Mercurial > repos > morinlab > maftools
changeset 0:6280c3bad263 draft
Uploaded
| author | morinlab |
|---|---|
| date | Wed, 30 Nov 2016 15:17:58 -0500 |
| parents | |
| children | a67d4b423594 |
| files | maftools/.shed.yml maftools/all_fasta.loc.sample maftools/citation_macros.xml maftools/gene_cloud.R maftools/gene_cloud.xml maftools/lollipop.R maftools/lollipop.xml maftools/maf_summary.R maftools/maf_summary.xml maftools/oncodriveclust.R maftools/oncodriveclust.xml maftools/oncodriveclust_merge.R maftools/oncoplot.R maftools/oncoplot.xml maftools/oncostrip.R maftools/oncostrip.xml maftools/oncostripfix.R maftools/rainfall.R maftools/rainfall.xml maftools/tcga_laml.maf maftools/titv.R maftools/titv.xml maftools/tool_data_table_conf.xml.sample maftools/trisig.R maftools/trisig.xml |
| diffstat | 25 files changed, 5035 insertions(+), 0 deletions(-) [+] |
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--- /dev/null Thu Jan 01 00:00:00 1970 +0000 +++ b/maftools/.shed.yml Wed Nov 30 15:17:58 2016 -0500 @@ -0,0 +1,4 @@ +categories: [] +description: maftools +name: maftools +owner: morinlab
--- /dev/null Thu Jan 01 00:00:00 1970 +0000 +++ b/maftools/all_fasta.loc.sample Wed Nov 30 15:17:58 2016 -0500 @@ -0,0 +1,18 @@ +#This file lists the locations and dbkeys of all the fasta files +#under the "genome" directory (a directory that contains a directory +#for each build). The script extract_fasta.py will generate the file +#all_fasta.loc. This file has the format (white space characters are +#TAB characters): +# +#<unique_build_id> <dbkey> <display_name> <file_path> +# +#So, all_fasta.loc could look something like this: +# +#apiMel3 apiMel3 Honeybee (Apis mellifera): apiMel3 /path/to/genome/apiMel3/apiMel3.fa +#hg19canon hg19 Human (Homo sapiens): hg19 Canonical /path/to/genome/hg19/hg19canon.fa +#hg19full hg19 Human (Homo sapiens): hg19 Full /path/to/genome/hg19/hg19full.fa +# +#Your all_fasta.loc file should contain an entry for each individual +#fasta file. So there will be multiple fasta files for each build, +#such as with hg19 above. +#
--- /dev/null Thu Jan 01 00:00:00 1970 +0000 +++ b/maftools/citation_macros.xml Wed Nov 30 15:17:58 2016 -0500 @@ -0,0 +1,22 @@ +<macros> + <xml name="morinlab_citation"> + <citation type="doi">10.1101/089631</citation> + </xml> + <xml name="galaxy_citation"> + <citation> + @article{ + goecks2010galaxy, + title={Galaxy: a comprehensive approach for supporting accessible, reproducible, and transparent computational research in the life sciences}, + author={Goecks, Jeremy and Nekrutenko, Anton and Taylor, James and others}, + journal={Genome Biol}, + volume={11}, + number={8}, + pages={R86}, + year={2010} + } + </citation> + </xml> + <xml name="maftools_citation"> + <citation type="doi">10.1101/052662</citation> + </xml> +</macros>
--- /dev/null Thu Jan 01 00:00:00 1970 +0000 +++ b/maftools/gene_cloud.R Wed Nov 30 15:17:58 2016 -0500 @@ -0,0 +1,53 @@ +require(maftools); +library(argparse); + +### + +parser <- ArgumentParser(description="Create a Gene Lollipop using Maftools"); + +parser$add_argument( + "--input_maf", "-maf", + required="True", + help="Input Variants in MAF format" + ); + +parser$add_argument( + "--min_mutations", "-m", + required="True", + type="integer", + help="Minimum number of mutations for each included gene" + ) + +parser$add_argument( + "--gene_mask_list", "-sl",nargs='?', + help="Input gene blacklist separated by newline (optional)", default=0 + ); + +parser$add_argument( + "--output_pdf", "-o", + required="True", + help="Output PDF" + ) + +args <- parser$parse_args(); + +### + + + +if(args$gene_mask_list != 0){ + + all_genes <- read.table(args$gene_mask_list, stringsAsFactors=FALSE)[,1] + + + laml = read.maf(maf = args$input_maf, removeSilent = T, useAll = T) + pdf(args$output_pdf) + geneCloud(input = laml, minMut = args$min_mutations,genesToIgnore=all_genes) + dev.off() +} else{ + + laml = read.maf(maf = args$input_maf, removeSilent = T, useAll = T) + pdf(args$output_pdf) + geneCloud(input = laml, minMut = args$min_mutations) + dev.off() +} \ No newline at end of file
--- /dev/null Thu Jan 01 00:00:00 1970 +0000 +++ b/maftools/gene_cloud.xml Wed Nov 30 15:17:58 2016 -0500 @@ -0,0 +1,72 @@ +<tool id="gene_cloud" name="Gene Cloud Plot" version="0.9.30"> + + <description> + creates a cloud plot where gene names are sized by mutation rate + </description> + + <command detect_errors="aggressive"> + + touch gene_list.txt; + + #if $gene_input_type.gene_input_type_selector.value == "other": + echo $gene_input_type.gene > gene_list.txt; + #else: + cat $gene_input_type.gene_file > gene_list.txt; + #end if + Rscript $__tool_directory__/gene_cloud.R + --input_maf $input_maf + --min_mutations $min_mutations + --output_pdf $output + --gene_mask_list gene_list.txt + + </command> + + <inputs> + <param type="data" format="maf" name="input_maf" label="MAF File"/> + <conditional name="gene_input_type"> + <param name="gene_input_type_selector" type="select" label="Choose how to input samples"> + <option value="file" selected="True">Gene Blacklist File</option> + <option value="other">Single Gene</option> + </param> + <when value="file"> + <param name="gene_file" type="data" format="txt" label="Gene Blacklist File" help="list of genes separated by newlines" /> + </when> + <when value="other"> + <param name="gene" type="text" label="Gene" help="type a valid gene name" /> + </when> + </conditional> + <param type="integer" min="1" value="3" name="min_mutations" label="Minimum mutation count to include gene"/> + </inputs> + + <outputs> + <data format="pdf" name="output"/> + </outputs> + <citations> + <citation type="bibtex"> + @article {Albuquerque089631, + author = {Albuquerque, Marco A and Grande, Bruno M and Ritch, Elie and Jessa, Selin and Krzywinski, Martin I and Grewal, Jasleen and Shah, Sohrab and Boutros, Paul and Morin, Ryan}, + title = {Enhancing Knowledge Discovery from Cancer Genomics Data with Galaxy}, + year = {2016}, + doi = {10.1101/089631}, + publisher = {Cold Spring Harbor Labs Journals}, + URL = {http://biorxiv.org/content/early/2016/11/26/089631}, + eprint = {http://biorxiv.org/content/early/2016/11/26/089631.full.pdf}, + journal = {bioRxiv} + } + + </citation> + <citation type="bibtex"> + @misc{ + goecks2010galaxy, + title={Galaxy: a comprehensive approach for supporting accessible, reproducible, and transparent computational research in the life sciences}, + author={Goecks, Jeremy and Nekrutenko, Anton and Taylor, James and others}, + journal={Genome Biol}, + volume={11}, + number={8}, + pages={R86}, + year={2010} + } + </citation> + <citation type="doi">10.1101/052662</citation> + </citations> +</tool>
--- /dev/null Thu Jan 01 00:00:00 1970 +0000 +++ b/maftools/lollipop.R Wed Nov 30 15:17:58 2016 -0500 @@ -0,0 +1,61 @@ +require(maftools); +library(argparse); + +### + +parser <- ArgumentParser(description="Create a Gene Lollipop using Maftools"); + +parser$add_argument( + "--input_maf", "-maf", + required="True", + help="Input Variants in MAF format" + ); + +parser$add_argument( + "--gene_list", "-gl", + required="True", + help="Input gene list with separated by newline" + ); + +parser$add_argument( + "--aacol", "-ac", + default=0, + help="Optionally provide the name of the column that contains the amino acid annotation in your MAF file"); + +parser$add_argument( + "--output_directory", "-o", + required="True", + help="Output directory to store gene plots" + ) + +args <- parser$parse_args(); + +### + +all_genes <- read.table(args$gene_list, stringsAsFactors=FALSE)[,1] +mutmaf = read.maf(maf = args$input_maf, removeSilent = T, useAll = T) +count = 1 +for (gene in all_genes) { + output_name = paste(args$output_directory, paste(gene, "_", count, ".pdf", sep=""), sep="/") + #clean up some oddities in formatting that disagree with MAFtools + mut = mutmaf@data + mut$HGVSp_Short = gsub("\\?","*",mut$HGVSp_Short) + mut$HGVSp_Short = gsub("fs.+","fs",mut$HGVSp_Short) + mutmaf@data = mut + pdf(output_name) + if(args$aacol !=0){ + lollipopPlot(maf = mutmaf, gene = gene, AACol = args$aacol, labelPos = 'all') + } + else{ + res = tryCatch({ + lollipopPlot(maf = mutmaf, gene = gene, AACol = 'HGVSp_Short', labelPos = 'all') + + }, warning = function(war){ + print("...") + }, error = function(err){ + print(paste("skipping",gene,"due to lack of protein annotation")) + }) + } + dev.off() + count <- count + 1 + }
--- /dev/null Thu Jan 01 00:00:00 1970 +0000 +++ b/maftools/lollipop.xml Wed Nov 30 15:17:58 2016 -0500 @@ -0,0 +1,73 @@ +<tool id="lollipop" name="Lollipop Plot" version="0.9.30"> + + <description> + gene summary plots + </description> + + <command detect_errors="aggressive"> + + mkdir outputs; + touch gene_list.txt; + #if $gene_input_type.gene_input_type_selector.value == "other": + echo $gene_input_type.gene > gene_list.txt; + #else: + cat $gene_input_type.gene_file > gene_list.txt; + #end if + + Rscript $__tool_directory__/lollipop.R + --input_maf $input_maf + --gene_list gene_list.txt + --output_directory \$(pwd)/outputs; + + </command> + + <inputs> + <param type="data" format="maf" name="input_maf" label="MAF File"/> + <conditional name="gene_input_type"> + <param name="gene_input_type_selector" type="select" label="Choose how to input genes"> + <option value="file" selected="True">Gene File</option> + <option value="other">Other</option> + </param> + <when value="file"> + <param name="gene_file" type="data" format="txt" label="Gene File" help="list of genes separated by newlines" /> + </when> + <when value="other"> + <param name="gene" type="text" value="TP53" label="Gene" help="type the single gene" /> + </when> + </conditional> + </inputs> + + <outputs> + <collection name="list_output" type="list" description="Gene Lollipop Plots"> + <discover_datasets pattern="__name_and_ext__" directory="outputs"/> + </collection> + </outputs> + <citations> + <citation type="bibtex"> + @article {Albuquerque089631, + author = {Albuquerque, Marco A and Grande, Bruno M and Ritch, Elie and Jessa, Selin and Krzywinski, Martin I and Grewal, Jasleen and Shah, Sohrab and Boutros, Paul and Morin, Ryan}, + title = {Enhancing Knowledge Discovery from Cancer Genomics Data with Galaxy}, + year = {2016}, + doi = {10.1101/089631}, + publisher = {Cold Spring Harbor Labs Journals}, + URL = {http://biorxiv.org/content/early/2016/11/26/089631}, + eprint = {http://biorxiv.org/content/early/2016/11/26/089631.full.pdf}, + journal = {bioRxiv} + } + + </citation> + <citation type="bibtex"> + @misc{ + goecks2010galaxy, + title={Galaxy: a comprehensive approach for supporting accessible, reproducible, and transparent computational research in the life sciences}, + author={Goecks, Jeremy and Nekrutenko, Anton and Taylor, James and others}, + journal={Genome Biol}, + volume={11}, + number={8}, + pages={R86}, + year={2010} + } + </citation> + <citation type="doi">10.1101/052662</citation> + </citations> +</tool>
--- /dev/null Thu Jan 01 00:00:00 1970 +0000 +++ b/maftools/maf_summary.R Wed Nov 30 15:17:58 2016 -0500 @@ -0,0 +1,51 @@ +require(maftools); +library(argparse); + +### + +parser <- ArgumentParser(description="Create a Gene Lollipop using Maftools"); + +parser$add_argument( + "--input_maf", "-maf", + required="True", + help="Input Variants in MAF format" + ); + +parser$add_argument( + "--gene_mask_list", "-sl",nargs='?', + help="Input gene blacklist separated by newline (optional)", default=0 +); + +parser$add_argument( + "--num_genes", "-n", + required="True", + type="integer", + help="Number of genes to include (top N)" + ); + +parser$add_argument( + "--output_pdf", "-o", + required="True", + help="Output directory to store gene plots" + ); + +args <- parser$parse_args(); + +### + +if(args$gene_mask_list !=0){ +all_genes <- read.table(args$gene_mask_list, stringsAsFactors=FALSE)[,1] +#replace the maf file with a filtered version before loading it +temp.maf = read.csv(args$input_maf,sep="\t",stringsAsFactors = FALSE) +temp.out = temp.maf[!temp.maf[,"Hugo_Symbol"] %in% all_genes,] +write.table(temp.out,file="out.maf",sep="\t",quote=FALSE,row.names=FALSE) +laml = read.maf(maf = "out.maf", removeSilent = T, useAll = T) +pdf(args$output_pdf) +plotmafSummary(maf = laml, rmOutlier = T, addStat = 'median', dashboard = TRUE,top=args$num_genes) +dev.off() +}else{ +laml = read.maf(maf = args$input_maf, removeSilent = T, useAll = T) +pdf(args$output_pdf) +plotmafSummary(maf = laml, rmOutlier = T, addStat = 'median', dashboard = TRUE,top=args$num_genes) +dev.off() +} \ No newline at end of file
--- /dev/null Thu Jan 01 00:00:00 1970 +0000 +++ b/maftools/maf_summary.xml Wed Nov 30 15:17:58 2016 -0500 @@ -0,0 +1,69 @@ +<tool id="maf_summary" name="MAF Summary Plot" version="0.9.30"> + + <description> + summarizes maf statistics into single multiplot + </description> + + <command detect_error="aggressive"> + + #if $gene_input_type.gene_input_type_selector.value == "other": + echo $gene_input_type.gene > gene_list.txt; + #else: + cat $gene_input_type.gene_file > gene_list.txt; + #end if + Rscript $__tool_directory__/maf_summary.R + --input_maf $input_maf + --output_pdf $output + --num_genes $topn + --gene_mask_list gene_list.txt; + </command> + + <inputs> + <param type="data" format="maf" name="input_maf" label="MAF File"/> + <conditional name="gene_input_type"> + <param name="gene_input_type_selector" type="select" label="Choose how to input genes for your blacklist"> + <option value="file" selected="True">Gene Blacklist File</option> + <option value="other">Single Gene</option> + </param> + <when value="file"> + <param name="gene_file" type="data" format="txt" label="Gene Blacklist File" help="list of genes separated by newlines" /> + </when> + <when value="other"> + <param name="gene" type="text" value="MUC4" label="Gene" help="type a valid gene name" /> + </when> + </conditional> + <param type="integer" min="1" value="20" name="topn" label="Top N genes to include in output"/> + </inputs> + + <outputs> + <data format="pdf" name="output"/> + </outputs> + <citations> + <citation type="bibtex"> + @article {Albuquerque089631, + author = {Albuquerque, Marco A and Grande, Bruno M and Ritch, Elie and Jessa, Selin and Krzywinski, Martin I and Grewal, Jasleen and Shah, Sohrab and Boutros, Paul and Morin, Ryan}, + title = {Enhancing Knowledge Discovery from Cancer Genomics Data with Galaxy}, + year = {2016}, + doi = {10.1101/089631}, + publisher = {Cold Spring Harbor Labs Journals}, + URL = {http://biorxiv.org/content/early/2016/11/26/089631}, + eprint = {http://biorxiv.org/content/early/2016/11/26/089631.full.pdf}, + journal = {bioRxiv} + } + + </citation> + <citation type="bibtex"> + @misc{ + goecks2010galaxy, + title={Galaxy: a comprehensive approach for supporting accessible, reproducible, and transparent computational research in the life sciences}, + author={Goecks, Jeremy and Nekrutenko, Anton and Taylor, James and others}, + journal={Genome Biol}, + volume={11}, + number={8}, + pages={R86}, + year={2010} + } + </citation> + <citation type="doi">10.1101/052662</citation> + </citations> +</tool>
--- /dev/null Thu Jan 01 00:00:00 1970 +0000 +++ b/maftools/oncodriveclust.R Wed Nov 30 15:17:58 2016 -0500 @@ -0,0 +1,66 @@ +require(maftools); +library(argparse); + +### + +parser <- ArgumentParser(description="Create a Gene Lollipop using Maftools"); + +parser$add_argument( + "--input_maf", "-maf", + required="True", + help="Input Variants in MAF format" + ); + +parser$add_argument( + "--gene_blacklist", "-gl", + help="Input gene list with separated by newline" + ); + +parser$add_argument( + "--min_mut", "-mm", + default=5, + help="Minimum number of mutations seen in the gene for it to be included in the calculation"); + +parser$add_argument( + "--aacol", "-ac", + help="Optionally provide the name of the column that contains the amino acid annotation in your MAF file"); + +parser$add_argument( + "--output_detail", "-o", + required="True", + help="Output text file for oncodriveclust detail" + ) + +parser$add_argument( + "--output_plot", "-p", + required="True", + help="Output pdf file for oncodriveclust detail" + ) + +args <- parser$parse_args(); + +### + + +laml = read.maf(maf = args$input_maf, removeSilent = T, useAll = T) +aacol = 'HGVSp_Short' +if(!is.null(args$aacol)){ +aacol = args$aacol +} + +if(is.null(args$gene_blacklist)){ + laml.sig = oncodrive(maf =laml, AACol = aacol, pvalMethod = 'zscore',minMut = args$min_mut) + write.table(laml.sig,file=args$output_detail, quote=FALSE) + pdf(args$output_plot) + plotOncodrive(res=laml.sig,fdrCutOff=0.05,useFraction=TRUE) + dev.off() +}else{ + + all_genes <- read.table(args$gene_blacklist, stringsAsFactors=FALSE)[,1] + + laml.sig = oncodrive(maf =laml, AACol = aacol, pvalMethod = 'zscore',minMut = args$min_mut,ignoreGenes=all_genes) + write.table(laml.sig,file=args$output_detail, quote=FALSE) + pdf(args$output_plot) + plotOncodrive(res=laml.sig,fdrCutOff=0.05,useFraction=TRUE) + dev.off() +} \ No newline at end of file
--- /dev/null Thu Jan 01 00:00:00 1970 +0000 +++ b/maftools/oncodriveclust.xml Wed Nov 30 15:17:58 2016 -0500 @@ -0,0 +1,104 @@ +<tool id="oncodriveclust" name="OncodriveClust" version="0.1"> + + <description> + Run Oncodriveclust on mutations in cohort-wide MAF + </description> + + <command detect_errors="aggressive"> + + + touch gene_list.txt; + #if $gene_input_type.gene_input_type_selector.value == "other": + echo $gene_input_type.gene > gene_list.txt; + #elif $gene_input_type.gene_input_type_selector.value == "file" + cat $gene_input_type.gene_file > gene_list.txt; + #end if + + Rscript $__tool_directory__/oncodriveclust_merge.R + --input_maf $input_maf + --min_mut $min_mut + --fdr $fdr + --output_plot $out_plot + --output_detail $out_detail + #if $gene_input_type.gene_input_type_selector.value == "other" or $gene_input_type.gene_input_type_selector.value == "file": + --gene_blacklist gene_list.txt; + #else: + ; + #end if + + cut -f 1,28 $out_detail | perl -ne 'chomp;(\$a,\$b) = split;next if \$b >0.3;next if /Hugo/;print "\$a\n"' > $sig_genes; + + </command> + + <inputs> + <param type="data" format="maf" name="input_maf" label="MAF File"/> + <param type="integer" min="1" value="5" name="min_mut" label="Minimum mutation count to include gene in analysis"/> + <param type="float" value="0.1" name="fdr" label="FDR for genes plotted and returned as significant"/> + <conditional name="gene_input_type"> + <param name="gene_input_type_selector" type="select" label="Choose how to input blacklist genes"> + <option value="file" selected="True">Gene File</option> + <option value="other">Other</option> + <option value="none">None</option> + </param> + <when value="file"> + <param name="gene_file" type="data" format="txt" label="Gene File" help="list of genes separated by newlines" /> + </when> + <when value="other"> + <param name="gene" type="text" value="TP53" label="Gene" help="type the single gene" /> + </when> + + </conditional> + </inputs> + + <outputs> + <data format="pdf" name="out_plot"/> + <data format="txt" name="out_detail"/> + <data format="txt" name="sig_genes"/> + </outputs> + <citations> + <citation type="bibtex"> + @article {Albuquerque089631, + author = {Albuquerque, Marco A and Grande, Bruno M and Ritch, Elie and Jessa, Selin and Krzywinski, Martin I and Grewal, Jasleen and Shah, Sohrab and Boutros, Paul and Morin, Ryan}, + title = {Enhancing Knowledge Discovery from Cancer Genomics Data with Galaxy}, + year = {2016}, + doi = {10.1101/089631}, + publisher = {Cold Spring Harbor Labs Journals}, + URL = {http://biorxiv.org/content/early/2016/11/26/089631}, + eprint = {http://biorxiv.org/content/early/2016/11/26/089631.full.pdf}, + journal = {bioRxiv} + } + + </citation> + <citation type="bibtex"> + @misc{ + goecks2010galaxy, + title={Galaxy: a comprehensive approach for supporting accessible, reproducible, and transparent computational research in the life sciences}, + author={Goecks, Jeremy and Nekrutenko, Anton and Taylor, James and others}, + journal={Genome Biol}, + volume={11}, + number={8}, + pages={R86}, + year={2010} + } + </citation> + <citation type="doi">10.1101/052662</citation> + <citation type="bibtex"> + + @ARTICLE{Tamborero2013-yq, + title = "{OncodriveCLUST}: exploiting the positional clustering of + somatic mutations to identify cancer genes", + author = "Tamborero, David and Gonzalez-Perez, Abel and Lopez-Bigas, + Nuria", + journal = "Bioinformatics", + volume = 29, + number = 18, + pages = "2238--2244", + month = "15~" # sep, + year = 2013, + language = "en" + } + + + </citation> + </citations> +</tool>
