false	false	false	false	false	false	false	false	false	false		false		false		false	false	false				false					false																																														
+CRYZ		__UNKNOWN__	hg19	1	75198788	75198788	+	5'UTR	SNP	C	C	A			__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	NA	NA	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	g.chr1:75198788C>A	ENST00000417775.1	-	1					CRYZ_ENST00000340866.5_5'Flank|TYW3_ENST00000370867.3_5'Flank|CRYZ_ENST00000370871.3_5'Flank|CRYZ_ENST00000370872.3_5'Flank|TYW3_ENST00000421739.2_5'Flank|TYW3_ENST00000457880.2_5'Flank|TYW3_ENST00000479111.1_5'Flank						__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__								__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__		CACCCCTAGGCGAAGGCACTA	0.5336658354114713	__UNKNOWN__	__UNKNOWN__								__UNKNOWN__	__UNKNOWN__	__UNKNOWN__																																																											false	false		false	false			false	false	false		false	false	false	false	false	false	false	false	false	false	false	false	false	false	false	false	false	false	false	false	false	false		false		false		false	false	false				false					false																																														
 ACADM		__UNKNOWN__	hg19	1	76200514	76200515	+	Frame_Shift_Del	DEL	G	G	-			__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	NA	NA	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	g.chr1:76200514delG	ENST00000370834.5	+	7	603	c.525delG	c.(523-525)aagfs	p.K176fs	ACADM_ENST00000420607.2_Frame_Shift_Del_p.K147fs|ACADM_ENST00000370841.4_Frame_Shift_Del_p.K143fs|ACADM_ENST00000541113.1_Frame_Shift_Del_p.K107fs|ACADM_ENST00000543667.1_Intron						__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__								__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__		ATCAACAAAAGAAGAAGTATT	0.32418952618453867	__UNKNOWN__	__UNKNOWN__								__UNKNOWN__	__UNKNOWN__	__UNKNOWN__																																																											false	false		false	false			false	false	false		false	false	false	false	false	false	false	false	false	false	false	false	false	false	false	false	false	false	false	false	false	false		false		false		false	false	false				false					false																																														
 ACADM		__UNKNOWN__	hg19	1	76226845	76226846	+	Frame_Shift_Del	DEL	G	G	-			__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	NA	NA	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	g.chr1:76226845delG	ENST00000370834.5	+	12	1161	c.1083delG	c.(1081-1083)atgfs	p.M361fs	ACADM_ENST00000420607.2_Frame_Shift_Del_p.M332fs|ACADM_ENST00000370841.4_Frame_Shift_Del_p.M328fs|ACADM_ENST00000541113.1_Frame_Shift_Del_p.M292fs|ACADM_ENST00000543667.1_Frame_Shift_Del_p.M139fs|ACADM_ENST00000481374.1_Intron						__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__								__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__		AAATGGCAATGAAAGTTGAAC	0.3940149625935162	__UNKNOWN__	__UNKNOWN__								__UNKNOWN__	__UNKNOWN__	__UNKNOWN__																																																											false	false		false	false			false	false	false		false	false	false	false	false	false	false	false	false	false	false	false	false	false	false	false	false	false	false	false	false	false		false		false		false	false	false				false					false																																														
 RABGGTB		__UNKNOWN__	hg19	1	76255707	76255708	+	Frame_Shift_Del	DEL	A	A	-			__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	NA	NA	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	g.chr1:76255707delA	ENST00000319942.3	+	4	450	c.380delA	c.(379-381)cagfs	p.Q127fs	RABGGTB_ENST00000370826.3_Frame_Shift_Del_p.Q127fs|RABGGTB_ENST00000535300.1_5'UTR|RABGGTB_ENST00000496055.1_Intron						__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__								__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__		AAAGGTCTACAGAAAGAAGAT	0.3516209476309227	__UNKNOWN__	__UNKNOWN__								__UNKNOWN__	__UNKNOWN__	__UNKNOWN__																																																											false	false		false	false			false	false	false		false	false	false	false	false	false	false	false	false	false	false	false	false	false	false	false	false	false	false	false	false	false		false		false		false	false	false				false					false																																														
@@ -1279,7 +1279,7 @@ RABGGTB		__UNKNOWN__	hg19	1	76260335	76260335	+	Nonstop_Mutation	SNP	G	G	C			__U
 MSH4		__UNKNOWN__	hg19	1	76349332	76349333	+	Frame_Shift_Del	DEL	G	G	-			__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	NA	NA	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	g.chr1:76349332delG	ENST00000263187.3	+	15	2036	c.1933delG	c.(1933-1935)gcafs	p.A645fs							__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__								__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__		TGATACTTTAGCAATCAAACA	0.30673316708229426	__UNKNOWN__	__UNKNOWN__								__UNKNOWN__	__UNKNOWN__	__UNKNOWN__																																																											false	false		false	false			false	false	false		false	false	false	false	false	false	false	false	false	false	false	false	false	false	false	false	false	false	false	false	false	false		false		false		false	false	false				false					false																																														
 ASB17		__UNKNOWN__	hg19	1	76397780	76397781	+	Frame_Shift_Del	DEL	A	A	-			__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	NA	NA	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	g.chr1:76397780delA	ENST00000284142.6	-	1	338	c.197delT	c.(196-198)ctafs	p.L66fs							__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__								__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__		ATCTGTGAGTAGTGCGTCAAA	0.3740648379052369	__UNKNOWN__	__UNKNOWN__								__UNKNOWN__	__UNKNOWN__	__UNKNOWN__																																																											false	false		false	false			false	false	false		false	false	false	false	false	false	false	false	false	false	false	false	false	false	false	false	false	false	false	false	false	false		false		false		false	false	false				false					false																																														
 USP33		__UNKNOWN__	hg19	1	78207409	78207409	+	5'UTR	SNP	C	C	T			__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	NA	NA	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	g.chr1:78207409C>T	ENST00000370794.3	-	2					USP33_ENST00000370793.1_Missense_Mutation_p.G23R|USP33_ENST00000370792.3_Missense_Mutation_p.G23R|USP33_ENST00000357428.1_Missense_Mutation_p.G23R|USP33_ENST00000528150.1_Intron						__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__								__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__		TCCTGTTTCCCAAGACTTTCA	0.2743142144638404	__UNKNOWN__	__UNKNOWN__								__UNKNOWN__	__UNKNOWN__	__UNKNOWN__																																																											false	false		false	false			false	false	false		false	false	false	false	false	false	false	false	false	false	false	false	false	false	false	false	false	false	false	false	false	false		false		false		false	false	false				false					false																																														
-FAM73A		__UNKNOWN__	hg19	1	78245342	78245342	+	START_CODON_SNP	SNP	T	T	G			__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	NA	NA	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	g.chr1:78245342T>G	ENST00000370791.3	+	1	34	c.2T>G	c.(1-3)aTg>aGg	p.M1R	FAM73A_ENST00000443751.2_START_CODON_SNP_p.M1R						__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__								__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__		GCCTTCTCCATGTCAGACTGC	0.6059850374064838	__UNKNOWN__	__UNKNOWN__								__UNKNOWN__	__UNKNOWN__	__UNKNOWN__																																																											false	false		false	false			false	false	false		false	false	false	false	false	false	false	false	false	false	false	false	false	false	false	false	false	false	false	false	false	false		false		false		false	false	false				false					false																																														
+FAM73A		__UNKNOWN__	hg19	1	78245342	78245342	+	START_CODON_SNP	SNP	T	T	G			__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	NA	NA	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	g.chr1:78245342T>G	ENST00000370791.3	+	1	34	c.2T>G	c.(1-3)aTg>aGg	p.M1R	FAM73A_ENST00000443751.2_START_CODON_SNP_p.M1R|RNA5SP21_ENST00000410917.1_5'Flank						__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__								__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__		GCCTTCTCCATGTCAGACTGC	0.6059850374064838	__UNKNOWN__	__UNKNOWN__								__UNKNOWN__	__UNKNOWN__	__UNKNOWN__																																																											false	false		false	false			false	false	false		false	false	false	false	false	false	false	false	false	false	false	false	false	false	false	false	false	false	false	false	false	false		false		false		false	false	false				false					false																																														
 NEXN		__UNKNOWN__	hg19	1	78392431	78392432	+	Frame_Shift_Del	DEL	G	G	-			__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	NA	NA	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	g.chr1:78392431delG	ENST00000334785.7	+	8	901	c.718delG	c.(718-720)gaafs	p.E240fs	NEXN_ENST00000330010.8_Frame_Shift_Del_p.E176fs|NEXN_ENST00000457030.1_Frame_Shift_Del_p.E226fs|NEXN_ENST00000480732.2_5'Flank						__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__								__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__		AGCAAAAAAAGAATCACTTTC	0.33665835411471323	__UNKNOWN__	__UNKNOWN__								__UNKNOWN__	__UNKNOWN__	__UNKNOWN__																																																											false	false		false	false			false	false	false		false	false	false	false	false	false	false	false	false	false	false	false	false	false	false	false	false	false	false	false	false	false		false		false		false	false	false				false					false																																														
 GIPC2		__UNKNOWN__	hg19	1	78546380	78546381	+	Frame_Shift_Del	DEL	A	A	-			__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	NA	NA	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	g.chr1:78546380delA	ENST00000370759.3	+	2	454	c.262delA	c.(262-264)acafs	p.T88fs	GIPC2_ENST00000476882.1_Intron						__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__								__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__		CACTTTAAACACACCTAAAAT	0.32418952618453867	__UNKNOWN__	__UNKNOWN__								__UNKNOWN__	__UNKNOWN__	__UNKNOWN__																																																											false	false		false	false			false	false	false		false	false	false	false	false	false	false	false	false	false	false	false	false	false	false	false	false	false	false	false	false	false		false		false		false	false	false				false					false																																														
 LPHN2		__UNKNOWN__	hg19	1	82302600	82302600	+	5'UTR	SNP	T	T	C			__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	NA	NA	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	g.chr1:82302600T>C	ENST00000370728.1	+	5					LPHN2_ENST00000370730.1_5'UTR|LPHN2_ENST00000370715.1_5'UTR|LPHN2_ENST00000319517.6_5'UTR|LPHN2_ENST00000370713.1_5'UTR|LPHN2_ENST00000370725.1_5'UTR|LPHN2_ENST00000370723.1_5'UTR|LPHN2_ENST00000370727.1_5'UTR|LPHN2_ENST00000370721.1_5'UTR|LPHN2_ENST00000359929.3_5'UTR|LPHN2_ENST00000370717.2_5'UTR|LPHN2_ENST00000394879.1_5'UTR|LPHN2_ENST00000271029.4_5'UTR|LPHN2_ENST00000335786.5_5'UTR|LPHN2_ENST00000469377.2_Intron						__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__								__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__		GACTGATGGTTTTGATGAAGC	0.341645885286783	__UNKNOWN__	__UNKNOWN__								__UNKNOWN__	__UNKNOWN__	__UNKNOWN__																																																											false	false		false	false			false	false	false		false	false	false	false	false	false	false	false	false	false	false	false	false	false	false	false	false	false	false	false	false	false		false		false		false	false	false				false					false																																														
@@ -1293,7 +1293,7 @@ DNTTIP2		__UNKNOWN__	hg19	1	94344716	94344716	+	5'UTR	SNP	C	C	T			__UNKNOWN__	__
 ARHGAP29		__UNKNOWN__	hg19	1	94697167	94697167	+	START_CODON_SNP	SNP	T	T	C			__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	NA	NA	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	g.chr1:94697167T>C	ENST00000260526.6	-	2	184	c.1A>G	c.(1-3)Atg>Gtg	p.M1V	ARHGAP29_ENST00000370217.3_START_CODON_SNP_p.M1V						__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__								__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__		TGAGCAATCATCCTTTCATGT	0.3541147132169576	__UNKNOWN__	__UNKNOWN__								__UNKNOWN__	__UNKNOWN__	__UNKNOWN__																																																											false	false		false	false			false	false	false		false	false	false	false	false	false	false	false	false	false	false	false	false	false	false	false	false	false	false	false	false	false		false		false		false	false	false				false					false																																														
 FRRS1		__UNKNOWN__	hg19	1	100174455	100174455	+	Nonstop_Mutation	SNP	T	T	C			__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	NA	NA	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	g.chr1:100174455T>C	ENST00000287474.5	-	17	2482	c.1880A>G	c.(1879-1881)tAg>tGg	p.*627W	FRRS1_ENST00000414213.1_3'UTR						__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__								__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__		AGAATTCCTCTACAGACATGA	0.36159600997506236	__UNKNOWN__	__UNKNOWN__								__UNKNOWN__	__UNKNOWN__	__UNKNOWN__																																																											false	false		false	false			false	false	false		false	false	false	false	false	false	false	false	false	false	false	false	false	false	false	false	false	false	false	false	false	false		false		false		false	false	false				false					false																																														
 EXTL2		__UNKNOWN__	hg19	1	101354386	101354386	+	DE_NOVO_START_IN_FRAME	SNP	T	T	C			__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	NA	NA	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	g.chr1:101354386T>C	ENST00000370113.3	-	2					EXTL2_ENST00000370114.3_Splice_Site|EXTL2_ENST00000535414.1_Splice_Site|EXTL2_ENST00000480774.1_Splice_Site						__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__								__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__		CACTTGTCACTATTAAGATAA	0.30423940149625933	__UNKNOWN__	__UNKNOWN__								__UNKNOWN__	__UNKNOWN__	__UNKNOWN__																																																											false	false		false	false			false	false	false		false	false	false	false	false	false	false	false	false	false	false	false	false	false	false	false	false	false	false	false	false	false		false		false		false	false	false				false					false																																														
-EXTL2		__UNKNOWN__	hg19	1	101361178	101361178	+	5'UTR	SNP	C	C	T			__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	NA	NA	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	g.chr1:101361178C>T	ENST00000370114.3	-	1					EXTL2_ENST00000370113.3_5'Flank|EXTL2_ENST00000480774.1_5'Flank|EXTL2_ENST00000535414.1_5'Flank						__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__								__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__		GGAATGGATTCCTAAGATTTG	0.5361596009975063	__UNKNOWN__	__UNKNOWN__								__UNKNOWN__	__UNKNOWN__	__UNKNOWN__																																																											false	false		false	false			false	false	false		false	false	false	false	false	false	false	false	false	false	false	false	false	false	false	false	false	false	false	false	false	false		false		false		false	false	false				false					false																																														
+EXTL2		__UNKNOWN__	hg19	1	101361178	101361178	+	5'UTR	SNP	C	C	T			__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	NA	NA	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	g.chr1:101361178C>T	ENST00000370114.3	-	1					SLC30A7_ENST00000357650.4_5'Flank|SLC30A7_ENST00000370112.4_5'Flank|EXTL2_ENST00000370113.3_5'Flank|EXTL2_ENST00000480774.1_5'Flank|EXTL2_ENST00000535414.1_5'Flank						__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__								__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__		GGAATGGATTCCTAAGATTTG	0.5361596009975063	__UNKNOWN__	__UNKNOWN__								__UNKNOWN__	__UNKNOWN__	__UNKNOWN__																																																											false	false		false	false			false	false	false		false	false	false	false	false	false	false	false	false	false	false	false	false	false	false	false	false	false	false	false	false	false		false		false		false	false	false				false					false																																														
 STXBP3		__UNKNOWN__	hg19	1	109289353	109289353	+	5'UTR	SNP	C	C	G			__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	NA	NA	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	g.chr1:109289353C>G	ENST00000370008.3	+	1											__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__								__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__		TCCGCAGTGTCGGGAAGATGG	0.6658354114713217	__UNKNOWN__	__UNKNOWN__								__UNKNOWN__	__UNKNOWN__	__UNKNOWN__																																																											false	false		false	false			false	false	false		false	false	false	false	false	false	false	false	false	false	false	false	false	false	false	false	false	false	false	false	false	false		false		false		false	false	false				false					false																																														
 TMEM167B		__UNKNOWN__	hg19	1	109633256	109633256	+	5'UTR	SNP	C	C	G			__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	NA	NA	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	g.chr1:109633256C>G	ENST00000338272.8	+	1					TMEM167B_ENST00000473828.1_5'Flank|RP5-1065J22.8_ENST00000608574.1_RNA						__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__								__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__		CGGCCAAGTACGAAGCCTTCG	0.571072319201995	__UNKNOWN__	__UNKNOWN__								__UNKNOWN__	__UNKNOWN__	__UNKNOWN__																																																											false	false		false	false			false	false	false		false	false	false	false	false	false	false	false	false	false	false	false	false	false	false	false	false	false	false	false	false	false		false		false		false	false	false				false					false																																														
 GSTM4		__UNKNOWN__	hg19	1	110198727	110198727	+	5'UTR	SNP	C	C	G			__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	NA	NA	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	g.chr1:110198727C>G	ENST00000369836.4	+	1					GSTM4_ENST00000336075.5_5'UTR|GSTM4_ENST00000326729.5_5'Flank|GSTM4_ENST00000369833.1_5'Flank|GSTM4_ENST00000495742.1_5'Flank						__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__								__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__		CCTCCTAGTGCTTCCGGACCT	0.6508728179551122	__UNKNOWN__	__UNKNOWN__								__UNKNOWN__	__UNKNOWN__	__UNKNOWN__																																																											false	false		false	false			false	false	false		false	false	false	false	false	false	false	false	false	false	false	false	false	false	false	false	false	false	false	false	false	false		false		false		false	false	false				false					false																																														
@@ -1312,9 +1312,9 @@ CD53		__UNKNOWN__	hg19	1	111415841	111415841	+	5'UTR	SNP	G	G	A			__UNKNOWN__	__U
 ADORA3		__UNKNOWN__	hg19	1	112042574	112042574	+	Nonstop_Mutation	SNP	A	A	G			__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	NA	NA	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	g.chr1:112042574A>G	ENST00000241356.4	-	2	1361	c.955T>C	c.(955-957)Tag>Cag	p.*319Q	ADORA3_ENST00000369716.4_Intron|ADORA3_ENST00000369717.4_Intron						__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__								__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__		ATGGATAACTACTCAGAATTC	0.4538653366583541	__UNKNOWN__	__UNKNOWN__								__UNKNOWN__	__UNKNOWN__	__UNKNOWN__																																																											false	false		false	false			false	false	false		false	false	false	false	false	false	false	false	false	false	false	false	false	false	false	false	false	false	false	false	false	false		false		false		false	false	false				false					false																																														
 WNT2B		__UNKNOWN__	hg19	1	113010195	113010195	+	DE_NOVO_START_OUT_FRAME	SNP	T	T	G	189656664	byFrequency;by1000genomes	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	NA	NA	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	g.chr1:113010195T>G	ENST00000256640.5	+	1					WNT2B_ENST00000369686.5_Missense_Mutation_p.I12M						__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__								__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__		CCATAAGCATTTTTGGAATTC	0.36658354114713215	__UNKNOWN__	__UNKNOWN__								__UNKNOWN__	__UNKNOWN__	__UNKNOWN__																																																											true	false	0.9998,0.0001997	false	false	0		false	false	false	WNT2B:7482	false	true	false	true	true	false	false	false	false	false	false	true	false	false	false	false	false	false	false	true	false	false	0	false	0	false	0.999966,3.4343e-005	false	false	true	SNV	0x050000400a05040436000100	1	false	135	rs189656664		113010195	true																																														
 RHOC		__UNKNOWN__	hg19	1	113248791	113248791	+	5'UTR	SNP	C	C	A			__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	NA	NA	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	g.chr1:113248791C>A	ENST00000285735.2	-	2					RHOC_ENST00000339083.7_Intron|RHOC_ENST00000369642.3_Intron|RHOC_ENST00000369633.2_Intron|RHOC_ENST00000369638.2_Intron|RHOC_ENST00000369632.2_Intron|RHOC_ENST00000369637.1_Intron|RP11-426L16.10_ENST00000606505.1_Intron|RHOC_ENST00000369636.2_Intron|RP11-426L16.10_ENST00000471038.2_Intron						__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__								__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__		GACAGTGTGGCTACATCAGAC	0.5760598503740648	__UNKNOWN__	__UNKNOWN__								__UNKNOWN__	__UNKNOWN__	__UNKNOWN__																																																											false	false		false	false			false	false	false		false	false	false	false	false	false	false	false	false	false	false	false	false	false	false	false	false	false	false	false	false	false		false		false		false	false	false				false					false																																														
-SLC16A1		__UNKNOWN__	hg19	1	113498070	113498070	+	5'UTR	SNP	G	G	C			__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	NA	NA	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	g.chr1:113498070G>C	ENST00000538576.1	-	1					SLC16A1_ENST00000369626.3_Intron|SLC16A1_ENST00000433570.4_5'UTR|SLC16A1_ENST00000478835.1_Intron						__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__								__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__		GGGCTGCCCCGTCCCCTCCGC	0.5785536159600998	__UNKNOWN__	__UNKNOWN__								__UNKNOWN__	__UNKNOWN__	__UNKNOWN__																																																											false	false		false	false			false	false	false		false	false	false	false	false	false	false	false	false	false	false	false	false	false	false	false	false	false	false	false	false	false		false		false		false	false	false				false					false																																														
-SLC16A1		__UNKNOWN__	hg19	1	113498283	113498283	+	5'UTR	SNP	A	A	C			__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	NA	NA	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	g.chr1:113498283A>C	ENST00000538576.1	-	1					SLC16A1_ENST00000369626.3_Intron|SLC16A1_ENST00000433570.4_5'UTR|SLC16A1_ENST00000478835.1_Intron						__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__								__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__		TACCACATGCAGCAGCCTCAT	0.6109725685785536	__UNKNOWN__	__UNKNOWN__								__UNKNOWN__	__UNKNOWN__	__UNKNOWN__																																																											false	false		false	false			false	false	false		false	false	false	false	false	false	false	false	false	false	false	false	false	false	false	false	false	false	false	false	false	false		false		false		false	false	false				false					false																																														
-AP4B1		__UNKNOWN__	hg19	1	114447565	114447565	+	DE_NOVO_START_OUT_FRAME	SNP	G	G	A	1217397	byFrequency;by1000genomes	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	NA	NA	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	g.chr1:114447565G>A	ENST00000369569.1	-	1					AP4B1_ENST00000256658.4_DE_NOVO_START_OUT_FRAME|AP4B1_ENST00000369566.3_5'Flank|AP4B1_ENST00000369567.1_5'Flank						__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__								__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__		AGGCCCTACCGTCGGCCGGCA	0.6309226932668329	__UNKNOWN__	__UNKNOWN__								__UNKNOWN__	__UNKNOWN__	__UNKNOWN__																																																											true	false	0.6705,0.3295	false	false	1		false	true	false	DCLRE1B:64858|AP4B1:10717	true	true	true	true	true	false	false	false	false	false	false	false	false	false	false	false	false	false	true	false	true	false	0	true	0	false	0.586304,0.413696	false	false	true	SNV	0x0501004a000515053f000101	1	false	87	rs1217397		114447565	true																																														
+SLC16A1		__UNKNOWN__	hg19	1	113498070	113498070	+	5'UTR	SNP	G	G	C			__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	NA	NA	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	g.chr1:113498070G>C	ENST00000538576.1	-	1					SLC16A1_ENST00000369626.3_Intron|SLC16A1_ENST00000433570.4_5'UTR|SLC16A1_ENST00000478835.1_Intron|RP11-31F15.1_ENST00000416193.1_5'Flank|RP11-31F15.1_ENST00000420168.1_5'Flank|RP11-31F15.1_ENST00000428411.1_5'Flank|RP11-31F15.1_ENST00000435800.2_5'Flank						__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__								__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__		GGGCTGCCCCGTCCCCTCCGC	0.5785536159600998	__UNKNOWN__	__UNKNOWN__								__UNKNOWN__	__UNKNOWN__	__UNKNOWN__																																																											false	false		false	false			false	false	false		false	false	false	false	false	false	false	false	false	false	false	false	false	false	false	false	false	false	false	false	false	false		false		false		false	false	false				false					false																																														
+SLC16A1		__UNKNOWN__	hg19	1	113498283	113498283	+	5'UTR	SNP	A	A	C			__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	NA	NA	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	g.chr1:113498283A>C	ENST00000538576.1	-	1					SLC16A1_ENST00000369626.3_Intron|SLC16A1_ENST00000433570.4_5'UTR|SLC16A1_ENST00000478835.1_Intron|RP11-31F15.1_ENST00000416193.1_5'Flank|RP11-31F15.1_ENST00000420168.1_5'Flank|RP11-31F15.1_ENST00000428411.1_5'Flank|RP11-31F15.1_ENST00000435800.2_5'Flank						__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__								__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__		TACCACATGCAGCAGCCTCAT	0.6109725685785536	__UNKNOWN__	__UNKNOWN__								__UNKNOWN__	__UNKNOWN__	__UNKNOWN__																																																											false	false		false	false			false	false	false		false	false	false	false	false	false	false	false	false	false	false	false	false	false	false	false	false	false	false	false	false	false		false		false		false	false	false				false					false																																														
+AP4B1		__UNKNOWN__	hg19	1	114447565	114447565	+	DE_NOVO_START_OUT_FRAME	SNP	G	G	A	1217397	byFrequency;by1000genomes	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	NA	NA	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	g.chr1:114447565G>A	ENST00000369569.1	-	1					AP4B1_ENST00000256658.4_DE_NOVO_START_OUT_FRAME|DCLRE1B_ENST00000369563.3_5'Flank|AP4B1_ENST00000369566.3_5'Flank|AP4B1_ENST00000369567.1_5'Flank|DCLRE1B_ENST00000466480.1_5'Flank						__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__								__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__		AGGCCCTACCGTCGGCCGGCA	0.6309226932668329	__UNKNOWN__	__UNKNOWN__								__UNKNOWN__	__UNKNOWN__	__UNKNOWN__																																																											true	false	0.6705,0.3295	false	false	1		false	true	false	DCLRE1B:64858|AP4B1:10717	true	true	true	true	true	false	false	false	false	false	false	false	false	false	false	false	false	false	true	false	true	false	0	true	0	false	0.586304,0.413696	false	false	true	SNV	0x0501004a000515053f000101	1	false	87	rs1217397		114447565	true																																														
 NHLH2		__UNKNOWN__	hg19	1	116384580	116384580	+	5'UTR	SNP	C	C	T			__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	NA	NA	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	g.chr1:116384580C>T	ENST00000369506.1	-	1					NHLH2_ENST00000320238.3_5'Flank						__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__								__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__		ACCAGTGTGTCCCAGTACATA	0.3341645885286783	__UNKNOWN__	__UNKNOWN__								__UNKNOWN__	__UNKNOWN__	__UNKNOWN__																																																											false	false		false	false			false	false	false		false	false	false	false	false	false	false	false	false	false	false	false	false	false	false	false	false	false	false	false	false	false		false		false		false	false	false				false					false																																														
 ATP1A1		__UNKNOWN__	hg19	1	116916056	116916056	+	5'UTR	SNP	C	C	T			__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	NA	NA	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	g.chr1:116916056C>T	ENST00000295598.5	+	1					AL136376.1_ENST00000598661.1_Missense_Mutation_p.R59Q|ATP1A1_ENST00000537345.1_5'Flank						__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__								__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__		CCCGCTCGCTCGGCCGGGAGC	0.7630922693266833	__UNKNOWN__	__UNKNOWN__								__UNKNOWN__	__UNKNOWN__	__UNKNOWN__																																																											false	false		false	false			false	false	false		false	false	false	false	false	false	false	false	false	false	false	false	false	false	false	false	false	false	false	false	false	false		false		false		false	false	false				false					false																																														
 HMGCS2		__UNKNOWN__	hg19	1	120307172	120307173	+	Frame_Shift_Ins	INS	-	-	TTGGCCTCCAGGGCCA			__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	NA	NA	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	g.chr1:120307172_120307173insTTGGCCTCCAGGGCCA	ENST00000369406.3	-	2	232	c.181_182insTGGCCCTGGAGGCCAA	c.(181-183)gtcfs	p.Y62fs	HMGCS2_ENST00000544913.2_Frame_Shift_Ins_p.Y62fs|HMGCS2_ENST00000476640.1_Intron						__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__								__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__		GGGAAGTAGACCTCCAGGGC	0.4875	__UNKNOWN__	__UNKNOWN__								__UNKNOWN__	__UNKNOWN__	__UNKNOWN__																																																											false	false		false	false			false	false	false		false	false	false	false	false	false	false	false	false	false	false	false	false	false	false	false	false	false	false	false	false	false		false		false		false	false	false				false					false																																														
@@ -1329,9 +1329,9 @@ FAM63A		__UNKNOWN__	hg19	1	150975123	150975123	+	5'UTR	SNP	G	G	A			__UNKNOWN__	_
 LYSMD1		__UNKNOWN__	hg19	1	151138250	151138250	+	5'UTR	SNP	G	G	T			__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	NA	NA	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	g.chr1:151138250G>T	ENST00000368908.5	-	1					LYSMD1_ENST00000440902.2_Missense_Mutation_p.S3R|SCNM1_ENST00000368905.4_5'Flank|SCNM1_ENST00000461862.1_5'Flank						__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__								__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__		TCAAAGGTCCGCTCCGCATAA	0.5511221945137157	__UNKNOWN__	__UNKNOWN__								__UNKNOWN__	__UNKNOWN__	__UNKNOWN__																																																											false	false		false	false			false	false	false		false	false	false	false	false	false	false	false	false	false	false	false	false	false	false	false	false	false	false	false	false	false		false		false		false	false	false				false					false																																														
 PSMB4		__UNKNOWN__	hg19	1	151372047	151372047	+	5'UTR	SNP	C	C	T			__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	NA	NA	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	g.chr1:151372047C>T	ENST00000290541.6	+	1											__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__								__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__		TTCATTTTTTCTGCTACCGTG	0.5486284289276808	__UNKNOWN__	__UNKNOWN__								__UNKNOWN__	__UNKNOWN__	__UNKNOWN__																																																											false	false		false	false			false	false	false		false	false	false	false	false	false	false	false	false	false	false	false	false	false	false	false	false	false	false	false	false	false		false		false		false	false	false				false					false																																														
 PSMB4		__UNKNOWN__	hg19	1	151372065	151372065	+	START_CODON_SNP	SNP	T	T	C			__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	NA	NA	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	g.chr1:151372065T>C	ENST00000290541.6	+	1	56	c.2T>C	c.(1-3)aTg>aCg	p.M1T							__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__								__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__		GTGACTAAGATGGAAGCGTTT	0.5610972568578554	__UNKNOWN__	__UNKNOWN__								__UNKNOWN__	__UNKNOWN__	__UNKNOWN__																																																											false	false		false	false			false	false	false		false	false	false	false	false	false	false	false	false	false	false	false	false	false	false	false	false	false	false	false	false	false		false		false		false	false	false				false					false																																														
-OAZ3		__UNKNOWN__	hg19	1	151739222	151739223	+	5'UTR	DEL	T	T	-	751011390		__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	NA	NA	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	g.chr1:151739222delT	ENST00000479764.1	+	1					OAZ3_ENST00000453029.2_Intron|OAZ3_ENST00000321531.5_Intron|OAZ3_ENST00000400999.1_5'UTR|OAZ3_ENST00000315067.8_Intron|RP11-98D18.16_ENST00000596133.1_RNA|RP11-98D18.3_ENST00000512280.1_RNA|OAZ3_ENST00000577465.1_Intron						__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__								__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__		GTGTCGCCCCTCTGTCTACTC	0.456359102244389	__UNKNOWN__	__UNKNOWN__								__UNKNOWN__	__UNKNOWN__	__UNKNOWN__																																																											true	false		false	false			false	false	false	OAZ3:51686	false	true	true	false	false	false	false	false	false	false	true	false	false	false	false	false	false	false	false	true	false	false	0	false	0	false		false	false	false	DIV	0x050000081205000402000200	1	false	144	rs751011390		151739222	false																																														
-OAZ3		__UNKNOWN__	hg19	1	151739333	151739333	+	5'UTR	SNP	C	C	T	188726350	byFrequency;by1000genomes	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	NA	NA	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	g.chr1:151739333C>T	ENST00000479764.1	+	1					OAZ3_ENST00000453029.2_Intron|OAZ3_ENST00000321531.5_Intron|OAZ3_ENST00000400999.1_5'UTR|OAZ3_ENST00000315067.8_Intron|RP11-98D18.16_ENST00000596133.1_RNA|RP11-98D18.3_ENST00000512280.1_RNA|OAZ3_ENST00000577465.1_Intron						__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__								__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__		GATCACTCTCCGGGAGAAGAT	0.4239401496259352	__UNKNOWN__	__UNKNOWN__								__UNKNOWN__	__UNKNOWN__	__UNKNOWN__																																																											true	false		false	false			false	false	false	OAZ3:51686	false	true	true	true	false	false	false	false	false	false	false	true	false	false	false	false	false	false	false	true	false	false	0	false	0	false	0.999863,0.000137372	false	false	false	SNV	0x050000080a05040416000100	1	false	135	rs188726350		151739333	true																																														
-OAZ3		__UNKNOWN__	hg19	1	151739679	151739679	+	5'UTR	SNP	C	C	A	201902593	byFrequency	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	NA	NA	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	g.chr1:151739679C>A	ENST00000479764.1	+	2					OAZ3_ENST00000453029.2_Missense_Mutation_p.R38S|OAZ3_ENST00000321531.5_Missense_Mutation_p.R25S|OAZ3_ENST00000400999.1_5'UTR|OAZ3_ENST00000315067.8_Missense_Mutation_p.R25S|RP11-98D18.3_ENST00000512280.1_RNA|OAZ3_ENST00000577465.1_Intron|RP11-98D18.16_ENST00000596133.1_5'Flank						__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__								__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__		ACTCCAGCCCCGTTCCTGCCT	0.48877805486284287	__UNKNOWN__	__UNKNOWN__								__UNKNOWN__	__UNKNOWN__	__UNKNOWN__																																																											true	false		false	false			false	false	false	OAZ3:51686	false	true	false	false	false	false	false	false	false	true	false	true	false	false	false	false	false	false	false	true	false	false	0	false	0	false	0.999931,3.4343e-005,.,3.4343e-005	false	false	false	SNV	0x050000000a05040402000104	1	false	137	rs201902593		151739679	true																																														
+OAZ3		__UNKNOWN__	hg19	1	151739222	151739223	+	5'UTR	DEL	T	T	-	751011390		__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	NA	NA	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	g.chr1:151739222delT	ENST00000479764.1	+	1					OAZ3_ENST00000453029.2_Intron|OAZ3_ENST00000321531.5_Intron|OAZ3_ENST00000400999.1_5'UTR|OAZ3_ENST00000315067.8_Intron|MRPL9_ENST00000368829.3_5'Flank|MRPL9_ENST00000368830.3_5'Flank|MRPL9_ENST00000467306.1_5'Flank|RP11-98D18.16_ENST00000596133.1_RNA|RP11-98D18.3_ENST00000512280.1_RNA|OAZ3_ENST00000577465.1_Intron						__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__								__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__		GTGTCGCCCCTCTGTCTACTC	0.456359102244389	__UNKNOWN__	__UNKNOWN__								__UNKNOWN__	__UNKNOWN__	__UNKNOWN__																																																											true	false		false	false			false	false	false	OAZ3:51686	false	true	true	false	false	false	false	false	false	false	true	false	false	false	false	false	false	false	false	true	false	false	0	false	0	false		false	false	false	DIV	0x050000081205000402000200	1	false	144	rs751011390		151739222	false																																														
+OAZ3		__UNKNOWN__	hg19	1	151739333	151739333	+	5'UTR	SNP	C	C	T	188726350	byFrequency;by1000genomes	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	NA	NA	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	g.chr1:151739333C>T	ENST00000479764.1	+	1					OAZ3_ENST00000453029.2_Intron|OAZ3_ENST00000321531.5_Intron|OAZ3_ENST00000400999.1_5'UTR|OAZ3_ENST00000315067.8_Intron|MRPL9_ENST00000368829.3_5'Flank|MRPL9_ENST00000368830.3_5'Flank|MRPL9_ENST00000467306.1_5'Flank|RP11-98D18.16_ENST00000596133.1_RNA|RP11-98D18.3_ENST00000512280.1_RNA|OAZ3_ENST00000577465.1_Intron						__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__								__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__		GATCACTCTCCGGGAGAAGAT	0.4239401496259352	__UNKNOWN__	__UNKNOWN__								__UNKNOWN__	__UNKNOWN__	__UNKNOWN__																																																											true	false		false	false			false	false	false	OAZ3:51686	false	true	true	true	false	false	false	false	false	false	false	true	false	false	false	false	false	false	false	true	false	false	0	false	0	false	0.999863,0.000137372	false	false	false	SNV	0x050000080a05040416000100	1	false	135	rs188726350		151739333	true																																														
+OAZ3		__UNKNOWN__	hg19	1	151739679	151739679	+	5'UTR	SNP	C	C	A	201902593	byFrequency	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	NA	NA	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	g.chr1:151739679C>A	ENST00000479764.1	+	2					OAZ3_ENST00000453029.2_Missense_Mutation_p.R38S|OAZ3_ENST00000321531.5_Missense_Mutation_p.R25S|OAZ3_ENST00000400999.1_5'UTR|OAZ3_ENST00000315067.8_Missense_Mutation_p.R25S|MRPL9_ENST00000368829.3_5'Flank|MRPL9_ENST00000368830.3_5'Flank|MRPL9_ENST00000467306.1_5'Flank|RP11-98D18.3_ENST00000512280.1_RNA|OAZ3_ENST00000577465.1_Intron|RP11-98D18.16_ENST00000596133.1_5'Flank						__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__								__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__		ACTCCAGCCCCGTTCCTGCCT	0.48877805486284287	__UNKNOWN__	__UNKNOWN__								__UNKNOWN__	__UNKNOWN__	__UNKNOWN__																																																											true	false		false	false			false	false	false	OAZ3:51686	false	true	false	false	false	false	false	false	false	true	false	true	false	false	false	false	false	false	false	true	false	false	0	false	0	false	0.999931,3.4343e-005,.,3.4343e-005	false	false	false	SNV	0x050000000a05040402000104	1	false	137	rs201902593		151739679	true																																														
 FLG		__UNKNOWN__	hg19	1	152275177	152275177	+	Silent	SNP	T	T	C	139645876	byFrequency	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	NA	NA	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	g.chr1:152275177T>C	ENST00000368799.1	-	3	12221	c.12185A>G	c.(12184-12186)tAa>tGa	p.*4062*	FLG-AS1_ENST00000420707.1_RNA|FLG-AS1_ENST00000593011.1_RNA						__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__								__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__		ATTAATTTCTTACTCATAGTA	0.32169576059850374	__UNKNOWN__	__UNKNOWN__								__UNKNOWN__	__UNKNOWN__	__UNKNOWN__																																																											true	false		false	false			false	false	false	FLG:2312	false	true	false	false	false	false	false	false	false	false	false	false	false	false	false	false	false	false	false	true	false	false	0	false	0	true	0.999966,3.4343e-005	false	false	false	SNV	0x050000000305040402000100	1	false	134	rs139645876		152275177	true																																														
 FLG2		__UNKNOWN__	hg19	1	152323087	152323087	+	Nonstop_Mutation	SNP	C	C	G	150529054	byFrequency;by1000genomes	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	NA	NA	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	g.chr1:152323087C>G	ENST00000388718.5	-	3	7248	c.7175G>C	c.(7174-7176)tGa>tCa	p.*2392S	FLG-AS1_ENST00000392688.2_RNA|FLG-AS1_ENST00000445097.1_RNA						__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__								__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__		AAATAACTGTCAATGTCTAGA	0.3940149625935162	__UNKNOWN__	__UNKNOWN__								__UNKNOWN__	__UNKNOWN__	__UNKNOWN__																																																											true	false	0.997,0.002995	false	false	1		false	false	false	FLG2:388698|FLG-AS1:339400	false	true	true	true	true	false	false	false	false	false	false	false	false	false	false	false	false	false	false	true	false	false	0	false	0	false	0.997321,0.00267876	false	false	false	SNV	0x050000080205040436000100	1	false	134	rs150529054		152323087	true																																														
 FLG2		__UNKNOWN__	hg19	1	152324500	152324501	+	Frame_Shift_Ins	INS	-	-	C	760715355	byFrequency	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	NA	NA	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	g.chr1:152324500_152324501insC	ENST00000388718.5	-	3	5835	c.5761_5762insG	c.(5761-5763)actfs	p.T1921fs	FLG-AS1_ENST00000392688.2_RNA|FLG-AS1_ENST00000445097.1_RNA						__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__								__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__		CCATGAGTAGTTTGGTGTCT	0.5175	__UNKNOWN__	__UNKNOWN__								__UNKNOWN__	__UNKNOWN__	__UNKNOWN__																																																											true	false		false	false			false	false	false	FLG2:388698|FLG-AS1:339400	false	true	true	false	false	false	false	false	false	false	true	false	false	false	false	false	false	false	false	true	false	false	0	false	0	false		false	false	false	DIV	0x050000081205040402000200	1	false	144	rs760715355		152324500	true																																														
@@ -1344,10 +1344,10 @@ S100A7		__UNKNOWN__	hg19	1	153431505	153431505	+	5'UTR	SNP	G	G	T			__UNKNOWN__	_
 S100A5		__UNKNOWN__	hg19	1	153514241	153514241	+	5'UTR	SNP	A	A	C			__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	NA	NA	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	g.chr1:153514241A>C	ENST00000368718.1	-	1					S100A5_ENST00000359215.1_5'UTR|S100A5_ENST00000368717.2_5'Flank						__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__								__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__		GAAGTGTGGGACAAACACAGG	0.4912718204488778	__UNKNOWN__	__UNKNOWN__								__UNKNOWN__	__UNKNOWN__	__UNKNOWN__																																																											false	false		false	false			false	false	false		false	false	false	false	false	false	false	false	false	false	false	false	false	false	false	false	false	false	false	false	false	false		false		false		false	false	false				false					false																																														
 S100A4		__UNKNOWN__	hg19	1	153517519	153517519	+	5'UTR	SNP	G	G	A			__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	NA	NA	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	g.chr1:153517519G>A	ENST00000368715.1	-	1					S100A4_ENST00000368716.4_Intron|S100A4_ENST00000354332.4_Intron|S100A4_ENST00000368714.1_Intron|S100A5_ENST00000359215.1_5'Flank|S100A5_ENST00000368717.2_5'Flank|S100A5_ENST00000368718.1_5'Flank|S100A4_ENST00000481009.1_Intron						__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__								__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__		CTGGAGATTCGGGCAGCAAAC	0.6109725685785536	__UNKNOWN__	__UNKNOWN__								__UNKNOWN__	__UNKNOWN__	__UNKNOWN__																																																											false	false		false	false			false	false	false		false	false	false	false	false	false	false	false	false	false	false	false	false	false	false	false	false	false	false	false	false	false		false		false		false	false	false				false					false																																														
 S100A16		__UNKNOWN__	hg19	1	153580653	153580653	+	5'UTR	SNP	C	C	A			__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	NA	NA	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	g.chr1:153580653C>A	ENST00000368704.1	-	2					S100A16_ENST00000368706.4_5'UTR|S100A16_ENST00000368705.2_5'UTR|S100A16_ENST00000368703.2_5'UTR|S100A16_ENST00000474991.1_Splice_Site						__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__								__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__		GCTGGCGGGGCCTGGACACCA	0.571072319201995	__UNKNOWN__	__UNKNOWN__								__UNKNOWN__	__UNKNOWN__	__UNKNOWN__																																																											false	false		false	false			false	false	false		false	false	false	false	false	false	false	false	false	false	false	false	false	false	false	false	false	false	false	false	false	false		false		false		false	false	false				false					false																																														
-S100A13		__UNKNOWN__	hg19	1	153604519	153604519	+	5'UTR	SNP	G	G	A			__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	NA	NA	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	g.chr1:153604519G>A	ENST00000368699.1	-	2					S100A13_ENST00000339556.4_5'Flank|S100A13_ENST00000392622.1_5'Flank|S100A13_ENST00000392623.1_5'Flank|S100A13_ENST00000440685.2_5'Flank|S100A13_ENST00000491177.1_5'Flank|RP1-178F15.4_ENST00000469931.2_RNA|RP1-178F15.5_ENST00000497086.1_RNA|RP1-178F15.4_ENST00000607839.1_RNA						__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__								__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__		CCAGCCATCCGATGTCTGTCT	0.5411471321695761	__UNKNOWN__	__UNKNOWN__								__UNKNOWN__	__UNKNOWN__	__UNKNOWN__																																																											false	false		false	false			false	false	false		false	false	false	false	false	false	false	false	false	false	false	false	false	false	false	false	false	false	false	false	false	false		false		false		false	false	false				false					false																																														
+S100A13		__UNKNOWN__	hg19	1	153604519	153604519	+	5'UTR	SNP	G	G	A			__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	NA	NA	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	g.chr1:153604519G>A	ENST00000368699.1	-	2					S100A13_ENST00000339556.4_5'Flank|CHTOP_ENST00000368690.3_5'Flank|CHTOP_ENST00000368694.3_5'Flank|S100A13_ENST00000392622.1_5'Flank|S100A13_ENST00000392623.1_5'Flank|CHTOP_ENST00000403433.1_5'Flank|S100A13_ENST00000440685.2_5'Flank|S100A13_ENST00000491177.1_5'Flank|CHTOP_ENST00000495554.1_5'Flank|RP1-178F15.4_ENST00000469931.2_RNA|RP1-178F15.5_ENST00000497086.1_RNA|RP1-178F15.4_ENST00000607839.1_RNA						__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__								__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__		CCAGCCATCCGATGTCTGTCT	0.5411471321695761	__UNKNOWN__	__UNKNOWN__								__UNKNOWN__	__UNKNOWN__	__UNKNOWN__																																																											false	false		false	false			false	false	false		false	false	false	false	false	false	false	false	false	false	false	false	false	false	false	false	false	false	false	false	false	false		false		false		false	false	false				false					false																																														
 SLC27A3		__UNKNOWN__	hg19	1	153752478	153752478	+	Nonstop_Mutation	SNP	A	A	G			__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	NA	NA	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	g.chr1:153752478A>G	ENST00000271857.2	+	10	3196	c.2436A>G	c.(2434-2436)tgA>tgG	p.*812W	SLC27A3_ENST00000368661.3_Nonstop_Mutation_p.*731W|SLC27A3_ENST00000484014.1_Intron						__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__								__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__		TTCGAATCTGAGAACTTCCAC	0.5386533665835411	__UNKNOWN__	__UNKNOWN__								__UNKNOWN__	__UNKNOWN__	__UNKNOWN__																																																											false	false		false	false			false	false	false		false	false	false	false	false	false	false	false	false	false	false	false	false	false	false	false	false	false	false	false	false	false		false		false		false	false	false				false					false																																														
-SLC39A1		__UNKNOWN__	hg19	1	153935543	153935543	+	5'UTR	SNP	G	G	A			__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	NA	NA	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	g.chr1:153935543G>A	ENST00000368623.3	-	1					SLC39A1_ENST00000368621.1_5'UTR|SLC39A1_ENST00000310483.6_Intron|SLC39A1_ENST00000356205.4_Intron|SLC39A1_ENST00000537590.1_Intron|SLC39A1_ENST00000461071.1_Intron						__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__								__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__		ACCTGGAGCTGGAGTTCCCCT	0.5511221945137157	__UNKNOWN__	__UNKNOWN__								__UNKNOWN__	__UNKNOWN__	__UNKNOWN__																																																											false	false		false	false			false	false	false		false	false	false	false	false	false	false	false	false	false	false	false	false	false	false	false	false	false	false	false	false	false		false		false		false	false	false				false					false																																														
-RPS27		__UNKNOWN__	hg19	1	153963239	153963239	+	5'UTR	SNP	C	C	T			__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	NA	NA	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	g.chr1:153963239C>T	ENST00000368567.4	+	1					RPS27_ENST00000392558.4_5'UTR|RPS27_ENST00000493224.1_Splice_Site						__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__								__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__		GCTTTCGCTCCTTTCCGGCGG	0.5336658354114713	__UNKNOWN__	__UNKNOWN__								__UNKNOWN__	__UNKNOWN__	__UNKNOWN__																																																											false	false		false	false			false	false	false		false	false	false	false	false	false	false	false	false	false	false	false	false	false	false	false	false	false	false	false	false	false		false		false		false	false	false				false					false																																														
+SLC39A1		__UNKNOWN__	hg19	1	153935543	153935543	+	5'UTR	SNP	G	G	A			__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	NA	NA	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	g.chr1:153935543G>A	ENST00000368623.3	-	1					SLC39A1_ENST00000368621.1_5'UTR|SLC39A1_ENST00000310483.6_Intron|SLC39A1_ENST00000356205.4_Intron|SLC39A1_ENST00000537590.1_Intron|CREB3L4_ENST00000271889.4_5'Flank|CREB3L4_ENST00000368607.3_5'Flank|CRTC2_ENST00000368630.3_5'Flank|CRTC2_ENST00000368633.1_5'Flank|CREB3L4_ENST00000405694.3_5'Flank|CRTC2_ENST00000476883.1_5'Flank|SLC39A1_ENST00000461071.1_Intron|RP11-422P24.10_ENST00000608147.1_5'Flank						__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__								__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__		ACCTGGAGCTGGAGTTCCCCT	0.5511221945137157	__UNKNOWN__	__UNKNOWN__								__UNKNOWN__	__UNKNOWN__	__UNKNOWN__																																																											false	false		false	false			false	false	false		false	false	false	false	false	false	false	false	false	false	false	false	false	false	false	false	false	false	false	false	false	false		false		false		false	false	false				false					false																																														
+RPS27		__UNKNOWN__	hg19	1	153963239	153963239	+	5'UTR	SNP	C	C	T			__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	NA	NA	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	g.chr1:153963239C>T	ENST00000368567.4	+	1					RPS27_ENST00000392558.4_5'UTR|RAB13_ENST00000368575.3_5'Flank|RAB13_ENST00000462680.1_5'Flank|RPS27_ENST00000493224.1_Splice_Site						__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__								__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__		GCTTTCGCTCCTTTCCGGCGG	0.5336658354114713	__UNKNOWN__	__UNKNOWN__								__UNKNOWN__	__UNKNOWN__	__UNKNOWN__																																																											false	false		false	false			false	false	false		false	false	false	false	false	false	false	false	false	false	false	false	false	false	false	false	false	false	false	false	false	false		false		false		false	false	false				false					false																																														
 HAX1		__UNKNOWN__	hg19	1	154245142	154245142	+	5'UTR	SNP	T	T	G			__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	NA	NA	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	g.chr1:154245142T>G	ENST00000328703.7	+	1					HAX1_ENST00000483970.2_5'UTR|HAX1_ENST00000457918.2_5'UTR|HAX1_ENST00000532105.1_5'Flank						__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__								__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__		TGCGCAGGTTTCCCCCGTCTG	0.5660847880299252	__UNKNOWN__	__UNKNOWN__								__UNKNOWN__	__UNKNOWN__	__UNKNOWN__																																																											false	false		false	false			false	false	false		false	false	false	false	false	false	false	false	false	false	false	false	false	false	false	false	false	false	false	false	false	false		false		false		false	false	false				false					false																																														
 FLAD1		__UNKNOWN__	hg19	1	154956373	154956373	+	5'UTR	SNP	A	A	G			__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	NA	NA	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	g.chr1:154956373A>G	ENST00000315144.10	+	2					FLAD1_ENST00000368433.1_Missense_Mutation_p.D68G|FLAD1_ENST00000292180.3_Missense_Mutation_p.D68G|FLAD1_ENST00000368432.1_5'UTR|FLAD1_ENST00000368431.3_5'UTR|FLAD1_ENST00000295530.2_5'Flank|FLAD1_ENST00000368428.1_5'Flank|FLAD1_ENST00000405236.2_5'Flank|FLAD1_ENST00000487371.1_Intron						__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__								__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__		TGCCCTGTAGACCTGGCAGGC	0.5910224438902744	__UNKNOWN__	__UNKNOWN__								__UNKNOWN__	__UNKNOWN__	__UNKNOWN__																																																											false	false		false	false			false	false	false		false	false	false	false	false	false	false	false	false	false	false	false	false	false	false	false	false	false	false	false	false	false		false		false		false	false	false				false					false																																														
 GBA		__UNKNOWN__	hg19	1	155214473	155214473	+	5'UTR	SNP	A	A	G			__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	NA	NA	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	g.chr1:155214473A>G	ENST00000428024.3	-	1					GBA_ENST00000327247.5_5'Flank|GBA_ENST00000368373.3_5'Flank|GBA_ENST00000427500.3_5'Flank|GBA_ENST00000493842.1_5'Flank|GBA_ENST00000536770.1_5'Flank						__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__								__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__		TCGGGGCGGGACCTGGATTGG	0.6159600997506235	__UNKNOWN__	__UNKNOWN__								__UNKNOWN__	__UNKNOWN__	__UNKNOWN__																																																											false	false		false	false			false	false	false		false	false	false	false	false	false	false	false	false	false	false	false	false	false	false	false	false	false	false	false	false	false		false		false		false	false	false				false					false																																														
@@ -1362,7 +1362,7 @@ LY9		__UNKNOWN__	hg19	1	160797604	160797604	+	Nonstop_Mutation	SNP	T	T	G			__UNK
 FCRLA		__UNKNOWN__	hg19	1	161677004	161677004	+	START_CODON_SNP	SNP	A	A	T			__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	NA	NA	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	g.chr1:161677004A>T	ENST00000236938.6	+	1	243	c.1A>T	c.(1-3)Atg>Ttg	p.M1L	FCRLA_ENST00000367957.2_START_CODON_SNP_p.M1L|FCRLA_ENST00000367959.2_START_CODON_SNP_p.M1L|FCRLA_ENST00000546024.1_START_CODON_SNP_p.M1L|FCRLA_ENST00000540521.1_START_CODON_SNP_p.M1L|FCRLA_ENST00000367949.2_START_CODON_SNP_p.M1L|FCRLA_ENST00000350710.3_START_CODON_SNP_p.M1L|FCRLA_ENST00000540926.1_5'UTR|FCRLA_ENST00000294796.4_5'Flank|FCRLA_ENST00000309691.6_5'Flank|FCRLA_ENST00000349527.4_5'Flank|FCRLA_ENST00000367950.1_5'Flank|FCRLA_ENST00000367953.3_5'Flank|FCRLA_ENST00000470841.1_5'Flank						__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__								__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__		GAGAGGTTTCATGTTGAAGAA	0.4488778054862843	__UNKNOWN__	__UNKNOWN__								__UNKNOWN__	__UNKNOWN__	__UNKNOWN__																																																											false	false		false	false			false	false	false		false	false	false	false	false	false	false	false	false	false	false	false	false	false	false	false	false	false	false	false	false	false		false		false		false	false	false				false					false																																														
 FCRLB		__UNKNOWN__	hg19	1	161697451	161697451	+	Nonstop_Mutation	SNP	G	G	C			__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	NA	NA	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	g.chr1:161697451G>C	ENST00000367948.2	+	8	1495	c.1280G>C	c.(1279-1281)tGa>tCa	p.*427S	FCRLB_ENST00000336830.5_3'UTR|FCRLB_ENST00000367944.3_3'UTR|FCRLB_ENST00000367946.3_3'UTR|FCRLB_ENST00000367945.1_3'UTR|FCRLB_ENST00000392158.1_Nonstop_Mutation_p.*427S|FCRLB_ENST00000495397.1_Intron						__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__								__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__		GTGGAGAGCTGAGGGGGCGGC	0.5635910224438903	__UNKNOWN__	__UNKNOWN__								__UNKNOWN__	__UNKNOWN__	__UNKNOWN__																																																											false	false		false	false			false	false	false		false	false	false	false	false	false	false	false	false	false	false	false	false	false	false	false	false	false	false	false	false	false		false		false		false	false	false				false					false																																														
 MGST3		__UNKNOWN__	hg19	1	165619079	165619079	+	DE_NOVO_START_OUT_FRAME	SNP	C	C	T			__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	NA	NA	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	g.chr1:165619079C>T	ENST00000367889.3	+	2					MGST3_ENST00000367884.2_DE_NOVO_START_OUT_FRAME|MGST3_ENST00000367888.4_DE_NOVO_START_OUT_FRAME|MGST3_ENST00000367883.1_Splice_Site_p.R13C|MGST3_ENST00000367885.1_Splice_Site_p.R13C|MGST3_ENST00000367886.2_Splice_Site_p.R13C						__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__								__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__		CTTCCACAGACGCAAGATGGC	0.44389027431421446	__UNKNOWN__	__UNKNOWN__								__UNKNOWN__	__UNKNOWN__	__UNKNOWN__																																																											false	false		false	false			false	false	false		false	false	false	false	false	false	false	false	false	false	false	false	false	false	false	false	false	false	false	false	false	false		false		false		false	false	false				false					false																																														
-ALDH9A1		__UNKNOWN__	hg19	1	165667795	165667795	+	START_CODON_SNP	SNP	T	T	G			__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	NA	NA	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	g.chr1:165667795T>G	ENST00000354775.4	-	1	306	c.1A>C	c.(1-3)Atg>Ctg	p.M1L	ALDH9A1_ENST00000461664.1_5'Flank|ALDH9A1_ENST00000538148.1_5'Flank						__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__								__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__		CGGAGAAACATGAGTGGCGGA	0.6957605985037406	__UNKNOWN__	__UNKNOWN__								__UNKNOWN__	__UNKNOWN__	__UNKNOWN__																																																											false	false		false	false			false	false	false		false	false	false	false	false	false	false	false	false	false	false	false	false	false	false	false	false	false	false	false	false	false		false		false		false	false	false				false					false																																														
+ALDH9A1		__UNKNOWN__	hg19	1	165667795	165667795	+	START_CODON_SNP	SNP	T	T	G			__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	NA	NA	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	g.chr1:165667795T>G	ENST00000354775.4	-	1	306	c.1A>C	c.(1-3)Atg>Ctg	p.M1L	ALDH9A1_ENST00000461664.1_5'Flank|ALDH9A1_ENST00000538148.1_5'Flank|RP11-466F5.6_ENST00000400982.2_5'Flank						__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__								__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__		CGGAGAAACATGAGTGGCGGA	0.6957605985037406	__UNKNOWN__	__UNKNOWN__								__UNKNOWN__	__UNKNOWN__	__UNKNOWN__																																																											false	false		false	false			false	false	false		false	false	false	false	false	false	false	false	false	false	false	false	false	false	false	false	false	false	false	false	false	false		false		false		false	false	false				false					false																																														
 FMO2		__UNKNOWN__	hg19	1	171154418	171154418	+	DE_NOVO_START_OUT_FRAME	SNP	C	C	T	28369797	byFrequency;by1000genomes	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	NA	NA	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	g.chr1:171154418C>T	ENST00000209929.7	+	1					FMO2_ENST00000441535.1_DE_NOVO_START_OUT_FRAME|FMO2_ENST00000529935.1_5'Flank						__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__								__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__		CTCTTAAAAACGCTTCCAACT	0.43640897755610975	__UNKNOWN__	__UNKNOWN__								__UNKNOWN__	__UNKNOWN__	__UNKNOWN__																																																											true	false	0.9882,.,0.01178	false	false	1		false	true	false	FMO2:2327	true	true	false	true	true	false	false	false	false	false	false	false	false	false	false	false	false	false	false	false	false	false	0	true	0	false	0.993028,.,0.00697163	true	false	true	SNV	0x050110400005150537000100	1	false	125	rs28369797		171154418	true																																														
 FMO2		__UNKNOWN__	hg19	1	171178090	171178090	+	Nonstop_Mutation	SNP	T	T	C	6661174	byFrequency;by1000genomes	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	NA	NA	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	g.chr1:171178090T>C	ENST00000209929.7	+	9	1572	c.1414T>C	c.(1414-1416)Tag>Cag	p.*472Q	FMO2_ENST00000441535.1_Nonstop_Mutation_p.*472Q|RP1-127D3.4_ENST00000422841.1_RNA|RP1-127D3.4_ENST00000445909.1_RNA|RP1-127D3.4_ENST00000445290.1_RNA|FMO2_ENST00000529935.1_Intron						__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__								__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__		CAACTCCTATTAGTATCGCCT	0.456359102244389	__UNKNOWN__	__UNKNOWN__								__UNKNOWN__	__UNKNOWN__	__UNKNOWN__																																																											true	false	0.9537,0.04633	false	false	1		false	true	false	FMO2:2327	true	true	false	true	true	false	false	false	false	false	false	false	true	false	false	true	true	false	false	true	false	false	0	true	0	false		false	true	false	SNV	0x05012880060515053f000100	1	false	116	rs6661174		171178090	true																																														
 FMO2		__UNKNOWN__	hg19	1	171178090	171178090	+	Nonstop_Mutation	SNP	T	T	C	6661174	byFrequency;by1000genomes	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	NA	NA	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	g.chr1:171178090T>C	ENST00000209929.7	+	9	1572	c.1414T>C	c.(1414-1416)Tag>Cag	p.*472Q	FMO2_ENST00000441535.1_Nonstop_Mutation_p.*472Q|RP1-127D3.4_ENST00000422841.1_RNA|RP1-127D3.4_ENST00000445909.1_RNA|RP1-127D3.4_ENST00000445290.1_RNA|FMO2_ENST00000529935.1_Intron						__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__								__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__		CAACTCCTATTAGTATCGCCT	0.456359102244389	__UNKNOWN__	__UNKNOWN__								__UNKNOWN__	__UNKNOWN__	__UNKNOWN__																																																											true	false	0.9537,0.04633	false	false	1		false	true	false	FMO2:2327	true	true	false	true	true	false	false	false	false	false	false	false	true	false	false	true	true	false	false	true	false	false	0	true	0	false		false	true	false	SNV	0x05012880060515053f000100	1	false	116	rs6661174		171178090	true																																														
@@ -1375,14 +1375,14 @@ ASPM		__UNKNOWN__	hg19	1	197057491	197057492	+	Frame_Shift_Ins	INS	-	-	CC			__UN
 CR1		__UNKNOWN__	hg19	1	207700162	207700163	+	Frame_Shift_Ins	INS	-	-	AGAT			__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	NA	NA	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	g.chr1:207700162_207700163insAGAT	ENST00000367049.4	+	6	951	c.951_952insAGAT	c.(952-954)cctfs	p.P318fs	CR1_ENST00000367052.1_Frame_Shift_Ins_p.P318fs|CR1_ENST00000367053.1_Frame_Shift_Ins_p.P318fs|CR1_ENST00000400960.2_Frame_Shift_Ins_p.P318fs|CR1_ENST00000367051.1_Intron|CR1_ENST00000367050.4_Intron						__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__								__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__		CAACTTTTCACCTGGGCAGG	0.445	__UNKNOWN__	__UNKNOWN__								__UNKNOWN__	__UNKNOWN__	__UNKNOWN__																																																											false	false		false	false			false	false	false		false	false	false	false	false	false	false	false	false	false	false	false	false	false	false	false	false	false	false	false	false	false		false		false		false	false	false				false					false																																														
 G0S2		__UNKNOWN__	hg19	1	209849340	209849340	+	Nonstop_Mutation	SNP	A	A	G			__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	NA	NA	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	g.chr1:209849340A>G	ENST00000367029.4	+	2	473	c.311A>G	c.(310-312)tAg>tGg	p.*104W	RP1-28O10.1_ENST00000441672.1_RNA|RP1-28O10.1_ENST00000445272.1_5'Flank						__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__								__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__		CACGCCTCCTAGGAACTGTGG	0.6309226932668329	__UNKNOWN__	__UNKNOWN__								__UNKNOWN__	__UNKNOWN__	__UNKNOWN__																																																											false	false		false	false			false	false	false		false	false	false	false	false	false	false	false	false	false	false	false	false	false	false	false	false	false	false	false	false	false		false		false		false	false	false				false					false																																														
 TRAF3IP3		__UNKNOWN__	hg19	1	209932121	209932121	+	DE_NOVO_START_OUT_FRAME	SNP	C	C	T	10489341	byFrequency;by1000genomes	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	NA	NA	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	g.chr1:209932121C>T	ENST00000367024.1	+	1					TRAF3IP3_ENST00000367025.3_Intron|TRAF3IP3_ENST00000367026.3_Intron|TRAF3IP3_ENST00000400959.3_Intron|TRAF3IP3_ENST00000010338.4_5'Flank						__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__								__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__		GAATTTCCAACGCTCAGGATC	0.5236907730673317	__UNKNOWN__	__UNKNOWN__								__UNKNOWN__	__UNKNOWN__	__UNKNOWN__																																																											true	false	0.8838,0.1162	false	false	1		false	true	false	TRAF3IP3:80342	true	true	true	true	true	false	false	false	false	false	false	false	false	false	false	true	true	false	false	false	false	false	0	true	0	false	0.849876,0.150124	false	false	true	SNV	0x05012848000515053f000100	1	false	119	rs10489341		209932121	true																																														
-SPATA17		__UNKNOWN__	hg19	1	217804722	217804722	+	START_CODON_SNP	SNP	T	T	C			__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	NA	NA	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	g.chr1:217804722T>C	ENST00000366933.4	+	1	57	c.2T>C	c.(1-3)aTg>aCg	p.M1T							__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__								__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__		CAAGAGACCATGGCCACGTTA	0.43640897755610975	__UNKNOWN__	__UNKNOWN__								__UNKNOWN__	__UNKNOWN__	__UNKNOWN__																																																											false	false		false	false			false	false	false		false	false	false	false	false	false	false	false	false	false	false	false	false	false	false	false	false	false	false	false	false	false		false		false		false	false	false				false					false																																														
+SPATA17		__UNKNOWN__	hg19	1	217804722	217804722	+	START_CODON_SNP	SNP	T	T	C			__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	NA	NA	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	g.chr1:217804722T>C	ENST00000366933.4	+	1	57	c.2T>C	c.(1-3)aTg>aCg	p.M1T	GPATCH2_ENST00000366934.3_5'Flank|GPATCH2_ENST00000366935.3_5'Flank						__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__								__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__		CAAGAGACCATGGCCACGTTA	0.43640897755610975	__UNKNOWN__	__UNKNOWN__								__UNKNOWN__	__UNKNOWN__	__UNKNOWN__																																																											false	false		false	false			false	false	false		false	false	false	false	false	false	false	false	false	false	false	false	false	false	false	false	false	false	false	false	false	false		false		false		false	false	false				false					false																																														
 DNAH14		__UNKNOWN__	hg19	1	225586971	225586971	+	Nonstop_Mutation	SNP	A	A	T			__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	NA	NA	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	g.chr1:225586971A>T	ENST00000445597.2	+	61	10524	c.10524A>T	c.(10522-10524)taA>taT	p.*3508Y	DNAH14_ENST00000439375.2_Nonstop_Mutation_p.*4516Y|DNAH14_ENST00000430092.1_Nonstop_Mutation_p.*4516Y						__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__								__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__		ATGAAAAATAAATGTCCATAT	0.3790523690773067	__UNKNOWN__	__UNKNOWN__								__UNKNOWN__	__UNKNOWN__	__UNKNOWN__																																																											false	false		false	false			false	false	false		false	false	false	false	false	false	false	false	false	false	false	false	false	false	false	false	false	false	false	false	false	false		false		false		false	false	false				false					false																																														
-MRPL55		__UNKNOWN__	hg19	1	228295961	228295961	+	START_CODON_SNP	SNP	T	T	G	140581823	byFrequency	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	NA	NA	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	g.chr1:228295961T>G	ENST00000411464.2	-	3	795	c.1A>C	c.(1-3)Atg>Ctg	p.M1L	MRPL55_ENST00000366735.1_START_CODON_SNP_p.M1L|MRPL55_ENST00000366734.1_START_CODON_SNP_p.M1L|MRPL55_ENST00000366733.1_START_CODON_SNP_p.M1L|MRPL55_ENST00000336520.3_START_CODON_SNP_p.M1L|MRPL55_ENST00000366744.1_START_CODON_SNP_p.M1L|MRPL55_ENST00000336300.5_START_CODON_SNP_p.M1L|MRPL55_ENST00000348259.5_START_CODON_SNP_p.M1L|MRPL55_ENST00000366736.1_START_CODON_SNP_p.M1L|MRPL55_ENST00000366740.1_START_CODON_SNP_p.M1L|MRPL55_ENST00000366739.1_START_CODON_SNP_p.M1L|MRPL55_ENST00000295008.4_START_CODON_SNP_p.M1L|MRPL55_ENST00000366742.1_START_CODON_SNP_p.M1L|MRPL55_ENST00000366741.1_START_CODON_SNP_p.M1L|MRPL55_ENST00000366747.3_START_CODON_SNP_p.M1L|MRPL55_ENST00000366746.3_START_CODON_SNP_p.M1L|MRPL55_ENST00000366732.1_START_CODON_SNP_p.M1L|MRPL55_ENST00000366738.1_START_CODON_SNP_p.M1L|MRPL55_ENST00000391867.3_START_CODON_SNP_p.M1L|MRPL55_ENST00000366731.5_START_CODON_SNP_p.M1L|MRPL55_ENST00000430433.1_START_CODON_SNP_p.M1L|MRPL55_ENST00000465397.1_Intron						__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__								__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__		ACGGCCGCCATTCCTCCTTAC	0.5536159600997507	__UNKNOWN__	__UNKNOWN__								__UNKNOWN__	__UNKNOWN__	__UNKNOWN__																																																											true	false		false	false			false	false	false	MRPL55:128308	false	true	false	false	false	false	false	false	false	false	false	true	false	false	false	false	false	false	false	true	false	false	0	false	0	false		false	false	false	SNV	0x050000000a05040402000100	1	false	134	rs140581823		228295961	true																																														
-MRPL55		__UNKNOWN__	hg19	1	228296020	228296020	+	DE_NOVO_START_IN_FRAME	SNP	C	C	A	868542799		__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	NA	NA	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	g.chr1:228296020C>A	ENST00000366735.1	-	1					MRPL55_ENST00000366734.1_DE_NOVO_START_IN_FRAME|MRPL55_ENST00000366740.1_DE_NOVO_START_IN_FRAME|MRPL55_ENST00000366742.1_DE_NOVO_START_IN_FRAME|MRPL55_ENST00000411464.2_Splice_Site|MRPL55_ENST00000366733.1_Splice_Site|MRPL55_ENST00000336520.3_Splice_Site|MRPL55_ENST00000366744.1_Splice_Site|MRPL55_ENST00000336300.5_Splice_Site|MRPL55_ENST00000348259.5_Splice_Site|MRPL55_ENST00000366736.1_Splice_Site|MRPL55_ENST00000366739.1_Splice_Site|MRPL55_ENST00000295008.4_Splice_Site|MRPL55_ENST00000366741.1_Splice_Site|MRPL55_ENST00000366747.3_Splice_Site|MRPL55_ENST00000366746.3_Splice_Site|MRPL55_ENST00000366732.1_Splice_Site|MRPL55_ENST00000366738.1_Splice_Site|MRPL55_ENST00000391867.3_DE_NOVO_START_IN_FRAME|MRPL55_ENST00000366731.5_Splice_Site|MRPL55_ENST00000430433.1_Splice_Site|MRPL55_ENST00000465397.1_Splice_Site						__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__								__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__		GGCGTGCAACCTGCTAGGCAG	0.5286783042394015	__UNKNOWN__	__UNKNOWN__								__UNKNOWN__	__UNKNOWN__	__UNKNOWN__																																																											true	true		false	false			false	false	false	MRPL55:128308	false	true	false	false	false	false	false	false	false	false	false	false	false	false	false	false	false	false	false	false	false	false	0	false	0	false	0.999931,6.86908e-005	false	false	true	SNV	0x050000600005000402000100	1	false	147	rs868542799		228296020	false																																														
+MRPL55		__UNKNOWN__	hg19	1	228295961	228295961	+	START_CODON_SNP	SNP	T	T	G	140581823	byFrequency	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	NA	NA	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	g.chr1:228295961T>G	ENST00000411464.2	-	3	795	c.1A>C	c.(1-3)Atg>Ctg	p.M1L	MRPL55_ENST00000366735.1_START_CODON_SNP_p.M1L|MRPL55_ENST00000366734.1_START_CODON_SNP_p.M1L|MRPL55_ENST00000366733.1_START_CODON_SNP_p.M1L|MRPL55_ENST00000336520.3_START_CODON_SNP_p.M1L|MRPL55_ENST00000366744.1_START_CODON_SNP_p.M1L|MRPL55_ENST00000336300.5_START_CODON_SNP_p.M1L|MRPL55_ENST00000348259.5_START_CODON_SNP_p.M1L|MRPL55_ENST00000366736.1_START_CODON_SNP_p.M1L|MRPL55_ENST00000366740.1_START_CODON_SNP_p.M1L|MRPL55_ENST00000366739.1_START_CODON_SNP_p.M1L|MRPL55_ENST00000295008.4_START_CODON_SNP_p.M1L|MRPL55_ENST00000366742.1_START_CODON_SNP_p.M1L|MRPL55_ENST00000366741.1_START_CODON_SNP_p.M1L|MRPL55_ENST00000366747.3_START_CODON_SNP_p.M1L|MRPL55_ENST00000366746.3_START_CODON_SNP_p.M1L|MRPL55_ENST00000366732.1_START_CODON_SNP_p.M1L|MRPL55_ENST00000366738.1_START_CODON_SNP_p.M1L|MRPL55_ENST00000391867.3_START_CODON_SNP_p.M1L|MRPL55_ENST00000366731.5_START_CODON_SNP_p.M1L|MRPL55_ENST00000430433.1_START_CODON_SNP_p.M1L|C1orf35_ENST00000272139.4_5'Flank|C1orf35_ENST00000472617.1_5'Flank|MRPL55_ENST00000465397.1_Intron						__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__								__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__		ACGGCCGCCATTCCTCCTTAC	0.5536159600997507	__UNKNOWN__	__UNKNOWN__								__UNKNOWN__	__UNKNOWN__	__UNKNOWN__																																																											true	false		false	false			false	false	false	MRPL55:128308	false	true	false	false	false	false	false	false	false	false	false	true	false	false	false	false	false	false	false	true	false	false	0	false	0	false		false	false	false	SNV	0x050000000a05040402000100	1	false	134	rs140581823		228295961	true																																														
+MRPL55		__UNKNOWN__	hg19	1	228296020	228296020	+	DE_NOVO_START_IN_FRAME	SNP	C	C	A	868542799		__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	NA	NA	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	g.chr1:228296020C>A	ENST00000366735.1	-	1					MRPL55_ENST00000366734.1_DE_NOVO_START_IN_FRAME|MRPL55_ENST00000366740.1_DE_NOVO_START_IN_FRAME|MRPL55_ENST00000366742.1_DE_NOVO_START_IN_FRAME|MRPL55_ENST00000411464.2_Splice_Site|MRPL55_ENST00000366733.1_Splice_Site|MRPL55_ENST00000336520.3_Splice_Site|MRPL55_ENST00000366744.1_Splice_Site|MRPL55_ENST00000336300.5_Splice_Site|MRPL55_ENST00000348259.5_Splice_Site|MRPL55_ENST00000366736.1_Splice_Site|MRPL55_ENST00000366739.1_Splice_Site|MRPL55_ENST00000295008.4_Splice_Site|MRPL55_ENST00000366741.1_Splice_Site|MRPL55_ENST00000366747.3_Splice_Site|MRPL55_ENST00000366746.3_Splice_Site|MRPL55_ENST00000366732.1_Splice_Site|MRPL55_ENST00000366738.1_Splice_Site|MRPL55_ENST00000391867.3_DE_NOVO_START_IN_FRAME|MRPL55_ENST00000366731.5_Splice_Site|MRPL55_ENST00000430433.1_Splice_Site|C1orf35_ENST00000272139.4_5'Flank|C1orf35_ENST00000472617.1_5'Flank|MRPL55_ENST00000465397.1_Splice_Site						__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__								__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__		GGCGTGCAACCTGCTAGGCAG	0.5286783042394015	__UNKNOWN__	__UNKNOWN__								__UNKNOWN__	__UNKNOWN__	__UNKNOWN__																																																											true	true		false	false			false	false	false	MRPL55:128308	false	true	false	false	false	false	false	false	false	false	false	false	false	false	false	false	false	false	false	false	false	false	0	false	0	false	0.999931,6.86908e-005	false	false	true	SNV	0x050000600005000402000100	1	false	147	rs868542799		228296020	false																																														
 C1orf198		__UNKNOWN__	hg19	1	230979415	230979415	+	DE_NOVO_START_OUT_FRAME	SNP	C	C	A			__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	NA	NA	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	g.chr1:230979415C>A	ENST00000427697.2	-	3					C1orf198_ENST00000366663.5_Missense_Mutation_p.E204D|C1orf198_ENST00000470540.1_Missense_Mutation_p.E166D|C1orf198_ENST00000523410.1_Missense_Mutation_p.E74D						__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__								__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__		GGAACTCGGCCTCAGGCCCCT	0.6458852867830424	__UNKNOWN__	__UNKNOWN__								__UNKNOWN__	__UNKNOWN__	__UNKNOWN__																																																											false	false		false	false			false	false	false		false	false	false	false	false	false	false	false	false	false	false	false	false	false	false	false	false	false	false	false	false	false		false		false		false	false	false				false					false																																														
 SIPA1L2		__UNKNOWN__	hg19	1	232651063	232651064	+	Frame_Shift_Ins	INS	-	-	AGAA			__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	NA	NA	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	g.chr1:232651063_232651064insAGAA	ENST00000366630.1	-	2	382	c.22_23insTTCT	c.(22-24)caafs	p.Q8fs	SIPA1L2_ENST00000262861.4_Frame_Shift_Ins_p.Q8fs						__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__								__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__		TTCTCTTCTTGTGACTGCCT	0.4425	__UNKNOWN__	__UNKNOWN__								__UNKNOWN__	__UNKNOWN__	__UNKNOWN__																																																											false	false		false	false			false	false	false		false	false	false	false	false	false	false	false	false	false	false	false	false	false	false	false	false	false	false	false	false	false		false		false		false	false	false				false					false																																														
 MAP10		__UNKNOWN__	hg19	1	232940993	232940994	+	Frame_Shift_Ins	INS	-	-	CAAAGCAG			__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	NA	NA	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	g.chr1:232940993_232940994insCAAAGCAG	ENST00000418460.1	+	1	351	c.224_225insCAAAGCAG	c.(223-225)gctfs	p.H76fs							__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__								__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__		AAAAAACGGCTCACAAGTAT	0.4925	__UNKNOWN__	__UNKNOWN__								__UNKNOWN__	__UNKNOWN__	__UNKNOWN__																																																											false	false		false	false			false	false	false		false	false	false	false	false	false	false	false	false	false	false	false	false	false	false	false	false	false	false	false	false	false		false		false		false	false	false				false					false																																														
-RBM34		__UNKNOWN__	hg19	1	235295173	235295174	+	Frame_Shift_Ins	INS	-	-	TA			__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	NA	NA	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	g.chr1:235295173_235295174insTA	ENST00000408888.3	-	11	1379	c.1147_1148insTA	c.(1147-1149)cctfs	p.P383fs	RBM34_ENST00000366606.3_Frame_Shift_Ins_p.P378fs|RBM34_ENST00000495224.1_Intron						__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__								__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__		CCCTGCTTAGGTTTACTGAC	0.3475	__UNKNOWN__	__UNKNOWN__								__UNKNOWN__	__UNKNOWN__	__UNKNOWN__																																																											false	false		false	false			false	false	false		false	false	false	false	false	false	false	false	false	false	false	false	false	false	false	false	false	false	false	false	false	false		false		false		false	false	false				false					false																																														
+RBM34		__UNKNOWN__	hg19	1	235295173	235295174	+	Frame_Shift_Ins	INS	-	-	TA			__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	NA	NA	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	g.chr1:235295173_235295174insTA	ENST00000408888.3	-	11	1379	c.1147_1148insTA	c.(1147-1149)cctfs	p.P383fs	RBM34_ENST00000366606.3_Frame_Shift_Ins_p.P378fs|TOMM20_ENST00000366607.4_5'Flank|RBM34_ENST00000495224.1_Intron|SNORA14B_ENST00000384452.1_5'Flank						__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__								__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__		CCCTGCTTAGGTTTACTGAC	0.3475	__UNKNOWN__	__UNKNOWN__								__UNKNOWN__	__UNKNOWN__	__UNKNOWN__																																																											false	false		false	false			false	false	false		false	false	false	false	false	false	false	false	false	false	false	false	false	false	false	false	false	false	false	false	false	false		false		false		false	false	false				false					false																																														
 KMO		__UNKNOWN__	hg19	1	241755453	241755453	+	Nonstop_Mutation	SNP	T	T	C			__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	NA	NA	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	g.chr1:241755453T>C	ENST00000366559.4	+	15	1770	c.1459T>C	c.(1459-1461)Tga>Cga	p.*487R	KMO_ENST00000366557.4_Nonstop_Mutation_p.*453R|KMO_ENST00000366558.3_Nonstop_Mutation_p.*474R						__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__								__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__		CATTAGCAGGTGATAGAAAGG	0.39650872817955113	__UNKNOWN__	__UNKNOWN__								__UNKNOWN__	__UNKNOWN__	__UNKNOWN__																																																											false	false		false	false			false	false	false		false	false	false	false	false	false	false	false	false	false	false	false	false	false	false	false	false	false	false	false	false	false		false		false		false	false	false				false					false																																														
 WDR64		__UNKNOWN__	hg19	1	241964517	241964517	+	Nonstop_Mutation	SNP	A	A	C			__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	NA	NA	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	g.chr1:241964517A>C	ENST00000366552.2	+	27	3453	c.3246A>C	c.(3244-3246)taA>taC	p.*1082Y	WDR64_ENST00000437684.2_Nonstop_Mutation_p.*915Y						__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__								__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__		TACCCAAGTAAGGAGAAAAAA	0.4014962593516209	__UNKNOWN__	__UNKNOWN__								__UNKNOWN__	__UNKNOWN__	__UNKNOWN__																																																											false	false		false	false			false	false	false		false	false	false	false	false	false	false	false	false	false	false	false	false	false	false	false	false	false	false	false	false	false		false		false		false	false	false				false					false																																														
 TRIM58		__UNKNOWN__	hg19	1	248039789	248039789	+	Nonstop_Mutation	SNP	T	T	C			__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	NA	NA	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	g.chr1:248039789T>C	ENST00000366481.3	+	6	1507	c.1459T>C	c.(1459-1461)Taa>Caa	p.*487Q	OR2W3_ENST00000537741.1_Intron						__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__								__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__		TGATCATCTCTAAAATTCTGT	0.39650872817955113	__UNKNOWN__	__UNKNOWN__								__UNKNOWN__	__UNKNOWN__	__UNKNOWN__																																																											false	false		false	false			false	false	false		false	false	false	false	false	false	false	false	false	false	false	false	false	false	false	false	false	false	false	false	false	false		false		false		false	false	false				false					false																																														
@@ -1398,7 +1398,7 @@ PCDH15		__UNKNOWN__	hg19	10	55955567	55955567	+	DE_NOVO_START_OUT_FRAME	SNP	T	T
 DNA2		__UNKNOWN__	hg19	10	70182529	70182530	+	Frame_Shift_Ins	INS	-	-	AG			__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	NA	NA	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	g.chr10:70182529_70182530insAG	ENST00000358410.3	-	15	2378	c.2326_2327insCT	c.(2326-2328)cttfs	p.L776fs	DNA2_ENST00000399180.2_Frame_Shift_Ins_p.L862fs|DNA2_ENST00000399179.2_Intron						__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__								__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__		GAAAAAAAAAGGGGGCCCAG	0.3525	__UNKNOWN__	__UNKNOWN__								__UNKNOWN__	__UNKNOWN__	__UNKNOWN__																																																											false	false		false	false			false	false	false		false	false	false	false	false	false	false	false	false	false	false	false	false	false	false	false	false	false	false	false	false	false		false		false		false	false	false				false					false																																														
 LIPA		__UNKNOWN__	hg19	10	90988034	90988035	+	Frame_Shift_Ins	INS	-	-	GG			__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	NA	NA	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	g.chr10:90988034_90988035insGG	ENST00000336233.5	-	4	674	c.350_351insCC	c.(349-351)atgfs	p.M117fs	LIPA_ENST00000456827.1_Frame_Shift_Ins_p.M117fs|LIPA_ENST00000371837.1_Frame_Shift_Ins_p.M61fs						__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__								__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__		GCTGTTGCCCATCCACACGT	0.4325	__UNKNOWN__	__UNKNOWN__								__UNKNOWN__	__UNKNOWN__	__UNKNOWN__																																																											false	false		false	false			false	false	false		false	false	false	false	false	false	false	false	false	false	false	false	false	false	false	false	false	false	false	false	false	false		false		false		false	false	false				false					false																																														
 MYOF		__UNKNOWN__	hg19	10	95121241	95121242	+	Frame_Shift_Ins	INS	-	-	GT			__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	NA	NA	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	g.chr10:95121241_95121242insGT	ENST00000359263.4	-	28	2942	c.2941_2942insAC	c.(2941-2943)tctfs	p.S981fs	MYOF_ENST00000358334.5_Frame_Shift_Ins_p.S968fs|MYOF_ENST00000371501.4_Frame_Shift_Ins_p.S981fs|MYOF_ENST00000371502.4_Frame_Shift_Ins_p.S981fs						__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__								__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__		ATGTCATAAGACCATGCATC	0.47	__UNKNOWN__	__UNKNOWN__								__UNKNOWN__	__UNKNOWN__	__UNKNOWN__																																																											false	false		false	false			false	false	false		false	false	false	false	false	false	false	false	false	false	false	false	false	false	false	false	false	false	false	false	false	false		false		false		false	false	false				false					false																																														
-PKD2L1		__UNKNOWN__	hg19	10	102048159	102048160	+	Frame_Shift_Ins	INS	-	-	A			__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	NA	NA	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	g.chr10:102048159_102048160insA	ENST00000318222.3	-	16	2795	c.2411_2412insT	c.(2410-2412)aggfs	p.R804fs	PKD2L1_ENST00000338519.3_Frame_Shift_Ins_p.R729fs|PKD2L1_ENST00000353274.3_3'UTR						__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__								__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__		CACTTAACTCCTCTGCAACG	0.465	__UNKNOWN__	__UNKNOWN__								__UNKNOWN__	__UNKNOWN__	__UNKNOWN__																																																											false	false		false	false			false	false	false		false	false	false	false	false	false	false	false	false	false	false	false	false	false	false	false	false	false	false	false	false	false		false		false		false	false	false				false					false																																														
+PKD2L1		__UNKNOWN__	hg19	10	102048159	102048160	+	Frame_Shift_Ins	INS	-	-	A			__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	NA	NA	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	g.chr10:102048159_102048160insA	ENST00000318222.3	-	16	2795	c.2411_2412insT	c.(2410-2412)aggfs	p.R804fs	PKD2L1_ENST00000338519.3_Frame_Shift_Ins_p.R729fs|PKD2L1_ENST00000353274.3_3'UTR|BLOC1S2_ENST00000361832.2_5'Flank|BLOC1S2_ENST00000370372.2_5'Flank|BLOC1S2_ENST00000441611.1_5'Flank						__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__								__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__		CACTTAACTCCTCTGCAACG	0.465	__UNKNOWN__	__UNKNOWN__								__UNKNOWN__	__UNKNOWN__	__UNKNOWN__																																																											false	false		false	false			false	false	false		false	false	false	false	false	false	false	false	false	false	false	false	false	false	false	false	false	false	false	false	false	false		false		false		false	false	false				false					false																																														
 FAM178A		__UNKNOWN__	hg19	10	102684419	102684420	+	Frame_Shift_Ins	INS	-	-	T			__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	NA	NA	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	g.chr10:102684419_102684420insT	ENST00000238961.4	+	5	2203	c.1661_1662insT	c.(1660-1662)aagfs	p.K554fs	FAM178A_ENST00000370269.3_Frame_Shift_Ins_p.K554fs|FAM178A_ENST00000370271.3_Frame_Shift_Ins_p.K554fs						__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__								__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__		CTCCTACAAAGTCTCCCCCT	0.4225	__UNKNOWN__	__UNKNOWN__								__UNKNOWN__	__UNKNOWN__	__UNKNOWN__																																																											false	false		false	false			false	false	false		false	false	false	false	false	false	false	false	false	false	false	false	false	false	false	false	false	false	false	false	false	false		false		false		false	false	false				false					false																																														
 EIF3A		__UNKNOWN__	hg19	10	120795682	120795705	+	In_Frame_Del	DEL	CTCGGTCTCTTG	CTCGGTCTCTTG	-	766037789		__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	NA	NA	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	g.chr10:120795682_120795693delCTCGGTCTCTTG	ENST00000369144.3	-	22	4147_4158	c.4007_4018delCAAGAGACCGAG	c.(4006-4020)tcaagagaccgagaa>taa	p.1336_1340SRDRE>*	EIF3A_ENST00000541549.1_In_Frame_Del_p.1302_1306SRDRE>*						__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__								__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__		CGGTCTCTTTCTCGGTCTCTTGAAAGAGCTGG	0.3859223300970874	__UNKNOWN__	__UNKNOWN__								__UNKNOWN__	__UNKNOWN__	__UNKNOWN__																																																											true	false		false	false			false	false	false	EIF3A:8661	false	true	false	false	false	false	false	false	false	false	false	false	false	false	false	false	false	false	false	false	false	false	0	false	0	false		false	false	false	DIV	0x050000000005000402000200	1	false	144	rs766037789		120795682	false																																														
 INPP5F		__UNKNOWN__	hg19	10	121541194	121541195	+	Frame_Shift_Ins	INS	-	-	G			__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	NA	NA	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	g.chr10:121541194_121541195insG	ENST00000361976.2	+	3	392	c.226_227insG	c.(226-228)aaafs	p.K76fs	INPP5F_ENST00000369081.1_5'UTR|INPP5F_ENST00000369083.3_Frame_Shift_Ins_p.K76fs						__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__								__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__		TTGGTGGGCAAACTCCCAGG	0.3625	__UNKNOWN__	__UNKNOWN__								__UNKNOWN__	__UNKNOWN__	__UNKNOWN__																																																											false	false		false	false			false	false	false		false	false	false	false	false	false	false	false	false	false	false	false	false	false	false	false	false	false	false	false	false	false		false		false		false	false	false				false					false																																														
@@ -1413,12 +1413,12 @@ STIP1		__UNKNOWN__	hg19	11	63953121	63953121	+	DE_NOVO_START_IN_FRAME	SNP	G	G	T
 UVRAG		__UNKNOWN__	hg19	11	75694488	75694488	+	DE_NOVO_START_IN_FRAME	SNP	C	C	T			__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	NA	NA	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	g.chr11:75694488C>T	ENST00000533454.1	+	3					UVRAG_ENST00000356136.3_Missense_Mutation_p.R253W|UVRAG_ENST00000531818.1_DE_NOVO_START_OUT_FRAME|UVRAG_ENST00000532130.1_DE_NOVO_START_OUT_FRAME|UVRAG_ENST00000528420.1_Missense_Mutation_p.R152W|UVRAG_ENST00000539288.1_DE_NOVO_START_IN_FRAME						__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__								__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__		TGAACTGGAACGGCAGAAGAA	0.32169576059850374	__UNKNOWN__	__UNKNOWN__								__UNKNOWN__	__UNKNOWN__	__UNKNOWN__																																																											false	false		false	false			false	false	false		false	false	false	false	false	false	false	false	false	false	false	false	false	false	false	false	false	false	false	false	false	false		false		false		false	false	false				false					false																																														
 UVRAG		__UNKNOWN__	hg19	11	75694530	75694530	+	DE_NOVO_START_OUT_FRAME	SNP	A	A	G			__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	NA	NA	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	g.chr11:75694530A>G	ENST00000533454.1	+	3					UVRAG_ENST00000356136.3_Missense_Mutation_p.K267E|UVRAG_ENST00000531818.1_DE_NOVO_START_OUT_FRAME|UVRAG_ENST00000532130.1_DE_NOVO_START_OUT_FRAME|UVRAG_ENST00000539288.1_DE_NOVO_START_OUT_FRAME|UVRAG_ENST00000528420.1_Missense_Mutation_p.K166E						__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__								__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__		ATTACTGCATAAGCAACAAAT	0.34413965087281795	__UNKNOWN__	__UNKNOWN__								__UNKNOWN__	__UNKNOWN__	__UNKNOWN__																																																											false	false		false	false			false	false	false		false	false	false	false	false	false	false	false	false	false	false	false	false	false	false	false	false	false	false	false	false	false		false		false		false	false	false				false					false																																														
 NARS2		__UNKNOWN__	hg19	11	78282425	78282425	+	DE_NOVO_START_OUT_FRAME	SNP	G	G	C			__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	NA	NA	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	g.chr11:78282425G>C	ENST00000528850.1	-	2					NARS2_ENST00000281038.5_Missense_Mutation_p.S69C						__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__								__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__		GCTTTCCAAAGATGACCCATC	0.3790523690773067	__UNKNOWN__	__UNKNOWN__								__UNKNOWN__	__UNKNOWN__	__UNKNOWN__																																																											false	false		false	false			false	false	false		false	false	false	false	false	false	false	false	false	false	false	false	false	false	false	false	false	false	false	false	false	false		false		false		false	false	false				false					false																																														
-C11orf1		__UNKNOWN__	hg19	11	111753117	111753118	+	Frame_Shift_Ins	INS	-	-	GT			__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	NA	NA	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	g.chr11:111753117_111753118insGT	ENST00000530214.1	+	2	90	c.71_72insGT	c.(70-72)acafs	p.N25fs	C11orf1_ENST00000528125.1_5'UTR|C11orf1_ENST00000260276.3_Frame_Shift_Ins_p.N25fs|C11orf1_ENST00000529270.1_Frame_Shift_Ins_p.N65fs						__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__								__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__		GTTTCCTCACAAACCCACAC	0.4425	__UNKNOWN__	__UNKNOWN__								__UNKNOWN__	__UNKNOWN__	__UNKNOWN__																																																											false	false		false	false			false	false	false		false	false	false	false	false	false	false	false	false	false	false	false	false	false	false	false	false	false	false	false	false	false		false		false		false	false	false				false					false																																														
+C11orf1		__UNKNOWN__	hg19	11	111753117	111753118	+	Frame_Shift_Ins	INS	-	-	GT			__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	NA	NA	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	g.chr11:111753117_111753118insGT	ENST00000530214.1	+	2	90	c.71_72insGT	c.(70-72)acafs	p.N25fs	C11orf1_ENST00000528125.1_5'UTR|C11orf1_ENST00000260276.3_Frame_Shift_Ins_p.N25fs|C11orf1_ENST00000529270.1_Frame_Shift_Ins_p.N65fs|FDXACB1_ENST00000260257.4_5'Flank|ALG9_ENST00000524880.1_5'Flank|FDXACB1_ENST00000542429.1_5'Flank						__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__								__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__		GTTTCCTCACAAACCCACAC	0.4425	__UNKNOWN__	__UNKNOWN__								__UNKNOWN__	__UNKNOWN__	__UNKNOWN__																																																											false	false		false	false			false	false	false		false	false	false	false	false	false	false	false	false	false	false	false	false	false	false	false	false	false	false	false	false	false		false		false		false	false	false				false					false																																														
 TMPRSS5		__UNKNOWN__	hg19	11	113565234	113565234	+	DE_NOVO_START_OUT_FRAME	SNP	G	G	A			__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	NA	NA	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	g.chr11:113565234G>A	ENST00000536856.1	-	6					TMPRSS5_ENST00000299882.5_Missense_Mutation_p.R251C|TMPRSS5_ENST00000540540.1_DE_NOVO_START_OUT_FRAME|TMPRSS5_ENST00000545579.1_Missense_Mutation_p.R242C|TMPRSS5_ENST00000538955.1_Missense_Mutation_p.R207C|TMPRSS5_ENST00000544634.1_Intron|TMPRSS5_ENST00000544476.1_Intron|TMPRSS5_ENST00000545265.1_5'Flank						__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__								__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__		ACCACCCAGCGTGGCGCTAGC	0.5586034912718204	__UNKNOWN__	__UNKNOWN__								__UNKNOWN__	__UNKNOWN__	__UNKNOWN__																																																											false	false		false	false			false	false	false		false	false	false	false	false	false	false	false	false	false	false	false	false	false	false	false	false	false	false	false	false	false		false		false		false	false	false				false					false																																														
 TMPRSS5		__UNKNOWN__	hg19	11	113565260	113565260	+	DE_NOVO_START_IN_FRAME	SNP	G	G	A			__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	NA	NA	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	g.chr11:113565260G>A	ENST00000536856.1	-	6					TMPRSS5_ENST00000299882.5_Missense_Mutation_p.T242M|TMPRSS5_ENST00000545579.1_Missense_Mutation_p.T233M|TMPRSS5_ENST00000540540.1_DE_NOVO_START_IN_FRAME|TMPRSS5_ENST00000538955.1_Missense_Mutation_p.T198M|TMPRSS5_ENST00000544634.1_Intron|TMPRSS5_ENST00000544476.1_Intron|TMPRSS5_ENST00000545265.1_5'Flank						__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__								__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__		GCCCCCACACGTGTGCCGGAA	0.5760598503740648	__UNKNOWN__	__UNKNOWN__								__UNKNOWN__	__UNKNOWN__	__UNKNOWN__																																																											false	false		false	false			false	false	false		false	false	false	false	false	false	false	false	false	false	false	false	false	false	false	false	false	false	false	false	false	false		false		false		false	false	false				false					false																																														
 TAS2R43		__UNKNOWN__	hg19	12	11243924	11243935	+	In_Frame_Del	DEL	TTCACC	TTCACC	-	867813065		__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	NA	NA	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	g.chr12:11243924_11243929delTTCACC	ENST00000531678.1	-	1	990_995	c.900_905delGGTGAA	c.(898-906)tgggtgaaa>tga	p.300_302WVK>*	TAS2R14_ENST00000381852.4_Intron|PRR4_ENST00000536668.1_Intron						__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__								__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__		CTTCTCTCCTTTCACCCAGTACCTCA	0.35714285714285715	__UNKNOWN__	__UNKNOWN__								__UNKNOWN__	__UNKNOWN__	__UNKNOWN__																																																											true	false		false	false			false	false	false	PRH1-TAS2R14:106707243|TAS2R43:259289|PRH1:5554|PRH1-PRR4:100533464	false	true	true	false	false	false	false	false	true	false	false	false	false	false	false	false	false	false	false	false	false	false	0	false	0	false		false	false	false	DIV	0x050000080005000402000210	1	false	147	rs867813065		11243924	false																																														
 OVCH1		__UNKNOWN__	hg19	12	29597130	29597131	+	Frame_Shift_Ins	INS	-	-	A			__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	NA	NA	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	g.chr12:29597130_29597131insA	ENST00000318184.5	-	24	2965	c.2964_2965insT	c.(2965-2967)aagfs	p.K989fs	OVCH1-AS1_ENST00000551108.1_Intron|OVCH1-AS1_ENST00000549411.1_Intron						__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__								__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__		CTTCTGGCTTGGTCAGAAGA	0.3825	__UNKNOWN__	__UNKNOWN__								__UNKNOWN__	__UNKNOWN__	__UNKNOWN__																																																											false	false		false	false			false	false	false		false	false	false	false	false	false	false	false	false	false	false	false	false	false	false	false	false	false	false	false	false	false		false		false		false	false	false				false					false																																														
-SCN8A		__UNKNOWN__	hg19	12	52201139	52201140	+	Frame_Shift_Ins	INS	-	-	C			__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	NA	NA	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	g.chr12:52201139_52201140insC	ENST00000354534.6	+	27	6047	c.5869_5870insC	c.(5869-5871)aaafs	p.K1957fs	SCN8A_ENST00000545061.1_Frame_Shift_Ins_p.K1916fs						__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__								__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__		GAAAAGGAGAAACAGCAGCG	0.465	__UNKNOWN__	__UNKNOWN__								__UNKNOWN__	__UNKNOWN__	__UNKNOWN__																																																											false	false		false	false			false	false	false		false	false	false	false	false	false	false	false	false	false	false	false	false	false	false	false	false	false	false	false	false	false		false		false		false	false	false				false					false																																														
+SCN8A		__UNKNOWN__	hg19	12	52201139	52201140	+	Frame_Shift_Ins	INS	-	-	C			__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	NA	NA	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	g.chr12:52201139_52201140insC	ENST00000354534.6	+	27	6047	c.5869_5870insC	c.(5869-5871)aaafs	p.K1957fs	SCN8A_ENST00000545061.1_Frame_Shift_Ins_p.K1916fs|AC068987.1_ENST00000599343.1_5'Flank						__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__								__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__		GAAAAGGAGAAACAGCAGCG	0.465	__UNKNOWN__	__UNKNOWN__								__UNKNOWN__	__UNKNOWN__	__UNKNOWN__																																																											false	false		false	false			false	false	false		false	false	false	false	false	false	false	false	false	false	false	false	false	false	false	false	false	false	false	false	false	false		false		false		false	false	false				false					false																																														
 C12orf10		__UNKNOWN__	hg19	12	53699726	53699727	+	Frame_Shift_Ins	INS	-	-	A			__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	NA	NA	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	g.chr12:53699726_53699727insA	ENST00000549488.1	+	2	205	c.35_36insA	c.(34-36)gtgfs	p.D13fs	C12orf10_ENST00000267103.5_Frame_Shift_Ins_p.D176fs|C12orf10_ENST00000548632.1_Intron						__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__								__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__		TGGATGCTGTGGACAATGGG	0.515	__UNKNOWN__	__UNKNOWN__								__UNKNOWN__	__UNKNOWN__	__UNKNOWN__																																																											false	false		false	false			false	false	false		false	false	false	false	false	false	false	false	false	false	false	false	false	false	false	false	false	false	false	false	false	false		false		false		false	false	false				false					false																																														
 HOXC8		__UNKNOWN__	hg19	12	54405153	54405154	+	Frame_Shift_Ins	INS	-	-	C			__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	NA	NA	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	g.chr12:54405153_54405154insC	ENST00000040584.4	+	2	954	c.717_718insC	c.(718-720)aacfs	p.N240fs	RP11-834C11.12_ENST00000513209.1_Intron|HOXC6_ENST00000394331.3_5'Flank						__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__								__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__		AAAGGAAGAAAACAAGGACT	0.44	__UNKNOWN__	__UNKNOWN__								__UNKNOWN__	__UNKNOWN__	__UNKNOWN__																																																											false	false		false	false			false	false	false		false	false	false	false	false	false	false	false	false	false	false	false	false	false	false	false	false	false	false	false	false	false		false		false		false	false	false				false					false																																														
 MUCL1		__UNKNOWN__	hg19	12	55248357	55248357	+	DE_NOVO_START_OUT_FRAME	SNP	G	G	T			__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	NA	NA	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	g.chr12:55248357G>T	ENST00000308796.6	+	1					MUCL1_ENST00000546809.1_Intron|MUCL1_ENST00000547990.1_Intron						__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__								__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__		CTGATCTTCAGGTCACCACCA	0.44389027431421446	__UNKNOWN__	__UNKNOWN__								__UNKNOWN__	__UNKNOWN__	__UNKNOWN__																																																											false	false		false	false			false	false	false		false	false	false	false	false	false	false	false	false	false	false	false	false	false	false	false	false	false	false	false	false	false		false		false		false	false	false				false					false																																														
@@ -1426,11 +1426,11 @@ MDM1		__UNKNOWN__	hg19	12	68719304	68719304	+	DE_NOVO_START_OUT_FRAME	SNP	T	T	C
 UHRF1BP1L		__UNKNOWN__	hg19	12	100452662	100452663	+	Frame_Shift_Ins	INS	-	-	A			__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	NA	NA	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	g.chr12:100452662_100452663insA	ENST00000279907.7	-	14	2606	c.2392_2393insT	c.(2392-2394)cctfs	p.P798fs	UHRF1BP1L_ENST00000545232.2_Frame_Shift_Ins_p.P448fs						__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__								__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__		GACGAGGAAGGGGAAAATCT	0.4025	__UNKNOWN__	__UNKNOWN__								__UNKNOWN__	__UNKNOWN__	__UNKNOWN__																																																											false	false		false	false			false	false	false		false	false	false	false	false	false	false	false	false	false	false	false	false	false	false	false	false	false	false	false	false	false		false		false		false	false	false				false					false																																														
 ATXN2		__UNKNOWN__	hg19	12	111993688	111993688	+	DE_NOVO_START_IN_FRAME	SNP	G	G	A			__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	NA	NA	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	g.chr12:111993688G>A	ENST00000542287.2	-	2					ATXN2_ENST00000377617.3_Splice_Site_p.T256M|ATXN2_ENST00000389153.4_DE_NOVO_START_IN_FRAME|ATXN2_ENST00000608853.1_Splice_Site_p.T96M|ATXN2_ENST00000535949.1_Intron|ATXN2_ENST00000550104.1_Splice_Site_p.T256M|ATXN2_ENST00000549455.1_Intron						__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__								__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__		GTTACTCACCGTAGACTGAGG	0.32169576059850374	__UNKNOWN__	__UNKNOWN__								__UNKNOWN__	__UNKNOWN__	__UNKNOWN__																																																											false	false		false	false			false	false	false		false	false	false	false	false	false	false	false	false	false	false	false	false	false	false	false	false	false	false	false	false	false		false		false		false	false	false				false					false																																														
 PRKAB1		__UNKNOWN__	hg19	12	120111850	120111850	+	DE_NOVO_START_OUT_FRAME	SNP	C	C	T			__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	NA	NA	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	g.chr12:120111850C>T	ENST00000540121.1	+	3					PRKAB1_ENST00000229328.5_Silent_p.H135H|PRKAB1_ENST00000541640.1_Silent_p.H135H						__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__								__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__		AGTGGACGCACGACCCTTCCG	0.5361596009975063	__UNKNOWN__	__UNKNOWN__								__UNKNOWN__	__UNKNOWN__	__UNKNOWN__																																																											false	false		false	false			false	false	false		false	false	false	false	false	false	false	false	false	false	false	false	false	false	false	false	false	false	false	false	false	false		false		false		false	false	false				false					false																																														
-ZCCHC8		__UNKNOWN__	hg19	12	122977328	122977328	+	DE_NOVO_START_OUT_FRAME	SNP	A	A	C			__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	NA	NA	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	g.chr12:122977328A>C	ENST00000543897.1	-	2					ZCCHC8_ENST00000536306.1_DE_NOVO_START_OUT_FRAME|ZCCHC8_ENST00000336229.4_Missense_Mutation_p.L84W						__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__								__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__		ATCGTTCACCAATATTCCACT	0.3266832917705736	__UNKNOWN__	__UNKNOWN__								__UNKNOWN__	__UNKNOWN__	__UNKNOWN__																																																											false	false		false	false			false	false	false		false	false	false	false	false	false	false	false	false	false	false	false	false	false	false	false	false	false	false	false	false	false		false		false		false	false	false				false					false																																														
+ZCCHC8		__UNKNOWN__	hg19	12	122977328	122977328	+	DE_NOVO_START_OUT_FRAME	SNP	A	A	C			__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	NA	NA	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	g.chr12:122977328A>C	ENST00000543897.1	-	2					ZCCHC8_ENST00000536306.1_DE_NOVO_START_OUT_FRAME|ZCCHC8_ENST00000336229.4_Missense_Mutation_p.L84W|SNORA9_ENST00000516383.1_5'Flank						__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__								__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__		ATCGTTCACCAATATTCCACT	0.3266832917705736	__UNKNOWN__	__UNKNOWN__								__UNKNOWN__	__UNKNOWN__	__UNKNOWN__																																																											false	false		false	false			false	false	false		false	false	false	false	false	false	false	false	false	false	false	false	false	false	false	false	false	false	false	false	false	false		false		false		false	false	false				false					false																																														
 ZNF10		__UNKNOWN__	hg19	12	133727648	133727649	+	Frame_Shift_Ins	INS	-	-	A			__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	NA	NA	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	g.chr12:133727648_133727649insA	ENST00000248211.6	+	3	290	c.68_69insA	c.(67-69)ttcfs	p.F23fs	ZNF10_ENST00000426665.2_Frame_Shift_Ins_p.F23fs|CTD-2140B24.4_ENST00000540096.2_Frame_Shift_Ins_p.F23fs|ZNF10_ENST00000402932.2_Frame_Shift_Ins_p.F23fs|ZNF268_ENST00000416488.1_Frame_Shift_Ins_p.F23fs|ZNF10_ENST00000540927.1_Intron						__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__								__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__		TTGTGGACTTCACCAGGGAG	0.44	__UNKNOWN__	__UNKNOWN__								__UNKNOWN__	__UNKNOWN__	__UNKNOWN__																																																											false	false		false	false			false	false	false		false	false	false	false	false	false	false	false	false	false	false	false	false	false	false	false	false	false	false	false	false	false		false		false		false	false	false				false					false																																														
 ZNF268		__UNKNOWN__	hg19	12	133780295	133780296	+	Frame_Shift_Ins	INS	-	-	C			__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	NA	NA	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	g.chr12:133780295_133780296insC	ENST00000536435.2	+	6	2353	c.2023_2024insC	c.(2023-2025)aaafs	p.K675fs	ZNF268_ENST00000228289.5_Frame_Shift_Ins_p.K675fs|ZNF268_ENST00000541009.2_3'UTR|ZNF268_ENST00000542986.2_3'UTR|ZNF268_ENST00000536899.2_3'UTR|ZNF268_ENST00000537565.1_Frame_Shift_Ins_p.K514fs						__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__								__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__		CAATGTGCAAAAACCTTTAG	0.4025	__UNKNOWN__	__UNKNOWN__								__UNKNOWN__	__UNKNOWN__	__UNKNOWN__																																																											false	false		false	false			false	false	false		false	false	false	false	false	false	false	false	false	false	false	false	false	false	false	false	false	false	false	false	false	false		false		false		false	false	false				false					false																																														
-SAP18		__UNKNOWN__	hg19	13	21714654	21714654	+	DE_NOVO_START_OUT_FRAME	SNP	A	A	G			__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	NA	NA	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	g.chr13:21714654A>G	ENST00000382533.4	+	1					SAP18_ENST00000485646.1_5'Flank|SAP18_ENST00000607003.1_5'Flank						__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__								__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__		GGCCGACTATAAAGTGTCGAG	0.6259351620947631	__UNKNOWN__	__UNKNOWN__								__UNKNOWN__	__UNKNOWN__	__UNKNOWN__																																																											false	false		false	false			false	false	false		false	false	false	false	false	false	false	false	false	false	false	false	false	false	false	false	false	false	false	false	false	false		false		false		false	false	false				false					false																																														
-SMAD9		__UNKNOWN__	hg19	13	37427618	37427619	+	Frame_Shift_Ins	INS	-	-	T			__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	NA	NA	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	g.chr13:37427618_37427619insT	ENST00000350148.5	-	5	1396	c.1086_1087insA	c.(1087-1089)cacfs	p.H363fs	SMAD9_ENST00000399275.2_Frame_Shift_Ins_p.H400fs|SMAD9_ENST00000379826.4_Frame_Shift_Ins_p.H400fs						__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__								__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__		CAAAGCCGTGGTGAACTGAC	0.475	__UNKNOWN__	__UNKNOWN__								__UNKNOWN__	__UNKNOWN__	__UNKNOWN__																																																											false	false		false	false			false	false	false		false	false	false	false	false	false	false	false	false	false	false	false	false	false	false	false	false	false	false	false	false	false		false		false		false	false	false				false					false																																														
+SAP18		__UNKNOWN__	hg19	13	21714654	21714654	+	DE_NOVO_START_OUT_FRAME	SNP	A	A	G			__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	NA	NA	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	g.chr13:21714654A>G	ENST00000382533.4	+	1					SAP18_ENST00000485646.1_5'Flank|SAP18_ENST00000607003.1_5'Flank|SNORD27_ENST00000516319.1_5'Flank						__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__								__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__		GGCCGACTATAAAGTGTCGAG	0.6259351620947631	__UNKNOWN__	__UNKNOWN__								__UNKNOWN__	__UNKNOWN__	__UNKNOWN__																																																											false	false		false	false			false	false	false		false	false	false	false	false	false	false	false	false	false	false	false	false	false	false	false	false	false	false	false	false	false		false		false		false	false	false				false					false																																														
+SMAD9		__UNKNOWN__	hg19	13	37427618	37427619	+	Frame_Shift_Ins	INS	-	-	T			__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	NA	NA	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	g.chr13:37427618_37427619insT	ENST00000350148.5	-	5	1396	c.1086_1087insA	c.(1087-1089)cacfs	p.H363fs	SMAD9_ENST00000399275.2_Frame_Shift_Ins_p.H400fs|SMAD9_ENST00000379826.4_Frame_Shift_Ins_p.H400fs|SMAD9-AS1_ENST00000437983.2_5'Flank						__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__								__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__		CAAAGCCGTGGTGAACTGAC	0.475	__UNKNOWN__	__UNKNOWN__								__UNKNOWN__	__UNKNOWN__	__UNKNOWN__																																																											false	false		false	false			false	false	false		false	false	false	false	false	false	false	false	false	false	false	false	false	false	false	false	false	false	false	false	false	false		false		false		false	false	false				false					false																																														
 LMO7		__UNKNOWN__	hg19	13	76335079	76335079	+	DE_NOVO_START_OUT_FRAME	SNP	C	C	T			__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	NA	NA	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	g.chr13:76335079C>T	ENST00000321797.8	+	2					LMO7_ENST00000465261.2_DE_NOVO_START_OUT_FRAME|LMO7_ENST00000341547.4_Silent_p.N126N|LMO7_ENST00000526202.1_Silent_p.N35N|LMO7_ENST00000357063.3_Silent_p.N126N|LMO7_ENST00000377534.3_Silent_p.N126N|RP11-29G8.3_ENST00000563635.1_RNA						__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__								__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__		ATAATATAAACGTTTTCTTGA	0.3516209476309227	__UNKNOWN__	__UNKNOWN__								__UNKNOWN__	__UNKNOWN__	__UNKNOWN__																																																											false	false		false	false			false	false	false		false	false	false	false	false	false	false	false	false	false	false	false	false	false	false	false	false	false	false	false	false	false		false		false		false	false	false				false					false																																														
 DTD2		__UNKNOWN__	hg19	14	31917379	31917380	+	Frame_Shift_Ins	INS	-	-	GG			__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	NA	NA	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	g.chr14:31917379_31917380insGG	ENST00000310850.4	-	3	580	c.462_463insCC	c.(463-465)aagfs	p.K155fs	RP11-176H8.1_ENST00000547378.1_Intron|DTD2_ENST00000356180.4_Frame_Shift_Ins_p.K155fs|CTD-2213F21.2_ENST00000502430.2_RNA						__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__								__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__		TGTCCAGCTTTAACACCTGC	0.365	__UNKNOWN__	__UNKNOWN__								__UNKNOWN__	__UNKNOWN__	__UNKNOWN__																																																											false	false		false	false			false	false	false		false	false	false	false	false	false	false	false	false	false	false	false	false	false	false	false	false	false	false	false	false	false		false		false		false	false	false				false					false																																														
 MIPOL1		__UNKNOWN__	hg19	14	37717112	37717112	+	DE_NOVO_START_IN_FRAME	SNP	G	G	T			__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	NA	NA	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	g.chr14:37717112G>T	ENST00000556451.1	+	5					MIPOL1_ENST00000327441.7_Splice_Site_p.D7Y|MIPOL1_ENST00000539062.2_DE_NOVO_START_OUT_FRAME|MIPOL1_ENST00000537471.1_Splice_Site_p.D7Y|MIPOL1_ENST00000396294.2_Splice_Site_p.D7Y|MIPOL1_ENST00000545536.1_DE_NOVO_START_IN_FRAME|MIPOL1_ENST00000536774.1_Intron						__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__								__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__		CTGGTCAAAAGGTAAGGACTT	0.3690773067331671	__UNKNOWN__	__UNKNOWN__								__UNKNOWN__	__UNKNOWN__	__UNKNOWN__																																																											false	false		false	false			false	false	false		false	false	false	false	false	false	false	false	false	false	false	false	false	false	false	false	false	false	false	false	false	false		false		false		false	false	false				false					false																																														
@@ -1445,18 +1445,18 @@ CDH5		__UNKNOWN__	hg19	16	66432463	66432463	+	DE_NOVO_START_OUT_FRAME	SNP	C	C	T
 SLC52A1		__UNKNOWN__	hg19	17	4955266	4955266	+	DE_NOVO_START_OUT_FRAME	SNP	G	G	A			__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	NA	NA	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	g.chr17:4955266G>A	ENST00000512825.2	-	1											__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__								__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__		GCCAGGCACCGTGGCTCAGGC	0.486284289276808	__UNKNOWN__	__UNKNOWN__								__UNKNOWN__	__UNKNOWN__	__UNKNOWN__																																																											false	false		false	false			false	false	false		false	false	false	false	false	false	false	false	false	false	false	false	false	false	false	false	false	false	false	false	false	false		false		false		false	false	false				false					false																																														
 ALOXE3		__UNKNOWN__	hg19	17	8021612	8021612	+	DE_NOVO_START_OUT_FRAME	SNP	C	C	A			__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	NA	NA	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	g.chr17:8021612C>A	ENST00000448843.2	-	2					ALOXE3_ENST00000380149.1_Missense_Mutation_p.Q55H|ALOXE3_ENST00000318227.3_Missense_Mutation_p.Q31H						__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__								__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__		TATCAGGAGCCTGGGTTCCAC	0.6109725685785536	__UNKNOWN__	__UNKNOWN__								__UNKNOWN__	__UNKNOWN__	__UNKNOWN__																																																											false	false		false	false			false	false	false		false	false	false	false	false	false	false	false	false	false	false	false	false	false	false	false	false	false	false	false	false	false		false		false		false	false	false				false					false																																														
 SLFN13		__UNKNOWN__	hg19	17	33772713	33772713	+	DE_NOVO_START_IN_FRAME	SNP	C	C	A			__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	NA	NA	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	g.chr17:33772713C>A	ENST00000533791.1	-	1					SLFN13_ENST00000285013.6_Splice_Site|SLFN13_ENST00000526861.1_Splice_Site|SLFN13_ENST00000542635.1_Splice_Site|SLFN13_ENST00000534689.1_Splice_Site|SLFN13_ENST00000360502.2_5'Flank						__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__								__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__		GAACTTGCACCTTAAAGTATT	0.4089775561097257	__UNKNOWN__	__UNKNOWN__								__UNKNOWN__	__UNKNOWN__	__UNKNOWN__																																																											false	false		false	false			false	false	false		false	false	false	false	false	false	false	false	false	false	false	false	false	false	false	false	false	false	false	false	false	false		false		false		false	false	false				false					false																																														
-ACBD4		__UNKNOWN__	hg19	17	43212963	43212963	+	DE_NOVO_START_OUT_FRAME	SNP	G	G	T			__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	NA	NA	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	g.chr17:43212963G>T	ENST00000431281.1	+	2					ACBD4_ENST00000591859.1_Intron|ACBD4_ENST00000321854.8_5'Flank|ACBD4_ENST00000376955.4_5'Flank|ACBD4_ENST00000398322.3_5'Flank|ACBD4_ENST00000586346.1_5'Flank|ACBD4_ENST00000591136.1_5'Flank|ACBD4_ENST00000592162.1_5'Flank						__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__								__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__		GGTTGAGGTAGGTAAGCCGAA	0.628428927680798	__UNKNOWN__	__UNKNOWN__								__UNKNOWN__	__UNKNOWN__	__UNKNOWN__																																																											false	false		false	false			false	false	false		false	false	false	false	false	false	false	false	false	false	false	false	false	false	false	false	false	false	false	false	false	false		false		false		false	false	false				false					false																																														
-ACBD4		__UNKNOWN__	hg19	17	43212963	43212963	+	DE_NOVO_START_OUT_FRAME	SNP	G	G	T			__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	NA	NA	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	g.chr17:43212963G>T	ENST00000431281.1	+	2					ACBD4_ENST00000591859.1_Intron|ACBD4_ENST00000321854.8_5'Flank|ACBD4_ENST00000376955.4_5'Flank|ACBD4_ENST00000398322.3_5'Flank|ACBD4_ENST00000586346.1_5'Flank|ACBD4_ENST00000591136.1_5'Flank|ACBD4_ENST00000592162.1_5'Flank						__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__								__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__		GGTTGAGGTAGGTAAGCCGAA	0.628428927680798	__UNKNOWN__	__UNKNOWN__								__UNKNOWN__	__UNKNOWN__	__UNKNOWN__																																																											false	false		false	false			false	false	false		false	false	false	false	false	false	false	false	false	false	false	false	false	false	false	false	false	false	false	false	false	false		false		false		false	false	false				false					false																																														
-KPNB1		__UNKNOWN__	hg19	17	45730168	45730168	+	DE_NOVO_START_OUT_FRAME	SNP	C	C	G			__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	NA	NA	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	g.chr17:45730168C>G	ENST00000540627.1	+	2					KPNB1_ENST00000290158.4_Missense_Mutation_p.P70A|KPNB1_ENST00000535458.2_DE_NOVO_START_OUT_FRAME|KPNB1_ENST00000537679.1_5'Flank|KPNB1_ENST00000577918.1_Intron						__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__								__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__		ATCTAAAGATCCAGATATCAA	0.4164588528678304	__UNKNOWN__	__UNKNOWN__								__UNKNOWN__	__UNKNOWN__	__UNKNOWN__																																																											false	false		false	false			false	false	false		false	false	false	false	false	false	false	false	false	false	false	false	false	false	false	false	false	false	false	false	false	false		false		false		false	false	false				false					false																																														
+ACBD4		__UNKNOWN__	hg19	17	43212963	43212963	+	DE_NOVO_START_OUT_FRAME	SNP	G	G	T			__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	NA	NA	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	g.chr17:43212963G>T	ENST00000431281.1	+	2					ACBD4_ENST00000591859.1_Intron|ACBD4_ENST00000321854.8_5'Flank|PLCD3_ENST00000322765.5_5'Flank|ACBD4_ENST00000376955.4_5'Flank|ACBD4_ENST00000398322.3_5'Flank|PLCD3_ENST00000540511.1_5'Flank|ACBD4_ENST00000586346.1_5'Flank|ACBD4_ENST00000591136.1_5'Flank|ACBD4_ENST00000592162.1_5'Flank						__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__								__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__		GGTTGAGGTAGGTAAGCCGAA	0.628428927680798	__UNKNOWN__	__UNKNOWN__								__UNKNOWN__	__UNKNOWN__	__UNKNOWN__																																																											false	false		false	false			false	false	false		false	false	false	false	false	false	false	false	false	false	false	false	false	false	false	false	false	false	false	false	false	false		false		false		false	false	false				false					false																																														
+ACBD4		__UNKNOWN__	hg19	17	43212963	43212963	+	DE_NOVO_START_OUT_FRAME	SNP	G	G	T			__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	NA	NA	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	g.chr17:43212963G>T	ENST00000431281.1	+	2					ACBD4_ENST00000591859.1_Intron|ACBD4_ENST00000321854.8_5'Flank|PLCD3_ENST00000322765.5_5'Flank|ACBD4_ENST00000376955.4_5'Flank|ACBD4_ENST00000398322.3_5'Flank|PLCD3_ENST00000540511.1_5'Flank|ACBD4_ENST00000586346.1_5'Flank|ACBD4_ENST00000591136.1_5'Flank|ACBD4_ENST00000592162.1_5'Flank						__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__								__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__		GGTTGAGGTAGGTAAGCCGAA	0.628428927680798	__UNKNOWN__	__UNKNOWN__								__UNKNOWN__	__UNKNOWN__	__UNKNOWN__																																																											false	false		false	false			false	false	false		false	false	false	false	false	false	false	false	false	false	false	false	false	false	false	false	false	false	false	false	false	false		false		false		false	false	false				false					false																																														
+KPNB1		__UNKNOWN__	hg19	17	45730168	45730168	+	DE_NOVO_START_OUT_FRAME	SNP	C	C	G			__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	NA	NA	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	g.chr17:45730168C>G	ENST00000540627.1	+	2					KPNB1_ENST00000290158.4_Missense_Mutation_p.P70A|KPNB1_ENST00000535458.2_DE_NOVO_START_OUT_FRAME|KPNB1_ENST00000537679.1_5'Flank|KPNB1_ENST00000577918.1_Intron|RP11-580I16.2_ENST00000580045.1_5'Flank|RP11-580I16.2_ENST00000582389.1_5'Flank|RP11-580I16.2_ENST00000584391.1_5'Flank						__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__								__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__		ATCTAAAGATCCAGATATCAA	0.4164588528678304	__UNKNOWN__	__UNKNOWN__								__UNKNOWN__	__UNKNOWN__	__UNKNOWN__																																																											false	false		false	false			false	false	false		false	false	false	false	false	false	false	false	false	false	false	false	false	false	false	false	false	false	false	false	false	false		false		false		false	false	false				false					false																																														
 GGA3		__UNKNOWN__	hg19	17	73242591	73242591	+	DE_NOVO_START_IN_FRAME	SNP	G	G	A			__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	NA	NA	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	g.chr17:73242591G>A	ENST00000582486.1	-	3					GGA3_ENST00000578348.1_DE_NOVO_START_IN_FRAME|GGA3_ENST00000245541.6_Splice_Site_p.T67M|GGA3_ENST00000582717.1_DE_NOVO_START_IN_FRAME|GGA3_ENST00000351904.7_Splice_Site_p.T67M|GGA3_ENST00000537686.1_Splice_Site_p.T67M|GGA3_ENST00000538886.1_Intron|GGA3_ENST00000579743.1_Splice_Site						__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__								__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__		AGGACCTACCGTCAGGGCCTG	0.5960099750623441	__UNKNOWN__	__UNKNOWN__								__UNKNOWN__	__UNKNOWN__	__UNKNOWN__																																																											false	false		false	false			false	false	false		false	false	false	false	false	false	false	false	false	false	false	false	false	false	false	false	false	false	false	false	false	false		false		false		false	false	false				false					false																																														
 ZADH2		__UNKNOWN__	hg19	18	72914161	72914161	+	DE_NOVO_START_OUT_FRAME	SNP	T	T	C			__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	NA	NA	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	g.chr18:72914161T>C	ENST00000537114.2	-	2					ZADH2_ENST00000322342.3_Missense_Mutation_p.Y115C						__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__								__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__		GCCAACTGTGTATCTGGCACT	0.4837905236907731	__UNKNOWN__	__UNKNOWN__								__UNKNOWN__	__UNKNOWN__	__UNKNOWN__																																																											false	false		false	false			false	false	false		false	false	false	false	false	false	false	false	false	false	false	false	false	false	false	false	false	false	false	false	false	false		false		false		false	false	false				false					false																																														
 ZADH2		__UNKNOWN__	hg19	18	72914280	72914280	+	DE_NOVO_START_OUT_FRAME	SNP	G	G	A			__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	NA	NA	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	g.chr18:72914280G>A	ENST00000537114.2	-	2					ZADH2_ENST00000322342.3_Silent_p.N75N						__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__								__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__		TGTCAGATGCGTTAACACCAA	0.4389027431421446	__UNKNOWN__	__UNKNOWN__								__UNKNOWN__	__UNKNOWN__	__UNKNOWN__																																																											false	false		false	false			false	false	false		false	false	false	false	false	false	false	false	false	false	false	false	false	false	false	false	false	false	false	false	false	false		false		false		false	false	false				false					false																																														
 TNFSF14		__UNKNOWN__	hg19	19	6670529	6670529	+	DE_NOVO_START_OUT_FRAME	SNP	G	G	A			__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	NA	NA	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	g.chr19:6670529G>A	ENST00000599359.1	-	1					TNFSF14_ENST00000326176.9_DE_NOVO_START_OUT_FRAME|TNFSF14_ENST00000245912.3_5'Flank						__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__								__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__		AAGAAACCTCGTAAACAAGAA	0.5336658354114713	__UNKNOWN__	__UNKNOWN__								__UNKNOWN__	__UNKNOWN__	__UNKNOWN__																																																											false	false		false	false			false	false	false		false	false	false	false	false	false	false	false	false	false	false	false	false	false	false	false	false	false	false	false	false	false		false		false		false	false	false				false					false																																														
 GDF1		__UNKNOWN__	hg19	19	18994994	18994994	+	DE_NOVO_START_OUT_FRAME	SNP	G	G	A			__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	NA	NA	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	g.chr19:18994994G>A	ENST00000247005.6	-	3					CERS1_ENST00000429504.2_Silent_p.Y164Y|CERS1_ENST00000542296.2_Silent_p.Y66Y|CERS1_ENST00000427170.2_Silent_p.Y164Y						__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__								__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__		ATAGCGTAGCGTAGATGGAGT	0.6259351620947631	__UNKNOWN__	__UNKNOWN__								__UNKNOWN__	__UNKNOWN__	__UNKNOWN__																																																											false	false		false	false			false	false	false		false	false	false	false	false	false	false	false	false	false	false	false	false	false	false	false	false	false	false	false	false	false		false		false		false	false	false				false					false																																														
 ZNF780B		__UNKNOWN__	hg19	19	40542375	40542375	+	DE_NOVO_START_OUT_FRAME	SNP	G	G	A			__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	NA	NA	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	g.chr19:40542375G>A	ENST00000221355.6	-	6					ZNF780B_ENST00000434248.1_Nonsense_Mutation_p.R131*						__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__								__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__		TGTCCCTGTCGTCCCTCAAAT	0.32917705735660846	__UNKNOWN__	__UNKNOWN__								__UNKNOWN__	__UNKNOWN__	__UNKNOWN__																																																											false	false		false	false			false	false	false		false	false	false	false	false	false	false	false	false	false	false	false	false	false	false	false	false	false	false	false	false	false		false		false		false	false	false				false					false																																														
-BCKDHA		__UNKNOWN__	hg19	19	41903671	41903671	+	DE_NOVO_START_OUT_FRAME	SNP	A	A	G			__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	NA	NA	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	g.chr19:41903671A>G	ENST00000269980.2	+	1					CTC-435M10.3_ENST00000540732.1_Intron|BCKDHA_ENST00000595085.1_Intron|BCKDHA_ENST00000457836.2_5'Flank|CTC-435M10.3_ENST00000604424.1_Intron						__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__								__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__		TCAGGCACATAAAGAGGCAGC	0.5511221945137157	__UNKNOWN__	__UNKNOWN__								__UNKNOWN__	__UNKNOWN__	__UNKNOWN__																																																											false	false		false	false			false	false	false		false	false	false	false	false	false	false	false	false	false	false	false	false	false	false	false	false	false	false	false	false	false		false		false		false	false	false				false					false																																														
+BCKDHA		__UNKNOWN__	hg19	19	41903671	41903671	+	DE_NOVO_START_OUT_FRAME	SNP	A	A	G			__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	NA	NA	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	g.chr19:41903671A>G	ENST00000269980.2	+	1					CTC-435M10.3_ENST00000540732.1_Intron|BCKDHA_ENST00000595085.1_Intron|EXOSC5_ENST00000221233.4_5'Flank|BCKDHA_ENST00000457836.2_5'Flank|EXOSC5_ENST00000596905.1_5'Flank|CTC-435M10.3_ENST00000604424.1_Intron|CTC-435M10.10_ENST00000598988.1_5'Flank						__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__								__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__		TCAGGCACATAAAGAGGCAGC	0.5511221945137157	__UNKNOWN__	__UNKNOWN__								__UNKNOWN__	__UNKNOWN__	__UNKNOWN__																																																											false	false		false	false			false	false	false		false	false	false	false	false	false	false	false	false	false	false	false	false	false	false	false	false	false	false	false	false	false		false		false		false	false	false				false					false																																														
 ALLC		__UNKNOWN__	hg19	2	3718692	3718692	+	DE_NOVO_START_IN_FRAME	SNP	C	C	T			__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	NA	NA	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	g.chr2:3718692C>T	ENST00000252505.3	+	2											__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__								__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__		CCAGGAAGCACGGCTGATGCT	0.5211970074812967	__UNKNOWN__	__UNKNOWN__								__UNKNOWN__	__UNKNOWN__	__UNKNOWN__																																																											false	false		false	false			false	false	false		false	false	false	false	false	false	false	false	false	false	false	false	false	false	false	false	false	false	false	false	false	false		false		false		false	false	false				false					false																																														
-DNAJC27		__UNKNOWN__	hg19	2	25194771	25194771	+	START_CODON_SNP	SNP	C	C	T			__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	NA	NA	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	g.chr2:25194771C>T	ENST00000264711.2	-	1	193	c.3G>A	c.(1-3)atG>atA	p.M1I	DNAJC27_ENST00000468467.1_5'Flank|DNAJC27_ENST00000534855.1_5'Flank|DNAJC27-AS1_ENST00000421904.1_RNA|DNAJC27-AS1_ENST00000451291.1_RNA|DNAJC27-AS1_ENST00000421842.1_5'Flank|DNAJC27-AS1_ENST00000422449.1_5'Flank|DNAJC27-AS1_ENST00000428614.1_5'Flank|DNAJC27-AS1_ENST00000434897.1_5'Flank|DNAJC27-AS1_ENST00000445389.1_5'Flank						__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__								__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__		TGTTGGCCTCCATGGCCCTGG	0.713216957605985	__UNKNOWN__	__UNKNOWN__								__UNKNOWN__	__UNKNOWN__	__UNKNOWN__																																																											false	false		false	false			false	false	false		false	false	false	false	false	false	false	false	false	false	false	false	false	false	false	false	false	false	false	false	false	false		false		false		false	false	false				false					false																																														
+DNAJC27		__UNKNOWN__	hg19	2	25194771	25194771	+	START_CODON_SNP	SNP	C	C	T			__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	NA	NA	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	g.chr2:25194771C>T	ENST00000264711.2	-	1	193	c.3G>A	c.(1-3)atG>atA	p.M1I	DNAJC27_ENST00000468467.1_5'Flank|DNAJC27_ENST00000534855.1_5'Flank|DNAJC27-AS1_ENST00000421904.1_RNA|DNAJC27-AS1_ENST00000451291.1_RNA|SNORD14_ENST00000365609.1_5'Flank|DNAJC27-AS1_ENST00000421842.1_5'Flank|DNAJC27-AS1_ENST00000422449.1_5'Flank|DNAJC27-AS1_ENST00000428614.1_5'Flank|DNAJC27-AS1_ENST00000434897.1_5'Flank|DNAJC27-AS1_ENST00000445389.1_5'Flank						__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__								__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__		TGTTGGCCTCCATGGCCCTGG	0.713216957605985	__UNKNOWN__	__UNKNOWN__								__UNKNOWN__	__UNKNOWN__	__UNKNOWN__																																																											false	false		false	false			false	false	false		false	false	false	false	false	false	false	false	false	false	false	false	false	false	false	false	false	false	false	false	false	false		false		false		false	false	false				false					false																																														
 DRC1		__UNKNOWN__	hg19	2	26679385	26679385	+	Nonstop_Mutation	SNP	A	A	C			__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	NA	NA	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	g.chr2:26679385A>C	ENST00000288710.2	+	17	2297	c.2223A>C	c.(2221-2223)tgA>tgC	p.*741C							__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__								__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__		CCACAAAATGAGCTGGACCGC	0.5411471321695761	__UNKNOWN__	__UNKNOWN__								__UNKNOWN__	__UNKNOWN__	__UNKNOWN__																																																											false	false		false	false			false	false	false		false	false	false	false	false	false	false	false	false	false	false	false	false	false	false	false	false	false	false	false	false	false		false		false		false	false	false				false					false																																														
 GPN1		__UNKNOWN__	hg19	2	27870801	27870802	+	Frame_Shift_Ins	INS	-	-	GC			__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	NA	NA	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	g.chr2:27870801_27870802insGC	ENST00000610189.1	+	13	1037	c.1030_1031insGC	c.(1030-1032)gacfs	p.D344fs	GPN1_ENST00000264718.3_Frame_Shift_Ins_p.D358fs|GPN1_ENST00000424214.1_Frame_Shift_Ins_p.D265fs|GPN1_ENST00000515877.1_Frame_Shift_Ins_p.D265fs|GPN1_ENST00000458167.2_Frame_Shift_Ins_p.D249fs|GPN1_ENST00000407583.3_Frame_Shift_Ins_p.D332fs|GPN1_ENST00000503738.1_Frame_Shift_Ins_p.D249fs						__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__								__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__		GATGACATTGACCACAGAGG	0.4575	__UNKNOWN__	__UNKNOWN__								__UNKNOWN__	__UNKNOWN__	__UNKNOWN__																																																											false	false		false	false			false	false	false		false	false	false	false	false	false	false	false	false	false	false	false	false	false	false	false	false	false	false	false	false	false		false		false		false	false	false				false					false																																														
 TRMT61B		__UNKNOWN__	hg19	2	29093143	29093143	+	START_CODON_SNP	SNP	T	T	C			__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	NA	NA	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	g.chr2:29093143T>C	ENST00000306108.5	-	1	25	c.1A>G	c.(1-3)Atg>Gtg	p.M1V							__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__								__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__		GCCATTAGCATAGTGTTTCGC	0.6533665835411472	__UNKNOWN__	__UNKNOWN__								__UNKNOWN__	__UNKNOWN__	__UNKNOWN__																																																											false	false		false	false			false	false	false		false	false	false	false	false	false	false	false	false	false	false	false	false	false	false	false	false	false	false	false	false	false		false		false		false	false	false				false					false																																														
@@ -1464,7 +1464,7 @@ TSPYL6		__UNKNOWN__	hg19	2	54483287	54483287	+	START_CODON_SNP	SNP	A	A	G			__UNK
 TSPYL6		__UNKNOWN__	hg19	2	54483288	54483288	+	START_CODON_SNP	SNP	T	T	C			__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	NA	NA	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	g.chr2:54483288T>C	ENST00000317802.7	-	1	122	c.1A>G	c.(1-3)Atg>Gtg	p.M1V	ACYP2_ENST00000394666.3_Intron|ACYP2_ENST00000607452.1_Intron|ACYP2_ENST00000303536.4_Intron|ACYP2_ENST00000606865.1_Intron						__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__								__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__		GGGAGGCTCATGTTGGTAGCG	0.600997506234414	__UNKNOWN__	__UNKNOWN__								__UNKNOWN__	__UNKNOWN__	__UNKNOWN__																																																											false	false		false	false			false	false	false		false	false	false	false	false	false	false	false	false	false	false	false	false	false	false	false	false	false	false	false	false	false		false		false		false	false	false				false					false																																														
 C2orf73		__UNKNOWN__	hg19	2	54558114	54558114	+	START_CODON_SNP	SNP	T	T	C			__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	NA	NA	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	g.chr2:54558114T>C	ENST00000398634.2	+	1	44	c.2T>C	c.(1-3)aTg>aCg	p.M1T	C2orf73_ENST00000405749.1_START_CODON_SNP_p.M1T|C2orf73_ENST00000491538.1_5'Flank						__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__								__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__		TAGAGGCCCATGGAGGAAAAG	0.5660847880299252	__UNKNOWN__	__UNKNOWN__								__UNKNOWN__	__UNKNOWN__	__UNKNOWN__																																																											false	false		false	false			false	false	false		false	false	false	false	false	false	false	false	false	false	false	false	false	false	false	false	false	false	false	false	false	false		false		false		false	false	false				false					false																																														
 ATP6V1B1		__UNKNOWN__	hg19	2	71163086	71163086	+	START_CODON_SNP	SNP	T	T	C	11681642	byFrequency;by1000genomes	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	NA	NA	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	g.chr2:71163086T>C	ENST00000234396.4	+	1	75	c.2T>C	c.(1-3)aTg>aCg	p.M1T	ATP6V1B1_ENST00000412314.1_START_CODON_SNP_p.M1T						__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__								__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__		GACTGCTCCATGGCCATGGAG	0.6508728179551122	__UNKNOWN__	__UNKNOWN__								__UNKNOWN__	__UNKNOWN__	__UNKNOWN__																																																											true	false	0.6312,0.3688	false	false	1		false	true	true	ATP6V1B1:525	true	true	false	true	true	false	false	false	false	false	false	true	false	false	false	true	true	false	false	true	false	false	0	true	0	false		false	false	false	SNV	0x050128000a05170537000100	1	false	120	rs11681642		71163086	true																																														
-CCDC142		__UNKNOWN__	hg19	2	74709963	74709963	+	START_CODON_SNP	SNP	A	A	G			__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	NA	NA	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	g.chr2:74709963A>G	ENST00000290418.4	-	1	161	c.2T>C	c.(1-3)aTg>aCg	p.M1T	CCDC142_ENST00000393965.3_START_CODON_SNP_p.M1T|CCDC142_ENST00000471713.1_Intron						__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__								__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__		CGCCTGGGCCATGGGGCGGCG	0.6633416458852868	__UNKNOWN__	__UNKNOWN__								__UNKNOWN__	__UNKNOWN__	__UNKNOWN__																																																											false	false		false	false			false	false	false		false	false	false	false	false	false	false	false	false	false	false	false	false	false	false	false	false	false	false	false	false	false		false		false		false	false	false				false					false																																														
+CCDC142		__UNKNOWN__	hg19	2	74709963	74709963	+	START_CODON_SNP	SNP	A	A	G			__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	NA	NA	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	g.chr2:74709963A>G	ENST00000290418.4	-	1	161	c.2T>C	c.(1-3)aTg>aCg	p.M1T	CCDC142_ENST00000393965.3_START_CODON_SNP_p.M1T|TTC31_ENST00000233623.5_5'Flank|TTC31_ENST00000410003.1_5'Flank|TTC31_ENST00000442235.2_5'Flank|TTC31_ENST00000463189.1_5'Flank|CCDC142_ENST00000471713.1_Intron						__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__								__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__		CGCCTGGGCCATGGGGCGGCG	0.6633416458852868	__UNKNOWN__	__UNKNOWN__								__UNKNOWN__	__UNKNOWN__	__UNKNOWN__																																																											false	false		false	false			false	false	false		false	false	false	false	false	false	false	false	false	false	false	false	false	false	false	false	false	false	false	false	false	false		false		false		false	false	false				false					false																																														
 DNAH6		__UNKNOWN__	hg19	2	84777170	84777171	+	Frame_Shift_Ins	INS	-	-	T			__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	NA	NA	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	g.chr2:84777170_84777171insT	ENST00000237449.6	+	8	1482	c.1474_1475insT	c.(1474-1476)cctfs	p.P492fs	DNAH6_ENST00000389394.3_Frame_Shift_Ins_p.P492fs|DNAH6_ENST00000398278.2_Frame_Shift_Ins_p.P492fs						__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__								__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__		CCTGAAGTCCCTGATAAAAA	0.36	__UNKNOWN__	__UNKNOWN__								__UNKNOWN__	__UNKNOWN__	__UNKNOWN__																																																											false	false		false	false			false	false	false		false	false	false	false	false	false	false	false	false	false	false	false	false	false	false	false	false	false	false	false	false	false		false		false		false	false	false				false					false																																														
 CAPG		__UNKNOWN__	hg19	2	85629266	85629266	+	START_CODON_SNP	SNP	C	C	T			__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	NA	NA	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	g.chr2:85629266C>T	ENST00000409921.1	-	2	70	c.3G>A	c.(1-3)atG>atA	p.M1I	CAPG_ENST00000263867.4_START_CODON_SNP_p.M1I|CAPG_ENST00000409670.1_START_CODON_SNP_p.M1I|CAPG_ENST00000409724.1_START_CODON_SNP_p.M1I|CAPG_ENST00000483659.1_5'Flank						__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__								__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__		TGGCTGTGTACATGCTGTCTT	0.5261845386533666	__UNKNOWN__	__UNKNOWN__								__UNKNOWN__	__UNKNOWN__	__UNKNOWN__																																																											false	false		false	false			false	false	false		false	false	false	false	false	false	false	false	false	false	false	false	false	false	false	false	false	false	false	false	false	false		false		false		false	false	false				false					false																																														
 RNF103		__UNKNOWN__	hg19	2	86849962	86849963	+	Frame_Shift_Ins	INS	-	-	C			__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	NA	NA	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	g.chr2:86849962_86849963insC	ENST00000237455.4	-	1	1017	c.47_48insG	c.(46-48)ttcfs	p.F16fs	RNF103-CHMP3_ENST00000604011.1_Intron|CHMP3_ENST00000439940.2_Intron|RNF103_ENST00000477307.1_Intron						__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__								__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__		GGCCAGGACGAACAGGACCA	0.6125	__UNKNOWN__	__UNKNOWN__								__UNKNOWN__	__UNKNOWN__	__UNKNOWN__																																																											false	false		false	false			false	false	false		false	false	false	false	false	false	false	false	false	false	false	false	false	false	false	false	false	false	false	false	false	false		false		false		false	false	false				false					false																																														
@@ -1491,7 +1491,7 @@ HIBCH		__UNKNOWN__	hg19	2	191184475	191184475	+	START_CODON_SNP	SNP	A	A	G	291466
 HECW2		__UNKNOWN__	hg19	2	197208381	197208381	+	DE_NOVO_START_IN_FRAME	SNP	G	G	A			__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	NA	NA	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	g.chr2:197208381G>A	ENST00000409111.1	-	2					HECW2_ENST00000260983.3_Splice_Site_p.P134S						__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__								__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__		AGTTACTTACGTTCCATGAAA	0.3117206982543641	__UNKNOWN__	__UNKNOWN__								__UNKNOWN__	__UNKNOWN__	__UNKNOWN__																																																											false	false		false	false			false	false	false		false	false	false	false	false	false	false	false	false	false	false	false	false	false	false	false	false	false	false	false	false	false		false		false		false	false	false				false					false																																														
 CASP8		__UNKNOWN__	hg19	2	202122956	202122956	+	START_CODON_SNP	SNP	T	T	C			__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	NA	NA	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	g.chr2:202122956T>C	ENST00000358485.4	+	1	198	c.2T>C	c.(1-3)aTg>aCg	p.M1T	CASP8_ENST00000264275.5_Intron|CASP8_ENST00000432109.2_Intron|CASP8_ENST00000392258.3_Intron|CASP8_ENST00000392259.2_Intron|CASP8_ENST00000392266.3_Intron|CASP8_ENST00000264274.9_Intron|CASP8_ENST00000323492.7_5'Flank						__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__								__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__		AGTGAGGCCATGGAGGGAGGC	0.4937655860349127	__UNKNOWN__	__UNKNOWN__								__UNKNOWN__	__UNKNOWN__	__UNKNOWN__																																																											false	false		false	false			false	false	false		false	false	false	false	false	false	false	false	false	false	false	false	false	false	false	false	false	false	false	false	false	false		false		false		false	false	false				false					false																																														
 PTH2R		__UNKNOWN__	hg19	2	209358383	209358383	+	Nonstop_Mutation	SNP	G	G	T			__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	NA	NA	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	g.chr2:209358383G>T	ENST00000272847.2	+	13	1865	c.1652G>T	c.(1651-1653)tGa>tTa	p.*551L	AC019185.4_ENST00000424628.1_RNA|PTH2R_ENST00000413482.1_Intron						__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__								__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__		GATGTTCTCTGAATGGACATT	0.4538653366583541	__UNKNOWN__	__UNKNOWN__								__UNKNOWN__	__UNKNOWN__	__UNKNOWN__																																																											false	false		false	false			false	false	false		false	false	false	false	false	false	false	false	false	false	false	false	false	false	false	false	false	false	false	false	false	false		false		false		false	false	false				false					false																																														
-PECR		__UNKNOWN__	hg19	2	216946463	216946463	+	START_CODON_SNP	SNP	A	A	G			__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	NA	NA	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	g.chr2:216946463A>G	ENST00000265322.7	-	1	77	c.2T>C	c.(1-3)aTg>aCg	p.M1T	PECR_ENST00000497889.1_Intron						__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__								__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__		CCAGGAGGCCATCCCTGCAGC	0.713216957605985	__UNKNOWN__	__UNKNOWN__								__UNKNOWN__	__UNKNOWN__	__UNKNOWN__																																																											false	false		false	false			false	false	false		false	false	false	false	false	false	false	false	false	false	false	false	false	false	false	false	false	false	false	false	false	false		false		false		false	false	false				false					false																																														