--- /dev/null Thu Jan 01 00:00:00 1970 +0000 +++ b/maftools/oncodriveclust_merge.R Wed Nov 30 15:17:58 2016 -0500 @@ -0,0 +1,835 @@ +require(maftools); +library(argparse); +require(data.table); + +### + +parser <- ArgumentParser(description="Create a Gene Lollipop using Maftools"); + +parser$add_argument( + "--input_maf", "-maf", + required="True", + help="Input Variants in MAF format" + ); + +parser$add_argument( + "--gene_blacklist", "-gl", + help="Input gene list with separated by newline" + ); + +parser$add_argument( + "--min_mut", "-mm", + default=5, + help="Minimum number of mutations seen in the gene for it to be included in the calculation"); + +parser$add_argument( + "--fdr", "-f", + default=0.1, + help="FDR threshold to use in plots and returned gene list"); + +parser$add_argument( + "--aacol", "-ac", + help="Optionally provide the name of the column that contains the amino acid annotation in your MAF file"); + +parser$add_argument( + "--output_detail", "-o", + required="True", + help="Output text file for oncodriveclust detail" + ) + +parser$add_argument( + "--output_plot", "-p", + required="True", + help="Output pdf file for oncodriveclust detail" + ) + +args <- parser$parse_args(); + +### + + +aacol = 'HGVSp_Short' +if(!is.null(args$aacol)){ +aacol = args$aacol +} + +min_mut = as.integer(args$min_mut) + + +#--------------------- based on binaomial distribution, estimate threshhold. +get_threshold = function(gene_muts, gene_length){ + th = which(unlist(lapply(X = 2:gene_muts, FUN = function(x) dbinom(x = x, size = gene_muts, prob = 1/gene_length) )) < 0.01)[1] + return(th+1) + } + #-------------------- end of function. + +parse_prot_fix = function(dat, AACol, gl, m, calBg = FALSE, nBg){ + + if(is.null(AACol)){ + if(! 'AAChange' %in% colnames(dat)){ + message('Available fields:') + print(colnames(dat)) + stop('AAChange field not found in MAF. Use argument AACol to manually specifiy field name containing protein changes.') + } + }else{ + colnames(dat)[which(colnames(dat) == AACol)] = 'AAChange' + } + + all.prot.dat = dat[,.(Hugo_Symbol, Variant_Classification, AAChange)] + all.prot.dat = all.prot.dat[Variant_Classification != 'Splice_Site'] + #parse AAchanges to get postion + prot.spl = strsplit(x = as.character(all.prot.dat$AAChange), split = '.', fixed = TRUE) + prot.conv = sapply(prot.spl, function(x) x[length(x)]) + + all.prot.dat[,conv := prot.conv] + all.prot.dat = all.prot.dat[!conv == 'NULL'] + + #If conversions are in HGVSp_long (default HGVSp) format, we will remove strings Ter followed by anything (e.g; p.Asn1986GlnfsTer13) + pos = gsub(pattern = 'Ter.*', replacement = '',x = all.prot.dat$conv) + + #Following parsing takes care of most of HGVSp_short and HGVSp_long format + pos = gsub(pattern = '[[:alpha:]]', replacement = '', x = pos) + pos = gsub(pattern = '\\*$', replacement = '', x = pos) #Remove * if nonsense mutation ends with * + pos = gsub(pattern = '^\\*', replacement = '', x = pos) #Remove * if nonsense mutation starts with * + pos = gsub(pattern = '\\*.*', replacement = '', x = pos) #Remove * followed by position e.g, p.C229Lfs*18 + + pos = suppressWarnings( as.numeric(sapply(strsplit(x = pos, split = '_', fixed = TRUE), '[', 1)) ) + all.prot.dat[,pos := pos] + + if(nrow( all.prot.dat[is.na(all.prot.dat$pos),]) > 0){ + #message(paste('Removed', nrow( all.prot.dat[is.na(all.prot.dat$pos),]), 'mutations for which AA position was not available', sep = ' ')) + #print(prot.dat[is.na(prot.dat$pos),]) + all.prot.dat = all.prot.dat[!is.na(all.prot.dat$pos),] + } + + gene.sum = summarizeMaf_fix(maf = dat)$gene.summary + #gene.sum = merge.data.frame(x = gene.sum, y = gl, by = 'Hugo_Symbol', all.x = TRUE) + gene.sum = merge(x = gene.sum, y = gl, by = 'Hugo_Symbol', all.x = TRUE) + #gene.sum = gene.sum[!is.na(gene.sum$aa.length),] + gene.sum = gene.sum[!is.na(gene.sum$aa.length)] + + num_mut_colIndex = which(colnames(gene.sum) == 'total') + aalen_colIndex = which(colnames(gene.sum) == 'aa.length') + + #Get background threshold + gene.sum$th = apply(gene.sum, 1, function(x) get_threshold(gene_muts = as.numeric(x[num_mut_colIndex]), gene_length = as.numeric(x[aalen_colIndex]))) + #use only genes with atleast 2 (or m ) mutations. + gene.sum = gene.sum[total >= m] + + if(calBg){ + if(nrow(gene.sum) < nBg){ + #message("Not enough genes to build background. Using predefined values. (Mean = 0.279; SD = 0.13)") + return(NULL) + } else{ + syn.res = c() + pb <- txtProgressBar(min = 0, max = nrow(gene.sum), style = 3) #progress bar + + for(i in 1:nrow(gene.sum)){ + prot.dat = all.prot.dat[Hugo_Symbol == gene.sum[i, "Hugo_Symbol"]] + syn.res = rbind(syn.res, cluster_prot_fix(prot.dat = prot.dat, gene = gene.sum[i, "Hugo_Symbol"], th = gene.sum[i,"th"], protLen = gene.sum[i,"aa.length"])) + setTxtProgressBar(pb, i) + } + return(syn.res) + } + } else{ + nonsyn.res = c() + pb <- txtProgressBar(min = 0, max = nrow(gene.sum), style = 3) #progress bar + + for(i in 1:nrow(gene.sum)){ + hs = gene.sum[i, Hugo_Symbol] + #print(hs) + prot.dat = all.prot.dat[Hugo_Symbol %in% hs] + nonsyn.res = rbind(nonsyn.res, cluster_prot_fix(prot.dat = prot.dat, gene = hs, th = gene.sum[Hugo_Symbol %in% hs, th], protLen = gene.sum[Hugo_Symbol %in% hs, aa.length])) + setTxtProgressBar(pb, i) + } + return(nonsyn.res) + } + } + +cluster_prot_fix = function(prot.dat, gene, th, protLen){ + + mergeDist = 5 #hard coded inter event distance. + #prot.dat = all.prot.dat[Hugo_Symbol == gene] + + #Summarise counts per position + pos.counts = prot.dat[,.N,pos] + pos.counts = pos.counts[order(pos)] + + #classify position as meaningful if its greater than background threshhold. + pos.counts$cluster = ifelse(test = pos.counts$N >= th, yes = 'meaningful', no = 'nonMeaningful') + + #Just choose meaningful positions + clust.tbl = pos.counts[cluster %in% 'meaningful'] + nonclust.tbl = pos.counts[cluster %in% 'nonMeaningful'] + + if(nrow(clust.tbl) == 0){ + #message(paste('No meaningful positions found for', gene, sep=' ')) + return(NULL) + } + + clust.tbl$distance = c(0,diff(clust.tbl$pos)) #calculate inter event distance. + + #If more than one meaningful positions are found within a 5 aa distance, join them to form a cluster. + if(nrow(clust.tbl) > 1){ + + #initialize variables. + cstart = end = clust.tbl[1,pos] + n = clust.tbl[1,N] + cdf = c() + cluster = 1 + + #Go through entire table and update variables. + for(i in 2:nrow(clust.tbl)){ + pos = clust.tbl[i,pos] + + d = clust.tbl[i,distance] + + if(d < mergeDist){ + end = pos + n = n + clust.tbl[i,N] + }else{ + tempdf = data.frame(cluster = paste('cluster', cluster, sep='_'), start = cstart, end = end ,N = n) + cdf = rbind(cdf, tempdf) + cstart = end = pos + n = clust.tbl[i,N] + cluster = cluster + 1 + } + } + cdf = rbind(cdf, data.frame(cluster = paste('cluster', cluster, sep='_'), start = cstart, end = end ,N = n)) + } else { + cdf = data.frame(cluster = 'cluster_1', start = clust.tbl$pos, end = clust.tbl$pos ,N = clust.tbl$N) + } + + #merge adjacent variants to clusters. + for(i in 1:nrow(cdf)){ + tempcdf = cdf[i,] + nonclust.tbl$startDist = nonclust.tbl$pos - tempcdf$start + nonclust.tbl$endDist = nonclust.tbl$pos - tempcdf$end + + merge.adj.to.start = nonclust.tbl[startDist >= -5 & startDist <= 0] + if(nrow(merge.adj.to.start) > 0){ + tempcdf$start = merge.adj.to.start[which(merge.adj.to.start$startDist == min(merge.adj.to.start$startDist)),pos] + tempcdf$N = tempcdf$N + sum(merge.adj.to.start$N) + } + + merge.adj.to.end = nonclust.tbl[endDist <= 5 & endDist >= 0] + if(nrow(merge.adj.to.end) > 0){ + tempcdf$end = merge.adj.to.end[which(merge.adj.to.end$endDist == max(merge.adj.to.end$endDist)),pos] + tempcdf$N = tempcdf$N + sum(merge.adj.to.end$N) + } + cdf[i,] = tempcdf + } + cdf$Hugo_Symbol = gene + + #Calcluate cluster score. + + total.muts = nrow(prot.dat) #total variants for this gene. + clusterScores = c() + + for(i in 1:nrow(cdf)){ + temp.prot.dat = prot.dat[pos >= as.numeric(cdf$start[i]) & pos <= as.numeric(cdf$end[i])] + temp.prot.dat.summary = temp.prot.dat[,.N, pos] + temp.prot.dat.summary[,fraction:= N/total.muts] + + peak = temp.prot.dat.summary[N == max(N), pos] + + posVector = as.numeric(temp.prot.dat.summary[,pos]) + fractionMutVector = unlist(lapply(posVector, FUN = function(x) temp.prot.dat.summary[pos == x, fraction])) + distanceVector = suppressWarnings(abs(posVector - peak)) + + clusterScores = c(clusterScores, sum( fractionMutVector / (sqrt(2)^ distanceVector))) + + } + + cdf$clusterScore = clusterScores + + gene.clust.res = data.frame(Hugo_Symbol = gene, clusters = nrow(cdf), muts_in_clusters = sum(cdf$N), clusterScores = sum(cdf$clusterScore), protLen = protLen) + return(gene.clust.res) + } + + + + + +createOncoMatrix<- function(maf){ + + message('Creating oncomatrix (this might take a while)..') + + oncomat = data.table::dcast(data = maf[,.(Hugo_Symbol, Variant_Classification, Tumor_Sample_Barcode)], formula = Hugo_Symbol ~ Tumor_Sample_Barcode, + fun.aggregate = function(x) {ifelse(test = length(as.character(x))>1 , + no = as.character(x), yes = vcr(x, gis = FALSE)) + }, value.var = 'Variant_Classification', fill = '') + + #If maf contains only one sample converting to matrix is not trivial. + if(ncol(oncomat) == 2){ + genes = oncomat[,Hugo_Symbol] + sampleId = colnames(oncomat)[2] + oncomat = as.matrix(data.frame(row.names = genes, sample = oncomat[,2, with =FALSE])) + }else if(nrow(oncomat) == 1){ + #If MAF has only one gene + gene = oncomat[,Hugo_Symbol] + oncomat[,Hugo_Symbol:= NULL] + oncomat = as.matrix(oncomat) + rownames(oncomat) = gene + sampleID = colnames(oncomat) + }else{ + oncomat = as.matrix(oncomat) + rownames(oncomat) = oncomat[,1] + oncomat = oncomat[,-1] + } + + variant.classes = as.character(unique(maf[,Variant_Classification])) + variant.classes = c('',variant.classes, 'Multi_Hit') + names(variant.classes) = 0:(length(variant.classes)-1) + + #Complex variant classes will be assigned a single integer. + vc.onc = unique(unlist(apply(oncomat, 2, unique))) + vc.onc = vc.onc[!vc.onc %in% names(variant.classes)] + names(vc.onc) = rep(as.character(as.numeric(names(variant.classes)[length(variant.classes)])+1), length(vc.onc)) + variant.classes2 = c(variant.classes, vc.onc) + + oncomat.copy <- oncomat + #Make a numeric coded matrix + for(i in 1:length(variant.classes2)){ + oncomat[oncomat == variant.classes2[i]] = names(variant.classes2)[i] + } + + #If maf has only one gene + if(nrow(oncomat) == 1){ + mdf = t(matrix(as.numeric(oncomat))) + rownames(mdf) = gene + colnames(mdf) = sampleID + return(list(oncomat = oncomat.copy, nummat = mdf, vc = variant.classes)) + } + + #convert from character to numeric + mdf = as.matrix(apply(oncomat, 2, function(x) as.numeric(as.character(x)))) + rownames(mdf) = rownames(oncomat.copy) + + message('Sorting..') + + #If MAF file contains a single sample, simple sorting is enuf. + if(ncol(mdf) == 1){ + mdf = as.matrix(mdf[order(mdf, decreasing = TRUE),]) + colnames(mdf) = sampleId + + oncomat.copy = as.matrix(oncomat.copy[rownames(mdf),]) + colnames(oncomat.copy) = sampleId + + return(list(oncomat = oncomat.copy, nummat = mdf, vc = variant.classes)) + } else{ + #Sort by rows as well columns if >1 samples present in MAF + #Add total variants per gene + mdf = cbind(mdf, variants = apply(mdf, 1, function(x) { + length(x[x != "0"]) + })) + #Sort by total variants + mdf = mdf[order(mdf[, ncol(mdf)], decreasing = TRUE), ] + colnames(mdf) = gsub(pattern = "^X", replacement = "", colnames(mdf)) + nMut = mdf[, ncol(mdf)] + + mdf = mdf[, -ncol(mdf)] + + mdf.temp.copy = mdf #temp copy of original unsorted numeric coded matrix + + mdf[mdf != 0] = 1 #replacing all non-zero integers with 1 improves sorting (& grouping) + tmdf = t(mdf) #transposematrix + mdf = t(tmdf[do.call(order, c(as.list(as.data.frame(tmdf)), decreasing = TRUE)), ]) #sort + + mdf.temp.copy = mdf.temp.copy[rownames(mdf),] #organise original matrix into sorted matrix + mdf.temp.copy = mdf.temp.copy[,colnames(mdf)] + mdf = mdf.temp.copy + + #organise original character matrix into sorted matrix + oncomat.copy <- oncomat.copy[,colnames(mdf)] + oncomat.copy <- oncomat.copy[rownames(mdf),] + + return(list(oncomat = oncomat.copy, nummat = mdf, vc = variant.classes)) + } + } + +validateMaf<-function(maf, rdup = TRUE, isTCGA = isTCGA){ + + #necessary fields. + required.fields = c('Hugo_Symbol', 'Chromosome', 'Start_Position', 'End_Position', 'Reference_Allele', 'Tumor_Seq_Allele2', + 'Variant_Classification', 'Variant_Type', 'Tumor_Sample_Barcode') + + #Change column names to standard names; i.e, camel case + for(i in 1:length(required.fields)){ + colId = suppressWarnings(grep(pattern = required.fields[i], x = colnames(maf), ignore.case = TRUE)) + if(length(colId) > 0){ + colnames(maf)[colId] = required.fields[i] + } + } + + missing.fileds = required.fields[!required.fields %in% colnames(maf)] #check if any of them are missing + + if(length(missing.fileds) > 0){ + missing.fileds = paste(missing.fileds[1], sep = ',', collapse = ', ') + stop(paste('missing required fields from MAF:', missing.fileds)) #stop if any of required.fields are missing + } + + #convert "-" to "." in "Tumor_Sample_Barcode" to avoid complexity in naming + maf$Tumor_Sample_Barcode = gsub(pattern = '-', replacement = '.', x = as.character(maf$Tumor_Sample_Barcode)) + + if(rdup){ + maf = maf[, variantId := paste(Chromosome, Start_Position, Tumor_Sample_Barcode, sep = ':')] + if(nrow(maf[duplicated(variantId)]) > 0){ + message("NOTE: Removed ", nrow(maf[duplicated(variantId)]) ," duplicated variants") + maf = maf[!duplicated(variantId)] + } + maf[,variantId := NULL] + } + + if(nrow(maf[Hugo_Symbol %in% ""]) > 0){ + message('NOTE: Found ', nrow(maf[Hugo_Symbol %in% ""]), ' variants with no Gene Symbols.') + print(maf[Hugo_Symbol %in% "", required.fields, with = FALSE]) + message("Annotating them as 'UnknownGene' for convenience") + maf$Hugo_Symbol = ifelse(test = maf$Hugo_Symbol == "", yes = 'UnknownGene', no = maf$Hugo_Symbol) + } + + if(nrow(maf[is.na(Hugo_Symbol)]) > 0){ + message('NOTE: Found ', nrow(maf[is.na(Hugo_Symbol) > 0]), ' variants with no Gene Symbols.') + print(maf[is.na(Hugo_Symbol), required.fields, with =FALSE]) + message("Annotating them as 'UnknownGene' for convenience") + maf$Hugo_Symbol = ifelse(test = is.na(maf$Hugo_Symbol), yes = 'UnknownGene', no = maf$Hugo_Symbol) + } + + if(isTCGA){ + maf$Tumor_Sample_Barcode = substr(x = maf$Tumor_Sample_Barcode, start = 1, stop = 12) + } + + return(maf) + } + +read.maf_fix = function(maf, removeSilent = TRUE, useAll = TRUE, gisticAllLesionsFile = NULL, gisticAmpGenesFile = NULL, + gisticDelGenesFile = NULL, cnTable = NULL, removeDuplicatedVariants = TRUE, isTCGA = FALSE){ + + message('reading maf..') + + if(as.logical(length(grep(pattern = 'gz$', x = maf, fixed = FALSE)))){ + #If system is Linux use fread, else use gz connection to read gz file. + if(Sys.info()[['sysname']] == 'Windows'){ + maf.gz = gzfile(description = maf, open = 'r') + suppressWarnings(maf <- data.table(read.csv(file = maf.gz, header = TRUE, sep = '\t', stringsAsFactors = FALSE))) + close(maf.gz) + } else{ + maf = suppressWarnings(data.table::fread(input = paste('zcat <', maf), sep = '\t', stringsAsFactors = FALSE, verbose = FALSE, data.table = TRUE, showProgress = TRUE, header = TRUE)) + } + } else{ + suppressWarnings(maf <- data.table::fread(input = maf, sep = "\t", stringsAsFactors = FALSE, verbose = FALSE, data.table = TRUE, showProgress = TRUE, header = TRUE)) + } + + #validate MAF file + maf = validateMaf(maf = maf, isTCGA = isTCGA, rdup = removeDuplicatedVariants) + + #validation check for variants classified as Somatic in Mutation_Status field. + if(length(colnames(maf)[colnames(x = maf) %in% 'Mutation_Status']) > 0){ + if(!useAll){ + message('Using only Somatic variants from Mutation_Status. Switch on useAll to include everything.') + maf = maf[Mutation_Status %in% "Somatic"] + + if(nrow(maf) == 0){ + stop('No more Somatic mutations left after filtering for Mutation_Status! Maybe set useAll to TRUE ?') + } + + #maf = subset(maf, Mutation_Status == 'Somatic') + }else { + message('Using all variants.') + } + }else{ + message('Mutation_Status not found. Assuming all variants are Somatic and validated.') + } + #Variant Classification with Low/Modifier variant consequences. http://asia.ensembl.org/Help/Glossary?id=535 + silent = c("3'UTR", "5'UTR", "3'Flank", "Targeted_Region", "Silent", "Intron", + "RNA", "IGR", "Splice_Region", "5'Flank", "lincRNA") + #Variant Classification with High/Moderate variant consequences. http://asia.ensembl.org/Help/Glossary?id=535 + vc.nonSilent = c("Frame_Shift_Del", "Frame_Shift_Ins", "Splice_Site", "Translation_Start_Site", + "Nonsense_Mutation", "Nonstop_Mutation", "In_Frame_Del", + "In_Frame_Ins", "Missense_Mutation") + + maf.silent = maf[Variant_Classification %in% silent] + + if(removeSilent){ + + if(nrow(maf.silent) > 0){ + maf.silent.vc = maf.silent[,.N, .(Tumor_Sample_Barcode, Variant_Classification)] + maf.silent.vc.cast = data.table::dcast(data = maf.silent.vc, formula = Tumor_Sample_Barcode ~ Variant_Classification, fill = 0, value.var = 'N') #why dcast is not returning it as data.table ? + summary.silent = data.table(ID = c('Samples',colnames(maf.silent.vc.cast)[2:ncol(maf.silent.vc.cast)]), + N = c(nrow(maf.silent.vc.cast), colSums(maf.silent.vc.cast[,2:ncol(maf.silent.vc.cast), with = FALSE]))) + + maf = maf[!Variant_Classification %in% silent] #Remove silent variants from main table + message(paste('Excluding',nrow(maf.silent), 'silent variants.')) + print(summary.silent) + } else{ + message(message(paste('Excluding',nrow(maf.silent), 'silent variants.'))) + } + }else{ + message('Silent variants are being kept!') + } + + if(!is.null(gisticAllLesionsFile)){ + gisticIp = readGistic(gisticAllLesionsFile = gisticAllLesionsFile, gisticAmpGenesFile = gisticAmpGenesFile, + gisticDelGenesFile = gisticDelGenesFile, isTCGA = isTCGA) + gisticIp = gisticIp@data + + gisticIp[, id := paste(Hugo_Symbol, Tumor_Sample_Barcode, sep=':')] + gisticIp = gisticIp[!duplicated(id)] + gisticIp[,id := NULL] + + maf = rbind(maf, gisticIp, fill =TRUE) + oncomat = createOncoMatrix(maf) + }else if(!is.null(cnTable)){ + message('Processing copy number data..') + cnDat = data.table::fread(input = cnTable, sep = '\t', stringsAsFactors = FALSE, header = TRUE, colClasses = 'character') + colnames(cnDat) = c('Hugo_Symbol', 'Tumor_Sample_Barcode', 'Variant_Classification') + cnDat$Variant_Type = 'CNV' + suppressWarnings(cnDat[, id := paste(Hugo_Symbol, Tumor_Sample_Barcode, sep=':')]) + cnDat = cnDat[!duplicated(id)] + cnDat[,id := NULL] + maf = rbind(maf, cnDat, fill =TRUE) + oncomat = createOncoMatrix(maf) + }else{ + oncomat = createOncoMatrix(maf) + } + + #convert to factors + maf$Variant_Type = as.factor(as.character(maf$Variant_Type)) + maf$Variant_Classification = as.factor(as.character(maf$Variant_Classification)) + maf$Tumor_Sample_Barcode = as.factor(as.character(maf$Tumor_Sample_Barcode)) + + message('Summarizing..') + mafSummary = summarizeMaf_fix(maf = maf) + + #Create MAF object + m = MAF(data = maf, variants.per.sample = mafSummary$variants.per.sample, variant.type.summary = mafSummary$variant.type.summary, + variant.classification.summary = mafSummary$variant.classification.summary,gene.summary = mafSummary$gene.summary, + oncoMatrix = oncomat$oncomat, numericMatrix = oncomat$nummat, summary = mafSummary$summary, + classCode = oncomat$vc, maf.silent = maf.silent) + + + message('Done !') + return(m) +} + + +#' Class MAF +#' @description S4 class for storing summarized MAF. +#' @slot data data.table of original MAF file. +#' @slot variants.per.sample table containing variants per sample +#' @slot variant.type.summary table containing variant types per sample +#' @slot variant.classification.summary table containing variant classification per sample +#' @slot gene.summary table containing variant classification per gene +#' @slot oncoMatrix character matrix of dimension n*m where n is number of genes and m is number of variants +#' @slot numericMatrix numeric matrix of dimension n*m where n is number of genes and m is number of variants +#' @slot summary table with basic MAF summary stats +#' @slot classCode mapping between numeric values in numericMatrix and Variant Classification +#' @slot maf.silent subset of main MAF containing only silent variants +#' @exportClass MAF +#' @import methods +#' @seealso \code{\link{getGeneSummary}} \code{\link{getSampleSummary}} \code{\link{getFields}} + +## MAF object +MAF <- setClass(Class = 'MAF', slots = c(data = 'data.table', variants.per.sample = 'data.table', variant.type.summary = 'data.table', + variant.classification.summary = 'data.table', gene.summary = 'data.table', oncoMatrix = 'matrix', + numericMatrix = 'matrix', summary = 'data.table', classCode = 'character', + maf.silent = 'data.table')) + +setMethod(f = 'show', signature = 'MAF', definition = function(object){ + cat(paste('An object of class ', class(object), "\n")) + print(object@summary) + }) + + +summarizeMaf_fix = function(maf){ + + if('NCBI_Build' %in% colnames(maf)){ + NCBI_Build = unique(maf[!Variant_Type %in% 'CNV', NCBI_Build]) + NCBI_Build = NCBI_Build[!is.na(NCBI_Build)] + + if(length(NCBI_Build) > 1){ + message('NOTE: Mutiple reference builds found!') + NCBI_Build = do.call(paste, c(as.list(NCBI_Build), sep=";")) + message(NCBI_Build) + } + }else{ + NCBI_Build = NA + } + + if('Center' %in% colnames(maf)){ + Center = unique(maf[!Variant_Type %in% 'CNV', Center]) + #Center = Center[is.na(Center)] + if(length(Center) > 1){ + message('Mutiple centers found.') + Center = do.call(paste, c(as.list(Center), sep=";")) + print(Center) + } + }else{ + Center = NA + } + + #nGenes + nGenes = length(unique(maf[,Hugo_Symbol])) + + + + #Top 20 FLAGS - https://www.ncbi.nlm.nih.gov/pmc/articles/PMC4267152/ + flags = c("TTN", "MUC16", "OBSCN", "AHNAK2", "SYNE1", "FLG", "MUC5B", + "DNAH17", "PLEC", "DST", "SYNE2", "NEB", "HSPG2", "LAMA5", "AHNAK", + "HMCN1", "USH2A", "DNAH11", "MACF1", "MUC17") + + #Variants per TSB + tsb = maf[,.N, Tumor_Sample_Barcode] + colnames(tsb)[2] = 'Variants' + tsb = tsb[order(tsb$Variants, decreasing = TRUE),] + + #summarise and casting by 'Variant_Classification' + vc = maf[,.N, .