+PECR		__UNKNOWN__	hg19	2	216946463	216946463	+	START_CODON_SNP	SNP	A	A	G			__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	NA	NA	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	g.chr2:216946463A>G	ENST00000265322.7	-	1	77	c.2T>C	c.(1-3)aTg>aCg	p.M1T	TMEM169_ENST00000295658.4_5'Flank|TMEM169_ENST00000406027.2_5'Flank|TMEM169_ENST00000437356.2_5'Flank|TMEM169_ENST00000454545.1_5'Flank|PECR_ENST00000497889.1_Intron						__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__								__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__		CCAGGAGGCCATCCCTGCAGC	0.713216957605985	__UNKNOWN__	__UNKNOWN__								__UNKNOWN__	__UNKNOWN__	__UNKNOWN__																																																											false	false		false	false			false	false	false		false	false	false	false	false	false	false	false	false	false	false	false	false	false	false	false	false	false	false	false	false	false		false		false		false	false	false				false					false																																														
 CXCR1		__UNKNOWN__	hg19	2	219029932	219029932	+	START_CODON_SNP	SNP	C	C	T			__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	NA	NA	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	g.chr2:219029932C>T	ENST00000295683.2	-	2	124	c.3G>A	c.(1-3)atG>atA	p.M1I							__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__								__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__		TAATATTTGACATGTCCTCTT	0.456359102244389	__UNKNOWN__	__UNKNOWN__								__UNKNOWN__	__UNKNOWN__	__UNKNOWN__																																																											false	false		false	false			false	false	false		false	false	false	false	false	false	false	false	false	false	false	false	false	false	false	false	false	false	false	false	false	false		false		false		false	false	false				false					false																																														
 STK11IP		__UNKNOWN__	hg19	2	220462640	220462640	+	DE_NOVO_START_IN_FRAME	SNP	G	G	T	681747	byFrequency;by1000genomes	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	NA	NA	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	g.chr2:220462640G>T	ENST00000456909.1	+	1					STK11IP_ENST00000295641.10_Missense_Mutation_p.R1M|STK11IP_ENST00000459692.1_5'Flank						__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__								__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__		CAGACGGGGAGGTTCGGTATG	0.6209476309226932	__UNKNOWN__	__UNKNOWN__								__UNKNOWN__	__UNKNOWN__	__UNKNOWN__																																																											true	false	0.1667,0.8333	false	false	1		false	true	false	STK11IP:114790	true	true	false	true	true	false	false	false	false	false	false	false	false	false	false	false	false	false	false	false	false	false	0	true	0	false	0.236589,0.763411	false	false	true	SNV	0x05010040000515053f000101	1	false	83	rs681747		220462640	true																																														
 FAM124B		__UNKNOWN__	hg19	2	225265759	225265760	+	Frame_Shift_Ins	INS	-	-	T			__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	NA	NA	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	g.chr2:225265759_225265760insT	ENST00000409685.3	-	1	993	c.726_727insA	c.(727-729)cttfs	p.L243fs	FAM124B_ENST00000389874.3_Frame_Shift_Ins_p.L243fs|FAM124B_ENST00000243806.2_Frame_Shift_Ins_p.L243fs						__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__								__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__		ATACCTGAAGCAGAATCTTG	0.4975	__UNKNOWN__	__UNKNOWN__								__UNKNOWN__	__UNKNOWN__	__UNKNOWN__																																																											false	false		false	false			false	false	false		false	false	false	false	false	false	false	false	false	false	false	false	false	false	false	false	false	false	false	false	false	false		false		false		false	false	false				false					false																																														
@@ -1504,19 +1504,19 @@ JAGN1		__UNKNOWN__	hg19	3	9932407	9932407	+	START_CODON_SNP	SNP	A	A	G			__UNKNOW
 VGLL4		__UNKNOWN__	hg19	3	11643465	11643465	+	DE_NOVO_START_IN_FRAME	SNP	T	T	C			__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	NA	NA	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	g.chr3:11643465T>C	ENST00000413604.1	-	2					VGLL4_ENST00000430365.2_Missense_Mutation_p.I38M|VGLL4_ENST00000273038.3_Missense_Mutation_p.I32M|VGLL4_ENST00000404339.1_Missense_Mutation_p.I37M						__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__								__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__		GCAGGGTCTGTATTCTGGGTT	0.5760598503740648	__UNKNOWN__	__UNKNOWN__								__UNKNOWN__	__UNKNOWN__	__UNKNOWN__																																																											false	false		false	false			false	false	false		false	false	false	false	false	false	false	false	false	false	false	false	false	false	false	false	false	false	false	false	false	false		false		false		false	false	false				false					false																																														
 HACL1		__UNKNOWN__	hg19	3	15643175	15643175	+	DE_NOVO_START_OUT_FRAME	SNP	G	G	A			__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	NA	NA	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	g.chr3:15643175G>A	ENST00000321169.5	-	1					BTD_ENST00000449107.1_5'UTR|BTD_ENST00000303498.5_5'Flank|BTD_ENST00000383778.4_5'Flank|HACL1_ENST00000435217.2_5'Flank|BTD_ENST00000437172.1_5'Flank|HACL1_ENST00000451445.2_5'Flank|HACL1_ENST00000456194.2_5'Flank|HACL1_ENST00000457447.2_5'Flank						__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__								__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__		AAACACGCGCGTTCTCCAATC	0.5685785536159601	__UNKNOWN__	__UNKNOWN__								__UNKNOWN__	__UNKNOWN__	__UNKNOWN__																																																											false	false		false	false			false	false	false		false	false	false	false	false	false	false	false	false	false	false	false	false	false	false	false	false	false	false	false	false	false		false		false		false	false	false				false					false																																														
 PLCL2		__UNKNOWN__	hg19	3	17131402	17131402	+	Nonstop_Mutation	SNP	T	T	G			__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	NA	NA	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	g.chr3:17131402T>G	ENST00000418129.2	+	6	3469	c.3004T>G	c.(3004-3006)Tga>Gga	p.*1002G	PLCL2_ENST00000432376.1_Nonstop_Mutation_p.*1002G						__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__								__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__		AACTGGAGAATGAGGAAACTT	0.38154613466334164	__UNKNOWN__	__UNKNOWN__								__UNKNOWN__	__UNKNOWN__	__UNKNOWN__																																																											false	false		false	false			false	false	false		false	false	false	false	false	false	false	false	false	false	false	false	false	false	false	false	false	false	false	false	false	false		false		false		false	false	false				false					false																																														
-OXSM		__UNKNOWN__	hg19	3	25835983	25835983	+	Nonstop_Mutation	SNP	T	T	C			__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	NA	NA	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	g.chr3:25835983T>C	ENST00000280701.3	+	3	1477	c.1378T>C	c.(1378-1380)Tag>Cag	p.*460Q	OXSM_ENST00000420173.2_Nonstop_Mutation_p.*377Q						__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__								__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__		TGCTGGACTGTAGAACATATA	0.3491271820448878	__UNKNOWN__	__UNKNOWN__								__UNKNOWN__	__UNKNOWN__	__UNKNOWN__																																																											false	false		false	false			false	false	false		false	false	false	false	false	false	false	false	false	false	false	false	false	false	false	false	false	false	false	false	false	false		false		false		false	false	false				false					false																																														
+OXSM		__UNKNOWN__	hg19	3	25835983	25835983	+	Nonstop_Mutation	SNP	T	T	C			__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	NA	NA	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	g.chr3:25835983T>C	ENST00000280701.3	+	3	1477	c.1378T>C	c.(1378-1380)Tag>Cag	p.*460Q	OXSM_ENST00000420173.2_Nonstop_Mutation_p.*377Q|NGLY1_ENST00000417874.2_5'Flank						__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__								__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__		TGCTGGACTGTAGAACATATA	0.3491271820448878	__UNKNOWN__	__UNKNOWN__								__UNKNOWN__	__UNKNOWN__	__UNKNOWN__																																																											false	false		false	false			false	false	false		false	false	false	false	false	false	false	false	false	false	false	false	false	false	false	false	false	false	false	false	false	false		false		false		false	false	false				false					false																																														
 SLC4A7		__UNKNOWN__	hg19	3	27418257	27418257	+	Nonstop_Mutation	SNP	A	A	G			__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	NA	NA	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	g.chr3:27418257A>G	ENST00000435667.2	-	25	3627	c.3406T>C	c.(3406-3408)Tag>Cag	p.*1136Q	SLC4A7_ENST00000455077.1_Nonstop_Mutation_p.*1132Q|SLC4A7_ENST00000295736.5_Nonstop_Mutation_p.*1215Q|SLC4A7_ENST00000428386.1_Nonstop_Mutation_p.*1091Q|SLC4A7_ENST00000454389.1_Nonstop_Mutation_p.*1260Q|SLC4A7_ENST00000440156.1_Nonstop_Mutation_p.*1247Q|SLC4A7_ENST00000445684.1_Nonstop_Mutation_p.*1211Q|SLC4A7_ENST00000446700.1_Nonstop_Mutation_p.*1207Q|SLC4A7_ENST00000437179.1_Nonstop_Mutation_p.*1096Q|SLC4A7_ENST00000388777.4_Nonstop_Mutation_p.*801Q|SLC4A7_ENST00000425128.2_3'UTR						__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__								__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__		GTTCAATTCTATAATGAAGTT	0.29925187032418954	__UNKNOWN__	__UNKNOWN__								__UNKNOWN__	__UNKNOWN__	__UNKNOWN__																																																											false	false		false	false			false	false	false		false	false	false	false	false	false	false	false	false	false	false	false	false	false	false	false	false	false	false	false	false	false		false		false		false	false	false				false					false																																														
 DCLK3		__UNKNOWN__	hg19	3	36756821	36756821	+	Nonstop_Mutation	SNP	A	A	C			__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	NA	NA	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	g.chr3:36756821A>C	ENST00000416516.2	-	5	2436	c.1945T>G	c.(1945-1947)Tag>Gag	p.*649E							__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__								__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__		GGTGGTGACTATGATACCTGC	0.4488778054862843	__UNKNOWN__	__UNKNOWN__								__UNKNOWN__	__UNKNOWN__	__UNKNOWN__																																																											false	false		false	false			false	false	false		false	false	false	false	false	false	false	false	false	false	false	false	false	false	false	false	false	false	false	false	false	false		false		false		false	false	false				false					false																																														
 C3orf35		__UNKNOWN__	hg19	3	37458758	37458758	+	START_CODON_SNP	SNP	A	A	C			__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	NA	NA	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	g.chr3:37458758A>C	ENST00000328376.5	+	5	980	c.1A>C	c.(1-3)Atg>Ctg	p.M1L	C3orf35_ENST00000426078.1_START_CODON_SNP_p.M1L|C3orf35_ENST00000425932.1_START_CODON_SNP_p.M1L|C3orf35_ENST00000425564.2_START_CODON_SNP_p.M1L|C3orf35_ENST00000452017.2_START_CODON_SNP_p.M1L|C3orf35_ENST00000481400.1_Intron						__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__								__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__		CTGAATCCACATGAAAACAAT	0.43640897755610975	__UNKNOWN__	__UNKNOWN__								__UNKNOWN__	__UNKNOWN__	__UNKNOWN__																																																											false	false		false	false			false	false	false		false	false	false	false	false	false	false	false	false	false	false	false	false	false	false	false	false	false	false	false	false	false		false		false		false	false	false				false					false																																														
-CCRL2		__UNKNOWN__	hg19	3	46450604	46450604	+	Nonstop_Mutation	SNP	A	A	C			__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	NA	NA	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	g.chr3:46450604A>C	ENST00000399036.3	+	2	1386	c.1034A>C	c.(1033-1035)tAa>tCa	p.*345S	CCRL2_ENST00000400882.2_Nonstop_Mutation_p.*345S|CCRL2_ENST00000400880.3_Nonstop_Mutation_p.*345S|CCRL2_ENST00000357392.4_Nonstop_Mutation_p.*357S|CCRL2_ENST00000441909.1_5'Flank						__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__								__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__		ACCGAAGTGTAAACTAGCATC	0.4538653366583541	__UNKNOWN__	__UNKNOWN__								__UNKNOWN__	__UNKNOWN__	__UNKNOWN__																																																											false	false		false	false			false	false	false		false	false	false	false	false	false	false	false	false	false	false	false	false	false	false	false	false	false	false	false	false	false		false		false		false	false	false				false					false																																														
+CCRL2		__UNKNOWN__	hg19	3	46450604	46450604	+	Nonstop_Mutation	SNP	A	A	C			__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	NA	NA	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	g.chr3:46450604A>C	ENST00000399036.3	+	2	1386	c.1034A>C	c.(1033-1035)tAa>tCa	p.*345S	CCRL2_ENST00000400882.2_Nonstop_Mutation_p.*345S|CCRL2_ENST00000400880.3_Nonstop_Mutation_p.*345S|CCRL2_ENST00000357392.4_Nonstop_Mutation_p.*357S|CCRL2_ENST00000441909.1_5'Flank|RP11-24F11.2_ENST00000451485.1_5'Flank						__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__								__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__		ACCGAAGTGTAAACTAGCATC	0.4538653366583541	__UNKNOWN__	__UNKNOWN__								__UNKNOWN__	__UNKNOWN__	__UNKNOWN__																																																											false	false		false	false			false	false	false		false	false	false	false	false	false	false	false	false	false	false	false	false	false	false	false	false	false	false	false	false	false		false		false		false	false	false				false					false																																														
 SPINK8		__UNKNOWN__	hg19	3	48369830	48369830	+	START_CODON_SNP	SNP	A	A	G			__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	NA	NA	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	g.chr3:48369830A>G	ENST00000434006.1	-	1	2	c.2T>C	c.(1-3)aTg>aCg	p.M1T							__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__								__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__		GATCCCCTTCATGGTGACAGA	0.3865336658354115	__UNKNOWN__	__UNKNOWN__								__UNKNOWN__	__UNKNOWN__	__UNKNOWN__																																																											false	false		false	false			false	false	false		false	false	false	false	false	false	false	false	false	false	false	false	false	false	false	false	false	false	false	false	false	false		false		false		false	false	false				false					false																																														
 TREX1		__UNKNOWN__	hg19	3	48506471	48506471	+	DE_NOVO_START_OUT_FRAME	SNP	C	C	T			__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	NA	NA	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	g.chr3:48506471C>T	ENST00000296443.9	+	1					ATRIP_ENST00000320211.3_Missense_Mutation_p.T766M|ATRIP_ENST00000412052.1_Missense_Mutation_p.T673M|ATRIP_ENST00000346691.4_Missense_Mutation_p.T739M|ATRIP_ENST00000357105.6_Missense_Mutation_p.T639M|TREX1_ENST00000422277.2_5'Flank|TREX1_ENST00000433541.1_5'Flank|TREX1_ENST00000436480.2_5'Flank|TREX1_ENST00000444177.1_5'Flank|TREX1_ENST00000456089.1_5'Flank|TREX1_ENST00000492235.1_5'Flank						__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__								__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__		CCTGATGTGACGGACTGTGAA	0.5985037406483791	__UNKNOWN__	__UNKNOWN__								__UNKNOWN__	__UNKNOWN__	__UNKNOWN__																																																											false	false		false	false			false	false	false		false	false	false	false	false	false	false	false	false	false	false	false	false	false	false	false	false	false	false	false	false	false		false		false		false	false	false				false					false																																														
-DALRD3		__UNKNOWN__	hg19	3	49053682	49053683	+	Frame_Shift_Ins	INS	-	-	T			__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	NA	NA	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	g.chr3:49053682_49053683insT	ENST00000440857.1	-	10	1440	c.736_737insA	c.(736-738)ctcfs	p.L246fs	DALRD3_ENST00000341949.4_Frame_Shift_Ins_p.L413fs|DALRD3_ENST00000313778.5_Frame_Shift_Ins_p.L246fs|DALRD3_ENST00000441576.2_Frame_Shift_Ins_p.L413fs|DALRD3_ENST00000395462.4_Frame_Shift_Ins_p.L246fs						__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__								__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__		CTCTCAAAGAGTGTGGCAAG	0.5525	__UNKNOWN__	__UNKNOWN__								__UNKNOWN__	__UNKNOWN__	__UNKNOWN__																																																											false	false		false	false			false	false	false		false	false	false	false	false	false	false	false	false	false	false	false	false	false	false	false	false	false	false	false	false	false		false		false		false	false	false				false					false																																														
+DALRD3		__UNKNOWN__	hg19	3	49053682	49053683	+	Frame_Shift_Ins	INS	-	-	T			__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	NA	NA	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	g.chr3:49053682_49053683insT	ENST00000440857.1	-	10	1440	c.736_737insA	c.(736-738)ctcfs	p.L246fs	DALRD3_ENST00000341949.4_Frame_Shift_Ins_p.L413fs|DALRD3_ENST00000313778.5_Frame_Shift_Ins_p.L246fs|DALRD3_ENST00000441576.2_Frame_Shift_Ins_p.L413fs|DALRD3_ENST00000395462.4_Frame_Shift_Ins_p.L246fs|NDUFAF3_ENST00000326912.4_5'Flank|NDUFAF3_ENST00000326925.6_5'Flank|NDUFAF3_ENST00000395458.2_5'Flank						__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__								__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__		CTCTCAAAGAGTGTGGCAAG	0.5525	__UNKNOWN__	__UNKNOWN__								__UNKNOWN__	__UNKNOWN__	__UNKNOWN__																																																											false	false		false	false			false	false	false		false	false	false	false	false	false	false	false	false	false	false	false	false	false	false	false	false	false	false	false	false	false		false		false		false	false	false				false					false																																														
 IQCF1		__UNKNOWN__	hg19	3	51928908	51928908	+	Nonstop_Mutation	SNP	A	A	G			__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	NA	NA	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	g.chr3:51928908A>G	ENST00000310914.5	-	4	679	c.616T>C	c.(616-618)Tga>Cga	p.*206R							__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__								__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__		AGACCACTTCATTCCTTTATT	0.5187032418952618	__UNKNOWN__	__UNKNOWN__								__UNKNOWN__	__UNKNOWN__	__UNKNOWN__																																																											false	false		false	false			false	false	false		false	false	false	false	false	false	false	false	false	false	false	false	false	false	false	false	false	false	false	false	false	false		false		false		false	false	false				false					false																																														
 ASB14		__UNKNOWN__	hg19	3	57310755	57310756	+	Splice_Site	INS	-	-	A			__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	NA	NA	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	g.chr3:57310755_57310756insA	ENST00000487349.1	-	10	1708	c.1586_1587insT	c.(1585-1587)acafs	p.N530fs	ASB14_ENST00000389601.3_Splice_Site_p.N530fs						__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__								__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__		GCGAGGGTTTGCTAAAAAGA	0.3725	__UNKNOWN__	__UNKNOWN__								__UNKNOWN__	__UNKNOWN__	__UNKNOWN__						FRAME_SHIFT_INS																																																					false	false		false	false			false	false	false		false	false	false	false	false	false	false	false	false	false	false	false	false	false	false	false	false	false	false	false	false	false		false		false		false	false	false				false					false																																														
 KBTBD8		__UNKNOWN__	hg19	3	67053976	67053977	+	Frame_Shift_Ins	INS	-	-	T			__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	NA	NA	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	g.chr3:67053976_67053977insT	ENST00000417314.2	+	3	634	c.585_586insT	c.(586-588)ctgfs	p.L196fs	KBTBD8_ENST00000460576.1_Intron|KBTBD8_ENST00000295568.4_Frame_Shift_Ins_p.L170fs|KBTBD8_ENST00000469661.1_Intron						__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__								__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__		AAAAGACCAACTGATAAGTA	0.3825	__UNKNOWN__	__UNKNOWN__								__UNKNOWN__	__UNKNOWN__	__UNKNOWN__																																																											false	false		false	false			false	false	false		false	false	false	false	false	false	false	false	false	false	false	false	false	false	false	false	false	false	false	false	false	false		false		false		false	false	false				false					false																																														
 OR5AC2		__UNKNOWN__	hg19	3	97806944	97806944	+	Nonstop_Mutation	SNP	T	T	C			__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	NA	NA	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	g.chr3:97806944T>C	ENST00000358642.2	+	1	928	c.928T>C	c.(928-930)Taa>Caa	p.*310Q							__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__								__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__		TATAAGGAAGTAAACAGTTCC	0.4114713216957606	__UNKNOWN__	__UNKNOWN__								__UNKNOWN__	__UNKNOWN__	__UNKNOWN__																																																											false	false		false	false			false	false	false		false	false	false	false	false	false	false	false	false	false	false	false	false	false	false	false	false	false	false	false	false	false		false		false		false	false	false				false					false																																														
-OR5H14		__UNKNOWN__	hg19	3	97869139	97869140	+	Frame_Shift_Ins	INS	-	-	C			__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	NA	NA	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	g.chr3:97869139_97869140insC	ENST00000437310.1	+	1	970	c.910_911insC	c.(910-912)atgfs	p.M304fs							__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__								__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__		TTCACAAAAATGTTCAAAAG	0.345	__UNKNOWN__	__UNKNOWN__								__UNKNOWN__	__UNKNOWN__	__UNKNOWN__																																																											false	false		false	false			false	false	false		false	false	false	false	false	false	false	false	false	false	false	false	false	false	false	false	false	false	false	false	false	false		false		false		false	false	false				false					false																																														
+OR5H14		__UNKNOWN__	hg19	3	97869139	97869140	+	Frame_Shift_Ins	INS	-	-	C			__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	NA	NA	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	g.chr3:97869139_97869140insC	ENST00000437310.1	+	1	970	c.910_911insC	c.(910-912)atgfs	p.M304fs	RP11-343D2.11_ENST00000508964.1_5'Flank						__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__								__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__		TTCACAAAAATGTTCAAAAG	0.345	__UNKNOWN__	__UNKNOWN__								__UNKNOWN__	__UNKNOWN__	__UNKNOWN__																																																											false	false		false	false			false	false	false		false	false	false	false	false	false	false	false	false	false	false	false	false	false	false	false	false	false	false	false	false	false		false		false		false	false	false				false					false																																														
 GPR128		__UNKNOWN__	hg19	3	100354621	100354621	+	DE_NOVO_START_OUT_FRAME	SNP	C	C	T			__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	NA	NA	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	g.chr3:100354621C>T	ENST00000475887.1	+	1					GPR128_ENST00000273352.3_Missense_Mutation_p.T183M						__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__								__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__		ACTAGTGCTACGCGAGTGGTT	0.371571072319202	__UNKNOWN__	__UNKNOWN__								__UNKNOWN__	__UNKNOWN__	__UNKNOWN__																																																											false	false		false	false			false	false	false		false	false	false	false	false	false	false	false	false	false	false	false	false	false	false	false	false	false	false	false	false	false		false		false		false	false	false				false					false																																														
 ABI3BP		__UNKNOWN__	hg19	3	100712249	100712249	+	START_CODON_SNP	SNP	T	T	C			__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	NA	NA	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	g.chr3:100712249T>C	ENST00000471714.1	-	1	111	c.1A>G	c.(1-3)Atg>Gtg	p.M1V	ABI3BP_ENST00000284322.5_START_CODON_SNP_p.M1V|ABI3BP_ENST00000495063.1_START_CODON_SNP_p.M1V						__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__								__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__		CCACCTCGCATGGGGAATGAT	0.4389027431421446	__UNKNOWN__	__UNKNOWN__								__UNKNOWN__	__UNKNOWN__	__UNKNOWN__																																																											false	false		false	false			false	false	false		false	false	false	false	false	false	false	false	false	false	false	false	false	false	false	false	false	false	false	false	false	false		false		false		false	false	false				false					false																																														
 IFT57		__UNKNOWN__	hg19	3	107941167	107941167	+	START_CODON_SNP	SNP	C	C	A			__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	NA	NA	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	g.chr3:107941167C>A	ENST00000264538.3	-	1	251	c.3G>T	c.(1-3)atG>atT	p.M1I							__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__								__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__		GAGCAGCAGTCATCGCAGAAC	0.6408977556109726	__UNKNOWN__	__UNKNOWN__								__UNKNOWN__	__UNKNOWN__	__UNKNOWN__																																																											false	false		false	false			false	false	false		false	false	false	false	false	false	false	false	false	false	false	false	false	false	false	false	false	false	false	false	false	false		false		false		false	false	false				false					false																																														
@@ -1524,10 +1524,10 @@ CD96		__UNKNOWN__	hg19	3	111261097	111261097	+	START_CODON_SNP	SNP	T	T	C			__UNK
 B4GALT4		__UNKNOWN__	hg19	3	118955888	118955888	+	DE_NOVO_START_OUT_FRAME	SNP	G	G	A			__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	NA	NA	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	g.chr3:118955888G>A	ENST00000483209.1	-	2					B4GALT4_ENST00000393765.2_DE_NOVO_START_OUT_FRAME|B4GALT4_ENST00000359213.3_DE_NOVO_START_OUT_FRAME|B4GALT4_ENST00000467604.1_DE_NOVO_START_OUT_FRAME|B4GALT4-AS1_ENST00000470790.1_RNA|B4GALT4_ENST00000460321.1_Intron						__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__								__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__		GGCAAGAGCCGTGGAAATCCA	0.4713216957605985	__UNKNOWN__	__UNKNOWN__								__UNKNOWN__	__UNKNOWN__	__UNKNOWN__																																																											false	false		false	false			false	false	false		false	false	false	false	false	false	false	false	false	false	false	false	false	false	false	false	false	false	false	false	false	false		false		false		false	false	false				false					false																																														
 GPR156		__UNKNOWN__	hg19	3	119912256	119912257	+	Frame_Shift_Ins	INS	-	-	T			__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	NA	NA	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	g.chr3:119912256_119912257insT	ENST00000464295.1	-	4	695	c.248_249insA	c.(247-249)tccfs	p.S84fs	GPR156_ENST00000461057.1_Frame_Shift_Ins_p.S84fs|GPR156_ENST00000315843.3_Frame_Shift_Ins_p.S84fs						__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__								__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__		ATTGGGACTGGACATCTTCA	0.425	__UNKNOWN__	__UNKNOWN__								__UNKNOWN__	__UNKNOWN__	__UNKNOWN__																																																											false	false		false	false			false	false	false		false	false	false	false	false	false	false	false	false	false	false	false	false	false	false	false	false	false	false	false	false	false		false		false		false	false	false				false					false																																														
 RABL3		__UNKNOWN__	hg19	3	120408670	120408670	+	Nonstop_Mutation	SNP	T	T	C			__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	NA	NA	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	g.chr3:120408670T>C	ENST00000273375.3	-	8	741	c.711A>G	c.(709-711)tgA>tgG	p.*237W	RABL3_ENST00000483733.1_Nonstop_Mutation_p.*213W|RABL3_ENST00000491398.1_Intron						__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__								__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__		TGAGTGTAATTCAGTCATAAT	0.3740648379052369	__UNKNOWN__	__UNKNOWN__								__UNKNOWN__	__UNKNOWN__	__UNKNOWN__																																																											false	false		false	false			false	false	false		false	false	false	false	false	false	false	false	false	false	false	false	false	false	false	false	false	false	false	false	false	false		false		false		false	false	false				false					false																																														
-WDR5B		__UNKNOWN__	hg19	3	122133383	122133383	+	Silent	SNP	T	T	C			__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	NA	NA	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	g.chr3:122133383T>C	ENST00000330689.4	-	1	1500	c.993A>G	c.(991-993)taA>taG	p.*331*							__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__								__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__		TTCAAAGGGATTAGTGGTTAC	0.3516209476309227	__UNKNOWN__	__UNKNOWN__								__UNKNOWN__	__UNKNOWN__	__UNKNOWN__																																																											false	false		false	false			false	false	false		false	false	false	false	false	false	false	false	false	false	false	false	false	false	false	false	false	false	false	false	false	false		false		false		false	false	false				false					false																																														
+WDR5B		__UNKNOWN__	hg19	3	122133383	122133383	+	Silent	SNP	T	T	C			__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	NA	NA	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	g.chr3:122133383T>C	ENST00000330689.4	-	1	1500	c.993A>G	c.(991-993)taA>taG	p.*331*	RP11-299J3.8_ENST00000608015.1_5'Flank|RP11-299J3.8_ENST00000608346.1_5'Flank|RP11-299J3.8_ENST00000608465.1_5'Flank|RP11-299J3.8_ENST00000608756.1_5'Flank|RP11-299J3.8_ENST00000609469.1_5'Flank						__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__								__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__		TTCAAAGGGATTAGTGGTTAC	0.3516209476309227	__UNKNOWN__	__UNKNOWN__								__UNKNOWN__	__UNKNOWN__	__UNKNOWN__																																																											false	false		false	false			false	false	false		false	false	false	false	false	false	false	false	false	false	false	false	false	false	false	false	false	false	false	false	false	false		false		false		false	false	false				false					false																																														
 KPNA1		__UNKNOWN__	hg19	3	122180151	122180152	+	Frame_Shift_Ins	INS	-	-	GGGA			__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	NA	NA	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	g.chr3:122180151_122180152insGGGA	ENST00000344337.6	-	5	529	c.351_352insTCCC	c.(352-354)attfs	p.I118fs	KPNA1_ENST00000466923.1_5'Flank						__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__								__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__		CTTCATCAATAGGAGGGTTA	0.3275	__UNKNOWN__	__UNKNOWN__								__UNKNOWN__	__UNKNOWN__	__UNKNOWN__																																																											false	false		false	false			false	false	false		false	false	false	false	false	false	false	false	false	false	false	false	false	false	false	false	false	false	false	false	false	false		false		false		false	false	false				false					false																																														
 COL6A6		__UNKNOWN__	hg19	3	130394240	130394240	+	Nonstop_Mutation	SNP	A	A	T			__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	NA	NA	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	g.chr3:130394240A>T	ENST00000358511.6	+	36	6822	c.6791A>T	c.(6790-6792)tAa>tTa	p.*2264L	COL6A6_ENST00000453409.2_Nonstop_Mutation_p.*2264L						__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__								__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__		CAACATGATTAAAAAAATGCT	0.371571072319202	__UNKNOWN__	__UNKNOWN__								__UNKNOWN__	__UNKNOWN__	__UNKNOWN__																																																											false	false		false	false			false	false	false		false	false	false	false	false	false	false	false	false	false	false	false	false	false	false	false	false	false	false	false	false	false		false		false		false	false	false				false					false																																														
-NUDT16		__UNKNOWN__	hg19	3	131102185	131102185	+	Silent	SNP	G	G	A			__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	NA	NA	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	g.chr3:131102185G>A	ENST00000521288.1	+	3	619	c.588G>A	c.(586-588)taG>taA	p.*196*	NUDT16_ENST00000502852.1_3'UTR|NUDT16_ENST00000359850.3_Silent_p.*163*|NUDT16_ENST00000537561.1_Intron						__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__								__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__		CTCATCACTAGAGGCAGCCCT	0.5087281795511222	__UNKNOWN__	__UNKNOWN__								__UNKNOWN__	__UNKNOWN__	__UNKNOWN__																																																											false	false		false	false			false	false	false		false	false	false	false	false	false	false	false	false	false	false	false	false	false	false	false	false	false	false	false	false	false		false		false		false	false	false				false					false																																														
+NUDT16		__UNKNOWN__	hg19	3	131102185	131102185	+	Silent	SNP	G	G	A			__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	NA	NA	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	g.chr3:131102185G>A	ENST00000521288.1	+	3	619	c.588G>A	c.(586-588)taG>taA	p.*196*	NUDT16_ENST00000502852.1_3'UTR|NUDT16_ENST00000359850.3_Silent_p.*163*|NUDT16_ENST00000537561.1_Intron|RP11-933H2.4_ENST00000502521.1_5'Flank						__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__								__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__		CTCATCACTAGAGGCAGCCCT	0.5087281795511222	__UNKNOWN__	__UNKNOWN__								__UNKNOWN__	__UNKNOWN__	__UNKNOWN__																																																											false	false		false	false			false	false	false		false	false	false	false	false	false	false	false	false	false	false	false	false	false	false	false	false	false	false	false	false	false		false		false		false	false	false				false					false																																														
 ACPP		__UNKNOWN__	hg19	3	132075720	132075720	+	Nonstop_Mutation	SNP	T	T	C			__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	NA	NA	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	g.chr3:132075720T>C	ENST00000475741.1	+	9	1111	c.1060T>C	c.(1060-1062)Tag>Cag	p.*354Q	ACPP_ENST00000351273.7_Intron|ACPP_ENST00000336375.5_Nonstop_Mutation_p.*387Q						__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__								__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__		CAGTACAGATTAGTGTGCACA	0.5087281795511222	__UNKNOWN__	__UNKNOWN__								__UNKNOWN__	__UNKNOWN__	__UNKNOWN__																																																											false	false		false	false			false	false	false		false	false	false	false	false	false	false	false	false	false	false	false	false	false	false	false	false	false	false	false	false	false		false		false		false	false	false				false					false																																														
 RYK		__UNKNOWN__	hg19	3	133928551	133928551	+	START_CODON_SNP	SNP	T	T	C			__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	NA	NA	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	g.chr3:133928551T>C	ENST00000427044.2	-	5	612	c.1A>G	c.(1-3)Atg>Gtg	p.M1V	RYK_ENST00000296084.4_Missense_Mutation_p.M191V						__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__								__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__		TTGTAGCACATTTTCCTTCGT	0.3192019950124688	__UNKNOWN__	__UNKNOWN__								__UNKNOWN__	__UNKNOWN__	__UNKNOWN__																																																											false	false		false	false			false	false	false		false	false	false	false	false	false	false	false	false	false	false	false	false	false	false	false	false	false	false	false	false	false		false		false		false	false	false				false					false																																														
 PCCB		__UNKNOWN__	hg19	3	136046015	136046016	+	Frame_Shift_Ins	INS	-	-	TA			__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	NA	NA	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	g.chr3:136046015_136046016insTA	ENST00000471595.1	+	12	1235	c.1217_1218insTA	c.(1216-1218)gggfs	p.G407fs	PCCB_ENST00000483687.1_Frame_Shift_Ins_p.G388fs|PCCB_ENST00000490504.1_Frame_Shift_Ins_p.G350fs|PCCB_ENST00000469217.1_Frame_Shift_Ins_p.G427fs|PCCB_ENST00000251654.4_Frame_Shift_Ins_p.G407fs|PCCB_ENST00000468777.1_Frame_Shift_Ins_p.G438fs|PCCB_ENST00000466072.1_Frame_Shift_Ins_p.G427fs|PCCB_ENST00000462637.1_Frame_Shift_Ins_p.G384fs|PCCB_ENST00000482086.1_Frame_Shift_Ins_p.G291fs|PCCB_ENST00000478469.1_Intron|PCCB_ENST00000474833.1_Intron						__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__								__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__		AGGAATACGGGGGCATCATC	0.5225	__UNKNOWN__	__UNKNOWN__								__UNKNOWN__	__UNKNOWN__	__UNKNOWN__																																																											false	false		false	false			false	false	false		false	false	false	false	false	false	false	false	false	false	false	false	false	false	false	false	false	false	false	false	false	false		false		false		false	false	false				false					false																																														
@@ -1550,7 +1550,7 @@ FAM193A		__UNKNOWN__	hg19	4	2632732	2632732	+	START_CODON_SNP	SNP	A	A	G			__UNKN
 SH3BP2		__UNKNOWN__	hg19	4	2835561	2835561	+	Nonstop_Mutation	SNP	A	A	G			__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	NA	NA	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	g.chr4:2835561A>G	ENST00000356331.5	+	13	1947	c.1686A>G	c.(1684-1686)tgA>tgG	p.*562W	SH3BP2_ENST00000511747.1_Nonstop_Mutation_p.*562W|SH3BP2_ENST00000435136.2_Nonstop_Mutation_p.*562W|SH3BP2_ENST00000452765.2_Nonstop_Mutation_p.*562W|SH3BP2_ENST00000442312.2_Nonstop_Mutation_p.*590W|SH3BP2_ENST00000503393.2_Nonstop_Mutation_p.*619W						__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__								__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__		GGCCTAGGTGATGGCAGTCCA	0.6408977556109726	__UNKNOWN__	__UNKNOWN__								__UNKNOWN__	__UNKNOWN__	__UNKNOWN__																																																											false	false		false	false			false	false	false		false	false	false	false	false	false	false	false	false	false	false	false	false	false	false	false	false	false	false	false	false	false		false		false		false	false	false				false					false																																														
 AFAP1		__UNKNOWN__	hg19	4	7765492	7765492	+	Nonstop_Mutation	SNP	C	C	G			__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	NA	NA	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	g.chr4:7765492C>G	ENST00000360265.4	-	16	2428	c.2193G>C	c.(2191-2193)taG>taC	p.*731Y	AFAP1_ENST00000382543.3_Nonstop_Mutation_p.*815Y|AFAP1_ENST00000358461.2_Nonstop_Mutation_p.*731Y|AFAP1_ENST00000420658.1_Nonstop_Mutation_p.*815Y|AFAP1-AS1_ENST00000608442.1_RNA|AFAP1_ENST00000513842.1_Intron						__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__								__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__		CTGCTGTCCCCTAGGTCCCGT	0.5411471321695761	__UNKNOWN__	__UNKNOWN__								__UNKNOWN__	__UNKNOWN__	__UNKNOWN__																																																											false	false		false	false			false	false	false		false	false	false	false	false	false	false	false	false	false	false	false	false	false	false	false	false	false	false	false	false	false		false		false		false	false	false				false					false																																														
 KLB		__UNKNOWN__	hg19	4	39450305	39450305	+	Silent	SNP	A	A	G			__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	NA	NA	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	g.chr4:39450305A>G	ENST00000257408.4	+	5	3231	c.3134A>G	c.(3133-3135)tAa>tGa	p.*1045*							__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__								__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__		GTTGTTAGCTAAACTGATCTG	0.38902743142144636	__UNKNOWN__	__UNKNOWN__								__UNKNOWN__	__UNKNOWN__	__UNKNOWN__																																																											false	false		false	false			false	false	false		false	false	false	false	false	false	false	false	false	false	false	false	false	false	false	false	false	false	false	false	false	false		false		false		false	false	false				false					false																																														
-NSUN7		__UNKNOWN__	hg19	4	40810351	40810351	+	Nonstop_Mutation	SNP	A	A	T			__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	NA	NA	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	g.chr4:40810351A>T	ENST00000316607.5	+	11	1895	c.1428A>T	c.(1426-1428)tgA>tgT	p.*476C	NSUN7_ENST00000381782.2_Missense_Mutation_p.N518Y						__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__								__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__		AGTGTCTGTGAATGATGTTTT	0.38403990024937656	__UNKNOWN__	__UNKNOWN__								__UNKNOWN__	__UNKNOWN__	__UNKNOWN__																																																											false	false		false	false			false	false	false		false	false	false	false	false	false	false	false	false	false	false	false	false	false	false	false	false	false	false	false	false	false		false		false		false	false	false				false					false																																														
+NSUN7		__UNKNOWN__	hg19	4	40810351	40810351	+	Nonstop_Mutation	SNP	A	A	T			__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	NA	NA	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	g.chr4:40810351A>T	ENST00000316607.5	+	11	1895	c.1428A>T	c.(1426-1428)tgA>tgT	p.*476C	NSUN7_ENST00000381782.2_Missense_Mutation_p.N518Y|RP11-632F7.3_ENST00000513127.1_5'Flank						__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__								__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__		AGTGTCTGTGAATGATGTTTT	0.38403990024937656	__UNKNOWN__	__UNKNOWN__								__UNKNOWN__	__UNKNOWN__	__UNKNOWN__																																																											false	false		false	false			false	false	false		false	false	false	false	false	false	false	false	false	false	false	false	false	false	false	false	false	false	false	false	false	false		false		false		false	false	false				false					false																																														
 LIMCH1		__UNKNOWN__	hg19	4	41663502	41663503	+	Frame_Shift_Ins	INS	-	-	T			__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	NA	NA	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	g.chr4:41663502_41663503insT	ENST00000514096.1	+	8	1690	c.1470_1471insT	c.(1471-1473)gggfs	p.G491fs	LIMCH1_ENST00000313860.7_Frame_Shift_Ins_p.G650fs|LIMCH1_ENST00000512946.1_Frame_Shift_Ins_p.G650fs|LIMCH1_ENST00000508501.1_Frame_Shift_Ins_p.G650fs|LIMCH1_ENST00000396595.3_Frame_Shift_Ins_p.G496fs|LIMCH1_ENST00000381753.4_Frame_Shift_Ins_p.G484fs|LIMCH1_ENST00000503057.1_Frame_Shift_Ins_p.G1035fs|LIMCH1_ENST00000513024.1_Frame_Shift_Ins_p.G479fs|LIMCH1_ENST00000512820.1_Frame_Shift_Ins_p.G638fs|LIMCH1_ENST00000512632.1_Frame_Shift_Ins_p.G650fs|LIMCH1_ENST00000509277.1_Frame_Shift_Ins_p.G484fs|LIMCH1_ENST00000511496.1_Frame_Shift_Ins_p.G491fs						__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__								__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__		ATCAAGAAAAGGGAATATAG	0.39	__UNKNOWN__	__UNKNOWN__								__UNKNOWN__	__UNKNOWN__	__UNKNOWN__																																																											false	false		false	false			false	false	false		false	false	false	false	false	false	false	false	false	false	false	false	false	false	false	false	false	false	false	false	false	false		false		false		false	false	false				false					false																																														
 ATP10D		__UNKNOWN__	hg19	4	47593397	47593397	+	Nonstop_Mutation	SNP	A	A	G			__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	NA	NA	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	g.chr4:47593397A>G	ENST00000273859.3	+	23	4549	c.4280A>G	c.(4279-4281)tAg>tGg	p.*1427W							__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__								__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__		AAAGAAAGCTAGATACCCTCC	0.4239401496259352	__UNKNOWN__	__UNKNOWN__								__UNKNOWN__	__UNKNOWN__	__UNKNOWN__																																																											false	false		false	false			false	false	false		false	false	false	false	false	false	false	false	false	false	false	false	false	false	false	false	false	false	false	false	false	false		false		false		false	false	false				false					false																																														
 SRP72		__UNKNOWN__	hg19	4	57350953	57350954	+	Frame_Shift_Ins	INS	-	-	G			__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	NA	NA	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	g.chr4:57350953_57350954insG	ENST00000342756.5	+	10	1730	c.1009_1010insG	c.(1009-1011)catfs	p.H337fs	SRP72_ENST00000510663.1_Frame_Shift_Ins_p.H276fs						__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__								__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__		AGTCCCGAGCATCTCTTACC	0.3725	__UNKNOWN__	__UNKNOWN__								__UNKNOWN__	__UNKNOWN__	__UNKNOWN__																																																											false	false		false	false			false	false	false		false	false	false	false	false	false	false	false	false	false	false	false	false	false	false	false	false	false	false	false	false	false		false		false		false	false	false				false					false																																														
@@ -1566,12 +1566,12 @@ C4orf36		__UNKNOWN__	hg19	4	87812672	87812672	+	START_CODON_SNP	SNP	A	A	G			__UN
 SPARCL1		__UNKNOWN__	hg19	4	88416233	88416233	+	DE_NOVO_START_IN_FRAME	SNP	G	G	A			__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	NA	NA	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	g.chr4:88416233G>A	ENST00000503414.1	-	4					SPARCL1_ENST00000282470.6_Missense_Mutation_p.T34M|SPARCL1_ENST00000418378.1_Missense_Mutation_p.T34M						__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__								__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__		AGGTGCTACCGTTTCAGCAGT	0.3117206982543641	__UNKNOWN__	__UNKNOWN__								__UNKNOWN__	__UNKNOWN__	__UNKNOWN__																																																											false	false		false	false			false	false	false		false	false	false	false	false	false	false	false	false	false	false	false	false	false	false	false	false	false	false	false	false	false		false		false		false	false	false				false					false																																														
 MMRN1		__UNKNOWN__	hg19	4	90830509	90830509	+	DE_NOVO_START_OUT_FRAME	SNP	G	G	T			__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	NA	NA	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	g.chr4:90830509G>T	ENST00000508372.1	+	2					MMRN1_ENST00000394980.1_Nonsense_Mutation_p.G236*|MMRN1_ENST00000264790.2_Nonsense_Mutation_p.G236*|MMRN1_ENST00000394981.1_Nonsense_Mutation_p.G202*						__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__								__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__		AGGTGGGAAAGGACCTTGTGG	0.3566084788029925	__UNKNOWN__	__UNKNOWN__								__UNKNOWN__	__UNKNOWN__	__UNKNOWN__																																																											false	false		false	false			false	false	false		false	false	false	false	false	false	false	false	false	false	false	false	false	false	false	false	false	false	false	false	false	false		false		false		false	false	false				false					false																																														
 ENPEP		__UNKNOWN__	hg19	4	111434635	111434636	+	Frame_Shift_Ins	INS	-	-	CG			__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	NA	NA	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	g.chr4:111434635_111434636insCG	ENST00000265162.5	+	7	1715	c.1373_1374insCG	c.(1372-1374)catfs	p.P459fs	RP11-380D23.1_ENST00000503998.1_RNA						__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__								__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__		TGTCTTCGCATCCAATTATT	0.325	__UNKNOWN__	__UNKNOWN__								__UNKNOWN__	__UNKNOWN__	__UNKNOWN__																																																											false	false		false	false			false	false	false		false	false	false	false	false	false	false	false	false	false	false	false	false	false	false	false	false	false	false	false	false	false		false		false		false	false	false				false					false																																														
-BBS7		__UNKNOWN__	hg19	4	122747017	122747017	+	Nonstop_Mutation	SNP	A	A	G			__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	NA	NA	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	g.chr4:122747017A>G	ENST00000264499.4	-	19	2330	c.2146T>C	c.(2146-2148)Tga>Cga	p.*716R							__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__								__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__		TTTGTATGTCATGCTGCATCG	0.2743142144638404	__UNKNOWN__	__UNKNOWN__								__UNKNOWN__	__UNKNOWN__	__UNKNOWN__																																																											false	false		false	false			false	false	false		false	false	false	false	false	false	false	false	false	false	false	false	false	false	false	false	false	false	false	false	false	false		false		false		false	false	false				false					false																																														
+BBS7		__UNKNOWN__	hg19	4	122747017	122747017	+	Nonstop_Mutation	SNP	A	A	G			__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	NA	NA	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	g.chr4:122747017A>G	ENST00000264499.4	-	19	2330	c.2146T>C	c.(2146-2148)Tga>Cga	p.*716R	CCNA2_ENST00000274026.5_5'Flank						__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__								__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__		TTTGTATGTCATGCTGCATCG	0.2743142144638404	__UNKNOWN__	__UNKNOWN__								__UNKNOWN__	__UNKNOWN__	__UNKNOWN__																																																											false	false		false	false			false	false	false		false	false	false	false	false	false	false	false	false	false	false	false	false	false	false	false	false	false	false	false	false	false		false		false		false	false	false				false					false																																														
 FAT4		__UNKNOWN__	hg19	4	126370567	126370568	+	Frame_Shift_Ins	INS	-	-	C			__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	NA	NA	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	g.chr4:126370567_126370568insC	ENST00000394329.3	+	9	8409	c.8396_8397insC	c.(8395-8397)gaafs	p.E2799fs	FAT4_ENST00000335110.5_Frame_Shift_Ins_p.E1097fs						__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__								__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__		CTTCTGATGAAGACATTGGG	0.385	__UNKNOWN__	__UNKNOWN__								__UNKNOWN__	__UNKNOWN__	__UNKNOWN__																																																											false	false		false	false			false	false	false		false	false	false	false	false	false	false	false	false	false	false	false	false	false	false	false	false	false	false	false	false	false		false		false		false	false	false				false					false																																														
 SLC25A31		__UNKNOWN__	hg19	4	128651703	128651703	+	START_CODON_SNP	SNP	G	G	T			__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	NA	NA	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	g.chr4:128651703G>T	ENST00000281154.4	+	1	171	c.3G>T	c.(1-3)atG>atT	p.M1I							__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__								__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__		TCTCCATCATGCATCGTGAGC	0.6134663341645885	__UNKNOWN__	__UNKNOWN__								__UNKNOWN__	__UNKNOWN__	__UNKNOWN__																																																											false	false		false	false			false	false	false		false	false	false	false	false	false	false	false	false	false	false	false	false	false	false	false	false	false	false	false	false	false		false		false		false	false	false				false					false																																														
 SCLT1		__UNKNOWN__	hg19	4	129805634	129805634	+	Nonstop_Mutation	SNP	A	A	G			__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	NA	NA	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	g.chr4:129805634A>G	ENST00000281142.5	-	21	2569	c.2065T>C	c.(2065-2067)Taa>Caa	p.*689Q	SCLT1_ENST00000503215.1_Nonstop_Mutation_p.*285Q|SCLT1_ENST00000439369.2_Nonstop_Mutation_p.*176Q|SCLT1_ENST00000434680.1_Nonstop_Mutation_p.*308Q|SCLT1_ENST00000502495.1_Intron						__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__								__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__		GAATATTTTTAAATATTTTCC	0.3341645885286783	__UNKNOWN__	__UNKNOWN__								__UNKNOWN__	__UNKNOWN__	__UNKNOWN__																																																											false	false		false	false			false	false	false		false	false	false	false	false	false	false	false	false	false	false	false	false	false	false	false	false	false	false	false	false	false		false		false		false	false	false				false					false																																														
 C4orf33		__UNKNOWN__	hg19	4	130032945	130032945	+	Nonstop_Mutation	SNP	A	A	G			__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	NA	NA	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	g.chr4:130032945A>G	ENST00000281146.5	+	6	1320	c.599A>G	c.(598-600)tAg>tGg	p.*200W	C4orf33_ENST00000425929.1_Nonstop_Mutation_p.*200W						__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__								__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__		TGTGATATATAGGAGTAATAG	0.30174563591022446	__UNKNOWN__	__UNKNOWN__								__UNKNOWN__	__UNKNOWN__	__UNKNOWN__																																																											false	false		false	false			false	false	false		false	false	false	false	false	false	false	false	false	false	false	false	false	false	false	false	false	false	false	false	false	false		false		false		false	false	false				false					false																																														
-FREM3		__UNKNOWN__	hg19	4	144618679	144618680	+	Frame_Shift_Ins	INS	-	-	C			__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	NA	NA	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	g.chr4:144618679_144618680insC	ENST00000329798.5	-	1	3150	c.3149_3150insG	c.(3148-3150)aatfs	p.N1050fs							__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__								__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__		TATTATGCTATTCCCCACTA	0.4775	__UNKNOWN__	__UNKNOWN__								__UNKNOWN__	__UNKNOWN__	__UNKNOWN__																																																											false	false		false	false			false	false	false		false	false	false	false	false	false	false	false	false	false	false	false	false	false	false	false	false	false	false	false	false	false		false		false		false	false	false				false					false																																														
+FREM3		__UNKNOWN__	hg19	4	144618679	144618680	+	Frame_Shift_Ins	INS	-	-	C			__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	NA	NA	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	g.chr4:144618679_144618680insC	ENST00000329798.5	-	1	3150	c.3149_3150insG	c.(3148-3150)aatfs	p.N1050fs	RP13-578N3.3_ENST00000499587.2_5'Flank						__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__								__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__		TATTATGCTATTCCCCACTA	0.4775	__UNKNOWN__	__UNKNOWN__								__UNKNOWN__	__UNKNOWN__	__UNKNOWN__																																																											false	false		false	false			false	false	false		false	false	false	false	false	false	false	false	false	false	false	false	false	false	false	false	false	false	false	false	false	false		false		false		false	false	false				false					false																																														
 PRSS48		__UNKNOWN__	hg19	4	152212603	152212603	+	Nonstop_Mutation	SNP	T	T	G			__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	NA	NA	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	g.chr4:152212603T>G	ENST00000455694.2	+	5	987	c.985T>G	c.(985-987)Taa>Gaa	p.*329E	PRSS48_ENST00000441586.2_Nonstop_Mutation_p.*186E|SH3D19_ENST00000604030.1_Intron						__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__								__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__		CAGGGGCAGATAACTCACAGG	0.42144638403990026	__UNKNOWN__	__UNKNOWN__								__UNKNOWN__	__UNKNOWN__	__UNKNOWN__																																																											false	false		false	false			false	false	false		false	false	false	false	false	false	false	false	false	false	false	false	false	false	false	false	false	false	false	false	false	false		false		false		false	false	false				false					false																																														
 DCHS2		__UNKNOWN__	hg19	4	155407595	155407595	+	Nonstop_Mutation	SNP	C	C	A			__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	NA	NA	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	g.chr4:155407595C>A	ENST00000456341.2	-	2	2109	c.2109G>T	c.(2107-2109)taG>taT	p.*703Y	DCHS2_ENST00000339452.1_Intron|DCHS2_ENST00000443500.1_Nonstop_Mutation_p.*710Y						__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__								__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__		TACAGGAAATCTAGGCAAGAT	0.4139650872817955	__UNKNOWN__	__UNKNOWN__								__UNKNOWN__	__UNKNOWN__	__UNKNOWN__																																																											false	false		false	false			false	false	false		false	false	false	false	false	false	false	false	false	false	false	false	false	false	false	false	false	false	false	false	false	false		false		false		false	false	false				false					false																																														
 MAP9		__UNKNOWN__	hg19	4	156274490	156274491	+	Frame_Shift_Ins	INS	-	-	C			__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	NA	NA	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	g.chr4:156274490_156274491insC	ENST00000311277.4	-	11	1647	c.1382_1383insG	c.(1381-1383)aaafs	p.A463fs	MAP9_ENST00000515654.1_Frame_Shift_Ins_p.A439fs|AC097467.2_ENST00000608463.1_RNA|AC097467.2_ENST00000610249.1_RNA|AC097467.2_ENST00000593387.2_RNA|AC097467.2_ENST00000609716.1_RNA|AC097467.2_ENST00000609486.1_RNA|AC097467.2_ENST00000598252.1_RNA|AC097467.2_ENST00000608544.1_RNA|AC097467.2_ENST00000609254.1_RNA|AC097467.2_ENST00000608092.1_RNA|AC097467.2_ENST00000597939.1_RNA|AC097467.2_ENST00000608406.1_RNA|AC097467.2_ENST00000601977.1_RNA|AC097467.2_ENST00000608762.1_RNA|AC097467.2_ENST00000417474.1_5'Flank|AC097467.2_ENST00000594492.1_5'Flank|AC097467.2_ENST00000594666.1_5'Flank|AC097467.2_ENST00000596165.1_5'Flank|AC097467.2_ENST00000596754.1_5'Flank|AC097467.2_ENST00000597831.1_5'Flank|AC097467.2_ENST00000598890.1_5'Flank|AC097467.2_ENST00000600928.1_5'Flank						__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__								__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__		AGCAGCTTTTTTCTACAGTG	0.2825	__UNKNOWN__	__UNKNOWN__								__UNKNOWN__	__UNKNOWN__	__UNKNOWN__																																																											false	false		false	false			false	false	false		false	false	false	false	false	false	false	false	false	false	false	false	false	false	false	false	false	false	false	false	false	false		false		false		false	false	false				false					false																																														
@@ -1579,11 +1579,11 @@ DDX60L		__UNKNOWN__	hg19	4	169279300	169279300	+	Nonstop_Mutation	SNP	A	A	G			__
 TRAPPC11		__UNKNOWN__	hg19	4	184633795	184633795	+	Nonstop_Mutation	SNP	T	T	C			__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	NA	NA	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	g.chr4:184633795T>C	ENST00000334690.6	+	30	3602	c.3400T>C	c.(3400-3402)Tga>Cga	p.*1134R	TRAPPC11_ENST00000512476.1_Nonstop_Mutation_p.*740R|TRAPPC11_ENST00000357207.4_3'UTR						__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__								__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__		TGCTGCTGCATGATGTTCAAG	0.3316708229426434	__UNKNOWN__	__UNKNOWN__								__UNKNOWN__	__UNKNOWN__	__UNKNOWN__																																																											false	false		false	false			false	false	false		false	false	false	false	false	false	false	false	false	false	false	false	false	false	false	false	false	false	false	false	false	false		false		false		false	false	false				false					false																																														
 MLF1IP		__UNKNOWN__	hg19	4	185655214	185655214	+	START_CODON_SNP	SNP	C	C	T			__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	NA	NA	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	g.chr4:185655214C>T	ENST00000281453.5	-	1	74	c.3G>A	c.(1-3)atG>atA	p.M1I	MLF1IP_ENST00000541971.1_START_CODON_SNP_p.M1I						__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__								__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__		CCCGCGGGGCCATGGTGCCGC	0.7007481296758105	__UNKNOWN__	__UNKNOWN__								__UNKNOWN__	__UNKNOWN__	__UNKNOWN__																																																											false	false		false	false			false	false	false		false	false	false	false	false	false	false	false	false	false	false	false	false	false	false	false	false	false	false	false	false	false		false		false		false	false	false				false					false																																														
 FAM173B		__UNKNOWN__	hg19	5	10235354	10235355	+	Frame_Shift_Ins	INS	-	-	C			__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	NA	NA	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	g.chr5:10235354_10235355insC	ENST00000511437.1	-	4	477	c.463_464insG	c.(463-465)tcgfs	p.S155fs	FAM173B_ENST00000510047.1_Intron|FAM173B_ENST00000280330.8_5'UTR|FAM173B_ENST00000510052.1_Intron						__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__								__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__		ACAACGTTCGAGTACTGCGA	0.42	__UNKNOWN__	__UNKNOWN__								__UNKNOWN__	__UNKNOWN__	__UNKNOWN__																																																											false	false		false	false			false	false	false		false	false	false	false	false	false	false	false	false	false	false	false	false	false	false	false	false	false	false	false	false	false		false		false		false	false	false				false					false																																														
-TARS		__UNKNOWN__	hg19	5	33441193	33441193	+	START_CODON_SNP	SNP	A	A	G			__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	NA	NA	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	g.chr5:33441193A>G	ENST00000455217.2	+	1	123	c.1A>G	c.(1-3)Atg>Gtg	p.M1V	TARS_ENST00000265112.3_START_CODON_SNP_p.M1V|TARS_ENST00000502553.1_START_CODON_SNP_p.M1V|TARS_ENST00000414361.2_5'UTR|TARS_ENST00000541634.1_5'UTR						__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__								__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__		TCGTTCGCCAATGTTTGAGGA	0.6583541147132169	__UNKNOWN__	__UNKNOWN__								__UNKNOWN__	__UNKNOWN__	__UNKNOWN__																																																											false	false		false	false			false	false	false		false	false	false	false	false	false	false	false	false	false	false	false	false	false	false	false	false	false	false	false	false	false		false		false		false	false	false				false					false																																														
+TARS		__UNKNOWN__	hg19	5	33441193	33441193	+	START_CODON_SNP	SNP	A	A	G			__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	NA	NA	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	g.chr5:33441193A>G	ENST00000455217.2	+	1	123	c.1A>G	c.(1-3)Atg>Gtg	p.M1V	TARS_ENST00000265112.3_START_CODON_SNP_p.M1V|TARS_ENST00000502553.1_START_CODON_SNP_p.M1V|TARS_ENST00000414361.2_5'UTR|TARS_ENST00000541634.1_5'UTR|CTD-2203K17.1_ENST00000507251.1_5'Flank						__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__								__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__		TCGTTCGCCAATGTTTGAGGA	0.6583541147132169	__UNKNOWN__	__UNKNOWN__								__UNKNOWN__	__UNKNOWN__	__UNKNOWN__																																																											false	false		false	false			false	false	false		false	false	false	false	false	false	false	false	false	false	false	false	false	false	false	false	false	false	false	false	false	false		false		false		false	false	false				false					false																																														
 NADK2		__UNKNOWN__	hg19	5	36227619	36227619	+	DE_NOVO_START_OUT_FRAME	SNP	T	T	C			__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	NA	NA	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	g.chr5:36227619T>C	ENST00000506945.1	-	2					NADK2_ENST00000381937.4_Missense_Mutation_p.I117V|NADK2_ENST00000397338.1_DE_NOVO_START_OUT_FRAME|NADK2_ENST00000282512.3_DE_NOVO_START_OUT_FRAME|NADK2_ENST00000514504.1_Missense_Mutation_p.I117V						__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__								__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__		TTGGTGTGAATATGATGTCGT	0.2817955112219451	__UNKNOWN__	__UNKNOWN__								__UNKNOWN__	__UNKNOWN__	__UNKNOWN__																																																											false	false		false	false			false	false	false		false	false	false	false	false	false	false	false	false	false	false	false	false	false	false	false	false	false	false	false	false	false		false		false		false	false	false				false					false																																														
 CCL28		__UNKNOWN__	hg19	5	43388500	43388500	+	START_CODON_SNP	SNP	A	A	T			__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	NA	NA	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	g.chr5:43388500A>T	ENST00000513525.1	-	2	309	c.2T>A	c.(1-3)aTg>aAg	p.M1K	CCL28_ENST00000361115.4_Missense_Mutation_p.M48K|CCL28_ENST00000537013.1_Missense_Mutation_p.M48K						__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__								__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__		GATGCGACACATATTCACTCT	0.4239401496259352	__UNKNOWN__	__UNKNOWN__								__UNKNOWN__	__UNKNOWN__	__UNKNOWN__																																																											false	false		false	false			false	false	false		false	false	false	false	false	false	false	false	false	false	false	false	false	false	false	false	false	false	false	false	false	false		false		false		false	false	false				false					false																																														
 NNT		__UNKNOWN__	hg19	5	43656769	43656770	+	Frame_Shift_Ins	INS	-	-	T			__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	NA	NA	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	g.chr5:43656769_43656770insT	ENST00000264663.5	+	16	2529	c.2308_2309insT	c.(2308-2310)gccfs	p.A770fs	NNT_ENST00000344920.4_Frame_Shift_Ins_p.A770fs|NNT_ENST00000512996.2_Frame_Shift_Ins_p.A639fs						__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__								__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__		CTGAAATCTGCCCCTCTCCT	0.415	__UNKNOWN__	__UNKNOWN__								__UNKNOWN__	__UNKNOWN__	__UNKNOWN__																																																											false	false		false	false			false	false	false		false	false	false	false	false	false	false	false	false	false	false	false	false	false	false	false	false	false	false	false	false	false		false		false		false	false	false				false					false																																														
-MRPS30		__UNKNOWN__	hg19	5	44809066	44809066	+	START_CODON_SNP	SNP	T	T	C			__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	NA	NA	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	g.chr5:44809066T>C	ENST00000507110.1	+	1	40	c.2T>C	c.(1-3)aTg>aCg	p.M1T							__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__								__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__		CGGGCAAAGATGGCGGCGGCC	0.5910224438902744	__UNKNOWN__	__UNKNOWN__								__UNKNOWN__	__UNKNOWN__	__UNKNOWN__																																																											false	false		false	false			false	false	false		false	false	false	false	false	false	false	false	false	false	false	false	false	false	false	false	false	false	false	false	false	false		false		false		false	false	false				false					false																																														
+MRPS30		__UNKNOWN__	hg19	5	44809066	44809066	+	START_CODON_SNP	SNP	T	T	C			__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	NA	NA	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	g.chr5:44809066T>C	ENST00000507110.1	+	1	40	c.2T>C	c.(1-3)aTg>aCg	p.M1T	RP11-53O19.1_ENST00000503179.1_5'Flank|RP11-53O19.1_ENST00000503452.1_5'Flank|RP11-53O19.1_ENST00000505302.1_5'Flank|RP11-53O19.1_ENST00000505401.1_5'Flank|RP11-53O19.1_ENST00000505637.1_5'Flank|RP11-53O19.1_ENST00000508123.1_5'Flank|RP11-53O19.1_ENST00000508945.1_5'Flank|RP11-53O19.1_ENST00000514597.1_5'Flank						__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__								__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__		CGGGCAAAGATGGCGGCGGCC	0.5910224438902744	__UNKNOWN__	__UNKNOWN__								__UNKNOWN__	__UNKNOWN__	__UNKNOWN__																																																											false	false		false	false			false	false	false		false	false	false	false	false	false	false	false	false	false	false	false	false	false	false	false	false	false	false	false	false	false		false		false		false	false	false				false					false																																														
 GZMK		__UNKNOWN__	hg19	5	54329753	54329756	+	Nonstop_Mutation	DEL	AA	AA	-			__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	NA	NA	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	g.chr5:54329753_54329754delAA	ENST00000231009.2	+	5	863_864	c.794_795delAA	c.(793-795)taafs	p.*265fs	CTD-2313F11.1_ENST00000609699.1_RNA|CTD-2313F11.1_ENST00000595218.1_RNA|CTD-2313F11.1_ENST00000596137.1_5'Flank|CTD-2313F11.1_ENST00000609792.1_5'Flank						__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__								__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__		CATACAAATTAAGTTACAAATA	0.39800995024875624	__UNKNOWN__	__UNKNOWN__								__UNKNOWN__	__UNKNOWN__	__UNKNOWN__																																																											false	false		false	false			false	false	false		false	false	false	false	false	false	false	false	false	false	false	false	false	false	false	false	false	false	false	false	false	false		false		false		false	false	false				false					false																																														
 AGGF1		__UNKNOWN__	hg19	5	76342200	76342201	+	Frame_Shift_Ins	INS	-	-	A			__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	NA	NA	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	g.chr5:76342200_76342201insA	ENST00000312916.7	+	6	1281	c.899_900insA	c.(898-900)ttcfs	p.F300fs							__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__								__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__		AAAAAGCCTTCAGTGTTGAA	0.3725	__UNKNOWN__	__UNKNOWN__								__UNKNOWN__	__UNKNOWN__	__UNKNOWN__																																																											false	false		false	false			false	false	false		false	false	false	false	false	false	false	false	false	false	false	false	false	false	false	false	false	false	false	false	false	false		false		false		false	false	false				false					false																																														
 FAM81B		__UNKNOWN__	hg19	5	94785984	94785984	+	Nonstop_Mutation	SNP	T	T	C			__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	NA	NA	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	g.chr5:94785984T>C	ENST00000283357.5	+	10	1403	c.1357T>C	c.(1357-1359)Taa>Caa	p.*453Q							__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__								__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__		CCAGGAAGTATAAACCTTTTC	0.32418952618453867	__UNKNOWN__	__UNKNOWN__								__UNKNOWN__	__UNKNOWN__	__UNKNOWN__																																																											false	false		false	false			false	false	false		false	false	false	false	false	false	false	false	false	false	false	false	false	false	false	false	false	false	false	false	false	false		false		false		false	false	false				false					false																																														
@@ -1594,7 +1594,7 @@ HSD17B4		__UNKNOWN__	hg19	5	118860923	118860924	+	Frame_Shift_Ins	INS	-	-	AA			_
 SRFBP1		__UNKNOWN__	hg19	5	121297728	121297728	+	START_CODON_SNP	SNP	A	A	G			__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	NA	NA	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	g.chr5:121297728A>G	ENST00000339397.4	+	1	73	c.1A>G	c.(1-3)Atg>Gtg	p.M1V							__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__								__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__		TTCATCTACCATGGCTCAGCC	0.57356608478803	__UNKNOWN__	__UNKNOWN__								__UNKNOWN__	__UNKNOWN__	__UNKNOWN__																																																											false	false		false	false			false	false	false		false	false	false	false	false	false	false	false	false	false	false	false	false	false	false	false	false	false	false	false	false	false		false		false		false	false	false				false					false																																														
 LEAP2		__UNKNOWN__	hg19	5	132208861	132208861	+	DE_NOVO_START_OUT_FRAME	SNP	C	C	T			__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	NA	NA	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	g.chr5:132208861C>T	ENST00000296877.2	+	1					LEAP2_ENST00000485457.1_5'Flank						__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__								__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__		AGCAAGTGGACGATCTGGGGA	0.4339152119700748	__UNKNOWN__	__UNKNOWN__								__UNKNOWN__	__UNKNOWN__	__UNKNOWN__																																																											false	false		false	false			false	false	false		false	false	false	false	false	false	false	false	false	false	false	false	false	false	false	false	false	false	false	false	false	false		false		false		false	false	false				false					false																																														
 SMAD5		__UNKNOWN__	hg19	5	135513085	135513086	+	Splice_Site	INS	-	-	C			__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	NA	NA	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	g.chr5:135513085_135513086insC	ENST00000545279.1	+	8	1674	c.1314_1315insC	c.(1315-1317)cttfs	p.L439fs	SMAD5_ENST00000545620.1_Splice_Site_p.L439fs|SMAD5_ENST00000514641.2_Intron						__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__								__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__		GATTGAGATTATCTTCATGG	0.36	__UNKNOWN__	__UNKNOWN__								__UNKNOWN__	__UNKNOWN__	__UNKNOWN__						FRAME_SHIFT_INS																																																					false	false		false	false			false	false	false		false	false	false	false	false	false	false	false	false	false	false	false	false	false	false	false	false	false	false	false	false	false		false		false		false	false	false				false					false																																														
-NME5		__UNKNOWN__	hg19	5	137451371	137451371	+	Nonstop_Mutation	SNP	T	T	A			__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	NA	NA	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	g.chr5:137451371T>A	ENST00000265191.2	-	6	688	c.638A>T	c.(637-639)tAa>tTa	p.*213L							__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__								__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__		ATTTTTTTTTTAATAAGGTTC	0.26433915211970077	__UNKNOWN__	__UNKNOWN__								__UNKNOWN__	__UNKNOWN__	__UNKNOWN__																																																											false	false		false	false			false	false	false		false	false	false	false	false	false	false	false	false	false	false	false	false	false	false	false	false	false	false	false	false	false		false		false		false	false	false				false					false																																														
+NME5		__UNKNOWN__	hg19	5	137451371	137451371	+	Nonstop_Mutation	SNP	T	T	A			__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	NA	NA	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	g.chr5:137451371T>A	ENST00000265191.2	-	6	688	c.638A>T	c.(637-639)tAa>tTa	p.*213L	RNU6-460P_ENST00000391158.1_5'Flank|snoU13_ENST00000459094.1_5'Flank						__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__								__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__		ATTTTTTTTTTAATAAGGTTC	0.26433915211970077	__UNKNOWN__	__UNKNOWN__								__UNKNOWN__	__UNKNOWN__	__UNKNOWN__																																																											false	false		false	false			false	false	false		false	false	false	false	false	false	false	false	false	false	false	false	false	false	false	false	false	false	false	false	false	false		false		false		false	false	false				false					false																																														
 LRRTM2		__UNKNOWN__	hg19	5	138210895	138210895	+	DE_NOVO_START_OUT_FRAME	SNP	C	C	A			__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	NA	NA	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	g.chr5:138210895C>A	ENST00000518785.1	-	1					LRRTM2_ENST00000521094.2_DE_NOVO_START_OUT_FRAME|CTNNA1_ENST00000518825.1_Intron|LRRTM2_ENST00000274711.6_DE_NOVO_START_OUT_FRAME|CTNNA1_ENST00000302763.7_Intron|CTNNA1_ENST00000355078.5_Intron|CTNNA1_ENST00000540387.1_5'Flank|CTNNA1_ENST00000520400.1_Intron|LRRTM2_ENST00000523537.1_Intron						__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__								__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__		CTTCAGTCTCCTTTCCGCAGC	0.4314214463840399	__UNKNOWN__	__UNKNOWN__								__UNKNOWN__	__UNKNOWN__	__UNKNOWN__																																																											false	false		false	false			false	false	false		false	false	false	false	false	false	false	false	false	false	false	false	false	false	false	false	false	false	false	false	false	false		false		false		false	false	false				false					false																																														
 IGIP		__UNKNOWN__	hg19	5	139508064	139508064	+	START_CODON_SNP	SNP	G	G	A			__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	NA	NA	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	g.chr5:139508064G>A	ENST00000333305.3	+	1	2544	c.3G>A	c.(1-3)atG>atA	p.M1I							__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__								__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__		TATTAAATATGTGCAGTTATT	0.35910224438902744	__UNKNOWN__	__UNKNOWN__								__UNKNOWN__	__UNKNOWN__	__UNKNOWN__																																																											false	false		false	false			false	false	false		false	false	false	false	false	false	false	false	false	false	false	false	false	false	false	false	false	false	false	false	false	false		false		false		false	false	false				false					false																																														
 PCDHA7		__UNKNOWN__	hg19	5	140213970	140213970	+	START_CODON_SNP	SNP	T	T	G			__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	NA	NA	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	g.chr5:140213970T>G	ENST00000525929.1	+	1	2	c.2T>G	c.(1-3)aTg>aGg	p.M1R	PCDHA6_ENST00000529310.1_Intron|PCDHA3_ENST00000522353.2_Intron|PCDHA2_ENST00000526136.1_Intron|PCDHA4_ENST00000530339.1_Intron|PCDHA5_ENST00000529859.1_Intron|PCDHA1_ENST00000504120.2_Intron|PCDHA1_ENST00000394633.3_Intron|PCDHA4_ENST00000512229.2_Intron|PCDHA5_ENST00000529619.1_Intron|PCDHA6_ENST00000527624.1_Intron|PCDHA7_ENST00000378125.3_Splice_Site_p.M1R						__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__								__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__		TAATTTGAAATGGTGTGCCCG	0.5087281795511222	__UNKNOWN__	__UNKNOWN__								__UNKNOWN__	__UNKNOWN__	__UNKNOWN__																																																											false	false		false	false			false	false	false		false	false	false	false	false	false	false	false	false	false	false	false	false	false	false	false	false	false	false	false	false	false		false		false		false	false	false				false					false																																														
@@ -1609,7 +1609,7 @@ FAM114A2		__UNKNOWN__	hg19	5	153409127	153409128	+	Frame_Shift_Ins	INS	-	-	A			_
 LCP2		__UNKNOWN__	hg19	5	169675703	169675703	+	Nonstop_Mutation	SNP	A	A	G			__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	NA	NA	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	g.chr5:169675703A>G	ENST00000046794.5	-	21	2216	c.1600T>C	c.(1600-1602)Tag>Cag	p.*534Q	LCP2_ENST00000521416.1_Nonstop_Mutation_p.*329Q|C5orf58_ENST00000517575.1_Intron						__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__								__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__		ATAACTTGCTATGGGTACCCT	0.4114713216957606	__UNKNOWN__	__UNKNOWN__								__UNKNOWN__	__UNKNOWN__	__UNKNOWN__																																																											false	false		false	false			false	false	false		false	false	false	false	false	false	false	false	false	false	false	false	false	false	false	false	false	false	false	false	false	false		false		false		false	false	false				false					false																																														
 DDX41		__UNKNOWN__	hg19	5	176943944	176943944	+	START_CODON_SNP	SNP	C	C	T			__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	NA	NA	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	g.chr5:176943944C>T	ENST00000507955.1	-	1	527	c.3G>A	c.(1-3)atG>atA	p.M1I	DDX41_ENST00000506965.1_Intron						__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__								__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__		CCGACTCCTCCATTCTTTGCT	0.6384039900249376	__UNKNOWN__	__UNKNOWN__								__UNKNOWN__	__UNKNOWN__	__UNKNOWN__																																																											false	false		false	false			false	false	false		false	false	false	false	false	false	false	false	false	false	false	false	false	false	false	false	false	false	false	false	false	false		false		false		false	false	false				false					false																																														
 OR2Y1		__UNKNOWN__	hg19	5	180167058	180167058	+	START_CODON_SNP	SNP	T	T	A			__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	NA	NA	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	g.chr5:180167058T>A	ENST00000307832.2	-	1	42	c.1A>T	c.(1-3)Atg>Ttg	p.M1L							__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__								__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__		AAACTTCCCATGGCCTTTTGC	0.4389027431421446	__UNKNOWN__	__UNKNOWN__								__UNKNOWN__	__UNKNOWN__	__UNKNOWN__																																																											false	false		false	false			false	false	false		false	false	false	false	false	false	false	false	false	false	false	false	false	false	false	false	false	false	false	false	false	false		false		false		false	false	false				false					false																																														
-TRIM7		__UNKNOWN__	hg19	5	180622167	180622167	+	Nonstop_Mutation	SNP	C	C	G			__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	NA	NA	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	g.chr5:180622167C>G	ENST00000274773.7	-	7	1597	c.1535G>C	c.(1534-1536)tGa>tCa	p.*512S	TRIM7_ENST00000393315.1_Nonstop_Mutation_p.*304S|TRIM7_ENST00000361809.3_Nonstop_Mutation_p.*304S|TRIM7_ENST00000393319.3_Nonstop_Mutation_p.*330S|TRIM7_ENST00000422067.2_Nonstop_Mutation_p.*304S|TRIM7_ENST00000504241.1_Intron						__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__								__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__		CAGTGCCCCTCAAGGCCAGAT	0.6583541147132169	__UNKNOWN__	__UNKNOWN__								__UNKNOWN__	__UNKNOWN__	__UNKNOWN__																																																											false	false		false	false			false	false	false		false	false	false	false	false	false	false	false	false	false	false	false	false	false	false	false	false	false	false	false	false	false		false		false		false	false	false				false					false																																														
+TRIM7		__UNKNOWN__	hg19	5	180622167	180622167	+	Nonstop_Mutation	SNP	C	C	G			__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	NA	NA	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	g.chr5:180622167C>G	ENST00000274773.7	-	7	1597	c.1535G>C	c.(1534-1536)tGa>tCa	p.*512S	TRIM7_ENST00000393315.1_Nonstop_Mutation_p.*304S|TRIM7_ENST00000361809.3_Nonstop_Mutation_p.*304S|TRIM7_ENST00000393319.3_Nonstop_Mutation_p.*330S|TRIM7_ENST00000422067.2_Nonstop_Mutation_p.*304S|TRIM7_ENST00000504241.1_Intron|CTC-338M12.6_ENST00000419707.2_5'Flank|CTC-338M12.6_ENST00000502812.2_5'Flank|CTC-338M12.6_ENST00000509080.1_5'Flank|CTC-338M12.6_ENST00000511517.1_5'Flank|CTC-338M12.6_ENST00000512508.1_5'Flank|CTC-338M12.2_ENST00000513771.1_5'Flank						__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__								__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__		CAGTGCCCCTCAAGGCCAGAT	0.6583541147132169	__UNKNOWN__	__UNKNOWN__								__UNKNOWN__	__UNKNOWN__	__UNKNOWN__																																																											false	false		false	false			false	false	false		false	false	false	false	false	false	false	false	false	false	false	false	false	false	false	false	false	false	false	false	false	false		false		false		false	false	false				false					false																																														
 FAM217A		__UNKNOWN__	hg19	6	4068932	4068932	+	Nonstop_Mutation	SNP	A	A	G			__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	NA	NA	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	g.chr6:4068932A>G	ENST00000274673.3	-	7	1929	c.1525T>C	c.(1525-1527)Taa>Caa	p.*509Q	FAM217A_ENST00000380188.2_Intron						__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__								__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__		GAAAAGAGTTATTTTTGTTCA	0.3790523690773067	__UNKNOWN__	__UNKNOWN__								__UNKNOWN__	__UNKNOWN__	__UNKNOWN__																																																											false	false		false	false			false	false	false		false	false	false	false	false	false	false	false	false	false	false	false	false	false	false	false	false	false	false	false	false	false		false		false		false	false	false				false					false																																														
 F13A1		__UNKNOWN__	hg19	6	6251131	6251132	+	Frame_Shift_Ins	INS	-	-	C			__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	NA	NA	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	g.chr6:6251131_6251132insC	ENST00000264870.3	-	5	869	c.602_603insG	c.(601-603)gaafs	p.R202fs							__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__								__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__		CTCTTCTCTTTCTTTCTCAT	0.355	__UNKNOWN__	__UNKNOWN__								__UNKNOWN__	__UNKNOWN__	__UNKNOWN__																																																											false	false		false	false			false	false	false		false	false	false	false	false	false	false	false	false	false	false	false	false	false	false	false	false	false	false	false	false	false		false		false		false	false	false				false					false																																														
 TPMT		__UNKNOWN__	hg19	6	18149358	18149358	+	START_CODON_SNP	SNP	T	T	C			__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	NA	NA	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	g.chr6:18149358T>C	ENST00000309983.4	-	2	87	c.1A>G	c.(1-3)Atg>Gtg	p.M1V							__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__								__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__		GTACCATCCATAGTTTCAGAG	0.34663341645885287	__UNKNOWN__	__UNKNOWN__								__UNKNOWN__	__UNKNOWN__	__UNKNOWN__																																																											false	false		false	false			false	false	false		false	false	false	false	false	false	false	false	false	false	false	false	false	false	false	false	false	false	false	false	false	false		false		false		false	false	false				false					false																																														
@@ -1617,15 +1617,15 @@ MRS2		__UNKNOWN__	hg19	6	24403275	24403275	+	START_CODON_SNP	SNP	A	A	G			__UNKNO
 ALDH5A1		__UNKNOWN__	hg19	6	24533938	24533938	+	Nonstop_Mutation	SNP	T	T	C			__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	NA	NA	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	g.chr6:24533938T>C	ENST00000491546.1	+	9	1652	c.1522T>C	c.(1522-1524)Tag>Cag	p.*508Q	ALDH5A1_ENST00000357578.3_Nonstop_Mutation_p.*536Q|ALDH5A1_ENST00000348925.2_Nonstop_Mutation_p.*549Q|ALDH5A1_ENST00000546278.1_Nonstop_Mutation_p.*448Q						__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__								__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__		CGGGGGCTTGTAGGATTCTTT	0.428927680798005	__UNKNOWN__	__UNKNOWN__								__UNKNOWN__	__UNKNOWN__	__UNKNOWN__																																																											false	false		false	false			false	false	false		false	false	false	false	false	false	false	false	false	false	false	false	false	false	false	false	false	false	false	false	false	false		false		false		false	false	false				false					false																																														
 ACOT13		__UNKNOWN__	hg19	6	24701770	24701771	+	Frame_Shift_Ins	INS	-	-	G			__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	NA	NA	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	g.chr6:24701770_24701771insG	ENST00000230048.4	+	3	543	c.350_351insG	c.(349-351)tctfs	p.V118fs	ACOT13_ENST00000537591.1_Frame_Shift_Ins_p.V95fs|RP1-30M3.5_ENST00000607014.1_RNA|ACOT13_ENST00000476436.1_Intron						__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__								__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__		CATTTACCTCTGTGGATCTG	0.35	__UNKNOWN__	__UNKNOWN__								__UNKNOWN__	__UNKNOWN__	__UNKNOWN__																																																											false	false		false	false			false	false	false		false	false	false	false	false	false	false	false	false	false	false	false	false	false	false	false	false	false	false	false	false	false		false		false		false	false	false				false					false																																														
 HIST1H4B		__UNKNOWN__	hg19	6	26027478	26027478	+	START_CODON_SNP	SNP	C	C	T			__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	NA	NA	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	g.chr6:26027478C>T	ENST00000377364.3	-	1	3	c.3G>A	c.(1-3)atG>atA	p.M1I							__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__								__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__		CGCGACCAGACATGTCTAACC	0.5211970074812967	__UNKNOWN__	__UNKNOWN__								__UNKNOWN__	__UNKNOWN__	__UNKNOWN__																																																											false	false		false	false			false	false	false		false	false	false	false	false	false	false	false	false	false	false	false	false	false	false	false	false	false	false	false	false	false		false		false		false	false	false				false					false																																														
-HIST1H2BG		__UNKNOWN__	hg19	6	26216869	26216869	+	START_CODON_SNP	SNP	C	C	A			__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	NA	NA	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	g.chr6:26216869C>A	ENST00000244601.3	-	1	4	c.3G>T	c.(1-3)atG>atT	p.M1I							__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__								__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__		CTGGTTCAGGCATGCTGTCAG	0.4488778054862843	__UNKNOWN__	__UNKNOWN__								__UNKNOWN__	__UNKNOWN__	__UNKNOWN__																																																											false	false		false	false			false	false	false		false	false	false	false	false	false	false	false	false	false	false	false	false	false	false	false	false	false	false	false	false	false		false		false		false	false	false				false					false																																														
-HIST1H2AH		__UNKNOWN__	hg19	6	27114910	27114910	+	START_CODON_SNP	SNP	G	G	A			__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	NA	NA	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	g.chr6:27114910G>A	ENST00000377459.1	+	1	50	c.3G>A	c.(1-3)atG>atA	p.M1I							__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__								__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__		TGACCAGTATGTCTGGACGTG	0.5361596009975063	__UNKNOWN__	__UNKNOWN__								__UNKNOWN__	__UNKNOWN__	__UNKNOWN__																																																											false	false		false	false			false	false	false		false	false	false	false	false	false	false	false	false	false	false	false	false	false	false	false	false	false	false	false	false	false		false		false		false	false	false				false					false																																														
-ZNF165		__UNKNOWN__	hg19	6	28056967	28056968	+	Frame_Shift_Ins	INS	-	-	C			__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	NA	NA	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	g.chr6:28056967_28056968insC	ENST00000377325.1	+	4	1733	c.1177_1178insC	c.(1177-1179)attfs	p.I393fs							__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__								__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__		CATCGGCGAATTCACACTGG	0.435	__UNKNOWN__	__UNKNOWN__								__UNKNOWN__	__UNKNOWN__	__UNKNOWN__																																																											false	false		false	false			false	false	false		false	false	false	false	false	false	false	false	false	false	false	false	false	false	false	false	false	false	false	false	false	false		false		false		false	false	false				false					false																																														
+HIST1H2BG		__UNKNOWN__	hg19	6	26216869	26216869	+	START_CODON_SNP	SNP	C	C	A			__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	NA	NA	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	g.chr6:26216869C>A	ENST00000244601.3	-	1	4	c.3G>T	c.(1-3)atG>atT	p.M1I	HIST1H2AE_ENST00000303910.2_5'Flank						__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__								__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__		CTGGTTCAGGCATGCTGTCAG	0.4488778054862843	__UNKNOWN__	__UNKNOWN__								__UNKNOWN__	__UNKNOWN__	__UNKNOWN__																																																											false	false		false	false			false	false	false		false	false	false	false	false	false	false	false	false	false	false	false	false	false	false	false	false	false	false	false	false	false		false		false		false	false	false				false					false																																														
+HIST1H2AH		__UNKNOWN__	hg19	6	27114910	27114910	+	START_CODON_SNP	SNP	G	G	A			__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	NA	NA	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	g.chr6:27114910G>A	ENST00000377459.1	+	1	50	c.3G>A	c.(1-3)atG>atA	p.M1I	HIST1H2BK_ENST00000356950.1_5'Flank|HIST1H2BK_ENST00000396891.4_5'Flank|MIR3143_ENST00000584253.1_5'Flank						__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__								__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__		TGACCAGTATGTCTGGACGTG	0.5361596009975063	__UNKNOWN__	__UNKNOWN__								__UNKNOWN__	__UNKNOWN__	__UNKNOWN__																																																											false	false		false	false			false	false	false		false	false	false	false	false	false	false	false	false	false	false	false	false	false	false	false	false	false	false	false	false	false		false		false		false	false	false				false					false																																														
+ZNF165		__UNKNOWN__	hg19	6	28056967	28056968	+	Frame_Shift_Ins	INS	-	-	C			__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	NA	NA	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	g.chr6:28056967_28056968insC	ENST00000377325.1	+	4	1733	c.1177_1178insC	c.(1177-1179)attfs	p.I393fs	ZSCAN12P1_ENST00000529104.1_5'Flank						__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__								__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__		CATCGGCGAATTCACACTGG	0.435	__UNKNOWN__	__UNKNOWN__								__UNKNOWN__	__UNKNOWN__	__UNKNOWN__																																																											false	false		false	false			false	false	false		false	false	false	false	false	false	false	false	false	false	false	false	false	false	false	false	false	false	false	false	false	false		false		false		false	false	false				false					false																																														
 HLA-G		__UNKNOWN__	hg19	6	29795623	29795623	+	START_CODON_SNP	SNP	T	T	C			__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	NA	NA	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	g.chr6:29795623T>C	ENST00000360323.6	+	1	26	c.2T>C	c.(1-3)aTg>aCg	p.M1T	HLA-G_ENST00000376828.2_Missense_Mutation_p.M6T|HLA-G_ENST00000376818.3_START_CODON_SNP_p.M1T|HLA-G_ENST00000376815.3_START_CODON_SNP_p.M1T|HLA-G_ENST00000428701.1_START_CODON_SNP_p.M1T						__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__								__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__		ACGCCAAGGATGGTGGTCATG	0.6758104738154613	__UNKNOWN__	__UNKNOWN__								__UNKNOWN__	__UNKNOWN__	__UNKNOWN__																																																											false	false		false	false			false	false	false		false	false	false	false	false	false	false	false	false	false	false	false	false	false	false	false	false	false	false	false	false	false		false		false		false	false	false				false					false																																														
 TRIM31		__UNKNOWN__	hg19	6	30080582	30080582	+	START_CODON_SNP	SNP	T	T	C			__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	NA	NA	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	g.chr6:30080582T>C	ENST00000376734.3	-	2	127	c.1A>G	c.(1-3)Atg>Gtg	p.M1V	TRIM31_ENST00000540829.1_START_CODON_SNP_p.M1V|TRIM31_ENST00000485864.1_5'Flank|TRIM31-AS1_ENST00000440874.1_RNA						__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__								__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__		CCACTGGCCATGACAGAACAA	0.46633416458852867	__UNKNOWN__	__UNKNOWN__								__UNKNOWN__	__UNKNOWN__	__UNKNOWN__																																																											false	false		false	false			false	false	false		false	false	false	false	false	false	false	false	false	false	false	false	false	false	false	false	false	false	false	false	false	false		false		false		false	false	false				false					false																																														
 NEU1		__UNKNOWN__	hg19	6	31828246	31828247	+	Frame_Shift_Ins	INS	-	-	CT			__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	NA	NA	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	g.chr6:31828246_31828247insCT	ENST00000375631.4	-	4	898	c.767_768insAG	c.(766-768)cagfs	p.E257fs							__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__								__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__		ATCATTTTCCTGCTTGGGCT	0.5925	__UNKNOWN__	__UNKNOWN__								__UNKNOWN__	__UNKNOWN__	__UNKNOWN__																																																											false	false		false	false			false	false	false		false	false	false	false	false	false	false	false	false	false	false	false	false	false	false	false	false	false	false	false	false	false		false		false		false	false	false				false					false																																														
 HLA-DQB2		__UNKNOWN__	hg19	6	32731258	32731258	+	DE_NOVO_START_IN_FRAME	SNP	G	G	A			__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	NA	NA	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	g.chr6:32731258G>A	ENST00000437316.2	-	1					HLA-DQB2_ENST00000435145.2_DE_NOVO_START_IN_FRAME|HLA-DQB2_ENST00000411527.1_DE_NOVO_START_IN_FRAME						__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__								__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__		CTTCCAAGACGTAAGTGAGAC	0.5236907730673317	__UNKNOWN__	__UNKNOWN__								__UNKNOWN__	__UNKNOWN__	__UNKNOWN__																																																											false	false		false	false			false	false	false		false	false	false	false	false	false	false	false	false	false	false	false	false	false	false	false	false	false	false	false	false	false		false		false		false	false	false				false					false																																														
 HLA-DQB2		__UNKNOWN__	hg19	6	32731258	32731258	+	DE_NOVO_START_IN_FRAME	SNP	G	G	A			__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	NA	NA	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	g.chr6:32731258G>A	ENST00000437316.2	-	1					HLA-DQB2_ENST00000435145.2_DE_NOVO_START_IN_FRAME|HLA-DQB2_ENST00000411527.1_DE_NOVO_START_IN_FRAME						__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__								__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__		CTTCCAAGACGTAAGTGAGAC	0.5236907730673317	__UNKNOWN__	__UNKNOWN__								__UNKNOWN__	__UNKNOWN__	__UNKNOWN__																																																											false	false		false	false			false	false	false		false	false	false	false	false	false	false	false	false	false	false	false	false	false	false	false	false	false	false	false	false	false		false		false		false	false	false				false					false																																														
-HSD17B8		__UNKNOWN__	hg19	6	33172446	33172446	+	START_CODON_SNP	SNP	A	A	G			__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	NA	NA	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	g.chr6:33172446A>G	ENST00000374662.3	+	1	28	c.1A>G	c.(1-3)Atg>Gtg	p.M1V	HSD17B8_ENST00000469186.1_5'Flank						__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__								__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__		ACAGCCCGCCATGGCGTCTCA	0.6658354114713217	__UNKNOWN__	__UNKNOWN__								__UNKNOWN__	__UNKNOWN__	__UNKNOWN__																																																											false	false		false	false			false	false	false		false	false	false	false	false	false	false	false	false	false	false	false	false	false	false	false	false	false	false	false	false	false		false		false		false	false	false				false					false																																														
+HSD17B8		__UNKNOWN__	hg19	6	33172446	33172446	+	START_CODON_SNP	SNP	A	A	G			__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	NA	NA	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	g.chr6:33172446A>G	ENST00000374662.3	+	1	28	c.1A>G	c.(1-3)Atg>Gtg	p.M1V	RING1_ENST00000374656.4_5'Flank|RXRB_ENST00000374680.3_5'Flank|RXRB_ENST00000374685.4_5'Flank|RXRB_ENST00000413614.2_5'Flank|HSD17B8_ENST00000469186.1_5'Flank|RING1_ENST00000478431.1_5'Flank|RXRB_ENST00000544186.1_5'Flank|MIR219-1_ENST00000362166.1_5'Flank						__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__								__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__		ACAGCCCGCCATGGCGTCTCA	0.6658354114713217	__UNKNOWN__	__UNKNOWN__								__UNKNOWN__	__UNKNOWN__	__UNKNOWN__																																																											false	false		false	false			false	false	false		false	false	false	false	false	false	false	false	false	false	false	false	false	false	false	false	false	false	false	false	false	false		false		false		false	false	false				false					false																																														
 KIF6		__UNKNOWN__	hg19	6	39554075	39554076	+	Frame_Shift_Ins	INS	-	-	GC			__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	NA	NA	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	g.chr6:39554075_39554076insGC	ENST00000287152.7	-	8	1047	c.951_952insGC	c.(952-954)atgfs	p.M318fs	KIF6_ENST00000373215.3_Frame_Shift_Ins_p.M318fs|KIF6_ENST00000373216.3_Frame_Shift_Ins_p.M318fs|KIF6_ENST00000373213.4_Frame_Shift_Ins_p.M157fs|KIF6_ENST00000538893.1_Frame_Shift_Ins_p.M318fs						__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__								__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__		TTGCAATCATAGTTGTCATG	0.425	__UNKNOWN__	__UNKNOWN__								__UNKNOWN__	__UNKNOWN__	__UNKNOWN__																																																											false	false		false	false			false	false	false		false	false	false	false	false	false	false	false	false	false	false	false	false	false	false	false	false	false	false	false	false	false		false		false		false	false	false				false					false																																														
 TBCC		__UNKNOWN__	hg19	6	42713809	42713809	+	START_CODON_SNP	SNP	C	C	T			__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	NA	NA	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	g.chr6:42713809C>T	ENST00000372876.1	-	1	26	c.3G>A	c.(1-3)atG>atA	p.M1I	TBCC_ENST00000244625.2_START_CODON_SNP_p.M1I						__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__								__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__		TGACGGACTCCATATTGGCTT	0.5960099750623441	__UNKNOWN__	__UNKNOWN__								__UNKNOWN__	__UNKNOWN__	__UNKNOWN__																																																											false	false		false	false			false	false	false		false	false	false	false	false	false	false	false	false	false	false	false	false	false	false	false	false	false	false	false	false	false		false		false		false	false	false				false					false																																														
 TBCC		__UNKNOWN__	hg19	6	42713810	42713810	+	START_CODON_SNP	SNP	A	A	C			__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	NA	NA	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	g.chr6:42713810A>C	ENST00000372876.1	-	1	25	c.2T>G	c.(1-3)aTg>aGg	p.M1R	TBCC_ENST00000244625.2_START_CODON_SNP_p.M1R						__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__								__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__		GACGGACTCCATATTGGCTTC	0.5935162094763092	__UNKNOWN__	__UNKNOWN__								__UNKNOWN__	__UNKNOWN__	__UNKNOWN__																																																											false	false		false	false			false	false	false		false	false	false	false	false	false	false	false	false	false	false	false	false	false	false	false	false	false	false	false	false	false		false		false		false	false	false				false					false																																														
@@ -1633,7 +1633,7 @@ C6orf226		__UNKNOWN__	hg19	6	42858524	42858524	+	START_CODON_SNP	SNP	C	C	T			__U
 RHAG		__UNKNOWN__	hg19	6	49604523	49604523	+	START_CODON_SNP	SNP	C	C	A			__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	NA	NA	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	g.chr6:49604523C>A	ENST00000371175.4	-	1	30	c.3G>T	c.(1-3)atG>atT	p.M1I	RHAG_ENST00000229810.7_START_CODON_SNP_p.M1I						__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__								__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__		ATGTGAACCTCATGTTTGTGG	0.41895261845386533	__UNKNOWN__	__UNKNOWN__								__UNKNOWN__	__UNKNOWN__	__UNKNOWN__																																																											false	false		false	false			false	false	false		false	false	false	false	false	false	false	false	false	false	false	false	false	false	false	false	false	false	false	false	false	false		false		false		false	false	false				false					false																																														
 EFHC1		__UNKNOWN__	hg19	6	52285209	52285209	+	START_CODON_SNP	SNP	A	A	G			__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	NA	NA	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	g.chr6:52285209A>G	ENST00000371068.5	+	1	104	c.1A>G	c.(1-3)Atg>Gtg	p.M1V	EFHC1_ENST00000433625.2_5'UTR|EFHC1_ENST00000538167.1_5'Flank|EFHC1_ENST00000491749.1_Intron						__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__								__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__		ACCGGCTGCAATGGTGTCCAA	0.6134663341645885	__UNKNOWN__	__UNKNOWN__								__UNKNOWN__	__UNKNOWN__	__UNKNOWN__																																																											false	false		false	false			false	false	false		false	false	false	false	false	false	false	false	false	false	false	false	false	false	false	false	false	false	false	false	false	false		false		false		false	false	false				false					false																																														
 IMPG1		__UNKNOWN__	hg19	6	76782204	76782204	+	START_CODON_SNP	SNP	A	A	T			__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	NA	NA	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	g.chr6:76782204A>T	ENST00000369950.3	-	1	192	c.2T>A	c.(1-3)aTg>aAg	p.M1K	IMPG1_ENST00000369963.3_START_CODON_SNP_p.M1K						__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__								__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__		TTCCAAATACATTCTGGCTTT	0.3167082294264339	__UNKNOWN__	__UNKNOWN__								__UNKNOWN__	__UNKNOWN__	__UNKNOWN__																																																											false	false		false	false			false	false	false		false	false	false	false	false	false	false	false	false	false	false	false	false	false	false	false	false	false	false	false	false	false		false		false		false	false	false				false					false																																														
-RIPPLY2		__UNKNOWN__	hg19	6	84567107	84567107	+	Nonstop_Mutation	SNP	A	A	C			__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	NA	NA	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	g.chr6:84567107A>C	ENST00000369689.1	+	4	537	c.386A>C	c.(385-387)tAa>tCa	p.*129S	RIPPLY2_ENST00000369687.1_Nonstop_Mutation_p.*71S						__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__								__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__		TGTGAAAATTAATCTGATTAG	0.2793017456359102	__UNKNOWN__	__UNKNOWN__								__UNKNOWN__	__UNKNOWN__	__UNKNOWN__																																																											false	false		false	false			false	false	false		false	false	false	false	false	false	false	false	false	false	false	false	false	false	false	false	false	false	false	false	false	false		false		false		false	false	false				false					false																																														
+RIPPLY2		__UNKNOWN__	hg19	6	84567107	84567107	+	Nonstop_Mutation	SNP	A	A	C			__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	NA	NA	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	g.chr6:84567107A>C	ENST00000369689.1	+	4	537	c.386A>C	c.(385-387)tAa>tCa	p.*129S	RIPPLY2_ENST00000369687.1_Nonstop_Mutation_p.*71S|CYB5R4_ENST00000369679.4_5'Flank|CYB5R4_ENST00000369681.5_5'Flank						__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__								__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__		TGTGAAAATTAATCTGATTAG	0.2793017456359102	__UNKNOWN__	__UNKNOWN__								__UNKNOWN__	__UNKNOWN__	__UNKNOWN__																																																											false	false		false	false			false	false	false		false	false	false	false	false	false	false	false	false	false	false	false	false	false	false	false	false	false	false	false	false	false		false		false		false	false	false				false					false																																														
 RARS2		__UNKNOWN__	hg19	6	88255395	88255400	+	In_Frame_Del	DEL	TTT	TTT	-	757743894	byFrequency	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	NA	NA	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	g.chr6:88255395_88255397delTTT	ENST00000369536.5	-	7	521_523	c.472_474delAAA	c.(472-474)aaadel	p.K158del							__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__								__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__		CTAAAGCTTCTTTGAGATTTGCT	0.2903225806451613	__UNKNOWN__	__UNKNOWN__								__UNKNOWN__	__UNKNOWN__	__UNKNOWN__																																																											true	false		false	false			false	false	false	RARS2:57038	false	true	false	false	false	false	false	false	false	false	false	false	false	false	false	false	false	false	false	false	false	false	0	false	0	false	0.999966,3.4343e-005	false	false	false	DIV	0x050000000005040402000200	1	false	144	rs757743894		88255395	true																																														
 AK9		__UNKNOWN__	hg19	6	109954114	109954114	+	Nonstop_Mutation	SNP	T	T	A			__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	NA	NA	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	g.chr6:109954114T>A	ENST00000285397.5	-	12	1348	c.1266A>T	c.(1264-1266)taA>taT	p.*422Y	AK9_ENST00000368948.2_Intron|AK9_ENST00000424296.2_Intron|AK9_ENST00000341338.6_Intron						__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__								__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__		AGACAGATAGTTAGTTAGTCA	0.33915211970074816	__UNKNOWN__	__UNKNOWN__								__UNKNOWN__	__UNKNOWN__	__UNKNOWN__																																																											false	false		false	false			false	false	false		false	false	false	false	false	false	false	false	false	false	false	false	false	false	false	false	false	false	false	false	false	false		false		false		false	false	false				false					false																																														
 RFX6		__UNKNOWN__	hg19	6	117249986	117249987	+	Frame_Shift_Ins	INS	-	-	A			__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	NA	NA	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	g.chr6:117249986_117249987insA	ENST00000332958.2	+	18	2479	c.2463_2464insA	c.(2464-2466)gttfs	p.V822fs							__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__								__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__		GAATCAGCACGTTTCTGTCA	0.3925	__UNKNOWN__	__UNKNOWN__								__UNKNOWN__	__UNKNOWN__	__UNKNOWN__																																																											false	false		false	false			false	false	false		false	false	false	false	false	false	false	false	false	false	false	false	false	false	false	false	false	false	false	false	false	false		false		false		false	false	false				false					false																																														
@@ -1659,7 +1659,7 @@ GNG11		__UNKNOWN__	hg19	7	93551452	93551452	+	START_CODON_SNP	SNP	G	G	C			__UNKN
 CYP3A5		__UNKNOWN__	hg19	7	99264234	99264235	+	Frame_Shift_Ins	INS	-	-	A			__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	NA	NA	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	g.chr7:99264234_99264235insA	ENST00000222982.4	-	6	611	c.510_511insT	c.(511-513)accfs	p.T171fs	CYP3A5_ENST00000343703.5_Frame_Shift_Ins_p.T161fs|CYP3A5_ENST00000339843.2_3'UTR						__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__								__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__		CTTTCAAGGTGACAGGCTTG	0.5025	__UNKNOWN__	__UNKNOWN__								__UNKNOWN__	__UNKNOWN__	__UNKNOWN__																																																											false	false		false	false			false	false	false		false	false	false	false	false	false	false	false	false	false	false	false	false	false	false	false	false	false	false	false	false	false		false		false		false	false	false				false					false																																														
 TRIM4		__UNKNOWN__	hg19	7	99514391	99514392	+	Frame_Shift_Ins	INS	-	-	C			__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	NA	NA	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	g.chr7:99514391_99514392insC	ENST00000355947.2	-	2	535	c.404_405insG	c.(403-405)tttfs	p.F135fs	TRIM4_ENST00000349062.2_Intron|TRIM4_ENST00000354241.5_Intron						__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__								__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__		GTGGATGTCAAAGTTACCTG	0.4375	__UNKNOWN__	__UNKNOWN__								__UNKNOWN__	__UNKNOWN__	__UNKNOWN__																																																											false	false		false	false			false	false	false		false	false	false	false	false	false	false	false	false	false	false	false	false	false	false	false	false	false	false	false	false	false		false		false		false	false	false				false					false																																														
 GJC3		__UNKNOWN__	hg19	7	99527243	99527243	+	START_CODON_SNP	SNP	T	T	C			__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	NA	NA	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	g.chr7:99527243T>C	ENST00000312891.2	-	1	1	c.1A>G	c.(1-3)Atg>Gtg	p.M1V	RP4-604G5.1_ENST00000456499.1_RNA						__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__								__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__		CTGCCACACATCCTGTTTTGG	0.5336658354114713	__UNKNOWN__	__UNKNOWN__								__UNKNOWN__	__UNKNOWN__	__UNKNOWN__																																																											false	false		false	false			false	false	false		false	false	false	false	false	false	false	false	false	false	false	false	false	false	false	false	false	false	false	false	false	false		false		false		false	false	false				false					false																																														
-GAL3ST4		__UNKNOWN__	hg19	7	99757553	99757553	+	Nonstop_Mutation	SNP	A	A	G			__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	NA	NA	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	g.chr7:99757553A>G	ENST00000360039.4	-	4	1852	c.1459T>C	c.(1459-1461)Taa>Caa	p.*487Q	GAL3ST4_ENST00000413800.1_Nonstop_Mutation_p.*487Q|GAL3ST4_ENST00000423751.1_3'UTR|GAL3ST4_ENST00000411994.1_3'UTR|GAL3ST4_ENST00000426974.2_Nonstop_Mutation_p.*425Q						__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__								__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__		TCTGATGTTTATGGGGAGAGT	0.5486284289276808	__UNKNOWN__	__UNKNOWN__								__UNKNOWN__	__UNKNOWN__	__UNKNOWN__																																																											false	false		false	false			false	false	false		false	false	false	false	false	false	false	false	false	false	false	false	false	false	false	false	false	false	false	false	false	false		false		false		false	false	false				false					false																																														
+GAL3ST4		__UNKNOWN__	hg19	7	99757553	99757553	+	Nonstop_Mutation	SNP	A	A	G			__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	NA	NA	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	g.chr7:99757553A>G	ENST00000360039.4	-	4	1852	c.1459T>C	c.(1459-1461)Taa>Caa	p.*487Q	GAL3ST4_ENST00000413800.1_Nonstop_Mutation_p.*487Q|GAL3ST4_ENST00000423751.1_3'UTR|GAL3ST4_ENST00000411994.1_3'UTR|GAL3ST4_ENST00000426974.2_Nonstop_Mutation_p.*425Q|C7orf43_ENST00000316937.3_5'Flank|C7orf43_ENST00000394035.2_5'Flank|C7orf43_ENST00000419841.1_5'Flank|C7orf43_ENST00000457641.1_5'Flank|C7orf43_ENST00000498638.1_5'Flank|MIR4658_ENST00000584344.1_5'Flank						__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__								__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__		TCTGATGTTTATGGGGAGAGT	0.5486284289276808	__UNKNOWN__	__UNKNOWN__								__UNKNOWN__	__UNKNOWN__	__UNKNOWN__																																																											false	false		false	false			false	false	false		false	false	false	false	false	false	false	false	false	false	false	false	false	false	false	false	false	false	false	false	false	false		false		false		false	false	false				false					false																																														
 UFSP1		__UNKNOWN__	hg19	7	100486464	100486464	+	Nonstop_Mutation	SNP	T	T	G			__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	NA	NA	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	g.chr7:100486464T>G	ENST00000388761.2	-	1	876	c.429A>C	c.(427-429)tgA>tgC	p.*143C							__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__								__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__		AACTTCGTCCTCAGTCCAAGG	0.5411471321695761	__UNKNOWN__	__UNKNOWN__								__UNKNOWN__	__UNKNOWN__	__UNKNOWN__																																																											false	false		false	false			false	false	false		false	false	false	false	false	false	false	false	false	false	false	false	false	false	false	false	false	false	false	false	false	false		false		false		false	false	false				false					false																																														
 FBXL13		__UNKNOWN__	hg19	7	102524676	102524677	+	Frame_Shift_Ins	INS	-	-	A			__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	NA	NA	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	g.chr7:102524676_102524677insA	ENST00000313221.4	-	12	1519	c.1091_1092insT	c.(1090-1092)acgfs	p.D365fs	FBXL13_ENST00000436908.1_Frame_Shift_Ins_p.D365fs|FBXL13_ENST00000393772.2_Frame_Shift_Ins_p.D365fs|FBXL13_ENST00000379308.3_Frame_Shift_Ins_p.D365fs|FBXL13_ENST00000379305.3_Frame_Shift_Ins_p.D365fs|FBXL13_ENST00000455112.2_Frame_Shift_Ins_p.D365fs|FBXL13_ENST00000379306.3_Intron|FBXL13_ENST00000456695.1_Intron						__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__								__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__		ACAGTTGTCCGTCAGAGTTG	0.32	__UNKNOWN__	__UNKNOWN__								__UNKNOWN__	__UNKNOWN__	__UNKNOWN__																																																											false	false		false	false			false	false	false		false	false	false	false	false	false	false	false	false	false	false	false	false	false	false	false	false	false	false	false	false	false		false		false		false	false	false				false					false																																														
 TMEM168		__UNKNOWN__	hg19	7	112424910	112424910	+	DE_NOVO_START_OUT_FRAME	SNP	G	G	A			__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	NA	NA	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	g.chr7:112424910G>A	ENST00000312814.6	-	2					TMEM168_ENST00000454074.1_DE_NOVO_START_OUT_FRAME						__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__								__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__		TTTCCCTCACGTTACAAAAAT	0.3167082294264339	__UNKNOWN__	__UNKNOWN__								__UNKNOWN__	__UNKNOWN__	__UNKNOWN__																																																											false	false		false	false			false	false	false		false	false	false	false	false	false	false	false	false	false	false	false	false	false	false	false	false	false	false	false	false	false		false		false		false	false	false				false					false																																														
@@ -1686,7 +1686,7 @@ SNX16		__UNKNOWN__	hg19	8	82713734	82713734	+	Nonstop_Mutation	SNP	A	A	G			__UNK
 LRRCC1		__UNKNOWN__	hg19	8	86057746	86057746	+	Nonstop_Mutation	SNP	A	A	G			__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	NA	NA	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	g.chr8:86057746A>G	ENST00000360375.3	+	19	3248	c.3099A>G	c.(3097-3099)tgA>tgG	p.*1033W	LRRCC1_ENST00000414626.2_Nonstop_Mutation_p.*1013W						__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__								__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__		AAGATATGTGATGGTTCTGAG	0.2518703241895262	__UNKNOWN__	__UNKNOWN__								__UNKNOWN__	__UNKNOWN__	__UNKNOWN__																																																											false	false		false	false			false	false	false		false	false	false	false	false	false	false	false	false	false	false	false	false	false	false	false	false	false	false	false	false	false		false		false		false	false	false				false					false																																														
 ATP6V1C1		__UNKNOWN__	hg19	8	104061183	104061184	+	Splice_Site	INS	-	-	TT			__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	NA	NA	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	g.chr8:104061183_104061184insTT	ENST00000395862.3	+	4	445	c.286_287insTT	c.(286-288)gtgfs	p.D97fs	ATP6V1C1_ENST00000518738.1_Splice_Site_p.D97fs|ATP6V1C1_ENST00000518857.1_Splice_Site_p.D22fs|ATP6V1C1_ENST00000521514.1_Splice_Site_p.D22fs						__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__								__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__		GCTAATGGAGGTAAGCTAAT	0.3175	__UNKNOWN__	__UNKNOWN__								__UNKNOWN__	__UNKNOWN__	__UNKNOWN__						FRAME_SHIFT_INS																																																					false	false		false	false			false	false	false		false	false	false	false	false	false	false	false	false	false	false	false	false	false	false	false	false	false	false	false	false	false		false		false		false	false	false				false					false																																														
 DCAF13		__UNKNOWN__	hg19	8	104433259	104433260	+	Frame_Shift_Ins	INS	-	-	T			__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	NA	NA	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	g.chr8:104433259_104433260insT	ENST00000297579.5	+	3	1060	c.783_784insT	c.(784-786)ggcfs	p.G262fs	DCAF13_ENST00000519682.1_Frame_Shift_Ins_p.G106fs|DCAF13_ENST00000521971.1_Intron|DCAF13_ENST00000521999.1_Intron						__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__								__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__		AGCACATGAAGGCTTTGTAC	0.33	__UNKNOWN__	__UNKNOWN__								__UNKNOWN__	__UNKNOWN__	__UNKNOWN__																																																											false	false		false	false			false	false	false		false	false	false	false	false	false	false	false	false	false	false	false	false	false	false	false	false	false	false	false	false	false		false		false		false	false	false				false					false																																														
-ATAD2		__UNKNOWN__	hg19	8	124359584	124359584	+	DE_NOVO_START_OUT_FRAME	SNP	G	G	A			__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	NA	NA	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	g.chr8:124359584G>A	ENST00000521903.1	-	17					ATAD2_ENST00000287394.5_Missense_Mutation_p.R654C						__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__								__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__		TGTGGGTAGCGTCGTCGTAAA	0.40648379052369077	__UNKNOWN__	__UNKNOWN__								__UNKNOWN__	__UNKNOWN__	__UNKNOWN__																																																											false	false		false	false			false	false	false		false	false	false	false	false	false	false	false	false	false	false	false	false	false	false	false	false	false	false	false	false	false		false		false		false	false	false				false					false																																														
+ATAD2		__UNKNOWN__	hg19	8	124359584	124359584	+	DE_NOVO_START_OUT_FRAME	SNP	G	G	A			__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	NA	NA	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	g.chr8:124359584G>A	ENST00000521903.1	-	17					ATAD2_ENST00000287394.5_Missense_Mutation_p.R654C|MIR548AA1_ENST00000384971.2_5'Flank						__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__								__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__		TGTGGGTAGCGTCGTCGTAAA	0.40648379052369077	__UNKNOWN__	__UNKNOWN__								__UNKNOWN__	__UNKNOWN__	__UNKNOWN__																																																											false	false		false	false			false	false	false		false	false	false	false	false	false	false	false	false	false	false	false	false	false	false	false	false	false	false	false	false	false		false		false		false	false	false				false					false																																														
 C8orf17		__UNKNOWN__	hg19	8	140943503	140943503	+	DE_NOVO_START_OUT_FRAME	SNP	C	C	T			__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	NA	NA	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	g.chr8:140943503C>T	ENST00000507535.3	+	1					TRAPPC9_ENST00000389328.4_Intron|TRAPPC9_ENST00000438773.2_Intron|TRAPPC9_ENST00000389327.3_Intron						__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__								__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__		CGAGCATACACGTAATCCTCA	0.4937655860349127	__UNKNOWN__	__UNKNOWN__								__UNKNOWN__	__UNKNOWN__	__UNKNOWN__																																																											false	false		false	false			false	false	false		false	false	false	false	false	false	false	false	false	false	false	false	false	false	false	false	false	false	false	false	false	false		false		false		false	false	false				false					false																																														
 PSCA		__UNKNOWN__	hg19	8	143761931	143761931	+	DE_NOVO_START_IN_FRAME	SNP	C	C	T			__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	NA	NA	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	g.chr8:143761931C>T	ENST00000301258.4	+	1					PSCA_ENST00000513264.1_DE_NOVO_START_IN_FRAME|PSCA_ENST00000505305.1_Intron						__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__								__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__		CCAGTGACCACGAAGGCTGTG	0.6483790523690773	__UNKNOWN__	__UNKNOWN__								__UNKNOWN__	__UNKNOWN__	__UNKNOWN__																																																											false	false		false	false			false	false	false		false	false	false	false	false	false	false	false	false	false	false	false	false	false	false	false	false	false	false	false	false	false		false		false		false	false	false				false					false																																														
 TOP1MT		__UNKNOWN__	hg19	8	144413416	144413416	+	DE_NOVO_START_OUT_FRAME	SNP	G	G	A			__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	NA	NA	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	g.chr8:144413416G>A	ENST00000523676.1	-	3					TOP1MT_ENST00000521193.1_DE_NOVO_START_OUT_FRAME|TOP1MT_ENST00000329245.4_Silent_p.D72D|TOP1MT_ENST00000519148.1_DE_NOVO_START_OUT_FRAME						__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__								__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__		AACGCACTCCGTCGGGAAGGG	0.6334164588528678	__UNKNOWN__	__UNKNOWN__								__UNKNOWN__	__UNKNOWN__	__UNKNOWN__																																																											false	false		false	false			false	false	false		false	false	false	false	false	false	false	false	false	false	false	false	false	false	false	false	false	false	false	false	false	false		false		false		false	false	false				false					false																																														
@@ -1697,15 +1697,15 @@ ODF2		__UNKNOWN__	hg19	9	131221884	131221884	+	DE_NOVO_START_OUT_FRAME	SNP	C	C	T
 ASS1		__UNKNOWN__	hg19	9	133327612	133327612	+	DE_NOVO_START_OUT_FRAME	SNP	C	C	T			__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	NA	NA	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	g.chr9:133327612C>T	ENST00000372394.1	+	3					ASS1_ENST00000352480.5_DE_NOVO_START_OUT_FRAME|ASS1_ENST00000372393.3_DE_NOVO_START_OUT_FRAME						__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__								__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__		TCCCGCCAGACGCTATGTCCA	0.6234413965087282	__UNKNOWN__	__UNKNOWN__								__UNKNOWN__	__UNKNOWN__	__UNKNOWN__																																																											false	false		false	false			false	false	false		false	false	false	false	false	false	false	false	false	false	false	false	false	false	false	false	false	false	false	false	false	false		false		false		false	false	false				false					false																																														
 SEC16A		__UNKNOWN__	hg19	9	139371562	139371562	+	DE_NOVO_START_IN_FRAME	SNP	G	G	A			__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	NA	NA	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	g.chr9:139371562G>A	ENST00000371706.3	-	1					SEC16A_ENST00000313050.7_Missense_Mutation_p.T169M|SEC16A_ENST00000290037.6_5'Flank|SEC16A_ENST00000431893.2_5'Flank						__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__								__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__		CCCATGAGACGTTTCAGGATC	0.6084788029925187	__UNKNOWN__	__UNKNOWN__								__UNKNOWN__	__UNKNOWN__	__UNKNOWN__																																																											false	false		false	false			false	false	false		false	false	false	false	false	false	false	false	false	false	false	false	false	false	false	false	false	false	false	false	false	false		false		false		false	false	false				false					false																																														
 IDS		__UNKNOWN__	hg19	X	148582542	148582542	+	DE_NOVO_START_OUT_FRAME	SNP	A	A	C			__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	NA	NA	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	g.chrX:148582542A>C	ENST00000422081.2	-	4					IDS_ENST00000340855.6_Missense_Mutation_p.S149A|IDS_ENST00000370441.4_Missense_Mutation_p.S149A|IDS_ENST00000541269.1_DE_NOVO_START_OUT_FRAME|IDS_ENST00000370443.4_Missense_Mutation_p.S149A|IDS_ENST00000490775.1_Intron						__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__								__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__		CTATACGGAGAATCATCGGTA	0.3940149625935162	__UNKNOWN__	__UNKNOWN__								__UNKNOWN__	__UNKNOWN__	__UNKNOWN__																																																											false	false		false	false			false	false	false		false	false	false	false	false	false	false	false	false	false	false	false	false	false	false	false	false	false	false	false	false	false		false		false		false	false	false				false					false																																														
-MT-ND1		__UNKNOWN__	hg19	MT	72	72	+	5'Flank	SNP	T	T	C			__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	NA	NA	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	g.chrM:72T>C	ENST00000361390.2	+						MT-RNR2_ENST00000387347.2_5'Flank						__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__								__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__		GTCTGGGGGGTATGCACGCGA	0.4375	__UNKNOWN__	__UNKNOWN__								__UNKNOWN__	__UNKNOWN__	__UNKNOWN__																																																											false	false		false	false			false	false	false		false	false	false	false	false	false	false	false	false	false	false	false	false	false	false	false	false	false	false	false	false	false		false		false		false	false	false				false					false																																														
-MT-ND1		__UNKNOWN__	hg19	MT	125	125	+	5'Flank	SNP	T	T	C			__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	NA	NA	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	g.chrM:125T>C	ENST00000361390.2	+						MT-RNR2_ENST00000387347.2_5'Flank						__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__								__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__		TATGTCGCAGTATCTGTCTTT	0.4523076923076923	__UNKNOWN__	__UNKNOWN__								__UNKNOWN__	__UNKNOWN__	__UNKNOWN__																																																											false	false		false	false			false	false	false		false	false	false	false	false	false	false	false	false	false	false	false	false	false	false	false	false	false	false	false	false	false		false		false		false	false	false				false					false																																														
-MT-ND1		__UNKNOWN__	hg19	MT	212	212	+	5'Flank	SNP	T	T	C			__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	NA	NA	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	g.chrM:212T>C	ENST00000361390.2	+						MT-RNR2_ENST00000387347.2_5'Flank						__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__								__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__		AGTGTGTTAATTAATTAATGC	0.4389027431421446	__UNKNOWN__	__UNKNOWN__								__UNKNOWN__	__UNKNOWN__	__UNKNOWN__																																																											false	false		false	false			false	false	false		false	false	false	false	false	false	false	false	false	false	false	false	false	false	false	false	false	false	false	false	false	false		false		false		false	false	false				false					false																																														
-MT-ND1		__UNKNOWN__	hg19	MT	217	217	+	5'Flank	SNP	T	T	C			__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	NA	NA	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	g.chrM:217T>C	ENST00000361390.2	+						MT-RNR2_ENST00000387347.2_5'Flank						__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__								__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__		GTTAATTAATTAATGCTTGTA	0.44139650872817954	__UNKNOWN__	__UNKNOWN__								__UNKNOWN__	__UNKNOWN__	__UNKNOWN__																																																											false	false		false	false			false	false	false		false	false	false	false	false	false	false	false	false	false	false	false	false	false	false	false	false	false	false	false	false	false		false		false		false	false	false				false					false																																														
-MT-ND1		__UNKNOWN__	hg19	MT	228	228	+	5'Flank	SNP	G	G	A			__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	NA	NA	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	g.chrM:228G>A	ENST00000361390.2	+						MT-RNR2_ENST00000387347.2_5'Flank						__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__								__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__		AATGCTTGTAGGACATAATAA	0.43640897755610975	__UNKNOWN__	__UNKNOWN__								__UNKNOWN__	__UNKNOWN__	__UNKNOWN__																																																											false	false		false	false			false	false	false		false	false	false	false	false	false	false	false	false	false	false	false	false	false	false	false	false	false	false	false	false	false		false		false		false	false	false				false					false																																														
-MT-ND1		__UNKNOWN__	hg19	MT	236	236	+	5'Flank	SNP	T	T	C			__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	NA	NA	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	g.chrM:236T>C	ENST00000361390.2	+						MT-RNR2_ENST00000387347.2_5'Flank						__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__								__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__		TAGGACATAATAATAACAATT	0.4389027431421446	__UNKNOWN__	__UNKNOWN__								__UNKNOWN__	__UNKNOWN__	__UNKNOWN__																																																											false	false		false	false			false	false	false		false	false	false	false	false	false	false	false	false	false	false	false	false	false	false	false	false	false	false	false	false	false		false		false		false	false	false				false					false																																														
-MT-ND1		__UNKNOWN__	hg19	MT	246	246	+	5'Flank	SNP	T	T	C			__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	NA	NA	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	g.chrM:246T>C	ENST00000361390.2	+						MT-RNR2_ENST00000387347.2_5'Flank						__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__								__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__		TAATAACAATTGAATGTCTGC	0.4339152119700748	__UNKNOWN__	__UNKNOWN__								__UNKNOWN__	__UNKNOWN__	__UNKNOWN__																																																											false	false		false	false			false	false	false		false	false	false	false	false	false	false	false	false	false	false	false	false	false	false	false	false	false	false	false	false	false		false		false		false	false	false				false					false																																														
-MT-ND1		__UNKNOWN__	hg19	MT	295	295	+	5'Flank	SNP	C	C	T			__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	NA	NA	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	g.chrM:295C>T	ENST00000361390.2	+						MT-RNR2_ENST00000387347.2_5'Flank						__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__								__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__		CAAAAAATTTCCACCAAACCC	0.42144638403990026	__UNKNOWN__	__UNKNOWN__								__UNKNOWN__	__UNKNOWN__	__UNKNOWN__																																																											false	false		false	false			false	false	false		false	false	false	false	false	false	false	false	false	false	false	false	false	false	false	false	false	false	false	false	false	false		false		false		false	false	false				false					false																																														
-MT-ND1		__UNKNOWN__	hg19	MT	489	489	+	5'Flank	SNP	T	T	C			__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	NA	NA	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	g.chrM:489T>C	ENST00000361390.2	+						MT-RNR2_ENST00000387347.2_5'Flank						__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__								__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__		ATCTCATCAATACAACCCCCG	0.46633416458852867	__UNKNOWN__	__UNKNOWN__								__UNKNOWN__	__UNKNOWN__	__UNKNOWN__																																																											false	false		false	false			false	false	false		false	false	false	false	false	false	false	false	false	false	false	false	false	false	false	false	false	false	false	false	false	false		false		false		false	false	false				false					false																																														
-MT-ND1		__UNKNOWN__	hg19	MT	499	499	+	5'Flank	SNP	G	G	A			__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	NA	NA	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	g.chrM:499G>A	ENST00000361390.2	+						MT-RNR2_ENST00000387347.2_5'Flank						__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__								__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__		TACAACCCCCGCCCATCCTAC	0.4688279301745636	__UNKNOWN__	__UNKNOWN__								__UNKNOWN__	__UNKNOWN__	__UNKNOWN__																																																											false	false		false	false			false	false	false		false	false	false	false	false	false	false	false	false	false	false	false	false	false	false	false	false	false	false	false	false	false		false		false		false	false	false				false					false																																														
-MT-ND1		__UNKNOWN__	hg19	MT	1719	1719	+	5'Flank	SNP	G	G	A			__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	NA	NA	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	g.chrM:1719G>A	ENST00000361390.2	+						MT-RNR2_ENST00000387347.2_RNA						__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__								__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__		GACAACCTTAGCCAAACCATT	0.4114713216957606	__UNKNOWN__	__UNKNOWN__								__UNKNOWN__	__UNKNOWN__	__UNKNOWN__																																																											false	false		false	false			false	false	false		false	false	false	false	false	false	false	false	false	false	false	false	false	false	false	false	false	false	false	false	false	false		false		false		false	false	false				false					false																																														
-MT-ND1		__UNKNOWN__	hg19	MT	3316	3316	+	Missense_Mutation	SNP	G	G	A			__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	NA	NA	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	g.chrM:3316G>A	ENST00000361390.2	+	1	10	c.10G>A	c.(10-12)Gcc>Acc	p.A4T							__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__								__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__		CATACCCATGGCCAACCTCCT	0.4613466334164589	__UNKNOWN__	__UNKNOWN__								__UNKNOWN__	__UNKNOWN__	__UNKNOWN__																																																											false	false		false	false			false	false	false		false	false	false	false	false	false	false	false	false	false	false	false	false	false	false	false	false	false	false	false	false	false		false		false		false	false	false				false					false																																														
+MT-ND1		__UNKNOWN__	hg19	MT	72	72	+	5'Flank	SNP	T	T	C			__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	NA	NA	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	g.chrM:72T>C	ENST00000361390.2	+						MT-ND2_ENST00000361453.3_5'Flank|MT-TL1_ENST00000386347.1_5'Flank|MT-TF_ENST00000387314.1_5'Flank|MT-TV_ENST00000387342.1_5'Flank|MT-RNR2_ENST00000387347.2_5'Flank|MT-TI_ENST00000387365.1_5'Flank|MT-TM_ENST00000387377.1_5'Flank|MT-RNR1_ENST00000389680.2_5'Flank						__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__								__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__		GTCTGGGGGGTATGCACGCGA	0.4375	__UNKNOWN__	__UNKNOWN__								__UNKNOWN__	__UNKNOWN__	__UNKNOWN__																																																											false	false		false	false			false	false	false		false	false	false	false	false	false	false	false	false	false	false	false	false	false	false	false	false	false	false	false	false	false		false		false		false	false	false				false					false																																														
+MT-ND1		__UNKNOWN__	hg19	MT	125	125	+	5'Flank	SNP	T	T	C			__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	NA	NA	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	g.chrM:125T>C	ENST00000361390.2	+						MT-ND2_ENST00000361453.3_5'Flank|MT-TL1_ENST00000386347.1_5'Flank|MT-TF_ENST00000387314.1_5'Flank|MT-TV_ENST00000387342.1_5'Flank|MT-RNR2_ENST00000387347.2_5'Flank|MT-TI_ENST00000387365.1_5'Flank|MT-TM_ENST00000387377.1_5'Flank|MT-RNR1_ENST00000389680.2_5'Flank						__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__								__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__		TATGTCGCAGTATCTGTCTTT	0.4523076923076923	__UNKNOWN__	__UNKNOWN__								__UNKNOWN__	__UNKNOWN__	__UNKNOWN__																																																											false	false		false	false			false	false	false		false	false	false	false	false	false	false	false	false	false	false	false	false	false	false	false	false	false	false	false	false	false		false		false		false	false	false				false					false																																														
+MT-ND1		__UNKNOWN__	hg19	MT	212	212	+	5'Flank	SNP	T	T	C			__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	NA	NA	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	g.chrM:212T>C	ENST00000361390.2	+						MT-ND2_ENST00000361453.3_5'Flank|MT-TL1_ENST00000386347.1_5'Flank|MT-TF_ENST00000387314.1_5'Flank|MT-TV_ENST00000387342.1_5'Flank|MT-RNR2_ENST00000387347.2_5'Flank|MT-TI_ENST00000387365.1_5'Flank|MT-TM_ENST00000387377.1_5'Flank|MT-RNR1_ENST00000389680.2_5'Flank						__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__								__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__		AGTGTGTTAATTAATTAATGC	0.4389027431421446	__UNKNOWN__	__UNKNOWN__								__UNKNOWN__	__UNKNOWN__	__UNKNOWN__																																																											false	false		false	false			false	false	false		false	false	false	false	false	false	false	false	false	false	false	false	false	false	false	false	false	false	false	false	false	false		false		false		false	false	false				false					false																																														
+MT-ND1		__UNKNOWN__	hg19	MT	217	217	+	5'Flank	SNP	T	T	C			__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	NA	NA	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	g.chrM:217T>C	ENST00000361390.2	+						MT-ND2_ENST00000361453.3_5'Flank|MT-TL1_ENST00000386347.1_5'Flank|MT-TF_ENST00000387314.1_5'Flank|MT-TV_ENST00000387342.1_5'Flank|MT-RNR2_ENST00000387347.2_5'Flank|MT-TI_ENST00000387365.1_5'Flank|MT-TM_ENST00000387377.1_5'Flank|MT-RNR1_ENST00000389680.2_5'Flank						__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__								__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__		GTTAATTAATTAATGCTTGTA	0.44139650872817954	__UNKNOWN__	__UNKNOWN__								__UNKNOWN__	__UNKNOWN__	__UNKNOWN__																																																											false	false		false	false			false	false	false		false	false	false	false	false	false	false	false	false	false	false	false	false	false	false	false	false	false	false	false	false	false		false		false		false	false	false				false					false																																														
+MT-ND1		__UNKNOWN__	hg19	MT	228	228	+	5'Flank	SNP	G	G	A			__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	NA	NA	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	g.chrM:228G>A	ENST00000361390.2	+						MT-ND2_ENST00000361453.3_5'Flank|MT-TL1_ENST00000386347.1_5'Flank|MT-TF_ENST00000387314.1_5'Flank|MT-TV_ENST00000387342.1_5'Flank|MT-RNR2_ENST00000387347.2_5'Flank|MT-TI_ENST00000387365.1_5'Flank|MT-TM_ENST00000387377.1_5'Flank|MT-RNR1_ENST00000389680.2_5'Flank						__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__								__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__		AATGCTTGTAGGACATAATAA	0.43640897755610975	__UNKNOWN__	__UNKNOWN__								__UNKNOWN__	__UNKNOWN__	__UNKNOWN__																																																											false	false		false	false			false	false	false		false	false	false	false	false	false	false	false	false	false	false	false	false	false	false	false	false	false	false	false	false	false		false		false		false	false	false				false					false																																														
+MT-ND1		__UNKNOWN__	hg19	MT	236	236	+	5'Flank	SNP	T	T	C			__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	NA	NA	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	g.chrM:236T>C	ENST00000361390.2	+						MT-ND2_ENST00000361453.3_5'Flank|MT-TL1_ENST00000386347.1_5'Flank|MT-TF_ENST00000387314.1_5'Flank|MT-TV_ENST00000387342.1_5'Flank|MT-RNR2_ENST00000387347.2_5'Flank|MT-TI_ENST00000387365.1_5'Flank|MT-TM_ENST00000387377.1_5'Flank|MT-RNR1_ENST00000389680.2_5'Flank						__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__								__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__		TAGGACATAATAATAACAATT	0.4389027431421446	__UNKNOWN__	__UNKNOWN__								__UNKNOWN__	__UNKNOWN__	__UNKNOWN__																																																											false	false		false	false			false	false	false		false	false	false	false	false	false	false	false	false	false	false	false	false	false	false	false	false	false	false	false	false	false		false		false		false	false	false				false					false																																														
+MT-ND1		__UNKNOWN__	hg19	MT	246	246	+	5'Flank	SNP	T	T	C			__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	NA	NA	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	g.chrM:246T>C	ENST00000361390.2	+						MT-ND2_ENST00000361453.3_5'Flank|MT-TL1_ENST00000386347.1_5'Flank|MT-TF_ENST00000387314.1_5'Flank|MT-TV_ENST00000387342.1_5'Flank|MT-RNR2_ENST00000387347.2_5'Flank|MT-TI_ENST00000387365.1_5'Flank|MT-TM_ENST00000387377.1_5'Flank|MT-RNR1_ENST00000389680.2_5'Flank						__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__								__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__		TAATAACAATTGAATGTCTGC	0.4339152119700748	__UNKNOWN__	__UNKNOWN__								__UNKNOWN__	__UNKNOWN__	__UNKNOWN__																																																											false	false		false	false			false	false	false		false	false	false	false	false	false	false	false	false	false	false	false	false	false	false	false	false	false	false	false	false	false		false		false		false	false	false				false					false																																														
+MT-ND1		__UNKNOWN__	hg19	MT	295	295	+	5'Flank	SNP	C	C	T			__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	NA	NA	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	g.chrM:295C>T	ENST00000361390.2	+						MT-ND2_ENST00000361453.3_5'Flank|MT-TL1_ENST00000386347.1_5'Flank|MT-TF_ENST00000387314.1_5'Flank|MT-TV_ENST00000387342.1_5'Flank|MT-RNR2_ENST00000387347.2_5'Flank|MT-TI_ENST00000387365.1_5'Flank|MT-TM_ENST00000387377.1_5'Flank|MT-RNR1_ENST00000389680.2_5'Flank						__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__								__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__		CAAAAAATTTCCACCAAACCC	0.42144638403990026	__UNKNOWN__	__UNKNOWN__								__UNKNOWN__	__UNKNOWN__	__UNKNOWN__																																																											false	false		false	false			false	false	false		false	false	false	false	false	false	false	false	false	false	false	false	false	false	false	false	false	false	false	false	false	false		false		false		false	false	false				false					false																																														
+MT-ND1		__UNKNOWN__	hg19	MT	489	489	+	5'Flank	SNP	T	T	C			__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	NA	NA	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	g.chrM:489T>C	ENST00000361390.2	+						MT-ND2_ENST00000361453.3_5'Flank|MT-TL1_ENST00000386347.1_5'Flank|MT-TF_ENST00000387314.1_5'Flank|MT-TV_ENST00000387342.1_5'Flank|MT-RNR2_ENST00000387347.2_5'Flank|MT-TI_ENST00000387365.1_5'Flank|MT-TM_ENST00000387377.1_5'Flank|MT-RNR1_ENST00000389680.2_5'Flank						__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__								__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__		ATCTCATCAATACAACCCCCG	0.46633416458852867	__UNKNOWN__	__UNKNOWN__								__UNKNOWN__	__UNKNOWN__	__UNKNOWN__																																																											false	false		false	false			false	false	false		false	false	false	false	false	false	false	false	false	false	false	false	false	false	false	false	false	false	false	false	false	false		false		false		false	false	false				false					false																																														
+MT-ND1		__UNKNOWN__	hg19	MT	499	499	+	5'Flank	SNP	G	G	A			__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	NA	NA	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	g.chrM:499G>A	ENST00000361390.2	+						MT-ND2_ENST00000361453.3_5'Flank|MT-TL1_ENST00000386347.1_5'Flank|MT-TF_ENST00000387314.1_5'Flank|MT-TV_ENST00000387342.1_5'Flank|MT-RNR2_ENST00000387347.2_5'Flank|MT-TI_ENST00000387365.1_5'Flank|MT-TM_ENST00000387377.1_5'Flank|MT-RNR1_ENST00000389680.2_5'Flank						__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__								__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__		TACAACCCCCGCCCATCCTAC	0.4688279301745636	__UNKNOWN__	__UNKNOWN__								__UNKNOWN__	__UNKNOWN__	__UNKNOWN__																																																											false	false		false	false			false	false	false		false	false	false	false	false	false	false	false	false	false	false	false	false	false	false	false	false	false	false	false	false	false		false		false		false	false	false				false					false																																														
+MT-ND1		__UNKNOWN__	hg19	MT	1719	1719	+	5'Flank	SNP	G	G	A			__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	NA	NA	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	g.chrM:1719G>A	ENST00000361390.2	+						MT-ND2_ENST00000361453.3_5'Flank|MT-CO1_ENST00000361624.2_5'Flank|MT-RNR2_ENST00000387347.2_RNA|MT-TL1_ENST00000386347.1_5'Flank|MT-TI_ENST00000387365.1_5'Flank|MT-TM_ENST00000387377.1_5'Flank|MT-TW_ENST00000387382.1_5'Flank						__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__								__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__		GACAACCTTAGCCAAACCATT	0.4114713216957606	__UNKNOWN__	__UNKNOWN__								__UNKNOWN__	__UNKNOWN__	__UNKNOWN__																																																											false	false		false	false			false	false	false		false	false	false	false	false	false	false	false	false	false	false	false	false	false	false	false	false	false	false	false	false	false		false		false		false	false	false				false					false																																														
+MT-ND1		__UNKNOWN__	hg19	MT	3316	3316	+	Missense_Mutation	SNP	G	G	A			__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	NA	NA	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	g.chrM:3316G>A	ENST00000361390.2	+	1	10	c.10G>A	c.(10-12)Gcc>Acc	p.A4T	MT-ND2_ENST00000361453.3_5'Flank|MT-CO1_ENST00000361624.2_5'Flank|MT-CO2_ENST00000361739.1_5'Flank|MT-TI_ENST00000387365.1_5'Flank|MT-TM_ENST00000387377.1_5'Flank|MT-TW_ENST00000387382.1_5'Flank|MT-TD_ENST00000387419.1_5'Flank|MT-TK_ENST00000387421.1_5'Flank						__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__								__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__		CATACCCATGGCCAACCTCCT	0.4613466334164589	__UNKNOWN__	__UNKNOWN__								__UNKNOWN__	__UNKNOWN__	__UNKNOWN__																																																											false	false		false	false			false	false	false		false	false	false	false	false	false	false	false	false	false	false	false	false	false	false	false	false	false	false	false	false	false		false		false		false	false	false				false					false																																														
diff --git a/src/test/resources/org/broadinstitute/hellbender/tools/funcotator/validationTestData/regressionTestHg19Large_expected.vcf b/src/test/resources/org/broadinstitute/hellbender/tools/funcotator/validationTestData/regressionTestHg19Large_expected.vcf
index dd115bb5d2a..47c84723a88 100644
--- a/src/test/resources/org/broadinstitute/hellbender/tools/funcotator/validationTestData/regressionTestHg19Large_expected.vcf
+++ b/src/test/resources/org/broadinstitute/hellbender/tools/funcotator/validationTestData/regressionTestHg19Large_expected.vcf
@@ -25,7 +25,7 @@
 ##FORMAT=<ID=Y,Number=1,Type=Integer,Description="Raw Y intensity">
 ##Funcotator Version=0.0.4 | Gencode 19 CANONICAL | Achilles 110303 | CGC full_2012_03-15 | ClinVar 12.03.20 | Cosmic v84 | CosmicFusion v84 | CosmicTissue v83 | DNARepairGenes 20180524T145835  | Familial_Cancer_Genes 20110905 | Gencode_XHGNC 75_37 | Gencode_XRefSeq 75_37 | HGNC Nov302017 | Oreganno 20160119 | Simple_Uniprot 2014_12 | dbSNP 9606_b150
 ##Funcotator Version=0.0.5 | Gencode 19 CANONICAL | Achilles 110303 | CGC full_2012_03-15 | ClinVar 12.03.20 | Cosmic 83 | CosmicFusion v83 | CosmicTissue v83 | DNARepairGenes 20171217T214737  | Familial_Cancer_Genes 20110905 | Gencode_XHGNC 75_37 | Gencode_XRefSeq 75_37 | HGNC Nov302017 | Simple_Uniprot 2014_12 | dbSNP 9606_b150
-##GATKCommandLine=<ID=Funcotator,CommandLine="Funcotator  --output /var/folders/kn/f9s03hnn0xgby73plpc89lz0_ns740/T/regressionTestHg19Large.vcf.funcotator3182978155679174149.vcf --ref-version hg19 --data-sources-path /Users/droazen/src/hellbender/src/test/resources/large/funcotator/funcotator_dataSources/ --output-file-format VCF --variant /Users/droazen/src/hellbender/src/test/resources/org/broadinstitute/hellbender/tools/funcotator/validationTestData/regressionTestHg19Large.vcf --reference /Users/droazen/src/hellbender/src/test/resources/large/Homo_sapiens_assembly19.fasta.gz --verbosity INFO  --remove-filtered-variants false --transcript-selection-mode CANONICAL --five-prime-flank-size 5000 --three-prime-flank-size 0 --lookahead-cache-bp 100000 --force-b37-to-hg19-reference-contig-conversion false --interval-set-rule UNION --interval-padding 0 --interval-exclusion-padding 0 --interval-merging-rule ALL --read-validation-stringency SILENT --seconds-between-progress-updates 10.0 --disable-sequence-dictionary-validation false --create-output-bam-index true --create-output-bam-md5 false --create-output-variant-index true --create-output-variant-md5 false --lenient false --add-output-sam-program-record true --add-output-vcf-command-line true --cloud-prefetch-buffer 40 --cloud-index-prefetch-buffer -1 --disable-bam-index-caching false --sites-only-vcf-output false --help false --version false --showHidden false --QUIET false --use-jdk-deflater false --use-jdk-inflater false --gcs-max-retries 20 --gcs-project-for-requester-pays  --disable-tool-default-read-filters false",Version=Unavailable-0.0.5,Date="November 15, 2018 1:44:52 PM EST">
+##GATKCommandLine=<ID=Funcotator,CommandLine="Funcotator  --output /var/folders/4p/2b7bzvcx0x7bxvbztmwk__6rkr9cxg/T/regressionTestHg19Large.vcf.funcotator2704760828114956980.vcf --ref-version hg19 --data-sources-path /Users/jonn/Development/gatk/src/test/resources/large/funcotator/funcotator_dataSources/ --output-file-format VCF --variant /Users/jonn/Development/gatk/src/test/resources/org/broadinstitute/hellbender/tools/funcotator/validationTestData/regressionTestHg19Large.vcf --reference /Users/jonn/Development/gatk/src/test/resources/large/Homo_sapiens_assembly19.fasta.gz --verbosity INFO  --remove-filtered-variants false --transcript-selection-mode CANONICAL --five-prime-flank-size 5000 --three-prime-flank-size 0 --lookahead-cache-bp 100000 --force-b37-to-hg19-reference-contig-conversion false --interval-set-rule UNION --interval-padding 0 --interval-exclusion-padding 0 --interval-merging-rule ALL --read-validation-stringency SILENT --seconds-between-progress-updates 10.0 --disable-sequence-dictionary-validation false --create-output-bam-index true --create-output-bam-md5 false --create-output-variant-index true --create-output-variant-md5 false --lenient false --add-output-sam-program-record true --add-output-vcf-command-line true --cloud-prefetch-buffer 40 --cloud-index-prefetch-buffer -1 --disable-bam-index-caching false --sites-only-vcf-output false --help false --version false --showHidden false --QUIET false --use-jdk-deflater false --use-jdk-inflater false --gcs-max-retries 20 --gcs-project-for-requester-pays  --disable-tool-default-read-filters false",Version=Unavailable-0.0.5,Date="November 16, 2018 12:40:47 PM EST">
 ##GATKCommandLine=<ID=Funcotator,CommandLine="Funcotator  --output FUNCOTATOR_OUT.vcf --ref-version hg19 --data-sources-path /Users/jonn/Development/funcotator_dataSources_latest --output-file-format VCF --variant /Users/jonn/Development/NON_PUBLIC/0816201804HC0_R01C01.vcf --reference /Users/jonn/Development/references/Homo_sapiens_assembly19.fasta --verbosity DEBUG  --remove-filtered-variants false --transcript-selection-mode CANONICAL --lookahead-cache-bp 100000 --force-b37-to-hg19-reference-contig-conversion false --interval-set-rule UNION --interval-padding 0 --interval-exclusion-padding 0 --interval-merging-rule ALL --read-validation-stringency SILENT --seconds-between-progress-updates 10.0 --disable-sequence-dictionary-validation false --create-output-bam-index true --create-output-bam-md5 false --create-output-variant-index true --create-output-variant-md5 false --lenient false --add-output-sam-program-record true --add-output-vcf-command-line true --cloud-prefetch-buffer 40 --cloud-index-prefetch-buffer -1 --disable-bam-index-caching false --sites-only-vcf-output false --help false --version false --showHidden false --QUIET false --use-jdk-deflater false --use-jdk-inflater false --gcs-max-retries 20 --gcs-project-for-requester-pays  --disable-tool-default-read-filters false",Version=4.0.10.1-17-g2de000f-SNAPSHOT-0.0.4,Date="October 19, 2018 2:12:35 PM EDT">
 ##Hyb(High)=Hyb(High)|Hybridization|3310|11184
 ##Hyb(Low)=Hyb(Low)|Hybridization|3436|1823
@@ -200,12 +200,12 @@
 ##zcallThresholds=thresholds.7.txt
 ##zcallVersion=1.0.0.0
 #CHROM	POS	ID	REF	ALT	QUAL	FILTER	INFO
-chr1	752566	rs3094315	G	A	.	PASS	FUNCOTATION=[RP11-206L10.10|hg19|chr1|752566|752566|RNA||SNP|G|G|A|g.chr1:752566G>A|ENST00000435300.1|-|||c.e1-187C>T|||0.3690773067331671|CAAGAGAAACGTTTGACAGAG||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||true|false|0.2817_%2C_0.7183|false|false|1||false|true|false|FAM87B:400728|true|true|false|true|true|false|false|false|false|false|false|false|false|false|false|true|true|false|true|false|3094315|752566|true|false|0|true|0|false|0.351947_%2C_0.648053|false|false|false|SNV|true|0x05012802000515053f000101|1|false|103|rs3094315]
-chr1	752721	rs3131972	A	G	.	PASS	FUNCOTATION=[RP11-206L10.10|hg19|chr1|752721|752721|RNA||SNP|A|A|G|g.chr1:752721A>G|ENST00000435300.1|-|||c.e1-32T>C|||0.486284289276808|AGAAAGGAAAAGGGAAGAATG||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||true|false|0.3466_%2C_0.6534|false|false|1||false|true|true|FAM87B:400728|true|true|false|true|true|false|false|false|false|false|false|false|false|false|false|false|false|false|true|false|3131972|752721|true|false|0|true|0|false|0.393296_%2C_0.606704|false|false|false|SNV|true|0x05010002000517053f000100|1|false|103|rs3131972]
-chr1	762320	exm2268640	C	T	.	PASS	FUNCOTATION=[LINC00115|hg19|chr1|762320|762320|LINCRNA||SNP|C|C|T|g.chr1:762320C>T|ENST00000473798.1|-|||c.e1-582G>A|||0.6084788029925187|ACCCAACAGTCACCGCTAGTG||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||true|false|0.9305_%2C_0.06949|false|false|1||false|true|false|LINC01128:643837_%7C_LINC00115:79854|false|true|false|true|true|false|false|false|false|false|false|false|false|false|false|false|false|false|true|false|75333668|762320|false|false|0|true|0|false||false|false|false|SNV|true|0x050100020005150436000100|1|false|131|rs75333668]
+chr1	752566	rs3094315	G	A	.	PASS	FUNCOTATION=[RP11-206L10.10|hg19|chr1|752566|752566|RNA||SNP|G|G|A|g.chr1:752566G>A|ENST00000435300.1|-|||c.e1-187C>T|||0.3690773067331671|CAAGAGAAACGTTTGACAGAG|FAM87B_ENST00000326734.1_FIVE_PRIME_FLANK|||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||true|false|0.2817_%2C_0.7183|false|false|1||false|true|false|FAM87B:400728|true|true|false|true|true|false|false|false|false|false|false|false|false|false|false|true|true|false|true|false|3094315|752566|true|false|0|true|0|false|0.351947_%2C_0.648053|false|false|false|SNV|true|0x05012802000515053f000101|1|false|103|rs3094315]
+chr1	752721	rs3131972	A	G	.	PASS	FUNCOTATION=[RP11-206L10.10|hg19|chr1|752721|752721|RNA||SNP|A|A|G|g.chr1:752721A>G|ENST00000435300.1|-|||c.e1-32T>C|||0.486284289276808|AGAAAGGAAAAGGGAAGAATG|FAM87B_ENST00000326734.1_FIVE_PRIME_FLANK|||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||true|false|0.3466_%2C_0.6534|false|false|1||false|true|true|FAM87B:400728|true|true|false|true|true|false|false|false|false|false|false|false|false|false|false|false|false|false|true|false|3131972|752721|true|false|0|true|0|false|0.393296_%2C_0.606704|false|false|false|SNV|true|0x05010002000517053f000100|1|false|103|rs3131972]
+chr1	762320	exm2268640	C	T	.	PASS	FUNCOTATION=[LINC00115|hg19|chr1|762320|762320|LINCRNA||SNP|C|C|T|g.chr1:762320C>T|ENST00000473798.1|-|||c.e1-582G>A|||0.6084788029925187|ACCCAACAGTCACCGCTAGTG|RP11-206L10.11_ENST00000445118.2_FIVE_PRIME_FLANK|||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||true|false|0.9305_%2C_0.06949|false|false|1||false|true|false|LINC01128:643837_%7C_LINC00115:79854|false|true|false|true|true|false|false|false|false|false|false|false|false|false|false|false|false|false|true|false|75333668|762320|false|false|0|true|0|false||false|false|false|SNV|true|0x050100020005150436000100|1|false|131|rs75333668]
 chr1	798959	rs11240777	G	A	.	PASS	FUNCOTATION=[Unknown|hg19|chr1|798959|798959|IGR||SNP|G|G|A|g.chr1:798959G>A|no_transcript|||||||0.4089775561097257|TGGGCTTTAAGGTATGACTAG||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||false|false||false|false|||false|false|false||false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|||false|false||false||false||false|false|false||false|||false||]
 chr1	838555	rs4970383	C	A	.	PASS	FUNCOTATION=[RP11-54O7.16|hg19|chr1|838555|838555|FIVE_PRIME_FLANK||SNP|C|C|A|g.chr1:838555C>A|ENST00000607769.1|+||||||0.5511221945137157|GACCCCATTTCACCTTAATCG||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||false|false||false|false|||false|false|false||false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|||false|false||false||false||false|false|false||false|||false||]
-chr1	846808	rs4475691	C	T	.	PASS	FUNCOTATION=[RP11-54O7.16|hg19|chr1|846808|846808|LINCRNA||SNP|C|C|T|g.chr1:846808C>T|ENST00000607769.1|+|||c.e2-4322C>T|||0.6059850374064838|TGGTGAGCTGCGCCTTTGTGC||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||true|false|0.7452_%2C_0.2548|false|false|1||false|true|true|LOC284600:284600|true|true|false|true|true|false|false|false|false|false|false|false|false|false|false|false|false|false|true|false|4475691|846808|false|false|0|true|0|false|0.725634_%2C_0.274366|false|false|false|SNV|true|0x05010002000517053e000100|1|false|111|rs4475691]
+chr1	846808	rs4475691	C	T	.	PASS	FUNCOTATION=[RP11-54O7.16|hg19|chr1|846808|846808|LINCRNA||SNP|C|C|T|g.chr1:846808C>T|ENST00000607769.1|+|||c.e2-4322C>T|||0.6059850374064838|TGGTGAGCTGCGCCTTTGTGC|RP11-54O7.2_ENST00000398216.2_FIVE_PRIME_FLANK/RP11-54O7.1_ENST00000448179.1_FIVE_PRIME_FLANK|||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||true|false|0.7452_%2C_0.2548|false|false|1||false|true|true|LOC284600:284600|true|true|false|true|true|false|false|false|false|false|false|false|false|false|false|false|false|false|true|false|4475691|846808|false|false|0|true|0|false|0.725634_%2C_0.274366|false|false|false|SNV|true|0x05010002000517053e000100|1|false|111|rs4475691]
 chr1	861349	exm41	C	T	.	PASS	FUNCOTATION=[SAMD11|hg19|chr1|861349|861349|MISSENSE||SNP|C|C|T|g.chr1:861349C>T|ENST00000342066.3|+|2|111|c.28C>T|c.(28-30)Cct>Tct|p.P10S|0.6533665835411472|GCAGGTGCATCCTCCGATCTG|AL645608.1_ENST00000598827.1_MISSENSE_p.G84E|||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||true|false||false|false|||false|false|false|SAMD11:148398|false|true|false|false|false|false|false|false|false|false|false|true|false|false|false|false|false|false|false|true|200686669|861349|false|false|0|false|0|false||false|false|false|SNV|true|0x050000000a05040402000100|1|false|137|rs200686669]
 chr1	861808	rs13302982	A	G	.	PASS	FUNCOTATION=[SAMD11|hg19|chr1|861808|861808|INTRON||SNP|A|A|G|g.chr1:861808A>G|ENST00000342066.3|+|||c.e2+415A>G|||0.6134663341645885|GGACGACAGCATTTTGGGGAG|AL645608.1_ENST00000598827.1_INTRON|||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||true|false|0.3177_%2C_0.6823|false|false|1||false|true|false|SAMD11:148398|true|true|true|true|true|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|13302982|861808|false|false|0|true|0|false|0.289649_%2C_0.710351|false|false|false|SNV|true|0x05010008000515053f000100|1|false|121|rs13302982]
 chr1	865545	exm1916089	G	A	.	PASS	FUNCOTATION=[SAMD11|hg19|chr1|865545|865545|MISSENSE||SNP|G|G|A|g.chr1:865545G>A|ENST00000342066.3|+|3|166|c.83G>A|c.(82-84)cGg>cAg|p.R28Q|0.6683291770573566|AACCGGGGGCGGCTGGCAGAC|AL645608.1_ENST00000598827.1_INTRON|||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||true|false|0.9972_%2C_0.002796|false|false|1||false|false|false|SAMD11:148398|false|true|false|true|true|false|false|false|false|false|false|true|false|false|false|false|false|false|false|true|201186828|865545|false|false|0|false|0|false|0.997012_%2C_0.00298784|false|false|false|SNV|true|0x050000000a05040436000100|1|false|137|rs201186828]
@@ -369,13 +369,13 @@ chr1	1139287	exm1692	G	A	.	PASS	FUNCOTATION=[TNFRSF18|hg19|chr1|1139287|1139287|
 chr1	1139308	exm1693	G	A	.	PASS	FUNCOTATION=[TNFRSF18|hg19|chr1|1139308|1139308|SILENT||SNP|G|G|A|g.chr1:1139308G>A|ENST00000379268.2|-|5|762|c.642C>T|c.(640-642)gaC>gaT|p.D214D|0.7082294264339152|AGCTTCTGGCGTCTTCGGTCG|TNFRSF18_ENST00000379265.5_SILENT_p.D207D/TNFRSF18_ENST00000328596.6_MISSENSE_p.T144M/TNFRSF18_ENST00000486728.1_SILENT_p.D142D|||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||true|false|0.9992_%2C_0.0007987_%2C_.|false|false|0||false|false|false|TNFRSF18:8784|false|true|false|false|true|false|false|false|false|false|false|true|false|false|false|false|false|false|false|true|201894449|1139308|false|false|0|false|0|true|0.999863_%2C_0.000137372_%2C_.|false|false|false|SNV|true|0x050000000b05040426000100|1|false|137|rs201894449]
 chr1	1139320	exm1695	C	T	.	PASS	FUNCOTATION=[TNFRSF18|hg19|chr1|1139320|1139320|SILENT||SNP|C|C|T|g.chr1:1139320C>T|ENST00000379268.2|-|5|750|c.630G>A|c.(628-630)ccG>ccA|p.P210P|0.7107231920199502|CTTCGGTCGACGGCGGCACCT|TNFRSF18_ENST00000379265.5_SILENT_p.P203P/TNFRSF18_ENST00000328596.6_MISSENSE_p.R140H/TNFRSF18_ENST00000486728.1_SILENT_p.P138P|||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||true|false|0.9996_%2C_0.0003994|false|false|0||false|false|false|TNFRSF18:8784|false|true|false|false|true|false|false|false|false|false|false|true|false|false|false|false|false|false|false|true|200096730|1139320|false|false|0|false|0|true|0.999966_%2C_3.4343e-005|false|false|false|SNV|true|0x050000000b05040426000100|1|false|137|rs200096730]
 chr1	1141765	exm1730	C	T	.	PASS	FUNCOTATION=[TNFRSF18|hg19|chr1|1141765|1141765|SPLICE_SITE|MISSENSE|SNP|C|C|T|g.chr1:1141765C>T|ENST00000379268.2|-|1|307|c.187G>A|c.(187-189)Ggc>Agc|p.G63S|0.7107231920199502|GTTTACTTACCCGGGTAATCG|TNFRSF18_ENST00000379265.5_SPLICE_SITE_p.G63S/TNFRSF18_ENST00000328596.6_SPLICE_SITE_p.G63S/TNFRSF18_ENST00000486728.1_FIVE_PRIME_FLANK|||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||true|false|0.9976_%2C_0.002396|false|false|1||false|false|false|TNFRSF18:8784|true|true|false|true|true|false|false|false|false|false|false|true|false|false|false|false|false|false|false|true|72894038|1141765|false|false|0|false|0|false|0.99684_%2C_0.00315956|false|false|false|SNV|true|0x050000000a0504053e000100|1|false|130|rs72894038]
-chr1	1153073	exm1702568	G	A	.	PASS	FUNCOTATION=[SDF4|hg19|chr1|1153073|1153073|INTRON||SNP|G|G|A|g.chr1:1153073G>A|ENST00000360001.6|-|||c.e7+5C>T|||0.6583541147132169|GTAGCTCTGCGGGCGAGCGGG|SDF4_ENST00000263741.7_MISSENSE_p.R342C|||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||true|false|0.9996_%2C_0.0003994|false|false|0||false|false|false|SDF4:51150|false|true|true|true|true|false|false|false|false|false|false|true|false|false|false|false|false|false|false|true|199825378|1153073|false|false|0|true|0|false|0.999966_%2C_3.4343e-005|false|false|false|SNV|true|0x050100080a05040436000100|1|false|137|rs199825378]
-chr1	1153099	exm1829	G	A	.	PASS	FUNCOTATION=[SDF4|hg19|chr1|1153099|1153099|INTRON||SNP|G|G|A|g.chr1:1153099G>A|ENST00000360001.6|-|||c.e7+31C>T|||0.6483790523690773|GGTCAGCGTCGCCTTTCCCCC|SDF4_ENST00000263741.7_MISSENSE_p.A333V|||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||true|false|0.9996_%2C_0.0003994|false|false|0||false|false|false|SDF4:51150|false|true|true|false|true|false|false|false|false|false|false|true|false|false|false|false|false|false|false|true|139298872|1153099|false|false|0|false|0|false|0.999073_%2C_0.000927261|false|false|false|SNV|true|0x050000080a05040426000100|1|false|134|rs139298872]
-chr1	1153129	exm1832	C	T	.	PASS	FUNCOTATION=[SDF4|hg19|chr1|1153129|1153129|INTRON||SNP|C|C|T|g.chr1:1153129C>T|ENST00000360001.6|-|||c.e7+61G>A|||0.6408977556109726|CGCGGCCAGCCGCACGAAGTG|SDF4_ENST00000263741.7_MISSENSE_p.R323Q|||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||true|false|0.9946_%2C_0.005391|false|false|1||false|false|false|SDF4:51150|true|true|true|true|true|false|false|false|false|false|false|true|false|false|false|false|false|false|false|true|72894044|1153129|false|false|0|true|0|false|0.993028_%2C_0.00697163|false|false|false|SNV|true|0x050100080a0504053e000100|1|false|130|rs72894044]
+chr1	1153073	exm1702568	G	A	.	PASS	FUNCOTATION=[SDF4|hg19|chr1|1153073|1153073|INTRON||SNP|G|G|A|g.chr1:1153073G>A|ENST00000360001.6|-|||c.e7+5C>T|||0.6583541147132169|GTAGCTCTGCGGGCGAGCGGG|SDF4_ENST00000263741.7_MISSENSE_p.R342C/TNFRSF4_ENST00000379236.3_FIVE_PRIME_FLANK/TNFRSF4_ENST00000453580.1_FIVE_PRIME_FLANK|||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||true|false|0.9996_%2C_0.0003994|false|false|0||false|false|false|SDF4:51150|false|true|true|true|true|false|false|false|false|false|false|true|false|false|false|false|false|false|false|true|199825378|1153073|false|false|0|true|0|false|0.999966_%2C_3.4343e-005|false|false|false|SNV|true|0x050100080a05040436000100|1|false|137|rs199825378]
+chr1	1153099	exm1829	G	A	.	PASS	FUNCOTATION=[SDF4|hg19|chr1|1153099|1153099|INTRON||SNP|G|G|A|g.chr1:1153099G>A|ENST00000360001.6|-|||c.e7+31C>T|||0.6483790523690773|GGTCAGCGTCGCCTTTCCCCC|SDF4_ENST00000263741.7_MISSENSE_p.A333V/TNFRSF4_ENST00000379236.3_FIVE_PRIME_FLANK/TNFRSF4_ENST00000453580.1_FIVE_PRIME_FLANK|||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||true|false|0.9996_%2C_0.0003994|false|false|0||false|false|false|SDF4:51150|false|true|true|false|true|false|false|false|false|false|false|true|false|false|false|false|false|false|false|true|139298872|1153099|false|false|0|false|0|false|0.999073_%2C_0.000927261|false|false|false|SNV|true|0x050000080a05040426000100|1|false|134|rs139298872]
+chr1	1153129	exm1832	C	T	.	PASS	FUNCOTATION=[SDF4|hg19|chr1|1153129|1153129|INTRON||SNP|C|C|T|g.chr1:1153129C>T|ENST00000360001.6|-|||c.e7+61G>A|||0.6408977556109726|CGCGGCCAGCCGCACGAAGTG|SDF4_ENST00000263741.7_MISSENSE_p.R323Q/TNFRSF4_ENST00000379236.3_FIVE_PRIME_FLANK/TNFRSF4_ENST00000453580.1_FIVE_PRIME_FLANK|||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||true|false|0.9946_%2C_0.005391|false|false|1||false|false|false|SDF4:51150|true|true|true|true|true|false|false|false|false|false|false|true|false|false|false|false|false|false|false|true|72894044|1153129|false|false|0|true|0|false|0.993028_%2C_0.00697163|false|false|false|SNV|true|0x050100080a0504053e000100|1|false|130|rs72894044]
 chr1	1158277	rs3813199	G	A	.	PASS	FUNCOTATION=[SDF4|hg19|chr1|1158277|1158277|INTRON||SNP|G|G|A|g.chr1:1158277G>A|ENST00000360001.6|-|||c.e4-347C>T|||0.5860349127182045|ATGTACTCACGAGCCTACATG|SDF4_ENST00000263741.7_INTRON/SDF4_ENST00000545427.1_INTRON|||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||true|false|0.8758_%2C_0.1242|false|false|1||false|true|false|SDF4:51150|true|true|true|true|true|false|false|false|false|false|false|false|false|false|false|true|true|false|false|false|3813199|1158277|true|false|0|true|0|false|0.871042_%2C_0.128958|false|false|false|SNV|true|0x05012808000515053f000100|1|false|107|rs3813199]
 chr1	1159213	exm1864	G	A	.	PASS	FUNCOTATION=[SDF4|hg19|chr1|1159213|1159213|SPLICE_SITE|SILENT|SNP|G|G|A|g.chr1:1159213G>A|ENST00000360001.6|-|3|725|c.462C>T|c.(460-462)gaC>gaT|p.D154D|0.6608478802992519|CCACAGTACCGTCCCCGTCAG|SDF4_ENST00000263741.7_SPLICE_SITE_p.D154D/SDF4_ENST00000545427.1_SPLICE_SITE_p.D154D|||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||true|false|0.9988_%2C_0.001198|false|false|1||false|false|false|SDF4:51150|false|true|false|true|true|false|false|false|false|false|false|false|false|false|false|false|false|false|false|true|149289348|1159213|false|false|0|false|0|true|0.999141_%2C_0.000858575|false|false|false|SNV|true|0x050000000305040436000100|1|false|134|rs149289348]
 chr1	1159213	exm1864	G	A	.	PASS	FUNCOTATION=[SDF4|hg19|chr1|1159213|1159213|SPLICE_SITE|SILENT|SNP|G|G|A|g.chr1:1159213G>A|ENST00000360001.6|-|3|725|c.462C>T|c.(460-462)gaC>gaT|p.D154D|0.6608478802992519|CCACAGTACCGTCCCCGTCAG|SDF4_ENST00000263741.7_SPLICE_SITE_p.D154D/SDF4_ENST00000545427.1_SPLICE_SITE_p.D154D|||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||true|false|0.9988_%2C_0.001198|false|false|1||false|false|false|SDF4:51150|false|true|false|true|true|false|false|false|false|false|false|false|false|false|false|false|false|false|false|true|149289348|1159213|false|false|0|false|0|true|0.999141_%2C_0.000858575|false|false|false|SNV|true|0x050000000305040436000100|1|false|134|rs149289348]
-chr1	1163804	rs7515488	C	T	.	PASS	FUNCOTATION=[SDF4|hg19|chr1|1163804|1163804|INTRON||SNP|C|C|T|g.chr1:1163804C>T|ENST00000360001.6|-|||c.e2-44G>A|||0.6783042394014963|CACAGGCGAGCGCACGCGGAC|SDF4_ENST00000263741.7_INTRON/SDF4_ENST00000545427.1_INTRON/SDF4_ENST00000459994.2_INTRON|||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||true|false|0.8131_%2C_0.1869|false|false|1||false|true|true|SDF4:51150|true|true|true|true|true|false|false|false|false|false|false|false|false|false|false|true|true|false|false|false|7515488|1163804|false|false|0|true|0|false|0.830792_%2C_0.169208|false|false|false|SNV|true|0x05012808000517053f000100|1|false|116|rs7515488]
+chr1	1163804	rs7515488	C	T	.	PASS	FUNCOTATION=[SDF4|hg19|chr1|1163804|1163804|INTRON||SNP|C|C|T|g.chr1:1163804C>T|ENST00000360001.6|-|||c.e2-44G>A|||0.6783042394014963|CACAGGCGAGCGCACGCGGAC|SDF4_ENST00000263741.7_INTRON/SDF4_ENST00000545427.1_INTRON/B3GALT6_ENST00000379198.2_FIVE_PRIME_FLANK/SDF4_ENST00000459994.2_INTRON|||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||true|false|0.8131_%2C_0.1869|false|false|1||false|true|true|SDF4:51150|true|true|true|true|true|false|false|false|false|false|false|false|false|false|false|true|true|false|false|false|7515488|1163804|false|false|0|true|0|false|0.830792_%2C_0.169208|false|false|false|SNV|true|0x05012808000517053f000100|1|false|116|rs7515488]
 chr1	1178442	exm1949	G	A	.	PASS	FUNCOTATION=[FAM132A|hg19|chr1|1178442|1178442|SPLICE_SITE|MISSENSE|SNP|G|G|A|g.chr1:1178442G>A|ENST00000330388.2|-|6|763|c.731C>T|c.(730-732)aCg>aTg|p.T244M|0.6882793017456359|GGTCACTCACGTGTGGCGCTG||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||true|false||false|false|||false|false|false|FAM132A:388581|false|true|false|false|false|false|false|false|false|false|false|true|false|false|false|false|false|false|false|true|149401953|1178442|false|false|0|false|0|false||false|false|false|SNV|false|0x050000000a05000402000100|1|false|134|rs149401953]
 chr1	1178848	exm1965	G	A	.	PASS	FUNCOTATION=[FAM132A|hg19|chr1|1178848|1178848|NONSENSE||SNP|G|G|A|g.chr1:1178848G>A|ENST00000330388.2|-|5|648|c.616C>T|c.(616-618)Cag>Tag|p.Q206*|0.71571072319202|GCAGAGAACTGGAAGATGCCG||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||true|false|0.9968_%2C_0.003195|false|false|1||false|false|false|FAM132A:388581|false|true|false|true|true|false|false|false|false|false|false|false|true|false|false|false|false|false|false|true|115005664|1178848|false|false|0|false|0|false|0.993474_%2C_0.00652562|false|false|false|SNV|true|0x050000000605040436000100|1|false|132|rs115005664]
 chr1	1179619	exm1987	C	A	.	PASS	FUNCOTATION=[FAM132A|hg19|chr1|1179619|1179619|NONSENSE||SNP|C|C|A|g.chr1:1179619C>A|ENST00000330388.2|-|3|363|c.331G>T|c.(331-333)Gaa>Taa|p.E111*|0.6982543640897756|GCGGTCACTTCTGCACCTGGA||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||true|false||false|false|||false|false|false|FAM132A:388581|false|true|false|false|false|false|false|false|false|false|false|false|true|false|false|false|false|false|false|true|201741650|1179619|false|false|0|false|0|false|0.999966_%2C_3.43454e-005|false|false|false|SNV|true|0x050000000605040402000100|1|false|137|rs201741650]
@@ -412,12 +412,12 @@ chr1	1248329	exm2590	G	A	.	PASS	FUNCOTATION=[CPSF3L|hg19|chr1|1248329|1248329|SP
 chr1	1248329	exm2590	G	A	.	PASS	FUNCOTATION=[CPSF3L|hg19|chr1|1248329|1248329|SPLICE_SITE|SILENT|SNP|G|G|A|g.chr1:1248329G>A|ENST00000435064.1|-|12|1215|c.1132C>T|c.(1132-1134)Ctg>Ttg|p.L378L|0.6683291770573566|TTGACCTCCAGCTACAGAGGC|CPSF3L_ENST00000421495.2_SPLICE_SITE_p.L120L/CPSF3L_ENST00000450926.2_SPLICE_SITE_p.L356L/CPSF3L_ENST00000411962.1_SPLICE_SITE_p.L280L/CPSF3L_ENST00000419704.1_SPLICE_SITE_p.L277L/CPSF3L_ENST00000540437.1_SPLICE_SITE_p.L384L/CPSF3L_ENST00000545578.1_SPLICE_SITE_p.L349L/ACAP3_ENST00000354700.5_FIVE_PRIME_FLANK/CPSF3L_ENST00000462432.1_SPLICE_SITE|||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||true|false|0.9982_%2C_0.001797|false|false|1||false|false|false|MIR6727:102465435_%7C_CPSF3L:54973|false|true|false|true|true|false|false|false|false|false|false|false|false|false|false|false|false|false|true|true|56104163|1248329|false|true|0|true|0|true|0.997321_%2C_0.00267876|false|false|false|SNV|true|0x050300020305040436000100|1|false|129|rs56104163]
 chr1	1249193	indel.166	C	CGCAA	.	PASS	FUNCOTATION=[CPSF3L|hg19|chr1|1249193|1249194|FRAME_SHIFT_INS||INS|-|-|GCAA|g.chr1:1249193_1249194insGCAA|ENST00000435064.1|-|9|959|c.875_876insTTGC|c.(874-876)aagfs|p.K292fs|0.6325|CACGAAAGTCTTGCGGATCT|CPSF3L_ENST00000421495.2_FRAME_SHIFT_INS_p.K34fs/CPSF3L_ENST00000450926.2_FRAME_SHIFT_INS_p.K270fs/CPSF3L_ENST00000411962.1_FRAME_SHIFT_INS_p.K194fs/CPSF3L_ENST00000419704.1_FRAME_SHIFT_INS_p.K191fs/CPSF3L_ENST00000540437.1_FRAME_SHIFT_INS_p.K298fs/CPSF3L_ENST00000545578.1_FRAME_SHIFT_INS_p.K263fs/CPSF3L_ENST00000462432.1_INTRON|||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||true|false||false|false|||false|false|false|MIR6727:102465435_%7C_CPSF3L:54973|false|true|false|false|false|false|false|false|false|false|true|false|false|false|false|false|false|false|true|true|752230074|1249193|false|false|0|false|0|false||false|false|false|DIV|false|0x050000021205000402000200|1|false|144|rs752230074]
 chr1	1250794	variant.168	G	A	.	PASS	FUNCOTATION=[CPSF3L|hg19|chr1|1250794|1250794|NONSENSE||SNP|G|G|A|g.chr1:1250794G>A|ENST00000435064.1|-|6|636|c.553C>T|c.(553-555)Cga>Tga|p.R185*|0.6084788029925187|CCTAAGTGTCGGTCTGGGGTC|CPSF3L_ENST00000450926.2_NONSENSE_p.R163*/CPSF3L_ENST00000411962.1_NONSENSE_p.R87*/CPSF3L_ENST00000419704.1_NONSENSE_p.R84*/CPSF3L_ENST00000421495.2_FIVE_PRIME_UTR/CPSF3L_ENST00000540437.1_NONSENSE_p.R191*/CPSF3L_ENST00000545578.1_NONSENSE_p.R156*/CPSF3L_ENST00000462432.1_INTRON|||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||true|false||false|false|||false|false|false|CPSF3L:54973|false|true|false|false|false|false|false|false|false|false|false|true|true|false|false|false|false|false|false|true|373723769|1250794|false|true|0|false|0|false||false|false|false|SNV|true|0x050200000e05040402000100|1|false|138|rs373723769]
-chr1	1254255	psy_rs62623580	G	A	.	PASS	FUNCOTATION=[CPSF3L|hg19|chr1|1254255|1254255|INTRON||SNP|G|G|A|g.chr1:1254255G>A|ENST00000435064.1|-|||c.e4-421C>T|||0.49875311720698257|CTTCTTCCCTGACCCACACCC|CPSF3L_ENST00000421495.2_INTRON/CPSF3L_ENST00000450926.2_INTRON/CPSF3L_ENST00000411962.1_INTRON/CPSF3L_ENST00000419704.1_INTRON/CPSF3L_ENST00000540437.1_INTRON/CPSF3L_ENST00000545578.1_INTRON/CPSF3L_ENST00000462432.1_FIVE_PRIME_FLANK|||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||true|false|0.9373_%2C_0.0627|false|false|1||false|true|false|CPSF3L:54973|false|true|true|true|true|false|false|false|false|false|false|false|false|false|false|false|false|false|true|false|62623580|1254255|true|false|0|true|0|false|0.946974_%2C_0.0530256|false|false|false|SNV|true|0x0501000a0005150436000100|1|false|129|rs62623580]
-chr1	1254678	exm2656	G	A	.	PASS	FUNCOTATION=[CPSF3L|hg19|chr1|1254678|1254678|NONSENSE||SNP|G|G|A|g.chr1:1254678G>A|ENST00000435064.1|-|4|510|c.427C>T|c.(427-429)Cag>Tag|p.Q143*|0.628428927680798|AACCTGACCTGGACCGTCTGG|CPSF3L_ENST00000450926.2_NONSENSE_p.Q143*/CPSF3L_ENST00000421495.2_INTRON/CPSF3L_ENST00000411962.1_INTRON/CPSF3L_ENST00000419704.1_INTRON/CPSF3L_ENST00000540437.1_NONSENSE_p.Q149*/CPSF3L_ENST00000545578.1_NONSENSE_p.Q114*/CPSF3L_ENST00000462432.1_FIVE_PRIME_FLANK|||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||true|false||false|false|||false|false|false|CPSF3L:54973|false|true|true|false|false|false|false|false|false|false|false|false|true|false|false|false|false|false|true|true|200207309|1254678|false|true|0|false|0|false||false|false|false|SNV|false|0x0502000a0605000402000100|1|false|137|rs200207309]
-chr1	1254694	exm2249782	G	A	.	PASS	FUNCOTATION=[CPSF3L|hg19|chr1|1254694|1254694|SILENT||SNP|G|G|A|g.chr1:1254694G>A|ENST00000435064.1|-|4|494|c.411C>T|c.(409-411)caC>caT|p.H137H|0.628428927680798|TCTGGTGGAGGTGGACAGCCA|CPSF3L_ENST00000450926.2_SILENT_p.H137H/CPSF3L_ENST00000421495.2_INTRON/CPSF3L_ENST00000411962.1_INTRON/CPSF3L_ENST00000419704.1_INTRON/CPSF3L_ENST00000540437.1_SILENT_p.H143H/CPSF3L_ENST00000545578.1_SILENT_p.H108H/CPSF3L_ENST00000462432.1_FIVE_PRIME_FLANK|||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||true|false||false|false|||false|false|false|CPSF3L:54973|false|true|true|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|true|true|145964828|1254694|false|true|0|false|0|true||false|false|false|SNV|true|0x0502000a0305040402000100|1|false|134|rs145964828]
-chr1	1256453	exm2676	G	A	.	PASS	FUNCOTATION=[CPSF3L|hg19|chr1|1256453|1256453|NONSENSE||SNP|G|G|A|g.chr1:1256453G>A|ENST00000435064.1|-|2|132|c.49C>T|c.(49-51)Cga>Tga|p.R17*|0.6458852867830424|ATGCAGCTTCGGCCCACGTCC|CPSF3L_ENST00000450926.2_NONSENSE_p.R17*/CPSF3L_ENST00000419704.1_NONSENSE_p.R17*/CPSF3L_ENST00000421495.2_INTRON/CPSF3L_ENST00000411962.1_INTRON/CPSF3L_ENST00000540437.1_NONSENSE_p.R23*/CPSF3L_ENST00000545578.1_FIVE_PRIME_UTR/GLTPD1_ENST00000343938.4_FIVE_PRIME_FLANK/CPSF3L_ENST00000462432.1_FIVE_PRIME_FLANK/GLTPD1_ENST00000464957.1_FIVE_PRIME_FLANK|||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||true|false|0.9998_%2C_0.0001997|false|false|0||false|false|false|CPSF3L:54973|false|true|true|true|true|false|false|false|false|false|false|false|true|false|false|false|false|false|false|true|200498230|1256453|false|true|0|false|0|false|0.999897_%2C_0.000103029|false|false|true|SNV|true|0x050200480605040436000100|1|false|137|rs200498230]
-chr1	1258246	rs3845293	A	C	.	PASS	FUNCOTATION=[CPSF3L|hg19|chr1|1258246|1258246|INTRON||SNP|A|A|C|g.chr1:1258246A>C|ENST00000435064.1|-|||c.e1-1715T>G|||0.6359102244389028|GGAAGCGGTGAAACAGGACTT|CPSF3L_ENST00000421495.2_INTRON/CPSF3L_ENST00000450926.2_INTRON/CPSF3L_ENST00000411962.1_INTRON/CPSF3L_ENST00000419704.1_INTRON/CPSF3L_ENST00000540437.1_INTRON/CPSF3L_ENST00000545578.1_INTRON/GLTPD1_ENST00000343938.4_FIVE_PRIME_FLANK/GLTPD1_ENST00000464957.1_FIVE_PRIME_FLANK|||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||true|false|0.2829_%2C_0.7171_%2C_.|false|false|1||false|true|true|CPTP:80772_%7C_CPSF3L:54973|true|true|true|true|true|false|false|false|false|false|false|false|false|false|false|false|false|false|true|false|3845293|1258246|false|false|0|true|0|false||false|false|false|SNV|true|0x0501000a0005170537000100|1|false|108|rs3845293]
-chr1	1264539	rs307354	G	C	.	PASS	FUNCOTATION=[CPSF3L|hg19|chr1|1264539|1264539|FIVE_PRIME_FLANK||SNP|G|G|C|g.chr1:1264539G>C|ENST00000411962.1|-||||||0.6059850374064838|ACAAGAGAGAGACAGAGTCAC|CPSF3L_ENST00000419704.1_FIVE_PRIME_FLANK/CPSF3L_ENST00000421495.2_FIVE_PRIME_FLANK/CPSF3L_ENST00000435064.1_FIVE_PRIME_FLANK/CPSF3L_ENST00000450926.2_FIVE_PRIME_FLANK/CPSF3L_ENST00000540437.1_FIVE_PRIME_FLANK/CPSF3L_ENST00000545578.1_FIVE_PRIME_FLANK|||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||false|false||false|false|||false|false|false||false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|||false|false||false||false||false|false|false||false|||false||]
+chr1	1254255	psy_rs62623580	G	A	.	PASS	FUNCOTATION=[CPSF3L|hg19|chr1|1254255|1254255|INTRON||SNP|G|G|A|g.chr1:1254255G>A|ENST00000435064.1|-|||c.e4-421C>T|||0.49875311720698257|CTTCTTCCCTGACCCACACCC|CPSF3L_ENST00000421495.2_INTRON/CPSF3L_ENST00000450926.2_INTRON/CPSF3L_ENST00000411962.1_INTRON/CPSF3L_ENST00000419704.1_INTRON/CPSF3L_ENST00000540437.1_INTRON/CPSF3L_ENST00000545578.1_INTRON/CPSF3L_ENST00000462432.1_FIVE_PRIME_FLANK/RP5-890O3.9_ENST00000444968.1_FIVE_PRIME_FLANK|||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||true|false|0.9373_%2C_0.0627|false|false|1||false|true|false|CPSF3L:54973|false|true|true|true|true|false|false|false|false|false|false|false|false|false|false|false|false|false|true|false|62623580|1254255|true|false|0|true|0|false|0.946974_%2C_0.0530256|false|false|false|SNV|true|0x0501000a0005150436000100|1|false|129|rs62623580]
+chr1	1254678	exm2656	G	A	.	PASS	FUNCOTATION=[CPSF3L|hg19|chr1|1254678|1254678|NONSENSE||SNP|G|G|A|g.chr1:1254678G>A|ENST00000435064.1|-|4|510|c.427C>T|c.(427-429)Cag>Tag|p.Q143*|0.628428927680798|AACCTGACCTGGACCGTCTGG|CPSF3L_ENST00000450926.2_NONSENSE_p.Q143*/CPSF3L_ENST00000421495.2_INTRON/CPSF3L_ENST00000411962.1_INTRON/CPSF3L_ENST00000419704.1_INTRON/CPSF3L_ENST00000540437.1_NONSENSE_p.Q149*/CPSF3L_ENST00000545578.1_NONSENSE_p.Q114*/CPSF3L_ENST00000462432.1_FIVE_PRIME_FLANK/RP5-890O3.9_ENST00000444968.1_FIVE_PRIME_FLANK|||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||true|false||false|false|||false|false|false|CPSF3L:54973|false|true|true|false|false|false|false|false|false|false|false|false|true|false|false|false|false|false|true|true|200207309|1254678|false|true|0|false|0|false||false|false|false|SNV|false|0x0502000a0605000402000100|1|false|137|rs200207309]
+chr1	1254694	exm2249782	G	A	.	PASS	FUNCOTATION=[CPSF3L|hg19|chr1|1254694|1254694|SILENT||SNP|G|G|A|g.chr1:1254694G>A|ENST00000435064.1|-|4|494|c.411C>T|c.(409-411)caC>caT|p.H137H|0.628428927680798|TCTGGTGGAGGTGGACAGCCA|CPSF3L_ENST00000450926.2_SILENT_p.H137H/CPSF3L_ENST00000421495.2_INTRON/CPSF3L_ENST00000411962.1_INTRON/CPSF3L_ENST00000419704.1_INTRON/CPSF3L_ENST00000540437.1_SILENT_p.H143H/CPSF3L_ENST00000545578.1_SILENT_p.H108H/CPSF3L_ENST00000462432.1_FIVE_PRIME_FLANK/RP5-890O3.9_ENST00000444968.1_FIVE_PRIME_FLANK|||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||true|false||false|false|||false|false|false|CPSF3L:54973|false|true|true|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|true|true|145964828|1254694|false|true|0|false|0|true||false|false|false|SNV|true|0x0502000a0305040402000100|1|false|134|rs145964828]
+chr1	1256453	exm2676	G	A	.	PASS	FUNCOTATION=[CPSF3L|hg19|chr1|1256453|1256453|NONSENSE||SNP|G|G|A|g.chr1:1256453G>A|ENST00000435064.1|-|2|132|c.49C>T|c.(49-51)Cga>Tga|p.R17*|0.6458852867830424|ATGCAGCTTCGGCCCACGTCC|CPSF3L_ENST00000450926.2_NONSENSE_p.R17*/CPSF3L_ENST00000419704.1_NONSENSE_p.R17*/CPSF3L_ENST00000421495.2_INTRON/CPSF3L_ENST00000411962.1_INTRON/CPSF3L_ENST00000540437.1_NONSENSE_p.R23*/CPSF3L_ENST00000545578.1_FIVE_PRIME_UTR/GLTPD1_ENST00000343938.4_FIVE_PRIME_FLANK/CPSF3L_ENST00000462432.1_FIVE_PRIME_FLANK/GLTPD1_ENST00000464957.1_FIVE_PRIME_FLANK/RP5-890O3.9_ENST00000444968.1_FIVE_PRIME_FLANK|||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||true|false|0.9998_%2C_0.0001997|false|false|0||false|false|false|CPSF3L:54973|false|true|true|true|true|false|false|false|false|false|false|false|true|false|false|false|false|false|false|true|200498230|1256453|false|true|0|false|0|false|0.999897_%2C_0.000103029|false|false|true|SNV|true|0x050200480605040436000100|1|false|137|rs200498230]
+chr1	1258246	rs3845293	A	C	.	PASS	FUNCOTATION=[CPSF3L|hg19|chr1|1258246|1258246|INTRON||SNP|A|A|C|g.chr1:1258246A>C|ENST00000435064.1|-|||c.e1-1715T>G|||0.6359102244389028|GGAAGCGGTGAAACAGGACTT|CPSF3L_ENST00000421495.2_INTRON/CPSF3L_ENST00000450926.2_INTRON/CPSF3L_ENST00000411962.1_INTRON/CPSF3L_ENST00000419704.1_INTRON/CPSF3L_ENST00000540437.1_INTRON/CPSF3L_ENST00000545578.1_INTRON/GLTPD1_ENST00000343938.4_FIVE_PRIME_FLANK/GLTPD1_ENST00000464957.1_FIVE_PRIME_FLANK/RP5-890O3.9_ENST00000444968.1_FIVE_PRIME_FLANK|||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||true|false|0.2829_%2C_0.7171_%2C_.|false|false|1||false|true|true|CPTP:80772_%7C_CPSF3L:54973|true|true|true|true|true|false|false|false|false|false|false|false|false|false|false|false|false|false|true|false|3845293|1258246|false|false|0|true|0|false||false|false|false|SNV|true|0x0501000a0005170537000100|1|false|108|rs3845293]
+chr1	1264539	rs307354	G	C	.	PASS	FUNCOTATION=[TAS1R3|hg19|chr1|1264539|1264539|FIVE_PRIME_FLANK||SNP|G|G|C|g.chr1:1264539G>C|ENST00000339381.5|+||||||0.6059850374064838|ACAAGAGAGAGACAGAGTCAC|CPSF3L_ENST00000411962.1_FIVE_PRIME_FLANK/CPSF3L_ENST00000419704.1_FIVE_PRIME_FLANK/CPSF3L_ENST00000421495.2_FIVE_PRIME_FLANK/CPSF3L_ENST00000435064.1_FIVE_PRIME_FLANK/CPSF3L_ENST00000450926.2_FIVE_PRIME_FLANK/CPSF3L_ENST00000540437.1_FIVE_PRIME_FLANK/CPSF3L_ENST00000545578.1_FIVE_PRIME_FLANK|||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||false|false||false|false|||false|false|false||false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|||false|false||false||false||false|false|false||false|||false||]
 chr1	1275882	exm3075	G	A	.	PASS	FUNCOTATION=[DVL1|hg19|chr1|1275882|1275882|SPLICE_SITE|MISSENSE|SNP|G|G|A|g.chr1:1275882G>A|ENST00000378888.5|-|6|892|c.607C>T|c.(607-609)Ctc>Ttc|p.L203F|0.6334164588528678|GAGCTGCTGAGCCTGGGAACA|DVL1_ENST00000378891.5_SPLICE_SITE_p.L203F|||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||true|false|0.9992_%2C_0.0007987_%2C_.|false|false|1||false|false|false|MIR6808:102466740_%7C_DVL1:1855|false|true|false|true|true|false|false|false|false|false|false|true|false|false|false|false|false|false|true|true|148942048|1275882|false|false|0|false|0|false|0.998901_%2C_0.00106463_%2C_3.4343e-005|false|false|false|SNV|true|0x050000020a05040436000100|1|false|134|rs148942048]
 chr1	1275883	exm3076	C	T	.	PASS	FUNCOTATION=[DVL1|hg19|chr1|1275883|1275883|SPLICE_SITE|SILENT|SNP|C|C|T|g.chr1:1275883C>T|ENST00000378888.5|-|6|891|c.606G>A|c.(604-606)agG>agA|p.R202R|0.6334164588528678|AGCTGCTGAGCCTGGGAACAG|DVL1_ENST00000378891.5_SPLICE_SITE_p.R202R|||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||true|false|0.9988_%2C_0.001198|false|false|1||false|false|false|MIR6808:102466740_%7C_DVL1:1855|false|true|false|true|true|false|false|false|false|false|false|false|false|false|false|false|false|false|true|true|143175544|1275883|false|false|0|false|0|true|0.999038_%2C_0.000961605|false|false|false|SNV|true|0x050000020305040436000100|1|false|134|rs143175544]
 chr1	1275883	exm3076	C	T	.	PASS	FUNCOTATION=[DVL1|hg19|chr1|1275883|1275883|SPLICE_SITE|SILENT|SNP|C|C|T|g.chr1:1275883C>T|ENST00000378888.5|-|6|891|c.606G>A|c.(604-606)agG>agA|p.R202R|0.6334164588528678|AGCTGCTGAGCCTGGGAACAG|DVL1_ENST00000378891.5_SPLICE_SITE_p.R202R|||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||true|false|0.9988_%2C_0.001198|false|false|1||false|false|false|MIR6808:102466740_%7C_DVL1:1855|false|true|false|true|true|false|false|false|false|false|false|false|false|false|false|false|false|false|true|true|143175544|1275883|false|false|0|false|0|true|0.999038_%2C_0.000961605|false|false|false|SNV|true|0x050000020305040436000100|1|false|134|rs143175544]
@@ -426,13 +426,13 @@ chr1	1277184	exm1707125	G	A	.	PASS	FUNCOTATION=[DVL1|hg19|chr1|1277184|1277184|S
 chr1	1287127	rs307380	G	A	.	PASS	FUNCOTATION=[DVL1|hg19|chr1|1287127|1287127|FIVE_PRIME_FLANK||SNP|G|G|A|g.chr1:1287127G>A|ENST00000378888.5|-||||||0.6508728179551122|AGCCAGGCAGGAAGACCTAAG|DVL1_ENST00000378891.5_FIVE_PRIME_FLANK|||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||false|false||false|false|||false|false|false||false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|||false|false||false||false||false|false|false||false|||false||]
 chr1	1305561	rs17160669	C	T	.	PASS	FUNCOTATION=[Unknown|hg19|chr1|1305561|1305561|IGR||SNP|C|C|T|g.chr1:1305561C>T|no_transcript|||||||0.5211970074812967|CATGGCTTCCCGGCAAGTTAA||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||false|false||false|false|||false|false|false||false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|||false|false||false||false||false|false|false||false|||false||]
 chr1	1309583	exm3225	G	A	.	PASS	FUNCOTATION=[AURKAIP1|hg19|chr1|1309583|1309583|NONSENSE||SNP|G|G|A|g.chr1:1309583G>A|ENST00000338370.3|-|2|696|c.295C>T|c.(295-297)Caa>Taa|p.Q99*|0.6533665835411472|TGGTAGGATTGCGGTGGAGCC|AURKAIP1_ENST00000338338.5_NONSENSE_p.Q99*/AURKAIP1_ENST00000378853.3_NONSENSE_p.Q99*/AURKAIP1_ENST00000321751.5_NONSENSE_p.Q99*|||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||false|false||false|false|||false|false|false||false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|||false|false||false||false||false|false|false||false|||false||]
-chr1	1335302	rs1240707	C	T	.	PASS	FUNCOTATION=[RP4-758J18.2|hg19|chr1|1335302|1335302|INTRON||SNP|C|C|T|g.chr1:1335302C>T|ENST00000448629.2|+|||c.e1+233C>T|||0.655860349127182|AACACTCAGCCCCTGGGGAGA|RP4-758J18.2_ENST00000444362.1_INTRON/RP4-758J18.2_ENST00000576232.1_INTRON/RP4-758J18.2_ENST00000453521.1_FIVE_PRIME_FLANK|||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||false|false||false|false|||false|false|false||false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|||false|false||false||false||false|false|false||false|||false||]
-chr1	1335790	rs1240708	A	G	.	PASS	FUNCOTATION=[RP4-758J18.2|hg19|chr1|1335790|1335790|INTRON||SNP|A|A|G|g.chr1:1335790A>G|ENST00000448629.2|+|||c.e2+107A>G|||0.5760598503740648|AGCTGCCAGTAACTGCCCAGC|RP4-758J18.2_ENST00000576232.1_THREE_PRIME_UTR/RP4-758J18.2_ENST00000444362.1_INTRON/RP4-758J18.2_ENST00000453521.1_FIVE_PRIME_FLANK|||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||false|false||false|false|||false|false|false||false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|||false|false||false||false||false|false|false||false|||false||]
-chr1	1341171	variant.210	C	T	.	PASS	FUNCOTATION=[MRPL20|hg19|chr1|1341171|1341171|INTRON||SNP|C|C|T|g.chr1:1341171C>T|ENST00000344843.7|-|||c.e3-18G>A|||0.4513715710723192|TCAGTGGGACCCACATACTCA|MRPL20_ENST00000482352.1_NONSENSE_p.W98*/MRPL20_ENST00000493287.1_INTRON|||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||false|false||false|false|||false|false|false||false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|||false|false||false||false||false|false|false||false|||false||]
-chr1	1354515	exm3350	C	G	.	PASS	FUNCOTATION=[ANKRD65|hg19|chr1|1354515|1354515|THREE_PRIME_UTR||SNP|C|C|G|g.chr1:1354515C>G|ENST00000520296.1|-|3|||||0.6683291770573566|CACTCCTTCTCCCCCCCTCCA|ANKRD65_ENST00000427211.1_THREE_PRIME_UTR/ANKRD65_ENST00000537107.1_MISSENSE_p.E389Q/ANKRD65_ENST00000454272.1_INTRON|||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||false|false||false|false|||false|false|false||false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|||false|false||false||false||false|false|false||false|||false||]
-chr1	1354538	exm3352	G	A	.	PASS	FUNCOTATION=[ANKRD65|hg19|chr1|1354538|1354538|THREE_PRIME_UTR||SNP|G|G|A|g.chr1:1354538G>A|ENST00000520296.1|-|3|||||0.6708229426433915|TTCAGGCAGCGCCTGGGGCAG|ANKRD65_ENST00000427211.1_THREE_PRIME_UTR/ANKRD65_ENST00000442470.1_THREE_PRIME_UTR/ANKRD65_ENST00000537107.1_MISSENSE_p.A381V/ANKRD65_ENST00000454272.1_INTRON|||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||false|false||false|false|||false|false|false||false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|||false|false||false||false||false|false|false||false|||false||]
-chr1	1354844	exm3367	C	T	.	PASS	FUNCOTATION=[ANKRD65|hg19|chr1|1354844|1354844|THREE_PRIME_UTR||SNP|C|C|T|g.chr1:1354844C>T|ENST00000520296.1|-|3|||||0.6882793017456359|CAGGTGTCCTCGGGCGGCAGC|ANKRD65_ENST00000427211.1_MISSENSE_p.E99K/ANKRD65_ENST00000442470.1_MISSENSE_p.E99K/ANKRD65_ENST00000537107.1_MISSENSE_p.R279Q/ANKRD65_ENST00000454272.1_INTRON|||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||false|false||false|false|||false|false|false||false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|||false|false||false||false||false|false|false||false|||false||]
-chr1	1354920	exm3369	C	A	.	PASS	FUNCOTATION=[ANKRD65|hg19|chr1|1354920|1354920|THREE_PRIME_UTR||SNP|C|C|A|g.chr1:1354920C>A|ENST00000520296.1|-|3|||||0.6658354114713217|CCCAGCAGCACCTCAATGTCC|ANKRD65_ENST00000427211.1_MISSENSE_p.R73S/ANKRD65_ENST00000442470.1_MISSENSE_p.R73S/ANKRD65_ENST00000537107.1_MISSENSE_p.V254L/ANKRD65_ENST00000454272.1_INTRON|||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||false|false||false|false|||false|false|false||false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|||false|false||false||false||false|false|false||false|||false||]
+chr1	1335302	rs1240707	C	T	.	PASS	FUNCOTATION=[RP4-758J18.2|hg19|chr1|1335302|1335302|INTRON||SNP|C|C|T|g.chr1:1335302C>T|ENST00000448629.2|+|||c.e1+233C>T|||0.655860349127182|AACACTCAGCCCCTGGGGAGA|RP4-758J18.2_ENST00000444362.1_INTRON/RP4-758J18.2_ENST00000576232.1_INTRON/CCNL2_ENST00000400809.3_FIVE_PRIME_FLANK/CCNL2_ENST00000408918.4_FIVE_PRIME_FLANK/CCNL2_ENST00000408952.5_FIVE_PRIME_FLANK/RP4-758J18.2_ENST00000453521.1_FIVE_PRIME_FLANK|||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||false|false||false|false|||false|false|false||false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|||false|false||false||false||false|false|false||false|||false||]
+chr1	1335790	rs1240708	A	G	.	PASS	FUNCOTATION=[RP4-758J18.2|hg19|chr1|1335790|1335790|INTRON||SNP|A|A|G|g.chr1:1335790A>G|ENST00000448629.2|+|||c.e2+107A>G|||0.5760598503740648|AGCTGCCAGTAACTGCCCAGC|RP4-758J18.2_ENST00000576232.1_THREE_PRIME_UTR/RP4-758J18.2_ENST00000444362.1_INTRON/CCNL2_ENST00000400809.3_FIVE_PRIME_FLANK/CCNL2_ENST00000408918.4_FIVE_PRIME_FLANK/CCNL2_ENST00000408952.5_FIVE_PRIME_FLANK/RP4-758J18.2_ENST00000453521.1_FIVE_PRIME_FLANK|||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||false|false||false|false|||false|false|false||false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|||false|false||false||false||false|false|false||false|||false||]
+chr1	1341171	variant.210	C	T	.	PASS	FUNCOTATION=[MRPL20|hg19|chr1|1341171|1341171|INTRON||SNP|C|C|T|g.chr1:1341171C>T|ENST00000344843.7|-|||c.e3-18G>A|||0.4513715710723192|TCAGTGGGACCCACATACTCA|MRPL20_ENST00000482352.1_NONSENSE_p.W98*/MRPL20_ENST00000493287.1_INTRON/RN7SL657P_ENST00000582431.1_FIVE_PRIME_FLANK/RP4-758J18.13_ENST00000607307.1_FIVE_PRIME_FLANK|||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||false|false||false|false|||false|false|false||false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|||false|false||false||false||false|false|false||false|||false||]
+chr1	1354515	exm3350	C	G	.	PASS	FUNCOTATION=[ANKRD65|hg19|chr1|1354515|1354515|THREE_PRIME_UTR||SNP|C|C|G|g.chr1:1354515C>G|ENST00000520296.1|-|3|||||0.6683291770573566|CACTCCTTCTCCCCCCCTCCA|ANKRD65_ENST00000427211.1_THREE_PRIME_UTR/ANKRD65_ENST00000537107.1_MISSENSE_p.E389Q/ANKRD65_ENST00000454272.1_INTRON/RP4-758J18.7_ENST00000428932.1_FIVE_PRIME_FLANK|||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||false|false||false|false|||false|false|false||false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|||false|false||false||false||false|false|false||false|||false||]
+chr1	1354538	exm3352	G	A	.	PASS	FUNCOTATION=[ANKRD65|hg19|chr1|1354538|1354538|THREE_PRIME_UTR||SNP|G|G|A|g.chr1:1354538G>A|ENST00000520296.1|-|3|||||0.6708229426433915|TTCAGGCAGCGCCTGGGGCAG|ANKRD65_ENST00000427211.1_THREE_PRIME_UTR/ANKRD65_ENST00000442470.1_THREE_PRIME_UTR/ANKRD65_ENST00000537107.1_MISSENSE_p.A381V/ANKRD65_ENST00000454272.1_INTRON/RP4-758J18.7_ENST00000428932.1_FIVE_PRIME_FLANK|||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||false|false||false|false|||false|false|false||false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|||false|false||false||false||false|false|false||false|||false||]
+chr1	1354844	exm3367	C	T	.	PASS	FUNCOTATION=[ANKRD65|hg19|chr1|1354844|1354844|THREE_PRIME_UTR||SNP|C|C|T|g.chr1:1354844C>T|ENST00000520296.1|-|3|||||0.6882793017456359|CAGGTGTCCTCGGGCGGCAGC|ANKRD65_ENST00000427211.1_MISSENSE_p.E99K/ANKRD65_ENST00000442470.1_MISSENSE_p.E99K/ANKRD65_ENST00000537107.1_MISSENSE_p.R279Q/ANKRD65_ENST00000454272.1_INTRON/RP4-758J18.7_ENST00000428932.1_FIVE_PRIME_FLANK|||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||false|false||false|false|||false|false|false||false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|||false|false||false||false||false|false|false||false|||false||]
+chr1	1354920	exm3369	C	A	.	PASS	FUNCOTATION=[ANKRD65|hg19|chr1|1354920|1354920|THREE_PRIME_UTR||SNP|C|C|A|g.chr1:1354920C>A|ENST00000520296.1|-|3|||||0.6658354114713217|CCCAGCAGCACCTCAATGTCC|ANKRD65_ENST00000427211.1_MISSENSE_p.R73S/ANKRD65_ENST00000442470.1_MISSENSE_p.R73S/ANKRD65_ENST00000537107.1_MISSENSE_p.V254L/ANKRD65_ENST00000454272.1_INTRON/RP4-758J18.7_ENST00000428932.1_FIVE_PRIME_FLANK|||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||false|false||false|false|||false|false|false||false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|||false|false||false||false||false|false|false||false|||false||]
 chr1	1366830	rs873927	A	G	.	PASS	FUNCOTATION=[VWA1|hg19|chr1|1366830|1366830|FIVE_PRIME_FLANK||SNP|A|A|G|g.chr1:1366830A>G|ENST00000338660.5|+||||||0.6633416458852868|CCACTTCAGGACCCTGGGTCC|VWA1_ENST00000404702.3_FIVE_PRIME_FLANK/VWA1_ENST00000476993.1_FIVE_PRIME_FLANK/RP4-758J18.10_ENST00000417917.1_LINCRNA|||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||true|false|0.3157_%2C_0.6843|false|false|1||false|true|false|LOC102724312:102724312|true|true|true|true|true|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|873927|1366830|true|false|0|true|0|false|0.497733_%2C_0.502267|false|false|false|SNV|true|0x050100080005150537000100|1|false|92|rs873927]
 chr1	1372743	exm3425	C	T	.	PASS	FUNCOTATION=[VWA1|hg19|chr1|1372743|1372743|SILENT||SNP|C|C|T|g.chr1:1372743C>T|ENST00000476993.1|+|2|588|c.510C>T|c.(508-510)acC>acT|p.T170T|0.6334164588528678|TTGTCAGCACCGGCCGAGGCA|VWA1_ENST00000338660.5_MISSENSE_p.R39W/VWA1_ENST00000404702.3_FIVE_PRIME_UTR/RP4-758J18.10_ENST00000417917.1_FIVE_PRIME_FLANK|||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||false|false||false|false|||false|false|false||false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|||false|false||false||false||false|false|false||false|||false||]
 chr1	1372773	exm3429	C	T	.	PASS	FUNCOTATION=[VWA1|hg19|chr1|1372773|1372773|SILENT||SNP|C|C|T|g.chr1:1372773C>T|ENST00000476993.1|+|2|618|c.540C>T|c.(538-540)gcC>gcT|p.A180A|0.6384039900249376|AGCTGTCAGCCGCTGCCTCAG|VWA1_ENST00000338660.5_MISSENSE_p.R49C/VWA1_ENST00000404702.3_FIVE_PRIME_UTR/RP4-758J18.10_ENST00000417917.1_FIVE_PRIME_FLANK|||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||false|false||false|false|||false|false|false||false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|||false|false||false||false||false|false|false||false|||false||]
@@ -453,12 +453,12 @@ chr1	1489670	rs7531530	C	T	.	PASS	FUNCOTATION=[SSU72|hg19|chr1|1489670|1489670|I
 chr1	1521595	rs6604983	A	G	.	PASS	FUNCOTATION=[Unknown|hg19|chr1|1521595|1521595|IGR||SNP|A|A|G|g.chr1:1521595A>G|no_transcript|||||||0.5461346633416458|CGAAGAGGACAGCCAGAAGAG||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||false|false||false|false|||false|false|false||false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|||false|false||false||false||false|false|false||false|||false||]
 chr1	1550992	exm3957	C	A	.	PASS	FUNCOTATION=[MIB2|hg19|chr1|1550992|1550992|NONSENSE||SNP|C|C|A|g.chr1:1550992C>A|ENST00000505820.2|+|1|170|c.153C>A|c.(151-153)tgC>tgA|p.C51*|0.7630922693266833|TGGCGCGATGCGGGCCGTCCT|MIB2_ENST00000520777.1_NONSENSE_p.C51*/MIB2_ENST00000355826.5_NONSENSE_p.C51*/MIB2_ENST00000518681.1_NONSENSE_p.C51*/MIB2_ENST00000357210.4_FIVE_PRIME_UTR/MIB2_ENST00000360522.4_FIVE_PRIME_UTR/MIB2_ENST00000378710.3_FIVE_PRIME_UTR/MIB2_ENST00000378708.1_FIVE_PRIME_FLANK/MIB2_ENST00000378712.1_FIVE_PRIME_FLANK/MIB2_ENST00000504599.1_FIVE_PRIME_FLANK/RP11-345P4.9_ENST00000607222.1_RNA|||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||true|false||false|false|||false|false|false|MIB2:142678|false|true|false|false|false|false|false|false|false|false|false|false|true|false|false|false|false|false|true|true|199741261|1550992|false|false|0|true|0|false|0.998798_%2C_0.00120201|false|false|false|SNV|true|0x050100020605040402000100|1|false|137|rs199741261]
 chr1	1560103	rs28635343	C	T	.	PASS	FUNCOTATION=[MIB2|hg19|chr1|1560103|1560103|INTRON||SNP|C|C|T|g.chr1:1560103C>T|ENST00000505820.2|+|||c.e5-72C>T|||0.6433915211970075|CTGCATCGCTCTCCCAAGTGG|MIB2_ENST00000520777.1_INTRON/MIB2_ENST00000504599.1_INTRON/MIB2_ENST00000355826.5_INTRON/MIB2_ENST00000378708.1_INTRON/MIB2_ENST00000518681.1_INTRON/MIB2_ENST00000378712.1_INTRON/MIB2_ENST00000357210.4_INTRON/MIB2_ENST00000360522.4_INTRON/MIB2_ENST00000378710.3_INTRON/MIB2_ENST00000512004.1_INTRON|||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||true|false|0.7596_%2C_0.2404|false|false|1||false|true|true|MIB2:142678|true|true|true|true|true|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|28635343|1560103|false|false|0|true|0|false|0.816265_%2C_0.183735|false|false|false|SNV|true|0x050100080005170536000100|1|false|125|rs28635343]
-chr1	1562786	exm2250001	C	T	.	PASS	FUNCOTATION=[MIB2|hg19|chr1|1562786|1562786|SILENT||SNP|C|C|T|g.chr1:1562786C>T|ENST00000505820.2|+|12|1847|c.1830C>T|c.(1828-1830)gaC>gaT|p.D610D|0.71571072319202|ACCTGCCGGACGACGAGGGCA|MIB2_ENST00000520777.1_SILENT_p.D606D/MIB2_ENST00000504599.1_SILENT_p.D509D/MIB2_ENST00000355826.5_SILENT_p.D596D/MIB2_ENST00000378708.1_SILENT_p.D459D/MIB2_ENST00000518681.1_SILENT_p.D545D/MIB2_ENST00000378712.1_SILENT_p.D430D/MIB2_ENST00000357210.4_SILENT_p.D553D/MIB2_ENST00000360522.4_SILENT_p.D518D/MIB2_ENST00000378710.3_SILENT_p.D517D|||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||true|false|0.992_%2C_0.007987|false|false|1||false|false|false|MIB2:142678|false|true|false|true|true|false|false|false|false|false|false|false|false|false|false|false|false|false|false|true|75855249|1562786|false|true|0|true|0|true|0.981249_%2C_0.0187513|false|false|false|SNV|true|0x050300000305040436000100|1|false|131|rs75855249]
-chr1	1565032	exm4160	G	A	.	PASS	FUNCOTATION=[MIB2|hg19|chr1|1565032|1565032|SILENT||SNP|G|G|A|g.chr1:1565032G>A|ENST00000505820.2|+|19|2939|c.2922G>A|c.(2920-2922)agG>agA|p.R974R|0.713216957605985|GCGCGCGCAGGATGAAGAAGT|MIB2_ENST00000520777.1_SILENT_p.R970R/MIB2_ENST00000504599.1_SILENT_p.R873R/MIB2_ENST00000355826.5_SILENT_p.R960R/MIB2_ENST00000378708.1_SILENT_p.R823R/MIB2_ENST00000378712.1_MISSENSE_p.D734N/MIB2_ENST00000518681.1_SILENT_p.R909R/MIB2_ENST00000357210.4_SILENT_p.R917R/MIB2_ENST00000360522.4_SILENT_p.R882R/MIB2_ENST00000378710.3_SILENT_p.R881R|||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||true|false|0.9996_%2C_0.0003994|false|false|0||false|false|false|MIB2:142678|false|true|false|false|true|false|false|false|false|false|false|true|false|false|false|false|false|false|false|true|200777664|1565032|false|false|0|false|0|true|0.99945_%2C_0.000549526|false|false|false|SNV|true|0x050000000b05040426000100|1|false|137|rs200777664]
-chr1	1566160	rs28464684	T	C	.	PASS	FUNCOTATION=[Unknown|hg19|chr1|1566160|1566160|IGR||SNP|T|T|C|g.chr1:1566160T>C|no_transcript|||||||0.743142144638404|AGGACACCCTTCAGGCGCGGG||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||false|false||false|false|||false|false|false||false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|||false|false||false||false||false|false|false||false|||false||]
+chr1	1562786	exm2250001	C	T	.	PASS	FUNCOTATION=[MIB2|hg19|chr1|1562786|1562786|SILENT||SNP|C|C|T|g.chr1:1562786C>T|ENST00000505820.2|+|12|1847|c.1830C>T|c.(1828-1830)gaC>gaT|p.D610D|0.71571072319202|ACCTGCCGGACGACGAGGGCA|MIB2_ENST00000520777.1_SILENT_p.D606D/MIB2_ENST00000504599.1_SILENT_p.D509D/MIB2_ENST00000355826.5_SILENT_p.D596D/MIB2_ENST00000378708.1_SILENT_p.D459D/MIB2_ENST00000518681.1_SILENT_p.D545D/MIB2_ENST00000378712.1_SILENT_p.D430D/MIB2_ENST00000357210.4_SILENT_p.D553D/MIB2_ENST00000360522.4_SILENT_p.D518D/MIB2_ENST00000378710.3_SILENT_p.D517D/MMP23B_ENST00000356026.5_FIVE_PRIME_FLANK/MMP23B_ENST00000378675.3_FIVE_PRIME_FLANK|||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||true|false|0.992_%2C_0.007987|false|false|1||false|false|false|MIB2:142678|false|true|false|true|true|false|false|false|false|false|false|false|false|false|false|false|false|false|false|true|75855249|1562786|false|true|0|true|0|true|0.981249_%2C_0.0187513|false|false|false|SNV|true|0x050300000305040436000100|1|false|131|rs75855249]
+chr1	1565032	exm4160	G	A	.	PASS	FUNCOTATION=[MIB2|hg19|chr1|1565032|1565032|SILENT||SNP|G|G|A|g.chr1:1565032G>A|ENST00000505820.2|+|19|2939|c.2922G>A|c.(2920-2922)agG>agA|p.R974R|0.713216957605985|GCGCGCGCAGGATGAAGAAGT|MIB2_ENST00000520777.1_SILENT_p.R970R/MIB2_ENST00000504599.1_SILENT_p.R873R/MIB2_ENST00000355826.5_SILENT_p.R960R/MIB2_ENST00000378708.1_SILENT_p.R823R/MIB2_ENST00000378712.1_MISSENSE_p.D734N/MIB2_ENST00000518681.1_SILENT_p.R909R/MIB2_ENST00000357210.4_SILENT_p.R917R/MIB2_ENST00000360522.4_SILENT_p.R882R/MIB2_ENST00000378710.3_SILENT_p.R881R/MMP23B_ENST00000356026.5_FIVE_PRIME_FLANK/MMP23B_ENST00000378675.3_FIVE_PRIME_FLANK|||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||true|false|0.9996_%2C_0.0003994|false|false|0||false|false|false|MIB2:142678|false|true|false|false|true|false|false|false|false|false|false|true|false|false|false|false|false|false|false|true|200777664|1565032|false|false|0|false|0|true|0.99945_%2C_0.000549526|false|false|false|SNV|true|0x050000000b05040426000100|1|false|137|rs200777664]
+chr1	1566160	rs28464684	T	C	.	PASS	FUNCOTATION=[MMP23B|hg19|chr1|1566160|1566160|FIVE_PRIME_FLANK||SNP|T|T|C|g.chr1:1566160T>C|ENST00000356026.5|+||||||0.743142144638404|AGGACACCCTTCAGGCGCGGG|MMP23B_ENST00000378675.3_FIVE_PRIME_FLANK|||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||false|false||false|false|||false|false|false||false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|||false|false||false||false||false|false|false||false|||false||]
 chr1	1572310	exm2250017	C	T	.	PASS	FUNCOTATION=[CDK11B|hg19|chr1|1572310|1572310|SILENT||SNP|C|C|T|g.chr1:1572310C>T|ENST00000407249.3|-|17|1758|c.1758G>A|c.(1756-1758)ccG>ccA|p.P586P|0.655860349127182|TCACCACGACCGGGGTGTAGG|CDK11B_ENST00000317673.7_SILENT_p.P584P/CDK11B_ENST00000340677.5_SILENT_p.P573P/CDK11B_ENST00000341832.6_SILENT_p.P539P|||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||false|false||false|false|||false|false|false||false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|||false|false||false||false||false|false|false||false|||false||]
-chr1	1601104	exm4292	G	A	.	PASS	FUNCOTATION=[SLC35E2B|hg19|chr1|1601104|1601104|SPLICE_SITE|MISSENSE|SNP|G|G|A|g.chr1:1601104G>A|ENST00000378662.1|-|8|1594|c.833C>T|c.(832-834)aCg>aTg|p.T278M|0.6109725685785536|GAAACCCACCGTAAAGAAAAC|SLC35E2B_ENST00000234800.6_SPLICE_SITE_p.T278M|||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||false|false||false|false|||false|false|false||false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|||false|false||false||false||false|false|false||false|||false||]
-chr1	1601537	variant.241	G	A	.	PASS	FUNCOTATION=[SLC35E2B|hg19|chr1|1601537|1601537|SPLICE_SITE|MISSENSE|SNP|G|G|A|g.chr1:1601537G>A|ENST00000378662.1|-|7|1522|c.761C>T|c.(760-762)tCg>tTg|p.S254L|0.5112219451371571|TAATACTTACGAGAACCTGTA|SLC35E2B_ENST00000234800.6_SPLICE_SITE_p.S254L|||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||false|false||false|false|||false|false|false||false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|||false|false||false||false||false|false|false||false|||false||]
+chr1	1601104	exm4292	G	A	.	PASS	FUNCOTATION=[SLC35E2B|hg19|chr1|1601104|1601104|SPLICE_SITE|MISSENSE|SNP|G|G|A|g.chr1:1601104G>A|ENST00000378662.1|-|8|1594|c.833C>T|c.(832-834)aCg>aTg|p.T278M|0.6109725685785536|GAAACCCACCGTAAAGAAAAC|SLC35E2B_ENST00000234800.6_SPLICE_SITE_p.T278M/RP11-345P4.7_ENST00000596308.1_FIVE_PRIME_FLANK|||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||false|false||false|false|||false|false|false||false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|||false|false||false||false||false|false|false||false|||false||]
+chr1	1601537	variant.241	G	A	.	PASS	FUNCOTATION=[SLC35E2B|hg19|chr1|1601537|1601537|SPLICE_SITE|MISSENSE|SNP|G|G|A|g.chr1:1601537G>A|ENST00000378662.1|-|7|1522|c.761C>T|c.(760-762)tCg>tTg|p.S254L|0.5112219451371571|TAATACTTACGAGAACCTGTA|SLC35E2B_ENST00000234800.6_SPLICE_SITE_p.S254L/RP11-345P4.7_ENST00000596308.1_FIVE_PRIME_FLANK|||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||false|false||false|false|||false|false|false||false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|||false|false||false||false||false|false|false||false|||false||]
 chr1	1611995	exm2264793	A	G	.	PASS	FUNCOTATION=[SLC35E2B|hg19|chr1|1611995|1611995|INTRON||SNP|A|A|G|g.chr1:1611995A>G|ENST00000378662.1|-|||c.e3+3710T>C|||0.6209476309226932|AGCCAACGTCACACCGACCTG|SLC35E2B_ENST00000234800.6_INTRON|||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||false|false||false|false|||false|false|false||false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|||false|false||false||false||false|false|false||false|||false||]
 chr1	1647686	rs909823	A	C	.	PASS	FUNCOTATION=[CDK11A|hg19|chr1|1647686|1647686|INTRON||SNP|A|A|C|g.chr1:1647686A>C|ENST00000358779.5|-|||c.e5-99T>G|||0.5037406483790524|CACTTCTGCAACAAATGTGAC|CDK11A_ENST00000356200.3_INTRON/CDK11A_ENST00000378633.1_INTRON/CDK11A_ENST00000404249.3_INTRON/CDK11A_ENST00000357760.2_INTRON/CDK11A_ENST00000378638.2_INTRON/CDK11A_ENST00000378635.3_INTRON/RP1-283E3.8_ENST00000598846.1_RNA|||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||true|false|0.248_%2C_0.752|false|false|1||false|true|true|CDK11A:728642|true|true|true|true|true|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|909823|1647686|false|false|0|true|0|false||false|false|false|SNV|true|0x05010008000517053f000100|1|false|86|rs909823]
 chr1	1647780	var_1_1647780	C	T	.	PASS	FUNCOTATION=[CDK11A|hg19|chr1|1647780|1647780|INTRON||SNP|C|C|T|g.chr1:1647780C>T|ENST00000358779.5|-|||c.e5-5G>A|||0.47880299251870323|ACCCAGCCCACTCACCTTTCT|CDK11A_ENST00000356200.3_INTRON/CDK11A_ENST00000378633.1_INTRON/CDK11A_ENST00000404249.3_INTRON/CDK11A_ENST00000357760.2_INTRON/CDK11A_ENST00000378638.2_INTRON/CDK11A_ENST00000378635.3_INTRON/RP1-283E3.8_ENST00000598846.1_RNA|||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||true|false|0.9998_%2C_0.0001997|false|false|0||false|false|false|CDK11A:728642|false|true|true|false|true|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|370303160|1647780|false|false|0|false|0|false||false|false|false|SNV|true|0x050000080005040426000100|1|false|138|rs370303160]
@@ -483,7 +483,7 @@ chr1	1776269	rs4648727	C	A	.	PASS	FUNCOTATION=[GNB1|hg19|chr1|1776269|1776269|IN
 chr1	1804302	rs3855951	C	T	.	PASS	FUNCOTATION=[GNB1|hg19|chr1|1804302|1804302|INTRON||SNP|C|C|T|g.chr1:1804302C>T|ENST00000378609.4|-|||c.e1-17957G>A|||0.456359102244389|AAAGTAAGTACTTGGTAAATA|GNB1_ENST00000472614.2_INTRON|||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||false|false||false|false|||false|false|false||false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|||false|false||false||false||false|false|false||false|||false||]
 chr1	1810090	rs7525092	C	T	.	PASS	FUNCOTATION=[GNB1|hg19|chr1|1810090|1810090|INTRON||SNP|C|C|T|g.chr1:1810090C>T|ENST00000378609.4|-|||c.e1-12169G>A|||0.5037406483790524|CTCACCAAGGCAAGTTGGCAT|GNB1_ENST00000472614.2_INTRON|||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||false|false||false|false|||false|false|false||false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|||false|false||false||false||false|false|false||false|||false||]
 chr1	1812521	rs6603802	C	T	.	PASS	FUNCOTATION=[GNB1|hg19|chr1|1812521|1812521|INTRON||SNP|C|C|T|g.chr1:1812521C>T|ENST00000378609.4|-|||c.e1-9738G>A|||0.5037406483790524|TAAGGCCTGCCGTACCCTCGA|GNB1_ENST00000472614.2_INTRON|||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||false|false||false|false|||false|false|false||false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|||false|false||false||false||false|false|false||false|||false||]
-chr1	1818129	rs16824526	A	C	.	PASS	FUNCOTATION=[GNB1|hg19|chr1|1818129|1818129|INTRON||SNP|A|A|C|g.chr1:1818129A>C|ENST00000378609.4|-|||c.e1-4130T>G|||0.4239401496259352|ATCAGAATGTAAACCAGTTTA|GNB1_ENST00000472614.2_INTRON|||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||false|false||false|false|||false|false|false||false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|||false|false||false||false||false|false|false||false|||false||]
+chr1	1818129	rs16824526	A	C	.	PASS	FUNCOTATION=[GNB1|hg19|chr1|1818129|1818129|INTRON||SNP|A|A|C|g.chr1:1818129A>C|ENST00000378609.4|-|||c.e1-4130T>G|||0.4239401496259352|ATCAGAATGTAAACCAGTTTA|GNB1_ENST00000472614.2_INTRON/RP1-140A9.1_ENST00000412228.1_FIVE_PRIME_FLANK|||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||false|false||false|false|||false|false|false||false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|||false|false||false||false||false|false|false||false|||false||]
 chr1	1846765	rs2247560	G	A	.	PASS	FUNCOTATION=[CALML6|hg19|chr1|1846765|1846765|INTRON||SNP|G|G|A|g.chr1:1846765G>A|ENST00000307786.3|+|||c.e1+19G>A|||0.5985037406483791|TGACAGCATGGGACCAGGGTC|CALML6_ENST00000462293.1_FIVE_PRIME_FLANK|||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||false|false||false|false|||false|false|false||false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|||false|false||false||false||false|false|false||false|||false||]
 chr1	1847531	rs28710181	C	T	.	PASS	FUNCOTATION=[CALML6|hg19|chr1|1847531|1847531|INTRON||SNP|C|C|T|g.chr1:1847531C>T|ENST00000307786.3|+|||c.e3-349C>T|||0.6733167082294265|CTCCTCCCCACCCTGCTCTCG|CALML6_ENST00000462293.1_INTRON|||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||false|false||false|false|||false|false|false||false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|||false|false||false||false||false|false|false||false|||false||]
 chr1	1852484	rs28508199	A	G	.	PASS	FUNCOTATION=[TMEM52|hg19|chr1|1852484|1852484|FIVE_PRIME_FLANK||SNP|A|A|G|g.chr1:1852484A>G|ENST00000310991.3|-||||||0.6408977556109726|CCCATTGGACAGAAATCCTGC|TMEM52_ENST00000378602.3_FIVE_PRIME_FLANK|||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||false|false||false|false|||false|false|false||false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|||false|false||false||false||false|false|false||false|||false||]
@@ -575,7 +575,7 @@ chr1	2135002	chr1_2135002	C	T	.	PASS	FUNCOTATION=[C1orf86|hg19|chr1|2135002|2135
 chr1	2135002	chr1_2135002	C	T	.	PASS	FUNCOTATION=[C1orf86|hg19|chr1|2135002|2135002|FIVE_PRIME_FLANK||SNP|C|C|T|g.chr1:2135002C>T|ENST00000378545.3|-||||||0.6533665835411472|GTGCCCCTCACCTGGGGTGGA|C1orf86_ENST00000487186.1_SPLICE_SITE|||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||false|false||false|false|||false|false|false||false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|||false|false||false||false||false|false|false||false|||false||]
 chr1	2143168	psy_rs171904	A	G	.	PASS	FUNCOTATION=[C1orf86|hg19|chr1|2143168|2143168|INTRON||SNP|A|A|G|g.chr1:2143168A>G|ENST00000487186.1|-|||c.e2-643T>C|||0.5411471321695761|GATTACAGGCATGAGCCACCG|RP11-181G12.4_ENST00000442483.2_FIVE_PRIME_FLANK|||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||false|false||false|false|||false|false|false||false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|||false|false||false||false||false|false|false||false|||false||]
 chr1	2143491	psy_rs143314458	G	A	.	PASS	FUNCOTATION=[AL590822.1|hg19|chr1|2143491|2143491|THREE_PRIME_UTR||SNP|G|G|A|g.chr1:2143491G>A|ENST00000545087.1|-|1|||||0.571072319201995|ACAGGCGCCCGCCACCACGCC|C1orf86_ENST00000487186.1_INTRON/RP11-181G12.4_ENST00000442483.2_FIVE_PRIME_FLANK|||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||false|false||false|false|||false|false|false||false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|||false|false||false||false||false|false|false||false|||false||]
-chr1	2146966	rs7512482	T	C	.	PASS	FUNCOTATION=[C1orf86|hg19|chr1|2146966|2146966|FIVE_PRIME_FLANK||SNP|T|T|C|g.chr1:2146966T>C|ENST00000487186.1|-||||||0.6758104738154613|AGGACCTGCGTGAAGGAGCCC|AL590822.1_ENST00000545087.1_FIVE_PRIME_FLANK/RP11-181G12.4_ENST00000442483.2_LINCRNA|||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||true|false|0.7963_%2C_0.2037|false|false|1||false|true|true||true|true|false|true|true|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|7512482|2146966|false|false|0|true|0|false|0.761969_%2C_0.238031|false|false|false|SNV|true|0x05010000000517053f000100|1|false|116|rs7512482]
+chr1	2146966	rs7512482	T	C	.	PASS	FUNCOTATION=[C1orf86|hg19|chr1|2146966|2146966|FIVE_PRIME_FLANK||SNP|T|T|C|g.chr1:2146966T>C|ENST00000487186.1|-||||||0.6758104738154613|AGGACCTGCGTGAAGGAGCCC|AL590822.1_ENST00000545087.1_FIVE_PRIME_FLANK/RP11-181G12.4_ENST00000442483.2_LINCRNA/RP11-181G12.5_ENST00000420964.1_FIVE_PRIME_FLANK|||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||true|false|0.7963_%2C_0.2037|false|false|1||false|true|true||true|true|false|true|true|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|7512482|2146966|false|false|0|true|0|false|0.761969_%2C_0.238031|false|false|false|SNV|true|0x05010000000517053f000100|1|false|116|rs7512482]
 chr1	2156362	rs2460000	A	G	.	PASS	FUNCOTATION=[SKI|hg19|chr1|2156362|2156362|FIVE_PRIME_FLANK||SNP|A|A|G|g.chr1:2156362A>G|ENST00000378536.4|+||||||0.6408977556109726|CAAGCTCAGGAAGAAAAGTGG||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||false|false||false|false|||false|false|false||false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|||false|false||false||false||false|false|false||false|||false||]
 chr1	2173504	rs263526	T	C	.	PASS	FUNCOTATION=[SKI|hg19|chr1|2173504|2173504|INTRON||SNP|T|T|C|g.chr1:2173504T>C|ENST00000378536.4|+|||c.e1+12330T>C|||0.571072319201995|CAATATCTTGTTGGGAGGCAG||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||false|false||false|false|||false|false|false||false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|||false|false||false||false||false|false|false||false|||false||]
 chr1	2173811	psy_rs55781948	C	T	.	PASS	FUNCOTATION=[SKI|hg19|chr1|2173811|2173811|INTRON||SNP|C|C|T|g.chr1:2173811C>T|ENST00000378536.4|+|||c.e1+12637C>T|||0.516209476309227|TGTTTGTTCACGTCAGGGGAG||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||false|false||false|false|||false|false|false||false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|||false|false||false||false||false|false|false||false|||false||]
@@ -590,7 +590,7 @@ chr1	2220649	rs2017143	C	T	.	PASS	FUNCOTATION=[SKI|hg19|chr1|2220649|2220649|INT
 chr1	2223866	rs884940	C	T	.	PASS	FUNCOTATION=[SKI|hg19|chr1|2223866|2223866|INTRON||SNP|C|C|T|g.chr1:2223866C>T|ENST00000378536.4|+|||c.e2-10551C>T|||0.6209476309226932|ATCTAGCAGACGTTCATCAGG|SKI_ENST00000478223.2_INTRON|||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||false|false||false|false|||false|false|false||false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|||false|false||false||false||false|false|false||false|||false||]
 chr1	2242298	psy_rs146894003	G	A	.	PASS	FUNCOTATION=[Unknown|hg19|chr1|2242298|2242298|IGR||SNP|G|G|A|g.chr1:2242298G>A|no_transcript|||||||0.6533665835411472|GTGCCATGCCGCATGCCAATT||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||false|false||false|false|||false|false|false||false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|||false|false||false||false||false|false|false||false|||false||]
 chr1	2254910	psy_rs2645075	T	C	.	PASS	FUNCOTATION=[MORN1|hg19|chr1|2254910|2254910|INTRON||SNP|T|T|C|g.chr1:2254910T>C|ENST00000378531.3|-|||c.e13-626A>G|||0.6683291770573566|TCAGCCGCGGTGCCCAGGTCC|AL589739.1_ENST00000600779.1_FIVE_PRIME_FLANK|||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||true|false|0.1851_%2C_0.8149|false|false|1||false|true|false|MORN1:79906|true|true|true|true|true|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|2645075|2254910|true|false|0|true|0|false|0.184606_%2C_0.815394|false|false|false|SNV|true|0x05010008000515053f000100|1|false|100|rs2645075]
-chr1	2261222	rs2645065	C	A	.	PASS	FUNCOTATION=[MORN1|hg19|chr1|2261222|2261222|INTRON||SNP|C|C|A|g.chr1:2261222C>A|ENST00000378531.3|-|||c.e13+5640G>T|||0.6633416458852868|AGATAGTGTTCCCCAAGGCCC||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||true|false|0.9062_%2C_0.09385_%2C_.|false|false|1||false|true|false|MORN1:79906|true|true|true|true|true|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|2645065|2261222|false|false|0|true|0|false|0.878975_%2C_0.121025_%2C_.|false|false|false|SNV|true|0x05010008000515053f000100|1|false|100|rs2645065]
+chr1	2261222	rs2645065	C	A	.	PASS	FUNCOTATION=[MORN1|hg19|chr1|2261222|2261222|INTRON||SNP|C|C|A|g.chr1:2261222C>A|ENST00000378531.3|-|||c.e13+5640G>T|||0.6633416458852868|AGATAGTGTTCCCCAAGGCCC|RP4-713A8.1_ENST00000607720.1_FIVE_PRIME_FLANK|||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||true|false|0.9062_%2C_0.09385_%2C_.|false|false|1||false|true|false|MORN1:79906|true|true|true|true|true|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|2645065|2261222|false|false|0|true|0|false|0.878975_%2C_0.121025_%2C_.|false|false|false|SNV|true|0x05010008000515053f000100|1|false|100|rs2645065]
 chr1	2263888	rs903904	C	T	.	PASS	FUNCOTATION=[MORN1|hg19|chr1|2263888|2263888|INTRON||SNP|C|C|T|g.chr1:2263888C>T|ENST00000378531.3|-|||c.e12-4020G>A|||0.6433915211970075|GATGGGCGACCCCTGGCCCCG|MORN1_ENST00000606372.1_INTRON|||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||true|false|0.8397_%2C_0.1603|false|false|1||false|true|false|MORN1:79906|true|true|true|true|true|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|903904|2263888|false|false|0|true|0|false|0.833665_%2C_0.166335|false|false|false|SNV|true|0x05010008000515053f000101|1|false|86|rs903904]
 chr1	2268156	exm5460	C	G	.	PASS	FUNCOTATION=[MORN1|hg19|chr1|2268156|2268156|SPLICE_SITE|MISSENSE|SNP|C|C|G|g.chr1:2268156C>G|ENST00000378531.3|-|11|1344|c.1170G>C|c.(1168-1170)aaG>aaC|p.K390N|0.655860349127182|GGGCACCCACCTTGTGGAGGC|MORN1_ENST00000606372.1_SPLICE_SITE|||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||true|false||false|false|||false|false|false|MORN1:79906|false|true|false|false|false|false|false|false|false|false|false|true|false|false|false|false|false|false|false|true|561543765|2268156|false|false|0|false|0|false||false|false|false|SNV|false|0x050000000a05000402000100|1|false|142|rs561543765]
 chr1	2280661	rs2055204	G	A	.	PASS	FUNCOTATION=[MORN1|hg19|chr1|2280661|2280661|INTRON||SNP|G|G|A|g.chr1:2280661G>A|ENST00000378531.3|-|||c.e10-8210C>T|||0.6084788029925187|CCTCAGAGAAGAGAAAAGGAC|MORN1_ENST00000606372.1_INTRON|||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||true|false|0.5178_%2C_0.4822|false|false|1||false|true|true|MORN1:79906|true|true|true|true|true|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|2055204|2280661|false|false|0|true|0|false|0.608455_%2C_0.391545|false|false|false|SNV|true|0x05010008000517053f000101|1|false|94|rs2055204]
@@ -635,7 +635,7 @@ chr1	2440415	exm2250954	G	A	.	PASS	FUNCOTATION=[PANK4|hg19|chr1|2440415|2440415|
 chr1	2440415	exm5910	G	A	.	PASS	FUNCOTATION=[PANK4|hg19|chr1|2440415|2440415|SILENT||SNP|G|G|A|g.chr1:2440415G>A|ENST00000378466.3|-|19|2206|c.2193C>T|c.(2191-2193)caC>caT|p.H731H|0.6234413965087282|GGTAGTTTGTGTGGACAGCAC|PANK4_ENST00000435556.3_SILENT_p.H692H|||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||true|false|0.9996_%2C_0.0003994|false|false|0||false|false|false|PANK4:55229|false|true|false|false|true|false|false|false|false|false|false|false|false|false|false|false|false|false|false|true|141941464|2440415|false|true|0|true|0|true|0.998523_%2C_0.00147675|false|false|false|SNV|true|0x050300000305040426000100|1|false|134|rs141941464]
 chr1	2450733	indel.338	AG	A	.	PASS	FUNCOTATION=[PANK4|hg19|chr1|2450734|2450734|FRAME_SHIFT_DEL||DEL|G|G|-|g.chr1:2450734delG|ENST00000378466.3|-|7|897|c.883delC|c.(883-885)ctgfs|p.L295fs|0.6059850374064838|ATGTGCAGCAGGCTCTTCGCC|PANK4_ENST00000435556.3_FRAME_SHIFT_DEL_p.L256fs|||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||true|false||false|false|||false|false|false|PANK4:55229|false|true|false|false|false|false|false|false|false|false|true|false|false|false|false|false|false|false|false|true|764053138|2450734|false|false|0|false|0|false||false|false|false|DIV|false|0x050000001205000402000200|1|false|144|rs764053138]
 chr1	2461316	exm2250972	C	T	.	PASS	FUNCOTATION=[HES5|hg19|chr1|2461316|2461316|SILENT||SNP|C|C|T|g.chr1:2461316C>T|ENST00000378453.3|-|2|270|c.189G>A|c.(187-189)gaG>gaA|p.E63E|0.7231920199501247|TGACAGCCATCTCCAGGATGT|PANK4_ENST00000378466.3_FIVE_PRIME_FLANK/PANK4_ENST00000435556.3_FIVE_PRIME_FLANK/PANK4_ENST00000491212.1_FIVE_PRIME_FLANK|||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||false|false||false|false|||false|false|false||false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|||false|false||false||false||false|false|false||false|||false||]
-chr1	2493130	exm2251018	G	A	.	PASS	FUNCOTATION=[TNFRSF14|hg19|chr1|2493130|2493130|SILENT||SNP|G|G|A|g.chr1:2493130G>A|ENST00000355716.4|+|6|869|c.570G>A|c.(568-570)acG>acA|p.T190T|0.6234413965087282|GGCTGGTGACGAAGGCCGGAG|TNFRSF14_ENST00000409119.1_THREE_PRIME_UTR|||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||false|false||false|false|||false|false|false||false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|||false|false||false||false||false|false|false||false|||false||]
+chr1	2493130	exm2251018	G	A	.	PASS	FUNCOTATION=[TNFRSF14|hg19|chr1|2493130|2493130|SILENT||SNP|G|G|A|g.chr1:2493130G>A|ENST00000355716.4|+|6|869|c.570G>A|c.(568-570)acG>acA|p.T190T|0.6234413965087282|GGCTGGTGACGAAGGCCGGAG|TNFRSF14_ENST00000409119.1_THREE_PRIME_UTR/RP3-395M20.8_ENST00000416860.2_FIVE_PRIME_FLANK/RP3-395M20.8_ENST00000452793.1_FIVE_PRIME_FLANK/RP3-395M20.7_ENST00000456687.3_FIVE_PRIME_FLANK|||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||false|false||false|false|||false|false|false||false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|||false|false||false||false||false|false|false||false|||false||]
 chr1	2513216	exm-rs734999	C	T	.	PASS	FUNCOTATION=[FAM213B|hg19|chr1|2513216|2513216|FIVE_PRIME_FLANK||SNP|C|C|T|g.chr1:2513216C>T|ENST00000419916.2|+||||||0.48877805486284287|AAGAAAAGCACAACAGAGAAC|RP3-395M20.9_ENST00000424215.1_RNA|||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||false|false||false|false|||false|false|false||false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|||false|false||false||false||false|false|false||false|||false||]
 chr1	2519989	exm6175	G	T	.	PASS	FUNCOTATION=[FAM213B|hg19|chr1|2519989|2519989|SPLICE_SITE|MISSENSE|SNP|G|G|T|g.chr1:2519989G>T|ENST00000378424.4|+|5|545|c.529G>T|c.(529-531)Gcc>Tcc|p.A177S|0.6359102244389028|CTCCTGACAGGCCAAGGCTGT|FAM213B_ENST00000419916.2_SPLICE_SITE_p.A159S/FAM213B_ENST00000378425.5_SPLICE_SITE_p.A129S/FAM213B_ENST00000444521.2_SPLICE_SITE_p.A147S/FAM213B_ENST00000537325.1_INTRON/FAM213B_ENST00000484099.1_INTRON|||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||false|false||false|false|||false|false|false||false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|||false|false||false||false||false|false|false||false|||false||]
 chr1	2526245	exm6253	T	A	.	PASS	FUNCOTATION=[MMEL1|hg19|chr1|2526245|2526245|NONSENSE||SNP|T|T|A|g.chr1:2526245T>A|ENST00000378412.3|-|17|1834|c.1672A>T|c.(1672-1674)Aag>Tag|p.K558*|0.6483790523690773|GGGTCCACCTTTTCCCGAAGC|MMEL1_ENST00000502556.1_NONSENSE_p.K401*/MMEL1_ENST00000288709.6_NONSENSE_p.K549*|||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||true|false||false|false|||false|false|false|MMEL1:79258|false|true|false|false|false|false|false|false|false|false|false|false|true|false|false|false|false|false|false|true|200758088|2526245|false|true|0|false|0|false|0.999966_%2C_3.4343e-005|false|false|false|SNV|true|0x050200000605040402000100|1|false|137|rs200758088]
@@ -685,9 +685,9 @@ chr1	3673329	newrs150537276	G	T	.	PASS	FUNCOTATION=[CCDC27|hg19|chr1|3673329|367
 chr1	3677854	exm2251521	C	T	.	PASS	FUNCOTATION=[CCDC27|hg19|chr1|3677854|3677854|SILENT||SNP|C|C|T|g.chr1:3677854C>T|ENST00000294600.2|+|5|805|c.721C>T|c.(721-723)Ctg>Ttg|p.L241L|0.5785536159600998|GGATCACTGCCTGTCTGAGCT||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||false|false||false|false|||false|false|false||false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|||false|false||false||false||false|false|false||false|||false||]
 chr1	3679252	exm2251522	G	A	.	PASS	FUNCOTATION=[CCDC27|hg19|chr1|3679252|3679252|SILENT||SNP|G|G|A|g.chr1:3679252G>A|ENST00000294600.2|+|6|1014|c.930G>A|c.(928-930)gaG>gaA|p.E310E|0.6658354114713217|CCAGACATGAGGAGGAGCTGC||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||false|false||false|false|||false|false|false||false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|||false|false||false||false||false|false|false||false|||false||]
 chr1	3680362	exm7600	C	T	.	PASS	FUNCOTATION=[CCDC27|hg19|chr1|3680362|3680362|NONSENSE||SNP|C|C|T|g.chr1:3680362C>T|ENST00000294600.2|+|8|1498|c.1414C>T|c.(1414-1416)Cga>Tga|p.R472*|0.6259351620947631|GAAGGAGCTCCGAGAGCGGAG||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||false|false||false|false|||false|false|false||false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|||false|false||false||false||false|false|false||false|||false||]
-chr1	3686357	variant.429	T	G	.	PASS	FUNCOTATION=[CCDC27|hg19|chr1|3686357|3686357|NONSENSE||SNP|T|T|G|g.chr1:3686357T>G|ENST00000294600.2|+|11|1838|c.1754T>G|c.(1753-1755)tTa>tGa|p.L585*|0.5386533665835411|CTCGAGAGGTTAAGGAATAAG||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||false|false||false|false|||false|false|false||false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|||false|false||false||false||false|false|false||false|||false||]
-chr1	3696925	psy_rs11547616	C	T	.	PASS	FUNCOTATION=[LRRC47|hg19|chr1|3696925|3696925|THREE_PRIME_UTR||SNP|C|C|T|g.chr1:3696925C>T|ENST00000378251.1|-|7|||||0.4488778054862843|ACACACTGCACGAGAATATTG||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||false|false||false|false|||false|false|false||false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|||false|false||false||false||false|false|false||false|||false||]
-chr1	3698166	var_1_3698166	C	T	.	PASS	FUNCOTATION=[LRRC47|hg19|chr1|3698166|3698166|SPLICE_SITE|INTRON|SNP|C|C|T|g.chr1:3698166C>T|ENST00000378251.1|-|||c.e6+1G>A|c.e6-1||0.4613466334164589|TTTTCTTAACCTTAAAAGAAA||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||false|false||false|false|||false|false|false||false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|||false|false||false||false||false|false|false||false|||false||]
+chr1	3686357	variant.429	T	G	.	PASS	FUNCOTATION=[CCDC27|hg19|chr1|3686357|3686357|NONSENSE||SNP|T|T|G|g.chr1:3686357T>G|ENST00000294600.2|+|11|1838|c.1754T>G|c.(1753-1755)tTa>tGa|p.L585*|0.5386533665835411|CTCGAGAGGTTAAGGAATAAG|SMIM1_ENST00000444870.2_FIVE_PRIME_FLANK/SMIM1_ENST00000561886.1_FIVE_PRIME_FLANK|||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||false|false||false|false|||false|false|false||false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|||false|false||false||false||false|false|false||false|||false||]
+chr1	3696925	psy_rs11547616	C	T	.	PASS	FUNCOTATION=[LRRC47|hg19|chr1|3696925|3696925|THREE_PRIME_UTR||SNP|C|C|T|g.chr1:3696925C>T|ENST00000378251.1|-|7|||||0.4488778054862843|ACACACTGCACGAGAATATTG|RN7SL574P_ENST00000581512.1_FIVE_PRIME_FLANK/RP1-286D6.5_ENST00000607459.1_FIVE_PRIME_FLANK|||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||false|false||false|false|||false|false|false||false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|||false|false||false||false||false|false|false||false|||false||]
+chr1	3698166	var_1_3698166	C	T	.	PASS	FUNCOTATION=[LRRC47|hg19|chr1|3698166|3698166|SPLICE_SITE|INTRON|SNP|C|C|T|g.chr1:3698166C>T|ENST00000378251.1|-|||c.e6+1G>A|c.e6-1||0.4613466334164589|TTTTCTTAACCTTAAAAGAAA|RN7SL574P_ENST00000581512.1_FIVE_PRIME_FLANK/RP1-286D6.5_ENST00000607459.1_FIVE_PRIME_FLANK|||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||false|false||false|false|||false|false|false||false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|||false|false||false||false||false|false|false||false|||false||]
 chr1	3739988	variant.436	G	A	.	PASS	FUNCOTATION=[CEP104|hg19|chr1|3739988|3739988|SPLICE_SITE|MISSENSE|SNP|G|G|A|g.chr1:3739988G>A|ENST00000378230.3|-|19|2828|c.2503C>T|c.(2503-2505)Cct>Tct|p.P835S|0.5411471321695761|GGGCACTCACGGTTGCAATCC||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||false|false||false|false|||false|false|false||false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|||false|false||false||false||false|false|false||false|||false||]
 chr1	3743271	variant.437	C	A	.	PASS	FUNCOTATION=[CEP104|hg19|chr1|3743271|3743271|SPLICE_SITE|INTRON|SNP|C|C|A|g.chr1:3743271C>A|ENST00000378230.3|-|||c.e16-1G>T|c.e16+1||0.46384039900249374|TCTTTACATACCCTGATTCTT||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||false|false||false|false|||false|false|false||false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|||false|false||false||false||false|false|false||false|||false||]
 chr1	3751489	variant.438	G	A	.	PASS	FUNCOTATION=[CEP104|hg19|chr1|3751489|3751489|SPLICE_SITE|SILENT|SNP|G|G|A|g.chr1:3751489G>A|ENST00000378230.3|-|11|1810|c.1485C>T|c.(1483-1485)tcC>tcT|p.S495S|0.48129675810473815|GGGCACTCACGGAGGTCACAA|CEP104_ENST00000460038.1_SPLICE_SITE|||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||false|false||false|false|||false|false|false||false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|||false|false||false||false||false|false|false||false|||false||]
@@ -703,7 +703,7 @@ chr1	3765282	exm2251546	C	T	.	PASS	FUNCOTATION=[CEP104|hg19|chr1|3765282|3765282
 chr1	3765302	chr1_3765302	T	A	.	PASS	FUNCOTATION=[CEP104|hg19|chr1|3765302|3765302|NONSENSE||SNP|T|T|A|g.chr1:3765302T>A|ENST00000378230.3|-|3|482|c.157A>T|c.(157-159)Aga>Tga|p.R53*|0.3790523690773067|ATTCGACATCTCTCCACCATT|CEP104_ENST00000378223.3_NONSENSE_p.R53*|||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||false|false||false|false|||false|false|false||false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|||false|false||false||false||false|false|false||false|||false||]
 chr1	3784549	variant.448	C	T	.	PASS	FUNCOTATION=[DFFB|hg19|chr1|3784549|3784549|NONSENSE||SNP|C|C|T|g.chr1:3784549C>T|ENST00000378209.3|+|4|765|c.442C>T|c.(442-444)Cga>Tga|p.R148*|0.5760598503740648|CTTGGAGTCCCGATTTCAGAG|DFFB_ENST00000338895.3_NONSENSE_p.R148*|||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||true|false|0.9996_%2C_0.0003994|false|false|0||false|false|false|DFFB:1677|false|true|false|false|true|false|false|false|false|false|false|false|true|false|false|false|false|false|false|true|371788433|3784549|false|true|0|false|0|false||false|false|false|SNV|true|0x050200000605040426000100|1|false|138|rs371788433]
 chr1	3789041	indel.451	CT	C	.	PASS	FUNCOTATION=[DFFB|hg19|chr1|3789042|3789042|FRAME_SHIFT_DEL||DEL|T|T|-|g.chr1:3789042delT|ENST00000378209.3|+|6|1010|c.688delT|c.(688-690)tttfs|p.F230fs|0.5885286783042394|CCAGGGTCCCTTTGACATGGA|DFFB_ENST00000338895.3_FRAME_SHIFT_DEL_p.F230fs|||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||true|false||false|false|||false|false|false|DFFB:1677|false|true|false|false|false|false|false|false|false|false|true|false|false|false|false|false|false|false|false|true|755710345|3789042|false|false|0|false|0|false||false|false|false|DIV|true|0x050000001205040402000200|1|false|144|rs755710345]
-chr1	3800158	indel.452	TG	T	.	PASS	FUNCOTATION=[DFFB|hg19|chr1|3800159|3800159|FRAME_SHIFT_DEL||DEL|G|G|-|g.chr1:3800159delG|ENST00000378209.3|+|7|1193|c.871delG|c.(871-873)ggcfs|p.G291fs|0.46384039900249374|GTATTTTTATGGCCTGCTTTT||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||true|false||false|false|||false|false|false|DFFB:1677|false|false|false|false|false|false|false|false|false|false|true|false|false|false|false|false|false|false|false|true|777060714|3800159|false|false|0|false|0|false||false|false|false|DIV|false|0x050000001205000002000200|1|false|144|rs777060714]
+chr1	3800158	indel.452	TG	T	.	PASS	FUNCOTATION=[DFFB|hg19|chr1|3800159|3800159|FRAME_SHIFT_DEL||DEL|G|G|-|g.chr1:3800159delG|ENST00000378209.3|+|7|1193|c.871delG|c.(871-873)ggcfs|p.G291fs|0.46384039900249374|GTATTTTTATGGCCTGCTTTT|AL691523.1_ENST00000579705.1_FIVE_PRIME_FLANK|||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||true|false||false|false|||false|false|false|DFFB:1677|false|false|false|false|false|false|false|false|false|false|true|false|false|false|false|false|false|false|false|true|777060714|3800159|false|false|0|false|0|false||false|false|false|DIV|false|0x050000001205000002000200|1|false|144|rs777060714]
 chr1	3806595	exm8005	G	A	.	PASS	FUNCOTATION=[C1orf174|hg19|chr1|3806595|3806595|NONSENSE||SNP|G|G|A|g.chr1:3806595G>A|ENST00000361605.3|-|4|760|c.661C>T|c.(661-663)Cga>Tga|p.R221*|0.4314214463840399|CTGAACTCTCGTCTGCTCATT|C1orf174_ENST00000486765.1_INTRON|||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||false|false||false|false|||false|false|false||false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|||false|false||false||false||false|false|false||false|||false||]
 chr1	3806595	variant.453	G	A	.	PASS	FUNCOTATION=[C1orf174|hg19|chr1|3806595|3806595|NONSENSE||SNP|G|G|A|g.chr1:3806595G>A|ENST00000361605.3|-|4|760|c.661C>T|c.(661-663)Cga>Tga|p.R221*|0.4314214463840399|CTGAACTCTCGTCTGCTCATT|C1orf174_ENST00000486765.1_INTRON|||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||false|false||false|false|||false|false|false||false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|||false|false||false||false||false|false|false||false|||false||]
 chr1	3807537	variant.455	G	A	.	PASS	FUNCOTATION=[C1orf174|hg19|chr1|3807537|3807537|NONSENSE||SNP|G|G|A|g.chr1:3807537G>A|ENST00000361605.3|-|3|313|c.214C>T|c.(214-216)Cag>Tag|p.Q72*|0.47381546134663344|ACAAGCTTCTGTAATTCTGAC|C1orf174_ENST00000486765.1_INTRON|||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||false|false||false|false|||false|false|false||false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|||false|false||false||false||false|false|false||false|||false||]
@@ -714,9 +714,9 @@ chr1	3825525	rs35383955	C	T	.	PASS	FUNCOTATION=[RP13-15E13.1|hg19|chr1|3825525|3
 chr1	4002498	psy_rs7538691	T	C	.	PASS	FUNCOTATION=[RP13-614K11.1|hg19|chr1|4002498|4002498|LINCRNA||SNP|T|T|C|g.chr1:4002498T>C|ENST00000412674.1|+|||c.e2+1295T>C|||0.456359102244389|ATCCACATGCTGAAGTCCTTA||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||true|false|0.4375_%2C_0.5625|false|false|1||false|true|true|LINC01346:728716|true|true|true|true|true|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|7538691|4002498|false|false|0|true|0|false|0.405969_%2C_0.594031|false|false|false|SNV|true|0x05010008000517053f000100|1|false|116|rs7538691]
 chr1	4005693	rs7524279	G	A	.	PASS	FUNCOTATION=[RP13-614K11.1|hg19|chr1|4005693|4005693|LINCRNA||SNP|G|G|A|g.chr1:4005693G>A|ENST00000412674.1|+|||c.e2+4490G>A|||0.5760598503740648|GACGGGAGGAGAAAATGCTTC||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||true|false|0.6971_%2C_0.3029|false|false|1||false|true|true|LINC01346:728716|true|true|true|true|true|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|7524279|4005693|false|false|0|true|0|false|0.703791_%2C_0.296209|false|false|false|SNV|true|0x05010008000517053f000100|1|false|116|rs7524279]
 chr1	4006060	rs7548668	T	C	.	PASS	FUNCOTATION=[RP13-614K11.1|hg19|chr1|4006060|4006060|LINCRNA||SNP|T|T|C|g.chr1:4006060T>C|ENST00000412674.1|+|||c.e2+4857T>C|||0.6184538653366584|CAGAGCGGCATCTGGTTGCCA||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||true|false|0.5789_%2C_0.4211|false|false|1||false|true|true|LINC01346:728716|true|true|true|true|true|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|7548668|4006060|false|false|0|true|0|false|0.550072_%2C_0.449928|false|false|false|SNV|true|0x05010008000517053f000101|1|false|116|rs7548668]
-chr1	4009071	rs10799181	T	C	.	PASS	FUNCOTATION=[RP13-614K11.1|hg19|chr1|4009071|4009071|LINCRNA||SNP|T|T|C|g.chr1:4009071T>C|ENST00000412674.1|+|||c.e3-3242T>C|||0.5187032418952618|TTGATTTCCTTTCATCCGTCC||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||true|false|0.8125_%2C_0.1875|false|false|1||false|true|true|LINC01346:728716|true|true|true|true|true|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|10799181|4009071|false|false|0|true|0|false|0.796964_%2C_0.203036|false|false|false|SNV|true|0x05010008000517053f000101|1|false|120|rs10799181]
-chr1	4009694	psy_rs4654479	G	A	.	PASS	FUNCOTATION=[RP13-614K11.1|hg19|chr1|4009694|4009694|LINCRNA||SNP|G|G|A|g.chr1:4009694G>A|ENST00000412674.1|+|||c.e3-2619G>A|||0.42643391521197005|AATTATAGATGTGCTTTGATG||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||true|false|0.8255_%2C_0.1745|false|false|1||false|true|true|LINC01346:728716|true|true|true|true|true|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|4654479|4009694|false|false|0|true|0|false|0.824713_%2C_0.175287|false|false|false|SNV|true|0x05010008000517053f000101|1|false|111|rs4654479]
-chr1	4009793	psy_rs4654480	C	T	.	PASS	FUNCOTATION=[RP13-614K11.1|hg19|chr1|4009793|4009793|LINCRNA||SNP|C|C|T|g.chr1:4009793C>T|ENST00000412674.1|+|||c.e3-2520C>T|||0.428927680798005|CTCACAGAGTCGCAGCTTGGT||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||true|false|0.8079_%2C_0.1921|false|false|1||false|true|true|LINC01346:728716|true|true|true|true|true|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|4654480|4009793|false|false|0|true|0|false|0.796552_%2C_0.203448|false|false|false|SNV|true|0x050100080005170537000100|1|false|111|rs4654480]
+chr1	4009071	rs10799181	T	C	.	PASS	FUNCOTATION=[RP13-614K11.1|hg19|chr1|4009071|4009071|LINCRNA||SNP|T|T|C|g.chr1:4009071T>C|ENST00000412674.1|+|||c.e3-3242T>C|||0.5187032418952618|TTGATTTCCTTTCATCCGTCC|RP13-614K11.2_ENST00000425194.1_FIVE_PRIME_FLANK|||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||true|false|0.8125_%2C_0.1875|false|false|1||false|true|true|LINC01346:728716|true|true|true|true|true|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|10799181|4009071|false|false|0|true|0|false|0.796964_%2C_0.203036|false|false|false|SNV|true|0x05010008000517053f000101|1|false|120|rs10799181]
+chr1	4009694	psy_rs4654479	G	A	.	PASS	FUNCOTATION=[RP13-614K11.1|hg19|chr1|4009694|4009694|LINCRNA||SNP|G|G|A|g.chr1:4009694G>A|ENST00000412674.1|+|||c.e3-2619G>A|||0.42643391521197005|AATTATAGATGTGCTTTGATG|RP13-614K11.2_ENST00000425194.1_FIVE_PRIME_FLANK|||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||true|false|0.8255_%2C_0.1745|false|false|1||false|true|true|LINC01346:728716|true|true|true|true|true|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|4654479|4009694|false|false|0|true|0|false|0.824713_%2C_0.175287|false|false|false|SNV|true|0x05010008000517053f000101|1|false|111|rs4654479]
+chr1	4009793	psy_rs4654480	C	T	.	PASS	FUNCOTATION=[RP13-614K11.1|hg19|chr1|4009793|4009793|LINCRNA||SNP|C|C|T|g.chr1:4009793C>T|ENST00000412674.1|+|||c.e3-2520C>T|||0.428927680798005|CTCACAGAGTCGCAGCTTGGT|RP13-614K11.2_ENST00000425194.1_FIVE_PRIME_FLANK|||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||true|false|0.8079_%2C_0.1921|false|false|1||false|true|true|LINC01346:728716|true|true|true|true|true|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|4654480|4009793|false|false|0|true|0|false|0.796552_%2C_0.203448|false|false|false|SNV|true|0x050100080005170537000100|1|false|111|rs4654480]
 chr1	4481215	rs4654432	C	T	.	PASS	FUNCOTATION=[RP5-1166F10.1|hg19|chr1|4481215|4481215|LINCRNA||SNP|C|C|T|g.chr1:4481215C>T|ENST00000423197.1|+|||c.e4-1605C>T|||0.45885286783042395|CTGACCCTTTCGAGGCCAGAT||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||false|false||false|false|||false|false|false||false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|||false|false||false||false||false|false|false||false|||false||]
 chr1	4634978	rs1541318	A	G	.	PASS	FUNCOTATION=[RP1-37J18.2|hg19|chr1|4634978|4634978|LINCRNA||SNP|A|A|G|g.chr1:4634978A>G|ENST00000420522.1|+|||c.e2+2326A>G|||0.3865336658354115|AGATGTAAATATGGACTCATT||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||false|false||false|false|||false|false|false||false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|||false|false||false||false||false|false|false||false|||false||]
 chr1	4636767	rs1157688	T	C	.	PASS	FUNCOTATION=[RP1-37J18.2|hg19|chr1|4636767|4636767|LINCRNA||SNP|T|T|C|g.chr1:4636767T>C|ENST00000420522.1|+|||c.e2+4115T>C|||0.3640897755610973|TCATTTTAAGTTCTGTTCATC||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||false|false||false|false|||false|false|false||false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|||false|false||false||false||false|false|false||false|||false||]
@@ -768,13 +768,13 @@ chr1	6271096	exm8940	C	T	.	PASS	FUNCOTATION=[RNF207|hg19|chr1|6271096|6271096|NO
 chr1	6271178	exm8946	C	T	.	PASS	FUNCOTATION=[RNF207|hg19|chr1|6271178|6271178|SPLICE_SITE|MISSENSE|SNP|C|C|T|g.chr1:6271178C>T|ENST00000377939.4|+|12|1236|c.1109C>T|c.(1108-1110)aCg>aTg|p.T370M|0.6608478802992519|GGTGCTAACACGTGAGCAGCA|RNF207_ENST00000377948.2_INTRON/RNF207_ENST00000483336.1_FIVE_PRIME_FLANK|||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||false|false||false|false|||false|false|false||false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|||false|false||false||false||false|false|false||false|||false||]
 chr1	6272342	exm8962	C	T	.	PASS	FUNCOTATION=[RNF207|hg19|chr1|6272342|6272342|NONSENSE||SNP|C|C|T|g.chr1:6272342C>T|ENST00000377939.4|+|14|1475|c.1348C>T|c.(1348-1350)Cga>Tga|p.R450*|0.5860349127182045|GGAGCTGCACCGAGACCTCAC|RNF207_ENST00000377948.2_THREE_PRIME_UTR/RNF207_ENST00000483336.1_FIVE_PRIME_FLANK|||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||false|false||false|false|||false|false|false||false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|||false|false||false||false||false|false|false||false|||false||]
 chr1	6272793	exm1853088	G	A	.	PASS	FUNCOTATION=[RNF207|hg19|chr1|6272793|6272793|SPLICE_SITE|MISSENSE|SNP|G|G|A|g.chr1:6272793G>A|ENST00000377939.4|+|15|1661|c.1534G>A|c.(1534-1536)Gcc>Acc|p.A512T|0.5261845386533666|GATTTATGAAGGTTCCAGACA|RNF207_ENST00000377948.2_THREE_PRIME_UTR/RNF207_ENST00000483336.1_FIVE_PRIME_FLANK|||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||false|false||false|false|||false|false|false||false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|||false|false||false||false||false|false|false||false|||false||]
-chr1	6296998	psy_rs12135309	C	T	.	PASS	FUNCOTATION=[LINC00337|hg19|chr1|6296998|6296998|RNA||SNP|C|C|T|g.chr1:6296998C>T|ENST00000441724.1|+|||c.e2-28C>T|||0.543640897755611|CCCGCCACTGCGCCCGTCTTA|LINC00337_ENST00000429480.2_FIVE_PRIME_FLANK|||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||false|false||false|false|||false|false|false||false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|||false|false||false||false||false|false|false||false|||false||]
+chr1	6296998	psy_rs12135309	C	T	.	PASS	FUNCOTATION=[ICMT|hg19|chr1|6296998|6296998|FIVE_PRIME_FLANK||SNP|C|C|T|g.chr1:6296998C>T|ENST00000343813.5|-||||||0.543640897755611|CCCGCCACTGCGCCCGTCTTA|ICMT_ENST00000362035.3_FIVE_PRIME_FLANK/LINC00337_ENST00000441724.1_RNA/LINC00337_ENST00000429480.2_FIVE_PRIME_FLANK|||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||false|false||false|false|||false|false|false||false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|||false|false||false||false||false|false|false||false|||false||]
 chr1	6308929	psy_rs12568183	C	A	.	PASS	FUNCOTATION=[GPR153|hg19|chr1|6308929|6308929|THREE_PRIME_UTR||SNP|C|C|A|g.chr1:6308929C>A|ENST00000377893.2|-|6|||||0.6034912718204489|ACCCTCCCCCCCCCCGAAGGG||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||false|false||false|false|||false|false|false||false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|||false|false||false||false||false|false|false||false|||false||]
 chr1	6378607	exm2252586	G	A	.	PASS	FUNCOTATION=[ACOT7|hg19|chr1|6378607|6378607|SILENT||SNP|G|G|A|g.chr1:6378607G>A|ENST00000377855.2|-|6|834|c.687C>T|c.(685-687)agC>agT|p.S229S|0.5236907730673317|GGTGGATCAAGCTGGACTGGC|ACOT7_ENST00000377845.3_SILENT_p.S199S/ACOT7_ENST00000608083.1_SILENT_p.S187S/ACOT7_ENST00000361521.4_SILENT_p.S219S/ACOT7_ENST00000377842.3_SILENT_p.S178S/ACOT7_ENST00000541130.1_SILENT_p.S199S/ACOT7_ENST00000545482.1_SILENT_p.S114S|||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||false|false||false|false|||false|false|false||false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|||false|false||false||false||false|false|false||false|||false||]
 chr1	6378607	exm9186	G	A	.	PASS	FUNCOTATION=[ACOT7|hg19|chr1|6378607|6378607|SILENT||SNP|G|G|A|g.chr1:6378607G>A|ENST00000377855.2|-|6|834|c.687C>T|c.(685-687)agC>agT|p.S229S|0.5236907730673317|GGTGGATCAAGCTGGACTGGC|ACOT7_ENST00000377845.3_SILENT_p.S199S/ACOT7_ENST00000608083.1_SILENT_p.S187S/ACOT7_ENST00000361521.4_SILENT_p.S219S/ACOT7_ENST00000377842.3_SILENT_p.S178S/ACOT7_ENST00000541130.1_SILENT_p.S199S/ACOT7_ENST00000545482.1_SILENT_p.S114S|||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||false|false||false|false|||false|false|false||false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|||false|false||false||false||false|false|false||false|||false||]
 chr1	6409810	exm2233698	C	A	.	PASS	FUNCOTATION=[ACOT7|hg19|chr1|6409810|6409810|SPLICE_SITE|MISSENSE|SNP|C|C|A|g.chr1:6409810C>A|ENST00000377855.2|-|2|437|c.290G>T|c.(289-291)gGg>gTg|p.G97V|0.6109725685785536|GACCCTTACCCCGTTCTGGCT|ACOT7_ENST00000377845.3_SPLICE_SITE_p.G67V/ACOT7_ENST00000608083.1_SPLICE_SITE_p.G55V/ACOT7_ENST00000361521.4_SPLICE_SITE_p.G87V/ACOT7_ENST00000377842.3_SPLICE_SITE_p.G46V/ACOT7_ENST00000541130.1_SPLICE_SITE_p.G67V/ACOT7_ENST00000545482.1_INTRON|||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||false|false||false|false|||false|false|false||false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|||false|false||false||false||false|false|false||false|||false||]
-chr1	6529605	exm9556	A	G	.	PASS	FUNCOTATION=[PLEKHG5|hg19|chr1|6529605|6529605|SPLICE_SITE|SILENT|SNP|A|A|G|g.chr1:6529605A>G|ENST00000377748.1|-|18|2661|c.2163T>C|c.(2161-2163)ccT>ccC|p.P721P|0.6084788029925187|GCTCCTTACCAGGGTCCCGTA|PLEKHG5_ENST00000340850.5_SPLICE_SITE_p.P644P/PLEKHG5_ENST00000400913.1_SPLICE_SITE_p.P644P/PLEKHG5_ENST00000377732.1_SPLICE_SITE_p.P681P/PLEKHG5_ENST00000400915.3_SPLICE_SITE_p.P700P/PLEKHG5_ENST00000377728.3_SPLICE_SITE_p.P644P/PLEKHG5_ENST00000377740.3_SPLICE_SITE_p.P721P/PLEKHG5_ENST00000377725.1_SPLICE_SITE_p.P644P/PLEKHG5_ENST00000544978.1_SPLICE_SITE_p.P644P/PLEKHG5_ENST00000537245.1_SPLICE_SITE_p.P723P/PLEKHG5_ENST00000377737.2_SPLICE_SITE_p.P644P/PLEKHG5_ENST00000535355.1_SPLICE_SITE_p.P713P|||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||true|false|0.9996_%2C_0.0003994|false|false|0||false|false|false|PLEKHG5:57449|false|true|false|false|true|false|false|false|false|false|false|false|false|false|false|false|false|false|false|true|150807400|6529605|false|true|0|false|0|true|0.997871_%2C_0.00212927|false|false|false|SNV|true|0x050200000305040426000100|1|false|134|rs150807400]
-chr1	6529605	exm9556	A	G	.	PASS	FUNCOTATION=[PLEKHG5|hg19|chr1|6529605|6529605|SPLICE_SITE|SILENT|SNP|A|A|G|g.chr1:6529605A>G|ENST00000377748.1|-|18|2661|c.2163T>C|c.(2161-2163)ccT>ccC|p.P721P|0.6084788029925187|GCTCCTTACCAGGGTCCCGTA|PLEKHG5_ENST00000340850.5_SPLICE_SITE_p.P644P/PLEKHG5_ENST00000400913.1_SPLICE_SITE_p.P644P/PLEKHG5_ENST00000377732.1_SPLICE_SITE_p.P681P/PLEKHG5_ENST00000400915.3_SPLICE_SITE_p.P700P/PLEKHG5_ENST00000377728.3_SPLICE_SITE_p.P644P/PLEKHG5_ENST00000377740.3_SPLICE_SITE_p.P721P/PLEKHG5_ENST00000377725.1_SPLICE_SITE_p.P644P/PLEKHG5_ENST00000544978.1_SPLICE_SITE_p.P644P/PLEKHG5_ENST00000537245.1_SPLICE_SITE_p.P723P/PLEKHG5_ENST00000377737.2_SPLICE_SITE_p.P644P/PLEKHG5_ENST00000535355.1_SPLICE_SITE_p.P713P|||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||true|false|0.9996_%2C_0.0003994|false|false|0||false|false|false|PLEKHG5:57449|false|true|false|false|true|false|false|false|false|false|false|false|false|false|false|false|false|false|false|true|150807400|6529605|false|true|0|false|0|true|0.997871_%2C_0.00212927|false|false|false|SNV|true|0x050200000305040426000100|1|false|134|rs150807400]
+chr1	6529605	exm9556	A	G	.	PASS	FUNCOTATION=[PLEKHG5|hg19|chr1|6529605|6529605|SPLICE_SITE|SILENT|SNP|A|A|G|g.chr1:6529605A>G|ENST00000377748.1|-|18|2661|c.2163T>C|c.(2161-2163)ccT>ccC|p.P721P|0.6084788029925187|GCTCCTTACCAGGGTCCCGTA|PLEKHG5_ENST00000340850.5_SPLICE_SITE_p.P644P/PLEKHG5_ENST00000400913.1_SPLICE_SITE_p.P644P/PLEKHG5_ENST00000377732.1_SPLICE_SITE_p.P681P/PLEKHG5_ENST00000400915.3_SPLICE_SITE_p.P700P/PLEKHG5_ENST00000377728.3_SPLICE_SITE_p.P644P/PLEKHG5_ENST00000377740.3_SPLICE_SITE_p.P721P/PLEKHG5_ENST00000377725.1_SPLICE_SITE_p.P644P/PLEKHG5_ENST00000544978.1_SPLICE_SITE_p.P644P/PLEKHG5_ENST00000537245.1_SPLICE_SITE_p.P723P/PLEKHG5_ENST00000377737.2_SPLICE_SITE_p.P644P/PLEKHG5_ENST00000535355.1_SPLICE_SITE_p.P713P/TNFRSF25_ENST00000348333.3_FIVE_PRIME_FLANK/TNFRSF25_ENST00000351748.3_FIVE_PRIME_FLANK/TNFRSF25_ENST00000351959.5_FIVE_PRIME_FLANK/TNFRSF25_ENST00000356876.3_FIVE_PRIME_FLANK/TNFRSF25_ENST00000377782.3_FIVE_PRIME_FLANK/TNFRSF25_ENST00000461703.2_FIVE_PRIME_FLANK|||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||true|false|0.9996_%2C_0.0003994|false|false|0||false|false|false|PLEKHG5:57449|false|true|false|false|true|false|false|false|false|false|false|false|false|false|false|false|false|false|false|true|150807400|6529605|false|true|0|false|0|true|0.997871_%2C_0.00212927|false|false|false|SNV|true|0x050200000305040426000100|1|false|134|rs150807400]
+chr1	6529605	exm9556	A	G	.	PASS	FUNCOTATION=[PLEKHG5|hg19|chr1|6529605|6529605|SPLICE_SITE|SILENT|SNP|A|A|G|g.chr1:6529605A>G|ENST00000377748.1|-|18|2661|c.2163T>C|c.(2161-2163)ccT>ccC|p.P721P|0.6084788029925187|GCTCCTTACCAGGGTCCCGTA|PLEKHG5_ENST00000340850.5_SPLICE_SITE_p.P644P/PLEKHG5_ENST00000400913.1_SPLICE_SITE_p.P644P/PLEKHG5_ENST00000377732.1_SPLICE_SITE_p.P681P/PLEKHG5_ENST00000400915.3_SPLICE_SITE_p.P700P/PLEKHG5_ENST00000377728.3_SPLICE_SITE_p.P644P/PLEKHG5_ENST00000377740.3_SPLICE_SITE_p.P721P/PLEKHG5_ENST00000377725.1_SPLICE_SITE_p.P644P/PLEKHG5_ENST00000544978.1_SPLICE_SITE_p.P644P/PLEKHG5_ENST00000537245.1_SPLICE_SITE_p.P723P/PLEKHG5_ENST00000377737.2_SPLICE_SITE_p.P644P/PLEKHG5_ENST00000535355.1_SPLICE_SITE_p.P713P/TNFRSF25_ENST00000348333.3_FIVE_PRIME_FLANK/TNFRSF25_ENST00000351748.3_FIVE_PRIME_FLANK/TNFRSF25_ENST00000351959.5_FIVE_PRIME_FLANK/TNFRSF25_ENST00000356876.3_FIVE_PRIME_FLANK/TNFRSF25_ENST00000377782.3_FIVE_PRIME_FLANK/TNFRSF25_ENST00000461703.2_FIVE_PRIME_FLANK|||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||true|false|0.9996_%2C_0.0003994|false|false|0||false|false|false|PLEKHG5:57449|false|true|false|false|true|false|false|false|false|false|false|false|false|false|false|false|false|false|false|true|150807400|6529605|false|true|0|false|0|true|0.997871_%2C_0.00212927|false|false|false|SNV|true|0x050200000305040426000100|1|false|134|rs150807400]
 chr1	6534226	exm9636	T	C	.	PASS	FUNCOTATION=[PLEKHG5|hg19|chr1|6534226|6534226|SPLICE_SITE|INTRON|SNP|T|T|C|g.chr1:6534226T>C|ENST00000377748.1|-|||c.e8+2A>G|c.e8-2||0.6783042394014963|TGGCTGGGGCTGCATGTGGGG|PLEKHG5_ENST00000340850.5_SPLICE_SITE/PLEKHG5_ENST00000400913.1_SPLICE_SITE/PLEKHG5_ENST00000377732.1_SPLICE_SITE/PLEKHG5_ENST00000400915.3_SPLICE_SITE/PLEKHG5_ENST00000377728.3_SPLICE_SITE/PLEKHG5_ENST00000377740.3_SPLICE_SITE/PLEKHG5_ENST00000377725.1_SPLICE_SITE/PLEKHG5_ENST00000544978.1_SPLICE_SITE/PLEKHG5_ENST00000537245.1_SPLICE_SITE/PLEKHG5_ENST00000377737.2_SPLICE_SITE/PLEKHG5_ENST00000535355.1_SPLICE_SITE|||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||true|true|0.9998_%2C_0.0001997|false|false|0||false|false|false|PLEKHG5:57449|false|true|false|true|true|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|144750655|6534226|false|false|0|false|0|false|0.999828_%2C_0.000171715|false|false|false|SNV|true|0x050000200005040436000100|1|false|134|rs144750655]
 chr1	6550505	exm2233725	C	T	.	PASS	FUNCOTATION=[PLEKHG5|hg19|chr1|6550505|6550505|FIVE_PRIME_UTR||SNP|C|C|T|g.chr1:6550505C>T|ENST00000340850.5|-|1|||||0.6633416458852868|CGCGACTCACCTAGGAACAGG|PLEKHG5_ENST00000377725.1_FIVE_PRIME_UTR/PLEKHG5_ENST00000377748.1_INTRON/PLEKHG5_ENST00000377732.1_INTRON/PLEKHG5_ENST00000400915.3_INTRON/PLEKHG5_ENST00000377728.3_INTRON/PLEKHG5_ENST00000377740.3_INTRON/PLEKHG5_ENST00000544978.1_INTRON/PLEKHG5_ENST00000537245.1_INTRON/PLEKHG5_ENST00000377737.2_INTRON/PLEKHG5_ENST00000400913.1_FIVE_PRIME_FLANK/PLEKHG5_ENST00000535355.1_FIVE_PRIME_FLANK|||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||true|false|0.8051_%2C_0.1949|false|false|1||false|true|true|PLEKHG5:57449|true|true|true|true|true|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|11806429|6550505|false|false|0|true|0|false|0.824748_%2C_0.175252|false|false|true|SNV|true|0x05010048000517053f000100|1|false|120|rs11806429]
 chr1	6579843	rs1010584	C	T	.	PASS	FUNCOTATION=[PLEKHG5|hg19|chr1|6579843|6579843|FIVE_PRIME_UTR||SNP|C|C|T|g.chr1:6579843C>T|ENST00000377748.1|-|1|||||0.5860349127182045|ACTTCGCAGCCGCCGCTCACA|PLEKHG5_ENST00000377740.3_FIVE_PRIME_UTR/PLEKHG5_ENST00000377737.2_FIVE_PRIME_UTR|||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||true|false|0.2646_%2C_0.7354|false|false|1||false|true|false|PLEKHG5:57449|true|true|false|true|true|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|1010584|6579843|false|false|0|true|0|false|0.306271_%2C_0.693729|false|false|true|SNV|true|0x05010040000515053f000100|1|false|86|rs1010584]
@@ -809,7 +809,7 @@ chr1	7999982	variant.617	G	A	.	PASS	FUNCOTATION=[TNFRSF9|hg19|chr1|7999982|79999
 chr1	8021973	exm-rs35675666	G	T	.	PASS	FUNCOTATION=[PARK7|hg19|chr1|8021973|8021973|FIVE_PRIME_UTR||SNP|G|G|T|g.chr1:8021973G>T|ENST00000377491.1|+|1|||||0.6583541147132169|GCGGGGCCTGGGTCGGGGCCG|PARK7_ENST00000493678.1_INTRON/PARK7_ENST00000338639.5_INTRON/PARK7_ENST00000377493.5_INTRON/PARK7_ENST00000377488.1_FIVE_PRIME_FLANK/PARK7_ENST00000497113.1_FIVE_PRIME_FLANK|||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||true|false|0.8518_%2C_._%2C_0.1482|false|false|1||false|true|true|PARK7:11315|true|true|true|true|true|false|true|false|false|false|false|false|false|false|false|true|true|false|true|false|35675666|8021973|false|false|0|true|0|false|0.816402_%2C_._%2C_0.183598|false|false|false|SNV|true|0x0501280a0005170537020100|1|false|126|rs35675666]
 chr1	8029464	variant.620	G	A	.	PASS	FUNCOTATION=[PARK7|hg19|chr1|8029464|8029464|SPLICE_SITE|SILENT|SNP|G|G|A|g.chr1:8029464G>A|ENST00000493678.1|+|4|319|c.252G>A|c.(250-252)gaG>gaA|p.E84E|0.3192019950124688|ATTTATCTGAGGTAAAAAATT|PARK7_ENST00000377491.1_SPLICE_SITE_p.E84E/PARK7_ENST00000338639.5_SPLICE_SITE_p.E84E/PARK7_ENST00000377488.1_SPLICE_SITE_p.E84E/PARK7_ENST00000377493.5_INTRON/PARK7_ENST00000497113.1_SPLICE_SITE|||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||true|false||false|false|||false|false|false|PARK7:11315|false|true|true|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|true|749774196|8029464|false|false|0|false|0|true||false|false|false|SNV|false|0x050000080305000402000100|1|false|144|rs749774196]
 chr1	8029464	variant.620	G	A	.	PASS	FUNCOTATION=[PARK7|hg19|chr1|8029464|8029464|SPLICE_SITE|SILENT|SNP|G|G|A|g.chr1:8029464G>A|ENST00000493678.1|+|4|319|c.252G>A|c.(250-252)gaG>gaA|p.E84E|0.3192019950124688|ATTTATCTGAGGTAAAAAATT|PARK7_ENST00000377491.1_SPLICE_SITE_p.E84E/PARK7_ENST00000338639.5_SPLICE_SITE_p.E84E/PARK7_ENST00000377488.1_SPLICE_SITE_p.E84E/PARK7_ENST00000377493.5_INTRON/PARK7_ENST00000497113.1_SPLICE_SITE|||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||true|false||false|false|||false|false|false|PARK7:11315|false|true|true|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|true|749774196|8029464|false|false|0|false|0|true||false|false|false|SNV|false|0x050000080305000402000100|1|false|144|rs749774196]
-chr1	8045014	indel.625	GGCC	G	.	PASS	FUNCOTATION=[PARK7|hg19|chr1|8045015|8045017|IN_FRAME_DEL||DEL|GCC|GCC|-|g.chr1:8045015_8045017delGCC|ENST00000493678.1|+|7|537_539|c.471_473delGCC|c.(469-474)gggcct>ggt|p.P158del|0.4466501240694789|CAAGCCGGGGGCCTGGGACCAGC|PARK7_ENST00000377491.1_IN_FRAME_DEL_p.P158del/PARK7_ENST00000338639.5_IN_FRAME_DEL_p.P158del/PARK7_ENST00000377488.1_IN_FRAME_DEL_p.P158del/PARK7_ENST00000377493.5_IN_FRAME_DEL_p.P138del|||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||true|false||false|false|||false|false|false|PARK7:11315|false|true|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|764877312|8045015|false|false|0|false|0|false||false|false|false|DIV|true|0x050000000005040402000200|1|false|144|rs764877312]
+chr1	8045014	indel.625	GGCC	G	.	PASS	FUNCOTATION=[PARK7|hg19|chr1|8045015|8045017|IN_FRAME_DEL||DEL|GCC|GCC|-|g.chr1:8045015_8045017delGCC|ENST00000493678.1|+|7|537_539|c.471_473delGCC|c.(469-474)gggcct>ggt|p.P158del|0.4466501240694789|CAAGCCGGGGGCCTGGGACCAGC|PARK7_ENST00000377491.1_IN_FRAME_DEL_p.P158del/PARK7_ENST00000338639.5_IN_FRAME_DEL_p.P158del/PARK7_ENST00000377488.1_IN_FRAME_DEL_p.P158del/PARK7_ENST00000377493.5_IN_FRAME_DEL_p.P138del/Y_RNA_ENST00000363474.1_FIVE_PRIME_FLANK|||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||true|false||false|false|||false|false|false|PARK7:11315|false|true|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|764877312|8045015|false|false|0|false|0|false||false|false|false|DIV|true|0x050000000005040402000200|1|false|144|rs764877312]
 chr1	8073830	exm11005	C	T	.	PASS	FUNCOTATION=[ERRFI1|hg19|chr1|8073830|8073830|THREE_PRIME_UTR||SNP|C|C|T|g.chr1:8073830C>T|ENST00000469499.1|-|3|||||0.48877805486284287|TTGTCTTCATCGGAGTTAGGA|ERRFI1_ENST00000474874.1_INTRON/ERRFI1_ENST00000377482.5_MISSENSE_p.D277N/ERRFI1_ENST00000467067.1_THREE_PRIME_UTR|||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||false|false||false|false|||false|false|false||false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|||false|false||false||false||false|false|false||false|||false||]
 chr1	8073919	exm11011	C	T	.	PASS	FUNCOTATION=[ERRFI1|hg19|chr1|8073919|8073919|THREE_PRIME_UTR||SNP|C|C|T|g.chr1:8073919C>T|ENST00000469499.1|-|3|||||0.46384039900249374|ATGAGACCTTCTTAATCTTCG|ERRFI1_ENST00000474874.1_INTRON/ERRFI1_ENST00000377482.5_MISSENSE_p.R247K/ERRFI1_ENST00000467067.1_THREE_PRIME_UTR|||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||false|false||false|false|||false|false|false||false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|||false|false||false||false||false|false|false||false|||false||]
 chr1	8073925	exm11013	C	T	.	PASS	FUNCOTATION=[ERRFI1|hg19|chr1|8073925|8073925|THREE_PRIME_UTR||SNP|C|C|T|g.chr1:8073925C>T|ENST00000469499.1|-|3|||||0.46384039900249374|CCTTCTTAATCTTCGGTGGGT|ERRFI1_ENST00000474874.1_INTRON/ERRFI1_ENST00000377482.5_MISSENSE_p.R245K/ERRFI1_ENST00000467067.1_THREE_PRIME_UTR|||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||false|false||false|false|||false|false|false||false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|||false|false||false||false||false|false|false||false|||false||]
@@ -832,8 +832,8 @@ chr1	8274018	rs390468	G	A	.	PASS	FUNCOTATION=[RP11-431K24.3|hg19|chr1|8274018|82
 chr1	8278899	rs428180	A	C	.	PASS	FUNCOTATION=[RP11-431K24.4|hg19|chr1|8278899|8278899|LINCRNA||SNP|A|A|C|g.chr1:8278899A>C|ENST00000424689.1|-|||c.e2+306T>G|||0.48877805486284287|TGACTTGGTTATTGCGTCACT||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||false|false||false|false|||false|false|false||false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|||false|false||false||false||false|false|false||false|||false||]
 chr1	8280517	rs10864340	C	T	.	PASS	FUNCOTATION=[RP11-431K24.4|hg19|chr1|8280517|8280517|LINCRNA||SNP|C|C|T|g.chr1:8280517C>T|ENST00000424689.1|-|||c.e1+60G>A|||0.49875311720698257|TGCGACCACACAAGCAAGCAG||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||false|false||false|false|||false|false|false||false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|||false|false||false||false||false|false|false||false|||false||]
 chr1	8352240	psy_rs72862684	C	T	.	PASS	FUNCOTATION=[RNU6-991P|hg19|chr1|8352240|8352240|RNA||SNP|C|C|T|g.chr1:8352240C>T|ENST00000516168.1|-|||c.e1+23G>A|||0.40399002493765584|GTTTCATGAACCCGCTGGTCA||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||false|false||false|false|||false|false|false||false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|||false|false||false||false||false|false|false||false|||false||]
-chr1	8384785	exm2275212	C	T	.	PASS	FUNCOTATION=[SLC45A1|hg19|chr1|8384785|8384785|SPLICE_SITE|SILENT|SNP|C|C|T|g.chr1:8384785C>T|ENST00000471889.1|+|2|781|c.396C>T|c.(394-396)ctC>ctT|p.L132L|0.5910224438902744|GCCCCATCCTCGGTGAGCCCC|SLC45A1_ENST00000289877.8_SPLICE_SITE_p.L132L/SLC45A1_ENST00000377479.2_SPLICE_SITE_p.L166L|||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||false|false||false|false|||false|false|false||false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|||false|false||false||false||false|false|false||false|||false||]
-chr1	8384785	exm2275212	C	T	.	PASS	FUNCOTATION=[SLC45A1|hg19|chr1|8384785|8384785|SPLICE_SITE|SILENT|SNP|C|C|T|g.chr1:8384785C>T|ENST00000471889.1|+|2|781|c.396C>T|c.(394-396)ctC>ctT|p.L132L|0.5910224438902744|GCCCCATCCTCGGTGAGCCCC|SLC45A1_ENST00000289877.8_SPLICE_SITE_p.L132L/SLC45A1_ENST00000377479.2_SPLICE_SITE_p.L166L|||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||false|false||false|false|||false|false|false||false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|||false|false||false||false||false|false|false||false|||false||]
+chr1	8384785	exm2275212	C	T	.	PASS	FUNCOTATION=[SLC45A1|hg19|chr1|8384785|8384785|SPLICE_SITE|SILENT|SNP|C|C|T|g.chr1:8384785C>T|ENST00000471889.1|+|2|781|c.396C>T|c.(394-396)ctC>ctT|p.L132L|0.5910224438902744|GCCCCATCCTCGGTGAGCCCC|SLC45A1_ENST00000289877.8_SPLICE_SITE_p.L132L/SLC45A1_ENST00000377479.2_SPLICE_SITE_p.L166L/Y_RNA_ENST00000516445.1_FIVE_PRIME_FLANK|||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||false|false||false|false|||false|false|false||false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|||false|false||false||false||false|false|false||false|||false||]
+chr1	8384785	exm2275212	C	T	.	PASS	FUNCOTATION=[SLC45A1|hg19|chr1|8384785|8384785|SPLICE_SITE|SILENT|SNP|C|C|T|g.chr1:8384785C>T|ENST00000471889.1|+|2|781|c.396C>T|c.(394-396)ctC>ctT|p.L132L|0.5910224438902744|GCCCCATCCTCGGTGAGCCCC|SLC45A1_ENST00000289877.8_SPLICE_SITE_p.L132L/SLC45A1_ENST00000377479.2_SPLICE_SITE_p.L166L/Y_RNA_ENST00000516445.1_FIVE_PRIME_FLANK|||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||false|false||false|false|||false|false|false||false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|||false|false||false||false||false|false|false||false|||false||]
 chr1	8390888	rs2289731	G	A	.	PASS	FUNCOTATION=[SLC45A1|hg19|chr1|8390888|8390888|SILENT||SNP|G|G|A|g.chr1:8390888G>A|ENST00000471889.1|+|5|1720|c.1335G>A|c.(1333-1335)ccG>ccA|p.P445P|0.6384039900249376|CCTCTAAGCCGAGGTCATCAG|SLC45A1_ENST00000289877.8_SILENT_p.P445P/SLC45A1_ENST00000377479.2_SILENT_p.P479P/SLC45A1_ENST00000481265.1_INTRON|||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||false|false||false|false|||false|false|false||false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|||false|false||false||false||false|false|false||false|||false||]
 chr1	8399759	chr1_8399759	G	A	.	PASS	FUNCOTATION=[SLC45A1|hg19|chr1|8399759|8399759|SPLICE_SITE|INTRON|SNP|G|G|A|g.chr1:8399759G>A|ENST00000471889.1|+|||c.e8+1G>A|c.e8+1||0.5635910224438903|GAGTAAGAAGGTAAGTGCTCT|SLC45A1_ENST00000289877.8_SPLICE_SITE/SLC45A1_ENST00000377479.2_SPLICE_SITE|||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||false|false||false|false|||false|false|false||false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|||false|false||false||false||false|false|false||false|||false||]
 chr1	8404093	psy_rs1055236	C	T	.	PASS	FUNCOTATION=[SLC45A1|hg19|chr1|8404093|8404093|THREE_PRIME_UTR||SNP|C|C|T|g.chr1:8404093C>T|ENST00000471889.1|+|9|||||0.5860349127182045|GCCTCGACTCCGGACACGCGC|SLC45A1_ENST00000289877.8_THREE_PRIME_UTR/SLC45A1_ENST00000377479.2_THREE_PRIME_UTR|||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||false|false||false|false|||false|false|false||false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|||false|false||false||false||false|false|false||false|||false||]
@@ -884,7 +884,7 @@ chr1	9931246	exm12673	C	A	.	PASS	FUNCOTATION=[CTNNBIP1|hg19|chr1|9931246|9931246
 chr1	9932027	exm12680	G	A	.	PASS	FUNCOTATION=[CTNNBIP1|hg19|chr1|9932027|9932027|SPLICE_SITE|SILENT|SNP|G|G|A|g.chr1:9932027G>A|ENST00000377263.1|-|4|408|c.96C>T|c.(94-96)aaC>aaT|p.N32N|0.6334164588528678|AGGCACTCACGTTTGATCCCA|CTNNBIP1_ENST00000400904.3_SPLICE_SITE_p.N32N/CTNNBIP1_ENST00000377258.1_SPLICE_SITE_p.N32N/CTNNBIP1_ENST00000377256.1_SPLICE_SITE_p.N32N/CTNNBIP1_ENST00000537447.1_SPLICE_SITE_p.N32N|||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||false|false||false|false|||false|false|false||false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|||false|false||false||false||false|false|false||false|||false||]
 chr1	9994822	indel.687	CT	C	.	PASS	FUNCOTATION=[LZIC|hg19|chr1|9994823|9994823|FRAME_SHIFT_DEL||DEL|T|T|-|g.chr1:9994823delT|ENST00000377223.1|-|5|582|c.333delA|c.(331-333)gcafs|p.E112fs|0.3516209476309227|ATTTTACCTCTGCTAACCTTG|LZIC_ENST00000377213.1_FRAME_SHIFT_DEL_p.E112fs/LZIC_ENST00000400903.2_FRAME_SHIFT_DEL_p.E112fs/LZIC_ENST00000541052.1_FRAME_SHIFT_DEL_p.E133fs|||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||true|false||false|false|||false|false|false|LZIC:84328|false|true|false|false|false|false|false|false|false|false|true|false|false|false|false|false|false|false|false|true|866608629|9994823|false|false|0|false|0|false||false|false|false|DIV|false|0x050000001205000402000200|1|false|147|rs866608629]
 chr1	9996684	exm1958934	C	T	.	PASS	FUNCOTATION=[LZIC|hg19|chr1|9996684|9996684|FIVE_PRIME_UTR||SNP|C|C|T|g.chr1:9996684C>T|ENST00000377223.1|-|3|||||0.4139650872817955|CCATTTTAATCTCTATGTGAA|LZIC_ENST00000377213.1_FIVE_PRIME_UTR/LZIC_ENST00000400903.2_FIVE_PRIME_UTR/LZIC_ENST00000541052.1_SPLICE_SITE_p.E19E|||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||true|false||false|false|||false|false|false|LZIC:84328|false|true|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|true|199633051|9996684|false|false|0|false|0|true||false|false|true|SNV|true|0x050000400305040402000100|1|false|137|rs199633051]
-chr1	10042426	variant.688	G	A	.	PASS	FUNCOTATION=[NMNAT1|hg19|chr1|10042426|10042426|NONSENSE||SNP|G|G|A|g.chr1:10042426G>A|ENST00000377205.1|+|5|651|c.507G>A|c.(505-507)tgG>tgA|p.W169*|0.45885286783042395|CCAATTTGTGGAAGAGTGAAG||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||false|false||false|false|||false|false|false||false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|||false|false||false||false||false|false|false||false|||false||]
+chr1	10042426	variant.688	G	A	.	PASS	FUNCOTATION=[NMNAT1|hg19|chr1|10042426|10042426|NONSENSE||SNP|G|G|A|g.chr1:10042426G>A|ENST00000377205.1|+|5|651|c.507G>A|c.(505-507)tgG>tgA|p.W169*|0.45885286783042395|CCAATTTGTGGAAGAGTGAAG|RP11-807G9.2_ENST00000413148.1_FIVE_PRIME_FLANK|||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||false|false||false|false|||false|false|false||false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|||false|false||false||false||false|false|false||false|||false||]
 chr1	10438687	rs1536262	C	T	.	PASS	FUNCOTATION=[KIF1B|hg19|chr1|10438687|10438687|THREE_PRIME_UTR||SNP|C|C|T|g.chr1:10438687C>T|ENST00000377081.1|+|48|||||0.5087281795511222|TCCCGCTTCACGCAGCAAAGG|KIF1B_ENST00000377086.1_THREE_PRIME_UTR|||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||false|false||false|false|||false|false|false||false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|||false|false||false||false||false|false|false||false|||false||]
 chr1	10478954	indel.710	TC	T	.	PASS	FUNCOTATION=[PGD|hg19|chr1|10478955|10478955|FRAME_SHIFT_DEL||DEL|C|C|-|g.chr1:10478955delC|ENST00000270776.8|+|11|1219|c.1182delC|c.(1180-1182)ttcfs|p.F395fs|0.46384039900249374|TGGACGACTTCTTTAAGTCAG|PGD_ENST00000538557.1_FRAME_SHIFT_DEL_p.F382fs/PGD_ENST00000541529.1_FRAME_SHIFT_DEL_p.F373fs/PGD_ENST00000498356.1_INTRON|||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||true|false||false|false|||false|false|false|PGD:5226|false|true|false|false|false|false|false|false|false|false|true|false|false|false|false|false|false|false|false|true|767877628|10478955|false|false|0|false|0|false||false|false|false|DIV|false|0x050000001205000402000200|1|false|144|rs767877628]
 chr1	10489949	psy_rs147415571	G	A	.	PASS	FUNCOTATION=[APITD1|hg19|chr1|10489949|10489949|FIVE_PRIME_FLANK||SNP|G|G|A|g.chr1:10489949G>A|ENST00000309048.3|+||||||0.4688279301745636|TGGGTTTGATGGTCTCACTTC|APITD1-CORT_ENST00000400900.2_FIVE_PRIME_FLANK/APITD1_ENST00000462462.1_FIVE_PRIME_FLANK/APITD1-CORT_ENST00000465026.1_FIVE_PRIME_FLANK/APITD1-CORT_ENST00000470413.2_FIVE_PRIME_FLANK/APITD1_ENST00000602296.1_FIVE_PRIME_FLANK/APITD1_ENST00000602787.1_FIVE_PRIME_FLANK/RP4-736L20.3_ENST00000607572.1_RNA|||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||false|false||false|false|||false|false|false||false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|||false|false||false||false||false|false|false||false|||false||]
@@ -893,16 +893,16 @@ chr1	10502373	exm13281	C	T	.	PASS	FUNCOTATION=[APITD1|hg19|chr1|10502373|1050237
 chr1	10502710	rs2847337	A	G	.	PASS	FUNCOTATION=[APITD1|hg19|chr1|10502710|10502710|THREE_PRIME_UTR||SNP|A|A|G|g.chr1:10502710A>G|ENST00000309048.3|+|5|||||0.32169576059850374|GTGTGTGATCAAATGGTATAT|APITD1-CORT_ENST00000400900.2_INTRON/APITD1-CORT_ENST00000470413.2_INTRON/APITD1_ENST00000602787.1_INTRON/APITD1_ENST00000602296.1_INTRON/APITD1-CORT_ENST00000465026.1_INTRON|||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||false|false||false|false|||false|false|false||false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|||false|false||false||false||false|false|false||false|||false||]
 chr1	10596294	variant.728	C	T	.	PASS	FUNCOTATION=[PEX14|hg19|chr1|10596294|10596294|NONSENSE||SNP|C|C|T|g.chr1:10596294C>T|ENST00000356607.4|+|3|189|c.109C>T|c.(109-111)Cag>Tag|p.Q37*|0.48877805486284287|GAAGTTTCTACAGAATTCCCG|PEX14_ENST00000538836.1_INTRON/PEX14_ENST00000492696.1_INTRON|||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||false|false||false|false|||false|false|false||false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|||false|false||false||false||false|false|false||false|||false||]
 chr1	11015136	var_1_11015136	G	A	.	PASS	FUNCOTATION=[C1orf127|hg19|chr1|11015136|11015136|NONSENSE||SNP|G|G|A|g.chr1:11015136G>A|ENST00000377004.4|-|9|886|c.886C>T|c.(886-888)Cga>Tga|p.R296*|0.543640897755611|TGGTGGACTCGGAGGAATCTG|C1orf127_ENST00000377008.4_NONSENSE_p.R129*|||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||false|false||false|false|||false|false|false||false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|||false|false||false||false||false|false|false||false|||false||]
-chr1	11087334	newrs137990115	C	A	.	PASS	FUNCOTATION=[MASP2|hg19|chr1|11087334|11087334|NONSENSE||SNP|C|C|A|g.chr1:11087334C>A|ENST00000400897.3|-|11|1685|c.1669G>T|c.(1669-1671)Gaa>Taa|p.E557*|0.4089775561097257|GATTCAGCTTCTTTTCTTGGC||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||false|false||false|false|||false|false|false||false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|||false|false||false||false||false|false|false||false|||false||]
+chr1	11087334	newrs137990115	C	A	.	PASS	FUNCOTATION=[MASP2|hg19|chr1|11087334|11087334|NONSENSE||SNP|C|C|A|g.chr1:11087334C>A|ENST00000400897.3|-|11|1685|c.1669G>T|c.(1669-1671)Gaa>Taa|p.E557*|0.4089775561097257|GATTCAGCTTCTTTTCTTGGC|RP4-635E18.8_ENST00000607145.1_FIVE_PRIME_FLANK|||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||false|false||false|false|||false|false|false||false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|||false|false||false||false||false|false|false||false|||false||]
 chr1	11097774	variant.758	G	T	.	PASS	FUNCOTATION=[MASP2|hg19|chr1|11097774|11097774|NONSENSE||SNP|G|G|T|g.chr1:11097774G>T|ENST00000400897.3|-|7|1000|c.984C>A|c.(982-984)tgC>tgA|p.C328*|0.4089775561097257|AGCCAGTCTCGCAAAAGATGG||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||false|false||false|false|||false|false|false||false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|||false|false||false||false||false|false|false||false|||false||]
 chr1	11106783	exm14040	G	T	.	PASS	FUNCOTATION=[MASP2|hg19|chr1|11106783|11106783|NONSENSE||SNP|G|G|T|g.chr1:11106783G>T|ENST00000400897.3|-|3|258|c.242C>A|c.(241-243)tCg>tAg|p.S81*|0.6433915211970075|CTTGGCCCCCGAGCTCAGCTG|MASP2_ENST00000400898.3_NONSENSE_p.S81*|||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||false|false||false|false|||false|false|false||false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|||false|false||false||false||false|false|false||false|||false||]
-chr1	11128123	exm1694875	T	A	.	PASS	FUNCOTATION=[EXOSC10|hg19|chr1|11128123|11128123|NONSENSE||SNP|T|T|A|g.chr1:11128123T>A|ENST00000376936.4|-|24|2619|c.2569A>T|c.(2569-2571)Aaa>Taa|p.K857*|0.5311720698254364|TGTTTAATTTTTTTGGCTGCA|EXOSC10_ENST00000304457.7_NONSENSE_p.K832*/EXOSC10_ENST00000544779.1_THREE_PRIME_UTR|||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||false|false||false|false|||false|false|false||false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|||false|false||false||false||false|false|false||false|||false||]
+chr1	11128123	exm1694875	T	A	.	PASS	FUNCOTATION=[EXOSC10|hg19|chr1|11128123|11128123|NONSENSE||SNP|T|T|A|g.chr1:11128123T>A|ENST00000376936.4|-|24|2619|c.2569A>T|c.(2569-2571)Aaa>Taa|p.K857*|0.5311720698254364|TGTTTAATTTTTTTGGCTGCA|EXOSC10_ENST00000304457.7_NONSENSE_p.K832*/EXOSC10_ENST00000544779.1_THREE_PRIME_UTR/RP4-635E18.7_ENST00000452378.1_FIVE_PRIME_FLANK|||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||false|false||false|false|||false|false|false||false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|||false|false||false||false||false|false|false||false|||false||]
 chr1	11147637	var_1_11147637	G	T	.	PASS	FUNCOTATION=[EXOSC10|hg19|chr1|11147637|11147637|NONSENSE||SNP|G|G|T|g.chr1:11147637G>T|ENST00000376936.4|-|9|1007|c.957C>A|c.(955-957)taC>taA|p.Y319*|0.38403990024937656|GGAAGCTCCTGTAAGAGTGGT|EXOSC10_ENST00000304457.7_NONSENSE_p.Y319*/EXOSC10_ENST00000544779.1_NONSENSE_p.Y319*/EXOSC10_ENST00000485606.1_FIVE_PRIME_FLANK|||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||false|false||false|false|||false|false|false||false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|||false|false||false||false||false|false|false||false|||false||]
 chr1	11253688	exm14418	C	T	.	PASS	FUNCOTATION=[ANGPTL7|hg19|chr1|11253688|11253688|NONSENSE||SNP|C|C|T|g.chr1:11253688C>T|ENST00000376819.3|+|3|768|c.529C>T|c.(529-531)Cga>Tga|p.R177*|0.5960099750623441|CATCCAGAGACGAAAAAGTGG|MTOR_ENST00000361445.4_INTRON/ANGPTL7_ENST00000476934.1_INTRON|||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||false|false||false|false|||false|false|false||false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|||false|false||false||false||false|false|false||false|||false||]
 chr1	11253722	exm14420	G	A	.	PASS	FUNCOTATION=[ANGPTL7|hg19|chr1|11253722|11253722|NONSENSE||SNP|G|G|A|g.chr1:11253722G>A|ENST00000376819.3|+|3|802|c.563G>A|c.(562-564)tGg>tAg|p.W188*|0.5860349127182045|TACCGGGACTGGAAGCAGTAC|MTOR_ENST00000361445.4_INTRON/ANGPTL7_ENST00000476934.1_INTRON|||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||false|false||false|false|||false|false|false||false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|||false|false||false||false||false|false|false||false|||false||]
 chr1	11346336	psy_rs11580061	A	G	.	PASS	FUNCOTATION=[UBIAD1|hg19|chr1|11346336|11346336|THREE_PRIME_UTR||SNP|A|A|G|g.chr1:11346336A>G|ENST00000376810.5|+|2|||||0.38902743142144636|TGTGTTCTTAAAGATAATATG|UBIAD1_ENST00000376804.2_INTRON|||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||false|false||false|false|||false|false|false||false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|||false|false||false||false||false|false|false||false|||false||]
 chr1	11347092	rs3765906	T	C	.	PASS	FUNCOTATION=[UBIAD1|hg19|chr1|11347092|11347092|THREE_PRIME_UTR||SNP|T|T|C|g.chr1:11347092T>C|ENST00000376810.5|+|2|||||0.5261845386533666|TCCCCACACCTACCCTCCACC|UBIAD1_ENST00000376804.2_INTRON|||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||false|false||false|false|||false|false|false||false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|||false|false||false||false||false|false|false||false|||false||]
-chr1	11721854	rs2294641	C	T	.	PASS	FUNCOTATION=[FBXO44|hg19|chr1|11721854|11721854|THREE_PRIME_UTR||SNP|C|C|T|g.chr1:11721854C>T|ENST00000251547.5|+|6|||||0.6084788029925187|CTCCCAGTCTCTCGCTCTGCC|FBXO44_ENST00000251546.4_THREE_PRIME_UTR/FBXO44_ENST00000376762.4_THREE_PRIME_UTR/FBXO44_ENST00000376770.1_THREE_PRIME_UTR|||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||false|false||false|false|||false|false|false||false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|||false|false||false||false||false|false|false||false|||false||]
+chr1	11721854	rs2294641	C	T	.	PASS	FUNCOTATION=[FBXO44|hg19|chr1|11721854|11721854|THREE_PRIME_UTR||SNP|C|C|T|g.chr1:11721854C>T|ENST00000251547.5|+|6|||||0.6084788029925187|CTCCCAGTCTCTCGCTCTGCC|FBXO44_ENST00000251546.4_THREE_PRIME_UTR/FBXO44_ENST00000376762.4_THREE_PRIME_UTR/FBXO44_ENST00000376770.1_THREE_PRIME_UTR/FBXO6_ENST00000376753.4_FIVE_PRIME_FLANK|||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||false|false||false|false|||false|false|false||false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|||false|false||false||false||false|false|false||false|||false||]
 chr1	11783484	rs4846029	T	G	.	PASS	FUNCOTATION=[DRAXIN|hg19|chr1|11783484|11783484|THREE_PRIME_UTR||SNP|T|T|G|g.chr1:11783484T>G|ENST00000294485.5|+|7|||||0.46633416458852867|CCCTTCCATCTGTAGCAGTGT||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||false|false||false|false|||false|false|false||false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|||false|false||false||false||false|false|false||false|||false||]
 chr1	11810151	variant.827	C	T	.	PASS	FUNCOTATION=[AGTRAP|hg19|chr1|11810151|11810151|NONSENSE||SNP|C|C|T|g.chr1:11810151C>T|ENST00000314340.5|+|5|436|c.382C>T|c.(382-384)Cag>Tag|p.Q128*|0.5885286783042394|TGGGTCTTCTCAGGACCGTAG|AGTRAP_ENST00000376629.4_NONSENSE_p.Q121*/AGTRAP_ENST00000376637.3_MISSENSE_p.S109L/AGTRAP_ENST00000452018.2_MISSENSE_p.S153L/AGTRAP_ENST00000510878.1_SILENT_p.L92L/AGTRAP_ENST00000376627.2_THREE_PRIME_UTR/AGTRAP_ENST00000400895.2_THREE_PRIME_UTR/AGTRAP_ENST00000491346.1_INTRON|||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||false|false||false|false|||false|false|false||false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|||false|false||false||false||false|false|false||false|||false||]
 chr1	11810505	rs8617	C	T	.	PASS	FUNCOTATION=[AGTRAP|hg19|chr1|11810505|11810505|THREE_PRIME_UTR||SNP|C|C|T|g.chr1:11810505C>T|ENST00000314340.5|+|5|||||0.6184538653366584|CTCTCTTTACCTCCTACCCCA|AGTRAP_ENST00000376629.4_THREE_PRIME_UTR/AGTRAP_ENST00000376637.3_THREE_PRIME_UTR/AGTRAP_ENST00000376627.2_THREE_PRIME_UTR/AGTRAP_ENST00000510878.1_THREE_PRIME_UTR/AGTRAP_ENST00000491346.1_INTRON|||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||false|false||false|false|||false|false|false||false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|||false|false||false||false||false|false|false||false|||false||]
@@ -959,8 +959,8 @@ chr1	15471992	rs761301	T	G	.	PASS	FUNCOTATION=[TMEM51-AS1|hg19|chr1|15471992|154
 chr1	15477865	rs1883761	G	A	.	PASS	FUNCOTATION=[TMEM51|hg19|chr1|15477865|15477865|FIVE_PRIME_FLANK||SNP|G|G|A|g.chr1:15477865G>A|ENST00000376008.2|+||||||0.4713216957605985|ATAAGGAGAGGCATGCTTCCT|TMEM51_ENST00000376014.3_FIVE_PRIME_FLANK/TMEM51_ENST00000400796.3_FIVE_PRIME_FLANK/TMEM51_ENST00000428417.1_FIVE_PRIME_FLANK/TMEM51_ENST00000434578.2_FIVE_PRIME_FLANK/TMEM51-AS1_ENST00000310916.3_RNA|||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||false|false||false|false|||false|false|false||false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|||false|false||false||false||false|false|false||false|||false||]
 chr1	15546761	exm2249987	G	A	.	PASS	FUNCOTATION=[TMEM51|hg19|chr1|15546761|15546761|THREE_PRIME_UTR||SNP|G|G|A|g.chr1:15546761G>A|ENST00000428417.1|+|3|||||0.4139650872817955|GGCGGCTCTCGCAGAGCCCCT|TMEM51_ENST00000376008.2_THREE_PRIME_UTR/TMEM51_ENST00000376014.3_THREE_PRIME_UTR/TMEM51_ENST00000400796.3_THREE_PRIME_UTR/TMEM51_ENST00000434578.2_THREE_PRIME_UTR|||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||false|false||false|false|||false|false|false||false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|||false|false||false||false||false|false|false||false|||false||]
 chr1	15701094	variant.986	C	T	.	PASS	FUNCOTATION=[FHAD1|hg19|chr1|15701094|15701094|NONSENSE||SNP|C|C|T|g.chr1:15701094C>T|ENST00000375998.4|+|25|3478|c.3478C>T|c.(3478-3480)Cga>Tga|p.R1160*|0.4937655860349127|ACTTCGAGCGCGAATTAAAGA|FHAD1_ENST00000358897.4_NONSENSE_p.R1160*/FHAD1_ENST00000417793.1_NONSENSE_p.R1124*/FHAD1_ENST00000375999.3_NONSENSE_p.R1160*/FHAD1_ENST00000314740.8_NONSENSE_p.R413*/FHAD1_ENST00000471347.1_INTRON|||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||true|false|0.9998_%2C_0.0001997|false|false|0||false|false|false|FHAD1:114827|false|true|false|false|true|false|false|false|false|false|false|false|true|false|false|false|false|false|false|true|367730091|15701094|false|false|0|false|0|false|0.999141_%2C_0.000858575|false|false|false|SNV|true|0x050000000605040426000100|1|false|138|rs367730091]
-chr1	15732793	rs733887	A	G	.	PASS	FUNCOTATION=[RP3-467K16.4|hg19|chr1|15732793|15732793|LINCRNA||SNP|A|A|G|g.chr1:15732793A>G|ENST00000427824.1|-|||c.e3-1610T>C|||0.486284289276808|TAAAGGATCAATCGTCTTGGT||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||false|false||false|false|||false|false|false||false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|||false|false||false||false||false|false|false||false|||false||]
-chr1	15733394	rs2092324	G	A	.	PASS	FUNCOTATION=[RP3-467K16.4|hg19|chr1|15733394|15733394|LINCRNA||SNP|G|G|A|g.chr1:15733394G>A|ENST00000427824.1|-|||c.e3-1009C>T|||0.5187032418952618|CAATTGCCCCGGATGAATATT||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||false|false||false|false|||false|false|false||false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|||false|false||false||false||false|false|false||false|||false||]
+chr1	15732793	rs733887	A	G	.	PASS	FUNCOTATION=[EFHD2|hg19|chr1|15732793|15732793|FIVE_PRIME_FLANK||SNP|A|A|G|g.chr1:15732793A>G|ENST00000375980.4|+||||||0.486284289276808|TAAAGGATCAATCGTCTTGGT|RP3-467K16.4_ENST00000427824.1_LINCRNA|||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||false|false||false|false|||false|false|false||false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|||false|false||false||false||false|false|false||false|||false||]
+chr1	15733394	rs2092324	G	A	.	PASS	FUNCOTATION=[EFHD2|hg19|chr1|15733394|15733394|FIVE_PRIME_FLANK||SNP|G|G|A|g.chr1:15733394G>A|ENST00000375980.4|+||||||0.5187032418952618|CAATTGCCCCGGATGAATATT|RP3-467K16.4_ENST00000427824.1_LINCRNA|||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||false|false||false|false|||false|false|false||false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|||false|false||false||false||false|false|false||false|||false||]
 chr1	15767020	exm19262	G	A	.	PASS	FUNCOTATION=[CTRC|hg19|chr1|15767020|15767020|NONSENSE||SNP|G|G|A|g.chr1:15767020G>A|ENST00000375949.4|+|3|190|c.164G>A|c.(163-165)tGg>tAg|p.W55*|0.6109725685785536|AACGACACGTGGAGGCATACG|CTRC_ENST00000375943.2_INTRON/CTRC_ENST00000483406.1_INTRON|||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||false|false||false|false|||false|false|false||false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|||false|false||false||false||false|false|false||false|||false||]
 chr1	15813922	exm19463	G	A	.	PASS	FUNCOTATION=[CELA2B|hg19|chr1|15813922|15813922|NONSENSE||SNP|G|G|A|g.chr1:15813922G>A|ENST00000375910.3|+|7|807|c.782G>A|c.(781-783)tGg>tAg|p.W261*|0.5935162094763092|TACAACGACTGGATCAATTCG||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||false|false||false|false|||false|false|false||false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|||false|false||false||false||false|false|false||false|||false||]
 chr1	15844653	exm19536	C	A	.	PASS	FUNCOTATION=[CASP9|hg19|chr1|15844653|15844653|NONSENSE||SNP|C|C|A|g.chr1:15844653C>A|ENST00000333868.5|-|2|465|c.370G>T|c.(370-372)Gaa>Taa|p.E124*|0.486284289276808|CTGGGTGTTTCCGGTCTGAGA|CASP9_ENST00000546424.1_NONSENSE_p.E124*/CASP9_ENST00000348549.5_NONSENSE_p.E124*/CASP9_ENST00000375890.4_NONSENSE_p.E41*/CASP9_ENST00000469637.1_INTRON|||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||true|false||false|false|||false|false|false|CASP9:842|false|true|true|false|false|false|false|false|false|false|false|false|true|false|false|false|false|false|false|true|201216482|15844653|false|false|0|false|0|false||false|false|true|SNV|true|0x050000480605040402000100|1|false|137|rs201216482]
@@ -984,13 +984,13 @@ chr1	16161836	rs4661661	T	C	.	PASS	FUNCOTATION=[RP11-169K16.9|hg19|chr1|16161836
 chr1	16255007	exm20355	C	T	.	PASS	FUNCOTATION=[SPEN|hg19|chr1|16255007|16255007|NONSENSE||SNP|C|C|T|g.chr1:16255007C>T|ENST00000375759.3|+|11|2476|c.2272C>T|c.(2272-2274)Cga>Tga|p.R758*|0.47880299251870323|GCTTTACAGCCGATCCTCAGA||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||true|false||false|false|||false|false|false|SPEN:23013|false|true|false|true|false|false|false|false|false|false|false|false|true|false|false|false|false|false|false|true|72649638|16255007|false|false|0|false|0|false||false|false|false|SNV|false|0x05000000060500041e000100|1|false|130|rs72649638]
 chr1	16341354	rs1048245	T	G	.	PASS	FUNCOTATION=[HSPB7|hg19|chr1|16341354|16341354|THREE_PRIME_UTR||SNP|T|T|G|g.chr1:16341354T>G|ENST00000375718.4|-|4|||||0.6109725685785536|CCAACCCCACTTGGCCTTGCC|HSPB7_ENST00000311890.9_THREE_PRIME_UTR/HSPB7_ENST00000411503.1_THREE_PRIME_UTR/CLCNKA_ENST00000464764.1_FIVE_PRIME_FLANK|||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||false|false||false|false|||false|false|false||false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|||false|false||false||false||false|false|false||false|||false||]
 chr1	16348412	rs945425	T	C	.	PASS	FUNCOTATION=[CLCNKA|hg19|chr1|16348412|16348412|FIVE_PRIME_UTR||SNP|T|T|C|g.chr1:16348412T>C|ENST00000375692.1|+|1|||||0.6134663341645885|TTAATCTCCATGGTAAACCCC|HSPB7_ENST00000311890.9_FIVE_PRIME_FLANK/CLCNKA_ENST00000331433.4_FIVE_PRIME_FLANK/HSPB7_ENST00000375718.4_FIVE_PRIME_FLANK/HSPB7_ENST00000406363.2_FIVE_PRIME_FLANK/HSPB7_ENST00000411503.1_FIVE_PRIME_FLANK/CLCNKA_ENST00000420078.1_FIVE_PRIME_FLANK/CLCNKA_ENST00000439316.2_FIVE_PRIME_FLANK/HSPB7_ENST00000487046.1_FIVE_PRIME_FLANK/HSPB7_ENST00000545268.1_FIVE_PRIME_FLANK/CLCNKA_ENST00000464764.1_INTRON|||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||false|false||false|false|||false|false|false||false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|||false|false||false||false||false|false|false||false|||false||]
-chr1	16486793	rs904106	A	G	.	PASS	FUNCOTATION=[RP11-276H7.3|hg19|chr1|16486793|16486793|RNA||SNP|A|A|G|g.chr1:16486793A>G|ENST00000426353.1|+|||c.e1+872A>G|||0.49875311720698257|CCTGCTCTCAACCAACTGAAC||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||false|false||false|false|||false|false|false||false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|||false|false||false||false||false|false|false||false|||false||]
+chr1	16486793	rs904106	A	G	.	PASS	FUNCOTATION=[EPHA2|hg19|chr1|16486793|16486793|FIVE_PRIME_FLANK||SNP|A|A|G|g.chr1:16486793A>G|ENST00000358432.5|-||||||0.49875311720698257|CCTGCTCTCAACCAACTGAAC|EPHA2_ENST00000461614.1_FIVE_PRIME_FLANK/RP11-276H7.3_ENST00000426353.1_RNA|||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||false|false||false|false|||false|false|false||false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|||false|false||false||false||false|false|false||false|||false||]
 chr1	16524869	rs221031	T	C	.	PASS	FUNCOTATION=[ARHGEF19|hg19|chr1|16524869|16524869|THREE_PRIME_UTR||SNP|T|T|C|g.chr1:16524869T>C|ENST00000270747.3|-|16|||||0.5635910224438903|GAAGAAACTATCCTTGGCCTT|ARHGEF19_ENST00000478117.1_INTRON|||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||false|false||false|false|||false|false|false||false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|||false|false||false||false||false|false|false||false|||false||]
 chr1	16574316	rs3738632	T	C	.	PASS	FUNCOTATION=[FBXO42|hg19|chr1|16574316|16574316|THREE_PRIME_UTR||SNP|T|T|C|g.chr1:16574316T>C|ENST00000375592.3|-|10|||||0.4139650872817955|CGCTCTGCTGTATAACCTGTG||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||false|false||false|false|||false|false|false||false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|||false|false||false||false||false|false|false||false|||false||]
-chr1	16785394	exm21936	C	T	.	PASS	FUNCOTATION=[NECAP2|hg19|chr1|16785394|16785394|THREE_PRIME_UTR||SNP|C|C|T|g.chr1:16785394C>T|ENST00000504551.2|+|6|||||0.5087281795511222|GACCTGAGCACGGTTTTTCCT|NECAP2_ENST00000337132.5_THREE_PRIME_UTR/NECAP2_ENST00000406746.1_THREE_PRIME_UTR/NECAP2_ENST00000443980.2_MISSENSE_p.T242M/NECAP2_ENST00000457722.2_THREE_PRIME_UTR|||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||false|false||false|false|||false|false|false||false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|||false|false||false||false||false|false|false||false|||false||]
+chr1	16785394	exm21936	C	T	.	PASS	FUNCOTATION=[NECAP2|hg19|chr1|16785394|16785394|THREE_PRIME_UTR||SNP|C|C|T|g.chr1:16785394C>T|ENST00000504551.2|+|6|||||0.5087281795511222|GACCTGAGCACGGTTTTTCCT|NECAP2_ENST00000337132.5_THREE_PRIME_UTR/NECAP2_ENST00000406746.1_THREE_PRIME_UTR/NECAP2_ENST00000443980.2_MISSENSE_p.T242M/NECAP2_ENST00000457722.2_THREE_PRIME_UTR/RP4-798A10.2_ENST00000457898.1_FIVE_PRIME_FLANK|||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||false|false||false|false|||false|false|false||false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|||false|false||false||false||false|false|false||false|||false||]
 chr1	16809796	psy_rs41269205	T	G	.	PASS	FUNCOTATION=[CROCCP3|hg19|chr1|16809796|16809796|RNA||SNP|T|T|G|g.chr1:16809796T>G|ENST00000263511.4|-|||c.e10+14A>C|||0.5860349127182045|TCAGGAGCTCTTTGGCGCTCC||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||false|false||false|false|||false|false|false||false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|||false|false||false||false||false|false|false||false|||false||]
 chr1	16847832	rs277462	T	C	.	PASS	FUNCOTATION=[RP4-798A10.4|hg19|chr1|16847832|16847832|LINCRNA||SNP|T|T|C|g.chr1:16847832T>C|ENST00000452795.2|+|||c.e2-227T>C|||0.5685785536159601|ACTGGCAGGGTCTCTGGCGCA||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||false|false||false|false|||false|false|false||false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|||false|false||false||false||false|false|false||false|||false||]
-chr1	17311190	rs9435734	A	G	.	PASS	FUNCOTATION=[RP1-37C10.3|hg19|chr1|17311190|17311190|RNA||SNP|A|A|G|g.chr1:17311190A>G|ENST00000446261.1|+|||c.e1+5583A>G|||0.5361596009975063|ACCACCCTGAACCGTCGCTGG||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||false|false||false|false|||false|false|false||false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|||false|false||false||false||false|false|false||false|||false||]
+chr1	17311190	rs9435734	A	G	.	PASS	FUNCOTATION=[MFAP2|hg19|chr1|17311190|17311190|FIVE_PRIME_FLANK||SNP|A|A|G|g.chr1:17311190A>G|ENST00000375535.3|-||||||0.5361596009975063|ACCACCCTGAACCGTCGCTGG|MFAP2_ENST00000438542.1_FIVE_PRIME_FLANK/MFAP2_ENST00000490075.1_FIVE_PRIME_FLANK/RP1-37C10.3_ENST00000446261.1_RNA|||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||false|false||false|false|||false|false|false||false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|||false|false||false||false||false|false|false||false|||false||]
 chr1	17312485	exm22841	C	T	.	PASS	FUNCOTATION=[ATP13A2|hg19|chr1|17312485|17312485|THREE_PRIME_UTR||SNP|C|C|T|g.chr1:17312485C>T|ENST00000326735.8|-|29|||||0.6159600997506235|ATTTGCTACACTGACAGCAGC|ATP13A2_ENST00000452699.1_THREE_PRIME_UTR/ATP13A2_ENST00000341676.5_MISSENSE_p.V1158M/RP1-37C10.3_ENST00000446261.1_RNA|||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||false|false||false|false|||false|false|false||false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|||false|false||false||false||false|false|false||false|||false||]
 chr1	17312586	exm22845	G	A	.	PASS	FUNCOTATION=[ATP13A2|hg19|chr1|17312586|17312586|THREE_PRIME_UTR||SNP|G|G|A|g.chr1:17312586G>A|ENST00000326735.8|-|29|||||0.6309226932668329|GGGTGGTCTCGGGGGAGGAGT|ATP13A2_ENST00000452699.1_THREE_PRIME_UTR/ATP13A2_ENST00000341676.5_MISSENSE_p.P1124L/RP1-37C10.3_ENST00000446261.1_RNA|||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||false|false||false|false|||false|false|false||false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|||false|false||false||false||false|false|false||false|||false||]
 chr1	17312596	exm22847	T	A	.	PASS	FUNCOTATION=[ATP13A2|hg19|chr1|17312596|17312596|THREE_PRIME_UTR||SNP|T|T|A|g.chr1:17312596T>A|ENST00000326735.8|-|29|||||0.6334164588528678|GGGGGAGGAGTGTAGACAGTC|ATP13A2_ENST00000452699.1_THREE_PRIME_UTR/ATP13A2_ENST00000341676.5_MISSENSE_p.T1121S/RP1-37C10.3_ENST00000446261.1_RNA|||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||false|false||false|false|||false|false|false||false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|||false|false||false||false||false|false|false||false|||false||]
@@ -1043,14 +1043,14 @@ chr1	19198972	kgp24983758	G	A	.	PASS	FUNCOTATION=[ALDH4A1|hg19|chr1|19198972|191
 chr1	19199067	kgp1588165	G	A	.	PASS	FUNCOTATION=[ALDH4A1|hg19|chr1|19199067|19199067|THREE_PRIME_UTR||SNP|G|G|A|g.chr1:19199067G>A|ENST00000375341.3|-|15|||||0.5960099750623441|GCCCAGTGGAGGGCAGAGGGA|ALDH4A1_ENST00000290597.5_INTRON/ALDH4A1_ENST00000538309.1_THREE_PRIME_UTR/ALDH4A1_ENST00000538839.1_THREE_PRIME_UTR/RP13-279N23.2_ENST00000494072.3_INTRON|||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||false|false||false|false|||false|false|false||false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|||false|false||false||false||false|false|false||false|||false||]
 chr1	19199217	kgp25228545	A	G	.	PASS	FUNCOTATION=[ALDH4A1|hg19|chr1|19199217|19199217|THREE_PRIME_UTR||SNP|A|A|G|g.chr1:19199217A>G|ENST00000375341.3|-|15|||||0.6159600997506235|AAGGGAGTCAAGCCCGGATTA|ALDH4A1_ENST00000290597.5_INTRON/ALDH4A1_ENST00000538309.1_THREE_PRIME_UTR/ALDH4A1_ENST00000538839.1_THREE_PRIME_UTR/RP13-279N23.2_ENST00000494072.3_INTRON|||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||false|false||false|false|||false|false|false||false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|||false|false||false||false||false|false|false||false|||false||]
 chr1	19229092	kgp15363246	G	A	.	PASS	FUNCOTATION=[ALDH4A1|hg19|chr1|19229092|19229092|FIVE_PRIME_UTR||SNP|G|G|A|g.chr1:19229092G>A|ENST00000375341.3|-|1|||||0.6408977556109726|CGTCCAGAGCGCACCACCTCG|ALDH4A1_ENST00000290597.5_FIVE_PRIME_FLANK/ALDH4A1_ENST00000538839.1_FIVE_PRIME_FLANK/RP13-279N23.2_ENST00000494072.3_INTRON|||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||false|false||false|false|||false|false|false||false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|||false|false||false||false||false|false|false||false|||false||]
-chr1	19578192	rs2294942	G	A	.	PASS	FUNCOTATION=[MRTO4|hg19|chr1|19578192|19578192|FIVE_PRIME_UTR||SNP|G|G|A|g.chr1:19578192G>A|ENST00000330263.4|+|1|||||0.71571072319202|GCGGCGGCTTGGCAGGGAGAG|MRTO4_ENST00000493700.1_FIVE_PRIME_FLANK|||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||false|false||false|false|||false|false|false||false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|||false|false||false||false||false|false|false||false|||false||]
+chr1	19578192	rs2294942	G	A	.	PASS	FUNCOTATION=[MRTO4|hg19|chr1|19578192|19578192|FIVE_PRIME_UTR||SNP|G|G|A|g.chr1:19578192G>A|ENST00000330263.4|+|1|||||0.71571072319202|GCGGCGGCTTGGCAGGGAGAG|EMC1_ENST00000356068.2_FIVE_PRIME_FLANK/EMC1_ENST00000375199.3_FIVE_PRIME_FLANK/EMC1_ENST00000375208.3_FIVE_PRIME_FLANK/EMC1_ENST00000477853.1_FIVE_PRIME_FLANK/MRTO4_ENST00000493700.1_FIVE_PRIME_FLANK|||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||false|false||false|false|||false|false|false||false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|||false|false||false||false||false|false|false||false|||false||]
 chr1	19593199	rs7527253	T	C	.	PASS	FUNCOTATION=[AKR7L|hg19|chr1|19593199|19593199|THREE_PRIME_UTR||SNP|T|T|C|g.chr1:19593199T>C|ENST00000420396.2|-|5|||||0.3765586034912718|TTTTTACTTATTGGCTATTAT||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||false|false||false|false|||false|false|false||false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|||false|false||false||false||false|false|false||false|||false||]
 chr1	19922387	rs1737416	C	T	.	PASS	FUNCOTATION=[MINOS1|hg19|chr1|19922387|19922387|FIVE_PRIME_FLANK||SNP|C|C|T|g.chr1:19922387C>T|ENST00000322753.6|+||||||0.39900249376558605|TTGCATACAACCTACACACAT|MINOS1_ENST00000486890.1_FIVE_PRIME_FLANK/MINOS1-NBL1_ENST00000602662.1_FIVE_PRIME_FLANK/RP5-1056L3.1_ENST00000416470.1_RNA|||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||false|false||false|false|||false|false|false||false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|||false|false||false||false||false|false|false||false|||false||]
 chr1	19954014	rs880554	G	T	.	PASS	FUNCOTATION=[MINOS1|hg19|chr1|19954014|19954014|THREE_PRIME_UTR||SNP|G|G|T|g.chr1:19954014G>T|ENST00000322753.6|+|4|||||0.4763092269326683|GGAGAAGAGAGGTGTAGGCAA|MINOS1-NBL1_ENST00000602662.1_INTRON|||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||false|false||false|false|||false|false|false||false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|||false|false||false||false||false|false|false||false|||false||]
 chr1	20008880	rs9064	G	T	.	PASS	FUNCOTATION=[TMCO4|hg19|chr1|20008880|20008880|THREE_PRIME_UTR||SNP|G|G|T|g.chr1:20008880G>T|ENST00000294543.6|-|16|||||0.486284289276808|CTCTGTTAGTGGTGTCCAGAT|TMCO4_ENST00000375127.1_THREE_PRIME_UTR/TMCO4_ENST00000375122.2_THREE_PRIME_UTR/TMCO4_ENST00000489814.1_INTRON|||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||false|false||false|false|||false|false|false||false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|||false|false||false||false||false|false|false||false|||false||]
-chr1	20142681	rs3806310	A	G	.	PASS	FUNCOTATION=[RP11-91K11.2|hg19|chr1|20142681|20142681|RNA||SNP|A|A|G|g.chr1:20142681A>G|ENST00000454736.1|+|||c.e1+1635A>G|||0.5461346633416458|CCTTCCATGGAGCAGGACCTT||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||false|false||false|false|||false|false|false||false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|||false|false||false||false||false|false|false||false|||false||]
-chr1	20142866	exm-rs3806308	C	T	.	PASS	FUNCOTATION=[RP11-91K11.2|hg19|chr1|20142866|20142866|RNA||SNP|C|C|T|g.chr1:20142866C>T|ENST00000454736.1|+|||c.e1+1820C>T|||0.5311720698254364|GGGCAAATGGCGGGGTGGCAT||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||false|false||false|false|||false|false|false||false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|||false|false||false||false||false|false|false||false|||false||]
-chr1	20144332	rs17396847	G	A	.	PASS	FUNCOTATION=[RP11-91K11.2|hg19|chr1|20144332|20144332|RNA||SNP|G|G|A|g.chr1:20144332G>A|ENST00000454736.1|+|||c.e2-1404G>A|||0.38403990024937656|AAAGGGTCAGGCATTGATGAG||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||false|false||false|false|||false|false|false||false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|||false|false||false||false||false|false|false||false|||false||]
+chr1	20142681	rs3806310	A	G	.	PASS	FUNCOTATION=[RNF186|hg19|chr1|20142681|20142681|FIVE_PRIME_FLANK||SNP|A|A|G|g.chr1:20142681A>G|ENST00000375121.2|-||||||0.5461346633416458|CCTTCCATGGAGCAGGACCTT|RP11-91K11.2_ENST00000454736.1_RNA|||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||false|false||false|false|||false|false|false||false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|||false|false||false||false||false|false|false||false|||false||]
+chr1	20142866	exm-rs3806308	C	T	.	PASS	FUNCOTATION=[RNF186|hg19|chr1|20142866|20142866|FIVE_PRIME_FLANK||SNP|C|C|T|g.chr1:20142866C>T|ENST00000375121.2|-||||||0.5311720698254364|GGGCAAATGGCGGGGTGGCAT|RP11-91K11.2_ENST00000454736.1_RNA|||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||false|false||false|false|||false|false|false||false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|||false|false||false||false||false|false|false||false|||false||]
+chr1	20144332	rs17396847	G	A	.	PASS	FUNCOTATION=[RNF186|hg19|chr1|20144332|20144332|FIVE_PRIME_FLANK||SNP|G|G|A|g.chr1:20144332G>A|ENST00000375121.2|-||||||0.38403990024937656|AAAGGGTCAGGCATTGATGAG|RP11-91K11.2_ENST00000454736.1_RNA|||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||false|false||false|false|||false|false|false||false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|||false|false||false||false||false|false|false||false|||false||]
 chr1	20238343	rs1046548	A	G	.	PASS	FUNCOTATION=[OTUD3|hg19|chr1|20238343|20238343|THREE_PRIME_UTR||SNP|A|A|G|g.chr1:20238343A>G|ENST00000375120.3|+|8|||||0.46633416458852867|AGCTTACCGCACACCGCTGAT||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||false|false||false|false|||false|false|false||false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|||false|false||false||false||false|false|false||false|||false||]