(Tumor_Sample_Barcode, Variant_Classification )] + vc.cast = data.table::dcast(data = vc, formula = Tumor_Sample_Barcode ~ Variant_Classification, fill = 0, value.var = 'N') + + if(any(colnames(vc.cast) %in% c('Amp', 'Del'))){ + vc.cast.cnv = vc.cast[,colnames(vc.cast)[colnames(vc.cast) %in% c('Amp', 'Del')], with =FALSE] + vc.cast.cnv$CNV_total = rowSums(x = vc.cast.cnv) + + vc.cast = vc.cast[,!colnames(vc.cast)[colnames(vc.cast) %in% c('Amp', 'Del')], with =FALSE] + vc.cast[,total:=rowSums(vc.cast[,2:ncol(vc.cast), with = FALSE])] + + vc.cast = cbind(vc.cast, vc.cast.cnv) + vc.cast = vc.cast[order(total, CNV_total, decreasing = TRUE)] + + vc.mean = as.numeric(as.character(c(NA, NA, NA, NA, apply(vc.cast[,2:ncol(vc.cast), with = FALSE], 2, mean)))) + vc.median = as.numeric(as.character(c(NA, NA, NA, NA, apply(vc.cast[,2:ncol(vc.cast), with = FALSE], 2, median)))) + }else{ + vc.cast[,total:=rowSums(vc.cast[,2:ncol(vc.cast), with = FALSE])] + vc.cast = vc.cast[order(total, decreasing = TRUE)] + + vc.mean = as.numeric(as.character(c(NA, NA, NA, NA, apply(vc.cast[,2:ncol(vc.cast), with = FALSE], 2, mean)))) + vc.median = as.numeric(as.character(c(NA, NA, NA, NA, apply(vc.cast[,2:ncol(vc.cast), with = FALSE], 2, median)))) + } + + #summarise and casting by 'Variant_Type' + vt = maf[,.N, .(Tumor_Sample_Barcode, Variant_Type )] + vt.cast = data.table::dcast(data = vt, formula = Tumor_Sample_Barcode ~ Variant_Type, value.var = 'N', fill = 0) + if(any(colnames(vt.cast) %in% c('CNV'))){ + vt.cast.cnv = vt.cast[,colnames(vt.cast)[colnames(vt.cast) %in% c('CNV')], with =FALSE] + + vt.cast = vt.cast[,!colnames(vt.cast)[colnames(vt.cast) %in% c('CNV')], with =FALSE] + vt.cast[,total:=rowSums(vt.cast[,2:ncol(vt.cast), with = FALSE])] + vt.cast = vt.cast[order(total, decreasing = TRUE)] + + vt.cast = cbind(vt.cast, vt.cast.cnv) + vt.cast[order(total, CNV, decreasing = TRUE)] + }else{ + vt.cast[,total:=rowSums(vt.cast[,2:ncol(vt.cast), with = FALSE])] + vt.cast = vt.cast[order(total, decreasing = TRUE)] + } + + #summarise and casting by 'Hugo_Symbol' + hs = maf[,.N, .(Hugo_Symbol, Variant_Classification)] + hs.cast = data.table::dcast(data = hs, formula = Hugo_Symbol ~Variant_Classification, fill = 0, value.var = 'N') + #---- + if(any(colnames(hs.cast) %in% c('Amp', 'Del'))){ + hs.cast.cnv = hs.cast[,colnames(hs.cast)[colnames(hs.cast) %in% c('Amp', 'Del')], with =FALSE] + hs.cast.cnv$CNV_total = rowSums(x = hs.cast.cnv) + + hs.cast = hs.cast[,!colnames(hs.cast)[colnames(hs.cast) %in% c('Amp', 'Del')], with =FALSE] + hs.cast[,total:=rowSums(hs.cast[,2:ncol(hs.cast), with = FALSE])] + + hs.cast = cbind(hs.cast, hs.cast.cnv) + hs.cast = hs.cast[order(total, CNV_total, decreasing = TRUE)] + + }else{ + hs.cast[,total:=rowSums(hs.cast[,2:ncol(hs.cast), with = FALSE])] + hs.cast = hs.cast[order(total, decreasing = TRUE)] + + } + #Get in how many samples a gene ismutated + numMutatedSamples = maf[!Variant_Type %in% 'CNV', .(MutatedSamples = length(unique(Tumor_Sample_Barcode))), by = Hugo_Symbol] + #Merge and sort + hs.cast = merge(hs.cast, numMutatedSamples, by = 'Hugo_Symbol', all = TRUE) + hs.cast = hs.cast[order(MutatedSamples, total, decreasing = TRUE)] + #Make a summarized table + summary = data.table::data.table(ID = c('NCBI_Build', 'Center','Samples', 'nGenes',colnames(vc.cast)[2:ncol(vc.cast)]), + summary = c(NCBI_Build, Center, nrow(vc.cast), nGenes, colSums(vc.cast[,2:ncol(vc.cast), with =FALSE]))) + summary[,Mean := vc.mean] + summary[,Median := vc.median] + + print(summary) + + message("Frequently mutated genes..") + print(hs.cast) + + #Check for flags. + if(nrow(hs.cast) > 10){ + topten = hs.cast[1:10, Hugo_Symbol] + topten = topten[topten %in% flags] + if(length(topten) > 0){ + message('NOTE: Possible FLAGS among top ten genes:') + print(topten) + } + } + + return(list(variants.per.sample = tsb, variant.type.summary = vt.cast, variant.classification.summary = vc.cast, + gene.summary = hs.cast, summary = summary)) +} + +oncodrive_fix = function(maf, AACol = NULL, minMut = 5, pvalMethod = 'zscore', nBgGenes = 100, bgEstimate = TRUE, ignoreGenes = NULL){ + + #Proetin Length source + gl = system.file('extdata', 'prot_len.txt.gz', package = 'maftools') + + if(Sys.info()[['sysname']] == 'Windows'){ + gl.gz = gzfile(description = gl, open = 'r') + gl <- suppressWarnings( data.table(read.csv( file = gl.gz, header = TRUE, sep = '\t', stringsAsFactors = FALSE)) ) + close(gl.gz) + } else{ + gl = data.table::fread(input = paste('zcat <', gl), sep = '\t', stringsAsFactors = FALSE) + } + + pval.options = c('zscore', 'poisson', 'combined') + + if(!pvalMethod %in% pval.options){ + stop('pvalMethod can only be either zscore, poisson or combined') + } + + if(length(pvalMethod) > 1){ + stop('pvalMethod can only be either zscore, poisson or combined') + } + + + #syn variants for background + syn.maf = maf@maf.silent + #number of samples in maf + numSamples = as.numeric(maf@summary[3,summary]) + #Perform clustering and calculate background scores. + if(bgEstimate){ + if(nrow(syn.maf) == 0){ + message('No syn mutations found! Skipping background estimation. Using predefined values. (Mean = 0.279; SD = 0.13)') + bg.mean = 0.279 + bg.sd = 0.13 + }else{ + message('Estimating background scores from synonymous variants..') + syn.bg.scores = parse_prot_fix(dat = syn.maf, AACol = AACol, gl, m = minMut, calBg = TRUE, nBg = nBgGenes) + + #If number of genes to calculate background scores is not enough, use predefined scores. + if(is.null(syn.bg.scores)){ + message("Not enough genes to build background. Using predefined values. (Mean = 0.279; SD = 0.13)") + bg.mean = 0.279 + bg.sd = 0.13 + }else { + if(nrow(syn.bg.scores) < nBgGenes){ + message("Not enough genes to build background. Using predefined values. (Mean = 0.279; SD = 0.13)") + bg.mean = 0.279 + bg.sd = 0.13 + }else{ + bg.mean = mean(syn.bg.scores$clusterScores) + bg.sd = sd(syn.bg.scores$clusterScores) + message(paste('Estimated background mean: ', bg.mean)) + message(paste('Estimated background SD: ', bg.sd)) + } + } + } + }else{ + message("Using predefined values for background. (Mean = 0.279; SD = 0.13)") + bg.mean = 0.279 + bg.sd = 0.13 + } + + + + #non-syn variants + non.syn.maf = maf@data + #Variant Classification with Low/Modifier variant consequences. http://asia.ensembl.org/Help/Glossary?id=535 + silent = c("3'UTR", "5'UTR", "3'Flank", "Targeted_Region", "Silent", "Intron", + "RNA", "IGR", "Splice_Region", "5'Flank", "lincRNA", "Amp", "Del") + non.syn.maf = non.syn.maf[!Variant_Classification %in% silent] #Remove silent variants from main table + + #Remove genes to ignore + if(!is.null(ignoreGenes)){ + ignoreGenes.count = nrow(non.syn.maf[Hugo_Symbol %in% ignoreGenes]) + message(paste('Removed', ignoreGenes.count, 'variants belonging to', paste(ignoreGenes, collapse = ', ', sep=','))) + non.syn.maf = non.syn.maf[!Hugo_Symbol %in% ignoreGenes] + } + + #Perform clustering and calculate cluster scores for nonsyn variants. + message('Estimating cluster scores from non-syn variants..') + nonsyn.scores = parse_prot_fix(dat = non.syn.maf, AACol = AACol, gl = gl, m = minMut, calBg = FALSE, nBg = nBgGenes) + + if(pvalMethod == 'combined'){ + message('Comapring with background model and estimating p-values..') + nonsyn.scores$zscore = (nonsyn.scores$clusterScores - bg.mean) / bg.sd + nonsyn.scores$tPval = 1- pnorm(nonsyn.scores$zscore) + nonsyn.scores$tFdr = p.adjust(nonsyn.scores$tPval, method = 'fdr') + + nonsyn.scores = merge(getGeneSummary(maf), nonsyn.scores, by = 'Hugo_Symbol') + nonsyn.scores[,fract_muts_in_clusters := muts_in_clusters/total] + + counts.glm = glm(formula = total ~ protLen+clusters, family = poisson(link = identity), data = nonsyn.scores) #Poisson model + nonsyn.scores$Expected = counts.glm$fitted.values #Get expected number of events (mutations) from the model + + observed_mut_colIndex = which(colnames(nonsyn.scores) == 'total') + expected_mut_colIndex = which(colnames(nonsyn.scores) == 'Expected') + + #Poisson test to caluclate difference (p-value) + nonsyn.scores$poissonPval = apply(nonsyn.scores, 1, function(x) { + poisson.test(as.numeric(x[observed_mut_colIndex]), as.numeric(x[expected_mut_colIndex]))$p.value + }) + + nonsyn.scores$poissonFdr = p.adjust(nonsyn.scores$poissonPval) + nonsyn.scores = nonsyn.scores[order(poissonFdr)] + + nonsyn.scores$fdr = apply(nonsyn.scores[,.(tFdr, poissonFdr)], MARGIN = 1, FUN = min) + + } else if(pvalMethod == 'zscore'){ + #Oncodrive clust way of caluclating pvalues + #Calculate z scores; compare it to bg scores and estimate z-score, pvalues, corrected pvalues (fdr) (assumes normal distribution) + message('Comapring with background model and estimating p-values..') + nonsyn.scores$zscore = (nonsyn.scores$clusterScores - bg.mean) / bg.sd + nonsyn.scores$pval = 1- pnorm(nonsyn.scores$zscore) + nonsyn.scores$fdr = p.adjust(nonsyn.scores$pval, method = 'fdr') + + nonsyn.scores = merge(getGeneSummary(maf), nonsyn.scores, by = 'Hugo_Symbol') + nonsyn.scores[,fract_muts_in_clusters := muts_in_clusters/total] + #nonsyn.scores[,fract_MutatedSamples := MutatedSamples/numSamples] + nonsyn.scores = nonsyn.scores[order(fdr)] + }else{ + #Assuming poisson distribution of mutation counts + #Now model observed number of mutations as a function of number of clusters and protein length. Calculate expected number of events based on poisson distribution. + nonsyn.scores = merge(getGeneSummary(maf), nonsyn.scores, by = 'Hugo_Symbol') + nonsyn.scores[,fract_muts_in_clusters := muts_in_clusters/total] + + counts.glm = glm(formula = total ~ protLen+clusters, family = poisson(link = identity), data = nonsyn.scores) #Poisson model + nonsyn.scores$Expected = counts.glm$fitted.values #Get expected number of events (mutations) from the model + + observed_mut_colIndex = which(colnames(nonsyn.scores) == 'total') + expected_mut_colIndex = which(colnames(nonsyn.scores) == 'Expected') + + #Poisson test to caluclate difference (p-value) + nonsyn.scores$pval = apply(nonsyn.scores, 1, function(x) { + poisson.test(as.numeric(x[observed_mut_colIndex]), as.numeric(x[expected_mut_colIndex]))$p.value + }) + + nonsyn.scores$fdr = p.adjust(nonsyn.scores$pval) + nonsyn.scores = nonsyn.scores[order(fdr)] + } + message('Done !') + return(nonsyn.scores) + } + + +laml = read.maf_fix(maf = args$input_maf, removeSilent = F, useAll = T) + +if(is.null(args$gene_blacklist)){ + laml.sig = oncodrive_fix(maf =laml, AACol = aacol, pvalMethod = 'zscore',minMut = min_mut) + write.table(laml.sig,file=args$output_detail, quote=FALSE,row.names=FALSE,sep="\t") + pdf(args$output_plot) + plotOncodrive(res=laml.sig,fdrCutOff=as.numeric(args$fdr),useFraction=TRUE) + dev.off() + }else{ + all_genes <- read.table(args$gene_blacklist, stringsAsFactors=FALSE)[,1] + laml.sig = oncodrive_fix(maf =laml, AACol = aacol, pvalMethod = 'zscore',minMut = min_mut,ignoreGenes=all_genes) + write.table(laml.sig,file=args$output_detail, quote=FALSE,row.names=FALSE,sep="\t") + pdf(args$output_plot) + plotOncodrive(res=laml.sig,fdrCutOff=as.numeric(args$fdr),useFraction=TRUE) + dev.off() +} \ No newline at end of file
--- /dev/null Thu Jan 01 00:00:00 1970 +0000 +++ b/maftools/oncoplot.R Wed Nov 30 15:17:58 2016 -0500 @@ -0,0 +1,47 @@ +require(maftools); +library(argparse); + +### + +parser <- ArgumentParser(description="Create a Gene Lollipop using Maftools"); + +parser$add_argument( + "--input_maf", "-maf", + required="True", + help="Input Variants in MAF format" + ); + +parser$add_argument( + "--top", "-t", + required="True", + help="The Top [val] genes to include in plot" + ) + +parser$add_argument( + "--gene_mask_list", "-sl",nargs='?', + help="Input gene blacklist separated by newline (optional)", default=0 + ); + + +parser$add_argument( + "--output_pdf", "-o", + required="True", + help="Output directory to store gene plots" + ) + +args <- parser$parse_args(); + +### + +if(args$gene_mask_list != 0){ +all_genes <- read.table(args$gene_mask_list, stringsAsFactors=FALSE)[,1] +laml = read.maf(maf = args$input_maf, removeSilent = T, useAll = T) +pdf(args$output_pdf) +oncoplot(maf = laml, top=args$top,genesToIgnore=all_genes) +dev.off() +}else{ +laml = read.maf(maf = args$input_maf, removeSilent = T, useAll = T) +pdf(args$output_pdf) +oncoplot(maf = laml, top=args$top) +dev.off() +} \ No newline at end of file
--- /dev/null Thu Jan 01 00:00:00 1970 +0000 +++ b/maftools/oncoplot.xml Wed Nov 30 15:17:58 2016 -0500 @@ -0,0 +1,70 @@ +<tool id="oncoplot" name="MAF Oncoplot" version="0.9.30"> + + <description> + summarizes top mutated genes by mutual exclusivity + </description> + + <command detect_errors="aggressive"> + touch gene_list.txt; + + #if $gene_input_type.gene_input_type_selector.value == "other": + echo $gene_input_type.gene > gene_list.txt; + #else: + cat $gene_input_type.gene_file > gene_list.txt; + #end if + Rscript $__tool_directory__/oncoplot.R + --input_maf $input_maf + --top $top + --output_pdf $output + --gene_mask_list gene_list.txt; + </command> + + <inputs> + <param type="data" format="maf" name="input_maf" label="MAF File"/> + <conditional name="gene_input_type"> + <param name="gene_input_type_selector" type="select" label="Choose how to input samples"> + <option value="file" selected="True">Gene Blacklist File</option> + <option value="other">Single Gene</option> + </param> + <when value="file"> + <param name="gene_file" type="data" format="txt" label="Gene Blacklist File" help="list of genes separated by newlines" /> + </when> + <when value="other"> + <param name="gene" type="text" label="Gene" help="type a valid gene name" /> + </when> + </conditional> + <param type="integer" min="1" value="10" name="top" label="Top Gene Count"/> + </inputs> + + <outputs> + <data format="pdf" name="output"/> + </outputs> + <citations> + <citation type="bibtex"> + @article {Albuquerque089631, + author = {Albuquerque, Marco A and Grande, Bruno M and Ritch, Elie and Jessa, Selin and Krzywinski, Martin I and Grewal, Jasleen and Shah, Sohrab and Boutros, Paul and Morin, Ryan}, + title = {Enhancing Knowledge Discovery from Cancer Genomics Data with Galaxy}, + year = {2016}, + doi = {10.1101/089631}, + publisher = {Cold Spring Harbor Labs Journals}, + URL = {http://biorxiv.org/content/early/2016/11/26/089631}, + eprint = {http://biorxiv.org/content/early/2016/11/26/089631.full.pdf}, + journal = {bioRxiv} + } + + </citation> + <citation type="bibtex"> + @misc{ + goecks2010galaxy, + title={Galaxy: a comprehensive approach for supporting accessible, reproducible, and transparent computational research in the life sciences}, + author={Goecks, Jeremy and Nekrutenko, Anton and Taylor, James and others}, + journal={Genome Biol}, + volume={11}, + number={8}, + pages={R86}, + year={2010} + } + </citation> + <citation type="doi">10.1101/052662</citation> + </citations> +</tool>
--- /dev/null Thu Jan 01 00:00:00 1970 +0000 +++ b/maftools/oncostrip.R Wed Nov 30 15:17:58 2016 -0500 @@ -0,0 +1,312 @@ +require(maftools); +library(argparse); + +### + +parser <- ArgumentParser(description="Create a Gene Lollipop using Maftools"); + +parser$add_argument( + "--input_maf", "-maf", + required="True", + help="Input Variants in MAF format" + ); + +parser$add_argument( + "--gene_list", "-gl", + required="True", + help="Input gene list with separated by newline" + ); + + +parser$add_argument( + "--output_plot", "-o", + required="True", + help="Output directory to store gene plots" + ) + +parser$add_argument( + "--annotation_file", "-a", + help="Annotations for samples" + ) + +parser$add_argument( + "--sort_by", "-s", + required="True", + help="How to sort the matrix before visualizing, allowed options are 'anno' and 'gene'" + ) + +args <- parser$parse_args(); + +### + +sort = FALSE +sort_by_anno = FALSE +if(args$sort_by == "anno"){ +sort_by_anno=TRUE +print(paste("sort_by_anno",sort_by_anno)) +}else if(args$sort_by == "gene"){ +sort=TRUE +}else{ + + +} + +### + + +library(grid) +library(ComplexHeatmap) +oncostrip.fix <- function(maf, genes = NULL, sort = TRUE, annotation = NULL, annotationColor = NULL, sort_by_anno = FALSE, removeNonMutated = FALSE, top = 5, showTumorSampleBarcodes = FALSE, colors = NULL){ + + mat_origin = maf@numericMatrix + + if(ncol(mat_origin) < 2){ + stop('Cannot create oncoplot for single sample. Minimum two sample required ! ') + } + + if(nrow(mat_origin) <2){ + stop('Minimum two genes required !') + } + + #if user doesnt provide a gene vector, use top 5. + if(is.null(genes)){ + mat = mat_origin[1:top, ] + } else{ + mat = mat_origin[genes,] + } + + #remove nonmutated samples to improve visualization + if(removeNonMutated){ + tsb = colnames(mat) + tsb.exclude = colnames(mat[,colSums(mat) == 0]) + tsb.include = tsb[!tsb %in% tsb.exclude] + mat = mat[,tsb.include] + } + + #Sort + if(sort_by_anno){ + mat = sortByAnnotation(mat,maf,annotation) + }else{ + if(sort){ + + mat = sortByMutation(numMat = mat, maf = maf) + } + } + + char.mat = maf@oncoMatrix + char.mat = char.mat[rownames(mat),] + char.mat = char.mat[,colnames(mat)] + #final matrix for plotting + mat = char.mat + #New version of complexheatmap complains about '' , replacing them with random strinf xxx + mat[mat == ''] = 'xxx' + + #---------------------------------------Colors and vcs------------------------------------------------- + + if(is.null(colors)){ + col = c(RColorBrewer::brewer.pal(12,name = "Paired"), RColorBrewer::brewer.pal(11,name = "Spectral")[1:3],'black', 'red', 'green') + names(col) = names = c('Nonstop_Mutation','Frame_Shift_Del','IGR','Missense_Mutation','Silent','Nonsense_Mutation', + 'RNA','Splice_Site','Intron','Frame_Shift_Ins','Nonstop_Mutation','In_Frame_Del','ITD','In_Frame_Ins', + 'Translation_Start_Site',"Multi_Hit", 'Amp', 'Del') + }else{ + col = colors + } + + #Default background gray color. + bg = "#CCCCCC" + #New version of complexheatmap complains about '', will replace them with random tesx, xxx + col = c(col, 'xxx' = bg) + + + variant.classes = unique(unlist(as.list(apply(mat, 2, unique)))) + variant.classes = unique(unlist(strsplit(x = variant.classes, split = ';', fixed = TRUE))) + + variant.classes = variant.classes[!variant.classes %in% c('xxx')] + + type_col = structure(col[variant.classes], names = names(col[variant.classes])) + type_col = type_col[!is.na(type_col)] + + type_name = structure(variant.classes, names = variant.classes) + + variant.classes = variant.classes[!variant.classes %in% c('Amp', 'Del')] + + #Make annotation + if(!is.null(annotation)){ + annotation[,1] = gsub(pattern = '-', replacement = '.', x = annotation[,1]) + + if(nrow(annotation[duplicated(annotation$Tumor_Sample_Barcode),]) > 0){ + annotation = annotation[!duplicated(annotation$Tumor_Sample_Barcode),] + } + + rownames(annotation) = annotation[,1] + annotation = annotation[colnames(mat_origin),] + annotation = annotation[complete.cases(annotation),] + anno.df = data.frame(row.names = annotation[,1]) + anno.df = cbind(anno.df, annotation[,2:ncol(annotation)]) + colnames(anno.df) = colnames(annotation)[2:ncol(annotation)] + if(sort || sort_by_anno){ + sorted.order = colnames(mat) + anno.df.sorted = as.data.frame(anno.df[sorted.order,]) + rownames(anno.df.sorted) = sorted.order + colnames(anno.df.sorted) = colnames(anno.df) + anno.df = anno.df.sorted + } + + if(!is.null(annotationColor)){ + bot.anno = ComplexHeatmap::HeatmapAnnotation(df = anno.df, col = annotationColor) + }else{ + bot.anno = ComplexHeatmap::HeatmapAnnotation(anno.df) + } + } + + #------------------------------------Helper functions to add %, rowbar and colbar---------------------------------------------------- + ##This function adds percent rate + anno_pct = function(index) { + n = length(index) + pct = apply(mat_origin[rev(index), ], 1, function(x) sum(!grepl("^\\s*$", x))/length(x)) * 100 + pct = paste0(round(pct), "%") + grid::pushViewport(viewport(xscale = c(0, 1), yscale = c(0.5, n + 0.5))) + grid::grid.text(pct, x = 1, y = seq_along(index), default.units = "native", + just = "right", gp = grid::gpar(fontsize = 10)) + grid::upViewport() + } + + ha_pct = ComplexHeatmap::HeatmapAnnotation(pct = anno_pct, + width = grid::grobWidth(grid::textGrob("100%", gp = grid::gpar(fontsize = 10))), which = "row") + + ##Following two funcs add grids + add_oncoprint = function(type, x, y, width, height) { + grid::grid.rect(x, y, width - unit(0.5, "mm"), + height - grid::unit(1, "mm"), gp = grid::gpar(col = NA, fill = bg)) + + for (i in 1:length(variant.classes)) { + if (any(type %in% variant.classes[i])) { + grid::grid.rect(x, y, width - unit(0.5, "mm"), height - + grid::unit(1, "mm"), gp = grid::gpar(col = NA, fill = type_col[variant.classes[i]])) + } else if (any(type %in% 'Amp')) { + grid::grid.rect(x, y, width - unit(0.5, "mm"), height - + grid::unit(1, "mm"), gp = grid::gpar(col = NA, fill = bg)) + grid::grid.rect(x, y, width - unit(0.5, "mm"), height - + unit(15, 'mm'), gp = grid::gpar(col = NA, fill = type_col['Amp'])) + } else if (any(type %in% 'Del')) { + grid::grid.rect(x, y, width - unit(0.5, "mm"), height - + grid::unit(1, "mm"), gp = grid::gpar(col = NA, fill = bg)) + grid::grid.rect(x, y, width - unit(0.5, "mm"), height - grid::unit(15, "mm") + , gp = grid::gpar(col = NA, fill = type_col['Del'])) + } + } + } + + add_oncoprint2 = function(type, x, y, width, height) { + for (i in 1:length(variant.classes)) { + if (any(type %in% variant.classes[i])) { + grid::grid.rect(x, y, width - unit(0.5, "mm"), height - + grid::unit(1, "mm"), gp = grid::gpar(col = NA, fill = type_col[variant.classes[i]])) + } else if (any(type %in% 'Amp')) { + grid::grid.rect(x, y, width - unit(0.5, "mm"), height - + unit(15, 'mm'), gp = grid::gpar(col = NA, fill = type_col['Amp'])) + } else if (any(type %in% 