 chr1	20301964	rs11677	G	A	.	PASS	FUNCOTATION=[PLA2G2A|hg19|chr1|20301964|20301964|THREE_PRIME_UTR||SNP|G|G|A|g.chr1:20301964G>A|ENST00000375111.3|-|6|||||0.5062344139650873|GAGACCCCCCGGAGTACAGCT|PLA2G2A_ENST00000400520.3_THREE_PRIME_UTR/PLA2G2A_ENST00000496748.1_INTRON|||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||false|false||false|false|||false|false|false||false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|||false|false||false||false||false|false|false||false|||false||]
 chr1	20442070	indel.1397	CA	C	.	PASS	FUNCOTATION=[PLA2G2D|hg19|chr1|20442071|20442071|FRAME_SHIFT_DEL||DEL|A|A|-|g.chr1:20442071delA|ENST00000375105.3|-|3|281|c.221delT|c.(220-222)ctgfs|p.L74fs|0.5635910224438903|CTGGGTCTTCAGGTGGTCATA||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||false|false||false|false|||false|false|false||false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|||false|false||false||false||false|false|false||false|||false||]
@@ -1066,7 +1066,7 @@ chr1	20733376	rs10753498	T	C	.	PASS	FUNCOTATION=[RP4-749H3.1|hg19|chr1|20733376|
 chr1	20735361	rs7533344	G	A	.	PASS	FUNCOTATION=[RP4-749H3.1|hg19|chr1|20735361|20735361|LINCRNA||SNP|G|G|A|g.chr1:20735361G>A|ENST00000426428.1|-|||c.e2+2599C>T|||0.4513715710723192|GAAAACTCTCGGCAAACTCTC||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||false|false||false|false|||false|false|false||false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|||false|false||false||false||false|false|false||false|||false||]
 chr1	20735452	rs6426635	G	A	.	PASS	FUNCOTATION=[RP4-749H3.1|hg19|chr1|20735452|20735452|LINCRNA||SNP|G|G|A|g.chr1:20735452G>A|ENST00000426428.1|-|||c.e2+2690C>T|||0.43640897755610975|ACCAGGAAGGGCAAAGGTTAA||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||false|false||false|false|||false|false|false||false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|||false|false||false||false||false|false|false||false|||false||]
 chr1	20736532	rs10916790	C	T	.	PASS	FUNCOTATION=[RP4-749H3.1|hg19|chr1|20736532|20736532|LINCRNA||SNP|C|C|T|g.chr1:20736532C>T|ENST00000426428.1|-|||c.e2+3770G>A|||0.4912718204488778|AACCAACCATCGGAGGGACAC||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||false|false||false|false|||false|false|false||false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|||false|false||false||false||false|false|false||false|||false||]
-chr1	20740016	rs10799633	C	A	.	PASS	FUNCOTATION=[RP4-749H3.1|hg19|chr1|20740016|20740016|LINCRNA||SNP|C|C|A|g.chr1:20740016C>A|ENST00000426428.1|-|||c.e2+7254G>T|||0.5486284289276808|CAGACGGCATCACAGAGGGAA||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||false|false||false|false|||false|false|false||false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|||false|false||false||false||false|false|false||false|||false||]
+chr1	20740016	rs10799633	C	A	.	PASS	FUNCOTATION=[RP4-749H3.1|hg19|chr1|20740016|20740016|LINCRNA||SNP|C|C|A|g.chr1:20740016C>A|ENST00000426428.1|-|||c.e2+7254G>T|||0.5486284289276808|CAGACGGCATCACAGAGGGAA|RP4-749H3.2_ENST00000421114.1_FIVE_PRIME_FLANK|||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||false|false||false|false|||false|false|false||false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|||false|false||false||false||false|false|false||false|||false||]
 chr1	20750561	rs7537381	A	G	.	PASS	FUNCOTATION=[RP4-749H3.1|hg19|chr1|20750561|20750561|LINCRNA||SNP|A|A|G|g.chr1:20750561A>G|ENST00000426428.1|-|||c.e1-4516T>C|||0.30673316708229426|AGTAAACGAAAAAGATAATAT||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||false|false||false|false|||false|false|false||false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|||false|false||false||false||false|false|false||false|||false||]
 chr1	20826910	rs529974	G	A	.	PASS	FUNCOTATION=[MUL1|hg19|chr1|20826910|20826910|THREE_PRIME_UTR||SNP|G|G|A|g.chr1:20826910G>A|ENST00000264198.3|-|4|||||0.5635910224438903|AGTCACACTCGCACTGATCTG||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||false|false||false|false|||false|false|false||false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|||false|false||false||false||false|false|false||false|||false||]
 chr1	20915507	kgp25087902	G	A	.	PASS	FUNCOTATION=[CDA|hg19|chr1|20915507|20915507|FIVE_PRIME_UTR||SNP|G|G|A|g.chr1:20915507G>A|ENST00000375071.3|+|1|||||0.6184538653366584|GAGAGCCTGCGGTCTGGCTGC|CDA_ENST00000461985.1_FIVE_PRIME_FLANK|||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||false|false||false|false|||false|false|false||false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|||false|false||false||false||false|false|false||false|||false||]
@@ -1088,19 +1088,19 @@ chr1	21800057	indel.1508	G	GC	.	PASS	FUNCOTATION=[NBPF3|hg19|chr1|21800057|21800
 chr1	21894604	indel.1522	TG	T	.	PASS	FUNCOTATION=[ALPL|hg19|chr1|21894605|21894605|FRAME_SHIFT_DEL||DEL|G|G|-|g.chr1:21894605delG|ENST00000374840.3|+|7|906|c.657delG|c.(655-657)atgfs|p.G221fs|0.5685785536159601|AGGTGATCATGGGGGGTGGCC|ALPL_ENST00000374832.1_FRAME_SHIFT_DEL_p.G221fs/ALPL_ENST00000425315.2_FRAME_SHIFT_DEL_p.G221fs/ALPL_ENST00000540617.1_FRAME_SHIFT_DEL_p.G166fs/ALPL_ENST00000539907.1_FRAME_SHIFT_DEL_p.G144fs/ALPL_ENST00000374830.1_FIVE_PRIME_FLANK|||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||true|false||false|false|||false|false|false|ALPL:249|false|true|false|false|false|false|false|false|false|false|true|false|false|false|false|false|false|false|false|true|769948289|21894605|false|false|0|false|0|false||false|false|false|DIV|false|0x050000001205000402000200|1|false|144|rs769948289]
 chr1	21914362	rs1256279	C	T	.	PASS	FUNCOTATION=[RP11-63N8.3|hg19|chr1|21914362|21914362|RNA||SNP|C|C|T|g.chr1:21914362C>T|ENST00000457706.1|+|||c.e1+780C>T|||0.5910224438902744|GGGAGGAAGGCGGCCCAGGAA||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||false|false||false|false|||false|false|false||false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|||false|false||false||false||false|false|false||false|||false||]
 chr1	21976289	exm28371	C	T	.	PASS	FUNCOTATION=[RAP1GAP|hg19|chr1|21976289|21976289|FIVE_PRIME_UTR||SNP|C|C|T|g.chr1:21976289C>T|ENST00000374765.4|-|2|||||0.5785536159600998|ACTTGTCCACCCTGAAACACA|RAP1GAP_ENST00000542643.2_FIVE_PRIME_UTR/RAP1GAP_ENST00000290101.4_SPLICE_SITE_p.G15G/RAP1GAP_ENST00000374757.3_SPLICE_SITE|||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||false|false||false|false|||false|false|false||false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|||false|false||false||false||false|false|false||false|||false||]
-chr1	22354866	rs2473295	T	C	.	PASS	FUNCOTATION=[LINC00339|hg19|chr1|22354866|22354866|LINCRNA||SNP|T|T|C|g.chr1:22354866T>C|ENST00000416769.1|+|||c.e2-1907T>C|||0.4488778054862843|TGGGGCTGTATCCTAATGTGA||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||false|false||false|false|||false|false|false||false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|||false|false||false||false||false|false|false||false|||false||]
+chr1	22354866	rs2473295	T	C	.	PASS	FUNCOTATION=[LINC00339|hg19|chr1|22354866|22354866|LINCRNA||SNP|T|T|C|g.chr1:22354866T>C|ENST00000416769.1|+|||c.e2-1907T>C|||0.4488778054862843|TGGGGCTGTATCCTAATGTGA|RP1-224A6.3_ENST00000455966.1_FIVE_PRIME_FLANK|||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||false|false||false|false|||false|false|false||false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|||false|false||false||false||false|false|false||false|||false||]
 chr1	22855441	rs12137696	C	T	.	PASS	FUNCOTATION=[ZBTB40|hg19|chr1|22855441|22855441|THREE_PRIME_UTR||SNP|C|C|T|g.chr1:22855441C>T|ENST00000375647.4|+|18|||||0.5187032418952618|ATCAGATGCCCTCTGGCCCAT|ZBTB40_ENST00000404138.1_THREE_PRIME_UTR|||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||false|false||false|false|||false|false|false||false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|||false|false||false||false||false|false|false||false|||false||]
 chr1	23435538	rs16827981	G	A	.	PASS	FUNCOTATION=[LUZP1|hg19|chr1|23435538|23435538|DE_NOVO_START_IN_FRAME||SNP|G|G|A|g.chr1:23435538G>A|ENST00000302291.4|-|3|||||0.4339152119700748|CAAGCTTTCCGTCAATACTTC|LUZP1_ENST00000314174.5_INTRON/LUZP1_ENST00000418342.1_DE_NOVO_START_IN_FRAME/LUZP1_ENST00000374623.3_DE_NOVO_START_IN_FRAME|||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||true|false|0.8674_%2C_0.1326|false|false|1||false|true|false|LUZP1:7798|true|true|false|true|true|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|16827981|23435538|false|false|0|true|0|false|0.807164_%2C_0.192836|false|false|true|SNV|true|0x050100400005150537000100|1|false|123|rs16827981]
 chr1	23720491	indel.1632	AC	A	.	PASS	FUNCOTATION=[TCEA3|hg19|chr1|23720492|23720492|FRAME_SHIFT_DEL||DEL|C|C|-|g.chr1:23720492delC|ENST00000450454.2|-|8|807|c.699delG|c.(697-699)aagfs|p.K233fs|0.6034912718204489|GGTTCCGGTACTTCATGTCCG||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||true|false||false|false|||false|false|false|TCEA3:6920|false|true|false|false|false|false|false|false|false|false|true|false|false|false|false|false|false|false|false|true|769709955|23720492|false|false|0|false|0|false||false|false|false|DIV|true|0x050000001205040402000200|1|false|144|rs769709955]
 chr1	23751126	exm30864	T	A	.	PASS	FUNCOTATION=[TCEA3|hg19|chr1|23751126|23751126|START_CODON_SNP||SNP|T|T|A|g.chr1:23751126T>A|ENST00000450454.2|-|1|108|c.1A>T|c.(1-3)Atg>Ttg|p.M1L|0.7506234413965087|TCCTGGCCCATGTTGGCCCGC|TCEA3_ENST00000374601.3_START_CODON_SNP_p.M1L|||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||true|false||false|false|||false|false|false|TCEA3:6920|false|true|false|false|false|false|false|false|false|false|false|true|false|false|false|false|false|false|false|true|200503010|23751126|false|true|0|false|0|false|0.999794_%2C_0.000171715_%2C_3.4343e-005|false|false|false|SNV|true|0x050200000a05040402000100|1|false|137|rs200503010]
 chr1	23756350	exm30867	T	C	.	PASS	FUNCOTATION=[ASAP3|hg19|chr1|23756350|23756350|NONSTOP||SNP|T|T|C|g.chr1:23756350T>C|ENST00000336689.3|-|25|2756|c.2711A>G|c.(2710-2712)tAg>tGg|p.*904W|0.4763092269326683|AGCAAGGAGCTAGTCTTGCAA|ASAP3_ENST00000437606.2_NONSTOP_p.*895W/ASAP3_ENST00000495646.1_NONSTOP_p.*408W|||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||true|false||false|false|||false|false|false|ASAP3:55616|false|true|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|true|148021104|23756350|false|false|0|false|0|false||false|false|false|SNV|false|0x050000000205000402000100|1|false|134|rs148021104]
-chr1	24100223	rs7514394	C	T	.	PASS	FUNCOTATION=[RP5-886K2.3|hg19|chr1|24100223|24100223|RNA||SNP|C|C|T|g.chr1:24100223C>T|ENST00000427796.1|-|||c.e2+1307G>A|||0.4389027431421446|CCTGGAAGGGCCTTGTGTCCA|RP5-886K2.3_ENST00000447961.1_FIVE_PRIME_FLANK|||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||false|false||false|false|||false|false|false||false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|||false|false||false||false||false|false|false||false|||false||]
+chr1	24100223	rs7514394	C	T	.	PASS	FUNCOTATION=[PITHD1|hg19|chr1|24100223|24100223|FIVE_PRIME_FLANK||SNP|C|C|T|g.chr1:24100223C>T|ENST00000246151.4|+||||||0.4389027431421446|CCTGGAAGGGCCTTGTGTCCA|RP5-886K2.3_ENST00000427796.1_RNA/RP5-886K2.3_ENST00000447961.1_FIVE_PRIME_FLANK|||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||false|false||false|false|||false|false|false||false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|||false|false||false||false||false|false|false||false|||false||]
 chr1	24201027	var_1_24201027	AG	A	.	PASS	FUNCOTATION=[CNR2|hg19|chr1|24201028|24201028|FRAME_SHIFT_DEL||DEL|G|G|-|g.chr1:24201028delG|ENST00000374472.4|-|2|1243|c.1080delC|c.(1078-1080)tgcfs|p.*361fs|0.5286783042394015|GGCCTCATCAGCAATCAGAGA|CNR2_ENST00000536471.1_FRAME_SHIFT_DEL_p.*361fs|||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||true|false||false|false|||false|false|false|CNR2:1269|false|true|false|false|false|false|false|false|false|false|true|false|false|false|false|false|false|false|false|true|758031503|24201028|false|false|0|false|0|false||false|false|false|DIV|true|0x050000001205040402000200|1|false|144|rs758031503]
 chr1	24372971	rs12401982	C	T	.	PASS	FUNCOTATION=[RP11-293P20.2|hg19|chr1|24372971|24372971|RNA||SNP|C|C|T|g.chr1:24372971C>T|ENST00000439239.2|+|||c.e2+4136C>T|||0.49625935162094764|GTGACTGTATCCGCCCACATT||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||false|false||false|false|||false|false|false||false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|||false|false||false||false||false|false|false||false|||false||]
 chr1	24377326	rs11586125	T	C	.	PASS	FUNCOTATION=[RP11-293P20.2|hg19|chr1|24377326|24377326|RNA||SNP|T|T|C|g.chr1:24377326T>C|ENST00000439239.2|+|||c.e2+8491T>C|||0.5112219451371571|TGAGGCCTGCTCCAGCTCCAG||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||false|false||false|false|||false|false|false||false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|||false|false||false||false||false|false|false||false|||false||]
 chr1	24379601	rs4649163	T	C	.	PASS	FUNCOTATION=[RP11-293P20.2|hg19|chr1|24379601|24379601|RNA||SNP|T|T|C|g.chr1:24379601T>C|ENST00000439239.2|+|||c.e2+10766T>C|||0.5236907730673317|TTAGTCCATGTTGTGTTGCTA||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||false|false||false|false|||false|false|false||false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|||false|false||false||false||false|false|false||false|||false||]
-chr1	24389631	indel.1682	GT	G	.	PASS	FUNCOTATION=[MYOM3|hg19|chr1|24389632|24389632|FRAME_SHIFT_DEL||DEL|T|T|-|g.chr1:24389632delT|ENST00000374434.3|-|32|3918|c.3754delA|c.(3754-3756)accfs|p.T1252fs|0.5785536159600998|AACCAGGTGGTTTTCATGTAC|MYOM3_ENST00000338909.5_FRAME_SHIFT_DEL_p.T145fs/MYOM3_ENST00000330966.7_FRAME_SHIFT_DEL_p.T1255fs/RP11-293P20.2_ENST00000439239.2_RNA|||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||false|false||false|false|||false|false|false||false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|||false|false||false||false||false|false|false||false|||false||]
-chr1	24390612	var_1_24390612	AC	A	.	PASS	FUNCOTATION=[MYOM3|hg19|chr1|24390613|24390613|FRAME_SHIFT_DEL||DEL|C|C|-|g.chr1:24390613delC|ENST00000374434.3|-|30|3735|c.3571delG|c.(3571-3573)gttfs|p.V1191fs|0.5361596009975063|TCGTCAGAAACCATCGCTCTG|MYOM3_ENST00000338909.5_FRAME_SHIFT_DEL_p.V84fs/MYOM3_ENST00000330966.7_FRAME_SHIFT_DEL_p.V1194fs/RP11-293P20.2_ENST00000439239.2_RNA|||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||false|false||false|false|||false|false|false||false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|||false|false||false||false||false|false|false||false|||false||]
+chr1	24389631	indel.1682	GT	G	.	PASS	FUNCOTATION=[MYOM3|hg19|chr1|24389632|24389632|FRAME_SHIFT_DEL||DEL|T|T|-|g.chr1:24389632delT|ENST00000374434.3|-|32|3918|c.3754delA|c.(3754-3756)accfs|p.T1252fs|0.5785536159600998|AACCAGGTGGTTTTCATGTAC|MYOM3_ENST00000338909.5_FRAME_SHIFT_DEL_p.T145fs/MYOM3_ENST00000330966.7_FRAME_SHIFT_DEL_p.T1255fs/RP11-293P20.2_ENST00000439239.2_RNA/RP11-293P20.4_ENST00000429191.1_FIVE_PRIME_FLANK|||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||false|false||false|false|||false|false|false||false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|||false|false||false||false||false|false|false||false|||false||]
+chr1	24390612	var_1_24390612	AC	A	.	PASS	FUNCOTATION=[MYOM3|hg19|chr1|24390613|24390613|FRAME_SHIFT_DEL||DEL|C|C|-|g.chr1:24390613delC|ENST00000374434.3|-|30|3735|c.3571delG|c.(3571-3573)gttfs|p.V1191fs|0.5361596009975063|TCGTCAGAAACCATCGCTCTG|MYOM3_ENST00000338909.5_FRAME_SHIFT_DEL_p.V84fs/MYOM3_ENST00000330966.7_FRAME_SHIFT_DEL_p.V1194fs/RP11-293P20.2_ENST00000439239.2_RNA/RP11-293P20.4_ENST00000429191.1_FIVE_PRIME_FLANK|||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||false|false||false|false|||false|false|false||false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|||false|false||false||false||false|false|false||false|||false||]
 chr1	24527095	exm-rs11249024	T	C	.	PASS	FUNCOTATION=[RP11-10N16.2|hg19|chr1|24527095|24527095|LINCRNA||SNP|T|T|C|g.chr1:24527095T>C|ENST00000439059.2|+|||c.e1+214T>C|||0.44139650872817954|TGAGATGTATTGAAAGATTTG||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||false|false||false|false|||false|false|false||false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|||false|false||false||false||false|false|false||false|||false||]
 chr1	24531634	rs946662	C	A	.	PASS	FUNCOTATION=[RP11-10N16.2|hg19|chr1|24531634|24531634|LINCRNA||SNP|C|C|A|g.chr1:24531634C>A|ENST00000439059.2|+|||c.e2+2545C>A|||0.43640897755610975|AGAGAGCTAACGTAACTTGCC||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||false|false||false|false|||false|false|false||false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|||false|false||false||false||false|false|false||false|||false||]
 chr1	24537652	psy_rs112274538	C	A	.	PASS	FUNCOTATION=[RP11-10N16.2|hg19|chr1|24537652|24537652|LINCRNA||SNP|C|C|A|g.chr1:24537652C>A|ENST00000439059.2|+|||c.e3-531C>A|||0.5211970074812967|CAAATCACTTCTCCAGGAAGT||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||false|false||false|false|||false|false|false||false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|||false|false||false||false||false|false|false||false|||false||]
@@ -1110,27 +1110,27 @@ chr1	24645356	rs2248219	A	G	.	PASS	FUNCOTATION=[GRHL3|hg19|chr1|24645356|2464535
 chr1	24687425	indel.1723	T	TA	.	PASS	FUNCOTATION=[STPG1|hg19|chr1|24687425|24687426|FRAME_SHIFT_INS||INS|-|-|A|g.chr1:24687425_24687426insA|ENST00000374409.1|-|8|1099|c.843_844insT|c.(844-846)aagfs|p.K282fs|0.5|TGAAATGCTTGCGGGGGCCT|STPG1_ENST00000337248.4_FRAME_SHIFT_INS_p.K282fs/STPG1_ENST00000003583.8_FRAME_SHIFT_INS_p.K235fs/GRHL3_ENST00000350501.5_INTRON/STPG1_ENST00000440416.1_FRAME_SHIFT_INS_p.K235fs/STPG1_ENST00000468303.1_INTRON|||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||true|false||false|false|||false|false|false|STPG1:90529_%7C_GRHL3:57822|false|true|true|false|false|false|false|false|false|false|true|false|false|false|false|false|false|false|false|true|868621625|24687425|false|false|0|false|0|false||false|false|false|DIV|false|0x050000081205000402000200|1|false|147|rs868621625]
 chr1	24876383	rs2776747	T	C	.	PASS	FUNCOTATION=[RP4-594I10.3|hg19|chr1|24876383|24876383|LINCRNA||SNP|T|T|C|g.chr1:24876383T>C|ENST00000577528.1|-|||c.e2-1996A>G|||0.4513715710723192|GGGACTTGGATGCTGAATCAA||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||false|false||false|false|||false|false|false||false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|||false|false||false||false||false|false|false||false|||false||]
 chr1	24877458	rs12065278	A	G	.	PASS	FUNCOTATION=[RP4-594I10.3|hg19|chr1|24877458|24877458|LINCRNA||SNP|A|A|G|g.chr1:24877458A>G|ENST00000577528.1|-|||c.e2-921T>C|||0.49625935162094764|TTTTTCTCCAAAGCACTTATT||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||false|false||false|false|||false|false|false||false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|||false|false||false||false||false|false|false||false|||false||]
-chr1	24881126	rs6424099	C	T	.	PASS	FUNCOTATION=[RP4-594I10.3|hg19|chr1|24881126|24881126|LINCRNA||SNP|C|C|T|g.chr1:24881126C>T|ENST00000577528.1|-|||c.e1-1181G>A|||0.5062344139650873|TGGCCTCTCCCTGTAACCAGG||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||false|false||false|false|||false|false|false||false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|||false|false||false||false||false|false|false||false|||false||]
-chr1	24881453	rs6424101	G	T	.	PASS	FUNCOTATION=[RP4-594I10.3|hg19|chr1|24881453|24881453|LINCRNA||SNP|G|G|T|g.chr1:24881453G>T|ENST00000577528.1|-|||c.e1-854C>A|||0.5087281795511222|TGGGTTGGGAGCAGTGGCTCA||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||false|false||false|false|||false|false|false||false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|||false|false||false||false||false|false|false||false|||false||]
+chr1	24881126	rs6424099	C	T	.	PASS	FUNCOTATION=[NCMAP|hg19|chr1|24881126|24881126|FIVE_PRIME_FLANK||SNP|C|C|T|g.chr1:24881126C>T|ENST00000374392.2|+||||||0.5062344139650873|TGGCCTCTCCCTGTAACCAGG|RP4-594I10.3_ENST00000577528.1_LINCRNA|||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||false|false||false|false|||false|false|false||false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|||false|false||false||false||false|false|false||false|||false||]
+chr1	24881453	rs6424101	G	T	.	PASS	FUNCOTATION=[NCMAP|hg19|chr1|24881453|24881453|FIVE_PRIME_FLANK||SNP|G|G|T|g.chr1:24881453G>T|ENST00000374392.2|+||||||0.5087281795511222|TGGGTTGGGAGCAGTGGCTCA|RP4-594I10.3_ENST00000577528.1_LINCRNA|||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||false|false||false|false|||false|false|false||false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|||false|false||false||false||false|false|false||false|||false||]
 chr1	25297184	exm-rs11249215	G	A	.	PASS	FUNCOTATION=[RP11-84D1.2|hg19|chr1|25297184|25297184|LINCRNA||SNP|G|G|A|g.chr1:25297184G>A|ENST00000568143.1|-|||c.e1-172C>T|||0.5910224438902744|GCCACATCCCGTCGTGTCCCC||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||false|false||false|false|||false|false|false||false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|||false|false||false||false||false|false|false||false|||false||]
 chr1	25297184	rs11249215	G	A	.	PASS	FUNCOTATION=[RP11-84D1.2|hg19|chr1|25297184|25297184|LINCRNA||SNP|G|G|A|g.chr1:25297184G>A|ENST00000568143.1|-|||c.e1-172C>T|||0.5910224438902744|GCCACATCCCGTCGTGTCCCC||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||false|false||false|false|||false|false|false||false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|||false|false||false||false||false|false|false||false|||false||]
 chr1	25297217	rs11249216	G	T	.	PASS	FUNCOTATION=[RP11-84D1.2|hg19|chr1|25297217|25297217|LINCRNA||SNP|G|G|T|g.chr1:25297217G>T|ENST00000568143.1|-|||c.e1-139C>A|||0.5885286783042394|CACTCCCCGTGTCTCCCTAAA||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||false|false||false|false|||false|false|false||false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|||false|false||false||false||false|false|false||false|||false||]
 chr1	25908241	rs10902661	C	T	.	PASS	FUNCOTATION=[RP11-70P17.1|hg19|chr1|25908241|25908241|LINCRNA||SNP|C|C|T|g.chr1:25908241C>T|ENST00000412797.1|+|||c.e1-22C>T|||0.5960099750623441|TGACCTGGACCGCATCCCGGT||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||false|false||false|false|||false|false|false||false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|||false|false||false||false||false|false|false||false|||false||]
 chr1	25908805	psy_rs6598889	T	C	.	PASS	FUNCOTATION=[RP11-70P17.1|hg19|chr1|25908805|25908805|LINCRNA||SNP|T|T|C|g.chr1:25908805T>C|ENST00000412797.1|+|||c.e1+542T>C|||0.486284289276808|GGTCTGGGCGTGGTGGCTCAC||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||false|false||false|false|||false|false|false||false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|||false|false||false||false||false|false|false||false|||false||]
 chr1	25914219	rs7546822	T	C	.	PASS	FUNCOTATION=[RP11-70P17.1|hg19|chr1|25914219|25914219|LINCRNA||SNP|T|T|C|g.chr1:25914219T>C|ENST00000412797.1|+|||c.e2-2441T>C|||0.48877805486284287|AAAGAGTTACTGAGAACTGCT||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||false|false||false|false|||false|false|false||false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|||false|false||false||false||false|false|false||false|||false||]
-chr1	26161571	indel.1796	CT	C	.	PASS	FUNCOTATION=[AUNIP|hg19|chr1|26161572|26161572|FRAME_SHIFT_DEL||DEL|T|T|-|g.chr1:26161572delT|ENST00000374298.3|-|3|1042|c.986delA|c.(985-987)cagfs|p.Q329fs|0.44139650872817954|CCCATCCTCCTGGCACTGAGC|AUNIP_ENST00000538789.1_FRAME_SHIFT_DEL_p.Q329fs/AUNIP_ENST00000481602.1_INTRON|||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||false|false||false|false|||false|false|false||false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|||false|false||false||false||false|false|false||false|||false||]
-chr1	26161629	var_1_26161629	GT	G	.	PASS	FUNCOTATION=[AUNIP|hg19|chr1|26161630|26161630|FRAME_SHIFT_DEL||DEL|T|T|-|g.chr1:26161630delT|ENST00000374298.3|-|3|984|c.928delA|c.(928-930)accfs|p.T310fs|0.4339152119700748|CAGTTATTGGTTACATCTTGA|AUNIP_ENST00000538789.1_FRAME_SHIFT_DEL_p.T310fs/AUNIP_ENST00000481602.1_INTRON|||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||false|false||false|false|||false|false|false||false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|||false|false||false||false||false|false|false||false|||false||]
-chr1	26161798	indel.1800	AGG	A	.	PASS	FUNCOTATION=[AUNIP|hg19|chr1|26161799|26161800|FRAME_SHIFT_DEL||DEL|GG|GG|-|g.chr1:26161799_26161800delGG|ENST00000374298.3|-|3|815_816|c.758_759delCC|c.(757-762)tcctggfs|p.S253fs|0.4527363184079602|CTCCATTCCAGGATTCCCTGTA|AUNIP_ENST00000538789.1_FRAME_SHIFT_DEL_p.S253fs/AUNIP_ENST00000481602.1_INTRON|||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||false|false||false|false|||false|false|false||false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|||false|false||false||false||false|false|false||false|||false||]
-chr1	26161915	indel.1804	TG	T	.	PASS	FUNCOTATION=[AUNIP|hg19|chr1|26161916|26161916|FRAME_SHIFT_DEL||DEL|G|G|-|g.chr1:26161916delG|ENST00000374298.3|-|3|698|c.642delC|c.(640-642)cacfs|p.H214fs|0.4488778054862843|GTAGTTTGGTGTGTTTCTCCA|AUNIP_ENST00000538789.1_FRAME_SHIFT_DEL_p.H214fs/AUNIP_ENST00000481602.1_INTRON|||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||false|false||false|false|||false|false|false||false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|||false|false||false||false||false|false|false||false|||false||]
+chr1	26161571	indel.1796	CT	C	.	PASS	FUNCOTATION=[AUNIP|hg19|chr1|26161572|26161572|FRAME_SHIFT_DEL||DEL|T|T|-|g.chr1:26161572delT|ENST00000374298.3|-|3|1042|c.986delA|c.(985-987)cagfs|p.Q329fs|0.44139650872817954|CCCATCCTCCTGGCACTGAGC|AUNIP_ENST00000538789.1_FRAME_SHIFT_DEL_p.Q329fs/AUNIP_ENST00000481602.1_INTRON/RP1-317E23.7_ENST00000606617.1_FIVE_PRIME_FLANK|||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||false|false||false|false|||false|false|false||false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|||false|false||false||false||false|false|false||false|||false||]
+chr1	26161629	var_1_26161629	GT	G	.	PASS	FUNCOTATION=[AUNIP|hg19|chr1|26161630|26161630|FRAME_SHIFT_DEL||DEL|T|T|-|g.chr1:26161630delT|ENST00000374298.3|-|3|984|c.928delA|c.(928-930)accfs|p.T310fs|0.4339152119700748|CAGTTATTGGTTACATCTTGA|AUNIP_ENST00000538789.1_FRAME_SHIFT_DEL_p.T310fs/AUNIP_ENST00000481602.1_INTRON/RP1-317E23.7_ENST00000606617.1_FIVE_PRIME_FLANK|||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||false|false||false|false|||false|false|false||false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|||false|false||false||false||false|false|false||false|||false||]
+chr1	26161798	indel.1800	AGG	A	.	PASS	FUNCOTATION=[AUNIP|hg19|chr1|26161799|26161800|FRAME_SHIFT_DEL||DEL|GG|GG|-|g.chr1:26161799_26161800delGG|ENST00000374298.3|-|3|815_816|c.758_759delCC|c.(757-762)tcctggfs|p.S253fs|0.4527363184079602|CTCCATTCCAGGATTCCCTGTA|AUNIP_ENST00000538789.1_FRAME_SHIFT_DEL_p.S253fs/AUNIP_ENST00000481602.1_INTRON/RP1-317E23.7_ENST00000606617.1_FIVE_PRIME_FLANK|||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||false|false||false|false|||false|false|false||false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|||false|false||false||false||false|false|false||false|||false||]
+chr1	26161915	indel.1804	TG	T	.	PASS	FUNCOTATION=[AUNIP|hg19|chr1|26161916|26161916|FRAME_SHIFT_DEL||DEL|G|G|-|g.chr1:26161916delG|ENST00000374298.3|-|3|698|c.642delC|c.(640-642)cacfs|p.H214fs|0.4488778054862843|GTAGTTTGGTGTGTTTCTCCA|AUNIP_ENST00000538789.1_FRAME_SHIFT_DEL_p.H214fs/AUNIP_ENST00000481602.1_INTRON/RP1-317E23.7_ENST00000606617.1_FIVE_PRIME_FLANK|||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||false|false||false|false|||false|false|false||false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|||false|false||false||false||false|false|false||false|||false||]
 chr1	26164008	indel.1810	AG	A	.	PASS	FUNCOTATION=[AUNIP|hg19|chr1|26164009|26164009|FRAME_SHIFT_DEL||DEL|G|G|-|g.chr1:26164009delG|ENST00000374298.3|-|2|171|c.115delC|c.(115-117)ctcfs|p.L39fs|0.39650872817955113|CCAGGAAGGAGTGTTAGCATT|AUNIP_ENST00000538789.1_FRAME_SHIFT_DEL_p.L39fs/AUNIP_ENST00000481602.1_INTRON|||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||false|false||false|false|||false|false|false||false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|||false|false||false||false||false|false|false||false|||false||]
 chr1	26301006	indel.1816	AC	A	.	PASS	FUNCOTATION=[PAFAH2|hg19|chr1|26301007|26301007|FRAME_SHIFT_DEL||DEL|C|C|-|g.chr1:26301007delC|ENST00000374282.3|-|9|1074|c.893delG|c.(892-894)tgtfs|p.C298fs|0.4538653366583541|ATGCTGGGCACATATCTTCTT|PAFAH2_ENST00000374284.1_FRAME_SHIFT_DEL_p.C298fs|||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||false|false||false|false|||false|false|false||false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|||false|false||false||false||false|false|false||false|||false||]
 chr1	26496455	rs2232648	C	T	.	PASS	FUNCOTATION=[ZNF593|hg19|chr1|26496455|26496455|FIVE_PRIME_UTR||SNP|C|C|T|g.chr1:26496455C>T|ENST00000374266.5|+|1|||||0.71571072319202|GCCCCTTGGCCGGCCGGGCTG|ZNF593_ENST00000270812.5_FIVE_PRIME_UTR/RP11-96L14.7_ENST00000407889.2_RNA|||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||false|false||false|false|||false|false|false||false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|||false|false||false||false||false|false|false||false|||false||]
 chr1	26560745	rs3795687	G	A	.	PASS	FUNCOTATION=[CEP85|hg19|chr1|26560745|26560745|FIVE_PRIME_UTR||SNP|G|G|A|g.chr1:26560745G>A|ENST00000252992.4|+|1|||||0.6758104738154613|CCGCAGACGTGGTGGCTGCAG|CEP85_ENST00000451429.2_FIVE_PRIME_UTR|||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||false|false||false|false|||false|false|false||false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|||false|false||false||false||false|false|false||false|||false||]
 chr1	26570762	indel.1881	AC	A	.	PASS	FUNCOTATION=[CEP85|hg19|chr1|26570763|26570763|FRAME_SHIFT_DEL||DEL|C|C|-|g.chr1:26570763delC|ENST00000252992.4|+|3|292|c.162delC|c.(160-162)gacfs|p.D54fs|0.428927680798005|GTGTAGCCGACAGTGGGGACA|CEP85_ENST00000451429.2_INTRON|||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||false|false||false|false|||false|false|false||false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|||false|false||false||false||false|false|false||false|||false||]
-chr1	27020012	rs4466675	C	T	.	PASS	FUNCOTATION=[RP5-968P14.2|hg19|chr1|27020012|27020012|RNA||SNP|C|C|T|g.chr1:27020012C>T|ENST00000569378.1|-|||c.e1-610G>A|||0.5112219451371571|TTCCTGGGATCGTGGTGTGGG||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||false|false||false|false|||false|false|false||false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|||false|false||false||false||false|false|false||false|||false||]
-chr1	27558522	rs10902652	C	T	.	PASS	FUNCOTATION=[RP11-40H20.4|hg19|chr1|27558522|27558522|RNA||SNP|C|C|T|g.chr1:27558522C>T|ENST00000425205.1|-|||c.e2-1414G>A|||0.5286783042394015|TGGTGGCGGGCGCCTGTAGTC||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||false|false||false|false|||false|false|false||false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|||false|false||false||false||false|false|false||false|||false||]
+chr1	27020012	rs4466675	C	T	.	PASS	FUNCOTATION=[ARID1A|hg19|chr1|27020012|27020012|FIVE_PRIME_FLANK||SNP|C|C|T|g.chr1:27020012C>T|ENST00000324856.7|+||||||0.5112219451371571|TTCCTGGGATCGTGGTGTGGG|ARID1A_ENST00000457599.2_FIVE_PRIME_FLANK/RP5-968P14.2_ENST00000569378.1_RNA|||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||false|false||false|false|||false|false|false||false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|||false|false||false||false||false|false|false||false|||false||]
+chr1	27558522	rs10902652	C	T	.	PASS	FUNCOTATION=[WDTC1|hg19|chr1|27558522|27558522|FIVE_PRIME_FLANK||SNP|C|C|T|g.chr1:27558522C>T|ENST00000319394.3|+||||||0.5286783042394015|TGGTGGCGGGCGCCTGTAGTC|WDTC1_ENST00000361771.3_FIVE_PRIME_FLANK/RP11-40H20.4_ENST00000425205.1_RNA|||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||false|false||false|false|||false|false|false||false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|||false|false||false||false||false|false|false||false|||false||]
 chr1	28120132	indel.2029	AC	A	.	PASS	FUNCOTATION=[STX12|hg19|chr1|28120133|28120133|FRAME_SHIFT_DEL||DEL|C|C|-|g.chr1:28120133delC|ENST00000373943.4|+|3|402|c.278delC|c.(277-279)actfs|p.T93fs|0.40399002493765584|CCCTTATCTACTTCAGAACAG|STX12_ENST00000468761.1_INTRON|||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||false|false||false|false|||false|false|false||false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|||false|false||false||false||false|false|false||false|||false||]
-chr1	28906454	var_1_28906454	C	T	.	PASS	FUNCOTATION=[SNHG12|hg19|chr1|28906454|28906454|RNA||SNP|C|C|T|g.chr1:28906454C>T|ENST00000488745.1|-|||c.e4+30G>A|||0.48877805486284287|ACAAGCTCACCTCCTCAGTAT|SNHG12_ENST00000531126.1_RNA/SNHG12_ENST00000483436.1_SPLICE_SITE/SNHG12_ENST00000475441.1_SPLICE_SITE/SNHG12_ENST00000384581.1_FIVE_PRIME_FLANK|||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||false|false||false|false|||false|false|false||false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|||false|false||false||false||false|false|false||false|||false||]
+chr1	28906454	var_1_28906454	C	T	.	PASS	FUNCOTATION=[SNHG12|hg19|chr1|28906454|28906454|RNA||SNP|C|C|T|g.chr1:28906454C>T|ENST00000488745.1|-|||c.e4+30G>A|||0.48877805486284287|ACAAGCTCACCTCCTCAGTAT|SNHG12_ENST00000531126.1_RNA/SNHG12_ENST00000483436.1_SPLICE_SITE/SNHG12_ENST00000475441.1_SPLICE_SITE/SNHG12_ENST00000384581.1_FIVE_PRIME_FLANK/SNORD99_ENST00000408612.1_FIVE_PRIME_FLANK|||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||false|false||false|false|||false|false|false||false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|||false|false||false||false||false|false|false||false|||false||]
 chr1	29194818	rs204069	A	G	.	PASS	FUNCOTATION=[RP1-212P9.2|hg19|chr1|29194818|29194818|LINCRNA||SNP|A|A|G|g.chr1:29194818A>G|ENST00000443593.2|+|||c.e1-254A>G|||0.4937655860349127|TAATACGATCATCAGCCTCAC||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||false|false||false|false|||false|false|false||false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|||false|false||false||false||false|false|false||false|||false||]
 chr1	29194901	exm2268873	C	T	.	PASS	FUNCOTATION=[RP1-212P9.2|hg19|chr1|29194901|29194901|LINCRNA||SNP|C|C|T|g.chr1:29194901C>T|ENST00000443593.2|+|||c.e1-171C>T|||0.4937655860349127|GTCACTTCACCTCCACGAGAG||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||false|false||false|false|||false|false|false||false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|||false|false||false||false||false|false|false||false|||false||]
 chr1	29200219	rs7511894	T	C	.	PASS	FUNCOTATION=[RP1-212P9.3|hg19|chr1|29200219|29200219|RNA||SNP|T|T|C|g.chr1:29200219T>C|ENST00000418471.1|-|||c.e2+1219A>G|||0.5561097256857855|AGCTACACTCTTGGATCCCTG||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||false|false||false|false|||false|false|false||false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|||false|false||false||false||false|false|false||false|||false||]
@@ -1138,29 +1138,29 @@ chr1	29658494	rs7530986	T	C	.	PASS	FUNCOTATION=[RP3-437I16.1|hg19|chr1|29658494|
 chr1	29670073	psy_rs16838142	T	C	.	PASS	FUNCOTATION=[RP3-437I16.1|hg19|chr1|29670073|29670073|LINCRNA||SNP|T|T|C|g.chr1:29670073T>C|ENST00000417651.1|-|||c.e1-6122A>G|||0.5461346633416458|AGTCGTTCCATTTCCACACTT||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||false|false||false|false|||false|false|false||false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|||false|false||false||false||false|false|false||false|||false||]
 chr1	30487342	rs453149	T	C	.	PASS	FUNCOTATION=[RP11-111I12.1|hg19|chr1|30487342|30487342|LINCRNA||SNP|T|T|C|g.chr1:30487342T>C|ENST00000445180.2|-|||c.e7-14A>G|||0.5286783042394015|AAGGAGAGCTTGGGGTGACTC||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||false|false||false|false|||false|false|false||false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|||false|false||false||false||false|false|false||false|||false||]
 chr1	30494591	rs1603724	G	A	.	PASS	FUNCOTATION=[RP11-111I12.1|hg19|chr1|30494591|30494591|LINCRNA||SNP|G|G|A|g.chr1:30494591G>A|ENST00000445180.2|-|||c.e4-3281C>T|||0.29925187032418954|TGAAAGTATCGCCATCTTAAC||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||false|false||false|false|||false|false|false||false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|||false|false||false||false||false|false|false||false|||false||]
-chr1	31198733	rs1149048	A	G	.	PASS	FUNCOTATION=[MATN1-AS1|hg19|chr1|31198733|31198733|RNA||SNP|A|A|G|g.chr1:31198733A>G|ENST00000414532.2|+|||c.e3+151A>G|||0.57356608478803|GGCTGTGTCCAGGGCTCAGGG|MATN1-AS1_ENST00000454613.1_RNA/MATN1-AS1_ENST00000443076.1_RNA|||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||false|false||false|false|||false|false|false||false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|||false|false||false||false||false|false|false||false|||false||]
-chr1	32110813	rs7542583	A	G	.	PASS	FUNCOTATION=[RP11-73M7.6|hg19|chr1|32110813|32110813|RNA||SNP|A|A|G|g.chr1:32110813A>G|ENST00000610043.1|+|||c.e1+916A>G|||0.57356608478803|AACCTGGCAAATGGGACGCAT|RP11-73M7.6_ENST00000609549.1_RNA/RP11-73M7.6_ENST00000609625.1_RNA/RP11-73M7.6_ENST00000607926.1_RNA/RP11-73M7.6_ENST00000585660.1_RNA/RP11-73M7.6_ENST00000610216.1_RNA/RP11-73M7.6_ENST00000608246.1_RNA/RP11-73M7.6_ENST00000608888.1_RNA/RP11-73M7.6_ENST00000608332.1_RNA/RP11-73M7.6_ENST00000591592.1_RNA/RP11-73M7.9_ENST00000581333.1_RNA/RP11-73M7.6_ENST00000585413.1_FIVE_PRIME_FLANK/RP11-73M7.6_ENST00000587445.1_FIVE_PRIME_FLANK/RP11-73M7.6_ENST00000589462.1_FIVE_PRIME_FLANK/RP11-73M7.6_ENST00000591929.1_FIVE_PRIME_FLANK/RP11-73M7.6_ENST00000593188.1_FIVE_PRIME_FLANK/RP11-73M7.6_ENST00000609033.1_FIVE_PRIME_FLANK/RP11-73M7.6_ENST00000609338.1_FIVE_PRIME_FLANK/RP11-73M7.6_ENST00000609373.1_FIVE_PRIME_FLANK|||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||false|false||false|false|||false|false|false||false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|||false|false||false||false||false|false|false||false|||false||]
-chr1	32374452	indel.2196	TC	T	.	PASS	FUNCOTATION=[PTP4A2|hg19|chr1|32374453|32374453|FRAME_SHIFT_DEL||DEL|C|C|-|g.chr1:32374453delC|ENST00000602725.1|-|5|923|c.505_504delG|c.(502-504)tagfs|p.M169fs|0.36159600997506236|ACATTTCCTTCTACTGAACAC|PTP4A2_ENST00000457805.2_FRAME_SHIFT_DEL_p.M138fs/PTP4A2_ENST00000470404.1_THREE_PRIME_UTR/PTP4A2_ENST00000344035.6_FRAME_SHIFT_DEL_p.M169fs/PTP4A2_ENST00000356536.3_THREE_PRIME_UTR/RP11-84A19.4_ENST00000602889.1_LINCRNA|||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||false|false||false|false|||false|false|false||false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|||false|false||false||false||false|false|false||false|||false||]
+chr1	31198733	rs1149048	A	G	.	PASS	FUNCOTATION=[MATN1|hg19|chr1|31198733|31198733|FIVE_PRIME_FLANK||SNP|A|A|G|g.chr1:31198733A>G|ENST00000373765.4|-||||||0.57356608478803|GGCTGTGTCCAGGGCTCAGGG|MATN1-AS1_ENST00000414532.2_RNA/MATN1-AS1_ENST00000454613.1_RNA/MATN1-AS1_ENST00000443076.1_RNA|||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||false|false||false|false|||false|false|false||false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|||false|false||false||false||false|false|false||false|||false||]
+chr1	32110813	rs7542583	A	G	.	PASS	FUNCOTATION=[PEF1|hg19|chr1|32110813|32110813|FIVE_PRIME_FLANK||SNP|A|A|G|g.chr1:32110813A>G|ENST00000373703.4|-||||||0.57356608478803|AACCTGGCAAATGGGACGCAT|PEF1_ENST00000440872.2_FIVE_PRIME_FLANK/PEF1_ENST00000492061.1_FIVE_PRIME_FLANK/RP11-73M7.6_ENST00000610043.1_RNA/RP11-73M7.6_ENST00000609549.1_RNA/RP11-73M7.6_ENST00000609625.1_RNA/RP11-73M7.6_ENST00000607926.1_RNA/RP11-73M7.6_ENST00000585660.1_RNA/RP11-73M7.6_ENST00000610216.1_RNA/RP11-73M7.6_ENST00000608246.1_RNA/RP11-73M7.6_ENST00000608888.1_RNA/RP11-73M7.6_ENST00000608332.1_RNA/RP11-73M7.6_ENST00000591592.1_RNA/RP11-73M7.9_ENST00000581333.1_RNA/RP11-73M7.6_ENST00000585413.1_FIVE_PRIME_FLANK/RP11-73M7.6_ENST00000587445.1_FIVE_PRIME_FLANK/RP11-73M7.6_ENST00000589462.1_FIVE_PRIME_FLANK/RP11-73M7.6_ENST00000591929.1_FIVE_PRIME_FLANK/RP11-73M7.6_ENST00000593188.1_FIVE_PRIME_FLANK/RP11-73M7.6_ENST00000609033.1_FIVE_PRIME_FLANK/RP11-73M7.6_ENST00000609338.1_FIVE_PRIME_FLANK/RP11-73M7.6_ENST00000609373.1_FIVE_PRIME_FLANK|||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||false|false||false|false|||false|false|false||false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|||false|false||false||false||false|false|false||false|||false||]
+chr1	32374452	indel.2196	TC	T	.	PASS	FUNCOTATION=[PTP4A2|hg19|chr1|32374453|32374453|FRAME_SHIFT_DEL||DEL|C|C|-|g.chr1:32374453delC|ENST00000602725.1|-|5|923|c.505_504delG|c.(502-504)tagfs|p.M169fs|0.36159600997506236|ACATTTCCTTCTACTGAACAC|PTP4A2_ENST00000457805.2_FRAME_SHIFT_DEL_p.M138fs/PTP4A2_ENST00000470404.1_THREE_PRIME_UTR/PTP4A2_ENST00000344035.6_FRAME_SHIFT_DEL_p.M169fs/PTP4A2_ENST00000356536.3_THREE_PRIME_UTR/AL136115.1_ENST00000391369.1_FIVE_PRIME_FLANK/RP11-84A19.4_ENST00000602889.1_LINCRNA|||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||false|false||false|false|||false|false|false||false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|||false|false||false||false||false|false|false||false|||false||]
 chr1	32752074	rs11807976	G	A	.	PASS	FUNCOTATION=[Y_RNA|hg19|chr1|32752074|32752074|RNA||SNP|G|G|A|g.chr1:32752074G>A|ENST00000516641.1|-|||c.e1+21C>T|||0.47381546134663344|CAAATGAAGCGGCGGGAATGG||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||false|false||false|false|||false|false|false||false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|||false|false||false||false||false|false|false||false|||false||]
 chr1	33187046	rs359952	C	T	.	PASS	FUNCOTATION=[RP11-114B7.6|hg19|chr1|33187046|33187046|RNA||SNP|C|C|T|g.chr1:33187046C>T|ENST00000421619.1|-|||c.e2+3477G>A|||0.5660847880299252|CAGCCCTCATCTCTTTTTACC||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||false|false||false|false|||false|false|false||false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|||false|false||false||false||false|false|false||false|||false||]
 chr1	33402441	indel.2276	AC	A	.	PASS	FUNCOTATION=[RNF19B|hg19|chr1|33402442|33402442|FRAME_SHIFT_DEL||DEL|C|C|-|g.chr1:33402442delC|ENST00000373456.7|-|9|2165|c.2164delG|c.(2164-2166)gtcfs|p.V722fs|0.4912718204488778|GGCTTCAAGACAGTTTGTCCC|RNF19B_ENST00000235150.4_FRAME_SHIFT_DEL_p.V721fs/RNF19B_ENST00000356990.5_THREE_PRIME_UTR|||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||false|false||false|false|||false|false|false||false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|||false|false||false||false||false|false|false||false|||false||]
 chr1	33472942	rs1534893	A	G	.	PASS	FUNCOTATION=[RP1-117O3.2|hg19|chr1|33472942|33472942|RNA||SNP|A|A|G|g.chr1:33472942A>G|ENST00000427524.1|+|||c.e1+20022A>G|||0.5261845386533666|TCTAAACCCAAAGCTGCTGCA||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||false|false||false|false|||false|false|false||false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|||false|false||false||false||false|false|false||false|||false||]
 chr1	35239992	rs639126	T	C	.	PASS	FUNCOTATION=[RP1-34M23.5|hg19|chr1|35239992|35239992|RNA||SNP|T|T|C|g.chr1:35239992T>C|ENST00000542839.1|-|||c.e2+12516A>G|||0.543640897755611|TGATGCCCTATACTCTTGCAG||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||false|false||false|false|||false|false|false||false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|||false|false||false||false||false|false|false||false|||false||]
-chr1	35246297	rs1764405	A	G	.	PASS	FUNCOTATION=[RP1-34M23.5|hg19|chr1|35246297|35246297|RNA||SNP|A|A|G|g.chr1:35246297A>G|ENST00000542839.1|-|||c.e1-7292T>C|||0.4763092269326683|AGGCTGGGGCACTGCAGGCTT||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||false|false||false|false|||false|false|false||false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|||false|false||false||false||false|false|false||false|||false||]
+chr1	35246297	rs1764405	A	G	.	PASS	FUNCOTATION=[GJB3|hg19|chr1|35246297|35246297|FIVE_PRIME_FLANK||SNP|A|A|G|g.chr1:35246297A>G|ENST00000373362.3|+||||||0.4763092269326683|AGGCTGGGGCACTGCAGGCTT|GJB3_ENST00000373366.2_FIVE_PRIME_FLANK/RP1-34M23.5_ENST00000542839.1_RNA/AL121988.1_ENST00000401343.1_FIVE_PRIME_FLANK|||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||false|false||false|false|||false|false|false||false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|||false|false||false||false||false|false|false||false|||false||]
 chr1	35253376	rs483721	C	T	.	PASS	FUNCOTATION=[RP1-34M23.5|hg19|chr1|35253376|35253376|RNA||SNP|C|C|T|g.chr1:35253376C>T|ENST00000542839.1|-|||c.e1-213G>A|||0.5386533665835411|ACAGGGAATACGGTCAGCATG||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||false|false||false|false|||false|false|false||false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|||false|false||false||false||false|false|false||false|||false||]
 chr1	35444037	rs4072108	T	C	.	PASS	FUNCOTATION=[RP11-244H3.1|hg19|chr1|35444037|35444037|RNA||SNP|T|T|C|g.chr1:35444037T>C|ENST00000417456.1|-|||c.e2+1034A>G|||0.4513715710723192|TCTGGGCATATTCCTACCCTC||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||false|false||false|false|||false|false|false||false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|||false|false||false||false||false|false|false||false|||false||]
-chr1	35497529	kgp11705169	G	A	.	PASS	FUNCOTATION=[ZMYM6|hg19|chr1|35497529|35497529|FIVE_PRIME_UTR||SNP|G|G|A|g.chr1:35497529G>A|ENST00000357182.4|-|1|||||0.5685785536159601|CCAACGCAACGACCGGCCAAC|ZMYM6_ENST00000373340.2_FIVE_PRIME_UTR/ZMYM6_ENST00000317538.5_FIVE_PRIME_FLANK/ZMYM6_ENST00000373333.1_FIVE_PRIME_FLANK/ZMYM6_ENST00000493328.1_FIVE_PRIME_FLANK|||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||false|false||false|false|||false|false|false||false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|||false|false||false||false||false|false|false||false|||false||]
+chr1	35497529	kgp11705169	G	A	.	PASS	FUNCOTATION=[ZMYM6|hg19|chr1|35497529|35497529|FIVE_PRIME_UTR||SNP|G|G|A|g.chr1:35497529G>A|ENST00000357182.4|-|1|||||0.5685785536159601|CCAACGCAACGACCGGCCAAC|ZMYM6_ENST00000373340.2_FIVE_PRIME_UTR/ZMYM6_ENST00000317538.5_FIVE_PRIME_FLANK/ZMYM6_ENST00000373333.1_FIVE_PRIME_FLANK/ZMYM6_ENST00000487874.1_FIVE_PRIME_FLANK/ZMYM6_ENST00000493328.1_FIVE_PRIME_FLANK|||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||false|false||false|false|||false|false|false||false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|||false|false||false||false||false|false|false||false|||false||]
 chr1	35854642	indel.2376	TG	T	.	PASS	FUNCOTATION=[ZMYM4|hg19|chr1|35854643|35854643|FRAME_SHIFT_DEL||DEL|G|G|-|g.chr1:35854643delG|ENST00000314607.6|+|14|2475|c.2396delG|c.(2395-2397)tgtfs|p.C799fs|0.29925187032418954|GAGTTCTGTTGTGAAGAATGC|ZMYM4_ENST00000373297.2_FRAME_SHIFT_DEL_p.C710fs|||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||false|false||false|false|||false|false|false||false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|||false|false||false||false||false|false|false||false|||false||]
 chr1	36291074	indel.2402	CA	C	.	PASS	FUNCOTATION=[AGO4|hg19|chr1|36291075|36291075|FRAME_SHIFT_DEL||DEL|A|A|-|g.chr1:36291075delA|ENST00000373210.3|+|4|712|c.468delA|c.(466-468)acafs|p.R157fs|0.3915211970074813|ATGTTATCACAAGACACCTTC||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||false|false||false|false|||false|false|false||false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|||false|false||false||false||false|false|false||false|||false||]
 chr1	36558985	exm44727	T	G	.	PASS	FUNCOTATION=[ADPRHL2|hg19|chr1|36558985|36558985|NONSTOP||SNP|T|T|G|g.chr1:36558985T>G|ENST00000373178.4|+|6|1120|c.1090T>G|c.(1090-1092)Tga>Gga|p.*364G|0.571072319201995|CCAGAAGAGTTGATGAGGGCT||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||true|false|0.9998_%2C_0.0001997|false|false|0||false|false|false|ADPRHL2:54936|false|true|false|true|true|false|false|false|false|false|false|false|false|false|false|false|false|false|false|true|183554661|36558985|false|false|0|false|0|false|0.999966_%2C_3.4343e-005|false|false|false|SNV|true|0x050000000205040436000100|1|false|135|rs183554661]
 chr1	36789546	rs12116935	A	G	.	PASS	FUNCOTATION=[RP11-268J15.5|hg19|chr1|36789546|36789546|FIVE_PRIME_UTR||SNP|A|A|G|g.chr1:36789546A>G|ENST00000373137.2|+|1|||||0.5935162094763092|CGCAGATCAAATAAACGGAGT|EVA1B_ENST00000270824.1_FIVE_PRIME_UTR/EVA1B_ENST00000490466.1_FIVE_PRIME_FLANK/SH3D21_ENST00000474766.1_INTRON|||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||false|false||false|false|||false|false|false||false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|||false|false||false||false||false|false|false||false|||false||]
 chr1	36929988	rs3806289	T	C	.	PASS	FUNCOTATION=[MRPS15|hg19|chr1|36929988|36929988|FIVE_PRIME_UTR||SNP|T|T|C|g.chr1:36929988T>C|ENST00000373116.5|-|1|||||0.6384039900249376|ATCGAGGCAGTTGCAATACCG|MRPS15_ENST00000488606.1_FIVE_PRIME_FLANK|||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||false|false||false|false|||false|false|false||false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|||false|false||false||false||false|false|false||false|||false||]
 chr1	37922859	rs2660569	C	T	.	PASS	FUNCOTATION=[RP11-422J8.1|hg19|chr1|37922859|37922859|RNA||SNP|C|C|T|g.chr1:37922859C>T|ENST00000424989.1|-|||c.e2+799G>A|||0.46384039900249374|TCATCTCATCCGCTTTAGGGG||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||false|false||false|false|||false|false|false||false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|||false|false||false||false||false|false|false||false|||false||]
-chr1	37939094	rs6681785	C	T	.	PASS	FUNCOTATION=[RP11-422J8.1|hg19|chr1|37939094|37939094|RNA||SNP|C|C|T|g.chr1:37939094C>T|ENST00000424989.1|-|||c.e1-651G>A|||0.44139650872817954|TCTGTGTTTTCTCTCTCTCTC||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||false|false||false|false|||false|false|false||false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|||false|false||false||false||false|false|false||false|||false||]
-chr1	37939173	rs2492301	T	C	.	PASS	FUNCOTATION=[RP11-422J8.1|hg19|chr1|37939173|37939173|RNA||SNP|T|T|C|g.chr1:37939173T>C|ENST00000424989.1|-|||c.e1-572A>G|||0.49625935162094764|CTGCCCTCAGTCACTCGTGGT||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||false|false||false|false|||false|false|false||false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|||false|false||false||false||false|false|false||false|||false||]
-chr1	38456106	rs4072980	G	A	.	PASS	FUNCOTATION=[SF3A3|hg19|chr1|38456106|38456106|FIVE_PRIME_UTR||SNP|G|G|A|g.chr1:38456106G>A|ENST00000373019.4|-|1|||||0.5386533665835411|AGGAAAATGGGAATAGTGGGG|SF3A3_ENST00000448721.2_FIVE_PRIME_FLANK/SF3A3_ENST00000489537.1_FIVE_PRIME_FLANK|||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||false|false||false|false|||false|false|false||false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|||false|false||false||false||false|false|false||false|||false||]
+chr1	37939094	rs6681785	C	T	.	PASS	FUNCOTATION=[ZC3H12A|hg19|chr1|37939094|37939094|FIVE_PRIME_FLANK||SNP|C|C|T|g.chr1:37939094C>T|ENST00000373087.6|+||||||0.44139650872817954|TCTGTGTTTTCTCTCTCTCTC|RP11-422J8.1_ENST00000424989.1_RNA|||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||false|false||false|false|||false|false|false||false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|||false|false||false||false||false|false|false||false|||false||]
+chr1	37939173	rs2492301	T	C	.	PASS	FUNCOTATION=[ZC3H12A|hg19|chr1|37939173|37939173|FIVE_PRIME_FLANK||SNP|T|T|C|g.chr1:37939173T>C|ENST00000373087.6|+||||||0.49625935162094764|CTGCCCTCAGTCACTCGTGGT|RP11-422J8.1_ENST00000424989.1_RNA|||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||false|false||false|false|||false|false|false||false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|||false|false||false||false||false|false|false||false|||false||]
+chr1	38456106	rs4072980	G	A	.	PASS	FUNCOTATION=[SF3A3|hg19|chr1|38456106|38456106|FIVE_PRIME_UTR||SNP|G|G|A|g.chr1:38456106G>A|ENST00000373019.4|-|1|||||0.5386533665835411|AGGAAAATGGGAATAGTGGGG|SF3A3_ENST00000448721.2_FIVE_PRIME_FLANK/SF3A3_ENST00000489537.1_FIVE_PRIME_FLANK/RNU6-510P_ENST00000391239.1_FIVE_PRIME_FLANK|||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||false|false||false|false|||false|false|false||false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|||false|false||false||false||false|false|false||false|||false||]
 chr1	39305315	indel.2566	AC	A	.	PASS	FUNCOTATION=[RRAGC|hg19|chr1|39305316|39305316|FRAME_SHIFT_DEL||DEL|C|C|-|g.chr1:39305316delC|ENST00000373001.3|-|7|1287|c.1109delG|c.(1108-1110)ggtfs|p.G370fs|0.4688279301745636|AGAAGTCACACCCACCTCAAA|RRAGC_ENST00000474456.1_INTRON|||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||false|false||false|false|||false|false|false||false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|||false|false||false||false||false|false|false||false|||false||]
-chr1	39350742	rs4970633	C	T	.	PASS	FUNCOTATION=[RP5-864K19.4|hg19|chr1|39350742|39350742|RNA||SNP|C|C|T|g.chr1:39350742C>T|ENST00000433671.2|+|||c.e2+9052C>T|||0.32917705735660846|CTATATCTAACTAAGTGTATA||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||false|false||false|false|||false|false|false||false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|||false|false||false||false||false|false|false||false|||false||]
+chr1	39350742	rs4970633	C	T	.	PASS	FUNCOTATION=[GJA9|hg19|chr1|39350742|39350742|FIVE_PRIME_FLANK||SNP|C|C|T|g.chr1:39350742C>T|ENST00000357771.3|-||||||0.32917705735660846|CTATATCTAACTAAGTGTATA|GJA9_ENST00000454994.2_FIVE_PRIME_FLANK/MYCBP_ENST00000489803.1_FIVE_PRIME_FLANK/RP5-864K19.4_ENST00000433671.2_RNA|||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||false|false||false|false|||false|false|false||false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|||false|false||false||false||false|false|false||false|||false||]
 chr1	39797335	indel.2587	AT	A	.	PASS	FUNCOTATION=[MACF1|hg19|chr1|39797336|39797336|FRAME_SHIFT_DEL||DEL|T|T|-|g.chr1:39797336delT|ENST00000372915.3|+|36|5177|c.5091delT|c.(5089-5091)tatfs|p.R1699fs|0.44139650872817954|TAGAGTCTTATCTTAGAACAT|MACF1_ENST00000567887.1_FRAME_SHIFT_DEL_p.R1731fs/MACF1_ENST00000564288.1_FRAME_SHIFT_DEL_p.R1694fs/MACF1_ENST00000289893.4_FRAME_SHIFT_DEL_p.R134fs/MACF1_ENST00000361689.2_INTRON/MACF1_ENST00000545844.1_INTRON/MACF1_ENST00000317713.7_INTRON/MACF1_ENST00000539005.1_INTRON/MACF1_ENST00000476350.1_INTRON|||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||false|false||false|false|||false|false|false||false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|||false|false||false||false||false|false|false||false|||false||]
 chr1	39800498	indel.2592	TG	T	.	PASS	FUNCOTATION=[MACF1|hg19|chr1|39800499|39800499|FRAME_SHIFT_DEL||DEL|G|G|-|g.chr1:39800499delG|ENST00000372915.3|+|36|8340|c.8254delG|c.(8254-8256)gagfs|p.E2752fs|0.38902743142144636|AGAAGCTATTGAGAAAAGACT|MACF1_ENST00000567887.1_FRAME_SHIFT_DEL_p.E2784fs/MACF1_ENST00000564288.1_FRAME_SHIFT_DEL_p.E2747fs/MACF1_ENST00000289893.4_FRAME_SHIFT_DEL_p.E1187fs/MACF1_ENST00000361689.2_INTRON/MACF1_ENST00000545844.1_INTRON/MACF1_ENST00000317713.7_INTRON/MACF1_ENST00000539005.1_INTRON/MACF1_ENST00000476350.1_INTRON|||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||false|false||false|false|||false|false|false||false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|||false|false||false||false||false|false|false||false|||false||]
 chr1	39806577	indel.2597	CA	C	.	PASS	FUNCOTATION=[MACF1|hg19|chr1|39806578|39806578|FRAME_SHIFT_DEL||DEL|A|A|-|g.chr1:39806578delA|ENST00000372915.3|+|39|10635|c.10549delA|c.(10549-10551)agtfs|p.S3517fs|0.3915211970074813|GGGATCTAACAGTGAAATAGA|MACF1_ENST00000567887.1_FRAME_SHIFT_DEL_p.S3549fs/MACF1_ENST00000564288.1_FRAME_SHIFT_DEL_p.S3512fs/MACF1_ENST00000289893.4_FRAME_SHIFT_DEL_p.S1952fs/MACF1_ENST00000361689.2_INTRON/MACF1_ENST00000545844.1_INTRON/MACF1_ENST00000317713.7_INTRON/MACF1_ENST00000539005.1_INTRON/MACF1_ENST00000476350.1_INTRON|||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||false|false||false|false|||false|false|false||false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|||false|false||false||false||false|false|false||false|||false||]
@@ -1169,7 +1169,7 @@ chr1	40546155	exm48877	C	T	.	PASS	FUNCOTATION=[PPT1|hg19|chr1|40546155|40546155|
 chr1	40546155	newrs148412181	C	T	.	PASS	FUNCOTATION=[PPT1|hg19|chr1|40546155|40546155|FIVE_PRIME_UTR||SNP|C|C|T|g.chr1:40546155C>T|ENST00000530076.1|-|2|||||0.5012468827930174|TCGGCTTGCACGAGGCTGTAG|PPT1_ENST00000433473.3_MISSENSE_p.V181M/PPT1_ENST00000449045.2_MISSENSE_p.V78M/PPT1_ENST00000372775.2_FIVE_PRIME_FLANK|||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||false|false||false|false|||false|false|false||false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|||false|false||false||false||false|false|false||false|||false||]
 chr1	40547950	rs3131660	C	T	.	PASS	FUNCOTATION=[PPT1|hg19|chr1|40547950|40547950|FIVE_PRIME_UTR||SNP|C|C|T|g.chr1:40547950C>T|ENST00000530076.1|-|1|||||0.4513715710723192|ACAGAGCCAGCTACGTCAGAG|PPT1_ENST00000433473.3_INTRON/PPT1_ENST00000449045.2_INTRON/PPT1_ENST00000372775.2_FIVE_PRIME_FLANK|||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||false|false||false|false|||false|false|false||false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|||false|false||false||false||false|false|false||false|||false||]
 chr1	40717196	var_1_40717196	CT	C	.	PASS	FUNCOTATION=[TMCO2|hg19|chr1|40717197|40717197|FRAME_SHIFT_DEL||DEL|T|T|-|g.chr1:40717197delT|ENST00000372766.3|+|2|572|c.480delT|c.(478-480)tctfs|p.E161fs|0.43640897755610975|ATTGCTCCTCTGAGCCCTACT|TMCO2_ENST00000468258.1_INTRON|||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||false|false||false|false|||false|false|false||false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|||false|false||false||false||false|false|false||false|||false||]
-chr1	40722795	rs926830	G	A	.	PASS	FUNCOTATION=[RP1-39G22.7|hg19|chr1|40722795|40722795|RNA||SNP|G|G|A|g.chr1:40722795G>A|ENST00000567508.1|-|||c.e1+696C>T|||0.3092269326683292|GCAGGGTTGAGAAATTCAAGA||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||false|false||false|false|||false|false|false||false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|||false|false||false||false||false|false|false||false|||false||]
+chr1	40722795	rs926830	G	A	.	PASS	FUNCOTATION=[ZMPSTE24|hg19|chr1|40722795|40722795|FIVE_PRIME_FLANK||SNP|G|G|A|g.chr1:40722795G>A|ENST00000372759.3|+||||||0.3092269326683292|GCAGGGTTGAGAAATTCAAGA|ZMPSTE24_ENST00000479131.1_FIVE_PRIME_FLANK/RP1-39G22.7_ENST00000567508.1_RNA|||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||false|false||false|false|||false|false|false||false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|||false|false||false||false||false|false|false||false|||false||]
 chr1	40930624	rs2982502	A	G	.	PASS	FUNCOTATION=[RP1-228H13.5|hg19|chr1|40930624|40930624|RNA||SNP|A|A|G|g.chr1:40930624A>G|ENST00000565390.1|+|||c.e1+633A>G|||0.43640897755610975|CCTTGGCACTACCAATATTTT||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||false|false||false|false|||false|false|false||false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|||false|false||false||false||false|false|false||false|||false||]
 chr1	40961344	indel.2695	TA	T	.	PASS	FUNCOTATION=[ZFP69|hg19|chr1|40961345|40961345|FRAME_SHIFT_DEL||DEL|A|A|-|g.chr1:40961345delA|ENST00000372706.1|+|6|2200|c.1195delA|c.(1195-1197)agtfs|p.S399fs|0.4114713216957606|TAGACACCTTAGTGAACATAT|ZFP69_ENST00000372705.3_FRAME_SHIFT_DEL_p.S399fs/RP11-656D10.3_ENST00000450713.1_RNA|||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||false|false||false|false|||false|false|false||false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|||false|false||false||false||false|false|false||false|||false||]
 chr1	40966167	rs7511983	C	T	.	PASS	FUNCOTATION=[RP11-656D10.3|hg19|chr1|40966167|40966167|RNA||SNP|C|C|T|g.chr1:40966167C>T|ENST00000450713.1|-|||c.e2+6807G>A|||0.428927680798005|AGGTCAGGTGCCAACCCTTAA||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||false|false||false|false|||false|false|false||false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|||false|false||false||false||false|false|false||false|||false||]
@@ -1181,14 +1181,14 @@ chr1	41461696	indel.2730	GC	G	.	PASS	FUNCOTATION=[CTPS1|hg19|chr1|41461697|41461
 chr1	42094498	rs2038976	A	G	.	PASS	FUNCOTATION=[HIVEP3|hg19|chr1|42094498|42094498|FIVE_PRIME_UTR||SNP|A|A|G|g.chr1:42094498A>G|ENST00000372583.1|-|3|||||0.5112219451371571|GTCCACTCCTACGGCAGCCAC|HIVEP3_ENST00000247584.5_FIVE_PRIME_UTR/HIVEP3_ENST00000372584.1_FIVE_PRIME_UTR/HIVEP3_ENST00000429157.2_FIVE_PRIME_UTR|||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||false|false||false|false|||false|false|false||false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|||false|false||false||false||false|false|false||false|||false||]
 chr1	43004894	indel.2772	CA	C	.	PASS	FUNCOTATION=[CCDC30|hg19|chr1|43004895|43004895|FRAME_SHIFT_DEL||DEL|A|A|-|g.chr1:43004895delA|ENST00000340612.4|+|2|168|c.169delA|c.(169-171)aatfs|p.N57fs|0.30673316708229426|TGAAGTTCACAATCTTCCAGG|CCDC30_ENST00000507855.1_INTRON/CCDC30_ENST00000428554.2_FRAME_SHIFT_DEL_p.N57fs/CCDC30_ENST00000342022.4_FRAME_SHIFT_DEL_p.N57fs/CCDC30_ENST00000390640.4_FIVE_PRIME_FLANK|||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||false|false||false|false|||false|false|false||false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|||false|false||false||false||false|false|false||false|||false||]
 chr1	43021827	indel.2775	TC	T	.	PASS	FUNCOTATION=[CCDC30|hg19|chr1|43021828|43021828|SPLICE_SITE|FRAME_SHIFT_DEL|DEL|C|C|-|g.chr1:43021828delC|ENST00000340612.4|+|4|426|c.427delC|c.(427-429)cccfs|p.K144fs|0.38902743142144636|TGCACCAAGTCCCAAATTAGG|CCDC30_ENST00000507855.1_INTRON/CCDC30_ENST00000428554.2_SPLICE_SITE_p.K144fs/CCDC30_ENST00000342022.4_SPLICE_SITE_p.K144fs/CCDC30_ENST00000390640.4_INTRON|||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||false|false||false|false|||false|false|false||false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|||false|false||false||false||false|false|false||false|||false||]
-chr1	43232984	exm51112	T	C	.	PASS	FUNCOTATION=[C1orf50|hg19|chr1|43232984|43232984|START_CODON_SNP||SNP|T|T|C|g.chr1:43232984T>C|ENST00000372525.5|+|1|45|c.2T>C|c.(1-3)aTg>aCg|p.M1T|0.6957605985037406|GGCGCTGTCATGGAGGACGCC|C1orf50_ENST00000536543.1_THREE_PRIME_UTR/C1orf50_ENST00000468913.2_FIVE_PRIME_FLANK|||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||true|false|0.9996_%2C_._%2C_0.0003994|false|false|0||false|false|false|P3H1:64175_%7C_C1orf50:79078|false|true|false|true|true|false|false|false|false|false|false|true|false|false|false|false|false|false|true|true|200116115|43232984|false|false|0|false|0|false|0.999622_%2C_0.000171715_%2C_0.000206058|false|false|false|SNV|true|0x050000020a05040436000100|1|false|137|rs200116115]
+chr1	43232984	exm51112	T	C	.	PASS	FUNCOTATION=[C1orf50|hg19|chr1|43232984|43232984|START_CODON_SNP||SNP|T|T|C|g.chr1:43232984T>C|ENST00000372525.5|+|1|45|c.2T>C|c.(1-3)aTg>aCg|p.M1T|0.6957605985037406|GGCGCTGTCATGGAGGACGCC|C1orf50_ENST00000536543.1_THREE_PRIME_UTR/LEPRE1_ENST00000236040.4_FIVE_PRIME_FLANK/LEPRE1_ENST00000296388.5_FIVE_PRIME_FLANK/LEPRE1_ENST00000397054.3_FIVE_PRIME_FLANK/C1orf50_ENST00000468913.2_FIVE_PRIME_FLANK|||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||true|false|0.9996_%2C_._%2C_0.0003994|false|false|0||false|false|false|P3H1:64175_%7C_C1orf50:79078|false|true|false|true|true|false|false|false|false|false|false|true|false|false|false|false|false|false|true|true|200116115|43232984|false|false|0|false|0|false|0.999622_%2C_0.000171715_%2C_0.000206058|false|false|false|SNV|true|0x050000020a05040436000100|1|false|137|rs200116115]
 chr1	43610910	rs626842	T	G	.	PASS	FUNCOTATION=[FAM183A|hg19|chr1|43610910|43610910|FIVE_PRIME_UTR||SNP|T|T|G|g.chr1:43610910T>G|ENST00000410048.1|+|1|||||0.47880299251870323|TGCAGGGCCATTGACAGAGAA|FAM183A_ENST00000335282.4_FIVE_PRIME_FLANK/FAM183A_ENST00000409337.1_FIVE_PRIME_FLANK|||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||false|false||false|false|||false|false|false||false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|||false|false||false||false||false|false|false||false|||false||]
 chr1	43783609	indel.2866	CGGAA	C	.	PASS	FUNCOTATION=[TIE1|hg19|chr1|43783610|43783613|FRAME_SHIFT_DEL||DEL|GGAA|GGAA|-|g.chr1:43783610_43783613delGGAA|ENST00000372476.3|+|17|2867_2870|c.2789_2792delGGAA|c.(2788-2793)cggaaafs|p.R930fs|0.5668316831683168|GATTTTCTGCGGAAAAGCCGGGTC|TIE1_ENST00000433781.2_FRAME_SHIFT_DEL_p.R575fs/TIE1_ENST00000473014.1_INTRON|||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||false|false||false|false|||false|false|false||false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|||false|false||false||false||false|false|false||false|||false||]
-chr1	43854091	exm52079	C	G	.	PASS	FUNCOTATION=[MED8|hg19|chr1|43854091|43854091|FIVE_PRIME_UTR||SNP|C|C|G|g.chr1:43854091C>G|ENST00000372455.4|-|2|||||0.4837905236907731|CAAGCTGCTTCTCCTCTCTCT|MED8_ENST00000372457.4_MISSENSE_p.E5D/MED8_ENST00000290663.6_MISSENSE_p.E5D/RP1-92O14.6_ENST00000436713.1_RNA|||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||false|false||false|false|||false|false|false||false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|||false|false||false||false||false|false|false||false|||false||]
+chr1	43854091	exm52079	C	G	.	PASS	FUNCOTATION=[MED8|hg19|chr1|43854091|43854091|FIVE_PRIME_UTR||SNP|C|C|G|g.chr1:43854091C>G|ENST00000372455.4|-|2|||||0.4837905236907731|CAAGCTGCTTCTCCTCTCTCT|MED8_ENST00000372457.4_MISSENSE_p.E5D/MED8_ENST00000290663.6_MISSENSE_p.E5D/SZT2_ENST00000310739.4_FIVE_PRIME_FLANK/SZT2_ENST00000372450.4_FIVE_PRIME_FLANK/SZT2_ENST00000562955.1_FIVE_PRIME_FLANK/RP1-92O14.6_ENST00000436713.1_RNA|||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||false|false||false|false|||false|false|false||false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|||false|false||false||false||false|false|false||false|||false||]
 chr1	44445667	rs3762423	T	C	.	PASS	FUNCOTATION=[B4GALT2|hg19|chr1|44445667|44445667|FIVE_PRIME_UTR||SNP|T|T|C|g.chr1:44445667T>C|ENST00000356836.6|+|1|||||0.6384039900249376|GTGTGAGCTGTCTGAGAGTCT|B4GALT2_ENST00000372324.1_INTRON/B4GALT2_ENST00000434555.2_INTRON/B4GALT2_ENST00000309519.7_FIVE_PRIME_UTR/B4GALT2_ENST00000481924.1_FIVE_PRIME_FLANK|||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||false|false||false|false|||false|false|false||false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|||false|false||false||false||false|false|false||false|||false||]
 chr1	45205606	exm53931	T	A	.	PASS	FUNCOTATION=[KIF2C|hg19|chr1|45205606|45205606|START_CODON_SNP||SNP|T|T|A|g.chr1:45205606T>A|ENST00000372224.4|+|1|115|c.2T>A|c.(1-3)aTg>aAg|p.M1K|0.5835411471321695|ACTCTCCGAATGGCCATGGAC|KIF2C_ENST00000372218.4_START_CODON_SNP_p.M1K/KIF2C_ENST00000493027.1_INTRON|||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||false|false||false|false|||false|false|false||false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|||false|false||false||false||false|false|false||false|||false||]
-chr1	45241113	rs11211031	T	C	.	PASS	FUNCOTATION=[RPS8|hg19|chr1|45241113|45241113|FIVE_PRIME_UTR||SNP|T|T|C|g.chr1:45241113T>C|ENST00000396651.3|+|1|||||0.5985037406483791|GAGACCCTCCTAGGCTCGTGG|RPS8_ENST00000372209.3_FIVE_PRIME_FLANK/RPS8_ENST00000485390.1_FIVE_PRIME_FLANK/RP11-269F19.2_ENST00000428791.1_RNA|||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||false|false||false|false|||false|false|false||false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|||false|false||false||false||false|false|false||false|||false||]
-chr1	45477940	variant.3034	G	A	.	PASS	FUNCOTATION=[UROD|hg19|chr1|45477940|45477940|START_CODON_SNP||SNP|G|G|A|g.chr1:45477940G>A|ENST00000246337.4|+|1|122|c.3G>A|c.(1-3)atG>atA|p.M1I|0.543640897755611|AGCTGACCATGGAAGCGAATG|UROD_ENST00000494399.1_INTRON|||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||false|false||false|false|||false|false|false||false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|||false|false||false||false||false|false|false||false|||false||]
+chr1	45241113	rs11211031	T	C	.	PASS	FUNCOTATION=[RPS8|hg19|chr1|45241113|45241113|FIVE_PRIME_UTR||SNP|T|T|C|g.chr1:45241113T>C|ENST00000396651.3|+|1|||||0.5985037406483791|GAGACCCTCCTAGGCTCGTGG|RPS8_ENST00000372209.3_FIVE_PRIME_FLANK/RPS8_ENST00000485390.1_FIVE_PRIME_FLANK/RP11-269F19.2_ENST00000428791.1_RNA/SNORD46_ENST00000364043.1_FIVE_PRIME_FLANK/SNORD38A_ENST00000365161.1_FIVE_PRIME_FLANK/SNORD38B_ENST00000384690.1_FIVE_PRIME_FLANK/SNORD55_ENST00000581525.1_FIVE_PRIME_FLANK|||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||false|false||false|false|||false|false|false||false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|||false|false||false||false||false|false|false||false|||false||]
+chr1	45477940	variant.3034	G	A	.	PASS	FUNCOTATION=[UROD|hg19|chr1|45477940|45477940|START_CODON_SNP||SNP|G|G|A|g.chr1:45477940G>A|ENST00000246337.4|+|1|122|c.3G>A|c.(1-3)atG>atA|p.M1I|0.543640897755611|AGCTGACCATGGAAGCGAATG|HECTD3_ENST00000372168.3_FIVE_PRIME_FLANK/HECTD3_ENST00000372172.4_FIVE_PRIME_FLANK/UROD_ENST00000494399.1_INTRON|||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||false|false||false|false|||false|false|false||false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|||false|false||false||false||false|false|false||false|||false||]
 chr1	45965246	indel.3113	ATCCAGCTG	A	.	PASS	FUNCOTATION=[CCDC163P|hg19|chr1|45965247|45965254|FRAME_SHIFT_DEL||DEL|TCCAGCTG|TCCAGCTG|-|g.chr1:45965247_45965254delTCCAGCTG|ENST00000432082.1|-|1|401_408|c.28_35delCAGCTGGA|c.(28-36)cagctggatfs|p.Q10fs|0.5465686274509803|GAGAAGCACATCCAGCTGCTCAAACCAG|CCDC163P_ENST00000488405.2_FRAME_SHIFT_DEL_p.Q10fs/CCDC163P_ENST00000490551.3_FRAME_SHIFT_DEL_p.Q10fs/MMACHC_ENST00000401061.4_FIVE_PRIME_FLANK/CCDC163P_ENST00000502793.2_FIVE_PRIME_FLANK|||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||false|false||false|false|||false|false|false||false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|||false|false||false||false||false|false|false||false|||false||]
 chr1	45974886	exm55303	G	C	.	PASS	FUNCOTATION=[MMACHC|hg19|chr1|45974886|45974886|NONSTOP||SNP|G|G|C|g.chr1:45974886G>C|ENST00000401061.4|+|4|1128|c.848G>C|c.(847-849)tGa>tCa|p.*283S|0.5112219451371571|CCTGGCCCTTGATTTTCTCCC|MMACHC_ENST00000477188.1_FIVE_PRIME_FLANK|||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||true|false||false|false|||false|false|false|MMACHC:25974|false|true|false|true|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|true|201025783|45974886|false|false|0|false|0|false|0.999244_%2C_0.000240401_%2C_0.000515145|false|false|false|SNV|true|0x050000000205040416000100|1|false|137|rs201025783]
 chr1	46032295	var_1_46032295	GC	G	.	PASS	FUNCOTATION=[AKR1A1|hg19|chr1|46032296|46032296|FRAME_SHIFT_DEL||DEL|C|C|-|g.chr1:46032296delC|ENST00000372070.3|+|4|886|c.140delC|c.(139-141)gctfs|p.A47fs|0.5261845386533666|ATTGATTGTGCTGCTATCTAC|AKR1A1_ENST00000351829.4_FRAME_SHIFT_DEL_p.A47fs/AKR1A1_ENST00000471651.1_FRAME_SHIFT_DEL_p.A47fs/AKR1A1_ENST00000473038.1_FIVE_PRIME_FLANK|||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||false|false||false|false|||false|false|false||false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|||false|false||false||false||false|false|false||false|||false||]
@@ -1200,8 +1200,8 @@ chr1	46153203	rs3013595	G	A	.	PASS	FUNCOTATION=[TMEM69|hg19|chr1|46153203|461532
 chr1	46158964	indel.3168	CAT	C	.	PASS	FUNCOTATION=[TMEM69|hg19|chr1|46158965|46158966|FRAME_SHIFT_DEL||DEL|AT|AT|-|g.chr1:46158965_46158966delAT|ENST00000372025.4|+|3|1288_1289|c.132_133delAT|c.(130-135)ccatgtfs|p.C45fs|0.4129353233830846|ACTTTTCCCCATGTCCAAGGCC|TMEM69_ENST00000496366.1_INTRON|||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||false|false||false|false|||false|false|false||false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|||false|false||false||false||false|false|false||false|||false||]
 chr1	46159031	indel.3170	AT	A	.	PASS	FUNCOTATION=[TMEM69|hg19|chr1|46159032|46159032|FRAME_SHIFT_DEL||DEL|T|T|-|g.chr1:46159032delT|ENST00000372025.4|+|3|1355|c.199delT|c.(199-201)tccfs|p.S67fs|0.42144638403990026|CTATCATACATCCCCCTGCAG|TMEM69_ENST00000496366.1_INTRON|||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||false|false||false|false|||false|false|false||false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|||false|false||false||false||false|false|false||false|||false||]
 chr1	46543210	indel.3212	CT	C	.	PASS	FUNCOTATION=[PIK3R3|hg19|chr1|46543211|46543211|FRAME_SHIFT_DEL||DEL|T|T|-|g.chr1:46543211delT|ENST00000262741.5|-|3|981|c.290delA|c.(289-291)cagfs|p.Q97fs|0.3516209476309227|ATAATCTCCCTGCATTTTTGT|PIK3R3_ENST00000420542.1_FRAME_SHIFT_DEL_p.Q97fs/PIK3R3_ENST00000372006.1_FRAME_SHIFT_DEL_p.Q97fs/PIK3R3_ENST00000423209.1_FRAME_SHIFT_DEL_p.Q97fs/PIK3R3_ENST00000354242.4_FRAME_SHIFT_DEL_p.Q97fs/PIK3R3_ENST00000340332.6_FRAME_SHIFT_DEL_p.Q61fs/PIK3R3_ENST00000540385.1_FRAME_SHIFT_DEL_p.Q143fs|||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||false|false||false|false|||false|false|false||false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|||false|false||false||false||false|false|false||false|||false||]
-chr1	46598273	rs1707303	A	C	.	PASS	FUNCOTATION=[PIK3R3|hg19|chr1|46598273|46598273|FIVE_PRIME_UTR||SNP|A|A|C|g.chr1:46598273A>C|ENST00000262741.5|-|1|||||0.6708229426433915|AACCAACCCGACCGCACCAAC|PIK3R3_ENST00000420542.1_INTRON/PIK3R3_ENST00000372006.1_INTRON/PIK3R3_ENST00000423209.1_FIVE_PRIME_UTR/PIK3R3_ENST00000354242.4_INTRON/PIK3R3_ENST00000340332.6_INTRON/PIK3R3_ENST00000540385.1_INTRON|||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||false|false||false|false|||false|false|false||false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|||false|false||false||false||false|false|false||false|||false||]
-chr1	46646780	exm56088	A	G	.	PASS	FUNCOTATION=[TSPAN1|hg19|chr1|46646780|46646780|START_CODON_SNP||SNP|A|A|G|g.chr1:46646780A>G|ENST00000372003.1|+|3|465|c.1A>G|c.(1-3)Atg>Gtg|p.M1V|0.5187032418952618|AGGAGCCACCATGCAGTGCTT|PIK3R3_ENST00000540385.1_FIVE_PRIME_FLANK/TSPAN1_ENST00000498443.1_INTRON|||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||false|false||false|false|||false|false|false||false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|||false|false||false||false||false|false|false||false|||false||]
+chr1	46598273	rs1707303	A	C	.	PASS	FUNCOTATION=[PIK3R3|hg19|chr1|46598273|46598273|FIVE_PRIME_UTR||SNP|A|A|C|g.chr1:46598273A>C|ENST00000262741.5|-|1|||||0.6708229426433915|AACCAACCCGACCGCACCAAC|PIK3R3_ENST00000420542.1_INTRON/PIK3R3_ENST00000372006.1_INTRON/PIK3R3_ENST00000423209.1_FIVE_PRIME_UTR/PIK3R3_ENST00000354242.4_INTRON/PIK3R3_ENST00000340332.6_INTRON/PIK3R3_ENST00000540385.1_INTRON/RP4-533D7.5_ENST00000452785.2_FIVE_PRIME_FLANK|||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||false|false||false|false|||false|false|false||false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|||false|false||false||false||false|false|false||false|||false||]
+chr1	46646780	exm56088	A	G	.	PASS	FUNCOTATION=[TSPAN1|hg19|chr1|46646780|46646780|START_CODON_SNP||SNP|A|A|G|g.chr1:46646780A>G|ENST00000372003.1|+|3|465|c.1A>G|c.(1-3)Atg>Gtg|p.M1V|0.5187032418952618|AGGAGCCACCATGCAGTGCTT|PIK3R3_ENST00000540385.1_FIVE_PRIME_FLANK/TSPAN1_ENST00000498443.1_INTRON/RP11-322N21.2_ENST00000506599.1_FIVE_PRIME_FLANK|||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||false|false||false|false|||false|false|false||false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|||false|false||false||false||false|false|false||false|||false||]
 chr1	46826473	indel.3258	TG	T	.	PASS	FUNCOTATION=[NSUN4|hg19|chr1|46826474|46826474|FRAME_SHIFT_DEL||DEL|G|G|-|g.chr1:46826474delG|ENST00000474844.1|+|5|1501|c.852delG|c.(850-852)ttgfs|p.L284fs|0.4688279301745636|GACAGATATTGCCTGTGCTGC|NSUN4_ENST00000537428.1_FRAME_SHIFT_DEL_p.L235fs/NSUN4_ENST00000536062.1_FRAME_SHIFT_DEL_p.L235fs/NSUN4_ENST00000498008.1_INTRON|||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||false|false||false|false|||false|false|false||false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|||false|false||false||false||false|false|false||false|||false||]
 chr1	46905802	rs11211276	G	T	.	PASS	FUNCOTATION=[RP5-1109J22.1|hg19|chr1|46905802|46905802|RNA||SNP|G|G|T|g.chr1:46905802G>T|ENST00000429784.2|+|||c.e3-536G>T|||0.5187032418952618|CTGAAGTTGAGATTAGGTTTT||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||false|false||false|false|||false|false|false||false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|||false|false||false||false||false|false|false||false|||false||]
 chr1	47005597	psy_rs75939162	C	T	.	PASS	FUNCOTATION=[MKNK1-AS1|hg19|chr1|47005597|47005597|RNA||SNP|C|C|T|g.chr1:47005597C>T|ENST00000602433.1|+|||c.e2-1005C>T|||0.5586034912718204|CCTCTTGGCTCCAGATTCCTG||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||true|false|0.9918_%2C_0.008187|false|false|1||false|false|false|MKNK1-AS1:100507423|false|true|true|true|true|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|75939162|47005597|false|false|0|true|0|false|0.984271_%2C_0.0157291|false|false|false|SNV|true|0x050100080005040436000100|1|false|132|rs75939162]
@@ -1230,9 +1230,9 @@ chr1	52859335	indel.3466	GA	G	.	PASS	FUNCOTATION=[ORC1|hg19|chr1|52859336|528593
 chr1	53158510	indel.3481	CTTCCAAATAGTCCA	C	.	PASS	FUNCOTATION=[SELRC1|hg19|chr1|53158511|53158524|FRAME_SHIFT_DEL||DEL|TTCCAAATAGTCCA|TTCCAAATAGTCCA|-|g.chr1:53158511_53158524delTTCCAAATAGTCCA|ENST00000371538.3|-|2|176_189|c.122_135delTGGACTATTTGGAA|c.(121-138)gtggactatttggaagggfs|p.V41fs|0.5289855072463768|TCCGGATCCCTTCCAAATAGTCCACCAGCCGATA|SELRC1_ENST00000486918.1_INTRON|||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||false|false||false|false|||false|false|false||false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|||false|false||false||false||false|false|false||false|||false||]
 chr1	53163901	indel.3482	TC	T	.	PASS	FUNCOTATION=[SELRC1|hg19|chr1|53163902|53163902|FRAME_SHIFT_DEL||DEL|C|C|-|g.chr1:53163902delC|ENST00000371538.3|-|1|138|c.97delG|c.(97-99)gacfs|p.D33fs|0.6982543640897756|CCGTCCGGGTCCTTCTCGTGG|SELRC1_ENST00000486918.1_FIVE_PRIME_FLANK|||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||false|false||false|false|||false|false|false||false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|||false|false||false||false||false|false|false||false|||false||]
 chr1	53741391	exm60486	A	G	.	PASS	FUNCOTATION=[LRP8|hg19|chr1|53741391|53741391|FIVE_PRIME_UTR||SNP|A|A|G|g.chr1:53741391A>G|ENST00000465675.1|-|5|||||0.57356608478803|TCCCATCCCCACACTGGAACT|LRP8_ENST00000347547.2_INTRON/LRP8_ENST00000306052.6_SILENT_p.C306C/LRP8_ENST00000371454.2_SILENT_p.C306C/LRP8_ENST00000354412.3_SILENT_p.C177C|||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||false|false||false|false|||false|false|false||false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|||false|false||false||false||false|false|false||false|||false||]
-chr1	54354613	variant.3577	G	A	.	PASS	FUNCOTATION=[YIPF1|hg19|chr1|54354613|54354613|FIVE_PRIME_UTR||SNP|G|G|A|g.chr1:54354613G>A|ENST00000072644.1|-|3|||||0.38403990024937656|GCTGCCATTCGGCCAGTGAGT|YIPF1_ENST00000371399.1_INTRON/YIPF1_ENST00000539954.1_NONSENSE_p.R25*/YIPF1_ENST00000469457.1_INTRON|||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||false|false||false|false|||false|false|false||false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|||false|false||false||false||false|false|false||false|||false||]
-chr1	54354658	exm60875	T	G	.	PASS	FUNCOTATION=[YIPF1|hg19|chr1|54354658|54354658|FIVE_PRIME_UTR||SNP|T|T|G|g.chr1:54354658T>G|ENST00000072644.1|-|3|||||0.36658354114713215|ATTTGCAGGGTTCTAAAAGAA|YIPF1_ENST00000371399.1_INTRON/YIPF1_ENST00000539954.1_SPLICE_SITE_p.T10P/YIPF1_ENST00000469457.1_SPLICE_SITE|||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||false|false||false|false|||false|false|false||false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|||false|false||false||false||false|false|false||false|||false||]
-chr1	54354658	rs2294508	T	G	.	PASS	FUNCOTATION=[YIPF1|hg19|chr1|54354658|54354658|FIVE_PRIME_UTR||SNP|T|T|G|g.chr1:54354658T>G|ENST00000072644.1|-|3|||||0.36658354114713215|ATTTGCAGGGTTCTAAAAGAA|YIPF1_ENST00000371399.1_INTRON/YIPF1_ENST00000539954.1_SPLICE_SITE_p.T10P/YIPF1_ENST00000469457.1_SPLICE_SITE|||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||false|false||false|false|||false|false|false||false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|||false|false||false||false||false|false|false||false|||false||]
+chr1	54354613	variant.3577	G	A	.	PASS	FUNCOTATION=[YIPF1|hg19|chr1|54354613|54354613|FIVE_PRIME_UTR||SNP|G|G|A|g.chr1:54354613G>A|ENST00000072644.1|-|3|||||0.38403990024937656|GCTGCCATTCGGCCAGTGAGT|YIPF1_ENST00000371399.1_INTRON/YIPF1_ENST00000539954.1_NONSENSE_p.R25*/DIO1_ENST00000534069.1_FIVE_PRIME_FLANK/YIPF1_ENST00000469457.1_INTRON|||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||false|false||false|false|||false|false|false||false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|||false|false||false||false||false|false|false||false|||false||]
+chr1	54354658	exm60875	T	G	.	PASS	FUNCOTATION=[YIPF1|hg19|chr1|54354658|54354658|FIVE_PRIME_UTR||SNP|T|T|G|g.chr1:54354658T>G|ENST00000072644.1|-|3|||||0.36658354114713215|ATTTGCAGGGTTCTAAAAGAA|YIPF1_ENST00000371399.1_INTRON/YIPF1_ENST00000539954.1_SPLICE_SITE_p.T10P/DIO1_ENST00000534069.1_FIVE_PRIME_FLANK/YIPF1_ENST00000469457.1_SPLICE_SITE|||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||false|false||false|false|||false|false|false||false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|||false|false||false||false||false|false|false||false|||false||]
+chr1	54354658	rs2294508	T	G	.	PASS	FUNCOTATION=[YIPF1|hg19|chr1|54354658|54354658|FIVE_PRIME_UTR||SNP|T|T|G|g.chr1:54354658T>G|ENST00000072644.1|-|3|||||0.36658354114713215|ATTTGCAGGGTTCTAAAAGAA|YIPF1_ENST00000371399.1_INTRON/YIPF1_ENST00000539954.1_SPLICE_SITE_p.T10P/DIO1_ENST00000534069.1_FIVE_PRIME_FLANK/YIPF1_ENST00000469457.1_SPLICE_SITE|||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||false|false||false|false|||false|false|false||false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|||false|false||false||false||false|false|false||false|||false||]
 chr1	54433403	indel.3593	TC	T	.	PASS	FUNCOTATION=[LRRC42|hg19|chr1|54433404|54433404|FRAME_SHIFT_DEL||DEL|C|C|-|g.chr1:54433404delC|ENST00000371370.3|+|9|1599|c.1079delC|c.(1078-1080)tccfs|p.E361fs|0.46384039900249374|ATGAACTCTTCCGAGAAACTC|LRRC42_ENST00000319223.4_FRAME_SHIFT_DEL_p.E361fs/LRRC42_ENST00000477905.1_SPLICE_SITE|||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||false|false||false|false|||false|false|false||false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|||false|false||false||false||false|false|false||false|||false||]
 chr1	54637167	rs625643	T	C	.	PASS	FUNCOTATION=[AL357673.1|hg19|chr1|54637167|54637167|FIVE_PRIME_UTR||SNP|T|T|C|g.chr1:54637167T>C|ENST00000536061.1|-|1|||||0.5461346633416458|GAAGTGACGTTGGTAAACATG|RP11-446E24.4_ENST00000311841.7_INTRON/RP11-446E24.4_ENST00000525949.1_INTRON|||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||false|false||false|false|||false|false|false||false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|||false|false||false||false||false|false|false||false|||false||]
 chr1	55134545	indel.3666	CT	C	.	PASS	FUNCOTATION=[MROH7|hg19|chr1|55134546|55134546|FRAME_SHIFT_DEL||DEL|T|T|-|g.chr1:55134546delT|ENST00000421030.2|+|5|1609|c.1325delT|c.(1324-1326)cttfs|p.Q443fs|0.5586034912718204|GTCACCACCCTTCAGAAGAGC|MROH7_ENST00000395690.2_FRAME_SHIFT_DEL_p.Q443fs/MROH7_ENST00000409996.1_FRAME_SHIFT_DEL_p.Q11fs/MROH7_ENST00000339553.5_FRAME_SHIFT_DEL_p.Q443fs/MROH7_ENST00000545244.1_FRAME_SHIFT_DEL_p.Q11fs/MROH7_ENST00000454855.2_FIVE_PRIME_UTR/MROH7-TTC4_ENST00000414150.2_FRAME_SHIFT_DEL_p.Q443fs|||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||true|false||false|false|||false|false|false|MROH7:374977_%7C_MROH7-TTC4:100527960|false|true|false|false|false|false|false|false|false|false|true|false|false|false|false|false|false|false|false|true|772326202|55134546|false|false|0|false|0|false|0.999931_%2C_6.8686e-005|false|false|true|DIV|true|0x050000401205040402000200|1|false|144|rs772326202]
@@ -1248,19 +1248,19 @@ chr1	60491129	indel.3860	CA	C	.	PASS	FUNCOTATION=[C1orf87|hg19|chr1|60491130|604
 chr1	60503684	indel.3864	AC	A	.	PASS	FUNCOTATION=[C1orf87|hg19|chr1|60503685|60503685|FRAME_SHIFT_DEL||DEL|C|C|-|g.chr1:60503685delC|ENST00000371201.3|-|6|951|c.842delG|c.(841-843)agtfs|p.S281fs|0.3790523690773067|AGTGCCATGACTCTCAGTTTT|C1orf87_ENST00000450089.2_INTRON|||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||false|false||false|false|||false|false|false||false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|||false|false||false||false||false|false|false||false|||false||]
 chr1	62235087	indel.3867	GC	G	.	PASS	FUNCOTATION=[INADL|hg19|chr1|62235088|62235088|FRAME_SHIFT_DEL||DEL|C|C|-|g.chr1:62235088delC|ENST00000371158.2|+|5|631|c.518delC|c.(517-519)gcafs|p.A173fs|0.38902743142144636|GGGAGTGTAGCAGACAGGTGA|INADL_ENST00000316485.6_FRAME_SHIFT_DEL_p.A173fs|||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||false|false||false|false|||false|false|false||false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|||false|false||false||false||false|false|false||false|||false||]
 chr1	62586957	indel.3890	GA	G	.	PASS	FUNCOTATION=[INADL|hg19|chr1|62586958|62586958|FRAME_SHIFT_DEL||DEL|A|A|-|g.chr1:62586958delA|ENST00000371158.2|+|38|5109|c.4996delA|c.(4996-4998)aaafs|p.N1667fs|0.42643391521197005|TCCTTCCCAGAAAAATTCAGG|INADL_ENST00000472512.1_INTRON|||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||false|false||false|false|||false|false|false||false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|||false|false||false||false||false|false|false||false|||false||]
-chr1	62672471	indel.3900	CT	C	.	PASS	FUNCOTATION=[L1TD1|hg19|chr1|62672472|62672472|FRAME_SHIFT_DEL||DEL|T|T|-|g.chr1:62672472delT|ENST00000498273.1|+|3|466|c.172delT|c.(172-174)ttafs|p.L58fs|0.3516209476309227|GTTTAAGGTCTTAATGGAAAT||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||false|false||false|false|||false|false|false||false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|||false|false||false||false||false|false|false||false|||false||]
+chr1	62672471	indel.3900	CT	C	.	PASS	FUNCOTATION=[L1TD1|hg19|chr1|62672472|62672472|FRAME_SHIFT_DEL||DEL|T|T|-|g.chr1:62672472delT|ENST00000498273.1|+|3|466|c.172delT|c.(172-174)ttafs|p.L58fs|0.3516209476309227|GTTTAAGGTCTTAATGGAAAT|Y_RNA_ENST00000363304.1_FIVE_PRIME_FLANK|||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||false|false||false|false|||false|false|false||false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|||false|false||false||false||false|false|false||false|||false||]
 chr1	63282434	indel.3957	CA	C	.	PASS	FUNCOTATION=[ATG4C|hg19|chr1|63282435|63282435|FRAME_SHIFT_DEL||DEL|A|A|-|g.chr1:63282435delA|ENST00000317868.4|+|4|556|c.350delA|c.(349-351)cagfs|p.Q117fs|0.371571072319202|AGAACTGGCCAGATGCTCTTG|ATG4C_ENST00000371120.3_FRAME_SHIFT_DEL_p.Q117fs|||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||false|false||false|false|||false|false|false||false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|||false|false||false||false||false|false|false||false|||false||]
 chr1	63300482	indel.3964	CA	C	.	PASS	FUNCOTATION=[ATG4C|hg19|chr1|63300483|63300483|FRAME_SHIFT_DEL||DEL|A|A|-|g.chr1:63300483delA|ENST00000317868.4|+|9|1255|c.1049delA|c.(1048-1050)caafs|p.Q350fs|0.3341645885286783|CATTACTGCCAATCTTTTGTA|ATG4C_ENST00000371120.3_FRAME_SHIFT_DEL_p.Q350fs|||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||false|false||false|false|||false|false|false||false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|||false|false||false||false||false|false|false||false|||false||]
 chr1	63902553	indel.3980	TCC	T	.	PASS	FUNCOTATION=[ALG6|hg19|chr1|63902554|63902555|FRAME_SHIFT_DEL||DEL|CC|CC|-|g.chr1:63902554_63902555delCC|ENST00000263440.4|+|14|1600_1601|c.1393_1394delCC|c.(1393-1395)cctfs|p.P465fs|0.35572139303482586|ACTGGATCCTCCTCAGAAACTA|ALG6_ENST00000371108.4_FRAME_SHIFT_DEL_p.P463fs/ALG6_ENST00000494765.1_INTRON|||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||false|false||false|false|||false|false|false||false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|||false|false||false||false||false|false|false||false|||false||]
-chr1	63999793	indel.3992	CAA	C	.	PASS	FUNCOTATION=[EFCAB7|hg19|chr1|63999794|63999795|FRAME_SHIFT_DEL||DEL|AA|AA|-|g.chr1:63999794_63999795delAA|ENST00000371088.4|+|6|956_957|c.711_712delAA|c.(709-714)gcaaccfs|p.T238fs|0.32587064676616917|TACTGTCAGCAACCAGGAAGTT||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||false|false||false|false|||false|false|false||false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|||false|false||false||false||false|false|false||false|||false||]
+chr1	63999793	indel.3992	CAA	C	.	PASS	FUNCOTATION=[EFCAB7|hg19|chr1|63999794|63999795|FRAME_SHIFT_DEL||DEL|AA|AA|-|g.chr1:63999794_63999795delAA|ENST00000371088.4|+|6|956_957|c.711_712delAA|c.(709-714)gcaaccfs|p.T238fs|0.32587064676616917|TACTGTCAGCAACCAGGAAGTT|RN7SL488P_ENST00000585186.1_FIVE_PRIME_FLANK|||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||false|false||false|false|||false|false|false||false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|||false|false||false||false||false|false|false||false|||false||]
 chr1	64669794	indel.4009	TATAAG	T	.	PASS	FUNCOTATION=[UBE2U|hg19|chr1|64669795|64669799|SPLICE_SITE|FRAME_SHIFT_DEL|DEL|ATAAG|ATAAG|-|g.chr1:64669795_64669799delATAAG|ENST00000371076.3|+|1|305_309|c.62_66delATAAG|c.(61-66)tataagfs|p.Y21fs|0.3654320987654321|GAGAACAATTATAAGGTAAGTACTG||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||false|false||false|false|||false|false|false||false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|||false|false||false||false||false|false|false||false|||false||]
 chr1	64676467	var_1_64676467	AC	A	.	PASS	FUNCOTATION=[UBE2U|hg19|chr1|64676468|64676468|FRAME_SHIFT_DEL||DEL|C|C|-|g.chr1:64676468delC|ENST00000371076.3|+|4|528|c.285delC|c.(283-285)aacfs|p.P96fs|0.30423940149625933|TTTTGGACAACCCTGAGAAGT|UBE2U_ENST00000464349.1_FIVE_PRIME_FLANK|||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||false|false||false|false|||false|false|false||false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|||false|false||false||false||false|false|false||false|||false||]
-chr1	67288063	indel.4057	G	GCT	.	PASS	FUNCOTATION=[WDR78|hg19|chr1|67288063|67288064|FRAME_SHIFT_INS||INS|-|-|CT|g.chr1:67288063_67288064insCT|ENST00000371026.3|-|16|2533|c.2476_2477insAG|c.(2476-2478)actfs|p.T826fs|0.3275|TCCAAAACAGTAGGCATATT|WDR78_ENST00000431318.1_FRAME_SHIFT_INS_p.T539fs|||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||true|false||false|false|||false|false|false|WDR78:79819|false|true|false|false|false|false|false|false|false|false|true|false|false|false|false|false|false|false|false|true|754415129|67288063|false|false|0|false|0|false||false|false|false|DIV|false|0x050000001205000402000200|1|false|144|rs754415129]
+chr1	67288063	indel.4057	G	GCT	.	PASS	FUNCOTATION=[WDR78|hg19|chr1|67288063|67288064|FRAME_SHIFT_INS||INS|-|-|CT|g.chr1:67288063_67288064insCT|ENST00000371026.3|-|16|2533|c.2476_2477insAG|c.(2476-2478)actfs|p.T826fs|0.3275|TCCAAAACAGTAGGCATATT|WDR78_ENST00000431318.1_FRAME_SHIFT_INS_p.T539fs/RP11-342H21.2_ENST00000456389.1_FIVE_PRIME_FLANK|||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||true|false||false|false|||false|false|false|WDR78:79819|false|true|false|false|false|false|false|false|false|false|true|false|false|false|false|false|false|false|false|true|754415129|67288063|false|false|0|false|0|false||false|false|false|DIV|false|0x050000001205000402000200|1|false|144|rs754415129]
 chr1	67474834	indel.4082	TAA	T	.	PASS	FUNCOTATION=[SLC35D1|hg19|chr1|67474835|67474836|FRAME_SHIFT_DEL||DEL|AA|AA|-|g.chr1:67474835_67474836delAA|ENST00000235345.5|-|11|979_980|c.891_892delTT|c.(889-891)actfs|p.I299fs|0.26616915422885573|ATTCCAATATAAGTTATTAATA|SLC35D1_ENST00000506472.2_FRAME_SHIFT_DEL_p.I220fs|||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||false|false||false|false|||false|false|false||false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|||false|false||false||false||false|false|false||false|||false||]
 chr1	67773351	rs12142823	C	T	.	PASS	FUNCOTATION=[IL12RB2|hg19|chr1|67773351|67773351|DE_NOVO_START_OUT_FRAME||SNP|C|C|T|g.chr1:67773351C>T|ENST00000262345.1|+|1|||||0.6633416458852868|GTGGAAACCACGGGCGCCCGC|IL12RB2_ENST00000371000.1_DE_NOVO_START_OUT_FRAME/IL12RB2_ENST00000541374.1_FIVE_PRIME_FLANK/IL12RB2_ENST00000544434.1_FIVE_PRIME_FLANK|||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||true|false|0.8325_%2C_._%2C_0.1675|false|false|1||false|true|true|IL12RB2:3595|true|true|false|true|true|false|false|false|false|false|false|false|false|false|false|false|false|false|true|false|12142823|67773351|false|false|0|true|0|false|0.85727_%2C_6.8686e-005_%2C_0.142661|false|false|true|SNV|true|0x05010042000517053e000100|1|false|120|rs12142823]
 chr1	68564373	indel.4122	TC	T	.	PASS	FUNCOTATION=[WLS|hg19|chr1|68564374|68564374|FRAME_SHIFT_DEL||DEL|C|C|-|g.chr1:68564374delC|ENST00000354777.2|-|12|1820|c.1573delG|c.(1573-1575)gaafs|p.E525fs|0.3341645885286783|CTGAACAATTCTTGATAAAGT|WLS_ENST00000540432.1_FRAME_SHIFT_DEL_p.E527fs/GNG12-AS1_ENST00000420587.1_RNA/GNG12-AS1_ENST00000413628.1_RNA|||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||false|false||false|false|||false|false|false||false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|||false|false||false||false||false|false|false||false|||false||]
 chr1	68564392	indel.4123	CA	C	.	PASS	FUNCOTATION=[WLS|hg19|chr1|68564393|68564393|FRAME_SHIFT_DEL||DEL|A|A|-|g.chr1:68564393delA|ENST00000354777.2|-|12|1801|c.1554delT|c.(1552-1554)tttfs|p.F518fs|0.33915211970074816|GTTCCGAAACAAACAAAGCAC|WLS_ENST00000540432.1_FRAME_SHIFT_DEL_p.F520fs/GNG12-AS1_ENST00000420587.1_RNA/GNG12-AS1_ENST00000413628.1_RNA|||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||false|false||false|false|||false|false|false||false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|||false|false||false||false||false|false|false||false|||false||]
-chr1	70820699	indel.4171	GC	G	.	PASS	FUNCOTATION=[HHLA3|hg19|chr1|70820700|70820700|FRAME_SHIFT_DEL||DEL|C|C|-|g.chr1:70820700delC|ENST00000359875.5|+|1|205|c.66delC|c.(64-66)tgcfs|p.C22fs|0.5586034912718204|CAGAGGAATGCAGAATGACGC|HHLA3_ENST00000370940.5_FRAME_SHIFT_DEL_p.C22fs/HHLA3_ENST00000361764.4_FRAME_SHIFT_DEL_p.C22fs/HHLA3_ENST00000531950.1_FRAME_SHIFT_DEL_p.C22fs/HHLA3_ENST00000432224.1_FRAME_SHIFT_DEL_p.C22fs/HHLA3_ENST00000486110.1_INTRON|||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||false|false||false|false|||false|false|false||false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|||false|false||false||false||false|false|false||false|||false||]
+chr1	70820699	indel.4171	GC	G	.	PASS	FUNCOTATION=[HHLA3|hg19|chr1|70820700|70820700|FRAME_SHIFT_DEL||DEL|C|C|-|g.chr1:70820700delC|ENST00000359875.5|+|1|205|c.66delC|c.(64-66)tgcfs|p.C22fs|0.5586034912718204|CAGAGGAATGCAGAATGACGC|HHLA3_ENST00000370940.5_FRAME_SHIFT_DEL_p.C22fs/HHLA3_ENST00000361764.4_FRAME_SHIFT_DEL_p.C22fs/HHLA3_ENST00000531950.1_FRAME_SHIFT_DEL_p.C22fs/HHLA3_ENST00000432224.1_FRAME_SHIFT_DEL_p.C22fs/ANKRD13C_ENST00000262346.6_FIVE_PRIME_FLANK/ANKRD13C_ENST00000370944.4_FIVE_PRIME_FLANK/HHLA3_ENST00000486110.1_INTRON|||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||false|false||false|false|||false|false|false||false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|||false|false||false||false||false|false|false||false|||false||]
 chr1	70904381	indel.4182	AC	A	.	PASS	FUNCOTATION=[CTH|hg19|chr1|70904382|70904382|FRAME_SHIFT_DEL||DEL|C|C|-|g.chr1:70904382delC|ENST00000370938.3|+|11|1207|c.1064delC|c.(1063-1065)actfs|p.T355fs|0.38902743142144636|GCAATCATGACTCATGCATCA|CTH_ENST00000346806.2_FRAME_SHIFT_DEL_p.T311fs/CTH_ENST00000411986.2_FRAME_SHIFT_DEL_p.T323fs|||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||false|false||false|false|||false|false|false||false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|||false|false||false||false||false|false|false||false|||false||]
 chr1	71418631	indel.4185	TG	T	.	PASS	FUNCOTATION=[PTGER3|hg19|chr1|71418632|71418632|FRAME_SHIFT_DEL||DEL|G|G|-|g.chr1:71418632delG|ENST00000356595.4|-|4|1427|c.1215delC|c.(1213-1215)agcfs|p.S405fs|0.3740648379052369|ACACATTAATGCTGCTCACGA|PTGER3_ENST00000414819.1_THREE_PRIME_UTR/PTGER3_ENST00000370931.3_INTRON/PTGER3_ENST00000460330.1_INTRON/PTGER3_ENST00000370932.2_INTRON/PTGER3_ENST00000351052.5_INTRON/PTGER3_ENST00000354608.5_INTRON|||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||false|false||false|false|||false|false|false||false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|||false|false||false||false||false|false|false||false|||false||]
 chr1	74663709	rs11806946	G	A	.	PASS	FUNCOTATION=[LRRIQ3|hg19|chr1|74663709|74663709|FIVE_PRIME_UTR||SNP|G|G|A|g.chr1:74663709G>A|ENST00000370911.3|-|1|||||0.5635910224438903|GCCCTTATGAGTTGGAGACAA|LRRIQ3_ENST00000370909.2_FIVE_PRIME_UTR/LRRIQ3_ENST00000354431.4_FIVE_PRIME_UTR/TNNI3K_ENST00000370891.2_FIVE_PRIME_FLANK/FPGT-TNNI3K_ENST00000370893.1_FIVE_PRIME_FLANK/FPGT_ENST00000370894.5_FIVE_PRIME_FLANK/FPGT-TNNI3K_ENST00000370895.1_FIVE_PRIME_FLANK/FPGT_ENST00000370898.3_FIVE_PRIME_FLANK/FPGT-TNNI3K_ENST00000370899.3_FIVE_PRIME_FLANK/FPGT_ENST00000467578.2_FIVE_PRIME_FLANK/FPGT_ENST00000482102.2_FIVE_PRIME_FLANK/FPGT_ENST00000524915.1_FIVE_PRIME_FLANK/FPGT-TNNI3K_ENST00000533006.1_FIVE_PRIME_FLANK/FPGT_ENST00000534056.1_FIVE_PRIME_FLANK/FPGT-TNNI3K_ENST00000557284.2_FIVE_PRIME_FLANK/FPGT_ENST00000609362.1_FIVE_PRIME_FLANK|||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||false|false||false|false|||false|false|false||false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|||false|false||false||false||false|false|false||false|||false||]
@@ -1268,8 +1268,8 @@ chr1	74737317	indel.4219	TGGAGC	T	.	PASS	FUNCOTATION=[FPGT-TNNI3K|hg19|chr1|7473
 chr1	74835230	indel.4234	CAG	C	.	PASS	FUNCOTATION=[FPGT-TNNI3K|hg19|chr1|74835231|74835232|FRAME_SHIFT_DEL||DEL|AG|AG|-|g.chr1:74835231_74835232delAG|ENST00000370899.3|+|18|1968_1969|c.1932_1933delAG|c.(1930-1935)tcagggfs|p.G646fs|0.43034825870646765|AATACATATCAGGGGGTTCTCT|TNNI3K_ENST00000326637.3_FRAME_SHIFT_DEL_p.G545fs/FPGT-TNNI3K_ENST00000557284.2_FRAME_SHIFT_DEL_p.G659fs/FPGT-TNNI3K_ENST00000370895.1_FRAME_SHIFT_DEL_p.G646fs/TNNI3K_ENST00000370891.2_FRAME_SHIFT_DEL_p.G646fs/RP11-439H8.4_ENST00000415549.2_RNA|||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||true|false||false|false|||false|false|false|TNNI3K:51086_%7C_FPGT-TNNI3K:100526835|false|true|false|false|false|false|false|false|false|false|true|false|false|false|false|false|false|false|false|true|748927643|74835231|false|false|0|false|0|false||false|false|false|DIV|false|0x050000001205000402000200|1|false|144|rs748927643]
 chr1	75036872	indel.4252	CT	C	.	PASS	FUNCOTATION=[C1orf173|hg19|chr1|75036873|75036873|FRAME_SHIFT_DEL||DEL|T|T|-|g.chr1:75036873delT|ENST00000326665.5|-|14|4741|c.4521delA|c.(4519-4521)cgafs|p.E1508fs|0.5336658354114713|GTTGCTTCTCTCGGGTTTCAG|C1orf173_ENST00000433746.2_INTRON|||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||false|false||false|false|||false|false|false||false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|||false|false||false||false||false|false|false||false|||false||]
 chr1	75038572	var_1_75038572	TC	T	.	PASS	FUNCOTATION=[C1orf173|hg19|chr1|75038573|75038573|FRAME_SHIFT_DEL||DEL|C|C|-|g.chr1:75038573delC|ENST00000326665.5|-|14|3041|c.2821delG|c.(2821-2823)gatfs|p.D941fs|0.5336658354114713|TCTCCGACATCACTCACAGCC|C1orf173_ENST00000433746.2_INTRON|||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||false|false||false|false|||false|false|false||false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|||false|false||false||false||false|false|false||false|||false||]
-chr1	75198740	kgp9120456	A	C	.	PASS	FUNCOTATION=[CRYZ|hg19|chr1|75198740|75198740|FIVE_PRIME_UTR||SNP|A|A|C|g.chr1:75198740A>C|ENST00000417775.1|-|1|||||0.5311720698254364|TCCACCCAGGATGTGCGCCTC|CRYZ_ENST00000340866.5_FIVE_PRIME_FLANK/CRYZ_ENST00000370871.3_FIVE_PRIME_FLANK/CRYZ_ENST00000370872.3_FIVE_PRIME_FLANK|||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||false|false||false|false|||false|false|false||false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|||false|false||false||false||false|false|false||false|||false||]
-chr1	75198788	kgp15455600	C	A	.	PASS	FUNCOTATION=[CRYZ|hg19|chr1|75198788|75198788|FIVE_PRIME_UTR||SNP|C|C|A|g.chr1:75198788C>A|ENST00000417775.1|-|1|||||0.5336658354114713|CACCCCTAGGCGAAGGCACTA|CRYZ_ENST00000340866.5_FIVE_PRIME_FLANK/CRYZ_ENST00000370871.3_FIVE_PRIME_FLANK/CRYZ_ENST00000370872.3_FIVE_PRIME_FLANK|||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||false|false||false|false|||false|false|false||false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|||false|false||false||false||false|false|false||false|||false||]
+chr1	75198740	kgp9120456	A	C	.	PASS	FUNCOTATION=[CRYZ|hg19|chr1|75198740|75198740|FIVE_PRIME_UTR||SNP|A|A|C|g.chr1:75198740A>C|ENST00000417775.1|-|1|||||0.5311720698254364|TCCACCCAGGATGTGCGCCTC|CRYZ_ENST00000340866.5_FIVE_PRIME_FLANK/TYW3_ENST00000370867.3_FIVE_PRIME_FLANK/CRYZ_ENST00000370871.3_FIVE_PRIME_FLANK/CRYZ_ENST00000370872.3_FIVE_PRIME_FLANK/TYW3_ENST00000421739.2_FIVE_PRIME_FLANK/TYW3_ENST00000457880.2_FIVE_PRIME_FLANK/TYW3_ENST00000479111.1_FIVE_PRIME_FLANK|||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||false|false||false|false|||false|false|false||false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|||false|false||false||false||false|false|false||false|||false||]
+chr1	75198788	kgp15455600	C	A	.	PASS	FUNCOTATION=[CRYZ|hg19|chr1|75198788|75198788|FIVE_PRIME_UTR||SNP|C|C|A|g.chr1:75198788C>A|ENST00000417775.1|-|1|||||0.5336658354114713|CACCCCTAGGCGAAGGCACTA|CRYZ_ENST00000340866.5_FIVE_PRIME_FLANK/TYW3_ENST00000370867.3_FIVE_PRIME_FLANK/CRYZ_ENST00000370871.3_FIVE_PRIME_FLANK/CRYZ_ENST00000370872.3_FIVE_PRIME_FLANK/TYW3_ENST00000421739.2_FIVE_PRIME_FLANK/TYW3_ENST00000457880.2_FIVE_PRIME_FLANK/TYW3_ENST00000479111.1_FIVE_PRIME_FLANK|||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||false|false||false|false|||false|false|false||false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|||false|false||false||false||false|false|false||false|||false||]
 chr1	76200513	indel.4306	AG	A	.	PASS	FUNCOTATION=[ACADM|hg19|chr1|76200514|76200514|FRAME_SHIFT_DEL||DEL|G|G|-|g.chr1:76200514delG|ENST00000370834.5|+|7|603|c.525delG|c.(523-525)aagfs|p.K176fs|0.32418952618453867|ATCAACAAAAGAAGAAGTATT|ACADM_ENST00000420607.2_FRAME_SHIFT_DEL_p.K147fs/ACADM_ENST00000370841.4_FRAME_SHIFT_DEL_p.K143fs/ACADM_ENST00000541113.1_FRAME_SHIFT_DEL_p.K107fs/ACADM_ENST00000543667.1_INTRON|||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||false|false||false|false|||false|false|false||false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|||false|false||false||false||false|false|false||false|||false||]
 chr1	76226844	indel.4318	TG	T	.	PASS	FUNCOTATION=[ACADM|hg19|chr1|76226845|76226845|FRAME_SHIFT_DEL||DEL|G|G|-|g.chr1:76226845delG|ENST00000370834.5|+|12|1161|c.1083delG|c.(1081-1083)atgfs|p.M361fs|0.3940149625935162|AAATGGCAATGAAAGTTGAAC|ACADM_ENST00000420607.2_FRAME_SHIFT_DEL_p.M332fs/ACADM_ENST00000370841.4_FRAME_SHIFT_DEL_p.M328fs/ACADM_ENST00000541113.1_FRAME_SHIFT_DEL_p.M292fs/ACADM_ENST00000543667.1_FRAME_SHIFT_DEL_p.M139fs/ACADM_ENST00000481374.1_INTRON|||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||false|false||false|false|||false|false|false||false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|||false|false||false||false||false|false|false||false|||false||]
 chr1	76255706	indel.4325	CA	C	.	PASS	FUNCOTATION=[RABGGTB|hg19|chr1|76255707|76255707|FRAME_SHIFT_DEL||DEL|A|A|-|g.chr1:76255707delA|ENST00000319942.3|+|4|450|c.380delA|c.(379-381)cagfs|p.Q127fs|0.3516209476309227|AAAGGTCTACAGAAAGAAGAT|RABGGTB_ENST00000370826.3_FRAME_SHIFT_DEL_p.Q127fs/RABGGTB_ENST00000535300.1_FIVE_PRIME_UTR/RABGGTB_ENST00000496055.1_INTRON|||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||false|false||false|false|||false|false|false||false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|||false|false||false||false||false|false|false||false|||false||]
@@ -1277,7 +1277,7 @@ chr1	76260335	exm69323	G	C	.	PASS	FUNCOTATION=[RABGGTB|hg19|chr1|76260335|762603
 chr1	76349331	indel.4337	AG	A	.	PASS	FUNCOTATION=[MSH4|hg19|chr1|76349332|76349332|FRAME_SHIFT_DEL||DEL|G|G|-|g.chr1:76349332delG|ENST00000263187.3|+|15|2036|c.1933delG|c.(1933-1935)gcafs|p.A645fs|0.30673316708229426|TGATACTTTAGCAATCAAACA||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||false|false||false|false|||false|false|false||false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|||false|false||false||false||false|false|false||false|||false||]
 chr1	76397779	indel.4348	TA	T	.	PASS	FUNCOTATION=[ASB17|hg19|chr1|76397780|76397780|FRAME_SHIFT_DEL||DEL|A|A|-|g.chr1:76397780delA|ENST00000284142.6|-|1|338|c.197delT|c.(196-198)ctafs|p.L66fs|0.3740648379052369|ATCTGTGAGTAGTGCGTCAAA||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||false|false||false|false|||false|false|false||false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|||false|false||false||false||false|false|false||false|||false||]
 chr1	78207409	exm69937	C	T	.	PASS	FUNCOTATION=[USP33|hg19|chr1|78207409|78207409|FIVE_PRIME_UTR||SNP|C|C|T|g.chr1:78207409C>T|ENST00000370794.3|-|2|||||0.2743142144638404|TCCTGTTTCCCAAGACTTTCA|USP33_ENST00000370793.1_MISSENSE_p.G23R/USP33_ENST00000370792.3_MISSENSE_p.G23R/USP33_ENST00000357428.1_MISSENSE_p.G23R/USP33_ENST00000528150.1_INTRON|||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||false|false||false|false|||false|false|false||false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|||false|false||false||false||false|false|false||false|||false||]
-chr1	78245342	exm69939	T	G	.	PASS	FUNCOTATION=[FAM73A|hg19|chr1|78245342|78245342|START_CODON_SNP||SNP|T|T|G|g.chr1:78245342T>G|ENST00000370791.3|+|1|34|c.2T>G|c.(1-3)aTg>aGg|p.M1R|0.6059850374064838|GCCTTCTCCATGTCAGACTGC|FAM73A_ENST00000443751.2_START_CODON_SNP_p.M1R|||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||false|false||false|false|||false|false|false||false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|||false|false||false||false||false|false|false||false|||false||]
+chr1	78245342	exm69939	T	G	.	PASS	FUNCOTATION=[FAM73A|hg19|chr1|78245342|78245342|START_CODON_SNP||SNP|T|T|G|g.chr1:78245342T>G|ENST00000370791.3|+|1|34|c.2T>G|c.(1-3)aTg>aGg|p.M1R|0.6059850374064838|GCCTTCTCCATGTCAGACTGC|FAM73A_ENST00000443751.2_START_CODON_SNP_p.M1R/RNA5SP21_ENST00000410917.1_FIVE_PRIME_FLANK|||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||false|false||false|false|||false|false|false||false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|||false|false||false||false||false|false|false||false|||false||]
 chr1	78392430	indel.4380	AG	A	.	PASS	FUNCOTATION=[NEXN|hg19|chr1|78392431|78392431|FRAME_SHIFT_DEL||DEL|G|G|-|g.chr1:78392431delG|ENST00000334785.7|+|8|901|c.718delG|c.(718-720)gaafs|p.E240fs|0.33665835411471323|AGCAAAAAAAGAATCACTTTC|NEXN_ENST00000330010.8_FRAME_SHIFT_DEL_p.E176fs/NEXN_ENST00000457030.1_FRAME_SHIFT_DEL_p.E226fs/NEXN_ENST00000480732.2_FIVE_PRIME_FLANK|||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||false|false||false|false|||false|false|false||false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|||false|false||false||false||false|false|false||false|||false||]
 chr1	78546379	indel.4391	CA	C	.	PASS	FUNCOTATION=[GIPC2|hg19|chr1|78546380|78546380|FRAME_SHIFT_DEL||DEL|A|A|-|g.chr1:78546380delA|ENST00000370759.3|+|2|454|c.262delA|c.(262-264)acafs|p.T88fs|0.32418952618453867|CACTTTAAACACACCTAAAAT|GIPC2_ENST00000476882.1_INTRON|||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||false|false||false|false|||false|false|false||false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|||false|false||false||false||false|false|false||false|||false||]
 chr1	82302600	rs12064537	T	C	.	PASS	FUNCOTATION=[LPHN2|hg19|chr1|82302600|82302600|FIVE_PRIME_UTR||SNP|T|T|C|g.chr1:82302600T>C|ENST00000370728.1|+|5|||||0.341645885286783|GACTGATGGTTTTGATGAAGC|LPHN2_ENST00000370730.1_FIVE_PRIME_UTR/LPHN2_ENST00000370715.1_FIVE_PRIME_UTR/LPHN2_ENST00000319517.6_FIVE_PRIME_UTR/LPHN2_ENST00000370713.1_FIVE_PRIME_UTR/LPHN2_ENST00000370725.1_FIVE_PRIME_UTR/LPHN2_ENST00000370723.1_FIVE_PRIME_UTR/LPHN2_ENST00000370727.1_FIVE_PRIME_UTR/LPHN2_ENST00000370721.1_FIVE_PRIME_UTR/LPHN2_ENST00000359929.3_FIVE_PRIME_UTR/LPHN2_ENST00000370717.2_FIVE_PRIME_UTR/LPHN2_ENST00000394879.1_FIVE_PRIME_UTR/LPHN2_ENST00000271029.4_FIVE_PRIME_UTR/LPHN2_ENST00000335786.5_FIVE_PRIME_UTR/LPHN2_ENST00000469377.2_INTRON|||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||false|false||false|false|||false|false|false||false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|||false|false||false||false||false|false|false||false|||false||]
@@ -1291,7 +1291,7 @@ chr1	94344716	rs2235971	C	T	.	PASS	FUNCOTATION=[DNTTIP2|hg19|chr1|94344716|94344
 chr1	94697167	exm76553	T	C	.	PASS	FUNCOTATION=[ARHGAP29|hg19|chr1|94697167|94697167|START_CODON_SNP||SNP|T|T|C|g.chr1:94697167T>C|ENST00000260526.6|-|2|184|c.1A>G|c.(1-3)Atg>Gtg|p.M1V|0.3541147132169576|TGAGCAATCATCCTTTCATGT|ARHGAP29_ENST00000370217.3_START_CODON_SNP_p.M1V|||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||false|false||false|false|||false|false|false||false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|||false|false||false||false||false|false|false||false|||false||]
 chr1	100174455	exm1689665	T	C	.	PASS	FUNCOTATION=[FRRS1|hg19|chr1|100174455|100174455|NONSTOP||SNP|T|T|C|g.chr1:100174455T>C|ENST00000287474.5|-|17|2482|c.1880A>G|c.(1879-1881)tAg>tGg|p.*627W|0.36159600997506236|AGAATTCCTCTACAGACATGA|FRRS1_ENST00000414213.1_THREE_PRIME_UTR|||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||false|false||false|false|||false|false|false||false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|||false|false||false||false||false|false|false||false|||false||]
 chr1	101354386	newrs77649301	T	C	.	PASS	FUNCOTATION=[EXTL2|hg19|chr1|101354386|101354386|DE_NOVO_START_IN_FRAME||SNP|T|T|C|g.chr1:101354386T>C|ENST00000370113.3|-|2|||||0.30423940149625933|CACTTGTCACTATTAAGATAA|EXTL2_ENST00000370114.3_SPLICE_SITE/EXTL2_ENST00000535414.1_SPLICE_SITE/EXTL2_ENST00000480774.1_SPLICE_SITE|||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||false|false||false|false|||false|false|false||false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|||false|false||false||false||false|false|false||false|||false||]
-chr1	101361178	rs17123491	C	T	.	PASS	FUNCOTATION=[EXTL2|hg19|chr1|101361178|101361178|FIVE_PRIME_UTR||SNP|C|C|T|g.chr1:101361178C>T|ENST00000370114.3|-|1|||||0.5361596009975063|GGAATGGATTCCTAAGATTTG|EXTL2_ENST00000370113.3_FIVE_PRIME_FLANK/EXTL2_ENST00000480774.1_FIVE_PRIME_FLANK/EXTL2_ENST00000535414.1_FIVE_PRIME_FLANK|||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||false|false||false|false|||false|false|false||false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|||false|false||false||false||false|false|false||false|||false||]
+chr1	101361178	rs17123491	C	T	.	PASS	FUNCOTATION=[EXTL2|hg19|chr1|101361178|101361178|FIVE_PRIME_UTR||SNP|C|C|T|g.chr1:101361178C>T|ENST00000370114.3|-|1|||||0.5361596009975063|GGAATGGATTCCTAAGATTTG|SLC30A7_ENST00000357650.4_FIVE_PRIME_FLANK/SLC30A7_ENST00000370112.4_FIVE_PRIME_FLANK/EXTL2_ENST00000370113.3_FIVE_PRIME_FLANK/EXTL2_ENST00000480774.1_FIVE_PRIME_FLANK/EXTL2_ENST00000535414.1_FIVE_PRIME_FLANK|||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||false|false||false|false|||false|false|false||false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|||false|false||false||false||false|false|false||false|||false||]
 chr1	109289353	rs1124427	C	G	.	PASS	FUNCOTATION=[STXBP3|hg19|chr1|109289353|109289353|FIVE_PRIME_UTR||SNP|C|C|G|g.chr1:109289353C>G|ENST00000370008.3|+|1|||||0.6658354114713217|TCCGCAGTGTCGGGAAGATGG||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||false|false||false|false|||false|false|false||false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|||false|false||false||false||false|false|false||false|||false||]
 chr1	109633256	rs521734	C	G	.	PASS	FUNCOTATION=[TMEM167B|hg19|chr1|109633256|109633256|FIVE_PRIME_UTR||SNP|C|C|G|g.chr1:109633256C>G|ENST00000338272.8|+|1|||||0.571072319201995|CGGCCAAGTACGAAGCCTTCG|TMEM167B_ENST00000473828.1_FIVE_PRIME_FLANK/RP5-1065J22.8_ENST00000608574.1_RNA|||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||false|false||false|false|||false|false|false||false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|||false|false||false||false||false|false|false||false|||false||]
 chr1	110198727	kgp3155172	C	G	.	PASS	FUNCOTATION=[GSTM4|hg19|chr1|110198727|110198727|FIVE_PRIME_UTR||SNP|C|C|G|g.chr1:110198727C>G|ENST00000369836.4|+|1|||||0.6508728179551122|CCTCCTAGTGCTTCCGGACCT|GSTM4_ENST00000336075.5_FIVE_PRIME_UTR/GSTM4_ENST00000326729.5_FIVE_PRIME_FLANK/GSTM4_ENST00000369833.1_FIVE_PRIME_FLANK/GSTM4_ENST00000495742.1_FIVE_PRIME_FLANK|||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||false|false||false|false|||false|false|false||false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|||false|false||false||false||false|false|false||false|||false||]
@@ -1310,9 +1310,9 @@ chr1	111415841	rs1494324	G	A	.	PASS	FUNCOTATION=[CD53|hg19|chr1|111415841|111415
 chr1	112042574	exm83930	A	G	.	PASS	FUNCOTATION=[ADORA3|hg19|chr1|112042574|112042574|NONSTOP||SNP|A|A|G|g.chr1:112042574A>G|ENST00000241356.4|-|2|1361|c.955T>C|c.(955-957)Tag>Cag|p.*319Q|0.4538653366583541|ATGGATAACTACTCAGAATTC|ADORA3_ENST00000369716.4_INTRON/ADORA3_ENST00000369717.4_INTRON|||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||false|false||false|false|||false|false|false||false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|||false|false||false||false||false|false|false||false|||false||]
 chr1	113010195	exm84380	T	G	.	PASS	FUNCOTATION=[WNT2B|hg19|chr1|113010195|113010195|DE_NOVO_START_OUT_FRAME||SNP|T|T|G|g.chr1:113010195T>G|ENST00000256640.5|+|1|||||0.36658354114713215|CCATAAGCATTTTTGGAATTC|WNT2B_ENST00000369686.5_MISSENSE_p.I12M|||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||true|false|0.9998_%2C_0.0001997|false|false|0||false|false|false|WNT2B:7482|false|true|false|true|true|false|false|false|false|false|false|true|false|false|false|false|false|false|false|true|189656664|113010195|false|false|0|false|0|false|0.999966_%2C_3.4343e-005|false|false|true|SNV|true|0x050000400a05040436000100|1|false|135|rs189656664]
 chr1	113248791	rs12144044	C	A	.	PASS	FUNCOTATION=[RHOC|hg19|chr1|113248791|113248791|FIVE_PRIME_UTR||SNP|C|C|A|g.chr1:113248791C>A|ENST00000285735.2|-|2|||||0.5760598503740648|GACAGTGTGGCTACATCAGAC|RHOC_ENST00000339083.7_INTRON/RHOC_ENST00000369642.3_INTRON/RHOC_ENST00000369633.2_INTRON/RHOC_ENST00000369638.2_INTRON/RHOC_ENST00000369632.2_INTRON/RHOC_ENST00000369637.1_INTRON/RP11-426L16.10_ENST00000606505.1_INTRON/RHOC_ENST00000369636.2_INTRON/RP11-426L16.10_ENST00000471038.2_INTRON|||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||false|false||false|false|||false|false|false||false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|||false|false||false||false||false|false|false||false|||false||]
-chr1	113498070	kgp6470243	G	C	.	PASS	FUNCOTATION=[SLC16A1|hg19|chr1|113498070|113498070|FIVE_PRIME_UTR||SNP|G|G|C|g.chr1:113498070G>C|ENST00000538576.1|-|1|||||0.5785536159600998|GGGCTGCCCCGTCCCCTCCGC|SLC16A1_ENST00000369626.3_INTRON/SLC16A1_ENST00000433570.4_FIVE_PRIME_UTR/SLC16A1_ENST00000478835.1_INTRON|||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||false|false||false|false|||false|false|false||false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|||false|false||false||false||false|false|false||false|||false||]
-chr1	113498283	kgp2705500	A	C	.	PASS	FUNCOTATION=[SLC16A1|hg19|chr1|113498283|113498283|FIVE_PRIME_UTR||SNP|A|A|C|g.chr1:113498283A>C|ENST00000538576.1|-|1|||||0.6109725685785536|TACCACATGCAGCAGCCTCAT|SLC16A1_ENST00000369626.3_INTRON/SLC16A1_ENST00000433570.4_FIVE_PRIME_UTR/SLC16A1_ENST00000478835.1_INTRON|||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||false|false||false|false|||false|false|false||false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|||false|false||false||false||false|false|false||false|||false||]
-chr1	114447565	exm2230834	G	A	.	PASS	FUNCOTATION=[AP4B1|hg19|chr1|114447565|114447565|DE_NOVO_START_OUT_FRAME||SNP|G|G|A|g.chr1:114447565G>A|ENST00000369569.1|-|1|||||0.6309226932668329|AGGCCCTACCGTCGGCCGGCA|AP4B1_ENST00000256658.4_DE_NOVO_START_OUT_FRAME/AP4B1_ENST00000369566.3_FIVE_PRIME_FLANK/AP4B1_ENST00000369567.1_FIVE_PRIME_FLANK|||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||true|false|0.6705_%2C_0.3295|false|false|1||false|true|false|DCLRE1B:64858_%7C_AP4B1:10717|true|true|true|true|true|false|false|false|false|false|false|false|false|false|false|false|false|false|true|false|1217397|114447565|true|false|0|true|0|false|0.586304_%2C_0.413696|false|false|true|SNV|true|0x0501004a000515053f000101|1|false|87|rs1217397]
+chr1	113498070	kgp6470243	G	C	.	PASS	FUNCOTATION=[SLC16A1|hg19|chr1|113498070|113498070|FIVE_PRIME_UTR||SNP|G|G|C|g.chr1:113498070G>C|ENST00000538576.1|-|1|||||0.5785536159600998|GGGCTGCCCCGTCCCCTCCGC|SLC16A1_ENST00000369626.3_INTRON/SLC16A1_ENST00000433570.4_FIVE_PRIME_UTR/SLC16A1_ENST00000478835.1_INTRON/RP11-31F15.1_ENST00000416193.1_FIVE_PRIME_FLANK/RP11-31F15.1_ENST00000420168.1_FIVE_PRIME_FLANK/RP11-31F15.1_ENST00000428411.1_FIVE_PRIME_FLANK/RP11-31F15.1_ENST00000435800.2_FIVE_PRIME_FLANK|||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||false|false||false|false|||false|false|false||false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|||false|false||false||false||false|false|false||false|||false||]
+chr1	113498283	kgp2705500	A	C	.	PASS	FUNCOTATION=[SLC16A1|hg19|chr1|113498283|113498283|FIVE_PRIME_UTR||SNP|A|A|C|g.chr1:113498283A>C|ENST00000538576.1|-|1|||||0.6109725685785536|TACCACATGCAGCAGCCTCAT|SLC16A1_ENST00000369626.3_INTRON/SLC16A1_ENST00000433570.4_FIVE_PRIME_UTR/SLC16A1_ENST00000478835.1_INTRON/RP11-31F15.1_ENST00000416193.1_FIVE_PRIME_FLANK/RP11-31F15.1_ENST00000420168.1_FIVE_PRIME_FLANK/RP11-31F15.1_ENST00000428411.1_FIVE_PRIME_FLANK/RP11-31F15.1_ENST00000435800.2_FIVE_PRIME_FLANK|||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||false|false||false|false|||false|false|false||false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|||false|false||false||false||false|false|false||false|||false||]
+chr1	114447565	exm2230834	G	A	.	PASS	FUNCOTATION=[AP4B1|hg19|chr1|114447565|114447565|DE_NOVO_START_OUT_FRAME||SNP|G|G|A|g.chr1:114447565G>A|ENST00000369569.1|-|1|||||0.6309226932668329|AGGCCCTACCGTCGGCCGGCA|AP4B1_ENST00000256658.4_DE_NOVO_START_OUT_FRAME/DCLRE1B_ENST00000369563.3_FIVE_PRIME_FLANK/AP4B1_ENST00000369566.3_FIVE_PRIME_FLANK/AP4B1_ENST00000369567.1_FIVE_PRIME_FLANK/DCLRE1B_ENST00000466480.1_FIVE_PRIME_FLANK|||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||true|false|0.6705_%2C_0.3295|false|false|1||false|true|false|DCLRE1B:64858_%7C_AP4B1:10717|true|true|true|true|true|false|false|false|false|false|false|false|false|false|false|false|false|false|true|false|1217397|114447565|true|false|0|true|0|false|0.586304_%2C_0.413696|false|false|true|SNV|true|0x0501004a000515053f000101|1|false|87|rs1217397]
 chr1	116384580	rs2797208	C	T	.	PASS	FUNCOTATION=[NHLH2|hg19|chr1|116384580|116384580|FIVE_PRIME_UTR||SNP|C|C|T|g.chr1:116384580C>T|ENST00000369506.1|-|1|||||0.3341645885286783|ACCAGTGTGTCCCAGTACATA|NHLH2_ENST00000320238.3_FIVE_PRIME_FLANK|||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||false|false||false|false|||false|false|false||false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|||false|false||false||false||false|false|false||false|||false||]
 chr1	116916056	seq_chr1_116916056	C	T	.	PASS	FUNCOTATION=[ATP1A1|hg19|chr1|116916056|116916056|FIVE_PRIME_UTR||SNP|C|C|T|g.chr1:116916056C>T|ENST00000295598.5|+|1|||||0.7630922693266833|CCCGCTCGCTCGGCCGGGAGC|AL136376.1_ENST00000598661.1_MISSENSE_p.R59Q/ATP1A1_ENST00000537345.1_FIVE_PRIME_FLANK|||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||false|false||false|false|||false|false|false||false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|||false|false||false||false||false|false|false||false|||false||]
 chr1	120307172	indel.6031	A	ATTGGCCTCCAGGGCCA	.	PASS	FUNCOTATION=[HMGCS2|hg19|chr1|120307172|120307173|FRAME_SHIFT_INS||INS|-|-|TTGGCCTCCAGGGCCA|g.chr1:120307172_120307173insTTGGCCTCCAGGGCCA|ENST00000369406.3|-|2|232|c.181_182insTGGCCCTGGAGGCCAA|c.(181-183)gtcfs|p.Y62fs|0.4875|GGGAAGTAGACCTCCAGGGC|HMGCS2_ENST00000544913.2_FRAME_SHIFT_INS_p.Y62fs/HMGCS2_ENST00000476640.1_INTRON|||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||false|false||false|false|||false|false|false||false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|||false|false||false||false||false|false|false||false|||false||]
@@ -1327,9 +1327,9 @@ chr1	150975123	var_1_150975123	G	A	.	PASS	FUNCOTATION=[FAM63A|hg19|chr1|15097512
 chr1	151138250	exm96069	G	T	.	PASS	FUNCOTATION=[LYSMD1|hg19|chr1|151138250|151138250|FIVE_PRIME_UTR||SNP|G|G|T|g.chr1:151138250G>T|ENST00000368908.5|-|1|||||0.5511221945137157|TCAAAGGTCCGCTCCGCATAA|LYSMD1_ENST00000440902.2_MISSENSE_p.S3R/SCNM1_ENST00000368905.4_FIVE_PRIME_FLANK/SCNM1_ENST00000461862.1_FIVE_PRIME_FLANK|||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||false|false||false|false|||false|false|false||false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|||false|false||false||false||false|false|false||false|||false||]
 chr1	151372047	rs2296840	C	T	.	PASS	FUNCOTATION=[PSMB4|hg19|chr1|151372047|151372047|FIVE_PRIME_UTR||SNP|C|C|T|g.chr1:151372047C>T|ENST00000290541.6|+|1|||||0.5486284289276808|TTCATTTTTTCTGCTACCGTG||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||false|false||false|false|||false|false|false||false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|||false|false||false||false||false|false|false||false|||false||]
 chr1	151372065	exm1714112	T	C	.	PASS	FUNCOTATION=[PSMB4|hg19|chr1|151372065|151372065|START_CODON_SNP||SNP|T|T|C|g.chr1:151372065T>C|ENST00000290541.6|+|1|56|c.2T>C|c.(1-3)aTg>aCg|p.M1T|0.5610972568578554|GTGACTAAGATGGAAGCGTTT||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||false|false||false|false|||false|false|false||false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|||false|false||false||false||false|false|false||false|||false||]
-chr1	151739221	indel.6571	CT	C	.	PASS	FUNCOTATION=[OAZ3|hg19|chr1|151739222|151739222|FIVE_PRIME_UTR||DEL|T|T|-|g.chr1:151739222delT|ENST00000479764.1|+|1|||||0.456359102244389|GTGTCGCCCCTCTGTCTACTC|OAZ3_ENST00000453029.2_INTRON/OAZ3_ENST00000321531.5_INTRON/OAZ3_ENST00000400999.1_FIVE_PRIME_UTR/OAZ3_ENST00000315067.8_INTRON/RP11-98D18.16_ENST00000596133.1_RNA/RP11-98D18.3_ENST00000512280.1_RNA/OAZ3_ENST00000577465.1_INTRON|||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||true|false||false|false|||false|false|false|OAZ3:51686|false|true|true|false|false|false|false|false|false|false|true|false|false|false|false|false|false|false|false|true|751011390|151739222|false|false|0|false|0|false||false|false|false|DIV|false|0x050000081205000402000200|1|false|144|rs751011390]
-chr1	151739333	exm97447	C	T	.	PASS	FUNCOTATION=[OAZ3|hg19|chr1|151739333|151739333|FIVE_PRIME_UTR||SNP|C|C|T|g.chr1:151739333C>T|ENST00000479764.1|+|1|||||0.4239401496259352|GATCACTCTCCGGGAGAAGAT|OAZ3_ENST00000453029.2_INTRON/OAZ3_ENST00000321531.5_INTRON/OAZ3_ENST00000400999.1_FIVE_PRIME_UTR/OAZ3_ENST00000315067.8_INTRON/RP11-98D18.16_ENST00000596133.1_RNA/RP11-98D18.3_ENST00000512280.1_RNA/OAZ3_ENST00000577465.1_INTRON|||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||true|false||false|false|||false|false|false|OAZ3:51686|false|true|true|true|false|false|false|false|false|false|false|true|false|false|false|false|false|false|false|true|188726350|151739333|false|false|0|false|0|false|0.999863_%2C_0.000137372|false|false|false|SNV|true|0x050000080a05040416000100|1|false|135|rs188726350]
-chr1	151739679	exm97451	C	A	.	PASS	FUNCOTATION=[OAZ3|hg19|chr1|151739679|151739679|FIVE_PRIME_UTR||SNP|C|C|A|g.chr1:151739679C>A|ENST00000479764.1|+|2|||||0.48877805486284287|ACTCCAGCCCCGTTCCTGCCT|OAZ3_ENST00000453029.2_MISSENSE_p.R38S/OAZ3_ENST00000321531.5_MISSENSE_p.R25S/OAZ3_ENST00000400999.1_FIVE_PRIME_UTR/OAZ3_ENST00000315067.8_MISSENSE_p.R25S/RP11-98D18.3_ENST00000512280.1_RNA/OAZ3_ENST00000577465.1_INTRON/RP11-98D18.16_ENST00000596133.1_FIVE_PRIME_FLANK|||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||true|false||false|false|||false|false|false|OAZ3:51686|false|true|false|false|false|false|false|false|false|true|false|true|false|false|false|false|false|false|false|true|201902593|151739679|false|false|0|false|0|false|0.999931_%2C_3.4343e-005_%2C_._%2C_3.4343e-005|false|false|false|SNV|true|0x050000000a05040402000104|1|false|137|rs201902593]
+chr1	151739221	indel.6571	CT	C	.	PASS	FUNCOTATION=[OAZ3|hg19|chr1|151739222|151739222|FIVE_PRIME_UTR||DEL|T|T|-|g.chr1:151739222delT|ENST00000479764.1|+|1|||||0.456359102244389|GTGTCGCCCCTCTGTCTACTC|OAZ3_ENST00000453029.2_INTRON/OAZ3_ENST00000321531.5_INTRON/OAZ3_ENST00000400999.1_FIVE_PRIME_UTR/OAZ3_ENST00000315067.8_INTRON/MRPL9_ENST00000368829.3_FIVE_PRIME_FLANK/MRPL9_ENST00000368830.3_FIVE_PRIME_FLANK/MRPL9_ENST00000467306.1_FIVE_PRIME_FLANK/RP11-98D18.16_ENST00000596133.1_RNA/RP11-98D18.3_ENST00000512280.1_RNA/OAZ3_ENST00000577465.1_INTRON|||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||true|false||false|false|||false|false|false|OAZ3:51686|false|true|true|false|false|false|false|false|false|false|true|false|false|false|false|false|false|false|false|true|751011390|151739222|false|false|0|false|0|false||false|false|false|DIV|false|0x050000081205000402000200|1|false|144|rs751011390]
+chr1	151739333	exm97447	C	T	.	PASS	FUNCOTATION=[OAZ3|hg19|chr1|151739333|151739333|FIVE_PRIME_UTR||SNP|C|C|T|g.chr1:151739333C>T|ENST00000479764.1|+|1|||||0.4239401496259352|GATCACTCTCCGGGAGAAGAT|OAZ3_ENST00000453029.2_INTRON/OAZ3_ENST00000321531.5_INTRON/OAZ3_ENST00000400999.1_FIVE_PRIME_UTR/OAZ3_ENST00000315067.8_INTRON/MRPL9_ENST00000368829.3_FIVE_PRIME_FLANK/MRPL9_ENST00000368830.3_FIVE_PRIME_FLANK/MRPL9_ENST00000467306.1_FIVE_PRIME_FLANK/RP11-98D18.16_ENST00000596133.1_RNA/RP11-98D18.3_ENST00000512280.1_RNA/OAZ3_ENST00000577465.1_INTRON|||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||true|false||false|false|||false|false|false|OAZ3:51686|false|true|true|true|false|false|false|false|false|false|false|true|false|false|false|false|false|false|false|true|188726350|151739333|false|false|0|false|0|false|0.999863_%2C_0.000137372|false|false|false|SNV|true|0x050000080a05040416000100|1|false|135|rs188726350]
+chr1	151739679	exm97451	C	A	.	PASS	FUNCOTATION=[OAZ3|hg19|chr1|151739679|151739679|FIVE_PRIME_UTR||SNP|C|C|A|g.chr1:151739679C>A|ENST00000479764.1|+|2|||||0.48877805486284287|ACTCCAGCCCCGTTCCTGCCT|OAZ3_ENST00000453029.2_MISSENSE_p.R38S/OAZ3_ENST00000321531.5_MISSENSE_p.R25S/OAZ3_ENST00000400999.1_FIVE_PRIME_UTR/OAZ3_ENST00000315067.8_MISSENSE_p.R25S/MRPL9_ENST00000368829.3_FIVE_PRIME_FLANK/MRPL9_ENST00000368830.3_FIVE_PRIME_FLANK/MRPL9_ENST00000467306.1_FIVE_PRIME_FLANK/RP11-98D18.3_ENST00000512280.1_RNA/OAZ3_ENST00000577465.1_INTRON/RP11-98D18.16_ENST00000596133.1_FIVE_PRIME_FLANK|||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||true|false||false|false|||false|false|false|OAZ3:51686|false|true|false|false|false|false|false|false|false|true|false|true|false|false|false|false|false|false|false|true|201902593|151739679|false|false|0|false|0|false|0.999931_%2C_3.4343e-005_%2C_._%2C_3.4343e-005|false|false|false|SNV|true|0x050000000a05040402000104|1|false|137|rs201902593]
 chr1	152275177	exm2249939	T	C	.	PASS	FUNCOTATION=[FLG|hg19|chr1|152275177|152275177|SILENT||SNP|T|T|C|g.chr1:152275177T>C|ENST00000368799.1|-|3|12221|c.12185A>G|c.(12184-12186)tAa>tGa|p.*4062*|0.32169576059850374|ATTAATTTCTTACTCATAGTA|FLG-AS1_ENST00000420707.1_RNA/FLG-AS1_ENST00000593011.1_RNA|||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||true|false||false|false|||false|false|false|FLG:2312|false|true|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|true|139645876|152275177|false|false|0|false|0|true|0.999966_%2C_3.4343e-005|false|false|false|SNV|true|0x050000000305040402000100|1|false|134|rs139645876]
 chr1	152323087	exm100586	C	G	.	PASS	FUNCOTATION=[FLG2|hg19|chr1|152323087|152323087|NONSTOP||SNP|C|C|G|g.chr1:152323087C>G|ENST00000388718.5|-|3|7248|c.7175G>C|c.(7174-7176)tGa>tCa|p.*2392S|0.3940149625935162|AAATAACTGTCAATGTCTAGA|FLG-AS1_ENST00000392688.2_RNA/FLG-AS1_ENST00000445097.1_RNA|||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||true|false|0.997_%2C_0.002995|false|false|1||false|false|false|FLG2:388698_%7C_FLG-AS1:339400|false|true|true|true|true|false|false|false|false|false|false|false|false|false|false|false|false|false|false|true|150529054|152323087|false|false|0|false|0|false|0.997321_%2C_0.00267876|false|false|false|SNV|true|0x050000080205040436000100|1|false|134|rs150529054]
 chr1	152324500	indel.6754	G	GC	.	PASS	FUNCOTATION=[FLG2|hg19|chr1|152324500|152324501|FRAME_SHIFT_INS||INS|-|-|C|g.chr1:152324500_152324501insC|ENST00000388718.5|-|3|5835|c.5761_5762insG|c.(5761-5763)actfs|p.T1921fs|0.5175|CCATGAGTAGTTTGGTGTCT|FLG-AS1_ENST00000392688.2_RNA/FLG-AS1_ENST00000445097.1_RNA|||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||true|false||false|false|||false|false|false|FLG2:388698_%7C_FLG-AS1:339400|false|true|true|false|false|false|false|false|false|false|true|false|false|false|false|false|false|false|false|true|760715355|152324500|false|false|0|false|0|false||false|false|false|DIV|true|0x050000081205040402000200|1|false|144|rs760715355]
@@ -1342,10 +1342,10 @@ chr1	153431505	exm1715554	G	T	.	PASS	FUNCOTATION=[S100A7|hg19|chr1|153431505|153
 chr1	153514241	exm2231338	A	C	.	PASS	FUNCOTATION=[S100A5|hg19|chr1|153514241|153514241|FIVE_PRIME_UTR||SNP|A|A|C|g.chr1:153514241A>C|ENST00000368718.1|-|1|||||0.4912718204488778|GAAGTGTGGGACAAACACAGG|S100A5_ENST00000359215.1_FIVE_PRIME_UTR/S100A5_ENST00000368717.2_FIVE_PRIME_FLANK|||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||false|false||false|false|||false|false|false||false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|||false|false||false||false||false|false|false||false|||false||]
 chr1	153517519	rs11488669	G	A	.	PASS	FUNCOTATION=[S100A4|hg19|chr1|153517519|153517519|FIVE_PRIME_UTR||SNP|G|G|A|g.chr1:153517519G>A|ENST00000368715.1|-|1|||||0.6109725685785536|CTGGAGATTCGGGCAGCAAAC|S100A4_ENST00000368716.4_INTRON/S100A4_ENST00000354332.4_INTRON/S100A4_ENST00000368714.1_INTRON/S100A5_ENST00000359215.1_FIVE_PRIME_FLANK/S100A5_ENST00000368717.2_FIVE_PRIME_FLANK/S100A5_ENST00000368718.1_FIVE_PRIME_FLANK/S100A4_ENST00000481009.1_INTRON|||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||false|false||false|false|||false|false|false||false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|||false|false||false||false||false|false|false||false|||false||]
 chr1	153580653	exm1715597	C	A	.	PASS	FUNCOTATION=[S100A16|hg19|chr1|153580653|153580653|FIVE_PRIME_UTR||SNP|C|C|A|g.chr1:153580653C>A|ENST00000368704.1|-|2|||||0.571072319201995|GCTGGCGGGGCCTGGACACCA|S100A16_ENST00000368706.4_FIVE_PRIME_UTR/S100A16_ENST00000368705.2_FIVE_PRIME_UTR/S100A16_ENST00000368703.2_FIVE_PRIME_UTR/S100A16_ENST00000474991.1_SPLICE_SITE|||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||false|false||false|false|||false|false|false||false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|||false|false||false||false||false|false|false||false|||false||]
-chr1	153604519	rs3818632	G	A	.	PASS	FUNCOTATION=[S100A13|hg19|chr1|153604519|153604519|FIVE_PRIME_UTR||SNP|G|G|A|g.chr1:153604519G>A|ENST00000368699.1|-|2|||||0.5411471321695761|CCAGCCATCCGATGTCTGTCT|S100A13_ENST00000339556.4_FIVE_PRIME_FLANK/S100A13_ENST00000392622.1_FIVE_PRIME_FLANK/S100A13_ENST00000392623.1_FIVE_PRIME_FLANK/S100A13_ENST00000440685.2_FIVE_PRIME_FLANK/S100A13_ENST00000491177.1_FIVE_PRIME_FLANK/RP1-178F15.4_ENST00000469931.2_RNA/RP1-178F15.5_ENST00000497086.1_RNA/RP1-178F15.4_ENST00000607839.1_RNA|||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||false|false||false|false|||false|false|false||false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|||false|false||false||false||false|false|false||false|||false||]
+chr1	153604519	rs3818632	G	A	.	PASS	FUNCOTATION=[S100A13|hg19|chr1|153604519|153604519|FIVE_PRIME_UTR||SNP|G|G|A|g.chr1:153604519G>A|ENST00000368699.1|-|2|||||0.5411471321695761|CCAGCCATCCGATGTCTGTCT|S100A13_ENST00000339556.4_FIVE_PRIME_FLANK/CHTOP_ENST00000368690.3_FIVE_PRIME_FLANK/CHTOP_ENST00000368694.3_FIVE_PRIME_FLANK/S100A13_ENST00000392622.1_FIVE_PRIME_FLANK/S100A13_ENST00000392623.1_FIVE_PRIME_FLANK/CHTOP_ENST00000403433.1_FIVE_PRIME_FLANK/S100A13_ENST00000440685.2_FIVE_PRIME_FLANK/S100A13_ENST00000491177.1_FIVE_PRIME_FLANK/CHTOP_ENST00000495554.1_FIVE_PRIME_FLANK/RP1-178F15.4_ENST00000469931.2_RNA/RP1-178F15.5_ENST00000497086.1_RNA/RP1-178F15.4_ENST00000607839.1_RNA|||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||false|false||false|false|||false|false|false||false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|||false|false||false||false||false|false|false||false|||false||]
 chr1	153752478	exm103036	A	G	.	PASS	FUNCOTATION=[SLC27A3|hg19|chr1|153752478|153752478|NONSTOP||SNP|A|A|G|g.chr1:153752478A>G|ENST00000271857.2|+|10|3196|c.2436A>G|c.(2434-2436)tgA>tgG|p.*812W|0.5386533665835411|TTCGAATCTGAGAACTTCCAC|SLC27A3_ENST00000368661.3_NONSTOP_p.*731W/SLC27A3_ENST00000484014.1_INTRON|||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||false|false||false|false|||false|false|false||false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|||false|false||false||false||false|false|false||false|||false||]
-chr1	153935543	rs2072704	G	A	.	PASS	FUNCOTATION=[SLC39A1|hg19|chr1|153935543|153935543|FIVE_PRIME_UTR||SNP|G|G|A|g.chr1:153935543G>A|ENST00000368623.3|-|1|||||0.5511221945137157|ACCTGGAGCTGGAGTTCCCCT|SLC39A1_ENST00000368621.1_FIVE_PRIME_UTR/SLC39A1_ENST00000310483.6_INTRON/SLC39A1_ENST00000356205.4_INTRON/SLC39A1_ENST00000537590.1_INTRON/SLC39A1_ENST00000461071.1_INTRON|||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||false|false||false|false|||false|false|false||false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|||false|false||false||false||false|false|false||false|||false||]
-chr1	153963239	exm103541	C	T	.	PASS	FUNCOTATION=[RPS27|hg19|chr1|153963239|153963239|FIVE_PRIME_UTR||SNP|C|C|T|g.chr1:153963239C>T|ENST00000368567.4|+|1|||||0.5336658354114713|GCTTTCGCTCCTTTCCGGCGG|RPS27_ENST00000392558.4_FIVE_PRIME_UTR/RPS27_ENST00000493224.1_SPLICE_SITE|||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||false|false||false|false|||false|false|false||false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|||false|false||false||false||false|false|false||false|||false||]
+chr1	153935543	rs2072704	G	A	.	PASS	FUNCOTATION=[SLC39A1|hg19|chr1|153935543|153935543|FIVE_PRIME_UTR||SNP|G|G|A|g.chr1:153935543G>A|ENST00000368623.3|-|1|||||0.5511221945137157|ACCTGGAGCTGGAGTTCCCCT|SLC39A1_ENST00000368621.1_FIVE_PRIME_UTR/SLC39A1_ENST00000310483.6_INTRON/SLC39A1_ENST00000356205.4_INTRON/SLC39A1_ENST00000537590.1_INTRON/CREB3L4_ENST00000271889.4_FIVE_PRIME_FLANK/CREB3L4_ENST00000368607.3_FIVE_PRIME_FLANK/CRTC2_ENST00000368630.3_FIVE_PRIME_FLANK/CRTC2_ENST00000368633.1_FIVE_PRIME_FLANK/CREB3L4_ENST00000405694.3_FIVE_PRIME_FLANK/CRTC2_ENST00000476883.1_FIVE_PRIME_FLANK/SLC39A1_ENST00000461071.1_INTRON/RP11-422P24.10_ENST00000608147.1_FIVE_PRIME_FLANK|||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||false|false||false|false|||false|false|false||false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|||false|false||false||false||false|false|false||false|||false||]
+chr1	153963239	exm103541	C	T	.	PASS	FUNCOTATION=[RPS27|hg19|chr1|153963239|153963239|FIVE_PRIME_UTR||SNP|C|C|T|g.chr1:153963239C>T|ENST00000368567.4|+|1|||||0.5336658354114713|GCTTTCGCTCCTTTCCGGCGG|RPS27_ENST00000392558.4_FIVE_PRIME_UTR/RAB13_ENST00000368575.3_FIVE_PRIME_FLANK/RAB13_ENST00000462680.1_FIVE_PRIME_FLANK/RPS27_ENST00000493224.1_SPLICE_SITE|||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||false|false||false|false|||false|false|false||false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|||false|false||false||false||false|false|false||false|||false||]
 chr1	154245142	rs11265425	T	G	.	PASS	FUNCOTATION=[HAX1|hg19|chr1|154245142|154245142|FIVE_PRIME_UTR||SNP|T|T|G|g.chr1:154245142T>G|ENST00000328703.7|+|1|||||0.5660847880299252|TGCGCAGGTTTCCCCCGTCTG|HAX1_ENST00000483970.2_FIVE_PRIME_UTR/HAX1_ENST00000457918.2_FIVE_PRIME_UTR/HAX1_ENST00000532105.1_FIVE_PRIME_FLANK|||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||false|false||false|false|||false|false|false||false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|||false|false||false||false||false|false|false||false|||false||]
 chr1	154956373	exm105089	A	G	.	PASS	FUNCOTATION=[FLAD1|hg19|chr1|154956373|154956373|FIVE_PRIME_UTR||SNP|A|A|G|g.chr1:154956373A>G|ENST00000315144.10|+|2|||||0.5910224438902744|TGCCCTGTAGACCTGGCAGGC|FLAD1_ENST00000368433.1_MISSENSE_p.D68G/FLAD1_ENST00000292180.3_MISSENSE_p.D68G/FLAD1_ENST00000368432.1_FIVE_PRIME_UTR/FLAD1_ENST00000368431.3_FIVE_PRIME_UTR/FLAD1_ENST00000295530.2_FIVE_PRIME_FLANK/FLAD1_ENST00000368428.1_FIVE_PRIME_FLANK/FLAD1_ENST00000405236.2_FIVE_PRIME_FLANK/FLAD1_ENST00000487371.1_INTRON|||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||false|false||false|false|||false|false|false||false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|||false|false||false||false||false|false|false||false|||false||]
 chr1	155214473	rs12034326	A	G	.	PASS	FUNCOTATION=[GBA|hg19|chr1|155214473|155214473|FIVE_PRIME_UTR||SNP|A|A|G|g.chr1:155214473A>G|ENST00000428024.3|-|1|||||0.6159600997506235|TCGGGGCGGGACCTGGATTGG|GBA_ENST00000327247.5_FIVE_PRIME_FLANK/GBA_ENST00000368373.3_FIVE_PRIME_FLANK/GBA_ENST00000427500.3_FIVE_PRIME_FLANK/GBA_ENST00000493842.1_FIVE_PRIME_FLANK/GBA_ENST00000536770.1_FIVE_PRIME_FLANK|||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||false|false||false|false|||false|false|false||false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|||false|false||false||false||false|false|false||false|||false||]
@@ -1360,7 +1360,7 @@ chr1	160797604	exm116520	T	G	.	PASS	FUNCOTATION=[LY9|hg19|chr1|160797604|1607976
 chr1	161677004	exm118314	A	T	.	PASS	FUNCOTATION=[FCRLA|hg19|chr1|161677004|161677004|START_CODON_SNP||SNP|A|A|T|g.chr1:161677004A>T|ENST00000236938.6|+|1|243|c.1A>T|c.(1-3)Atg>Ttg|p.M1L|0.4488778054862843|GAGAGGTTTCATGTTGAAGAA|FCRLA_ENST00000367957.2_START_CODON_SNP_p.M1L/FCRLA_ENST00000367959.2_START_CODON_SNP_p.M1L/FCRLA_ENST00000546024.1_START_CODON_SNP_p.M1L/FCRLA_ENST00000540521.1_START_CODON_SNP_p.M1L/FCRLA_ENST00000367949.2_START_CODON_SNP_p.M1L/FCRLA_ENST00000350710.3_START_CODON_SNP_p.M1L/FCRLA_ENST00000540926.1_FIVE_PRIME_UTR/FCRLA_ENST00000294796.4_FIVE_PRIME_FLANK/FCRLA_ENST00000309691.6_FIVE_PRIME_FLANK/FCRLA_ENST00000349527.4_FIVE_PRIME_FLANK/FCRLA_ENST00000367950.1_FIVE_PRIME_FLANK/FCRLA_ENST00000367953.3_FIVE_PRIME_FLANK/FCRLA_ENST00000470841.1_FIVE_PRIME_FLANK|||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||false|false||false|false|||false|false|false||false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|||false|false||false||false||false|false|false||false|||false||]
 chr1	161697451	exm118460	G	C	.	PASS	FUNCOTATION=[FCRLB|hg19|chr1|161697451|161697451|NONSTOP||SNP|G|G|C|g.chr1:161697451G>C|ENST00000367948.2|+|8|1495|c.1280G>C|c.(1279-1281)tGa>tCa|p.*427S|0.5635910224438903|GTGGAGAGCTGAGGGGGCGGC|FCRLB_ENST00000336830.5_THREE_PRIME_UTR/FCRLB_ENST00000367944.3_THREE_PRIME_UTR/FCRLB_ENST00000367946.3_THREE_PRIME_UTR/FCRLB_ENST00000367945.1_THREE_PRIME_UTR/FCRLB_ENST00000392158.1_NONSTOP_p.*427S/FCRLB_ENST00000495397.1_INTRON|||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||false|false||false|false|||false|false|false||false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|||false|false||false||false||false|false|false||false|||false||]
 chr1	165619079	exm119609	C	T	.	PASS	FUNCOTATION=[MGST3|hg19|chr1|165619079|165619079|DE_NOVO_START_OUT_FRAME||SNP|C|C|T|g.chr1:165619079C>T|ENST00000367889.3|+|2|||||0.44389027431421446|CTTCCACAGACGCAAGATGGC|MGST3_ENST00000367884.2_DE_NOVO_START_OUT_FRAME/MGST3_ENST00000367888.4_DE_NOVO_START_OUT_FRAME/MGST3_ENST00000367883.1_SPLICE_SITE_p.R13C/MGST3_ENST00000367885.1_SPLICE_SITE_p.R13C/MGST3_ENST00000367886.2_SPLICE_SITE_p.R13C|||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||false|false||false|false|||false|false|false||false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|||false|false||false||false||false|false|false||false|||false||]
-chr1	165667795	exm119723	T	G	.	PASS	FUNCOTATION=[ALDH9A1|hg19|chr1|165667795|165667795|START_CODON_SNP||SNP|T|T|G|g.chr1:165667795T>G|ENST00000354775.4|-|1|306|c.1A>C|c.(1-3)Atg>Ctg|p.M1L|0.6957605985037406|CGGAGAAACATGAGTGGCGGA|ALDH9A1_ENST00000461664.1_FIVE_PRIME_FLANK/ALDH9A1_ENST00000538148.1_FIVE_PRIME_FLANK|||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||false|false||false|false|||false|false|false||false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|||false|false||false||false||false|false|false||false|||false||]
+chr1	165667795	exm119723	T	G	.	PASS	FUNCOTATION=[ALDH9A1|hg19|chr1|165667795|165667795|START_CODON_SNP||SNP|T|T|G|g.chr1:165667795T>G|ENST00000354775.4|-|1|306|c.1A>C|c.(1-3)Atg>Ctg|p.M1L|0.6957605985037406|CGGAGAAACATGAGTGGCGGA|ALDH9A1_ENST00000461664.1_FIVE_PRIME_FLANK/ALDH9A1_ENST00000538148.1_FIVE_PRIME_FLANK/RP11-466F5.6_ENST00000400982.2_FIVE_PRIME_FLANK|||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||false|false||false|false|||false|false|false||false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|||false|false||false||false||false|false|false||false|||false||]
 chr1	171154418	rs28369797	C	T	.	PASS	FUNCOTATION=[FMO2|hg19|chr1|171154418|171154418|DE_NOVO_START_OUT_FRAME||SNP|C|C|T|g.chr1:171154418C>T|ENST00000209929.7|+|1|||||0.43640897755610975|CTCTTAAAAACGCTTCCAACT|FMO2_ENST00000441535.1_DE_NOVO_START_OUT_FRAME/FMO2_ENST00000529935.1_FIVE_PRIME_FLANK|||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||true|false|0.9882_%2C_._%2C_0.01178|false|false|1||false|true|false|FMO2:2327|true|true|false|true|true|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|28369797|171154418|false|false|0|true|0|false|0.993028_%2C_._%2C_0.00697163|true|false|true|SNV|true|0x050110400005150537000100|1|false|125|rs28369797]
 chr1	171178090	exm123207	T	C	.	PASS	FUNCOTATION=[FMO2|hg19|chr1|171178090|171178090|NONSTOP||SNP|T|T|C|g.chr1:171178090T>C|ENST00000209929.7|+|9|1572|c.1414T>C|c.(1414-1416)Tag>Cag|p.*472Q|0.456359102244389|CAACTCCTATTAGTATCGCCT|FMO2_ENST00000441535.1_NONSTOP_p.*472Q/RP1-127D3.4_ENST00000422841.1_RNA/RP1-127D3.4_ENST00000445909.1_RNA/RP1-127D3.4_ENST00000445290.1_RNA/FMO2_ENST00000529935.1_INTRON|||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||true|false|0.9537_%2C_0.04633|false|false|1||false|true|false|FMO2:2327|true|true|false|true|true|false|false|false|false|false|false|false|true|false|false|true|true|false|false|true|6661174|171178090|false|false|0|true|0|false||false|true|false|SNV|true|0x05012880060515053f000100|1|false|116|rs6661174]
 chr1	171178090	rs6661174	T	C	.	PASS	FUNCOTATION=[FMO2|hg19|chr1|171178090|171178090|NONSTOP||SNP|T|T|C|g.chr1:171178090T>C|ENST00000209929.7|+|9|1572|c.1414T>C|c.(1414-1416)Tag>Cag|p.*472Q|0.456359102244389|CAACTCCTATTAGTATCGCCT|FMO2_ENST00000441535.1_NONSTOP_p.*472Q/RP1-127D3.4_ENST00000422841.1_RNA/RP1-127D3.4_ENST00000445909.1_RNA/RP1-127D3.4_ENST00000445290.1_RNA/FMO2_ENST00000529935.1_INTRON|||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||true|false|0.9537_%2C_0.04633|false|false|1||false|true|false|FMO2:2327|true|true|false|true|true|false|false|false|false|false|false|false|true|false|false|true|true|false|false|true|6661174|171178090|false|false|0|true|0|false||false|true|false|SNV|true|0x05012880060515053f000100|1|false|116|rs6661174]
@@ -1373,14 +1373,14 @@ chr1	197057491	indel.9105	T	TCC	.	PASS	FUNCOTATION=[ASPM|hg19|chr1|197057491|197
 chr1	207700162	indel.9720	A	AAGAT	.	PASS	FUNCOTATION=[CR1|hg19|chr1|207700162|207700163|FRAME_SHIFT_INS||INS|-|-|AGAT|g.chr1:207700162_207700163insAGAT|ENST00000367049.4|+|6|951|c.951_952insAGAT|c.(952-954)cctfs|p.P318fs|0.445|CAACTTTTCACCTGGGCAGG|CR1_ENST00000367052.1_FRAME_SHIFT_INS_p.P318fs/CR1_ENST00000367053.1_FRAME_SHIFT_INS_p.P318fs/CR1_ENST00000400960.2_FRAME_SHIFT_INS_p.P318fs/CR1_ENST00000367051.1_INTRON/CR1_ENST00000367050.4_INTRON|||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||false|false||false|false|||false|false|false||false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|||false|false||false||false||false|false|false||false|||false||]
 chr1	209849340	exm145908	A	G	.	PASS	FUNCOTATION=[G0S2|hg19|chr1|209849340|209849340|NONSTOP||SNP|A|A|G|g.chr1:209849340A>G|ENST00000367029.4|+|2|473|c.311A>G|c.(310-312)tAg>tGg|p.*104W|0.6309226932668329|CACGCCTCCTAGGAACTGTGG|RP1-28O10.1_ENST00000441672.1_RNA/RP1-28O10.1_ENST00000445272.1_FIVE_PRIME_FLANK|||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||false|false||false|false|||false|false|false||false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|||false|false||false||false||false|false|false||false|||false||]
 chr1	209932121	rs10489341	C	T	.	PASS	FUNCOTATION=[TRAF3IP3|hg19|chr1|209932121|209932121|DE_NOVO_START_OUT_FRAME||SNP|C|C|T|g.chr1:209932121C>T|ENST00000367024.1|+|1|||||0.5236907730673317|GAATTTCCAACGCTCAGGATC|TRAF3IP3_ENST00000367025.3_INTRON/TRAF3IP3_ENST00000367026.3_INTRON/TRAF3IP3_ENST00000400959.3_INTRON/TRAF3IP3_ENST00000010338.4_FIVE_PRIME_FLANK|||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||true|false|0.8838_%2C_0.1162|false|false|1||false|true|false|TRAF3IP3:80342|true|true|true|true|true|false|false|false|false|false|false|false|false|false|false|true|true|false|false|false|10489341|209932121|false|false|0|true|0|false|0.849876_%2C_0.150124|false|false|true|SNV|true|0x05012848000515053f000100|1|false|119|rs10489341]
-chr1	217804722	exm149634	T	C	.	PASS	FUNCOTATION=[SPATA17|hg19|chr1|217804722|217804722|START_CODON_SNP||SNP|T|T|C|g.chr1:217804722T>C|ENST00000366933.4|+|1|57|c.2T>C|c.(1-3)aTg>aCg|p.M1T|0.43640897755610975|CAAGAGACCATGGCCACGTTA||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||false|false||false|false|||false|false|false||false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|||false|false||false||false||false|false|false||false|||false||]
+chr1	217804722	exm149634	T	C	.	PASS	FUNCOTATION=[SPATA17|hg19|chr1|217804722|217804722|START_CODON_SNP||SNP|T|T|C|g.chr1:217804722T>C|ENST00000366933.4|+|1|57|c.2T>C|c.(1-3)aTg>aCg|p.M1T|0.43640897755610975|CAAGAGACCATGGCCACGTTA|GPATCH2_ENST00000366934.3_FIVE_PRIME_FLANK/GPATCH2_ENST00000366935.3_FIVE_PRIME_FLANK|||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||false|false||false|false|||false|false|false||false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|||false|false||false||false||false|false|false||false|||false||]
 chr1	225586971	exm152734	A	T	.	PASS	FUNCOTATION=[DNAH14|hg19|chr1|225586971|225586971|NONSTOP||SNP|A|A|T|g.chr1:225586971A>T|ENST00000445597.2|+|61|10524|c.10524A>T|c.(10522-10524)taA>taT|p.*3508Y|0.3790523690773067|ATGAAAAATAAATGTCCATAT|DNAH14_ENST00000439375.2_NONSTOP_p.*4516Y/DNAH14_ENST00000430092.1_NONSTOP_p.*4516Y|||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||false|false||false|false|||false|false|false||false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|||false|false||false||false||false|false|false||false|||false||]
-chr1	228295961	exm154986	T	G	.	PASS	FUNCOTATION=[MRPL55|hg19|chr1|228295961|228295961|START_CODON_SNP||SNP|T|T|G|g.chr1:228295961T>G|ENST00000411464.2|-|3|795|c.1A>C|c.(1-3)Atg>Ctg|p.M1L|0.5536159600997507|ACGGCCGCCATTCCTCCTTAC|MRPL55_ENST00000366735.1_START_CODON_SNP_p.M1L/MRPL55_ENST00000366734.1_START_CODON_SNP_p.M1L/MRPL55_ENST00000366733.1_START_CODON_SNP_p.M1L/MRPL55_ENST00000336520.3_START_CODON_SNP_p.M1L/MRPL55_ENST00000366744.1_START_CODON_SNP_p.M1L/MRPL55_ENST00000336300.5_START_CODON_SNP_p.M1L/MRPL55_ENST00000348259.5_START_CODON_SNP_p.M1L/MRPL55_ENST00000366736.1_START_CODON_SNP_p.M1L/MRPL55_ENST00000366740.1_START_CODON_SNP_p.M1L/MRPL55_ENST00000366739.1_START_CODON_SNP_p.M1L/MRPL55_ENST00000295008.4_START_CODON_SNP_p.M1L/MRPL55_ENST00000366742.1_START_CODON_SNP_p.M1L/MRPL55_ENST00000366741.1_START_CODON_SNP_p.M1L/MRPL55_ENST00000366747.3_START_CODON_SNP_p.M1L/MRPL55_ENST00000366746.3_START_CODON_SNP_p.M1L/MRPL55_ENST00000366732.1_START_CODON_SNP_p.M1L/MRPL55_ENST00000366738.1_START_CODON_SNP_p.M1L/MRPL55_ENST00000391867.3_START_CODON_SNP_p.M1L/MRPL55_ENST00000366731.5_START_CODON_SNP_p.M1L/MRPL55_ENST00000430433.1_START_CODON_SNP_p.M1L/MRPL55_ENST00000465397.1_INTRON|||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||true|false||false|false|||false|false|false|MRPL55:128308|false|true|false|false|false|false|false|false|false|false|false|true|false|false|false|false|false|false|false|true|140581823|228295961|false|false|0|false|0|false||false|false|false|SNV|true|0x050000000a05040402000100|1|false|134|rs140581823]
-chr1	228296020	variant.10429	C	A	.	PASS	FUNCOTATION=[MRPL55|hg19|chr1|228296020|228296020|DE_NOVO_START_IN_FRAME||SNP|C|C|A|g.chr1:228296020C>A|ENST00000366735.1|-|1|||||0.5286783042394015|GGCGTGCAACCTGCTAGGCAG|MRPL55_ENST00000366734.1_DE_NOVO_START_IN_FRAME/MRPL55_ENST00000366740.1_DE_NOVO_START_IN_FRAME/MRPL55_ENST00000366742.1_DE_NOVO_START_IN_FRAME/MRPL55_ENST00000411464.2_SPLICE_SITE/MRPL55_ENST00000366733.1_SPLICE_SITE/MRPL55_ENST00000336520.3_SPLICE_SITE/MRPL55_ENST00000366744.1_SPLICE_SITE/MRPL55_ENST00000336300.5_SPLICE_SITE/MRPL55_ENST00000348259.5_SPLICE_SITE/MRPL55_ENST00000366736.1_SPLICE_SITE/MRPL55_ENST00000366739.1_SPLICE_SITE/MRPL55_ENST00000295008.4_SPLICE_SITE/MRPL55_ENST00000366741.1_SPLICE_SITE/MRPL55_ENST00000366747.3_SPLICE_SITE/MRPL55_ENST00000366746.3_SPLICE_SITE/MRPL55_ENST00000366732.1_SPLICE_SITE/MRPL55_ENST00000366738.1_SPLICE_SITE/MRPL55_ENST00000391867.3_DE_NOVO_START_IN_FRAME/MRPL55_ENST00000366731.5_SPLICE_SITE/MRPL55_ENST00000430433.1_SPLICE_SITE/MRPL55_ENST00000465397.1_SPLICE_SITE|||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||true|true||false|false|||false|false|false|MRPL55:128308|false|true|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|868542799|228296020|false|false|0|false|0|false|0.999931_%2C_6.86908e-005|false|false|true|SNV|false|0x050000600005000402000100|1|false|147|rs868542799]
+chr1	228295961	exm154986	T	G	.	PASS	FUNCOTATION=[MRPL55|hg19|chr1|228295961|228295961|START_CODON_SNP||SNP|T|T|G|g.chr1:228295961T>G|ENST00000411464.2|-|3|795|c.1A>C|c.(1-3)Atg>Ctg|p.M1L|0.5536159600997507|ACGGCCGCCATTCCTCCTTAC|MRPL55_ENST00000366735.1_START_CODON_SNP_p.M1L/MRPL55_ENST00000366734.1_START_CODON_SNP_p.M1L/MRPL55_ENST00000366733.1_START_CODON_SNP_p.M1L/MRPL55_ENST00000336520.3_START_CODON_SNP_p.M1L/MRPL55_ENST00000366744.1_START_CODON_SNP_p.M1L/MRPL55_ENST00000336300.5_START_CODON_SNP_p.M1L/MRPL55_ENST00000348259.5_START_CODON_SNP_p.M1L/MRPL55_ENST00000366736.1_START_CODON_SNP_p.M1L/MRPL55_ENST00000366740.1_START_CODON_SNP_p.M1L/MRPL55_ENST00000366739.1_START_CODON_SNP_p.M1L/MRPL55_ENST00000295008.4_START_CODON_SNP_p.M1L/MRPL55_ENST00000366742.1_START_CODON_SNP_p.M1L/MRPL55_ENST00000366741.1_START_CODON_SNP_p.M1L/MRPL55_ENST00000366747.3_START_CODON_SNP_p.M1L/MRPL55_ENST00000366746.3_START_CODON_SNP_p.M1L/MRPL55_ENST00000366732.1_START_CODON_SNP_p.M1L/MRPL55_ENST00000366738.1_START_CODON_SNP_p.M1L/MRPL55_ENST00000391867.3_START_CODON_SNP_p.M1L/MRPL55_ENST00000366731.5_START_CODON_SNP_p.M1L/MRPL55_ENST00000430433.1_START_CODON_SNP_p.M1L/C1orf35_ENST00000272139.4_FIVE_PRIME_FLANK/C1orf35_ENST00000472617.1_FIVE_PRIME_FLANK/MRPL55_ENST00000465397.1_INTRON|||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||true|false||false|false|||false|false|false|MRPL55:128308|false|true|false|false|false|false|false|false|false|false|false|true|false|false|false|false|false|false|false|true|140581823|228295961|false|false|0|false|0|false||false|false|false|SNV|true|0x050000000a05040402000100|1|false|134|rs140581823]
+chr1	228296020	variant.10429	C	A	.	PASS	FUNCOTATION=[MRPL55|hg19|chr1|228296020|228296020|DE_NOVO_START_IN_FRAME||SNP|C|C|A|g.chr1:228296020C>A|ENST00000366735.1|-|1|||||0.5286783042394015|GGCGTGCAACCTGCTAGGCAG|MRPL55_ENST00000366734.1_DE_NOVO_START_IN_FRAME/MRPL55_ENST00000366740.1_DE_NOVO_START_IN_FRAME/MRPL55_ENST00000366742.1_DE_NOVO_START_IN_FRAME/MRPL55_ENST00000411464.2_SPLICE_SITE/MRPL55_ENST00000366733.1_SPLICE_SITE/MRPL55_ENST00000336520.3_SPLICE_SITE/MRPL55_ENST00000366744.1_SPLICE_SITE/MRPL55_ENST00000336300.5_SPLICE_SITE/MRPL55_ENST00000348259.5_SPLICE_SITE/MRPL55_ENST00000366736.1_SPLICE_SITE/MRPL55_ENST00000366739.1_SPLICE_SITE/MRPL55_ENST00000295008.4_SPLICE_SITE/MRPL55_ENST00000366741.1_SPLICE_SITE/MRPL55_ENST00000366747.3_SPLICE_SITE/MRPL55_ENST00000366746.3_SPLICE_SITE/MRPL55_ENST00000366732.1_SPLICE_SITE/MRPL55_ENST00000366738.1_SPLICE_SITE/MRPL55_ENST00000391867.3_DE_NOVO_START_IN_FRAME/MRPL55_ENST00000366731.5_SPLICE_SITE/MRPL55_ENST00000430433.1_SPLICE_SITE/C1orf35_ENST00000272139.4_FIVE_PRIME_FLANK/C1orf35_ENST00000472617.1_FIVE_PRIME_FLANK/MRPL55_ENST00000465397.1_SPLICE_SITE|||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||true|true||false|false|||false|false|false|MRPL55:128308|false|true|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|868542799|228296020|false|false|0|false|0|false|0.999931_%2C_6.86908e-005|false|false|true|SNV|false|0x050000600005000402000100|1|false|147|rs868542799]
 chr1	230979415	exm158328	C	A	.	PASS	FUNCOTATION=[C1orf198|hg19|chr1|230979415|230979415|DE_NOVO_START_OUT_FRAME||SNP|C|C|A|g.chr1:230979415C>A|ENST00000427697.2|-|3|||||0.6458852867830424|GGAACTCGGCCTCAGGCCCCT|C1orf198_ENST00000366663.5_MISSENSE_p.E204D/C1orf198_ENST00000470540.1_MISSENSE_p.E166D/C1orf198_ENST00000523410.1_MISSENSE_p.E74D|||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||false|false||false|false|||false|false|false||false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|||false|false||false||false||false|false|false||false|||false||]
 chr1	232651063	indel.10724	T	TAGAA	.	PASS	FUNCOTATION=[SIPA1L2|hg19|chr1|232651063|232651064|FRAME_SHIFT_INS||INS|-|-|AGAA|g.chr1:232651063_232651064insAGAA|ENST00000366630.1|-|2|382|c.22_23insTTCT|c.(22-24)caafs|p.Q8fs|0.4425|TTCTCTTCTTGTGACTGCCT|SIPA1L2_ENST00000262861.4_FRAME_SHIFT_INS_p.Q8fs|||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||false|false||false|false|||false|false|false||false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|||false|false||false||false||false|false|false||false|||false||]
 chr1	232940993	indel.10725	C	CCAAAGCAG	.	PASS	FUNCOTATION=[MAP10|hg19|chr1|232940993|232940994|FRAME_SHIFT_INS||INS|-|-|CAAAGCAG|g.chr1:232940993_232940994insCAAAGCAG|ENST00000418460.1|+|1|351|c.224_225insCAAAGCAG|c.(223-225)gctfs|p.H76fs|0.4925|AAAAAACGGCTCACAAGTAT||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||false|false||false|false|||false|false|false||false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|||false|false||false||false||false|false|false||false|||false||]
-chr1	235295173	indel.10810	G	GTA	.	PASS	FUNCOTATION=[RBM34|hg19|chr1|235295173|235295174|FRAME_SHIFT_INS||INS|-|-|TA|g.chr1:235295173_235295174insTA|ENST00000408888.3|-|11|1379|c.1147_1148insTA|c.(1147-1149)cctfs|p.P383fs|0.3475|CCCTGCTTAGGTTTACTGAC|RBM34_ENST00000366606.3_FRAME_SHIFT_INS_p.P378fs/RBM34_ENST00000495224.1_INTRON|||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||false|false||false|false|||false|false|false||false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|||false|false||false||false||false|false|false||false|||false||]
+chr1	235295173	indel.10810	G	GTA	.	PASS	FUNCOTATION=[RBM34|hg19|chr1|235295173|235295174|FRAME_SHIFT_INS||INS|-|-|TA|g.chr1:235295173_235295174insTA|ENST00000408888.3|-|11|1379|c.1147_1148insTA|c.(1147-1149)cctfs|p.P383fs|0.3475|CCCTGCTTAGGTTTACTGAC|RBM34_ENST00000366606.3_FRAME_SHIFT_INS_p.P378fs/TOMM20_ENST00000366607.4_FIVE_PRIME_FLANK/RBM34_ENST00000495224.1_INTRON/SNORA14B_ENST00000384452.1_FIVE_PRIME_FLANK|||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||false|false||false|false|||false|false|false||false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|||false|false||false||false||false|false|false||false|||false||]
 chr1	241755453	exm163712	T	C	.	PASS	FUNCOTATION=[KMO|hg19|chr1|241755453|241755453|NONSTOP||SNP|T|T|C|g.chr1:241755453T>C|ENST00000366559.4|+|15|1770|c.1459T>C|c.(1459-1461)Tga>Cga|p.*487R|0.39650872817955113|CATTAGCAGGTGATAGAAAGG|KMO_ENST00000366557.4_NONSTOP_p.*453R/KMO_ENST00000366558.3_NONSTOP_p.*474R|||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||false|false||false|false|||false|false|false||false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|||false|false||false||false||false|false|false||false|||false||]
 chr1	241964517	exm163990	A	C	.	PASS	FUNCOTATION=[WDR64|hg19|chr1|241964517|241964517|NONSTOP||SNP|A|A|C|g.chr1:241964517A>C|ENST00000366552.2|+|27|3453|c.3246A>C|c.(3244-3246)taA>taC|p.*1082Y|0.4014962593516209|TACCCAAGTAAGGAGAAAAAA|WDR64_ENST00000437684.2_NONSTOP_p.*915Y|||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||false|false||false|false|||false|false|false||false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|||false|false||false||false||false|false|false||false|||false||]
 chr1	248039789	exm167009	T	C	.	PASS	FUNCOTATION=[TRIM58|hg19|chr1|248039789|248039789|NONSTOP||SNP|T|T|C|g.chr1:248039789T>C|ENST00000366481.3|+|6|1507|c.1459T>C|c.(1459-1461)Taa>Caa|p.*487Q|0.39650872817955113|TGATCATCTCTAAAATTCTGT|OR2W3_ENST00000537741.1_INTRON|||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||false|false||false|false|||false|false|false||false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|||false|false||false||false||false|false|false||false|||false||]
@@ -1396,7 +1396,7 @@ chr10	55955567	exm825941	T	C	.	PASS	FUNCOTATION=[PCDH15|hg19|chr10|55955567|5595
 chr10	70182529	indel.12828	A	AAG	.	PASS	FUNCOTATION=[DNA2|hg19|chr10|70182529|70182530|FRAME_SHIFT_INS||INS|-|-|AG|g.chr10:70182529_70182530insAG|ENST00000358410.3|-|15|2378|c.2326_2327insCT|c.(2326-2328)cttfs|p.L776fs|0.3525|GAAAAAAAAAGGGGGCCCAG|DNA2_ENST00000399180.2_FRAME_SHIFT_INS_p.L862fs/DNA2_ENST00000399179.2_INTRON|||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||false|false||false|false|||false|false|false||false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|||false|false||false||false||false|false|false||false|||false||]
 chr10	90988034	indel.13572	C	CGG	.	PASS	FUNCOTATION=[LIPA|hg19|chr10|90988034|90988035|FRAME_SHIFT_INS||INS|-|-|GG|g.chr10:90988034_90988035insGG|ENST00000336233.5|-|4|674|c.350_351insCC|c.(349-351)atgfs|p.M117fs|0.4325|GCTGTTGCCCATCCACACGT|LIPA_ENST00000456827.1_FRAME_SHIFT_INS_p.M117fs/LIPA_ENST00000371837.1_FRAME_SHIFT_INS_p.M61fs|||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||false|false||false|false|||false|false|false||false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|||false|false||false||false||false|false|false||false|||false||]
 chr10	95121241	indel.13733	G	GGT	.	PASS	FUNCOTATION=[MYOF|hg19|chr10|95121241|95121242|FRAME_SHIFT_INS||INS|-|-|GT|g.chr10:95121241_95121242insGT|ENST00000359263.4|-|28|2942|c.2941_2942insAC|c.(2941-2943)tctfs|p.S981fs|0.47|ATGTCATAAGACCATGCATC|MYOF_ENST00000358334.5_FRAME_SHIFT_INS_p.S968fs/MYOF_ENST00000371501.4_FRAME_SHIFT_INS_p.S981fs/MYOF_ENST00000371502.4_FRAME_SHIFT_INS_p.S981fs|||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||false|false||false|false|||false|false|false||false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|||false|false||false||false||false|false|false||false|||false||]
-chr10	102048159	indel.14208	C	CA	.	PASS	FUNCOTATION=[PKD2L1|hg19|chr10|102048159|102048160|FRAME_SHIFT_INS||INS|-|-|A|g.chr10:102048159_102048160insA|ENST00000318222.3|-|16|2795|c.2411_2412insT|c.(2410-2412)aggfs|p.R804fs|0.465|CACTTAACTCCTCTGCAACG|PKD2L1_ENST00000338519.3_FRAME_SHIFT_INS_p.R729fs/PKD2L1_ENST00000353274.3_THREE_PRIME_UTR|||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||false|false||false|false|||false|false|false||false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|||false|false||false||false||false|false|false||false|||false||]
+chr10	102048159	indel.14208	C	CA	.	PASS	FUNCOTATION=[PKD2L1|hg19|chr10|102048159|102048160|FRAME_SHIFT_INS||INS|-|-|A|g.chr10:102048159_102048160insA|ENST00000318222.3|-|16|2795|c.2411_2412insT|c.(2410-2412)aggfs|p.R804fs|0.465|CACTTAACTCCTCTGCAACG|PKD2L1_ENST00000338519.3_FRAME_SHIFT_INS_p.R729fs/PKD2L1_ENST00000353274.3_THREE_PRIME_UTR/BLOC1S2_ENST00000361832.2_FIVE_PRIME_FLANK/BLOC1S2_ENST00000370372.2_FIVE_PRIME_FLANK/BLOC1S2_ENST00000441611.1_FIVE_PRIME_FLANK|||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||false|false||false|false|||false|false|false||false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|||false|false||false||false||false|false|false||false|||false||]
 chr10	102684419	indel.14264	A	AT	.	PASS	FUNCOTATION=[FAM178A|hg19|chr10|102684419|102684420|FRAME_SHIFT_INS||INS|-|-|T|g.chr10:102684419_102684420insT|ENST00000238961.4|+|5|2203|c.1661_1662insT|c.(1660-1662)aagfs|p.K554fs|0.4225|CTCCTACAAAGTCTCCCCCT|FAM178A_ENST00000370269.3_FRAME_SHIFT_INS_p.K554fs/FAM178A_ENST00000370271.3_FRAME_SHIFT_INS_p.K554fs|||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||false|false||false|false|||false|false|false||false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|||false|false||false||false||false|false|false||false|||false||]
 chr10	120795681	indel.14858	TCTCGGTCTCTTG	T	.	PASS	FUNCOTATION=[EIF3A|hg19|chr10|120795682|120795693|IN_FRAME_DEL||DEL|CTCGGTCTCTTG|CTCGGTCTCTTG|-|g.chr10:120795682_120795693delCTCGGTCTCTTG|ENST00000369144.3|-|22|4147_4158|c.4007_4018delCAAGAGACCGAG|c.(4006-4020)tcaagagaccgagaa>taa|p.1336_1340SRDRE>*|0.3859223300970874|CGGTCTCTTTCTCGGTCTCTTGAAAGAGCTGG|EIF3A_ENST00000541549.1_IN_FRAME_DEL_p.1302_1306SRDRE>*|||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||true|false||false|false|||false|false|false|EIF3A:8661|false|true|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|766037789|120795682|false|false|0|false|0|false||false|false|false|DIV|false|0x050000000005000402000200|1|false|144|rs766037789]
 chr10	121541194	indel.14880	A	AG	.	PASS	FUNCOTATION=[INPP5F|hg19|chr10|121541194|121541195|FRAME_SHIFT_INS||INS|-|-|G|g.chr10:121541194_121541195insG|ENST00000361976.2|+|3|392|c.226_227insG|c.(226-228)aaafs|p.K76fs|0.3625|TTGGTGGGCAAACTCCCAGG|INPP5F_ENST00000369081.1_FIVE_PRIME_UTR/INPP5F_ENST00000369083.3_FRAME_SHIFT_INS_p.K76fs|||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||false|false||false|false|||false|false|false||false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|||false|false||false||false||false|false|false||false|||false||]
@@ -1411,12 +1411,12 @@ chr11	63953121	rs3751122	G	T	.	PASS	FUNCOTATION=[STIP1|hg19|chr11|63953121|63953
 chr11	75694488	exm942121	C	T	.	PASS	FUNCOTATION=[UVRAG|hg19|chr11|75694488|75694488|DE_NOVO_START_IN_FRAME||SNP|C|C|T|g.chr11:75694488C>T|ENST00000533454.1|+|3|||||0.32169576059850374|TGAACTGGAACGGCAGAAGAA|UVRAG_ENST00000356136.3_MISSENSE_p.R253W/UVRAG_ENST00000531818.1_DE_NOVO_START_OUT_FRAME/UVRAG_ENST00000532130.1_DE_NOVO_START_OUT_FRAME/UVRAG_ENST00000528420.1_MISSENSE_p.R152W/UVRAG_ENST00000539288.1_DE_NOVO_START_IN_FRAME|||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||false|false||false|false|||false|false|false||false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|||false|false||false||false||false|false|false||false|||false||]
 chr11	75694530	exm942122	A	G	.	PASS	FUNCOTATION=[UVRAG|hg19|chr11|75694530|75694530|DE_NOVO_START_OUT_FRAME||SNP|A|A|G|g.chr11:75694530A>G|ENST00000533454.1|+|3|||||0.34413965087281795|ATTACTGCATAAGCAACAAAT|UVRAG_ENST00000356136.3_MISSENSE_p.K267E/UVRAG_ENST00000531818.1_DE_NOVO_START_OUT_FRAME/UVRAG_ENST00000532130.1_DE_NOVO_START_OUT_FRAME/UVRAG_ENST00000539288.1_DE_NOVO_START_OUT_FRAME/UVRAG_ENST00000528420.1_MISSENSE_p.K166E|||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||false|false||false|false|||false|false|false||false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|||false|false||false||false||false|false|false||false|||false||]
 chr11	78282425	exm944472	G	C	.	PASS	FUNCOTATION=[NARS2|hg19|chr11|78282425|78282425|DE_NOVO_START_OUT_FRAME||SNP|G|G|C|g.chr11:78282425G>C|ENST00000528850.1|-|2|||||0.3790523690773067|GCTTTCCAAAGATGACCCATC|NARS2_ENST00000281038.5_MISSENSE_p.S69C|||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||false|false||false|false|||false|false|false||false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|||false|false||false||false||false|false|false||false|||false||]
-chr11	111753117	indel.21284	C	CGT	.	PASS	FUNCOTATION=[C11orf1|hg19|chr11|111753117|111753118|FRAME_SHIFT_INS||INS|-|-|GT|g.chr11:111753117_111753118insGT|ENST00000530214.1|+|2|90|c.71_72insGT|c.(70-72)acafs|p.N25fs|0.4425|GTTTCCTCACAAACCCACAC|C11orf1_ENST00000528125.1_FIVE_PRIME_UTR/C11orf1_ENST00000260276.3_FRAME_SHIFT_INS_p.N25fs/C11orf1_ENST00000529270.1_FRAME_SHIFT_INS_p.N65fs|||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||false|false||false|false|||false|false|false||false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|||false|false||false||false||false|false|false||false|||false||]
+chr11	111753117	indel.21284	C	CGT	.	PASS	FUNCOTATION=[C11orf1|hg19|chr11|111753117|111753118|FRAME_SHIFT_INS||INS|-|-|GT|g.chr11:111753117_111753118insGT|ENST00000530214.1|+|2|90|c.71_72insGT|c.(70-72)acafs|p.N25fs|0.4425|GTTTCCTCACAAACCCACAC|C11orf1_ENST00000528125.1_FIVE_PRIME_UTR/C11orf1_ENST00000260276.3_FRAME_SHIFT_INS_p.N25fs/C11orf1_ENST00000529270.1_FRAME_SHIFT_INS_p.N65fs/FDXACB1_ENST00000260257.4_FIVE_PRIME_FLANK/ALG9_ENST00000524880.1_FIVE_PRIME_FLANK/FDXACB1_ENST00000542429.1_FIVE_PRIME_FLANK|||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||false|false||false|false|||false|false|false||false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|||false|false||false||false||false|false|false||false|||false||]
 chr11	113565234	exm956500	G	A	.	PASS	FUNCOTATION=[TMPRSS5|hg19|chr11|113565234|113565234|DE_NOVO_START_OUT_FRAME||SNP|G|G|A|g.chr11:113565234G>A|ENST00000536856.1|-|6|||||0.5586034912718204|ACCACCCAGCGTGGCGCTAGC|TMPRSS5_ENST00000299882.5_MISSENSE_p.R251C/TMPRSS5_ENST00000540540.1_DE_NOVO_START_OUT_FRAME/TMPRSS5_ENST00000545579.1_MISSENSE_p.R242C/TMPRSS5_ENST00000538955.1_MISSENSE_p.R207C/TMPRSS5_ENST00000544634.1_INTRON/TMPRSS5_ENST00000544476.1_INTRON/TMPRSS5_ENST00000545265.1_FIVE_PRIME_FLANK|||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||false|false||false|false|||false|false|false||false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|||false|false||false||false||false|false|false||false|||false||]
 chr11	113565260	exm1695050	G	A	.	PASS	FUNCOTATION=[TMPRSS5|hg19|chr11|113565260|113565260|DE_NOVO_START_IN_FRAME||SNP|G|G|A|g.chr11:113565260G>A|ENST00000536856.1|-|6|||||0.5760598503740648|GCCCCCACACGTGTGCCGGAA|TMPRSS5_ENST00000299882.5_MISSENSE_p.T242M/TMPRSS5_ENST00000545579.1_MISSENSE_p.T233M/TMPRSS5_ENST00000540540.1_DE_NOVO_START_IN_FRAME/TMPRSS5_ENST00000538955.1_MISSENSE_p.T198M/TMPRSS5_ENST00000544634.1_INTRON/TMPRSS5_ENST00000544476.1_INTRON/TMPRSS5_ENST00000545265.1_FIVE_PRIME_FLANK|||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||false|false||false|false|||false|false|false||false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|||false|false||false||false||false|false|false||false|||false||]
 chr12	11243923	indel.23289	TTTCACC	T	.	PASS	FUNCOTATION=[TAS2R43|hg19|chr12|11243924|11243929|IN_FRAME_DEL||DEL|TTCACC|TTCACC|-|g.chr12:11243924_11243929delTTCACC|ENST00000531678.1|-|1|990_995|c.900_905delGGTGAA|c.(898-906)tgggtgaaa>tga|p.300_302WVK>*|0.35714285714285715|CTTCTCTCCTTTCACCCAGTACCTCA|TAS2R14_ENST00000381852.4_INTRON/PRR4_ENST00000536668.1_INTRON|||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||true|false||false|false|||false|false|false|PRH1-TAS2R14:106707243_%7C_TAS2R43:259289_%7C_PRH1:5554_%7C_PRH1-PRR4:100533464|false|true|true|false|false|false|false|false|true|false|false|false|false|false|false|false|false|false|false|false|867813065|11243924|false|false|0|false|0|false||false|false|false|DIV|false|0x050000080005000402000210|1|false|147|rs867813065]
 chr12	29597130	indel.23912	T	TA	.	PASS	FUNCOTATION=[OVCH1|hg19|chr12|29597130|29597131|FRAME_SHIFT_INS||INS|-|-|A|g.chr12:29597130_29597131insA|ENST00000318184.5|-|24|2965|c.2964_2965insT|c.(2965-2967)aagfs|p.K989fs|0.3825|CTTCTGGCTTGGTCAGAAGA|OVCH1-AS1_ENST00000551108.1_INTRON/OVCH1-AS1_ENST00000549411.1_INTRON|||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||false|false||false|false|||false|false|false||false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|||false|false||false||false||false|false|false||false|||false||]
-chr12	52201139	indel.24708	A	AC	.	PASS	FUNCOTATION=[SCN8A|hg19|chr12|52201139|52201140|FRAME_SHIFT_INS||INS|-|-|C|g.chr12:52201139_52201140insC|ENST00000354534.6|+|27|6047|c.5869_5870insC|c.(5869-5871)aaafs|p.K1957fs|0.465|GAAAAGGAGAAACAGCAGCG|SCN8A_ENST00000545061.1_FRAME_SHIFT_INS_p.K1916fs|||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||false|false||false|false|||false|false|false||false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|||false|false||false||false||false|false|false||false|||false||]
+chr12	52201139	indel.24708	A	AC	.	PASS	FUNCOTATION=[SCN8A|hg19|chr12|52201139|52201140|FRAME_SHIFT_INS||INS|-|-|C|g.chr12:52201139_52201140insC|ENST00000354534.6|+|27|6047|c.5869_5870insC|c.(5869-5871)aaafs|p.K1957fs|0.465|GAAAAGGAGAAACAGCAGCG|SCN8A_ENST00000545061.1_FRAME_SHIFT_INS_p.K1916fs/AC068987.1_ENST00000599343.1_FIVE_PRIME_FLANK|||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||false|false||false|false|||false|false|false||false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|||false|false||false||false||false|false|false||false|||false||]
 chr12	53699726	indel.24975	T	TA	.	PASS	FUNCOTATION=[C12orf10|hg19|chr12|53699726|53699727|FRAME_SHIFT_INS||INS|-|-|A|g.chr12:53699726_53699727insA|ENST00000549488.1|+|2|205|c.35_36insA|c.(34-36)gtgfs|p.D13fs|0.515|TGGATGCTGTGGACAATGGG|C12orf10_ENST00000267103.5_FRAME_SHIFT_INS_p.D176fs/C12orf10_ENST00000548632.1_INTRON|||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||false|false||false|false|||false|false|false||false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|||false|false||false||false||false|false|false||false|||false||]
 chr12	54405153	indel.25064	A	AC	.	PASS	FUNCOTATION=[HOXC8|hg19|chr12|54405153|54405154|FRAME_SHIFT_INS||INS|-|-|C|g.chr12:54405153_54405154insC|ENST00000040584.4|+|2|954|c.717_718insC|c.(718-720)aacfs|p.N240fs|0.44|AAAGGAAGAAAACAAGGACT|RP11-834C11.12_ENST00000513209.1_INTRON/HOXC6_ENST00000394331.3_FIVE_PRIME_FLANK|||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||false|false||false|false|||false|false|false||false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|||false|false||false||false||false|false|false||false|||false||]
 chr12	55248357	rs1048371	G	T	.	PASS	FUNCOTATION=[MUCL1|hg19|chr12|55248357|55248357|DE_NOVO_START_OUT_FRAME||SNP|G|G|T|g.chr12:55248357G>T|ENST00000308796.6|+|1|||||0.44389027431421446|CTGATCTTCAGGTCACCACCA|MUCL1_ENST00000546809.1_INTRON/MUCL1_ENST00000547990.1_INTRON|||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||false|false||false|false|||false|false|false||false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|||false|false||false||false||false|false|false||false|||false||]
@@ -1424,11 +1424,11 @@ chr12	68719304	exm1020408	T	C	.	PASS	FUNCOTATION=[MDM1|hg19|chr12|68719304|68719
 chr12	100452662	indel.26607	G	GA	.	PASS	FUNCOTATION=[UHRF1BP1L|hg19|chr12|100452662|100452663|FRAME_SHIFT_INS||INS|-|-|A|g.chr12:100452662_100452663insA|ENST00000279907.7|-|14|2606|c.2392_2393insT|c.(2392-2394)cctfs|p.P798fs|0.4025|GACGAGGAAGGGGAAAATCT|UHRF1BP1L_ENST00000545232.2_FRAME_SHIFT_INS_p.P448fs|||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||false|false||false|false|||false|false|false||false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|||false|false||false||false||false|false|false||false|||false||]
 chr12	111993688	exm1037604	G	A	.	PASS	FUNCOTATION=[ATXN2|hg19|chr12|111993688|111993688|DE_NOVO_START_IN_FRAME||SNP|G|G|A|g.chr12:111993688G>A|ENST00000542287.2|-|2|||||0.32169576059850374|GTTACTCACCGTAGACTGAGG|ATXN2_ENST00000377617.3_SPLICE_SITE_p.T256M/ATXN2_ENST00000389153.4_DE_NOVO_START_IN_FRAME/ATXN2_ENST00000608853.1_SPLICE_SITE_p.T96M/ATXN2_ENST00000535949.1_INTRON/ATXN2_ENST00000550104.1_SPLICE_SITE_p.T256M/ATXN2_ENST00000549455.1_INTRON|||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||false|false||false|false|||false|false|false||false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|||false|false||false||false||false|false|false||false|||false||]
 chr12	120111850	exm2250630	C	T	.	PASS	FUNCOTATION=[PRKAB1|hg19|chr12|120111850|120111850|DE_NOVO_START_OUT_FRAME||SNP|C|C|T|g.chr12:120111850C>T|ENST00000540121.1|+|3|||||0.5361596009975063|AGTGGACGCACGACCCTTCCG|PRKAB1_ENST00000229328.5_SILENT_p.H135H/PRKAB1_ENST00000541640.1_SILENT_p.H135H|||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||false|false||false|false|||false|false|false||false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|||false|false||false||false||false|false|false||false|||false||]
-chr12	122977328	exm1046212	A	C	.	PASS	FUNCOTATION=[ZCCHC8|hg19|chr12|122977328|122977328|DE_NOVO_START_OUT_FRAME||SNP|A|A|C|g.chr12:122977328A>C|ENST00000543897.1|-|2|||||0.3266832917705736|ATCGTTCACCAATATTCCACT|ZCCHC8_ENST00000536306.1_DE_NOVO_START_OUT_FRAME/ZCCHC8_ENST00000336229.4_MISSENSE_p.L84W|||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||false|false||false|false|||false|false|false||false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|||false|false||false||false||false|false|false||false|||false||]
+chr12	122977328	exm1046212	A	C	.	PASS	FUNCOTATION=[ZCCHC8|hg19|chr12|122977328|122977328|DE_NOVO_START_OUT_FRAME||SNP|A|A|C|g.chr12:122977328A>C|ENST00000543897.1|-|2|||||0.3266832917705736|ATCGTTCACCAATATTCCACT|ZCCHC8_ENST00000536306.1_DE_NOVO_START_OUT_FRAME/ZCCHC8_ENST00000336229.4_MISSENSE_p.L84W/SNORA9_ENST00000516383.1_FIVE_PRIME_FLANK|||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||false|false||false|false|||false|false|false||false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|||false|false||false||false||false|false|false||false|||false||]
 chr12	133727648	indel.28471	T	TA	.	PASS	FUNCOTATION=[ZNF10|hg19|chr12|133727648|133727649|FRAME_SHIFT_INS||INS|-|-|A|g.chr12:133727648_133727649insA|ENST00000248211.6|+|3|290|c.68_69insA|c.(67-69)ttcfs|p.F23fs|0.44|TTGTGGACTTCACCAGGGAG|ZNF10_ENST00000426665.2_FRAME_SHIFT_INS_p.F23fs/CTD-2140B24.4_ENST00000540096.2_FRAME_SHIFT_INS_p.F23fs/ZNF10_ENST00000402932.2_FRAME_SHIFT_INS_p.F23fs/ZNF268_ENST00000416488.1_FRAME_SHIFT_INS_p.F23fs/ZNF10_ENST00000540927.1_INTRON|||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||false|false||false|false|||false|false|false||false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|||false|false||false||false||false|false|false||false|||false||]
 chr12	133780295	indel.28489	A	AC	.	PASS	FUNCOTATION=[ZNF268|hg19|chr12|133780295|133780296|FRAME_SHIFT_INS||INS|-|-|C|g.chr12:133780295_133780296insC|ENST00000536435.2|+|6|2353|c.2023_2024insC|c.(2023-2025)aaafs|p.K675fs|0.4025|CAATGTGCAAAAACCTTTAG|ZNF268_ENST00000228289.5_FRAME_SHIFT_INS_p.K675fs/ZNF268_ENST00000541009.2_THREE_PRIME_UTR/ZNF268_ENST00000542986.2_THREE_PRIME_UTR/ZNF268_ENST00000536899.2_THREE_PRIME_UTR/ZNF268_ENST00000537565.1_FRAME_SHIFT_INS_p.K514fs|||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||false|false||false|false|||false|false|false||false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|||false|false||false||false||false|false|false||false|||false||]
-chr13	21714654	exm1792536	A	G	.	PASS	FUNCOTATION=[SAP18|hg19|chr13|21714654|21714654|DE_NOVO_START_OUT_FRAME||SNP|A|A|G|g.chr13:21714654A>G|ENST00000382533.4|+|1|||||0.6259351620947631|GGCCGACTATAAAGTGTCGAG|SAP18_ENST00000485646.1_FIVE_PRIME_FLANK/SAP18_ENST00000607003.1_FIVE_PRIME_FLANK|||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||false|false||false|false|||false|false|false||false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|||false|false||false||false||false|false|false||false|||false||]
-chr13	37427618	indel.29113	G	GT	.	PASS	FUNCOTATION=[SMAD9|hg19|chr13|37427618|37427619|FRAME_SHIFT_INS||INS|-|-|T|g.chr13:37427618_37427619insT|ENST00000350148.5|-|5|1396|c.1086_1087insA|c.(1087-1089)cacfs|p.H363fs|0.475|CAAAGCCGTGGTGAACTGAC|SMAD9_ENST00000399275.2_FRAME_SHIFT_INS_p.H400fs/SMAD9_ENST00000379826.4_FRAME_SHIFT_INS_p.H400fs|||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||false|false||false|false|||false|false|false||false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|||false|false||false||false||false|false|false||false|||false||]
+chr13	21714654	exm1792536	A	G	.	PASS	FUNCOTATION=[SAP18|hg19|chr13|21714654|21714654|DE_NOVO_START_OUT_FRAME||SNP|A|A|G|g.chr13:21714654A>G|ENST00000382533.4|+|1|||||0.6259351620947631|GGCCGACTATAAAGTGTCGAG|SAP18_ENST00000485646.1_FIVE_PRIME_FLANK/SAP18_ENST00000607003.1_FIVE_PRIME_FLANK/SNORD27_ENST00000516319.1_FIVE_PRIME_FLANK|||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||false|false||false|false|||false|false|false||false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|||false|false||false||false||false|false|false||false|||false||]
+chr13	37427618	indel.29113	G	GT	.	PASS	FUNCOTATION=[SMAD9|hg19|chr13|37427618|37427619|FRAME_SHIFT_INS||INS|-|-|T|g.chr13:37427618_37427619insT|ENST00000350148.5|-|5|1396|c.1086_1087insA|c.(1087-1089)cacfs|p.H363fs|0.475|CAAAGCCGTGGTGAACTGAC|SMAD9_ENST00000399275.2_FRAME_SHIFT_INS_p.H400fs/SMAD9_ENST00000379826.4_FRAME_SHIFT_INS_p.H400fs/SMAD9-AS1_ENST00000437983.2_FIVE_PRIME_FLANK|||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||false|false||false|false|||false|false|false||false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|||false|false||false||false||false|false|false||false|||false||]
 chr13	76335079	exm2251544	C	T	.	PASS	FUNCOTATION=[LMO7|hg19|chr13|76335079|76335079|DE_NOVO_START_OUT_FRAME||SNP|C|C|T|g.chr13:76335079C>T|ENST00000321797.8|+|2|||||0.3516209476309227|ATAATATAAACGTTTTCTTGA|LMO7_ENST00000465261.2_DE_NOVO_START_OUT_FRAME/LMO7_ENST00000341547.4_SILENT_p.N126N/LMO7_ENST00000526202.1_SILENT_p.N35N/LMO7_ENST00000357063.3_SILENT_p.N126N/LMO7_ENST00000377534.3_SILENT_p.N126N/RP11-29G8.3_ENST00000563635.1_RNA|||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||false|false||false|false|||false|false|false||false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|||false|false||false||false||false|false|false||false|||false||]
 chr14	31917379	indel.31575	T	TGG	.	PASS	FUNCOTATION=[DTD2|hg19|chr14|31917379|31917380|FRAME_SHIFT_INS||INS|-|-|GG|g.chr14:31917379_31917380insGG|ENST00000310850.4|-|3|580|c.462_463insCC|c.(463-465)aagfs|p.K155fs|0.365|TGTCCAGCTTTAACACCTGC|RP11-176H8.1_ENST00000547378.1_INTRON/DTD2_ENST00000356180.4_FRAME_SHIFT_INS_p.K155fs/CTD-2213F21.2_ENST00000502430.2_RNA|||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||false|false||false|false|||false|false|false||false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|||false|false||false||false||false|false|false||false|||false||]
 chr14	37717112	variant.31677	G	T	.	PASS	FUNCOTATION=[MIPOL1|hg19|chr14|37717112|37717112|DE_NOVO_START_IN_FRAME||SNP|G|G|T|g.chr14:37717112G>T|ENST00000556451.1|+|5|||||0.3690773067331671|CTGGTCAAAAGGTAAGGACTT|MIPOL1_ENST00000327441.7_SPLICE_SITE_p.D7Y/MIPOL1_ENST00000539062.2_DE_NOVO_START_OUT_FRAME/MIPOL1_ENST00000537471.1_SPLICE_SITE_p.D7Y/MIPOL1_ENST00000396294.2_SPLICE_SITE_p.D7Y/MIPOL1_ENST00000545536.1_DE_NOVO_START_IN_FRAME/MIPOL1_ENST00000536774.1_INTRON|||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||false|false||false|false|||false|false|false||false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|||false|false||false||false||false|false|false||false|||false||]
@@ -1443,18 +1443,18 @@ chr16	66432463	exm1246534	C	T	.	PASS	FUNCOTATION=[CDH5|hg19|chr16|66432463|66432
 chr17	4955266	psy_rs117556792	G	A	.	PASS	FUNCOTATION=[SLC52A1|hg19|chr17|4955266|4955266|DE_NOVO_START_OUT_FRAME||SNP|G|G|A|g.chr17:4955266G>A|ENST00000512825.2|-|1|||||0.486284289276808|GCCAGGCACCGTGGCTCAGGC||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||false|false||false|false|||false|false|false||false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|||false|false||false||false||false|false|false||false|||false||]
 chr17	8021612	exm1290936	C	A	.	PASS	FUNCOTATION=[ALOXE3|hg19|chr17|8021612|8021612|DE_NOVO_START_OUT_FRAME||SNP|C|C|A|g.chr17:8021612C>A|ENST00000448843.2|-|2|||||0.6109725685785536|TATCAGGAGCCTGGGTTCCAC|ALOXE3_ENST00000380149.1_MISSENSE_p.Q55H/ALOXE3_ENST00000318227.3_MISSENSE_p.Q31H|||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||false|false||false|false|||false|false|false||false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|||false|false||false||false||false|false|false||false|||false||]
 chr17	33772713	exm1882307	C	A	.	PASS	FUNCOTATION=[SLFN13|hg19|chr17|33772713|33772713|DE_NOVO_START_IN_FRAME||SNP|C|C|A|g.chr17:33772713C>A|ENST00000533791.1|-|1|||||0.4089775561097257|GAACTTGCACCTTAAAGTATT|SLFN13_ENST00000285013.6_SPLICE_SITE/SLFN13_ENST00000526861.1_SPLICE_SITE/SLFN13_ENST00000542635.1_SPLICE_SITE/SLFN13_ENST00000534689.1_SPLICE_SITE/SLFN13_ENST00000360502.2_FIVE_PRIME_FLANK|||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||false|false||false|false|||false|false|false||false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|||false|false||false||false||false|false|false||false|||false||]
-chr17	43212963	exm2226509	G	T	.	PASS	FUNCOTATION=[ACBD4|hg19|chr17|43212963|43212963|DE_NOVO_START_OUT_FRAME||SNP|G|G|T|g.chr17:43212963G>T|ENST00000431281.1|+|2|||||0.628428927680798|GGTTGAGGTAGGTAAGCCGAA|ACBD4_ENST00000591859.1_INTRON/ACBD4_ENST00000321854.8_FIVE_PRIME_FLANK/ACBD4_ENST00000376955.4_FIVE_PRIME_FLANK/ACBD4_ENST00000398322.3_FIVE_PRIME_FLANK/ACBD4_ENST00000586346.1_FIVE_PRIME_FLANK/ACBD4_ENST00000591136.1_FIVE_PRIME_FLANK/ACBD4_ENST00000592162.1_FIVE_PRIME_FLANK|||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||false|false||false|false|||false|false|false||false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|||false|false||false||false||false|false|false||false|||false||]
-chr17	43212963	rs2291447	G	T	.	PASS	FUNCOTATION=[ACBD4|hg19|chr17|43212963|43212963|DE_NOVO_START_OUT_FRAME||SNP|G|G|T|g.chr17:43212963G>T|ENST00000431281.1|+|2|||||0.628428927680798|GGTTGAGGTAGGTAAGCCGAA|ACBD4_ENST00000591859.1_INTRON/ACBD4_ENST00000321854.8_FIVE_PRIME_FLANK/ACBD4_ENST00000376955.4_FIVE_PRIME_FLANK/ACBD4_ENST00000398322.3_FIVE_PRIME_FLANK/ACBD4_ENST00000586346.1_FIVE_PRIME_FLANK/ACBD4_ENST00000591136.1_FIVE_PRIME_FLANK/ACBD4_ENST00000592162.1_FIVE_PRIME_FLANK|||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||false|false||false|false|||false|false|false||false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|||false|false||false||false||false|false|false||false|||false||]
-chr17	45730168	exm1332330	C	G	.	PASS	FUNCOTATION=[KPNB1|hg19|chr17|45730168|45730168|DE_NOVO_START_OUT_FRAME||SNP|C|C|G|g.chr17:45730168C>G|ENST00000540627.1|+|2|||||0.4164588528678304|ATCTAAAGATCCAGATATCAA|KPNB1_ENST00000290158.4_MISSENSE_p.P70A/KPNB1_ENST00000535458.2_DE_NOVO_START_OUT_FRAME/KPNB1_ENST00000537679.1_FIVE_PRIME_FLANK/KPNB1_ENST00000577918.1_INTRON|||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||false|false||false|false|||false|false|false||false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|||false|false||false||false||false|false|false||false|||false||]
+chr17	43212963	exm2226509	G	T	.	PASS	FUNCOTATION=[ACBD4|hg19|chr17|43212963|43212963|DE_NOVO_START_OUT_FRAME||SNP|G|G|T|g.chr17:43212963G>T|ENST00000431281.1|+|2|||||0.628428927680798|GGTTGAGGTAGGTAAGCCGAA|ACBD4_ENST00000591859.1_INTRON/ACBD4_ENST00000321854.8_FIVE_PRIME_FLANK/PLCD3_ENST00000322765.5_FIVE_PRIME_FLANK/ACBD4_ENST00000376955.4_FIVE_PRIME_FLANK/ACBD4_ENST00000398322.3_FIVE_PRIME_FLANK/PLCD3_ENST00000540511.1_FIVE_PRIME_FLANK/ACBD4_ENST00000586346.1_FIVE_PRIME_FLANK/ACBD4_ENST00000591136.1_FIVE_PRIME_FLANK/ACBD4_ENST00000592162.1_FIVE_PRIME_FLANK|||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||false|false||false|false|||false|false|false||false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|||false|false||false||false||false|false|false||false|||false||]
+chr17	43212963	rs2291447	G	T	.	PASS	FUNCOTATION=[ACBD4|hg19|chr17|43212963|43212963|DE_NOVO_START_OUT_FRAME||SNP|G|G|T|g.chr17:43212963G>T|ENST00000431281.1|+|2|||||0.628428927680798|GGTTGAGGTAGGTAAGCCGAA|ACBD4_ENST00000591859.1_INTRON/ACBD4_ENST00000321854.8_FIVE_PRIME_FLANK/PLCD3_ENST00000322765.5_FIVE_PRIME_FLANK/ACBD4_ENST00000376955.4_FIVE_PRIME_FLANK/ACBD4_ENST00000398322.3_FIVE_PRIME_FLANK/PLCD3_ENST00000540511.1_FIVE_PRIME_FLANK/ACBD4_ENST00000586346.1_FIVE_PRIME_FLANK/ACBD4_ENST00000591136.1_FIVE_PRIME_FLANK/ACBD4_ENST00000592162.1_FIVE_PRIME_FLANK|||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||false|false||false|false|||false|false|false||false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|||false|false||false||false||false|false|false||false|||false||]
+chr17	45730168	exm1332330	C	G	.	PASS	FUNCOTATION=[KPNB1|hg19|chr17|45730168|45730168|DE_NOVO_START_OUT_FRAME||SNP|C|C|G|g.chr17:45730168C>G|ENST00000540627.1|+|2|||||0.4164588528678304|ATCTAAAGATCCAGATATCAA|KPNB1_ENST00000290158.4_MISSENSE_p.P70A/KPNB1_ENST00000535458.2_DE_NOVO_START_OUT_FRAME/KPNB1_ENST00000537679.1_FIVE_PRIME_FLANK/KPNB1_ENST00000577918.1_INTRON/RP11-580I16.2_ENST00000580045.1_FIVE_PRIME_FLANK/RP11-580I16.2_ENST00000582389.1_FIVE_PRIME_FLANK/RP11-580I16.2_ENST00000584391.1_FIVE_PRIME_FLANK|||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||false|false||false|false|||false|false|false||false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|||false|false||false||false||false|false|false||false|||false||]
 chr17	73242591	exm1353848	G	A	.	PASS	FUNCOTATION=[GGA3|hg19|chr17|73242591|73242591|DE_NOVO_START_IN_FRAME||SNP|G|G|A|g.chr17:73242591G>A|ENST00000582486.1|-|3|||||0.5960099750623441|AGGACCTACCGTCAGGGCCTG|GGA3_ENST00000578348.1_DE_NOVO_START_IN_FRAME/GGA3_ENST00000245541.6_SPLICE_SITE_p.T67M/GGA3_ENST00000582717.1_DE_NOVO_START_IN_FRAME/GGA3_ENST00000351904.7_SPLICE_SITE_p.T67M/GGA3_ENST00000537686.1_SPLICE_SITE_p.T67M/GGA3_ENST00000538886.1_INTRON/GGA3_ENST00000579743.1_SPLICE_SITE|||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||false|false||false|false|||false|false|false||false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|||false|false||false||false||false|false|false||false|||false||]
 chr18	72914161	exm1393249	T	C	.	PASS	FUNCOTATION=[ZADH2|hg19|chr18|72914161|72914161|DE_NOVO_START_OUT_FRAME||SNP|T|T|C|g.chr18:72914161T>C|ENST00000537114.2|-|2|||||0.4837905236907731|GCCAACTGTGTATCTGGCACT|ZADH2_ENST00000322342.3_MISSENSE_p.Y115C|||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||false|false||false|false|||false|false|false||false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|||false|false||false||false||false|false|false||false|||false||]
 chr18	72914280	rs7230037	G	A	.	PASS	FUNCOTATION=[ZADH2|hg19|chr18|72914280|72914280|DE_NOVO_START_OUT_FRAME||SNP|G|G|A|g.chr18:72914280G>A|ENST00000537114.2|-|2|||||0.4389027431421446|TGTCAGATGCGTTAACACCAA|ZADH2_ENST00000322342.3_SILENT_p.N75N|||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||false|false||false|false|||false|false|false||false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|||false|false||false||false||false|false|false||false|||false||]
 chr19	6670529	rs3760746	G	A	.	PASS	FUNCOTATION=[TNFSF14|hg19|chr19|6670529|6670529|DE_NOVO_START_OUT_FRAME||SNP|G|G|A|g.chr19:6670529G>A|ENST00000599359.1|-|1|||||0.5336658354114713|AAGAAACCTCGTAAACAAGAA|TNFSF14_ENST00000326176.9_DE_NOVO_START_OUT_FRAME/TNFSF14_ENST00000245912.3_FIVE_PRIME_FLANK|||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||false|false||false|false|||false|false|false||false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|||false|false||false||false||false|false|false||false|||false||]
 chr19	18994994	exm2253710	G	A	.	PASS	FUNCOTATION=[GDF1|hg19|chr19|18994994|18994994|DE_NOVO_START_OUT_FRAME||SNP|G|G|A|g.chr19:18994994G>A|ENST00000247005.6|-|3|||||0.6259351620947631|ATAGCGTAGCGTAGATGGAGT|CERS1_ENST00000429504.2_SILENT_p.Y164Y/CERS1_ENST00000542296.2_SILENT_p.Y66Y/CERS1_ENST00000427170.2_SILENT_p.Y164Y|||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||false|false||false|false|||false|false|false||false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|||false|false||false||false||false|false|false||false|||false||]
 chr19	40542375	variant.55743	G	A	.	PASS	FUNCOTATION=[ZNF780B|hg19|chr19|40542375|40542375|DE_NOVO_START_OUT_FRAME||SNP|G|G|A|g.chr19:40542375G>A|ENST00000221355.6|-|6|||||0.32917705735660846|TGTCCCTGTCGTCCCTCAAAT|ZNF780B_ENST00000434248.1_NONSENSE_p.R131*|||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||false|false||false|false|||false|false|false||false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|||false|false||false||false||false|false|false||false|||false||]
-chr19	41903671	rs892044	A	G	.	PASS	FUNCOTATION=[BCKDHA|hg19|chr19|41903671|41903671|DE_NOVO_START_OUT_FRAME||SNP|A|A|G|g.chr19:41903671A>G|ENST00000269980.2|+|1|||||0.5511221945137157|TCAGGCACATAAAGAGGCAGC|CTC-435M10.3_ENST00000540732.1_INTRON/BCKDHA_ENST00000595085.1_INTRON/BCKDHA_ENST00000457836.2_FIVE_PRIME_FLANK/CTC-435M10.3_ENST00000604424.1_INTRON|||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||false|false||false|false|||false|false|false||false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|||false|false||false||false||false|false|false||false|||false||]
+chr19	41903671	rs892044	A	G	.	PASS	FUNCOTATION=[BCKDHA|hg19|chr19|41903671|41903671|DE_NOVO_START_OUT_FRAME||SNP|A|A|G|g.chr19:41903671A>G|ENST00000269980.2|+|1|||||0.5511221945137157|TCAGGCACATAAAGAGGCAGC|CTC-435M10.3_ENST00000540732.1_INTRON/BCKDHA_ENST00000595085.1_INTRON/EXOSC5_ENST00000221233.4_FIVE_PRIME_FLANK/BCKDHA_ENST00000457836.2_FIVE_PRIME_FLANK/EXOSC5_ENST00000596905.1_FIVE_PRIME_FLANK/CTC-435M10.3_ENST00000604424.1_INTRON/CTC-435M10.10_ENST00000598988.1_FIVE_PRIME_FLANK|||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||false|false||false|false|||false|false|false||false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|||false|false||false||false||false|false|false||false|||false||]
 chr2	3718692	rs13409104	C	T	.	PASS	FUNCOTATION=[ALLC|hg19|chr2|3718692|3718692|DE_NOVO_START_IN_FRAME||SNP|C|C|T|g.chr2:3718692C>T|ENST00000252505.3|+|2|||||0.5211970074812967|CCAGGAAGCACGGCTGATGCT||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||false|false||false|false|||false|false|false||false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|||false|false||false||false||false|false|false||false|||false||]
-chr2	25194771	exm2018058	C	T	.	PASS	FUNCOTATION=[DNAJC27|hg19|chr2|25194771|25194771|START_CODON_SNP||SNP|C|C|T|g.chr2:25194771C>T|ENST00000264711.2|-|1|193|c.3G>A|c.(1-3)atG>atA|p.M1I|0.713216957605985|TGTTGGCCTCCATGGCCCTGG|DNAJC27_ENST00000468467.1_FIVE_PRIME_FLANK/DNAJC27_ENST00000534855.1_FIVE_PRIME_FLANK/DNAJC27-AS1_ENST00000421904.1_RNA/DNAJC27-AS1_ENST00000451291.1_RNA/DNAJC27-AS1_ENST00000421842.1_FIVE_PRIME_FLANK/DNAJC27-AS1_ENST00000422449.1_FIVE_PRIME_FLANK/DNAJC27-AS1_ENST00000428614.1_FIVE_PRIME_FLANK/DNAJC27-AS1_ENST00000434897.1_FIVE_PRIME_FLANK/DNAJC27-AS1_ENST00000445389.1_FIVE_PRIME_FLANK|||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||false|false||false|false|||false|false|false||false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|||false|false||false||false||false|false|false||false|||false||]
+chr2	25194771	exm2018058	C	T	.	PASS	FUNCOTATION=[DNAJC27|hg19|chr2|25194771|25194771|START_CODON_SNP||SNP|C|C|T|g.chr2:25194771C>T|ENST00000264711.2|-|1|193|c.3G>A|c.(1-3)atG>atA|p.M1I|0.713216957605985|TGTTGGCCTCCATGGCCCTGG|DNAJC27_ENST00000468467.1_FIVE_PRIME_FLANK/DNAJC27_ENST00000534855.1_FIVE_PRIME_FLANK/DNAJC27-AS1_ENST00000421904.1_RNA/DNAJC27-AS1_ENST00000451291.1_RNA/SNORD14_ENST00000365609.1_FIVE_PRIME_FLANK/DNAJC27-AS1_ENST00000421842.1_FIVE_PRIME_FLANK/DNAJC27-AS1_ENST00000422449.1_FIVE_PRIME_FLANK/DNAJC27-AS1_ENST00000428614.1_FIVE_PRIME_FLANK/DNAJC27-AS1_ENST00000434897.1_FIVE_PRIME_FLANK/DNAJC27-AS1_ENST00000445389.1_FIVE_PRIME_FLANK|||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||false|false||false|false|||false|false|false||false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|||false|false||false||false||false|false|false||false|||false||]
 chr2	26679385	exm178577	A	C	.	PASS	FUNCOTATION=[DRC1|hg19|chr2|26679385|26679385|NONSTOP||SNP|A|A|C|g.chr2:26679385A>C|ENST00000288710.2|+|17|2297|c.2223A>C|c.(2221-2223)tgA>tgC|p.*741C|0.5411471321695761|CCACAAAATGAGCTGGACCGC||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||false|false||false|false|||false|false|false||false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|||false|false||false||false||false|false|false||false|||false||]
 chr2	27870801	indel.59967	G	GGC	.	PASS	FUNCOTATION=[GPN1|hg19|chr2|27870801|27870802|FRAME_SHIFT_INS||INS|-|-|GC|g.chr2:27870801_27870802insGC|ENST00000610189.1|+|13|1037|c.1030_1031insGC|c.(1030-1032)gacfs|p.D344fs|0.4575|GATGACATTGACCACAGAGG|GPN1_ENST00000264718.3_FRAME_SHIFT_INS_p.D358fs/GPN1_ENST00000424214.1_FRAME_SHIFT_INS_p.D265fs/GPN1_ENST00000515877.1_FRAME_SHIFT_INS_p.D265fs/GPN1_ENST00000458167.2_FRAME_SHIFT_INS_p.D249fs/GPN1_ENST00000407583.3_FRAME_SHIFT_INS_p.D332fs/GPN1_ENST00000503738.1_FRAME_SHIFT_INS_p.D249fs|||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||false|false||false|false|||false|false|false||false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|||false|false||false||false||false|false|false||false|||false||]
 chr2	29093143	exm183039	T	C	.	PASS	FUNCOTATION=[TRMT61B|hg19|chr2|29093143|29093143|START_CODON_SNP||SNP|T|T|C|g.chr2:29093143T>C|ENST00000306108.5|-|1|25|c.1A>G|c.(1-3)Atg>Gtg|p.M1V|0.6533665835411472|GCCATTAGCATAGTGTTTCGC||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||false|false||false|false|||false|false|false||false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|||false|false||false||false||false|false|false||false|||false||]
@@ -1462,7 +1462,7 @@ chr2	54483287	exm194087	A	G	.	PASS	FUNCOTATION=[TSPYL6|hg19|chr2|54483287|544832
 chr2	54483288	exm194088	T	C	.	PASS	FUNCOTATION=[TSPYL6|hg19|chr2|54483288|54483288|START_CODON_SNP||SNP|T|T|C|g.chr2:54483288T>C|ENST00000317802.7|-|1|122|c.1A>G|c.(1-3)Atg>Gtg|p.M1V|0.600997506234414|GGGAGGCTCATGTTGGTAGCG|ACYP2_ENST00000394666.3_INTRON/ACYP2_ENST00000607452.1_INTRON/ACYP2_ENST00000303536.4_INTRON/ACYP2_ENST00000606865.1_INTRON|||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||false|false||false|false|||false|false|false||false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|||false|false||false||false||false|false|false||false|||false||]
 chr2	54558114	exm194103	T	C	.	PASS	FUNCOTATION=[C2orf73|hg19|chr2|54558114|54558114|START_CODON_SNP||SNP|T|T|C|g.chr2:54558114T>C|ENST00000398634.2|+|1|44|c.2T>C|c.(1-3)aTg>aCg|p.M1T|0.5660847880299252|TAGAGGCCCATGGAGGAAAAG|C2orf73_ENST00000405749.1_START_CODON_SNP_p.M1T/C2orf73_ENST00000491538.1_FIVE_PRIME_FLANK|||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||false|false||false|false|||false|false|false||false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|||false|false||false||false||false|false|false||false|||false||]
 chr2	71163086	exm200378	T	C	.	PASS	FUNCOTATION=[ATP6V1B1|hg19|chr2|71163086|71163086|START_CODON_SNP||SNP|T|T|C|g.chr2:71163086T>C|ENST00000234396.4|+|1|75|c.2T>C|c.(1-3)aTg>aCg|p.M1T|0.6508728179551122|GACTGCTCCATGGCCATGGAG|ATP6V1B1_ENST00000412314.1_START_CODON_SNP_p.M1T|||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||true|false|0.6312_%2C_0.3688|false|false|1||false|true|true|ATP6V1B1:525|true|true|false|true|true|false|false|false|false|false|false|true|false|false|false|true|true|false|false|true|11681642|71163086|false|false|0|true|0|false||false|false|false|SNV|true|0x050128000a05170537000100|1|false|120|rs11681642]
-chr2	74709963	exm204648	A	G	.	PASS	FUNCOTATION=[CCDC142|hg19|chr2|74709963|74709963|START_CODON_SNP||SNP|A|A|G|g.chr2:74709963A>G|ENST00000290418.4|-|1|161|c.2T>C|c.(1-3)aTg>aCg|p.M1T|0.6633416458852868|CGCCTGGGCCATGGGGCGGCG|CCDC142_ENST00000393965.3_START_CODON_SNP_p.M1T/CCDC142_ENST00000471713.1_INTRON|||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||false|false||false|false|||false|false|false||false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|||false|false||false||false||false|false|false||false|||false||]
+chr2	74709963	exm204648	A	G	.	PASS	FUNCOTATION=[CCDC142|hg19|chr2|74709963|74709963|START_CODON_SNP||SNP|A|A|G|g.chr2:74709963A>G|ENST00000290418.4|-|1|161|c.2T>C|c.(1-3)aTg>aCg|p.M1T|0.6633416458852868|CGCCTGGGCCATGGGGCGGCG|CCDC142_ENST00000393965.3_START_CODON_SNP_p.M1T/TTC31_ENST00000233623.5_FIVE_PRIME_FLANK/TTC31_ENST00000410003.1_FIVE_PRIME_FLANK/TTC31_ENST00000442235.2_FIVE_PRIME_FLANK/TTC31_ENST00000463189.1_FIVE_PRIME_FLANK/CCDC142_ENST00000471713.1_INTRON|||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||false|false||false|false|||false|false|false||false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|||false|false||false||false||false|false|false||false|||false||]
 chr2	84777170	indel.61662	C	CT	.	PASS	FUNCOTATION=[DNAH6|hg19|chr2|84777170|84777171|FRAME_SHIFT_INS||INS|-|-|T|g.chr2:84777170_84777171insT|ENST00000237449.6|+|8|1482|c.1474_1475insT|c.(1474-1476)cctfs|p.P492fs|0.36|CCTGAAGTCCCTGATAAAAA|DNAH6_ENST00000389394.3_FRAME_SHIFT_INS_p.P492fs/DNAH6_ENST00000398278.2_FRAME_SHIFT_INS_p.P492fs|||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||false|false||false|false|||false|false|false||false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|||false|false||false||false||false|false|false||false|||false||]
 chr2	85629266	exm207178	C	T	.	PASS	FUNCOTATION=[CAPG|hg19|chr2|85629266|85629266|START_CODON_SNP||SNP|C|C|T|g.chr2:85629266C>T|ENST00000409921.1|-|2|70|c.3G>A|c.(1-3)atG>atA|p.M1I|0.5261845386533666|TGGCTGTGTACATGCTGTCTT|CAPG_ENST00000263867.4_START_CODON_SNP_p.M1I/CAPG_ENST00000409670.1_START_CODON_SNP_p.M1I/CAPG_ENST00000409724.1_START_CODON_SNP_p.M1I/CAPG_ENST00000483659.1_FIVE_PRIME_FLANK|||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||false|false||false|false|||false|false|false||false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|||false|false||false||false||false|false|false||false|||false||]
 chr2	86849962	indel.61839	G	GC	.	PASS	FUNCOTATION=[RNF103|hg19|chr2|86849962|86849963|FRAME_SHIFT_INS||INS|-|-|C|g.chr2:86849962_86849963insC|ENST00000237455.4|-|1|1017|c.47_48insG|c.(46-48)ttcfs|p.F16fs|0.6125|GGCCAGGACGAACAGGACCA|RNF103-CHMP3_ENST00000604011.1_INTRON/CHMP3_ENST00000439940.2_INTRON/RNF103_ENST00000477307.1_INTRON|||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||false|false||false|false|||false|false|false||false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|||false|false||false||false||false|false|false||false|||false||]
@@ -1489,7 +1489,7 @@ chr2	191184475	exm253061	A	G	.	PASS	FUNCOTATION=[HIBCH|hg19|chr2|191184475|19118
 chr2	197208381	exm254675	G	A	.	PASS	FUNCOTATION=[HECW2|hg19|chr2|197208381|197208381|DE_NOVO_START_IN_FRAME||SNP|G|G|A|g.chr2:197208381G>A|ENST00000409111.1|-|2|||||0.3117206982543641|AGTTACTTACGTTCCATGAAA|HECW2_ENST00000260983.3_SPLICE_SITE_p.P134S|||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||false|false||false|false|||false|false|false||false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|||false|false||false||false||false|false|false||false|||false||]
 chr2	202122956	exm256838	T	C	.	PASS	FUNCOTATION=[CASP8|hg19|chr2|202122956|202122956|START_CODON_SNP||SNP|T|T|C|g.chr2:202122956T>C|ENST00000358485.4|+|1|198|c.2T>C|c.(1-3)aTg>aCg|p.M1T|0.4937655860349127|AGTGAGGCCATGGAGGGAGGC|CASP8_ENST00000264275.5_INTRON/CASP8_ENST00000432109.2_INTRON/CASP8_ENST00000392258.3_INTRON/CASP8_ENST00000392259.2_INTRON/CASP8_ENST00000392266.3_INTRON/CASP8_ENST00000264274.9_INTRON/CASP8_ENST00000323492.7_FIVE_PRIME_FLANK|||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||false|false||false|false|||false|false|false||false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|||false|false||false||false||false|false|false||false|||false||]
 chr2	209358383	exm261124	G	T	.	PASS	FUNCOTATION=[PTH2R|hg19|chr2|209358383|209358383|NONSTOP||SNP|G|G|T|g.chr2:209358383G>T|ENST00000272847.2|+|13|1865|c.1652G>T|c.(1651-1653)tGa>tTa|p.*551L|0.4538653366583541|GATGTTCTCTGAATGGACATT|AC019185.4_ENST00000424628.1_RNA/PTH2R_ENST00000413482.1_INTRON|||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||false|false||false|false|||false|false|false||false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|||false|false||false||false||false|false|false||false|||false||]
-chr2	216946463	exm263596	A	G	.	PASS	FUNCOTATION=[PECR|hg19|chr2|216946463|216946463|START_CODON_SNP||SNP|A|A|G|g.chr2:216946463A>G|ENST00000265322.7|-|1|77|c.2T>C|c.(1-3)aTg>aCg|p.M1T|0.713216957605985|CCAGGAGGCCATCCCTGCAGC|PECR_ENST00000497889.1_INTRON|||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||false|false||false|false|||false|false|false||false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|||false|false||false||false||false|false|false||false|||false||]
+chr2	216946463	exm263596	A	G	.	PASS	FUNCOTATION=[PECR|hg19|chr2|216946463|216946463|START_CODON_SNP||SNP|A|A|G|g.chr2:216946463A>G|ENST00000265322.7|-|1|77|c.2T>C|c.(1-3)aTg>aCg|p.M1T|0.713216957605985|CCAGGAGGCCATCCCTGCAGC|TMEM169_ENST00000295658.4_FIVE_PRIME_FLANK/TMEM169_ENST00000406027.2_FIVE_PRIME_FLANK/TMEM169_ENST00000437356.2_FIVE_PRIME_FLANK/TMEM169_ENST00000454545.1_FIVE_PRIME_FLANK/PECR_ENST00000497889.1_INTRON|||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||false|false||false|false|||false|false|false||false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|||false|false||false||false||false|false|false||false|||false||]
 chr2	219029932	exm264611	C	T	.	PASS	FUNCOTATION=[CXCR1|hg19|chr2|219029932|219029932|START_CODON_SNP||SNP|C|C|T|g.chr2:219029932C>T|ENST00000295683.2|-|2|124|c.3G>A|c.(1-3)atG>atA|p.M1I|0.456359102244389|TAATATTTGACATGTCCTCTT||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||false|false||false|false|||false|false|false||false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|||false|false||false||false||false|false|false||false|||false||]
 chr2	220462640	exm269819	G	T	.	PASS	FUNCOTATION=[STK11IP|hg19|chr2|220462640|220462640|DE_NOVO_START_IN_FRAME||SNP|G|G|T|g.chr2:220462640G>T|ENST00000456909.1|+|1|||||0.6209476309226932|CAGACGGGGAGGTTCGGTATG|STK11IP_ENST00000295641.10_MISSENSE_p.R1M/STK11IP_ENST00000459692.1_FIVE_PRIME_FLANK|||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||true|false|0.1667_%2C_0.8333|false|false|1||false|true|false|STK11IP:114790|true|true|false|true|true|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|681747|220462640|false|false|0|true|0|false|0.236589_%2C_0.763411|false|false|true|SNV|true|0x05010040000515053f000101|1|false|83|rs681747]
 chr2	225265759	indel.65842	G	GT	.	PASS	FUNCOTATION=[FAM124B|hg19|chr2|225265759|225265760|FRAME_SHIFT_INS||INS|-|-|T|g.chr2:225265759_225265760insT|ENST00000409685.3|-|1|993|c.726_727insA|c.(727-729)cttfs|p.L243fs|0.4975|ATACCTGAAGCAGAATCTTG|FAM124B_ENST00000389874.3_FRAME_SHIFT_INS_p.L243fs/FAM124B_ENST00000243806.2_FRAME_SHIFT_INS_p.L243fs|||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||false|false||false|false|||false|false|false||false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|||false|false||false||false||false|false|false||false|||false||]
@@ -1502,19 +1502,19 @@ chr3	9932407	exm288739	A	G	.	PASS	FUNCOTATION=[JAGN1|hg19|chr3|9932407|9932407|S
 chr3	11643465	exm290624	T	C	.	PASS	FUNCOTATION=[VGLL4|hg19|chr3|11643465|11643465|DE_NOVO_START_IN_FRAME||SNP|T|T|C|g.chr3:11643465T>C|ENST00000413604.1|-|2|||||0.5760598503740648|GCAGGGTCTGTATTCTGGGTT|VGLL4_ENST00000430365.2_MISSENSE_p.I38M/VGLL4_ENST00000273038.3_MISSENSE_p.I32M/VGLL4_ENST00000404339.1_MISSENSE_p.I37M|||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||false|false||false|false|||false|false|false||false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|||false|false||false||false||false|false|false||false|||false||]
 chr3	15643175	rs2279841	G	A	.	PASS	FUNCOTATION=[HACL1|hg19|chr3|15643175|15643175|DE_NOVO_START_OUT_FRAME||SNP|G|G|A|g.chr3:15643175G>A|ENST00000321169.5|-|1|||||0.5685785536159601|AAACACGCGCGTTCTCCAATC|BTD_ENST00000449107.1_FIVE_PRIME_UTR/BTD_ENST00000303498.5_FIVE_PRIME_FLANK/BTD_ENST00000383778.4_FIVE_PRIME_FLANK/HACL1_ENST00000435217.2_FIVE_PRIME_FLANK/BTD_ENST00000437172.1_FIVE_PRIME_FLANK/HACL1_ENST00000451445.2_FIVE_PRIME_FLANK/HACL1_ENST00000456194.2_FIVE_PRIME_FLANK/HACL1_ENST00000457447.2_FIVE_PRIME_FLANK|||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||false|false||false|false|||false|false|false||false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|||false|false||false||false||false|false|false||false|||false||]
 chr3	17131402	exm294647	T	G	.	PASS	FUNCOTATION=[PLCL2|hg19|chr3|17131402|17131402|NONSTOP||SNP|T|T|G|g.chr3:17131402T>G|ENST00000418129.2|+|6|3469|c.3004T>G|c.(3004-3006)Tga>Gga|p.*1002G|0.38154613466334164|AACTGGAGAATGAGGAAACTT|PLCL2_ENST00000432376.1_NONSTOP_p.*1002G|||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||false|false||false|false|||false|false|false||false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|||false|false||false||false||false|false|false||false|||false||]
-chr3	25835983	exm295920	T	C	.	PASS	FUNCOTATION=[OXSM|hg19|chr3|25835983|25835983|NONSTOP||SNP|T|T|C|g.chr3:25835983T>C|ENST00000280701.3|+|3|1477|c.1378T>C|c.(1378-1380)Tag>Cag|p.*460Q|0.3491271820448878|TGCTGGACTGTAGAACATATA|OXSM_ENST00000420173.2_NONSTOP_p.*377Q|||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||false|false||false|false|||false|false|false||false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|||false|false||false||false||false|false|false||false|||false||]
+chr3	25835983	exm295920	T	C	.	PASS	FUNCOTATION=[OXSM|hg19|chr3|25835983|25835983|NONSTOP||SNP|T|T|C|g.chr3:25835983T>C|ENST00000280701.3|+|3|1477|c.1378T>C|c.(1378-1380)Tag>Cag|p.*460Q|0.3491271820448878|TGCTGGACTGTAGAACATATA|OXSM_ENST00000420173.2_NONSTOP_p.*377Q/NGLY1_ENST00000417874.2_FIVE_PRIME_FLANK|||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||false|false||false|false|||false|false|false||false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|||false|false||false||false||false|false|false||false|||false||]
 chr3	27418257	exm296156	A	G	.	PASS	FUNCOTATION=[SLC4A7|hg19|chr3|27418257|27418257|NONSTOP||SNP|A|A|G|g.chr3:27418257A>G|ENST00000435667.2|-|25|3627|c.3406T>C|c.(3406-3408)Tag>Cag|p.*1136Q|0.29925187032418954|GTTCAATTCTATAATGAAGTT|SLC4A7_ENST00000455077.1_NONSTOP_p.*1132Q/SLC4A7_ENST00000295736.5_NONSTOP_p.*1215Q/SLC4A7_ENST00000428386.1_NONSTOP_p.*1091Q/SLC4A7_ENST00000454389.1_NONSTOP_p.*1260Q/SLC4A7_ENST00000440156.1_NONSTOP_p.*1247Q/SLC4A7_ENST00000445684.1_NONSTOP_p.*1211Q/SLC4A7_ENST00000446700.1_NONSTOP_p.*1207Q/SLC4A7_ENST00000437179.1_NONSTOP_p.*1096Q/SLC4A7_ENST00000388777.4_NONSTOP_p.*801Q/SLC4A7_ENST00000425128.2_THREE_PRIME_UTR|||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||false|false||false|false|||false|false|false||false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|||false|false||false||false||false|false|false||false|||false||]
 chr3	36756821	exm298344	A	C	.	PASS	FUNCOTATION=[DCLK3|hg19|chr3|36756821|36756821|NONSTOP||SNP|A|A|C|g.chr3:36756821A>C|ENST00000416516.2|-|5|2436|c.1945T>G|c.(1945-1947)Tag>Gag|p.*649E|0.4488778054862843|GGTGGTGACTATGATACCTGC||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||false|false||false|false|||false|false|false||false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|||false|false||false||false||false|false|false||false|||false||]
 chr3	37458758	exm299371	A	C	.	PASS	FUNCOTATION=[C3orf35|hg19|chr3|37458758|37458758|START_CODON_SNP||SNP|A|A|C|g.chr3:37458758A>C|ENST00000328376.5|+|5|980|c.1A>C|c.(1-3)Atg>Ctg|p.M1L|0.43640897755610975|CTGAATCCACATGAAAACAAT|C3orf35_ENST00000426078.1_START_CODON_SNP_p.M1L/C3orf35_ENST00000425932.1_START_CODON_SNP_p.M1L/C3orf35_ENST00000425564.2_START_CODON_SNP_p.M1L/C3orf35_ENST00000452017.2_START_CODON_SNP_p.M1L/C3orf35_ENST00000481400.1_INTRON|||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||false|false||false|false|||false|false|false||false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|||false|false||false||false||false|false|false||false|||false||]
-chr3	46450604	exm307756	A	C	.	PASS	FUNCOTATION=[CCRL2|hg19|chr3|46450604|46450604|NONSTOP||SNP|A|A|C|g.chr3:46450604A>C|ENST00000399036.3|+|2|1386|c.1034A>C|c.(1033-1035)tAa>tCa|p.*345S|0.4538653366583541|ACCGAAGTGTAAACTAGCATC|CCRL2_ENST00000400882.2_NONSTOP_p.*345S/CCRL2_ENST00000400880.3_NONSTOP_p.*345S/CCRL2_ENST00000357392.4_NONSTOP_p.*357S/CCRL2_ENST00000441909.1_FIVE_PRIME_FLANK|||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||false|false||false|false|||false|false|false||false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|||false|false||false||false||false|false|false||false|||false||]
+chr3	46450604	exm307756	A	C	.	PASS	FUNCOTATION=[CCRL2|hg19|chr3|46450604|46450604|NONSTOP||SNP|A|A|C|g.chr3:46450604A>C|ENST00000399036.3|+|2|1386|c.1034A>C|c.(1033-1035)tAa>tCa|p.*345S|0.4538653366583541|ACCGAAGTGTAAACTAGCATC|CCRL2_ENST00000400882.2_NONSTOP_p.*345S/CCRL2_ENST00000400880.3_NONSTOP_p.*345S/CCRL2_ENST00000357392.4_NONSTOP_p.*357S/CCRL2_ENST00000441909.1_FIVE_PRIME_FLANK/RP11-24F11.2_ENST00000451485.1_FIVE_PRIME_FLANK|||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||false|false||false|false|||false|false|false||false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|||false|false||false||false||false|false|false||false|||false||]
 chr3	48369830	exm310825	A	G	.	PASS	FUNCOTATION=[SPINK8|hg19|chr3|48369830|48369830|START_CODON_SNP||SNP|A|A|G|g.chr3:48369830A>G|ENST00000434006.1|-|1|2|c.2T>C|c.(1-3)aTg>aCg|p.M1T|0.3865336658354115|GATCCCCTTCATGGTGACAGA||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||false|false||false|false|||false|false|false||false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|||false|false||false||false||false|false|false||false|||false||]
 chr3	48506471	exm311380	C	T	.	PASS	FUNCOTATION=[TREX1|hg19|chr3|48506471|48506471|DE_NOVO_START_OUT_FRAME||SNP|C|C|T|g.chr3:48506471C>T|ENST00000296443.9|+|1|||||0.5985037406483791|CCTGATGTGACGGACTGTGAA|ATRIP_ENST00000320211.3_MISSENSE_p.T766M/ATRIP_ENST00000412052.1_MISSENSE_p.T673M/ATRIP_ENST00000346691.4_MISSENSE_p.T739M/ATRIP_ENST00000357105.6_MISSENSE_p.T639M/TREX1_ENST00000422277.2_FIVE_PRIME_FLANK/TREX1_ENST00000433541.1_FIVE_PRIME_FLANK/TREX1_ENST00000436480.2_FIVE_PRIME_FLANK/TREX1_ENST00000444177.1_FIVE_PRIME_FLANK/TREX1_ENST00000456089.1_FIVE_PRIME_FLANK/TREX1_ENST00000492235.1_FIVE_PRIME_FLANK|||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||false|false||false|false|||false|false|false||false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|||false|false||false||false||false|false|false||false|||false||]
-chr3	49053682	indel.74958	A	AT	.	PASS	FUNCOTATION=[DALRD3|hg19|chr3|49053682|49053683|FRAME_SHIFT_INS||INS|-|-|T|g.chr3:49053682_49053683insT|ENST00000440857.1|-|10|1440|c.736_737insA|c.(736-738)ctcfs|p.L246fs|0.5525|CTCTCAAAGAGTGTGGCAAG|DALRD3_ENST00000341949.4_FRAME_SHIFT_INS_p.L413fs/DALRD3_ENST00000313778.5_FRAME_SHIFT_INS_p.L246fs/DALRD3_ENST00000441576.2_FRAME_SHIFT_INS_p.L413fs/DALRD3_ENST00000395462.4_FRAME_SHIFT_INS_p.L246fs|||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||false|false||false|false|||false|false|false||false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|||false|false||false||false||false|false|false||false|||false||]
+chr3	49053682	indel.74958	A	AT	.	PASS	FUNCOTATION=[DALRD3|hg19|chr3|49053682|49053683|FRAME_SHIFT_INS||INS|-|-|T|g.chr3:49053682_49053683insT|ENST00000440857.1|-|10|1440|c.736_737insA|c.(736-738)ctcfs|p.L246fs|0.5525|CTCTCAAAGAGTGTGGCAAG|DALRD3_ENST00000341949.4_FRAME_SHIFT_INS_p.L413fs/DALRD3_ENST00000313778.5_FRAME_SHIFT_INS_p.L246fs/DALRD3_ENST00000441576.2_FRAME_SHIFT_INS_p.L413fs/DALRD3_ENST00000395462.4_FRAME_SHIFT_INS_p.L246fs/NDUFAF3_ENST00000326912.4_FIVE_PRIME_FLANK/NDUFAF3_ENST00000326925.6_FIVE_PRIME_FLANK/NDUFAF3_ENST00000395458.2_FIVE_PRIME_FLANK|||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||false|false||false|false|||false|false|false||false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|||false|false||false||false||false|false|false||false|||false||]
 chr3	51928908	exm319305	A	G	.	PASS	FUNCOTATION=[IQCF1|hg19|chr3|51928908|51928908|NONSTOP||SNP|A|A|G|g.chr3:51928908A>G|ENST00000310914.5|-|4|679|c.616T>C|c.(616-618)Tga>Cga|p.*206R|0.5187032418952618|AGACCACTTCATTCCTTTATT||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||false|false||false|false|||false|false|false||false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|||false|false||false||false||false|false|false||false|||false||]
 chr3	57310755	indel.75748	T	TA	.	PASS	FUNCOTATION=[ASB14|hg19|chr3|57310755|57310756|SPLICE_SITE|FRAME_SHIFT_INS|INS|-|-|A|g.chr3:57310755_57310756insA|ENST00000487349.1|-|10|1708|c.1586_1587insT|c.(1585-1587)acafs|p.N530fs|0.3725|GCGAGGGTTTGCTAAAAAGA|ASB14_ENST00000389601.3_SPLICE_SITE_p.N530fs|||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||false|false||false|false|||false|false|false||false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|||false|false||false||false||false|false|false||false|||false||]
 chr3	67053976	indel.75928	A	AT	.	PASS	FUNCOTATION=[KBTBD8|hg19|chr3|67053976|67053977|FRAME_SHIFT_INS||INS|-|-|T|g.chr3:67053976_67053977insT|ENST00000417314.2|+|3|634|c.585_586insT|c.(586-588)ctgfs|p.L196fs|0.3825|AAAAGACCAACTGATAAGTA|KBTBD8_ENST00000460576.1_INTRON/KBTBD8_ENST00000295568.4_FRAME_SHIFT_INS_p.L170fs/KBTBD8_ENST00000469661.1_INTRON|||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||false|false||false|false|||false|false|false||false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|||false|false||false||false||false|false|false||false|||false||]
 chr3	97806944	exm332468	T	C	.	PASS	FUNCOTATION=[OR5AC2|hg19|chr3|97806944|97806944|NONSTOP||SNP|T|T|C|g.chr3:97806944T>C|ENST00000358642.2|+|1|928|c.928T>C|c.(928-930)Taa>Caa|p.*310Q|0.4114713216957606|TATAAGGAAGTAAACAGTTCC||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||false|false||false|false|||false|false|false||false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|||false|false||false||false||false|false|false||false|||false||]
-chr3	97869139	indel.76151	A	AC	.	PASS	FUNCOTATION=[OR5H14|hg19|chr3|97869139|97869140|FRAME_SHIFT_INS||INS|-|-|C|g.chr3:97869139_97869140insC|ENST00000437310.1|+|1|970|c.910_911insC|c.(910-912)atgfs|p.M304fs|0.345|TTCACAAAAATGTTCAAAAG||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||false|false||false|false|||false|false|false||false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|||false|false||false||false||false|false|false||false|||false||]
+chr3	97869139	indel.76151	A	AC	.	PASS	FUNCOTATION=[OR5H14|hg19|chr3|97869139|97869140|FRAME_SHIFT_INS||INS|-|-|C|g.chr3:97869139_97869140insC|ENST00000437310.1|+|1|970|c.910_911insC|c.(910-912)atgfs|p.M304fs|0.345|TTCACAAAAATGTTCAAAAG|RP11-343D2.11_ENST00000508964.1_FIVE_PRIME_FLANK|||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||false|false||false|false|||false|false|false||false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|||false|false||false||false||false|false|false||false|||false||]
 chr3	100354621	exm333947	C	T	.	PASS	FUNCOTATION=[GPR128|hg19|chr3|100354621|100354621|DE_NOVO_START_OUT_FRAME||SNP|C|C|T|g.chr3:100354621C>T|ENST00000475887.1|+|1|||||0.371571072319202|ACTAGTGCTACGCGAGTGGTT|GPR128_ENST00000273352.3_MISSENSE_p.T183M|||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||false|false||false|false|||false|false|false||false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|||false|false||false||false||false|false|false||false|||false||]
 chr3	100712249	exm334232	T	C	.	PASS	FUNCOTATION=[ABI3BP|hg19|chr3|100712249|100712249|START_CODON_SNP||SNP|T|T|C|g.chr3:100712249T>C|ENST00000471714.1|-|1|111|c.1A>G|c.(1-3)Atg>Gtg|p.M1V|0.4389027431421446|CCACCTCGCATGGGGAATGAT|ABI3BP_ENST00000284322.5_START_CODON_SNP_p.M1V/ABI3BP_ENST00000495063.1_START_CODON_SNP_p.M1V|||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||false|false||false|false|||false|false|false||false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|||false|false||false||false||false|false|false||false|||false||]
 chr3	107941167	exm335539	C	A	.	PASS	FUNCOTATION=[IFT57|hg19|chr3|107941167|107941167|START_CODON_SNP||SNP|C|C|A|g.chr3:107941167C>A|ENST00000264538.3|-|1|251|c.3G>T|c.(1-3)atG>atT|p.M1I|0.6408977556109726|GAGCAGCAGTCATCGCAGAAC||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||false|false||false|false|||false|false|false||false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|||false|false||false||false||false|false|false||false|||false||]
@@ -1522,10 +1522,10 @@ chr3	111261097	exm336575	T	C	.	PASS	FUNCOTATION=[CD96|hg19|chr3|111261097|111261
 chr3	118955888	rs3806698	G	A	.	PASS	FUNCOTATION=[B4GALT4|hg19|chr3|118955888|118955888|DE_NOVO_START_OUT_FRAME||SNP|G|G|A|g.chr3:118955888G>A|ENST00000483209.1|-|2|||||0.4713216957605985|GGCAAGAGCCGTGGAAATCCA|B4GALT4_ENST00000393765.2_DE_NOVO_START_OUT_FRAME/B4GALT4_ENST00000359213.3_DE_NOVO_START_OUT_FRAME/B4GALT4_ENST00000467604.1_DE_NOVO_START_OUT_FRAME/B4GALT4-AS1_ENST00000470790.1_RNA/B4GALT4_ENST00000460321.1_INTRON|||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||false|false||false|false|||false|false|false||false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|||false|false||false||false||false|false|false||false|||false||]
 chr3	119912256	indel.76783	G	GT	.	PASS	FUNCOTATION=[GPR156|hg19|chr3|119912256|119912257|FRAME_SHIFT_INS||INS|-|-|T|g.chr3:119912256_119912257insT|ENST00000464295.1|-|4|695|c.248_249insA|c.(247-249)tccfs|p.S84fs|0.425|ATTGGGACTGGACATCTTCA|GPR156_ENST00000461057.1_FRAME_SHIFT_INS_p.S84fs/GPR156_ENST00000315843.3_FRAME_SHIFT_INS_p.S84fs|||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||false|false||false|false|||false|false|false||false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|||false|false||false||false||false|false|false||false|||false||]
 chr3	120408670	exm341061	T	C	.	PASS	FUNCOTATION=[RABL3|hg19|chr3|120408670|120408670|NONSTOP||SNP|T|T|C|g.chr3:120408670T>C|ENST00000273375.3|-|8|741|c.711A>G|c.(709-711)tgA>tgG|p.*237W|0.3740648379052369|TGAGTGTAATTCAGTCATAAT|RABL3_ENST00000483733.1_NONSTOP_p.*213W/RABL3_ENST00000491398.1_INTRON|||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||false|false||false|false|||false|false|false||false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|||false|false||false||false||false|false|false||false|||false||]
-chr3	122133383	exm2255644	T	C	.	PASS	FUNCOTATION=[WDR5B|hg19|chr3|122133383|122133383|SILENT||SNP|T|T|C|g.chr3:122133383T>C|ENST00000330689.4|-|1|1500|c.993A>G|c.(991-993)taA>taG|p.*331*|0.3516209476309227|TTCAAAGGGATTAGTGGTTAC||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||false|false||false|false|||false|false|false||false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|||false|false||false||false||false|false|false||false|||false||]
+chr3	122133383	exm2255644	T	C	.	PASS	FUNCOTATION=[WDR5B|hg19|chr3|122133383|122133383|SILENT||SNP|T|T|C|g.chr3:122133383T>C|ENST00000330689.4|-|1|1500|c.993A>G|c.(991-993)taA>taG|p.*331*|0.3516209476309227|TTCAAAGGGATTAGTGGTTAC|RP11-299J3.8_ENST00000608015.1_FIVE_PRIME_FLANK/RP11-299J3.8_ENST00000608346.1_FIVE_PRIME_FLANK/RP11-299J3.8_ENST00000608465.1_FIVE_PRIME_FLANK/RP11-299J3.8_ENST00000608756.1_FIVE_PRIME_FLANK/RP11-299J3.8_ENST00000609469.1_FIVE_PRIME_FLANK|||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||false|false||false|false|||false|false|false||false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|||false|false||false||false||false|false|false||false|||false||]
 chr3	122180151	indel.77008	T	TGGGA	.	PASS	FUNCOTATION=[KPNA1|hg19|chr3|122180151|122180152|FRAME_SHIFT_INS||INS|-|-|GGGA|g.chr3:122180151_122180152insGGGA|ENST00000344337.6|-|5|529|c.351_352insTCCC|c.(352-354)attfs|p.I118fs|0.3275|CTTCATCAATAGGAGGGTTA|KPNA1_ENST00000466923.1_FIVE_PRIME_FLANK|||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||false|false||false|false|||false|false|false||false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|||false|false||false||false||false|false|false||false|||false||]
 chr3	130394240	exm350511	A	T	.	PASS	FUNCOTATION=[COL6A6|hg19|chr3|130394240|130394240|NONSTOP||SNP|A|A|T|g.chr3:130394240A>T|ENST00000358511.6|+|36|6822|c.6791A>T|c.(6790-6792)tAa>tTa|p.*2264L|0.371571072319202|CAACATGATTAAAAAAATGCT|COL6A6_ENST00000453409.2_NONSTOP_p.*2264L|||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||false|false||false|false|||false|false|false||false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|||false|false||false||false||false|false|false||false|||false||]
-chr3	131102185	exm2255693	G	A	.	PASS	FUNCOTATION=[NUDT16|hg19|chr3|131102185|131102185|SILENT||SNP|G|G|A|g.chr3:131102185G>A|ENST00000521288.1|+|3|619|c.588G>A|c.(586-588)taG>taA|p.*196*|0.5087281795511222|CTCATCACTAGAGGCAGCCCT|NUDT16_ENST00000502852.1_THREE_PRIME_UTR/NUDT16_ENST00000359850.3_SILENT_p.*163*/NUDT16_ENST00000537561.1_INTRON|||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||false|false||false|false|||false|false|false||false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|||false|false||false||false||false|false|false||false|||false||]
+chr3	131102185	exm2255693	G	A	.	PASS	FUNCOTATION=[NUDT16|hg19|chr3|131102185|131102185|SILENT||SNP|G|G|A|g.chr3:131102185G>A|ENST00000521288.1|+|3|619|c.588G>A|c.(586-588)taG>taA|p.*196*|0.5087281795511222|CTCATCACTAGAGGCAGCCCT|NUDT16_ENST00000502852.1_THREE_PRIME_UTR/NUDT16_ENST00000359850.3_SILENT_p.*163*/NUDT16_ENST00000537561.1_INTRON/RP11-933H2.4_ENST00000502521.1_FIVE_PRIME_FLANK|||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||false|false||false|false|||false|false|false||false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|||false|false||false||false||false|false|false||false|||false||]
 chr3	132075720	exm2038069	T	C	.	PASS	FUNCOTATION=[ACPP|hg19|chr3|132075720|132075720|NONSTOP||SNP|T|T|C|g.chr3:132075720T>C|ENST00000475741.1|+|9|1111|c.1060T>C|c.(1060-1062)Tag>Cag|p.*354Q|0.5087281795511222|CAGTACAGATTAGTGTGCACA|ACPP_ENST00000351273.7_INTRON/ACPP_ENST00000336375.5_NONSTOP_p.*387Q|||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||false|false||false|false|||false|false|false||false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|||false|false||false||false||false|false|false||false|||false||]
 chr3	133928551	exm352529	T	C	.	PASS	FUNCOTATION=[RYK|hg19|chr3|133928551|133928551|START_CODON_SNP||SNP|T|T|C|g.chr3:133928551T>C|ENST00000427044.2|-|5|612|c.1A>G|c.(1-3)Atg>Gtg|p.M1V|0.3192019950124688|TTGTAGCACATTTTCCTTCGT|RYK_ENST00000296084.4_MISSENSE_p.M191V|||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||false|false||false|false|||false|false|false||false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|||false|false||false||false||false|false|false||false|||false||]
 chr3	136046015	indel.77697	G	GTA	.	PASS	FUNCOTATION=[PCCB|hg19|chr3|136046015|136046016|FRAME_SHIFT_INS||INS|-|-|TA|g.chr3:136046015_136046016insTA|ENST00000471595.1|+|12|1235|c.1217_1218insTA|c.(1216-1218)gggfs|p.G407fs|0.5225|AGGAATACGGGGGCATCATC|PCCB_ENST00000483687.1_FRAME_SHIFT_INS_p.G388fs/PCCB_ENST00000490504.1_FRAME_SHIFT_INS_p.G350fs/PCCB_ENST00000469217.1_FRAME_SHIFT_INS_p.G427fs/PCCB_ENST00000251654.4_FRAME_SHIFT_INS_p.G407fs/PCCB_ENST00000468777.1_FRAME_SHIFT_INS_p.G438fs/PCCB_ENST00000466072.1_FRAME_SHIFT_INS_p.G427fs/PCCB_ENST00000462637.1_FRAME_SHIFT_INS_p.G384fs/PCCB_ENST00000482086.1_FRAME_SHIFT_INS_p.G291fs/PCCB_ENST00000478469.1_INTRON/PCCB_ENST00000474833.1_INTRON|||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||false|false||false|false|||false|false|false||false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|||false|false||false||false||false|false|false||false|||false||]
@@ -1548,7 +1548,7 @@ chr4	2632732	exm2240883	A	G	.	PASS	FUNCOTATION=[FAM193A|hg19|chr4|2632732|263273
 chr4	2835561	exm383150	A	G	.	PASS	FUNCOTATION=[SH3BP2|hg19|chr4|2835561|2835561|NONSTOP||SNP|A|A|G|g.chr4:2835561A>G|ENST00000356331.5|+|13|1947|c.1686A>G|c.(1684-1686)tgA>tgG|p.*562W|0.6408977556109726|GGCCTAGGTGATGGCAGTCCA|SH3BP2_ENST00000511747.1_NONSTOP_p.*562W/SH3BP2_ENST00000435136.2_NONSTOP_p.*562W/SH3BP2_ENST00000452765.2_NONSTOP_p.*562W/SH3BP2_ENST00000442312.2_NONSTOP_p.*590W/SH3BP2_ENST00000503393.2_NONSTOP_p.*619W|||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||false|false||false|false|||false|false|false||false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|||false|false||false||false||false|false|false||false|||false||]
 chr4	7765492	exm2275332	C	G	.	PASS	FUNCOTATION=[AFAP1|hg19|chr4|7765492|7765492|NONSTOP||SNP|C|C|G|g.chr4:7765492C>G|ENST00000360265.4|-|16|2428|c.2193G>C|c.(2191-2193)taG>taC|p.*731Y|0.5411471321695761|CTGCTGTCCCCTAGGTCCCGT|AFAP1_ENST00000382543.3_NONSTOP_p.*815Y/AFAP1_ENST00000358461.2_NONSTOP_p.*731Y/AFAP1_ENST00000420658.1_NONSTOP_p.*815Y/AFAP1-AS1_ENST00000608442.1_RNA/AFAP1_ENST00000513842.1_INTRON|||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||false|false||false|false|||false|false|false||false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|||false|false||false||false||false|false|false||false|||false||]
 chr4	39450305	exm2256602	A	G	.	PASS	FUNCOTATION=[KLB|hg19|chr4|39450305|39450305|SILENT||SNP|A|A|G|g.chr4:39450305A>G|ENST00000257408.4|+|5|3231|c.3134A>G|c.(3133-3135)tAa>tGa|p.*1045*|0.38902743142144636|GTTGTTAGCTAAACTGATCTG||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||false|false||false|false|||false|false|false||false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|||false|false||false||false||false|false|false||false|||false||]
-chr4	40810351	exm2074268	A	T	.	PASS	FUNCOTATION=[NSUN7|hg19|chr4|40810351|40810351|NONSTOP||SNP|A|A|T|g.chr4:40810351A>T|ENST00000316607.5|+|11|1895|c.1428A>T|c.(1426-1428)tgA>tgT|p.*476C|0.38403990024937656|AGTGTCTGTGAATGATGTTTT|NSUN7_ENST00000381782.2_MISSENSE_p.N518Y|||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||false|false||false|false|||false|false|false||false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|||false|false||false||false||false|false|false||false|||false||]
+chr4	40810351	exm2074268	A	T	.	PASS	FUNCOTATION=[NSUN7|hg19|chr4|40810351|40810351|NONSTOP||SNP|A|A|T|g.chr4:40810351A>T|ENST00000316607.5|+|11|1895|c.1428A>T|c.(1426-1428)tgA>tgT|p.*476C|0.38403990024937656|AGTGTCTGTGAATGATGTTTT|NSUN7_ENST00000381782.2_MISSENSE_p.N518Y/RP11-632F7.3_ENST00000513127.1_FIVE_PRIME_FLANK|||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||false|false||false|false|||false|false|false||false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|||false|false||false||false||false|false|false||false|||false||]
 chr4	41663502	indel.80694	A	AT	.	PASS	FUNCOTATION=[LIMCH1|hg19|chr4|41663502|41663503|FRAME_SHIFT_INS||INS|-|-|T|g.chr4:41663502_41663503insT|ENST00000514096.1|+|8|1690|c.1470_1471insT|c.(1471-1473)gggfs|p.G491fs|0.39|ATCAAGAAAAGGGAATATAG|LIMCH1_ENST00000313860.7_FRAME_SHIFT_INS_p.G650fs/LIMCH1_ENST00000512946.1_FRAME_SHIFT_INS_p.G650fs/LIMCH1_ENST00000508501.1_FRAME_SHIFT_INS_p.G650fs/LIMCH1_ENST00000396595.3_FRAME_SHIFT_INS_p.G496fs/LIMCH1_ENST00000381753.4_FRAME_SHIFT_INS_p.G484fs/LIMCH1_ENST00000503057.1_FRAME_SHIFT_INS_p.G1035fs/LIMCH1_ENST00000513024.1_FRAME_SHIFT_INS_p.G479fs/LIMCH1_ENST00000512820.1_FRAME_SHIFT_INS_p.G638fs/LIMCH1_ENST00000512632.1_FRAME_SHIFT_INS_p.G650fs/LIMCH1_ENST00000509277.1_FRAME_SHIFT_INS_p.G484fs/LIMCH1_ENST00000511496.1_FRAME_SHIFT_INS_p.G491fs|||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||false|false||false|false|||false|false|false||false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|||false|false||false||false||false|false|false||false|||false||]
 chr4	47593397	exm397774	A	G	.	PASS	FUNCOTATION=[ATP10D|hg19|chr4|47593397|47593397|NONSTOP||SNP|A|A|G|g.chr4:47593397A>G|ENST00000273859.3|+|23|4549|c.4280A>G|c.(4279-4281)tAg>tGg|p.*1427W|0.4239401496259352|AAAGAAAGCTAGATACCCTCC||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||false|false||false|false|||false|false|false||false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|||false|false||false||false||false|false|false||false|||false||]
 chr4	57350953	indel.81056	C	CG	.	PASS	FUNCOTATION=[SRP72|hg19|chr4|57350953|57350954|FRAME_SHIFT_INS||INS|-|-|G|g.chr4:57350953_57350954insG|ENST00000342756.5|+|10|1730|c.1009_1010insG|c.(1009-1011)catfs|p.H337fs|0.3725|AGTCCCGAGCATCTCTTACC|SRP72_ENST00000510663.1_FRAME_SHIFT_INS_p.H276fs|||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||false|false||false|false|||false|false|false||false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|||false|false||false||false||false|false|false||false|||false||]
@@ -1564,12 +1564,12 @@ chr4	87812672	exm411464	A	G	.	PASS	FUNCOTATION=[C4orf36|hg19|chr4|87812672|87812
 chr4	88416233	exm411973	G	A	.	PASS	FUNCOTATION=[SPARCL1|hg19|chr4|88416233|88416233|DE_NOVO_START_IN_FRAME||SNP|G|G|A|g.chr4:88416233G>A|ENST00000503414.1|-|4|||||0.3117206982543641|AGGTGCTACCGTTTCAGCAGT|SPARCL1_ENST00000282470.6_MISSENSE_p.T34M/SPARCL1_ENST00000418378.1_MISSENSE_p.T34M|||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||false|false||false|false|||false|false|false||false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|||false|false||false||false||false|false|false||false|||false||]
 chr4	90830509	variant.82032	G	T	.	PASS	FUNCOTATION=[MMRN1|hg19|chr4|90830509|90830509|DE_NOVO_START_OUT_FRAME||SNP|G|G|T|g.chr4:90830509G>T|ENST00000508372.1|+|2|||||0.3566084788029925|AGGTGGGAAAGGACCTTGTGG|MMRN1_ENST00000394980.1_NONSENSE_p.G236*/MMRN1_ENST00000264790.2_NONSENSE_p.G236*/MMRN1_ENST00000394981.1_NONSENSE_p.G202*|||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||false|false||false|false|||false|false|false||false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|||false|false||false||false||false|false|false||false|||false||]
 chr4	111434635	indel.82436	A	ACG	.	PASS	FUNCOTATION=[ENPEP|hg19|chr4|111434635|111434636|FRAME_SHIFT_INS||INS|-|-|CG|g.chr4:111434635_111434636insCG|ENST00000265162.5|+|7|1715|c.1373_1374insCG|c.(1372-1374)catfs|p.P459fs|0.325|TGTCTTCGCATCCAATTATT|RP11-380D23.1_ENST00000503998.1_RNA|||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||false|false||false|false|||false|false|false||false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|||false|false||false||false||false|false|false||false|||false||]
-chr4	122747017	exm422046	A	G	.	PASS	FUNCOTATION=[BBS7|hg19|chr4|122747017|122747017|NONSTOP||SNP|A|A|G|g.chr4:122747017A>G|ENST00000264499.4|-|19|2330|c.2146T>C|c.(2146-2148)Tga>Cga|p.*716R|0.2743142144638404|TTTGTATGTCATGCTGCATCG||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||false|false||false|false|||false|false|false||false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|||false|false||false||false||false|false|false||false|||false||]
+chr4	122747017	exm422046	A	G	.	PASS	FUNCOTATION=[BBS7|hg19|chr4|122747017|122747017|NONSTOP||SNP|A|A|G|g.chr4:122747017A>G|ENST00000264499.4|-|19|2330|c.2146T>C|c.(2146-2148)Tga>Cga|p.*716R|0.2743142144638404|TTTGTATGTCATGCTGCATCG|CCNA2_ENST00000274026.5_FIVE_PRIME_FLANK|||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||false|false||false|false|||false|false|false||false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|||false|false||false||false||false|false|false||false|||false||]
 chr4	126370567	indel.82760	A	AC	.	PASS	FUNCOTATION=[FAT4|hg19|chr4|126370567|126370568|FRAME_SHIFT_INS||INS|-|-|C|g.chr4:126370567_126370568insC|ENST00000394329.3|+|9|8409|c.8396_8397insC|c.(8395-8397)gaafs|p.E2799fs|0.385|CTTCTGATGAAGACATTGGG|FAT4_ENST00000335110.5_FRAME_SHIFT_INS_p.E1097fs|||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||false|false||false|false|||false|false|false||false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|||false|false||false||false||false|false|false||false|||false||]
 chr4	128651703	exm423993	G	T	.	PASS	FUNCOTATION=[SLC25A31|hg19|chr4|128651703|128651703|START_CODON_SNP||SNP|G|G|T|g.chr4:128651703G>T|ENST00000281154.4|+|1|171|c.3G>T|c.(1-3)atG>atT|p.M1I|0.6134663341645885|TCTCCATCATGCATCGTGAGC||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||false|false||false|false|||false|false|false||false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|||false|false||false||false||false|false|false||false|||false||]
 chr4	129805634	exm424582	A	G	.	PASS	FUNCOTATION=[SCLT1|hg19|chr4|129805634|129805634|NONSTOP||SNP|A|A|G|g.chr4:129805634A>G|ENST00000281142.5|-|21|2569|c.2065T>C|c.(2065-2067)Taa>Caa|p.*689Q|0.3341645885286783|GAATATTTTTAAATATTTTCC|SCLT1_ENST00000503215.1_NONSTOP_p.*285Q/SCLT1_ENST00000439369.2_NONSTOP_p.*176Q/SCLT1_ENST00000434680.1_NONSTOP_p.*308Q/SCLT1_ENST00000502495.1_INTRON|||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||false|false||false|false|||false|false|false||false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|||false|false||false||false||false|false|false||false|||false||]
 chr4	130032945	exm424717	A	G	.	PASS	FUNCOTATION=[C4orf33|hg19|chr4|130032945|130032945|NONSTOP||SNP|A|A|G|g.chr4:130032945A>G|ENST00000281146.5|+|6|1320|c.599A>G|c.(598-600)tAg>tGg|p.*200W|0.30174563591022446|TGTGATATATAGGAGTAATAG|C4orf33_ENST00000425929.1_NONSTOP_p.*200W|||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||false|false||false|false|||false|false|false||false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|||false|false||false||false||false|false|false||false|||false||]
-chr4	144618679	indel.82923	A	AC	.	PASS	FUNCOTATION=[FREM3|hg19|chr4|144618679|144618680|FRAME_SHIFT_INS||INS|-|-|C|g.chr4:144618679_144618680insC|ENST00000329798.5|-|1|3150|c.3149_3150insG|c.(3148-3150)aatfs|p.N1050fs|0.4775|TATTATGCTATTCCCCACTA||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||false|false||false|false|||false|false|false||false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|||false|false||false||false||false|false|false||false|||false||]
+chr4	144618679	indel.82923	A	AC	.	PASS	FUNCOTATION=[FREM3|hg19|chr4|144618679|144618680|FRAME_SHIFT_INS||INS|-|-|C|g.chr4:144618679_144618680insC|ENST00000329798.5|-|1|3150|c.3149_3150insG|c.(3148-3150)aatfs|p.N1050fs|0.4775|TATTATGCTATTCCCCACTA|RP13-578N3.3_ENST00000499587.2_FIVE_PRIME_FLANK|||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||false|false||false|false|||false|false|false||false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|||false|false||false||false||false|false|false||false|||false||]
 chr4	152212603	exm428580	T	G	.	PASS	FUNCOTATION=[PRSS48|hg19|chr4|152212603|152212603|NONSTOP||SNP|T|T|G|g.chr4:152212603T>G|ENST00000455694.2|+|5|987|c.985T>G|c.(985-987)Taa>Gaa|p.*329E|0.42144638403990026|CAGGGGCAGATAACTCACAGG|PRSS48_ENST00000441586.2_NONSTOP_p.*186E/SH3D19_ENST00000604030.1_INTRON|||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||false|false||false|false|||false|false|false||false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|||false|false||false||false||false|false|false||false|||false||]
 chr4	155407595	exm430189	C	A	.	PASS	FUNCOTATION=[DCHS2|hg19|chr4|155407595|155407595|NONSTOP||SNP|C|C|A|g.chr4:155407595C>A|ENST00000456341.2|-|2|2109|c.2109G>T|c.(2107-2109)taG>taT|p.*703Y|0.4139650872817955|TACAGGAAATCTAGGCAAGAT|DCHS2_ENST00000339452.1_INTRON/DCHS2_ENST00000443500.1_NONSTOP_p.*710Y|||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||false|false||false|false|||false|false|false||false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|||false|false||false||false||false|false|false||false|||false||]
 chr4	156274490	indel.83213	T	TC	.	PASS	FUNCOTATION=[MAP9|hg19|chr4|156274490|156274491|FRAME_SHIFT_INS||INS|-|-|C|g.chr4:156274490_156274491insC|ENST00000311277.4|-|11|1647|c.1382_1383insG|c.(1381-1383)aaafs|p.A463fs|0.2825|AGCAGCTTTTTTCTACAGTG|MAP9_ENST00000515654.1_FRAME_SHIFT_INS_p.A439fs/AC097467.2_ENST00000608463.1_RNA/AC097467.2_ENST00000610249.1_RNA/AC097467.2_ENST00000593387.2_RNA/AC097467.2_ENST00000609716.1_RNA/AC097467.2_ENST00000609486.1_RNA/AC097467.2_ENST00000598252.1_RNA/AC097467.2_ENST00000608544.1_RNA/AC097467.2_ENST00000609254.1_RNA/AC097467.2_ENST00000608092.1_RNA/AC097467.2_ENST00000597939.1_RNA/AC097467.2_ENST00000608406.1_RNA/AC097467.2_ENST00000601977.1_RNA/AC097467.2_ENST00000608762.1_RNA/AC097467.2_ENST00000417474.1_FIVE_PRIME_FLANK/AC097467.2_ENST00000594492.1_FIVE_PRIME_FLANK/AC097467.2_ENST00000594666.1_FIVE_PRIME_FLANK/AC097467.2_ENST00000596165.1_FIVE_PRIME_FLANK/AC097467.2_ENST00000596754.1_FIVE_PRIME_FLANK/AC097467.2_ENST00000597831.1_FIVE_PRIME_FLANK/AC097467.2_ENST00000598890.1_FIVE_PRIME_FLANK/AC097467.2_ENST00000600928.1_FIVE_PRIME_FLANK|||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||false|false||false|false|||false|false|false||false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|||false|false||false||false||false|false|false||false|||false||]
@@ -1577,11 +1577,11 @@ chr4	169279300	exm433315	A	G	.	PASS	FUNCOTATION=[DDX60L|hg19|chr4|169279300|1692
 chr4	184633795	exm436211	T	C	.	PASS	FUNCOTATION=[TRAPPC11|hg19|chr4|184633795|184633795|NONSTOP||SNP|T|T|C|g.chr4:184633795T>C|ENST00000334690.6|+|30|3602|c.3400T>C|c.(3400-3402)Tga>Cga|p.*1134R|0.3316708229426434|TGCTGCTGCATGATGTTCAAG|TRAPPC11_ENST00000512476.1_NONSTOP_p.*740R/TRAPPC11_ENST00000357207.4_THREE_PRIME_UTR|||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||false|false||false|false|||false|false|false||false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|||false|false||false||false||false|false|false||false|||false||]
 chr4	185655214	exm436696	C	T	.	PASS	FUNCOTATION=[MLF1IP|hg19|chr4|185655214|185655214|START_CODON_SNP||SNP|C|C|T|g.chr4:185655214C>T|ENST00000281453.5|-|1|74|c.3G>A|c.(1-3)atG>atA|p.M1I|0.7007481296758105|CCCGCGGGGCCATGGTGCCGC|MLF1IP_ENST00000541971.1_START_CODON_SNP_p.M1I|||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||false|false||false|false|||false|false|false||false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|||false|false||false||false||false|false|false||false|||false||]
 chr5	10235354	indel.84117	G	GC	.	PASS	FUNCOTATION=[FAM173B|hg19|chr5|10235354|10235355|FRAME_SHIFT_INS||INS|-|-|C|g.chr5:10235354_10235355insC|ENST00000511437.1|-|4|477|c.463_464insG|c.(463-465)tcgfs|p.S155fs|0.42|ACAACGTTCGAGTACTGCGA|FAM173B_ENST00000510047.1_INTRON/FAM173B_ENST00000280330.8_FIVE_PRIME_UTR/FAM173B_ENST00000510052.1_INTRON|||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||false|false||false|false|||false|false|false||false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|||false|false||false||false||false|false|false||false|||false||]
-chr5	33441193	exm448264	A	G	.	PASS	FUNCOTATION=[TARS|hg19|chr5|33441193|33441193|START_CODON_SNP||SNP|A|A|G|g.chr5:33441193A>G|ENST00000455217.2|+|1|123|c.1A>G|c.(1-3)Atg>Gtg|p.M1V|0.6583541147132169|TCGTTCGCCAATGTTTGAGGA|TARS_ENST00000265112.3_START_CODON_SNP_p.M1V/TARS_ENST00000502553.1_START_CODON_SNP_p.M1V/TARS_ENST00000414361.2_FIVE_PRIME_UTR/TARS_ENST00000541634.1_FIVE_PRIME_UTR|||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||false|false||false|false|||false|false|false||false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|||false|false||false||false||false|false|false||false|||false||]
+chr5	33441193	exm448264	A	G	.	PASS	FUNCOTATION=[TARS|hg19|chr5|33441193|33441193|START_CODON_SNP||SNP|A|A|G|g.chr5:33441193A>G|ENST00000455217.2|+|1|123|c.1A>G|c.(1-3)Atg>Gtg|p.M1V|0.6583541147132169|TCGTTCGCCAATGTTTGAGGA|TARS_ENST00000265112.3_START_CODON_SNP_p.M1V/TARS_ENST00000502553.1_START_CODON_SNP_p.M1V/TARS_ENST00000414361.2_FIVE_PRIME_UTR/TARS_ENST00000541634.1_FIVE_PRIME_UTR/CTD-2203K17.1_ENST00000507251.1_FIVE_PRIME_FLANK|||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||false|false||false|false|||false|false|false||false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|||false|false||false||false||false|false|false||false|||false||]
 chr5	36227619	exm450129	T	C	.	PASS	FUNCOTATION=[NADK2|hg19|chr5|36227619|36227619|DE_NOVO_START_OUT_FRAME||SNP|T|T|C|g.chr5:36227619T>C|ENST00000506945.1|-|2|||||0.2817955112219451|TTGGTGTGAATATGATGTCGT|NADK2_ENST00000381937.4_MISSENSE_p.I117V/NADK2_ENST00000397338.1_DE_NOVO_START_OUT_FRAME/NADK2_ENST00000282512.3_DE_NOVO_START_OUT_FRAME/NADK2_ENST00000514504.1_MISSENSE_p.I117V|||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||false|false||false|false|||false|false|false||false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|||false|false||false||false||false|false|false||false|||false||]
 chr5	43388500	exm453467	A	T	.	PASS	FUNCOTATION=[CCL28|hg19|chr5|43388500|43388500|START_CODON_SNP||SNP|A|A|T|g.chr5:43388500A>T|ENST00000513525.1|-|2|309|c.2T>A|c.(1-3)aTg>aAg|p.M1K|0.4239401496259352|GATGCGACACATATTCACTCT|CCL28_ENST00000361115.4_MISSENSE_p.M48K/CCL28_ENST00000537013.1_MISSENSE_p.M48K|||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||false|false||false|false|||false|false|false||false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|||false|false||false||false||false|false|false||false|||false||]
 chr5	43656769	indel.84762	G	GT	.	PASS	FUNCOTATION=[NNT|hg19|chr5|43656769|43656770|FRAME_SHIFT_INS||INS|-|-|T|g.chr5:43656769_43656770insT|ENST00000264663.5|+|16|2529|c.2308_2309insT|c.(2308-2310)gccfs|p.A770fs|0.415|CTGAAATCTGCCCCTCTCCT|NNT_ENST00000344920.4_FRAME_SHIFT_INS_p.A770fs/NNT_ENST00000512996.2_FRAME_SHIFT_INS_p.A639fs|||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||false|false||false|false|||false|false|false||false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|||false|false||false||false||false|false|false||false|||false||]
-chr5	44809066	exm453799	T	C	.	PASS	FUNCOTATION=[MRPS30|hg19|chr5|44809066|44809066|START_CODON_SNP||SNP|T|T|C|g.chr5:44809066T>C|ENST00000507110.1|+|1|40|c.2T>C|c.(1-3)aTg>aCg|p.M1T|0.5910224438902744|CGGGCAAAGATGGCGGCGGCC||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||false|false||false|false|||false|false|false||false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|||false|false||false||false||false|false|false||false|||false||]
+chr5	44809066	exm453799	T	C	.	PASS	FUNCOTATION=[MRPS30|hg19|chr5|44809066|44809066|START_CODON_SNP||SNP|T|T|C|g.chr5:44809066T>C|ENST00000507110.1|+|1|40|c.2T>C|c.(1-3)aTg>aCg|p.M1T|0.5910224438902744|CGGGCAAAGATGGCGGCGGCC|RP11-53O19.1_ENST00000503179.1_FIVE_PRIME_FLANK/RP11-53O19.1_ENST00000503452.1_FIVE_PRIME_FLANK/RP11-53O19.1_ENST00000505302.1_FIVE_PRIME_FLANK/RP11-53O19.1_ENST00000505401.1_FIVE_PRIME_FLANK/RP11-53O19.1_ENST00000505637.1_FIVE_PRIME_FLANK/RP11-53O19.1_ENST00000508123.1_FIVE_PRIME_FLANK/RP11-53O19.1_ENST00000508945.1_FIVE_PRIME_FLANK/RP11-53O19.1_ENST00000514597.1_FIVE_PRIME_FLANK|||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||false|false||false|false|||false|false|false||false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|||false|false||false||false||false|false|false||false|||false||]
 chr5	54329752	indel.84832	TAA	T	.	PASS	FUNCOTATION=[GZMK|hg19|chr5|54329753|54329754|NONSTOP||DEL|AA|AA|-|g.chr5:54329753_54329754delAA|ENST00000231009.2|+|5|863_864|c.794_795delAA|c.(793-795)taafs|p.*265fs|0.39800995024875624|CATACAAATTAAGTTACAAATA|CTD-2313F11.1_ENST00000609699.1_RNA/CTD-2313F11.1_ENST00000595218.1_RNA/CTD-2313F11.1_ENST00000596137.1_FIVE_PRIME_FLANK/CTD-2313F11.1_ENST00000609792.1_FIVE_PRIME_FLANK|||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||false|false||false|false|||false|false|false||false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|||false|false||false||false||false|false|false||false|||false||]
 chr5	76342200	indel.85335	T	TA	.	PASS	FUNCOTATION=[AGGF1|hg19|chr5|76342200|76342201|FRAME_SHIFT_INS||INS|-|-|A|g.chr5:76342200_76342201insA|ENST00000312916.7|+|6|1281|c.899_900insA|c.(898-900)ttcfs|p.F300fs|0.3725|AAAAAGCCTTCAGTGTTGAA||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||false|false||false|false|||false|false|false||false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|||false|false||false||false||false|false|false||false|||false||]
 chr5	94785984	exm467542	T	C	.	PASS	FUNCOTATION=[FAM81B|hg19|chr5|94785984|94785984|NONSTOP||SNP|T|T|C|g.chr5:94785984T>C|ENST00000283357.5|+|10|1403|c.1357T>C|c.(1357-1359)Taa>Caa|p.*453Q|0.32418952618453867|CCAGGAAGTATAAACCTTTTC||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||false|false||false|false|||false|false|false||false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|||false|false||false||false||false|false|false||false|||false||]
@@ -1592,7 +1592,7 @@ chr5	118860923	indel.86141	C	CAA	.	PASS	FUNCOTATION=[HSD17B4|hg19|chr5|118860923
 chr5	121297728	exm473453	A	G	.	PASS	FUNCOTATION=[SRFBP1|hg19|chr5|121297728|121297728|START_CODON_SNP||SNP|A|A|G|g.chr5:121297728A>G|ENST00000339397.4|+|1|73|c.1A>G|c.(1-3)Atg>Gtg|p.M1V|0.57356608478803|TTCATCTACCATGGCTCAGCC||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||false|false||false|false|||false|false|false||false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|||false|false||false||false||false|false|false||false|||false||]
 chr5	132208861	rs765760	C	T	.	PASS	FUNCOTATION=[LEAP2|hg19|chr5|132208861|132208861|DE_NOVO_START_OUT_FRAME||SNP|C|C|T|g.chr5:132208861C>T|ENST00000296877.2|+|1|||||0.4339152119700748|AGCAAGTGGACGATCTGGGGA|LEAP2_ENST00000485457.1_FIVE_PRIME_FLANK|||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||false|false||false|false|||false|false|false||false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|||false|false||false||false||false|false|false||false|||false||]
 chr5	135513085	newrs55765823	T	TC	.	PASS	FUNCOTATION=[SMAD5|hg19|chr5|135513085|135513086|SPLICE_SITE|FRAME_SHIFT_INS|INS|-|-|C|g.chr5:135513085_135513086insC|ENST00000545279.1|+|8|1674|c.1314_1315insC|c.(1315-1317)cttfs|p.L439fs|0.36|GATTGAGATTATCTTCATGG|SMAD5_ENST00000545620.1_SPLICE_SITE_p.L439fs/SMAD5_ENST00000514641.2_INTRON|||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||false|false||false|false|||false|false|false||false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|||false|false||false||false||false|false|false||false|||false||]
-chr5	137451371	exm480022	T	A	.	PASS	FUNCOTATION=[NME5|hg19|chr5|137451371|137451371|NONSTOP||SNP|T|T|A|g.chr5:137451371T>A|ENST00000265191.2|-|6|688|c.638A>T|c.(637-639)tAa>tTa|p.*213L|0.26433915211970077|ATTTTTTTTTTAATAAGGTTC||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||false|false||false|false|||false|false|false||false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|||false|false||false||false||false|false|false||false|||false||]
+chr5	137451371	exm480022	T	A	.	PASS	FUNCOTATION=[NME5|hg19|chr5|137451371|137451371|NONSTOP||SNP|T|T|A|g.chr5:137451371T>A|ENST00000265191.2|-|6|688|c.638A>T|c.(637-639)tAa>tTa|p.*213L|0.26433915211970077|ATTTTTTTTTTAATAAGGTTC|RNU6-460P_ENST00000391158.1_FIVE_PRIME_FLANK/snoU13_ENST00000459094.1_FIVE_PRIME_FLANK|||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||false|false||false|false|||false|false|false||false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|||false|false||false||false||false|false|false||false|||false||]
 chr5	138210895	rs288036	C	A	.	PASS	FUNCOTATION=[LRRTM2|hg19|chr5|138210895|138210895|DE_NOVO_START_OUT_FRAME||SNP|C|C|A|g.chr5:138210895C>A|ENST00000518785.1|-|1|||||0.4314214463840399|CTTCAGTCTCCTTTCCGCAGC|LRRTM2_ENST00000521094.2_DE_NOVO_START_OUT_FRAME/CTNNA1_ENST00000518825.1_INTRON/LRRTM2_ENST00000274711.6_DE_NOVO_START_OUT_FRAME/CTNNA1_ENST00000302763.7_INTRON/CTNNA1_ENST00000355078.5_INTRON/CTNNA1_ENST00000540387.1_FIVE_PRIME_FLANK/CTNNA1_ENST00000520400.1_INTRON/LRRTM2_ENST00000523537.1_INTRON|||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||false|false||false|false|||false|false|false||false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|||false|false||false||false||false|false|false||false|||false||]
 chr5	139508064	exm481924	G	A	.	PASS	FUNCOTATION=[IGIP|hg19|chr5|139508064|139508064|START_CODON_SNP||SNP|G|G|A|g.chr5:139508064G>A|ENST00000333305.3|+|1|2544|c.3G>A|c.(1-3)atG>atA|p.M1I|0.35910224438902744|TATTAAATATGTGCAGTTATT||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||false|false||false|false|||false|false|false||false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|||false|false||false||false||false|false|false||false|||false||]
 chr5	140213970	exm484005	T	G	.	PASS	FUNCOTATION=[PCDHA7|hg19|chr5|140213970|140213970|START_CODON_SNP||SNP|T|T|G|g.chr5:140213970T>G|ENST00000525929.1|+|1|2|c.2T>G|c.(1-3)aTg>aGg|p.M1R|0.5087281795511222|TAATTTGAAATGGTGTGCCCG|PCDHA6_ENST00000529310.1_INTRON/PCDHA3_ENST00000522353.2_INTRON/PCDHA2_ENST00000526136.1_INTRON/PCDHA4_ENST00000530339.1_INTRON/PCDHA5_ENST00000529859.1_INTRON/PCDHA1_ENST00000504120.2_INTRON/PCDHA1_ENST00000394633.3_INTRON/PCDHA4_ENST00000512229.2_INTRON/PCDHA5_ENST00000529619.1_INTRON/PCDHA6_ENST00000527624.1_INTRON/PCDHA7_ENST00000378125.3_SPLICE_SITE_p.M1R|||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||false|false||false|false|||false|false|false||false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|||false|false||false||false||false|false|false||false|||false||]
@@ -1607,7 +1607,7 @@ chr5	153409127	indel.87683	G	GA	.	PASS	FUNCOTATION=[FAM114A2|hg19|chr5|153409127
 chr5	169675703	exm2094972	A	G	.	PASS	FUNCOTATION=[LCP2|hg19|chr5|169675703|169675703|NONSTOP||SNP|A|A|G|g.chr5:169675703A>G|ENST00000046794.5|-|21|2216|c.1600T>C|c.(1600-1602)Tag>Cag|p.*534Q|0.4114713216957606|ATAACTTGCTATGGGTACCCT|LCP2_ENST00000521416.1_NONSTOP_p.*329Q/C5orf58_ENST00000517575.1_INTRON|||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||false|false||false|false|||false|false|false||false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|||false|false||false||false||false|false|false||false|||false||]
 chr5	176943944	exm507743	C	T	.	PASS	FUNCOTATION=[DDX41|hg19|chr5|176943944|176943944|START_CODON_SNP||SNP|C|C|T|g.chr5:176943944C>T|ENST00000507955.1|-|1|527|c.3G>A|c.(1-3)atG>atA|p.M1I|0.6384039900249376|CCGACTCCTCCATTCTTTGCT|DDX41_ENST00000506965.1_INTRON|||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||false|false||false|false|||false|false|false||false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|||false|false||false||false||false|false|false||false|||false||]
 chr5	180167058	exm511288	T	A	.	PASS	FUNCOTATION=[OR2Y1|hg19|chr5|180167058|180167058|START_CODON_SNP||SNP|T|T|A|g.chr5:180167058T>A|ENST00000307832.2|-|1|42|c.1A>T|c.(1-3)Atg>Ttg|p.M1L|0.4389027431421446|AAACTTCCCATGGCCTTTTGC||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||false|false||false|false|||false|false|false||false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|||false|false||false||false||false|false|false||false|||false||]
-chr5	180622167	exm511746	C	G	.	PASS	FUNCOTATION=[TRIM7|hg19|chr5|180622167|180622167|NONSTOP||SNP|C|C|G|g.chr5:180622167C>G|ENST00000274773.7|-|7|1597|c.1535G>C|c.(1534-1536)tGa>tCa|p.*512S|0.6583541147132169|CAGTGCCCCTCAAGGCCAGAT|TRIM7_ENST00000393315.1_NONSTOP_p.*304S/TRIM7_ENST00000361809.3_NONSTOP_p.*304S/TRIM7_ENST00000393319.3_NONSTOP_p.*330S/TRIM7_ENST00000422067.2_NONSTOP_p.*304S/TRIM7_ENST00000504241.1_INTRON|||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||false|false||false|false|||false|false|false||false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|||false|false||false||false||false|false|false||false|||false||]
+chr5	180622167	exm511746	C	G	.	PASS	FUNCOTATION=[TRIM7|hg19|chr5|180622167|180622167|NONSTOP||SNP|C|C|G|g.chr5:180622167C>G|ENST00000274773.7|-|7|1597|c.1535G>C|c.(1534-1536)tGa>tCa|p.*512S|0.6583541147132169|CAGTGCCCCTCAAGGCCAGAT|TRIM7_ENST00000393315.1_NONSTOP_p.*304S/TRIM7_ENST00000361809.3_NONSTOP_p.*304S/TRIM7_ENST00000393319.3_NONSTOP_p.*330S/TRIM7_ENST00000422067.2_NONSTOP_p.*304S/TRIM7_ENST00000504241.1_INTRON/CTC-338M12.6_ENST00000419707.2_FIVE_PRIME_FLANK/CTC-338M12.6_ENST00000502812.2_FIVE_PRIME_FLANK/CTC-338M12.6_ENST00000509080.1_FIVE_PRIME_FLANK/CTC-338M12.6_ENST00000511517.1_FIVE_PRIME_FLANK/CTC-338M12.6_ENST00000512508.1_FIVE_PRIME_FLANK/CTC-338M12.2_ENST00000513771.1_FIVE_PRIME_FLANK|||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||false|false||false|false|||false|false|false||false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|||false|false||false||false||false|false|false||false|||false||]
 chr6	4068932	exm513626	A	G	.	PASS	FUNCOTATION=[FAM217A|hg19|chr6|4068932|4068932|NONSTOP||SNP|A|A|G|g.chr6:4068932A>G|ENST00000274673.3|-|7|1929|c.1525T>C|c.(1525-1527)Taa>Caa|p.*509Q|0.3790523690773067|GAAAAGAGTTATTTTTGTTCA|FAM217A_ENST00000380188.2_INTRON|||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||false|false||false|false|||false|false|false||false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|||false|false||false||false||false|false|false||false|||false||]
 chr6	6251131	indel.88686	T	TC	.	PASS	FUNCOTATION=[F13A1|hg19|chr6|6251131|6251132|FRAME_SHIFT_INS||INS|-|-|C|g.chr6:6251131_6251132insC|ENST00000264870.3|-|5|869|c.602_603insG|c.(601-603)gaafs|p.R202fs|0.355|CTCTTCTCTTTCTTTCTCAT||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||false|false||false|false|||false|false|false||false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|||false|false||false||false||false|false|false||false|||false||]
 chr6	18149358	rs9333569	T	C	.	PASS	FUNCOTATION=[TPMT|hg19|chr6|18149358|18149358|START_CODON_SNP||SNP|T|T|C|g.chr6:18149358T>C|ENST00000309983.4|-|2|87|c.1A>G|c.(1-3)Atg>Gtg|p.M1V|0.34663341645885287|GTACCATCCATAGTTTCAGAG||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||false|false||false|false|||false|false|false||false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|||false|false||false||false||false|false|false||false|||false||]
@@ -1615,15 +1615,15 @@ chr6	24403275	exm519703	A	G	.	PASS	FUNCOTATION=[MRS2|hg19|chr6|24403275|24403275
 chr6	24533938	exm520091	T	C	.	PASS	FUNCOTATION=[ALDH5A1|hg19|chr6|24533938|24533938|NONSTOP||SNP|T|T|C|g.chr6:24533938T>C|ENST00000491546.1|+|9|1652|c.1522T>C|c.(1522-1524)Tag>Cag|p.*508Q|0.428927680798005|CGGGGGCTTGTAGGATTCTTT|ALDH5A1_ENST00000357578.3_NONSTOP_p.*536Q/ALDH5A1_ENST00000348925.2_NONSTOP_p.*549Q/ALDH5A1_ENST00000546278.1_NONSTOP_p.*448Q|||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||false|false||false|false|||false|false|false||false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|||false|false||false||false||false|false|false||false|||false||]
 chr6	24701770	indel.89060	C	CG	.	PASS	FUNCOTATION=[ACOT13|hg19|chr6|24701770|24701771|FRAME_SHIFT_INS||INS|-|-|G|g.chr6:24701770_24701771insG|ENST00000230048.4|+|3|543|c.350_351insG|c.(349-351)tctfs|p.V118fs|0.35|CATTTACCTCTGTGGATCTG|ACOT13_ENST00000537591.1_FRAME_SHIFT_INS_p.V95fs/RP1-30M3.5_ENST00000607014.1_RNA/ACOT13_ENST00000476436.1_INTRON|||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||false|false||false|false|||false|false|false||false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|||false|false||false||false||false|false|false||false|||false||]
 chr6	26027478	exm2118520	C	T	.	PASS	FUNCOTATION=[HIST1H4B|hg19|chr6|26027478|26027478|START_CODON_SNP||SNP|C|C|T|g.chr6:26027478C>T|ENST00000377364.3|-|1|3|c.3G>A|c.(1-3)atG>atA|p.M1I|0.5211970074812967|CGCGACCAGACATGTCTAACC||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||false|false||false|false|||false|false|false||false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|||false|false||false||false||false|false|false||false|||false||]
-chr6	26216869	exm2118836	C	A	.	PASS	FUNCOTATION=[HIST1H2BG|hg19|chr6|26216869|26216869|START_CODON_SNP||SNP|C|C|A|g.chr6:26216869C>A|ENST00000244601.3|-|1|4|c.3G>T|c.(1-3)atG>atT|p.M1I|0.4488778054862843|CTGGTTCAGGCATGCTGTCAG||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||false|false||false|false|||false|false|false||false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|||false|false||false||false||false|false|false||false|||false||]
-chr6	27114910	exm523525	G	A	.	PASS	FUNCOTATION=[HIST1H2AH|hg19|chr6|27114910|27114910|START_CODON_SNP||SNP|G|G|A|g.chr6:27114910G>A|ENST00000377459.1|+|1|50|c.3G>A|c.(1-3)atG>atA|p.M1I|0.5361596009975063|TGACCAGTATGTCTGGACGTG||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||false|false||false|false|||false|false|false||false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|||false|false||false||false||false|false|false||false|||false||]
-chr6	28056967	indel.89354	A	AC	.	PASS	FUNCOTATION=[ZNF165|hg19|chr6|28056967|28056968|FRAME_SHIFT_INS||INS|-|-|C|g.chr6:28056967_28056968insC|ENST00000377325.1|+|4|1733|c.1177_1178insC|c.(1177-1179)attfs|p.I393fs|0.435|CATCGGCGAATTCACACTGG||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||false|false||false|false|||false|false|false||false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|||false|false||false||false||false|false|false||false|||false||]
+chr6	26216869	exm2118836	C	A	.	PASS	FUNCOTATION=[HIST1H2BG|hg19|chr6|26216869|26216869|START_CODON_SNP||SNP|C|C|A|g.chr6:26216869C>A|ENST00000244601.3|-|1|4|c.3G>T|c.(1-3)atG>atT|p.M1I|0.4488778054862843|CTGGTTCAGGCATGCTGTCAG|HIST1H2AE_ENST00000303910.2_FIVE_PRIME_FLANK|||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||false|false||false|false|||false|false|false||false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|||false|false||false||false||false|false|false||false|||false||]
+chr6	27114910	exm523525	G	A	.	PASS	FUNCOTATION=[HIST1H2AH|hg19|chr6|27114910|27114910|START_CODON_SNP||SNP|G|G|A|g.chr6:27114910G>A|ENST00000377459.1|+|1|50|c.3G>A|c.(1-3)atG>atA|p.M1I|0.5361596009975063|TGACCAGTATGTCTGGACGTG|HIST1H2BK_ENST00000356950.1_FIVE_PRIME_FLANK/HIST1H2BK_ENST00000396891.4_FIVE_PRIME_FLANK/MIR3143_ENST00000584253.1_FIVE_PRIME_FLANK|||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||false|false||false|false|||false|false|false||false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|||false|false||false||false||false|false|false||false|||false||]
+chr6	28056967	indel.89354	A	AC	.	PASS	FUNCOTATION=[ZNF165|hg19|chr6|28056967|28056968|FRAME_SHIFT_INS||INS|-|-|C|g.chr6:28056967_28056968insC|ENST00000377325.1|+|4|1733|c.1177_1178insC|c.(1177-1179)attfs|p.I393fs|0.435|CATCGGCGAATTCACACTGG|ZSCAN12P1_ENST00000529104.1_FIVE_PRIME_FLANK|||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||false|false||false|false|||false|false|false||false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|||false|false||false||false||false|false|false||false|||false||]
 chr6	29795623	exm526510	T	C	.	PASS	FUNCOTATION=[HLA-G|hg19|chr6|29795623|29795623|START_CODON_SNP||SNP|T|T|C|g.chr6:29795623T>C|ENST00000360323.6|+|1|26|c.2T>C|c.(1-3)aTg>aCg|p.M1T|0.6758104738154613|ACGCCAAGGATGGTGGTCATG|HLA-G_ENST00000376828.2_MISSENSE_p.M6T/HLA-G_ENST00000376818.3_START_CODON_SNP_p.M1T/HLA-G_ENST00000376815.3_START_CODON_SNP_p.M1T/HLA-G_ENST00000428701.1_START_CODON_SNP_p.M1T|||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||false|false||false|false|||false|false|false||false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|||false|false||false||false||false|false|false||false|||false||]
 chr6	30080582	exm527119	T	C	.	PASS	FUNCOTATION=[TRIM31|hg19|chr6|30080582|30080582|START_CODON_SNP||SNP|T|T|C|g.chr6:30080582T>C|ENST00000376734.3|-|2|127|c.1A>G|c.(1-3)Atg>Gtg|p.M1V|0.46633416458852867|CCACTGGCCATGACAGAACAA|TRIM31_ENST00000540829.1_START_CODON_SNP_p.M1V/TRIM31_ENST00000485864.1_FIVE_PRIME_FLANK/TRIM31-AS1_ENST00000440874.1_RNA|||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||false|false||false|false|||false|false|false||false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|||false|false||false||false||false|false|false||false|||false||]
 chr6	31828246	indel.89874	C	CCT	.	PASS	FUNCOTATION=[NEU1|hg19|chr6|31828246|31828247|FRAME_SHIFT_INS||INS|-|-|CT|g.chr6:31828246_31828247insCT|ENST00000375631.4|-|4|898|c.767_768insAG|c.(766-768)cagfs|p.E257fs|0.5925|ATCATTTTCCTGCTTGGGCT||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||false|false||false|false|||false|false|false||false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|||false|false||false||false||false|false|false||false|||false||]
 chr6	32731258	exm-rs1573649	G	A	.	PASS	FUNCOTATION=[HLA-DQB2|hg19|chr6|32731258|32731258|DE_NOVO_START_IN_FRAME||SNP|G|G|A|g.chr6:32731258G>A|ENST00000437316.2|-|1|||||0.5236907730673317|CTTCCAAGACGTAAGTGAGAC|HLA-DQB2_ENST00000435145.2_DE_NOVO_START_IN_FRAME/HLA-DQB2_ENST00000411527.1_DE_NOVO_START_IN_FRAME|||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||false|false||false|false|||false|false|false||false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|||false|false||false||false||false|false|false||false|||false||]
 chr6	32731258	rs1573649	G	A	.	PASS	FUNCOTATION=[HLA-DQB2|hg19|chr6|32731258|32731258|DE_NOVO_START_IN_FRAME||SNP|G|G|A|g.chr6:32731258G>A|ENST00000437316.2|-|1|||||0.5236907730673317|CTTCCAAGACGTAAGTGAGAC|HLA-DQB2_ENST00000435145.2_DE_NOVO_START_IN_FRAME/HLA-DQB2_ENST00000411527.1_DE_NOVO_START_IN_FRAME|||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||false|false||false|false|||false|false|false||false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|||false|false||false||false||false|false|false||false|||false||]
-chr6	33172446	exm537955	A	G	.	PASS	FUNCOTATION=[HSD17B8|hg19|chr6|33172446|33172446|START_CODON_SNP||SNP|A|A|G|g.chr6:33172446A>G|ENST00000374662.3|+|1|28|c.1A>G|c.(1-3)Atg>Gtg|p.M1V|0.6658354114713217|ACAGCCCGCCATGGCGTCTCA|HSD17B8_ENST00000469186.1_FIVE_PRIME_FLANK|||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||false|false||false|false|||false|false|false||false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|||false|false||false||false||false|false|false||false|||false||]
+chr6	33172446	exm537955	A	G	.	PASS	FUNCOTATION=[HSD17B8|hg19|chr6|33172446|33172446|START_CODON_SNP||SNP|A|A|G|g.chr6:33172446A>G|ENST00000374662.3|+|1|28|c.1A>G|c.(1-3)Atg>Gtg|p.M1V|0.6658354114713217|ACAGCCCGCCATGGCGTCTCA|RING1_ENST00000374656.4_FIVE_PRIME_FLANK/RXRB_ENST00000374680.3_FIVE_PRIME_FLANK/RXRB_ENST00000374685.4_FIVE_PRIME_FLANK/RXRB_ENST00000413614.2_FIVE_PRIME_FLANK/HSD17B8_ENST00000469186.1_FIVE_PRIME_FLANK/RING1_ENST00000478431.1_FIVE_PRIME_FLANK/RXRB_ENST00000544186.1_FIVE_PRIME_FLANK/MIR219-1_ENST00000362166.1_FIVE_PRIME_FLANK|||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||false|false||false|false|||false|false|false||false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|||false|false||false||false||false|false|false||false|||false||]
 chr6	39554075	indel.90611	T	TGC	.	PASS	FUNCOTATION=[KIF6|hg19|chr6|39554075|39554076|FRAME_SHIFT_INS||INS|-|-|GC|g.chr6:39554075_39554076insGC|ENST00000287152.7|-|8|1047|c.951_952insGC|c.(952-954)atgfs|p.M318fs|0.425|TTGCAATCATAGTTGTCATG|KIF6_ENST00000373215.3_FRAME_SHIFT_INS_p.M318fs/KIF6_ENST00000373216.3_FRAME_SHIFT_INS_p.M318fs/KIF6_ENST00000373213.4_FRAME_SHIFT_INS_p.M157fs/KIF6_ENST00000538893.1_FRAME_SHIFT_INS_p.M318fs|||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||false|false||false|false|||false|false|false||false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|||false|false||false||false||false|false|false||false|||false||]
 chr6	42713809	exm547280	C	T	.	PASS	FUNCOTATION=[TBCC|hg19|chr6|42713809|42713809|START_CODON_SNP||SNP|C|C|T|g.chr6:42713809C>T|ENST00000372876.1|-|1|26|c.3G>A|c.(1-3)atG>atA|p.M1I|0.5960099750623441|TGACGGACTCCATATTGGCTT|TBCC_ENST00000244625.2_START_CODON_SNP_p.M1I|||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||false|false||false|false|||false|false|false||false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|||false|false||false||false||false|false|false||false|||false||]
 chr6	42713810	exm547281	A	C	.	PASS	FUNCOTATION=[TBCC|hg19|chr6|42713810|42713810|START_CODON_SNP||SNP|A|A|C|g.chr6:42713810A>C|ENST00000372876.1|-|1|25|c.2T>G|c.(1-3)aTg>aGg|p.M1R|0.5935162094763092|GACGGACTCCATATTGGCTTC|TBCC_ENST00000244625.2_START_CODON_SNP_p.M1R|||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||false|false||false|false|||false|false|false||false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|||false|false||false||false||false|false|false||false|||false||]
@@ -1631,7 +1631,7 @@ chr6	42858524	exm547465	C	T	.	PASS	FUNCOTATION=[C6orf226|hg19|chr6|42858524|4285
 chr6	49604523	newrs121918588	C	A	.	PASS	FUNCOTATION=[RHAG|hg19|chr6|49604523|49604523|START_CODON_SNP||SNP|C|C|A|g.chr6:49604523C>A|ENST00000371175.4|-|1|30|c.3G>T|c.(1-3)atG>atT|p.M1I|0.41895261845386533|ATGTGAACCTCATGTTTGTGG|RHAG_ENST00000229810.7_START_CODON_SNP_p.M1I|||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||false|false||false|false|||false|false|false||false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|||false|false||false||false||false|false|false||false|||false||]
 chr6	52285209	exm555450	A	G	.	PASS	FUNCOTATION=[EFHC1|hg19|chr6|52285209|52285209|START_CODON_SNP||SNP|A|A|G|g.chr6:52285209A>G|ENST00000371068.5|+|1|104|c.1A>G|c.(1-3)Atg>Gtg|p.M1V|0.6134663341645885|ACCGGCTGCAATGGTGTCCAA|EFHC1_ENST00000433625.2_FIVE_PRIME_UTR/EFHC1_ENST00000538167.1_FIVE_PRIME_FLANK/EFHC1_ENST00000491749.1_INTRON|||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||false|false||false|false|||false|false|false||false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|||false|false||false||false||false|false|false||false|||false||]
 chr6	76782204	exm562176	A	T	.	PASS	FUNCOTATION=[IMPG1|hg19|chr6|76782204|76782204|START_CODON_SNP||SNP|A|A|T|g.chr6:76782204A>T|ENST00000369950.3|-|1|192|c.2T>A|c.(1-3)aTg>aAg|p.M1K|0.3167082294264339|TTCCAAATACATTCTGGCTTT|IMPG1_ENST00000369963.3_START_CODON_SNP_p.M1K|||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||false|false||false|false|||false|false|false||false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|||false|false||false||false||false|false|false||false|||false||]
-chr6	84567107	exm563671	A	C	.	PASS	FUNCOTATION=[RIPPLY2|hg19|chr6|84567107|84567107|NONSTOP||SNP|A|A|C|g.chr6:84567107A>C|ENST00000369689.1|+|4|537|c.386A>C|c.(385-387)tAa>tCa|p.*129S|0.2793017456359102|TGTGAAAATTAATCTGATTAG|RIPPLY2_ENST00000369687.1_NONSTOP_p.*71S|||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||false|false||false|false|||false|false|false||false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|||false|false||false||false||false|false|false||false|||false||]
+chr6	84567107	exm563671	A	C	.	PASS	FUNCOTATION=[RIPPLY2|hg19|chr6|84567107|84567107|NONSTOP||SNP|A|A|C|g.chr6:84567107A>C|ENST00000369689.1|+|4|537|c.386A>C|c.(385-387)tAa>tCa|p.*129S|0.2793017456359102|TGTGAAAATTAATCTGATTAG|RIPPLY2_ENST00000369687.1_NONSTOP_p.*71S/CYB5R4_ENST00000369679.4_FIVE_PRIME_FLANK/CYB5R4_ENST00000369681.5_FIVE_PRIME_FLANK|||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||false|false||false|false|||false|false|false||false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|||false|false||false||false||false|false|false||false|||false||]
 chr6	88255394	var_6_88255394	CTTT	C	.	PASS	FUNCOTATION=[RARS2|hg19|chr6|88255395|88255397|IN_FRAME_DEL||DEL|TTT|TTT|-|g.chr6:88255395_88255397delTTT|ENST00000369536.5|-|7|521_523|c.472_474delAAA|c.(472-474)aaadel|p.K158del|0.2903225806451613|CTAAAGCTTCTTTGAGATTTGCT||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||true|false||false|false|||false|false|false|RARS2:57038|false|true|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|757743894|88255395|false|false|0|false|0|false|0.999966_%2C_3.4343e-005|false|false|false|DIV|true|0x050000000005040402000200|1|false|144|rs757743894]
 chr6	109954114	exm571178	T	A	.	PASS	FUNCOTATION=[AK9|hg19|chr6|109954114|109954114|NONSTOP||SNP|T|T|A|g.chr6:109954114T>A|ENST00000285397.5|-|12|1348|c.1266A>T|c.(1264-1266)taA>taT|p.*422Y|0.33915211970074816|AGACAGATAGTTAGTTAGTCA|AK9_ENST00000368948.2_INTRON/AK9_ENST00000424296.2_INTRON/AK9_ENST00000341338.6_INTRON|||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||false|false||false|false|||false|false|false||false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|||false|false||false||false||false|false|false||false|||false||]
 chr6	117249986	indel.92725	C	CA	.	PASS	FUNCOTATION=[RFX6|hg19|chr6|117249986|117249987|FRAME_SHIFT_INS||INS|-|-|A|g.chr6:117249986_117249987insA|ENST00000332958.2|+|18|2479|c.2463_2464insA|c.(2464-2466)gttfs|p.V822fs|0.3925|GAATCAGCACGTTTCTGTCA||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||false|false||false|false|||false|false|false||false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|||false|false||false||false||false|false|false||false|||false||]
@@ -1657,7 +1657,7 @@ chr7	93551452	exm634970	G	C	.	PASS	FUNCOTATION=[GNG11|hg19|chr7|93551452|9355145
 chr7	99264234	indel.96884	T	TA	.	PASS	FUNCOTATION=[CYP3A5|hg19|chr7|99264234|99264235|FRAME_SHIFT_INS||INS|-|-|A|g.chr7:99264234_99264235insA|ENST00000222982.4|-|6|611|c.510_511insT|c.(511-513)accfs|p.T171fs|0.5025|CTTTCAAGGTGACAGGCTTG|CYP3A5_ENST00000343703.5_FRAME_SHIFT_INS_p.T161fs/CYP3A5_ENST00000339843.2_THREE_PRIME_UTR|||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||false|false||false|false|||false|false|false||false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|||false|false||false||false||false|false|false||false|||false||]
 chr7	99514391	indel.96936	A	AC	.	PASS	FUNCOTATION=[TRIM4|hg19|chr7|99514391|99514392|FRAME_SHIFT_INS||INS|-|-|C|g.chr7:99514391_99514392insC|ENST00000355947.2|-|2|535|c.404_405insG|c.(403-405)tttfs|p.F135fs|0.4375|GTGGATGTCAAAGTTACCTG|TRIM4_ENST00000349062.2_INTRON/TRIM4_ENST00000354241.5_INTRON|||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||false|false||false|false|||false|false|false||false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|||false|false||false||false||false|false|false||false|||false||]
 chr7	99527243	exm2158709	T	C	.	PASS	FUNCOTATION=[GJC3|hg19|chr7|99527243|99527243|START_CODON_SNP||SNP|T|T|C|g.chr7:99527243T>C|ENST00000312891.2|-|1|1|c.1A>G|c.(1-3)Atg>Gtg|p.M1V|0.5336658354114713|CTGCCACACATCCTGTTTTGG|RP4-604G5.1_ENST00000456499.1_RNA|||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||false|false||false|false|||false|false|false||false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|||false|false||false||false||false|false|false||false|||false||]
-chr7	99757553	exm639976	A	G	.	PASS	FUNCOTATION=[GAL3ST4|hg19|chr7|99757553|99757553|NONSTOP||SNP|A|A|G|g.chr7:99757553A>G|ENST00000360039.4|-|4|1852|c.1459T>C|c.(1459-1461)Taa>Caa|p.*487Q|0.5486284289276808|TCTGATGTTTATGGGGAGAGT|GAL3ST4_ENST00000413800.1_NONSTOP_p.*487Q/GAL3ST4_ENST00000423751.1_THREE_PRIME_UTR/GAL3ST4_ENST00000411994.1_THREE_PRIME_UTR/GAL3ST4_ENST00000426974.2_NONSTOP_p.*425Q|||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||false|false||false|false|||false|false|false||false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|||false|false||false||false||false|false|false||false|||false||]
+chr7	99757553	exm639976	A	G	.	PASS	FUNCOTATION=[GAL3ST4|hg19|chr7|99757553|99757553|NONSTOP||SNP|A|A|G|g.chr7:99757553A>G|ENST00000360039.4|-|4|1852|c.1459T>C|c.(1459-1461)Taa>Caa|p.*487Q|0.5486284289276808|TCTGATGTTTATGGGGAGAGT|GAL3ST4_ENST00000413800.1_NONSTOP_p.*487Q/GAL3ST4_ENST00000423751.1_THREE_PRIME_UTR/GAL3ST4_ENST00000411994.1_THREE_PRIME_UTR/GAL3ST4_ENST00000426974.2_NONSTOP_p.*425Q/C7orf43_ENST00000316937.3_FIVE_PRIME_FLANK/C7orf43_ENST00000394035.2_FIVE_PRIME_FLANK/C7orf43_ENST00000419841.1_FIVE_PRIME_FLANK/C7orf43_ENST00000457641.1_FIVE_PRIME_FLANK/C7orf43_ENST00000498638.1_FIVE_PRIME_FLANK/MIR4658_ENST00000584344.1_FIVE_PRIME_FLANK|||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||false|false||false|false|||false|false|false||false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|||false|false||false||false||false|false|false||false|||false||]
 chr7	100486464	exm643029	T	G	.	PASS	FUNCOTATION=[UFSP1|hg19|chr7|100486464|100486464|NONSTOP||SNP|T|T|G|g.chr7:100486464T>G|ENST00000388761.2|-|1|876|c.429A>C|c.(427-429)tgA>tgC|p.*143C|0.5411471321695761|AACTTCGTCCTCAGTCCAAGG||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||false|false||false|false|||false|false|false||false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|||false|false||false||false||false|false|false||false|||false||]
 chr7	102524676	indel.97387	C	CA	.	PASS	FUNCOTATION=[FBXL13|hg19|chr7|102524676|102524677|FRAME_SHIFT_INS||INS|-|-|A|g.chr7:102524676_102524677insA|ENST00000313221.4|-|12|1519|c.1091_1092insT|c.(1090-1092)acgfs|p.D365fs|0.32|ACAGTTGTCCGTCAGAGTTG|FBXL13_ENST00000436908.1_FRAME_SHIFT_INS_p.D365fs/FBXL13_ENST00000393772.2_FRAME_SHIFT_INS_p.D365fs/FBXL13_ENST00000379308.3_FRAME_SHIFT_INS_p.D365fs/FBXL13_ENST00000379305.3_FRAME_SHIFT_INS_p.D365fs/FBXL13_ENST00000455112.2_FRAME_SHIFT_INS_p.D365fs/FBXL13_ENST00000379306.3_INTRON/FBXL13_ENST00000456695.1_INTRON|||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||false|false||false|false|||false|false|false||false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|||false|false||false||false||false|false|false||false|||false||]
 chr7	112424910	variant.97734	G	A	.	PASS	FUNCOTATION=[TMEM168|hg19|chr7|112424910|112424910|DE_NOVO_START_OUT_FRAME||SNP|G|G|A|g.chr7:112424910G>A|ENST00000312814.6|-|2|||||0.3167082294264339|TTTCCCTCACGTTACAAAAAT|TMEM168_ENST00000454074.1_DE_NOVO_START_OUT_FRAME|||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||false|false||false|false|||false|false|false||false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|||false|false||false||false||false|false|false||false|||false||]
@@ -1684,7 +1684,7 @@ chr8	82713734	exm2176858	A	G	.	PASS	FUNCOTATION=[SNX16|hg19|chr8|82713734|827137
 chr8	86057746	exm707986	A	G	.	PASS	FUNCOTATION=[LRRCC1|hg19|chr8|86057746|86057746|NONSTOP||SNP|A|A|G|g.chr8:86057746A>G|ENST00000360375.3|+|19|3248|c.3099A>G|c.(3097-3099)tgA>tgG|p.*1033W|0.2518703241895262|AAGATATGTGATGGTTCTGAG|LRRCC1_ENST00000414626.2_NONSTOP_p.*1013W|||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||false|false||false|false|||false|false|false||false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|||false|false||false||false||false|false|false||false|||false||]
 chr8	104061183	indel.101975	G	GTT	.	PASS	FUNCOTATION=[ATP6V1C1|hg19|chr8|104061183|104061184|SPLICE_SITE|FRAME_SHIFT_INS|INS|-|-|TT|g.chr8:104061183_104061184insTT|ENST00000395862.3|+|4|445|c.286_287insTT|c.(286-288)gtgfs|p.D97fs|0.3175|GCTAATGGAGGTAAGCTAAT|ATP6V1C1_ENST00000518738.1_SPLICE_SITE_p.D97fs/ATP6V1C1_ENST00000518857.1_SPLICE_SITE_p.D22fs/ATP6V1C1_ENST00000521514.1_SPLICE_SITE_p.D22fs|||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||false|false||false|false|||false|false|false||false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|||false|false||false||false||false|false|false||false|||false||]
 chr8	104433259	indel.102006	A	AT	.	PASS	FUNCOTATION=[DCAF13|hg19|chr8|104433259|104433260|FRAME_SHIFT_INS||INS|-|-|T|g.chr8:104433259_104433260insT|ENST00000297579.5|+|3|1060|c.783_784insT|c.(784-786)ggcfs|p.G262fs|0.33|AGCACATGAAGGCTTTGTAC|DCAF13_ENST00000519682.1_FRAME_SHIFT_INS_p.G106fs/DCAF13_ENST00000521971.1_INTRON/DCAF13_ENST00000521999.1_INTRON|||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||false|false||false|false|||false|false|false||false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|||false|false||false||false||false|false|false||false|||false||]
-chr8	124359584	exm718993	G	A	.	PASS	FUNCOTATION=[ATAD2|hg19|chr8|124359584|124359584|DE_NOVO_START_OUT_FRAME||SNP|G|G|A|g.chr8:124359584G>A|ENST00000521903.1|-|17|||||0.40648379052369077|TGTGGGTAGCGTCGTCGTAAA|ATAD2_ENST00000287394.5_MISSENSE_p.R654C|||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||false|false||false|false|||false|false|false||false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|||false|false||false||false||false|false|false||false|||false||]
+chr8	124359584	exm718993	G	A	.	PASS	FUNCOTATION=[ATAD2|hg19|chr8|124359584|124359584|DE_NOVO_START_OUT_FRAME||SNP|G|G|A|g.chr8:124359584G>A|ENST00000521903.1|-|17|||||0.40648379052369077|TGTGGGTAGCGTCGTCGTAAA|ATAD2_ENST00000287394.5_MISSENSE_p.R654C/MIR548AA1_ENST00000384971.2_FIVE_PRIME_FLANK|||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||false|false||false|false|||false|false|false||false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|||false|false||false||false||false|false|false||false|||false||]
 chr8	140943503	rs2233230	C	T	.	PASS	FUNCOTATION=[C8orf17|hg19|chr8|140943503|140943503|DE_NOVO_START_OUT_FRAME||SNP|C|C|T|g.chr8:140943503C>T|ENST00000507535.3|+|1|||||0.4937655860349127|CGAGCATACACGTAATCCTCA|TRAPPC9_ENST00000389328.4_INTRON/TRAPPC9_ENST00000438773.2_INTRON/TRAPPC9_ENST00000389327.3_INTRON|||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||false|false||false|false|||false|false|false||false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|||false|false||false||false||false|false|false||false|||false||]
 chr8	143761931	exm-rs2294008	C	T	.	PASS	FUNCOTATION=[PSCA|hg19|chr8|143761931|143761931|DE_NOVO_START_IN_FRAME||SNP|C|C|T|g.chr8:143761931C>T|ENST00000301258.4|+|1|||||0.6483790523690773|CCAGTGACCACGAAGGCTGTG|PSCA_ENST00000513264.1_DE_NOVO_START_IN_FRAME/PSCA_ENST00000505305.1_INTRON|||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||false|false||false|false|||false|false|false||false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|||false|false||false||false||false|false|false||false|||false||]
 chr8	144413416	rs2450772	G	A	.	PASS	FUNCOTATION=[TOP1MT|hg19|chr8|144413416|144413416|DE_NOVO_START_OUT_FRAME||SNP|G|G|A|g.chr8:144413416G>A|ENST00000523676.1|-|3|||||0.6334164588528678|AACGCACTCCGTCGGGAAGGG|TOP1MT_ENST00000521193.1_DE_NOVO_START_OUT_FRAME/TOP1MT_ENST00000329245.4_SILENT_p.D72D/TOP1MT_ENST00000519148.1_DE_NOVO_START_OUT_FRAME|||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||false|false||false|false|||false|false|false||false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|||false|false||false||false||false|false|false||false|||false||]
@@ -1695,15 +1695,15 @@ chr9	131221884	exm785426	C	T	.	PASS	FUNCOTATION=[ODF2|hg19|chr9|131221884|131221
 chr9	133327612	exm788586	C	T	.	PASS	FUNCOTATION=[ASS1|hg19|chr9|133327612|133327612|DE_NOVO_START_OUT_FRAME||SNP|C|C|T|g.chr9:133327612C>T|ENST00000372394.1|+|3|||||0.6234413965087282|TCCCGCCAGACGCTATGTCCA|ASS1_ENST00000352480.5_DE_NOVO_START_OUT_FRAME/ASS1_ENST00000372393.3_DE_NOVO_START_OUT_FRAME|||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||false|false||false|false|||false|false|false||false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|||false|false||false||false||false|false|false||false|||false||]
 chr9	139371562	exm798457	G	A	.	PASS	FUNCOTATION=[SEC16A|hg19|chr9|139371562|139371562|DE_NOVO_START_IN_FRAME||SNP|G|G|A|g.chr9:139371562G>A|ENST00000371706.3|-|1|||||0.6084788029925187|CCCATGAGACGTTTCAGGATC|SEC16A_ENST00000313050.7_MISSENSE_p.T169M/SEC16A_ENST00000290037.6_FIVE_PRIME_FLANK/SEC16A_ENST00000431893.2_FIVE_PRIME_FLANK|||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||false|false||false|false|||false|false|false||false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|||false|false||false||false||false|false|false||false|||false||]
 chrX	148582542	exm1661263	A	C	.	PASS	FUNCOTATION=[IDS|hg19|chrX|148582542|148582542|DE_NOVO_START_OUT_FRAME||SNP|A|A|C|g.chrX:148582542A>C|ENST00000422081.2|-|4|||||0.3940149625935162|CTATACGGAGAATCATCGGTA|IDS_ENST00000340855.6_MISSENSE_p.S149A/IDS_ENST00000370441.4_MISSENSE_p.S149A/IDS_ENST00000541269.1_DE_NOVO_START_OUT_FRAME/IDS_ENST00000370443.4_MISSENSE_p.S149A/IDS_ENST00000490775.1_INTRON|||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||false|false||false|false|||false|false|false||false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|||false|false||false||false||false|false|false||false|||false||]
-chrM	72	2010-08-MT-841	T	C	.	PASS	FUNCOTATION=[MT-ND1|hg19|chrM|72|72|FIVE_PRIME_FLANK||SNP|T|T|C|g.chrM:72T>C|ENST00000361390.2|+||||||0.4375|GTCTGGGGGGTATGCACGCGA|MT-RNR2_ENST00000387347.2_FIVE_PRIME_FLANK|||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||false|false||false|false|||false|false|false||false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|||false|false||false||false||false|false|false||false|||false||]
-chrM	125	200610-102	T	C	.	PASS	FUNCOTATION=[MT-ND1|hg19|chrM|125|125|FIVE_PRIME_FLANK||SNP|T|T|C|g.chrM:125T>C|ENST00000361390.2|+||||||0.4523076923076923|TATGTCGCAGTATCTGTCTTT|MT-RNR2_ENST00000387347.2_FIVE_PRIME_FLANK|||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||false|false||false|false|||false|false|false||false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|||false|false||false||false||false|false|false||false|||false||]
-chrM	212	200610-104	T	C	.	PASS	FUNCOTATION=[MT-ND1|hg19|chrM|212|212|FIVE_PRIME_FLANK||SNP|T|T|C|g.chrM:212T>C|ENST00000361390.2|+||||||0.4389027431421446|AGTGTGTTAATTAATTAATGC|MT-RNR2_ENST00000387347.2_FIVE_PRIME_FLANK|||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||false|false||false|false|||false|false|false||false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|||false|false||false||false||false|false|false||false|||false||]
-chrM	217	exm-rs41531144	T	C	.	PASS	FUNCOTATION=[MT-ND1|hg19|chrM|217|217|FIVE_PRIME_FLANK||SNP|T|T|C|g.chrM:217T>C|ENST00000361390.2|+||||||0.44139650872817954|GTTAATTAATTAATGCTTGTA|MT-RNR2_ENST00000387347.2_FIVE_PRIME_FLANK|||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||false|false||false|false|||false|false|false||false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|||false|false||false||false||false|false|false||false|||false||]
-chrM	228	exm-rs41323649	G	A	.	PASS	FUNCOTATION=[MT-ND1|hg19|chrM|228|228|FIVE_PRIME_FLANK||SNP|G|G|A|g.chrM:228G>A|ENST00000361390.2|+||||||0.43640897755610975|AATGCTTGTAGGACATAATAA|MT-RNR2_ENST00000387347.2_FIVE_PRIME_FLANK|||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||false|false||false|false|||false|false|false||false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|||false|false||false||false||false|false|false||false|||false||]
-chrM	236	200610-105	T	C	.	PASS	FUNCOTATION=[MT-ND1|hg19|chrM|236|236|FIVE_PRIME_FLANK||SNP|T|T|C|g.chrM:236T>C|ENST00000361390.2|+||||||0.4389027431421446|TAGGACATAATAATAACAATT|MT-RNR2_ENST00000387347.2_FIVE_PRIME_FLANK|||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||false|false||false|false|||false|false|false||false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|||false|false||false||false||false|false|false||false|||false||]
-chrM	246	200610-106	T	C	.	PASS	FUNCOTATION=[MT-ND1|hg19|chrM|246|246|FIVE_PRIME_FLANK||SNP|T|T|C|g.chrM:246T>C|ENST00000361390.2|+||||||0.4339152119700748|TAATAACAATTGAATGTCTGC|MT-RNR2_ENST00000387347.2_FIVE_PRIME_FLANK|||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||false|false||false|false|||false|false|false||false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|||false|false||false||false||false|false|false||false|||false||]
-chrM	295	exm-rs41528348	C	T	.	PASS	FUNCOTATION=[MT-ND1|hg19|chrM|295|295|FIVE_PRIME_FLANK||SNP|C|C|T|g.chrM:295C>T|ENST00000361390.2|+||||||0.42144638403990026|CAAAAAATTTCCACCAAACCC|MT-RNR2_ENST00000387347.2_FIVE_PRIME_FLANK|||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||false|false||false|false|||false|false|false||false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|||false|false||false||false||false|false|false||false|||false||]
-chrM	489	exm-rs28625645	T	C	.	PASS	FUNCOTATION=[MT-ND1|hg19|chrM|489|489|FIVE_PRIME_FLANK||SNP|T|T|C|g.chrM:489T>C|ENST00000361390.2|+||||||0.46633416458852867|ATCTCATCAATACAACCCCCG|MT-RNR2_ENST00000387347.2_FIVE_PRIME_FLANK|||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||false|false||false|false|||false|false|false||false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|||false|false||false||false||false|false|false||false|||false||]
-chrM	499	exm-rs3901846	G	A	.	PASS	FUNCOTATION=[MT-ND1|hg19|chrM|499|499|FIVE_PRIME_FLANK||SNP|G|G|A|g.chrM:499G>A|ENST00000361390.2|+||||||0.4688279301745636|TACAACCCCCGCCCATCCTAC|MT-RNR2_ENST00000387347.2_FIVE_PRIME_FLANK|||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||false|false||false|false|||false|false|false||false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|||false|false||false||false||false|false|false||false|||false||]
-chrM	1719	exm-rs3928305	G	A	.	PASS	FUNCOTATION=[MT-ND1|hg19|chrM|1719|1719|FIVE_PRIME_FLANK||SNP|G|G|A|g.chrM:1719G>A|ENST00000361390.2|+||||||0.4114713216957606|GACAACCTTAGCCAAACCATT|MT-RNR2_ENST00000387347.2_RNA|||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||false|false||false|false|||false|false|false||false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|||false|false||false||false||false|false|false||false|||false||]
-chrM	3316	exm-rs2853516	G	A	.	PASS	FUNCOTATION=[MT-ND1|hg19|chrM|3316|3316|MISSENSE||SNP|G|G|A|g.chrM:3316G>A|ENST00000361390.2|+|1|10|c.10G>A|c.(10-12)Gcc>Acc|p.A4T|0.4613466334164589|CATACCCATGGCCAACCTCCT||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||false|false||false|false|||false|false|false||false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|||false|false||false||false||false|false|false||false|||false||]
+chrM	72	2010-08-MT-841	T	C	.	PASS	FUNCOTATION=[MT-ND1|hg19|chrM|72|72|FIVE_PRIME_FLANK||SNP|T|T|C|g.chrM:72T>C|ENST00000361390.2|+||||||0.4375|GTCTGGGGGGTATGCACGCGA|MT-ND2_ENST00000361453.3_FIVE_PRIME_FLANK/MT-TL1_ENST00000386347.1_FIVE_PRIME_FLANK/MT-TF_ENST00000387314.1_FIVE_PRIME_FLANK/MT-TV_ENST00000387342.1_FIVE_PRIME_FLANK/MT-RNR2_ENST00000387347.2_FIVE_PRIME_FLANK/MT-TI_ENST00000387365.1_FIVE_PRIME_FLANK/MT-TM_ENST00000387377.1_FIVE_PRIME_FLANK/MT-RNR1_ENST00000389680.2_FIVE_PRIME_FLANK|||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||false|false||false|false|||false|false|false||false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|||false|false||false||false||false|false|false||false|||false||]
+chrM	125	200610-102	T	C	.	PASS	FUNCOTATION=[MT-ND1|hg19|chrM|125|125|FIVE_PRIME_FLANK||SNP|T|T|C|g.chrM:125T>C|ENST00000361390.2|+||||||0.4523076923076923|TATGTCGCAGTATCTGTCTTT|MT-ND2_ENST00000361453.3_FIVE_PRIME_FLANK/MT-TL1_ENST00000386347.1_FIVE_PRIME_FLANK/MT-TF_ENST00000387314.1_FIVE_PRIME_FLANK/MT-TV_ENST00000387342.1_FIVE_PRIME_FLANK/MT-RNR2_ENST00000387347.2_FIVE_PRIME_FLANK/MT-TI_ENST00000387365.1_FIVE_PRIME_FLANK/MT-TM_ENST00000387377.1_FIVE_PRIME_FLANK/MT-RNR1_ENST00000389680.2_FIVE_PRIME_FLANK|||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||false|false||false|false|||false|false|false||false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|||false|false||false||false||false|false|false||false|||false||]
+chrM	212	200610-104	T	C	.	PASS	FUNCOTATION=[MT-ND1|hg19|chrM|212|212|FIVE_PRIME_FLANK||SNP|T|T|C|g.chrM:212T>C|ENST00000361390.2|+||||||0.4389027431421446|AGTGTGTTAATTAATTAATGC|MT-ND2_ENST00000361453.3_FIVE_PRIME_FLANK/MT-TL1_ENST00000386347.1_FIVE_PRIME_FLANK/MT-TF_ENST00000387314.1_FIVE_PRIME_FLANK/MT-TV_ENST00000387342.1_FIVE_PRIME_FLANK/MT-RNR2_ENST00000387347.2_FIVE_PRIME_FLANK/MT-TI_ENST00000387365.1_FIVE_PRIME_FLANK/MT-TM_ENST00000387377.1_FIVE_PRIME_FLANK/MT-RNR1_ENST00000389680.2_FIVE_PRIME_FLANK|||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||false|false||false|false|||false|false|false||false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|||false|false||false||false||false|false|false||false|||false||]
+chrM	217	exm-rs41531144	T	C	.	PASS	FUNCOTATION=[MT-ND1|hg19|chrM|217|217|FIVE_PRIME_FLANK||SNP|T|T|C|g.chrM:217T>C|ENST00000361390.2|+||||||0.44139650872817954|GTTAATTAATTAATGCTTGTA|MT-ND2_ENST00000361453.3_FIVE_PRIME_FLANK/MT-TL1_ENST00000386347.1_FIVE_PRIME_FLANK/MT-TF_ENST00000387314.1_FIVE_PRIME_FLANK/MT-TV_ENST00000387342.1_FIVE_PRIME_FLANK/MT-RNR2_ENST00000387347.2_FIVE_PRIME_FLANK/MT-TI_ENST00000387365.1_FIVE_PRIME_FLANK/MT-TM_ENST00000387377.1_FIVE_PRIME_FLANK/MT-RNR1_ENST00000389680.2_FIVE_PRIME_FLANK|||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||false|false||false|false|||false|false|false||false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|||false|false||false||false||false|false|false||false|||false||]
+chrM	228	exm-rs41323649	G	A	.	PASS	FUNCOTATION=[MT-ND1|hg19|chrM|228|228|FIVE_PRIME_FLANK||SNP|G|G|A|g.chrM:228G>A|ENST00000361390.2|+||||||0.43640897755610975|AATGCTTGTAGGACATAATAA|MT-ND2_ENST00000361453.3_FIVE_PRIME_FLANK/MT-TL1_ENST00000386347.1_FIVE_PRIME_FLANK/MT-TF_ENST00000387314.1_FIVE_PRIME_FLANK/MT-TV_ENST00000387342.1_FIVE_PRIME_FLANK/MT-RNR2_ENST00000387347.2_FIVE_PRIME_FLANK/MT-TI_ENST00000387365.1_FIVE_PRIME_FLANK/MT-TM_ENST00000387377.1_FIVE_PRIME_FLANK/MT-RNR1_ENST00000389680.2_FIVE_PRIME_FLANK|||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||false|false||false|false|||false|false|false||false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|||false|false||false||false||false|false|false||false|||false||]
+chrM	236	200610-105	T	C	.	PASS	FUNCOTATION=[MT-ND1|hg19|chrM|236|236|FIVE_PRIME_FLANK||SNP|T|T|C|g.chrM:236T>C|ENST00000361390.2|+||||||0.4389027431421446|TAGGACATAATAATAACAATT|MT-ND2_ENST00000361453.3_FIVE_PRIME_FLANK/MT-TL1_ENST00000386347.1_FIVE_PRIME_FLANK/MT-TF_ENST00000387314.1_FIVE_PRIME_FLANK/MT-TV_ENST00000387342.1_FIVE_PRIME_FLANK/MT-RNR2_ENST00000387347.2_FIVE_PRIME_FLANK/MT-TI_ENST00000387365.1_FIVE_PRIME_FLANK/MT-TM_ENST00000387377.1_FIVE_PRIME_FLANK/MT-RNR1_ENST00000389680.2_FIVE_PRIME_FLANK|||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||false|false||false|false|||false|false|false||false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|||false|false||false||false||false|false|false||false|||false||]
+chrM	246	200610-106	T	C	.	PASS	FUNCOTATION=[MT-ND1|hg19|chrM|246|246|FIVE_PRIME_FLANK||SNP|T|T|C|g.chrM:246T>C|ENST00000361390.2|+||||||0.4339152119700748|TAATAACAATTGAATGTCTGC|MT-ND2_ENST00000361453.3_FIVE_PRIME_FLANK/MT-TL1_ENST00000386347.1_FIVE_PRIME_FLANK/MT-TF_ENST00000387314.1_FIVE_PRIME_FLANK/MT-TV_ENST00000387342.1_FIVE_PRIME_FLANK/MT-RNR2_ENST00000387347.2_FIVE_PRIME_FLANK/MT-TI_ENST00000387365.1_FIVE_PRIME_FLANK/MT-TM_ENST00000387377.1_FIVE_PRIME_FLANK/MT-RNR1_ENST00000389680.2_FIVE_PRIME_FLANK|||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||false|false||false|false|||false|false|false||false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|||false|false||false||false||false|false|false||false|||false||]
+chrM	295	exm-rs41528348	C	T	.	PASS	FUNCOTATION=[MT-ND1|hg19|chrM|295|295|FIVE_PRIME_FLANK||SNP|C|C|T|g.chrM:295C>T|ENST00000361390.2|+||||||0.42144638403990026|CAAAAAATTTCCACCAAACCC|MT-ND2_ENST00000361453.3_FIVE_PRIME_FLANK/MT-TL1_ENST00000386347.1_FIVE_PRIME_FLANK/MT-TF_ENST00000387314.1_FIVE_PRIME_FLANK/MT-TV_ENST00000387342.1_FIVE_PRIME_FLANK/MT-RNR2_ENST00000387347.2_FIVE_PRIME_FLANK/MT-TI_ENST00000387365.1_FIVE_PRIME_FLANK/MT-TM_ENST00000387377.1_FIVE_PRIME_FLANK/MT-RNR1_ENST00000389680.2_FIVE_PRIME_FLANK|||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||false|false||false|false|||false|false|false||false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|||false|false||false||false||false|false|false||false|||false||]
+chrM	489	exm-rs28625645	T	C	.	PASS	FUNCOTATION=[MT-ND1|hg19|chrM|489|489|FIVE_PRIME_FLANK||SNP|T|T|C|g.chrM:489T>C|ENST00000361390.2|+||||||0.46633416458852867|ATCTCATCAATACAACCCCCG|MT-ND2_ENST00000361453.3_FIVE_PRIME_FLANK/MT-TL1_ENST00000386347.1_FIVE_PRIME_FLANK/MT-TF_ENST00000387314.1_FIVE_PRIME_FLANK/MT-TV_ENST00000387342.1_FIVE_PRIME_FLANK/MT-RNR2_ENST00000387347.2_FIVE_PRIME_FLANK/MT-TI_ENST00000387365.1_FIVE_PRIME_FLANK/MT-TM_ENST00000387377.1_FIVE_PRIME_FLANK/MT-RNR1_ENST00000389680.2_FIVE_PRIME_FLANK|||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||false|false||false|false|||false|false|false||false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|||false|false||false||false||false|false|false||false|||false||]
+chrM	499	exm-rs3901846	G	A	.	PASS	FUNCOTATION=[MT-ND1|hg19|chrM|499|499|FIVE_PRIME_FLANK||SNP|G|G|A|g.chrM:499G>A|ENST00000361390.2|+||||||0.4688279301745636|TACAACCCCCGCCCATCCTAC|MT-ND2_ENST00000361453.3_FIVE_PRIME_FLANK/MT-TL1_ENST00000386347.1_FIVE_PRIME_FLANK/MT-TF_ENST00000387314.1_FIVE_PRIME_FLANK/MT-TV_ENST00000387342.1_FIVE_PRIME_FLANK/MT-RNR2_ENST00000387347.2_FIVE_PRIME_FLANK/MT-TI_ENST00000387365.1_FIVE_PRIME_FLANK/MT-TM_ENST00000387377.1_FIVE_PRIME_FLANK/MT-RNR1_ENST00000389680.2_FIVE_PRIME_FLANK|||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||false|false||false|false|||false|false|false||false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|||false|false||false||false||false|false|false||false|||false||]
+chrM	1719	exm-rs3928305	G	A	.	PASS	FUNCOTATION=[MT-ND1|hg19|chrM|1719|1719|FIVE_PRIME_FLANK||SNP|G|G|A|g.chrM:1719G>A|ENST00000361390.2|+||||||0.4114713216957606|GACAACCTTAGCCAAACCATT|MT-ND2_ENST00000361453.3_FIVE_PRIME_FLANK/MT-CO1_ENST00000361624.2_FIVE_PRIME_FLANK/MT-RNR2_ENST00000387347.2_RNA/MT-TL1_ENST00000386347.1_FIVE_PRIME_FLANK/MT-TI_ENST00000387365.1_FIVE_PRIME_FLANK/MT-TM_ENST00000387377.1_FIVE_PRIME_FLANK/MT-TW_ENST00000387382.1_FIVE_PRIME_FLANK|||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||false|false||false|false|||false|false|false||false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|||false|false||false||false||false|false|false||false|||false||]
+chrM	3316	exm-rs2853516	G	A	.	PASS	FUNCOTATION=[MT-ND1|hg19|chrM|3316|3316|MISSENSE||SNP|G|G|A|g.chrM:3316G>A|ENST00000361390.2|+|1|10|c.10G>A|c.(10-12)Gcc>Acc|p.A4T|0.4613466334164589|CATACCCATGGCCAACCTCCT|MT-ND2_ENST00000361453.3_FIVE_PRIME_FLANK/MT-CO1_ENST00000361624.2_FIVE_PRIME_FLANK/MT-CO2_ENST00000361739.1_FIVE_PRIME_FLANK/MT-TI_ENST00000387365.1_FIVE_PRIME_FLANK/MT-TM_ENST00000387377.1_FIVE_PRIME_FLANK/MT-TW_ENST00000387382.1_FIVE_PRIME_FLANK/MT-TD_ENST00000387419.1_FIVE_PRIME_FLANK/MT-TK_ENST00000387421.1_FIVE_PRIME_FLANK|||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||false|false||false|false|||false|false|false||false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|||false|false||false||false||false|false|false||false|||false||]
diff --git a/src/test/resources/org/broadinstitute/hellbender/tools/funcotator/validationTestData/regressionTestVariantSet1_expected.maf b/src/test/resources/org/broadinstitute/hellbender/tools/funcotator/validationTestData/regressionTestVariantSet1_expected.maf
index 8e40595fd62..edf6583e5ab 100644
--- a/src/test/resources/org/broadinstitute/hellbender/tools/funcotator/validationTestData/regressionTestVariantSet1_expected.maf
+++ b/src/test/resources/org/broadinstitute/hellbender/tools/funcotator/validationTestData/regressionTestVariantSet1_expected.maf
@@ -88,16 +88,16 @@
 ## contig=<ID=GL000225.1,length=211173,assembly=b37>
 ## contig=<ID=GL000192.1,length=547496,assembly=b37>
 ## contig=<ID=NC_007605,length=171823,assembly=b37>
-## GATKCommandLine=<ID=Funcotator,CommandLine="Funcotator  --output /var/folders/kn/f9s03hnn0xgby73plpc89lz0_ns740/T/regressionTestVariantSet1.vcf.funcotator7666088979652323015.maf --ref-version hg19 --data-sources-path /Users/droazen/src/hellbender/src/test/resources/large/funcotator/funcotator_dataSources/ --output-file-format MAF --variant /Users/droazen/src/hellbender/src/test/resources/org/broadinstitute/hellbender/tools/funcotator/validationTestData/regressionTestVariantSet1.vcf --reference /Users/droazen/src/hellbender/src/test/resources/large/Homo_sapiens_assembly19.fasta.gz --verbosity INFO  --remove-filtered-variants false --transcript-selection-mode CANONICAL --five-prime-flank-size 5000 --three-prime-flank-size 0 --lookahead-cache-bp 100000 --force-b37-to-hg19-reference-contig-conversion false --interval-set-rule UNION --interval-padding 0 --interval-exclusion-padding 0 --interval-merging-rule ALL --read-validation-stringency SILENT --seconds-between-progress-updates 10.0 --disable-sequence-dictionary-validation false --create-output-bam-index true --create-output-bam-md5 false --create-output-variant-index true --create-output-variant-md5 false --lenient false --add-output-sam-program-record true --add-output-vcf-command-line true --cloud-prefetch-buffer 40 --cloud-index-prefetch-buffer -1 --disable-bam-index-caching false --sites-only-vcf-output false --help false --version false --showHidden false --QUIET false --use-jdk-deflater false --use-jdk-inflater false --gcs-max-retries 20 --gcs-project-for-requester-pays  --disable-tool-default-read-filters false",Version=Unavailable-0.0.5,Date="November 15, 2018 1:44:32 PM EST">
 ## source=Funcotator
-##  Funcotator 0.0.5 | Date 20184415T014432 | Gencode 19 CANONICAL | Achilles 110303 | CGC full_2012_03-15 | ClinVar 12.03.20 | Cosmic 83 | CosmicFusion v83 | CosmicTissue v83 | DNARepairGenes 20171217T214737  | Familial_Cancer_Genes 20110905 | Gencode_XHGNC 75_37 | Gencode_XRefSeq 75_37 | HGNC Nov302017 | Simple_Uniprot 2014_12 | dbSNP 9606_b150
+## GATKCommandLine=<ID=Funcotator,CommandLine="Funcotator  --output /var/folders/4p/2b7bzvcx0x7bxvbztmwk__6rkr9cxg/T/regressionTestVariantSet1.vcf.funcotator5484453338053965394.maf --ref-version hg19 --data-sources-path /Users/jonn/Development/gatk/src/test/resources/large/funcotator/funcotator_dataSources/ --output-file-format MAF --variant /Users/jonn/Development/gatk/src/test/resources/org/broadinstitute/hellbender/tools/funcotator/validationTestData/regressionTestVariantSet1.vcf --reference /Users/jonn/Development/gatk/src/test/resources/large/Homo_sapiens_assembly19.fasta.gz --verbosity INFO  --remove-filtered-variants false --transcript-selection-mode CANONICAL --five-prime-flank-size 5000 --three-prime-flank-size 0 --lookahead-cache-bp 100000 --force-b37-to-hg19-reference-contig-conversion false --interval-set-rule UNION --interval-padding 0 --interval-exclusion-padding 0 --interval-merging-rule ALL --read-validation-stringency SILENT --seconds-between-progress-updates 10.0 --disable-sequence-dictionary-validation false --create-output-bam-index true --create-output-bam-md5 false --create-output-variant-index true --create-output-variant-md5 false --lenient false --add-output-sam-program-record true --add-output-vcf-command-line true --cloud-prefetch-buffer 40 --cloud-index-prefetch-buffer -1 --disable-bam-index-caching false --sites-only-vcf-output false --help false --version false --showHidden false --QUIET false --use-jdk-deflater false --use-jdk-inflater false --gcs-max-retries 20 --gcs-project-for-requester-pays  --disable-tool-default-read-filters false",Version=Unavailable-0.0.5,Date="November 16, 2018 12:40:31 PM EST">
+##  Funcotator 0.0.5 | Date 20184016T124031 | Gencode 19 CANONICAL | Achilles 110303 | CGC full_2012_03-15 | ClinVar 12.03.20 | Cosmic 83 | CosmicFusion v83 | CosmicTissue v83 | DNARepairGenes 20171217T214737  | Familial_Cancer_Genes 20110905 | Gencode_XHGNC 75_37 | Gencode_XRefSeq 75_37 | HGNC Nov302017 | Simple_Uniprot 2014_12 | dbSNP 9606_b150
 Hugo_Symbol	Entrez_Gene_Id	Center	NCBI_Build	Chromosome	Start_Position	End_Position	Strand	Variant_Classification	Variant_Type	Reference_Allele	Tumor_Seq_Allele1	Tumor_Seq_Allele2	dbSNP_RS	dbSNP_Val_Status	Tumor_Sample_Barcode	Matched_Norm_Sample_Barcode	Match_Norm_Seq_Allele1	Match_Norm_Seq_Allele2	Tumor_Validation_Allele1	Tumor_Validation_Allele2	Match_Norm_Validation_Allele1	Match_Norm_Validation_Allele2	Verification_Status	Validation_Status	Mutation_Status	Sequencing_Phase	Sequence_Source	Validation_Method	Score	BAM_File	Sequencer	Tumor_Sample_UUID	Matched_Norm_Sample_UUID	Genome_Change	Annotation_Transcript	Transcript_Strand	Transcript_Exon	Transcript_Position	cDNA_Change	Codon_Change	Protein_Change	Other_Transcripts	Refseq_mRNA_Id	Refseq_prot_Id	SwissProt_acc_Id	SwissProt_entry_Id	Description	UniProt_AApos	UniProt_Region	UniProt_Site	UniProt_Natural_Variations	UniProt_Experimental_Info	GO_Biological_Process	GO_Cellular_Component	GO_Molecular_Function	COSMIC_overlapping_mutations	COSMIC_fusion_genes	COSMIC_tissue_types_affected	COSMIC_total_alterations_in_gene	Tumorscape_Amplification_Peaks	Tumorscape_Deletion_Peaks	TCGAscape_Amplification_Peaks	TCGAscape_Deletion_Peaks	DrugBank	ref_context	gc_content	CCLE_ONCOMAP_overlapping_mutations	CCLE_ONCOMAP_total_mutations_in_gene	CGC_Mutation_Type	CGC_Translocation_Partner	CGC_Tumor_Types_Somatic	CGC_Tumor_Types_Germline	CGC_Other_Diseases	DNARepairGenes_Activity_linked_to_OMIM	FamilialCancerDatabase_Syndromes	MUTSIG_Published_Results	OREGANNO_ID	OREGANNO_Values	tumor_f	t_alt_count	t_ref_count	n_alt_count	n_ref_count	Gencode_19_secondaryVariantClassification	Achilles_Top_Genes	CGC_Name	CGC_GeneID	CGC_Chr	CGC_Chr_Band	CGC_Cancer_Somatic_Mut	CGC_Cancer_Germline_Mut	CGC_Cancer_Syndrome	CGC_Tissue_Type	CGC_Cancer_Molecular_Genetics	CGC_Other_Germline_Mut	ClinVar_HGMD_ID	ClinVar_SYM	ClinVar_TYPE	ClinVar_ASSEMBLY	ClinVar_rs	CosmicFusion_fusion_id	DNARepairGenes_Chromosome_location_linked_to_NCBI_MapView	DNARepairGenes_Accession_number_linked_to_NCBI_Entrez	Familial_Cancer_Genes_Synonym	Familial_Cancer_Genes_Reference	Gencode_XHGNC_hgnc_id	HGNC_HGNC_ID	HGNC_Status	HGNC_Locus_Type	HGNC_Locus_Group	HGNC_Previous_Symbols	HGNC_Previous_Name	HGNC_Synonyms	HGNC_Name_Synonyms	HGNC_Chromosome	HGNC_Date_Modified	HGNC_Date_Symbol_Changed	HGNC_Date_Name_Changed	HGNC_Accession_Numbers	HGNC_Enzyme_IDs	HGNC_Ensembl_Gene_ID	HGNC_Pubmed_IDs	HGNC_RefSeq_IDs	HGNC_Gene_Family_ID	HGNC_Gene_Family_Name	HGNC_CCDS_IDs	HGNC_Vega_ID	HGNC_OMIM_ID(supplied_by_OMIM)	HGNC_RefSeq(supplied_by_NCBI)	HGNC_UniProt_ID(supplied_by_UniProt)	HGNC_Ensembl_ID(supplied_by_Ensembl)	HGNC_UCSC_ID(supplied_by_UCSC)	Simple_Uniprot_alt_uniprot_accessions	dbSNP_AC	dbSNP_AF	dbSNP_AN	dbSNP_ASP	dbSNP_ASS	dbSNP_CAF	dbSNP_CDA	dbSNP_CFL	dbSNP_COMMON	dbSNP_DP	dbSNP_DSS	dbSNP_G5	dbSNP_G5A	dbSNP_GENEINFO	dbSNP_GNO	dbSNP_HD	dbSNP_INT	dbSNP_KGPhase1	dbSNP_KGPhase3	dbSNP_LSD	dbSNP_MTP	dbSNP_MUT	dbSNP_NOC	dbSNP_NOV	dbSNP_NSF	dbSNP_NSM	dbSNP_NSN	dbSNP_OM	dbSNP_OTH	dbSNP_PM	dbSNP_PMC	dbSNP_R3	dbSNP_R5	dbSNP_REF	dbSNP_RV	dbSNP_S3D	dbSNP_SAO	dbSNP_SLO	dbSNP_SSR	dbSNP_SYN	dbSNP_TOPMED	dbSNP_TPA	dbSNP_U3	dbSNP_U5	dbSNP_VC	dbSNP_VP	dbSNP_WGT	dbSNP_WTD	dbSNP_dbSNPBuildID	dbSNP_ID	HGNC_Entrez_Gene_ID(supplied_by_NCBI)	dbSNP_RSPOS	dbSNP_VLD	
-RP11-206L10.10		__UNKNOWN__	hg19	1	752566	752566	+	RNA	SNP	G	G	A	3094315	byFrequency;by1000genomes	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	NA	NA	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	g.chr1:752566G>A	ENST00000435300.1	-			c.e1-187C>T									__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__								__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__		CAAGAGAAACGTTTGACAGAG	0.3690773067331671	__UNKNOWN__	__UNKNOWN__								__UNKNOWN__	__UNKNOWN__	__UNKNOWN__																																																											true	false	0.2817,0.7183	false	false	1		false	true	false	FAM87B:400728	true	true	false	true	true	false	false	false	false	false	false	false	false	false	false	true	true	false	true	false	true	false	0	true	0	false	0.351947,0.648053	false	false	false	SNV	0x05012802000515053f000101	1	false	103	rs3094315		752566	true	
-RP11-206L10.10		__UNKNOWN__	hg19	1	752721	752721	+	RNA	SNP	A	A	G	3131972	byFrequency;by1000genomes	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	NA	NA	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	g.chr1:752721A>G	ENST00000435300.1	-			c.e1-32T>C									__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__								__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__		AGAAAGGAAAAGGGAAGAATG	0.486284289276808	__UNKNOWN__	__UNKNOWN__								__UNKNOWN__	__UNKNOWN__	__UNKNOWN__																																																											true	false	0.3466,0.6534	false	false	1		false	true	true	FAM87B:400728	true	true	false	true	true	false	false	false	false	false	false	false	false	false	false	false	false	false	true	false	true	false	0	true	0	false	0.393296,0.606704	false	false	false	SNV	0x05010002000517053f000100	1	false	103	rs3131972		752721	true	
-LINC00115		__UNKNOWN__	hg19	1	762320	762320	+	RNA	SNP	C	C	T	75333668	byFrequency;by1000genomes	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	NA	NA	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	g.chr1:762320C>T	ENST00000473798.1	-			c.e1-582G>A									__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__								__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__		ACCCAACAGTCACCGCTAGTG	0.6084788029925187	__UNKNOWN__	__UNKNOWN__								__UNKNOWN__	__UNKNOWN__	__UNKNOWN__																																																											true	false	0.9305,0.06949	false	false	1		false	true	false	LINC01128:643837|LINC00115:79854	false	true	false	true	true	false	false	false	false	false	false	false	false	false	false	false	false	false	true	false	false	false	0	true	0	false		false	false	false	SNV	0x050100020005150436000100	1	false	131	rs75333668		762320	true	
+RP11-206L10.10		__UNKNOWN__	hg19	1	752566	752566	+	RNA	SNP	G	G	A	3094315	byFrequency;by1000genomes	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	NA	NA	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	g.chr1:752566G>A	ENST00000435300.1	-			c.e1-187C>T			FAM87B_ENST00000326734.1_5'Flank						__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__								__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__		CAAGAGAAACGTTTGACAGAG	0.3690773067331671	__UNKNOWN__	__UNKNOWN__								__UNKNOWN__	__UNKNOWN__	__UNKNOWN__																																																											true	false	0.2817,0.7183	false	false	1		false	true	false	FAM87B:400728	true	true	false	true	true	false	false	false	false	false	false	false	false	false	false	true	true	false	true	false	true	false	0	true	0	false	0.351947,0.648053	false	false	false	SNV	0x05012802000515053f000101	1	false	103	rs3094315		752566	true	
+RP11-206L10.10		__UNKNOWN__	hg19	1	752721	752721	+	RNA	SNP	A	A	G	3131972	byFrequency;by1000genomes	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	NA	NA	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	g.chr1:752721A>G	ENST00000435300.1	-			c.e1-32T>C			FAM87B_ENST00000326734.1_5'Flank						__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__								__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__		AGAAAGGAAAAGGGAAGAATG	0.486284289276808	__UNKNOWN__	__UNKNOWN__								__UNKNOWN__	__UNKNOWN__	__UNKNOWN__																																																											true	false	0.3466,0.6534	false	false	1		false	true	true	FAM87B:400728	true	true	false	true	true	false	false	false	false	false	false	false	false	false	false	false	false	false	true	false	true	false	0	true	0	false	0.393296,0.606704	false	false	false	SNV	0x05010002000517053f000100	1	false	103	rs3131972		752721	true	
+LINC00115		__UNKNOWN__	hg19	1	762320	762320	+	RNA	SNP	C	C	T	75333668	byFrequency;by1000genomes	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	NA	NA	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	g.chr1:762320C>T	ENST00000473798.1	-			c.e1-582G>A			RP11-206L10.11_ENST00000445118.2_5'Flank						__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__								__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__		ACCCAACAGTCACCGCTAGTG	0.6084788029925187	__UNKNOWN__	__UNKNOWN__								__UNKNOWN__	__UNKNOWN__	__UNKNOWN__																																																											true	false	0.9305,0.06949	false	false	1		false	true	false	LINC01128:643837|LINC00115:79854	false	true	false	true	true	false	false	false	false	false	false	false	false	false	false	false	false	false	true	false	false	false	0	true	0	false		false	false	false	SNV	0x050100020005150436000100	1	false	131	rs75333668		762320	true	
 Unknown		__UNKNOWN__	hg19	1	798959	798959	+	IGR	SNP	G	G	A			__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	NA	NA	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	g.chr1:798959G>A	no_transcript													__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__								__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__		TGGGCTTTAAGGTATGACTAG	0.4089775561097257	__UNKNOWN__	__UNKNOWN__								__UNKNOWN__	__UNKNOWN__	__UNKNOWN__																																																											false	false		false	false			false	false	false		false	false	false	false	false	false	false	false	false	false	false	false	false	false	false	false	false	false	false	false	false	false		false		false		false	false	false				false					false	
 RP11-54O7.16		__UNKNOWN__	hg19	1	838555	838555	+	5'Flank	SNP	C	C	A			__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	NA	NA	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	g.chr1:838555C>A	ENST00000607769.1	+												__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__								__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__		GACCCCATTTCACCTTAATCG	0.5511221945137157	__UNKNOWN__	__UNKNOWN__								__UNKNOWN__	__UNKNOWN__	__UNKNOWN__																																																											false	false		false	false			false	false	false		false	false	false	false	false	false	false	false	false	false	false	false	false	false	false	false	false	false	false	false	false	false		false		false		false	false	false				false					false	
-RP11-54O7.16		__UNKNOWN__	hg19	1	846808	846808	+	RNA	SNP	C	C	T	4475691	byFrequency;by1000genomes	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	NA	NA	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	g.chr1:846808C>T	ENST00000607769.1	+			c.e2-4322C>T									__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__								__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__		TGGTGAGCTGCGCCTTTGTGC	0.6059850374064838	__UNKNOWN__	__UNKNOWN__								__UNKNOWN__	__UNKNOWN__	__UNKNOWN__																																																											true	false	0.7452,0.2548	false	false	1		false	true	true	LOC284600:284600	true	true	false	true	true	false	false	false	false	false	false	false	false	false	false	false	false	false	true	false	false	false	0	true	0	false	0.725634,0.274366	false	false	false	SNV	0x05010002000517053e000100	1	false	111	rs4475691		846808	true	
+RP11-54O7.16		__UNKNOWN__	hg19	1	846808	846808	+	RNA	SNP	C	C	T	4475691	byFrequency;by1000genomes	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	NA	NA	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	g.chr1:846808C>T	ENST00000607769.1	+			c.e2-4322C>T			RP11-54O7.2_ENST00000398216.2_5'Flank|RP11-54O7.1_ENST00000448179.1_5'Flank						__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__								__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__		TGGTGAGCTGCGCCTTTGTGC	0.6059850374064838	__UNKNOWN__	__UNKNOWN__								__UNKNOWN__	__UNKNOWN__	__UNKNOWN__																																																											true	false	0.7452,0.2548	false	false	1		false	true	true	LOC284600:284600	true	true	false	true	true	false	false	false	false	false	false	false	false	false	false	false	false	false	true	false	false	false	0	true	0	false	0.725634,0.274366	false	false	false	SNV	0x05010002000517053e000100	1	false	111	rs4475691		846808	true	
 SAMD11		__UNKNOWN__	hg19	1	861349	861349	+	Missense_Mutation	SNP	C	C	T	200686669	byFrequency	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	NA	NA	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	g.chr1:861349C>T	ENST00000342066.3	+	2	111	c.28C>T	c.(28-30)Cct>Tct	p.P10S	AL645608.1_ENST00000598827.1_Missense_Mutation_p.G84E						__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__								__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__		GCAGGTGCATCCTCCGATCTG	0.6533665835411472	__UNKNOWN__	__UNKNOWN__								__UNKNOWN__	__UNKNOWN__	__UNKNOWN__																																																											true	false		false	false			false	false	false	SAMD11:148398	false	true	false	false	false	false	false	false	false	false	false	true	false	false	false	false	false	false	false	true	false	false	0	false	0	false		false	false	false	SNV	0x050000000a05040402000100	1	false	137	rs200686669		861349	true	