'Del')) { + + grid::grid.rect(x, y, width - unit(0.5, "mm"), height - grid::unit(15, "mm") + , gp = grid::gpar(col = NA, fill = type_col['Del'])) + } + } + } + + #This is the main cel function which is passed to ComplexHeatmap::Hetamap() + celFun = function(j, i, x, y, width, height, fill) { + type = mat[i, j] + if(type != 'xxx'){ + typeList = unlist(strsplit(x = as.character(type), split = ';')) + if(length(typeList) > 1){ + for(i in 1:length(typeList)){ + add_oncoprint2(typeList[i], x, y, width, height) + } + }else{ + for(i in 1:length(typeList)){ + add_oncoprint(typeList[i], x, y, width, height) + } + } + + }else{ + add_oncoprint(type, x, y, width, height) + } + } + + #---------------------------------------------------------------------------------------- + #---------------------------------------------------------------------------------------- + + if(is.null(annotation)){ + ht = ComplexHeatmap::Heatmap(mat, rect_gp = grid::gpar(type = "none"), cell_fun = celFun, + row_names_gp = grid::gpar(fontsize = 10), show_column_names = showTumorSampleBarcodes, + show_heatmap_legend = FALSE, top_annotation_height = grid::unit(2, "cm")) + }else{ + ht = ComplexHeatmap::Heatmap(mat, rect_gp = grid::gpar(type = "none"), cell_fun = celFun, + row_names_gp = grid::gpar(fontsize = 10), show_column_names = showTumorSampleBarcodes, + show_heatmap_legend = FALSE, top_annotation_height = grid::unit(2, "cm"), + bottom_annotation = bot.anno) + } + + legend = grid::legendGrob(labels = type_name[names(type_col)], pch = 15, gp = grid::gpar(col = type_col), nrow = 2) + + ComplexHeatmap::draw(object = ht, newpage = FALSE, annotation_legend_side = "bottom", annotation_legend_list = list(legend)) +} + +sortByMutation<-function(numMat, maf){ + + geneOrder = getGeneSummary(x = maf)[,Hugo_Symbol] + numMat = numMat[geneOrder[geneOrder %in% rownames(numMat)],] + + numMat[numMat != 0] = 1 #replacing all non-zero integers with 1 improves sorting (& grouping) + tnumMat = t(numMat) #transposematrix + numMat = t(tnumMat[do.call(order, c(as.list(as.data.frame(tnumMat)), decreasing = TRUE)), ]) #sort + + return(numMat) + } + +sortByAnnotation <-function(numMat,maf, anno){ + + + + numMat[numMat != 0] = 1 #replacing all non-zero integers with 1 improves sorting (& grouping) + tnumMat = t(numMat) #transposematrix + rownames(anno) = gsub("-",".",anno[,1]) + anno.named = anno[colnames(numMat),2] + + names(anno.named) = anno[colnames(numMat),1] + geneOrder = getGeneSummary(x = maf)[,Hugo_Symbol] + + tndf = as.data.frame(tnumMat[,geneOrder[geneOrder %in% rownames(numMat)]]) + adf = as.data.frame(anno.named) + fulldf = cbind(adf,tndf) + + + numMat = t(tnumMat[do.call(order, c(as.list(fulldf))), ]) #sort + + + numMat = numMat[geneOrder[geneOrder %in% rownames(numMat)],] + + return(numMat) +} + + + +all_genes <- read.table(args$gene_list, stringsAsFactors=FALSE)[,1] +laml = read.maf(maf = args$input_maf, removeSilent = T, useAll = T) +count = 1 +pdf(args$output_plot,width=20,height=20) + + genes.have = laml@gene.summary[,Hugo_Symbol] + all_genes = all_genes[all_genes %in% genes.have] + + print("HELLO") + #oncostrip(maf = laml, gene = all_genes, showTumorSampleBarcodes= FALSE, sort=sort,sort_by_anno=sort_by_anno) + if(is.null(args$annotation_file)){ + oncostrip.fix(maf = laml, gene = all_genes, showTumorSampleBarcodes= FALSE, sort=sort,sort_by_anno=sort_by_anno) + }else{ + df = as.data.frame(read.table(args$annotation_file,sep="\t")) + print(df) + oncostrip.fix(maf = laml, gene = all_genes, showTumorSampleBarcodes= FALSE, sort=sort,sort_by_anno=sort_by_anno,annotation=df) + + } + dev.off() \ No newline at end of file
--- /dev/null Thu Jan 01 00:00:00 1970 +0000 +++ b/maftools/oncostrip.xml Wed Nov 30 15:17:58 2016 -0500 @@ -0,0 +1,99 @@ +<tool id="oncostrip" name="Oncostrip Plot" version="0.9.30"> + + <description> + Mutation strip + </description> + + <command detect_errors="aggressive"> + + mkdir outputs; + touch gene_list.txt; + #if $gene_input_type.gene_input_type_selector.value == "other": + echo $gene_input_type.gene > gene_list.txt; + #else: + cat $gene_input_type.gene_file > gene_list.txt; + #end if + + Rscript $__tool_directory__/oncostrip.R + --input_maf $input_maf + --gene_list gene_list.txt + --output_plot $output_plot + #if $include_anno.anno == "use_anno": + --anno $include_anno.anno_file + #end if + #if $sort_by == "anno": + --sort_by anno; + #elif $sort_by == "gene": + --sort_by gene; + #else: + --sort_by $sort_by ; + #end if + </command> + + <inputs> + <param type="data" format="maf" name="input_maf" label="MAF File"/> + <conditional name="gene_input_type"> + <param name="gene_input_type_selector" type="select" label="Choose how to input genes"> + <option value="file" selected="True">Gene File</option> + <option value="other">Other</option> + </param> + <when value="file"> + <param name="gene_file" type="data" format="txt" label="Gene File" help="list of genes separated by newlines" /> + </when> + <when value="other"> + <param name="gene" type="text" value="TP53" label="Gene" help="type the single gene" /> + </when> + </conditional> + + <param name="sort_by" type="select" label="Sort samples and genes in output?"> + <option value="none">No sorting</option> + <option value="gene">Sort genes and patients using mutation frequency</option> + <option value="anno">Sort on annotation, then mutation frequency</option> + </param> + + <conditional name="include_anno"> + <param name="anno" type="select" display="radio" label="Optional: include annotation information for each sample"> + <option value="use_anno" checked="false">Include</option> + <option value="no_anno" checked="true">Do not include</option> + </param> + <when value="use_anno"> + <param name="anno_file" type="data" format="txt" optional="true" label="Annotation file" help="text file with the first column listing each sample and remaining columns reserved for annotation" /> + + + </when> + + </conditional> + </inputs> + + <outputs> + <data format="pdf" name="output_plot"/> + </outputs> + <citations> + <citation type="bibtex"> + @article {Albuquerque089631, + author = {Albuquerque, Marco A and Grande, Bruno M and Ritch, Elie and Jessa, Selin and Krzywinski, Martin I and Grewal, Jasleen and Shah, Sohrab and Boutros, Paul and Morin, Ryan}, + title = {Enhancing Knowledge Discovery from Cancer Genomics Data with Galaxy}, + year = {2016}, + doi = {10.1101/089631}, + publisher = {Cold Spring Harbor Labs Journals}, + URL = {http://biorxiv.org/content/early/2016/11/26/089631}, + eprint = {http://biorxiv.org/content/early/2016/11/26/089631.full.pdf}, + journal = {bioRxiv} + } + + </citation> + <citation type="bibtex"> + @misc{ + goecks2010galaxy, + title={Galaxy: a comprehensive approach for supporting accessible, reproducible, and transparent computational research in the life sciences}, + author={Goecks, Jeremy and Nekrutenko, Anton and Taylor, James and others}, + journal={Genome Biol}, + volume={11}, + number={8}, + pages={R86}, + year={2010} + } + </citation> + <citation type="doi">10.1101/052662</citation> + </citations> +</tool>
--- /dev/null Thu Jan 01 00:00:00 1970 +0000 +++ b/maftools/oncostripfix.R Wed Nov 30 15:17:58 2016 -0500 @@ -0,0 +1,234 @@ +library(grid) +library(ComplexHeatmap) +oncostrip.fix <- function(maf, genes = NULL, sort = TRUE, annotation = NULL, annotationColor = NULL, sort_by_anno = FALSE, removeNonMutated = FALSE, top = 5, showTumorSampleBarcodes = FALSE, colors = NULL){ + + mat_origin = maf@numericMatrix + + if(ncol(mat_origin) < 2){ + stop('Cannot create oncoplot for single sample. Minimum two sample required ! ') + } + + if(nrow(mat_origin) <2){ + stop('Minimum two genes required !') + } + + #if user doesnt provide a gene vector, use top 5. + if(is.null(genes)){ + mat = mat_origin[1:top, ] + } else{ + mat = mat_origin[genes,] + } + + #remove nonmutated samples to improve visualization + if(removeNonMutated){ + tsb = colnames(mat) + tsb.exclude = colnames(mat[,colSums(mat) == 0]) + tsb.include = tsb[!tsb %in% tsb.exclude] + mat = mat[,tsb.include] + } + + #Sort + if(sort_by_anno){ + mat = sortByAnnotation(mat,maf,annotation) + }else{ + if(sort){ + + mat = sortByMutation(numMat = mat, maf = maf) + } + } + + char.mat = maf@oncoMatrix + char.mat = char.mat[rownames(mat),] + char.mat = char.mat[,colnames(mat)] + #final matrix for plotting + mat = char.mat + #New version of complexheatmap complains about '' , replacing them with random strinf xxx + mat[mat == ''] = 'xxx' + + #---------------------------------------Colors and vcs------------------------------------------------- + + if(is.null(colors)){ + col = c(RColorBrewer::brewer.pal(12,name = "Paired"), RColorBrewer::brewer.pal(11,name = "Spectral")[1:3],'black', 'red', 'green') + names(col) = names = c('Nonstop_Mutation','Frame_Shift_Del','IGR','Missense_Mutation','Silent','Nonsense_Mutation', + 'RNA','Splice_Site','Intron','Frame_Shift_Ins','Nonstop_Mutation','In_Frame_Del','ITD','In_Frame_Ins', + 'Translation_Start_Site',"Multi_Hit", 'Amp', 'Del') + }else{ + col = colors + } + + #Default background gray color. + bg = "#CCCCCC" + #New version of complexheatmap complains about '', will replace them with random tesx, xxx + col = c(col, 'xxx' = bg) + + + variant.classes = unique(unlist(as.list(apply(mat, 2, unique)))) + variant.classes = unique(unlist(strsplit(x = variant.classes, split = ';', fixed = TRUE))) + + variant.classes = variant.classes[!variant.classes %in% c('xxx')] + + type_col = structure(col[variant.classes], names = names(col[variant.classes])) + type_col = type_col[!is.na(type_col)] + + type_name = structure(variant.classes, names = variant.classes) + + variant.classes = variant.classes[!variant.classes %in% c('Amp', 'Del')] + + #Make annotation + if(!is.null(annotation)){ + annotation[,1] = gsub(pattern = '-', replacement = '.', x = annotation[,1]) + + if(nrow(annotation[duplicated(annotation$Tumor_Sample_Barcode),]) > 0){ + annotation = annotation[!duplicated(annotation$Tumor_Sample_Barcode),] + } + + rownames(annotation) = annotation[,1] + annotation = annotation[colnames(mat_origin),] + annotation = annotation[complete.cases(annotation),] + anno.df = data.frame(row.names = annotation[,1]) + anno.df = cbind(anno.df, annotation[,2:ncol(annotation)]) + colnames(anno.df) = colnames(annotation)[2:ncol(annotation)] + if(sort || sort_by_anno){ + sorted.order = colnames(mat) + anno.df.sorted = as.data.frame(anno.df[sorted.order,]) + rownames(anno.df.sorted) = sorted.order + colnames(anno.df.sorted) = colnames(anno.df) + anno.df = anno.df.sorted + } + + if(!is.null(annotationColor)){ + bot.anno = ComplexHeatmap::HeatmapAnnotation(df = anno.df, col = annotationColor) + }else{ + bot.anno = ComplexHeatmap::HeatmapAnnotation(anno.df) + } + } + + #------------------------------------Helper functions to add %, rowbar and colbar---------------------------------------------------- + ##This function adds percent rate + anno_pct = function(index) { + n = length(index) + pct = apply(mat_origin[rev(index), ], 1, function(x) sum(!grepl("^\\s*$", x))/length(x)) * 100 + pct = paste0(round(pct), "%") + grid::pushViewport(viewport(xscale = c(0, 1), yscale = c(0.5, n + 0.5))) + grid::grid.text(pct, x = 1, y = seq_along(index), default.units = "native", + just = "right", gp = grid::gpar(fontsize = 10)) + grid::upViewport() + } + + ha_pct = ComplexHeatmap::HeatmapAnnotation(pct = anno_pct, + width = grid::grobWidth(grid::textGrob("100%", gp = grid::gpar(fontsize = 10))), which = "row") + + ##Following two funcs add grids + add_oncoprint = function(type, x, y, width, height) { + grid::grid.rect(x, y, width - unit(0.5, "mm"), + height - grid::unit(1, "mm"), gp = grid::gpar(col = NA, fill = bg)) + + for (i in 1:length(variant.classes)) { + if (any(type %in% variant.classes[i])) { + grid::grid.rect(x, y, width - unit(0.5, "mm"), height - + grid::unit(1, "mm"), gp = grid::gpar(col = NA, fill = type_col[variant.classes[i]])) + } else if (any(type %in% 'Amp')) { + grid::grid.rect(x, y, width - unit(0.5, "mm"), height - + grid::unit(1, "mm"), gp = grid::gpar(col = NA, fill = bg)) + grid::grid.rect(x, y, width - unit(0.5, "mm"), height - + unit(15, 'mm'), gp = grid::gpar(col = NA, fill = type_col['Amp'])) + } else if (any(type %in% 'Del')) { + grid::grid.rect(x, y, width - unit(0.5, "mm"), height - + grid::unit(1, "mm"), gp = grid::gpar(col = NA, fill = bg)) + grid::grid.rect(x, y, width - unit(0.5, "mm"), height - grid::unit(15, "mm") + , gp = grid::gpar(col = NA, fill = type_col['Del'])) + } + } + } + + add_oncoprint2 = function(type, x, y, width, height) { + for (i in 1:length(variant.classes)) { + if (any(type %in% variant.classes[i])) { + grid::grid.rect(x, y, width - unit(0.5, "mm"), height - + grid::unit(1, "mm"), gp = grid::gpar(col = NA, fill = type_col[variant.classes[i]])) + } else if (any(type %in% 'Amp')) { + grid::grid.rect(x, y, width - unit(0.5, "mm"), height - + unit(15, 'mm'), gp = grid::gpar(col = NA, fill = type_col['Amp'])) + } else if (any(type %in% 'Del')) { + + grid::grid.rect(x, y, width - unit(0.5, "mm"), height - grid::unit(15, "mm") + , gp = grid::gpar(col = NA, fill = type_col['Del'])) + } + } + } + + #This is the main cel function which is passed to ComplexHeatmap::Hetamap() + celFun = function(j, i, x, y, width, height, fill) { + type = mat[i, j] + if(type != 'xxx'){ + typeList = unlist(strsplit(x = as.character(type), split = ';')) + if(length(typeList) > 1){ + for(i in 1:length(typeList)){ + add_oncoprint2(typeList[i], x, y, width, height) + } + }else{ + for(i in 1:length(typeList)){ + add_oncoprint(typeList[i], x, y, width, height) + } + } + + }else{ + add_oncoprint(type, x, y, width, height) + } + } + + #---------------------------------------------------------------------------------------- + #---------------------------------------------------------------------------------------- + + if(is.null(annotation)){ + ht = ComplexHeatmap::Heatmap(mat, rect_gp = grid::gpar(type = "none"), cell_fun = celFun, + row_names_gp = grid::gpar(fontsize = 10), show_column_names = showTumorSampleBarcodes, + show_heatmap_legend = FALSE, top_annotation_height = grid::unit(2, "cm")) + }else{ + ht = ComplexHeatmap::Heatmap(mat, rect_gp = grid::gpar(type = "none"), cell_fun = celFun, + row_names_gp = grid::gpar(fontsize = 10), show_column_names = showTumorSampleBarcodes, + show_heatmap_legend = FALSE, top_annotation_height = grid::unit(2, "cm"), + bottom_annotation = bot.anno) + } + + legend = grid::legendGrob(labels = type_name[names(type_col)], pch = 15, gp = grid::gpar(col = type_col), nrow = 2) + + ComplexHeatmap::draw(object = ht, newpage = FALSE, annotation_legend_side = "bottom", annotation_legend_list = list(legend)) +} + +sortByMutation<-function(numMat, maf){ + + geneOrder = getGeneSummary(x = maf)[,Hugo_Symbol] + numMat = numMat[geneOrder[geneOrder %in% rownames(numMat)],] + + numMat[numMat != 0] = 1 #replacing all non-zero integers with 1 improves sorting (& grouping) + tnumMat = t(numMat) #transposematrix + numMat = t(tnumMat[do.call(order, c(as.list(as.data.frame(tnumMat)), decreasing = TRUE)), ]) #sort + + return(numMat) + } + +sortByAnnotation <-function(numMat,maf, anno){ + + + + numMat[numMat != 0] = 1 #replacing all non-zero integers with 1 improves sorting (& grouping) + tnumMat = t(numMat) #transposematrix + rownames(anno) = gsub("-",".",anno[,1]) + anno.named = anno[colnames(numMat),2] + + names(anno.named) = anno[colnames(numMat),1] + geneOrder = getGeneSummary(x = maf)[,Hugo_Symbol] + + tndf = as.data.frame(tnumMat[,geneOrder[geneOrder %in% rownames(numMat)]]) + adf = as.data.frame(anno.named) + fulldf = cbind(adf,tndf) + + + numMat = t(tnumMat[do.call(order, c(as.list(fulldf))), ]) #sort + + + numMat = numMat[geneOrder[geneOrder %in% rownames(numMat)],] + + return(numMat) +}
--- /dev/null Thu Jan 01 00:00:00 1970 +0000 +++ b/maftools/rainfall.R Wed Nov 30 15:17:58 2016 -0500 @@ -0,0 +1,39 @@ +require(maftools); +library(argparse); + +### + +parser <- ArgumentParser(description="Create a Gene Lollipop using Maftools"); + +parser$add_argument( + "--input_maf", "-maf", + required="True", + help="Input Variants in MAF format" + ); + +parser$add_argument( + "--sample_list", "-sl", + required="True", + help="Input sample list separated by newline" + ); + +parser$add_argument( + "--output_directory", "-o", + required="True", + help="Output directory to store rainfall plots" + ) + +args <- parser$parse_args(); + +### + +all_samples <- read.table(args$sample_list, stringsAsFactors=FALSE)[,1] +laml = read.maf(maf = args$input_maf, removeSilent = T, useAll = T) +count = 1 +for (sample in all_samples) { + output_name = paste(args$output_directory, paste("samp", count, ".pdf", sep=""), sep="/") + pdf(output_name) + rainfallPlot(maf = laml, tsb = sample) + dev.off() + count <- count + 1 + }
--- /dev/null Thu Jan 01 00:00:00 1970 +0000 +++ b/maftools/rainfall.xml Wed Nov 30 15:17:58 2016 -0500 @@ -0,0 +1,74 @@ +<tool id="rainfall" name="Rainfall Plot" version="0.9.30"> + + <description> + sample snv location summary plot + </description> + + <command detect_errors="aggressive"> + + mkdir outputs; + touch sample_list.txt; + + #if $sample_input_type.sample_input_type_selector.value == "other": + echo $sample_input_type.sample > sample_list.txt; + #else: + cat $sample_input_type.sample_file > sample_list.txt; + #end if + + Rscript $__tool_directory__/rainfall.R + --input_maf $input_maf + --sample_list sample_list.txt + --output_directory \$(pwd)/outputs; + + </command> + + <inputs> + <param type="data" format="maf" name="input_maf" label="MAF File"/> + <conditional name="sample_input_type"> + <param name="sample_input_type_selector" type="select" label="Choose how to input samples"> + <option value="file" selected="True">Sample File</option> + <option value="other">Other</option> + </param> + <when value="file"> + <param name="sample_file" type="data" format="txt" label="Sample File" help="list of samples separated by newlines" /> + </when> + <when value="other"> + <param name="sample" type="text" label="Sample" help="type the sample" /> + </when> + </conditional> + </inputs> + + <outputs> + <collection name="list_output" type="list" description="Sample Rainfall Plots"> + <discover_datasets pattern="__name_and_ext__" directory="outputs"/> + </collection> + </outputs> + <citations> + <citation type="bibtex"> + @article {Albuquerque089631, + author = {Albuquerque, Marco A and Grande, Bruno M and Ritch, Elie and Jessa, Selin and Krzywinski, Martin I and Grewal, Jasleen and Shah, Sohrab and Boutros, Paul and Morin, Ryan}, + title = {Enhancing Knowledge Discovery from Cancer Genomics Data with Galaxy}, + year = {2016}, + doi = {10.1101/089631}, + publisher = {Cold Spring Harbor Labs Journals}, + URL = {http://biorxiv.org/content/early/2016/11/26/089631}, + eprint = {http://biorxiv.org/content/early/2016/11/26/089631.full.pdf}, + journal = {bioRxiv} + } + + </citation> + <citation type="bibtex"> + @misc{ + goecks2010galaxy, + title={Galaxy: a comprehensive approach for supporting accessible, reproducible, and transparent computational research in the life sciences}, + author={Goecks, Jeremy and Nekrutenko, Anton and Taylor, James and others}, + journal={Genome Biol}, + volume={11}, + number={8}, + pages={R86}, + year={2010} + } + </citation> + <citation type="doi">10.1101/052662</citation> + </citations> +</tool>