 SAMD11		__UNKNOWN__	hg19	1	861808	861808	+	Intron	SNP	A	A	G	13302982	byFrequency;by1000genomes	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	NA	NA	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	g.chr1:861808A>G	ENST00000342066.3	+			c.e2+415A>G			AL645608.1_ENST00000598827.1_Intron						__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__								__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__		GGACGACAGCATTTTGGGGAG	0.6134663341645885	__UNKNOWN__	__UNKNOWN__								__UNKNOWN__	__UNKNOWN__	__UNKNOWN__																																																											true	false	0.3177,0.6823	false	false	1		false	true	false	SAMD11:148398	true	true	true	true	true	false	false	false	false	false	false	false	false	false	false	false	false	false	false	false	false	false	0	true	0	false	0.289649,0.710351	false	false	false	SNV	0x05010008000515053f000100	1	false	121	rs13302982		861808	true	
 SAMD11		__UNKNOWN__	hg19	1	865545	865545	+	Missense_Mutation	SNP	G	G	A	201186828	byFrequency;by1000genomes	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	NA	NA	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	g.chr1:865545G>A	ENST00000342066.3	+	3	166	c.83G>A	c.(82-84)cGg>cAg	p.R28Q	AL645608.1_ENST00000598827.1_Intron						__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__								__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__		AACCGGGGGCGGCTGGCAGAC	0.6683291770573566	__UNKNOWN__	__UNKNOWN__								__UNKNOWN__	__UNKNOWN__	__UNKNOWN__																																																											true	false	0.9972,0.002796	false	false	1		false	false	false	SAMD11:148398	false	true	false	true	true	false	false	false	false	false	false	true	false	false	false	false	false	false	false	true	false	false	0	false	0	false	0.997012,0.00298784	false	false	false	SNV	0x050000000a05040436000100	1	false	137	rs201186828		865545	true	
@@ -150,9 +150,9 @@ TNFRSF18		__UNKNOWN__	hg19	1	1138913	1138913	+	3'UTR	SNP	T	T	C	3819001	byFrequen
 TNFRSF18		__UNKNOWN__	hg19	1	1139062	1139062	+	3'UTR	SNP	G	G	A	200799216	byFrequency;by1000genomes	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	NA	NA	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	g.chr1:1139062G>A	ENST00000379268.2	-	5					TNFRSF18_ENST00000328596.6_Missense_Mutation_p.S226L						__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__								__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__		CGCGGCCGCCGAACTGCATGG	0.685785536159601	__UNKNOWN__	__UNKNOWN__								__UNKNOWN__	__UNKNOWN__	__UNKNOWN__																																																											true	false	0.9992,0.0007987	false	false	1		false	false	false	TNFRSF18:8784	false	true	false	true	true	false	false	false	false	false	false	true	false	false	false	false	false	false	false	true	false	false	0	false	0	false	0.999966,3.4343e-005	false	true	false	SNV	0x050000800a05040436000100	1	false	137	rs200799216		1139062	true	
 TNFRSF18		__UNKNOWN__	hg19	1	1139268	1139268	+	Nonsense_Mutation	SNP	G	G	A	142584447	byFrequency	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	NA	NA	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	g.chr1:1139268G>A	ENST00000379268.2	-	5	802	c.682C>T	c.(682-684)Cga>Tga	p.R228*	TNFRSF18_ENST00000379265.5_Nonsense_Mutation_p.R221*|TNFRSF18_ENST00000486728.1_Nonsense_Mutation_p.R156*|TNFRSF18_ENST00000328596.6_Silent_p.S157S						__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__								__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__		TCTGCCGATCGCTCGCCCCGC	0.7007481296758105	__UNKNOWN__	__UNKNOWN__								__UNKNOWN__	__UNKNOWN__	__UNKNOWN__																																																											true	false		false	false			false	false	false	TNFRSF18:8784	false	true	false	false	false	false	false	false	false	false	false	false	true	false	false	false	false	false	false	true	false	false	0	false	0	true	0.999107,0.000892918	false	false	false	SNV	0x050000000705040402000100	1	false	134	rs142584447		1139268	true	
 TNFRSF18		__UNKNOWN__	hg19	1	1140855	1140855	+	Missense_Mutation	SNP	C	C	T	143092669	byFrequency;by1000genomes	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	NA	NA	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	g.chr1:1140855C>T	ENST00000379268.2	-	2	325	c.205G>A	c.(205-207)Gag>Aag	p.E69K	TNFRSF18_ENST00000379265.5_Missense_Mutation_p.E69K|TNFRSF18_ENST00000328596.6_Missense_Mutation_p.E69K|TNFRSF18_ENST00000486728.1_5'UTR						__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__								__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__		CAGTCCCACTCGGAACAGCAC	0.6658354114713217	__UNKNOWN__	__UNKNOWN__								__UNKNOWN__	__UNKNOWN__	__UNKNOWN__																																																											true	false	0.9992,0.0007987	false	false	0		false	false	false	TNFRSF18:8784	false	true	false	true	true	false	false	false	false	false	false	true	false	false	false	false	false	false	false	true	false	false	0	false	0	false	0.999107,0.000892918	false	false	false	SNV	0x050000000a05040436000100	1	false	134	rs143092669		1140855	true	
-SDF4		__UNKNOWN__	hg19	1	1152917	1152917	+	Missense_Mutation	SNP	G	G	A	113021852	byFrequency	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	NA	NA	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	g.chr1:1152917G>A	ENST00000360001.6	-	7	1327	c.1064C>T	c.(1063-1065)gCg>gTg	p.A355V	SDF4_ENST00000263741.7_3'UTR						__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__								__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__		CACGCTGCGCGCGTAGTCCAC	0.7082294264339152	__UNKNOWN__	__UNKNOWN__								__UNKNOWN__	__UNKNOWN__	__UNKNOWN__																																																											true	false		false	false			false	false	false	SDF4:51150	true	true	false	false	false	false	false	false	false	false	false	true	false	false	false	false	false	false	false	true	false	false	0	true	0	false	0.999863,0.000137372,.	false	true	false	SNV	0x050100800a05040502000100	1	false	132	rs113021852		1152917	true	
-SDF4		__UNKNOWN__	hg19	1	1152971	1152971	+	Missense_Mutation	SNP	T	T	C	149492192	byFrequency;by1000genomes	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	NA	NA	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	g.chr1:1152971T>C	ENST00000360001.6	-	7	1273	c.1010A>G	c.(1009-1011)gAg>gGg	p.E337G	SDF4_ENST00000263741.7_3'UTR						__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__								__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__		GAGCACCTCCTCGGGCTCCAG	0.6907730673316709	__UNKNOWN__	__UNKNOWN__								__UNKNOWN__	__UNKNOWN__	__UNKNOWN__																																																											true	false	0.9994,0.000599	false	false	0		false	false	false	SDF4:51150	false	true	false	false	true	false	false	false	false	false	false	true	false	false	false	false	false	false	false	true	false	true	0	false	0	false	0.999347,0.000652517	false	true	false	SNV	0x050200800a05040426000100	1	false	134	rs149492192		1152971	true	
-SDF4		__UNKNOWN__	hg19	1	1153047	1153047	+	Missense_Mutation	SNP	C	C	T	201770843	byFrequency	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	NA	NA	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	g.chr1:1153047C>T	ENST00000360001.6	-	7	1197	c.934G>A	c.(934-936)Gag>Aag	p.E312K	SDF4_ENST00000263741.7_3'UTR						__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__								__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__		GCGTTGTACTCGTTCATGGGG	0.6633416458852868	__UNKNOWN__	__UNKNOWN__								__UNKNOWN__	__UNKNOWN__	__UNKNOWN__																																																											true	false		false	false			false	false	false	SDF4:51150	false	true	false	false	false	false	false	false	false	false	false	true	false	false	false	false	false	false	false	true	false	true	0	false	0	false	0.999794,0.000206058	false	true	false	SNV	0x050200800a05040402000100	1	false	137	rs201770843		1153047	true	
+SDF4		__UNKNOWN__	hg19	1	1152917	1152917	+	Missense_Mutation	SNP	G	G	A	113021852	byFrequency	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	NA	NA	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	g.chr1:1152917G>A	ENST00000360001.6	-	7	1327	c.1064C>T	c.(1063-1065)gCg>gTg	p.A355V	SDF4_ENST00000263741.7_3'UTR|TNFRSF4_ENST00000379236.3_5'Flank|TNFRSF4_ENST00000453580.1_5'Flank						__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__								__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__		CACGCTGCGCGCGTAGTCCAC	0.7082294264339152	__UNKNOWN__	__UNKNOWN__								__UNKNOWN__	__UNKNOWN__	__UNKNOWN__																																																											true	false		false	false			false	false	false	SDF4:51150	true	true	false	false	false	false	false	false	false	false	false	true	false	false	false	false	false	false	false	true	false	false	0	true	0	false	0.999863,0.000137372,.	false	true	false	SNV	0x050100800a05040502000100	1	false	132	rs113021852		1152917	true	
+SDF4		__UNKNOWN__	hg19	1	1152971	1152971	+	Missense_Mutation	SNP	T	T	C	149492192	byFrequency;by1000genomes	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	NA	NA	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	g.chr1:1152971T>C	ENST00000360001.6	-	7	1273	c.1010A>G	c.(1009-1011)gAg>gGg	p.E337G	SDF4_ENST00000263741.7_3'UTR|TNFRSF4_ENST00000379236.3_5'Flank|TNFRSF4_ENST00000453580.1_5'Flank						__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__								__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__		GAGCACCTCCTCGGGCTCCAG	0.6907730673316709	__UNKNOWN__	__UNKNOWN__								__UNKNOWN__	__UNKNOWN__	__UNKNOWN__																																																											true	false	0.9994,0.000599	false	false	0		false	false	false	SDF4:51150	false	true	false	false	true	false	false	false	false	false	false	true	false	false	false	false	false	false	false	true	false	true	0	false	0	false	0.999347,0.000652517	false	true	false	SNV	0x050200800a05040426000100	1	false	134	rs149492192		1152971	true	
+SDF4		__UNKNOWN__	hg19	1	1153047	1153047	+	Missense_Mutation	SNP	C	C	T	201770843	byFrequency	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	NA	NA	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	g.chr1:1153047C>T	ENST00000360001.6	-	7	1197	c.934G>A	c.(934-936)Gag>Aag	p.E312K	SDF4_ENST00000263741.7_3'UTR|TNFRSF4_ENST00000379236.3_5'Flank|TNFRSF4_ENST00000453580.1_5'Flank						__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__								__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__		GCGTTGTACTCGTTCATGGGG	0.6633416458852868	__UNKNOWN__	__UNKNOWN__								__UNKNOWN__	__UNKNOWN__	__UNKNOWN__																																																											true	false		false	false			false	false	false	SDF4:51150	false	true	false	false	false	false	false	false	false	false	false	true	false	false	false	false	false	false	false	true	false	true	0	false	0	false	0.999794,0.000206058	false	true	false	SNV	0x050200800a05040402000100	1	false	137	rs201770843		1153047	true	
 FAM132A		__UNKNOWN__	hg19	1	1178848	1178848	+	Nonsense_Mutation	SNP	G	G	A	115005664	byFrequency;by1000genomes	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	NA	NA	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	g.chr1:1178848G>A	ENST00000330388.2	-	5	648	c.616C>T	c.(616-618)Cag>Tag	p.Q206*							__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__								__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__		GCAGAGAACTGGAAGATGCCG	0.71571072319202	__UNKNOWN__	__UNKNOWN__								__UNKNOWN__	__UNKNOWN__	__UNKNOWN__																																																											true	false	0.9968,0.003195	false	false	1		false	false	false	FAM132A:388581	false	true	false	true	true	false	false	false	false	false	false	false	true	false	false	false	false	false	false	true	false	false	0	false	0	false	0.993474,0.00652562	false	false	false	SNV	0x050000000605040436000100	1	false	132	rs115005664		1178848	true	
 FAM132A		__UNKNOWN__	hg19	1	1179619	1179619	+	Nonsense_Mutation	SNP	C	C	A	201741650	byFrequency	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	NA	NA	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	g.chr1:1179619C>A	ENST00000330388.2	-	3	363	c.331G>T	c.(331-333)Gaa>Taa	p.E111*							__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__								__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__		GCGGTCACTTCTGCACCTGGA	0.6982543640897756	__UNKNOWN__	__UNKNOWN__								__UNKNOWN__	__UNKNOWN__	__UNKNOWN__																																																											true	false		false	false			false	false	false	FAM132A:388581	false	true	false	false	false	false	false	false	false	false	false	false	true	false	false	false	false	false	false	true	false	false	0	false	0	false	0.999966,3.43454e-005	false	false	false	SNV	0x050000000605040402000100	1	false	137	rs201741650		1179619	true	
 SCNN1D		__UNKNOWN__	hg19	1	1211292	1211292	+	5'Flank	SNP	C	C	T	6685064	byFrequency;by1000genomes	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	NA	NA	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	g.chr1:1211292C>T	ENST00000338555.2	+						UBE2J2_ENST00000347370.2_5'Flank|UBE2J2_ENST00000348298.7_5'Flank|UBE2J2_ENST00000349431.6_5'Flank|UBE2J2_ENST00000360466.2_5'Flank|SCNN1D_ENST00000379116.5_5'Flank|UBE2J2_ENST00000400929.2_5'Flank|UBE2J2_ENST00000400930.4_5'Flank|UBE2J2_ENST00000491779.1_5'Flank|RP5-902P8.10_ENST00000453732.1_RNA						__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__								__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__		ATGTTATAGGCAGATTCAAAA	0.44389027431421446	__UNKNOWN__	__UNKNOWN__								__UNKNOWN__	__UNKNOWN__	__UNKNOWN__																																																											true	false	0.5695,0.4305	false	false	1		false	true	false	LOC101928895:101928895	true	true	true	true	true	false	false	false	false	false	false	false	false	false	false	false	false	false	false	false	false	false	0	true	0	false	0.693592,0.306408	false	false	false	SNV	0x05010008000515053f000100	1	false	116	rs6685064		1211292	true	
@@ -163,22 +163,22 @@ SCNN1D		__UNKNOWN__	hg19	1	1222519	1222519	+	Nonsense_Mutation	SNP	C	C	T	1485887
 ACAP3		__UNKNOWN__	hg19	1	1227897	1227897	+	3'UTR	SNP	A	A	G	3737721	byFrequency;by1000genomes	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	NA	NA	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	g.chr1:1227897A>G	ENST00000354700.5	-	24					ACAP3_ENST00000353662.3_3'UTR						__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__								__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__		CTTCAGGGTCACAGGCAGCAG	0.655860349127182	__UNKNOWN__	__UNKNOWN__								__UNKNOWN__	__UNKNOWN__	__UNKNOWN__																																																											true	false	0.772,0.228	false	false	1		false	true	false	SCNN1D:6339|ACAP3:116983	true	true	true	true	true	false	false	false	false	false	false	false	false	false	false	false	false	false	false	false	true	false	0	true	0	false	0.918916,0.0810839	false	true	false	SNV	0x05010088000515053f000100	1	false	107	rs3737721		1227897	true	
 CPSF3L		__UNKNOWN__	hg19	1	1249193	1249194	+	Frame_Shift_Ins	INS	-	-	GCAA	752230074		__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	NA	NA	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	g.chr1:1249193_1249194insGCAA	ENST00000435064.1	-	9	959	c.875_876insTTGC	c.(874-876)aagfs	p.K292fs	CPSF3L_ENST00000421495.2_Frame_Shift_Ins_p.K34fs|CPSF3L_ENST00000450926.2_Frame_Shift_Ins_p.K270fs|CPSF3L_ENST00000411962.1_Frame_Shift_Ins_p.K194fs|CPSF3L_ENST00000419704.1_Frame_Shift_Ins_p.K191fs|CPSF3L_ENST00000540437.1_Frame_Shift_Ins_p.K298fs|CPSF3L_ENST00000545578.1_Frame_Shift_Ins_p.K263fs|CPSF3L_ENST00000462432.1_Intron						__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__								__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__		CACGAAAGTCTTGCGGATCT	0.6325	__UNKNOWN__	__UNKNOWN__								__UNKNOWN__	__UNKNOWN__	__UNKNOWN__																																																											true	false		false	false			false	false	false	MIR6727:102465435|CPSF3L:54973	false	true	false	false	false	false	false	false	false	false	true	false	false	false	false	false	false	false	true	true	false	false	0	false	0	false		false	false	false	DIV	0x050000021205000402000200	1	false	144	rs752230074		1249193	false	
 CPSF3L		__UNKNOWN__	hg19	1	1250794	1250794	+	Nonsense_Mutation	SNP	G	G	A	373723769	byFrequency	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	NA	NA	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	g.chr1:1250794G>A	ENST00000435064.1	-	6	636	c.553C>T	c.(553-555)Cga>Tga	p.R185*	CPSF3L_ENST00000450926.2_Nonsense_Mutation_p.R163*|CPSF3L_ENST00000411962.1_Nonsense_Mutation_p.R87*|CPSF3L_ENST00000419704.1_Nonsense_Mutation_p.R84*|CPSF3L_ENST00000421495.2_5'UTR|CPSF3L_ENST00000540437.1_Nonsense_Mutation_p.R191*|CPSF3L_ENST00000545578.1_Nonsense_Mutation_p.R156*|CPSF3L_ENST00000462432.1_Intron						__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__								__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__		CCTAAGTGTCGGTCTGGGGTC	0.6084788029925187	__UNKNOWN__	__UNKNOWN__								__UNKNOWN__	__UNKNOWN__	__UNKNOWN__																																																											true	false		false	false			false	false	false	CPSF3L:54973	false	true	false	false	false	false	false	false	false	false	false	true	true	false	false	false	false	false	false	true	false	true	0	false	0	false		false	false	false	SNV	0x050200000e05040402000100	1	false	138	rs373723769		1250794	true	
-CPSF3L		__UNKNOWN__	hg19	1	1254678	1254678	+	Nonsense_Mutation	SNP	G	G	A	200207309		__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	NA	NA	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	g.chr1:1254678G>A	ENST00000435064.1	-	4	510	c.427C>T	c.(427-429)Cag>Tag	p.Q143*	CPSF3L_ENST00000450926.2_Nonsense_Mutation_p.Q143*|CPSF3L_ENST00000421495.2_Intron|CPSF3L_ENST00000411962.1_Intron|CPSF3L_ENST00000419704.1_Intron|CPSF3L_ENST00000540437.1_Nonsense_Mutation_p.Q149*|CPSF3L_ENST00000545578.1_Nonsense_Mutation_p.Q114*|CPSF3L_ENST00000462432.1_5'Flank						__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__								__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__		AACCTGACCTGGACCGTCTGG	0.628428927680798	__UNKNOWN__	__UNKNOWN__								__UNKNOWN__	__UNKNOWN__	__UNKNOWN__																																																											true	false		false	false			false	false	false	CPSF3L:54973	false	true	true	false	false	false	false	false	false	false	false	false	true	false	false	false	false	false	true	true	false	true	0	false	0	false		false	false	false	SNV	0x0502000a0605000402000100	1	false	137	rs200207309		1254678	false	
-CPSF3L		__UNKNOWN__	hg19	1	1256453	1256453	+	Nonsense_Mutation	SNP	G	G	A	200498230	byFrequency;by1000genomes	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	NA	NA	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	g.chr1:1256453G>A	ENST00000435064.1	-	2	132	c.49C>T	c.(49-51)Cga>Tga	p.R17*	CPSF3L_ENST00000450926.2_Nonsense_Mutation_p.R17*|CPSF3L_ENST00000419704.1_Nonsense_Mutation_p.R17*|CPSF3L_ENST00000421495.2_Intron|CPSF3L_ENST00000411962.1_Intron|CPSF3L_ENST00000540437.1_Nonsense_Mutation_p.R23*|CPSF3L_ENST00000545578.1_5'UTR|GLTPD1_ENST00000343938.4_5'Flank|CPSF3L_ENST00000462432.1_5'Flank|GLTPD1_ENST00000464957.1_5'Flank						__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__								__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__		ATGCAGCTTCGGCCCACGTCC	0.6458852867830424	__UNKNOWN__	__UNKNOWN__								__UNKNOWN__	__UNKNOWN__	__UNKNOWN__																																																											true	false	0.9998,0.0001997	false	false	0		false	false	false	CPSF3L:54973	false	true	true	true	true	false	false	false	false	false	false	false	true	false	false	false	false	false	false	true	false	true	0	false	0	false	0.999897,0.000103029	false	false	true	SNV	0x050200480605040436000100	1	false	137	rs200498230		1256453	true	
+CPSF3L		__UNKNOWN__	hg19	1	1254678	1254678	+	Nonsense_Mutation	SNP	G	G	A	200207309		__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	NA	NA	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	g.chr1:1254678G>A	ENST00000435064.1	-	4	510	c.427C>T	c.(427-429)Cag>Tag	p.Q143*	CPSF3L_ENST00000450926.2_Nonsense_Mutation_p.Q143*|CPSF3L_ENST00000421495.2_Intron|CPSF3L_ENST00000411962.1_Intron|CPSF3L_ENST00000419704.1_Intron|CPSF3L_ENST00000540437.1_Nonsense_Mutation_p.Q149*|CPSF3L_ENST00000545578.1_Nonsense_Mutation_p.Q114*|CPSF3L_ENST00000462432.1_5'Flank|RP5-890O3.9_ENST00000444968.1_5'Flank						__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__								__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__		AACCTGACCTGGACCGTCTGG	0.628428927680798	__UNKNOWN__	__UNKNOWN__								__UNKNOWN__	__UNKNOWN__	__UNKNOWN__																																																											true	false		false	false			false	false	false	CPSF3L:54973	false	true	true	false	false	false	false	false	false	false	false	false	true	false	false	false	false	false	true	true	false	true	0	false	0	false		false	false	false	SNV	0x0502000a0605000402000100	1	false	137	rs200207309		1254678	false	
+CPSF3L		__UNKNOWN__	hg19	1	1256453	1256453	+	Nonsense_Mutation	SNP	G	G	A	200498230	byFrequency;by1000genomes	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	NA	NA	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	g.chr1:1256453G>A	ENST00000435064.1	-	2	132	c.49C>T	c.(49-51)Cga>Tga	p.R17*	CPSF3L_ENST00000450926.2_Nonsense_Mutation_p.R17*|CPSF3L_ENST00000419704.1_Nonsense_Mutation_p.R17*|CPSF3L_ENST00000421495.2_Intron|CPSF3L_ENST00000411962.1_Intron|CPSF3L_ENST00000540437.1_Nonsense_Mutation_p.R23*|CPSF3L_ENST00000545578.1_5'UTR|GLTPD1_ENST00000343938.4_5'Flank|CPSF3L_ENST00000462432.1_5'Flank|GLTPD1_ENST00000464957.1_5'Flank|RP5-890O3.9_ENST00000444968.1_5'Flank						__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__								__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__		ATGCAGCTTCGGCCCACGTCC	0.6458852867830424	__UNKNOWN__	__UNKNOWN__								__UNKNOWN__	__UNKNOWN__	__UNKNOWN__																																																											true	false	0.9998,0.0001997	false	false	0		false	false	false	CPSF3L:54973	false	true	true	true	true	false	false	false	false	false	false	false	true	false	false	false	false	false	false	true	false	true	0	false	0	false	0.999897,0.000103029	false	false	true	SNV	0x050200480605040436000100	1	false	137	rs200498230		1256453	true	
 VWA1		__UNKNOWN__	hg19	1	1366830	1366830	+	5'Flank	SNP	A	A	G	873927	byFrequency;by1000genomes	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	NA	NA	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	g.chr1:1366830A>G	ENST00000338660.5	+						VWA1_ENST00000404702.3_5'Flank|VWA1_ENST00000476993.1_5'Flank|RP4-758J18.10_ENST00000417917.1_RNA						__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__								__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__		CCACTTCAGGACCCTGGGTCC	0.6633416458852868	__UNKNOWN__	__UNKNOWN__								__UNKNOWN__	__UNKNOWN__	__UNKNOWN__																																																											true	false	0.3157,0.6843	false	false	1		false	true	false	LOC102724312:102724312	true	true	true	true	true	false	false	false	false	false	false	false	false	false	false	false	false	false	false	false	true	false	0	true	0	false	0.497733,0.502267	false	false	false	SNV	0x050100080005150537000100	1	false	92	rs873927		1366830	true	
 MIB2		__UNKNOWN__	hg19	1	1550992	1550992	+	Nonsense_Mutation	SNP	C	C	A	199741261	byFrequency	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	NA	NA	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	g.chr1:1550992C>A	ENST00000505820.2	+	1	170	c.153C>A	c.(151-153)tgC>tgA	p.C51*	MIB2_ENST00000520777.1_Nonsense_Mutation_p.C51*|MIB2_ENST00000355826.5_Nonsense_Mutation_p.C51*|MIB2_ENST00000518681.1_Nonsense_Mutation_p.C51*|MIB2_ENST00000357210.4_5'UTR|MIB2_ENST00000360522.4_5'UTR|MIB2_ENST00000378710.3_5'UTR|MIB2_ENST00000378708.1_5'Flank|MIB2_ENST00000378712.1_5'Flank|MIB2_ENST00000504599.1_5'Flank|RP11-345P4.9_ENST00000607222.1_RNA						__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__								__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__		TGGCGCGATGCGGGCCGTCCT	0.7630922693266833	__UNKNOWN__	__UNKNOWN__								__UNKNOWN__	__UNKNOWN__	__UNKNOWN__																																																											true	false		false	false			false	false	false	MIB2:142678	false	true	false	false	false	false	false	false	false	false	false	false	true	false	false	false	false	false	true	true	false	false	0	true	0	false	0.998798,0.00120201	false	false	false	SNV	0x050100020605040402000100	1	false	137	rs199741261		1550992	true	
 MIB2		__UNKNOWN__	hg19	1	1551927	1551927	+	Missense_Mutation	SNP	T	T	C	7418389	byFrequency;by1000genomes	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	NA	NA	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	g.chr1:1551927T>C	ENST00000505820.2	+	2	231	c.214T>C	c.(214-216)Ttc>Ctc	p.F72L	MIB2_ENST00000520777.1_Missense_Mutation_p.F72L|MIB2_ENST00000355826.5_Missense_Mutation_p.F72L|MIB2_ENST00000504599.1_5'UTR|MIB2_ENST00000518681.1_Missense_Mutation_p.F72L|MIB2_ENST00000378712.1_5'UTR|MIB2_ENST00000357210.4_Missense_Mutation_p.F15L|MIB2_ENST00000360522.4_Missense_Mutation_p.F15L|MIB2_ENST00000378710.3_Missense_Mutation_p.F15L|MIB2_ENST00000378708.1_5'Flank|RP11-345P4.9_ENST00000607222.1_5'Flank						__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__								__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__		GTCCCAAAGTTTCCAGGCATC	0.6708229426433915	__UNKNOWN__	__UNKNOWN__								__UNKNOWN__	__UNKNOWN__	__UNKNOWN__																																																											true	false	0.523,0.477	false	false	1		false	true	true	MIB2:142678	true	true	false	true	true	false	false	false	false	false	false	true	false	false	false	false	false	false	false	true	true	false	0	true	0	false	0.374373,0.625627	false	false	true	SNV	0x050100400a0517053e000100	1	false	116	rs7418389		1551927	true	
 MIB2		__UNKNOWN__	hg19	1	1551952	1551952	+	Missense_Mutation	SNP	G	G	A	199576573	byFrequency;by1000genomes	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	NA	NA	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	g.chr1:1551952G>A	ENST00000505820.2	+	2	256	c.239G>A	c.(238-240)aGg>aAg	p.R80K	MIB2_ENST00000520777.1_Missense_Mutation_p.R80K|MIB2_ENST00000355826.5_Missense_Mutation_p.R80K|MIB2_ENST00000504599.1_5'UTR|MIB2_ENST00000518681.1_Missense_Mutation_p.R80K|MIB2_ENST00000378712.1_5'UTR|MIB2_ENST00000357210.4_Missense_Mutation_p.R23K|MIB2_ENST00000360522.4_Missense_Mutation_p.R23K|MIB2_ENST00000378710.3_Missense_Mutation_p.R23K|MIB2_ENST00000378708.1_5'Flank|RP11-345P4.9_ENST00000607222.1_5'Flank						__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__								__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__		CTGCAGCCCAGGAGCCTCAAG	0.6633416458852868	__UNKNOWN__	__UNKNOWN__								__UNKNOWN__	__UNKNOWN__	__UNKNOWN__																																																											true	false	0.9982,0.001797	false	false	1		false	false	false	MIB2:142678	false	true	false	false	true	false	false	false	false	false	false	true	false	false	false	false	false	false	false	true	false	false	0	false	0	false	0.997527,0.0024727	false	false	true	SNV	0x050000400a05040426000100	1	false	137	rs199576573		1551952	true	
 MIB2		__UNKNOWN__	hg19	1	1558792	1558792	+	Missense_Mutation	SNP	T	T	C	12755088	byFrequency;by1000genomes	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	NA	NA	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	g.chr1:1558792T>C	ENST00000505820.2	+	3	322	c.305T>C	c.(304-306)aTg>aCg	p.M102T	MIB2_ENST00000520777.1_Missense_Mutation_p.M102T|MIB2_ENST00000504599.1_START_CODON_SNP_p.M1T|MIB2_ENST00000355826.5_Intron|MIB2_ENST00000378708.1_Intron|MIB2_ENST00000518681.1_Missense_Mutation_p.M102T|MIB2_ENST00000378712.1_Intron|MIB2_ENST00000357210.4_Missense_Mutation_p.M45T|MIB2_ENST00000360522.4_Missense_Mutation_p.M45T|MIB2_ENST00000378710.3_Missense_Mutation_p.M45T|MIB2_ENST00000512004.1_Intron						__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__								__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__		CGGCCCACCATGGACCCCTCT	0.7281795511221946	__UNKNOWN__	__UNKNOWN__								__UNKNOWN__	__UNKNOWN__	__UNKNOWN__																																																											true	false	0.2264,0.7736,.	false	false	1		false	true	false	MIB2:142678	true	true	true	true	true	false	false	false	false	false	false	true	false	false	false	false	false	false	false	true	false	false	0	true	0	false		false	false	false	SNV	0x050100080a0515053e000100	1	false	121	rs12755088		1558792	true	
 CDK11A		__UNKNOWN__	hg19	1	1647786	1647787	+	Splice_Site	DEL	T	T	-	748188287		__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	NA	NA	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	g.chr1:1647786delT	ENST00000358779.5	-	5	538	c.457delA	c.(457-459)aggfs	p.R153fs	CDK11A_ENST00000356200.3_Splice_Site_p.R129fs|CDK11A_ENST00000378633.1_Splice_Site_p.R153fs|CDK11A_ENST00000404249.3_Splice_Site_p.R163fs|CDK11A_ENST00000357760.2_Splice_Site_p.R153fs|CDK11A_ENST00000378638.2_Splice_Site_p.R129fs|CDK11A_ENST00000378635.3_Splice_Site_p.S153fs|RP1-283E3.8_ENST00000598846.1_Splice_Site						__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__								__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__		CCCACTCACCTTTCTCTCCTG	0.48129675810473815	__UNKNOWN__	__UNKNOWN__								__UNKNOWN__	__UNKNOWN__	__UNKNOWN__						FRAME_SHIFT_DEL																																																					true	false		false	false			false	false	false	CDK11A:728642	false	true	false	false	false	false	false	false	false	false	true	false	false	false	false	false	false	false	false	true	false	false	0	false	0	false		false	false	true	DIV	0x050000401205000402000200	1	false	144	rs748188287		1647786	false	
-C1orf86		__UNKNOWN__	hg19	1	2146966	2146966	+	5'Flank	SNP	T	T	C	7512482	byFrequency;by1000genomes	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	NA	NA	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	g.chr1:2146966T>C	ENST00000487186.1	-						AL590822.1_ENST00000545087.1_5'Flank|RP11-181G12.4_ENST00000442483.2_RNA						__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__								__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__		AGGACCTGCGTGAAGGAGCCC	0.6758104738154613	__UNKNOWN__	__UNKNOWN__								__UNKNOWN__	__UNKNOWN__	__UNKNOWN__																																																											true	false	0.7963,0.2037	false	false	1		false	true	true		true	true	false	true	true	false	false	false	false	false	false	false	false	false	false	false	false	false	false	false	false	false	0	true	0	false	0.761969,0.238031	false	false	false	SNV	0x05010000000517053f000100	1	false	116	rs7512482		2146966	true	
+C1orf86		__UNKNOWN__	hg19	1	2146966	2146966	+	5'Flank	SNP	T	T	C	7512482	byFrequency;by1000genomes	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	NA	NA	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	g.chr1:2146966T>C	ENST00000487186.1	-						AL590822.1_ENST00000545087.1_5'Flank|RP11-181G12.4_ENST00000442483.2_RNA|RP11-181G12.5_ENST00000420964.1_5'Flank						__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__								__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__		AGGACCTGCGTGAAGGAGCCC	0.6758104738154613	__UNKNOWN__	__UNKNOWN__								__UNKNOWN__	__UNKNOWN__	__UNKNOWN__																																																											true	false	0.7963,0.2037	false	false	1		false	true	true		true	true	false	true	true	false	false	false	false	false	false	false	false	false	false	false	false	false	false	false	false	false	0	true	0	false	0.761969,0.238031	false	false	false	SNV	0x05010000000517053f000100	1	false	116	rs7512482		2146966	true	
 RER1		__UNKNOWN__	hg19	1	2327075	2327075	+	5'UTR	SNP	C	C	T	3736330	byFrequency;by1000genomes	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	NA	NA	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	g.chr1:2327075C>T	ENST00000488353.1	+	1					RER1_ENST00000605895.1_Intron|RER1_ENST00000378512.1_Intron|RER1_ENST00000378518.1_Intron|RER1_ENST00000378513.3_Intron|MORN1_ENST00000378529.3_5'Flank|MORN1_ENST00000378531.3_5'Flank|MORN1_ENST00000606372.1_5'Flank						__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__								__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__		TACTTTTTCCCGAACAATTCA	0.5211970074812967	__UNKNOWN__	__UNKNOWN__								__UNKNOWN__	__UNKNOWN__	__UNKNOWN__																																																											true	false	0.7638,0.2362	false	false	1		false	true	false	RER1:11079	true	true	true	true	true	false	false	false	false	false	false	false	false	false	false	false	false	false	false	false	false	false	0	true	0	false	0.789718,0.210282	false	false	false	SNV	0x050100080005150537000100	1	false	107	rs3736330		2327075	true	
 PLCH2		__UNKNOWN__	hg19	1	2408058	2408058	+	Missense_Mutation	SNP	C	C	T	199848920	byFrequency	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	NA	NA	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	g.chr1:2408058C>T	ENST00000419816.2	+	1	305	c.31C>T	c.(31-33)Cgg>Tgg	p.R11W	PLCH2_ENST00000449969.1_Intron|PLCH2_ENST00000378486.3_Missense_Mutation_p.R11W|PLCH2_ENST00000378488.3_Missense_Mutation_p.R11W|PLCH2_ENST00000288766.5_5'UTR						__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__								__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__		CCCCGACAGCCGGACCAAGGG	0.6907730673316709	__UNKNOWN__	__UNKNOWN__								__UNKNOWN__	__UNKNOWN__	__UNKNOWN__																																																											true	false		false	false			false	false	false	PLCH2:9651	false	true	true	false	false	false	false	false	false	false	false	true	false	false	false	false	false	false	false	true	false	false	0	false	0	false		false	false	true	SNV	0x050000480a05040402000100	1	false	137	rs199848920		2408058	true	
 PANK4		__UNKNOWN__	hg19	1	2450734	2450735	+	Frame_Shift_Del	DEL	G	G	-	764053138		__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	NA	NA	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	g.chr1:2450734delG	ENST00000378466.3	-	7	897	c.883delC	c.(883-885)ctgfs	p.L295fs	PANK4_ENST00000435556.3_Frame_Shift_Del_p.L256fs						__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__								__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__		ATGTGCAGCAGGCTCTTCGCC	0.6059850374064838	__UNKNOWN__	__UNKNOWN__								__UNKNOWN__	__UNKNOWN__	__UNKNOWN__																																																											true	false		false	false			false	false	false	PANK4:55229	false	true	false	false	false	false	false	false	false	false	true	false	false	false	false	false	false	false	false	true	false	false	0	false	0	false		false	false	false	DIV	0x050000001205000402000200	1	false	144	rs764053138		2450734	false	
 MMEL1		__UNKNOWN__	hg19	1	2564465	2564465	+	5'UTR	SNP	T	T	C	12752515	byFrequency;by1000genomes	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	NA	NA	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	g.chr1:2564465T>C	ENST00000288709.6	-	1					MMEL1_ENST00000378412.3_5'Flank|MMEL1_ENST00000502556.1_5'Flank|MMEL1_ENST00000511099.1_5'Flank|RP13-436F16.1_ENST00000427302.1_RNA						__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__								__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__		TGAAGGCTTCTGGGCCTCCTT	0.6458852867830424	__UNKNOWN__	__UNKNOWN__								__UNKNOWN__	__UNKNOWN__	__UNKNOWN__																																																											true	false	0.4824,0.5176	false	false	1		false	true	true	MMEL1:79258	true	true	false	true	true	false	false	false	false	false	false	true	false	false	false	false	false	false	false	true	false	false	0	true	0	false	0.403943,0.596057	false	false	true	SNV	0x050100400a0517053e000100	1	false	121	rs12752515		2564465	true	
 TPRG1L		__UNKNOWN__	hg19	1	3542386	3542387	+	Frame_Shift_Del	DEL	A	A	-	749859577		__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	NA	NA	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	g.chr1:3542386delA	ENST00000378344.2	+	3	473	c.403delA	c.(403-405)atafs	p.I135fs	TPRG1L_ENST00000344579.5_Intron|RP11-46F15.2_ENST00000435049.1_5'Flank						__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__								__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__		GGTGGTGCGGATAGCGCTCAA	0.5486284289276808	__UNKNOWN__	__UNKNOWN__								__UNKNOWN__	__UNKNOWN__	__UNKNOWN__																																																											true	false		false	false			false	false	false	TPRG1L:127262	false	true	true	false	false	false	false	false	false	false	true	false	false	false	false	false	false	false	false	true	false	false	0	false	0	false		false	false	false	DIV	0x050000081205000402000200	1	false	144	rs749859577		3542386	false	
 DFFB		__UNKNOWN__	hg19	1	3789042	3789043	+	Frame_Shift_Del	DEL	T	T	-	755710345	byFrequency	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	NA	NA	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	g.chr1:3789042delT	ENST00000378209.3	+	6	1010	c.688delT	c.(688-690)tttfs	p.F230fs	DFFB_ENST00000338895.3_Frame_Shift_Del_p.F230fs						__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__								__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__		CCAGGGTCCCTTTGACATGGA	0.5885286783042394	__UNKNOWN__	__UNKNOWN__								__UNKNOWN__	__UNKNOWN__	__UNKNOWN__																																																											true	false		false	false			false	false	false	DFFB:1677	false	true	false	false	false	false	false	false	false	false	true	false	false	false	false	false	false	false	false	true	false	false	0	false	0	false		false	false	false	DIV	0x050000001205040402000200	1	false	144	rs755710345		3789042	true	
-DFFB		__UNKNOWN__	hg19	1	3800159	3800160	+	Frame_Shift_Del	DEL	G	G	-	777060714		__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	NA	NA	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	g.chr1:3800159delG	ENST00000378209.3	+	7	1193	c.871delG	c.(871-873)ggcfs	p.G291fs							__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__								__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__		GTATTTTTATGGCCTGCTTTT	0.46384039900249374	__UNKNOWN__	__UNKNOWN__								__UNKNOWN__	__UNKNOWN__	__UNKNOWN__																																																											true	false		false	false			false	false	false	DFFB:1677	false	false	false	false	false	false	false	false	false	false	true	false	false	false	false	false	false	false	false	true	false	false	0	false	0	false		false	false	false	DIV	0x050000001205000002000200	1	false	144	rs777060714		3800159	false	
+DFFB		__UNKNOWN__	hg19	1	3800159	3800160	+	Frame_Shift_Del	DEL	G	G	-	777060714		__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	NA	NA	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	g.chr1:3800159delG	ENST00000378209.3	+	7	1193	c.871delG	c.(871-873)ggcfs	p.G291fs	AL691523.1_ENST00000579705.1_5'Flank						__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__								__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__		GTATTTTTATGGCCTGCTTTT	0.46384039900249374	__UNKNOWN__	__UNKNOWN__								__UNKNOWN__	__UNKNOWN__	__UNKNOWN__																																																											true	false		false	false			false	false	false	DFFB:1677	false	false	false	false	false	false	false	false	false	false	true	false	false	false	false	false	false	false	false	true	false	false	0	false	0	false		false	false	false	DIV	0x050000001205000002000200	1	false	144	rs777060714		3800159	false	
 C1orf174		__UNKNOWN__	hg19	1	3821782	3821782	+	5'Flank	SNP	G	G	A	11589102	byFrequency;by1000genomes	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	NA	NA	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	g.chr1:3821782G>A	ENST00000361605.3	-						C1orf174_ENST00000486765.1_5'Flank|RP13-15E13.1_ENST00000442673.1_RNA						__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__								__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__		CTAAACTAATGTTTTCTTAAT	0.4688279301745636	__UNKNOWN__	__UNKNOWN__								__UNKNOWN__	__UNKNOWN__	__UNKNOWN__																																																											true	false	0.8093,0.1907	false	false	1		false	true	true	LINC01134:100133612	true	true	true	true	true	false	false	false	false	false	false	false	false	false	false	false	false	false	false	false	false	false	0	true	0	false	0.748643,0.251357	false	false	false	SNV	0x05010008000517053f000101	1	false	120	rs11589102		3821782	true	
 RP13-15E13.1		__UNKNOWN__	hg19	1	3822703	3822703	+	RNA	SNP	C	C	T	10909830	byFrequency;by1000genomes	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	NA	NA	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	g.chr1:3822703C>T	ENST00000442673.1	+			c.e1+5508C>T									__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__								__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__		TTTTCACCGACGCAGGCCCGG	0.5012468827930174	__UNKNOWN__	__UNKNOWN__								__UNKNOWN__	__UNKNOWN__	__UNKNOWN__																																																											true	false	0.7055,0.2945	false	false	1		false	true	true	LINC01134:100133612	true	true	true	true	true	false	false	false	false	false	false	false	false	false	false	false	false	false	false	false	false	false	0	true	0	false	0.663061,0.336939	false	false	false	SNV	0x05010008000517053f000100	1	false	120	rs10909830		3822703	true	
 RP13-15E13.1		__UNKNOWN__	hg19	1	3823395	3823395	+	RNA	SNP	C	C	T	28973022	byFrequency;by1000genomes	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	NA	NA	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	g.chr1:3823395C>T	ENST00000442673.1	+			c.e1+6200C>T									__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__								__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__		TGCAGATCCACGTCTGCCTCC	0.5411471321695761	__UNKNOWN__	__UNKNOWN__								__UNKNOWN__	__UNKNOWN__	__UNKNOWN__																																																											true	false	0.8087,0.1913	false	false	1		false	true	true	LINC01134:100133612	true	true	true	true	true	false	false	false	false	false	false	false	false	false	false	false	false	false	false	false	false	false	0	true	0	false	0.748918,0.251082	false	false	false	SNV	0x05010008000517053f000100	1	false	125	rs28973022		3823395	true	
@@ -189,14 +189,14 @@ PLEKHG5		__UNKNOWN__	hg19	1	6556585	6556585	+	Missense_Mutation	SNP	G	G	A	201669
 TAS1R1		__UNKNOWN__	hg19	1	6635346	6635347	+	Frame_Shift_Del	DEL	C	C	-	867182312		__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	NA	NA	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	g.chr1:6635346delC	ENST00000333172.6	+	3	1346	c.1154delC	c.(1153-1155)tctfs	p.S385fs	TAS1R1_ENST00000351136.3_Intron|TAS1R1_ENST00000328191.4_Frame_Shift_Del_p.S385fs|ZBTB48_ENST00000377674.4_5'Flank						__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__								__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__		TCCATGAGTTCTGCCTACAAC	0.600997506234414	__UNKNOWN__	__UNKNOWN__								__UNKNOWN__	__UNKNOWN__	__UNKNOWN__																																																											true	false		false	false			false	false	false	TAS1R1:80835	false	true	true	false	false	false	false	false	false	false	true	false	false	false	false	false	false	false	false	true	false	false	0	false	0	false		false	false	false	DIV	0x050000081205000402000200	1	false	147	rs867182312		6635346	false	
 PER3		__UNKNOWN__	hg19	1	7897139	7897140	+	Frame_Shift_Del	DEL	A	A	-	773961726		__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	NA	NA	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	g.chr1:7897139delA	ENST00000377532.3	+	20	3702	c.3479delA	c.(3478-3480)caafs	p.K1161fs	PER3_ENST00000361923.2_Frame_Shift_Del_p.K1152fs						__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__								__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__		TCTCATGGGCAAAAGGAGGAG	0.3940149625935162	__UNKNOWN__	__UNKNOWN__								__UNKNOWN__	__UNKNOWN__	__UNKNOWN__																																																											true	false		false	false			false	false	false	PER3:8863	false	true	false	false	false	false	false	false	false	false	true	false	false	false	false	false	false	false	false	true	false	false	0	false	0	false		false	false	false	DIV	0x050000001205000402000200	1	false	144	rs773961726		7897139	false	
 UTS2		__UNKNOWN__	hg19	1	7913430	7913430	+	DE_NOVO_START_IN_FRAME	SNP	G	G	A	228648	byFrequency;by1000genomes	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	NA	NA	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	g.chr1:7913430G>A	ENST00000377516.2	-	1					UTS2_ENST00000054668.5_Missense_Mutation_p.T21M|UTS2_ENST00000361696.5_5'Flank						__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__								__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__		GCAAAGAGACGTGGATTTATG	0.3566084788029925	__UNKNOWN__	__UNKNOWN__								__UNKNOWN__	__UNKNOWN__	__UNKNOWN__																																																											true	false	0.5216,0.4784	false	false	1		false	true	true	UTS2:10911	true	true	false	true	true	false	false	false	false	false	false	true	false	false	false	true	true	false	true	true	false	false	0	true	0	false	0.476578,0.523422	false	false	false	SNV	0x050128020a0517053f000101	1	false	79	rs228648		7913430	true	
-PARK7		__UNKNOWN__	hg19	1	8045015	8045020	+	In_Frame_Del	DEL	GCC	GCC	-	764877312	byFrequency	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	NA	NA	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	g.chr1:8045015_8045017delGCC	ENST00000493678.1	+	7	537_539	c.471_473delGCC	c.(469-474)gggcct>ggt	p.P158del	PARK7_ENST00000377491.1_In_Frame_Del_p.P158del|PARK7_ENST00000338639.5_In_Frame_Del_p.P158del|PARK7_ENST00000377488.1_In_Frame_Del_p.P158del|PARK7_ENST00000377493.5_In_Frame_Del_p.P138del						__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__								__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__		CAAGCCGGGGGCCTGGGACCAGC	0.4466501240694789	__UNKNOWN__	__UNKNOWN__								__UNKNOWN__	__UNKNOWN__	__UNKNOWN__																																																											true	false		false	false			false	false	false	PARK7:11315	false	true	false	false	false	false	false	false	false	false	false	false	false	false	false	false	false	false	false	false	false	false	0	false	0	false		false	false	false	DIV	0x050000000005040402000200	1	false	144	rs764877312		8045015	true	
+PARK7		__UNKNOWN__	hg19	1	8045015	8045020	+	In_Frame_Del	DEL	GCC	GCC	-	764877312	byFrequency	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	NA	NA	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	g.chr1:8045015_8045017delGCC	ENST00000493678.1	+	7	537_539	c.471_473delGCC	c.(469-474)gggcct>ggt	p.P158del	PARK7_ENST00000377491.1_In_Frame_Del_p.P158del|PARK7_ENST00000338639.5_In_Frame_Del_p.P158del|PARK7_ENST00000377488.1_In_Frame_Del_p.P158del|PARK7_ENST00000377493.5_In_Frame_Del_p.P138del|Y_RNA_ENST00000363474.1_5'Flank						__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__								__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__		CAAGCCGGGGGCCTGGGACCAGC	0.4466501240694789	__UNKNOWN__	__UNKNOWN__								__UNKNOWN__	__UNKNOWN__	__UNKNOWN__																																																											true	false		false	false			false	false	false	PARK7:11315	false	true	false	false	false	false	false	false	false	false	false	false	false	false	false	false	false	false	false	false	false	false	0	false	0	false		false	false	false	DIV	0x050000000005040402000200	1	false	144	rs764877312		8045015	true	
 LZIC		__UNKNOWN__	hg19	1	9994823	9994824	+	Frame_Shift_Del	DEL	T	T	-	866608629		__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	NA	NA	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	g.chr1:9994823delT	ENST00000377223.1	-	5	582	c.333delA	c.(331-333)gcafs	p.E112fs	LZIC_ENST00000377213.1_Frame_Shift_Del_p.E112fs|LZIC_ENST00000400903.2_Frame_Shift_Del_p.E112fs|LZIC_ENST00000541052.1_Frame_Shift_Del_p.E133fs						__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__								__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__		ATTTTACCTCTGCTAACCTTG	0.3516209476309227	__UNKNOWN__	__UNKNOWN__								__UNKNOWN__	__UNKNOWN__	__UNKNOWN__																																																											true	false		false	false			false	false	false	LZIC:84328	false	true	false	false	false	false	false	false	false	false	true	false	false	false	false	false	false	false	false	true	false	false	0	false	0	false		false	false	false	DIV	0x050000001205000402000200	1	false	147	rs866608629		9994823	false	
 PGD		__UNKNOWN__	hg19	1	10478955	10478956	+	Frame_Shift_Del	DEL	C	C	-	767877628		__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	NA	NA	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	g.chr1:10478955delC	ENST00000270776.8	+	11	1219	c.1182delC	c.(1180-1182)ttcfs	p.F395fs	PGD_ENST00000538557.1_Frame_Shift_Del_p.F382fs|PGD_ENST00000541529.1_Frame_Shift_Del_p.F373fs|PGD_ENST00000498356.1_Intron						__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__								__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__		TGGACGACTTCTTTAAGTCAG	0.46384039900249374	__UNKNOWN__	__UNKNOWN__								__UNKNOWN__	__UNKNOWN__	__UNKNOWN__																																																											true	false		false	false			false	false	false	PGD:5226	false	true	false	false	false	false	false	false	false	false	true	false	false	false	false	false	false	false	false	true	false	false	0	false	0	false		false	false	false	DIV	0x050000001205000402000200	1	false	144	rs767877628		10478955	false	
 NPPA		__UNKNOWN__	hg19	1	11906068	11906068	+	Nonstop_Mutation	SNP	A	A	G	5065	byFrequency;by1000genomes	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	NA	NA	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	g.chr1:11906068A>G	ENST00000376480.3	-	3	553	c.454T>C	c.(454-456)Tga>Cga	p.*152R	NPPA_ENST00000376476.1_Nonstop_Mutation_p.*102R|NPPA-AS1_ENST00000446542.1_RNA|NPPA-AS1_ENST00000400892.2_RNA						__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__								__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__		TGTTATCTTCAGTACTGCAAA	0.4937655860349127	__UNKNOWN__	__UNKNOWN__								__UNKNOWN__	__UNKNOWN__	__UNKNOWN__																																																											true	false	0.8209,0.1791	false	false	1		false	true	false	NPPA:4878|NPPA-AS1:100379251	true	true	true	true	true	false	false	false	false	false	false	false	false	false	false	true	true	false	false	true	false	false	0	true	0	false	0.737688,0.262312	true	false	false	SNV	0x05013808020515053f000100	1	false	52	rs5065		11906068	true	
 MFN2		__UNKNOWN__	hg19	1	12069757	12069764	+	Frame_Shift_Del	DEL	ACTT	ACTT	-	772270096		__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	NA	NA	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	g.chr1:12069757_12069760delACTT	ENST00000235329.5	+	18	2499_2502	c.2178_2181delACTT	c.(2176-2181)tcacttfs	p.L727fs	MFN2_ENST00000444836.1_Frame_Shift_Del_p.L727fs						__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__								__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__		TTCTTGACTCACTTCAGAGCAAAG	0.5693069306930693	__UNKNOWN__	__UNKNOWN__								__UNKNOWN__	__UNKNOWN__	__UNKNOWN__																																																											true	false		false	false			false	false	false	MFN2:9927	false	true	false	false	false	false	false	false	false	false	true	false	false	false	false	false	false	false	false	true	false	false	0	false	0	false		false	false	false	DIV	0x050000001205000402000200	1	false	144	rs772270096		12069757	false	
 AADACL3		__UNKNOWN__	hg19	1	12776344	12776344	+	5'UTR	SNP	A	A	T	3000859	byFrequency;by1000genomes	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	NA	NA	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	g.chr1:12776344A>T	ENST00000359318.5	+	1					AADACL3_ENST00000332530.3_START_CODON_SNP_p.M1L						__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__								__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__		TGCTGTTGACATGGGTGAGTT	0.5311720698254364	__UNKNOWN__	__UNKNOWN__								__UNKNOWN__	__UNKNOWN__	__UNKNOWN__																																																											true	false	0.3435,0.6565	false	false	1		false	true	true	AADACL3:126767	true	true	false	true	true	false	false	false	false	false	false	true	false	false	false	false	false	false	false	true	true	true	0	true	0	true		false	false	false	SNV	0x050300000b0517053f000100	1	false	101	rs3000859		12776344	true	
 PDPN		__UNKNOWN__	hg19	1	13933727	13933727	+	Missense_Mutation	SNP	A	A	G	141726617	byFrequency;by1000genomes	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	NA	NA	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	g.chr1:13933727A>G	ENST00000509009.1	+	2	156	c.112A>G	c.(112-114)Atg>Gtg	p.M38V	PDPN_ENST00000294489.6_Missense_Mutation_p.M119V|PDPN_ENST00000376057.4_Missense_Mutation_p.M119V|PDPN_ENST00000376061.4_START_CODON_SNP_p.M1V|PDPN_ENST00000513143.1_START_CODON_SNP_p.M1V|PDPN_ENST00000475043.1_START_CODON_SNP_p.M1V|PDPN_ENST00000487038.1_START_CODON_SNP_p.M1V						__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__								__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__		CGGCGTTGCCATGCCAGGTGC	0.42144638403990026	__UNKNOWN__	__UNKNOWN__								__UNKNOWN__	__UNKNOWN__	__UNKNOWN__																																																											true	false	0.9954,0.004593	false	false	1		false	false	false	PDPN:10630	false	true	false	true	true	false	false	false	false	false	false	true	false	false	false	false	false	false	false	true	false	false	0	false	0	false	0.990487,0.00951302	false	false	false	SNV	0x050000000a05040436000100	1	false	134	rs141726617		13933727	true	
-FHAD1		__UNKNOWN__	hg19	1	15671649	15671649	+	Missense_Mutation	SNP	T	T	C	200826682	byFrequency	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	NA	NA	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	g.chr1:15671649T>C	ENST00000375998.4	+	15	2135	c.2135T>C	c.(2134-2136)aTg>aCg	p.M712T	FHAD1_ENST00000358897.4_Missense_Mutation_p.M712T|FHAD1_ENST00000417793.1_Missense_Mutation_p.M712T|FHAD1_ENST00000375999.3_Missense_Mutation_p.M712T|FHAD1_ENST00000314740.8_START_CODON_SNP_p.M1T|FHAD1_ENST00000471347.1_Intron						__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__								__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__		CGGAAGAGAATGCAAGAACTG	0.571072319201995	__UNKNOWN__	__UNKNOWN__								__UNKNOWN__	__UNKNOWN__	__UNKNOWN__																																																											true	false		false	false			false	false	false	FHAD1:114827|LOC101927417:101927417	false	true	false	false	false	false	false	false	false	false	false	true	false	false	false	false	false	false	true	true	false	false	0	false	0	false	0.999554,0.000446459	false	false	false	SNV	0x050000020a05040402000100	1	false	137	rs200826682		15671649	true	
+FHAD1		__UNKNOWN__	hg19	1	15671649	15671649	+	Missense_Mutation	SNP	T	T	C	200826682	byFrequency	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	NA	NA	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	g.chr1:15671649T>C	ENST00000375998.4	+	15	2135	c.2135T>C	c.(2134-2136)aTg>aCg	p.M712T	FHAD1_ENST00000358897.4_Missense_Mutation_p.M712T|FHAD1_ENST00000417793.1_Missense_Mutation_p.M712T|FHAD1_ENST00000375999.3_Missense_Mutation_p.M712T|FHAD1_ENST00000314740.8_START_CODON_SNP_p.M1T|FHAD1_ENST00000471347.1_Intron|RP3-467K16.2_ENST00000428747.1_5'Flank						__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__								__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__		CGGAAGAGAATGCAAGAACTG	0.571072319201995	__UNKNOWN__	__UNKNOWN__								__UNKNOWN__	__UNKNOWN__	__UNKNOWN__																																																											true	false		false	false			false	false	false	FHAD1:114827|LOC101927417:101927417	false	true	false	false	false	false	false	false	false	false	false	true	false	false	false	false	false	false	true	true	false	false	0	false	0	false	0.999554,0.000446459	false	false	false	SNV	0x050000020a05040402000100	1	false	137	rs200826682		15671649	true	
 PADI4		__UNKNOWN__	hg19	1	17634718	17634718	+	START_CODON_SNP	SNP	A	A	G	141280036	byFrequency;by1000genomes	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	NA	NA	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	g.chr1:17634718A>G	ENST00000375448.4	+	1	27	c.1A>G	c.(1-3)Atg>Gtg	p.M1V	PADI4_ENST00000375453.1_START_CODON_SNP_p.M1V						__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__								__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__		TAGCCCGACGATGGCCCAGGG	0.6134663341645885	__UNKNOWN__	__UNKNOWN__								__UNKNOWN__	__UNKNOWN__	__UNKNOWN__																																																											true	false	0.9998,0.0001997	false	false	0		false	false	false	PADI4:23569	false	true	false	false	true	false	false	false	false	false	false	true	false	false	false	false	false	false	false	true	false	true	0	false	0	false	0.999176,0.000824232	false	false	false	SNV	0x050200000a05040426000100	1	false	134	rs141280036		17634718	true	
 ARHGEF10L		__UNKNOWN__	hg19	1	17942591	17942591	+	Missense_Mutation	SNP	G	G	A	201155898	byFrequency;by1000genomes	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	NA	NA	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	g.chr1:17942591G>A	ENST00000375415.1	+	7	655	c.612G>A	c.(610-612)atG>atA	p.M204I	ARHGEF10L_ENST00000361221.3_Missense_Mutation_p.M243I|ARHGEF10L_ENST00000452522.1_Missense_Mutation_p.M204I|ARHGEF10L_ENST00000434513.1_Missense_Mutation_p.M243I|ARHGEF10L_ENST00000375420.3_START_CODON_SNP_p.M1I|ARHGEF10L_ENST00000167825.4_5'Flank|ARHGEF10L_ENST00000375408.3_5'Flank|ARHGEF10L_ENST00000469726.1_Intron						__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__								__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__		TTGCTCAGATGACCCAGCTCA	0.6359102244389028	__UNKNOWN__	__UNKNOWN__								__UNKNOWN__	__UNKNOWN__	__UNKNOWN__																																																											true	false	0.9998,0.0001997	false	false	0		false	false	false	ARHGEF10L:55160	false	true	false	false	true	false	false	false	false	false	false	true	false	false	false	false	false	false	false	true	false	false	0	false	0	false	0.999863,0.000137372	false	false	false	SNV	0x050000000a05040426000100	1	false	137	rs201155898		17942591	true	
 NBPF3		__UNKNOWN__	hg19	1	21800057	21800058	+	Frame_Shift_Ins	INS	-	-	C	747645859	byFrequency	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	NA	NA	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	g.chr1:21800057_21800058insC	ENST00000318220.6	+	10	1799	c.751_752insC	c.(751-753)gatfs	p.D251fs	NBPF3_ENST00000342104.5_Frame_Shift_Ins_p.D307fs|NBPF3_ENST00000318249.5_Frame_Shift_Ins_p.D307fs|NBPF3_ENST00000454000.2_Frame_Shift_Ins_p.D237fs						__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__								__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__		GAATGGTTGGATGCTGTATG	0.4525	__UNKNOWN__	__UNKNOWN__								__UNKNOWN__	__UNKNOWN__	__UNKNOWN__																																																											true	false		false	false			false	false	false	NBPF3:84224	false	true	false	false	false	false	false	false	false	false	true	false	false	false	false	false	false	false	false	true	false	false	0	false	0	false		false	false	false	DIV	0x050000001205040402000200	1	false	144	rs747645859		21800057	true	
@@ -210,7 +210,7 @@ STPG1		__UNKNOWN__	hg19	1	24687425	24687426	+	Frame_Shift_Ins	INS	-	-	A	86862162
 ZCCHC17		__UNKNOWN__	hg19	1	31791962	31791962	+	Missense_Mutation	SNP	A	A	G	149257512	byFrequency;by1000genomes	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	NA	NA	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	g.chr1:31791962A>G	ENST00000373714.1	+	3	334	c.73A>G	c.(73-75)Atg>Gtg	p.M25V	ZCCHC17_ENST00000344147.5_Missense_Mutation_p.M25V|ZCCHC17_ENST00000546109.1_Missense_Mutation_p.M17V|ZCCHC17_ENST00000422613.2_START_CODON_SNP_p.M1V|ZCCHC17_ENST00000479629.1_Intron						__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__								__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__		ATAGGTTGCTATGGTGACAGA	0.3690773067331671	__UNKNOWN__	__UNKNOWN__								__UNKNOWN__	__UNKNOWN__	__UNKNOWN__																																																											true	false	0.9992,0.0007987	false	false	1		false	false	false	ZCCHC17:51538	false	true	false	true	true	false	false	false	false	false	false	true	false	false	false	false	false	false	false	true	false	true	0	false	0	false	0.998729,0.00127069	false	false	true	SNV	0x050200400a05040436000100	1	false	134	rs149257512		31791962	true	
 KPNA6		__UNKNOWN__	hg19	1	32620194	32620194	+	Missense_Mutation	SNP	A	A	G	147022148	byFrequency	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	NA	NA	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	g.chr1:32620194A>G	ENST00000373625.3	+	2	103	c.10A>G	c.(10-12)Atg>Gtg	p.M4V	KPNA6_ENST00000537234.1_START_CODON_SNP_p.M1V|KPNA6_ENST00000545542.1_Missense_Mutation_p.M9V|KPNA6_ENST00000469790.1_Intron						__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__								__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__		TCTAGAGACCATGGCGAGCCC	0.4688279301745636	__UNKNOWN__	__UNKNOWN__								__UNKNOWN__	__UNKNOWN__	__UNKNOWN__																																																											true	false		false	false			false	false	false	KPNA6:23633	false	true	false	false	false	false	false	false	false	false	false	true	false	false	false	false	false	false	false	true	false	false	0	false	0	false	0.999966,3.4343e-005	false	false	false	SNV	0x050000000a05040402000100	1	false	134	rs147022148		32620194	true	
 ADPRHL2		__UNKNOWN__	hg19	1	36558985	36558985	+	Nonstop_Mutation	SNP	T	T	G	183554661	byFrequency;by1000genomes	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	NA	NA	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	g.chr1:36558985T>G	ENST00000373178.4	+	6	1120	c.1090T>G	c.(1090-1092)Tga>Gga	p.*364G							__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__								__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__		CCAGAAGAGTTGATGAGGGCT	0.571072319201995	__UNKNOWN__	__UNKNOWN__								__UNKNOWN__	__UNKNOWN__	__UNKNOWN__																																																											true	false	0.9998,0.0001997	false	false	0		false	false	false	ADPRHL2:54936	false	true	false	true	true	false	false	false	false	false	false	false	false	false	false	false	false	false	false	true	false	false	0	false	0	false	0.999966,3.4343e-005	false	false	false	SNV	0x050000000205040436000100	1	false	135	rs183554661		36558985	true	
-C1orf50		__UNKNOWN__	hg19	1	43232984	43232984	+	START_CODON_SNP	SNP	T	T	C	200116115	byFrequency;by1000genomes	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	NA	NA	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	g.chr1:43232984T>C	ENST00000372525.5	+	1	45	c.2T>C	c.(1-3)aTg>aCg	p.M1T	C1orf50_ENST00000536543.1_3'UTR|C1orf50_ENST00000468913.2_5'Flank						__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__								__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__		GGCGCTGTCATGGAGGACGCC	0.6957605985037406	__UNKNOWN__	__UNKNOWN__								__UNKNOWN__	__UNKNOWN__	__UNKNOWN__																																																											true	false	0.9996,.,0.0003994	false	false	0		false	false	false	P3H1:64175|C1orf50:79078	false	true	false	true	true	false	false	false	false	false	false	true	false	false	false	false	false	false	true	true	false	false	0	false	0	false	0.999622,0.000171715,0.000206058	false	false	false	SNV	0x050000020a05040436000100	1	false	137	rs200116115		43232984	true	
+C1orf50		__UNKNOWN__	hg19	1	43232984	43232984	+	START_CODON_SNP	SNP	T	T	C	200116115	byFrequency;by1000genomes	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	NA	NA	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	g.chr1:43232984T>C	ENST00000372525.5	+	1	45	c.2T>C	c.(1-3)aTg>aCg	p.M1T	C1orf50_ENST00000536543.1_3'UTR|LEPRE1_ENST00000236040.4_5'Flank|LEPRE1_ENST00000296388.5_5'Flank|LEPRE1_ENST00000397054.3_5'Flank|C1orf50_ENST00000468913.2_5'Flank						__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__								__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__		GGCGCTGTCATGGAGGACGCC	0.6957605985037406	__UNKNOWN__	__UNKNOWN__								__UNKNOWN__	__UNKNOWN__	__UNKNOWN__																																																											true	false	0.9996,.,0.0003994	false	false	0		false	false	false	P3H1:64175|C1orf50:79078	false	true	false	true	true	false	false	false	false	false	false	true	false	false	false	false	false	false	true	true	false	false	0	false	0	false	0.999622,0.000171715,0.000206058	false	false	false	SNV	0x050000020a05040436000100	1	false	137	rs200116115		43232984	true	
 MMACHC		__UNKNOWN__	hg19	1	45974886	45974886	+	Nonstop_Mutation	SNP	G	G	C	201025783	byFrequency;by1000genomes	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	NA	NA	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	g.chr1:45974886G>C	ENST00000401061.4	+	4	1128	c.848G>C	c.(847-849)tGa>tCa	p.*283S	MMACHC_ENST00000477188.1_5'Flank						__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__								__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__		CCTGGCCCTTGATTTTCTCCC	0.5112219451371571	__UNKNOWN__	__UNKNOWN__								__UNKNOWN__	__UNKNOWN__	__UNKNOWN__																																																											true	false		false	false			false	false	false	MMACHC:25974	false	true	false	true	false	false	false	false	false	false	false	false	false	false	false	false	false	false	false	true	false	false	0	false	0	false	0.999244,0.000240401,0.000515145	false	false	false	SNV	0x050000000205040416000100	1	false	137	rs201025783		45974886	true	
 KNCN		__UNKNOWN__	hg19	1	47013404	47013404	+	Nonstop_Mutation	SNP	A	A	G	140455646	byFrequency;by1000genomes	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	NA	NA	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	g.chr1:47013404A>G	ENST00000396314.3	-	3	304	c.304T>C	c.(304-306)Tga>Cga	p.*102R	KNCN_ENST00000481882.2_Nonstop_Mutation_p.*125R|MKNK1-AS1_ENST00000602433.1_RNA|KNCN_ENST00000524908.1_Intron						__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__								__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__		ACTTTGCCTCAGCATTCCTCA	0.6508728179551122	__UNKNOWN__	__UNKNOWN__								__UNKNOWN__	__UNKNOWN__	__UNKNOWN__																																																											true	false	0.9964,0.003594	false	false	1		false	false	false	MKNK1-AS1:100507423|KNCN:148930	false	true	true	false	true	false	false	false	false	false	false	false	false	false	false	false	false	false	false	true	false	false	0	false	0	false	0.993337,0.00666255	false	false	false	SNV	0x050000080205040426000100	1	false	134	rs140455646		47013404	true	
 MOB3C		__UNKNOWN__	hg19	1	47075329	47075329	+	Nonstop_Mutation	SNP	A	A	G	149444077	byFrequency	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	NA	NA	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	g.chr1:47075329A>G	ENST00000371940.1	-	3	3793	c.718T>C	c.(718-720)Tga>Cga	p.*240R	MOB3C_ENST00000271139.8_Nonstop_Mutation_p.*269R|MOB3C_ENST00000319928.3_Nonstop_Mutation_p.*217R|MKNK1_ENST00000545730.1_Intron						__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__								__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__		ACCTGGGCTCAGTGGCAGATC	0.543640897755611	__UNKNOWN__	__UNKNOWN__								__UNKNOWN__	__UNKNOWN__	__UNKNOWN__																																																											true	false		false	false			false	false	false	MOB3C:148932	false	true	false	false	false	false	false	false	false	false	false	false	false	false	false	false	false	false	false	true	false	false	0	true	0	false	0.999931,6.8686e-005	false	false	false	SNV	0x050100000205040402000100	1	false	134	rs149444077		47075329	true	
@@ -218,7 +218,7 @@ TTC4		__UNKNOWN__	hg19	1	55207184	55207185	+	Frame_Shift_Ins	INS	-	-	AG	77545558
 C1orf177		__UNKNOWN__	hg19	1	55307347	55307347	+	Intron	SNP	T	T	G	147344078	byFrequency;by1000genomes	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	NA	NA	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	g.chr1:55307347T>G	ENST00000371273.3	+			c.e10-127T>G			C1orf177_ENST00000358193.3_Nonstop_Mutation_p.*415E						__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__								__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__		CTCACCAATGTAGGATCTCCT	0.4339152119700748	__UNKNOWN__	__UNKNOWN__								__UNKNOWN__	__UNKNOWN__	__UNKNOWN__																																																											true	false	0.9998,0.0001997	false	false	0		false	false	false	LEXM:163747	false	true	true	true	true	false	false	false	false	false	false	false	false	false	false	false	false	false	false	true	false	false	0	false	0	false	0.999451,0.000549488	false	false	false	SNV	0x050000080205040436000100	1	false	134	rs147344078		55307347	true	
 FGGY		__UNKNOWN__	hg19	1	60228254	60228254	+	Nonstop_Mutation	SNP	T	T	C	201875327	byFrequency;by1000genomes	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	NA	NA	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	g.chr1:60228254T>C	ENST00000371218.4	+	17	1910	c.1726T>C	c.(1726-1728)Tga>Cga	p.*576R	FGGY_ENST00000371212.1_Nonstop_Mutation_p.*464R|FGGY_ENST00000303721.7_Nonstop_Mutation_p.*552R|FGGY_ENST00000371210.1_Nonstop_Mutation_p.*253R|RP4-782L23.2_ENST00000443012.1_RNA						__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__								__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__		GAATGATGACTGAACAGGGCT	0.3765586034912718	__UNKNOWN__	__UNKNOWN__								__UNKNOWN__	__UNKNOWN__	__UNKNOWN__																																																											true	false	0.9996,0.0003994,.	false	false	0		false	false	false	FGGY:55277	false	true	false	true	true	false	false	false	false	false	false	false	false	false	false	false	false	false	false	true	false	false	0	false	0	false	0.999897,.,0.000103029	false	false	false	SNV	0x050000000205040436000100	1	false	137	rs201875327		60228254	true	
 SGIP1		__UNKNOWN__	hg19	1	67160814	67160814	+	Intron	SNP	C	C	T	1325267	byFrequency;by1000genomes	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	NA	NA	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	g.chr1:67160814C>T	ENST00000237247.6	+			c.e20-303C>T			SGIP1_ENST00000371037.4_Intron|SGIP1_ENST00000371039.1_Intron|SGIP1_ENST00000435165.2_DE_NOVO_START_IN_FRAME|SGIP1_ENST00000371036.3_Intron|SGIP1_ENST00000371035.3_Intron						__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__								__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__		AATATGCTGACGCCCCTGCAT	0.4014962593516209	__UNKNOWN__	__UNKNOWN__								__UNKNOWN__	__UNKNOWN__	__UNKNOWN__																																																											true	false	0.7632,0.2368	false	false	1		false	true	true	SGIP1:84251	true	true	true	true	true	false	false	false	false	false	false	false	false	false	false	false	false	false	false	false	false	false	0	true	0	false	0.864585,0.135415	false	false	false	SNV	0x05010008000517053f000100	1	false	88	rs1325267		67160814	true	
-WDR78		__UNKNOWN__	hg19	1	67288063	67288064	+	Frame_Shift_Ins	INS	-	-	CT	754415129		__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	NA	NA	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	g.chr1:67288063_67288064insCT	ENST00000371026.3	-	16	2533	c.2476_2477insAG	c.(2476-2478)actfs	p.T826fs	WDR78_ENST00000431318.1_Frame_Shift_Ins_p.T539fs						__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__								__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__		TCCAAAACAGTAGGCATATT	0.3275	__UNKNOWN__	__UNKNOWN__								__UNKNOWN__	__UNKNOWN__	__UNKNOWN__																																																											true	false		false	false			false	false	false	WDR78:79819	false	true	false	false	false	false	false	false	false	false	true	false	false	false	false	false	false	false	false	true	false	false	0	false	0	false		false	false	false	DIV	0x050000001205000402000200	1	false	144	rs754415129		67288063	false	
+WDR78		__UNKNOWN__	hg19	1	67288063	67288064	+	Frame_Shift_Ins	INS	-	-	CT	754415129		__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	NA	NA	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	g.chr1:67288063_67288064insCT	ENST00000371026.3	-	16	2533	c.2476_2477insAG	c.(2476-2478)actfs	p.T826fs	WDR78_ENST00000431318.1_Frame_Shift_Ins_p.T539fs|RP11-342H21.2_ENST00000456389.1_5'Flank						__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__								__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__		TCCAAAACAGTAGGCATATT	0.3275	__UNKNOWN__	__UNKNOWN__								__UNKNOWN__	__UNKNOWN__	__UNKNOWN__																																																											true	false		false	false			false	false	false	WDR78:79819	false	true	false	false	false	false	false	false	false	false	true	false	false	false	false	false	false	false	false	true	false	false	0	false	0	false		false	false	false	DIV	0x050000001205000402000200	1	false	144	rs754415129		67288063	false	
 IL12RB2		__UNKNOWN__	hg19	1	67773351	67773351	+	DE_NOVO_START_OUT_FRAME	SNP	C	C	T	12142823	byFrequency;by1000genomes	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	NA	NA	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	g.chr1:67773351C>T	ENST00000262345.1	+	1					IL12RB2_ENST00000371000.1_DE_NOVO_START_OUT_FRAME|IL12RB2_ENST00000541374.1_5'Flank|IL12RB2_ENST00000544434.1_5'Flank						__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__								__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__		GTGGAAACCACGGGCGCCCGC	0.6633416458852868	__UNKNOWN__	__UNKNOWN__								__UNKNOWN__	__UNKNOWN__	__UNKNOWN__																																																											true	false	0.8325,.,0.1675	false	false	1		false	true	true	IL12RB2:3595	true	true	false	true	true	false	false	false	false	false	false	false	false	false	false	false	false	false	true	false	false	false	0	true	0	false	0.85727,6.8686e-005,0.142661	false	false	true	SNV	0x05010042000517053e000100	1	false	120	rs12142823		67773351	true	
 FPGT-TNNI3K		__UNKNOWN__	hg19	1	74671167	74671168	+	Intron	INS	-	-	TTTC	763292758	byFrequency	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	NA	NA	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	g.chr1:74671167_74671168insTTTC	ENST00000370899.3	+			c.e3+4073A>ATTTC			FPGT-TNNI3K_ENST00000557284.2_Intron|FPGT_ENST00000370898.3_Frame_Shift_Ins_p.K492fs|FPGT_ENST00000534056.1_Frame_Shift_Ins_p.K225fs|FPGT_ENST00000370894.5_3'UTR|FPGT-TNNI3K_ENST00000370895.1_Intron|FPGT-TNNI3K_ENST00000370893.1_Intron|FPGT_ENST00000609362.1_Frame_Shift_Ins_p.K479fs|TNNI3K_ENST00000370891.2_Intron|FPGT_ENST00000524915.1_Intron|FPGT-TNNI3K_ENST00000533006.1_Intron						__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__								__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__		ACTTGAAAAAGAGTGTGAAA	0.395	__UNKNOWN__	__UNKNOWN__								__UNKNOWN__	__UNKNOWN__	__UNKNOWN__																																																											true	false		false	false			false	false	false	FPGT-TNNI3K:100526835|FPGT:8790	false	true	true	false	false	false	false	false	false	false	true	false	false	false	false	false	false	false	false	true	false	false	0	false	0	false	0.999966,3.4343e-005	false	true	false	DIV	0x050000881205040402000200	1	false	144	rs763292758		74671167	true	
 ODF2L		__UNKNOWN__	hg19	1	86841963	86841964	+	Frame_Shift_Ins	INS	-	-	T	867604743		__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	NA	NA	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	g.chr1:86841963_86841964insT	ENST00000370566.3	-	8	1130	c.762_763insA	c.(763-765)catfs	p.H255fs	ODF2L_ENST00000359242.3_Frame_Shift_Ins_p.H255fs|ODF2L_ENST00000294678.2_Frame_Shift_Ins_p.H255fs|ODF2L_ENST00000317336.7_Frame_Shift_Ins_p.H255fs|ODF2L_ENST00000370567.1_Frame_Shift_Ins_p.H255fs|ODF2L_ENST00000394731.1_Frame_Shift_Ins_p.H124fs|ODF2L_ENST00000524695.1_5'Flank						__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__								__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__		CTGTAAAATGGTCAAGCCTT	0.2775	__UNKNOWN__	__UNKNOWN__								__UNKNOWN__	__UNKNOWN__	__UNKNOWN__																																																											true	false		false	false			false	false	false	ODF2L:57489	false	true	false	false	false	false	false	false	false	false	true	false	false	false	false	false	false	false	false	true	false	false	0	false	0	false		false	false	false	DIV	0x050000001205000402000200	1	false	147	rs867604743		86841963	false	
@@ -226,13 +226,13 @@ GLMN		__UNKNOWN__	hg19	1	92729242	92729243	+	Frame_Shift_Ins	INS	-	-	G	763357116
 AGL		__UNKNOWN__	hg19	1	100327026	100327026	+	Intron	SNP	C	C	T	2307129	byFrequency;by1000genomes	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	NA	NA	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	g.chr1:100327026C>T	ENST00000294724.4	+			c.e3-33C>T			AGL_ENST00000361915.3_Intron|AGL_ENST00000370163.3_Intron|AGL_ENST00000370165.3_Intron|AGL_ENST00000361522.4_DE_NOVO_START_IN_FRAME|AGL_ENST00000361302.3_Intron|AGL_ENST00000370161.2_Intron						__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__								__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__		TTAAGTCCTACGATGAGTTTA	0.32418952618453867	__UNKNOWN__	__UNKNOWN__								__UNKNOWN__	__UNKNOWN__	__UNKNOWN__																																																											true	false	0.7728,0.2272	false	false	1		false	true	true	AGL:178	true	true	true	true	true	false	false	false	false	false	false	false	false	false	false	true	true	false	false	false	true	false	0	true	0	false	0.729068,0.270932	false	false	true	SNV	0x05012848000517053f000100	1	false	100	rs2307129		100327026	true	
 EPS8L3		__UNKNOWN__	hg19	1	110300600	110300601	+	Frame_Shift_Ins	INS	-	-	CTGCTGGTTTT	562835845	byFrequency	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	NA	NA	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	g.chr1:110300600_110300601insCTGCTGGTTTT	ENST00000369805.3	-	9	1031	c.800_801insAAAACCAGCAG	c.(799-801)aagfs	p.K269fs	EPS8L3_ENST00000361965.4_Frame_Shift_Ins_p.K268fs|EPS8L3_ENST00000361852.4_Frame_Shift_Ins_p.K268fs|RP4-735C1.4_ENST00000431955.1_RNA						__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__								__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__		AAATTTCTTCTTCCTGCTGG	0.58	__UNKNOWN__	__UNKNOWN__								__UNKNOWN__	__UNKNOWN__	__UNKNOWN__																																																											true	false		false	false			false	false	false	EPS8L3:79574|LOC101928585:101928585	false	true	true	false	false	false	false	false	false	false	true	false	false	false	false	false	false	false	false	true	false	false	0	false	0	false	0.999966,3.4343e-005	false	false	false	DIV	0x050000081205040402000200	1	false	142	rs562835845		110300600	true	
 WNT2B		__UNKNOWN__	hg19	1	113010195	113010195	+	DE_NOVO_START_OUT_FRAME	SNP	T	T	G	189656664	byFrequency;by1000genomes	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	NA	NA	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	g.chr1:113010195T>G	ENST00000256640.5	+	1					WNT2B_ENST00000369686.5_Missense_Mutation_p.I12M						__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__								__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__		CCATAAGCATTTTTGGAATTC	0.36658354114713215	__UNKNOWN__	__UNKNOWN__								__UNKNOWN__	__UNKNOWN__	__UNKNOWN__																																																											true	false	0.9998,0.0001997	false	false	0		false	false	false	WNT2B:7482	false	true	false	true	true	false	false	false	false	false	false	true	false	false	false	false	false	false	false	true	false	false	0	false	0	false	0.999966,3.4343e-005	false	false	true	SNV	0x050000400a05040436000100	1	false	135	rs189656664		113010195	true	
-AP4B1		__UNKNOWN__	hg19	1	114447565	114447565	+	DE_NOVO_START_OUT_FRAME	SNP	G	G	A	1217397	byFrequency;by1000genomes	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	NA	NA	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	g.chr1:114447565G>A	ENST00000369569.1	-	1					AP4B1_ENST00000256658.4_DE_NOVO_START_OUT_FRAME|AP4B1_ENST00000369566.3_5'Flank|AP4B1_ENST00000369567.1_5'Flank						__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__								__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__		AGGCCCTACCGTCGGCCGGCA	0.6309226932668329	__UNKNOWN__	__UNKNOWN__								__UNKNOWN__	__UNKNOWN__	__UNKNOWN__																																																											true	false	0.6705,0.3295	false	false	1		false	true	false	DCLRE1B:64858|AP4B1:10717	true	true	true	true	true	false	false	false	false	false	false	false	false	false	false	false	false	false	true	false	true	false	0	true	0	false	0.586304,0.413696	false	false	true	SNV	0x0501004a000515053f000101	1	false	87	rs1217397		114447565	true	
+AP4B1		__UNKNOWN__	hg19	1	114447565	114447565	+	DE_NOVO_START_OUT_FRAME	SNP	G	G	A	1217397	byFrequency;by1000genomes	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	NA	NA	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	g.chr1:114447565G>A	ENST00000369569.1	-	1					AP4B1_ENST00000256658.4_DE_NOVO_START_OUT_FRAME|DCLRE1B_ENST00000369563.3_5'Flank|AP4B1_ENST00000369566.3_5'Flank|AP4B1_ENST00000369567.1_5'Flank|DCLRE1B_ENST00000466480.1_5'Flank						__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__								__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__		AGGCCCTACCGTCGGCCGGCA	0.6309226932668329	__UNKNOWN__	__UNKNOWN__								__UNKNOWN__	__UNKNOWN__	__UNKNOWN__																																																											true	false	0.6705,0.3295	false	false	1		false	true	false	DCLRE1B:64858|AP4B1:10717	true	true	true	true	true	false	false	false	false	false	false	false	false	false	false	false	false	false	true	false	true	false	0	true	0	false	0.586304,0.413696	false	false	true	SNV	0x0501004a000515053f000101	1	false	87	rs1217397		114447565	true	
 HMGCS2		__UNKNOWN__	hg19	1	120307172	120307173	+	Frame_Shift_Ins	INS	-	-	TTGGCCTCCAGGGCCA			__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	NA	NA	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	g.chr1:120307172_120307173insTTGGCCTCCAGGGCCA	ENST00000369406.3	-	2	232	c.181_182insTGGCCCTGGAGGCCAA	c.(181-183)gtcfs	p.Y62fs	HMGCS2_ENST00000544913.2_Frame_Shift_Ins_p.Y62fs|HMGCS2_ENST00000476640.1_Intron						__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__								__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__		GGGAAGTAGACCTCCAGGGC	0.4875	__UNKNOWN__	__UNKNOWN__								__UNKNOWN__	__UNKNOWN__	__UNKNOWN__																																																											false	false		false	false			false	false	false		false	false	false	false	false	false	false	false	false	false	false	false	false	false	false	false	false	false	false	false	false	false		false		false		false	false	false				false					false	
 GPATCH4		__UNKNOWN__	hg19	1	156571202	156571202	+	Splice_Site	SNP	G	G	A	202090190	byFrequency	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	NA	NA	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	g.chr1:156571202G>A	ENST00000438976.2	-	1	61	c.30C>T	c.(28-30)gaC>gaT	p.D10D	GPATCH4_ENST00000368232.4_DE_NOVO_START_OUT_FRAME|GPATCH4_ENST00000334588.7_DE_NOVO_START_OUT_FRAME|GPATCH4_ENST00000497287.1_5'Flank						__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__								__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__		GCCCCTTACCGTCATTGCTGG	0.5610972568578554	__UNKNOWN__	__UNKNOWN__								__UNKNOWN__	__UNKNOWN__	__UNKNOWN__						SILENT																																																					true	false		false	false			false	false	false	GPATCH4:54865	false	true	false	false	false	false	false	false	false	false	false	false	false	false	false	false	false	false	false	true	false	false	0	false	0	true	0.999279,0.000721203	false	false	true	SNV	0x050000400305040402000100	1	false	137	rs202090190		156571202	true	
 FMO2		__UNKNOWN__	hg19	1	171154418	171154418	+	DE_NOVO_START_OUT_FRAME	SNP	C	C	T	28369797	byFrequency;by1000genomes	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	NA	NA	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	g.chr1:171154418C>T	ENST00000209929.7	+	1					FMO2_ENST00000441535.1_DE_NOVO_START_OUT_FRAME|FMO2_ENST00000529935.1_5'Flank						__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__								__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__		CTCTTAAAAACGCTTCCAACT	0.43640897755610975	__UNKNOWN__	__UNKNOWN__								__UNKNOWN__	__UNKNOWN__	__UNKNOWN__																																																											true	false	0.9882,.,0.01178	false	false	1		false	true	false	FMO2:2327	true	true	false	true	true	false	false	false	false	false	false	false	false	false	false	false	false	false	false	false	false	false	0	true	0	false	0.993028,.,0.00697163	true	false	true	SNV	0x050110400005150537000100	1	false	125	rs28369797		171154418	true	
 TRAF3IP3		__UNKNOWN__	hg19	1	209932121	209932121	+	DE_NOVO_START_OUT_FRAME	SNP	C	C	T	10489341	byFrequency;by1000genomes	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	NA	NA	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	g.chr1:209932121C>T	ENST00000367024.1	+	1					TRAF3IP3_ENST00000367025.3_Intron|TRAF3IP3_ENST00000367026.3_Intron|TRAF3IP3_ENST00000400959.3_Intron|TRAF3IP3_ENST00000010338.4_5'Flank						__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__								__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__		GAATTTCCAACGCTCAGGATC	0.5236907730673317	__UNKNOWN__	__UNKNOWN__								__UNKNOWN__	__UNKNOWN__	__UNKNOWN__																																																											true	false	0.8838,0.1162	false	false	1		false	true	false	TRAF3IP3:80342	true	true	true	true	true	false	false	false	false	false	false	false	false	false	false	true	true	false	false	false	false	false	0	true	0	false	0.849876,0.150124	false	false	true	SNV	0x05012848000515053f000100	1	false	119	rs10489341		209932121	true	
-MRPL55		__UNKNOWN__	hg19	1	228296020	228296020	+	DE_NOVO_START_IN_FRAME	SNP	C	C	A	868542799		__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	NA	NA	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	g.chr1:228296020C>A	ENST00000366735.1	-	1					MRPL55_ENST00000366734.1_DE_NOVO_START_IN_FRAME|MRPL55_ENST00000366740.1_DE_NOVO_START_IN_FRAME|MRPL55_ENST00000366742.1_DE_NOVO_START_IN_FRAME|MRPL55_ENST00000411464.2_Splice_Site|MRPL55_ENST00000366733.1_Splice_Site|MRPL55_ENST00000336520.3_Splice_Site|MRPL55_ENST00000366744.1_Splice_Site|MRPL55_ENST00000336300.5_Splice_Site|MRPL55_ENST00000348259.5_Splice_Site|MRPL55_ENST00000366736.1_Splice_Site|MRPL55_ENST00000366739.1_Splice_Site|MRPL55_ENST00000295008.4_Splice_Site|MRPL55_ENST00000366741.1_Splice_Site|MRPL55_ENST00000366747.3_Splice_Site|MRPL55_ENST00000366746.3_Splice_Site|MRPL55_ENST00000366732.1_Splice_Site|MRPL55_ENST00000366738.1_Splice_Site|MRPL55_ENST00000391867.3_DE_NOVO_START_IN_FRAME|MRPL55_ENST00000366731.5_Splice_Site|MRPL55_ENST00000430433.1_Splice_Site|MRPL55_ENST00000465397.1_Splice_Site						__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__								__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__		GGCGTGCAACCTGCTAGGCAG	0.5286783042394015	__UNKNOWN__	__UNKNOWN__								__UNKNOWN__	__UNKNOWN__	__UNKNOWN__																																																											true	true		false	false			false	false	false	MRPL55:128308	false	true	false	false	false	false	false	false	false	false	false	false	false	false	false	false	false	false	false	false	false	false	0	false	0	false	0.999931,6.86908e-005	false	false	true	SNV	0x050000600005000402000100	1	false	147	rs868542799		228296020	false	
-ADI1		__UNKNOWN__	hg19	2	3519739	3519739	+	Intron	SNP	C	C	A	6422709	byFrequency;by1000genomes	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	NA	NA	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	g.chr2:3519739C>A	ENST00000327435.6	-			c.e2+1992G>T			ADI1_ENST00000382093.5_DE_NOVO_START_OUT_FRAME						__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__								__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__		AAAACTTAGCCTATCCACTGC	0.38154613466334164	__UNKNOWN__	__UNKNOWN__								__UNKNOWN__	__UNKNOWN__	__UNKNOWN__																																																											true	false	0.8101,0.1899	false	false	1		false	true	true	ADI1:55256	true	true	true	true	true	false	false	false	false	false	false	false	false	false	false	false	false	false	false	false	false	false	0	true	0	false	0.805468,0.194532	false	false	true	SNV	0x05010048000517053f000100	1	false	116	rs6422709		3519739	true	
+MRPL55		__UNKNOWN__	hg19	1	228296020	228296020	+	DE_NOVO_START_IN_FRAME	SNP	C	C	A	868542799		__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	NA	NA	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	g.chr1:228296020C>A	ENST00000366735.1	-	1					MRPL55_ENST00000366734.1_DE_NOVO_START_IN_FRAME|MRPL55_ENST00000366740.1_DE_NOVO_START_IN_FRAME|MRPL55_ENST00000366742.1_DE_NOVO_START_IN_FRAME|MRPL55_ENST00000411464.2_Splice_Site|MRPL55_ENST00000366733.1_Splice_Site|MRPL55_ENST00000336520.3_Splice_Site|MRPL55_ENST00000366744.1_Splice_Site|MRPL55_ENST00000336300.5_Splice_Site|MRPL55_ENST00000348259.5_Splice_Site|MRPL55_ENST00000366736.1_Splice_Site|MRPL55_ENST00000366739.1_Splice_Site|MRPL55_ENST00000295008.4_Splice_Site|MRPL55_ENST00000366741.1_Splice_Site|MRPL55_ENST00000366747.3_Splice_Site|MRPL55_ENST00000366746.3_Splice_Site|MRPL55_ENST00000366732.1_Splice_Site|MRPL55_ENST00000366738.1_Splice_Site|MRPL55_ENST00000391867.3_DE_NOVO_START_IN_FRAME|MRPL55_ENST00000366731.5_Splice_Site|MRPL55_ENST00000430433.1_Splice_Site|C1orf35_ENST00000272139.4_5'Flank|C1orf35_ENST00000472617.1_5'Flank|MRPL55_ENST00000465397.1_Splice_Site						__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__								__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__		GGCGTGCAACCTGCTAGGCAG	0.5286783042394015	__UNKNOWN__	__UNKNOWN__								__UNKNOWN__	__UNKNOWN__	__UNKNOWN__																																																											true	true		false	false			false	false	false	MRPL55:128308	false	true	false	false	false	false	false	false	false	false	false	false	false	false	false	false	false	false	false	false	false	false	0	false	0	false	0.999931,6.86908e-005	false	false	true	SNV	0x050000600005000402000100	1	false	147	rs868542799		228296020	false	
+ADI1		__UNKNOWN__	hg19	2	3519739	3519739	+	Intron	SNP	C	C	A	6422709	byFrequency;by1000genomes	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	NA	NA	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	g.chr2:3519739C>A	ENST00000327435.6	-			c.e2+1992G>T			ADI1_ENST00000382093.5_DE_NOVO_START_OUT_FRAME|AC142528.1_ENST00000450917.1_5'Flank						__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__								__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__		AAAACTTAGCCTATCCACTGC	0.38154613466334164	__UNKNOWN__	__UNKNOWN__								__UNKNOWN__	__UNKNOWN__	__UNKNOWN__																																																											true	false	0.8101,0.1899	false	false	1		false	true	true	ADI1:55256	true	true	true	true	true	false	false	false	false	false	false	false	false	false	false	false	false	false	false	false	false	false	0	true	0	false	0.805468,0.194532	false	false	true	SNV	0x05010048000517053f000100	1	false	116	rs6422709		3519739	true	
 ZNF513		__UNKNOWN__	hg19	2	27603003	27603003	+	Silent	SNP	G	G	A	144091327	byFrequency;by1000genomes	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	NA	NA	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	g.chr2:27603003G>A	ENST00000323703.6	-	2	367	c.168C>T	c.(166-168)gaC>gaT	p.D56D	ZNF513_ENST00000407879.1_DE_NOVO_START_OUT_FRAME|ZNF513_ENST00000491924.1_5'Flank						__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__								__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__		CACTGTTGCCGTCGCCTTCCT	0.5461346633416458	__UNKNOWN__	__UNKNOWN__								__UNKNOWN__	__UNKNOWN__	__UNKNOWN__																																																											true	false	0.9998,0.0001997,.	false	false	0		false	false	false	ZNF513:130557	false	true	false	true	true	false	false	false	false	false	false	true	false	false	false	false	false	false	true	true	false	false	0	false	0	true	0.999519,0.000480835,.	false	false	true	SNV	0x050000420b05040436000100	1	false	134	rs144091327		27603003	true	
 FEZ2		__UNKNOWN__	hg19	2	36818090	36818090	+	Missense_Mutation	SNP	T	T	C	35730082	byFrequency;by1000genomes	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	NA	NA	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	g.chr2:36818090T>C	ENST00000379245.4	-	2	380	c.331A>G	c.(331-333)Act>Gct	p.T111A	FEZ2_ENST00000405912.3_Missense_Mutation_p.T111A|FEZ2_ENST00000305852.7_DE_NOVO_START_OUT_FRAME						__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__								__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__		AAGGTCCTAGTATGCGATGAC	0.371571072319202	__UNKNOWN__	__UNKNOWN__								__UNKNOWN__	__UNKNOWN__	__UNKNOWN__																																																											true	false	0.9992,0.0007987	false	false	0		false	false	false	FEZ2:9637	true	true	false	true	true	false	false	false	false	false	false	true	false	false	false	false	false	false	false	true	true	false	0	true	0	false	0.999622,0.000377799	false	false	false	SNV	0x050100000a05040536000100	1	false	126	rs35730082		36818090	true	
 DHRS9		__UNKNOWN__	hg19	2	169926086	169926086	+	DE_NOVO_START_OUT_FRAME	SNP	C	C	T	11889286	byFrequency;by1000genomes	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	NA	NA	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	g.chr2:169926086C>T	ENST00000357546.2	+	2					DHRS9_ENST00000428522.1_DE_NOVO_START_OUT_FRAME|DHRS9_ENST00000327239.4_Intron|DHRS9_ENST00000602501.1_Intron|DHRS9_ENST00000421653.1_DE_NOVO_START_OUT_FRAME|DHRS9_ENST00000432060.2_Intron|DHRS9_ENST00000436483.2_5'Flank						__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__								__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__		CAGAGCTCTACGGAAACCCAG	0.4239401496259352	__UNKNOWN__	__UNKNOWN__								__UNKNOWN__	__UNKNOWN__	__UNKNOWN__																																																											true	false	0.9786,0.02137	false	false	1		false	true	false	DHRS9:10170	true	true	true	true	true	false	false	false	false	false	false	false	false	false	false	false	false	false	false	false	false	false	0	true	0	false	0.971118,0.0288825	false	false	true	SNV	0x05010048000515053f000100	1	false	120	rs11889286		169926086	true	
@@ -266,14 +266,14 @@ PIK3CA		__UNKNOWN__	hg19	3	178936090	178936091	+	In_Frame_Ins	INS	-	-	GAG			__UN
 PIK3CA		__UNKNOWN__	hg19	3	178936090	178936091	+	Frame_Shift_Ins	INS	-	-	GAGC			__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	NA	NA	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	g.chr3:178936090_178936091insGAGC	ENST00000263967.3	+	10	1789	c.1632_1633insGAGC	c.(1633-1635)gagfs	p.Q546fs							__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__								__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__		TGAAATCACTGAGCAGGAGA	0.3	__UNKNOWN__	__UNKNOWN__								__UNKNOWN__	__UNKNOWN__	__UNKNOWN__																																																											false	false		false	false			false	false	false		false	false	false	false	false	false	false	false	false	false	false	false	false	false	false	false	false	false	false	false	false	false		false		false		false	false	false				false					false	
 PRKG2		__UNKNOWN__	hg19	4	82126215	82126215	+	Splice_Site	SNP	C	C	A	866277244		__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	NA	NA	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	g.chr4:82126215C>A	ENST00000395578.1	-			c.e2+1G>T	c.e2-1		PRKG2_ENST00000264399.1_DE_NOVO_START_IN_FRAME|PRKG2_ENST00000418486.2_Splice_Site						__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__								__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__		GCTCAGGGACCTGAGAAGGCA	0.4513715710723192	__UNKNOWN__	__UNKNOWN__								__UNKNOWN__	__UNKNOWN__	__UNKNOWN__						INTRON																																																					true	true		false	false			false	false	false	PRKG2:5593	false	true	false	false	false	false	false	false	false	false	false	false	false	false	false	false	false	false	false	false	false	false	0	false	0	false		false	false	false	SNV	0x050000200005000402000100	1	false	147	rs866277244		82126215	false	
 MAPK10		__UNKNOWN__	hg19	4	87028376	87028376	+	Splice_Site	SNP	G	G	A	200989776	byFrequency	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	NA	NA	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	g.chr4:87028376G>A	ENST00000395169.3	-	5	973	c.252C>T	c.(250-252)aaC>aaT	p.N84N	MAPK10_ENST00000395166.1_Splice_Site_p.N84N|MAPK10_ENST00000395160.3_DE_NOVO_START_IN_FRAME|MAPK10_ENST00000395157.3_DE_NOVO_START_IN_FRAME|MAPK10_ENST00000359221.3_Splice_Site_p.N122N|MAPK10_ENST00000361569.2_Splice_Site_p.N122N|MAPK10_ENST00000395161.2_Splice_Site_p.N122N|MAPK10_ENST00000449047.2_DE_NOVO_START_IN_FRAME|MAPK10_ENST00000513839.1_Splice_Site						__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__								__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__		CAAAACTCACGTTTTTATGGT	0.39900249376558605	__UNKNOWN__	__UNKNOWN__								__UNKNOWN__	__UNKNOWN__	__UNKNOWN__						SILENT																																																					true	false		false	false			false	false	false	MAPK10:5602	false	true	false	false	false	false	false	false	false	false	false	false	false	false	false	false	false	false	false	true	false	true	0	false	0	true	0.999966,3.4343e-005	false	false	true	SNV	0x050200400305040402000100	1	false	137	rs200989776		87028376	true	
-IRX4		__UNKNOWN__	hg19	5	1882759	1882760	+	START_CODON_INS	INS	-	-	AT			__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	NA	NA	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	g.chr5:1882759_1882760insAT	ENST00000505790.1	-	2	460	c.2_3insAT			IRX4_ENST00000231357.2_START_CODON_INS_|IRX4_ENST00000513692.1_START_CODON_INS_|IRX4_ENST00000505938.1_5'Flank						__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__								__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__		CGGGTAGGACATGGCGGGCG	0.72	__UNKNOWN__	__UNKNOWN__								__UNKNOWN__	__UNKNOWN__	__UNKNOWN__																																																											false	false		false	false			false	false	false		false	false	false	false	false	false	false	false	false	false	false	false	false	false	false	false	false	false	false	false	false	false		false		false		false	false	false				false					false	
+IRX4		__UNKNOWN__	hg19	5	1882759	1882760	+	START_CODON_INS	INS	-	-	AT			__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	NA	NA	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	g.chr5:1882759_1882760insAT	ENST00000505790.1	-	2	460	c.2_3insAT			IRX4_ENST00000231357.2_START_CODON_INS_|IRX4_ENST00000513692.1_START_CODON_INS_|IRX4_ENST00000505938.1_5'Flank|CTD-2194D22.3_ENST00000506335.1_5'Flank|CTD-2194D22.4_ENST00000514569.1_5'Flank						__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__								__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__		CGGGTAGGACATGGCGGGCG	0.72	__UNKNOWN__	__UNKNOWN__								__UNKNOWN__	__UNKNOWN__	__UNKNOWN__																																																											false	false		false	false			false	false	false		false	false	false	false	false	false	false	false	false	false	false	false	false	false	false	false	false	false	false	false	false	false		false		false		false	false	false				false					false	
 RARS2		__UNKNOWN__	hg19	6	88255395	88255400	+	In_Frame_Del	DEL	TTT	TTT	-	757743894	byFrequency	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	NA	NA	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	g.chr6:88255395_88255397delTTT	ENST00000369536.5	-	7	521_523	c.472_474delAAA	c.(472-474)aaadel	p.K158del							__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__								__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__		CTAAAGCTTCTTTGAGATTTGCT	0.2903225806451613	__UNKNOWN__	__UNKNOWN__								__UNKNOWN__	__UNKNOWN__	__UNKNOWN__																																																											true	false		false	false			false	false	false	RARS2:57038	false	true	false	false	false	false	false	false	false	false	false	false	false	false	false	false	false	false	false	false	false	false	0	false	0	false	0.999966,3.4343e-005	false	false	false	DIV	0x050000000005040402000200	1	false	144	rs757743894		88255395	true	
 EIF3A		__UNKNOWN__	hg19	10	120795682	120795705	+	In_Frame_Del	DEL	CTCGGTCTCTTG	CTCGGTCTCTTG	-	766037789		__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	NA	NA	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	g.chr10:120795682_120795693delCTCGGTCTCTTG	ENST00000369144.3	-	22	4147_4158	c.4007_4018delCAAGAGACCGAG	c.(4006-4020)tcaagagaccgagaa>taa	p.1336_1340SRDRE>*	EIF3A_ENST00000541549.1_In_Frame_Del_p.1302_1306SRDRE>*						__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__								__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__		CGGTCTCTTTCTCGGTCTCTTGAAAGAGCTGG	0.3859223300970874	__UNKNOWN__	__UNKNOWN__								__UNKNOWN__	__UNKNOWN__	__UNKNOWN__																																																											true	false		false	false			false	false	false	EIF3A:8661	false	true	false	false	false	false	false	false	false	false	false	false	false	false	false	false	false	false	false	false	false	false	0	false	0	false		false	false	false	DIV	0x050000000005000402000200	1	false	144	rs766037789		120795682	false	
 TAS2R43		__UNKNOWN__	hg19	12	11243924	11243935	+	In_Frame_Del	DEL	TTCACC	TTCACC	-	867813065		__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	NA	NA	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	g.chr12:11243924_11243929delTTCACC	ENST00000531678.1	-	1	990_995	c.900_905delGGTGAA	c.(898-906)tgggtgaaa>tga	p.300_302WVK>*	TAS2R14_ENST00000381852.4_Intron|PRR4_ENST00000536668.1_Intron						__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__								__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__		CTTCTCTCCTTTCACCCAGTACCTCA	0.35714285714285715	__UNKNOWN__	__UNKNOWN__								__UNKNOWN__	__UNKNOWN__	__UNKNOWN__																																																											true	false		false	false			false	false	false	PRH1-TAS2R14:106707243|TAS2R43:259289|PRH1:5554|PRH1-PRR4:100533464	false	true	true	false	false	false	false	false	true	false	false	false	false	false	false	false	false	false	false	false	false	false	0	false	0	false		false	false	false	DIV	0x050000080005000402000210	1	false	147	rs867813065		11243924	false	
 OR6C76		__UNKNOWN__	hg19	12	55820041	55820042	+	Frame_Shift_Del	DEL	A	A	-	768848732		__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	NA	NA	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	g.chr12:55820041delA	ENST00000328314.3	+	1	3	c.4delA	c.(4-6)aaafs	p.N3fs							__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__								__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__		ATCAGAAATGAAAAATAGAAC	0.341645885286783	__UNKNOWN__	__UNKNOWN__								__UNKNOWN__	__UNKNOWN__	__UNKNOWN__																																																											true	false		false	false			false	false	false	OR6C76:390326	false	true	false	false	false	false	false	false	false	false	true	false	false	false	false	false	false	false	false	true	false	false	0	false	0	false	0.999966,3.4343e-005	false	false	false	DIV	0x050000001205000402000200	1	false	144	rs768848732		55820041	false	
-Unknown		__UNKNOWN__	hg19	13	60738150	60738150	+	IGR	SNP	C	C	A			__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	NA	NA	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	g.chr13:60738150C>A	no_transcript													__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__								__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__		CCCTTCCGGGCACTGCGAAAC	0.6234413965087282	__UNKNOWN__	__UNKNOWN__								__UNKNOWN__	__UNKNOWN__	__UNKNOWN__																																																											false	false		false	false			false	false	false		false	false	false	false	false	false	false	false	false	false	false	false	false	false	false	false	false	false	false	false	false	false		false		false		false	false	false				false					false	
-Unknown		__UNKNOWN__	hg19	13	60738151	60738154	+	IGR	DEL	AC	AC	-			__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	NA	NA	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	g.chr13:60738151_60738152delAC	no_transcript													__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__								__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__		CCTTCCGGGCACTGCGAAACAT	0.6218905472636815	__UNKNOWN__	__UNKNOWN__								__UNKNOWN__	__UNKNOWN__	__UNKNOWN__																																																											false	false		false	false			false	false	false		false	false	false	false	false	false	false	false	false	false	false	false	false	false	false	false	false	false	false	false	false	false		false		false		false	false	false				false					false	
-Unknown		__UNKNOWN__	hg19	13	60738150	60738151	+	IGR	INS	-	-	AC			__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	NA	NA	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	g.chr13:60738150_60738151insAC	no_transcript													__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__								__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__		CCTTCCGGGCACTGCGAAAC	0.6225	__UNKNOWN__	__UNKNOWN__								__UNKNOWN__	__UNKNOWN__	__UNKNOWN__																																																											false	false		false	false			false	false	false		false	false	false	false	false	false	false	false	false	false	false	false	false	false	false	false	false	false	false	false	false	false		false		false		false	false	false				false					false	
+DIAPH3		__UNKNOWN__	hg19	13	60738150	60738150	+	5'Flank	SNP	C	C	A			__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	NA	NA	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	g.chr13:60738150C>A	ENST00000267215.4	-						DIAPH3_ENST00000377908.2_5'Flank|DIAPH3_ENST00000400319.1_5'Flank|DIAPH3_ENST00000400320.1_5'Flank|DIAPH3_ENST00000400324.4_5'Flank|DIAPH3_ENST00000400330.1_5'Flank						__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__								__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__		CCCTTCCGGGCACTGCGAAAC	0.6234413965087282	__UNKNOWN__	__UNKNOWN__								__UNKNOWN__	__UNKNOWN__	__UNKNOWN__																																																											false	false		false	false			false	false	false		false	false	false	false	false	false	false	false	false	false	false	false	false	false	false	false	false	false	false	false	false	false		false		false		false	false	false				false					false	
+DIAPH3		__UNKNOWN__	hg19	13	60738151	60738154	+	5'Flank	DEL	AC	AC	-			__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	NA	NA	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	g.chr13:60738151_60738152delAC	ENST00000267215.4	-						DIAPH3_ENST00000377908.2_5'Flank|DIAPH3_ENST00000400319.1_5'Flank|DIAPH3_ENST00000400320.1_5'Flank|DIAPH3_ENST00000400324.4_5'Flank|DIAPH3_ENST00000400330.1_5'Flank						__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__								__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__		CCTTCCGGGCACTGCGAAACAT	0.6218905472636815	__UNKNOWN__	__UNKNOWN__								__UNKNOWN__	__UNKNOWN__	__UNKNOWN__																																																											false	false		false	false			false	false	false		false	false	false	false	false	false	false	false	false	false	false	false	false	false	false	false	false	false	false	false	false	false		false		false		false	false	false				false					false	
+DIAPH3		__UNKNOWN__	hg19	13	60738150	60738151	+	5'Flank	INS	-	-	AC			__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	NA	NA	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	g.chr13:60738150_60738151insAC	ENST00000267215.4	-						DIAPH3_ENST00000377908.2_5'Flank|DIAPH3_ENST00000400319.1_5'Flank|DIAPH3_ENST00000400320.1_5'Flank|DIAPH3_ENST00000400324.4_5'Flank|DIAPH3_ENST00000400330.1_5'Flank						__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__								__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__		CCTTCCGGGCACTGCGAAAC	0.6225	__UNKNOWN__	__UNKNOWN__								__UNKNOWN__	__UNKNOWN__	__UNKNOWN__																																																											false	false		false	false			false	false	false		false	false	false	false	false	false	false	false	false	false	false	false	false	false	false	false	false	false	false	false	false	false		false		false		false	false	false				false					false	
 MUC16		__UNKNOWN__	hg19	19	9091787	9091788	+	In_Frame_Ins	INS	-	-	TTT			__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	NA	NA	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	g.chr19:9091787_9091788insTTT	ENST00000397910.4	-	1	232	c.27_28insAAA	c.(25-30)gggtca>gggAAAtca	p.9_10insK							__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__								__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__		GAGAAGATGACCCAGGAAGG	0.5275	__UNKNOWN__	__UNKNOWN__								__UNKNOWN__	__UNKNOWN__	__UNKNOWN__																																																											false	false		false	false			false	false	false		false	false	false	false	false	false	false	false	false	false	false	false	false	false	false	false	false	false	false	false	false	false		false		false		false	false	false				false					false	
 MUC16		__UNKNOWN__	hg19	19	9091787	9091788	+	In_Frame_Ins	INS	-	-	TTTTTT			__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	NA	NA	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	g.chr19:9091787_9091788insTTTTTT	ENST00000397910.4	-	1	232	c.27_28insAAAAAA	c.(25-30)gggtca>gggAAAAAAtca	p.9_10insKK							__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__								__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__		GAGAAGATGACCCAGGAAGG	0.5275	__UNKNOWN__	__UNKNOWN__								__UNKNOWN__	__UNKNOWN__	__UNKNOWN__																																																											false	false		false	false			false	false	false		false	false	false	false	false	false	false	false	false	false	false	false	false	false	false	false	false	false	false	false	false	false		false		false		false	false	false				false					false	
 MUC16		__UNKNOWN__	hg19	19	9091788	9091795	+	Frame_Shift_Del	DEL	CCCA	CCCA	-			__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	NA	NA	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	g.chr19:9091788_9091791delCCCA	ENST00000397910.4	-	1	232_235	c.24_27delTGGG	c.(22-27)cctgggfs	p.G9fs							__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__								__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__		GAGAAGATGACCCAGGAAGGCCTG	0.5247524752475248	__UNKNOWN__	__UNKNOWN__								__UNKNOWN__	__UNKNOWN__	__UNKNOWN__																																																											false	false		false	false			false	false	false		false	false	false	false	false	false	false	false	false	false	false	false	false	false	false	false	false	false	false	false	false	false		false		false		false	false	false				false					false	
diff --git a/src/test/resources/org/broadinstitute/hellbender/tools/funcotator/validationTestData/regressionTestVariantSet1_expected.vcf b/src/test/resources/org/broadinstitute/hellbender/tools/funcotator/validationTestData/regressionTestVariantSet1_expected.vcf
index 8cf836e21ae..d90c0c686bb 100644
--- a/src/test/resources/org/broadinstitute/hellbender/tools/funcotator/validationTestData/regressionTestVariantSet1_expected.vcf
+++ b/src/test/resources/org/broadinstitute/hellbender/tools/funcotator/validationTestData/regressionTestVariantSet1_expected.vcf
@@ -1,6 +1,6 @@
 ##fileformat=VCFv4.2
 ##Funcotator Version=0.0.5 | Gencode 19 CANONICAL | Achilles 110303 | CGC full_2012_03-15 | ClinVar 12.03.20 | Cosmic 83 | CosmicFusion v83 | CosmicTissue v83 | DNARepairGenes 20171217T214737  | Familial_Cancer_Genes 20110905 | Gencode_XHGNC 75_37 | Gencode_XRefSeq 75_37 | HGNC Nov302017 | Simple_Uniprot 2014_12 | dbSNP 9606_b150
-##GATKCommandLine=<ID=Funcotator,CommandLine="Funcotator  --output /var/folders/kn/f9s03hnn0xgby73plpc89lz0_ns740/T/regressionTestVariantSet1.vcf.funcotator3317208769238313981.vcf --ref-version hg19 --data-sources-path /Users/droazen/src/hellbender/src/test/resources/large/funcotator/funcotator_dataSources/ --output-file-format VCF --variant /Users/droazen/src/hellbender/src/test/resources/org/broadinstitute/hellbender/tools/funcotator/validationTestData/regressionTestVariantSet1.vcf --reference /Users/droazen/src/hellbender/src/test/resources/large/Homo_sapiens_assembly19.fasta.gz --verbosity INFO  --remove-filtered-variants false --transcript-selection-mode CANONICAL --five-prime-flank-size 5000 --three-prime-flank-size 0 --lookahead-cache-bp 100000 --force-b37-to-hg19-reference-contig-conversion false --interval-set-rule UNION --interval-padding 0 --interval-exclusion-padding 0 --interval-merging-rule ALL --read-validation-stringency SILENT --seconds-between-progress-updates 10.0 --disable-sequence-dictionary-validation false --create-output-bam-index true --create-output-bam-md5 false --create-output-variant-index true --create-output-variant-md5 false --lenient false --add-output-sam-program-record true --add-output-vcf-command-line true --cloud-prefetch-buffer 40 --cloud-index-prefetch-buffer -1 --disable-bam-index-caching false --sites-only-vcf-output false --help false --version false --showHidden false --QUIET false --use-jdk-deflater false --use-jdk-inflater false --gcs-max-retries 20 --gcs-project-for-requester-pays  --disable-tool-default-read-filters false",Version=Unavailable-0.0.5,Date="November 15, 2018 1:44:23 PM EST">
+##GATKCommandLine=<ID=Funcotator,CommandLine="Funcotator  --output /var/folders/4p/2b7bzvcx0x7bxvbztmwk__6rkr9cxg/T/regressionTestVariantSet1.vcf.funcotator1190270229681965592.vcf --ref-version hg19 --data-sources-path /Users/jonn/Development/gatk/src/test/resources/large/funcotator/funcotator_dataSources/ --output-file-format VCF --variant /Users/jonn/Development/gatk/src/test/resources/org/broadinstitute/hellbender/tools/funcotator/validationTestData/regressionTestVariantSet1.vcf --reference /Users/jonn/Development/gatk/src/test/resources/large/Homo_sapiens_assembly19.fasta.gz --verbosity INFO  --remove-filtered-variants false --transcript-selection-mode CANONICAL --five-prime-flank-size 5000 --three-prime-flank-size 0 --lookahead-cache-bp 100000 --force-b37-to-hg19-reference-contig-conversion false --interval-set-rule UNION --interval-padding 0 --interval-exclusion-padding 0 --interval-merging-rule ALL --read-validation-stringency SILENT --seconds-between-progress-updates 10.0 --disable-sequence-dictionary-validation false --create-output-bam-index true --create-output-bam-md5 false --create-output-variant-index true --create-output-variant-md5 false --lenient false --add-output-sam-program-record true --add-output-vcf-command-line true --cloud-prefetch-buffer 40 --cloud-index-prefetch-buffer -1 --disable-bam-index-caching false --sites-only-vcf-output false --help false --version false --showHidden false --QUIET false --use-jdk-deflater false --use-jdk-inflater false --gcs-max-retries 20 --gcs-project-for-requester-pays  --disable-tool-default-read-filters false",Version=Unavailable-0.0.5,Date="November 16, 2018 12:40:25 PM EST">
 ##INFO=<ID=FUNCOTATION,Number=A,Type=String,Description="Functional annotation from the Funcotator tool.  Funcotation fields are: Gencode_19_hugoSymbol|Gencode_19_ncbiBuild|Gencode_19_chromosome|Gencode_19_start|Gencode_19_end|Gencode_19_variantClassification|Gencode_19_secondaryVariantClassification|Gencode_19_variantType|Gencode_19_refAllele|Gencode_19_tumorSeqAllele1|Gencode_19_tumorSeqAllele2|Gencode_19_genomeChange|Gencode_19_annotationTranscript|Gencode_19_transcriptStrand|Gencode_19_transcriptExon|Gencode_19_transcriptPos|Gencode_19_cDnaChange|Gencode_19_codonChange|Gencode_19_proteinChange|Gencode_19_gcContent|Gencode_19_referenceContext|Gencode_19_otherTranscripts|Achilles_Top_Genes|CGC_Name|CGC_GeneID|CGC_Chr|CGC_Chr_Band|CGC_Cancer_Somatic_Mut|CGC_Cancer_Germline_Mut|CGC_Tumour_Types__(Somatic_Mutations)|CGC_Tumour_Types_(Germline_Mutations)|CGC_Cancer_Syndrome|CGC_Tissue_Type|CGC_Cancer_Molecular_Genetics|CGC_Mutation_Type|CGC_Translocation_Partner|CGC_Other_Germline_Mut|CGC_Other_Syndrome/Disease|ClinVar_HGMD_ID|ClinVar_SYM|ClinVar_TYPE|ClinVar_ASSEMBLY|ClinVar_rs|Cosmic_overlapping_mutations|CosmicFusion_fusion_genes|CosmicFusion_fusion_id|CosmicTissue_total_alterations_in_gene|CosmicTissue_tissue_types_affected|DNARepairGenes_Activity_linked_to_OMIM|DNARepairGenes_Chromosome_location_linked_to_NCBI_MapView|DNARepairGenes_Accession_number_linked_to_NCBI_Entrez|Familial_Cancer_Genes_Syndrome|Familial_Cancer_Genes_Synonym|Familial_Cancer_Genes_Reference|Gencode_XHGNC_hgnc_id|Gencode_XRefSeq_mRNA_id|Gencode_XRefSeq_prot_acc|HGNC_HGNC_ID|HGNC_Approved_Name|HGNC_Status|HGNC_Locus_Type|HGNC_Locus_Group|HGNC_Previous_Symbols|HGNC_Previous_Name|HGNC_Synonyms|HGNC_Name_Synonyms|HGNC_Chromosome|HGNC_Date_Modified|HGNC_Date_Symbol_Changed|HGNC_Date_Name_Changed|HGNC_Accession_Numbers|HGNC_Enzyme_IDs|HGNC_Entrez_Gene_ID|HGNC_Ensembl_Gene_ID|HGNC_Pubmed_IDs|HGNC_RefSeq_IDs|HGNC_Gene_Family_ID|HGNC_Gene_Family_Name|HGNC_CCDS_IDs|HGNC_Vega_ID|HGNC_Entrez_Gene_ID(supplied_by_NCBI)|HGNC_OMIM_ID(supplied_by_OMIM)|HGNC_RefSeq(supplied_by_NCBI)|HGNC_UniProt_ID(supplied_by_UniProt)|HGNC_Ensembl_ID(supplied_by_Ensembl)|HGNC_UCSC_ID(supplied_by_UCSC)|Simple_Uniprot_uniprot_entry_name|Simple_Uniprot_DrugBank|Simple_Uniprot_alt_uniprot_accessions|Simple_Uniprot_uniprot_accession|Simple_Uniprot_GO_Biological_Process|Simple_Uniprot_GO_Cellular_Component|Simple_Uniprot_GO_Molecular_Function|dbSNP_AC|dbSNP_AF|dbSNP_AN|dbSNP_ASP|dbSNP_ASS|dbSNP_CAF|dbSNP_CDA|dbSNP_CFL|dbSNP_COMMON|dbSNP_DP|dbSNP_DSS|dbSNP_G5|dbSNP_G5A|dbSNP_GENEINFO|dbSNP_GNO|dbSNP_HD|dbSNP_INT|dbSNP_KGPhase1|dbSNP_KGPhase3|dbSNP_LSD|dbSNP_MTP|dbSNP_MUT|dbSNP_NOC|dbSNP_NOV|dbSNP_NSF|dbSNP_NSM|dbSNP_NSN|dbSNP_OM|dbSNP_OTH|dbSNP_PM|dbSNP_PMC|dbSNP_R3|dbSNP_R5|dbSNP_REF|dbSNP_RS|dbSNP_RSPOS|dbSNP_RV|dbSNP_S3D|dbSNP_SAO|dbSNP_SLO|dbSNP_SSR|dbSNP_SYN|dbSNP_TOPMED|dbSNP_TPA|dbSNP_U3|dbSNP_U5|dbSNP_VC|dbSNP_VLD|dbSNP_VP|dbSNP_WGT|dbSNP_WTD|dbSNP_dbSNPBuildID|dbSNP_ID">
 ##contig=<ID=1,length=249250621,assembly=b37>
 ##contig=<ID=2,length=243199373,assembly=b37>
@@ -91,12 +91,12 @@
 ##reference=/cromwell_root/broad-references/hg19/v0/Homo_sapiens_assembly19.fasta
 ##source=Funcotator
 #CHROM	POS	ID	REF	ALT	QUAL	FILTER	INFO
-chr1	752566	rs3094315	G	A	.	PASS	FUNCOTATION=[RP11-206L10.10|hg19|chr1|752566|752566|RNA||SNP|G|G|A|g.chr1:752566G>A|ENST00000435300.1|-|||c.e1-187C>T|||0.3690773067331671|CAAGAGAAACGTTTGACAGAG||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||true|false|0.2817_%2C_0.7183|false|false|1||false|true|false|FAM87B:400728|true|true|false|true|true|false|false|false|false|false|false|false|false|false|false|true|true|false|true|false|3094315|752566|true|false|0|true|0|false|0.351947_%2C_0.648053|false|false|false|SNV|true|0x05012802000515053f000101|1|false|103|rs3094315]
-chr1	752721	rs3131972	A	G	.	PASS	FUNCOTATION=[RP11-206L10.10|hg19|chr1|752721|752721|RNA||SNP|A|A|G|g.chr1:752721A>G|ENST00000435300.1|-|||c.e1-32T>C|||0.486284289276808|AGAAAGGAAAAGGGAAGAATG||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||true|false|0.3466_%2C_0.6534|false|false|1||false|true|true|FAM87B:400728|true|true|false|true|true|false|false|false|false|false|false|false|false|false|false|false|false|false|true|false|3131972|752721|true|false|0|true|0|false|0.393296_%2C_0.606704|false|false|false|SNV|true|0x05010002000517053f000100|1|false|103|rs3131972]
-chr1	762320	exm2268640	C	T	.	PASS	FUNCOTATION=[LINC00115|hg19|chr1|762320|762320|LINCRNA||SNP|C|C|T|g.chr1:762320C>T|ENST00000473798.1|-|||c.e1-582G>A|||0.6084788029925187|ACCCAACAGTCACCGCTAGTG||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||true|false|0.9305_%2C_0.06949|false|false|1||false|true|false|LINC01128:643837_%7C_LINC00115:79854|false|true|false|true|true|false|false|false|false|false|false|false|false|false|false|false|false|false|true|false|75333668|762320|false|false|0|true|0|false||false|false|false|SNV|true|0x050100020005150436000100|1|false|131|rs75333668]
+chr1	752566	rs3094315	G	A	.	PASS	FUNCOTATION=[RP11-206L10.10|hg19|chr1|752566|752566|RNA||SNP|G|G|A|g.chr1:752566G>A|ENST00000435300.1|-|||c.e1-187C>T|||0.3690773067331671|CAAGAGAAACGTTTGACAGAG|FAM87B_ENST00000326734.1_FIVE_PRIME_FLANK|||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||true|false|0.2817_%2C_0.7183|false|false|1||false|true|false|FAM87B:400728|true|true|false|true|true|false|false|false|false|false|false|false|false|false|false|true|true|false|true|false|3094315|752566|true|false|0|true|0|false|0.351947_%2C_0.648053|false|false|false|SNV|true|0x05012802000515053f000101|1|false|103|rs3094315]
+chr1	752721	rs3131972	A	G	.	PASS	FUNCOTATION=[RP11-206L10.10|hg19|chr1|752721|752721|RNA||SNP|A|A|G|g.chr1:752721A>G|ENST00000435300.1|-|||c.e1-32T>C|||0.486284289276808|AGAAAGGAAAAGGGAAGAATG|FAM87B_ENST00000326734.1_FIVE_PRIME_FLANK|||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||true|false|0.3466_%2C_0.6534|false|false|1||false|true|true|FAM87B:400728|true|true|false|true|true|false|false|false|false|false|false|false|false|false|false|false|false|false|true|false|3131972|752721|true|false|0|true|0|false|0.393296_%2C_0.606704|false|false|false|SNV|true|0x05010002000517053f000100|1|false|103|rs3131972]
+chr1	762320	exm2268640	C	T	.	PASS	FUNCOTATION=[LINC00115|hg19|chr1|762320|762320|LINCRNA||SNP|C|C|T|g.chr1:762320C>T|ENST00000473798.1|-|||c.e1-582G>A|||0.6084788029925187|ACCCAACAGTCACCGCTAGTG|RP11-206L10.11_ENST00000445118.2_FIVE_PRIME_FLANK|||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||true|false|0.9305_%2C_0.06949|false|false|1||false|true|false|LINC01128:643837_%7C_LINC00115:79854|false|true|false|true|true|false|false|false|false|false|false|false|false|false|false|false|false|false|true|false|75333668|762320|false|false|0|true|0|false||false|false|false|SNV|true|0x050100020005150436000100|1|false|131|rs75333668]
 chr1	798959	rs11240777	G	A	.	PASS	FUNCOTATION=[Unknown|hg19|chr1|798959|798959|IGR||SNP|G|G|A|g.chr1:798959G>A|no_transcript|||||||0.4089775561097257|TGGGCTTTAAGGTATGACTAG||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||false|false||false|false|||false|false|false||false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|||false|false||false||false||false|false|false||false|||false||]
 chr1	838555	rs4970383	C	A	.	PASS	FUNCOTATION=[RP11-54O7.16|hg19|chr1|838555|838555|FIVE_PRIME_FLANK||SNP|C|C|A|g.chr1:838555C>A|ENST00000607769.1|+||||||0.5511221945137157|GACCCCATTTCACCTTAATCG||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||false|false||false|false|||false|false|false||false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|||false|false||false||false||false|false|false||false|||false||]
-chr1	846808	rs4475691	C	T	.	PASS	FUNCOTATION=[RP11-54O7.16|hg19|chr1|846808|846808|LINCRNA||SNP|C|C|T|g.chr1:846808C>T|ENST00000607769.1|+|||c.e2-4322C>T|||0.6059850374064838|TGGTGAGCTGCGCCTTTGTGC||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||true|false|0.7452_%2C_0.2548|false|false|1||false|true|true|LOC284600:284600|true|true|false|true|true|false|false|false|false|false|false|false|false|false|false|false|false|false|true|false|4475691|846808|false|false|0|true|0|false|0.725634_%2C_0.274366|false|false|false|SNV|true|0x05010002000517053e000100|1|false|111|rs4475691]
+chr1	846808	rs4475691	C	T	.	PASS	FUNCOTATION=[RP11-54O7.16|hg19|chr1|846808|846808|LINCRNA||SNP|C|C|T|g.chr1:846808C>T|ENST00000607769.1|+|||c.e2-4322C>T|||0.6059850374064838|TGGTGAGCTGCGCCTTTGTGC|RP11-54O7.2_ENST00000398216.2_FIVE_PRIME_FLANK/RP11-54O7.1_ENST00000448179.1_FIVE_PRIME_FLANK|||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||true|false|0.7452_%2C_0.2548|false|false|1||false|true|true|LOC284600:284600|true|true|false|true|true|false|false|false|false|false|false|false|false|false|false|false|false|false|true|false|4475691|846808|false|false|0|true|0|false|0.725634_%2C_0.274366|false|false|false|SNV|true|0x05010002000517053e000100|1|false|111|rs4475691]
 chr1	861349	exm41	C	T	.	PASS	FUNCOTATION=[SAMD11|hg19|chr1|861349|861349|MISSENSE||SNP|C|C|T|g.chr1:861349C>T|ENST00000342066.3|+|2|111|c.28C>T|c.(28-30)Cct>Tct|p.P10S|0.6533665835411472|GCAGGTGCATCCTCCGATCTG|AL645608.1_ENST00000598827.1_MISSENSE_p.G84E|||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||true|false||false|false|||false|false|false|SAMD11:148398|false|true|false|false|false|false|false|false|false|false|false|true|false|false|false|false|false|false|false|true|200686669|861349|false|false|0|false|0|false||false|false|false|SNV|true|0x050000000a05040402000100|1|false|137|rs200686669]
 chr1	861808	rs13302982	A	G	.	PASS	FUNCOTATION=[SAMD11|hg19|chr1|861808|861808|INTRON||SNP|A|A|G|g.chr1:861808A>G|ENST00000342066.3|+|||c.e2+415A>G|||0.6134663341645885|GGACGACAGCATTTTGGGGAG|AL645608.1_ENST00000598827.1_INTRON|||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||true|false|0.3177_%2C_0.6823|false|false|1||false|true|false|SAMD11:148398|true|true|true|true|true|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|13302982|861808|false|false|0|true|0|false|0.289649_%2C_0.710351|false|false|false|SNV|true|0x05010008000515053f000100|1|false|121|rs13302982]
 chr1	865545	exm1916089	G	A	.	PASS	FUNCOTATION=[SAMD11|hg19|chr1|865545|865545|MISSENSE||SNP|G|G|A|g.chr1:865545G>A|ENST00000342066.3|+|3|166|c.83G>A|c.(82-84)cGg>cAg|p.R28Q|0.6683291770573566|AACCGGGGGCGGCTGGCAGAC|AL645608.1_ENST00000598827.1_INTRON|||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||true|false|0.9972_%2C_0.002796|false|false|1||false|false|false|SAMD11:148398|false|true|false|true|true|false|false|false|false|false|false|true|false|false|false|false|false|false|false|true|201186828|865545|false|false|0|false|0|false|0.997012_%2C_0.00298784|false|false|false|SNV|true|0x050000000a05040436000100|1|false|137|rs201186828]
@@ -149,9 +149,9 @@ chr1	1138913	rs3819001	T	C	.	PASS	FUNCOTATION=[TNFRSF18|hg19|chr1|1138913|113891
 chr1	1139062	exm1677	G	A	.	PASS	FUNCOTATION=[TNFRSF18|hg19|chr1|1139062|1139062|THREE_PRIME_UTR||SNP|G|G|A|g.chr1:1139062G>A|ENST00000379268.2|-|5|||||0.685785536159601|CGCGGCCGCCGAACTGCATGG|TNFRSF18_ENST00000328596.6_MISSENSE_p.S226L|||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||true|false|0.9992_%2C_0.0007987|false|false|1||false|false|false|TNFRSF18:8784|false|true|false|true|true|false|false|false|false|false|false|true|false|false|false|false|false|false|false|true|200799216|1139062|false|false|0|false|0|false|0.999966_%2C_3.4343e-005|false|true|false|SNV|true|0x050000800a05040436000100|1|false|137|rs200799216]
 chr1	1139268	exm1688	G	A	.	PASS	FUNCOTATION=[TNFRSF18|hg19|chr1|1139268|1139268|NONSENSE||SNP|G|G|A|g.chr1:1139268G>A|ENST00000379268.2|-|5|802|c.682C>T|c.(682-684)Cga>Tga|p.R228*|0.7007481296758105|TCTGCCGATCGCTCGCCCCGC|TNFRSF18_ENST00000379265.5_NONSENSE_p.R221*/TNFRSF18_ENST00000486728.1_NONSENSE_p.R156*/TNFRSF18_ENST00000328596.6_SILENT_p.S157S|||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||true|false||false|false|||false|false|false|TNFRSF18:8784|false|true|false|false|false|false|false|false|false|false|false|false|true|false|false|false|false|false|false|true|142584447|1139268|false|false|0|false|0|true|0.999107_%2C_0.000892918|false|false|false|SNV|true|0x050000000705040402000100|1|false|134|rs142584447]
 chr1	1140855	exm1726	C	T	.	PASS	FUNCOTATION=[TNFRSF18|hg19|chr1|1140855|1140855|MISSENSE||SNP|C|C|T|g.chr1:1140855C>T|ENST00000379268.2|-|2|325|c.205G>A|c.(205-207)Gag>Aag|p.E69K|0.6658354114713217|CAGTCCCACTCGGAACAGCAC|TNFRSF18_ENST00000379265.5_MISSENSE_p.E69K/TNFRSF18_ENST00000328596.6_MISSENSE_p.E69K/TNFRSF18_ENST00000486728.1_FIVE_PRIME_UTR|||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||true|false|0.9992_%2C_0.0007987|false|false|0||false|false|false|TNFRSF18:8784|false|true|false|true|true|false|false|false|false|false|false|true|false|false|false|false|false|false|false|true|143092669|1140855|false|false|0|false|0|false|0.999107_%2C_0.000892918|false|false|false|SNV|true|0x050000000a05040436000100|1|false|134|rs143092669]
-chr1	1152917	exm1808	G	A	.	PASS	FUNCOTATION=[SDF4|hg19|chr1|1152917|1152917|MISSENSE||SNP|G|G|A|g.chr1:1152917G>A|ENST00000360001.6|-|7|1327|c.1064C>T|c.(1063-1065)gCg>gTg|p.A355V|0.7082294264339152|CACGCTGCGCGCGTAGTCCAC|SDF4_ENST00000263741.7_THREE_PRIME_UTR|||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||true|false||false|false|||false|false|false|SDF4:51150|true|true|false|false|false|false|false|false|false|false|false|true|false|false|false|false|false|false|false|true|113021852|1152917|false|false|0|true|0|false|0.999863_%2C_0.000137372_%2C_.|false|true|false|SNV|true|0x050100800a05040502000100|1|false|132|rs113021852]
-chr1	1152971	exm1812	T	C	.	PASS	FUNCOTATION=[SDF4|hg19|chr1|1152971|1152971|MISSENSE||SNP|T|T|C|g.chr1:1152971T>C|ENST00000360001.6|-|7|1273|c.1010A>G|c.(1009-1011)gAg>gGg|p.E337G|0.6907730673316709|GAGCACCTCCTCGGGCTCCAG|SDF4_ENST00000263741.7_THREE_PRIME_UTR|||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||true|false|0.9994_%2C_0.000599|false|false|0||false|false|false|SDF4:51150|false|true|false|false|true|false|false|false|false|false|false|true|false|false|false|false|false|false|false|true|149492192|1152971|false|true|0|false|0|false|0.999347_%2C_0.000652517|false|true|false|SNV|true|0x050200800a05040426000100|1|false|134|rs149492192]
-chr1	1153047	exm1822	C	T	.	PASS	FUNCOTATION=[SDF4|hg19|chr1|1153047|1153047|MISSENSE||SNP|C|C|T|g.chr1:1153047C>T|ENST00000360001.6|-|7|1197|c.934G>A|c.(934-936)Gag>Aag|p.E312K|0.6633416458852868|GCGTTGTACTCGTTCATGGGG|SDF4_ENST00000263741.7_THREE_PRIME_UTR|||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||true|false||false|false|||false|false|false|SDF4:51150|false|true|false|false|false|false|false|false|false|false|false|true|false|false|false|false|false|false|false|true|201770843|1153047|false|true|0|false|0|false|0.999794_%2C_0.000206058|false|true|false|SNV|true|0x050200800a05040402000100|1|false|137|rs201770843]
+chr1	1152917	exm1808	G	A	.	PASS	FUNCOTATION=[SDF4|hg19|chr1|1152917|1152917|MISSENSE||SNP|G|G|A|g.chr1:1152917G>A|ENST00000360001.6|-|7|1327|c.1064C>T|c.(1063-1065)gCg>gTg|p.A355V|0.7082294264339152|CACGCTGCGCGCGTAGTCCAC|SDF4_ENST00000263741.7_THREE_PRIME_UTR/TNFRSF4_ENST00000379236.3_FIVE_PRIME_FLANK/TNFRSF4_ENST00000453580.1_FIVE_PRIME_FLANK|||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||true|false||false|false|||false|false|false|SDF4:51150|true|true|false|false|false|false|false|false|false|false|false|true|false|false|false|false|false|false|false|true|113021852|1152917|false|false|0|true|0|false|0.999863_%2C_0.000137372_%2C_.|false|true|false|SNV|true|0x050100800a05040502000100|1|false|132|rs113021852]
+chr1	1152971	exm1812	T	C	.	PASS	FUNCOTATION=[SDF4|hg19|chr1|1152971|1152971|MISSENSE||SNP|T|T|C|g.chr1:1152971T>C|ENST00000360001.6|-|7|1273|c.1010A>G|c.(1009-1011)gAg>gGg|p.E337G|0.6907730673316709|GAGCACCTCCTCGGGCTCCAG|SDF4_ENST00000263741.7_THREE_PRIME_UTR/TNFRSF4_ENST00000379236.3_FIVE_PRIME_FLANK/TNFRSF4_ENST00000453580.1_FIVE_PRIME_FLANK|||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||true|false|0.9994_%2C_0.000599|false|false|0||false|false|false|SDF4:51150|false|true|false|false|true|false|false|false|false|false|false|true|false|false|false|false|false|false|false|true|149492192|1152971|false|true|0|false|0|false|0.999347_%2C_0.000652517|false|true|false|SNV|true|0x050200800a05040426000100|1|false|134|rs149492192]
+chr1	1153047	exm1822	C	T	.	PASS	FUNCOTATION=[SDF4|hg19|chr1|1153047|1153047|MISSENSE||SNP|C|C|T|g.chr1:1153047C>T|ENST00000360001.6|-|7|1197|c.934G>A|c.(934-936)Gag>Aag|p.E312K|0.6633416458852868|GCGTTGTACTCGTTCATGGGG|SDF4_ENST00000263741.7_THREE_PRIME_UTR/TNFRSF4_ENST00000379236.3_FIVE_PRIME_FLANK/TNFRSF4_ENST00000453580.1_FIVE_PRIME_FLANK|||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||true|false||false|false|||false|false|false|SDF4:51150|false|true|false|false|false|false|false|false|false|false|false|true|false|false|false|false|false|false|false|true|201770843|1153047|false|true|0|false|0|false|0.999794_%2C_0.000206058|false|true|false|SNV|true|0x050200800a05040402000100|1|false|137|rs201770843]
 chr1	1178848	exm1965	G	A	.	PASS	FUNCOTATION=[FAM132A|hg19|chr1|1178848|1178848|NONSENSE||SNP|G|G|A|g.chr1:1178848G>A|ENST00000330388.2|-|5|648|c.616C>T|c.(616-618)Cag>Tag|p.Q206*|0.71571072319202|GCAGAGAACTGGAAGATGCCG||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||true|false|0.9968_%2C_0.003195|false|false|1||false|false|false|FAM132A:388581|false|true|false|true|true|false|false|false|false|false|false|false|true|false|false|false|false|false|false|true|115005664|1178848|false|false|0|false|0|false|0.993474_%2C_0.00652562|false|false|false|SNV|true|0x050000000605040436000100|1|false|132|rs115005664]
 chr1	1179619	exm1987	C	A	.	PASS	FUNCOTATION=[FAM132A|hg19|chr1|1179619|1179619|NONSENSE||SNP|C|C|A|g.chr1:1179619C>A|ENST00000330388.2|-|3|363|c.331G>T|c.(331-333)Gaa>Taa|p.E111*|0.6982543640897756|GCGGTCACTTCTGCACCTGGA||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||true|false||false|false|||false|false|false|FAM132A:388581|false|true|false|false|false|false|false|false|false|false|false|false|true|false|false|false|false|false|false|true|201741650|1179619|false|false|0|false|0|false|0.999966_%2C_3.43454e-005|false|false|false|SNV|true|0x050000000605040402000100|1|false|137|rs201741650]
 chr1	1211292	exm-rs6685064	C	T	.	PASS	FUNCOTATION=[SCNN1D|hg19|chr1|1211292|1211292|FIVE_PRIME_FLANK||SNP|C|C|T|g.chr1:1211292C>T|ENST00000338555.2|+||||||0.44389027431421446|ATGTTATAGGCAGATTCAAAA|UBE2J2_ENST00000347370.2_FIVE_PRIME_FLANK/UBE2J2_ENST00000348298.7_FIVE_PRIME_FLANK/UBE2J2_ENST00000349431.6_FIVE_PRIME_FLANK/UBE2J2_ENST00000360466.2_FIVE_PRIME_FLANK/SCNN1D_ENST00000379116.5_FIVE_PRIME_FLANK/UBE2J2_ENST00000400929.2_FIVE_PRIME_FLANK/UBE2J2_ENST00000400930.4_FIVE_PRIME_FLANK/UBE2J2_ENST00000491779.1_FIVE_PRIME_FLANK/RP5-902P8.10_ENST00000453732.1_LINCRNA|||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||true|false|0.5695_%2C_0.4305|false|false|1||false|true|false|LOC101928895:101928895|true|true|true|true|true|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|6685064|1211292|false|false|0|true|0|false|0.693592_%2C_0.306408|false|false|false|SNV|true|0x05010008000515053f000100|1|false|116|rs6685064]
@@ -162,22 +162,22 @@ chr1	1222519	exm2129	C	T	.	PASS	FUNCOTATION=[SCNN1D|hg19|chr1|1222519|1222519|NO
 chr1	1227897	rs3737721	A	G	.	PASS	FUNCOTATION=[ACAP3|hg19|chr1|1227897|1227897|THREE_PRIME_UTR||SNP|A|A|G|g.chr1:1227897A>G|ENST00000354700.5|-|24|||||0.655860349127182|CTTCAGGGTCACAGGCAGCAG|ACAP3_ENST00000353662.3_THREE_PRIME_UTR|||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||true|false|0.772_%2C_0.228|false|false|1||false|true|false|SCNN1D:6339_%7C_ACAP3:116983|true|true|true|true|true|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|3737721|1227897|true|false|0|true|0|false|0.918916_%2C_0.0810839|false|true|false|SNV|true|0x05010088000515053f000100|1|false|107|rs3737721]
 chr1	1249193	indel.166	C	CGCAA	.	PASS	FUNCOTATION=[CPSF3L|hg19|chr1|1249193|1249194|FRAME_SHIFT_INS||INS|-|-|GCAA|g.chr1:1249193_1249194insGCAA|ENST00000435064.1|-|9|959|c.875_876insTTGC|c.(874-876)aagfs|p.K292fs|0.6325|CACGAAAGTCTTGCGGATCT|CPSF3L_ENST00000421495.2_FRAME_SHIFT_INS_p.K34fs/CPSF3L_ENST00000450926.2_FRAME_SHIFT_INS_p.K270fs/CPSF3L_ENST00000411962.1_FRAME_SHIFT_INS_p.K194fs/CPSF3L_ENST00000419704.1_FRAME_SHIFT_INS_p.K191fs/CPSF3L_ENST00000540437.1_FRAME_SHIFT_INS_p.K298fs/CPSF3L_ENST00000545578.1_FRAME_SHIFT_INS_p.K263fs/CPSF3L_ENST00000462432.1_INTRON|||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||true|false||false|false|||false|false|false|MIR6727:102465435_%7C_CPSF3L:54973|false|true|false|false|false|false|false|false|false|false|true|false|false|false|false|false|false|false|true|true|752230074|1249193|false|false|0|false|0|false||false|false|false|DIV|false|0x050000021205000402000200|1|false|144|rs752230074]
 chr1	1250794	variant.168	G	A	.	PASS	FUNCOTATION=[CPSF3L|hg19|chr1|1250794|1250794|NONSENSE||SNP|G|G|A|g.chr1:1250794G>A|ENST00000435064.1|-|6|636|c.553C>T|c.(553-555)Cga>Tga|p.R185*|0.6084788029925187|CCTAAGTGTCGGTCTGGGGTC|CPSF3L_ENST00000450926.2_NONSENSE_p.R163*/CPSF3L_ENST00000411962.1_NONSENSE_p.R87*/CPSF3L_ENST00000419704.1_NONSENSE_p.R84*/CPSF3L_ENST00000421495.2_FIVE_PRIME_UTR/CPSF3L_ENST00000540437.1_NONSENSE_p.R191*/CPSF3L_ENST00000545578.1_NONSENSE_p.R156*/CPSF3L_ENST00000462432.1_INTRON|||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||true|false||false|false|||false|false|false|CPSF3L:54973|false|true|false|false|false|false|false|false|false|false|false|true|true|false|false|false|false|false|false|true|373723769|1250794|false|true|0|false|0|false||false|false|false|SNV|true|0x050200000e05040402000100|1|false|138|rs373723769]
-chr1	1254678	exm2656	G	A	.	PASS	FUNCOTATION=[CPSF3L|hg19|chr1|1254678|1254678|NONSENSE||SNP|G|G|A|g.chr1:1254678G>A|ENST00000435064.1|-|4|510|c.427C>T|c.(427-429)Cag>Tag|p.Q143*|0.628428927680798|AACCTGACCTGGACCGTCTGG|CPSF3L_ENST00000450926.2_NONSENSE_p.Q143*/CPSF3L_ENST00000421495.2_INTRON/CPSF3L_ENST00000411962.1_INTRON/CPSF3L_ENST00000419704.1_INTRON/CPSF3L_ENST00000540437.1_NONSENSE_p.Q149*/CPSF3L_ENST00000545578.1_NONSENSE_p.Q114*/CPSF3L_ENST00000462432.1_FIVE_PRIME_FLANK|||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||true|false||false|false|||false|false|false|CPSF3L:54973|false|true|true|false|false|false|false|false|false|false|false|false|true|false|false|false|false|false|true|true|200207309|1254678|false|true|0|false|0|false||false|false|false|SNV|false|0x0502000a0605000402000100|1|false|137|rs200207309]
-chr1	1256453	exm2676	G	A	.	PASS	FUNCOTATION=[CPSF3L|hg19|chr1|1256453|1256453|NONSENSE||SNP|G|G|A|g.chr1:1256453G>A|ENST00000435064.1|-|2|132|c.49C>T|c.(49-51)Cga>Tga|p.R17*|0.6458852867830424|ATGCAGCTTCGGCCCACGTCC|CPSF3L_ENST00000450926.2_NONSENSE_p.R17*/CPSF3L_ENST00000419704.1_NONSENSE_p.R17*/CPSF3L_ENST00000421495.2_INTRON/CPSF3L_ENST00000411962.1_INTRON/CPSF3L_ENST00000540437.1_NONSENSE_p.R23*/CPSF3L_ENST00000545578.1_FIVE_PRIME_UTR/GLTPD1_ENST00000343938.4_FIVE_PRIME_FLANK/CPSF3L_ENST00000462432.1_FIVE_PRIME_FLANK/GLTPD1_ENST00000464957.1_FIVE_PRIME_FLANK|||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||true|false|0.9998_%2C_0.0001997|false|false|0||false|false|false|CPSF3L:54973|false|true|true|true|true|false|false|false|false|false|false|false|true|false|false|false|false|false|false|true|200498230|1256453|false|true|0|false|0|false|0.999897_%2C_0.000103029|false|false|true|SNV|true|0x050200480605040436000100|1|false|137|rs200498230]
+chr1	1254678	exm2656	G	A	.	PASS	FUNCOTATION=[CPSF3L|hg19|chr1|1254678|1254678|NONSENSE||SNP|G|G|A|g.chr1:1254678G>A|ENST00000435064.1|-|4|510|c.427C>T|c.(427-429)Cag>Tag|p.Q143*|0.628428927680798|AACCTGACCTGGACCGTCTGG|CPSF3L_ENST00000450926.2_NONSENSE_p.Q143*/CPSF3L_ENST00000421495.2_INTRON/CPSF3L_ENST00000411962.1_INTRON/CPSF3L_ENST00000419704.1_INTRON/CPSF3L_ENST00000540437.1_NONSENSE_p.Q149*/CPSF3L_ENST00000545578.1_NONSENSE_p.Q114*/CPSF3L_ENST00000462432.1_FIVE_PRIME_FLANK/RP5-890O3.9_ENST00000444968.1_FIVE_PRIME_FLANK|||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||true|false||false|false|||false|false|false|CPSF3L:54973|false|true|true|false|false|false|false|false|false|false|false|false|true|false|false|false|false|false|true|true|200207309|1254678|false|true|0|false|0|false||false|false|false|SNV|false|0x0502000a0605000402000100|1|false|137|rs200207309]
+chr1	1256453	exm2676	G	A	.	PASS	FUNCOTATION=[CPSF3L|hg19|chr1|1256453|1256453|NONSENSE||SNP|G|G|A|g.chr1:1256453G>A|ENST00000435064.1|-|2|132|c.49C>T|c.(49-51)Cga>Tga|p.R17*|0.6458852867830424|ATGCAGCTTCGGCCCACGTCC|CPSF3L_ENST00000450926.2_NONSENSE_p.R17*/CPSF3L_ENST00000419704.1_NONSENSE_p.R17*/CPSF3L_ENST00000421495.2_INTRON/CPSF3L_ENST00000411962.1_INTRON/CPSF3L_ENST00000540437.1_NONSENSE_p.R23*/CPSF3L_ENST00000545578.1_FIVE_PRIME_UTR/GLTPD1_ENST00000343938.4_FIVE_PRIME_FLANK/CPSF3L_ENST00000462432.1_FIVE_PRIME_FLANK/GLTPD1_ENST00000464957.1_FIVE_PRIME_FLANK/RP5-890O3.9_ENST00000444968.1_FIVE_PRIME_FLANK|||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||true|false|0.9998_%2C_0.0001997|false|false|0||false|false|false|CPSF3L:54973|false|true|true|true|true|false|false|false|false|false|false|false|true|false|false|false|false|false|false|true|200498230|1256453|false|true|0|false|0|false|0.999897_%2C_0.000103029|false|false|true|SNV|true|0x050200480605040436000100|1|false|137|rs200498230]
 chr1	1366830	rs873927	A	G	.	PASS	FUNCOTATION=[VWA1|hg19|chr1|1366830|1366830|FIVE_PRIME_FLANK||SNP|A|A|G|g.chr1:1366830A>G|ENST00000338660.5|+||||||0.6633416458852868|CCACTTCAGGACCCTGGGTCC|VWA1_ENST00000404702.3_FIVE_PRIME_FLANK/VWA1_ENST00000476993.1_FIVE_PRIME_FLANK/RP4-758J18.10_ENST00000417917.1_LINCRNA|||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||true|false|0.3157_%2C_0.6843|false|false|1||false|true|false|LOC102724312:102724312|true|true|true|true|true|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|873927|1366830|true|false|0|true|0|false|0.497733_%2C_0.502267|false|false|false|SNV|true|0x050100080005150537000100|1|false|92|rs873927]
 chr1	1550992	exm3957	C	A	.	PASS	FUNCOTATION=[MIB2|hg19|chr1|1550992|1550992|NONSENSE||SNP|C|C|A|g.chr1:1550992C>A|ENST00000505820.2|+|1|170|c.153C>A|c.(151-153)tgC>tgA|p.C51*|0.7630922693266833|TGGCGCGATGCGGGCCGTCCT|MIB2_ENST00000520777.1_NONSENSE_p.C51*/MIB2_ENST00000355826.5_NONSENSE_p.C51*/MIB2_ENST00000518681.1_NONSENSE_p.C51*/MIB2_ENST00000357210.4_FIVE_PRIME_UTR/MIB2_ENST00000360522.4_FIVE_PRIME_UTR/MIB2_ENST00000378710.3_FIVE_PRIME_UTR/MIB2_ENST00000378708.1_FIVE_PRIME_FLANK/MIB2_ENST00000378712.1_FIVE_PRIME_FLANK/MIB2_ENST00000504599.1_FIVE_PRIME_FLANK/RP11-345P4.9_ENST00000607222.1_RNA|||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||true|false||false|false|||false|false|false|MIB2:142678|false|true|false|false|false|false|false|false|false|false|false|false|true|false|false|false|false|false|true|true|199741261|1550992|false|false|0|true|0|false|0.998798_%2C_0.00120201|false|false|false|SNV|true|0x050100020605040402000100|1|false|137|rs199741261]
 chr1	1551927	exm3962	T	C	.	PASS	FUNCOTATION=[MIB2|hg19|chr1|1551927|1551927|MISSENSE||SNP|T|T|C|g.chr1:1551927T>C|ENST00000505820.2|+|2|231|c.214T>C|c.(214-216)Ttc>Ctc|p.F72L|0.6708229426433915|GTCCCAAAGTTTCCAGGCATC|MIB2_ENST00000520777.1_MISSENSE_p.F72L/MIB2_ENST00000355826.5_MISSENSE_p.F72L/MIB2_ENST00000504599.1_FIVE_PRIME_UTR/MIB2_ENST00000518681.1_MISSENSE_p.F72L/MIB2_ENST00000378712.1_FIVE_PRIME_UTR/MIB2_ENST00000357210.4_MISSENSE_p.F15L/MIB2_ENST00000360522.4_MISSENSE_p.F15L/MIB2_ENST00000378710.3_MISSENSE_p.F15L/MIB2_ENST00000378708.1_FIVE_PRIME_FLANK/RP11-345P4.9_ENST00000607222.1_FIVE_PRIME_FLANK|||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||true|false|0.523_%2C_0.477|false|false|1||false|true|true|MIB2:142678|true|true|false|true|true|false|false|false|false|false|false|true|false|false|false|false|false|false|false|true|7418389|1551927|true|false|0|true|0|false|0.374373_%2C_0.625627|false|false|true|SNV|true|0x050100400a0517053e000100|1|false|116|rs7418389]
 chr1	1551952	exm3966	G	A	.	PASS	FUNCOTATION=[MIB2|hg19|chr1|1551952|1551952|MISSENSE||SNP|G|G|A|g.chr1:1551952G>A|ENST00000505820.2|+|2|256|c.239G>A|c.(238-240)aGg>aAg|p.R80K|0.6633416458852868|CTGCAGCCCAGGAGCCTCAAG|MIB2_ENST00000520777.1_MISSENSE_p.R80K/MIB2_ENST00000355826.5_MISSENSE_p.R80K/MIB2_ENST00000504599.1_FIVE_PRIME_UTR/MIB2_ENST00000518681.1_MISSENSE_p.R80K/MIB2_ENST00000378712.1_FIVE_PRIME_UTR/MIB2_ENST00000357210.4_MISSENSE_p.R23K/MIB2_ENST00000360522.4_MISSENSE_p.R23K/MIB2_ENST00000378710.3_MISSENSE_p.R23K/MIB2_ENST00000378708.1_FIVE_PRIME_FLANK/RP11-345P4.9_ENST00000607222.1_FIVE_PRIME_FLANK|||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||true|false|0.9982_%2C_0.001797|false|false|1||false|false|false|MIB2:142678|false|true|false|false|true|false|false|false|false|false|false|true|false|false|false|false|false|false|false|true|199576573|1551952|false|false|0|false|0|false|0.997527_%2C_0.0024727|false|false|true|SNV|true|0x050000400a05040426000100|1|false|137|rs199576573]
 chr1	1558792	exm3973	T	C	.	PASS	FUNCOTATION=[MIB2|hg19|chr1|1558792|1558792|MISSENSE||SNP|T|T|C|g.chr1:1558792T>C|ENST00000505820.2|+|3|322|c.305T>C|c.(304-306)aTg>aCg|p.M102T|0.7281795511221946|CGGCCCACCATGGACCCCTCT|MIB2_ENST00000520777.1_MISSENSE_p.M102T/MIB2_ENST00000504599.1_START_CODON_SNP_p.M1T/MIB2_ENST00000355826.5_INTRON/MIB2_ENST00000378708.1_INTRON/MIB2_ENST00000518681.1_MISSENSE_p.M102T/MIB2_ENST00000378712.1_INTRON/MIB2_ENST00000357210.4_MISSENSE_p.M45T/MIB2_ENST00000360522.4_MISSENSE_p.M45T/MIB2_ENST00000378710.3_MISSENSE_p.M45T/MIB2_ENST00000512004.1_INTRON|||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||true|false|0.2264_%2C_0.7736_%2C_.|false|false|1||false|true|false|MIB2:142678|true|true|true|true|true|false|false|false|false|false|false|true|false|false|false|false|false|false|false|true|12755088|1558792|false|false|0|true|0|false||false|false|false|SNV|true|0x050100080a0515053e000100|1|false|121|rs12755088]
 chr1	1647785	indel.249	CT	C	.	PASS	FUNCOTATION=[CDK11A|hg19|chr1|1647786|1647786|SPLICE_SITE|FRAME_SHIFT_DEL|DEL|T|T|-|g.chr1:1647786delT|ENST00000358779.5|-|5|538|c.457delA|c.(457-459)aggfs|p.R153fs|0.48129675810473815|CCCACTCACCTTTCTCTCCTG|CDK11A_ENST00000356200.3_SPLICE_SITE_p.R129fs/CDK11A_ENST00000378633.1_SPLICE_SITE_p.R153fs/CDK11A_ENST00000404249.3_SPLICE_SITE_p.R163fs/CDK11A_ENST00000357760.2_SPLICE_SITE_p.R153fs/CDK11A_ENST00000378638.2_SPLICE_SITE_p.R129fs/CDK11A_ENST00000378635.3_SPLICE_SITE_p.S153fs/RP1-283E3.8_ENST00000598846.1_SPLICE_SITE|||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||true|false||false|false|||false|false|false|CDK11A:728642|false|true|false|false|false|false|false|false|false|false|true|false|false|false|false|false|false|false|false|true|748188287|1647786|false|false|0|false|0|false||false|false|true|DIV|false|0x050000401205000402000200|1|false|144|rs748188287]
-chr1	2146966	rs7512482	T	C	.	PASS	FUNCOTATION=[C1orf86|hg19|chr1|2146966|2146966|FIVE_PRIME_FLANK||SNP|T|T|C|g.chr1:2146966T>C|ENST00000487186.1|-||||||0.6758104738154613|AGGACCTGCGTGAAGGAGCCC|AL590822.1_ENST00000545087.1_FIVE_PRIME_FLANK/RP11-181G12.4_ENST00000442483.2_LINCRNA|||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||true|false|0.7963_%2C_0.2037|false|false|1||false|true|true||true|true|false|true|true|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|7512482|2146966|false|false|0|true|0|false|0.761969_%2C_0.238031|false|false|false|SNV|true|0x05010000000517053f000100|1|false|116|rs7512482]
+chr1	2146966	rs7512482	T	C	.	PASS	FUNCOTATION=[C1orf86|hg19|chr1|2146966|2146966|FIVE_PRIME_FLANK||SNP|T|T|C|g.chr1:2146966T>C|ENST00000487186.1|-||||||0.6758104738154613|AGGACCTGCGTGAAGGAGCCC|AL590822.1_ENST00000545087.1_FIVE_PRIME_FLANK/RP11-181G12.4_ENST00000442483.2_LINCRNA/RP11-181G12.5_ENST00000420964.1_FIVE_PRIME_FLANK|||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||true|false|0.7963_%2C_0.2037|false|false|1||false|true|true||true|true|false|true|true|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|7512482|2146966|false|false|0|true|0|false|0.761969_%2C_0.238031|false|false|false|SNV|true|0x05010000000517053f000100|1|false|116|rs7512482]
 chr1	2327075	rs3736330	C	T	.	PASS	FUNCOTATION=[RER1|hg19|chr1|2327075|2327075|FIVE_PRIME_UTR||SNP|C|C|T|g.chr1:2327075C>T|ENST00000488353.1|+|1|||||0.5211970074812967|TACTTTTTCCCGAACAATTCA|RER1_ENST00000605895.1_INTRON/RER1_ENST00000378512.1_INTRON/RER1_ENST00000378518.1_INTRON/RER1_ENST00000378513.3_INTRON/MORN1_ENST00000378529.3_FIVE_PRIME_FLANK/MORN1_ENST00000378531.3_FIVE_PRIME_FLANK/MORN1_ENST00000606372.1_FIVE_PRIME_FLANK|||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||true|false|0.7638_%2C_0.2362|false|false|1||false|true|false|RER1:11079|true|true|true|true|true|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|3736330|2327075|false|false|0|true|0|false|0.789718_%2C_0.210282|false|false|false|SNV|true|0x050100080005150537000100|1|false|107|rs3736330]
 chr1	2408058	exm5658	C	T	.	PASS	FUNCOTATION=[PLCH2|hg19|chr1|2408058|2408058|MISSENSE||SNP|C|C|T|g.chr1:2408058C>T|ENST00000419816.2|+|1|305|c.31C>T|c.(31-33)Cgg>Tgg|p.R11W|0.6907730673316709|CCCCGACAGCCGGACCAAGGG|PLCH2_ENST00000449969.1_INTRON/PLCH2_ENST00000378486.3_MISSENSE_p.R11W/PLCH2_ENST00000378488.3_MISSENSE_p.R11W/PLCH2_ENST00000288766.5_FIVE_PRIME_UTR|||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||true|false||false|false|||false|false|false|PLCH2:9651|false|true|true|false|false|false|false|false|false|false|false|true|false|false|false|false|false|false|false|true|199848920|2408058|false|false|0|false|0|false||false|false|true|SNV|true|0x050000480a05040402000100|1|false|137|rs199848920]
 chr1	2450733	indel.338	AG	A	.	PASS	FUNCOTATION=[PANK4|hg19|chr1|2450734|2450734|FRAME_SHIFT_DEL||DEL|G|G|-|g.chr1:2450734delG|ENST00000378466.3|-|7|897|c.883delC|c.(883-885)ctgfs|p.L295fs|0.6059850374064838|ATGTGCAGCAGGCTCTTCGCC|PANK4_ENST00000435556.3_FRAME_SHIFT_DEL_p.L256fs|||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||true|false||false|false|||false|false|false|PANK4:55229|false|true|false|false|false|false|false|false|false|false|true|false|false|false|false|false|false|false|false|true|764053138|2450734|false|false|0|false|0|false||false|false|false|DIV|false|0x050000001205000402000200|1|false|144|rs764053138]
 chr1	2564465	kgp10938344	T	C	.	PASS	FUNCOTATION=[MMEL1|hg19|chr1|2564465|2564465|FIVE_PRIME_UTR||SNP|T|T|C|g.chr1:2564465T>C|ENST00000288709.6|-|1|||||0.6458852867830424|TGAAGGCTTCTGGGCCTCCTT|MMEL1_ENST00000378412.3_FIVE_PRIME_FLANK/MMEL1_ENST00000502556.1_FIVE_PRIME_FLANK/MMEL1_ENST00000511099.1_FIVE_PRIME_FLANK/RP13-436F16.1_ENST00000427302.1_RNA|||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||true|false|0.4824_%2C_0.5176|false|false|1||false|true|true|MMEL1:79258|true|true|false|true|true|false|false|false|false|false|false|true|false|false|false|false|false|false|false|true|12752515|2564465|false|false|0|true|0|false|0.403943_%2C_0.596057|false|false|true|SNV|true|0x050100400a0517053e000100|1|false|121|rs12752515]
 chr1	3542385	indel.400	GA	G	.	PASS	FUNCOTATION=[TPRG1L|hg19|chr1|3542386|3542386|FRAME_SHIFT_DEL||DEL|A|A|-|g.chr1:3542386delA|ENST00000378344.2|+|3|473|c.403delA|c.(403-405)atafs|p.I135fs|0.5486284289276808|GGTGGTGCGGATAGCGCTCAA|TPRG1L_ENST00000344579.5_INTRON/RP11-46F15.2_ENST00000435049.1_FIVE_PRIME_FLANK|||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||true|false||false|false|||false|false|false|TPRG1L:127262|false|true|true|false|false|false|false|false|false|false|true|false|false|false|false|false|false|false|false|true|749859577|3542386|false|false|0|false|0|false||false|false|false|DIV|false|0x050000081205000402000200|1|false|144|rs749859577]
 chr1	3789041	indel.451	CT	C	.	PASS	FUNCOTATION=[DFFB|hg19|chr1|3789042|3789042|FRAME_SHIFT_DEL||DEL|T|T|-|g.chr1:3789042delT|ENST00000378209.3|+|6|1010|c.688delT|c.(688-690)tttfs|p.F230fs|0.5885286783042394|CCAGGGTCCCTTTGACATGGA|DFFB_ENST00000338895.3_FRAME_SHIFT_DEL_p.F230fs|||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||true|false||false|false|||false|false|false|DFFB:1677|false|true|false|false|false|false|false|false|false|false|true|false|false|false|false|false|false|false|false|true|755710345|3789042|false|false|0|false|0|false||false|false|false|DIV|true|0x050000001205040402000200|1|false|144|rs755710345]
-chr1	3800158	indel.452	TG	T	.	PASS	FUNCOTATION=[DFFB|hg19|chr1|3800159|3800159|FRAME_SHIFT_DEL||DEL|G|G|-|g.chr1:3800159delG|ENST00000378209.3|+|7|1193|c.871delG|c.(871-873)ggcfs|p.G291fs|0.46384039900249374|GTATTTTTATGGCCTGCTTTT||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||true|false||false|false|||false|false|false|DFFB:1677|false|false|false|false|false|false|false|false|false|false|true|false|false|false|false|false|false|false|false|true|777060714|3800159|false|false|0|false|0|false||false|false|false|DIV|false|0x050000001205000002000200|1|false|144|rs777060714]
+chr1	3800158	indel.452	TG	T	.	PASS	FUNCOTATION=[DFFB|hg19|chr1|3800159|3800159|FRAME_SHIFT_DEL||DEL|G|G|-|g.chr1:3800159delG|ENST00000378209.3|+|7|1193|c.871delG|c.(871-873)ggcfs|p.G291fs|0.46384039900249374|GTATTTTTATGGCCTGCTTTT|AL691523.1_ENST00000579705.1_FIVE_PRIME_FLANK|||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||true|false||false|false|||false|false|false|DFFB:1677|false|false|false|false|false|false|false|false|false|false|true|false|false|false|false|false|false|false|false|true|777060714|3800159|false|false|0|false|0|false||false|false|false|DIV|false|0x050000001205000002000200|1|false|144|rs777060714]
 chr1	3821782	rs11589102	G	A	.	PASS	FUNCOTATION=[C1orf174|hg19|chr1|3821782|3821782|FIVE_PRIME_FLANK||SNP|G|G|A|g.chr1:3821782G>A|ENST00000361605.3|-||||||0.4688279301745636|CTAAACTAATGTTTTCTTAAT|C1orf174_ENST00000486765.1_FIVE_PRIME_FLANK/RP13-15E13.1_ENST00000442673.1_LINCRNA|||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||true|false|0.8093_%2C_0.1907|false|false|1||false|true|true|LINC01134:100133612|true|true|true|true|true|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|11589102|3821782|false|false|0|true|0|false|0.748643_%2C_0.251357|false|false|false|SNV|true|0x05010008000517053f000101|1|false|120|rs11589102]
 chr1	3822703	rs10909830	C	T	.	PASS	FUNCOTATION=[RP13-15E13.1|hg19|chr1|3822703|3822703|LINCRNA||SNP|C|C|T|g.chr1:3822703C>T|ENST00000442673.1|+|||c.e1+5508C>T|||0.5012468827930174|TTTTCACCGACGCAGGCCCGG||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||true|false|0.7055_%2C_0.2945|false|false|1||false|true|true|LINC01134:100133612|true|true|true|true|true|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|10909830|3822703|false|false|0|true|0|false|0.663061_%2C_0.336939|false|false|false|SNV|true|0x05010008000517053f000100|1|false|120|rs10909830]
 chr1	3823395	kgp9113347	C	T	.	PASS	FUNCOTATION=[RP13-15E13.1|hg19|chr1|3823395|3823395|LINCRNA||SNP|C|C|T|g.chr1:3823395C>T|ENST00000442673.1|+|||c.e1+6200C>T|||0.5411471321695761|TGCAGATCCACGTCTGCCTCC||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||true|false|0.8087_%2C_0.1913|false|false|1||false|true|true|LINC01134:100133612|true|true|true|true|true|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|28973022|3823395|false|false|0|true|0|false|0.748918_%2C_0.251082|false|false|false|SNV|true|0x05010008000517053f000100|1|false|125|rs28973022]
@@ -188,14 +188,14 @@ chr1	6556585	exm9669	G	A	.	PASS	FUNCOTATION=[PLEKHG5|hg19|chr1|6556585|6556585|M
 chr1	6635345	indel.549	TC	T	.	PASS	FUNCOTATION=[TAS1R1|hg19|chr1|6635346|6635346|FRAME_SHIFT_DEL||DEL|C|C|-|g.chr1:6635346delC|ENST00000333172.6|+|3|1346|c.1154delC|c.(1153-1155)tctfs|p.S385fs|0.600997506234414|TCCATGAGTTCTGCCTACAAC|TAS1R1_ENST00000351136.3_INTRON/TAS1R1_ENST00000328191.4_FRAME_SHIFT_DEL_p.S385fs/ZBTB48_ENST00000377674.4_FIVE_PRIME_FLANK|||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||true|false||false|false|||false|false|false|TAS1R1:80835|false|true|true|false|false|false|false|false|false|false|true|false|false|false|false|false|false|false|false|true|867182312|6635346|false|false|0|false|0|false||false|false|false|DIV|false|0x050000081205000402000200|1|false|147|rs867182312]
 chr1	7897138	indel.606	CA	C	.	PASS	FUNCOTATION=[PER3|hg19|chr1|7897139|7897139|FRAME_SHIFT_DEL||DEL|A|A|-|g.chr1:7897139delA|ENST00000377532.3|+|20|3702|c.3479delA|c.(3478-3480)caafs|p.K1161fs|0.3940149625935162|TCTCATGGGCAAAAGGAGGAG|PER3_ENST00000361923.2_FRAME_SHIFT_DEL_p.K1152fs|||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||true|false||false|false|||false|false|false|PER3:8863|false|true|false|false|false|false|false|false|false|false|true|false|false|false|false|false|false|false|false|true|773961726|7897139|false|false|0|false|0|false||false|false|false|DIV|false|0x050000001205000402000200|1|false|144|rs773961726]
 chr1	7913430	rs228648	G	A	.	PASS	FUNCOTATION=[UTS2|hg19|chr1|7913430|7913430|DE_NOVO_START_IN_FRAME||SNP|G|G|A|g.chr1:7913430G>A|ENST00000377516.2|-|1|||||0.3566084788029925|GCAAAGAGACGTGGATTTATG|UTS2_ENST00000054668.5_MISSENSE_p.T21M/UTS2_ENST00000361696.5_FIVE_PRIME_FLANK|||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||true|false|0.5216_%2C_0.4784|false|false|1||false|true|true|UTS2:10911|true|true|false|true|true|false|false|false|false|false|false|true|false|false|false|true|true|false|true|true|228648|7913430|false|false|0|true|0|false|0.476578_%2C_0.523422|false|false|false|SNV|true|0x050128020a0517053f000101|1|false|79|rs228648]
-chr1	8045014	indel.625	GGCC	G	.	PASS	FUNCOTATION=[PARK7|hg19|chr1|8045015|8045017|IN_FRAME_DEL||DEL|GCC|GCC|-|g.chr1:8045015_8045017delGCC|ENST00000493678.1|+|7|537_539|c.471_473delGCC|c.(469-474)gggcct>ggt|p.P158del|0.4466501240694789|CAAGCCGGGGGCCTGGGACCAGC|PARK7_ENST00000377491.1_IN_FRAME_DEL_p.P158del/PARK7_ENST00000338639.5_IN_FRAME_DEL_p.P158del/PARK7_ENST00000377488.1_IN_FRAME_DEL_p.P158del/PARK7_ENST00000377493.5_IN_FRAME_DEL_p.P138del|||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||true|false||false|false|||false|false|false|PARK7:11315|false|true|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|764877312|8045015|false|false|0|false|0|false||false|false|false|DIV|true|0x050000000005040402000200|1|false|144|rs764877312]
+chr1	8045014	indel.625	GGCC	G	.	PASS	FUNCOTATION=[PARK7|hg19|chr1|8045015|8045017|IN_FRAME_DEL||DEL|GCC|GCC|-|g.chr1:8045015_8045017delGCC|ENST00000493678.1|+|7|537_539|c.471_473delGCC|c.(469-474)gggcct>ggt|p.P158del|0.4466501240694789|CAAGCCGGGGGCCTGGGACCAGC|PARK7_ENST00000377491.1_IN_FRAME_DEL_p.P158del/PARK7_ENST00000338639.5_IN_FRAME_DEL_p.P158del/PARK7_ENST00000377488.1_IN_FRAME_DEL_p.P158del/PARK7_ENST00000377493.5_IN_FRAME_DEL_p.P138del/Y_RNA_ENST00000363474.1_FIVE_PRIME_FLANK|||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||true|false||false|false|||false|false|false|PARK7:11315|false|true|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|764877312|8045015|false|false|0|false|0|false||false|false|false|DIV|true|0x050000000005040402000200|1|false|144|rs764877312]
 chr1	9994822	indel.687	CT	C	.	PASS	FUNCOTATION=[LZIC|hg19|chr1|9994823|9994823|FRAME_SHIFT_DEL||DEL|T|T|-|g.chr1:9994823delT|ENST00000377223.1|-|5|582|c.333delA|c.(331-333)gcafs|p.E112fs|0.3516209476309227|ATTTTACCTCTGCTAACCTTG|LZIC_ENST00000377213.1_FRAME_SHIFT_DEL_p.E112fs/LZIC_ENST00000400903.2_FRAME_SHIFT_DEL_p.E112fs/LZIC_ENST00000541052.1_FRAME_SHIFT_DEL_p.E133fs|||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||true|false||false|false|||false|false|false|LZIC:84328|false|true|false|false|false|false|false|false|false|false|true|false|false|false|false|false|false|false|false|true|866608629|9994823|false|false|0|false|0|false||false|false|false|DIV|false|0x050000001205000402000200|1|false|147|rs866608629]
 chr1	10478954	indel.710	TC	T	.	PASS	FUNCOTATION=[PGD|hg19|chr1|10478955|10478955|FRAME_SHIFT_DEL||DEL|C|C|-|g.chr1:10478955delC|ENST00000270776.8|+|11|1219|c.1182delC|c.(1180-1182)ttcfs|p.F395fs|0.46384039900249374|TGGACGACTTCTTTAAGTCAG|PGD_ENST00000538557.1_FRAME_SHIFT_DEL_p.F382fs/PGD_ENST00000541529.1_FRAME_SHIFT_DEL_p.F373fs/PGD_ENST00000498356.1_INTRON|||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||true|false||false|false|||false|false|false|PGD:5226|false|true|false|false|false|false|false|false|false|false|true|false|false|false|false|false|false|false|false|true|767877628|10478955|false|false|0|false|0|false||false|false|false|DIV|false|0x050000001205000402000200|1|false|144|rs767877628]
 chr1	11906068	exm15531	A	G	.	PASS	FUNCOTATION=[NPPA|hg19|chr1|11906068|11906068|NONSTOP||SNP|A|A|G|g.chr1:11906068A>G|ENST00000376480.3|-|3|553|c.454T>C|c.(454-456)Tga>Cga|p.*152R|0.4937655860349127|TGTTATCTTCAGTACTGCAAA|NPPA_ENST00000376476.1_NONSTOP_p.*102R/NPPA-AS1_ENST00000446542.1_RNA/NPPA-AS1_ENST00000400892.2_RNA|||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||true|false|0.8209_%2C_0.1791|false|false|1||false|true|false|NPPA:4878_%7C_NPPA-AS1:100379251|true|true|true|true|true|false|false|false|false|false|false|false|false|false|false|true|true|false|false|true|5065|11906068|false|false|0|true|0|false|0.737688_%2C_0.262312|true|false|false|SNV|true|0x05013808020515053f000100|1|false|52|rs5065]
 chr1	12069756	indel.888	CACTT	C	.	PASS	FUNCOTATION=[MFN2|hg19|chr1|12069757|12069760|FRAME_SHIFT_DEL||DEL|ACTT|ACTT|-|g.chr1:12069757_12069760delACTT|ENST00000235329.5|+|18|2499_2502|c.2178_2181delACTT|c.(2176-2181)tcacttfs|p.L727fs|0.5693069306930693|TTCTTGACTCACTTCAGAGCAAAG|MFN2_ENST00000444836.1_FRAME_SHIFT_DEL_p.L727fs|||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||true|false||false|false|||false|false|false|MFN2:9927|false|true|false|false|false|false|false|false|false|false|true|false|false|false|false|false|false|false|false|true|772270096|12069757|false|false|0|false|0|false||false|false|false|DIV|false|0x050000001205000402000200|1|false|144|rs772270096]
 chr1	12776344	exm16961	A	T	.	PASS	FUNCOTATION=[AADACL3|hg19|chr1|12776344|12776344|FIVE_PRIME_UTR||SNP|A|A|T|g.chr1:12776344A>T|ENST00000359318.5|+|1|||||0.5311720698254364|TGCTGTTGACATGGGTGAGTT|AADACL3_ENST00000332530.3_START_CODON_SNP_p.M1L|||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||true|false|0.3435_%2C_0.6565|false|false|1||false|true|true|AADACL3:126767|true|true|false|true|true|false|false|false|false|false|false|true|false|false|false|false|false|false|false|true|3000859|12776344|true|true|0|true|0|true||false|false|false|SNV|true|0x050300000b0517053f000100|1|false|101|rs3000859]
 chr1	13933727	exm18587	A	G	.	PASS	FUNCOTATION=[PDPN|hg19|chr1|13933727|13933727|MISSENSE||SNP|A|A|G|g.chr1:13933727A>G|ENST00000509009.1|+|2|156|c.112A>G|c.(112-114)Atg>Gtg|p.M38V|0.42144638403990026|CGGCGTTGCCATGCCAGGTGC|PDPN_ENST00000294489.6_MISSENSE_p.M119V/PDPN_ENST00000376057.4_MISSENSE_p.M119V/PDPN_ENST00000376061.4_START_CODON_SNP_p.M1V/PDPN_ENST00000513143.1_START_CODON_SNP_p.M1V/PDPN_ENST00000475043.1_START_CODON_SNP_p.M1V/PDPN_ENST00000487038.1_START_CODON_SNP_p.M1V|||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||true|false|0.9954_%2C_0.004593|false|false|1||false|false|false|PDPN:10630|false|true|false|true|true|false|false|false|false|false|false|true|false|false|false|false|false|false|false|true|141726617|13933727|false|false|0|false|0|false|0.990487_%2C_0.00951302|false|false|false|SNV|true|0x050000000a05040436000100|1|false|134|rs141726617]
-chr1	15671649	exm19151	T	C	.	PASS	FUNCOTATION=[FHAD1|hg19|chr1|15671649|15671649|MISSENSE||SNP|T|T|C|g.chr1:15671649T>C|ENST00000375998.4|+|15|2135|c.2135T>C|c.(2134-2136)aTg>aCg|p.M712T|0.571072319201995|CGGAAGAGAATGCAAGAACTG|FHAD1_ENST00000358897.4_MISSENSE_p.M712T/FHAD1_ENST00000417793.1_MISSENSE_p.M712T/FHAD1_ENST00000375999.3_MISSENSE_p.M712T/FHAD1_ENST00000314740.8_START_CODON_SNP_p.M1T/FHAD1_ENST00000471347.1_INTRON|||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||true|false||false|false|||false|false|false|FHAD1:114827_%7C_LOC101927417:101927417|false|true|false|false|false|false|false|false|false|false|false|true|false|false|false|false|false|false|true|true|200826682|15671649|false|false|0|false|0|false|0.999554_%2C_0.000446459|false|false|false|SNV|true|0x050000020a05040402000100|1|false|137|rs200826682]
+chr1	15671649	exm19151	T	C	.	PASS	FUNCOTATION=[FHAD1|hg19|chr1|15671649|15671649|MISSENSE||SNP|T|T|C|g.chr1:15671649T>C|ENST00000375998.4|+|15|2135|c.2135T>C|c.(2134-2136)aTg>aCg|p.M712T|0.571072319201995|CGGAAGAGAATGCAAGAACTG|FHAD1_ENST00000358897.4_MISSENSE_p.M712T/FHAD1_ENST00000417793.1_MISSENSE_p.M712T/FHAD1_ENST00000375999.3_MISSENSE_p.M712T/FHAD1_ENST00000314740.8_START_CODON_SNP_p.M1T/FHAD1_ENST00000471347.1_INTRON/RP3-467K16.2_ENST00000428747.1_FIVE_PRIME_FLANK|||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||true|false||false|false|||false|false|false|FHAD1:114827_%7C_LOC101927417:101927417|false|true|false|false|false|false|false|false|false|false|false|true|false|false|false|false|false|false|true|true|200826682|15671649|false|false|0|false|0|false|0.999554_%2C_0.000446459|false|false|false|SNV|true|0x050000020a05040402000100|1|false|137|rs200826682]
 chr1	17634718	exm23564	A	G	.	PASS	FUNCOTATION=[PADI4|hg19|chr1|17634718|17634718|START_CODON_SNP||SNP|A|A|G|g.chr1:17634718A>G|ENST00000375448.4|+|1|27|c.1A>G|c.(1-3)Atg>Gtg|p.M1V|0.6134663341645885|TAGCCCGACGATGGCCCAGGG|PADI4_ENST00000375453.1_START_CODON_SNP_p.M1V|||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||true|false|0.9998_%2C_0.0001997|false|false|0||false|false|false|PADI4:23569|false|true|false|false|true|false|false|false|false|false|false|true|false|false|false|false|false|false|false|true|141280036|17634718|false|true|0|false|0|false|0.999176_%2C_0.000824232|false|false|false|SNV|true|0x050200000a05040426000100|1|false|134|rs141280036]
 chr1	17942591	exm23940	G	A	.	PASS	FUNCOTATION=[ARHGEF10L|hg19|chr1|17942591|17942591|MISSENSE||SNP|G|G|A|g.chr1:17942591G>A|ENST00000375415.1|+|7|655|c.612G>A|c.(610-612)atG>atA|p.M204I|0.6359102244389028|TTGCTCAGATGACCCAGCTCA|ARHGEF10L_ENST00000361221.3_MISSENSE_p.M243I/ARHGEF10L_ENST00000452522.1_MISSENSE_p.M204I/ARHGEF10L_ENST00000434513.1_MISSENSE_p.M243I/ARHGEF10L_ENST00000375420.3_START_CODON_SNP_p.M1I/ARHGEF10L_ENST00000167825.4_FIVE_PRIME_FLANK/ARHGEF10L_ENST00000375408.3_FIVE_PRIME_FLANK/ARHGEF10L_ENST00000469726.1_INTRON|||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||true|false|0.9998_%2C_0.0001997|false|false|0||false|false|false|ARHGEF10L:55160|false|true|false|false|true|false|false|false|false|false|false|true|false|false|false|false|false|false|false|true|201155898|17942591|false|false|0|false|0|false|0.999863_%2C_0.000137372|false|false|false|SNV|true|0x050000000a05040426000100|1|false|137|rs201155898]
 chr1	21800057	indel.1508	G	GC	.	PASS	FUNCOTATION=[NBPF3|hg19|chr1|21800057|21800058|FRAME_SHIFT_INS||INS|-|-|C|g.chr1:21800057_21800058insC|ENST00000318220.6|+|10|1799|c.751_752insC|c.(751-753)gatfs|p.D251fs|0.4525|GAATGGTTGGATGCTGTATG|NBPF3_ENST00000342104.5_FRAME_SHIFT_INS_p.D307fs/NBPF3_ENST00000318249.5_FRAME_SHIFT_INS_p.D307fs/NBPF3_ENST00000454000.2_FRAME_SHIFT_INS_p.D237fs|||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||true|false||false|false|||false|false|false|NBPF3:84224|false|true|false|false|false|false|false|false|false|false|true|false|false|false|false|false|false|false|false|true|747645859|21800057|false|false|0|false|0|false||false|false|false|DIV|true|0x050000001205040402000200|1|false|144|rs747645859]
@@ -209,7 +209,7 @@ chr1	24687425	indel.1723	T	TA	.	PASS	FUNCOTATION=[STPG1|hg19|chr1|24687425|24687
 chr1	31791962	exm39079	A	G	.	PASS	FUNCOTATION=[ZCCHC17|hg19|chr1|31791962|31791962|MISSENSE||SNP|A|A|G|g.chr1:31791962A>G|ENST00000373714.1|+|3|334|c.73A>G|c.(73-75)Atg>Gtg|p.M25V|0.3690773067331671|ATAGGTTGCTATGGTGACAGA|ZCCHC17_ENST00000344147.5_MISSENSE_p.M25V/ZCCHC17_ENST00000546109.1_MISSENSE_p.M17V/ZCCHC17_ENST00000422613.2_START_CODON_SNP_p.M1V/ZCCHC17_ENST00000479629.1_INTRON|||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||true|false|0.9992_%2C_0.0007987|false|false|1||false|false|false|ZCCHC17:51538|false|true|false|true|true|false|false|false|false|false|false|true|false|false|false|false|false|false|false|true|149257512|31791962|false|true|0|false|0|false|0.998729_%2C_0.00127069|false|false|true|SNV|true|0x050200400a05040436000100|1|false|134|rs149257512]
 chr1	32620194	exm40264	A	G	.	PASS	FUNCOTATION=[KPNA6|hg19|chr1|32620194|32620194|MISSENSE||SNP|A|A|G|g.chr1:32620194A>G|ENST00000373625.3|+|2|103|c.10A>G|c.(10-12)Atg>Gtg|p.M4V|0.4688279301745636|TCTAGAGACCATGGCGAGCCC|KPNA6_ENST00000537234.1_START_CODON_SNP_p.M1V/KPNA6_ENST00000545542.1_MISSENSE_p.M9V/KPNA6_ENST00000469790.1_INTRON|||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||true|false||false|false|||false|false|false|KPNA6:23633|false|true|false|false|false|false|false|false|false|false|false|true|false|false|false|false|false|false|false|true|147022148|32620194|false|false|0|false|0|false|0.999966_%2C_3.4343e-005|false|false|false|SNV|true|0x050000000a05040402000100|1|false|134|rs147022148]
 chr1	36558985	exm44727	T	G	.	PASS	FUNCOTATION=[ADPRHL2|hg19|chr1|36558985|36558985|NONSTOP||SNP|T|T|G|g.chr1:36558985T>G|ENST00000373178.4|+|6|1120|c.1090T>G|c.(1090-1092)Tga>Gga|p.*364G|0.571072319201995|CCAGAAGAGTTGATGAGGGCT||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||true|false|0.9998_%2C_0.0001997|false|false|0||false|false|false|ADPRHL2:54936|false|true|false|true|true|false|false|false|false|false|false|false|false|false|false|false|false|false|false|true|183554661|36558985|false|false|0|false|0|false|0.999966_%2C_3.4343e-005|false|false|false|SNV|true|0x050000000205040436000100|1|false|135|rs183554661]
-chr1	43232984	exm51112	T	C	.	PASS	FUNCOTATION=[C1orf50|hg19|chr1|43232984|43232984|START_CODON_SNP||SNP|T|T|C|g.chr1:43232984T>C|ENST00000372525.5|+|1|45|c.2T>C|c.(1-3)aTg>aCg|p.M1T|0.6957605985037406|GGCGCTGTCATGGAGGACGCC|C1orf50_ENST00000536543.1_THREE_PRIME_UTR/C1orf50_ENST00000468913.2_FIVE_PRIME_FLANK|||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||true|false|0.9996_%2C_._%2C_0.0003994|false|false|0||false|false|false|P3H1:64175_%7C_C1orf50:79078|false|true|false|true|true|false|false|false|false|false|false|true|false|false|false|false|false|false|true|true|200116115|43232984|false|false|0|false|0|false|0.999622_%2C_0.000171715_%2C_0.000206058|false|false|false|SNV|true|0x050000020a05040436000100|1|false|137|rs200116115]
+chr1	43232984	exm51112	T	C	.	PASS	FUNCOTATION=[C1orf50|hg19|chr1|43232984|43232984|START_CODON_SNP||SNP|T|T|C|g.chr1:43232984T>C|ENST00000372525.5|+|1|45|c.2T>C|c.(1-3)aTg>aCg|p.M1T|0.6957605985037406|GGCGCTGTCATGGAGGACGCC|C1orf50_ENST00000536543.1_THREE_PRIME_UTR/LEPRE1_ENST00000236040.4_FIVE_PRIME_FLANK/LEPRE1_ENST00000296388.5_FIVE_PRIME_FLANK/LEPRE1_ENST00000397054.3_FIVE_PRIME_FLANK/C1orf50_ENST00000468913.2_FIVE_PRIME_FLANK|||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||true|false|0.9996_%2C_._%2C_0.0003994|false|false|0||false|false|false|P3H1:64175_%7C_C1orf50:79078|false|true|false|true|true|false|false|false|false|false|false|true|false|false|false|false|false|false|true|true|200116115|43232984|false|false|0|false|0|false|0.999622_%2C_0.000171715_%2C_0.000206058|false|false|false|SNV|true|0x050000020a05040436000100|1|false|137|rs200116115]
 chr1	45974886	exm55303	G	C	.	PASS	FUNCOTATION=[MMACHC|hg19|chr1|45974886|45974886|NONSTOP||SNP|G|G|C|g.chr1:45974886G>C|ENST00000401061.4|+|4|1128|c.848G>C|c.(847-849)tGa>tCa|p.*283S|0.5112219451371571|CCTGGCCCTTGATTTTCTCCC|MMACHC_ENST00000477188.1_FIVE_PRIME_FLANK|||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||true|false||false|false|||false|false|false|MMACHC:25974|false|true|false|true|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|true|201025783|45974886|false|false|0|false|0|false|0.999244_%2C_0.000240401_%2C_0.000515145|false|false|false|SNV|true|0x050000000205040416000100|1|false|137|rs201025783]
 chr1	47013404	exm56794	A	G	.	PASS	FUNCOTATION=[KNCN|hg19|chr1|47013404|47013404|NONSTOP||SNP|A|A|G|g.chr1:47013404A>G|ENST00000396314.3|-|3|304|c.304T>C|c.(304-306)Tga>Cga|p.*102R|0.6508728179551122|ACTTTGCCTCAGCATTCCTCA|KNCN_ENST00000481882.2_NONSTOP_p.*125R/MKNK1-AS1_ENST00000602433.1_RNA/KNCN_ENST00000524908.1_INTRON|||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||true|false|0.9964_%2C_0.003594|false|false|1||false|false|false|MKNK1-AS1:100507423_%7C_KNCN:148930|false|true|true|false|true|false|false|false|false|false|false|false|false|false|false|false|false|false|false|true|140455646|47013404|false|false|0|false|0|false|0.993337_%2C_0.00666255|false|false|false|SNV|true|0x050000080205040426000100|1|false|134|rs140455646]
 chr1	47075329	exm56885	A	G	.	PASS	FUNCOTATION=[MOB3C|hg19|chr1|47075329|47075329|NONSTOP||SNP|A|A|G|g.chr1:47075329A>G|ENST00000371940.1|-|3|3793|c.718T>C|c.(718-720)Tga>Cga|p.*240R|0.543640897755611|ACCTGGGCTCAGTGGCAGATC|MOB3C_ENST00000271139.8_NONSTOP_p.*269R/MOB3C_ENST00000319928.3_NONSTOP_p.*217R/MKNK1_ENST00000545730.1_INTRON|||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||true|false||false|false|||false|false|false|MOB3C:148932|false|true|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|true|149444077|47075329|false|false|0|true|0|false|0.999931_%2C_6.8686e-005|false|false|false|SNV|true|0x050100000205040402000100|1|false|134|rs149444077]
@@ -217,7 +217,7 @@ chr1	55207184	var_1_55207184	T	TAG	.	PASS	FUNCOTATION=[TTC4|hg19|chr1|55207184|5
 chr1	55307347	exm62368	T	G	.	PASS	FUNCOTATION=[C1orf177|hg19|chr1|55307347|55307347|INTRON||SNP|T|T|G|g.chr1:55307347T>G|ENST00000371273.3|+|||c.e10-127T>G|||0.4339152119700748|CTCACCAATGTAGGATCTCCT|C1orf177_ENST00000358193.3_NONSTOP_p.*415E|||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||true|false|0.9998_%2C_0.0001997|false|false|0||false|false|false|LEXM:163747|false|true|true|true|true|false|false|false|false|false|false|false|false|false|false|false|false|false|false|true|147344078|55307347|false|false|0|false|0|false|0.999451_%2C_0.000549488|false|false|false|SNV|true|0x050000080205040436000100|1|false|134|rs147344078]
 chr1	60228254	exm1845312	T	C	.	PASS	FUNCOTATION=[FGGY|hg19|chr1|60228254|60228254|NONSTOP||SNP|T|T|C|g.chr1:60228254T>C|ENST00000371218.4|+|17|1910|c.1726T>C|c.(1726-1728)Tga>Cga|p.*576R|0.3765586034912718|GAATGATGACTGAACAGGGCT|FGGY_ENST00000371212.1_NONSTOP_p.*464R/FGGY_ENST00000303721.7_NONSTOP_p.*552R/FGGY_ENST00000371210.1_NONSTOP_p.*253R/RP4-782L23.2_ENST00000443012.1_RNA|||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||true|false|0.9996_%2C_0.0003994_%2C_.|false|false|0||false|false|false|FGGY:55277|false|true|false|true|true|false|false|false|false|false|false|false|false|false|false|false|false|false|false|true|201875327|60228254|false|false|0|false|0|false|0.999897_%2C_._%2C_0.000103029|false|false|false|SNV|true|0x050000000205040436000100|1|false|137|rs201875327]
 chr1	67160814	rs1325267	C	T	.	PASS	FUNCOTATION=[SGIP1|hg19|chr1|67160814|67160814|INTRON||SNP|C|C|T|g.chr1:67160814C>T|ENST00000237247.6|+|||c.e20-303C>T|||0.4014962593516209|AATATGCTGACGCCCCTGCAT|SGIP1_ENST00000371037.4_INTRON/SGIP1_ENST00000371039.1_INTRON/SGIP1_ENST00000435165.2_DE_NOVO_START_IN_FRAME/SGIP1_ENST00000371036.3_INTRON/SGIP1_ENST00000371035.3_INTRON|||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||true|false|0.7632_%2C_0.2368|false|false|1||false|true|true|SGIP1:84251|true|true|true|true|true|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|1325267|67160814|false|false|0|true|0|false|0.864585_%2C_0.135415|false|false|false|SNV|true|0x05010008000517053f000100|1|false|88|rs1325267]
-chr1	67288063	indel.4057	G	GCT	.	PASS	FUNCOTATION=[WDR78|hg19|chr1|67288063|67288064|FRAME_SHIFT_INS||INS|-|-|CT|g.chr1:67288063_67288064insCT|ENST00000371026.3|-|16|2533|c.2476_2477insAG|c.(2476-2478)actfs|p.T826fs|0.3275|TCCAAAACAGTAGGCATATT|WDR78_ENST00000431318.1_FRAME_SHIFT_INS_p.T539fs|||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||true|false||false|false|||false|false|false|WDR78:79819|false|true|false|false|false|false|false|false|false|false|true|false|false|false|false|false|false|false|false|true|754415129|67288063|false|false|0|false|0|false||false|false|false|DIV|false|0x050000001205000402000200|1|false|144|rs754415129]
+chr1	67288063	indel.4057	G	GCT	.	PASS	FUNCOTATION=[WDR78|hg19|chr1|67288063|67288064|FRAME_SHIFT_INS||INS|-|-|CT|g.chr1:67288063_67288064insCT|ENST00000371026.3|-|16|2533|c.2476_2477insAG|c.(2476-2478)actfs|p.T826fs|0.3275|TCCAAAACAGTAGGCATATT|WDR78_ENST00000431318.1_FRAME_SHIFT_INS_p.T539fs/RP11-342H21.2_ENST00000456389.1_FIVE_PRIME_FLANK|||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||true|false||false|false|||false|false|false|WDR78:79819|false|true|false|false|false|false|false|false|false|false|true|false|false|false|false|false|false|false|false|true|754415129|67288063|false|false|0|false|0|false||false|false|false|DIV|false|0x050000001205000402000200|1|false|144|rs754415129]
 chr1	67773351	rs12142823	C	T	.	PASS	FUNCOTATION=[IL12RB2|hg19|chr1|67773351|67773351|DE_NOVO_START_OUT_FRAME||SNP|C|C|T|g.chr1:67773351C>T|ENST00000262345.1|+|1|||||0.6633416458852868|GTGGAAACCACGGGCGCCCGC|IL12RB2_ENST00000371000.1_DE_NOVO_START_OUT_FRAME/IL12RB2_ENST00000541374.1_FIVE_PRIME_FLANK/IL12RB2_ENST00000544434.1_FIVE_PRIME_FLANK|||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||true|false|0.8325_%2C_._%2C_0.1675|false|false|1||false|true|true|IL12RB2:3595|true|true|false|true|true|false|false|false|false|false|false|false|false|false|false|false|false|false|true|false|12142823|67773351|false|false|0|true|0|false|0.85727_%2C_6.8686e-005_%2C_0.142661|false|false|true|SNV|true|0x05010042000517053e000100|1|false|120|rs12142823]
 chr1	74671167	var_1_74671167	A	ATTTC	.	PASS	FUNCOTATION=[FPGT-TNNI3K|hg19|chr1|74671167|74671168|INTRON||INS|-|-|TTTC|g.chr1:74671167_74671168insTTTC|ENST00000370899.3|+|||c.e3+4073A>ATTTC|||0.395|ACTTGAAAAAGAGTGTGAAA|FPGT-TNNI3K_ENST00000557284.2_INTRON/FPGT_ENST00000370898.3_FRAME_SHIFT_INS_p.K492fs/FPGT_ENST00000534056.1_FRAME_SHIFT_INS_p.K225fs/FPGT_ENST00000370894.5_THREE_PRIME_UTR/FPGT-TNNI3K_ENST00000370895.1_INTRON/FPGT-TNNI3K_ENST00000370893.1_INTRON/FPGT_ENST00000609362.1_FRAME_SHIFT_INS_p.K479fs/TNNI3K_ENST00000370891.2_INTRON/FPGT_ENST00000524915.1_INTRON/FPGT-TNNI3K_ENST00000533006.1_INTRON|||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||true|false||false|false|||false|false|false|FPGT-TNNI3K:100526835_%7C_FPGT:8790|false|true|true|false|false|false|false|false|false|false|true|false|false|false|false|false|false|false|false|true|763292758|74671167|false|false|0|false|0|false|0.999966_%2C_3.4343e-005|false|true|false|DIV|true|0x050000881205040402000200|1|false|144|rs763292758]
 chr1	86841963	indel.4587	G	GT	.	PASS	FUNCOTATION=[ODF2L|hg19|chr1|86841963|86841964|FRAME_SHIFT_INS||INS|-|-|T|g.chr1:86841963_86841964insT|ENST00000370566.3|-|8|1130|c.762_763insA|c.(763-765)catfs|p.H255fs|0.2775|CTGTAAAATGGTCAAGCCTT|ODF2L_ENST00000359242.3_FRAME_SHIFT_INS_p.H255fs/ODF2L_ENST00000294678.2_FRAME_SHIFT_INS_p.H255fs/ODF2L_ENST00000317336.7_FRAME_SHIFT_INS_p.H255fs/ODF2L_ENST00000370567.1_FRAME_SHIFT_INS_p.H255fs/ODF2L_ENST00000394731.1_FRAME_SHIFT_INS_p.H124fs/ODF2L_ENST00000524695.1_FIVE_PRIME_FLANK|||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||true|false||false|false|||false|false|false|ODF2L:57489|false|true|false|false|false|false|false|false|false|false|true|false|false|false|false|false|false|false|false|true|867604743|86841963|false|false|0|false|0|false||false|false|false|DIV|false|0x050000001205000402000200|1|false|147|rs867604743]
@@ -225,13 +225,13 @@ chr1	92729242	indel.4840	A	AG	.	PASS	FUNCOTATION=[GLMN|hg19|chr1|92729242|927292
 chr1	100327026	rs2307129	C	T	.	PASS	FUNCOTATION=[AGL|hg19|chr1|100327026|100327026|INTRON||SNP|C|C|T|g.chr1:100327026C>T|ENST00000294724.4|+|||c.e3-33C>T|||0.32418952618453867|TTAAGTCCTACGATGAGTTTA|AGL_ENST00000361915.3_INTRON/AGL_ENST00000370163.3_INTRON/AGL_ENST00000370165.3_INTRON/AGL_ENST00000361522.4_DE_NOVO_START_IN_FRAME/AGL_ENST00000361302.3_INTRON/AGL_ENST00000370161.2_INTRON|||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||true|false|0.7728_%2C_0.2272|false|false|1||false|true|true|AGL:178|true|true|true|true|true|false|false|false|false|false|false|false|false|false|false|true|true|false|false|false|2307129|100327026|true|false|0|true|0|false|0.729068_%2C_0.270932|false|false|true|SNV|true|0x05012848000517053f000100|1|false|100|rs2307129]
 chr1	110300600	indel.5498	C	CCTGCTGGTTTT	.	PASS	FUNCOTATION=[EPS8L3|hg19|chr1|110300600|110300601|FRAME_SHIFT_INS||INS|-|-|CTGCTGGTTTT|g.chr1:110300600_110300601insCTGCTGGTTTT|ENST00000369805.3|-|9|1031|c.800_801insAAAACCAGCAG|c.(799-801)aagfs|p.K269fs|0.58|AAATTTCTTCTTCCTGCTGG|EPS8L3_ENST00000361965.4_FRAME_SHIFT_INS_p.K268fs/EPS8L3_ENST00000361852.4_FRAME_SHIFT_INS_p.K268fs/RP4-735C1.4_ENST00000431955.1_RNA|||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||true|false||false|false|||false|false|false|EPS8L3:79574_%7C_LOC101928585:101928585|false|true|true|false|false|false|false|false|false|false|true|false|false|false|false|false|false|false|false|true|562835845|110300600|false|false|0|false|0|false|0.999966_%2C_3.4343e-005|false|false|false|DIV|true|0x050000081205040402000200|1|false|142|rs562835845]
 chr1	113010195	exm84380	T	G	.	PASS	FUNCOTATION=[WNT2B|hg19|chr1|113010195|113010195|DE_NOVO_START_OUT_FRAME||SNP|T|T|G|g.chr1:113010195T>G|ENST00000256640.5|+|1|||||0.36658354114713215|CCATAAGCATTTTTGGAATTC|WNT2B_ENST00000369686.5_MISSENSE_p.I12M|||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||true|false|0.9998_%2C_0.0001997|false|false|0||false|false|false|WNT2B:7482|false|true|false|true|true|false|false|false|false|false|false|true|false|false|false|false|false|false|false|true|189656664|113010195|false|false|0|false|0|false|0.999966_%2C_3.4343e-005|false|false|true|SNV|true|0x050000400a05040436000100|1|false|135|rs189656664]
-chr1	114447565	exm2230834	G	A	.	PASS	FUNCOTATION=[AP4B1|hg19|chr1|114447565|114447565|DE_NOVO_START_OUT_FRAME||SNP|G|G|A|g.chr1:114447565G>A|ENST00000369569.1|-|1|||||0.6309226932668329|AGGCCCTACCGTCGGCCGGCA|AP4B1_ENST00000256658.4_DE_NOVO_START_OUT_FRAME/AP4B1_ENST00000369566.3_FIVE_PRIME_FLANK/AP4B1_ENST00000369567.1_FIVE_PRIME_FLANK|||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||true|false|0.6705_%2C_0.3295|false|false|1||false|true|false|DCLRE1B:64858_%7C_AP4B1:10717|true|true|true|true|true|false|false|false|false|false|false|false|false|false|false|false|false|false|true|false|1217397|114447565|true|false|0|true|0|false|0.586304_%2C_0.413696|false|false|true|SNV|true|0x0501004a000515053f000101|1|false|87|rs1217397]
+chr1	114447565	exm2230834	G	A	.	PASS	FUNCOTATION=[AP4B1|hg19|chr1|114447565|114447565|DE_NOVO_START_OUT_FRAME||SNP|G|G|A|g.chr1:114447565G>A|ENST00000369569.1|-|1|||||0.6309226932668329|AGGCCCTACCGTCGGCCGGCA|AP4B1_ENST00000256658.4_DE_NOVO_START_OUT_FRAME/DCLRE1B_ENST00000369563.3_FIVE_PRIME_FLANK/AP4B1_ENST00000369566.3_FIVE_PRIME_FLANK/AP4B1_ENST00000369567.1_FIVE_PRIME_FLANK/DCLRE1B_ENST00000466480.1_FIVE_PRIME_FLANK|||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||true|false|0.6705_%2C_0.3295|false|false|1||false|true|false|DCLRE1B:64858_%7C_AP4B1:10717|true|true|true|true|true|false|false|false|false|false|false|false|false|false|false|false|false|false|true|false|1217397|114447565|true|false|0|true|0|false|0.586304_%2C_0.413696|false|false|true|SNV|true|0x0501004a000515053f000101|1|false|87|rs1217397]
 chr1	120307172	indel.6031	A	ATTGGCCTCCAGGGCCA	.	PASS	FUNCOTATION=[HMGCS2|hg19|chr1|120307172|120307173|FRAME_SHIFT_INS||INS|-|-|TTGGCCTCCAGGGCCA|g.chr1:120307172_120307173insTTGGCCTCCAGGGCCA|ENST00000369406.3|-|2|232|c.181_182insTGGCCCTGGAGGCCAA|c.(181-183)gtcfs|p.Y62fs|0.4875|GGGAAGTAGACCTCCAGGGC|HMGCS2_ENST00000544913.2_FRAME_SHIFT_INS_p.Y62fs/HMGCS2_ENST00000476640.1_INTRON|||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||false|false||false|false|||false|false|false||false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|||false|false||false||false||false|false|false||false|||false||]
 chr1	156571202	exm109653	G	A	.	PASS	FUNCOTATION=[GPATCH4|hg19|chr1|156571202|156571202|SPLICE_SITE|SILENT|SNP|G|G|A|g.chr1:156571202G>A|ENST00000438976.2|-|1|61|c.30C>T|c.(28-30)gaC>gaT|p.D10D|0.5610972568578554|GCCCCTTACCGTCATTGCTGG|GPATCH4_ENST00000368232.4_DE_NOVO_START_OUT_FRAME/GPATCH4_ENST00000334588.7_DE_NOVO_START_OUT_FRAME/GPATCH4_ENST00000497287.1_FIVE_PRIME_FLANK|||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||true|false||false|false|||false|false|false|GPATCH4:54865|false|true|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|true|202090190|156571202|false|false|0|false|0|true|0.999279_%2C_0.000721203|false|false|true|SNV|true|0x050000400305040402000100|1|false|137|rs202090190]
 chr1	171154418	rs28369797	C	T	.	PASS	FUNCOTATION=[FMO2|hg19|chr1|171154418|171154418|DE_NOVO_START_OUT_FRAME||SNP|C|C|T|g.chr1:171154418C>T|ENST00000209929.7|+|1|||||0.43640897755610975|CTCTTAAAAACGCTTCCAACT|FMO2_ENST00000441535.1_DE_NOVO_START_OUT_FRAME/FMO2_ENST00000529935.1_FIVE_PRIME_FLANK|||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||true|false|0.9882_%2C_._%2C_0.01178|false|false|1||false|true|false|FMO2:2327|true|true|false|true|true|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|28369797|171154418|false|false|0|true|0|false|0.993028_%2C_._%2C_0.00697163|true|false|true|SNV|true|0x050110400005150537000100|1|false|125|rs28369797]
 chr1	209932121	rs10489341	C	T	.	PASS	FUNCOTATION=[TRAF3IP3|hg19|chr1|209932121|209932121|DE_NOVO_START_OUT_FRAME||SNP|C|C|T|g.chr1:209932121C>T|ENST00000367024.1|+|1|||||0.5236907730673317|GAATTTCCAACGCTCAGGATC|TRAF3IP3_ENST00000367025.3_INTRON/TRAF3IP3_ENST00000367026.3_INTRON/TRAF3IP3_ENST00000400959.3_INTRON/TRAF3IP3_ENST00000010338.4_FIVE_PRIME_FLANK|||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||true|false|0.8838_%2C_0.1162|false|false|1||false|true|false|TRAF3IP3:80342|true|true|true|true|true|false|false|false|false|false|false|false|false|false|false|true|true|false|false|false|10489341|209932121|false|false|0|true|0|false|0.849876_%2C_0.150124|false|false|true|SNV|true|0x05012848000515053f000100|1|false|119|rs10489341]
-chr1	228296020	variant.10429	C	A	.	PASS	FUNCOTATION=[MRPL55|hg19|chr1|228296020|228296020|DE_NOVO_START_IN_FRAME||SNP|C|C|A|g.chr1:228296020C>A|ENST00000366735.1|-|1|||||0.5286783042394015|GGCGTGCAACCTGCTAGGCAG|MRPL55_ENST00000366734.1_DE_NOVO_START_IN_FRAME/MRPL55_ENST00000366740.1_DE_NOVO_START_IN_FRAME/MRPL55_ENST00000366742.1_DE_NOVO_START_IN_FRAME/MRPL55_ENST00000411464.2_SPLICE_SITE/MRPL55_ENST00000366733.1_SPLICE_SITE/MRPL55_ENST00000336520.3_SPLICE_SITE/MRPL55_ENST00000366744.1_SPLICE_SITE/MRPL55_ENST00000336300.5_SPLICE_SITE/MRPL55_ENST00000348259.5_SPLICE_SITE/MRPL55_ENST00000366736.1_SPLICE_SITE/MRPL55_ENST00000366739.1_SPLICE_SITE/MRPL55_ENST00000295008.4_SPLICE_SITE/MRPL55_ENST00000366741.1_SPLICE_SITE/MRPL55_ENST00000366747.3_SPLICE_SITE/MRPL55_ENST00000366746.3_SPLICE_SITE/MRPL55_ENST00000366732.1_SPLICE_SITE/MRPL55_ENST00000366738.1_SPLICE_SITE/MRPL55_ENST00000391867.3_DE_NOVO_START_IN_FRAME/MRPL55_ENST00000366731.5_SPLICE_SITE/MRPL55_ENST00000430433.1_SPLICE_SITE/MRPL55_ENST00000465397.1_SPLICE_SITE|||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||true|true||false|false|||false|false|false|MRPL55:128308|false|true|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|868542799|228296020|false|false|0|false|0|false|0.999931_%2C_6.86908e-005|false|false|true|SNV|false|0x050000600005000402000100|1|false|147|rs868542799]
-chr2	3519739	rs6422709	C	A	.	PASS	FUNCOTATION=[ADI1|hg19|chr2|3519739|3519739|INTRON||SNP|C|C|A|g.chr2:3519739C>A|ENST00000327435.6|-|||c.e2+1992G>T|||0.38154613466334164|AAAACTTAGCCTATCCACTGC|ADI1_ENST00000382093.5_DE_NOVO_START_OUT_FRAME|||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||true|false|0.8101_%2C_0.1899|false|false|1||false|true|true|ADI1:55256|true|true|true|true|true|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|6422709|3519739|false|false|0|true|0|false|0.805468_%2C_0.194532|false|false|true|SNV|true|0x05010048000517053f000100|1|false|116|rs6422709]
+chr1	228296020	variant.10429	C	A	.	PASS	FUNCOTATION=[MRPL55|hg19|chr1|228296020|228296020|DE_NOVO_START_IN_FRAME||SNP|C|C|A|g.chr1:228296020C>A|ENST00000366735.1|-|1|||||0.5286783042394015|GGCGTGCAACCTGCTAGGCAG|MRPL55_ENST00000366734.1_DE_NOVO_START_IN_FRAME/MRPL55_ENST00000366740.1_DE_NOVO_START_IN_FRAME/MRPL55_ENST00000366742.1_DE_NOVO_START_IN_FRAME/MRPL55_ENST00000411464.2_SPLICE_SITE/MRPL55_ENST00000366733.1_SPLICE_SITE/MRPL55_ENST00000336520.3_SPLICE_SITE/MRPL55_ENST00000366744.1_SPLICE_SITE/MRPL55_ENST00000336300.5_SPLICE_SITE/MRPL55_ENST00000348259.5_SPLICE_SITE/MRPL55_ENST00000366736.1_SPLICE_SITE/MRPL55_ENST00000366739.1_SPLICE_SITE/MRPL55_ENST00000295008.4_SPLICE_SITE/MRPL55_ENST00000366741.1_SPLICE_SITE/MRPL55_ENST00000366747.3_SPLICE_SITE/MRPL55_ENST00000366746.3_SPLICE_SITE/MRPL55_ENST00000366732.1_SPLICE_SITE/MRPL55_ENST00000366738.1_SPLICE_SITE/MRPL55_ENST00000391867.3_DE_NOVO_START_IN_FRAME/MRPL55_ENST00000366731.5_SPLICE_SITE/MRPL55_ENST00000430433.1_SPLICE_SITE/C1orf35_ENST00000272139.4_FIVE_PRIME_FLANK/C1orf35_ENST00000472617.1_FIVE_PRIME_FLANK/MRPL55_ENST00000465397.1_SPLICE_SITE|||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||true|true||false|false|||false|false|false|MRPL55:128308|false|true|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|868542799|228296020|false|false|0|false|0|false|0.999931_%2C_6.86908e-005|false|false|true|SNV|false|0x050000600005000402000100|1|false|147|rs868542799]
+chr2	3519739	rs6422709	C	A	.	PASS	FUNCOTATION=[ADI1|hg19|chr2|3519739|3519739|INTRON||SNP|C|C|A|g.chr2:3519739C>A|ENST00000327435.6|-|||c.e2+1992G>T|||0.38154613466334164|AAAACTTAGCCTATCCACTGC|ADI1_ENST00000382093.5_DE_NOVO_START_OUT_FRAME/AC142528.1_ENST00000450917.1_FIVE_PRIME_FLANK|||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||true|false|0.8101_%2C_0.1899|false|false|1||false|true|true|ADI1:55256|true|true|true|true|true|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|6422709|3519739|false|false|0|true|0|false|0.805468_%2C_0.194532|false|false|true|SNV|true|0x05010048000517053f000100|1|false|116|rs6422709]
 chr2	27603003	exm181213	G	A	.	PASS	FUNCOTATION=[ZNF513|hg19|chr2|27603003|27603003|SILENT||SNP|G|G|A|g.chr2:27603003G>A|ENST00000323703.6|-|2|367|c.168C>T|c.(166-168)gaC>gaT|p.D56D|0.5461346633416458|CACTGTTGCCGTCGCCTTCCT|ZNF513_ENST00000407879.1_DE_NOVO_START_OUT_FRAME/ZNF513_ENST00000491924.1_FIVE_PRIME_FLANK|||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||true|false|0.9998_%2C_0.0001997_%2C_.|false|false|0||false|false|false|ZNF513:130557|false|true|false|true|true|false|false|false|false|false|false|true|false|false|false|false|false|false|true|true|144091327|27603003|false|false|0|false|0|true|0.999519_%2C_0.000480835_%2C_.|false|false|true|SNV|true|0x050000420b05040436000100|1|false|134|rs144091327]
 chr2	36818090	exm186382	T	C	.	PASS	FUNCOTATION=[FEZ2|hg19|chr2|36818090|36818090|MISSENSE||SNP|T|T|C|g.chr2:36818090T>C|ENST00000379245.4|-|2|380|c.331A>G|c.(331-333)Act>Gct|p.T111A|0.371571072319202|AAGGTCCTAGTATGCGATGAC|FEZ2_ENST00000405912.3_MISSENSE_p.T111A/FEZ2_ENST00000305852.7_DE_NOVO_START_OUT_FRAME|||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||true|false|0.9992_%2C_0.0007987|false|false|0||false|false|false|FEZ2:9637|true|true|false|true|true|false|false|false|false|false|false|true|false|false|false|false|false|false|false|true|35730082|36818090|true|false|0|true|0|false|0.999622_%2C_0.000377799|false|false|false|SNV|true|0x050100000a05040536000100|1|false|126|rs35730082]
 chr2	169926086	rs11889286	C	T	.	PASS	FUNCOTATION=[DHRS9|hg19|chr2|169926086|169926086|DE_NOVO_START_OUT_FRAME||SNP|C|C|T|g.chr2:169926086C>T|ENST00000357546.2|+|2|||||0.4239401496259352|CAGAGCTCTACGGAAACCCAG|DHRS9_ENST00000428522.1_DE_NOVO_START_OUT_FRAME/DHRS9_ENST00000327239.4_INTRON/DHRS9_ENST00000602501.1_INTRON/DHRS9_ENST00000421653.1_DE_NOVO_START_OUT_FRAME/DHRS9_ENST00000432060.2_INTRON/DHRS9_ENST00000436483.2_FIVE_PRIME_FLANK|||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||true|false|0.9786_%2C_0.02137|false|false|1||false|true|false|DHRS9:10170|true|true|true|true|true|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|11889286|169926086|false|false|0|true|0|false|0.971118_%2C_0.0288825|false|false|true|SNV|true|0x05010048000515053f000100|1|false|120|rs11889286]
@@ -265,14 +265,14 @@ chr3	178936090	.	T	TGAG	.	PASS	FUNCOTATION=[PIK3CA|hg19|chr3|178936090|178936091
 chr3	178936090	.	T	TGAGC	.	PASS	FUNCOTATION=[PIK3CA|hg19|chr3|178936090|178936091|FRAME_SHIFT_INS||INS|-|-|GAGC|g.chr3:178936090_178936091insGAGC|ENST00000263967.3|+|10|1789|c.1632_1633insGAGC|c.(1633-1635)gagfs|p.Q546fs|0.3|TGAAATCACTGAGCAGGAGA||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||false|false||false|false|||false|false|false||false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|||false|false||false||false||false|false|false||false|||false||]
 chr4	82126215	var_4_82126215	C	A	.	PASS	FUNCOTATION=[PRKG2|hg19|chr4|82126215|82126215|SPLICE_SITE|INTRON|SNP|C|C|A|g.chr4:82126215C>A|ENST00000395578.1|-|||c.e2+1G>T|c.e2-1||0.4513715710723192|GCTCAGGGACCTGAGAAGGCA|PRKG2_ENST00000264399.1_DE_NOVO_START_IN_FRAME/PRKG2_ENST00000418486.2_SPLICE_SITE|||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||true|true||false|false|||false|false|false|PRKG2:5593|false|true|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|866277244|82126215|false|false|0|false|0|false||false|false|false|SNV|false|0x050000200005000402000100|1|false|147|rs866277244]
 chr4	87028376	exm411105	G	A	.	PASS	FUNCOTATION=[MAPK10|hg19|chr4|87028376|87028376|SPLICE_SITE|SILENT|SNP|G|G|A|g.chr4:87028376G>A|ENST00000395169.3|-|5|973|c.252C>T|c.(250-252)aaC>aaT|p.N84N|0.39900249376558605|CAAAACTCACGTTTTTATGGT|MAPK10_ENST00000395166.1_SPLICE_SITE_p.N84N/MAPK10_ENST00000395160.3_DE_NOVO_START_IN_FRAME/MAPK10_ENST00000395157.3_DE_NOVO_START_IN_FRAME/MAPK10_ENST00000359221.3_SPLICE_SITE_p.N122N/MAPK10_ENST00000361569.2_SPLICE_SITE_p.N122N/MAPK10_ENST00000395161.2_SPLICE_SITE_p.N122N/MAPK10_ENST00000449047.2_DE_NOVO_START_IN_FRAME/MAPK10_ENST00000513839.1_SPLICE_SITE|||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||true|false||false|false|||false|false|false|MAPK10:5602|false|true|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|true|200989776|87028376|false|true|0|false|0|true|0.999966_%2C_3.4343e-005|false|false|true|SNV|true|0x050200400305040402000100|1|false|137|rs200989776]
-chr5	1882759	.	C	CAT	.	PASS	FUNCOTATION=[IRX4|hg19|chr5|1882759|1882760|START_CODON_INS||INS|-|-|AT|g.chr5:1882759_1882760insAT|ENST00000505790.1|-|2|460|c.2_3insAT|||0.72|CGGGTAGGACATGGCGGGCG|IRX4_ENST00000231357.2_START_CODON_INS_/IRX4_ENST00000513692.1_START_CODON_INS_/IRX4_ENST00000505938.1_FIVE_PRIME_FLANK|||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||false|false||false|false|||false|false|false||false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|||false|false||false||false||false|false|false||false|||false||]
+chr5	1882759	.	C	CAT	.	PASS	FUNCOTATION=[IRX4|hg19|chr5|1882759|1882760|START_CODON_INS||INS|-|-|AT|g.chr5:1882759_1882760insAT|ENST00000505790.1|-|2|460|c.2_3insAT|||0.72|CGGGTAGGACATGGCGGGCG|IRX4_ENST00000231357.2_START_CODON_INS_/IRX4_ENST00000513692.1_START_CODON_INS_/IRX4_ENST00000505938.1_FIVE_PRIME_FLANK/CTD-2194D22.3_ENST00000506335.1_FIVE_PRIME_FLANK/CTD-2194D22.4_ENST00000514569.1_FIVE_PRIME_FLANK|||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||false|false||false|false|||false|false|false||false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|||false|false||false||false||false|false|false||false|||false||]
 chr6	88255394	var_6_88255394	CTTT	C	.	PASS	FUNCOTATION=[RARS2|hg19|chr6|88255395|88255397|IN_FRAME_DEL||DEL|TTT|TTT|-|g.chr6:88255395_88255397delTTT|ENST00000369536.5|-|7|521_523|c.472_474delAAA|c.(472-474)aaadel|p.K158del|0.2903225806451613|CTAAAGCTTCTTTGAGATTTGCT||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||true|false||false|false|||false|false|false|RARS2:57038|false|true|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|757743894|88255395|false|false|0|false|0|false|0.999966_%2C_3.4343e-005|false|false|false|DIV|true|0x050000000005040402000200|1|false|144|rs757743894]
 chr10	120795681	indel.14858	TCTCGGTCTCTTG	T	.	PASS	FUNCOTATION=[EIF3A|hg19|chr10|120795682|120795693|IN_FRAME_DEL||DEL|CTCGGTCTCTTG|CTCGGTCTCTTG|-|g.chr10:120795682_120795693delCTCGGTCTCTTG|ENST00000369144.3|-|22|4147_4158|c.4007_4018delCAAGAGACCGAG|c.(4006-4020)tcaagagaccgagaa>taa|p.1336_1340SRDRE>*|0.3859223300970874|CGGTCTCTTTCTCGGTCTCTTGAAAGAGCTGG|EIF3A_ENST00000541549.1_IN_FRAME_DEL_p.1302_1306SRDRE>*|||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||true|false||false|false|||false|false|false|EIF3A:8661|false|true|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|766037789|120795682|false|false|0|false|0|false||false|false|false|DIV|false|0x050000000005000402000200|1|false|144|rs766037789]
 chr12	11243923	indel.23289	TTTCACC	T	.	PASS	FUNCOTATION=[TAS2R43|hg19|chr12|11243924|11243929|IN_FRAME_DEL||DEL|TTCACC|TTCACC|-|g.chr12:11243924_11243929delTTCACC|ENST00000531678.1|-|1|990_995|c.900_905delGGTGAA|c.(898-906)tgggtgaaa>tga|p.300_302WVK>*|0.35714285714285715|CTTCTCTCCTTTCACCCAGTACCTCA|TAS2R14_ENST00000381852.4_INTRON/PRR4_ENST00000536668.1_INTRON|||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||true|false||false|false|||false|false|false|PRH1-TAS2R14:106707243_%7C_TAS2R43:259289_%7C_PRH1:5554_%7C_PRH1-PRR4:100533464|false|true|true|false|false|false|false|false|true|false|false|false|false|false|false|false|false|false|false|false|867813065|11243924|false|false|0|false|0|false||false|false|false|DIV|false|0x050000080005000402000210|1|false|147|rs867813065]
 chr12	55820040	indel.25160	GA	G	.	PASS	FUNCOTATION=[OR6C76|hg19|chr12|55820041|55820041|FRAME_SHIFT_DEL||DEL|A|A|-|g.chr12:55820041delA|ENST00000328314.3|+|1|3|c.4delA|c.(4-6)aaafs|p.N3fs|0.341645885286783|ATCAGAAATGAAAAATAGAAC||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||true|false||false|false|||false|false|false|OR6C76:390326|false|true|false|false|false|false|false|false|false|false|true|false|false|false|false|false|false|false|false|true|768848732|55820041|false|false|0|false|0|false|0.999966_%2C_3.4343e-005|false|false|false|DIV|false|0x050000001205000402000200|1|false|144|rs768848732]
-chr13	60738150	.	C	A	.	PASS	FUNCOTATION=[Unknown|hg19|chr13|60738150|60738150|IGR||SNP|C|C|A|g.chr13:60738150C>A|no_transcript|||||||0.6234413965087282|CCCTTCCGGGCACTGCGAAAC||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||false|false||false|false|||false|false|false||false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|||false|false||false||false||false|false|false||false|||false||]
-chr13	60738150	.	CAC	C	.	PASS	FUNCOTATION=[Unknown|hg19|chr13|60738151|60738152|IGR||DEL|AC|AC|-|g.chr13:60738151_60738152delAC|no_transcript|||||||0.6218905472636815|CCTTCCGGGCACTGCGAAACAT||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||false|false||false|false|||false|false|false||false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|||false|false||false||false||false|false|false||false|||false||]
-chr13	60738150	.	C	CAC	.	PASS	FUNCOTATION=[Unknown|hg19|chr13|60738150|60738151|IGR||INS|-|-|AC|g.chr13:60738150_60738151insAC|no_transcript|||||||0.6225|CCTTCCGGGCACTGCGAAAC||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||false|false||false|false|||false|false|false||false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|||false|false||false||false||false|false|false||false|||false||]
+chr13	60738150	.	C	A	.	PASS	FUNCOTATION=[DIAPH3|hg19|chr13|60738150|60738150|FIVE_PRIME_FLANK||SNP|C|C|A|g.chr13:60738150C>A|ENST00000267215.4|-||||||0.6234413965087282|CCCTTCCGGGCACTGCGAAAC|DIAPH3_ENST00000377908.2_FIVE_PRIME_FLANK/DIAPH3_ENST00000400319.1_FIVE_PRIME_FLANK/DIAPH3_ENST00000400320.1_FIVE_PRIME_FLANK/DIAPH3_ENST00000400324.4_FIVE_PRIME_FLANK/DIAPH3_ENST00000400330.1_FIVE_PRIME_FLANK|||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||false|false||false|false|||false|false|false||false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|||false|false||false||false||false|false|false||false|||false||]
+chr13	60738150	.	CAC	C	.	PASS	FUNCOTATION=[DIAPH3|hg19|chr13|60738151|60738152|FIVE_PRIME_FLANK||DEL|AC|AC|-|g.chr13:60738151_60738152delAC|ENST00000267215.4|-||||||0.6218905472636815|CCTTCCGGGCACTGCGAAACAT|DIAPH3_ENST00000377908.2_FIVE_PRIME_FLANK/DIAPH3_ENST00000400319.1_FIVE_PRIME_FLANK/DIAPH3_ENST00000400320.1_FIVE_PRIME_FLANK/DIAPH3_ENST00000400324.4_FIVE_PRIME_FLANK/DIAPH3_ENST00000400330.1_FIVE_PRIME_FLANK|||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||false|false||false|false|||false|false|false||false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|||false|false||false||false||false|false|false||false|||false||]
+chr13	60738150	.	C	CAC	.	PASS	FUNCOTATION=[DIAPH3|hg19|chr13|60738150|60738151|FIVE_PRIME_FLANK||INS|-|-|AC|g.chr13:60738150_60738151insAC|ENST00000267215.4|-||||||0.6225|CCTTCCGGGCACTGCGAAAC|DIAPH3_ENST00000377908.2_FIVE_PRIME_FLANK/DIAPH3_ENST00000400319.1_FIVE_PRIME_FLANK/DIAPH3_ENST00000400320.1_FIVE_PRIME_FLANK/DIAPH3_ENST00000400324.4_FIVE_PRIME_FLANK/DIAPH3_ENST00000400330.1_FIVE_PRIME_FLANK|||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||false|false||false|false|||false|false|false||false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|||false|false||false||false||false|false|false||false|||false||]
 chr19	9091787	.	A	ATTT	.	PASS	FUNCOTATION=[MUC16|hg19|chr19|9091787|9091788|IN_FRAME_INS||INS|-|-|TTT|g.chr19:9091787_9091788insTTT|ENST00000397910.4|-|1|232|c.27_28insAAA|c.(25-30)gggtca>gggAAAtca|p.9_10insK|0.5275|GAGAAGATGACCCAGGAAGG||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||false|false||false|false|||false|false|false||false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|||false|false||false||false||false|false|false||false|||false||]
 chr19	9091787	.	A	ATTTTTT	.	PASS	FUNCOTATION=[MUC16|hg19|chr19|9091787|9091788|IN_FRAME_INS||INS|-|-|TTTTTT|g.chr19:9091787_9091788insTTTTTT|ENST00000397910.4|-|1|232|c.27_28insAAAAAA|c.(25-30)gggtca>gggAAAAAAtca|p.9_10insKK|0.5275|GAGAAGATGACCCAGGAAGG||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||false|false||false|false|||false|false|false||false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|||false|false||false||false||false|false|false||false|||false||]
 chr19	9091787	.	ACCCA	A	.	PASS	FUNCOTATION=[MUC16|hg19|chr19|9091788|9091791|FRAME_SHIFT_DEL||DEL|CCCA|CCCA|-|g.chr19:9091788_9091791delCCCA|ENST00000397910.4|-|1|232_235|c.24_27delTGGG|c.(22-27)cctgggfs|p.G9fs|0.5247524752475248|GAGAAGATGACCCAGGAAGGCCTG||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||false|false||false|false|||false|false|false||false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|||false|false||false||false||false|false|false||false|||false||]
diff --git a/src/test/resources/org/broadinstitute/hellbender/tools/funcotator/validationTestData/regressionTestVariantSet2_expected.maf b/src/test/resources/org/broadinstitute/hellbender/tools/funcotator/validationTestData/regressionTestVariantSet2_expected.maf
index fadfa3fa2a6..476044959e8 100644
--- a/src/test/resources/org/broadinstitute/hellbender/tools/funcotator/validationTestData/regressionTestVariantSet2_expected.maf
+++ b/src/test/resources/org/broadinstitute/hellbender/tools/funcotator/validationTestData/regressionTestVariantSet2_expected.maf
@@ -88,9 +88,9 @@
 ## contig=<ID=GL000225.1,length=211173,assembly=b37>
 ## contig=<ID=GL000192.1,length=547496,assembly=b37>
 ## contig=<ID=NC_007605,length=171823,assembly=b37>
+## GATKCommandLine=<ID=Funcotator,CommandLine="Funcotator  --output /var/folders/4p/2b7bzvcx0x7bxvbztmwk__6rkr9cxg/T/regressionTestVariantSet2.vcf.funcotator8795919954705480823.maf --ref-version hg19 --data-sources-path /Users/jonn/Development/gatk/src/test/resources/large/funcotator/funcotator_dataSources/ --output-file-format MAF --variant /Users/jonn/Development/gatk/src/test/resources/org/broadinstitute/hellbender/tools/funcotator/validationTestData/regressionTestVariantSet2.vcf --reference /Users/jonn/Development/gatk/src/test/resources/large/Homo_sapiens_assembly19.fasta.gz --verbosity INFO  --remove-filtered-variants false --transcript-selection-mode CANONICAL --five-prime-flank-size 5000 --three-prime-flank-size 0 --lookahead-cache-bp 100000 --force-b37-to-hg19-reference-contig-conversion false --interval-set-rule UNION --interval-padding 0 --interval-exclusion-padding 0 --interval-merging-rule ALL --read-validation-stringency SILENT --seconds-between-progress-updates 10.0 --disable-sequence-dictionary-validation false --create-output-bam-index true --create-output-bam-md5 false --create-output-variant-index true --create-output-variant-md5 false --lenient false --add-output-sam-program-record true --add-output-vcf-command-line true --cloud-prefetch-buffer 40 --cloud-index-prefetch-buffer -1 --disable-bam-index-caching false --sites-only-vcf-output false --help false --version false --showHidden false --QUIET false --use-jdk-deflater false --use-jdk-inflater false --gcs-max-retries 20 --gcs-project-for-requester-pays  --disable-tool-default-read-filters false",Version=Unavailable-0.0.5,Date="November 16, 2018 12:40:40 PM EST">
 ## source=Funcotator
-## GATKCommandLine=<ID=Funcotator,CommandLine="Funcotator  --output /var/folders/kn/f9s03hnn0xgby73plpc89lz0_ns740/T/regressionTestVariantSet2.vcf.funcotator8028439226596004133.maf --ref-version hg19 --data-sources-path /Users/droazen/src/hellbender/src/test/resources/large/funcotator/funcotator_dataSources/ --output-file-format MAF --variant /Users/droazen/src/hellbender/src/test/resources/org/broadinstitute/hellbender/tools/funcotator/validationTestData/regressionTestVariantSet2.vcf --reference /Users/droazen/src/hellbender/src/test/resources/large/Homo_sapiens_assembly19.fasta.gz --verbosity INFO  --remove-filtered-variants false --transcript-selection-mode CANONICAL --five-prime-flank-size 5000 --three-prime-flank-size 0 --lookahead-cache-bp 100000 --force-b37-to-hg19-reference-contig-conversion false --interval-set-rule UNION --interval-padding 0 --interval-exclusion-padding 0 --interval-merging-rule ALL --read-validation-stringency SILENT --seconds-between-progress-updates 10.0 --disable-sequence-dictionary-validation false --create-output-bam-index true --create-output-bam-md5 false --create-output-variant-index true --create-output-variant-md5 false --lenient false --add-output-sam-program-record true --add-output-vcf-command-line true --cloud-prefetch-buffer 40 --cloud-index-prefetch-buffer -1 --disable-bam-index-caching false --sites-only-vcf-output false --help false --version false --showHidden false --QUIET false --use-jdk-deflater false --use-jdk-inflater false --gcs-max-retries 20 --gcs-project-for-requester-pays  --disable-tool-default-read-filters false",Version=Unavailable-0.0.5,Date="November 15, 2018 1:44:44 PM EST">
-##  Funcotator 0.0.5 | Date 20184415T014444 | Gencode 19 CANONICAL | Achilles 110303 | CGC full_2012_03-15 | ClinVar 12.03.20 | Cosmic 83 | CosmicFusion v83 | CosmicTissue v83 | DNARepairGenes 20171217T214737  | Familial_Cancer_Genes 20110905 | Gencode_XHGNC 75_37 | Gencode_XRefSeq 75_37 | HGNC Nov302017 | Simple_Uniprot 2014_12 | dbSNP 9606_b150
+##  Funcotator 0.0.5 | Date 20184016T124040 | Gencode 19 CANONICAL | Achilles 110303 | CGC full_2012_03-15 | ClinVar 12.03.20 | Cosmic 83 | CosmicFusion v83 | CosmicTissue v83 | DNARepairGenes 20171217T214737  | Familial_Cancer_Genes 20110905 | Gencode_XHGNC 75_37 | Gencode_XRefSeq 75_37 | HGNC Nov302017 | Simple_Uniprot 2014_12 | dbSNP 9606_b150
 Hugo_Symbol	Entrez_Gene_Id	Center	NCBI_Build	Chromosome	Start_Position	End_Position	Strand	Variant_Classification	Variant_Type	Reference_Allele	Tumor_Seq_Allele1	Tumor_Seq_Allele2	dbSNP_RS	dbSNP_Val_Status	Tumor_Sample_Barcode	Matched_Norm_Sample_Barcode	Match_Norm_Seq_Allele1	Match_Norm_Seq_Allele2	Tumor_Validation_Allele1	Tumor_Validation_Allele2	Match_Norm_Validation_Allele1	Match_Norm_Validation_Allele2	Verification_Status	Validation_Status	Mutation_Status	Sequencing_Phase	Sequence_Source	Validation_Method	Score	BAM_File	Sequencer	Tumor_Sample_UUID	Matched_Norm_Sample_UUID	Genome_Change	Annotation_Transcript	Transcript_Strand	Transcript_Exon	Transcript_Position	cDNA_Change	Codon_Change	Protein_Change	Other_Transcripts	Refseq_mRNA_Id	Refseq_prot_Id	SwissProt_acc_Id	SwissProt_entry_Id	Description	UniProt_AApos	UniProt_Region	UniProt_Site	UniProt_Natural_Variations	UniProt_Experimental_Info	GO_Biological_Process	GO_Cellular_Component	GO_Molecular_Function	COSMIC_overlapping_mutations	COSMIC_fusion_genes	COSMIC_tissue_types_affected	COSMIC_total_alterations_in_gene	Tumorscape_Amplification_Peaks	Tumorscape_Deletion_Peaks	TCGAscape_Amplification_Peaks	TCGAscape_Deletion_Peaks	DrugBank	ref_context	gc_content	CCLE_ONCOMAP_overlapping_mutations	CCLE_ONCOMAP_total_mutations_in_gene	CGC_Mutation_Type	CGC_Translocation_Partner	CGC_Tumor_Types_Somatic	CGC_Tumor_Types_Germline	CGC_Other_Diseases	DNARepairGenes_Activity_linked_to_OMIM	FamilialCancerDatabase_Syndromes	MUTSIG_Published_Results	OREGANNO_ID	OREGANNO_Values	tumor_f	t_alt_count	t_ref_count	n_alt_count	n_ref_count	Gencode_19_secondaryVariantClassification	Achilles_Top_Genes	CGC_Name	CGC_GeneID	CGC_Chr	CGC_Chr_Band	CGC_Cancer_Somatic_Mut	CGC_Cancer_Germline_Mut	CGC_Cancer_Syndrome	CGC_Tissue_Type	CGC_Cancer_Molecular_Genetics	CGC_Other_Germline_Mut	ClinVar_HGMD_ID	ClinVar_SYM	ClinVar_TYPE	ClinVar_ASSEMBLY	ClinVar_rs	CosmicFusion_fusion_id	DNARepairGenes_Chromosome_location_linked_to_NCBI_MapView	DNARepairGenes_Accession_number_linked_to_NCBI_Entrez	Familial_Cancer_Genes_Synonym	Familial_Cancer_Genes_Reference	Gencode_XHGNC_hgnc_id	HGNC_HGNC_ID	HGNC_Status	HGNC_Locus_Type	HGNC_Locus_Group	HGNC_Previous_Symbols	HGNC_Previous_Name	HGNC_Synonyms	HGNC_Name_Synonyms	HGNC_Chromosome	HGNC_Date_Modified	HGNC_Date_Symbol_Changed	HGNC_Date_Name_Changed	HGNC_Accession_Numbers	HGNC_Enzyme_IDs	HGNC_Ensembl_Gene_ID	HGNC_Pubmed_IDs	HGNC_RefSeq_IDs	HGNC_Gene_Family_ID	HGNC_Gene_Family_Name	HGNC_CCDS_IDs	HGNC_Vega_ID	HGNC_OMIM_ID(supplied_by_OMIM)	HGNC_RefSeq(supplied_by_NCBI)	HGNC_UniProt_ID(supplied_by_UniProt)	HGNC_Ensembl_ID(supplied_by_Ensembl)	HGNC_UCSC_ID(supplied_by_UCSC)	Simple_Uniprot_alt_uniprot_accessions	dbSNP_AC	dbSNP_AF	dbSNP_AN	dbSNP_ASP	dbSNP_ASS	dbSNP_CAF	dbSNP_CDA	dbSNP_CFL	dbSNP_COMMON	dbSNP_DP	dbSNP_DSS	dbSNP_G5	dbSNP_G5A	dbSNP_GENEINFO	dbSNP_GNO	dbSNP_HD	dbSNP_INT	dbSNP_KGPhase1	dbSNP_KGPhase3	dbSNP_LSD	dbSNP_MTP	dbSNP_MUT	dbSNP_NOC	dbSNP_NOV	dbSNP_NSF	dbSNP_NSM	dbSNP_NSN	dbSNP_OM	dbSNP_OTH	dbSNP_PM	dbSNP_PMC	dbSNP_R3	dbSNP_R5	dbSNP_REF	dbSNP_RV	dbSNP_S3D	dbSNP_SAO	dbSNP_SLO	dbSNP_SSR	dbSNP_SYN	dbSNP_TOPMED	dbSNP_TPA	dbSNP_U3	dbSNP_U5	dbSNP_VC	dbSNP_VP	dbSNP_WGT	dbSNP_WTD	dbSNP_dbSNPBuildID	dbSNP_ID	HGNC_Entrez_Gene_ID(supplied_by_NCBI)	dbSNP_RSPOS	dbSNP_VLD	
 DDX11L1		__UNKNOWN__	hg19	1	10147	10148	+	5'Flank	DEL	C	C	-			__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	NA	NA	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	g.chr1:10147delC	ENST00000456328.2	+												__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__								__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__		CTAACCCTAACCCCTAACCCT	0.4463840399002494	__UNKNOWN__	__UNKNOWN__								__UNKNOWN__	__UNKNOWN__	__UNKNOWN__																																																											false	false		false	false			false	false	false		false	false	false	false	false	false	false	false	false	false	false	false	false	false	false	false	false	false	false	false	false	false		false		false		false	false	false				false					false	
 DDX11L1		__UNKNOWN__	hg19	1	10391	10476	+	5'Flank	DEL	CCCTAACCCCTAACCCTAACCCTAACCCTAACCCTAACCCTAA	CCCTAACCCCTAACCCTAACCCTAACCCTAACCCTAACCCTAA	-			__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	NA	NA	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	g.chr1:10391_10433delCCCTAACCCCTAACCCTAACCCTAACCCTAACCCTAACCCTAA	ENST00000456328.2	+												__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__								__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__		TAACCCTAACCCCTAACCCCTAACCCTAACCCTAACCCTAACCCTAACCCTAACCCTAACCCC	0.5801354401805869	__UNKNOWN__	__UNKNOWN__								__UNKNOWN__	__UNKNOWN__	__UNKNOWN__																																																											false	false		false	false			false	false	false		false	false	false	false	false	false	false	false	false	false	false	false	false	false	false	false	false	false	false	false	false	false		false		false		false	false	false				false					false	
@@ -118,14 +118,14 @@ Unknown		__UNKNOWN__	hg19	1	14599	14599	+	IGR	SNP	T	T	A	707680	by1000genomes	__U
 Unknown		__UNKNOWN__	hg19	1	14604	14604	+	IGR	SNP	A	A	G	541940975	byFrequency;by1000genomes	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	NA	NA	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	g.chr1:14604A>G	no_transcript													__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__								__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__		CCCCCTCCCAAGGAAGTAGGT	0.6159600997506235	__UNKNOWN__	__UNKNOWN__								__UNKNOWN__	__UNKNOWN__	__UNKNOWN__																																																											true	false	0.8524,0.1476	false	false	1		false	true	true	DDX11L1:100287102|WASH7P:653635	false	false	false	false	true	false	false	false	false	false	false	false	false	false	false	false	false	true	false	false	false	false	0	false	0	false		false	false	false	SNV	0x050000040005170026000100	1	false	142	rs541940975		14604	true	
 Unknown		__UNKNOWN__	hg19	1	30548	30548	+	IGR	SNP	T	T	G	62028215		__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	NA	NA	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	g.chr1:30548T>G	no_transcript													__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__								__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__		TTCCTAACACTCTCTCCCTCT	0.42144638403990026	__UNKNOWN__	__UNKNOWN__								__UNKNOWN__	__UNKNOWN__	__UNKNOWN__																																																											true	false		false	false			false	true	true	WASH7P:653635|MIR1302-2:100302278	true	false	false	false	false	false	false	false	false	false	false	false	false	false	false	false	false	true	true	false	true	false	0	true	0	false		false	false	false	SNV	0x050100060005030102000100	1	false	129	rs62028215		30548	false	
 OR4F5		__UNKNOWN__	hg19	1	69968	69968	+	Missense_Mutation	SNP	A	A	G			__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	NA	NA	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	g.chr1:69968A>G	ENST00000335137.3	+	1	878	c.878A>G	c.(877-879)cAg>cGg	p.Q293R							__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__								__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__		GCAATAAGACAGCTGAGAAAA	0.35910224438902744	__UNKNOWN__	__UNKNOWN__								__UNKNOWN__	__UNKNOWN__	__UNKNOWN__																																																											false	false		false	false			false	false	false		false	false	false	false	false	false	false	false	false	false	false	false	false	false	false	false	false	false	false	false	false	false		false		false		false	false	false				false					false	
-RP11-34P13.7		__UNKNOWN__	hg19	1	92638	92638	+	RNA	SNP	A	A	T	4430272		__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	NA	NA	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	g.chr1:92638A>T	ENST00000466430.1	-			c.e3+398T>A									__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__								__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__		AACCTCTCCAAACCTCAGTCC	0.44139650872817954	__UNKNOWN__	__UNKNOWN__								__UNKNOWN__	__UNKNOWN__	__UNKNOWN__																																																											true	false		false	false			false	false	false		true	false	false	false	false	false	false	false	false	false	false	false	false	false	false	false	false	false	false	false	false	false	0	true	0	false		false	false	false	SNV	0x050100000005000102000100	1	false	111	rs4430272		92638	false	
-RP11-34P13.7		__UNKNOWN__	hg19	1	93097	93097	+	RNA	SNP	C	C	T	62642102		__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	NA	NA	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	g.chr1:93097C>T	ENST00000466430.1	-			c.e3+857G>A									__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__								__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__		TGAACTTCAGCGTCTGGACAA	0.3316708229426434	__UNKNOWN__	__UNKNOWN__								__UNKNOWN__	__UNKNOWN__	__UNKNOWN__																																																											true	false		false	false			false	false	false		false	false	false	false	false	false	false	false	false	false	false	false	false	false	false	false	false	false	false	false	false	false	0	true	0	false		false	false	false	SNV	0x050100000005000002000100	1	false	129	rs62642102		93097	false	
-RP11-34P13.7		__UNKNOWN__	hg19	1	93449	93449	+	RNA	SNP	A	A	G	867796198		__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	NA	NA	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	g.chr1:93449A>G	ENST00000466430.1	-			c.e3+1209T>C									__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__								__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__		TTAACAGAAAAAGAAAATATG	0.33915211970074816	__UNKNOWN__	__UNKNOWN__								__UNKNOWN__	__UNKNOWN__	__UNKNOWN__																																																											true	false		false	false			false	false	false		false	false	false	false	false	false	false	false	false	false	false	false	false	false	false	false	false	false	false	false	false	false	0	true	0	false		false	false	false	SNV	0x050100000005000002000100	1	false	147	rs867796198		93449	false	
-RP11-34P13.7		__UNKNOWN__	hg19	1	93757	93757	+	RNA	SNP	C	C	T	867679461		__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	NA	NA	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	g.chr1:93757C>T	ENST00000466430.1	-			c.e3+1517G>A									__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__								__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__		TGTTTTTAGACGGAGTCTTGC	0.4339152119700748	__UNKNOWN__	__UNKNOWN__								__UNKNOWN__	__UNKNOWN__	__UNKNOWN__																																																											true	false		false	false			false	false	false		false	false	false	false	false	false	false	false	false	false	false	false	false	false	false	false	false	false	false	false	false	false	0	true	0	false		false	false	false	SNV	0x050100000005000002000100	1	false	147	rs867679461		93757	false	
-RP11-34P13.7		__UNKNOWN__	hg19	1	94271	94271	+	RNA	SNP	C	C	G	200715572		__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	NA	NA	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	g.chr1:94271C>G	ENST00000466430.1	-			c.e3+2031G>C									__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__								__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__		CCTATGGCCGCTGTTAGGATC	0.4688279301745636	__UNKNOWN__	__UNKNOWN__								__UNKNOWN__	__UNKNOWN__	__UNKNOWN__																																																											true	false		false	false			false	false	false		false	false	false	false	false	false	false	false	false	false	false	false	false	false	false	false	false	false	false	false	false	false	0	false	0	false		false	false	false	SNV	0x050000000005000002000100	1	false	137	rs200715572		94271	false	
-RP11-34P13.7		__UNKNOWN__	hg19	1	94570	94570	+	RNA	SNP	T	T	G	200113991		__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	NA	NA	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	g.chr1:94570T>G	ENST00000466430.1	-			c.e3+2330A>C									__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__								__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__		CAAGATGGCCTCACTCACAGG	0.4763092269326683	__UNKNOWN__	__UNKNOWN__								__UNKNOWN__	__UNKNOWN__	__UNKNOWN__																																																											true	false		false	false			false	false	false		false	false	false	false	false	false	false	false	false	false	false	false	false	false	false	false	false	false	false	false	false	false	0	false	0	false		false	false	false	SNV	0x050000000005000002000100	1	false	137	rs200113991		94570	false	
-RP11-34P13.7		__UNKNOWN__	hg19	1	94824	94825	+	RNA	INS	-	-	T			__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	NA	NA	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	g.chr1:94824_94825insT	ENST00000466430.1	-			c.e3+2584G>AG									__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__								__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__		TTTTCTTTTCTTTTTTTTTT	0.4325	__UNKNOWN__	__UNKNOWN__								__UNKNOWN__	__UNKNOWN__	__UNKNOWN__																																																											false	false		false	false			false	false	false		false	false	false	false	false	false	false	false	false	false	false	false	false	false	false	false	false	false	false	false	false	false		false		false		false	false	false				false					false	
-RP11-34P13.7		__UNKNOWN__	hg19	1	95907	95907	+	RNA	SNP	A	A	C			__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	NA	NA	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	g.chr1:95907A>C	ENST00000466430.1	-			c.e3+3667T>G									__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__								__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__		CATACTGCACAAGGAGGGAAC	0.513715710723192	__UNKNOWN__	__UNKNOWN__								__UNKNOWN__	__UNKNOWN__	__UNKNOWN__																																																											false	false		false	false			false	false	false		false	false	false	false	false	false	false	false	false	false	false	false	false	false	false	false	false	false	false	false	false	false		false		false		false	false	false				false					false	
+RP11-34P13.7		__UNKNOWN__	hg19	1	92638	92638	+	RNA	SNP	A	A	T	4430272		__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	NA	NA	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	g.chr1:92638A>T	ENST00000466430.1	-			c.e3+398T>A			RP11-34P13.8_ENST00000495576.1_5'Flank						__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__								__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__		AACCTCTCCAAACCTCAGTCC	0.44139650872817954	__UNKNOWN__	__UNKNOWN__								__UNKNOWN__	__UNKNOWN__	__UNKNOWN__																																																											true	false		false	false			false	false	false		true	false	false	false	false	false	false	false	false	false	false	false	false	false	false	false	false	false	false	false	false	false	0	true	0	false		false	false	false	SNV	0x050100000005000102000100	1	false	111	rs4430272		92638	false	
+RP11-34P13.7		__UNKNOWN__	hg19	1	93097	93097	+	RNA	SNP	C	C	T	62642102		__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	NA	NA	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	g.chr1:93097C>T	ENST00000466430.1	-			c.e3+857G>A			RP11-34P13.8_ENST00000495576.1_5'Flank						__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__								__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__		TGAACTTCAGCGTCTGGACAA	0.3316708229426434	__UNKNOWN__	__UNKNOWN__								__UNKNOWN__	__UNKNOWN__	__UNKNOWN__																																																											true	false		false	false			false	false	false		false	false	false	false	false	false	false	false	false	false	false	false	false	false	false	false	false	false	false	false	false	false	0	true	0	false		false	false	false	SNV	0x050100000005000002000100	1	false	129	rs62642102		93097	false	
+RP11-34P13.7		__UNKNOWN__	hg19	1	93449	93449	+	RNA	SNP	A	A	G	867796198		__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	NA	NA	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	g.chr1:93449A>G	ENST00000466430.1	-			c.e3+1209T>C			RP11-34P13.8_ENST00000495576.1_5'Flank						__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__								__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__		TTAACAGAAAAAGAAAATATG	0.33915211970074816	__UNKNOWN__	__UNKNOWN__								__UNKNOWN__	__UNKNOWN__	__UNKNOWN__																																																											true	false		false	false			false	false	false		false	false	false	false	false	false	false	false	false	false	false	false	false	false	false	false	false	false	false	false	false	false	0	true	0	false		false	false	false	SNV	0x050100000005000002000100	1	false	147	rs867796198		93449	false	
+RP11-34P13.7		__UNKNOWN__	hg19	1	93757	93757	+	RNA	SNP	C	C	T	867679461		__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	NA	NA	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	g.chr1:93757C>T	ENST00000466430.1	-			c.e3+1517G>A			RP11-34P13.8_ENST00000495576.1_5'Flank						__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__								__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__		TGTTTTTAGACGGAGTCTTGC	0.4339152119700748	__UNKNOWN__	__UNKNOWN__								__UNKNOWN__	__UNKNOWN__	__UNKNOWN__																																																											true	false		false	false			false	false	false		false	false	false	false	false	false	false	false	false	false	false	false	false	false	false	false	false	false	false	false	false	false	0	true	0	false		false	false	false	SNV	0x050100000005000002000100	1	false	147	rs867679461		93757	false	
+RP11-34P13.7		__UNKNOWN__	hg19	1	94271	94271	+	RNA	SNP	C	C	G	200715572		__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	NA	NA	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	g.chr1:94271C>G	ENST00000466430.1	-			c.e3+2031G>C			RP11-34P13.8_ENST00000495576.1_5'Flank						__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__								__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__		CCTATGGCCGCTGTTAGGATC	0.4688279301745636	__UNKNOWN__	__UNKNOWN__								__UNKNOWN__	__UNKNOWN__	__UNKNOWN__																																																											true	false		false	false			false	false	false		false	false	false	false	false	false	false	false	false	false	false	false	false	false	false	false	false	false	false	false	false	false	0	false	0	false		false	false	false	SNV	0x050000000005000002000100	1	false	137	rs200715572		94271	false	
+RP11-34P13.7		__UNKNOWN__	hg19	1	94570	94570	+	RNA	SNP	T	T	G	200113991		__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	NA	NA	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	g.chr1:94570T>G	ENST00000466430.1	-			c.e3+2330A>C			RP11-34P13.8_ENST00000495576.1_5'Flank						__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__								__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__		CAAGATGGCCTCACTCACAGG	0.4763092269326683	__UNKNOWN__	__UNKNOWN__								__UNKNOWN__	__UNKNOWN__	__UNKNOWN__																																																											true	false		false	false			false	false	false		false	false	false	false	false	false	false	false	false	false	false	false	false	false	false	false	false	false	false	false	false	false	0	false	0	false		false	false	false	SNV	0x050000000005000002000100	1	false	137	rs200113991		94570	false	
+RP11-34P13.7		__UNKNOWN__	hg19	1	94824	94825	+	RNA	INS	-	-	T			__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	NA	NA	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	g.chr1:94824_94825insT	ENST00000466430.1	-			c.e3+2584G>AG			RP11-34P13.8_ENST00000495576.1_5'Flank						__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__								__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__		TTTTCTTTTCTTTTTTTTTT	0.4325	__UNKNOWN__	__UNKNOWN__								__UNKNOWN__	__UNKNOWN__	__UNKNOWN__																																																											false	false		false	false			false	false	false		false	false	false	false	false	false	false	false	false	false	false	false	false	false	false	false	false	false	false	false	false	false		false		false		false	false	false				false					false	
+RP11-34P13.7		__UNKNOWN__	hg19	1	95907	95907	+	RNA	SNP	A	A	C			__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	NA	NA	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	g.chr1:95907A>C	ENST00000466430.1	-			c.e3+3667T>G			RP11-34P13.8_ENST00000495576.1_5'Flank						__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__								__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__		CATACTGCACAAGGAGGGAAC	0.513715710723192	__UNKNOWN__	__UNKNOWN__								__UNKNOWN__	__UNKNOWN__	__UNKNOWN__																																																											false	false		false	false			false	false	false		false	false	false	false	false	false	false	false	false	false	false	false	false	false	false	false	false	false	false	false	false	false		false		false		false	false	false				false					false	
 RP11-34P13.7		__UNKNOWN__	hg19	1	96431	96431	+	RNA	SNP	T	T	A			__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	NA	NA	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	g.chr1:96431T>A	ENST00000466430.1	-			c.e3+4191A>T									__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__								__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__		GGTGTCTGTGTGGGCTGGGGA	0.4538653366583541	__UNKNOWN__	__UNKNOWN__								__UNKNOWN__	__UNKNOWN__	__UNKNOWN__																																																											false	false		false	false			false	false	false		false	false	false	false	false	false	false	false	false	false	false	false	false	false	false	false	false	false	false	false	false	false		false		false		false	false	false				false					false	
 RP11-34P13.7		__UNKNOWN__	hg19	1	97661	97661	+	RNA	SNP	T	T	C	4317759		__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	NA	NA	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	g.chr1:97661T>C	ENST00000466430.1	-			c.e3+5421A>G									__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__								__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__		AGTTGTAAAATAGATCTTTTA	0.32917705735660846	__UNKNOWN__	__UNKNOWN__								__UNKNOWN__	__UNKNOWN__	__UNKNOWN__																																																											true	false		false	false			false	false	false		false	false	false	false	false	false	false	false	false	false	false	false	false	false	false	false	false	false	false	false	false	false	0	false	0	false		false	false	false	SNV	0x050000000005000002000100	1	false	111	rs4317759		97661	false	
 AL627309.1		__UNKNOWN__	hg19	1	135040	135040	+	3'UTR	SNP	T	T	C	62642130	by1000genomes	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	NA	NA	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	g.chr1:135040T>C	ENST00000423372.3	-	2											__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__								__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__		ACGTGAGGAATGAGCTGGGCC	0.5261845386533666	__UNKNOWN__	__UNKNOWN__								__UNKNOWN__	__UNKNOWN__	__UNKNOWN__																																																											true	false		false	false			false	false	false	LOC729737:729737	false	false	false	true	false	false	false	false	false	false	false	false	false	false	false	false	false	false	false	false	false	false	0	true	0	false		false	false	false	SNV	0x050100000005000016000100	1	false	129	rs62642130		135040	false	
@@ -159,9 +159,9 @@ C1orf170		__UNKNOWN__	hg19	1	911595	911595	+	Missense_Mutation	SNP	A	A	G	7417106
 C1orf170		__UNKNOWN__	hg19	1	914333	914333	+	Missense_Mutation	SNP	C	C	G	13302979	byFrequency;by1000genomes	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	NA	NA	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	g.chr1:914333C>G	ENST00000341290.2	-	3	1771	c.1735G>C	c.(1735-1737)Gag>Cag	p.E579Q	C1orf170_ENST00000433179.2_Missense_Mutation_p.E599Q						__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__								__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__		CCCGCCCCCTCGGAGGCCGAC	0.7032418952618454	__UNKNOWN__	__UNKNOWN__								__UNKNOWN__	__UNKNOWN__	__UNKNOWN__																																																											true	false	0.4437,0.5563	false	false	1		false	true	true	PERM1:84808	true	false	false	true	true	false	false	false	false	false	false	true	false	false	false	false	false	false	false	true	false	false	0	true	0	false	0.526547,0.473453	false	false	false	SNV	0x050100000a0517013e000100	1	false	121	rs13302979		914333	true	
 HES4		__UNKNOWN__	hg19	1	935459	935459	+	5'UTR	SNP	A	A	G	3128113	byFrequency;by1000genomes	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	NA	NA	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	g.chr1:935459A>G	ENST00000304952.6	-	1					HES4_ENST00000428771.2_5'UTR|HES4_ENST00000484667.2_5'Flank|RP11-54O7.17_ENST00000606034.1_5'Flank						__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__								__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__		CCTAGGGCGGATCCCGGCTCC	0.770573566084788	__UNKNOWN__	__UNKNOWN__								__UNKNOWN__	__UNKNOWN__	__UNKNOWN__																																																											true	false	0.3229,0.6771	false	false	1		false	true	true	HES4:57801	true	false	false	true	true	false	false	false	false	false	false	false	false	false	false	false	false	false	false	false	false	false	0	true	0	false	0.394773,0.605227	false	false	true	SNV	0x050100400005170136000100	1	false	103	rs3128113		935459	true	
 HES4		__UNKNOWN__	hg19	1	935492	935492	+	5'UTR	SNP	G	G	T	3121571	byFrequency;by1000genomes	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	NA	NA	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	g.chr1:935492G>T	ENST00000428771.2	-	1					HES4_ENST00000304952.6_5'Flank|HES4_ENST00000484667.2_5'Flank|RP11-54O7.17_ENST00000606034.1_5'Flank						__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__								__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__		GCCTCAGGCCGTTTCCCTATT	0.773067331670823	__UNKNOWN__	__UNKNOWN__								__UNKNOWN__	__UNKNOWN__	__UNKNOWN__																																																											true	false	0.3229,0.6771	false	false	1		false	true	true	HES4:57801	true	false	false	true	true	false	false	false	false	false	false	false	false	false	false	false	false	false	false	false	true	false	0	true	0	false	0.395597,0.604403	false	false	true	SNV	0x050100400005170136000100	1	false	103	rs3121571		935492	true	
-ISG15		__UNKNOWN__	hg19	1	948846	948847	+	5'UTR	INS	-	-	A	3841266	byFrequency;by1000genomes	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	NA	NA	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	g.chr1:948846_948847insA	ENST00000379389.4	+	1											__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__								__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__		CCTCAGGCTTATAATAGGGC	0.6225	__UNKNOWN__	__UNKNOWN__								__UNKNOWN__	__UNKNOWN__	__UNKNOWN__																																																											true	false	0.1456,0.8544	false	false	1		false	true	false	ISG15:9636	true	false	false	true	true	false	false	false	false	false	false	false	false	false	false	false	false	false	true	false	true	false	0	true	0	false		false	false	false	DIV	0x05010002000515013e000200	1	false	107	rs3841266		948846	true	
-ISG15		__UNKNOWN__	hg19	1	948870	948870	+	5'UTR	SNP	C	C	G	4615788	byFrequency;by1000genomes	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	NA	NA	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	g.chr1:948870C>G	ENST00000379389.4	+	1											__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__								__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__		TGCTGCCTGCCGAAGCCGGCG	0.6184538653366584	__UNKNOWN__	__UNKNOWN__								__UNKNOWN__	__UNKNOWN__	__UNKNOWN__																																																											true	false	0.09704,0.903	false	false	1		false	true	false	ISG15:9636	true	true	false	true	true	false	false	false	false	false	false	false	false	false	false	false	false	false	false	false	false	false	0	true	0	false	0.139021,0.860979	false	false	true	SNV	0x05010040000515053e000100	1	false	111	rs4615788		948870	true	
-ISG15		__UNKNOWN__	hg19	1	948921	948921	+	5'UTR	SNP	T	T	C	15842	byFrequency;by1000genomes	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	NA	NA	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	g.chr1:948921T>C	ENST00000379389.4	+	1											__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__								__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__		TACAGGAGCTTGTGCCGTGGC	0.6134663341645885	__UNKNOWN__	__UNKNOWN__								__UNKNOWN__	__UNKNOWN__	__UNKNOWN__																																																											true	false	0.09685,0.9032,.	false	false	1		false	true	false	ISG15:9636	true	true	false	true	true	false	false	false	false	false	false	false	false	false	false	true	true	false	false	false	true	false	0	true	0	false	0.138608,0.861392,.	false	false	true	SNV	0x05012840000515053f000100	1	false	52	rs15842		948921	true	
+ISG15		__UNKNOWN__	hg19	1	948846	948847	+	5'UTR	INS	-	-	A	3841266	byFrequency;by1000genomes	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	NA	NA	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	g.chr1:948846_948847insA	ENST00000379389.4	+	1					RP11-54O7.11_ENST00000458555.1_5'Flank						__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__								__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__		CCTCAGGCTTATAATAGGGC	0.6225	__UNKNOWN__	__UNKNOWN__								__UNKNOWN__	__UNKNOWN__	__UNKNOWN__																																																											true	false	0.1456,0.8544	false	false	1		false	true	false	ISG15:9636	true	false	false	true	true	false	false	false	false	false	false	false	false	false	false	false	false	false	true	false	true	false	0	true	0	false		false	false	false	DIV	0x05010002000515013e000200	1	false	107	rs3841266		948846	true	
+ISG15		__UNKNOWN__	hg19	1	948870	948870	+	5'UTR	SNP	C	C	G	4615788	byFrequency;by1000genomes	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	NA	NA	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	g.chr1:948870C>G	ENST00000379389.4	+	1					RP11-54O7.11_ENST00000458555.1_5'Flank						__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__								__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__		TGCTGCCTGCCGAAGCCGGCG	0.6184538653366584	__UNKNOWN__	__UNKNOWN__								__UNKNOWN__	__UNKNOWN__	__UNKNOWN__																																																											true	false	0.09704,0.903	false	false	1		false	true	false	ISG15:9636	true	true	false	true	true	false	false	false	false	false	false	false	false	false	false	false	false	false	false	false	false	false	0	true	0	false	0.139021,0.860979	false	false	true	SNV	0x05010040000515053e000100	1	false	111	rs4615788		948870	true	
+ISG15		__UNKNOWN__	hg19	1	948921	948921	+	5'UTR	SNP	T	T	C	15842	byFrequency;by1000genomes	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	NA	NA	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	g.chr1:948921T>C	ENST00000379389.4	+	1					RP11-54O7.11_ENST00000458555.1_5'Flank						__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__								__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__		TACAGGAGCTTGTGCCGTGGC	0.6134663341645885	__UNKNOWN__	__UNKNOWN__								__UNKNOWN__	__UNKNOWN__	__UNKNOWN__																																																											true	false	0.09685,0.9032,.	false	false	1		false	true	false	ISG15:9636	true	true	false	true	true	false	false	false	false	false	false	false	false	false	false	true	true	false	false	false	true	false	0	true	0	false	0.138608,0.861392,.	false	false	true	SNV	0x05012840000515053f000100	1	false	52	rs15842		948921	true	
 RNF223		__UNKNOWN__	hg19	1	1009478	1009478	+	5'UTR	SNP	G	G	C	9442367	byFrequency;by1000genomes	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	NA	NA	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	g.chr1:1009478G>C	ENST00000453464.2	-	1											__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__								__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__		CTGCCCTGCCGTGGCAGTGTC	0.6932668329177057	__UNKNOWN__	__UNKNOWN__								__UNKNOWN__	__UNKNOWN__	__UNKNOWN__																																																											true	false	0.1867,0.8133	false	false	1		false	true	true	RNF223:401934	true	false	false	true	true	false	false	false	false	false	false	false	false	false	false	false	false	false	false	false	false	false	0	true	0	false	0.224466,0.775534	false	false	true	SNV	0x05010040000517013e000100	1	false	119	rs9442367		1009478	true	
 C1orf159		__UNKNOWN__	hg19	1	1027070	1027070	+	Intron	SNP	G	G	A	11260590	byFrequency;by1000genomes	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	NA	NA	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	g.chr1:1027070G>A	ENST00000379339.1	-			c.e4+125C>T			C1orf159_ENST00000421241.2_Intron|C1orf159_ENST00000379319.1_Intron|C1orf159_ENST00000379320.1_5'UTR|C1orf159_ENST00000448924.1_Intron|C1orf159_ENST00000294576.5_Intron|C1orf159_ENST00000437760.1_Intron|C1orf159_ENST00000482816.1_Intron						__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__								__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__		GGAGGGCAGAGCCAAATGGAG	0.6708229426433915	__UNKNOWN__	__UNKNOWN__								__UNKNOWN__	__UNKNOWN__	__UNKNOWN__																																																											true	false	0.8105,0.1895	false	false	1		false	true	true	C1orf159:54991	true	false	true	true	true	false	false	false	false	false	false	false	false	false	false	false	false	false	false	false	false	false	0	true	0	false	0.785597,0.214403	false	false	false	SNV	0x050100080005170136000100	1	false	120	rs11260590		1027070	true	
 CPSF3L		__UNKNOWN__	hg19	1	1260009	1260010	+	5'UTR	INS	-	-	C	575875502	byFrequency	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	NA	NA	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	g.chr1:1260009_1260010insC	ENST00000435064.1	-	1					CPSF3L_ENST00000421495.2_5'UTR|CPSF3L_ENST00000450926.2_5'UTR|CPSF3L_ENST00000411962.1_5'UTR|CPSF3L_ENST00000419704.1_5'UTR|CPSF3L_ENST00000545578.1_5'UTR|GLTPD1_ENST00000343938.4_5'Flank|GLTPD1_ENST00000464957.1_5'Flank|CPSF3L_ENST00000540437.1_5'Flank						__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__								__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__		CGCTCCCGGACCCGCGAGGC	0.7625	__UNKNOWN__	__UNKNOWN__								__UNKNOWN__	__UNKNOWN__	__UNKNOWN__																																																											true	false		false	false			false	false	false	CPTP:80772|CPSF3L:54973|GLTPD1:80772	false	false	false	false	false	false	false	false	false	false	false	false	false	false	false	false	false	false	true	false	false	false	0	false	0	false	0.991243,0.00875747	false	false	true	DIV	0x050000420005040002000200	1	false	142	rs575875502		1260009	true	
@@ -171,17 +171,17 @@ MIB2		__UNKNOWN__	hg19	1	1558792	1558792	+	Missense_Mutation	SNP	T	T	C	12755088
 CDK11A		__UNKNOWN__	hg19	1	1640295	1640312	+	In_Frame_Del	DEL	TCCTCCTCC	TCCTCCTCC	-	199942750	by1000genomes	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	NA	NA	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	g.chr1:1640295_1640303delTCCTCCTCC	ENST00000358779.5	-	9	992_1000	c.903_911delGGAGGAGGA	c.(901-912)gaggaggaggaa>gaa	p.EEE302del	CDK11A_ENST00000356200.3_In_Frame_Del_p.EEE278del|CDK11A_ENST00000378633.1_In_Frame_Del_p.EEE315del|CDK11A_ENST00000404249.3_In_Frame_Del_p.EEE312del|CDK11A_ENST00000357760.2_In_Frame_Del_p.EEE311del|CDK11A_ENST00000378638.2_In_Frame_Del_p.EEE278del|CDK11A_ENST00000378635.3_3'UTR|CDK11A_ENST00000495016.1_5'Flank|RP1-283E3.8_ENST00000598846.1_RNA						__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__								__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__		CTCTTCCTCTTCCTCCTCCTCCTCCTCTG	0.5794621026894865	__UNKNOWN__	__UNKNOWN__								__UNKNOWN__	__UNKNOWN__	__UNKNOWN__																																																											true	false		false	false			false	false	false	CDK11A:728642	false	false	false	true	false	false	false	false	false	false	false	false	false	false	false	false	false	false	false	false	false	false	0	false	0	false		false	false	false	DIV	0x05000000000500001e000200	1	false	137	rs199942750		1640295	false	
 NADK		__UNKNOWN__	hg19	1	1684347	1684348	+	In_Frame_Ins	INS	-	-	CCT	150880809|71578334|765479702	byFrequency	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	NA	NA	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	g.chr1:1684347_1684348insCCT	ENST00000344463.4	-	14	1994	c.1771_1772insAGG	c.(1771-1773)ggc>gAGGgc	p.590_591insE	NADK_ENST00000378625.1_In_Frame_Ins_p.590_591insE|NADK_ENST00000341426.5_In_Frame_Ins_p.445_446insE|NADK_ENST00000341991.3_In_Frame_Ins_p.445_446insE|NADK_ENST00000342348.5_In_Frame_Ins_p.413_414insE						__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__								__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__		TTGACCTAGCCCTCCTCCTC	0.5825	__UNKNOWN__	__UNKNOWN__								__UNKNOWN__	__UNKNOWN__	__UNKNOWN__																																																								||	||	||	true|true|true	false|false|false	||	false|false|false	false|false|false	||	||	false|false|false	false|false|false	false|false|false	NADK:65220|NADK:65220|NADK:65220	false|true|false	false|false|false	false|false|false	false|false|false	false|false|false	false|false|false	false|false|false	false|false|false	false|false|false	true|false|false	false|false|false	false|false|false	false|false|false	false|false|false	false|false|false	false|false|false	false|false|false	false|false|false	false|false|false	false|false|false	false|false|false	false|false|false	0|0|0	false|true|false	0|0|0	false|false|false	||	false|false|false	false|false|false	false|false|false	DIV|DIV|DIV	0x05000000000504000e000204|0x050100000005000102000200|0x050000000005000002000200	1|1|1	false|false|false	134|130|144	rs150880809|rs71578334|rs765479702		1684347|1684349|1684350	true|false|false	
 TMEM52		__UNKNOWN__	hg19	1	1850628	1850645	+	In_Frame_Del	DEL	AGCGGCAGG	AGCGGCAGG	-	575852588	byFrequency;by1000genomes	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	NA	NA	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	g.chr1:1850628_1850636delAGCGGCAGG	ENST00000310991.3	-	1	86_94	c.69_77delCCTGCCGCT	c.(67-78)ctcctgccgctg>ctg	p.LPL24del	TMEM52_ENST00000378602.3_5'Flank						__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__								__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__		CACCTGCGGCAGCGGCAGGAGCGGCAGGA	0.7481662591687042	__UNKNOWN__	__UNKNOWN__								__UNKNOWN__	__UNKNOWN__	__UNKNOWN__																																																											true	false	0.641,0.359	false	false	1		false	true	true	TMEM52:339456	false	false	false	false	true	false	false	false	false	false	false	false	false	false	false	false	false	false	false	false	false	false	0	false	0	false		false	false	false	DIV	0x050000000005170026000200	1	false	142	rs575852588		1850628	true	
-MORN1		__UNKNOWN__	hg19	1	2258590	2258591	+	Intron	INS	-	-	ACAC	149761185|61135926	byFrequency;by1000genomes	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	NA	NA	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	g.chr1:2258590_2258591insACAC	ENST00000378531.3	-			c.e13+3008T>GTGTT			AL589739.1_ENST00000600779.1_Frame_Shift_Ins_p.R5fs						__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__								__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__		AGACACAGAAACAGAAACAC	0.4275	__UNKNOWN__	__UNKNOWN__								__UNKNOWN__	__UNKNOWN__	__UNKNOWN__																																																								|	|	|	true|true	false|false	0.2077,0.7921|0.2077,0.7921	false|false	false|false	1|1	|	false|false	true|false	true|false	MORN1:79906|MORN1:79906	false|false	false|false	true|true	false|false	true|false	false|false	false|false	false|false	false|false	false|false	false|false	false|false	false|false	false|false	false|false	false|false	false|false	false|false	false|false	false|false	false|false	false|false	0|0	false|false	0|0	false|false	|	false|false	false|false	false|false	DIV|DIV	0x05000008000517002e000200|0x050000080005000002000200	1|1	false|false	134|129	rs149761185|rs61135926		2258590|2258593	true|false	
-MORN1		__UNKNOWN__	hg19	1	2258627	2258630	+	Intron	DEL	AG	AG	-	144331124	byFrequency;by1000genomes	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	NA	NA	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	g.chr1:2258627_2258628delAG	ENST00000378531.3	-			c.e13+3044CTG>G			AL589739.1_ENST00000600779.1_Frame_Shift_Del_p.R17fs						__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__								__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__		ACAGAGACACAGAGACACAGAA	0.39800995024875624	__UNKNOWN__	__UNKNOWN__								__UNKNOWN__	__UNKNOWN__	__UNKNOWN__																																																											true	false	0.8407,0.1593	false	false	1		false	true	false	MORN1:79906	false	false	true	true	true	false	false	false	false	false	false	false	false	false	false	false	false	false	false	false	false	false	0	false	0	false		false	false	false	DIV	0x05000008000515003e000200	1	false	134	rs144331124		2258627	true	
-MORN1		__UNKNOWN__	hg19	1	2258946	2258947	+	Intron	INS	-	-	A	59142249|397940423	byFrequency;by1000genomes	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	NA	NA	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	g.chr1:2258946_2258947insA	ENST00000378531.3	-			c.e13+3364G>TG			AL589739.1_ENST00000600779.1_Frame_Shift_Ins_p.R123fs						__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__								__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__		AAACAAACACAGAGACACAG	0.5075	__UNKNOWN__	__UNKNOWN__								__UNKNOWN__	__UNKNOWN__	__UNKNOWN__																																																								|	|	|	true|true	false|false	|	false|false	false|false	|	|	false|false	true|false	true|false	MORN1:79906|MORN1:79906	false|false	false|false	true|true	true|false	false|false	false|false	false|false	false|false	false|false	false|false	false|false	false|false	false|false	false|false	false|false	false|false	false|false	false|false	false|false	false|false	false|false	false|false	0|0	false|false	0|0	false|false	0.755924,0.244076|	false|false	false|false	false|false	DIV|DIV	0x05000008000507001e000200|0x050000080005000002000200	1|1	false|false	138|138	rs59142249|rs397940423		2258946|2258947	true|false	
+MORN1		__UNKNOWN__	hg19	1	2258590	2258591	+	Intron	INS	-	-	ACAC	149761185|61135926	byFrequency;by1000genomes	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	NA	NA	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	g.chr1:2258590_2258591insACAC	ENST00000378531.3	-			c.e13+3008T>GTGTT			AL589739.1_ENST00000600779.1_Frame_Shift_Ins_p.R5fs|RP4-713A8.1_ENST00000607720.1_5'Flank						__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__								__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__		AGACACAGAAACAGAAACAC	0.4275	__UNKNOWN__	__UNKNOWN__								__UNKNOWN__	__UNKNOWN__	__UNKNOWN__																																																								|	|	|	true|true	false|false	0.2077,0.7921|0.2077,0.7921	false|false	false|false	1|1	|	false|false	true|false	true|false	MORN1:79906|MORN1:79906	false|false	false|false	true|true	false|false	true|false	false|false	false|false	false|false	false|false	false|false	false|false	false|false	false|false	false|false	false|false	false|false	false|false	false|false	false|false	false|false	false|false	false|false	0|0	false|false	0|0	false|false	|	false|false	false|false	false|false	DIV|DIV	0x05000008000517002e000200|0x050000080005000002000200	1|1	false|false	134|129	rs149761185|rs61135926		2258590|2258593	true|false	
+MORN1		__UNKNOWN__	hg19	1	2258627	2258630	+	Intron	DEL	AG	AG	-	144331124	byFrequency;by1000genomes	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	NA	NA	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	g.chr1:2258627_2258628delAG	ENST00000378531.3	-			c.e13+3044CTG>G			AL589739.1_ENST00000600779.1_Frame_Shift_Del_p.R17fs|RP4-713A8.1_ENST00000607720.1_5'Flank						__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__								__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__		ACAGAGACACAGAGACACAGAA	0.39800995024875624	__UNKNOWN__	__UNKNOWN__								__UNKNOWN__	__UNKNOWN__	__UNKNOWN__																																																											true	false	0.8407,0.1593	false	false	1		false	true	false	MORN1:79906	false	false	true	true	true	false	false	false	false	false	false	false	false	false	false	false	false	false	false	false	false	false	0	false	0	false		false	false	false	DIV	0x05000008000515003e000200	1	false	134	rs144331124		2258627	true	
+MORN1		__UNKNOWN__	hg19	1	2258946	2258947	+	Intron	INS	-	-	A	59142249|397940423	byFrequency;by1000genomes	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	NA	NA	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	g.chr1:2258946_2258947insA	ENST00000378531.3	-			c.e13+3364G>TG			AL589739.1_ENST00000600779.1_Frame_Shift_Ins_p.R123fs|RP4-713A8.1_ENST00000607720.1_5'Flank						__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__								__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__		AAACAAACACAGAGACACAG	0.5075	__UNKNOWN__	__UNKNOWN__								__UNKNOWN__	__UNKNOWN__	__UNKNOWN__																																																								|	|	|	true|true	false|false	|	false|false	false|false	|	|	false|false	true|false	true|false	MORN1:79906|MORN1:79906	false|false	false|false	true|true	true|false	false|false	false|false	false|false	false|false	false|false	false|false	false|false	false|false	false|false	false|false	false|false	false|false	false|false	false|false	false|false	false|false	false|false	false|false	0|0	false|false	0|0	false|false	0.755924,0.244076|	false|false	false|false	false|false	DIV|DIV	0x05000008000507001e000200|0x050000080005000002000200	1|1	false|false	138|138	rs59142249|rs397940423		2258946|2258947	true|false	
 ACTRT2		__UNKNOWN__	hg19	1	2938408	2938413	+	In_Frame_Del	DEL	AGA	AGA	-	4013154	byFrequency;by1000genomes	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	NA	NA	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	g.chr1:2938408_2938410delAGA	ENST00000378404.2	+	1	362_364	c.158_160delAGA	c.(157-162)cagaag>cag	p.K54del							__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__								__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__		GAGGCCAACCAGAAGAAGTACTT	0.5905707196029777	__UNKNOWN__	__UNKNOWN__								__UNKNOWN__	__UNKNOWN__	__UNKNOWN__																																																											true	false	0.8876,0.1124	false	false	1		false	true	false	ACTRT2:140625	false	false	false	true	true	false	false	false	false	false	false	false	false	false	false	false	false	false	false	false	true	false	0	false	0	false	0.890652,0.109348	false	false	false	DIV	0x05000000000515003e000200	1	false	108	rs4013154		2938408	true	
-ESPN		__UNKNOWN__	hg19	1	6509022	6509045	+	In_Frame_Del	DEL	CCACCGCCGCCC	CCACCGCCGCCC	-	548962140	byFrequency;by1000genomes	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	NA	NA	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	g.chr1:6509022_6509033delCCACCGCCGCCC	ENST00000377828.1	+	8	1953_1964	c.1786_1797delCCACCGCCGCCC	c.(1786-1797)ccaccgccgcccdel	p.PPPP596del	ESPN_ENST00000461727.1_In_Frame_Del_p.PPPP30del|ESPN_ENST00000416731.1_In_Frame_Del_p.PPPP30del|ESPN_ENST00000475228.1_Intron						__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__								__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__		CAGGGAGCTGCCACCGCCGCCCCCACCGCCGC	0.7718446601941747	__UNKNOWN__	__UNKNOWN__								__UNKNOWN__	__UNKNOWN__	__UNKNOWN__																																																											true	false	0.9984,0.001597	false	false	0		false	false	false	ESPN:83715	false	false	false	false	true	false	false	false	false	false	false	false	false	false	false	false	false	false	false	false	false	false	0	false	0	false	0.997047,0.0029535	false	false	false	DIV	0x050000000005040026000200	1	false	142	rs548962140		6509022	true	
+ESPN		__UNKNOWN__	hg19	1	6509022	6509045	+	In_Frame_Del	DEL	CCACCGCCGCCC	CCACCGCCGCCC	-	548962140	byFrequency;by1000genomes	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	NA	NA	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	g.chr1:6509022_6509033delCCACCGCCGCCC	ENST00000377828.1	+	8	1953_1964	c.1786_1797delCCACCGCCGCCC	c.(1786-1797)ccaccgccgcccdel	p.PPPP596del	ESPN_ENST00000461727.1_In_Frame_Del_p.PPPP30del|ESPN_ENST00000416731.1_In_Frame_Del_p.PPPP30del|ESPN_ENST00000475228.1_Intron|RP1-202O8.2_ENST00000419034.1_5'Flank						__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__								__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__		CAGGGAGCTGCCACCGCCGCCCCCACCGCCGC	0.7718446601941747	__UNKNOWN__	__UNKNOWN__								__UNKNOWN__	__UNKNOWN__	__UNKNOWN__																																																											true	false	0.9984,0.001597	false	false	0		false	false	false	ESPN:83715	false	false	false	false	true	false	false	false	false	false	false	false	false	false	false	false	false	false	false	false	false	false	0	false	0	false	0.997047,0.0029535	false	false	false	DIV	0x050000000005040026000200	1	false	142	rs548962140		6509022	true	
 UTS2		__UNKNOWN__	hg19	1	7913430	7913430	+	DE_NOVO_START_IN_FRAME	SNP	G	G	A	228648	byFrequency;by1000genomes	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	NA	NA	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	g.chr1:7913430G>A	ENST00000377516.2	-	1					UTS2_ENST00000054668.5_Missense_Mutation_p.T21M|UTS2_ENST00000361696.5_5'Flank						__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__								__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__		GCAAAGAGACGTGGATTTATG	0.3566084788029925	__UNKNOWN__	__UNKNOWN__								__UNKNOWN__	__UNKNOWN__	__UNKNOWN__																																																											true	false	0.5216,0.4784	false	false	1		false	true	true	UTS2:10911	true	true	false	true	true	false	false	false	false	false	false	true	false	false	false	true	true	false	true	true	false	false	0	true	0	false	0.476578,0.523422	false	false	false	SNV	0x050128020a0517053f000101	1	false	79	rs228648		7913430	true	
 PTCHD2		__UNKNOWN__	hg19	1	11593793	11593794	+	Intron	INS	-	-	GCACACACGCAC	113116961	byFrequency;by1000genomes	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	NA	NA	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	g.chr1:11593793_11593794insGCACACACGCAC	ENST00000294484.6	+			c.e18-645T>TGCACACACGCAC			PTCHD2_ENST00000304391.6_5'UTR|PTCHD2_ENST00000389575.3_Intron						__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__								__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__		AGACACGCATGCACACACAC	0.5625	__UNKNOWN__	__UNKNOWN__								__UNKNOWN__	__UNKNOWN__	__UNKNOWN__																																																											true	false	0.2478,0.3878	false	false	1		false	false	false	DISP3:57540|PTCHD2:57540	true	false	true	false	true	false	false	false	false	false	false	false	false	false	false	false	false	false	false	false	false	false	0	true	0	false		false	false	false	DIV	0x05010008000514012e000200	1	false	132	rs113116961		11593793	true	
 FBXO2		__UNKNOWN__	hg19	1	11710779	11710780	+	In_Frame_Ins	INS	-	-	GCG	148874459|538764329	byFrequency;by1000genomes	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	NA	NA	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	g.chr1:11710779_11710780insGCG	ENST00000354287.4	-	2	477	c.134_135insCGC	c.(133-135)gcg>gcCGCg	p.45_46insA	FBXO44_ENST00000251546.4_5'Flank|FBXO44_ENST00000251547.5_5'Flank|FBXO44_ENST00000376760.1_5'Flank|FBXO44_ENST00000376762.4_5'Flank|FBXO44_ENST00000376768.1_5'Flank|FBXO44_ENST00000376770.1_5'Flank						__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__								__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__		GTCCAGGTACGCGGCGGCGG	0.7275	__UNKNOWN__	__UNKNOWN__								__UNKNOWN__	__UNKNOWN__	__UNKNOWN__																																																								|	|	|	true|true	false|false	0.6534,0.3103|0.6534,0.3103	false|false	false|false	1|1	|	false|false	false|true	false|true	FBXO2:26232|FBXO2:26232	false|false	false|false	false|false	false|false	false|true	false|false	false|false	false|false	false|false	false|false	false|false	false|false	false|false	false|false	false|false	false|false	false|false	false|false	false|false	false|false	false|false	false|false	0|0	false|false	0|0	false|false	|	false|false	false|false	false|false	DIV|DIV	0x05000000000504000e000200|0x050000000005170024000200	1|1	false|false	134|142	rs148874459|rs538764329		11710779|11710782	true|true	
-C1orf167		__UNKNOWN__	hg19	1	11844520	11844520	+	Nonsense_Mutation	SNP	C	C	T	41275466	byFrequency;by1000genomes	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	NA	NA	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	g.chr1:11844520C>T	ENST00000433342.1	+	15	3367	c.3367C>T	c.(3367-3369)Cag>Tag	p.Q1123*							__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__								__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__		CCATGAGGCCCAGCAGCAGGC	0.6733167082294265	__UNKNOWN__	__UNKNOWN__								__UNKNOWN__	__UNKNOWN__	__UNKNOWN__																																																											true	false	0.988,0.01198	false	false	1		false	false	false	C1orf167:284498	false	false	false	true	true	false	false	false	false	false	false	false	true	false	false	false	false	false	false	true	false	false	0	false	0	false	0.984683,0.015317	false	false	false	SNV	0x050000000605140036000100	1	false	127	rs41275466		11844520	true	
+C1orf167		__UNKNOWN__	hg19	1	11844520	11844520	+	Nonsense_Mutation	SNP	C	C	T	41275466	byFrequency;by1000genomes	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	NA	NA	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	g.chr1:11844520C>T	ENST00000433342.1	+	15	3367	c.3367C>T	c.(3367-3369)Cag>Tag	p.Q1123*	RP11-56N19.5_ENST00000376620.3_5'Flank						__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__								__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__		CCATGAGGCCCAGCAGCAGGC	0.6733167082294265	__UNKNOWN__	__UNKNOWN__								__UNKNOWN__	__UNKNOWN__	__UNKNOWN__																																																											true	false	0.988,0.01198	false	false	1		false	false	false	C1orf167:284498	false	false	false	true	true	false	false	false	false	false	false	false	true	false	false	false	false	false	false	true	false	false	0	false	0	false	0.984683,0.015317	false	false	false	SNV	0x050000000605140036000100	1	false	127	rs41275466		11844520	true	
 NPPA		__UNKNOWN__	hg19	1	11906068	11906068	+	Nonstop_Mutation	SNP	A	A	G	5065	byFrequency;by1000genomes	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	NA	NA	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	g.chr1:11906068A>G	ENST00000376480.3	-	3	553	c.454T>C	c.(454-456)Tga>Cga	p.*152R	NPPA_ENST00000376476.1_Nonstop_Mutation_p.*102R|NPPA-AS1_ENST00000446542.1_RNA|NPPA-AS1_ENST00000400892.2_RNA						__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__								__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__		TGTTATCTTCAGTACTGCAAA	0.4937655860349127	__UNKNOWN__	__UNKNOWN__								__UNKNOWN__	__UNKNOWN__	__UNKNOWN__																																																											true	false	0.8209,0.1791	false	false	1		false	true	false	NPPA:4878|NPPA-AS1:100379251	true	true	true	true	true	false	false	false	false	false	false	false	false	false	false	true	true	false	false	true	false	false	0	true	0	false	0.737688,0.262312	true	false	false	SNV	0x05013808020515053f000100	1	false	52	rs5065		11906068	true	
-PRAMEF7		__UNKNOWN__	hg19	1	12980232	12980232	+	Silent	SNP	G	G	A	9328937	byFrequency;by1000genomes	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	NA	NA	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	g.chr1:12980232G>A	ENST00000361079.2	+	4	1507	c.1424G>A	c.(1423-1425)tGa>tAa	p.*475*							__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__								__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__		TGCCTCTGTTGAATGCCTGCC	0.5411471321695761	__UNKNOWN__	__UNKNOWN__								__UNKNOWN__	__UNKNOWN__	__UNKNOWN__																																																											true	false		false	false			false	false	false	PRAMEF7:441871	true	true	false	true	false	false	false	false	false	false	false	false	false	false	false	false	false	false	false	true	false	false	0	true	0	true		false	false	false	SNV	0x050100000305040516000100	1	false	119	rs9328937		12980232	true	
+PRAMEF7		__UNKNOWN__	hg19	1	12980232	12980232	+	Silent	SNP	G	G	A	9328937	byFrequency;by1000genomes	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	NA	NA	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	g.chr1:12980232G>A	ENST00000361079.2	+	4	1507	c.1424G>A	c.(1423-1425)tGa>tAa	p.*475*	RNU6-1072P_ENST00000384703.1_5'Flank						__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__								__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__		TGCCTCTGTTGAATGCCTGCC	0.5411471321695761	__UNKNOWN__	__UNKNOWN__								__UNKNOWN__	__UNKNOWN__	__UNKNOWN__																																																											true	false		false	false			false	false	false	PRAMEF7:441871	true	true	false	true	false	false	false	false	false	false	false	false	false	false	false	false	false	false	false	true	false	false	0	true	0	true		false	false	false	SNV	0x050100000305040516000100	1	false	119	rs9328937		12980232	true	
 PRDM2		__UNKNOWN__	hg19	1	14106394	14106395	+	In_Frame_Ins	INS	-	-	CTC	2308040|59028030	byFrequency;by1000genomes	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	NA	NA	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	g.chr1:14106394_14106395insCTC	ENST00000235372.7	+	8	2960	c.2104_2105insCTC	c.(2104-2106)act>aCTCct	p.702_703insP	PRDM2_ENST00000413440.1_In_Frame_Ins_p.501_502insP|PRDM2_ENST00000343137.4_In_Frame_Ins_p.501_502insP|PRDM2_ENST00000376048.5_Intron|PRDM2_ENST00000503842.1_Intron|PRDM2_ENST00000505823.1_Intron|PRDM2_ENST00000311066.5_In_Frame_Ins_p.702_703insP						__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__								__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__		GATAAACTAACTCCTGCAGG	0.4875	__UNKNOWN__	__UNKNOWN__								__UNKNOWN__	__UNKNOWN__	__UNKNOWN__																																																								|	|	|	true|true	false|false	|	false|false	false|false	|	|	false|false	true|false	true|false	PRDM2:7799|PRDM2:7799	true|true	false|false	true|true	true|false	false|false	false|false	false|false	false|false	false|false	false|false	false|false	false|false	false|false	false|false	false|false	false|false	false|false	false|false	false|false	false|false	true|false	false|false	0|0	true|true	0|0	false|false	|	false|false	false|false	false|false	DIV|DIV	0x05010008000507011e000200|0x050100080005000102000200	1|1	false|false	100|138	rs2308040|rs59028030		14106394|14106399	true|false	
 FHAD1		__UNKNOWN__	hg19	1	15714854	15714855	+	Intron	INS	-	-	TCCCTCCCTCCCTCCCTCCT			__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	NA	NA	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	g.chr1:15714854_15714855insTCCCTCCCTCCCTCCCTCCT	ENST00000375998.4	+			c.e29+6165C>CTCCCTCCCTCCCTCCCTCCT			FHAD1_ENST00000358897.4_Intron|FHAD1_ENST00000417793.1_Intron|FHAD1_ENST00000375999.3_Nonstop_Mutation_p.A1448fs|FHAD1_ENST00000314740.8_Intron|FHAD1_ENST00000471347.1_Intron						__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__								__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__		CTGCCCCACCTGCCTGCAGT	0.6025	__UNKNOWN__	__UNKNOWN__								__UNKNOWN__	__UNKNOWN__	__UNKNOWN__																																																											false	false		false	false			false	false	false		false	false	false	false	false	false	false	false	false	false	false	false	false	false	false	false	false	false	false	false	false	false		false		false		false	false	false				false					false	
 CASP9		__UNKNOWN__	hg19	1	15820307	15820308	+	Intron	INS	-	-	C	2234723|397776921	byFrequency;by1000genomes	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	NA	NA	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	g.chr1:15820307_15820308insC	ENST00000333868.5	-			c.e8-80T>GT			CASP9_ENST00000546424.1_Frame_Shift_Ins_p.V413fs|CASP9_ENST00000348549.5_Intron|CASP9_ENST00000375890.4_Intron						__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__								__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__		GCCCTGCTCACCCCAAATCC	0.575	__UNKNOWN__	__UNKNOWN__								__UNKNOWN__	__UNKNOWN__	__UNKNOWN__																																																								|	|	|	true|true	false|false	0.7642,0.2358|0.7642,0.2358	false|false	false|false	1|1	|	false|false	true|false	true|false	CASP9:842|CASP9:842	true|false	false|false	true|true	true|false	true|false	false|false	false|false	false|false	false|false	false|false	true|true	false|false	false|false	false|false	false|false	false|false	false|false	false|false	false|false	true|true	true|false	false|false	0|0	true|false	0|0	false|false	0.700426,0.299574|	false|false	false|false	false|false	DIV|DIV	0x05010008120517013e000201|0x050000081205000002000200	1|1	false|false	98|138	rs2234723|rs397776921		15820307|15820311	true|false	
@@ -203,7 +203,7 @@ PHACTR4		__UNKNOWN__	hg19	1	28800364	28800365	+	Frame_Shift_Ins	INS	-	-	TAATGATA
 PHACTR4		__UNKNOWN__	hg19	1	28800371	28800372	+	Frame_Shift_Del	DEL	T	T	-			__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	NA	NA	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	g.chr1:28800371delT	ENST00000373836.3	+	6	1372	c.1159delT	c.(1159-1161)tccfs	p.S387fs	PHACTR4_ENST00000373839.3_Frame_Shift_Del_p.S377fs|PHACTR4_ENST00000493669.1_Intron						__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__								__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__		GTTTCCACCATCCTTAGATCT	0.5236907730673317	__UNKNOWN__	__UNKNOWN__								__UNKNOWN__	__UNKNOWN__	__UNKNOWN__																																																											false	false		false	false			false	false	false		false	false	false	false	false	false	false	false	false	false	false	false	false	false	false	false	false	false	false	false	false	false		false		false		false	false	false				false					false	
 PHACTR4		__UNKNOWN__	hg19	1	28800375	28800375	+	Nonsense_Mutation	SNP	T	T	G			__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	NA	NA	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	g.chr1:28800375T>G	ENST00000373836.3	+	6	1377	c.1163T>G	c.(1162-1164)tTa>tGa	p.L388*	PHACTR4_ENST00000373839.3_Nonsense_Mutation_p.L378*|PHACTR4_ENST00000493669.1_Intron						__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__								__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__		CCACCATCCTTAGATCTACAC	0.5211970074812967	__UNKNOWN__	__UNKNOWN__								__UNKNOWN__	__UNKNOWN__	__UNKNOWN__																																																											false	false		false	false			false	false	false		false	false	false	false	false	false	false	false	false	false	false	false	false	false	false	false	false	false	false	false	false	false		false		false		false	false	false				false					false	
 SERINC2		__UNKNOWN__	hg19	1	31882582	31882583	+	5'UTR	INS	-	-	GCCTCA	4012494|6143179	byFrequency;by1000genomes	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	NA	NA	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	g.chr1:31882582_31882583insGCCTCA	ENST00000373710.1	+	1					SERINC2_ENST00000373709.3_5'Flank|SERINC2_ENST00000491976.1_5'Flank|SERINC2_ENST00000536384.1_5'Flank|SERINC2_ENST00000536859.1_5'Flank						__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__								__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__		ATAAGGGATGGCCCTGCTCT	0.5025	__UNKNOWN__	__UNKNOWN__								__UNKNOWN__	__UNKNOWN__	__UNKNOWN__																																																								|	|	|	true|true	false|false	0.4065,0.5935|0.4065,0.5935	false|false	false|false	1|1	|	false|false	true|false	true|false	SERINC2:347735|SERINC2:347735	true|true	false|false	false|false	false|false	true|false	false|false	false|false	false|false	false|false	false|false	false|false	false|false	false|false	false|false	false|false	false|false	false|false	false|false	true|true	false|false	true|false	false|false	0|0	true|true	0|0	false|false	|	false|false	false|false	true|true	DIV|DIV	0x05010042000517012e000200|0x050100420005000102000200	1|1	false|false	108|130	rs4012494|rs6143179		31882582|31882585	true|false	
-SERINC2		__UNKNOWN__	hg19	1	31905889	31905890	+	In_Frame_Ins	INS	-	-	CAG	3050461|5773362	byFrequency;by1000genomes	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	NA	NA	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	g.chr1:31905889_31905890insCAG	ENST00000373709.3	+	9	1239	c.1089_1090insCAG	c.(1090-1092)cag>CAGcag	p.363_364insQ	SERINC2_ENST00000373710.1_In_Frame_Ins_p.372_373insQ|SERINC2_ENST00000536384.1_In_Frame_Ins_p.367_368insQ|SERINC2_ENST00000536859.1_In_Frame_Ins_p.367_368insQ|SERINC2_ENST00000491976.1_Intron						__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__								__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__		AGACGCCACACAGCAGCAGC	0.6025	__UNKNOWN__	__UNKNOWN__								__UNKNOWN__	__UNKNOWN__	__UNKNOWN__																																																								|	|	|	true|true	false|false	0.261,0.739|0.261,0.739	false|false	false|false	1|1	|	false|false	true|false	true|false	SERINC2:347735|SERINC2:347735	false|true	false|false	false|false	false|false	true|false	false|false	false|false	false|false	false|false	false|false	false|false	false|false	false|false	false|false	false|false	false|false	false|false	false|false	false|false	false|false	true|false	false|false	0|0	true|true	0|0	false|false	|	false|false	false|false	false|false	DIV|DIV	0x05010000000517002e000200|0x050100000005000102000200	1|1	false|false	102|126	rs3050461|rs5773362		31905889|31905904	true|false	
+SERINC2		__UNKNOWN__	hg19	1	31905889	31905890	+	In_Frame_Ins	INS	-	-	CAG	3050461|5773362	byFrequency;by1000genomes	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	NA	NA	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	g.chr1:31905889_31905890insCAG	ENST00000373709.3	+	9	1239	c.1089_1090insCAG	c.(1090-1092)cag>CAGcag	p.363_364insQ	SERINC2_ENST00000373710.1_In_Frame_Ins_p.372_373insQ|SERINC2_ENST00000536384.1_In_Frame_Ins_p.367_368insQ|SERINC2_ENST00000536859.1_In_Frame_Ins_p.367_368insQ|AC114494.1_ENST00000596131.1_5'Flank|SERINC2_ENST00000491976.1_Intron						__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__								__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__		AGACGCCACACAGCAGCAGC	0.6025	__UNKNOWN__	__UNKNOWN__								__UNKNOWN__	__UNKNOWN__	__UNKNOWN__																																																								|	|	|	true|true	false|false	0.261,0.739|0.261,0.739	false|false	false|false	1|1	|	false|false	true|false	true|false	SERINC2:347735|SERINC2:347735	false|true	false|false	false|false	false|false	true|false	false|false	false|false	false|false	false|false	false|false	false|false	false|false	false|false	false|false	false|false	false|false	false|false	false|false	false|false	false|false	true|false	false|false	0|0	true|true	0|0	false|false	|	false|false	false|false	false|false	DIV|DIV	0x05010000000517002e000200|0x050100000005000102000200	1|1	false|false	102|126	rs3050461|rs5773362		31905889|31905904	true|false	
 C1orf216		__UNKNOWN__	hg19	1	36184975	36184975	+	DE_NOVO_START_OUT_FRAME	SNP	G	G	A	7521021	byFrequency;by1000genomes	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	NA	NA	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	g.chr1:36184975G>A	ENST00000270815.4	-	1					C1orf216_ENST00000503824.1_5'Flank						__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__								__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__		CCTAGATCACGTTCGTTCCCC	0.5461346633416458	__UNKNOWN__	__UNKNOWN__								__UNKNOWN__	__UNKNOWN__	__UNKNOWN__																																																											true	false	0.02416,0.9758	false	false	1		false	true	false	C1orf216:127703	true	true	false	true	true	false	false	false	false	false	false	false	false	false	false	false	false	false	true	false	false	false	0	true	0	false	0.025929,0.974071	false	false	false	SNV	0x05010002000515053f000100	1	false	116	rs7521021		36184975	true	
 MAP7D1		__UNKNOWN__	hg19	1	36643701	36643706	+	In_Frame_Del	DEL	AGA	AGA	-	141305015|3045695	byFrequency;by1000genomes	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	NA	NA	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	g.chr1:36643701_36643703delAGA	ENST00000373151.2	+	9	1822_1824	c.1607_1609delAGA	c.(1606-1611)gagaag>gag	p.K537del	MAP7D1_ENST00000373150.4_In_Frame_Del_p.K505del|MAP7D1_ENST00000316156.4_In_Frame_Del_p.K500del|MAP7D1_ENST00000373148.4_In_Frame_Del_p.K83del						__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__								__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__		GCCAGTAACGAGAAGGAGTCAGC	0.6972704714640199	__UNKNOWN__	__UNKNOWN__								__UNKNOWN__	__UNKNOWN__	__UNKNOWN__																																																								|	|	|	true|true	false|false	0.9355,0.0645|0.9355,0.0645	false|false	false|false	1|1	|	false|false	true|false	false|false	MAP7D1:55700|MAP7D1:55700	false|false	false|false	false|false	true|false	true|false	false|false	false|false	false|false	false|false	false|false	false|false	false|false	false|false	false|false	false|false	false|false	false|false	false|false	false|false	false|false	false|true	false|false	0|0	false|true	0|0	false|false	0.973178,0.0268219|	false|false	false|false	false|false	DIV|DIV	0x05000000000515003e000200|0x050100000005000002000200	1|1	false|false	134|102	rs141305015|rs3045695		36643701|36643703	true|false	
 NT5C1A		__UNKNOWN__	hg19	1	40131838	40131839	+	Frame_Shift_Ins	INS	-	-	C			__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	NA	NA	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	g.chr1:40131838_40131839insC	ENST00000235628.1	-	2	206	c.205_206insG	c.(205-207)cagfs	p.Q69fs							__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__								__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__		GTGTAGATCTGCTGCTCCTC	0.565	__UNKNOWN__	__UNKNOWN__								__UNKNOWN__	__UNKNOWN__	__UNKNOWN__																																																											false	false		false	false			false	false	false		false	false	false	false	false	false	false	false	false	false	false	false	false	false	false	false	false	false	false	false	false	false		false		false		false	false	false				false					false	
@@ -211,39 +211,39 @@ NT5C1A		__UNKNOWN__	hg19	1	40131850	40131851	+	Frame_Shift_Ins	INS	-	-	A			__UNK
 FOXO6		__UNKNOWN__	hg19	1	41847872	41847873	+	Frame_Shift_Ins	INS	-	-	GCCCGCGCCGGGACGCCCGCCTACTTCGGCGGCTGCAAGGGCGGCGCCTACGGCGGGGGCGGGGGCTTCGGGCCGCCGGCGATGGGCGCTCTGCGCCGTCTGCCCATGCAGACCATCCAGGAGAACAAGCAGGCCAGCTTCGTGCCGGCCGCGGCGCCCTTCCGCCCTGGGGCGCTGCCCGCGCTGCTGCCGCCGCCGCC			__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	NA	NA	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	g.chr1:41847872_41847873insGCCCGCGCCGGGACGCCCGCCTACTTCGGCGGCTGCAAGGGCGGCGCCTACGGCGGGGGCGGGGGCTTCGGGCCGCCGGCGATGGGCGCTCTGCGCCGTCTGCCCATGCAGACCATCCAGGAGAACAAGCAGGCCAGCTTCGTGCCGGCCGCGGCGCCCTTCCGCCCTGGGGCGCTGCCCGCGCTGCTGCCGCCGCCGCC	ENST00000372591.1	+	2	1008	c.999_1000insGCCCGCGCCGGGACGCCCGCCTACTTCGGCGGCTGCAAGGGCGGCGCCTACGGCGGGGGCGGGGGCTTCGGGCCGCCGGCGATGGGCGCTCTGCGCCGTCTGCCCATGCAGACCATCCAGGAGAACAAGCAGGCCAGCTTCGTGCCGGCCGCGGCGCCCTTCCGCCCTGGGGCGCTGCCCGCGCTGCTGCCGCCGCCGCC	c.(1000-1002)gccfs	p.Q337fs							__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__								__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__		CGGGCCGCGGGCCCGCGCCC	0.8125	__UNKNOWN__	__UNKNOWN__								__UNKNOWN__	__UNKNOWN__	__UNKNOWN__																																																											false	false		false	false			false	false	false		false	false	false	false	false	false	false	false	false	false	false	false	false	false	false	false	false	false	false	false	false	false		false		false		false	false	false				false					false	
 KLF17		__UNKNOWN__	hg19	1	44596380	44596385	+	In_Frame_Del	DEL	CAA	CAA	-	34057178|200059598	byFrequency;by1000genomes	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	NA	NA	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	g.chr1:44596380_44596382delCAA	ENST00000372299.3	+	3	1179_1181	c.1122_1124delCAA	c.(1120-1125)gccaac>gcc	p.N375del	KLF17_ENST00000476802.1_Intron						__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__								__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__		ACCCACAGGCCAACAACAACAAT	0.5012406947890818	__UNKNOWN__	__UNKNOWN__								__UNKNOWN__	__UNKNOWN__	__UNKNOWN__																																																								|	|	|	true|true	false|false	0.7698,0.2302|0.7698,0.2302	false|false	false|false	1|1	|	false|false	true|false	true|false	KLF17:128209|KLF17:128209	false|false	false|false	false|false	true|false	true|false	false|false	false|false	false|false	false|false	false|false	false|false	false|false	false|false	false|false	false|false	false|false	false|false	false|false	false|false	false|false	false|false	false|false	0|0	false|false	1|0	false|false	0.857614,0.142386|	false|false	false|false	false|false	DIV|DIV	0x05000000000517003e000240|0x050000000005000002000200	1|1	false|false	126|137	rs34057178|rs200059598		44596380|44596388	true|false	
 MOB3C		__UNKNOWN__	hg19	1	47080679	47080679	+	Nonsense_Mutation	SNP	G	G	A	6671527	byFrequency;by1000genomes	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	NA	NA	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	g.chr1:47080679G>A	ENST00000271139.8	-	1	127	c.70C>T	c.(70-72)Cga>Tga	p.R24*	MOB3C_ENST00000371940.1_5'UTR|MOB3C_ENST00000319928.3_Intron|MKNK1_ENST00000545730.1_Intron|MOB3C_ENST00000477318.1_Intron						__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__								__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__		CCGACTCTTCGACTTCTCACC	0.5087281795511222	__UNKNOWN__	__UNKNOWN__								__UNKNOWN__	__UNKNOWN__	__UNKNOWN__																																																											true	false	0.3578,0.6422,.	false	false	1		false	true	false	MOB3C:148932	true	true	true	true	true	false	false	false	false	false	false	true	true	false	false	false	false	false	false	true	false	false	0	true	0	false	0.472526,0.527474,.	false	false	false	SNV	0x050100080e0515053f000101	1	false	116	rs6671527		47080679	true	
-FOXD2		__UNKNOWN__	hg19	1	47904668	47904669	+	In_Frame_Ins	INS	-	-	CCGCAC	3046924|71053113	byFrequency;by1000genomes	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	NA	NA	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	g.chr1:47904668_47904669insCCGCAC	ENST00000334793.5	+	1	2980	c.861_862insCCGCAC	c.(862-864)ccg>CCGCACccg	p.287_288insPH							__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__								__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__		GGCCCCGCATCCGCACCCGC	0.795	__UNKNOWN__	__UNKNOWN__								__UNKNOWN__	__UNKNOWN__	__UNKNOWN__																																																								|	|	|	true|true	false|false	0.03554,0.9645,.|0.03554,0.9645	false|false	false|false	1|1	|	false|false	true|false	false|false	FOXD2:2306|FOXD2:2306	false|true	false|false	false|false	true|false	true|false	false|false	false|false	false|false	false|false	false|false	false|false	false|false	false|false	false|false	false|false	false|false	false|false	false|false	false|false	false|false	true|true	false|false	0|0	true|true	0|0	false|false	|	false|false	false|false	false|false	DIV|DIV	0x05010000000515003e000200|0x050100000005000102000200	1|1	false|false	102|130	rs3046924|rs71053113		47904668|47904686	true|false	
+FOXD2		__UNKNOWN__	hg19	1	47904668	47904669	+	In_Frame_Ins	INS	-	-	CCGCAC	3046924|71053113	byFrequency;by1000genomes	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	NA	NA	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	g.chr1:47904668_47904669insCCGCAC	ENST00000334793.5	+	1	2980	c.861_862insCCGCAC	c.(862-864)ccg>CCGCACccg	p.287_288insPH	FOXD2-AS1_ENST00000445551.1_5'Flank						__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__								__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__		GGCCCCGCATCCGCACCCGC	0.795	__UNKNOWN__	__UNKNOWN__								__UNKNOWN__	__UNKNOWN__	__UNKNOWN__																																																								|	|	|	true|true	false|false	0.03554,0.9645,.|0.03554,0.9645	false|false	false|false	1|1	|	false|false	true|false	false|false	FOXD2:2306|FOXD2:2306	false|true	false|false	false|false	true|false	true|false	false|false	false|false	false|false	false|false	false|false	false|false	false|false	false|false	false|false	false|false	false|false	false|false	false|false	false|false	false|false	true|true	false|false	0|0	true|true	0|0	false|false	|	false|false	false|false	false|false	DIV|DIV	0x05010000000515003e000200|0x050100000005000102000200	1|1	false|false	102|130	rs3046924|rs71053113		47904668|47904686	true|false	
 AL109659.1		__UNKNOWN__	hg19	1	48569478	48569479	+	Frame_Shift_Ins	INS	-	-	TGTG	373596514|879571472	byFrequency;by1000genomes	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	NA	NA	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	g.chr1:48569478_48569479insTGTG	ENST00000601108.1	+	1	173	c.173_174insTGTG	c.(172-174)tctfs	p.I65fs							__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__								__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__		GGTGTGTGTCTGTGTGTGTG	0.465	__UNKNOWN__	__UNKNOWN__								__UNKNOWN__	__UNKNOWN__	__UNKNOWN__																																																								|	|	|	true|true	false|false	0.9379,0.03135,0.03075|0.9379,0.03135,0.03075	false|false	false|false	1|1	|	false|false	false|false	false|false	SKINT1L:391037|SKINT1L:391037	false|false	false|false	true|true	false|false	true|false	false|false	false|false	false|false	false|false	false|false	false|false	false|false	false|false	false|false	false|false	false|false	false|false	false|false	false|false	false|false	false|false	false|false	0|0	false|false	0|0	false|false	|	false|false	false|false	false|false	DIV|DIV	0x050000080005140026000200|0x050000080005000002000200	1|1	false|false	138|149	rs373596514|rs879571472		48569478|48569497	true|false	
 SLC5A9		__UNKNOWN__	hg19	1	48708228	48708228	+	Nonsense_Mutation	SNP	G	G	T	850763	byFrequency;by1000genomes	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	NA	NA	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	g.chr1:48708228G>T	ENST00000438567.2	+	13	1829	c.1777G>T	c.(1777-1779)Gag>Tag	p.E593*	SLC5A9_ENST00000236495.5_Nonsense_Mutation_p.E618*|SLC5A9_ENST00000533824.1_Nonsense_Mutation_p.E614*|SLC5A9_ENST00000471020.1_Intron						__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__								__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__		GCCAGCCGGGGAGTGCCCTGC	0.5835411471321695	__UNKNOWN__	__UNKNOWN__								__UNKNOWN__	__UNKNOWN__	__UNKNOWN__																																																											true	false	0.8862,0.1138	false	false	1		false	true	false	SLC5A9:200010	true	true	false	true	true	false	false	false	false	false	false	false	true	false	false	false	false	false	false	true	true	false	0	true	0	false	0.859228,0.140772	false	false	false	SNV	0x050100000605150537000100	1	false	86	rs850763		48708228	true	
 DMRTA2		__UNKNOWN__	hg19	1	50884774	50884785	+	In_Frame_Del	DEL	CGGCGG	CGGCGG	-	761537995|4027495		__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	NA	NA	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	g.chr1:50884774_50884779delCGGCGG	ENST00000404795.3	-	3	1586_1591	c.1187_1192delCCGCCG	c.(1186-1194)gccgccggg>ggg	p.AA396del	DMRTA2_ENST00000418121.1_In_Frame_Del_p.AA396del						__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__								__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__		CCAGGCCCCCCGGCGGCGGCGGCGGC	0.7807881773399015	__UNKNOWN__	__UNKNOWN__								__UNKNOWN__	__UNKNOWN__	__UNKNOWN__																																																								|	|	|	true|true	false|false	|	false|false	false|false	|	|	false|false	false|false	false|false	DMRTA2:63950|DMRTA2:63950	false|false	false|false	false|false	false|false	false|false	false|false	false|false	false|false	false|false	false|false	false|false	false|false	false|false	false|false	false|false	false|false	false|false	false|false	false|false	false|false	false|false	false|false	0|0	false|false	0|0	false|false	|	false|false	false|false	false|false	DIV|DIV	0x050000000005000002000200|0x050000000005000002000200	1|1	false|false	144|108	rs761537995|rs4027495		50884774|50884792	false|false	
 DMRTA2		__UNKNOWN__	hg19	1	50884775	50884776	+	In_Frame_Ins	INS	-	-	GCA			__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	NA	NA	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	g.chr1:50884775_50884776insGCA	ENST00000404795.3	-	3	1584	c.1190_1191insTGC	c.(1189-1191)gcc>gcTGCc	p.397_398insA	DMRTA2_ENST00000418121.1_In_Frame_Ins_p.397_398insA						__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__								__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__		AGGCCCCCCGGCGGCGGCGG	0.78	__UNKNOWN__	__UNKNOWN__								__UNKNOWN__	__UNKNOWN__	__UNKNOWN__																																																											false	false		false	false			false	false	false		false	false	false	false	false	false	false	false	false	false	false	false	false	false	false	false	false	false	false	false	false	false		false		false		false	false	false				false					false	
-NRD1		__UNKNOWN__	hg19	1	52306064	52306069	+	In_Frame_Del	DEL	TCT	TCT	-	35723519|60220085	byFrequency;by1000genomes	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	NA	NA	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	g.chr1:52306064_52306066delTCT	ENST00000354831.7	-	2	655_657	c.462_464delAGA	c.(460-465)gaagat>gat	p.E154del	NRD1_ENST00000352171.7_In_Frame_Del_p.E154del|NRD1_ENST00000539524.1_In_Frame_Del_p.E22del|NRD1_ENST00000544028.1_In_Frame_Del_p.E22del|NRD1_ENST00000485608.1_Intron						__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__								__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__		TTCATCATCATCTTCTTCTTCTT	0.36476426799007444	__UNKNOWN__	__UNKNOWN__								__UNKNOWN__	__UNKNOWN__	__UNKNOWN__																																																								|	|	|	true|true	false|false	0.4383,0.5617|0.4383,0.5617	false|false	false|false	1|1	|	false|false	true|false	true|false	NRD1:4898|NRDC:4898|NRD1:4898|NRDC:4898	false|true	false|false	false|false	true|false	true|false	false|false	false|false	false|false	false|false	false|false	false|false	false|false	false|false	false|false	false|false	false|false	false|false	false|false	false|false	false|false	false|false	false|false	0|0	false|true	0|0	false|false	|	false|false	false|false	false|false	DIV|DIV	0x05000000000517003e000200|0x050100000005000102000200	1|1	false|false	126|129	rs35723519|rs60220085		52306064|52306075	true|false	
+NRD1		__UNKNOWN__	hg19	1	52306064	52306069	+	In_Frame_Del	DEL	TCT	TCT	-	35723519|60220085	byFrequency;by1000genomes	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	NA	NA	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	g.chr1:52306064_52306066delTCT	ENST00000354831.7	-	2	655_657	c.462_464delAGA	c.(460-465)gaagat>gat	p.E154del	NRD1_ENST00000352171.7_In_Frame_Del_p.E154del|NRD1_ENST00000539524.1_In_Frame_Del_p.E22del|NRD1_ENST00000544028.1_In_Frame_Del_p.E22del|NRD1_ENST00000485608.1_Intron|MIR761_ENST00000390787.1_5'Flank						__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__								__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__		TTCATCATCATCTTCTTCTTCTT	0.36476426799007444	__UNKNOWN__	__UNKNOWN__								__UNKNOWN__	__UNKNOWN__	__UNKNOWN__																																																								|	|	|	true|true	false|false	0.4383,0.5617|0.4383,0.5617	false|false	false|false	1|1	|	false|false	true|false	true|false	NRD1:4898|NRDC:4898|NRD1:4898|NRDC:4898	false|true	false|false	false|false	true|false	true|false	false|false	false|false	false|false	false|false	false|false	false|false	false|false	false|false	false|false	false|false	false|false	false|false	false|false	false|false	false|false	false|false	false|false	0|0	false|true	0|0	false|false	|	false|false	false|false	false|false	DIV|DIV	0x05000000000517003e000200|0x050100000005000102000200	1|1	false|false	126|129	rs35723519|rs60220085		52306064|52306075	true|false	
 DMRTB1		__UNKNOWN__	hg19	1	53925373	53925374	+	In_Frame_Ins	INS	-	-	CCGCCC	575081928|766482978	byFrequency;by1000genomes	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	NA	NA	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	g.chr1:53925373_53925374insCCGCCC	ENST00000371445.3	+	1	302	c.247_248insCCGCCC	c.(247-249)gcc>gCCGCCCcc	p.83_84insAP	DMRTB1_ENST00000463126.1_5'Flank						__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__								__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__		GCTGCGGCCGCCGCCCCCGC	0.7475	__UNKNOWN__	__UNKNOWN__								__UNKNOWN__	__UNKNOWN__	__UNKNOWN__																																																								|	|	|	true|true	false|false	0.8926,0.1074|0.8926,0.1074	false|false	false|false	1|1	|	false|false	true|false	false|false	DMRTB1:63948|DMRTB1:63948	false|false	false|false	false|false	false|false	true|false	false|false	false|false	false|false	false|false	false|false	false|false	false|false	false|false	false|false	false|false	false|false	false|false	false|false	false|false	false|false	false|false	false|false	0|0	false|false	0|0	false|false	|	false|false	false|false	false|false	DIV|DIV	0x050000000005150026000200|0x050000000005000002000200	1|1	false|false	142|144	rs575081928|rs766482978		53925373|53925379	true|false	
 TTC4		__UNKNOWN__	hg19	1	55182300	55182300	+	Missense_Mutation	SNP	T	T	A	1147990	byFrequency;by1000genomes	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	NA	NA	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	g.chr1:55182300T>A	ENST00000371281.3	+	2	226	c.139T>A	c.(139-141)Tcg>Acg	p.S47T	TTC4_ENST00000371284.5_Intron|MROH7-TTC4_ENST00000414150.2_Nonsense_Mutation_p.C1282*						__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__								__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__		CCTATTTATGTCGAGAGCGCC	0.3915211970074813	__UNKNOWN__	__UNKNOWN__								__UNKNOWN__	__UNKNOWN__	__UNKNOWN__																																																											true	false	0.3317,0.6683	false	false	1		false	true	false	TTC4:7268|MROH7-TTC4:100527960	true	true	false	true	true	false	false	false	false	false	false	true	false	false	false	true	true	false	false	true	true	false	0	true	0	false	0.448314,0.551686	false	false	false	SNV	0x050128000a0515053f000101	1	false	87	rs1147990		55182300	true	
 PCSK9		__UNKNOWN__	hg19	1	55505552	55505553	+	In_Frame_Ins	INS	-	-	CTG	45454392|113330492|35574083	byFrequency	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	NA	NA	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	g.chr1:55505552_55505553insCTG	ENST00000302118.5	+	1	332	c.42_43insCTG	c.(43-45)ctg>CTGctg	p.14_15insL	PCSK9_ENST00000452118.2_In_Frame_Ins_p.14_15insL|PCSK9_ENST00000543384.1_5'Flank						__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__								__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__		GCCGCTGCCACTGCTGCTGC	0.7075	__UNKNOWN__	__UNKNOWN__								__UNKNOWN__	__UNKNOWN__	__UNKNOWN__																																																								||	||	||	true|true|true	false|false|false	||	false|false|false	false|false|false	||	||	false|false|false	true|false|false	true|false|false	PCSK9:255738|PCSK9:255738|PCSK9:255738	true|true|true	false|false|false	false|false|false	false|false|false	false|false|false	false|false|true	false|false|false	false|false|false	false|false|false	false|false|false	false|false|false	false|false|false	false|false|false	false|false|false	false|false|false	false|false|true	false|false|true	false|false|false	true|true|true	false|false|false	false|false|false	false|false|false	0|0|1	false|true|true	0|0|0	false|false|false	||	false|false|false	false|false|false	false|false|false	DIV|DIV|DIV	0x050000020005070102000200|0x050100020005000102000200|0x050168020005040102100200	1|1|1	false|false|false	127|132|126	rs45454392|rs113330492|rs35574083		55505554|55505563|55505575	true|false|true	
 AGL		__UNKNOWN__	hg19	1	100327026	100327026	+	Intron	SNP	C	C	T	2307129	byFrequency;by1000genomes	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	NA	NA	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	g.chr1:100327026C>T	ENST00000294724.4	+			c.e3-33C>T			AGL_ENST00000361915.3_Intron|AGL_ENST00000370163.3_Intron|AGL_ENST00000370165.3_Intron|AGL_ENST00000361522.4_DE_NOVO_START_IN_FRAME|AGL_ENST00000361302.3_Intron|AGL_ENST00000370161.2_Intron						__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__								__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__		TTAAGTCCTACGATGAGTTTA	0.32418952618453867	__UNKNOWN__	__UNKNOWN__								__UNKNOWN__	__UNKNOWN__	__UNKNOWN__																																																											true	false	0.7728,0.2272	false	false	1		false	true	true	AGL:178	true	true	true	true	true	false	false	false	false	false	false	false	false	false	false	true	true	false	false	false	true	false	0	true	0	false	0.729068,0.270932	false	false	true	SNV	0x05012848000517053f000100	1	false	100	rs2307129		100327026	true	
 AMY1C		__UNKNOWN__	hg19	1	104293194	104293194	+	Nonsense_Mutation	SNP	C	C	T	938886200		__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	NA	NA	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	g.chr1:104293194C>T	ENST00000370079.3	+	1	167	c.103C>T	c.(103-105)Cga>Tga	p.R35*							__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__								__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__		GTTTGAATGGCGATGGGTTGA	0.3740648379052369	__UNKNOWN__	__UNKNOWN__								__UNKNOWN__	__UNKNOWN__	__UNKNOWN__																																																											true	false		false	false			false	false	false	AMY1C:278	false	false	false	false	false	false	false	false	false	false	false	false	true	false	false	false	false	false	false	true	false	false	0	false	0	false	0.999966,3.4343e-005	false	false	false	SNV	0x050000000605000002000100	1	false	150	rs938886200		104293194	false	
 RAP1A		__UNKNOWN__	hg19	1	112162775	112162775	+	DE_NOVO_START_OUT_FRAME	SNP	C	C	T	113172457	byFrequency;by1000genomes	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	NA	NA	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	g.chr1:112162775C>T	ENST00000545460.1	+	1					RAP1A_ENST00000369709.3_Intron|RAP1A_ENST00000356415.1_Intron|RAP1A_ENST00000436150.2_Intron						__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__								__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__		GAGCCAACCACGCCCGCGGAC	0.7206982543640897	__UNKNOWN__	__UNKNOWN__								__UNKNOWN__	__UNKNOWN__	__UNKNOWN__																																																											true	false	0.8762,0.1238	false	false	1		false	true	false	RAP1A:5906	false	false	true	true	true	false	false	false	false	false	false	false	false	false	false	false	false	false	false	false	false	false	0	true	0	false	0.89546,0.10454	false	false	true	SNV	0x050100480005150036000100	1	false	132	rs113172457		112162775	true	
-AP4B1		__UNKNOWN__	hg19	1	114447565	114447565	+	DE_NOVO_START_OUT_FRAME	SNP	G	G	A	1217397	byFrequency;by1000genomes	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	NA	NA	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	g.chr1:114447565G>A	ENST00000369569.1	-	1					AP4B1_ENST00000256658.4_DE_NOVO_START_OUT_FRAME|AP4B1_ENST00000369566.3_5'Flank|AP4B1_ENST00000369567.1_5'Flank						__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__								__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__		AGGCCCTACCGTCGGCCGGCA	0.6309226932668329	__UNKNOWN__	__UNKNOWN__								__UNKNOWN__	__UNKNOWN__	__UNKNOWN__																																																											true	false	0.6705,0.3295	false	false	1		false	true	false	DCLRE1B:64858|AP4B1:10717	true	true	true	true	true	false	false	false	false	false	false	false	false	false	false	false	false	false	true	false	true	false	0	true	0	false	0.586304,0.413696	false	false	true	SNV	0x0501004a000515053f000101	1	false	87	rs1217397		114447565	true	
+AP4B1		__UNKNOWN__	hg19	1	114447565	114447565	+	DE_NOVO_START_OUT_FRAME	SNP	G	G	A	1217397	byFrequency;by1000genomes	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	NA	NA	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	g.chr1:114447565G>A	ENST00000369569.1	-	1					AP4B1_ENST00000256658.4_DE_NOVO_START_OUT_FRAME|DCLRE1B_ENST00000369563.3_5'Flank|AP4B1_ENST00000369566.3_5'Flank|AP4B1_ENST00000369567.1_5'Flank|DCLRE1B_ENST00000466480.1_5'Flank						__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__								__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__		AGGCCCTACCGTCGGCCGGCA	0.6309226932668329	__UNKNOWN__	__UNKNOWN__								__UNKNOWN__	__UNKNOWN__	__UNKNOWN__																																																											true	false	0.6705,0.3295	false	false	1		false	true	false	DCLRE1B:64858|AP4B1:10717	true	true	true	true	true	false	false	false	false	false	false	false	false	false	false	false	false	false	true	false	true	false	0	true	0	false	0.586304,0.413696	false	false	true	SNV	0x0501004a000515053f000101	1	false	87	rs1217397		114447565	true	
 PPIAL4B		__UNKNOWN__	hg19	1	144364205	144364205	+	DE_NOVO_START_OUT_FRAME	SNP	G	G	A			__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	NA	NA	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	g.chr1:144364205G>A	ENST00000540273.1	-	1					AL592284.1_ENST00000538264.1_Intron						__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__								__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__		TGATGGTGGCGTCTGCAAAGA	0.4114713216957606	__UNKNOWN__	__UNKNOWN__								__UNKNOWN__	__UNKNOWN__	__UNKNOWN__																																																											false	false		false	false			false	false	false		false	false	false	false	false	false	false	false	false	false	false	false	false	false	false	false	false	false	false	false	false	false		false		false		false	false	false				false					false	
 PDE4DIP		__UNKNOWN__	hg19	1	144864277	144864277	+	Nonsense_Mutation	SNP	G	G	A	139257887	byFrequency	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	NA	NA	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	g.chr1:144864277G>A	ENST00000530740.1	-	38	6112	c.6073C>T	c.(6073-6075)Cga>Tga	p.R2025*	PDE4DIP_ENST00000369359.4_Nonsense_Mutation_p.R2076*|PDE4DIP_ENST00000369356.4_Nonsense_Mutation_p.R1940*|PDE4DIP_ENST00000369354.3_Nonsense_Mutation_p.R1940*|PDE4DIP_ENST00000313382.9_Nonsense_Mutation_p.R1834*|RP4-791M13.4_ENST00000532137.1_RNA|PDE4DIP_ENST00000524974.1_Intron						__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__								__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__		AGGTGGGATCGAGAGGACAGC	0.5211970074812967	__UNKNOWN__	__UNKNOWN__								__UNKNOWN__	__UNKNOWN__	__UNKNOWN__																																																											true	false		false	false			false	false	false	PDE4DIP:9659	false	true	false	false	false	false	false	false	false	false	false	true	true	false	false	false	false	false	false	true	false	false	0	true	0	false		false	false	false	SNV	0x050100000e05040402000100	1	false	134	rs139257887		144864277	true	
 PDE4DIP		__UNKNOWN__	hg19	1	144916676	144916676	+	Nonsense_Mutation	SNP	C	C	T	1698683	byFrequency;by1000genomes	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	NA	NA	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	g.chr1:144916676C>T	ENST00000530740.1	-	16	2129	c.2090G>A	c.(2089-2091)tGg>tAg	p.W697*	PDE4DIP_ENST00000479408.2_Nonsense_Mutation_p.W347*|PDE4DIP_ENST00000313431.9_Nonsense_Mutation_p.W723*|PDE4DIP_ENST00000529945.1_Nonsense_Mutation_p.W723*|PDE4DIP_ENST00000369359.4_Nonsense_Mutation_p.W697*|PDE4DIP_ENST00000369356.4_Nonsense_Mutation_p.W560*|PDE4DIP_ENST00000369354.3_Nonsense_Mutation_p.W560*|PDE4DIP_ENST00000313382.9_Nonsense_Mutation_p.W626*|PDE4DIP_ENST00000369351.3_Nonsense_Mutation_p.W560*|PDE4DIP_ENST00000369349.3_Nonsense_Mutation_p.W560*						__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__								__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__		TTCTTTCAGCCACTGGAGGTT	0.40399002493765584	__UNKNOWN__	__UNKNOWN__								__UNKNOWN__	__UNKNOWN__	__UNKNOWN__																																																											true	false		false	false			false	true	true	PDE4DIP:9659	true	false	false	true	false	false	false	false	false	false	false	false	true	false	false	false	false	false	false	true	true	true	0	true	0	false		false	false	false	SNV	0x050300000605070116000100	1	false	89	rs1698683		144916676	true	
 NOTCH2NL		__UNKNOWN__	hg19	1	145273366	145273366	+	Nonsense_Mutation	SNP	C	C	T	140871032	byFrequency	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	NA	NA	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	g.chr1:145273366C>T	ENST00000369340.3	+	4	664	c.220C>T	c.(220-222)Cga>Tga	p.R74*	NOTCH2NL_ENST00000362074.6_Nonsense_Mutation_p.R74*|NOTCH2NL_ENST00000344859.3_Nonsense_Mutation_p.R74*|RP11-458D21.5_ENST00000468030.1_Nonsense_Mutation_p.R74*						__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__								__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__		CTTTGTGTCTCGACCTTGCCT	0.49875311720698257	__UNKNOWN__	__UNKNOWN__								__UNKNOWN__	__UNKNOWN__	__UNKNOWN__																																																											true	false		false	false			false	true	false	NOTCH2NL:388677	false	false	false	false	false	false	false	false	false	false	false	true	true	false	false	false	false	false	false	true	false	true	0	true	0	false		false	false	false	SNV	0x050300000e05050002000100	1	false	134	rs140871032		145273366	true	
-OAZ3		__UNKNOWN__	hg19	1	151736876	151736876	+	DE_NOVO_START_OUT_FRAME	SNP	C	C	T	1568485	byFrequency;by1000genomes	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	NA	NA	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	g.chr1:151736876C>T	ENST00000479764.1	+	1					OAZ3_ENST00000453029.2_Intron|OAZ3_ENST00000321531.5_Intron|OAZ3_ENST00000315067.8_Intron|OAZ3_ENST00000400999.1_5'Flank|OAZ3_ENST00000577465.1_5'Flank|RP11-98D18.3_ENST00000512280.1_RNA						__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__								__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__		TTTCCTCTTACGTATCCAAAG	0.4239401496259352	__UNKNOWN__	__UNKNOWN__								__UNKNOWN__	__UNKNOWN__	__UNKNOWN__																																																											true	false	0.2428,0.7572	false	false	1		false	true	false	OAZ3:51686|MRPL9:65005	true	true	true	true	true	false	false	false	false	false	false	false	false	false	false	false	false	false	true	false	false	false	0	true	0	false	0.335394,0.664606	false	false	false	SNV	0x0501000a000515053f000100	1	false	88	rs1568485		151736876	true	
+OAZ3		__UNKNOWN__	hg19	1	151736876	151736876	+	DE_NOVO_START_OUT_FRAME	SNP	C	C	T	1568485	byFrequency;by1000genomes	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	NA	NA	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	g.chr1:151736876C>T	ENST00000479764.1	+	1					OAZ3_ENST00000453029.2_Intron|OAZ3_ENST00000321531.5_Intron|OAZ3_ENST00000315067.8_Intron|MRPL9_ENST00000368829.3_5'Flank|MRPL9_ENST00000368830.3_5'Flank|OAZ3_ENST00000400999.1_5'Flank|MRPL9_ENST00000467306.1_5'Flank|OAZ3_ENST00000577465.1_5'Flank|RP11-98D18.3_ENST00000512280.1_RNA|RP11-98D18.2_ENST00000420382.1_5'Flank						__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__								__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__		TTTCCTCTTACGTATCCAAAG	0.4239401496259352	__UNKNOWN__	__UNKNOWN__								__UNKNOWN__	__UNKNOWN__	__UNKNOWN__																																																											true	false	0.2428,0.7572	false	false	1		false	true	false	OAZ3:51686|MRPL9:65005	true	true	true	true	true	false	false	false	false	false	false	false	false	false	false	false	false	false	true	false	false	false	0	true	0	false	0.335394,0.664606	false	false	false	SNV	0x0501000a000515053f000100	1	false	88	rs1568485		151736876	true	
 HRNR		__UNKNOWN__	hg19	1	152195729	152195730	+	Translation_Start_Site	DEL	T	T	-	34061715|530205886|397824794	byFrequency;by1000genomes	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	NA	NA	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	g.chr1:152195729delT	ENST00000368801.2	-	2	78	c.1delA			FLG-AS1_ENST00000420707.1_RNA|FLG-AS1_ENST00000593011.1_RNA						__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__								__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__		AGTTTAGGCATTTTTTTTTTT	0.3640897755610973	__UNKNOWN__	__UNKNOWN__								__UNKNOWN__	__UNKNOWN__	__UNKNOWN__																																																								||	||	||	true|true|true	false|false|false	0.07648,0.874|0.07648,0.874|0.07648,0.874	false|false|false	false|false|false	1|1|1	||	false|false|false	false|true|false	false|false|false	HRNR:388697|HRNR:388697|HRNR:388697	true|false|true	false|false|false	false|false|false	false|false|false	false|true|false	false|false|false	false|false|false	false|false|false	false|false|false	false|false|false	true|false|false	false|false|false	false|false|false	false|false|false	false|false|false	false|false|false	false|false|false	false|false|false	false|false|false	true|false|false	false|false|false	false|false|false	0|0|0	true|false|true	0|0|0	false|false|false	||	false|false|false	false|false|false	false|true|true	DIV|DIV|DIV	0x050100001205000102000200|0x050000400005150024000200|0x050100400005000102000200	1|1|1	false|false|false	134|142|138	rs34061715|rs530205886|rs397824794		152195729|152195730|152195739	false|true|false	
 LCE1D		__UNKNOWN__	hg19	1	152770613	152770613	+	Nonstop_Mutation	SNP	T	T	G	41268500	byFrequency;by1000genomes	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	NA	NA	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	g.chr1:152770613T>G	ENST00000326233.6	+	2	386	c.343T>G	c.(343-345)Tga>Gga	p.*115G							__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__								__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__		AGGCTGCTGCTGAAGTGGACC	0.5960099750623441	__UNKNOWN__	__UNKNOWN__								__UNKNOWN__	__UNKNOWN__	__UNKNOWN__																																																											true	false	0.9419,0.05811	false	false	1		false	true	false	LCE1D:353134	false	false	false	true	true	false	false	false	false	false	false	false	false	false	false	true	true	false	false	true	false	false	0	true	0	false		false	false	false	SNV	0x050128000205150036000100	1	false	127	rs41268500		152770613	true	
 SEMA4A		__UNKNOWN__	hg19	1	156124223	156124224	+	5'UTR	INS	-	-	G	551865598	byFrequency;by1000genomes	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	NA	NA	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	g.chr1:156124223_156124224insG	ENST00000368282.1	+	1					SEMA4A_ENST00000368285.3_Intron|SEMA4A_ENST00000355014.2_Intron|SEMA4A_ENST00000368284.1_Intron|SEMA4A_ENST00000368286.2_Intron|SEMA4A_ENST00000487358.1_5'Flank						__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__								__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__		CTGCCCCAATGCCCCACCCC	0.585	__UNKNOWN__	__UNKNOWN__								__UNKNOWN__	__UNKNOWN__	__UNKNOWN__																																																											true	false	0.9992,0.0007987	false	false	0		false	false	false	SEMA4A:64218	false	false	true	false	true	false	false	false	false	false	false	false	false	false	false	false	false	false	false	false	false	false	0	false	0	false	0.998832,0.00116766	false	false	false	DIV	0x050000080005040026000200	1	false	142	rs551865598		156124223	true	
 PAQR6		__UNKNOWN__	hg19	1	156213921	156213921	+	Silent	SNP	C	C	T	7513351	byFrequency;by1000genomes	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	NA	NA	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	g.chr1:156213921C>T	ENST00000292291.5	-	8	1193	c.1034G>A	c.(1033-1035)tGa>tAa	p.*345*	PAQR6_ENST00000335852.1_Missense_Mutation_p.E263K|PAQR6_ENST00000368270.1_Silent_p.*321*|PAQR6_ENST00000540423.1_Silent_p.*342*|PAQR6_ENST00000356983.2_Missense_Mutation_p.E263K|PAQR6_ENST00000492619.1_Intron						__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__								__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__		GATGGGGCCTCACTGTTGTTT	0.6359102244389028	__UNKNOWN__	__UNKNOWN__								__UNKNOWN__	__UNKNOWN__	__UNKNOWN__																																																											true	false	0.7808,0.2192	false	false	1		false	true	true	PAQR6:79957	true	true	false	true	true	false	false	false	false	false	false	true	false	false	false	true	true	false	false	true	false	false	0	true	0	true	0.822275,0.177725	false	false	false	SNV	0x050128000b0517053f000100	1	false	116	rs7513351		156213921	true	
 DARC		__UNKNOWN__	hg19	1	159174123	159174123	+	DE_NOVO_START_OUT_FRAME	SNP	C	C	T	3027012	byFrequency;by1000genomes	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	NA	NA	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	g.chr1:159174123C>T	ENST00000368122.2	+	1					DARC_ENST00000537147.1_DE_NOVO_START_OUT_FRAME|DARC_ENST00000368121.2_5'Flank|CTA-134P22.2_ENST00000609696.1_RNA|CTA-134P22.2_ENST00000415675.2_5'Flank						__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__								__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__		ACACAGCAAACGTACACAGAG	0.5336658354114713	__UNKNOWN__	__UNKNOWN__								__UNKNOWN__	__UNKNOWN__	__UNKNOWN__																																																											true	false	0.9085,0.09145	false	false	1		false	true	false	CADM3-AS1:100131825|ACKR1:2532	true	true	false	true	true	false	false	false	false	false	false	false	false	false	false	false	false	false	true	false	false	false	0	true	0	false	0.887492,0.112508	false	false	true	SNV	0x05010042000515053f000100	1	false	102	rs3027012		159174123	true	
-FCGR3B		__UNKNOWN__	hg19	1	161601097	161601097	+	Intron	SNP	C	C	A	67020125	byFrequency;by1000genomes	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	NA	NA	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	g.chr1:161601097C>A	ENST00000367964.2	-			c.e2+169G>T			FCGR3B_ENST00000294800.3_DE_NOVO_START_OUT_FRAME|FCGR2B_ENST00000403078.3_Intron|FCGR2B_ENST00000367962.4_Intron|FCGR2B_ENST00000367960.5_Intron|FCGR2B_ENST00000428605.2_Intron|FCGR3B_ENST00000531221.1_5'Flank						__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__								__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__		AGGAAAGAGCCTGGAGGCAAG	0.5361596009975063	__UNKNOWN__	__UNKNOWN__								__UNKNOWN__	__UNKNOWN__	__UNKNOWN__																																																											true	false	0.9058,0.09425	false	false	1		false	true	true	FCGR3B:2215	false	true	true	true	true	false	false	false	false	false	false	false	false	false	false	false	false	false	true	false	false	false	0	true	0	false		false	false	true	SNV	0x0501004a000517043e000100	1	false	130	rs67020125		161601097	true	
+FCGR3B		__UNKNOWN__	hg19	1	161601097	161601097	+	Intron	SNP	C	C	A	67020125	byFrequency;by1000genomes	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	NA	NA	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	g.chr1:161601097C>A	ENST00000367964.2	-			c.e2+169G>T			FCGR3B_ENST00000294800.3_DE_NOVO_START_OUT_FRAME|FCGR2B_ENST00000403078.3_Intron|FCGR2B_ENST00000367962.4_Intron|FCGR2B_ENST00000367960.5_Intron|FCGR2B_ENST00000428605.2_Intron|FCGR3B_ENST00000531221.1_5'Flank|FCGR3A_ENST00000540048.1_5'Flank						__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__								__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__		AGGAAAGAGCCTGGAGGCAAG	0.5361596009975063	__UNKNOWN__	__UNKNOWN__								__UNKNOWN__	__UNKNOWN__	__UNKNOWN__																																																											true	false	0.9058,0.09425	false	false	1		false	true	true	FCGR3B:2215	false	true	true	true	true	false	false	false	false	false	false	false	false	false	false	false	false	false	true	false	false	false	0	true	0	false		false	false	true	SNV	0x0501004a000517043e000100	1	false	130	rs67020125		161601097	true	