--- /dev/null Thu Jan 01 00:00:00 1970 +0000 +++ b/maftools/tcga_laml.maf Wed Nov 30 15:17:58 2016 -0500 @@ -0,0 +1,2546 @@ +#version 2.4 +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 chromosome_name start stop reference variant type gene_name transcript_name transcript_species transcript_source transcript_version strand transcript_status trv_type c_position amino_acid_change ucsc_cons domain all_domains deletion_substructures transcript_error NormalRefReads_WU NormalVarReads_WU NormalVAF_WU TumorRefReads_WU TumorVarReads_WU TumorVAF_WU RNARefReads_WU RNAVarReads_WU RNAVAF_WU +TBX15 0 genome.wustl.edu 37 1 119469161 119469161 + Missense_Mutation SNP T T A TCGA-AB-2802-03B-01W-0728-08 TCGA-AB-2802-11B-01W-0728-08 T T T A T T Verified Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq 1 dbGAP Illumina HiSeq 18257c7e-ce2a-4dce-8bc0-db47ca8201a4 07284d3f-346f-473f-864e-5be1a95560ff 1 119270684 119270684 T A SNP TBX15 NM_152380.2 human genbank 54_36p -1 validated missense c.175 p.I59F 1.000 HMMPfam_T-box,HMMSmart_TBOX,superfamily_P53_like_DNA_bnd HMMPfam_T-box,HMMSmart_TBOX,superfamily_P53_like_DNA_bnd,PatternScan_TBOX_2,PatternScan_TBOX_1 - no_errors 468 7 1.47 120 54 30.68 NA NA NA +TCHHL1 0 genome.wustl.edu 37 1 152057522 152057522 + Missense_Mutation SNP T T C TCGA-AB-2802-03B-01W-0728-08 TCGA-AB-2802-11B-01W-0728-08 T T T C T T Verified Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq 1 dbGAP Illumina HiSeq 18257c7e-ce2a-4dce-8bc0-db47ca8201a4 07284d3f-346f-473f-864e-5be1a95560ff 1 150324146 150324146 T C SNP TCHHL1 NM_001008536.1 human genbank 54_36p -1 provisional missense c.2636 p.Q879R 0.075 NULL PatternScan_S100_CABP,HMMPfam_S_100,superfamily_SSF47473 - no_errors 743 4 0.54 142 78 35.14 NA NA NA +DNMT3A 0 genome.wustl.edu 37 2 25457243 25457243 + Missense_Mutation SNP G G A TCGA-AB-2802-03B-01W-0728-08 TCGA-AB-2802-11B-01W-0728-08 G G G A G G Verified Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq 1 dbGAP Illumina HiSeq 18257c7e-ce2a-4dce-8bc0-db47ca8201a4 07284d3f-346f-473f-864e-5be1a95560ff 2 25310747 25310747 G A SNP DNMT3A NM_022552.3 human genbank 54_36p -1 reviewed missense c.2644 p.R882C 1.000 superfamily_S-adenosyl-L-methionine-dependent methyltransferases HMMPfam_PWWP,HMMSmart_SM00293,HMMPfam_DNA_methylase,superfamily_FYVE/PHD zinc finger,PatternScan_C5_MTASE_1,superfamily_S-adenosyl-L-methionine-dependent methyltransferases,superfamily_Tudor/PWWP/MBT - no_errors 152 0 0.00 42 17 28.33 NA NA NA +IDH1 0 genome.wustl.edu 37 2 209113112 209113112 + Missense_Mutation SNP C C T rs121913500 TCGA-AB-2802-03B-01W-0728-08 TCGA-AB-2802-11B-01W-0728-08 C C C T C C Verified Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq 1 dbGAP Illumina HiSeq 18257c7e-ce2a-4dce-8bc0-db47ca8201a4 07284d3f-346f-473f-864e-5be1a95560ff 2 208821357 208821357 C T SNP IDH1 NM_005896.2 human genbank 54_36p -1 reviewed missense c.395 p.R132H 1.000 HMMPfam_Iso_dh,superfamily_Isocitrate/Isopropylmalate dehydrogenase-like HMMPfam_Iso_dh,PatternScan_IDH_IMDH,superfamily_Isocitrate/Isopropylmalate dehydrogenase-like - no_errors 71 0 0.00 55 39 41.05 NA NA NA +GRM7 0 genome.wustl.edu 37 3 7503316 7503316 + Silent SNP T T A TCGA-AB-2802-03B-01W-0728-08 TCGA-AB-2802-11B-01W-0728-08 T T T A T T Verified Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq 1 dbGAP Illumina HiSeq 18257c7e-ce2a-4dce-8bc0-db47ca8201a4 07284d3f-346f-473f-864e-5be1a95560ff 3 7478316 7478316 T A SNP GRM7 NM_181874.2 human genbank 54_36p +1 reviewed silent c.1422 p.P474 0.995 HMMPfam_ANF_receptor,superfamily_SSF53822 HMMPfam_ANF_receptor,HMMPfam_NCD3G,HMMPfam_7tm_3,PatternScan_G_PROTEIN_RECEP_F3_1,PatternScan_G_PROTEIN_RECEP_F3_2,PatternScan_G_PROTEIN_RECEP_F3_3,superfamily_SSF53822 - no_errors 672 10 1.46 155 52 24.88 NA NA NA +ANKRD30A 0 genome.wustl.edu 37 10 37455582 37455582 + Missense_Mutation SNP C C T TCGA-AB-2802-03B-01W-0728-08 TCGA-AB-2802-11B-01W-0728-08 C C C T C C Verified Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq 1 dbGAP Illumina HiSeq 18257c7e-ce2a-4dce-8bc0-db47ca8201a4 07284d3f-346f-473f-864e-5be1a95560ff 10 37495588 37495588 C T SNP ANKRD30A NM_052997.2 human genbank 54_36p +1 validated missense c.1946 p.A649V 0.010 NULL PatternScan_ASP_PROTEASE,HMMPfam_Ank,HMMSmart_SM00248,superfamily_Ankyrin repeat - no_errors 69 0 0.00 25 19 42.22 NA NA NA +KRT74 0 genome.wustl.edu 37 12 52964548 52964548 + Silent SNP G G A TCGA-AB-2802-03B-01W-0728-08 TCGA-AB-2802-11B-01W-0728-08 G G G A G G Verified Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq 1 dbGAP Illumina HiSeq 18257c7e-ce2a-4dce-8bc0-db47ca8201a4 07284d3f-346f-473f-864e-5be1a95560ff 12 51250815 51250815 G A SNP KRT74 NM_175053.3 human genbank 54_36p -1 validated silent c.913 p.L305 0.958 HMMPfam_Filament HMMPfam_Filament,PatternScan_IF - no_errors 249 4 1.58 60 23 27.71 NA NA NA +PTPN11 0 genome.wustl.edu 37 12 112888165 112888165 + Missense_Mutation SNP G G A TCGA-AB-2802-03B-01W-0728-08 TCGA-AB-2802-11B-01W-0728-08 G G G A G G Verified Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq 1 dbGAP Illumina HiSeq 18257c7e-ce2a-4dce-8bc0-db47ca8201a4 07284d3f-346f-473f-864e-5be1a95560ff 12 111372548 111372548 G A SNP PTPN11 NM_002834.3 human genbank 54_36p +1 reviewed missense c.181 p.D61N 1.000 HMMPfam_SH2,HMMSmart_SM00252,superfamily_SH2 domain HMMPfam_Y_phosphatase,HMMSmart_SM00194,HMMPfam_SH2,HMMSmart_SM00252,HMMSmart_SM00404,PatternScan_TYR_PHOSPHATASE_1,superfamily_(Phosphotyrosine protein) phosphatases II,superfamily_SH2 domain - no_errors 423 0 0.00 51 23 31.08 NA NA NA +EP400 0 genome.wustl.edu 37 12 132466885 132466885 + Silent SNP G G A TCGA-AB-2802-03B-01W-0728-08 TCGA-AB-2802-11B-01W-0728-08 G G G A G G Verified Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq 1 dbGAP Illumina HiSeq 18257c7e-ce2a-4dce-8bc0-db47ca8201a4 07284d3f-346f-473f-864e-5be1a95560ff 12 131032838 131032838 G A SNP EP400 NM_015409.3 human genbank 54_36p +1 validated silent c.1788 p.Q596 0.985 NULL HMMPfam_SNF2_N,HMMPfam_Helicase_C,HMMSmart_HELICc,HMMPfam_HSA,superfamily_Homeodomain_like,HMMSmart_HSA,HMMSmart_DEXDc,superfamily_SSF52540 - no_errors 209 1 0.48 44 23 34.33 NA NA NA +LOC728211 0 genome.wustl.edu 37 18 12076175 12076175 + RNA SNP A A G TCGA-AB-2802-03B-01W-0728-08 TCGA-AB-2802-11B-01W-0728-08 A A A G A A Verified Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq 1 dbGAP Illumina HiSeq 18257c7e-ce2a-4dce-8bc0-db47ca8201a4 07284d3f-346f-473f-864e-5be1a95560ff 18 12066175 12066175 A G SNP LOC728211 XR_015403.2 human genbank 54_36p -1 model rna NULL NULL 0.973 - - - pseudogene 127 2 1.55 18 7 26.92 NA NA NA +C20orf24 0 genome.wustl.edu 37 20 35240439 35240439 + Missense_Mutation SNP C C T TCGA-AB-2802-03B-01W-0728-08 TCGA-AB-2802-11B-01W-0728-08 C C C T C C Verified Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq 1 dbGAP Illumina HiSeq 18257c7e-ce2a-4dce-8bc0-db47ca8201a4 07284d3f-346f-473f-864e-5be1a95560ff 20 34673853 34673853 C T SNP C20orf24 NM_199483.2 human genbank 54_36p +1 validated missense c.245 p.P82L 0.994 HMMPfam_Rab5ip HMMPfam_Rab5ip - no_errors 375 3 0.79 32 17 34.00 NA NA NA +NPM1 0 genome.wustl.edu 37 5 170834736 170834737 + Frame_Shift_Ins INS - - GAGGAGG TCGA-AB-2802-03B-01W-0728-08 TCGA-AB-2802-11B-01W-0728-08 - - - GAGGAGG - - Verified Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq 1 dbGAP Illumina HiSeq 18257c7e-ce2a-4dce-8bc0-db47ca8201a4 07284d3f-346f-473f-864e-5be1a95560ff 5 170767341 170767342 - GAGGAGG INS NPM1 NM_002520.1 human genbank 54_36p +1 validated frame_shift_ins c.804_805 p.I268fs 0.998:1.000 NULL HMMPfam_Nucleoplasmin,superfamily_Nucleoplasmin-like core domain - no_errors NA NA NA NA NA NA NA NA NA +NPM1 0 genome.wustl.edu 37 5 170834737 170834738 + Frame_Shift_Ins INS - - T TCGA-AB-2802-03B-01W-0728-08 TCGA-AB-2802-11B-01W-0728-08 - - - T - - Verified Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq 1 dbGAP Illumina HiSeq 18257c7e-ce2a-4dce-8bc0-db47ca8201a4 07284d3f-346f-473f-864e-5be1a95560ff 5 170767342 170767343 - T INS NPM1 NM_002520.1 human genbank 54_36p +1 validated frame_shift_ins c.805_806 p.N270fs 1.000:1.000 NULL HMMPfam_Nucleoplasmin,superfamily_Nucleoplasmin-like core domain - no_errors 163 0 0.00 49 0 0.00 NA NA NA +CACNA1S 0 genome.wustl.edu 37 1 201054627 201054627 + Missense_Mutation SNP G G A TCGA-AB-2803-03B-01W-0728-08 TCGA-AB-2803-11B-01W-0728-08 G G G A G G Verified Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq 1 dbGAP Illumina HiSeq b32f55af-f22a-4a37-a9f6-753d1b1eb72d 7cf1ee32-4453-4377-af5e-7d9ac9f8d43b 1 199321250 199321250 G A SNP CACNA1S NM_000069.2 human genbank 54_36p -1 reviewed missense c.1087 p.L363F 1.000 NULL HMMPfam_Ion_trans,HMMPfam_Ca_chan_IQ,superfamily_SSF81324 - no_errors 90 0 0.00 107 61 36.09 NA NA NA +LMOD1 0 genome.wustl.edu 37 1 201915305 201915305 + Missense_Mutation SNP G G A TCGA-AB-2803-03B-01W-0728-08 TCGA-AB-2803-11B-01W-0728-08 G G G A G G Verified Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq 1 dbGAP Illumina HiSeq b32f55af-f22a-4a37-a9f6-753d1b1eb72d 7cf1ee32-4453-4377-af5e-7d9ac9f8d43b 1 200181928 200181928 G A SNP LMOD1 ENST00000367288 human ensembl 54_36p -1 known missense c.164 p.T55M 1.000 HMMPfam_Tropomodulin HMMPfam_WH2,HMMPfam_Tropomodulin,superfamily_SSF52047 - no_errors 94 0 0.00 99 78 43.58 NA NA NA +RPL32 0 genome.wustl.edu 37 3 12880994 12880994 + Missense_Mutation SNP C C A TCGA-AB-2803-03B-01W-0728-08 TCGA-AB-2803-11B-01W-0728-08 C C C A C C Verified Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq 1 dbGAP Illumina HiSeq b32f55af-f22a-4a37-a9f6-753d1b1eb72d 7cf1ee32-4453-4377-af5e-7d9ac9f8d43b 3 12855994 12855994 C A SNP RPL32 NM_000994.3 human genbank 54_36p -1 reviewed missense c.132 p.R44S 1.000 HMMPfam_Ribosomal_L32e,superfamily_Ribosomal protein L32e HMMPfam_Ribosomal_L32e,superfamily_Ribosomal protein L32e,PatternScan_RIBOSOMAL_L32E - no_errors 84 0 0.00 64 56 46.28 1244 1394 52.68 +CC2D2A 0 genome.wustl.edu 37 4 15569352 15569352 + Missense_Mutation SNP C C T TCGA-AB-2803-03B-01W-0728-08 TCGA-AB-2803-11B-01W-0728-08 C C C T C C Verified Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq 1 dbGAP Illumina HiSeq b32f55af-f22a-4a37-a9f6-753d1b1eb72d 7cf1ee32-4453-4377-af5e-7d9ac9f8d43b 4 15178450 15178450 C T SNP CC2D2A NM_001080522.2 human genbank 54_36p +1 validated missense c.3341 p.T1114M 0.971 HMMSmart_C2 HMMSmart_C2 - no_errors 123 0 0.00 102 68 39.53 NA NA NA +LNX1 0 genome.wustl.edu 37 4 54374249 54374249 + Missense_Mutation SNP C C T TCGA-AB-2803-03B-01W-0728-08 TCGA-AB-2803-11B-01W-0728-08 C C C T C C Verified Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq 1 dbGAP Illumina HiSeq b32f55af-f22a-4a37-a9f6-753d1b1eb72d 7cf1ee32-4453-4377-af5e-7d9ac9f8d43b 4 54069006 54069006 C T SNP LNX1 NM_032622.1 human genbank 54_36p -1 reviewed missense c.238 p.E80K 0.988 NULL HMMPfam_PDZ,HMMSmart_PDZ,superfamily_PDZ - no_errors 89 2 2.17 97 95 49.22 NA NA NA +FNIP2 0 genome.wustl.edu 37 4 159754760 159754760 + Missense_Mutation SNP G G A TCGA-AB-2803-03B-01W-0728-08 TCGA-AB-2803-11B-01W-0728-08 G G G A G G Verified Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq 1 dbGAP Illumina HiSeq b32f55af-f22a-4a37-a9f6-753d1b1eb72d 7cf1ee32-4453-4377-af5e-7d9ac9f8d43b 4 159974210 159974210 G A SNP FNIP2 NM_020840.1 human genbank 54_36p +1 validated missense c.635 p.C212Y 0.998 NULL NULL - no_errors 186 0 0.00 145 87 36.86 2 1 33.33 +POU5F1 0 genome.wustl.edu 37 6 31133004 31133004 + Missense_Mutation SNP G G T TCGA-AB-2803-03B-01W-0728-08 TCGA-AB-2803-11B-01W-0728-08 G G G T G G Verified Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq 1 dbGAP Illumina HiSeq b32f55af-f22a-4a37-a9f6-753d1b1eb72d 7cf1ee32-4453-4377-af5e-7d9ac9f8d43b 6 31240983 31240983 G T SNP POU5F1 NM_002701.4 human genbank 54_36p -1 validated missense c.717 p.N239K 0.995 HMMPfam_Homeobox,HMMSmart_SM00389,superfamily_Homeodomain-like HMMPfam_Pou,HMMSmart_SM00352,PatternScan_POU_1,PatternScan_POU_2,HMMPfam_Homeobox,HMMSmart_SM00389,superfamily_Homeodomain-like,superfamily_lambda repressor-like DNA-binding domains,PatternScan_HOMEOBOX_1 - no_errors 191 0 0.00 136 106 43.44 1 3 75.00 +POM121C 0 genome.wustl.edu 37 7 75051473 75051473 + Missense_Mutation SNP C C G TCGA-AB-2803-03B-01W-0728-08 TCGA-AB-2803-11B-01W-0728-08 C C C G C C Verified Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq 1 dbGAP Illumina HiSeq b32f55af-f22a-4a37-a9f6-753d1b1eb72d 7cf1ee32-4453-4377-af5e-7d9ac9f8d43b 7 74889409 74889409 C G SNP POM121C NM_001099415.1 human genbank 54_36p -1 validated missense c.2062 p.G688R 0.135 NULL NULL - no_errors 7 0 0.00 9 1 10.00 13 0 0.00 +TAS2R38 0 genome.wustl.edu 37 7 141672554 141672554 + Silent SNP C C G TCGA-AB-2803-03B-01W-0728-08 TCGA-AB-2803-11B-01W-0728-08 C C C G C C Verified Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq 1 dbGAP Illumina HiSeq b32f55af-f22a-4a37-a9f6-753d1b1eb72d 7cf1ee32-4453-4377-af5e-7d9ac9f8d43b 7 141319023 141319023 C G SNP TAS2R38 NM_176817.3 human genbank 54_36p -1 validated silent c.936 p.L312 0.001 HMMPfam_TAS2R,superfamily_SSF81321 HMMPfam_TAS2R,superfamily_SSF81321 - no_errors 74 0 0.00 81 61 42.07 NA NA NA +C7orf29 0 genome.wustl.edu 37 7 150028046 150028046 + Silent SNP C C T TCGA-AB-2803-03B-01W-0728-08 TCGA-AB-2803-11B-01W-0728-08 C C C T C C Verified Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq 1 dbGAP Illumina HiSeq b32f55af-f22a-4a37-a9f6-753d1b1eb72d 7cf1ee32-4453-4377-af5e-7d9ac9f8d43b 7 149658979 149658979 C T SNP C7orf29 NM_138434.2 human genbank 54_36p +1 validated silent c.553 p.L185 0.015 NULL NULL - no_errors 23 0 0.00 44 18 29.03 1 0 0.00 +LOC100133234 0 genome.wustl.edu 37 8 56366649 56366649 + RNA SNP A A G TCGA-AB-2803-03B-01W-0728-08 TCGA-AB-2803-11B-01W-0728-08 A A A G A A Verified Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq 1 dbGAP Illumina HiSeq b32f55af-f22a-4a37-a9f6-753d1b1eb72d 7cf1ee32-4453-4377-af5e-7d9ac9f8d43b 8 56529203 56529203 A G SNP LOC100133234 XR_038021.1 human genbank 54_36p -1 model rna NULL NULL 0.803 - - - pseudogene 25 0 0.00 28 12 30.00 NA NA NA +TRIM48 0 genome.wustl.edu 37 11 55033149 55033149 + Missense_Mutation SNP C C A TCGA-AB-2803-03B-01W-0728-08 TCGA-AB-2803-11B-01W-0728-08 C C C A C C Verified Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq 1 dbGAP Illumina HiSeq b32f55af-f22a-4a37-a9f6-753d1b1eb72d 7cf1ee32-4453-4377-af5e-7d9ac9f8d43b 11 54789725 54789725 C A SNP TRIM48 NM_024114.3 human genbank 54_36p +1 validated missense c.485 p.T162N 0.000 NULL HMMPfam_zf-B_box,HMMSmart_BBOX,HMMSmart_RING,PatternScan_ZF_RING_1,HMMPfam_zf-C3HC4,superfamily_SSF57850 - no_errors 24 0 0.00 44 26 37.14 NA NA NA +TUBA1A 0 genome.wustl.edu 37 12 49578980 49578980 + Missense_Mutation SNP C C T TCGA-AB-2803-03B-01W-0728-08 TCGA-AB-2803-11B-01W-0728-08 C C C T C C Verified Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq 1 dbGAP Illumina HiSeq b32f55af-f22a-4a37-a9f6-753d1b1eb72d 7cf1ee32-4453-4377-af5e-7d9ac9f8d43b 12 47865247 47865247 C T SNP TUBA1A NM_006009.2 human genbank 54_36p -1 reviewed missense c.1169 p.R390H 1.000 superfamily_Tubulin C-terminal domain-like,HMMPfam_Tubulin_C HMMPfam_Tubulin,superfamily_Tubulin C-terminal domain-like,PatternScan_TUBULIN,HMMPfam_Tubulin_C,superfamily_Tubulin nucleotide-binding domain-like - no_errors 98 0 0.00 148 43 22.40 167 34 16.92 +RYR3 0 genome.wustl.edu 37 15 34048515 34048515 + Missense_Mutation SNP G G A TCGA-AB-2803-03B-01W-0728-08 TCGA-AB-2803-11B-01W-0728-08 G G G A G G Verified Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq 1 dbGAP Illumina HiSeq b32f55af-f22a-4a37-a9f6-753d1b1eb72d 7cf1ee32-4453-4377-af5e-7d9ac9f8d43b 15 31835807 31835807 G A SNP RYR3 NM_001036.3 human genbank 54_36p +1 validated missense c.8524 p.V2842I 1.000 NULL HMMPfam_RYDR_ITPR,HMMPfam_RyR,HMMPfam_MIR,superfamily_MIR domain (Pfam 02815),HMMPfam_SPRY,HMMPfam_Ion_trans,HMMPfam_RR_TM4-6,HMMPfam_RIH_assoc,HMMPfam_Ins145_P3_rec,HMMSmart_SM00472,HMMPfam_efhand,HMMSmart_SM00449,superfamily_EF-hand - no_errors 122 0 0.00 107 70 39.55 NA NA NA +FSD2 0 genome.wustl.edu 37 15 83455740 83455740 + Missense_Mutation SNP C C T TCGA-AB-2803-03B-01W-0728-08 TCGA-AB-2803-11B-01W-0728-08 C C C T C C Verified Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq 1 dbGAP Illumina HiSeq b32f55af-f22a-4a37-a9f6-753d1b1eb72d 7cf1ee32-4453-4377-af5e-7d9ac9f8d43b 15 81252794 81252794 C T SNP FSD2 NM_001007122.2 human genbank 54_36p -1 provisional missense c.403 p.G135R 0.000 NULL HMMPfam_SPRY,HMMPfam_fn3,HMMSmart_FN3,superfamily_FN_III-like - no_errors 75 0 0.00 68 70 50.72 NA NA NA +PEX13 0 genome.wustl.edu 37 2 61258937 61258937 + Frame_Shift_Del DEL G G - TCGA-AB-2803-03B-01W-0728-08 TCGA-AB-2803-11B-01W-0728-08 G G G - G G Verified Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq 1 dbGAP Illumina HiSeq b32f55af-f22a-4a37-a9f6-753d1b1eb72d 7cf1ee32-4453-4377-af5e-7d9ac9f8d43b 2 61112441 61112441 G - DEL PEX13 NM_002618.3 human genbank 54_36p +1 reviewed frame_shift_del c.476 p.A160fs 1.000 HMMPfam_Peroxin-13_N HMMPfam_SH3_1,HMMSmart_SM00326,superfamily_SH3-domain,HMMPfam_Peroxin-13_N - no_errors 158 0 0.00 113 93 43.46 3 0 0.00 +LOC643342 0 genome.wustl.edu 37 9 98055569 98055570 + RNA DEL TG TG - TCGA-AB-2803-03B-01W-0728-08 TCGA-AB-2803-11B-01W-0728-08 TG TG TG - TG TG Verified Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq 1 dbGAP Illumina HiSeq b32f55af-f22a-4a37-a9f6-753d1b1eb72d 7cf1ee32-4453-4377-af5e-7d9ac9f8d43b 9 97095390 97095391 TG - DEL LOC643342 XR_016301.2 human genbank 54_36p +1 model rna NULL NULL 0.996:0.998 - - - pseudogene 0 0 0.00 0 15 14.29 0 0 0.00 +SCML2 0 genome.wustl.edu 37 X 18264755 18264755 + Silent SNP G G A TCGA-AB-2804-03B-01W-0728-08 TCGA-AB-2804-11B-01W-0728-08 G G G A G G Verified Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq 1 dbGAP Illumina HiSeq 3b3597ef-18f7-48a0-a39a-3a9e09f0a1d7 cc098a35-5f3d-460b-9d1c-f37f513dfc21 X 18174676 18174676 G A SNP SCML2 NM_006089.2 human genbank 54_36p -1 validated silent c.1764 p.D588 0.001 NULL HMMPfam_SAM_1,HMMSmart_SM00454,HMMPfam_MBT,HMMSmart_SM00561,superfamily_SAM/Pointed domain,superfamily_Tudor/PWWP/MBT - no_errors 44 0 0.00 43 95 68.35 NA NA NA +PHF6 0 genome.wustl.edu 37 X 133527979 133527979 + Nonsense_Mutation SNP G G T TCGA-AB-2804-03B-01W-0728-08 TCGA-AB-2804-11B-01W-0728-08 G G G T G G Verified Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq 1 dbGAP Illumina HiSeq 3b3597ef-18f7-48a0-a39a-3a9e09f0a1d7 cc098a35-5f3d-460b-9d1c-f37f513dfc21 X 133355645 133355645 G T SNP PHF6 NM_001015877.1 human genbank 54_36p +1 reviewed nonsense c.415 p.E139* 1.000 NULL HMMSmart_SM00249,superfamily_FYVE/PHD zinc finger - no_errors 25 0 0.00 15 74 83.15 NA NA NA +LIMS2 0 genome.wustl.edu 37 2 128412067 128412067 + Missense_Mutation SNP G G C TCGA-AB-2804-03B-01W-0728-08 TCGA-AB-2804-11B-01W-0728-08 G G G C G G Verified Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq 1 dbGAP Illumina HiSeq 3b3597ef-18f7-48a0-a39a-3a9e09f0a1d7 cc098a35-5f3d-460b-9d1c-f37f513dfc21 2 128128537 128128537 G C SNP LIMS2 NM_017980.1 human genbank 54_36p -1 provisional missense c.362 p.P121R 0.999 HMMPfam_LIM,HMMSmart_LIM,PatternScan_LIM_DOMAIN_1,superfamily_SSF57716 HMMPfam_LIM,HMMSmart_LIM,PatternScan_LIM_DOMAIN_1,superfamily_SSF57716 - no_errors 18 0 0.00 35 24 40.68 NA NA NA +GNRHR 0 genome.wustl.edu 37 4 68619639 68619639 + Missense_Mutation SNP G G A TCGA-AB-2804-03B-01W-0728-08 TCGA-AB-2804-11B-01W-0728-08 G G G A G G Verified Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq 1 dbGAP Illumina HiSeq 3b3597ef-18f7-48a0-a39a-3a9e09f0a1d7 cc098a35-5f3d-460b-9d1c-f37f513dfc21 4 68302234 68302234 G A SNP GNRHR NM_000406.2 human genbank 54_36p -1 reviewed missense c.415 p.R139C 1.000 HMMPfam_7tm_1,PatternScan_G_PROTEIN_RECEP_F1_1,superfamily_Family A G protein-coupled receptor-like HMMPfam_7tm_1,PatternScan_G_PROTEIN_RECEP_F1_1,superfamily_Family A G protein-coupled receptor-like - no_errors 83 0 0.00 146 116 43.94 NA NA NA +ATP2A2 0 genome.wustl.edu 37 12 110765452 110765452 + Missense_Mutation SNP C C T TCGA-AB-2804-03B-01W-0728-08 TCGA-AB-2804-11B-01W-0728-08 C C C T C C Verified Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq 1 dbGAP Illumina HiSeq 3b3597ef-18f7-48a0-a39a-3a9e09f0a1d7 cc098a35-5f3d-460b-9d1c-f37f513dfc21 12 109249835 109249835 C T SNP ATP2A2 NM_170665.1 human genbank 54_36p +1 reviewed missense c.725 p.T242I 1.000 HMMPfam_E1-E2_ATPase,superfamily_Calcium ATPase transmembrane domain M HMMPfam_Cation_ATPase_N,HMMPfam_Hydrolase,HMMPfam_Cation_ATPase_C,HMMPfam_E1-E2_ATPase,PatternScan_ATPASE_E1_E2,superfamily_HAD-like,superfamily_Calcium ATPase transduction domain A,superfamily_Metal cation-transporting ATPase ATP-binding domain N,superfamily_Calcium ATPase transmembrane domain M - no_errors 82 1 1.20 184 103 35.27 NA NA NA +LOC728770 0 genome.wustl.edu 37 15 34815273 34815273 + Missense_Mutation SNP G G C TCGA-AB-2804-03B-01W-0728-08 TCGA-AB-2804-11B-01W-0728-08 G G G C G G Verified Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq 1 dbGAP Illumina HiSeq 3b3597ef-18f7-48a0-a39a-3a9e09f0a1d7 cc098a35-5f3d-460b-9d1c-f37f513dfc21 15 32602565 32602565 G C SNP LOC728770 XM_001718857.1 human genbank 54_36p +1 model missense c.752 p.C251S 0.002 NULL HMMPfam_GED,HMMSmart_SM00302 - pseudogene 12 1 7.69 4 3 37.50 NA NA NA +OTOA 0 genome.wustl.edu 37 16 21742187 21742187 + Missense_Mutation SNP C C T TCGA-AB-2804-03B-01W-0728-08 TCGA-AB-2804-11B-01W-0728-08 C C C T C C Verified Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq 1 dbGAP Illumina HiSeq 3b3597ef-18f7-48a0-a39a-3a9e09f0a1d7 cc098a35-5f3d-460b-9d1c-f37f513dfc21 16 21649688 21649688 C T SNP OTOA NM_144672.3 human genbank 54_36p +1 provisional missense c.2237 p.T746M 0.021 NULL NULL - no_errors 60 0 0.00 174 111 38.95 NA NA NA +C19orf55 0 genome.wustl.edu 37 19 36249111 36249111 + Missense_Mutation SNP C C T TCGA-AB-2804-03B-01W-0728-08 TCGA-AB-2804-11B-01W-0728-08 C C C T C C Verified Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq 1 dbGAP Illumina HiSeq 3b3597ef-18f7-48a0-a39a-3a9e09f0a1d7 cc098a35-5f3d-460b-9d1c-f37f513dfc21 19 40940951 40940951 C T SNP C19orf55 ENST00000396911 human ensembl 54_36p +1 known missense c.73 p.R25C 0.000 NULL NULL - no_errors 19 0 0.00 50 19 27.54 NA NA NA +LILRB2 0 genome.wustl.edu 37 19 54782837 54782837 + Missense_Mutation SNP C C T TCGA-AB-2804-03B-01W-0728-08 TCGA-AB-2804-11B-01W-0728-08 C C C T C C Verified Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq 1 dbGAP Illumina HiSeq 3b3597ef-18f7-48a0-a39a-3a9e09f0a1d7 cc098a35-5f3d-460b-9d1c-f37f513dfc21 19 59474649 59474649 C T SNP LILRB2 NM_005874.2 human genbank 54_36p -1 reviewed missense c.785 p.R262H 0.000 HMMSmart_SM00408,HMMSmart_SM00409,HMMPfam_ig,superfamily_Immunoglobulin HMMSmart_SM00408,HMMSmart_SM00409,HMMPfam_ig,superfamily_Immunoglobulin - no_errors 24 0 0.00 35 18 33.96 NA NA NA +ABTB1 0 genome.wustl.edu 37 3 127396114 127396115 + Frame_Shift_Ins INS - - C TCGA-AB-2804-03B-01W-0728-08 TCGA-AB-2804-11B-01W-0728-08 - - - C - - Verified Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq 1 dbGAP Illumina HiSeq 3b3597ef-18f7-48a0-a39a-3a9e09f0a1d7 cc098a35-5f3d-460b-9d1c-f37f513dfc21 3 128878804 128878805 - C INS ABTB1 NM_172027.2 human genbank 54_36p +1 reviewed frame_shift_ins c.747_748 p.E251fs 1.000:1.000 NULL HMMSmart_SM00225,HMMPfam_Ank,HMMSmart_SM00248,superfamily_Ankyrin repeat,superfamily_POZ domain,HMMPfam_BTB - no_errors 12 0 0.00 20 4 16.67 NA NA NA +GNB1 0 genome.wustl.edu 37 1 1747228 1747228 + Missense_Mutation SNP T T G TCGA-AB-2805-03B-01W-0728-08 TCGA-AB-2805-11B-01W-0728-08 T T T G T T Verified Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq 1 dbGAP Illumina HiSeq 722c3b06-dbea-4adc-8a7e-49f430211f6e 48eef5ef-c9dc-4c63-b2cd-1cec1dac4098 1 1737088 1737088 T G SNP GNB1 NM_002074.2 human genbank 54_36p -1 reviewed missense c.170 p.K57T 1.000 HMMSmart_SM00320,superfamily_WD40 repeat-like,HMMPfam_WD40 HMMSmart_SM00320,superfamily_WD40 repeat-like,PatternScan_WD_REPEATS_1,HMMPfam_WD40 - no_errors 318 0 0.00 130 134 49.81 227 192 45.71 +BLZF1 0 genome.wustl.edu 37 1 169345861 169345861 + Missense_Mutation SNP G G A TCGA-AB-2805-03B-01W-0728-08 TCGA-AB-2805-11B-01W-0728-08 G G G A G G Verified Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq 1 dbGAP Illumina HiSeq 722c3b06-dbea-4adc-8a7e-49f430211f6e 48eef5ef-c9dc-4c63-b2cd-1cec1dac4098 1 167612485 167612485 G A SNP BLZF1 NM_003666.2 human genbank 54_36p +1 validated missense c.112 p.G38R 0.951 NULL HMMPfam_DASH_Hsk3 - no_errors 119 0 0.00 102 118 52.21 10 12 54.55 +ADCY3 0 genome.wustl.edu 37 2 25050814 25050814 + Missense_Mutation SNP G G A TCGA-AB-2805-03B-01W-0728-08 TCGA-AB-2805-11B-01W-0728-08 G G G A G G Verified Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq 1 dbGAP Illumina HiSeq 722c3b06-dbea-4adc-8a7e-49f430211f6e 48eef5ef-c9dc-4c63-b2cd-1cec1dac4098 2 24904318 24904318 G A SNP ADCY3 NM_004036.3 human genbank 54_36p -1 reviewed missense c.2389 p.P797S 0.956 NULL HMMPfam_Guanylate_cyc,HMMSmart_CYCc,superfamily_A/G_cyclase,PatternScan_GUANYLATE_CYCLASE_1 - no_errors 153 3 1.91 97 88 47.57 19 14 42.42 +ALMS1 0 genome.wustl.edu 37 2 73746927 73746927 + Missense_Mutation SNP C C T TCGA-AB-2805-03B-01W-0728-08 TCGA-AB-2805-11B-01W-0728-08 C C C T C C Verified Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq 1 dbGAP Illumina HiSeq 722c3b06-dbea-4adc-8a7e-49f430211f6e 48eef5ef-c9dc-4c63-b2cd-1cec1dac4098 2 73600435 73600435 C T SNP ALMS1 NM_015120.4 human genbank 54_36p +1 reviewed missense c.9562 p.L3188F 0.000 NULL NULL - no_errors 137 0 0.00 108 77 40.96 10 14 58.33 +TTN 0 genome.wustl.edu 37 2 179442196 179442196 + Silent SNP G G A TCGA-AB-2805-03B-01W-0728-08 TCGA-AB-2805-11B-01W-0728-08 G G G A G G Verified Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq 1 dbGAP Illumina HiSeq 722c3b06-dbea-4adc-8a7e-49f430211f6e 48eef5ef-c9dc-4c63-b2cd-1cec1dac4098 2 179150442 179150442 G A SNP TTN ENST00000375038 human ensembl 54_36p -1 known silent c.56809 p.L18937 0.869 HMMSmart_SM00409,superfamily_Concanavalin A-like lectins/glucanases,superfamily_WD40 repeat-like,HMMPfam_I-set,superfamily_Immunoglobulin,superfamily_vWA-like,superfamily_Positive stranded ssRNA viruses HMMSmart_SM00219,HMMSmart_SM00220,PatternScan_IG_MHC,HMMSmart_SM00406,HMMSmart_SM00408,HMMSmart_SM00409,HMMPfam_fn3,HMMSmart_SM00060,HMMPfam_PPAK,PatternScan_PROTEIN_KINASE_TYR,superfamily_Fibronectin type III,superfamily_Concanavalin A-like lectins/glucanases,superfamily_Protein kinase-like (PK-like),superfamily_WD40 repeat-like,HMMPfam_I-set,HMMPfam_ig,HMMPfam_Titin_Z,HMMPfam_Pkinase,PatternScan_FGGY_KINASES_1,PatternScan_PEROXIDASE_1,superfamily_Immunoglobulin,superfamily_vWA-like,superfamily_Positive stranded ssRNA viruses - no_errors 158 0 0.00 95 52 35.37 1 0 0.00 +RELN 0 genome.wustl.edu 37 7 103151448 103151448 + Silent SNP A A G TCGA-AB-2805-03B-01W-0728-08 TCGA-AB-2805-11B-01W-0728-08 A A A G A A Verified Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq 1 dbGAP Illumina HiSeq 722c3b06-dbea-4adc-8a7e-49f430211f6e 48eef5ef-c9dc-4c63-b2cd-1cec1dac4098 7 102938684 102938684 A G SNP RELN NM_005045.3 human genbank 54_36p -1 reviewed silent c.8124 p.N2708 1.000 superfamily_Sialidase HMMPfam_Reeler,HMMSmart_EGF,superfamily_Sialidase,PatternScan_EGF_1,PatternScan_EGF_2,HMMPfam_EGF_2,superfamily_SSF57196 - no_errors 117 0 0.00 110 65 36.31 NA NA NA +DNAI1 0 genome.wustl.edu 37 9 34506776 34506776 + Silent SNP C C T TCGA-AB-2805-03B-01W-0728-08 TCGA-AB-2805-11B-01W-0728-08 C C C T C C Verified Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq 1 dbGAP Illumina HiSeq 722c3b06-dbea-4adc-8a7e-49f430211f6e 48eef5ef-c9dc-4c63-b2cd-1cec1dac4098 9 34496776 34496776 C T SNP DNAI1 NM_012144.2 human genbank 54_36p +1 reviewed silent c.1215 p.D405 0.604 HMMSmart_WD40,superfamily_WD40_like HMMSmart_WD40,superfamily_WD40_like,PatternScan_WD_REPEATS_1,HMMPfam_WD40 - no_errors 149 0 0.00 92 73 43.71 NA NA NA +TNC 0 genome.wustl.edu 37 9 117798422 117798422 + Missense_Mutation SNP T T C TCGA-AB-2805-03B-01W-0728-08 TCGA-AB-2805-11B-01W-0728-08 T T T C T T Verified Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq 1 dbGAP Illumina HiSeq 722c3b06-dbea-4adc-8a7e-49f430211f6e 48eef5ef-c9dc-4c63-b2cd-1cec1dac4098 9 116838243 116838243 T C SNP TNC NM_002160.2 human genbank 54_36p -1 validated missense c.5611 p.K1871E 0.977 HMMPfam_fn3,HMMSmart_FN3,superfamily_FN_III-like HMMPfam_Fibrinogen_C,HMMSmart_FBG,superfamily_Fibrinogen_a/b/g_C,HMMPfam_fn3,HMMSmart_FN3,HMMPfam_EGF,HMMSmart_EGF,superfamily_FN_III-like,PatternScan_EGF_1,PatternScan_EGF_2,HMMPfam_EGF_2 - no_errors 475 7 1.45 293 262 47.12 NA NA NA +CDON 0 genome.wustl.edu 37 11 125871701 125871701 + Missense_Mutation SNP C C T TCGA-AB-2805-03B-01W-0728-08 TCGA-AB-2805-11B-01W-0728-08 C C C T C C Verified Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq 1 dbGAP Illumina HiSeq 722c3b06-dbea-4adc-8a7e-49f430211f6e 48eef5ef-c9dc-4c63-b2cd-1cec1dac4098 11 125376911 125376911 C T SNP CDON NM_016952.4 human genbank 54_36p -1 validated missense c.2071 p.V691M 0.118 NULL HMMSmart_SM00408,HMMSmart_SM00409,HMMPfam_fn3,HMMSmart_SM00060,superfamily_Fibronectin type III,HMMPfam_I-set,HMMPfam_ig,superfamily_Immunoglobulin - no_errors 552 6 1.07 354 217 37.80 NA NA NA +MTUS2 0 genome.wustl.edu 37 13 29600513 29600513 + Missense_Mutation SNP G G A TCGA-AB-2805-03B-01W-0728-08 TCGA-AB-2805-11B-01W-0728-08 G G G A G G Verified Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq 1 dbGAP Illumina HiSeq 722c3b06-dbea-4adc-8a7e-49f430211f6e 48eef5ef-c9dc-4c63-b2cd-1cec1dac4098 13 28498513 28498513 G A SNP KIAA0774 NM_001033602.2 human genbank 54_36p +1 validated missense c.1708 p.V570M 0.000 NULL NULL - no_errors 294 2 0.68 204 129 38.39 NA NA NA +IDH2 0 genome.wustl.edu 37 15 90631934 90631934 + Missense_Mutation SNP C C T rs121913502 TCGA-AB-2805-03B-01W-0728-08 TCGA-AB-2805-11B-01W-0728-08 C C C T C C Verified Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq 1 dbGAP Illumina HiSeq 722c3b06-dbea-4adc-8a7e-49f430211f6e 48eef5ef-c9dc-4c63-b2cd-1cec1dac4098 15 88432938 88432938 C T SNP IDH2 NM_002168.2 human genbank 54_36p -1 reviewed missense c.419 p.R140Q 1.000 HMMPfam_Iso_dh,superfamily_Isocitrate/Isopropylmalate dehydrogenase-like HMMPfam_Iso_dh,PatternScan_IDH_IMDH,superfamily_Isocitrate/Isopropylmalate dehydrogenase-like - no_errors 114 3 2.56 93 70 42.68 111 102 47.89 +MIR142 0 genome.wustl.edu 37 17 56408622 56408622 + RNA SNP C C G TCGA-AB-2805-03B-01W-0728-08 TCGA-AB-2805-11B-01W-0728-08 C C C G C C Verified Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq 1 dbGAP Illumina HiSeq 722c3b06-dbea-4adc-8a7e-49f430211f6e 48eef5ef-c9dc-4c63-b2cd-1cec1dac4098 17 53763621 53763621 C G SNP MIRN142 ENST00000384835 human ensembl 54_36p -1 known rna NULL NULL 1.000 - - - no_errors 257 0 0.00 114 39 25.16 78 21 21.21 +TCEB3B 0 genome.wustl.edu 37 18 44561077 44561077 + Missense_Mutation SNP C C T TCGA-AB-2805-03B-01W-0728-08 TCGA-AB-2805-11B-01W-0728-08 C C C T C C Verified Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq 1 dbGAP Illumina HiSeq 722c3b06-dbea-4adc-8a7e-49f430211f6e 48eef5ef-c9dc-4c63-b2cd-1cec1dac4098 18 42815075 42815075 C T SNP TCEB3B NM_016427.2 human genbank 54_36p -1 reviewed missense c.559 p.A187T 0.000 NULL HMMSmart_TFS2N,HMMPfam_Elongin_A,HMMPfam_TFIIS - no_errors 6 0 0.00 4 8 61.54 NA NA NA +LOC728115 0 genome.wustl.edu 37 18 57684225 57684225 + RNA SNP C C T TCGA-AB-2805-03B-01W-0728-08 TCGA-AB-2805-11B-01W-0728-08 C C C T C C Verified Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq 1 dbGAP Illumina HiSeq 722c3b06-dbea-4adc-8a7e-49f430211f6e 48eef5ef-c9dc-4c63-b2cd-1cec1dac4098 18 55835205 55835205 C T SNP LOC728115 XR_038858.1 human genbank 54_36p -1 model rna NULL NULL 0.881 - - - pseudogene 207 2 0.96 101 75 42.37 42 0 0.00 +FPR1 0 genome.wustl.edu 37 19 52249273 52249273 + Silent SNP G G A TCGA-AB-2805-03B-01W-0728-08 TCGA-AB-2805-11B-01W-0728-08 G G G A G G Verified Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq 1 dbGAP Illumina HiSeq 722c3b06-dbea-4adc-8a7e-49f430211f6e 48eef5ef-c9dc-4c63-b2cd-1cec1dac4098 19 56941085 56941085 G A SNP FPR1 NM_002029.3 human genbank 54_36p -1 validated silent c.975 p.T325 0.875 superfamily_Family A G protein-coupled receptor-like HMMPfam_7tm_1,PatternScan_G_PROTEIN_RECEP_F1_1,superfamily_Family A G protein-coupled receptor-like - no_errors 573 0 0.00 275 178 39.04 44 45 50.56 +KIR3DX1 0 genome.wustl.edu 37 19 55047063 55047063 + Missense_Mutation SNP G G A TCGA-AB-2805-03B-01W-0728-08 TCGA-AB-2805-11B-01W-0728-08 G G G A G G Verified Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq 1 dbGAP Illumina HiSeq 722c3b06-dbea-4adc-8a7e-49f430211f6e 48eef5ef-c9dc-4c63-b2cd-1cec1dac4098 19 59738875 59738875 G A SNP KIR3DX1 ENST00000221567 human ensembl 54_36p +1 known missense c.608 p.R203H 0.000 HMMSmart_SM00409,superfamily_Immunoglobulin HMMSmart_SM00409,HMMPfam_ig,superfamily_Immunoglobulin - no_errors 154 1 0.64 141 120 45.45 1 2 66.67 +RUNX1 0 genome.wustl.edu 37 21 36231783 36231783 + Nonsense_Mutation SNP G G A TCGA-AB-2805-03B-01W-0728-08 TCGA-AB-2805-11B-01W-0728-08 G G G A G G Verified Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq 1 dbGAP Illumina HiSeq 722c3b06-dbea-4adc-8a7e-49f430211f6e 48eef5ef-c9dc-4c63-b2cd-1cec1dac4098 21 35153653 35153653 G A SNP RUNX1 NM_001754.2 human genbank 54_36p -1 reviewed nonsense c.601 p.R201* 1.000 superfamily_p53-like transcription factors,HMMPfam_Runt superfamily_p53-like transcription factors,HMMPfam_Runt,HMMPfam_RunxI - no_errors 190 1 0.52 117 77 39.69 141 152 51.88 +RUNX1 0 genome.wustl.edu 37 21 36252939 36252940 + Frame_Shift_Ins INS - - G TCGA-AB-2805-03B-01W-0728-08 TCGA-AB-2805-11B-01W-0728-08 - - - G - - Verified Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq 1 dbGAP Illumina HiSeq 722c3b06-dbea-4adc-8a7e-49f430211f6e 48eef5ef-c9dc-4c63-b2cd-1cec1dac4098 21 35174809 35174810 - G INS RUNX1 NM_001754.2 human genbank 54_36p -1 reviewed frame_shift_ins c.423_422 p.A142fs 0.921:1.000 superfamily_p53-like transcription factors,HMMPfam_Runt superfamily_p53-like transcription factors,HMMPfam_Runt,HMMPfam_RunxI - no_errors 91 0 0.00 64 34 34.69 49 25 33.78 +KDM6A 0 genome.wustl.edu 37 X 44918514 44918514 + Missense_Mutation SNP C C A TCGA-AB-2806-03B-01W-0728-08 TCGA-AB-2806-11B-01W-0728-08 C C C A C C Verified Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq 1 dbGAP Illumina HiSeq 1db034eb-18af-4980-bd4a-b93b15bc07a2 18fd295f-1daf-4ceb-9bf8-6b42bf8f56eb X 44803458 44803458 C A SNP UTX NM_021140.2 human genbank 54_36p +1 validated missense c.997 p.Q333K 1.000 HMMPfam_TPR_1,HMMSmart_TPR,superfamily_SSF48452 HMMPfam_TPR_1,HMMSmart_JmjC,HMMPfam_JmjC,HMMSmart_TPR,superfamily_SSF48452 - no_errors 26 0 0.00 7 89 92.71 2 40 95.24 +OR13H1 0 genome.wustl.edu 37 X 130678939 130678939 + Missense_Mutation SNP C C T TCGA-AB-2806-03B-01W-0728-08 TCGA-AB-2806-11B-01W-0728-08 C C C T C C Verified Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq 1 dbGAP Illumina HiSeq 1db034eb-18af-4980-bd4a-b93b15bc07a2 18fd295f-1daf-4ceb-9bf8-6b42bf8f56eb X 130506620 130506620 C T SNP OR13H1 NM_001004486.1 human genbank 54_36p +1 provisional missense c.892 p.R298W 0.967 superfamily_SSF81321 HMMPfam_7tm_1,PatternScan_G_PROTEIN_RECEP_F1_1,superfamily_SSF81321 - no_errors 52 0 0.00 25 167 84.34 0 2 100.00 +CROCC 0 genome.wustl.edu 37 1 17275382 17275382 + Missense_Mutation SNP G G A TCGA-AB-2806-03B-01W-0728-08 TCGA-AB-2806-11B-01W-0728-08 G G G A G G Verified Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq 1 dbGAP Illumina HiSeq 1db034eb-18af-4980-bd4a-b93b15bc07a2 18fd295f-1daf-4ceb-9bf8-6b42bf8f56eb 1 17147969 17147969 G A SNP CROCC NM_014675.3 human genbank 54_36p +1 validated missense c.2797 p.E933K 0.870 NULL superfamily_Prefoldin - no_errors 32 0 0.00 39 11 22.00 13 0 0.00 +ZNF687 0 genome.wustl.edu 37 1 151260427 151260427 + Missense_Mutation SNP C C T TCGA-AB-2806-03B-01W-0728-08 TCGA-AB-2806-11B-01W-0728-08 C C C T C C Verified Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq 1 dbGAP Illumina HiSeq 1db034eb-18af-4980-bd4a-b93b15bc07a2 18fd295f-1daf-4ceb-9bf8-6b42bf8f56eb 1 149527051 149527051 C T SNP ZNF687 NM_020832.1 human genbank 54_36p +1 provisional missense c.1660 p.R554C 1.000 superfamily_C2H2 and C2HC zinc fingers HMMPfam_zf-C2H2,PatternScan_ZINC_FINGER_C2H2_1,HMMSmart_SM00355,superfamily_C2H2 and C2HC zinc fingers - no_errors 27 0 0.00 42 30 41.10 22 17 43.59 +NRXN1 0 genome.wustl.edu 37 2 50758395 50758395 + Missense_Mutation SNP C C T TCGA-AB-2806-03B-01W-0728-08 TCGA-AB-2806-11B-01W-0728-08 C C C T C C Verified Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq 1 dbGAP Illumina HiSeq 1db034eb-18af-4980-bd4a-b93b15bc07a2 18fd295f-1daf-4ceb-9bf8-6b42bf8f56eb 2 50611899 50611899 C T SNP NRXN1 NM_004801.1 human genbank 54_36p -1 reviewed missense c.2317 p.A773T 0.977 HMMSmart_SM00282,superfamily_Concanavalin A-like lectins/glucanases,HMMPfam_Laminin_G_2 PatternScan_ASX_HYDROXYL,HMMSmart_SM00282,HMMSmart_SM00294,HMMPfam_EGF,HMMSmart_SM00181,superfamily_Concanavalin A-like lectins/glucanases,HMMPfam_Laminin_G_2,superfamily_EGF/Laminin - no_errors 30 0 0.00 119 88 42.31 NA NA NA +LOC642635 0 genome.wustl.edu 37 2 154277404 154277404 + RNA SNP C C T TCGA-AB-2806-03B-01W-0728-08 TCGA-AB-2806-11B-01W-0728-08 C C C T C C Verified Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq 1 dbGAP Illumina HiSeq 1db034eb-18af-4980-bd4a-b93b15bc07a2 18fd295f-1daf-4ceb-9bf8-6b42bf8f56eb 2 153985650 153985650 C T SNP LOC642635 XR_016188.2 human genbank 54_36p -1 model rna NULL NULL 1.000 - - - pseudogene 33 1 2.94 109 107 48.64 NA NA NA +HCN1 0 genome.wustl.edu 37 5 45262184 45262184 + Missense_Mutation SNP G G T TCGA-AB-2806-03B-01W-0728-08 TCGA-AB-2806-11B-01W-0728-08 G G G T G G Verified Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq 1 dbGAP Illumina HiSeq 1db034eb-18af-4980-bd4a-b93b15bc07a2 18fd295f-1daf-4ceb-9bf8-6b42bf8f56eb 5 45297941 45297941 G T SNP HCN1 NM_021072.2 human genbank 54_36p -1 validated missense c.2512 p.R838S 1.000 NULL HMMPfam_cNMP_binding,HMMSmart_cNMP,HMMPfam_Ion_trans,HMMPfam_Ion_trans_N,PatternScan_CNMP_BINDING_1,PatternScan_CNMP_BINDING_2,superfamily_cNMP_binding,superfamily_SSF81324 - no_errors 9 0 0.00 27 24 47.06 NA NA NA +OPRM1 0 genome.wustl.edu 37 6 154411016 154411016 + Missense_Mutation SNP G G T TCGA-AB-2806-03B-01W-0728-08 TCGA-AB-2806-11B-01W-0728-08 G G G T G G Verified Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq 1 dbGAP Illumina HiSeq 1db034eb-18af-4980-bd4a-b93b15bc07a2 18fd295f-1daf-4ceb-9bf8-6b42bf8f56eb 6 154452709 154452709 G T SNP OPRM1 NM_001008505.3 human genbank 54_36p +1 validated missense c.346 p.D116Y 1.000 HMMPfam_7tm_1,superfamily_SSF81321 HMMPfam_7tm_1,PatternScan_G_PROTEIN_RECEP_F1_1,superfamily_SSF81321 - no_errors 57 0 0.00 132 69 34.33 NA NA NA +SCRIB 0 genome.wustl.edu 37 8 144891739 144891739 + Silent SNP G G C TCGA-AB-2806-03B-01W-0728-08 TCGA-AB-2806-11B-01W-0728-08 G G G C G G Verified Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq 1 dbGAP Illumina HiSeq 1db034eb-18af-4980-bd4a-b93b15bc07a2 18fd295f-1daf-4ceb-9bf8-6b42bf8f56eb 8 144963727 144963727 G C SNP SCRIB NM_182706.3 human genbank 54_36p -1 validated silent c.1680 p.A560 0.044 NULL HMMPfam_PDZ,HMMSmart_SM00228,superfamily_PDZ domain-like,HMMPfam_LRR_1,HMMSmart_SM00369,HMMSmart_SM00364,superfamily_RNI-like - no_errors 21 0 0.00 22 8 26.67 25 9 26.47 +C9orf78 0 genome.wustl.edu 37 9 132590500 132590500 + Missense_Mutation SNP G G C TCGA-AB-2806-03B-01W-0728-08 TCGA-AB-2806-11B-01W-0728-08 G G G C G G Verified Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq 1 dbGAP Illumina HiSeq 1db034eb-18af-4980-bd4a-b93b15bc07a2 18fd295f-1daf-4ceb-9bf8-6b42bf8f56eb 9 131630321 131630321 G C SNP C9orf78 NM_016520.2 human genbank 54_36p -1 validated missense c.810 p.N270K 0.973 NULL HMMPfam_Hep_59 - no_errors 25 0 0.00 86 70 44.59 55 43 43.88 +KIAA1217 0 genome.wustl.edu 37 10 24762592 24762592 + Missense_Mutation SNP G G A TCGA-AB-2806-03B-01W-0728-08 TCGA-AB-2806-11B-01W-0728-08 G G G A G G Verified Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq 1 dbGAP Illumina HiSeq 1db034eb-18af-4980-bd4a-b93b15bc07a2 18fd295f-1daf-4ceb-9bf8-6b42bf8f56eb 10 24802598 24802598 G A SNP KIAA1217 NM_019590.1 human genbank 54_36p +1 validated missense c.1282 p.A428T 0.889 NULL NULL - no_errors 47 0 0.00 132 76 36.36 1 3 75.00 +PLCE1 0 genome.wustl.edu 37 10 95791191 95791191 + Missense_Mutation SNP G G T TCGA-AB-2806-03B-01W-0728-08 TCGA-AB-2806-11B-01W-0728-08 G G G T G G Verified Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq 1 dbGAP Illumina HiSeq 1db034eb-18af-4980-bd4a-b93b15bc07a2 18fd295f-1daf-4ceb-9bf8-6b42bf8f56eb 10 95781181 95781181 G T SNP PLCE1 NM_016341.3 human genbank 54_36p +1 validated missense c.388 p.A130S 0.089 NULL HMMPfam_C2,HMMSmart_SM00239,HMMPfam_RA,HMMSmart_SM00314,HMMPfam_PI-PLC-X,HMMSmart_SM00148,HMMPfam_PI-PLC-Y,HMMSmart_SM00149,HMMPfam_RasGEF,HMMSmart_SM00147,superfamily_Ras GEF,superfamily_C2 domain (Calcium/lipid-binding domain CaLB),HMMPfam_efhand_like,superfamily_PLC-like phosphodiesterases,superfamily_EF-hand - no_errors 56 0 0.00 143 94 39.00 NA NA NA +OR4B1 0 genome.wustl.edu 37 11 48238468 48238468 + Missense_Mutation SNP C C T TCGA-AB-2806-03B-01W-0728-08 TCGA-AB-2806-11B-01W-0728-08 C C C T C C Verified Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq 1 dbGAP Illumina HiSeq 1db034eb-18af-4980-bd4a-b93b15bc07a2 18fd295f-1daf-4ceb-9bf8-6b42bf8f56eb 11 48195044 48195044 C T SNP OR4B1 NM_001005470.1 human genbank 54_36p +1 provisional missense c.107 p.T36M 0.008 superfamily_SSF81321 HMMPfam_7tm_1,PatternScan_G_PROTEIN_RECEP_F1_1,superfamily_SSF81321 - no_errors 90 0 0.00 236 176 42.51 NA NA NA +KDM2B 0 genome.wustl.edu 37 12 121880386 121880386 + Missense_Mutation SNP T T C TCGA-AB-2806-03B-01W-0728-08 TCGA-AB-2806-11B-01W-0728-08 T T T C T T Verified Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq 1 dbGAP Illumina HiSeq 1db034eb-18af-4980-bd4a-b93b15bc07a2 18fd295f-1daf-4ceb-9bf8-6b42bf8f56eb 12 120364769 120364769 T C SNP FBXL10 NM_032590.1 human genbank 54_36p -1 reviewed missense c.2858 p.E953G 1.000 NULL HMMPfam_F-box,HMMSmart_SM00249,HMMPfam_zf-CXXC,HMMSmart_SM00558,HMMSmart_SM00367,superfamily_FYVE/PHD zinc finger,HMMPfam_JmjC,superfamily_Clavaminate synthase-like,superfamily_RNI-like - no_errors 15 0 0.00 30 17 35.42 29 16 35.56 +SMEK1 0 genome.wustl.edu 37 14 91937204 91937204 + Missense_Mutation SNP G G C TCGA-AB-2806-03B-01W-0728-08 TCGA-AB-2806-11B-01W-0728-08 G G G C G G Verified Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq 1 dbGAP Illumina HiSeq 1db034eb-18af-4980-bd4a-b93b15bc07a2 18fd295f-1daf-4ceb-9bf8-6b42bf8f56eb 14 91006957 91006957 G C SNP SMEK1 NM_032560.4 human genbank 54_36p -1 validated missense c.1598 p.S533W 1.000 superfamily_ARM-type_fold HMMPfam_DUF625,superfamily_ARM-type_fold,superfamily_SSF50729 - no_errors 42 0 0.00 139 90 39.30 80 66 44.90 +NPC1 0 genome.wustl.edu 37 18 21115603 21115603 + Missense_Mutation SNP C C T TCGA-AB-2806-03B-01W-0728-08 TCGA-AB-2806-11B-01W-0728-08 C C C T C C Verified Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq 1 dbGAP Illumina HiSeq 1db034eb-18af-4980-bd4a-b93b15bc07a2 18fd295f-1daf-4ceb-9bf8-6b42bf8f56eb 18 19369601 19369601 C T SNP NPC1 NM_000271.3 human genbank 54_36p -1 validated missense c.3307 p.G1103S 0.899 HMMPfam_Patched,superfamily_SSF82866 HMMPfam_Patched,superfamily_SSF82866 - no_errors 32 0 0.00 83 61 42.07 12 5 29.41 +HKR1 0 genome.wustl.edu 37 19 37854501 37854501 + Missense_Mutation SNP G G A TCGA-AB-2806-03B-01W-0728-08 TCGA-AB-2806-11B-01W-0728-08 G G G A G G Verified Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq 1 dbGAP Illumina HiSeq 1db034eb-18af-4980-bd4a-b93b15bc07a2 18fd295f-1daf-4ceb-9bf8-6b42bf8f56eb 19 42546341 42546341 G A SNP HKR1 NM_181786.2 human genbank 54_36p +1 provisional missense c.1804 p.A602T 0.993 superfamily_C2H2 and C2HC zinc fingers HMMPfam_KRAB,HMMSmart_SM00349,superfamily_KRAB domain (Kruppel-associated box Pfam 01352),HMMPfam_zf-C2H2,PatternScan_ZINC_FINGER_C2H2_1,HMMSmart_SM00355,superfamily_C2H2 and C2HC zinc fingers - no_errors 14 0 0.00 63 48 42.48 17 22 55.00 +FBXO11 0 genome.wustl.edu 37 2 48036754 48036755 + Frame_Shift_Ins INS - - GA TCGA-AB-2806-03B-01W-0728-08 TCGA-AB-2806-11B-01W-0728-08 - - - GA - - Verified Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq 1 dbGAP Illumina HiSeq 1db034eb-18af-4980-bd4a-b93b15bc07a2 18fd295f-1daf-4ceb-9bf8-6b42bf8f56eb 2 47890258 47890259 - GA INS FBXO11 NM_025133.1 human genbank 54_36p -1 reviewed frame_shift_ins c.2179_2178 p.N726fs 1.000:1.000 HMMSmart_PbH1,HMMSmart_CASH,superfamily_Pectin_lyas_like,superfamily_SSF81383 HMMPfam_F-box,HMMSmart_FBOX,HMMPfam_zf-UBR,HMMSmart_PbH1,HMMSmart_CASH,superfamily_Pectin_lyas_like,superfamily_SSF81383 - no_errors 42 0 0.00 156 91 36.84 39 14 26.42 +GIGYF2 0 genome.wustl.edu 37 2 233681679 233681680 + Frame_Shift_Ins INS - - CGGTAGGACGGGTC TCGA-AB-2806-03B-01W-0728-08 TCGA-AB-2806-11B-01W-0728-08 - - - CGGTAGGACGGGTC - - Verified Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq 1 dbGAP Illumina HiSeq 1db034eb-18af-4980-bd4a-b93b15bc07a2 18fd295f-1daf-4ceb-9bf8-6b42bf8f56eb 2 233389923 233389924 - CGGTAGGACGGGTC INS GIGYF2 NM_001103147.1 human genbank 54_36p +1 validated frame_shift_ins c.2370_2371 