 POU2F1		__UNKNOWN__	hg19	1	167385325	167385326	+	3'UTR	DEL	A	A	-	34032944|779631157	byFrequency;by1000genomes	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	NA	NA	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	g.chr1:167385325delA	ENST00000367862.5	+	16					POU2F1_ENST00000367866.2_3'UTR|POU2F1_ENST00000420254.3_Nonstop_Mutation_p.K656fs|POU2F1_ENST00000367865.1_Intron						__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__								__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__		ACCAAAAATTAAAAAAAAAAA	0.3266832917705736	__UNKNOWN__	__UNKNOWN__								__UNKNOWN__	__UNKNOWN__	__UNKNOWN__																																																								|	|	|	true|true	false|false	0.3023,0.6977|0.3023,0.6977	false|false	false|false	1|1	|	false|false	true|false	true|false	POU2F1:5451|POU2F1:5451	false|false	false|false	false|false	false|false	true|false	false|false	false|false	false|false	false|false	false|false	false|false	false|false	false|false	false|false	false|false	false|false	false|false	false|false	false|false	false|false	false|false	false|false	0|0	false|false	0|0	false|false	|	false|false	true|true	false|false	DIV|DIV	0x050000800005170026000200|0x050000800005000002000200	1|1	false|false	126|144	rs34032944|rs779631157		167385325|167385326	true|false	
 CFHR3		__UNKNOWN__	hg19	1	196757960	196757960	+	Intron	SNP	G	G	A	116394410	byFrequency;by1000genomes	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	NA	NA	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	g.chr1:196757960G>A	ENST00000367425.4	+			c.e4+432G>A			CFHR3_ENST00000471440.2_Silent_p.*233*|CFHR3_ENST00000391985.3_Intron						__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__								__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__		ATTTCTGCTAGCGTCAGGAGA	0.3765586034912718	__UNKNOWN__	__UNKNOWN__								__UNKNOWN__	__UNKNOWN__	__UNKNOWN__																																																											true	false	0.9952,0.004792	false	false	1		false	false	false	CFHR3:10878	false	true	true	true	true	false	false	false	false	false	false	false	false	false	false	false	false	false	false	true	false	false	0	true	0	true		false	false	false	SNV	0x050100080305040436000100	1	false	132	rs116394410		196757960	true	
 COG2		__UNKNOWN__	hg19	1	230829139	230829139	+	Silent	SNP	A	A	G	1051038	byFrequency;by1000genomes	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	NA	NA	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	g.chr1:230829139A>G	ENST00000366669.4	+	18	2332	c.2217A>G	c.(2215-2217)taA>taG	p.*739*	COG2_ENST00000366668.3_Silent_p.*738*|COG2_ENST00000534989.1_Silent_p.*680*|COG2_ENST00000535166.1_Silent_p.*623*|COG2_ENST00000546013.1_Silent_p.*428*						__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__								__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__		AGCAGCCTTAAGCATCTTGGA	0.4513715710723192	__UNKNOWN__	__UNKNOWN__								__UNKNOWN__	__UNKNOWN__	__UNKNOWN__																																																											true	false	0.6554,0.3446	false	false	1		false	true	true	COG2:22796	true	true	false	true	true	false	false	false	false	false	false	false	false	false	false	true	true	false	false	true	false	false	0	true	0	true	0.75577,0.24423	false	false	false	SNV	0x05012800030517053f000100	1	false	86	rs1051038		230829139	true	
 SH3YL1		__UNKNOWN__	hg19	2	242800	242800	+	Intron	SNP	T	T	C	10181051	byFrequency;by1000genomes	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	NA	NA	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	g.chr2:242800T>C	ENST00000405430.1	-			c.e6-4738A>G			SH3YL1_ENST00000356150.5_Intron|SH3YL1_ENST00000403657.1_START_CODON_SNP_p.M1V|SH3YL1_ENST00000403658.1_START_CODON_SNP_p.M1V|SH3YL1_ENST00000402632.1_Intron|SH3YL1_ENST00000403712.2_Intron|SH3YL1_ENST00000415006.2_START_CODON_SNP_p.M1V|SH3YL1_ENST00000468321.1_Intron						__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__								__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__		AAAGTTACCATTAGATTGACA	0.2967581047381546	__UNKNOWN__	__UNKNOWN__								__UNKNOWN__	__UNKNOWN__	__UNKNOWN__																																																											true	false	0.6745,0.3255,.	false	false	1		false	true	true	SH3YL1:26751	true	true	true	true	true	false	true	false	false	false	false	true	false	false	false	true	true	false	false	true	false	false	0	true	0	false	0.709198,0.290802,.	false	false	false	SNV	0x050128080a0517053f020100	1	false	119	rs10181051		242800	true	
-SH3YL1		__UNKNOWN__	hg19	2	260677	260677	+	Intron	SNP	G	G	A	10188763	byFrequency;by1000genomes	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	NA	NA	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	g.chr2:260677G>A	ENST00000405430.1	-			c.e3-1954C>T			SH3YL1_ENST00000356150.5_Intron|SH3YL1_ENST00000403657.1_DE_NOVO_START_IN_FRAME|SH3YL1_ENST00000402632.1_Intron|SH3YL1_ENST00000403712.2_Intron|SH3YL1_ENST00000403658.1_Intron|SH3YL1_ENST00000468321.1_Intron						__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__								__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__		GGACTTCTTCGTCAAATGGAC	0.43640897755610975	__UNKNOWN__	__UNKNOWN__								__UNKNOWN__	__UNKNOWN__	__UNKNOWN__																																																											true	false	0.6895,0.3105	false	false	1		false	true	true	SH3YL1:26751	true	true	true	true	true	false	false	false	false	false	false	false	false	false	false	false	false	false	false	false	false	false	0	true	0	false	0.737327,0.262673	false	false	false	SNV	0x05010008000517053f000100	1	false	119	rs10188763		260677	true	
-ADI1		__UNKNOWN__	hg19	2	3519572	3519572	+	Intron	SNP	A	A	C	6422707	byFrequency;by1000genomes	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	NA	NA	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	g.chr2:3519572A>C	ENST00000327435.6	-			c.e2+1825T>G			ADI1_ENST00000382093.5_DE_NOVO_START_IN_FRAME						__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__								__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__		CCAGCTGTAAAATTCCTCTCT	0.428927680798005	__UNKNOWN__	__UNKNOWN__								__UNKNOWN__	__UNKNOWN__	__UNKNOWN__																																																											true	false	0.3085,0.6915	false	false	1		false	true	true	ADI1:55256	true	false	true	true	true	false	false	false	false	false	false	false	false	false	false	false	false	false	false	false	false	false	0	true	0	false	0.327621,0.672379	false	false	true	SNV	0x050100480005170136000100	1	false	116	rs6422707		3519572	true	
+SH3YL1		__UNKNOWN__	hg19	2	260677	260677	+	Intron	SNP	G	G	A	10188763	byFrequency;by1000genomes	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	NA	NA	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	g.chr2:260677G>A	ENST00000405430.1	-			c.e3-1954C>T			SH3YL1_ENST00000356150.5_Intron|SH3YL1_ENST00000403657.1_DE_NOVO_START_IN_FRAME|SH3YL1_ENST00000402632.1_Intron|SH3YL1_ENST00000403712.2_Intron|SH3YL1_ENST00000403658.1_Intron|ACP1_ENST00000272065.5_5'Flank|ACP1_ENST00000272067.6_5'Flank|ACP1_ENST00000405233.1_5'Flank|ACP1_ENST00000407983.3_5'Flank|ACP1_ENST00000439645.2_5'Flank|ACP1_ENST00000484464.1_5'Flank|SH3YL1_ENST00000468321.1_Intron						__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__								__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__		GGACTTCTTCGTCAAATGGAC	0.43640897755610975	__UNKNOWN__	__UNKNOWN__								__UNKNOWN__	__UNKNOWN__	__UNKNOWN__																																																											true	false	0.6895,0.3105	false	false	1		false	true	true	SH3YL1:26751	true	true	true	true	true	false	false	false	false	false	false	false	false	false	false	false	false	false	false	false	false	false	0	true	0	false	0.737327,0.262673	false	false	false	SNV	0x05010008000517053f000100	1	false	119	rs10188763		260677	true	
+ADI1		__UNKNOWN__	hg19	2	3519572	3519572	+	Intron	SNP	A	A	C	6422707	byFrequency;by1000genomes	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	NA	NA	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	g.chr2:3519572A>C	ENST00000327435.6	-			c.e2+1825T>G			ADI1_ENST00000382093.5_DE_NOVO_START_IN_FRAME|AC142528.1_ENST00000450917.1_5'Flank						__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__								__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__		CCAGCTGTAAAATTCCTCTCT	0.428927680798005	__UNKNOWN__	__UNKNOWN__								__UNKNOWN__	__UNKNOWN__	__UNKNOWN__																																																											true	false	0.3085,0.6915	false	false	1		false	true	true	ADI1:55256	true	false	true	true	true	false	false	false	false	false	false	false	false	false	false	false	false	false	false	false	false	false	0	true	0	false	0.327621,0.672379	false	false	true	SNV	0x050100480005170136000100	1	false	116	rs6422707		3519572	true	
 C2orf48		__UNKNOWN__	hg19	2	10281514	10281514	+	DE_NOVO_START_IN_FRAME	SNP	C	C	T	17313542	byFrequency;by1000genomes	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	NA	NA	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	g.chr2:10281514C>T	ENST00000381786.3	+	1											__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__								__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__		CACCTAGCTACGCTCACTGAC	0.5785536159600998	__UNKNOWN__	__UNKNOWN__								__UNKNOWN__	__UNKNOWN__	__UNKNOWN__																																																											true	false	0.9497,0.05032	false	false	1		false	true	false	C2orf48:348738	true	true	false	true	true	false	false	false	false	false	false	false	false	false	false	false	false	false	false	false	false	false	0	true	0	false	0.949959,0.0500412	false	false	true	SNV	0x050100400005150537000101	1	false	123	rs17313542		10281514	true	
-LAPTM4A		__UNKNOWN__	hg19	2	20251675	20251675	+	DE_NOVO_START_IN_FRAME	SNP	G	G	C	1513829	byFrequency;by1000genomes	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	NA	NA	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	g.chr2:20251675G>C	ENST00000175091.4	-	1											__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__								__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__		CTATTCCCGAGATGAGACCCG	0.571072319201995	__UNKNOWN__	__UNKNOWN__								__UNKNOWN__	__UNKNOWN__	__UNKNOWN__																																																											true	false	0.4431,0.5569	false	false	1		false	true	true	LAPTM4A:9741	true	true	false	true	true	false	false	false	false	false	false	false	false	false	false	false	false	false	true	false	false	false	0	true	0	false	0.558696,0.441304	false	false	true	SNV	0x05010042000517053f000101	1	false	88	rs1513829		20251675	true	
-RP11-507M3.1		__UNKNOWN__	hg19	2	24395506	24395506	+	Nonstop_Mutation	SNP	T	T	C	889830	byFrequency;by1000genomes	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	NA	NA	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	g.chr2:24395506T>C	ENST00000584973.1	+	7	699	c.610T>C	c.(610-612)Tga>Cga	p.*204R	AC008073.7_ENST00000428344.1_RNA|AC008073.7_ENST00000438414.1_RNA						__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__								__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__		CGGACTCAAGTGATCCTCCCA	0.4688279301745636	__UNKNOWN__	__UNKNOWN__								__UNKNOWN__	__UNKNOWN__	__UNKNOWN__																																																											true	false	0.1865,0.8135	false	false	1		false	true	true	FAM228A:653140	true	false	false	true	true	false	false	false	false	false	false	false	false	false	false	false	false	false	true	false	false	false	0	true	0	false	0.232209,0.767791	false	false	false	SNV	0x050100020005170136000100	1	false	86	rs889830		24395506	true	
+LAPTM4A		__UNKNOWN__	hg19	2	20251675	20251675	+	DE_NOVO_START_IN_FRAME	SNP	G	G	C	1513829	byFrequency;by1000genomes	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	NA	NA	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	g.chr2:20251675G>C	ENST00000175091.4	-	1					RP11-644K8.1_ENST00000452342.2_5'Flank						__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__								__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__		CTATTCCCGAGATGAGACCCG	0.571072319201995	__UNKNOWN__	__UNKNOWN__								__UNKNOWN__	__UNKNOWN__	__UNKNOWN__																																																											true	false	0.4431,0.5569	false	false	1		false	true	true	LAPTM4A:9741	true	true	false	true	true	false	false	false	false	false	false	false	false	false	false	false	false	false	true	false	false	false	0	true	0	false	0.558696,0.441304	false	false	true	SNV	0x05010042000517053f000101	1	false	88	rs1513829		20251675	true	
+FAM228A		__UNKNOWN__	hg19	2	24395506	24395506	+	5'Flank	SNP	T	T	C	889830	byFrequency;by1000genomes	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	NA	NA	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	g.chr2:24395506T>C	ENST00000295150.3	+						RP11-507M3.1_ENST00000584973.1_Nonstop_Mutation_p.*204R|AC008073.7_ENST00000428344.1_RNA|AC008073.7_ENST00000438414.1_RNA						__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__								__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__		CGGACTCAAGTGATCCTCCCA	0.4688279301745636	__UNKNOWN__	__UNKNOWN__								__UNKNOWN__	__UNKNOWN__	__UNKNOWN__																																																											true	false	0.1865,0.8135	false	false	1		false	true	true	FAM228A:653140	true	false	false	true	true	false	false	false	false	false	false	false	false	false	false	false	false	false	true	false	false	false	0	true	0	false	0.232209,0.767791	false	false	false	SNV	0x050100020005170136000100	1	false	86	rs889830		24395506	true	
 HADHB		__UNKNOWN__	hg19	2	26477125	26477126	+	In_Frame_Ins	INS	-	-	ACT	1064793144		__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	NA	NA	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	g.chr2:26477125_26477126insACT	ENST00000317799.5	+	2	107	c.3_4insACT	c.(4-6)act>ACTact	p.1_2insT	HADHB_ENST00000405867.3_In_Frame_Ins_p.1_2insT|HADHB_ENST00000537713.1_In_Frame_Ins_p.1_2insT|HADHB_ENST00000545822.1_5'UTR						__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__								__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__		TTCCAGAATGACTATCTTGA	0.325	__UNKNOWN__	__UNKNOWN__								__UNKNOWN__	__UNKNOWN__	__UNKNOWN__																																																											true	false	0.2905,0.7095	false	false	1		false	false	false	HADHB:3032	false	false	false	false	false	true	false	false	false	false	false	false	false	false	false	true	false	false	false	false	false	false	0	false	0	false		false	false	true	DIV	0x050060400005000002100200	1	false	150	rs1064793144		26477125	false	
 NFU1		__UNKNOWN__	hg19	2	69659126	69659126	+	Missense_Mutation	SNP	A	A	T	4453725	byFrequency;by1000genomes	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	NA	NA	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	g.chr2:69659126A>T	ENST00000410022.2	-	2	280	c.74T>A	c.(73-75)aTg>aAg	p.M25K	NFU1_ENST00000303698.3_START_CODON_SNP_p.M1K|NFU1_ENST00000394305.1_5'UTR|NFU1_ENST00000471185.1_Intron						__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__								__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__		ATTCTTCAACATATGACAGAA	0.32917705735660846	__UNKNOWN__	__UNKNOWN__								__UNKNOWN__	__UNKNOWN__	__UNKNOWN__																																																											true	false	0.6829,0.3171	false	false	1		false	true	true	NFU1:27247	true	true	false	true	true	true	false	false	false	false	false	true	false	false	false	true	false	false	false	true	true	false	1	true	0	false	0.641434,0.358566	false	false	true	SNV	0x050160400a0517053f100100	1	false	111	rs4453725		69659126	true	
 SNRNP27		__UNKNOWN__	hg19	2	70120910	70120911	+	5'UTR	DEL	A	A	-	3214822|397747233	byFrequency;by1000genomes	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	NA	NA	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	g.chr2:70120910delA	ENST00000244227.3	+	1					SNRNP27_ENST00000409116.1_5'Flank|SNRNP27_ENST00000488986.1_5'Flank						__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__								__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__		GGGAAAAATGAAAGCTGTGTT	0.43640897755610975	__UNKNOWN__	__UNKNOWN__								__UNKNOWN__	__UNKNOWN__	__UNKNOWN__																																																								|	|	|	true|true	false|false	0.6222,0.3778|0.6222,0.3778	false|false	false|false	1|1	|	false|false	true|false	true|false	SNRNP27:11017|SNRNP27:11017	true|false	false|false	false|false	true|false	true|false	false|false	false|false	false|false	false|false	false|false	false|false	false|false	false|false	false|false	false|false	false|false	false|false	false|false	true|true	false|false	false|false	false|false	0|0	true|true	0|0	false|false	0.661217,0.338783|	false|false	false|false	false|false	DIV|DIV	0x05010002000517013e000200|0x050100020005000002000200	1|1	false|false	134|138	rs3214822|rs397747233		70120910|70120912	true|false	
@@ -251,7 +251,7 @@ ATP6V1B1		__UNKNOWN__	hg19	2	71163086	71163086	+	START_CODON_SNP	SNP	T	T	C	11681
 TGOLN2		__UNKNOWN__	hg19	2	85549868	85549868	+	Missense_Mutation	SNP	A	A	G	4240199	byFrequency;by1000genomes	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	NA	NA	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	g.chr2:85549868A>G	ENST00000409232.3	-	4	1384	c.1322T>C	c.(1321-1323)cTa>cCa	p.L441P	TGOLN2_ENST00000377386.3_Intron|TGOLN2_ENST00000398263.2_Intron|TGOLN2_ENST00000409015.1_Nonstop_Mutation_p.*455Q|TGOLN2_ENST00000282120.2_Intron						__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__								__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__		GTTAGGACTTAGGGGAAAAAA	0.38902743142144636	__UNKNOWN__	__UNKNOWN__								__UNKNOWN__	__UNKNOWN__	__UNKNOWN__																																																											true	false	0.221,0.779	false	false	1		false	true	false	TGOLN2:10618	true	true	true	true	true	false	false	false	false	false	false	true	true	false	false	false	false	false	false	true	false	false	0	true	0	false	0.29877,0.70123	false	false	false	SNV	0x050100080e0515053e000100	1	false	111	rs4240199		85549868	true	
 CD8B		__UNKNOWN__	hg19	2	87069431	87069431	+	Silent	SNP	C	C	T	4514875	byFrequency;by1000genomes	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	NA	NA	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	g.chr2:87069431C>T	ENST00000390655.6	-	6	691	c.632G>A	c.(631-633)tGa>tAa	p.*211*	CD8B_ENST00000393759.2_Intron|CD8B_ENST00000349455.3_Intron|CD8B_ENST00000331469.2_Intron|CD8B_ENST00000393761.2_Intron						__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__								__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__		ATTCTCTGCTCATTTGTAAAA	0.4239401496259352	__UNKNOWN__	__UNKNOWN__								__UNKNOWN__	__UNKNOWN__	__UNKNOWN__																																																											true	false	0.3055,0.6945	false	false	1		false	true	true	CD8B:926	false	false	true	true	true	false	false	false	false	false	false	false	false	false	false	false	false	false	false	true	false	false	0	true	0	true		false	false	false	SNV	0x050100080305170036000100	1	false	111	rs4514875		87069431	true	
 IGKV1-8		__UNKNOWN__	hg19	2	89292401	89292401	+	DE_NOVO_START_IN_FRAME	SNP	T	T	C	143871003	byFrequency;by1000genomes	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	NA	NA	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	g.chr2:89292401T>C	ENST00000495489.1	-	1											__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__								__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__		CCCTCATGTCTATGCTGTGTC	0.5261845386533666	__UNKNOWN__	__UNKNOWN__								__UNKNOWN__	__UNKNOWN__	__UNKNOWN__																																																											true	false	0.7296,0.2704	false	false	1		false	true	true	LOC101928457:101928457	false	false	true	true	true	false	false	false	false	false	false	false	false	false	false	false	false	false	false	false	false	false	0	true	0	false	0.786293,0.213707	false	false	false	SNV	0x050100080005170036000100	1	false	134	rs143871003		89292401	true	
-UNC50		__UNKNOWN__	hg19	2	99226173	99226173	+	Intron	SNP	T	T	A	1062847	byFrequency;by1000genomes	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	NA	NA	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	g.chr2:99226173T>A	ENST00000357765.2	+			c.e2-46T>A			UNC50_ENST00000409975.1_START_CODON_SNP_p.M1K|UNC50_ENST00000409347.1_START_CODON_SNP_p.M1K						__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__								__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__		GGTAGCCAAATGTTTCTTCAG	0.4763092269326683	__UNKNOWN__	__UNKNOWN__								__UNKNOWN__	__UNKNOWN__	__UNKNOWN__																																																											true	false	0.7143,0.2857	false	false	1		false	true	true	UNC50:25972|COA5:493753	true	true	true	true	true	false	false	false	false	false	false	true	false	false	false	false	false	false	true	true	false	false	0	true	0	false	0.747184,0.252816	false	false	false	SNV	0x0501000a0a0517053f000100	1	false	86	rs1062847		99226173	true	
+UNC50		__UNKNOWN__	hg19	2	99226173	99226173	+	Intron	SNP	T	T	A	1062847	byFrequency;by1000genomes	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	NA	NA	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	g.chr2:99226173T>A	ENST00000357765.2	+			c.e2-46T>A			UNC50_ENST00000409975.1_START_CODON_SNP_p.M1K|UNC50_ENST00000409347.1_START_CODON_SNP_p.M1K|COA5_ENST00000328709.3_5'Flank|COA5_ENST00000409997.1_5'Flank|COA5_ENST00000483527.1_5'Flank						__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__								__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__		GGTAGCCAAATGTTTCTTCAG	0.4763092269326683	__UNKNOWN__	__UNKNOWN__								__UNKNOWN__	__UNKNOWN__	__UNKNOWN__																																																											true	false	0.7143,0.2857	false	false	1		false	true	true	UNC50:25972|COA5:493753	true	true	true	true	true	false	false	false	false	false	false	true	false	false	false	false	false	false	true	true	false	false	0	true	0	false	0.747184,0.252816	false	false	false	SNV	0x0501000a0a0517053f000100	1	false	86	rs1062847		99226173	true	
 HIBCH		__UNKNOWN__	hg19	2	191184475	191184475	+	START_CODON_SNP	SNP	A	A	G	291466	byFrequency;by1000genomes	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	NA	NA	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	g.chr2:191184475A>G	ENST00000359678.5	-	1	297	c.2T>C	c.(1-3)aTg>aCg	p.M1T	HIBCH_ENST00000392332.3_START_CODON_SNP_p.M1T						__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__								__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__		GCGCTGCCCCATCGCCAAACA	0.6633416458852868	__UNKNOWN__	__UNKNOWN__								__UNKNOWN__	__UNKNOWN__	__UNKNOWN__																																																											true	false	0.5683,0.4317	false	false	1		false	true	true	HIBCH:26275	true	true	false	true	true	false	false	false	false	false	false	true	false	false	false	false	false	false	false	true	false	false	0	true	0	false	0.490041,0.509959	false	false	false	SNV	0x050100000a0517053f000101	1	false	79	rs291466		191184475	true	
 BARD1		__UNKNOWN__	hg19	2	215595645	215595645	+	Intron	SNP	C	C	T	16852600	byFrequency;by1000genomes	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	NA	NA	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	g.chr2:215595645C>T	ENST00000260947.4	-			c.e10+413G>A			BARD1_ENST00000432456.1_START_CODON_SNP_p.M1I|BARD1_ENST00000449967.2_Intron						__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__								__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__		CTATACTGCTCATTTTGACAG	0.3740648379052369	__UNKNOWN__	__UNKNOWN__								__UNKNOWN__	__UNKNOWN__	__UNKNOWN__																																																											true	false	0.7246,0.2754	false	false	1		false	true	false	BARD1:580	true	true	true	true	true	false	true	false	false	false	false	false	false	false	false	true	true	false	false	false	false	false	0	true	0	false	0.769661,0.230339	false	false	false	SNV	0x05012808000515053f020100	1	false	123	rs16852600		215595645	true	
 CCDC108		__UNKNOWN__	hg19	2	219903258	219903258	+	Missense_Mutation	SNP	T	T	G	6736922	byFrequency;by1000genomes	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	NA	NA	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	g.chr2:219903258T>G	ENST00000341552.5	-	4	280	c.196A>C	c.(196-198)Atg>Ctg	p.M66L	CCDC108_ENST00000295729.2_START_CODON_SNP_p.M1L|CCDC108_ENST00000409865.3_Missense_Mutation_p.M55L|CCDC108_ENST00000410037.1_START_CODON_SNP_p.M1L|CCDC108_ENST00000441968.1_Missense_Mutation_p.M66L|CCDC108_ENST00000453220.1_Missense_Mutation_p.M66L|CCDC108_ENST00000324264.6_START_CODON_SNP_p.M1L						__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__								__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__		GTGAGCATCATGTCCTTGGGA	0.5885286783042394	__UNKNOWN__	__UNKNOWN__								__UNKNOWN__	__UNKNOWN__	__UNKNOWN__																																																											true	false	0.4105,0.5895	false	false	1		false	true	true	CFAP65:255101|CCDC108:255101	true	true	false	true	true	false	true	false	false	false	false	true	false	false	false	true	false	false	false	true	false	false	0	true	0	false	0.359812,0.640188	false	false	false	SNV	0x050120000a0517053f020100	1	false	116	rs6736922		219903258	true	
diff --git a/src/test/resources/org/broadinstitute/hellbender/tools/funcotator/validationTestData/regressionTestVariantSet2_expected.vcf b/src/test/resources/org/broadinstitute/hellbender/tools/funcotator/validationTestData/regressionTestVariantSet2_expected.vcf
index b7c922723fe..e0733335180 100644
--- a/src/test/resources/org/broadinstitute/hellbender/tools/funcotator/validationTestData/regressionTestVariantSet2_expected.vcf
+++ b/src/test/resources/org/broadinstitute/hellbender/tools/funcotator/validationTestData/regressionTestVariantSet2_expected.vcf
@@ -1,6 +1,6 @@
 ##fileformat=VCFv4.2
 ##Funcotator Version=0.0.5 | Gencode 19 CANONICAL | Achilles 110303 | CGC full_2012_03-15 | ClinVar 12.03.20 | Cosmic 83 | CosmicFusion v83 | CosmicTissue v83 | DNARepairGenes 20171217T214737  | Familial_Cancer_Genes 20110905 | Gencode_XHGNC 75_37 | Gencode_XRefSeq 75_37 | HGNC Nov302017 | Simple_Uniprot 2014_12 | dbSNP 9606_b150
-##GATKCommandLine=<ID=Funcotator,CommandLine="Funcotator  --output /var/folders/kn/f9s03hnn0xgby73plpc89lz0_ns740/T/regressionTestVariantSet2.vcf.funcotator7681262165142296481.vcf --ref-version hg19 --data-sources-path /Users/droazen/src/hellbender/src/test/resources/large/funcotator/funcotator_dataSources/ --output-file-format VCF --variant /Users/droazen/src/hellbender/src/test/resources/org/broadinstitute/hellbender/tools/funcotator/validationTestData/regressionTestVariantSet2.vcf --reference /Users/droazen/src/hellbender/src/test/resources/large/Homo_sapiens_assembly19.fasta.gz --verbosity INFO  --remove-filtered-variants false --transcript-selection-mode CANONICAL --five-prime-flank-size 5000 --three-prime-flank-size 0 --lookahead-cache-bp 100000 --force-b37-to-hg19-reference-contig-conversion false --interval-set-rule UNION --interval-padding 0 --interval-exclusion-padding 0 --interval-merging-rule ALL --read-validation-stringency SILENT --seconds-between-progress-updates 10.0 --disable-sequence-dictionary-validation false --create-output-bam-index true --create-output-bam-md5 false --create-output-variant-index true --create-output-variant-md5 false --lenient false --add-output-sam-program-record true --add-output-vcf-command-line true --cloud-prefetch-buffer 40 --cloud-index-prefetch-buffer -1 --disable-bam-index-caching false --sites-only-vcf-output false --help false --version false --showHidden false --QUIET false --use-jdk-deflater false --use-jdk-inflater false --gcs-max-retries 20 --gcs-project-for-requester-pays  --disable-tool-default-read-filters false",Version=Unavailable-0.0.5,Date="November 15, 2018 1:44:39 PM EST">
+##GATKCommandLine=<ID=Funcotator,CommandLine="Funcotator  --output /var/folders/4p/2b7bzvcx0x7bxvbztmwk__6rkr9cxg/T/regressionTestVariantSet2.vcf.funcotator658966942154059688.vcf --ref-version hg19 --data-sources-path /Users/jonn/Development/gatk/src/test/resources/large/funcotator/funcotator_dataSources/ --output-file-format VCF --variant /Users/jonn/Development/gatk/src/test/resources/org/broadinstitute/hellbender/tools/funcotator/validationTestData/regressionTestVariantSet2.vcf --reference /Users/jonn/Development/gatk/src/test/resources/large/Homo_sapiens_assembly19.fasta.gz --verbosity INFO  --remove-filtered-variants false --transcript-selection-mode CANONICAL --five-prime-flank-size 5000 --three-prime-flank-size 0 --lookahead-cache-bp 100000 --force-b37-to-hg19-reference-contig-conversion false --interval-set-rule UNION --interval-padding 0 --interval-exclusion-padding 0 --interval-merging-rule ALL --read-validation-stringency SILENT --seconds-between-progress-updates 10.0 --disable-sequence-dictionary-validation false --create-output-bam-index true --create-output-bam-md5 false --create-output-variant-index true --create-output-variant-md5 false --lenient false --add-output-sam-program-record true --add-output-vcf-command-line true --cloud-prefetch-buffer 40 --cloud-index-prefetch-buffer -1 --disable-bam-index-caching false --sites-only-vcf-output false --help false --version false --showHidden false --QUIET false --use-jdk-deflater false --use-jdk-inflater false --gcs-max-retries 20 --gcs-project-for-requester-pays  --disable-tool-default-read-filters false",Version=Unavailable-0.0.5,Date="November 16, 2018 12:40:36 PM EST">
 ##INFO=<ID=FUNCOTATION,Number=A,Type=String,Description="Functional annotation from the Funcotator tool.  Funcotation fields are: Gencode_19_hugoSymbol|Gencode_19_ncbiBuild|Gencode_19_chromosome|Gencode_19_start|Gencode_19_end|Gencode_19_variantClassification|Gencode_19_secondaryVariantClassification|Gencode_19_variantType|Gencode_19_refAllele|Gencode_19_tumorSeqAllele1|Gencode_19_tumorSeqAllele2|Gencode_19_genomeChange|Gencode_19_annotationTranscript|Gencode_19_transcriptStrand|Gencode_19_transcriptExon|Gencode_19_transcriptPos|Gencode_19_cDnaChange|Gencode_19_codonChange|Gencode_19_proteinChange|Gencode_19_gcContent|Gencode_19_referenceContext|Gencode_19_otherTranscripts|Achilles_Top_Genes|CGC_Name|CGC_GeneID|CGC_Chr|CGC_Chr_Band|CGC_Cancer_Somatic_Mut|CGC_Cancer_Germline_Mut|CGC_Tumour_Types__(Somatic_Mutations)|CGC_Tumour_Types_(Germline_Mutations)|CGC_Cancer_Syndrome|CGC_Tissue_Type|CGC_Cancer_Molecular_Genetics|CGC_Mutation_Type|CGC_Translocation_Partner|CGC_Other_Germline_Mut|CGC_Other_Syndrome/Disease|ClinVar_HGMD_ID|ClinVar_SYM|ClinVar_TYPE|ClinVar_ASSEMBLY|ClinVar_rs|Cosmic_overlapping_mutations|CosmicFusion_fusion_genes|CosmicFusion_fusion_id|CosmicTissue_total_alterations_in_gene|CosmicTissue_tissue_types_affected|DNARepairGenes_Activity_linked_to_OMIM|DNARepairGenes_Chromosome_location_linked_to_NCBI_MapView|DNARepairGenes_Accession_number_linked_to_NCBI_Entrez|Familial_Cancer_Genes_Syndrome|Familial_Cancer_Genes_Synonym|Familial_Cancer_Genes_Reference|Gencode_XHGNC_hgnc_id|Gencode_XRefSeq_mRNA_id|Gencode_XRefSeq_prot_acc|HGNC_HGNC_ID|HGNC_Approved_Name|HGNC_Status|HGNC_Locus_Type|HGNC_Locus_Group|HGNC_Previous_Symbols|HGNC_Previous_Name|HGNC_Synonyms|HGNC_Name_Synonyms|HGNC_Chromosome|HGNC_Date_Modified|HGNC_Date_Symbol_Changed|HGNC_Date_Name_Changed|HGNC_Accession_Numbers|HGNC_Enzyme_IDs|HGNC_Entrez_Gene_ID|HGNC_Ensembl_Gene_ID|HGNC_Pubmed_IDs|HGNC_RefSeq_IDs|HGNC_Gene_Family_ID|HGNC_Gene_Family_Name|HGNC_CCDS_IDs|HGNC_Vega_ID|HGNC_Entrez_Gene_ID(supplied_by_NCBI)|HGNC_OMIM_ID(supplied_by_OMIM)|HGNC_RefSeq(supplied_by_NCBI)|HGNC_UniProt_ID(supplied_by_UniProt)|HGNC_Ensembl_ID(supplied_by_Ensembl)|HGNC_UCSC_ID(supplied_by_UCSC)|Simple_Uniprot_uniprot_entry_name|Simple_Uniprot_DrugBank|Simple_Uniprot_alt_uniprot_accessions|Simple_Uniprot_uniprot_accession|Simple_Uniprot_GO_Biological_Process|Simple_Uniprot_GO_Cellular_Component|Simple_Uniprot_GO_Molecular_Function|dbSNP_AC|dbSNP_AF|dbSNP_AN|dbSNP_ASP|dbSNP_ASS|dbSNP_CAF|dbSNP_CDA|dbSNP_CFL|dbSNP_COMMON|dbSNP_DP|dbSNP_DSS|dbSNP_G5|dbSNP_G5A|dbSNP_GENEINFO|dbSNP_GNO|dbSNP_HD|dbSNP_INT|dbSNP_KGPhase1|dbSNP_KGPhase3|dbSNP_LSD|dbSNP_MTP|dbSNP_MUT|dbSNP_NOC|dbSNP_NOV|dbSNP_NSF|dbSNP_NSM|dbSNP_NSN|dbSNP_OM|dbSNP_OTH|dbSNP_PM|dbSNP_PMC|dbSNP_R3|dbSNP_R5|dbSNP_REF|dbSNP_RS|dbSNP_RSPOS|dbSNP_RV|dbSNP_S3D|dbSNP_SAO|dbSNP_SLO|dbSNP_SSR|dbSNP_SYN|dbSNP_TOPMED|dbSNP_TPA|dbSNP_U3|dbSNP_U5|dbSNP_VC|dbSNP_VLD|dbSNP_VP|dbSNP_WGT|dbSNP_WTD|dbSNP_dbSNPBuildID|dbSNP_ID">
 ##contig=<ID=1,length=249250621,assembly=b37>
 ##contig=<ID=2,length=243199373,assembly=b37>
@@ -117,14 +117,14 @@ chr1	14599	.	T	A	103.21	PASS	FUNCOTATION=[Unknown|hg19|chr1|14599|14599|IGR||SNP
 chr1	14604	.	A	G	170.78	PASS	FUNCOTATION=[Unknown|hg19|chr1|14604|14604|IGR||SNP|A|A|G|g.chr1:14604A>G|no_transcript|||||||0.6159600997506235|CCCCCTCCCAAGGAAGTAGGT||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||true|false|0.8524_%2C_0.1476|false|false|1||false|true|true|DDX11L1:100287102_%7C_WASH7P:653635|false|false|false|false|true|false|false|false|false|false|false|false|false|false|false|false|false|true|false|false|541940975|14604|false|false|0|false|0|false||false|false|false|SNV|true|0x050000040005170026000100|1|false|142|rs541940975]
 chr1	30548	rs376676075	T	G	76.31	PASS	FUNCOTATION=[Unknown|hg19|chr1|30548|30548|IGR||SNP|T|T|G|g.chr1:30548T>G|no_transcript|||||||0.42144638403990026|TTCCTAACACTCTCTCCCTCT||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||true|false||false|false|||false|true|true|WASH7P:653635_%7C_MIR1302-2:100302278|true|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|true|true|false|62028215|30548|true|false|0|true|0|false||false|false|false|SNV|false|0x050100060005030102000100|1|false|129|rs62028215]
 chr1	69968	.	A	G	44.09	PASS	FUNCOTATION=[OR4F5|hg19|chr1|69968|69968|MISSENSE||SNP|A|A|G|g.chr1:69968A>G|ENST00000335137.3|+|1|878|c.878A>G|c.(877-879)cAg>cGg|p.Q293R|0.35910224438902744|GCAATAAGACAGCTGAGAAAA||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||false|false||false|false|||false|false|false||false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|||false|false||false||false||false|false|false||false|||false||]
-chr1	92638	rs199618747	A	T	241.23	PASS	FUNCOTATION=[RP11-34P13.7|hg19|chr1|92638|92638|LINCRNA||SNP|A|A|T|g.chr1:92638A>T|ENST00000466430.1|-|||c.e3+398T>A|||0.44139650872817954|AACCTCTCCAAACCTCAGTCC||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||true|false||false|false|||false|false|false||true|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|4430272|92638|false|false|0|true|0|false||false|false|false|SNV|false|0x050100000005000102000100|1|false|111|rs4430272]
-chr1	93097	.	C	T	390.35	PASS	FUNCOTATION=[RP11-34P13.7|hg19|chr1|93097|93097|LINCRNA||SNP|C|C|T|g.chr1:93097C>T|ENST00000466430.1|-|||c.e3+857G>A|||0.3316708229426434|TGAACTTCAGCGTCTGGACAA||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||true|false||false|false|||false|false|false||false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|62642102|93097|false|false|0|true|0|false||false|false|false|SNV|false|0x050100000005000002000100|1|false|129|rs62642102]
-chr1	93449	.	A	G	142.26	PASS	FUNCOTATION=[RP11-34P13.7|hg19|chr1|93449|93449|LINCRNA||SNP|A|A|G|g.chr1:93449A>G|ENST00000466430.1|-|||c.e3+1209T>C|||0.33915211970074816|TTAACAGAAAAAGAAAATATG||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||true|false||false|false|||false|false|false||false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|867796198|93449|false|false|0|true|0|false||false|false|false|SNV|false|0x050100000005000002000100|1|false|147|rs867796198]
-chr1	93757	.	C	T	331.41	PASS	FUNCOTATION=[RP11-34P13.7|hg19|chr1|93757|93757|LINCRNA||SNP|C|C|T|g.chr1:93757C>T|ENST00000466430.1|-|||c.e3+1517G>A|||0.4339152119700748|TGTTTTTAGACGGAGTCTTGC||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||true|false||false|false|||false|false|false||false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|867679461|93757|false|false|0|true|0|false||false|false|false|SNV|false|0x050100000005000002000100|1|false|147|rs867679461]
-chr1	94271	rs200715572	C	G	178.71	PASS	FUNCOTATION=[RP11-34P13.7|hg19|chr1|94271|94271|LINCRNA||SNP|C|C|G|g.chr1:94271C>G|ENST00000466430.1|-|||c.e3+2031G>C|||0.4688279301745636|CCTATGGCCGCTGTTAGGATC||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||true|false||false|false|||false|false|false||false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|200715572|94271|false|false|0|false|0|false||false|false|false|SNV|false|0x050000000005000002000100|1|false|137|rs200715572]
-chr1	94570	rs200113991	T	G	26.58	PASS	FUNCOTATION=[RP11-34P13.7|hg19|chr1|94570|94570|LINCRNA||SNP|T|T|G|g.chr1:94570T>G|ENST00000466430.1|-|||c.e3+2330A>C|||0.4763092269326683|CAAGATGGCCTCACTCACAGG||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||true|false||false|false|||false|false|false||false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|200113991|94570|false|false|0|false|0|false||false|false|false|SNV|false|0x050000000005000002000100|1|false|137|rs200113991]
-chr1	94824	.	C	CT	93.67	PASS	FUNCOTATION=[RP11-34P13.7|hg19|chr1|94824|94825|LINCRNA||INS|-|-|T|g.chr1:94824_94825insT|ENST00000466430.1|-|||c.e3+2584G>AG|||0.4325|TTTTCTTTTCTTTTTTTTTT||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||false|false||false|false|||false|false|false||false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|||false|false||false||false||false|false|false||false|||false||]
-chr1	95907	.	A	C	152.58	PASS	FUNCOTATION=[RP11-34P13.7|hg19|chr1|95907|95907|LINCRNA||SNP|A|A|C|g.chr1:95907A>C|ENST00000466430.1|-|||c.e3+3667T>G|||0.513715710723192|CATACTGCACAAGGAGGGAAC||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||false|false||false|false|||false|false|false||false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|||false|false||false||false||false|false|false||false|||false||]
+chr1	92638	rs199618747	A	T	241.23	PASS	FUNCOTATION=[RP11-34P13.7|hg19|chr1|92638|92638|LINCRNA||SNP|A|A|T|g.chr1:92638A>T|ENST00000466430.1|-|||c.e3+398T>A|||0.44139650872817954|AACCTCTCCAAACCTCAGTCC|RP11-34P13.8_ENST00000495576.1_FIVE_PRIME_FLANK|||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||true|false||false|false|||false|false|false||true|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|4430272|92638|false|false|0|true|0|false||false|false|false|SNV|false|0x050100000005000102000100|1|false|111|rs4430272]
+chr1	93097	.	C	T	390.35	PASS	FUNCOTATION=[RP11-34P13.7|hg19|chr1|93097|93097|LINCRNA||SNP|C|C|T|g.chr1:93097C>T|ENST00000466430.1|-|||c.e3+857G>A|||0.3316708229426434|TGAACTTCAGCGTCTGGACAA|RP11-34P13.8_ENST00000495576.1_FIVE_PRIME_FLANK|||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||true|false||false|false|||false|false|false||false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|62642102|93097|false|false|0|true|0|false||false|false|false|SNV|false|0x050100000005000002000100|1|false|129|rs62642102]
+chr1	93449	.	A	G	142.26	PASS	FUNCOTATION=[RP11-34P13.7|hg19|chr1|93449|93449|LINCRNA||SNP|A|A|G|g.chr1:93449A>G|ENST00000466430.1|-|||c.e3+1209T>C|||0.33915211970074816|TTAACAGAAAAAGAAAATATG|RP11-34P13.8_ENST00000495576.1_FIVE_PRIME_FLANK|||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||true|false||false|false|||false|false|false||false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|867796198|93449|false|false|0|true|0|false||false|false|false|SNV|false|0x050100000005000002000100|1|false|147|rs867796198]
+chr1	93757	.	C	T	331.41	PASS	FUNCOTATION=[RP11-34P13.7|hg19|chr1|93757|93757|LINCRNA||SNP|C|C|T|g.chr1:93757C>T|ENST00000466430.1|-|||c.e3+1517G>A|||0.4339152119700748|TGTTTTTAGACGGAGTCTTGC|RP11-34P13.8_ENST00000495576.1_FIVE_PRIME_FLANK|||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||true|false||false|false|||false|false|false||false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|867679461|93757|false|false|0|true|0|false||false|false|false|SNV|false|0x050100000005000002000100|1|false|147|rs867679461]
+chr1	94271	rs200715572	C	G	178.71	PASS	FUNCOTATION=[RP11-34P13.7|hg19|chr1|94271|94271|LINCRNA||SNP|C|C|G|g.chr1:94271C>G|ENST00000466430.1|-|||c.e3+2031G>C|||0.4688279301745636|CCTATGGCCGCTGTTAGGATC|RP11-34P13.8_ENST00000495576.1_FIVE_PRIME_FLANK|||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||true|false||false|false|||false|false|false||false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|200715572|94271|false|false|0|false|0|false||false|false|false|SNV|false|0x050000000005000002000100|1|false|137|rs200715572]
+chr1	94570	rs200113991	T	G	26.58	PASS	FUNCOTATION=[RP11-34P13.7|hg19|chr1|94570|94570|LINCRNA||SNP|T|T|G|g.chr1:94570T>G|ENST00000466430.1|-|||c.e3+2330A>C|||0.4763092269326683|CAAGATGGCCTCACTCACAGG|RP11-34P13.8_ENST00000495576.1_FIVE_PRIME_FLANK|||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||true|false||false|false|||false|false|false||false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|200113991|94570|false|false|0|false|0|false||false|false|false|SNV|false|0x050000000005000002000100|1|false|137|rs200113991]
+chr1	94824	.	C	CT	93.67	PASS	FUNCOTATION=[RP11-34P13.7|hg19|chr1|94824|94825|LINCRNA||INS|-|-|T|g.chr1:94824_94825insT|ENST00000466430.1|-|||c.e3+2584G>AG|||0.4325|TTTTCTTTTCTTTTTTTTTT|RP11-34P13.8_ENST00000495576.1_FIVE_PRIME_FLANK|||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||false|false||false|false|||false|false|false||false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|||false|false||false||false||false|false|false||false|||false||]
+chr1	95907	.	A	C	152.58	PASS	FUNCOTATION=[RP11-34P13.7|hg19|chr1|95907|95907|LINCRNA||SNP|A|A|C|g.chr1:95907A>C|ENST00000466430.1|-|||c.e3+3667T>G|||0.513715710723192|CATACTGCACAAGGAGGGAAC|RP11-34P13.8_ENST00000495576.1_FIVE_PRIME_FLANK|||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||false|false||false|false|||false|false|false||false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|||false|false||false||false||false|false|false||false|||false||]
 chr1	96431	.	T	A	31.31	PASS	FUNCOTATION=[RP11-34P13.7|hg19|chr1|96431|96431|LINCRNA||SNP|T|T|A|g.chr1:96431T>A|ENST00000466430.1|-|||c.e3+4191A>T|||0.4538653366583541|GGTGTCTGTGTGGGCTGGGGA||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||false|false||false|false|||false|false|false||false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|||false|false||false||false||false|false|false||false|||false||]
 chr1	97661	rs200930721	T	C	27.30	PASS	FUNCOTATION=[RP11-34P13.7|hg19|chr1|97661|97661|LINCRNA||SNP|T|T|C|g.chr1:97661T>C|ENST00000466430.1|-|||c.e3+5421A>G|||0.32917705735660846|AGTTGTAAAATAGATCTTTTA||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||true|false||false|false|||false|false|false||false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|4317759|97661|false|false|0|false|0|false||false|false|false|SNV|false|0x050000000005000002000100|1|false|111|rs4317759]
 chr1	135040	rs141523926	T	C	561.12	PASS	FUNCOTATION=[AL627309.1|hg19|chr1|135040|135040|THREE_PRIME_UTR||SNP|T|T|C|g.chr1:135040T>C|ENST00000423372.3|-|2|||||0.5261845386533666|ACGTGAGGAATGAGCTGGGCC||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||true|false||false|false|||false|false|false|LOC729737:729737|false|false|false|true|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|62642130|135040|false|false|0|true|0|false||false|false|false|SNV|false|0x050100000005000016000100|1|false|129|rs62642130]
@@ -158,9 +158,9 @@ chr1	911595	rs7417106	A	G	2958.89	PASS	FUNCOTATION=[C1orf170|hg19|chr1|911595|91
 chr1	914333	rs13302979	C	G	3769.69	PASS	FUNCOTATION=[C1orf170|hg19|chr1|914333|914333|MISSENSE||SNP|C|C|G|g.chr1:914333C>G|ENST00000341290.2|-|3|1771|c.1735G>C|c.(1735-1737)Gag>Cag|p.E579Q|0.7032418952618454|CCCGCCCCCTCGGAGGCCGAC|C1orf170_ENST00000433179.2_MISSENSE_p.E599Q|||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||true|false|0.4437_%2C_0.5563|false|false|1||false|true|true|PERM1:84808|true|false|false|true|true|false|false|false|false|false|false|true|false|false|false|false|false|false|false|true|13302979|914333|false|false|0|true|0|false|0.526547_%2C_0.473453|false|false|false|SNV|true|0x050100000a0517013e000100|1|false|121|rs13302979]
 chr1	935459	rs3128113	A	G	2299.94	PASS	FUNCOTATION=[HES4|hg19|chr1|935459|935459|FIVE_PRIME_UTR||SNP|A|A|G|g.chr1:935459A>G|ENST00000304952.6|-|1|||||0.770573566084788|CCTAGGGCGGATCCCGGCTCC|HES4_ENST00000428771.2_FIVE_PRIME_UTR/HES4_ENST00000484667.2_FIVE_PRIME_FLANK/RP11-54O7.17_ENST00000606034.1_FIVE_PRIME_FLANK|||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||true|false|0.3229_%2C_0.6771|false|false|1||false|true|true|HES4:57801|true|false|false|true|true|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|3128113|935459|false|false|0|true|0|false|0.394773_%2C_0.605227|false|false|true|SNV|true|0x050100400005170136000100|1|false|103|rs3128113]
 chr1	935492	rs3121571	G	T	2300.94	PASS	FUNCOTATION=[HES4|hg19|chr1|935492|935492|FIVE_PRIME_UTR||SNP|G|G|T|g.chr1:935492G>T|ENST00000428771.2|-|1|||||0.773067331670823|GCCTCAGGCCGTTTCCCTATT|HES4_ENST00000304952.6_FIVE_PRIME_FLANK/HES4_ENST00000484667.2_FIVE_PRIME_FLANK/RP11-54O7.17_ENST00000606034.1_FIVE_PRIME_FLANK|||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||true|false|0.3229_%2C_0.6771|false|false|1||false|true|true|HES4:57801|true|false|false|true|true|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|3121571|935492|true|false|0|true|0|false|0.395597_%2C_0.604403|false|false|true|SNV|true|0x050100400005170136000100|1|false|103|rs3121571]
-chr1	948846	rs3841266	T	TA	4675.73	PASS	FUNCOTATION=[ISG15|hg19|chr1|948846|948847|FIVE_PRIME_UTR||INS|-|-|A|g.chr1:948846_948847insA|ENST00000379389.4|+|1|||||0.6225|CCTCAGGCTTATAATAGGGC||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||true|false|0.1456_%2C_0.8544|false|false|1||false|true|false|ISG15:9636|true|false|false|true|true|false|false|false|false|false|false|false|false|false|false|false|false|false|true|false|3841266|948846|true|false|0|true|0|false||false|false|false|DIV|true|0x05010002000515013e000200|1|false|107|rs3841266]
-chr1	948870	rs4615788	C	G	4296.69	PASS	FUNCOTATION=[ISG15|hg19|chr1|948870|948870|FIVE_PRIME_UTR||SNP|C|C|G|g.chr1:948870C>G|ENST00000379389.4|+|1|||||0.6184538653366584|TGCTGCCTGCCGAAGCCGGCG||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||true|false|0.09704_%2C_0.903|false|false|1||false|true|false|ISG15:9636|true|true|false|true|true|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|4615788|948870|false|false|0|true|0|false|0.139021_%2C_0.860979|false|false|true|SNV|true|0x05010040000515053e000100|1|false|111|rs4615788]
-chr1	948921	rs15842	T	C	3295.69	PASS	FUNCOTATION=[ISG15|hg19|chr1|948921|948921|FIVE_PRIME_UTR||SNP|T|T|C|g.chr1:948921T>C|ENST00000379389.4|+|1|||||0.6134663341645885|TACAGGAGCTTGTGCCGTGGC||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||true|false|0.09685_%2C_0.9032_%2C_.|false|false|1||false|true|false|ISG15:9636|true|true|false|true|true|false|false|false|false|false|false|false|false|false|false|true|true|false|false|false|15842|948921|true|false|0|true|0|false|0.138608_%2C_0.861392_%2C_.|false|false|true|SNV|true|0x05012840000515053f000100|1|false|52|rs15842]
+chr1	948846	rs3841266	T	TA	4675.73	PASS	FUNCOTATION=[ISG15|hg19|chr1|948846|948847|FIVE_PRIME_UTR||INS|-|-|A|g.chr1:948846_948847insA|ENST00000379389.4|+|1|||||0.6225|CCTCAGGCTTATAATAGGGC|RP11-54O7.11_ENST00000458555.1_FIVE_PRIME_FLANK|||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||true|false|0.1456_%2C_0.8544|false|false|1||false|true|false|ISG15:9636|true|false|false|true|true|false|false|false|false|false|false|false|false|false|false|false|false|false|true|false|3841266|948846|true|false|0|true|0|false||false|false|false|DIV|true|0x05010002000515013e000200|1|false|107|rs3841266]
+chr1	948870	rs4615788	C	G	4296.69	PASS	FUNCOTATION=[ISG15|hg19|chr1|948870|948870|FIVE_PRIME_UTR||SNP|C|C|G|g.chr1:948870C>G|ENST00000379389.4|+|1|||||0.6184538653366584|TGCTGCCTGCCGAAGCCGGCG|RP11-54O7.11_ENST00000458555.1_FIVE_PRIME_FLANK|||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||true|false|0.09704_%2C_0.903|false|false|1||false|true|false|ISG15:9636|true|true|false|true|true|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|4615788|948870|false|false|0|true|0|false|0.139021_%2C_0.860979|false|false|true|SNV|true|0x05010040000515053e000100|1|false|111|rs4615788]
+chr1	948921	rs15842	T	C	3295.69	PASS	FUNCOTATION=[ISG15|hg19|chr1|948921|948921|FIVE_PRIME_UTR||SNP|T|T|C|g.chr1:948921T>C|ENST00000379389.4|+|1|||||0.6134663341645885|TACAGGAGCTTGTGCCGTGGC|RP11-54O7.11_ENST00000458555.1_FIVE_PRIME_FLANK|||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||true|false|0.09685_%2C_0.9032_%2C_.|false|false|1||false|true|false|ISG15:9636|true|true|false|true|true|false|false|false|false|false|false|false|false|false|false|true|true|false|false|false|15842|948921|true|false|0|true|0|false|0.138608_%2C_0.861392_%2C_.|false|false|true|SNV|true|0x05012840000515053f000100|1|false|52|rs15842]
 chr1	1009478	rs9442367	G	C	2779.69	PASS	FUNCOTATION=[RNF223|hg19|chr1|1009478|1009478|FIVE_PRIME_UTR||SNP|G|G|C|g.chr1:1009478G>C|ENST00000453464.2|-|1|||||0.6932668329177057|CTGCCCTGCCGTGGCAGTGTC||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||true|false|0.1867_%2C_0.8133|false|false|1||false|true|true|RNF223:401934|true|false|false|true|true|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|9442367|1009478|false|false|0|true|0|false|0.224466_%2C_0.775534|false|false|true|SNV|true|0x05010040000517013e000100|1|false|119|rs9442367]
 chr1	1027070	rs11260590	G	A	184.25	PASS	FUNCOTATION=[C1orf159|hg19|chr1|1027070|1027070|INTRON||SNP|G|G|A|g.chr1:1027070G>A|ENST00000379339.1|-|||c.e4+125C>T|||0.6708229426433915|GGAGGGCAGAGCCAAATGGAG|C1orf159_ENST00000421241.2_INTRON/C1orf159_ENST00000379319.1_INTRON/C1orf159_ENST00000379320.1_FIVE_PRIME_UTR/C1orf159_ENST00000448924.1_INTRON/C1orf159_ENST00000294576.5_INTRON/C1orf159_ENST00000437760.1_INTRON/C1orf159_ENST00000482816.1_INTRON|||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||true|false|0.8105_%2C_0.1895|false|false|1||false|true|true|C1orf159:54991|true|false|true|true|true|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|11260590|1027070|false|false|0|true|0|false|0.785597_%2C_0.214403|false|false|false|SNV|true|0x050100080005170136000100|1|false|120|rs11260590]
 chr1	1260009	.	A	AC	290.29	PASS	FUNCOTATION=[CPSF3L|hg19|chr1|1260009|1260010|FIVE_PRIME_UTR||INS|-|-|C|g.chr1:1260009_1260010insC|ENST00000435064.1|-|1|||||0.7625|CGCTCCCGGACCCGCGAGGC|CPSF3L_ENST00000421495.2_FIVE_PRIME_UTR/CPSF3L_ENST00000450926.2_FIVE_PRIME_UTR/CPSF3L_ENST00000411962.1_FIVE_PRIME_UTR/CPSF3L_ENST00000419704.1_FIVE_PRIME_UTR/CPSF3L_ENST00000545578.1_FIVE_PRIME_UTR/GLTPD1_ENST00000343938.4_FIVE_PRIME_FLANK/GLTPD1_ENST00000464957.1_FIVE_PRIME_FLANK/CPSF3L_ENST00000540437.1_FIVE_PRIME_FLANK|||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||true|false||false|false|||false|false|false|CPTP:80772_%7C_CPSF3L:54973_%7C_GLTPD1:80772|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|true|false|575875502|1260009|false|false|0|false|0|false|0.991243_%2C_0.00875747|false|false|true|DIV|true|0x050000420005040002000200|1|false|142|rs575875502]
@@ -170,17 +170,17 @@ chr1	1558792	rs12755088	T	C	3564.69	PASS	FUNCOTATION=[MIB2|hg19|chr1|1558792|155
 chr1	1640294	rs199942750	TTCCTCCTCC	T	679.91	PASS	FUNCOTATION=[CDK11A|hg19|chr1|1640295|1640303|IN_FRAME_DEL||DEL|TCCTCCTCC|TCCTCCTCC|-|g.chr1:1640295_1640303delTCCTCCTCC|ENST00000358779.5|-|9|992_1000|c.903_911delGGAGGAGGA|c.(901-912)gaggaggaggaa>gaa|p.EEE302del|0.5794621026894865|CTCTTCCTCTTCCTCCTCCTCCTCCTCTG|CDK11A_ENST00000356200.3_IN_FRAME_DEL_p.EEE278del/CDK11A_ENST00000378633.1_IN_FRAME_DEL_p.EEE315del/CDK11A_ENST00000404249.3_IN_FRAME_DEL_p.EEE312del/CDK11A_ENST00000357760.2_IN_FRAME_DEL_p.EEE311del/CDK11A_ENST00000378638.2_IN_FRAME_DEL_p.EEE278del/CDK11A_ENST00000378635.3_THREE_PRIME_UTR/CDK11A_ENST00000495016.1_FIVE_PRIME_FLANK/RP1-283E3.8_ENST00000598846.1_RNA|||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||true|false||false|false|||false|false|false|CDK11A:728642|false|false|false|true|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|199942750|1640295|false|false|0|false|0|false||false|false|false|DIV|false|0x05000000000500001e000200|1|false|137|rs199942750]
 chr1	1684347	rs150880809	C	CCCT	1136.16	PASS	FUNCOTATION=[NADK|hg19|chr1|1684347|1684348|IN_FRAME_INS||INS|-|-|CCT|g.chr1:1684347_1684348insCCT|ENST00000344463.4|-|14|1994|c.1771_1772insAGG|c.(1771-1773)ggc>gAGGgc|p.590_591insE|0.5825|TTGACCTAGCCCTCCTCCTC|NADK_ENST00000378625.1_IN_FRAME_INS_p.590_591insE/NADK_ENST00000341426.5_IN_FRAME_INS_p.445_446insE/NADK_ENST00000341991.3_IN_FRAME_INS_p.445_446insE/NADK_ENST00000342348.5_IN_FRAME_INS_p.413_414insE||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||false_%7C_false_%7C_false|false_%7C_false_%7C_false|0_%7C_0_%7C_0|false_%7C_false_%7C_false|false_%7C_false_%7C_false|false_%7C_false_%7C_false|false_%7C_false_%7C_false|false_%7C_false_%7C_false|134_%7C_130_%7C_144|false_%7C_false_%7C_false|false_%7C_false_%7C_false|false_%7C_false_%7C_false|1_%7C_1_%7C_1|false_%7C_false_%7C_false|_%7C__%7C_|NADK:65220_%7C_NADK:65220_%7C_NADK:65220|false_%7C_false_%7C_false|_%7C__%7C_|false_%7C_false_%7C_false|false_%7C_true_%7C_false|false_%7C_false_%7C_false|false_%7C_false_%7C_false|false_%7C_false_%7C_false|false_%7C_false_%7C_false|false_%7C_false_%7C_false|_%7C__%7C_|false_%7C_false_%7C_false|false_%7C_false_%7C_false|_%7C__%7C_|150880809_%7C_71578334_%7C_765479702|false_%7C_false_%7C_false|false_%7C_false_%7C_false|0x05000000000504000e000204_%7C_0x050100000005000102000200_%7C_0x050000000005000002000200|false_%7C_false_%7C_false|true_%7C_false_%7C_false|1684347_%7C_1684349_%7C_1684350|0_%7C_0_%7C_0|false_%7C_false_%7C_false|false_%7C_false_%7C_false|false_%7C_false_%7C_false|false_%7C_false_%7C_false|_%7C__%7C_|false_%7C_true_%7C_false|false_%7C_false_%7C_false|_%7C__%7C_|false_%7C_false_%7C_false|true_%7C_false_%7C_false|rs150880809_%7C_rs71578334_%7C_rs765479702|true_%7C_true_%7C_true|false_%7C_false_%7C_false|_%7C__%7C_|DIV_%7C_DIV_%7C_DIV|false_%7C_false_%7C_false]
 chr1	1850627	.	CAGCGGCAGG	C	711.12	PASS	FUNCOTATION=[TMEM52|hg19|chr1|1850628|1850636|IN_FRAME_DEL||DEL|AGCGGCAGG|AGCGGCAGG|-|g.chr1:1850628_1850636delAGCGGCAGG|ENST00000310991.3|-|1|86_94|c.69_77delCCTGCCGCT|c.(67-78)ctcctgccgctg>ctg|p.LPL24del|0.7481662591687042|CACCTGCGGCAGCGGCAGGAGCGGCAGGA|TMEM52_ENST00000378602.3_FIVE_PRIME_FLANK|||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||true|false|0.641_%2C_0.359|false|false|1||false|true|true|TMEM52:339456|false|false|false|false|true|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|575852588|1850628|false|false|0|false|0|false||false|false|false|DIV|true|0x050000000005170026000200|1|false|142|rs575852588]
-chr1	2258590	rs149761185	A	AACAC	660.88	PASS	FUNCOTATION=[MORN1|hg19|chr1|2258590|2258591|INTRON||INS|-|-|ACAC|g.chr1:2258590_2258591insACAC|ENST00000378531.3|-|||c.e13+3008T>GTGTT|||0.4275|AGACACAGAAACAGAAACAC|AL589739.1_ENST00000600779.1_FRAME_SHIFT_INS_p.R5fs||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||false_%7C_false|false_%7C_false|0_%7C_0|false_%7C_false|false_%7C_false|false_%7C_false|false_%7C_false|true_%7C_false|134_%7C_129|false_%7C_false|false_%7C_false|1_%7C_1|false_%7C_false|false_%7C_false|MORN1:79906_%7C_MORN1:79906|_%7C_|false_%7C_false|1_%7C_1|false_%7C_false|false_%7C_false|false_%7C_false|false_%7C_false|false_%7C_false|false_%7C_false|false_%7C_false|_%7C_|false_%7C_false|false_%7C_false|0.2077_%2C_0.7921_%7C_0.2077_%2C_0.7921|149761185_%7C_61135926|false_%7C_false|false_%7C_false|0x05000008000517002e000200_%7C_0x050000080005000002000200|true_%7C_false|false_%7C_false|2258590_%7C_2258593|0_%7C_0|false_%7C_false|true_%7C_false|false_%7C_false|false_%7C_false|false_%7C_false|_%7C_|false_%7C_false|true_%7C_true|_%7C_|true_%7C_false|rs149761185_%7C_rs61135926|true_%7C_true|false_%7C_false|DIV_%7C_DIV|_%7C_|false_%7C_false]
-chr1	2258626	rs144331124	CAG	C	138.25	PASS	FUNCOTATION=[MORN1|hg19|chr1|2258627|2258628|INTRON||DEL|AG|AG|-|g.chr1:2258627_2258628delAG|ENST00000378531.3|-|||c.e13+3044CTG>G|||0.39800995024875624|ACAGAGACACAGAGACACAGAA|AL589739.1_ENST00000600779.1_FRAME_SHIFT_DEL_p.R17fs|||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||true|false|0.8407_%2C_0.1593|false|false|1||false|true|false|MORN1:79906|false|false|true|true|true|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|144331124|2258627|false|false|0|false|0|false||false|false|false|DIV|true|0x05000008000515003e000200|1|false|134|rs144331124]
-chr1	2258946	rs59142249	C	CA	326.29	PASS	FUNCOTATION=[MORN1|hg19|chr1|2258946|2258947|INTRON||INS|-|-|A|g.chr1:2258946_2258947insA|ENST00000378531.3|-|||c.e13+3364G>TG|||0.5075|AAACAAACACAGAGACACAG|AL589739.1_ENST00000600779.1_FRAME_SHIFT_INS_p.R123fs||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||false_%7C_false|false_%7C_false|0_%7C_0|false_%7C_false|false_%7C_false|false_%7C_false|true_%7C_false|false_%7C_false|138_%7C_138|false_%7C_false|false_%7C_false|1_%7C_1|false_%7C_false|false_%7C_false|MORN1:79906_%7C_MORN1:79906|_%7C_|false_%7C_false|_%7C_|false_%7C_false|false_%7C_false|false_%7C_false|false_%7C_false|false_%7C_false|false_%7C_false|false_%7C_false|0.755924_%2C_0.244076_%7C_|false_%7C_false|false_%7C_false|_%7C_|59142249_%7C_397940423|false_%7C_false|false_%7C_false|0x05000008000507001e000200_%7C_0x050000080005000002000200|true_%7C_false|false_%7C_false|2258946_%7C_2258947|0_%7C_0|false_%7C_false|true_%7C_false|false_%7C_false|false_%7C_false|false_%7C_false|_%7C_|false_%7C_false|true_%7C_true|_%7C_|true_%7C_false|rs59142249_%7C_rs397940423|true_%7C_true|false_%7C_false|DIV_%7C_DIV|_%7C_|false_%7C_false]
+chr1	2258590	rs149761185	A	AACAC	660.88	PASS	FUNCOTATION=[MORN1|hg19|chr1|2258590|2258591|INTRON||INS|-|-|ACAC|g.chr1:2258590_2258591insACAC|ENST00000378531.3|-|||c.e13+3008T>GTGTT|||0.4275|AGACACAGAAACAGAAACAC|AL589739.1_ENST00000600779.1_FRAME_SHIFT_INS_p.R5fs/RP4-713A8.1_ENST00000607720.1_FIVE_PRIME_FLANK||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||false_%7C_false|false_%7C_false|0_%7C_0|false_%7C_false|false_%7C_false|false_%7C_false|false_%7C_false|true_%7C_false|134_%7C_129|false_%7C_false|false_%7C_false|1_%7C_1|false_%7C_false|false_%7C_false|MORN1:79906_%7C_MORN1:79906|_%7C_|false_%7C_false|1_%7C_1|false_%7C_false|false_%7C_false|false_%7C_false|false_%7C_false|false_%7C_false|false_%7C_false|false_%7C_false|_%7C_|false_%7C_false|false_%7C_false|0.2077_%2C_0.7921_%7C_0.2077_%2C_0.7921|149761185_%7C_61135926|false_%7C_false|false_%7C_false|0x05000008000517002e000200_%7C_0x050000080005000002000200|true_%7C_false|false_%7C_false|2258590_%7C_2258593|0_%7C_0|false_%7C_false|true_%7C_false|false_%7C_false|false_%7C_false|false_%7C_false|_%7C_|false_%7C_false|true_%7C_true|_%7C_|true_%7C_false|rs149761185_%7C_rs61135926|true_%7C_true|false_%7C_false|DIV_%7C_DIV|_%7C_|false_%7C_false]
+chr1	2258626	rs144331124	CAG	C	138.25	PASS	FUNCOTATION=[MORN1|hg19|chr1|2258627|2258628|INTRON||DEL|AG|AG|-|g.chr1:2258627_2258628delAG|ENST00000378531.3|-|||c.e13+3044CTG>G|||0.39800995024875624|ACAGAGACACAGAGACACAGAA|AL589739.1_ENST00000600779.1_FRAME_SHIFT_DEL_p.R17fs/RP4-713A8.1_ENST00000607720.1_FIVE_PRIME_FLANK|||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||true|false|0.8407_%2C_0.1593|false|false|1||false|true|false|MORN1:79906|false|false|true|true|true|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|144331124|2258627|false|false|0|false|0|false||false|false|false|DIV|true|0x05000008000515003e000200|1|false|134|rs144331124]
+chr1	2258946	rs59142249	C	CA	326.29	PASS	FUNCOTATION=[MORN1|hg19|chr1|2258946|2258947|INTRON||INS|-|-|A|g.chr1:2258946_2258947insA|ENST00000378531.3|-|||c.e13+3364G>TG|||0.5075|AAACAAACACAGAGACACAG|AL589739.1_ENST00000600779.1_FRAME_SHIFT_INS_p.R123fs/RP4-713A8.1_ENST00000607720.1_FIVE_PRIME_FLANK||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||false_%7C_false|false_%7C_false|0_%7C_0|false_%7C_false|false_%7C_false|false_%7C_false|true_%7C_false|false_%7C_false|138_%7C_138|false_%7C_false|false_%7C_false|1_%7C_1|false_%7C_false|false_%7C_false|MORN1:79906_%7C_MORN1:79906|_%7C_|false_%7C_false|_%7C_|false_%7C_false|false_%7C_false|false_%7C_false|false_%7C_false|false_%7C_false|false_%7C_false|false_%7C_false|0.755924_%2C_0.244076_%7C_|false_%7C_false|false_%7C_false|_%7C_|59142249_%7C_397940423|false_%7C_false|false_%7C_false|0x05000008000507001e000200_%7C_0x050000080005000002000200|true_%7C_false|false_%7C_false|2258946_%7C_2258947|0_%7C_0|false_%7C_false|true_%7C_false|false_%7C_false|false_%7C_false|false_%7C_false|_%7C_|false_%7C_false|true_%7C_true|_%7C_|true_%7C_false|rs59142249_%7C_rs397940423|true_%7C_true|false_%7C_false|DIV_%7C_DIV|_%7C_|false_%7C_false]
 chr1	2938407	rs4013154	CAGA	C	648.25	PASS	FUNCOTATION=[ACTRT2|hg19|chr1|2938408|2938410|IN_FRAME_DEL||DEL|AGA|AGA|-|g.chr1:2938408_2938410delAGA|ENST00000378404.2|+|1|362_364|c.158_160delAGA|c.(157-162)cagaag>cag|p.K54del|0.5905707196029777|GAGGCCAACCAGAAGAAGTACTT||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||true|false|0.8876_%2C_0.1124|false|false|1||false|true|false|ACTRT2:140625|false|false|false|true|true|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|4013154|2938408|true|false|0|false|0|false|0.890652_%2C_0.109348|false|false|false|DIV|true|0x05000000000515003e000200|1|false|108|rs4013154]
-chr1	6509021	.	GCCACCGCCGCCC	G	897.25	PASS	FUNCOTATION=[ESPN|hg19|chr1|6509022|6509033|IN_FRAME_DEL||DEL|CCACCGCCGCCC|CCACCGCCGCCC|-|g.chr1:6509022_6509033delCCACCGCCGCCC|ENST00000377828.1|+|8|1953_1964|c.1786_1797delCCACCGCCGCCC|c.(1786-1797)ccaccgccgcccdel|p.PPPP596del|0.7718446601941747|CAGGGAGCTGCCACCGCCGCCCCCACCGCCGC|ESPN_ENST00000461727.1_IN_FRAME_DEL_p.PPPP30del/ESPN_ENST00000416731.1_IN_FRAME_DEL_p.PPPP30del/ESPN_ENST00000475228.1_INTRON|||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||true|false|0.9984_%2C_0.001597|false|false|0||false|false|false|ESPN:83715|false|false|false|false|true|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|548962140|6509022|false|false|0|false|0|false|0.997047_%2C_0.0029535|false|false|false|DIV|true|0x050000000005040026000200|1|false|142|rs548962140]
+chr1	6509021	.	GCCACCGCCGCCC	G	897.25	PASS	FUNCOTATION=[ESPN|hg19|chr1|6509022|6509033|IN_FRAME_DEL||DEL|CCACCGCCGCCC|CCACCGCCGCCC|-|g.chr1:6509022_6509033delCCACCGCCGCCC|ENST00000377828.1|+|8|1953_1964|c.1786_1797delCCACCGCCGCCC|c.(1786-1797)ccaccgccgcccdel|p.PPPP596del|0.7718446601941747|CAGGGAGCTGCCACCGCCGCCCCCACCGCCGC|ESPN_ENST00000461727.1_IN_FRAME_DEL_p.PPPP30del/ESPN_ENST00000416731.1_IN_FRAME_DEL_p.PPPP30del/ESPN_ENST00000475228.1_INTRON/RP1-202O8.2_ENST00000419034.1_FIVE_PRIME_FLANK|||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||true|false|0.9984_%2C_0.001597|false|false|0||false|false|false|ESPN:83715|false|false|false|false|true|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|548962140|6509022|false|false|0|false|0|false|0.997047_%2C_0.0029535|false|false|false|DIV|true|0x050000000005040026000200|1|false|142|rs548962140]
 chr1	7913430	rs228648	G	A	1998.91	PASS	FUNCOTATION=[UTS2|hg19|chr1|7913430|7913430|DE_NOVO_START_IN_FRAME||SNP|G|G|A|g.chr1:7913430G>A|ENST00000377516.2|-|1|||||0.3566084788029925|GCAAAGAGACGTGGATTTATG|UTS2_ENST00000054668.5_MISSENSE_p.T21M/UTS2_ENST00000361696.5_FIVE_PRIME_FLANK|||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||true|false|0.5216_%2C_0.4784|false|false|1||false|true|true|UTS2:10911|true|true|false|true|true|false|false|false|false|false|false|true|false|false|false|true|true|false|true|true|228648|7913430|false|false|0|true|0|false|0.476578_%2C_0.523422|false|false|false|SNV|true|0x050128020a0517053f000101|1|false|79|rs228648]
 chr1	11593793	rs113116961	T	TGCACACACGCAC	4110.93	PASS	FUNCOTATION=[PTCHD2|hg19|chr1|11593793|11593794|INTRON||INS|-|-|GCACACACGCAC|g.chr1:11593793_11593794insGCACACACGCAC|ENST00000294484.6|+|||c.e18-645T>TGCACACACGCAC|||0.5625|AGACACGCATGCACACACAC|PTCHD2_ENST00000304391.6_FIVE_PRIME_UTR/PTCHD2_ENST00000389575.3_INTRON|||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||true|false|0.2478_%2C_0.3878|false|false|1||false|false|false|DISP3:57540_%7C_PTCHD2:57540|true|false|true|false|true|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|113116961|11593793|false|false|0|true|0|false||false|false|false|DIV|true|0x05010008000514012e000200|1|false|132|rs113116961]
 chr1	11710779	rs148874459	C	CGCG	492.29	PASS	FUNCOTATION=[FBXO2|hg19|chr1|11710779|11710780|IN_FRAME_INS||INS|-|-|GCG|g.chr1:11710779_11710780insGCG|ENST00000354287.4|-|2|477|c.134_135insCGC|c.(133-135)gcg>gcCGCg|p.45_46insA|0.7275|GTCCAGGTACGCGGCGGCGG|FBXO44_ENST00000251546.4_FIVE_PRIME_FLANK/FBXO44_ENST00000251547.5_FIVE_PRIME_FLANK/FBXO44_ENST00000376760.1_FIVE_PRIME_FLANK/FBXO44_ENST00000376762.4_FIVE_PRIME_FLANK/FBXO44_ENST00000376768.1_FIVE_PRIME_FLANK/FBXO44_ENST00000376770.1_FIVE_PRIME_FLANK||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||false_%7C_false|false_%7C_false|0_%7C_0|false_%7C_false|false_%7C_false|false_%7C_false|false_%7C_false|false_%7C_true|134_%7C_142|false_%7C_false|false_%7C_false|1_%7C_1|false_%7C_false|false_%7C_false|FBXO2:26232_%7C_FBXO2:26232|_%7C_|false_%7C_false|1_%7C_1|false_%7C_false|false_%7C_false|false_%7C_false|false_%7C_false|false_%7C_false|false_%7C_false|false_%7C_false|_%7C_|false_%7C_false|false_%7C_false|0.6534_%2C_0.3103_%7C_0.6534_%2C_0.3103|148874459_%7C_538764329|false_%7C_false|false_%7C_false|0x05000000000504000e000200_%7C_0x050000000005170024000200|false_%7C_true|false_%7C_false|11710779_%7C_11710782|0_%7C_0|false_%7C_false|false_%7C_true|false_%7C_false|false_%7C_false|false_%7C_false|_%7C_|false_%7C_false|false_%7C_false|_%7C_|true_%7C_true|rs148874459_%7C_rs538764329|true_%7C_true|false_%7C_false|DIV_%7C_DIV|_%7C_|false_%7C_false]
-chr1	11844520	rs41275466	C	T	492.25	PASS	FUNCOTATION=[C1orf167|hg19|chr1|11844520|11844520|NONSENSE||SNP|C|C|T|g.chr1:11844520C>T|ENST00000433342.1|+|15|3367|c.3367C>T|c.(3367-3369)Cag>Tag|p.Q1123*|0.6733167082294265|CCATGAGGCCCAGCAGCAGGC||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||true|false|0.988_%2C_0.01198|false|false|1||false|false|false|C1orf167:284498|false|false|false|true|true|false|false|false|false|false|false|false|true|false|false|false|false|false|false|true|41275466|11844520|false|false|0|false|0|false|0.984683_%2C_0.015317|false|false|false|SNV|true|0x050000000605140036000100|1|false|127|rs41275466]
+chr1	11844520	rs41275466	C	T	492.25	PASS	FUNCOTATION=[C1orf167|hg19|chr1|11844520|11844520|NONSENSE||SNP|C|C|T|g.chr1:11844520C>T|ENST00000433342.1|+|15|3367|c.3367C>T|c.(3367-3369)Cag>Tag|p.Q1123*|0.6733167082294265|CCATGAGGCCCAGCAGCAGGC|RP11-56N19.5_ENST00000376620.3_FIVE_PRIME_FLANK|||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||true|false|0.988_%2C_0.01198|false|false|1||false|false|false|C1orf167:284498|false|false|false|true|true|false|false|false|false|false|false|false|true|false|false|false|false|false|false|true|41275466|11844520|false|false|0|false|0|false|0.984683_%2C_0.015317|false|false|false|SNV|true|0x050000000605140036000100|1|false|127|rs41275466]
 chr1	11906068	rs5065	A	G	569.25	PASS	FUNCOTATION=[NPPA|hg19|chr1|11906068|11906068|NONSTOP||SNP|A|A|G|g.chr1:11906068A>G|ENST00000376480.3|-|3|553|c.454T>C|c.(454-456)Tga>Cga|p.*152R|0.4937655860349127|TGTTATCTTCAGTACTGCAAA|NPPA_ENST00000376476.1_NONSTOP_p.*102R/NPPA-AS1_ENST00000446542.1_RNA/NPPA-AS1_ENST00000400892.2_RNA|||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||true|false|0.8209_%2C_0.1791|false|false|1||false|true|false|NPPA:4878_%7C_NPPA-AS1:100379251|true|true|true|true|true|false|false|false|false|false|false|false|false|false|false|true|true|false|false|true|5065|11906068|false|false|0|true|0|false|0.737688_%2C_0.262312|true|false|false|SNV|true|0x05013808020515053f000100|1|false|52|rs5065]
-chr1	12980232	rs201674075	G	A	447.12	PASS	FUNCOTATION=[PRAMEF7|hg19|chr1|12980232|12980232|SILENT||SNP|G|G|A|g.chr1:12980232G>A|ENST00000361079.2|+|4|1507|c.1424G>A|c.(1423-1425)tGa>tAa|p.*475*|0.5411471321695761|TGCCTCTGTTGAATGCCTGCC||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||true|false||false|false|||false|false|false|PRAMEF7:441871|true|true|false|true|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|true|9328937|12980232|false|false|0|true|0|true||false|false|false|SNV|true|0x050100000305040516000100|1|false|119|rs9328937]
+chr1	12980232	rs201674075	G	A	447.12	PASS	FUNCOTATION=[PRAMEF7|hg19|chr1|12980232|12980232|SILENT||SNP|G|G|A|g.chr1:12980232G>A|ENST00000361079.2|+|4|1507|c.1424G>A|c.(1423-1425)tGa>tAa|p.*475*|0.5411471321695761|TGCCTCTGTTGAATGCCTGCC|RNU6-1072P_ENST00000384703.1_FIVE_PRIME_FLANK|||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||true|false||false|false|||false|false|false|PRAMEF7:441871|true|true|false|true|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|true|9328937|12980232|false|false|0|true|0|true||false|false|false|SNV|true|0x050100000305040516000100|1|false|119|rs9328937]
 chr1	14106394	rs2308040	A	ACTC	1278.16	PASS	FUNCOTATION=[PRDM2|hg19|chr1|14106394|14106395|IN_FRAME_INS||INS|-|-|CTC|g.chr1:14106394_14106395insCTC|ENST00000235372.7|+|8|2960|c.2104_2105insCTC|c.(2104-2106)act>aCTCct|p.702_703insP|0.4875|GATAAACTAACTCCTGCAGG|PRDM2_ENST00000413440.1_IN_FRAME_INS_p.501_502insP/PRDM2_ENST00000343137.4_IN_FRAME_INS_p.501_502insP/PRDM2_ENST00000376048.5_INTRON/PRDM2_ENST00000503842.1_INTRON/PRDM2_ENST00000505823.1_INTRON/PRDM2_ENST00000311066.5_IN_FRAME_INS_p.702_703insP||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||false_%7C_false|false_%7C_false|0_%7C_0|false_%7C_false|false_%7C_false|false_%7C_false|true_%7C_false|false_%7C_false|100_%7C_138|false_%7C_false|false_%7C_false|1_%7C_1|false_%7C_false|false_%7C_false|PRDM2:7799_%7C_PRDM2:7799|_%7C_|false_%7C_false|_%7C_|false_%7C_false|true_%7C_true|false_%7C_false|false_%7C_false|false_%7C_false|false_%7C_false|false_%7C_false|_%7C_|false_%7C_false|false_%7C_false|_%7C_|2308040_%7C_59028030|false_%7C_false|true_%7C_false|0x05010008000507011e000200_%7C_0x050100080005000102000200|true_%7C_false|false_%7C_false|14106394_%7C_14106399|0_%7C_0|false_%7C_false|true_%7C_false|false_%7C_false|false_%7C_false|true_%7C_true|_%7C_|false_%7C_false|true_%7C_true|_%7C_|true_%7C_false|rs2308040_%7C_rs59028030|true_%7C_true|false_%7C_false|DIV_%7C_DIV|_%7C_|false_%7C_false]
 chr1	15714854	.	C	CTCCCTCCCTCCCTCCCTCCT	171.30	PASS	FUNCOTATION=[FHAD1|hg19|chr1|15714854|15714855|INTRON||INS|-|-|TCCCTCCCTCCCTCCCTCCT|g.chr1:15714854_15714855insTCCCTCCCTCCCTCCCTCCT|ENST00000375998.4|+|||c.e29+6165C>CTCCCTCCCTCCCTCCCTCCT|||0.6025|CTGCCCCACCTGCCTGCAGT|FHAD1_ENST00000358897.4_INTRON/FHAD1_ENST00000417793.1_INTRON/FHAD1_ENST00000375999.3_NONSTOP_p.A1448fs/FHAD1_ENST00000314740.8_INTRON/FHAD1_ENST00000471347.1_INTRON|||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||false|false||false|false|||false|false|false||false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|||false|false||false||false||false|false|false||false|||false||]
 chr1	15820307	rs2234723	A	AC	439.29	PASS	FUNCOTATION=[CASP9|hg19|chr1|15820307|15820308|INTRON||INS|-|-|C|g.chr1:15820307_15820308insC|ENST00000333868.5|-|||c.e8-80T>GT|||0.575|GCCCTGCTCACCCCAAATCC|CASP9_ENST00000546424.1_FRAME_SHIFT_INS_p.V413fs/CASP9_ENST00000348549.5_INTRON/CASP9_ENST00000375890.4_INTRON||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||false_%7C_false|true_%7C_true|0_%7C_0|false_%7C_false|false_%7C_false|false_%7C_false|true_%7C_false|true_%7C_false|98_%7C_138|false_%7C_false|false_%7C_false|1_%7C_1|false_%7C_false|false_%7C_false|CASP9:842_%7C_CASP9:842|_%7C_|false_%7C_false|1_%7C_1|false_%7C_false|true_%7C_false|false_%7C_false|true_%7C_true|false_%7C_false|false_%7C_false|false_%7C_false|0.700426_%2C_0.299574_%7C_|false_%7C_false|false_%7C_false|0.7642_%2C_0.2358_%7C_0.7642_%2C_0.2358|2234723_%7C_397776921|false_%7C_false|true_%7C_false|0x05010008120517013e000201_%7C_0x050000081205000002000200|true_%7C_false|false_%7C_false|15820307_%7C_15820311|0_%7C_0|false_%7C_false|true_%7C_false|false_%7C_false|false_%7C_false|true_%7C_false|_%7C_|false_%7C_false|true_%7C_true|_%7C_|true_%7C_false|rs2234723_%7C_rs397776921|true_%7C_true|false_%7C_false|DIV_%7C_DIV|_%7C_|false_%7C_false]
@@ -202,7 +202,7 @@ chr1	28800364	.	T	TTAATGATACGG	174.58	PASS	FUNCOTATION=[PHACTR4|hg19|chr1|288003
 chr1	28800370	.	AT	A	200.53	PASS	FUNCOTATION=[PHACTR4|hg19|chr1|28800371|28800371|FRAME_SHIFT_DEL||DEL|T|T|-|g.chr1:28800371delT|ENST00000373836.3|+|6|1372|c.1159delT|c.(1159-1161)tccfs|p.S387fs|0.5236907730673317|GTTTCCACCATCCTTAGATCT|PHACTR4_ENST00000373839.3_FRAME_SHIFT_DEL_p.S377fs/PHACTR4_ENST00000493669.1_INTRON|||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||false|false||false|false|||false|false|false||false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|||false|false||false||false||false|false|false||false|||false||]
 chr1	28800375	.	T	G	213.53	PASS	FUNCOTATION=[PHACTR4|hg19|chr1|28800375|28800375|NONSENSE||SNP|T|T|G|g.chr1:28800375T>G|ENST00000373836.3|+|6|1377|c.1163T>G|c.(1162-1164)tTa>tGa|p.L388*|0.5211970074812967|CCACCATCCTTAGATCTACAC|PHACTR4_ENST00000373839.3_NONSENSE_p.L378*/PHACTR4_ENST00000493669.1_INTRON|||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||false|false||false|false|||false|false|false||false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|||false|false||false||false||false|false|false||false|||false||]
 chr1	31882582	rs4012494	G	GGCCTCA	1419.16	PASS	FUNCOTATION=[SERINC2|hg19|chr1|31882582|31882583|FIVE_PRIME_UTR||INS|-|-|GCCTCA|g.chr1:31882582_31882583insGCCTCA|ENST00000373710.1|+|1|||||0.5025|ATAAGGGATGGCCCTGCTCT|SERINC2_ENST00000373709.3_FIVE_PRIME_FLANK/SERINC2_ENST00000491976.1_FIVE_PRIME_FLANK/SERINC2_ENST00000536384.1_FIVE_PRIME_FLANK/SERINC2_ENST00000536859.1_FIVE_PRIME_FLANK||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||true_%7C_true|false_%7C_false|0_%7C_0|false_%7C_false|false_%7C_false|false_%7C_false|false_%7C_false|true_%7C_false|108_%7C_130|false_%7C_false|false_%7C_false|1_%7C_1|false_%7C_false|false_%7C_false|SERINC2:347735_%7C_SERINC2:347735|_%7C_|false_%7C_false|1_%7C_1|false_%7C_false|true_%7C_true|false_%7C_false|false_%7C_false|false_%7C_false|false_%7C_false|false_%7C_false|_%7C_|false_%7C_false|false_%7C_false|0.4065_%2C_0.5935_%7C_0.4065_%2C_0.5935|4012494_%7C_6143179|false_%7C_false|true_%7C_false|0x05010042000517012e000200_%7C_0x050100420005000102000200|true_%7C_false|false_%7C_false|31882582_%7C_31882585|0_%7C_0|false_%7C_false|true_%7C_false|true_%7C_true|false_%7C_false|true_%7C_true|_%7C_|false_%7C_false|false_%7C_false|_%7C_|true_%7C_false|rs4012494_%7C_rs6143179|true_%7C_true|false_%7C_false|DIV_%7C_DIV|_%7C_|false_%7C_false]
-chr1	31905889	rs3050461	A	ACAG	3632.73	PASS	FUNCOTATION=[SERINC2|hg19|chr1|31905889|31905890|IN_FRAME_INS||INS|-|-|CAG|g.chr1:31905889_31905890insCAG|ENST00000373709.3|+|9|1239|c.1089_1090insCAG|c.(1090-1092)cag>CAGcag|p.363_364insQ|0.6025|AGACGCCACACAGCAGCAGC|SERINC2_ENST00000373710.1_IN_FRAME_INS_p.372_373insQ/SERINC2_ENST00000536384.1_IN_FRAME_INS_p.367_368insQ/SERINC2_ENST00000536859.1_IN_FRAME_INS_p.367_368insQ/SERINC2_ENST00000491976.1_INTRON||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||false_%7C_false|false_%7C_false|0_%7C_0|false_%7C_false|false_%7C_false|false_%7C_false|false_%7C_false|true_%7C_false|102_%7C_126|false_%7C_false|false_%7C_false|1_%7C_1|false_%7C_false|false_%7C_false|SERINC2:347735_%7C_SERINC2:347735|_%7C_|false_%7C_false|1_%7C_1|false_%7C_false|true_%7C_true|false_%7C_false|false_%7C_false|false_%7C_false|false_%7C_false|false_%7C_false|_%7C_|false_%7C_false|false_%7C_false|0.261_%2C_0.739_%7C_0.261_%2C_0.739|3050461_%7C_5773362|false_%7C_false|true_%7C_false|0x05010000000517002e000200_%7C_0x050100000005000102000200|true_%7C_false|false_%7C_false|31905889_%7C_31905904|0_%7C_0|false_%7C_false|true_%7C_false|false_%7C_false|false_%7C_false|false_%7C_true|_%7C_|false_%7C_false|false_%7C_false|_%7C_|true_%7C_false|rs3050461_%7C_rs5773362|true_%7C_true|false_%7C_false|DIV_%7C_DIV|_%7C_|false_%7C_false]
+chr1	31905889	rs3050461	A	ACAG	3632.73	PASS	FUNCOTATION=[SERINC2|hg19|chr1|31905889|31905890|IN_FRAME_INS||INS|-|-|CAG|g.chr1:31905889_31905890insCAG|ENST00000373709.3|+|9|1239|c.1089_1090insCAG|c.(1090-1092)cag>CAGcag|p.363_364insQ|0.6025|AGACGCCACACAGCAGCAGC|SERINC2_ENST00000373710.1_IN_FRAME_INS_p.372_373insQ/SERINC2_ENST00000536384.1_IN_FRAME_INS_p.367_368insQ/SERINC2_ENST00000536859.1_IN_FRAME_INS_p.367_368insQ/AC114494.1_ENST00000596131.1_FIVE_PRIME_FLANK/SERINC2_ENST00000491976.1_INTRON||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||false_%7C_false|false_%7C_false|0_%7C_0|false_%7C_false|false_%7C_false|false_%7C_false|false_%7C_false|true_%7C_false|102_%7C_126|false_%7C_false|false_%7C_false|1_%7C_1|false_%7C_false|false_%7C_false|SERINC2:347735_%7C_SERINC2:347735|_%7C_|false_%7C_false|1_%7C_1|false_%7C_false|true_%7C_true|false_%7C_false|false_%7C_false|false_%7C_false|false_%7C_false|false_%7C_false|_%7C_|false_%7C_false|false_%7C_false|0.261_%2C_0.739_%7C_0.261_%2C_0.739|3050461_%7C_5773362|false_%7C_false|true_%7C_false|0x05010000000517002e000200_%7C_0x050100000005000102000200|true_%7C_false|false_%7C_false|31905889_%7C_31905904|0_%7C_0|false_%7C_false|true_%7C_false|false_%7C_false|false_%7C_false|false_%7C_true|_%7C_|false_%7C_false|false_%7C_false|_%7C_|true_%7C_false|rs3050461_%7C_rs5773362|true_%7C_true|false_%7C_false|DIV_%7C_DIV|_%7C_|false_%7C_false]
 chr1	36184975	rs7521021	G	A	3135.69	PASS	FUNCOTATION=[C1orf216|hg19|chr1|36184975|36184975|DE_NOVO_START_OUT_FRAME||SNP|G|G|A|g.chr1:36184975G>A|ENST00000270815.4|-|1|||||0.5461346633416458|CCTAGATCACGTTCGTTCCCC|C1orf216_ENST00000503824.1_FIVE_PRIME_FLANK|||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||true|false|0.02416_%2C_0.9758|false|false|1||false|true|false|C1orf216:127703|true|true|false|true|true|false|false|false|false|false|false|false|false|false|false|false|false|false|true|false|7521021|36184975|false|false|0|true|0|false|0.025929_%2C_0.974071|false|false|false|SNV|true|0x05010002000515053f000100|1|false|116|rs7521021]
 chr1	36643700	rs141305015	GAGA	G	909.25	PASS	FUNCOTATION=[MAP7D1|hg19|chr1|36643701|36643703|IN_FRAME_DEL||DEL|AGA|AGA|-|g.chr1:36643701_36643703delAGA|ENST00000373151.2|+|9|1822_1824|c.1607_1609delAGA|c.(1606-1611)gagaag>gag|p.K537del|0.6972704714640199|GCCAGTAACGAGAAGGAGTCAGC|MAP7D1_ENST00000373150.4_IN_FRAME_DEL_p.K505del/MAP7D1_ENST00000316156.4_IN_FRAME_DEL_p.K500del/MAP7D1_ENST00000373148.4_IN_FRAME_DEL_p.K83del||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||false_%7C_false|false_%7C_false|0_%7C_0|false_%7C_false|false_%7C_false|false_%7C_false|true_%7C_false|true_%7C_false|134_%7C_102|false_%7C_false|false_%7C_false|1_%7C_1|false_%7C_false|false_%7C_false|MAP7D1:55700_%7C_MAP7D1:55700|_%7C_|false_%7C_false|1_%7C_1|false_%7C_false|false_%7C_true|false_%7C_false|false_%7C_false|false_%7C_false|false_%7C_false|false_%7C_false|0.973178_%2C_0.0268219_%7C_|false_%7C_false|false_%7C_false|0.9355_%2C_0.0645_%7C_0.9355_%2C_0.0645|141305015_%7C_3045695|false_%7C_false|false_%7C_true|0x05000000000515003e000200_%7C_0x050100000005000002000200|false_%7C_false|false_%7C_false|36643701_%7C_36643703|0_%7C_0|false_%7C_false|true_%7C_false|false_%7C_false|false_%7C_false|false_%7C_false|_%7C_|false_%7C_false|false_%7C_false|_%7C_|true_%7C_false|rs141305015_%7C_rs3045695|true_%7C_true|false_%7C_false|DIV_%7C_DIV|_%7C_|false_%7C_false]
 chr1	40131838	.	T	TC	48.29	PASS	FUNCOTATION=[NT5C1A|hg19|chr1|40131838|40131839|FRAME_SHIFT_INS||INS|-|-|C|g.chr1:40131838_40131839insC|ENST00000235628.1|-|2|206|c.205_206insG|c.(205-207)cagfs|p.Q69fs|0.565|GTGTAGATCTGCTGCTCCTC||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||false|false||false|false|||false|false|false||false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|||false|false||false||false||false|false|false||false|||false||]
@@ -210,39 +210,39 @@ chr1	40131850	.	T	TA	48.29	PASS	FUNCOTATION=[NT5C1A|hg19|chr1|40131850|40131851|
 chr1	41847872	.	G	GGCCCGCGCCGGGACGCCCGCCTACTTCGGCGGCTGCAAGGGCGGCGCCTACGGCGGGGGCGGGGGCTTCGGGCCGCCGGCGATGGGCGCTCTGCGCCGTCTGCCCATGCAGACCATCCAGGAGAACAAGCAGGCCAGCTTCGTGCCGGCCGCGGCGCCCTTCCGCCCTGGGGCGCTGCCCGCGCTGCTGCCGCCGCCGCC	3817.87	PASS	FUNCOTATION=[FOXO6|hg19|chr1|41847872|41847873|FRAME_SHIFT_INS||INS|-|-|GCCCGCGCCGGGACGCCCGCCTACTTCGGCGGCTGCAAGGGCGGCGCCTACGGCGGGGGCGGGGGCTTCGGGCCGCCGGCGATGGGCGCTCTGCGCCGTCTGCCCATGCAGACCATCCAGGAGAACAAGCAGGCCAGCTTCGTGCCGGCCGCGGCGCCCTTCCGCCCTGGGGCGCTGCCCGCGCTGCTGCCGCCGCCGCC|g.chr1:41847872_41847873insGCCCGCGCCGGGACGCCCGCCTACTTCGGCGGCTGCAAGGGCGGCGCCTACGGCGGGGGCGGGGGCTTCGGGCCGCCGGCGATGGGCGCTCTGCGCCGTCTGCCCATGCAGACCATCCAGGAGAACAAGCAGGCCAGCTTCGTGCCGGCCGCGGCGCCCTTCCGCCCTGGGGCGCTGCCCGCGCTGCTGCCGCCGCCGCC|ENST00000372591.1|+|2|1008|c.999_1000insGCCCGCGCCGGGACGCCCGCCTACTTCGGCGGCTGCAAGGGCGGCGCCTACGGCGGGGGCGGGGGCTTCGGGCCGCCGGCGATGGGCGCTCTGCGCCGTCTGCCCATGCAGACCATCCAGGAGAACAAGCAGGCCAGCTTCGTGCCGGCCGCGGCGCCCTTCCGCCCTGGGGCGCTGCCCGCGCTGCTGCCGCCGCCGCC|c.(1000-1002)gccfs|p.Q337fs|0.8125|CGGGCCGCGGGCCCGCGCCC||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||false|false||false|false|||false|false|false||false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|||false|false||false||false||false|false|false||false|||false||]
 chr1	44596379	rs34057178	CCAA	C	850.25	PASS	FUNCOTATION=[KLF17|hg19|chr1|44596380|44596382|IN_FRAME_DEL||DEL|CAA|CAA|-|g.chr1:44596380_44596382delCAA|ENST00000372299.3|+|3|1179_1181|c.1122_1124delCAA|c.(1120-1125)gccaac>gcc|p.N375del|0.5012406947890818|ACCCACAGGCCAACAACAACAAT|KLF17_ENST00000476802.1_INTRON||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||false_%7C_false|false_%7C_false|1_%7C_0|false_%7C_false|false_%7C_false|false_%7C_false|true_%7C_false|true_%7C_false|126_%7C_137|false_%7C_false|false_%7C_false|1_%7C_1|false_%7C_false|false_%7C_false|KLF17:128209_%7C_KLF17:128209|_%7C_|false_%7C_false|1_%7C_1|false_%7C_false|false_%7C_false|false_%7C_false|false_%7C_false|false_%7C_false|false_%7C_false|false_%7C_false|0.857614_%2C_0.142386_%7C_|false_%7C_false|false_%7C_false|0.7698_%2C_0.2302_%7C_0.7698_%2C_0.2302|34057178_%7C_200059598|false_%7C_false|false_%7C_false|0x05000000000517003e000240_%7C_0x050000000005000002000200|true_%7C_false|false_%7C_false|44596380_%7C_44596388|0_%7C_0|false_%7C_false|true_%7C_false|false_%7C_false|false_%7C_false|false_%7C_false|_%7C_|false_%7C_false|false_%7C_false|_%7C_|true_%7C_false|rs34057178_%7C_rs200059598|true_%7C_true|false_%7C_false|DIV_%7C_DIV|_%7C_|false_%7C_false]
 chr1	47080679	rs6671527	G	A	1927.94	PASS	FUNCOTATION=[MOB3C|hg19|chr1|47080679|47080679|NONSENSE||SNP|G|G|A|g.chr1:47080679G>A|ENST00000271139.8|-|1|127|c.70C>T|c.(70-72)Cga>Tga|p.R24*|0.5087281795511222|CCGACTCTTCGACTTCTCACC|MOB3C_ENST00000371940.1_FIVE_PRIME_UTR/MOB3C_ENST00000319928.3_INTRON/MKNK1_ENST00000545730.1_INTRON/MOB3C_ENST00000477318.1_INTRON|||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||true|false|0.3578_%2C_0.6422_%2C_.|false|false|1||false|true|false|MOB3C:148932|true|true|true|true|true|false|false|false|false|false|false|true|true|false|false|false|false|false|false|true|6671527|47080679|false|false|0|true|0|false|0.472526_%2C_0.527474_%2C_.|false|false|false|SNV|true|0x050100080e0515053f000101|1|false|116|rs6671527]
-chr1	47904668	rs71053113	T	TCCGCAC	4677.73	PASS	FUNCOTATION=[FOXD2|hg19|chr1|47904668|47904669|IN_FRAME_INS||INS|-|-|CCGCAC|g.chr1:47904668_47904669insCCGCAC|ENST00000334793.5|+|1|2980|c.861_862insCCGCAC|c.(862-864)ccg>CCGCACccg|p.287_288insPH|0.795|GGCCCCGCATCCGCACCCGC|||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||false_%7C_false|false_%7C_false|0_%7C_0|false_%7C_false|false_%7C_false|false_%7C_false|true_%7C_false|true_%7C_false|102_%7C_130|false_%7C_false|false_%7C_false|1_%7C_1|false_%7C_false|false_%7C_false|FOXD2:2306_%7C_FOXD2:2306|_%7C_|false_%7C_false|1_%7C_1|false_%7C_false|true_%7C_true|false_%7C_false|false_%7C_false|false_%7C_false|false_%7C_false|false_%7C_false|_%7C_|false_%7C_false|false_%7C_false|0.03554_%2C_0.9645_%2C_._%7C_0.03554_%2C_0.9645|3046924_%7C_71053113|false_%7C_false|true_%7C_true|0x05010000000515003e000200_%7C_0x050100000005000102000200|false_%7C_false|false_%7C_false|47904668_%7C_47904686|0_%7C_0|false_%7C_false|true_%7C_false|false_%7C_false|false_%7C_false|false_%7C_true|_%7C_|false_%7C_false|false_%7C_false|_%7C_|true_%7C_false|rs3046924_%7C_rs71053113|true_%7C_true|false_%7C_false|DIV_%7C_DIV|_%7C_|false_%7C_false]
+chr1	47904668	rs71053113	T	TCCGCAC	4677.73	PASS	FUNCOTATION=[FOXD2|hg19|chr1|47904668|47904669|IN_FRAME_INS||INS|-|-|CCGCAC|g.chr1:47904668_47904669insCCGCAC|ENST00000334793.5|+|1|2980|c.861_862insCCGCAC|c.(862-864)ccg>CCGCACccg|p.287_288insPH|0.795|GGCCCCGCATCCGCACCCGC|FOXD2-AS1_ENST00000445551.1_FIVE_PRIME_FLANK||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||false_%7C_false|false_%7C_false|0_%7C_0|false_%7C_false|false_%7C_false|false_%7C_false|true_%7C_false|true_%7C_false|102_%7C_130|false_%7C_false|false_%7C_false|1_%7C_1|false_%7C_false|false_%7C_false|FOXD2:2306_%7C_FOXD2:2306|_%7C_|false_%7C_false|1_%7C_1|false_%7C_false|true_%7C_true|false_%7C_false|false_%7C_false|false_%7C_false|false_%7C_false|false_%7C_false|_%7C_|false_%7C_false|false_%7C_false|0.03554_%2C_0.9645_%2C_._%7C_0.03554_%2C_0.9645|3046924_%7C_71053113|false_%7C_false|true_%7C_true|0x05010000000515003e000200_%7C_0x050100000005000102000200|false_%7C_false|false_%7C_false|47904668_%7C_47904686|0_%7C_0|false_%7C_false|true_%7C_false|false_%7C_false|false_%7C_false|false_%7C_true|_%7C_|false_%7C_false|false_%7C_false|_%7C_|true_%7C_false|rs3046924_%7C_rs71053113|true_%7C_true|false_%7C_false|DIV_%7C_DIV|_%7C_|false_%7C_false]
 chr1	48569478	.	C	CTGTG	426.29	PASS	FUNCOTATION=[AL109659.1|hg19|chr1|48569478|48569479|FRAME_SHIFT_INS||INS|-|-|TGTG|g.chr1:48569478_48569479insTGTG|ENST00000601108.1|+|1|173|c.173_174insTGTG|c.(172-174)tctfs|p.I65fs|0.465|GGTGTGTGTCTGTGTGTGTG|||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||false_%7C_false|false_%7C_false|0_%7C_0|false_%7C_false|false_%7C_false|false_%7C_false|false_%7C_false|true_%7C_false|138_%7C_149|false_%7C_false|false_%7C_false|1_%7C_1|false_%7C_false|false_%7C_false|SKINT1L:391037_%7C_SKINT1L:391037|_%7C_|false_%7C_false|1_%7C_1|false_%7C_false|false_%7C_false|false_%7C_false|false_%7C_false|false_%7C_false|false_%7C_false|false_%7C_false|_%7C_|false_%7C_false|false_%7C_false|0.9379_%2C_0.03135_%2C_0.03075_%7C_0.9379_%2C_0.03135_%2C_0.03075|373596514_%7C_879571472|false_%7C_false|false_%7C_false|0x050000080005140026000200_%7C_0x050000080005000002000200|false_%7C_false|false_%7C_false|48569478_%7C_48569497|0_%7C_0|false_%7C_false|false_%7C_false|false_%7C_false|false_%7C_false|false_%7C_false|_%7C_|false_%7C_false|true_%7C_true|_%7C_|true_%7C_false|rs373596514_%7C_rs879571472|true_%7C_true|false_%7C_false|DIV_%7C_DIV|_%7C_|false_%7C_false]
 chr1	48708228	rs850763	G	T	386.25	PASS	FUNCOTATION=[SLC5A9|hg19|chr1|48708228|48708228|NONSENSE||SNP|G|G|T|g.chr1:48708228G>T|ENST00000438567.2|+|13|1829|c.1777G>T|c.(1777-1779)Gag>Tag|p.E593*|0.5835411471321695|GCCAGCCGGGGAGTGCCCTGC|SLC5A9_ENST00000236495.5_NONSENSE_p.E618*/SLC5A9_ENST00000533824.1_NONSENSE_p.E614*/SLC5A9_ENST00000471020.1_INTRON|||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||true|false|0.8862_%2C_0.1138|false|false|1||false|true|false|SLC5A9:200010|true|true|false|true|true|false|false|false|false|false|false|false|true|false|false|false|false|false|false|true|850763|48708228|true|false|0|true|0|false|0.859228_%2C_0.140772|false|false|false|SNV|true|0x050100000605150537000100|1|false|86|rs850763]
 chr1	50884773	rs4027495	CCGGCGG	C	1244.13	PASS	FUNCOTATION=[DMRTA2|hg19|chr1|50884774|50884779|IN_FRAME_DEL||DEL|CGGCGG|CGGCGG|-|g.chr1:50884774_50884779delCGGCGG|ENST00000404795.3|-|3|1586_1591|c.1187_1192delCCGCCG|c.(1186-1194)gccgccggg>ggg|p.AA396del|0.7807881773399015|CCAGGCCCCCCGGCGGCGGCGGCGGC|DMRTA2_ENST00000418121.1_IN_FRAME_DEL_p.AA396del||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||false_%7C_false|false_%7C_false|0_%7C_0|false_%7C_false|false_%7C_false|false_%7C_false|false_%7C_false|false_%7C_false|144_%7C_108|false_%7C_false|false_%7C_false|1_%7C_1|false_%7C_false|false_%7C_false|DMRTA2:63950_%7C_DMRTA2:63950|_%7C_|false_%7C_false|_%7C_|false_%7C_false|false_%7C_false|false_%7C_false|false_%7C_false|false_%7C_false|false_%7C_false|false_%7C_false|_%7C_|false_%7C_false|false_%7C_false|_%7C_|761537995_%7C_4027495|false_%7C_false|false_%7C_false|0x050000000005000002000200_%7C_0x050000000005000002000200|false_%7C_false|false_%7C_false|50884774_%7C_50884792|0_%7C_0|false_%7C_false|false_%7C_false|false_%7C_false|false_%7C_false|false_%7C_false|_%7C_|false_%7C_false|false_%7C_false|_%7C_|false_%7C_false|rs761537995_%7C_rs4027495|true_%7C_true|false_%7C_false|DIV_%7C_DIV|_%7C_|false_%7C_false]
 chr1	50884775	.	G	*,GGCA	1910.68	PASS	FUNCOTATION=[DMRTA2|hg19|chr1|50884775|50884775|COULD_NOT_DETERMINE||NA|G|G|*||ENST00000404795.3|+||||||0.7805486284289277|CAGGCCCCCCGGCGGCGGCGG|DMRTA2_ENST00000418121.1_COULD_NOT_DETERMINE|||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||false|false||false|false|||false|false|false||false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|||false|false||false||false||false|false|false||false|||false||],[DMRTA2|hg19|chr1|50884775|50884776|IN_FRAME_INS||INS|-|-|GCA|g.chr1:50884775_50884776insGCA|ENST00000404795.3|-|3|1584|c.1190_1191insTGC|c.(1189-1191)gcc>gcTGCc|p.397_398insA|0.78|AGGCCCCCCGGCGGCGGCGG|DMRTA2_ENST00000418121.1_IN_FRAME_INS_p.397_398insA|||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||false|false||false|false|||false|false|false||false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|||false|false||false||false||false|false|false||false|||false||]
-chr1	52306063	rs35723519	ATCT	A	1359.12	PASS	FUNCOTATION=[NRD1|hg19|chr1|52306064|52306066|IN_FRAME_DEL||DEL|TCT|TCT|-|g.chr1:52306064_52306066delTCT|ENST00000354831.7|-|2|655_657|c.462_464delAGA|c.(460-465)gaagat>gat|p.E154del|0.36476426799007444|TTCATCATCATCTTCTTCTTCTT|NRD1_ENST00000352171.7_IN_FRAME_DEL_p.E154del/NRD1_ENST00000539524.1_IN_FRAME_DEL_p.E22del/NRD1_ENST00000544028.1_IN_FRAME_DEL_p.E22del/NRD1_ENST00000485608.1_INTRON||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||false_%7C_false|false_%7C_false|0_%7C_0|false_%7C_false|false_%7C_false|false_%7C_false|true_%7C_false|true_%7C_false|126_%7C_129|false_%7C_false|false_%7C_false|1_%7C_1|false_%7C_false|false_%7C_false|NRD1:4898_%7C_NRDC:4898_%7C_NRD1:4898_%7C_NRDC:4898|_%7C_|false_%7C_false|1_%7C_1|false_%7C_false|false_%7C_true|false_%7C_false|false_%7C_false|false_%7C_false|false_%7C_false|false_%7C_false|_%7C_|false_%7C_false|false_%7C_false|0.4383_%2C_0.5617_%7C_0.4383_%2C_0.5617|35723519_%7C_60220085|false_%7C_false|false_%7C_false|0x05000000000517003e000200_%7C_0x050100000005000102000200|true_%7C_false|false_%7C_false|52306064_%7C_52306075|0_%7C_0|false_%7C_false|true_%7C_false|false_%7C_false|false_%7C_false|false_%7C_true|_%7C_|false_%7C_false|false_%7C_false|_%7C_|true_%7C_false|rs35723519_%7C_rs60220085|true_%7C_true|false_%7C_false|DIV_%7C_DIV|_%7C_|false_%7C_false]
+chr1	52306063	rs35723519	ATCT	A	1359.12	PASS	FUNCOTATION=[NRD1|hg19|chr1|52306064|52306066|IN_FRAME_DEL||DEL|TCT|TCT|-|g.chr1:52306064_52306066delTCT|ENST00000354831.7|-|2|655_657|c.462_464delAGA|c.(460-465)gaagat>gat|p.E154del|0.36476426799007444|TTCATCATCATCTTCTTCTTCTT|NRD1_ENST00000352171.7_IN_FRAME_DEL_p.E154del/NRD1_ENST00000539524.1_IN_FRAME_DEL_p.E22del/NRD1_ENST00000544028.1_IN_FRAME_DEL_p.E22del/NRD1_ENST00000485608.1_INTRON/MIR761_ENST00000390787.1_FIVE_PRIME_FLANK||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||false_%7C_false|false_%7C_false|0_%7C_0|false_%7C_false|false_%7C_false|false_%7C_false|true_%7C_false|true_%7C_false|126_%7C_129|false_%7C_false|false_%7C_false|1_%7C_1|false_%7C_false|false_%7C_false|NRD1:4898_%7C_NRDC:4898_%7C_NRD1:4898_%7C_NRDC:4898|_%7C_|false_%7C_false|1_%7C_1|false_%7C_false|false_%7C_true|false_%7C_false|false_%7C_false|false_%7C_false|false_%7C_false|false_%7C_false|_%7C_|false_%7C_false|false_%7C_false|0.4383_%2C_0.5617_%7C_0.4383_%2C_0.5617|35723519_%7C_60220085|false_%7C_false|false_%7C_false|0x05000000000517003e000200_%7C_0x050100000005000102000200|true_%7C_false|false_%7C_false|52306064_%7C_52306075|0_%7C_0|false_%7C_false|true_%7C_false|false_%7C_false|false_%7C_false|false_%7C_true|_%7C_|false_%7C_false|false_%7C_false|_%7C_|true_%7C_false|rs35723519_%7C_rs60220085|true_%7C_true|false_%7C_false|DIV_%7C_DIV|_%7C_|false_%7C_false]
 chr1	53925373	.	G	GCCGCCC	637.29	PASS	FUNCOTATION=[DMRTB1|hg19|chr1|53925373|53925374|IN_FRAME_INS||INS|-|-|CCGCCC|g.chr1:53925373_53925374insCCGCCC|ENST00000371445.3|+|1|302|c.247_248insCCGCCC|c.(247-249)gcc>gCCGCCCcc|p.83_84insAP|0.7475|GCTGCGGCCGCCGCCCCCGC|DMRTB1_ENST00000463126.1_FIVE_PRIME_FLANK||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||false_%7C_false|false_%7C_false|0_%7C_0|false_%7C_false|false_%7C_false|false_%7C_false|false_%7C_false|true_%7C_false|142_%7C_144|false_%7C_false|false_%7C_false|1_%7C_1|false_%7C_false|false_%7C_false|DMRTB1:63948_%7C_DMRTB1:63948|_%7C_|false_%7C_false|1_%7C_1|false_%7C_false|false_%7C_false|false_%7C_false|false_%7C_false|false_%7C_false|false_%7C_false|false_%7C_false|_%7C_|false_%7C_false|false_%7C_false|0.8926_%2C_0.1074_%7C_0.8926_%2C_0.1074|575081928_%7C_766482978|false_%7C_false|false_%7C_false|0x050000000005150026000200_%7C_0x050000000005000002000200|false_%7C_false|false_%7C_false|53925373_%7C_53925379|0_%7C_0|false_%7C_false|true_%7C_false|false_%7C_false|false_%7C_false|false_%7C_false|_%7C_|false_%7C_false|false_%7C_false|_%7C_|true_%7C_false|rs575081928_%7C_rs766482978|true_%7C_true|false_%7C_false|DIV_%7C_DIV|_%7C_|false_%7C_false]
 chr1	55182300	rs1147990	T	A	2208.94	PASS	FUNCOTATION=[TTC4|hg19|chr1|55182300|55182300|MISSENSE||SNP|T|T|A|g.chr1:55182300T>A|ENST00000371281.3|+|2|226|c.139T>A|c.(139-141)Tcg>Acg|p.S47T|0.3915211970074813|CCTATTTATGTCGAGAGCGCC|TTC4_ENST00000371284.5_INTRON/MROH7-TTC4_ENST00000414150.2_NONSENSE_p.C1282*|||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||true|false|0.3317_%2C_0.6683|false|false|1||false|true|false|TTC4:7268_%7C_MROH7-TTC4:100527960|true|true|false|true|true|false|false|false|false|false|false|true|false|false|false|true|true|false|false|true|1147990|55182300|true|false|0|true|0|false|0.448314_%2C_0.551686|false|false|false|SNV|true|0x050128000a0515053f000101|1|false|87|rs1147990]
 chr1	55505552	rs113330492	A	ACTG	1612.14	PASS	FUNCOTATION=[PCSK9|hg19|chr1|55505552|55505553|IN_FRAME_INS||INS|-|-|CTG|g.chr1:55505552_55505553insCTG|ENST00000302118.5|+|1|332|c.42_43insCTG|c.(43-45)ctg>CTGctg|p.14_15insL|0.7075|GCCGCTGCCACTGCTGCTGC|PCSK9_ENST00000452118.2_IN_FRAME_INS_p.14_15insL/PCSK9_ENST00000543384.1_FIVE_PRIME_FLANK||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||false_%7C_false_%7C_false|false_%7C_false_%7C_false|0_%7C_0_%7C_0|false_%7C_false_%7C_false|false_%7C_false_%7C_true|false_%7C_false_%7C_false|false_%7C_false_%7C_false|false_%7C_false_%7C_false|127_%7C_132_%7C_126|false_%7C_false_%7C_false|false_%7C_false_%7C_false|false_%7C_false_%7C_false|1_%7C_1_%7C_1|false_%7C_false_%7C_false|_%7C__%7C_|PCSK9:255738_%7C_PCSK9:255738_%7C_PCSK9:255738|false_%7C_false_%7C_false|_%7C__%7C_|false_%7C_false_%7C_false|false_%7C_true_%7C_true|false_%7C_false_%7C_true|false_%7C_false_%7C_false|false_%7C_false_%7C_false|false_%7C_false_%7C_false|false_%7C_false_%7C_false|_%7C__%7C_|false_%7C_false_%7C_false|false_%7C_false_%7C_false|_%7C__%7C_|45454392_%7C_113330492_%7C_35574083|false_%7C_false_%7C_false|false_%7C_false_%7C_false|0x050000020005070102000200_%7C_0x050100020005000102000200_%7C_0x050168020005040102100200|true_%7C_false_%7C_false|false_%7C_false_%7C_false|55505554_%7C_55505563_%7C_55505575|0_%7C_0_%7C_1|false_%7C_false_%7C_false|true_%7C_false_%7C_false|false_%7C_false_%7C_false|true_%7C_true_%7C_true|_%7C__%7C_|true_%7C_true_%7C_true|false_%7C_false_%7C_false|_%7C__%7C_|false_%7C_false_%7C_false|true_%7C_false_%7C_true|rs45454392_%7C_rs113330492_%7C_rs35574083|true_%7C_true_%7C_true|false_%7C_false_%7C_false|_%7C__%7C_|DIV_%7C_DIV_%7C_DIV|false_%7C_false_%7C_true]
 chr1	100327026	rs2307129	C	T	595.25	PASS	FUNCOTATION=[AGL|hg19|chr1|100327026|100327026|INTRON||SNP|C|C|T|g.chr1:100327026C>T|ENST00000294724.4|+|||c.e3-33C>T|||0.32418952618453867|TTAAGTCCTACGATGAGTTTA|AGL_ENST00000361915.3_INTRON/AGL_ENST00000370163.3_INTRON/AGL_ENST00000370165.3_INTRON/AGL_ENST00000361522.4_DE_NOVO_START_IN_FRAME/AGL_ENST00000361302.3_INTRON/AGL_ENST00000370161.2_INTRON|||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||true|false|0.7728_%2C_0.2272|false|false|1||false|true|true|AGL:178|true|true|true|true|true|false|false|false|false|false|false|false|false|false|false|true|true|false|false|false|2307129|100327026|true|false|0|true|0|false|0.729068_%2C_0.270932|false|false|true|SNV|true|0x05012848000517053f000100|1|false|100|rs2307129]
 chr1	104293194	.	C	T	36.34	PASS	FUNCOTATION=[AMY1C|hg19|chr1|104293194|104293194|NONSENSE||SNP|C|C|T|g.chr1:104293194C>T|ENST00000370079.3|+|1|167|c.103C>T|c.(103-105)Cga>Tga|p.R35*|0.3740648379052369|GTTTGAATGGCGATGGGTTGA||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||true|false||false|false|||false|false|false|AMY1C:278|false|false|false|false|false|false|false|false|false|false|false|false|true|false|false|false|false|false|false|true|938886200|104293194|false|false|0|false|0|false|0.999966_%2C_3.4343e-005|false|false|false|SNV|false|0x050000000605000002000100|1|false|150|rs938886200]
 chr1	112162775	rs113172457	C	T	995.10	PASS	FUNCOTATION=[RAP1A|hg19|chr1|112162775|112162775|DE_NOVO_START_OUT_FRAME||SNP|C|C|T|g.chr1:112162775C>T|ENST00000545460.1|+|1|||||0.7206982543640897|GAGCCAACCACGCCCGCGGAC|RAP1A_ENST00000369709.3_INTRON/RAP1A_ENST00000356415.1_INTRON/RAP1A_ENST00000436150.2_INTRON|||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||true|false|0.8762_%2C_0.1238|false|false|1||false|true|false|RAP1A:5906|false|false|true|true|true|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|113172457|112162775|false|false|0|true|0|false|0.89546_%2C_0.10454|false|false|true|SNV|true|0x050100480005150036000100|1|false|132|rs113172457]
-chr1	114447565	rs1217397	G	A	1432.91	PASS	FUNCOTATION=[AP4B1|hg19|chr1|114447565|114447565|DE_NOVO_START_OUT_FRAME||SNP|G|G|A|g.chr1:114447565G>A|ENST00000369569.1|-|1|||||0.6309226932668329|AGGCCCTACCGTCGGCCGGCA|AP4B1_ENST00000256658.4_DE_NOVO_START_OUT_FRAME/AP4B1_ENST00000369566.3_FIVE_PRIME_FLANK/AP4B1_ENST00000369567.1_FIVE_PRIME_FLANK|||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||true|false|0.6705_%2C_0.3295|false|false|1||false|true|false|DCLRE1B:64858_%7C_AP4B1:10717|true|true|true|true|true|false|false|false|false|false|false|false|false|false|false|false|false|false|true|false|1217397|114447565|true|false|0|true|0|false|0.586304_%2C_0.413696|false|false|true|SNV|true|0x0501004a000515053f000101|1|false|87|rs1217397]
+chr1	114447565	rs1217397	G	A	1432.91	PASS	FUNCOTATION=[AP4B1|hg19|chr1|114447565|114447565|DE_NOVO_START_OUT_FRAME||SNP|G|G|A|g.chr1:114447565G>A|ENST00000369569.1|-|1|||||0.6309226932668329|AGGCCCTACCGTCGGCCGGCA|AP4B1_ENST00000256658.4_DE_NOVO_START_OUT_FRAME/DCLRE1B_ENST00000369563.3_FIVE_PRIME_FLANK/AP4B1_ENST00000369566.3_FIVE_PRIME_FLANK/AP4B1_ENST00000369567.1_FIVE_PRIME_FLANK/DCLRE1B_ENST00000466480.1_FIVE_PRIME_FLANK|||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||true|false|0.6705_%2C_0.3295|false|false|1||false|true|false|DCLRE1B:64858_%7C_AP4B1:10717|true|true|true|true|true|false|false|false|false|false|false|false|false|false|false|false|false|false|true|false|1217397|114447565|true|false|0|true|0|false|0.586304_%2C_0.413696|false|false|true|SNV|true|0x0501004a000515053f000101|1|false|87|rs1217397]
 chr1	144364205	.	G	A	302.26	PASS	FUNCOTATION=[PPIAL4B|hg19|chr1|144364205|144364205|DE_NOVO_START_OUT_FRAME||SNP|G|G|A|g.chr1:144364205G>A|ENST00000540273.1|-|1|||||0.4114713216957606|TGATGGTGGCGTCTGCAAAGA|AL592284.1_ENST00000538264.1_INTRON|||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||false|false||false|false|||false|false|false||false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|||false|false||false||false||false|false|false||false|||false||]
 chr1	144864277	.	G	A	487.26	PASS	FUNCOTATION=[PDE4DIP|hg19|chr1|144864277|144864277|NONSENSE||SNP|G|G|A|g.chr1:144864277G>A|ENST00000530740.1|-|38|6112|c.6073C>T|c.(6073-6075)Cga>Tga|p.R2025*|0.5211970074812967|AGGTGGGATCGAGAGGACAGC|PDE4DIP_ENST00000369359.4_NONSENSE_p.R2076*/PDE4DIP_ENST00000369356.4_NONSENSE_p.R1940*/PDE4DIP_ENST00000369354.3_NONSENSE_p.R1940*/PDE4DIP_ENST00000313382.9_NONSENSE_p.R1834*/RP4-791M13.4_ENST00000532137.1_RNA/PDE4DIP_ENST00000524974.1_INTRON|||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||true|false||false|false|||false|false|false|PDE4DIP:9659|false|true|false|false|false|false|false|false|false|false|false|true|true|false|false|false|false|false|false|true|139257887|144864277|false|false|0|true|0|false||false|false|false|SNV|true|0x050100000e05040402000100|1|false|134|rs139257887]
 chr1	144916676	.	C	T	171.25	PASS	FUNCOTATION=[PDE4DIP|hg19|chr1|144916676|144916676|NONSENSE||SNP|C|C|T|g.chr1:144916676C>T|ENST00000530740.1|-|16|2129|c.2090G>A|c.(2089-2091)tGg>tAg|p.W697*|0.40399002493765584|TTCTTTCAGCCACTGGAGGTT|PDE4DIP_ENST00000479408.2_NONSENSE_p.W347*/PDE4DIP_ENST00000313431.9_NONSENSE_p.W723*/PDE4DIP_ENST00000529945.1_NONSENSE_p.W723*/PDE4DIP_ENST00000369359.4_NONSENSE_p.W697*/PDE4DIP_ENST00000369356.4_NONSENSE_p.W560*/PDE4DIP_ENST00000369354.3_NONSENSE_p.W560*/PDE4DIP_ENST00000313382.9_NONSENSE_p.W626*/PDE4DIP_ENST00000369351.3_NONSENSE_p.W560*/PDE4DIP_ENST00000369349.3_NONSENSE_p.W560*|||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||true|false||false|false|||false|true|true|PDE4DIP:9659|true|false|false|true|false|false|false|false|false|false|false|false|true|false|false|false|false|false|false|true|1698683|144916676|true|true|0|true|0|false||false|false|false|SNV|true|0x050300000605070116000100|1|false|89|rs1698683]
 chr1	145273366	rs140871032	C	T	452.25	PASS	FUNCOTATION=[NOTCH2NL|hg19|chr1|145273366|145273366|NONSENSE||SNP|C|C|T|g.chr1:145273366C>T|ENST00000369340.3|+|4|664|c.220C>T|c.(220-222)Cga>Tga|p.R74*|0.49875311720698257|CTTTGTGTCTCGACCTTGCCT|NOTCH2NL_ENST00000362074.6_NONSENSE_p.R74*/NOTCH2NL_ENST00000344859.3_NONSENSE_p.R74*/RP11-458D21.5_ENST00000468030.1_NONSENSE_p.R74*|||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||true|false||false|false|||false|true|false|NOTCH2NL:388677|false|false|false|false|false|false|false|false|false|false|false|true|true|false|false|false|false|false|false|true|140871032|145273366|false|true|0|true|0|false||false|false|false|SNV|true|0x050300000e05050002000100|1|false|134|rs140871032]
-chr1	151736876	rs1568485	C	T	956.10	PASS	FUNCOTATION=[OAZ3|hg19|chr1|151736876|151736876|DE_NOVO_START_OUT_FRAME||SNP|C|C|T|g.chr1:151736876C>T|ENST00000479764.1|+|1|||||0.4239401496259352|TTTCCTCTTACGTATCCAAAG|OAZ3_ENST00000453029.2_INTRON/OAZ3_ENST00000321531.5_INTRON/OAZ3_ENST00000315067.8_INTRON/OAZ3_ENST00000400999.1_FIVE_PRIME_FLANK/OAZ3_ENST00000577465.1_FIVE_PRIME_FLANK/RP11-98D18.3_ENST00000512280.1_RNA|||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||true|false|0.2428_%2C_0.7572|false|false|1||false|true|false|OAZ3:51686_%7C_MRPL9:65005|true|true|true|true|true|false|false|false|false|false|false|false|false|false|false|false|false|false|true|false|1568485|151736876|false|false|0|true|0|false|0.335394_%2C_0.664606|false|false|false|SNV|true|0x0501000a000515053f000100|1|false|88|rs1568485]
+chr1	151736876	rs1568485	C	T	956.10	PASS	FUNCOTATION=[OAZ3|hg19|chr1|151736876|151736876|DE_NOVO_START_OUT_FRAME||SNP|C|C|T|g.chr1:151736876C>T|ENST00000479764.1|+|1|||||0.4239401496259352|TTTCCTCTTACGTATCCAAAG|OAZ3_ENST00000453029.2_INTRON/OAZ3_ENST00000321531.5_INTRON/OAZ3_ENST00000315067.8_INTRON/MRPL9_ENST00000368829.3_FIVE_PRIME_FLANK/MRPL9_ENST00000368830.3_FIVE_PRIME_FLANK/OAZ3_ENST00000400999.1_FIVE_PRIME_FLANK/MRPL9_ENST00000467306.1_FIVE_PRIME_FLANK/OAZ3_ENST00000577465.1_FIVE_PRIME_FLANK/RP11-98D18.3_ENST00000512280.1_RNA/RP11-98D18.2_ENST00000420382.1_FIVE_PRIME_FLANK|||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||true|false|0.2428_%2C_0.7572|false|false|1||false|true|false|OAZ3:51686_%7C_MRPL9:65005|true|true|true|true|true|false|false|false|false|false|false|false|false|false|false|false|false|false|true|false|1568485|151736876|false|false|0|true|0|false|0.335394_%2C_0.664606|false|false|false|SNV|true|0x0501000a000515053f000100|1|false|88|rs1568485]
 chr1	152195728	rs34061715	AT	A	2639.69	PASS	FUNCOTATION=[HRNR|hg19|chr1|152195729|152195729|START_CODON_DEL||DEL|T|T|-|g.chr1:152195729delT|ENST00000368801.2|-|2|78|c.1delA|||0.3640897755610973|AGTTTAGGCATTTTTTTTTTT|FLG-AS1_ENST00000420707.1_RNA/FLG-AS1_ENST00000593011.1_RNA||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||false_%7C_true_%7C_true|true_%7C_false_%7C_false|0_%7C_0_%7C_0|false_%7C_false_%7C_false|false_%7C_false_%7C_false|false_%7C_false_%7C_false|false_%7C_false_%7C_false|false_%7C_true_%7C_false|134_%7C_142_%7C_138|false_%7C_false_%7C_false|false_%7C_false_%7C_false|false_%7C_false_%7C_false|1_%7C_1_%7C_1|false_%7C_false_%7C_false|_%7C__%7C_|HRNR:388697_%7C_HRNR:388697_%7C_HRNR:388697|false_%7C_false_%7C_false|1_%7C_1_%7C_1|false_%7C_false_%7C_false|true_%7C_false_%7C_true|false_%7C_false_%7C_false|true_%7C_false_%7C_false|false_%7C_false_%7C_false|false_%7C_false_%7C_false|false_%7C_false_%7C_false|0.07648_%2C_0.874_%7C_0.07648_%2C_0.874_%7C_0.07648_%2C_0.874|false_%7C_false_%7C_false|false_%7C_false_%7C_false|_%7C__%7C_|34061715_%7C_530205886_%7C_397824794|false_%7C_false_%7C_false|false_%7C_false_%7C_false|0x050100001205000102000200_%7C_0x050000400005150024000200_%7C_0x050100400005000102000200|false_%7C_false_%7C_false|false_%7C_false_%7C_false|152195729_%7C_152195730_%7C_152195739|0_%7C_0_%7C_0|false_%7C_false_%7C_false|false_%7C_true_%7C_false|false_%7C_false_%7C_false|false_%7C_false_%7C_false|_%7C__%7C_|true_%7C_false_%7C_true|false_%7C_false_%7C_false|_%7C__%7C_|false_%7C_false_%7C_false|false_%7C_true_%7C_false|rs34061715_%7C_rs530205886_%7C_rs397824794|true_%7C_true_%7C_true|false_%7C_false_%7C_false|_%7C__%7C_|DIV_%7C_DIV_%7C_DIV|false_%7C_false_%7C_false]
 chr1	152770613	rs41268500	T	G	414.25	PASS	FUNCOTATION=[LCE1D|hg19|chr1|152770613|152770613|NONSTOP||SNP|T|T|G|g.chr1:152770613T>G|ENST00000326233.6|+|2|386|c.343T>G|c.(343-345)Tga>Gga|p.*115G|0.5960099750623441|AGGCTGCTGCTGAAGTGGACC||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||true|false|0.9419_%2C_0.05811|false|false|1||false|true|false|LCE1D:353134|false|false|false|true|true|false|false|false|false|false|false|false|false|false|false|true|true|false|false|true|41268500|152770613|false|false|0|true|0|false||false|false|false|SNV|true|0x050128000205150036000100|1|false|127|rs41268500]
 chr1	156124223	.	T	TG	479.29	PASS	FUNCOTATION=[SEMA4A|hg19|chr1|156124223|156124224|FIVE_PRIME_UTR||INS|-|-|G|g.chr1:156124223_156124224insG|ENST00000368282.1|+|1|||||0.585|CTGCCCCAATGCCCCACCCC|SEMA4A_ENST00000368285.3_INTRON/SEMA4A_ENST00000355014.2_INTRON/SEMA4A_ENST00000368284.1_INTRON/SEMA4A_ENST00000368286.2_INTRON/SEMA4A_ENST00000487358.1_FIVE_PRIME_FLANK|||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||true|false|0.9992_%2C_0.0007987|false|false|0||false|false|false|SEMA4A:64218|false|false|true|false|true|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|551865598|156124223|false|false|0|false|0|false|0.998832_%2C_0.00116766|false|false|false|DIV|true|0x050000080005040026000200|1|false|142|rs551865598]
 chr1	156213921	rs7513351	C	T	744.25	PASS	FUNCOTATION=[PAQR6|hg19|chr1|156213921|156213921|SILENT||SNP|C|C|T|g.chr1:156213921C>T|ENST00000292291.5|-|8|1193|c.1034G>A|c.(1033-1035)tGa>tAa|p.*345*|0.6359102244389028|GATGGGGCCTCACTGTTGTTT|PAQR6_ENST00000335852.1_MISSENSE_p.E263K/PAQR6_ENST00000368270.1_SILENT_p.*321*/PAQR6_ENST00000540423.1_SILENT_p.*342*/PAQR6_ENST00000356983.2_MISSENSE_p.E263K/PAQR6_ENST00000492619.1_INTRON|||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||true|false|0.7808_%2C_0.2192|false|false|1||false|true|true|PAQR6:79957|true|true|false|true|true|false|false|false|false|false|false|true|false|false|false|true|true|false|false|true|7513351|156213921|false|false|0|true|0|true|0.822275_%2C_0.177725|false|false|false|SNV|true|0x050128000b0517053f000100|1|false|116|rs7513351]
 chr1	159174123	rs3027012	C	T	751.12	PASS	FUNCOTATION=[DARC|hg19|chr1|159174123|159174123|DE_NOVO_START_OUT_FRAME||SNP|C|C|T|g.chr1:159174123C>T|ENST00000368122.2|+|1|||||0.5336658354114713|ACACAGCAAACGTACACAGAG|DARC_ENST00000537147.1_DE_NOVO_START_OUT_FRAME/DARC_ENST00000368121.2_FIVE_PRIME_FLANK/CTA-134P22.2_ENST00000609696.1_RNA/CTA-134P22.2_ENST00000415675.2_FIVE_PRIME_FLANK|||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||true|false|0.9085_%2C_0.09145|false|false|1||false|true|false|CADM3-AS1:100131825_%7C_ACKR1:2532|true|true|false|true|true|false|false|false|false|false|false|false|false|false|false|false|false|false|true|false|3027012|159174123|false|false|0|true|0|false|0.887492_%2C_0.112508|false|false|true|SNV|true|0x05010042000515053f000100|1|false|102|rs3027012]
-chr1	161601097	rs67020125	C	A	447.25	PASS	FUNCOTATION=[FCGR3B|hg19|chr1|161601097|161601097|INTRON||SNP|C|C|A|g.chr1:161601097C>A|ENST00000367964.2|-|||c.e2+169G>T|||0.5361596009975063|AGGAAAGAGCCTGGAGGCAAG|FCGR3B_ENST00000294800.3_DE_NOVO_START_OUT_FRAME/FCGR2B_ENST00000403078.3_INTRON/FCGR2B_ENST00000367962.4_INTRON/FCGR2B_ENST00000367960.5_INTRON/FCGR2B_ENST00000428605.2_INTRON/FCGR3B_ENST00000531221.1_FIVE_PRIME_FLANK|||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||true|false|0.9058_%2C_0.09425|false|false|1||false|true|true|FCGR3B:2215|false|true|true|true|true|false|false|false|false|false|false|false|false|false|false|false|false|false|true|false|67020125|161601097|false|false|0|true|0|false||false|false|true|SNV|true|0x0501004a000517043e000100|1|false|130|rs67020125]
+chr1	161601097	rs67020125	C	A	447.25	PASS	FUNCOTATION=[FCGR3B|hg19|chr1|161601097|161601097|INTRON||SNP|C|C|A|g.chr1:161601097C>A|ENST00000367964.2|-|||c.e2+169G>T|||0.5361596009975063|AGGAAAGAGCCTGGAGGCAAG|FCGR3B_ENST00000294800.3_DE_NOVO_START_OUT_FRAME/FCGR2B_ENST00000403078.3_INTRON/FCGR2B_ENST00000367962.4_INTRON/FCGR2B_ENST00000367960.5_INTRON/FCGR2B_ENST00000428605.2_INTRON/FCGR3B_ENST00000531221.1_FIVE_PRIME_FLANK/FCGR3A_ENST00000540048.1_FIVE_PRIME_FLANK|||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||true|false|0.9058_%2C_0.09425|false|false|1||false|true|true|FCGR3B:2215|false|true|true|true|true|false|false|false|false|false|false|false|false|false|false|false|false|false|true|false|67020125|161601097|false|false|0|true|0|false||false|false|true|SNV|true|0x0501004a000517043e000100|1|false|130|rs67020125]
 chr1	167385324	rs34032944	TA	T	301.38	PASS	FUNCOTATION=[POU2F1|hg19|chr1|167385325|167385325|THREE_PRIME_UTR||DEL|A|A|-|g.chr1:167385325delA|ENST00000367862.5|+|16|||||0.3266832917705736|ACCAAAAATTAAAAAAAAAAA|POU2F1_ENST00000367866.2_THREE_PRIME_UTR/POU2F1_ENST00000420254.3_NONSTOP_p.K656fs/POU2F1_ENST00000367865.1_INTRON||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||false_%7C_false|false_%7C_false|0_%7C_0|true_%7C_true|false_%7C_false|false_%7C_false|false_%7C_false|true_%7C_false|126_%7C_144|false_%7C_false|false_%7C_false|1_%7C_1|false_%7C_false|false_%7C_false|POU2F1:5451_%7C_POU2F1:5451|_%7C_|false_%7C_false|1_%7C_1|false_%7C_false|false_%7C_false|false_%7C_false|false_%7C_false|false_%7C_false|false_%7C_false|false_%7C_false|_%7C_|false_%7C_false|false_%7C_false|0.3023_%2C_0.6977_%7C_0.3023_%2C_0.6977|34032944_%7C_779631157|false_%7C_false|false_%7C_false|0x050000800005170026000200_%7C_0x050000800005000002000200|true_%7C_false|false_%7C_false|167385325_%7C_167385326|0_%7C_0|false_%7C_false|true_%7C_false|false_%7C_false|false_%7C_false|false_%7C_false|_%7C_|false_%7C_false|false_%7C_false|_%7C_|true_%7C_false|rs34032944_%7C_rs779631157|true_%7C_true|false_%7C_false|DIV_%7C_DIV|_%7C_|false_%7C_false]
 chr1	196757960	rs116394410	G	A	269.25	PASS	FUNCOTATION=[CFHR3|hg19|chr1|196757960|196757960|INTRON||SNP|G|G|A|g.chr1:196757960G>A|ENST00000367425.4|+|||c.e4+432G>A|||0.3765586034912718|ATTTCTGCTAGCGTCAGGAGA|CFHR3_ENST00000471440.2_SILENT_p.*233*/CFHR3_ENST00000391985.3_INTRON|||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||true|false|0.9952_%2C_0.004792|false|false|1||false|false|false|CFHR3:10878|false|true|true|true|true|false|false|false|false|false|false|false|false|false|false|false|false|false|false|true|116394410|196757960|false|false|0|true|0|true||false|false|false|SNV|true|0x050100080305040436000100|1|false|132|rs116394410]
 chr1	230829139	rs1051038	A	G	990.12	PASS	FUNCOTATION=[COG2|hg19|chr1|230829139|230829139|SILENT||SNP|A|A|G|g.chr1:230829139A>G|ENST00000366669.4|+|18|2332|c.2217A>G|c.(2215-2217)taA>taG|p.*739*|0.4513715710723192|AGCAGCCTTAAGCATCTTGGA|COG2_ENST00000366668.3_SILENT_p.*738*/COG2_ENST00000534989.1_SILENT_p.*680*/COG2_ENST00000535166.1_SILENT_p.*623*/COG2_ENST00000546013.1_SILENT_p.*428*|||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||true|false|0.6554_%2C_0.3446|false|false|1||false|true|true|COG2:22796|true|true|false|true|true|false|false|false|false|false|false|false|false|false|false|true|true|false|false|true|1051038|230829139|false|false|0|true|0|true|0.75577_%2C_0.24423|false|false|false|SNV|true|0x05012800030517053f000100|1|false|86|rs1051038]
 chr2	242800	rs10181051	T	C	356.25	PASS	FUNCOTATION=[SH3YL1|hg19|chr2|242800|242800|INTRON||SNP|T|T|C|g.chr2:242800T>C|ENST00000405430.1|-|||c.e6-4738A>G|||0.2967581047381546|AAAGTTACCATTAGATTGACA|SH3YL1_ENST00000356150.5_INTRON/SH3YL1_ENST00000403657.1_START_CODON_SNP_p.M1V/SH3YL1_ENST00000403658.1_START_CODON_SNP_p.M1V/SH3YL1_ENST00000402632.1_INTRON/SH3YL1_ENST00000403712.2_INTRON/SH3YL1_ENST00000415006.2_START_CODON_SNP_p.M1V/SH3YL1_ENST00000468321.1_INTRON|||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||true|false|0.6745_%2C_0.3255_%2C_.|false|false|1||false|true|true|SH3YL1:26751|true|true|true|true|true|false|true|false|false|false|false|true|false|false|false|true|true|false|false|true|10181051|242800|false|false|0|true|0|false|0.709198_%2C_0.290802_%2C_.|false|false|false|SNV|true|0x050128080a0517053f020100|1|false|119|rs10181051]
-chr2	260677	rs10188763	G	A	729.25	PASS	FUNCOTATION=[SH3YL1|hg19|chr2|260677|260677|INTRON||SNP|G|G|A|g.chr2:260677G>A|ENST00000405430.1|-|||c.e3-1954C>T|||0.43640897755610975|GGACTTCTTCGTCAAATGGAC|SH3YL1_ENST00000356150.5_INTRON/SH3YL1_ENST00000403657.1_DE_NOVO_START_IN_FRAME/SH3YL1_ENST00000402632.1_INTRON/SH3YL1_ENST00000403712.2_INTRON/SH3YL1_ENST00000403658.1_INTRON/SH3YL1_ENST00000468321.1_INTRON|||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||true|false|0.6895_%2C_0.3105|false|false|1||false|true|true|SH3YL1:26751|true|true|true|true|true|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|10188763|260677|false|false|0|true|0|false|0.737327_%2C_0.262673|false|false|false|SNV|true|0x05010008000517053f000100|1|false|119|rs10188763]
-chr2	3519572	rs6422707	A	C	3016.89	PASS	FUNCOTATION=[ADI1|hg19|chr2|3519572|3519572|INTRON||SNP|A|A|C|g.chr2:3519572A>C|ENST00000327435.6|-|||c.e2+1825T>G|||0.428927680798005|CCAGCTGTAAAATTCCTCTCT|ADI1_ENST00000382093.5_DE_NOVO_START_IN_FRAME|||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||true|false|0.3085_%2C_0.6915|false|false|1||false|true|true|ADI1:55256|true|false|true|true|true|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|6422707|3519572|false|false|0|true|0|false|0.327621_%2C_0.672379|false|false|true|SNV|true|0x050100480005170136000100|1|false|116|rs6422707]
+chr2	260677	rs10188763	G	A	729.25	PASS	FUNCOTATION=[SH3YL1|hg19|chr2|260677|260677|INTRON||SNP|G|G|A|g.chr2:260677G>A|ENST00000405430.1|-|||c.e3-1954C>T|||0.43640897755610975|GGACTTCTTCGTCAAATGGAC|SH3YL1_ENST00000356150.5_INTRON/SH3YL1_ENST00000403657.1_DE_NOVO_START_IN_FRAME/SH3YL1_ENST00000402632.1_INTRON/SH3YL1_ENST00000403712.2_INTRON/SH3YL1_ENST00000403658.1_INTRON/ACP1_ENST00000272065.5_FIVE_PRIME_FLANK/ACP1_ENST00000272067.6_FIVE_PRIME_FLANK/ACP1_ENST00000405233.1_FIVE_PRIME_FLANK/ACP1_ENST00000407983.3_FIVE_PRIME_FLANK/ACP1_ENST00000439645.2_FIVE_PRIME_FLANK/ACP1_ENST00000484464.1_FIVE_PRIME_FLANK/SH3YL1_ENST00000468321.1_INTRON|||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||true|false|0.6895_%2C_0.3105|false|false|1||false|true|true|SH3YL1:26751|true|true|true|true|true|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|10188763|260677|false|false|0|true|0|false|0.737327_%2C_0.262673|false|false|false|SNV|true|0x05010008000517053f000100|1|false|119|rs10188763]
+chr2	3519572	rs6422707	A	C	3016.89	PASS	FUNCOTATION=[ADI1|hg19|chr2|3519572|3519572|INTRON||SNP|A|A|C|g.chr2:3519572A>C|ENST00000327435.6|-|||c.e2+1825T>G|||0.428927680798005|CCAGCTGTAAAATTCCTCTCT|ADI1_ENST00000382093.5_DE_NOVO_START_IN_FRAME/AC142528.1_ENST00000450917.1_FIVE_PRIME_FLANK|||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||true|false|0.3085_%2C_0.6915|false|false|1||false|true|true|ADI1:55256|true|false|true|true|true|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|6422707|3519572|false|false|0|true|0|false|0.327621_%2C_0.672379|false|false|true|SNV|true|0x050100480005170136000100|1|false|116|rs6422707]
 chr2	10281514	rs17313542	C	T	321.25	PASS	FUNCOTATION=[C2orf48|hg19|chr2|10281514|10281514|DE_NOVO_START_IN_FRAME||SNP|C|C|T|g.chr2:10281514C>T|ENST00000381786.3|+|1|||||0.5785536159600998|CACCTAGCTACGCTCACTGAC||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||true|false|0.9497_%2C_0.05032|false|false|1||false|true|false|C2orf48:348738|true|true|false|true|true|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|17313542|10281514|false|false|0|true|0|false|0.949959_%2C_0.0500412|false|false|true|SNV|true|0x050100400005150537000101|1|false|123|rs17313542]
-chr2	20251675	rs1513829	G	C	720.25	PASS	FUNCOTATION=[LAPTM4A|hg19|chr2|20251675|20251675|DE_NOVO_START_IN_FRAME||SNP|G|G|C|g.chr2:20251675G>C|ENST00000175091.4|-|1|||||0.571072319201995|CTATTCCCGAGATGAGACCCG||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||true|false|0.4431_%2C_0.5569|false|false|1||false|true|true|LAPTM4A:9741|true|true|false|true|true|false|false|false|false|false|false|false|false|false|false|false|false|false|true|false|1513829|20251675|false|false|0|true|0|false|0.558696_%2C_0.441304|false|false|true|SNV|true|0x05010042000517053f000101|1|false|88|rs1513829]
-chr2	24395506	rs889830	T	C	2849.69	PASS	FUNCOTATION=[RP11-507M3.1|hg19|chr2|24395506|24395506|NONSTOP||SNP|T|T|C|g.chr2:24395506T>C|ENST00000584973.1|+|7|699|c.610T>C|c.(610-612)Tga>Cga|p.*204R|0.4688279301745636|CGGACTCAAGTGATCCTCCCA|AC008073.7_ENST00000428344.1_RNA/AC008073.7_ENST00000438414.1_RNA|||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||true|false|0.1865_%2C_0.8135|false|false|1||false|true|true|FAM228A:653140|true|false|false|true|true|false|false|false|false|false|false|false|false|false|false|false|false|false|true|false|889830|24395506|false|false|0|true|0|false|0.232209_%2C_0.767791|false|false|false|SNV|true|0x050100020005170136000100|1|false|86|rs889830]
+chr2	20251675	rs1513829	G	C	720.25	PASS	FUNCOTATION=[LAPTM4A|hg19|chr2|20251675|20251675|DE_NOVO_START_IN_FRAME||SNP|G|G|C|g.chr2:20251675G>C|ENST00000175091.4|-|1|||||0.571072319201995|CTATTCCCGAGATGAGACCCG|RP11-644K8.1_ENST00000452342.2_FIVE_PRIME_FLANK|||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||true|false|0.4431_%2C_0.5569|false|false|1||false|true|true|LAPTM4A:9741|true|true|false|true|true|false|false|false|false|false|false|false|false|false|false|false|false|false|true|false|1513829|20251675|false|false|0|true|0|false|0.558696_%2C_0.441304|false|false|true|SNV|true|0x05010042000517053f000101|1|false|88|rs1513829]
+chr2	24395506	rs889830	T	C	2849.69	PASS	FUNCOTATION=[FAM228A|hg19|chr2|24395506|24395506|FIVE_PRIME_FLANK||SNP|T|T|C|g.chr2:24395506T>C|ENST00000295150.3|+||||||0.4688279301745636|CGGACTCAAGTGATCCTCCCA|RP11-507M3.1_ENST00000584973.1_NONSTOP_p.*204R/AC008073.7_ENST00000428344.1_RNA/AC008073.7_ENST00000438414.1_RNA|||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||true|false|0.1865_%2C_0.8135|false|false|1||false|true|true|FAM228A:653140|true|false|false|true|true|false|false|false|false|false|false|false|false|false|false|false|false|false|true|false|889830|24395506|false|false|0|true|0|false|0.232209_%2C_0.767791|false|false|false|SNV|true|0x050100020005170136000100|1|false|86|rs889830]
 chr2	26477125	rs59947000	G	GACT	4547.73	PASS	FUNCOTATION=[HADHB|hg19|chr2|26477125|26477126|IN_FRAME_INS||INS|-|-|ACT|g.chr2:26477125_26477126insACT|ENST00000317799.5|+|2|107|c.3_4insACT|c.(4-6)act>ACTact|p.1_2insT|0.325|TTCCAGAATGACTATCTTGA|HADHB_ENST00000405867.3_IN_FRAME_INS_p.1_2insT/HADHB_ENST00000537713.1_IN_FRAME_INS_p.1_2insT/HADHB_ENST00000545822.1_FIVE_PRIME_UTR|||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||true|false|0.2905_%2C_0.7095|false|false|1||false|false|false|HADHB:3032|false|false|false|false|false|true|false|false|false|false|false|false|false|false|false|true|false|false|false|false|1064793144|26477125|false|false|0|false|0|false||false|false|true|DIV|false|0x050060400005000002100200|1|false|150|rs1064793144]
 chr2	69659126	rs4453725	A	T	1997.94	PASS	FUNCOTATION=[NFU1|hg19|chr2|69659126|69659126|MISSENSE||SNP|A|A|T|g.chr2:69659126A>T|ENST00000410022.2|-|2|280|c.74T>A|c.(73-75)aTg>aAg|p.M25K|0.32917705735660846|ATTCTTCAACATATGACAGAA|NFU1_ENST00000303698.3_START_CODON_SNP_p.M1K/NFU1_ENST00000394305.1_FIVE_PRIME_UTR/NFU1_ENST00000471185.1_INTRON|||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||true|false|0.6829_%2C_0.3171|false|false|1||false|true|true|NFU1:27247|true|true|false|true|true|true|false|false|false|false|false|true|false|false|false|true|false|false|false|true|4453725|69659126|true|false|1|true|0|false|0.641434_%2C_0.358566|false|false|true|SNV|true|0x050160400a0517053f100100|1|false|111|rs4453725]
 chr2	70120909	rs3214822	GA	G	722.12	PASS	FUNCOTATION=[SNRNP27|hg19|chr2|70120910|70120910|FIVE_PRIME_UTR||DEL|A|A|-|g.chr2:70120910delA|ENST00000244227.3|+|1|||||0.43640897755610975|GGGAAAAATGAAAGCTGTGTT|SNRNP27_ENST00000409116.1_FIVE_PRIME_FLANK/SNRNP27_ENST00000488986.1_FIVE_PRIME_FLANK||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||false_%7C_false|false_%7C_false|0_%7C_0|false_%7C_false|false_%7C_false|false_%7C_false|true_%7C_false|true_%7C_false|134_%7C_138|false_%7C_false|false_%7C_false|1_%7C_1|false_%7C_false|false_%7C_false|SNRNP27:11017_%7C_SNRNP27:11017|_%7C_|false_%7C_false|1_%7C_1|false_%7C_false|true_%7C_true|false_%7C_false|false_%7C_false|false_%7C_false|false_%7C_false|false_%7C_false|0.661217_%2C_0.338783_%7C_|false_%7C_false|false_%7C_false|0.6222_%2C_0.3778_%7C_0.6222_%2C_0.3778|3214822_%7C_397747233|false_%7C_false|false_%7C_false|0x05010002000517013e000200_%7C_0x050100020005000002000200|true_%7C_false|false_%7C_false|70120910_%7C_70120912|0_%7C_0|false_%7C_false|true_%7C_false|true_%7C_true|false_%7C_false|true_%7C_false|_%7C_|false_%7C_false|false_%7C_false|_%7C_|true_%7C_false|rs3214822_%7C_rs397747233|true_%7C_true|false_%7C_false|DIV_%7C_DIV|_%7C_|false_%7C_false]
@@ -250,7 +250,7 @@ chr2	71163086	rs11681642	T	C	1573.93	PASS	FUNCOTATION=[ATP6V1B1|hg19|chr2|711630
 chr2	85549868	rs4240199	A	G	1564.94	PASS	FUNCOTATION=[TGOLN2|hg19|chr2|85549868|85549868|MISSENSE||SNP|A|A|G|g.chr2:85549868A>G|ENST00000409232.3|-|4|1384|c.1322T>C|c.(1321-1323)cTa>cCa|p.L441P|0.38902743142144636|GTTAGGACTTAGGGGAAAAAA|TGOLN2_ENST00000377386.3_INTRON/TGOLN2_ENST00000398263.2_INTRON/TGOLN2_ENST00000409015.1_NONSTOP_p.*455Q/TGOLN2_ENST00000282120.2_INTRON|||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||true|false|0.221_%2C_0.779|false|false|1||false|true|false|TGOLN2:10618|true|true|true|true|true|false|false|false|false|false|false|true|true|false|false|false|false|false|false|true|4240199|85549868|false|false|0|true|0|false|0.29877_%2C_0.70123|false|false|false|SNV|true|0x050100080e0515053e000100|1|false|111|rs4240199]
 chr2	87069431	rs4514875	C	T	1607.93	PASS	FUNCOTATION=[CD8B|hg19|chr2|87069431|87069431|SILENT||SNP|C|C|T|g.chr2:87069431C>T|ENST00000390655.6|-|6|691|c.632G>A|c.(631-633)tGa>tAa|p.*211*|0.4239401496259352|ATTCTCTGCTCATTTGTAAAA|CD8B_ENST00000393759.2_INTRON/CD8B_ENST00000349455.3_INTRON/CD8B_ENST00000331469.2_INTRON/CD8B_ENST00000393761.2_INTRON|||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||true|false|0.3055_%2C_0.6945|false|false|1||false|true|true|CD8B:926|false|false|true|true|true|false|false|false|false|false|false|false|false|false|false|false|false|false|false|true|4514875|87069431|false|false|0|true|0|true||false|false|false|SNV|true|0x050100080305170036000100|1|false|111|rs4514875]
 chr2	89292401	rs143871003	T	C	140.25	PASS	FUNCOTATION=[IGKV1-8|hg19|chr2|89292401|89292401|DE_NOVO_START_IN_FRAME||SNP|T|T|C|g.chr2:89292401T>C|ENST00000495489.1|-|1|||||0.5261845386533666|CCCTCATGTCTATGCTGTGTC||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||true|false|0.7296_%2C_0.2704|false|false|1||false|true|true|LOC101928457:101928457|false|false|true|true|true|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|143871003|89292401|false|false|0|true|0|false|0.786293_%2C_0.213707|false|false|false|SNV|true|0x050100080005170036000100|1|false|134|rs143871003]
-chr2	99226173	rs1062847	T	A	426.25	PASS	FUNCOTATION=[UNC50|hg19|chr2|99226173|99226173|INTRON||SNP|T|T|A|g.chr2:99226173T>A|ENST00000357765.2|+|||c.e2-46T>A|||0.4763092269326683|GGTAGCCAAATGTTTCTTCAG|UNC50_ENST00000409975.1_START_CODON_SNP_p.M1K/UNC50_ENST00000409347.1_START_CODON_SNP_p.M1K|||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||true|false|0.7143_%2C_0.2857|false|false|1||false|true|true|UNC50:25972_%7C_COA5:493753|true|true|true|true|true|false|false|false|false|false|false|true|false|false|false|false|false|false|true|true|1062847|99226173|false|false|0|true|0|false|0.747184_%2C_0.252816|false|false|false|SNV|true|0x0501000a0a0517053f000100|1|false|86|rs1062847]
+chr2	99226173	rs1062847	T	A	426.25	PASS	FUNCOTATION=[UNC50|hg19|chr2|99226173|99226173|INTRON||SNP|T|T|A|g.chr2:99226173T>A|ENST00000357765.2|+|||c.e2-46T>A|||0.4763092269326683|GGTAGCCAAATGTTTCTTCAG|UNC50_ENST00000409975.1_START_CODON_SNP_p.M1K/UNC50_ENST00000409347.1_START_CODON_SNP_p.M1K/COA5_ENST00000328709.3_FIVE_PRIME_FLANK/COA5_ENST00000409997.1_FIVE_PRIME_FLANK/COA5_ENST00000483527.1_FIVE_PRIME_FLANK|||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||true|false|0.7143_%2C_0.2857|false|false|1||false|true|true|UNC50:25972_%7C_COA5:493753|true|true|true|true|true|false|false|false|false|false|false|true|false|false|false|false|false|false|true|true|1062847|99226173|false|false|0|true|0|false|0.747184_%2C_0.252816|false|false|false|SNV|true|0x0501000a0a0517053f000100|1|false|86|rs1062847]
 chr2	191184475	rs291466	A	G	741.25	PASS	FUNCOTATION=[HIBCH|hg19|chr2|191184475|191184475|START_CODON_SNP||SNP|A|A|G|g.chr2:191184475A>G|ENST00000359678.5|-|1|297|c.2T>C|c.(1-3)aTg>aCg|p.M1T|0.6633416458852868|GCGCTGCCCCATCGCCAAACA|HIBCH_ENST00000392332.3_START_CODON_SNP_p.M1T|||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||true|false|0.5683_%2C_0.4317|false|false|1||false|true|true|HIBCH:26275|true|true|false|true|true|false|false|false|false|false|false|true|false|false|false|false|false|false|false|true|291466|191184475|false|false|0|true|0|false|0.490041_%2C_0.509959|false|false|false|SNV|true|0x050100000a0517053f000101|1|false|79|rs291466]
 chr2	215595645	rs16852600	C	T	591.25	PASS	FUNCOTATION=[BARD1|hg19|chr2|215595645|215595645|INTRON||SNP|C|C|T|g.chr2:215595645C>T|ENST00000260947.4|-|||c.e10+413G>A|||0.3740648379052369|CTATACTGCTCATTTTGACAG|BARD1_ENST00000432456.1_START_CODON_SNP_p.M1I/BARD1_ENST00000449967.2_INTRON|||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||true|false|0.7246_%2C_0.2754|false|false|1||false|true|false|BARD1:580|true|true|true|true|true|false|true|false|false|false|false|false|false|false|false|true|true|false|false|false|16852600|215595645|false|false|0|true|0|false|0.769661_%2C_0.230339|false|false|false|SNV|true|0x05012808000515053f020100|1|false|123|rs16852600]
 chr2	219903258	rs6736922	T	G	1474.91	PASS	FUNCOTATION=[CCDC108|hg19|chr2|219903258|219903258|MISSENSE||SNP|T|T|G|g.chr2:219903258T>G|ENST00000341552.5|-|4|280|c.196A>C|c.(196-198)Atg>Ctg|p.M66L|0.5885286783042394|GTGAGCATCATGTCCTTGGGA|CCDC108_ENST00000295729.2_START_CODON_SNP_p.M1L/CCDC108_ENST00000409865.3_MISSENSE_p.M55L/CCDC108_ENST00000410037.1_START_CODON_SNP_p.M1L/CCDC108_ENST00000441968.1_MISSENSE_p.M66L/CCDC108_ENST00000453220.1_MISSENSE_p.M66L/CCDC108_ENST00000324264.6_START_CODON_SNP_p.M1L|||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||true|false|0.4105_%2C_0.5895|false|false|1||false|true|true|CFAP65:255101_%7C_CCDC108:255101|true|true|false|true|true|false|true|false|false|false|false|true|false|false|false|true|false|false|false|true|6736922|219903258|false|false|0|true|0|false|0.359812_%2C_0.640188|false|false|false|SNV|true|0x050120000a0517053f020100|1|false|116|rs6736922]
diff --git a/src/test/resources/org/broadinstitute/hellbender/tools/funcotator/validationTestData/regressionTestVariantSetHG38_expected.maf b/src/test/resources/org/broadinstitute/hellbender/tools/funcotator/validationTestData/regressionTestVariantSetHG38_expected.maf
index 3c9432a2a9b..bd00d5fed63 100644
--- a/src/test/resources/org/broadinstitute/hellbender/tools/funcotator/validationTestData/regressionTestVariantSetHG38_expected.maf
+++ b/src/test/resources/org/broadinstitute/hellbender/tools/funcotator/validationTestData/regressionTestVariantSetHG38_expected.maf
@@ -3422,9 +3422,9 @@
 ## source=GenomicsDBImport
 ## source=GenotypeGVCFs
 ## source=VariantFiltration
+## GATKCommandLine=<ID=Funcotator,CommandLine="Funcotator  --output /var/folders/4p/2b7bzvcx0x7bxvbztmwk__6rkr9cxg/T/regressionTestVariantSetHG38.vcf.funcotator7625036826077402440.maf --ref-version hg38 --data-sources-path /Users/jonn/Development/gatk/src/test/resources/large/funcotator/funcotator_dataSources/ --output-file-format MAF --variant /Users/jonn/Development/gatk/src/test/resources/org/broadinstitute/hellbender/tools/funcotator/validationTestData/regressionTestVariantSetHG38.vcf --reference /Users/jonn/Development/gatk/src/test/resources/large/Homo_sapiens_assembly38.fasta.gz --verbosity INFO  --remove-filtered-variants false --transcript-selection-mode CANONICAL --five-prime-flank-size 5000 --three-prime-flank-size 0 --lookahead-cache-bp 100000 --force-b37-to-hg19-reference-contig-conversion false --interval-set-rule UNION --interval-padding 0 --interval-exclusion-padding 0 --interval-merging-rule ALL --read-validation-stringency SILENT --seconds-between-progress-updates 10.0 --disable-sequence-dictionary-validation false --create-output-bam-index true --create-output-bam-md5 false --create-output-variant-index true --create-output-variant-md5 false --lenient false --add-output-sam-program-record true --add-output-vcf-command-line true --cloud-prefetch-buffer 40 --cloud-index-prefetch-buffer -1 --disable-bam-index-caching false --sites-only-vcf-output false --help false --version false --showHidden false --QUIET false --use-jdk-deflater false --use-jdk-inflater false --gcs-max-retries 20 --gcs-project-for-requester-pays  --disable-tool-default-read-filters false",Version=Unavailable-0.0.5,Date="November 16, 2018 12:40:46 PM EST">
 ## source=Funcotator
-## GATKCommandLine=<ID=Funcotator,CommandLine="Funcotator  --output /var/folders/kn/f9s03hnn0xgby73plpc89lz0_ns740/T/regressionTestVariantSetHG38.vcf.funcotator2205220153737473587.maf --ref-version hg38 --data-sources-path /Users/droazen/src/hellbender/src/test/resources/large/funcotator/funcotator_dataSources/ --output-file-format MAF --variant /Users/droazen/src/hellbender/src/test/resources/org/broadinstitute/hellbender/tools/funcotator/validationTestData/regressionTestVariantSetHG38.vcf --reference /Users/droazen/src/hellbender/src/test/resources/large/Homo_sapiens_assembly38.fasta.gz --verbosity INFO  --remove-filtered-variants false --transcript-selection-mode CANONICAL --five-prime-flank-size 5000 --three-prime-flank-size 0 --lookahead-cache-bp 100000 --force-b37-to-hg19-reference-contig-conversion false --interval-set-rule UNION --interval-padding 0 --interval-exclusion-padding 0 --interval-merging-rule ALL --read-validation-stringency SILENT --seconds-between-progress-updates 10.0 --disable-sequence-dictionary-validation false --create-output-bam-index true --create-output-bam-md5 false --create-output-variant-index true --create-output-variant-md5 false --lenient false --add-output-sam-program-record true --add-output-vcf-command-line true --cloud-prefetch-buffer 40 --cloud-index-prefetch-buffer -1 --disable-bam-index-caching false --sites-only-vcf-output false --help false --version false --showHidden false --QUIET false --use-jdk-deflater false --use-jdk-inflater false --gcs-max-retries 20 --gcs-project-for-requester-pays  --disable-tool-default-read-filters false",Version=Unavailable-0.0.5,Date="November 15, 2018 1:44:51 PM EST">
-##  Funcotator 0.0.5 | Date 20184415T014451 | Gencode 28  CANONICAL | Achilles 110303 | CGC full_2012_03-15 | CosmicFusion v83 | CosmicTissue v83 | DNARepairGenes 20171217T214737  | Familial_Cancer_Genes 20110905 | Gencode_XHGNC 90_38 | Gencode_XRefSeq 90_38 | HGNC Nov302017 | Simple_Uniprot 2014_12 | dbSNP 9606_b150
+##  Funcotator 0.0.5 | Date 20184016T124046 | Gencode 28  CANONICAL | Achilles 110303 | CGC full_2012_03-15 | CosmicFusion v83 | CosmicTissue v83 | DNARepairGenes 20171217T214737  | Familial_Cancer_Genes 20110905 | Gencode_XHGNC 90_38 | Gencode_XRefSeq 90_38 | HGNC Nov302017 | Simple_Uniprot 2014_12 | dbSNP 9606_b150
 Hugo_Symbol	Entrez_Gene_Id	Center	NCBI_Build	Chromosome	Start_Position	End_Position	Strand	Variant_Classification	Variant_Type	Reference_Allele	Tumor_Seq_Allele1	Tumor_Seq_Allele2	dbSNP_RS	dbSNP_Val_Status	Tumor_Sample_Barcode	Matched_Norm_Sample_Barcode	Match_Norm_Seq_Allele1	Match_Norm_Seq_Allele2	Tumor_Validation_Allele1	Tumor_Validation_Allele2	Match_Norm_Validation_Allele1	Match_Norm_Validation_Allele2	Verification_Status	Validation_Status	Mutation_Status	Sequencing_Phase	Sequence_Source	Validation_Method	Score	BAM_File	Sequencer	Tumor_Sample_UUID	Matched_Norm_Sample_UUID	Genome_Change	Annotation_Transcript	Transcript_Strand	Transcript_Exon	Transcript_Position	cDNA_Change	Codon_Change	Protein_Change	Other_Transcripts	Refseq_mRNA_Id	Refseq_prot_Id	SwissProt_acc_Id	SwissProt_entry_Id	Description	UniProt_AApos	UniProt_Region	UniProt_Site	UniProt_Natural_Variations	UniProt_Experimental_Info	GO_Biological_Process	GO_Cellular_Component	GO_Molecular_Function	COSMIC_overlapping_mutations	COSMIC_fusion_genes	COSMIC_tissue_types_affected	COSMIC_total_alterations_in_gene	Tumorscape_Amplification_Peaks	Tumorscape_Deletion_Peaks	TCGAscape_Amplification_Peaks	TCGAscape_Deletion_Peaks	DrugBank	ref_context	gc_content	CCLE_ONCOMAP_overlapping_mutations	CCLE_ONCOMAP_total_mutations_in_gene	CGC_Mutation_Type	CGC_Translocation_Partner	CGC_Tumor_Types_Somatic	CGC_Tumor_Types_Germline	CGC_Other_Diseases	DNARepairGenes_Activity_linked_to_OMIM	FamilialCancerDatabase_Syndromes	MUTSIG_Published_Results	OREGANNO_ID	OREGANNO_Values	tumor_f	t_alt_count	t_ref_count	n_alt_count	n_ref_count	Gencode_28 _hugoSymbol	Gencode_28 _ncbiBuild	Gencode_28 _chromosome	Gencode_28 _start	Gencode_28 _end	Gencode_28 _variantClassification	Gencode_28 _secondaryVariantClassification	Gencode_28 _variantType	Gencode_28 _refAllele	Gencode_28 _tumorSeqAllele1	Gencode_28 _tumorSeqAllele2	Gencode_28 _genomeChange	Gencode_28 _annotationTranscript	Gencode_28 _transcriptStrand	Gencode_28 _transcriptExon	Gencode_28 _transcriptPos	Gencode_28 _cDnaChange	Gencode_28 _codonChange	Gencode_28 _proteinChange	Gencode_28 _gcContent	Gencode_28 _referenceContext	Gencode_28 _otherTranscripts	Achilles_Top_Genes	CGC_Name	CGC_GeneID	CGC_Chr	CGC_Chr_Band	CGC_Cancer_Somatic_Mut	CGC_Cancer_Germline_Mut	CGC_Cancer_Syndrome	CGC_Tissue_Type	CGC_Cancer_Molecular_Genetics	CGC_Other_Germline_Mut	CosmicFusion_fusion_id	DNARepairGenes_Chromosome_location_linked_to_NCBI_MapView	DNARepairGenes_Accession_number_linked_to_NCBI_Entrez	Familial_Cancer_Genes_Synonym	Familial_Cancer_Genes_Reference	Gencode_XHGNC_hgnc_id	HGNC_HGNC_ID	HGNC_Status	HGNC_Locus_Type	HGNC_Locus_Group	HGNC_Previous_Symbols	HGNC_Previous_Name	HGNC_Synonyms	HGNC_Name_Synonyms	HGNC_Chromosome	HGNC_Date_Modified	HGNC_Date_Symbol_Changed	HGNC_Date_Name_Changed	HGNC_Accession_Numbers	HGNC_Enzyme_IDs	HGNC_Ensembl_Gene_ID	HGNC_Pubmed_IDs	HGNC_RefSeq_IDs	HGNC_Gene_Family_ID	HGNC_Gene_Family_Name	HGNC_CCDS_IDs	HGNC_Vega_ID	HGNC_OMIM_ID(supplied_by_OMIM)	HGNC_RefSeq(supplied_by_NCBI)	HGNC_UniProt_ID(supplied_by_UniProt)	HGNC_Ensembl_ID(supplied_by_Ensembl)	HGNC_UCSC_ID(supplied_by_UCSC)	Simple_Uniprot_alt_uniprot_accessions	dbSNP_AC	dbSNP_AF	dbSNP_AN	dbSNP_ASP	dbSNP_ASS	dbSNP_CAF	dbSNP_CDA	dbSNP_CFL	dbSNP_COMMON	dbSNP_DP	dbSNP_DSS	dbSNP_G5	dbSNP_G5A	dbSNP_GENEINFO	dbSNP_GNO	dbSNP_HD	dbSNP_INT	dbSNP_KGPhase1	dbSNP_KGPhase3	dbSNP_LSD	dbSNP_MTP	dbSNP_MUT	dbSNP_NOC	dbSNP_NOV	dbSNP_NSF	dbSNP_NSM	dbSNP_NSN	dbSNP_OM	dbSNP_OTH	dbSNP_PM	dbSNP_PMC	dbSNP_R3	dbSNP_R5	dbSNP_REF	dbSNP_RV	dbSNP_S3D	dbSNP_SAO	dbSNP_SLO	dbSNP_SSR	dbSNP_SYN	dbSNP_TOPMED	dbSNP_TPA	dbSNP_U3	dbSNP_U5	dbSNP_VC	dbSNP_VP	dbSNP_WGT	dbSNP_WTD	dbSNP_dbSNPBuildID	dbSNP_ID	HGNC_Entrez_Gene_ID(supplied_by_NCBI)	dbSNP_RSPOS	dbSNP_VLD	AC	AF	AN	BaseQRankSum	ClippingRankSum	DB	DP	DS	END	ExcessHet	FS	HaplotypeScore	InbreedingCoeff	MLEAC	MLEAF	MQ	MQRankSum	NEGATIVE_TRAIN_SITE	POSITIVE_TRAIN_SITE	QD	RAW_MQ	ReadPosRankSum	SOR	VQSLOD	culprit	
 __UNKNOWN__		__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	+	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__			__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	NA	NA	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__						__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__				__UNKNOWN__				__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__		__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__								__UNKNOWN__	__UNKNOWN__	__UNKNOWN__						ENAH	hg38	chr1	225519331	225519349	IN_FRAME_DEL		DEL	ATCCAGGCGTTCCTGCCGC	ATCCAGGCGTTCCTGCCGC	A	g.chr1:225519332_225519349delTCCAGGCGTTCCTGCCGC	ENST00000366844.7	-	5	1121_1138	c.651_668delGCGGCAGGAACGCCTGGA	c.(649-669)gagcggcaggaacgcctggat>gat	p.ERQERL217del	0.5382775119617225	CCTCTCCCGATCCAGGCGTTCCTGCCGCTCCAGGCGTT	ENAH_ENST00000635051.1_IN_FRAME_DEL_p.ERQERL221del/ENAH_ENST00000366843.6_IN_FRAME_DEL_p.ERQERL217del																																																false	false		false	false			false	false	false		false	false	false	false	false	false	false	false	false	false	false	false	false	false	false	false	false	false	false	false	false	false		false		false		false	false	false				false					false																										
 __UNKNOWN__		__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	+	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__			__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	NA	NA	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__						__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__				__UNKNOWN__				__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__		__UNKNOWN__	__UNKNOWN__	__UNKNOWN__	__UNKNOWN__								__UNKNOWN__	__UNKNOWN__	__UNKNOWN__						ENAH	hg38	chr1	225519331	225519349	IN_FRAME_INS		INS	ATCCAGGCGTTCCTGCCGC	ATCCAGGCGTTCCTGCCGC	ATCCAGGCGTTCCTGCCGCTCCAGGCGTTCCTGCCGC	g.chr1:225519331_225519332insTCCAGGCGTTCCTGCCGC	ENST00000366844.7	-	5	1121_1138	c.650_651insGCGGCAGGAACGCCTGGAGCGGCAGGAACGCCTGGA	c.(649-669)gagcggcaggaacgcctggat>gaGCGGCAGGAACGCCTGGAGCGGCAGGAACGCCTGGAt	p.217_224insRLERQE	0.5382775119617225	CCTCTCCCGATCCAGGCGTTCCTGCCGCTCCAGGCGTT	ENAH_ENST00000635051.1_IN_FRAME_INS_p.221_228insRLERQE/ENAH_ENST00000366843.6_IN_FRAME_INS_p.217_224insRLERQE																																																false	false		false	false			false	false	false		false	false	false	false	false	false	false	false	false	false	false	false	false	false	false	false	false	false	false	false	false	false		false		false		false	false	false				false					false																										
diff --git a/src/test/resources/org/broadinstitute/hellbender/tools/funcotator/validationTestData/regressionTestVariantSetHG38_expected.vcf b/src/test/resources/org/broadinstitute/hellbender/tools/funcotator/validationTestData/regressionTestVariantSetHG38_expected.vcf
index 6f9916fa6b1..a240f32430f 100644
--- a/src/test/resources/org/broadinstitute/hellbender/tools/funcotator/validationTestData/regressionTestVariantSetHG38_expected.vcf
+++ b/src/test/resources/org/broadinstitute/hellbender/tools/funcotator/validationTestData/regressionTestVariantSetHG38_expected.vcf
@@ -22,7 +22,7 @@
 ##GATKCommandLine.HaplotypeCaller=<ID=HaplotypeCaller,Version=3.5-0-g36282e4,Date="Sat Jun 18 23:52:15 UTC 2016",Epoch=1466293935858,CommandLineOptions="analysis_type=HaplotypeCaller input_file=[broad-gotc-prod-cromwell-execution/PairedEndSingleSampleWorkflow/27402c9a-4187-4228-89f1-415027c5dfe0/call-GatherBamFiles/NWD242235.bam] showFullBamList=false read_buffer_size=null phone_home=AWS gatk_key=null tag=NA read_filter=[OverclippedRead] disable_read_filter=[] intervals=[broad-references/hg38/v0/scattered_calling_intervals/temp_0038_of_50/scattered.interval_list] excludeIntervals=null interval_set_rule=UNION interval_merging=ALL interval_padding=0 reference_sequence=broad-references/hg38/v0/Homo_sapiens_assembly38.fasta nonDeterministicRandomSeed=false disableDithering=false maxRuntime=-1 maxRuntimeUnits=MINUTES downsampling_type=BY_SAMPLE downsample_to_fraction=null downsample_to_coverage=500 baq=OFF baqGapOpenPenalty=40.0 refactor_NDN_cigar_string=false fix_misencoded_quality_scores=false allow_potentially_misencoded_quality_scores=false useOriginalQualities=false defaultBaseQualities=-1 performanceLog=null BQSR=null quantize_quals=0 static_quantized_quals=null round_down_quantized=false disable_indel_quals=false emit_original_quals=false preserve_qscores_less_than=6 globalQScorePrior=-1.0 validation_strictness=SILENT remove_program_records=false keep_program_records=false sample_rename_mapping_file=null unsafe=null disable_auto_index_creation_and_locking_when_reading_rods=false no_cmdline_in_header=false sites_only=false never_trim_vcf_format_field=false bcf=false bam_compression=null simplifyBAM=false disable_bam_indexing=false generate_md5=false num_threads=1 num_cpu_threads_per_data_thread=1 num_io_threads=0 monitorThreadEfficiency=false num_bam_file_handles=null read_group_black_list=null pedigree=[] pedigreeString=[] pedigreeValidationType=STRICT allow_intervals_with_unindexed_bam=false generateShadowBCF=false variant_index_type=LINEAR variant_index_parameter=128000 reference_window_stop=0 logging_level=INFO log_to_file=null help=false version=false likelihoodCalculationEngine=PairHMM heterogeneousKmerSizeResolution=COMBO_MIN dbsnp=(RodBinding name= source=UNBOUND) dontTrimActiveRegions=false maxDiscARExtension=25 maxGGAARExtension=300 paddingAroundIndels=150 paddingAroundSNPs=20 comp=[] annotation=[StrandBiasBySample] excludeAnnotation=[ChromosomeCounts, FisherStrand, StrandOddsRatio, QualByDepth] group=[Standard, StandardHCAnnotation] debug=false useFilteredReadsForAnnotations=false emitRefConfidence=GVCF bamOutput=null bamWriterType=CALLED_HAPLOTYPES disableOptimizations=false annotateNDA=false heterozygosity=0.001 indel_heterozygosity=1.25E-4 standard_min_confidence_threshold_for_calling=-0.0 standard_min_confidence_threshold_for_emitting=-0.0 max_alternate_alleles=3 input_prior=[] sample_ploidy=2 genotyping_mode=DISCOVERY alleles=(RodBinding name= source=UNBOUND) contamination_fraction_to_filter=0.00468 contamination_fraction_per_sample_file=null p_nonref_model=null exactcallslog=null output_mode=EMIT_VARIANTS_ONLY allSitePLs=true gcpHMM=10 pair_hmm_implementation=VECTOR_LOGLESS_CACHING pair_hmm_sub_implementation=ENABLE_ALL always_load_vector_logless_PairHMM_lib=false phredScaledGlobalReadMismappingRate=45 noFpga=false sample_name=null kmerSize=[10, 25] dontIncreaseKmerSizesForCycles=false allowNonUniqueKmersInRef=false numPruningSamples=1 recoverDanglingHeads=false doNotRecoverDanglingBranches=false minDanglingBranchLength=4 consensus=false maxNumHaplotypesInPopulation=128 errorCorrectKmers=false minPruning=2 debugGraphTransformations=false allowCyclesInKmerGraphToGeneratePaths=false graphOutput=null kmerLengthForReadErrorCorrection=25 minObservationsForKmerToBeSolid=20 GVCFGQBands=[1, 2, 3, 4, 5, 6, 7, 8, 9, 10, 11, 12, 13, 14, 15, 16, 17, 18, 19, 20, 21, 22, 23, 24, 25, 26, 27, 28, 29, 30, 31, 32, 33, 34, 35, 36, 37, 38, 39, 40, 41, 42, 43, 44, 45, 46, 47, 48, 49, 50, 51, 52, 53, 54, 55, 56, 57, 58, 59, 60, 70, 80, 90, 99] indelSizeToEliminateInRefModel=10 min_base_quality_score=10 includeUmappedReads=false useAllelesTrigger=false doNotRunPhysicalPhasing=false keepRG=null justDetermineActiveRegions=false dontGenotype=false dontUseSoftClippedBases=false captureAssemblyFailureBAM=false errorCorrectReads=false pcr_indel_model=CONSERVATIVE maxReadsInRegionPerSample=10000 minReadsPerAlignmentStart=10 mergeVariantsViaLD=false activityProfileOut=null activeRegionOut=null activeRegionIn=null activeRegionExtension=null forceActive=false activeRegionMaxSize=null bandPassSigma=null maxProbPropagationDistance=50 activeProbabilityThreshold=0.002 filter_is_too_short_value=30 do_not_require_softclips_both_ends=false min_mapping_quality_score=20 filter_reads_with_N_cigar=false filter_mismatching_base_and_quals=false filter_bases_not_stored=false">
 ##GATKCommandLine=<ID=ApplyVQSR,CommandLine="ApplyVQSR  --recal-file /cromwell_root/broad-jg-dev-cromwell-execution/JointGenotyping/5e7eb2b3-7b92-4b97-824d-5206122613f6/call-IndelsVariantRecalibrator/hg38_trio.indels.recal --tranches-file /cromwell_root/broad-jg-dev-cromwell-execution/JointGenotyping/5e7eb2b3-7b92-4b97-824d-5206122613f6/call-IndelsVariantRecalibrator/hg38_trio.indels.tranches --output tmp.indel.recalibrated.vcf --truth-sensitivity-filter-level 99.7 --mode INDEL --variant /cromwell_root/broad-jg-dev-cromwell-execution/JointGenotyping/5e7eb2b3-7b92-4b97-824d-5206122613f6/call-HardFilterAndMakeSitesOnlyVcf/shard-0/hg38_trio.0.variant_filtered.vcf.gz --create-output-variant-index true  --use-allele-specific-annotations false --ignore-all-filters false --exclude-filtered false --interval-set-rule UNION --interval-padding 0 --interval-exclusion-padding 0 --interval-merging-rule ALL --read-validation-stringency SILENT --seconds-between-progress-updates 10.0 --disable-sequence-dictionary-validation false --create-output-bam-index true --create-output-bam-md5 false --create-output-variant-md5 false --lenient false --add-output-sam-program-record true --add-output-vcf-command-line true --cloud-prefetch-buffer 40 --cloud-index-prefetch-buffer -1 --disable-bam-index-caching false --help false --version false --showHidden false --verbosity INFO --QUIET false --use-jdk-deflater false --use-jdk-inflater false --gcs-max-retries 20 --disable-tool-default-read-filters false",Version=4.0.1.0,Date="April 4, 2018 7:18:52 PM UTC">
 ##GATKCommandLine=<ID=ApplyVQSR,CommandLine="ApplyVQSR  --recal-file /cromwell_root/broad-jg-dev-cromwell-execution/JointGenotyping/5e7eb2b3-7b92-4b97-824d-5206122613f6/call-SNPsVariantRecalibratorScattered/shard-0/hg38_trio.snps.0.recal --tranches-file /cromwell_root/broad-jg-dev-cromwell-execution/JointGenotyping/5e7eb2b3-7b92-4b97-824d-5206122613f6/call-SNPGatherTranches/hg38_trio.snps.gathered.tranches --output hg38_trio.filtered.0.vcf.gz --truth-sensitivity-filter-level 99.7 --mode SNP --variant tmp.indel.recalibrated.vcf --create-output-variant-index true  --use-allele-specific-annotations false --ignore-all-filters false --exclude-filtered false --interval-set-rule UNION --interval-padding 0 --interval-exclusion-padding 0 --interval-merging-rule ALL --read-validation-stringency SILENT --seconds-between-progress-updates 10.0 --disable-sequence-dictionary-validation false --create-output-bam-index true --create-output-bam-md5 false --create-output-variant-md5 false --lenient false --add-output-sam-program-record true --add-output-vcf-command-line true --cloud-prefetch-buffer 40 --cloud-index-prefetch-buffer -1 --disable-bam-index-caching false --help false --version false --showHidden false --verbosity INFO --QUIET false --use-jdk-deflater false --use-jdk-inflater false --gcs-max-retries 20 --disable-tool-default-read-filters false",Version=4.0.1.0,Date="April 4, 2018 7:19:11 PM UTC">
-##GATKCommandLine=<ID=Funcotator,CommandLine="Funcotator  --output /var/folders/kn/f9s03hnn0xgby73plpc89lz0_ns740/T/regressionTestVariantSetHG38.vcf.funcotator663877511264379755.vcf --ref-version hg38 --data-sources-path /Users/droazen/src/hellbender/src/test/resources/large/funcotator/funcotator_dataSources/ --output-file-format VCF --variant /Users/droazen/src/hellbender/src/test/resources/org/broadinstitute/hellbender/tools/funcotator/validationTestData/regressionTestVariantSetHG38.vcf --reference /Users/droazen/src/hellbender/src/test/resources/large/Homo_sapiens_assembly38.fasta.gz --verbosity INFO  --remove-filtered-variants false --transcript-selection-mode CANONICAL --five-prime-flank-size 5000 --three-prime-flank-size 0 --lookahead-cache-bp 100000 --force-b37-to-hg19-reference-contig-conversion false --interval-set-rule UNION --interval-padding 0 --interval-exclusion-padding 0 --interval-merging-rule ALL --read-validation-stringency SILENT --seconds-between-progress-updates 10.0 --disable-sequence-dictionary-validation false --create-output-bam-index true --create-output-bam-md5 false --create-output-variant-index true --create-output-variant-md5 false --lenient false --add-output-sam-program-record true --add-output-vcf-command-line true --cloud-prefetch-buffer 40 --cloud-index-prefetch-buffer -1 --disable-bam-index-caching false --sites-only-vcf-output false --help false --version false --showHidden false --QUIET false --use-jdk-deflater false --use-jdk-inflater false --gcs-max-retries 20 --gcs-project-for-requester-pays  --disable-tool-default-read-filters false",Version=Unavailable-0.0.5,Date="November 15, 2018 1:44:50 PM EST">
+##GATKCommandLine=<ID=Funcotator,CommandLine="Funcotator  --output /var/folders/4p/2b7bzvcx0x7bxvbztmwk__6rkr9cxg/T/regressionTestVariantSetHG38.vcf.funcotator5735669435229693646.vcf --ref-version hg38 --data-sources-path /Users/jonn/Development/gatk/src/test/resources/large/funcotator/funcotator_dataSources/ --output-file-format VCF --variant /Users/jonn/Development/gatk/src/test/resources/org/broadinstitute/hellbender/tools/funcotator/validationTestData/regressionTestVariantSetHG38.vcf --reference /Users/jonn/Development/gatk/src/test/resources/large/Homo_sapiens_assembly38.fasta.gz --verbosity INFO  --remove-filtered-variants false --transcript-selection-mode CANONICAL --five-prime-flank-size 5000 --three-prime-flank-size 0 --lookahead-cache-bp 100000 --force-b37-to-hg19-reference-contig-conversion false --interval-set-rule UNION --interval-padding 0 --interval-exclusion-padding 0 --interval-merging-rule ALL --read-validation-stringency SILENT --seconds-between-progress-updates 10.0 --disable-sequence-dictionary-validation false --create-output-bam-index true --create-output-bam-md5 false --create-output-variant-index true --create-output-variant-md5 false --lenient false --add-output-sam-program-record true --add-output-vcf-command-line true --cloud-prefetch-buffer 40 --cloud-index-prefetch-buffer -1 --disable-bam-index-caching false --sites-only-vcf-output false --help false --version false --showHidden false --QUIET false --use-jdk-deflater false --use-jdk-inflater false --gcs-max-retries 20 --gcs-project-for-requester-pays  --disable-tool-default-read-filters false",Version=Unavailable-0.0.5,Date="November 16, 2018 12:40:45 PM EST">
 ##GATKCommandLine=<ID=GenomicsDBImport,CommandLine="GenomicsDBImport  --genomicsdb-workspace-path genomicsdb --batch-size 50 --sample-name-map /cromwell_root/broad-jg-dev-storage/CCDG/WHI.test-3.sample_map --reader-threads 5 --intervals chr1:1-248956422 --interval-padding 500  --genomicsdb-segment-size 1048576 --genomicsdb-vcf-buffer-size 16384 --overwrite-existing-genomicsdb-workspace false --consolidate false --validate-sample-name-map false --interval-set-rule UNION --interval-exclusion-padding 0 --interval-merging-rule ALL --read-validation-stringency SILENT --seconds-between-progress-updates 10.0 --disable-sequence-dictionary-validation false --create-output-bam-index true --create-output-bam-md5 false --create-output-variant-index true --create-output-variant-md5 false --lenient false --add-output-sam-program-record true --add-output-vcf-command-line true --cloud-prefetch-buffer 0 --cloud-index-prefetch-buffer 0 --disable-bam-index-caching false --help false --version false --showHidden false --verbosity INFO --QUIET false --use-jdk-deflater false --use-jdk-inflater false --gcs-max-retries 20 --disable-tool-default-read-filters false",Version=4.0.1.0,Date="April 4, 2018 3:49:28 PM UTC">
 ##GATKCommandLine=<ID=GenotypeGVCFs,CommandLine="GenotypeGVCFs  --output output.vcf.gz --use-new-qual-calculator true --annotation-group StandardAnnotation --only-output-calls-starting-in-intervals true --dbsnp gs://broad-references/hg38/v0/Homo_sapiens_assembly38.dbsnp138.vcf --variant gendb://genomicsdb --intervals chr1:1-248956422 --reference /cromwell_root/broad-references/hg38/v0/Homo_sapiens_assembly38.fasta  --annotate-with-num-discovered-alleles false --heterozygosity 0.001 --indel-heterozygosity 1.25E-4 --heterozygosity-stdev 0.01 --standard-min-confidence-threshold-for-calling 10.0 --max-alternate-alleles 6 --max-genotype-count 1024 --sample-ploidy 2 --interval-set-rule UNION --interval-padding 0 --interval-exclusion-padding 0 --interval-merging-rule ALL --read-validation-stringency SILENT --seconds-between-progress-updates 10.0 --disable-sequence-dictionary-validation false --create-output-bam-index true --create-output-bam-md5 false --create-output-variant-index true --create-output-variant-md5 false --lenient false --add-output-sam-program-record true --add-output-vcf-command-line true --cloud-prefetch-buffer 40 --cloud-index-prefetch-buffer -1 --disable-bam-index-caching false --help false --version false --showHidden false --verbosity INFO --QUIET false --use-jdk-deflater false --use-jdk-inflater false --gcs-max-retries 20 --disable-tool-default-read-filters false",Version=4.0.1.0,Date="April 4, 2018 4:44:26 PM UTC">
 ##GATKCommandLine=<ID=VariantFiltration,CommandLine="VariantFiltration  --output hg38_trio.0.variant_filtered.vcf.gz --filter-expression ExcessHet > 54.69 --filter-name ExcessHet --variant /cromwell_root/broad-jg-dev-cromwell-execution/JointGenotyping/5e7eb2b3-7b92-4b97-824d-5206122613f6/call-GenotypeGVCFs/shard-0/output.vcf.gz  --cluster-size 3 --cluster-window-size 0 --mask-extension 0 --mask-name Mask --filter-not-in-mask false --missing-values-evaluate-as-failing false --invalidate-previous-filters false --invert-filter-expression false --invert-genotype-filter-expression false --set-filtered-genotype-to-no-call false --interval-set-rule UNION --interval-padding 0 --interval-exclusion-padding 0 --interval-merging-rule ALL --read-validation-stringency SILENT --seconds-between-progress-updates 10.0 --disable-sequence-dictionary-validation false --create-output-bam-index true --create-output-bam-md5 false --create-output-variant-index true --create-output-variant-md5 false --lenient false --add-output-sam-program-record true --add-output-vcf-command-line true --cloud-prefetch-buffer 40 --cloud-index-prefetch-buffer -1 --disable-bam-index-caching false --help false --version false --showHidden false --verbosity INFO --QUIET false --use-jdk-deflater false --use-jdk-inflater false --gcs-max-retries 20 --disable-tool-default-read-filters false",Version=4.0.1.0,Date="April 4, 2018 5:33:28 PM UTC">