p.R791fs 0.997:0.997 NULL HMMPfam_GYF,HMMSmart_GYF,superfamily_GYF - no_errors NA NA NA NA NA NA NA NA NA +LOC100128989 0 genome.wustl.edu 37 X 74757519 74757519 + Missense_Mutation SNP T T G TCGA-AB-2807-03D-01W-0755-09 TCGA-AB-2807-11D-01W-0755-09 T T T G T T Verified Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq 1 dbGAP Illumina HiSeq 3d15bdda-bbb7-4e3d-bdd6-7546d2905e95 b5c93c1e-585d-4cf8-a2b8-bd1b9eb4994c X 74674244 74674244 T G SNP LOC100128989 XM_001716779.1 human genbank 54_36p -1 model missense c.366 p.K122N 0.999 NULL NULL - no_start_codon 424 2 0.47 293 166 36.17 NA NA NA +NXF3 0 genome.wustl.edu 37 X 102335541 102335541 + Splice_Site SNP C C T TCGA-AB-2807-03D-01W-0755-09 TCGA-AB-2807-11D-01W-0755-09 C C C T C C Verified Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq 1 dbGAP Illumina HiSeq 3d15bdda-bbb7-4e3d-bdd6-7546d2905e95 b5c93c1e-585d-4cf8-a2b8-bd1b9eb4994c X 102222197 102222197 C T SNP NXF3 NM_022052.1 human genbank 54_36p -1 reviewed splice_site c.891-1 e10-1 0.376 - - - no_errors 340 0 0.00 107 70 39.55 NA NA NA +CTTNBP2NL 0 genome.wustl.edu 37 1 112997103 112997103 + Silent SNP G G A TCGA-AB-2807-03D-01W-0755-09 TCGA-AB-2807-11D-01W-0755-09 G G G A G G Verified Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq 1 dbGAP Illumina HiSeq 3d15bdda-bbb7-4e3d-bdd6-7546d2905e95 b5c93c1e-585d-4cf8-a2b8-bd1b9eb4994c 1 112798626 112798626 G A SNP CTTNBP2NL NM_018704.2 human genbank 54_36p +1 validated silent c.363 p.R121 1.000 HMMPfam_CortBP2 HMMPfam_CortBP2 - no_errors 360 9 2.44 91 74 44.85 2 1 33.33 +TBC1D8 0 genome.wustl.edu 37 2 101643864 101643864 + Missense_Mutation SNP T T G TCGA-AB-2807-03D-01W-0755-09 TCGA-AB-2807-11D-01W-0755-09 T T T G T T Verified Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq 1 dbGAP Illumina HiSeq 3d15bdda-bbb7-4e3d-bdd6-7546d2905e95 b5c93c1e-585d-4cf8-a2b8-bd1b9eb4994c 2 101010296 101010296 T G SNP TBC1D8 NM_001102426.1 human genbank 54_36p -1 validated missense c.2456 p.E819A 1.000 superfamily_EF-hand HMMPfam_TBC,HMMSmart_SM00164,superfamily_Ypt/Rab-GAP domain of gyp1p,HMMPfam_GRAM,HMMSmart_SM00568,superfamily_EF-hand - no_errors 205 3 1.44 103 97 48.50 13 13 50.00 +CCDC150 0 genome.wustl.edu 37 2 197594112 197594112 + Splice_Site SNP G G A TCGA-AB-2807-03D-01W-0755-09 TCGA-AB-2807-11D-01W-0755-09 G G G A G G Verified Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq 1 dbGAP Illumina HiSeq 3d15bdda-bbb7-4e3d-bdd6-7546d2905e95 b5c93c1e-585d-4cf8-a2b8-bd1b9eb4994c 2 197302357 197302357 G A SNP CCDC150 NM_001080539.1 human genbank 54_36p +1 provisional splice_site c.2751+1 e23+1 0.997 - - - no_errors 345 3 0.86 284 210 42.51 NA NA NA +uc002vdl.1 0 genome.wustl.edu 37 2 210783294 210783294 + Silent SNP G G A TCGA-AB-2807-03D-01W-0755-09 TCGA-AB-2807-11D-01W-0755-09 G G G A G G Verified Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq 1 dbGAP Illumina HiSeq 3d15bdda-bbb7-4e3d-bdd6-7546d2905e95 b5c93c1e-585d-4cf8-a2b8-bd1b9eb4994c 2 210491539 210491539 G A SNP uc002vdl.1 ENST00000272845 human ensembl 54_36p +1 known silent c.2577 p.P859 0.915 NULL NULL - no_start_codon 243 0 0.00 227 237 51.08 NA NA NA +ODZ3 0 genome.wustl.edu 37 4 183664410 183664410 + Missense_Mutation SNP G G A TCGA-AB-2807-03D-01W-0755-09 TCGA-AB-2807-11D-01W-0755-09 G G G A G G Verified Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq 1 dbGAP Illumina HiSeq 3d15bdda-bbb7-4e3d-bdd6-7546d2905e95 b5c93c1e-585d-4cf8-a2b8-bd1b9eb4994c 4 183901404 183901404 G A SNP ODZ3 NM_001080477.1 human genbank 54_36p +1 provisional missense c.3467 p.R1156H 1.000 superfamily_ConA_like_lec_gl HMMPfam_NHL,HMMSmart_EGF,HMMPfam_RHS_repeat,superfamily_CarboxypepD_reg,superfamily_ConA_like_lec_gl,HMMPfam_Ten_N,PatternScan_EGF_1,PatternScan_EGF_2,HMMPfam_EGF_2,superfamily_SSF101898,superfamily_SSF57196,superfamily_SSF63829 - no_errors 166 0 0.00 126 119 48.57 NA NA NA +ZNF311 0 genome.wustl.edu 37 6 28963746 28963746 + Missense_Mutation SNP G G A TCGA-AB-2807-03D-01W-0755-09 TCGA-AB-2807-11D-01W-0755-09 G G G A G G Verified Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq 1 dbGAP Illumina HiSeq 3d15bdda-bbb7-4e3d-bdd6-7546d2905e95 b5c93c1e-585d-4cf8-a2b8-bd1b9eb4994c 6 29071725 29071725 G A SNP ZNF311 NM_001010877.2 human genbank 54_36p -1 provisional missense c.1033 p.R345C 0.000 HMMPfam_zf-C2H2,PatternScan_ZINC_FINGER_C2H2_1,HMMSmart_SM00355,superfamily_C2H2 and C2HC zinc fingers HMMPfam_KRAB,HMMSmart_SM00349,superfamily_KRAB domain (Kruppel-associated box Pfam 01352),HMMPfam_zf-C2H2,PatternScan_ZINC_FINGER_C2H2_1,HMMSmart_SM00355,superfamily_C2H2 and C2HC zinc fingers - no_errors 575 3 0.52 179 183 50.55 2 4 66.67 +AKAP12 0 genome.wustl.edu 37 6 151673742 151673742 + Missense_Mutation SNP G G A TCGA-AB-2807-03D-01W-0755-09 TCGA-AB-2807-11D-01W-0755-09 G G G A G G Verified Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq 1 dbGAP Illumina HiSeq 3d15bdda-bbb7-4e3d-bdd6-7546d2905e95 b5c93c1e-585d-4cf8-a2b8-bd1b9eb4994c 6 151715435 151715435 G A SNP AKAP12 NM_005100.3 human genbank 54_36p +1 reviewed missense c.4216 p.V1406I 0.000 NULL HMMPfam_WSK,HMMPfam_RII_binding_1 - no_errors 223 1 0.45 233 205 46.80 NA NA NA +LPA 0 genome.wustl.edu 37 6 160998167 160998167 + Splice_Site SNP C C T TCGA-AB-2807-03D-01W-0755-09 TCGA-AB-2807-11D-01W-0755-09 C C C T C C Verified Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq 1 dbGAP Illumina HiSeq 3d15bdda-bbb7-4e3d-bdd6-7546d2905e95 b5c93c1e-585d-4cf8-a2b8-bd1b9eb4994c 6 160918157 160918157 C T SNP LPA NM_005577.2 human genbank 54_36p -1 validated splice_site c.4631+1 e28+1 1.000 - - - no_errors 154 0 0.00 325 217 40.04 NA NA NA +POM121L12 0 genome.wustl.edu 37 7 53103840 53103840 + Missense_Mutation SNP G G A TCGA-AB-2807-03D-01W-0755-09 TCGA-AB-2807-11D-01W-0755-09 G G G A G G Verified Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq 1 dbGAP Illumina HiSeq 3d15bdda-bbb7-4e3d-bdd6-7546d2905e95 b5c93c1e-585d-4cf8-a2b8-bd1b9eb4994c 7 53071334 53071334 G A SNP DKFZp564N2472 NM_182595.2 human genbank 54_36p +1 validated missense c.476 p.R159H 0.001 NULL NULL - no_errors 12 0 0.00 16 7 30.43 NA NA NA +PCLO 0 genome.wustl.edu 37 7 82538317 82538317 + Missense_Mutation SNP C C T TCGA-AB-2807-03D-01W-0755-09 TCGA-AB-2807-11D-01W-0755-09 C C C T C C Verified Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq 1 dbGAP Illumina HiSeq 3d15bdda-bbb7-4e3d-bdd6-7546d2905e95 b5c93c1e-585d-4cf8-a2b8-bd1b9eb4994c 7 82376253 82376253 C T SNP PCLO NM_033026.2 human genbank 54_36p -1 validated missense c.13313 p.R4438H 1.000 NULL HMMPfam_C2,HMMSmart_SM00239,HMMPfam_PDZ,HMMSmart_SM00228,superfamily_PDZ domain-like,HMMPfam_zf-piccolo,superfamily_C2 domain (Calcium/lipid-binding domain CaLB),superfamily_FYVE/PHD zinc finger - no_errors 97 2 2.02 182 122 40.13 NA NA NA +FLNC 0 genome.wustl.edu 37 7 128480714 128480714 + Silent SNP C C T TCGA-AB-2807-03D-01W-0755-09 TCGA-AB-2807-11D-01W-0755-09 C C C T C C Verified Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq 1 dbGAP Illumina HiSeq 3d15bdda-bbb7-4e3d-bdd6-7546d2905e95 b5c93c1e-585d-4cf8-a2b8-bd1b9eb4994c 7 128267950 128267950 C T SNP FLNC NM_001458.1 human genbank 54_36p +1 reviewed silent c.1662 p.Y554 0.972 HMMSmart_SM00557,superfamily_E set domains,HMMPfam_Filamin HMMSmart_SM00557,PatternScan_ACTININ_1,PatternScan_ACTININ_2,HMMPfam_CH,HMMSmart_SM00033,superfamily_E set domains,superfamily_Calponin-homology domain CH-domain,HMMPfam_Filamin - no_errors 1521 59 3.73 97 88 47.57 NA NA NA +GPR124 0 genome.wustl.edu 37 8 37697763 37697763 + Missense_Mutation SNP C C T TCGA-AB-2807-03D-01W-0755-09 TCGA-AB-2807-11D-01W-0755-09 C C C T C C Verified Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq 1 dbGAP Illumina HiSeq 3d15bdda-bbb7-4e3d-bdd6-7546d2905e95 b5c93c1e-585d-4cf8-a2b8-bd1b9eb4994c 8 37816921 37816921 C T SNP GPR124 NM_032777.7 human genbank 54_36p +1 validated missense c.2615 p.P872L 0.875 NULL HMMPfam_GPS,HMMSmart_SM00082,HMMPfam_LRR_1,HMMPfam_HRM,HMMSmart_SM00369,HMMSmart_SM00409,PatternScan_G_PROTEIN_RECEP_F2_2,superfamily_Hormone receptor domain (HRM Pfam 02793),superfamily_L domain-like - no_errors 185 0 0.00 96 35 26.72 3 1 25.00 +P2RY2 0 genome.wustl.edu 37 11 72946279 72946279 + Missense_Mutation SNP T T C TCGA-AB-2807-03D-01W-0755-09 TCGA-AB-2807-11D-01W-0755-09 T T T C T T Verified Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq 1 dbGAP Illumina HiSeq 3d15bdda-bbb7-4e3d-bdd6-7546d2905e95 b5c93c1e-585d-4cf8-a2b8-bd1b9eb4994c 11 72623927 72623927 T C SNP P2RY2 NM_002564.2 human genbank 54_36p +1 reviewed missense c.1075 p.S359P 0.000 NULL HMMPfam_7tm_1,PatternScan_G_PROTEIN_RECEP_F1_1,superfamily_Family A G protein-coupled receptor-like - no_errors 1258 48 3.67 84 86 50.59 5 0 0.00 +LOC100129218 0 genome.wustl.edu 37 12 52910546 52910546 + Missense_Mutation SNP G G T TCGA-AB-2807-03D-01W-0755-09 TCGA-AB-2807-11D-01W-0755-09 G G G T G G Verified Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq 1 dbGAP Illumina HiSeq 3d15bdda-bbb7-4e3d-bdd6-7546d2905e95 b5c93c1e-585d-4cf8-a2b8-bd1b9eb4994c 12 51196813 51196813 G T SNP LOC100129218 XM_001718439.1 human genbank 54_36p +1 model missense c.1642 p.G548C 1.000 NULL NULL - no_errors 216 7 3.14 118 112 48.70 0 2 100.00 +GCN1L1 0 genome.wustl.edu 37 12 120572142 120572142 + Missense_Mutation SNP G G A TCGA-AB-2807-03D-01W-0755-09 TCGA-AB-2807-11D-01W-0755-09 G G G A G G Verified Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq 1 dbGAP Illumina HiSeq 3d15bdda-bbb7-4e3d-bdd6-7546d2905e95 b5c93c1e-585d-4cf8-a2b8-bd1b9eb4994c 12 119056525 119056525 G A SNP GCN1L1 NM_006836.1 human genbank 54_36p -1 validated missense c.7270 p.R2424W 1.000 HMMPfam_HEAT,superfamily_ARM repeat HMMPfam_HEAT,superfamily_ARM repeat - no_errors 118 1 0.84 83 75 47.47 39 34 46.58 +DCLK1 0 genome.wustl.edu 37 13 36445426 36445426 + Missense_Mutation SNP C C T rs56185003 TCGA-AB-2807-03D-01W-0755-09 TCGA-AB-2807-11D-01W-0755-09 C C C T C C Verified Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq 1 dbGAP Illumina HiSeq 3d15bdda-bbb7-4e3d-bdd6-7546d2905e95 b5c93c1e-585d-4cf8-a2b8-bd1b9eb4994c 13 35343426 35343426 C T SNP DCLK1 NM_004734.3 human genbank 54_36p -1 validated missense c.875 p.R292H 1.000 NULL HMMSmart_S_TKc,HMMPfam_DCX,HMMSmart_DCX,PatternScan_PROTEIN_KINASE_ST,superfamily_Kinase_like,PatternScan_PROTEIN_KINASE_ATP,HMMPfam_Pkinase,superfamily_SSF89837 - no_errors 368 5 1.34 251 248 49.60 NA NA NA +TYRO3 0 genome.wustl.edu 37 15 41854889 41854889 + Missense_Mutation SNP C C T TCGA-AB-2807-03D-01W-0755-09 TCGA-AB-2807-11D-01W-0755-09 C C C T C C Verified Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq 1 dbGAP Illumina HiSeq 3d15bdda-bbb7-4e3d-bdd6-7546d2905e95 b5c93c1e-585d-4cf8-a2b8-bd1b9eb4994c 15 39642181 39642181 C T SNP TYRO3 NM_006293.2 human genbank 54_36p +1 provisional missense c.553 p.P185S 0.035 HMMSmart_IG,HMMPfam_ig,superfamily_SSF48726 HMMPfam_Pkinase_Tyr,HMMSmart_TyrKc,HMMSmart_IGc2,HMMSmart_IG,HMMPfam_fn3,HMMSmart_FN3,PatternScan_PROTEIN_KINASE_TYR,superfamily_FN_III-like,superfamily_Kinase_like,HMMPfam_ig,PatternScan_PROTEIN_KINASE_ATP,superfamily_SSF48726 - no_errors 574 0 0.00 54 55 50.46 NA NA NA +FAM154B 0 genome.wustl.edu 37 15 82574495 82574495 + Missense_Mutation SNP C C T TCGA-AB-2807-03D-01W-0755-09 TCGA-AB-2807-11D-01W-0755-09 C C C T C C Verified Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq 1 dbGAP Illumina HiSeq 3d15bdda-bbb7-4e3d-bdd6-7546d2905e95 b5c93c1e-585d-4cf8-a2b8-bd1b9eb4994c 15 80361550 80361550 C T SNP FAM154B NM_001008226.1 human genbank 54_36p +1 predicted missense c.289 p.L97F 0.864 NULL NULL - no_errors 132 0 0.00 119 104 46.64 NA NA NA +ALPK3 0 genome.wustl.edu 37 15 85401322 85401322 + Missense_Mutation SNP C C T TCGA-AB-2807-03D-01W-0755-09 TCGA-AB-2807-11D-01W-0755-09 C C C T C C Verified Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq 1 dbGAP Illumina HiSeq 3d15bdda-bbb7-4e3d-bdd6-7546d2905e95 b5c93c1e-585d-4cf8-a2b8-bd1b9eb4994c 15 83202326 83202326 C T SNP ALPK3 NM_020778.4 human genbank 54_36p +1 validated missense c.3959 p.A1320V 0.000 NULL HMMSmart_SM00408,HMMSmart_SM00409,HMMPfam_Alpha_kinase,HMMSmart_SM00811,superfamily_Protein kinase-like (PK-like),HMMPfam_I-set,superfamily_Immunoglobulin - no_errors 47 1 2.08 56 50 46.73 1 0 0.00 +IDH2 0 genome.wustl.edu 37 15 90631934 90631934 + Missense_Mutation SNP C C T rs121913502 TCGA-AB-2807-03D-01W-0755-09 TCGA-AB-2807-11D-01W-0755-09 C C C T C C Verified Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq 1 dbGAP Illumina HiSeq 3d15bdda-bbb7-4e3d-bdd6-7546d2905e95 b5c93c1e-585d-4cf8-a2b8-bd1b9eb4994c 15 88432938 88432938 C T SNP IDH2 NM_002168.2 human genbank 54_36p -1 reviewed missense c.419 p.R140Q 1.000 HMMPfam_Iso_dh,superfamily_Isocitrate/Isopropylmalate dehydrogenase-like HMMPfam_Iso_dh,PatternScan_IDH_IMDH,superfamily_Isocitrate/Isopropylmalate dehydrogenase-like - no_errors 153 1 0.65 97 82 45.81 160 132 45.05 +CAMKK1 0 genome.wustl.edu 37 17 3785557 3785557 + Missense_Mutation SNP G G A TCGA-AB-2807-03D-01W-0755-09 TCGA-AB-2807-11D-01W-0755-09 G G G A G G Verified Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq 1 dbGAP Illumina HiSeq 3d15bdda-bbb7-4e3d-bdd6-7546d2905e95 b5c93c1e-585d-4cf8-a2b8-bd1b9eb4994c 17 3732306 3732306 G A SNP CAMKK1 NM_172207.2 human genbank 54_36p -1 reviewed missense c.793 p.R265C 0.001 HMMSmart_S_TKc,superfamily_Kinase_like,HMMPfam_Pkinase HMMSmart_S_TKc,PatternScan_PROTEIN_KINASE_ST,superfamily_Kinase_like,PatternScan_PROTEIN_KINASE_ATP,HMMPfam_Pkinase - no_errors 293 3 1.01 74 49 39.84 4 2 33.33 +USP6 0 genome.wustl.edu 37 17 5064824 5064824 + Missense_Mutation SNP G G A TCGA-AB-2807-03D-01W-0755-09 TCGA-AB-2807-11D-01W-0755-09 G G G A G G Verified Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq 1 dbGAP Illumina HiSeq 3d15bdda-bbb7-4e3d-bdd6-7546d2905e95 b5c93c1e-585d-4cf8-a2b8-bd1b9eb4994c 17 5005548 5005548 G A SNP USP6 NM_004505.2 human genbank 54_36p +1 validated missense c.2830 p.D944N 1.000 HMMPfam_UCH,superfamily_Cysteine proteinases HMMPfam_TBC,HMMSmart_SM00164,superfamily_Ypt/Rab-GAP domain of gyp1p,HMMPfam_UCH,PatternScan_UCH_2_1,PatternScan_UCH_2_2,superfamily_Cysteine proteinases - no_errors 359 1 0.28 291 218 42.83 NA NA NA +LINC00324 0 genome.wustl.edu 37 17 8125888 8125888 + Missense_Mutation SNP T T C TCGA-AB-2807-03D-01W-0755-09 TCGA-AB-2807-11D-01W-0755-09 T T T C T T Verified Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq 1 dbGAP Illumina HiSeq 3d15bdda-bbb7-4e3d-bdd6-7546d2905e95 b5c93c1e-585d-4cf8-a2b8-bd1b9eb4994c 17 8066613 8066613 T C SNP C17orf44 ENST00000315707 human ensembl 54_36p -1 known missense c.316 p.I106V 0.000 NULL NULL - no_errors 216 0 0.00 160 162 50.15 1 0 0.00 +KRT20 0 genome.wustl.edu 37 17 39041199 39041199 + Missense_Mutation SNP C C T TCGA-AB-2807-03D-01W-0755-09 TCGA-AB-2807-11D-01W-0755-09 C C C T C C Verified Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq 1 dbGAP Illumina HiSeq 3d15bdda-bbb7-4e3d-bdd6-7546d2905e95 b5c93c1e-585d-4cf8-a2b8-bd1b9eb4994c 17 36294725 36294725 C T SNP KRT20 NM_019010.1 human genbank 54_36p -1 reviewed missense c.239 p.R80H 1.000 HMMPfam_Filament HMMPfam_Filament,PatternScan_IF - no_errors 278 1 0.36 258 41 13.71 NA NA NA +MIR142 0 genome.wustl.edu 37 17 56408625 56408625 + RNA SNP T T C TCGA-AB-2807-03D-01W-0755-09 TCGA-AB-2807-11D-01W-0755-09 T T T C T T Verified Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq 1 dbGAP Illumina HiSeq 3d15bdda-bbb7-4e3d-bdd6-7546d2905e95 b5c93c1e-585d-4cf8-a2b8-bd1b9eb4994c 17 53763624 53763624 T C SNP MIRN142 ENST00000384835 human ensembl 54_36p -1 known rna NULL NULL 1.000 - - - no_errors 291 0 0.00 77 50 39.37 25 26 50.98 +LAMA1 0 genome.wustl.edu 37 18 7036046 7036046 + Nonsense_Mutation SNP G G T TCGA-AB-2807-03D-01W-0755-09 TCGA-AB-2807-11D-01W-0755-09 G G G T G G Verified Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq 1 dbGAP Illumina HiSeq 3d15bdda-bbb7-4e3d-bdd6-7546d2905e95 b5c93c1e-585d-4cf8-a2b8-bd1b9eb4994c 18 7026046 7026046 G T SNP LAMA1 NM_005559.2 human genbank 54_36p -1 validated nonsense c.1779 p.Y593* 0.990 HMMPfam_Laminin_B,superfamily_Concanavalin A-like lectins/glucanases,HMMSmart_SM00281 HMMPfam_Laminin_B,HMMSmart_SM00282,HMMPfam_Laminin_EGF,HMMSmart_SM00180,PatternScan_EGF_LAM_1,HMMSmart_SM00181,HMMPfam_Laminin_N,HMMSmart_SM00136,superfamily_Galactose-binding domain-like,superfamily_Concanavalin A-like lectins/glucanases,HMMPfam_Laminin_I,HMMPfam_Laminin_II,HMMPfam_Laminin_G_1,HMMPfam_Laminin_G_2,PatternScan_EGF_1,PatternScan_EGF_2,HMMSmart_SM00281,superfamily_EGF/Laminin - no_errors 378 14 3.57 140 110 44.00 NA NA NA +LOC728205 0 genome.wustl.edu 37 18 61164540 61164540 + RNA SNP G G A TCGA-AB-2807-03D-01W-0755-09 TCGA-AB-2807-11D-01W-0755-09 G G G A G G Verified Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq 1 dbGAP Illumina HiSeq 3d15bdda-bbb7-4e3d-bdd6-7546d2905e95 b5c93c1e-585d-4cf8-a2b8-bd1b9eb4994c 18 59315520 59315520 G A SNP LOC728205 XR_015404.1 human genbank 54_36p +1 model rna NULL NULL 1.000 - - - pseudogene 141 3 2.07 155 153 49.51 NA NA NA +POLR2E 0 genome.wustl.edu 37 19 1090936 1090936 + Nonsense_Mutation SNP C C A TCGA-AB-2807-03D-01W-0755-09 TCGA-AB-2807-11D-01W-0755-09 C C C A C C Verified Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq 1 dbGAP Illumina HiSeq 3d15bdda-bbb7-4e3d-bdd6-7546d2905e95 b5c93c1e-585d-4cf8-a2b8-bd1b9eb4994c 19 1041936 1041936 C A SNP POLR2E NM_002695.3 human genbank 54_36p -1 reviewed nonsense c.400 p.E134* 1.000 superfamily_RNA_pol_Rpb5_N HMMPfam_RNA_pol_Rpb5_C,PatternScan_RNA_POL_H_23KD,superfamily_RNApol_RPB5_like,HMMPfam_RNA_pol_Rpb5_N,superfamily_RNA_pol_Rpb5_N - no_errors 32 0 0.00 16 10 38.46 34 7 17.07 +C20orf26 0 genome.wustl.edu 37 20 20079446 20079446 + Nonsense_Mutation SNP C C T TCGA-AB-2807-03D-01W-0755-09 TCGA-AB-2807-11D-01W-0755-09 C C C T C C Verified Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq 1 dbGAP Illumina HiSeq 3d15bdda-bbb7-4e3d-bdd6-7546d2905e95 b5c93c1e-585d-4cf8-a2b8-bd1b9eb4994c 20 20027446 20027446 C T SNP C20orf26 NM_015585.2 human genbank 54_36p +1 predicted nonsense c.847 p.R283* 0.000 NULL superfamily_Acyl-CoA N-acyltransferases (Nat),superfamily_FAD/NAD(P)-binding domain - no_errors 914 2 0.22 255 229 47.31 NA NA NA +OSBP2 0 genome.wustl.edu 37 22 31266557 31266557 + Missense_Mutation SNP G G C TCGA-AB-2807-03D-01W-0755-09 TCGA-AB-2807-11D-01W-0755-09 G G G C G G Verified Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq 1 dbGAP Illumina HiSeq 3d15bdda-bbb7-4e3d-bdd6-7546d2905e95 b5c93c1e-585d-4cf8-a2b8-bd1b9eb4994c 22 29596557 29596557 G C SNP OSBP2 NM_030758.3 human genbank 54_36p +1 reviewed missense c.995 p.R332P 1.000 NULL HMMPfam_Oxysterol_BP,HMMPfam_PH,HMMSmart_SM00233,PatternScan_OSBP,superfamily_PH domain-like - no_errors 44 1 2.22 22 19 46.34 0 2 100.00 +C22orf42 0 genome.wustl.edu 37 22 32555094 32555094 + Missense_Mutation SNP C C A TCGA-AB-2807-03D-01W-0755-09 TCGA-AB-2807-11D-01W-0755-09 C C C A C C Verified Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq 1 dbGAP Illumina HiSeq 3d15bdda-bbb7-4e3d-bdd6-7546d2905e95 b5c93c1e-585d-4cf8-a2b8-bd1b9eb4994c 22 30885094 30885094 C A SNP C22orf42 NM_001010859.1 human genbank 54_36p -1 provisional missense c.109 p.A37S 0.000 NULL NULL - no_errors 370 1 0.27 131 138 51.30 NA NA NA +ASXL1 0 genome.wustl.edu 37 20 31022727 31022727 + Frame_Shift_Del DEL G G - TCGA-AB-2807-03D-01W-0755-09 TCGA-AB-2807-11D-01W-0755-09 G G G - G G Verified Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq 1 dbGAP Illumina HiSeq 3d15bdda-bbb7-4e3d-bdd6-7546d2905e95 b5c93c1e-585d-4cf8-a2b8-bd1b9eb4994c 20 30486388 30486388 G - DEL ASXL1 NM_015338.4 human genbank 54_36p +1 reviewed frame_shift_del c.2212 p.G738fs 0.000 NULL NULL - no_errors 65 4 5.80 61 62 50.41 28 23 45.10 +RUNX1 0 genome.wustl.edu 37 21 36252856 36252861 + In_Frame_Del DEL CTTCCA CTTCCA - TCGA-AB-2807-03D-01W-0755-09 TCGA-AB-2807-11D-01W-0755-09 CTTCCA CTTCCA CTTCCA - CTTCCA CTTCCA Verified Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq 1 dbGAP Illumina HiSeq 3d15bdda-bbb7-4e3d-bdd6-7546d2905e95 b5c93c1e-585d-4cf8-a2b8-bd1b9eb4994c 21 35174726 35174731 CTTCCA - DEL RUNX1 NM_001754.2 human genbank 54_36p -1 reviewed in_frame_del c.506_501 p.SG167in_frame_del 1.000:1.000:1.000:1.000:1.000:0.990 superfamily_p53-like transcription factors,HMMPfam_Runt superfamily_p53-like transcription factors,HMMPfam_Runt,HMMPfam_RunxI - no_errors NA NA NA NA NA NA NA NA NA +GJA4 0 genome.wustl.edu 37 1 35260717 35260717 + Silent SNP G G A TCGA-AB-2808-03D-01W-0755-09 TCGA-AB-2808-11D-01W-0755-09 G G G A G G Verified Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq 1 dbGAP Illumina HiSeq 06038210-fb82-4e20-8c82-d6695453eecb 92b4a800-c7d2-4f97-94fc-85d30528c574 1 35033304 35033304 G A SNP GJA4 NM_002060.2 human genbank 54_36p +1 reviewed silent c.903 p.A301 0.012 NULL HMMPfam_Connexin,HMMSmart_SM00037,PatternScan_CONNEXINS_1,PatternScan_CONNEXINS_2,HMMPfam_Connexin_CCC - no_errors 43 1 2.27 37 42 53.16 NA NA NA +CSF3R 0 genome.wustl.edu 37 1 36933434 36933434 + Missense_Mutation SNP G G A TCGA-AB-2808-03D-01W-0755-09 TCGA-AB-2808-11D-01W-0755-09 G G G A G G Verified Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq 1 dbGAP Illumina HiSeq 06038210-fb82-4e20-8c82-d6695453eecb 92b4a800-c7d2-4f97-94fc-85d30528c574 1 36706021 36706021 G A SNP CSF3R NM_156039.2 human genbank 54_36p -1 reviewed missense c.1853 p.T618I 0.989 superfamily_FN_III-like PatternScan_HEMATOPO_REC_L_F2,HMMPfam_fn3,HMMSmart_FN3,superfamily_FN_III-like,HMMPfam_Lep_receptor_Ig - no_errors 61 0 0.00 184 39 17.33 250 95 27.54 +NRAS 0 genome.wustl.edu 37 1 115258744 115258744 + Missense_Mutation SNP C C T rs121434596 TCGA-AB-2808-03D-01W-0755-09 TCGA-AB-2808-11D-01W-0755-09 C C C T C C Verified Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq 1 dbGAP Illumina HiSeq 06038210-fb82-4e20-8c82-d6695453eecb 92b4a800-c7d2-4f97-94fc-85d30528c574 1 115060267 115060267 C T SNP NRAS NM_002524.3 human genbank 54_36p -1 reviewed missense c.38 p.G13D 1.000 HMMSmart_SM00173,HMMSmart_SM00174,HMMSmart_SM00175,HMMPfam_Ras,superfamily_P-loop containing nucleoside triphosphate hydrolases HMMSmart_SM00173,HMMSmart_SM00174,HMMSmart_SM00175,HMMPfam_Ras,superfamily_P-loop containing nucleoside triphosphate hydrolases - no_errors 74 0 0.00 153 31 16.85 26 5 16.13 +TSPAN2 0 genome.wustl.edu 37 1 115596001 115596001 + Missense_Mutation SNP G G A TCGA-AB-2808-03D-01W-0755-09 TCGA-AB-2808-11D-01W-0755-09 G G G A G G Verified Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq 1 dbGAP Illumina HiSeq 06038210-fb82-4e20-8c82-d6695453eecb 92b4a800-c7d2-4f97-94fc-85d30528c574 1 115397524 115397524 G A SNP TSPAN2 NM_005725.3 human genbank 54_36p -1 reviewed missense c.599 p.T200M 1.000 HMMPfam_Tetraspannin superfamily_Tetraspanin,HMMPfam_Tetraspannin,PatternScan_TM4_1 - no_errors 63 4 5.97 215 120 35.61 21 2 8.70 +CTNNA2 0 genome.wustl.edu 37 2 80085262 80085262 + Missense_Mutation SNP C C T TCGA-AB-2808-03D-01W-0755-09 TCGA-AB-2808-11D-01W-0755-09 C C C T C C Verified Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq 1 dbGAP Illumina HiSeq 06038210-fb82-4e20-8c82-d6695453eecb 92b4a800-c7d2-4f97-94fc-85d30528c574 2 79938770 79938770 C T SNP CTNNA2 NM_004389.2 human genbank 54_36p +1 validated missense c.422 p.A141V 0.999 HMMPfam_Vinculin,superfamily_alpha-catenin/vinculin PatternScan_VINCULIN_1,HMMPfam_Vinculin,superfamily_alpha-catenin/vinculin - no_errors 41 3 6.82 44 51 53.68 NA NA NA +FILIP1 0 genome.wustl.edu 37 6 76022883 76022883 + Nonsense_Mutation SNP G G A TCGA-AB-2808-03D-01W-0755-09 TCGA-AB-2808-11D-01W-0755-09 G G G A G G Verified Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq 1 dbGAP Illumina HiSeq 06038210-fb82-4e20-8c82-d6695453eecb 92b4a800-c7d2-4f97-94fc-85d30528c574 6 76079603 76079603 G A SNP FILIP1 NM_015687.2 human genbank 54_36p -1 validated nonsense c.2665 p.R889* 0.294 NULL HMMPfam_CortBP2 - no_errors 106 7 6.19 139 124 47.15 NA NA NA +SOGA3 0 genome.wustl.edu 37 6 127796938 127796938 + Missense_Mutation SNP G G T TCGA-AB-2808-03D-01W-0755-09 TCGA-AB-2808-11D-01W-0755-09 G G G T G G Verified Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq 1 dbGAP Illumina HiSeq 06038210-fb82-4e20-8c82-d6695453eecb 92b4a800-c7d2-4f97-94fc-85d30528c574 6 127838631 127838631 G T SNP C6orf174 NM_001012279.1 human genbank 54_36p -1 validated missense c.2233 p.R745S 1.000 NULL NULL - no_errors 10 0 0.00 15 16 51.61 NA NA NA +CSMD3 0 genome.wustl.edu 37 8 113651047 113651047 + Missense_Mutation SNP C C T TCGA-AB-2808-03D-01W-0755-09 TCGA-AB-2808-11D-01W-0755-09 C C C T C C Verified Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq 1 dbGAP Illumina HiSeq 06038210-fb82-4e20-8c82-d6695453eecb 92b4a800-c7d2-4f97-94fc-85d30528c574 8 113720223 113720223 C T SNP CSMD3 NM_198123.2 human genbank 54_36p -1 validated missense c.3404 p.R1135H 1.000 HMMPfam_CUB,HMMSmart_SM00042,superfamily_Spermadhesin CUB domain HMMPfam_Sushi,HMMSmart_SM00032,HMMPfam_CUB,HMMSmart_SM00042,superfamily_Spermadhesin CUB domain,PatternScan_GLYCOSYL_HYDROL_F10,superfamily_Complement control module/SCR domain - no_errors 74 4 5.13 95 51 34.23 NA NA NA +LOC121296 0 genome.wustl.edu 37 12 127349726 127349726 + RNA SNP G G A TCGA-AB-2808-03D-01W-0755-09 TCGA-AB-2808-11D-01W-0755-09 G G G A G G Verified Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq 1 dbGAP Illumina HiSeq 06038210-fb82-4e20-8c82-d6695453eecb 92b4a800-c7d2-4f97-94fc-85d30528c574 12 125915679 125915679 G A SNP LOC121296 XR_016630.1 human genbank 54_36p +1 model rna NULL NULL 1.000 - - - no_errors 60 0 0.00 112 17 12.88 NA NA NA +LAMA3 0 genome.wustl.edu 37 18 21394427 21394427 + Missense_Mutation SNP T T C TCGA-AB-2808-03D-01W-0755-09 TCGA-AB-2808-11D-01W-0755-09 T T T C T T Verified Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq 1 dbGAP Illumina HiSeq 06038210-fb82-4e20-8c82-d6695453eecb 92b4a800-c7d2-4f97-94fc-85d30528c574 18 19648425 19648425 T C SNP LAMA3 NM_198129.3 human genbank 54_36p +1 reviewed missense c.1849 p.Y617H 0.977 HMMPfam_Laminin_EGF,HMMSmart_SM00180,PatternScan_EGF_LAM_1,superfamily_EGF/Laminin HMMPfam_Laminin_B,HMMSmart_SM00282,HMMPfam_Laminin_EGF,HMMSmart_SM00180,PatternScan_EGF_LAM_1,HMMSmart_SM00181,HMMPfam_Laminin_N,HMMSmart_SM00136,superfamily_Galactose-binding domain-like,superfamily_Concanavalin A-like lectins/glucanases,HMMPfam_Laminin_I,HMMPfam_Laminin_II,HMMPfam_Laminin_G_2,PatternScan_EGF_1,PatternScan_EGF_2,HMMSmart_SM00281,PatternScan_CHAPERONINS_CPN60,superfamily_EGF/Laminin - no_errors 53 3 5.36 101 96 48.24 NA NA NA +CEBPA 0 genome.wustl.edu 37 19 33792368 33792369 + In_Frame_Ins INS - - TCA TCGA-AB-2808-03D-01W-0755-09 TCGA-AB-2808-11D-01W-0755-09 - - - TCA - - Verified Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq 1 dbGAP Illumina HiSeq 06038210-fb82-4e20-8c82-d6695453eecb 92b4a800-c7d2-4f97-94fc-85d30528c574 19 38484208 38484209 - TCA INS CEBPA NM_004364.3 human genbank 54_36p -1 reviewed in_frame_ins c.953_952 p.318in_frame_insM 0.992:0.993 HMMSmart_BRLZ,HMMPfam_bZIP_2 HMMSmart_BRLZ,PatternScan_BZIP_BASIC,HMMPfam_bZIP_2 - no_errors 1 0 0.00 16 12 42.86 73 34 31.78 +DNMT3A 0 genome.wustl.edu 37 2 25457242 25457242 + Missense_Mutation SNP C C T TCGA-AB-2809-03D-01W-0755-09 TCGA-AB-2809-11D-01W-0755-09 C C C T C C Verified Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq 1 dbGAP Illumina HiSeq d86f567d-84f8-4a95-af1d-5a26ada92830 158c65f7-cfad-4a5f-a81b-9d869cd45ac3 2 25310746 25310746 C T SNP DNMT3A NM_022552.3 human genbank 54_36p -1 reviewed missense c.2645 p.R882H 1.000 superfamily_S-adenosyl-L-methionine-dependent methyltransferases HMMPfam_PWWP,HMMSmart_SM00293,HMMPfam_DNA_methylase,superfamily_FYVE/PHD zinc finger,PatternScan_C5_MTASE_1,superfamily_S-adenosyl-L-methionine-dependent methyltransferases,superfamily_Tudor/PWWP/MBT - no_errors 906 223 19.70 65 41 38.32 NA NA NA +STEAP2 0 genome.wustl.edu 37 7 89856315 89856315 + Nonsense_Mutation SNP C C T TCGA-AB-2809-03D-01W-0755-09 TCGA-AB-2809-11D-01W-0755-09 C C C T C C Verified Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq 1 dbGAP Illumina HiSeq d86f567d-84f8-4a95-af1d-5a26ada92830 158c65f7-cfad-4a5f-a81b-9d869cd45ac3 7 89694251 89694251 C T SNP STEAP2 NM_001040665.1 human genbank 54_36p +1 reviewed nonsense c.523 p.R175* 0.992 HMMPfam_F420_oxidored,superfamily_NAD(P)-binding Rossmann-fold domains HMMPfam_F420_oxidored,HMMPfam_Ferric_reduct,superfamily_NAD(P)-binding Rossmann-fold domains - no_errors 135 5 3.55 126 49 27.84 NA NA NA +NIN 0 genome.wustl.edu 37 14 51224226 51224226 + Silent SNP T T C TCGA-AB-2809-03D-01W-0755-09 TCGA-AB-2809-11D-01W-0755-09 T T T C T T Verified Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq 1 dbGAP Illumina HiSeq d86f567d-84f8-4a95-af1d-5a26ada92830 158c65f7-cfad-4a5f-a81b-9d869cd45ac3 14 50293976 50293976 T C SNP NIN NM_020921.3 human genbank 54_36p -1 reviewed silent c.3522 p.E1174 0.902 NULL HMMPfam_efhand,superfamily_EF-hand - no_errors 202 16 7.34 124 66 34.55 NA NA NA +NAPSA 0 genome.wustl.edu 37 19 50862276 50862276 + Missense_Mutation SNP C C T TCGA-AB-2809-03D-01W-0755-09 TCGA-AB-2809-11D-01W-0755-09 C C C T C C Verified Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq 1 dbGAP Illumina HiSeq d86f567d-84f8-4a95-af1d-5a26ada92830 158c65f7-cfad-4a5f-a81b-9d869cd45ac3 19 55554088 55554088 C T SNP NAPSA NM_004851.1 human genbank 54_36p -1 reviewed missense c.1027 p.V343I 1.000 HMMPfam_Asp,superfamily_Pept_Aspartic HMMPfam_Asp,PatternScan_ASP_PROTEASE,superfamily_Pept_Aspartic - no_errors 2523 74 2.85 73 30 29.13 NA NA NA +NPM1 0 genome.wustl.edu 37 5 170837543 170837544 + Frame_Shift_Ins INS - - TCTG TCGA-AB-2809-03D-01W-0755-09 TCGA-AB-2809-11D-01W-0755-09 - - - TCTG - - Verified Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq 1 dbGAP Illumina HiSeq d86f567d-84f8-4a95-af1d-5a26ada92830 158c65f7-cfad-4a5f-a81b-9d869cd45ac3 5 170770148 170770149 - TCTG INS NPM1 NM_002520.1 human genbank 54_36p +1 validated frame_shift_ins c.859_860 p.W288fs 1.000:1.000 NULL HMMPfam_Nucleoplasmin,superfamily_Nucleoplasmin-like core domain - no_errors NA NA NA NA NA NA NA NA NA +DMD 0 genome.wustl.edu 37 X 31854905 31854905 + Missense_Mutation SNP G G A TCGA-AB-2810-03B-01W-0728-08 TCGA-AB-2810-11B-01W-0728-08 G G G A G G Verified Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq 1 dbGAP Illumina HiSeq 0a3cc109-86cf-44a8-abf6-2c244c26656c 933b44ef-cb71-487d-8354-af1e55554415 X 31764826 31764826 G A SNP DMD NM_004006.2 human genbank 54_36p -1 reviewed missense c.7130 p.P2377L 1.000 superfamily_Spectrin repeat HMMPfam_ZZ,HMMSmart_SM00291,PatternScan_ZF_ZZ_1,HMMPfam_WW,HMMSmart_SM00456,PatternScan_WW_DOMAIN_1,superfamily_WW domain,PatternScan_ACTININ_1,PatternScan_ACTININ_2,HMMPfam_CH,HMMSmart_SM00033,HMMPfam_Spectrin,superfamily_Prefoldin,superfamily_t-snare proteins,HMMPfam_efhand_1,HMMPfam_efhand_2,superfamily_Calponin-homology domain CH-domain,HMMSmart_SM00150,superfamily_Spectrin repeat,superfamily_EF-hand - no_errors 112 9 7.38 209 161 42.93 NA NA NA +GPR88 0 genome.wustl.edu 37 1 101004927 101004927 + Silent SNP C C A TCGA-AB-2810-03B-01W-0728-08 TCGA-AB-2810-11B-01W-0728-08 C C C A C C Verified Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq 1 dbGAP Illumina HiSeq 0a3cc109-86cf-44a8-abf6-2c244c26656c 933b44ef-cb71-487d-8354-af1e55554415 1 100777515 100777515 C A SNP GPR88 NM_022049.2 human genbank 54_36p +1 validated silent c.405 p.A135 0.994 HMMPfam_7tm_1,superfamily_SSF81321 HMMPfam_7tm_1,PatternScan_G_PROTEIN_RECEP_F1_1,superfamily_SSF81321 - no_errors 15 1 6.25 18 21 52.50 NA NA NA +DCAF6 0 genome.wustl.edu 37 1 167960544 167960544 + Missense_Mutation SNP T T C TCGA-AB-2810-03B-01W-0728-08 TCGA-AB-2810-11B-01W-0728-08 T T T C T T Verified Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq 1 dbGAP Illumina HiSeq 0a3cc109-86cf-44a8-abf6-2c244c26656c 933b44ef-cb71-487d-8354-af1e55554415 1 166227168 166227168 T C SNP IQWD1 NM_018442.1 human genbank 54_36p +1 validated missense c.655 p.Y219H 1.000 HMMSmart_WD40,superfamily_WD40_like,HMMPfam_WD40 HMMSmart_IQ,HMMSmart_WD40,superfamily_WD40_like,HMMPfam_WD40 - no_errors 68 17 20.00 122 116 48.33 8 10 55.56 +CELSR3 0 genome.wustl.edu 37 3 48699110 48699110 + Missense_Mutation SNP T T C TCGA-AB-2810-03B-01W-0728-08 TCGA-AB-2810-11B-01W-0728-08 T T T C T T Verified Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq 1 dbGAP Illumina HiSeq 0a3cc109-86cf-44a8-abf6-2c244c26656c 933b44ef-cb71-487d-8354-af1e55554415 3 48674114 48674114 T C SNP CELSR3 NM_001407.2 human genbank 54_36p -1 reviewed missense c.958 p.N320D 1.000 NULL PatternScan_ASX_HYDROXYL,HMMPfam_GPS,HMMSmart_SM00303,HMMPfam_7tm_2,HMMSmart_SM00282,HMMPfam_HRM,HMMSmart_SM00008,HMMSmart_SM00179,HMMPfam_Laminin_EGF,HMMSmart_SM00180,PatternScan_EGF_LAM_1,HMMPfam_Cadherin,HMMSmart_SM00112,PatternScan_CADHERIN_1,HMMPfam_EGF,HMMSmart_SM00181,superfamily_Concanavalin A-like lectins/glucanases,HMMPfam_Laminin_G_2,PatternScan_EGF_1,PatternScan_EGF_2,superfamily_Cadherin-like,PatternScan_G_PROTEIN_RECEP_F2_2,superfamily_EGF/Laminin - no_errors 78 6 7.14 30 34 53.12 NA NA NA +CADPS 0 genome.wustl.edu 37 3 62518627 62518627 + Missense_Mutation SNP C C T TCGA-AB-2810-03B-01W-0728-08 TCGA-AB-2810-11B-01W-0728-08 C C C T C C Verified Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq 1 dbGAP Illumina HiSeq 0a3cc109-86cf-44a8-abf6-2c244c26656c 933b44ef-cb71-487d-8354-af1e55554415 3 62493667 62493667 C T SNP CADPS NM_003716.3 human genbank 54_36p -1 reviewed missense c.2210 p.R737Q 1.000 NULL HMMPfam_C2,HMMPfam_PH,HMMSmart_SM00233,HMMPfam_DUF1041,superfamily_PH domain-like - no_errors 238 12 4.80 135 111 44.40 NA NA NA +CMYA5 0 genome.wustl.edu 37 5 79027652 79027652 + Missense_Mutation SNP G G A TCGA-AB-2810-03B-01W-0728-08 TCGA-AB-2810-11B-01W-0728-08 G G G A G G Verified Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq 1 dbGAP Illumina HiSeq 0a3cc109-86cf-44a8-abf6-2c244c26656c 933b44ef-cb71-487d-8354-af1e55554415 5 79063408 79063408 G A SNP CMYA5 NM_153610.3 human genbank 54_36p +1 validated missense c.3064 p.E1022K 0.262 NULL HMMPfam_SPRY,HMMPfam_fn3,HMMSmart_FN3,superfamily_FN_III-like - no_errors 188 14 6.93 203 169 44.83 NA NA NA +FCHSD1 0 genome.wustl.edu 37 5 141029103 141029103 + Silent SNP C C T TCGA-AB-2810-03B-01W-0728-08 TCGA-AB-2810-11B-01W-0728-08 C C C T C C Verified Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq 1 dbGAP Illumina HiSeq 0a3cc109-86cf-44a8-abf6-2c244c26656c 933b44ef-cb71-487d-8354-af1e55554415 5 141009287 141009287 C T SNP FCHSD1 NM_033449.1 human genbank 54_36p -1 provisional silent c.234 p.R78 0.999 HMMPfam_FCH,HMMSmart_SM00055 HMMPfam_FCH,HMMSmart_SM00055,HMMPfam_SH3_1,HMMSmart_SM00326,superfamily_SH3-domain,HMMPfam_SH3_2 - no_errors 195 21 9.72 51 34 39.53 0 0 0.00 +LOC442255 0 genome.wustl.edu 37 6 121975844 121975844 + RNA SNP C C T TCGA-AB-2810-03B-01W-0728-08 TCGA-AB-2810-11B-01W-0728-08 C C C T C C Verified Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq 1 dbGAP Illumina HiSeq 0a3cc109-86cf-44a8-abf6-2c244c26656c 933b44ef-cb71-487d-8354-af1e55554415 6 122017543 122017543 C T SNP LOC442255 XR_016618.2 human genbank 54_36p +1 model rna NULL NULL 0.047 - - - pseudogene 215 23 9.62 189 157 45.24 35 0 0.00 +SMOC2 0 genome.wustl.edu 37 6 169008890 169008890 + Missense_Mutation SNP G G A TCGA-AB-2810-03B-01W-0728-08 TCGA-AB-2810-11B-01W-0728-08 G G G A G G Verified Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq 1 dbGAP Illumina HiSeq 0a3cc109-86cf-44a8-abf6-2c244c26656c 933b44ef-cb71-487d-8354-af1e55554415 6 168750815 168750815 G A SNP SMOC2 NM_022138.1 human genbank 54_36p +1 provisional missense c.911 p.R304Q 0.973 NULL HMMPfam_Thyroglobulin_1,HMMSmart_TY,PatternScan_THYROGLOBULIN_1_1,superfamily_Thyroglobulin_1,HMMSmart_EFh,HMMPfam_Kazal_1,HMMSmart_KAZAL,PatternScan_EF_HAND_1,HMMPfam_SPARC_Ca_bdg,superfamily_SSF47473 - no_errors 70 9 11.39 28 29 50.88 NA NA NA +UNC5B 0 genome.wustl.edu 37 10 73051218 73051218 + Missense_Mutation SNP C C T TCGA-AB-2810-03B-01W-0728-08 TCGA-AB-2810-11B-01W-0728-08 C C C T C C Verified Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq 1 dbGAP Illumina HiSeq 0a3cc109-86cf-44a8-abf6-2c244c26656c 933b44ef-cb71-487d-8354-af1e55554415 10 72721224 72721224 C T SNP UNC5B NM_170744.3 human genbank 54_36p +1 validated missense c.1324 p.P442S 1.000 NULL HMMPfam_Death,HMMSmart_SM00005,HMMPfam_TSP_1,HMMSmart_SM00209,superfamily_TSP-1 type 1 repeat,HMMPfam_ZU5,HMMSmart_SM00218,HMMSmart_SM00408,HMMSmart_SM00409,superfamily_DEATH domain,HMMPfam_I-set,superfamily_Immunoglobulin - no_errors 171 14 7.57 48 32 39.02 NA NA NA +IDH2 0 genome.wustl.edu 37 15 90631934 90631934 + Missense_Mutation SNP C C T rs121913502 TCGA-AB-2810-03B-01W-0728-08 TCGA-AB-2810-11B-01W-0728-08 C C C T C C Verified Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq 1 dbGAP Illumina HiSeq 0a3cc109-86cf-44a8-abf6-2c244c26656c 933b44ef-cb71-487d-8354-af1e55554415 15 88432938 88432938 C T SNP IDH2 NM_002168.2 human genbank 54_36p -1 reviewed missense c.419 p.R140Q 1.000 HMMPfam_Iso_dh,superfamily_Isocitrate/Isopropylmalate dehydrogenase-like HMMPfam_Iso_dh,PatternScan_IDH_IMDH,superfamily_Isocitrate/Isopropylmalate dehydrogenase-like - no_errors 186 20 9.66 64 49 42.98 153 162 51.27 +TSHZ3 0 genome.wustl.edu 37 19 31769978 31769978 + Missense_Mutation SNP C C T TCGA-AB-2810-03B-01W-0728-08 TCGA-AB-2810-11B-01W-0728-08 C C C T C C Verified Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq 1 dbGAP Illumina HiSeq 0a3cc109-86cf-44a8-abf6-2c244c26656c 933b44ef-cb71-487d-8354-af1e55554415 19 36461818 36461818 C T SNP TSHZ3 NM_020856.2 human genbank 54_36p -1 validated missense c.721 p.D241N 1.000 NULL HMMPfam_Homeobox,HMMSmart_HOX,HMMPfam_zf-C2H2,PatternScan_ZINC_FINGER_C2H2_1,superfamily_Homeodomain_like,HMMSmart_ZnF_C2H2,PatternScan_HOMEOBOX_1 - no_errors 1001 126 11.14 164 146 46.79 NA NA NA +MEGF8 0 genome.wustl.edu 37 19 42838272 42838272 + Silent SNP G G A TCGA-AB-2810-03B-01W-0728-08 TCGA-AB-2810-11B-01W-0728-08 G G G A G G Verified Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq 1 dbGAP Illumina HiSeq 0a3cc109-86cf-44a8-abf6-2c244c26656c 933b44ef-cb71-487d-8354-af1e55554415 19 47530112 47530112 G A SNP MEGF8 NM_001410.2 human genbank 54_36p +1 validated silent c.465 p.P155 0.000 HMMSmart_EGF PatternScan_ASX_HYDROXYL,HMMPfam_CUB,HMMSmart_CUB,superfamily_CUB,HMMSmart_EGF_CA,HMMPfam_Laminin_EGF,HMMSmart_EGF_Lam,PatternScan_EGF_LAM_1,HMMPfam_PSI,HMMSmart_PSI,HMMSmart_EGF,HMMPfam_Kelch_1,superfamily_Gal_oxid_central,PatternScan_EGF_1,PatternScan_EGF_2,HMMPfam_EGF_CA,HMMPfam_EGF_2,PatternScan_EGF_CA,PatternScan_C_TYPE_LECTIN_1,superfamily_SSF57196 - no_errors 72 10 12.20 48 44 47.31 4 2 33.33 +SYNGR4 0 genome.wustl.edu 37 19 48878946 48878946 + Silent SNP C C T TCGA-AB-2810-03B-01W-0728-08 TCGA-AB-2810-11B-01W-0728-08 C C C T C C Verified Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq 1 dbGAP Illumina HiSeq 0a3cc109-86cf-44a8-abf6-2c244c26656c 933b44ef-cb71-487d-8354-af1e55554415 19 53570758 53570758 C T SNP SYNGR4 NM_012451.2 human genbank 54_36p +1 reviewed silent c.408 p.F136 0.848 HMMPfam_MARVEL HMMPfam_MARVEL - no_errors 591 62 9.47 49 41 45.05 0 1 100.00 +CLDN14 0 genome.wustl.edu 37 21 37833609 37833609 + Missense_Mutation SNP C C T TCGA-AB-2810-03B-01W-0728-08 TCGA-AB-2810-11B-01W-0728-08 C C C T C C Verified Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq 1 dbGAP Illumina HiSeq 0a3cc109-86cf-44a8-abf6-2c244c26656c 933b44ef-cb71-487d-8354-af1e55554415 21 36755479 36755479 C T SNP CLDN14 NM_012130.1 human genbank 54_36p -1 reviewed missense c.385 p.G129S 1.000 HMMPfam_PMP22_Claudin HMMPfam_PMP22_Claudin,PatternScan_CLAUDIN - no_errors 148 10 6.33 53 19 26.39 NA NA NA +NPM1 0 genome.wustl.edu 37 5 170837543 170837544 + Frame_Shift_Ins INS - - TCTG TCGA-AB-2810-03B-01W-0728-08 TCGA-AB-2810-11B-01W-0728-08 - - - TCTG - - Verified Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq 1 dbGAP Illumina HiSeq 0a3cc109-86cf-44a8-abf6-2c244c26656c 933b44ef-cb71-487d-8354-af1e55554415 5 170770148 170770149 - TCTG INS NPM1 NM_002520.1 human genbank 54_36p +1 validated frame_shift_ins c.859_860 p.W288fs 1.000:1.000 NULL HMMPfam_Nucleoplasmin,superfamily_Nucleoplasmin-like core domain - no_errors NA NA NA NA NA NA NA NA NA +SMC1A 0 genome.wustl.edu 37 X 53432579 53432579 + Missense_Mutation SNP C C T TCGA-AB-2811-03B-01W-0728-08 TCGA-AB-2811-11B-01W-0728-08 C C C T C C Verified Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq 1 dbGAP Illumina HiSeq 7e9b79b7-d6b7-4365-8597-dad296c4b3f5 9602849c-4204-47bd-9c80-7af80031f25c X 53449304 53449304 C T SNP SMC1A NM_006306.2 human genbank 54_36p -1 reviewed missense c.1757 p.R586Q 1.000 HMMPfam_SMC_N,HMMPfam_SMC_hinge,superfamily_SMC_hinge,superfamily_SSF52540 HMMPfam_SMC_N,HMMPfam_SMC_hinge,superfamily_SMC_hinge,superfamily_SSF52540 - no_errors 22 1 4.35 8 97 92.38 5 12 70.59 +DNMT3A 0 genome.wustl.edu 37 2 25457242 25457242 + Missense_Mutation SNP C C T TCGA-AB-2811-03B-01W-0728-08 TCGA-AB-2811-11B-01W-0728-08 C C C T C C Verified Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq 1 dbGAP Illumina HiSeq 7e9b79b7-d6b7-4365-8597-dad296c4b3f5 9602849c-4204-47bd-9c80-7af80031f25c 2 25310746 25310746 C T SNP DNMT3A NM_022552.3 human genbank 54_36p -1 reviewed missense c.2645 p.R882H 1.000 superfamily_S-adenosyl-L-methionine-dependent methyltransferases HMMPfam_PWWP,HMMSmart_SM00293,HMMPfam_DNA_methylase,superfamily_FYVE/PHD zinc finger,PatternScan_C5_MTASE_1,superfamily_S-adenosyl-L-methionine-dependent methyltransferases,superfamily_Tudor/PWWP/MBT - no_errors 73 6 7.50 91 84 48.00 23 26 53.06 +TEKT4 0 genome.wustl.edu 37 2 95542461 95542461 + Missense_Mutation SNP A A G TCGA-AB-2811-03B-01W-0728-08 TCGA-AB-2811-11B-01W-0728-08 A A A G A A Verified Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq 1 dbGAP Illumina HiSeq 7e9b79b7-d6b7-4365-8597-dad296c4b3f5 9602849c-4204-47bd-9c80-7af80031f25c 2 94906188 94906188 A G SNP TEKT4 NM_144705.2 human genbank 54_36p +1 provisional missense c.1255 p.M419V 1.000 HMMPfam_Tektin HMMPfam_Tektin - no_errors 41 1 2.38 60 53 46.90 3 0 0.00 +OR2Y1 0 genome.wustl.edu 37 5 180167000 180167000 + Nonsense_Mutation SNP C C T TCGA-AB-2811-03B-01W-0728-08 TCGA-AB-2811-11B-01W-0728-08 C C C T C C Verified Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq 1 dbGAP Illumina HiSeq 7e9b79b7-d6b7-4365-8597-dad296c4b3f5 9602849c-4204-47bd-9c80-7af80031f25c 5 180099606 180099606 C T SNP OR2Y1 NM_001001657.1 human genbank 54_36p -1 provisional nonsense c.59 p.W20* 0.001 superfamily_SSF81321 HMMPfam_7tm_1,PatternScan_G_PROTEIN_RECEP_F1_1,superfamily_SSF81321 - no_errors 183 23 11.17 307 257 45.57 NA NA NA +DOCK4 0 genome.wustl.edu 37 7 111381644 111381644 + Missense_Mutation SNP G G T TCGA-AB-2811-03B-01W-0728-08 TCGA-AB-2811-11B-01W-0728-08 G G G T G G Verified Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq 1 dbGAP Illumina HiSeq 7e9b79b7-d6b7-4365-8597-dad296c4b3f5 9602849c-4204-47bd-9c80-7af80031f25c 7 111168880 111168880 G T SNP DOCK4 NM_014705.3 human genbank 54_36p -1 reviewed missense c.4844 p.A1615E 0.994 NULL HMMSmart_SM00326,superfamily_SH3-domain,HMMPfam_SH3_2 - no_errors 50 1 1.96 126 111 46.84 NA NA NA +PTCH1 0 genome.wustl.edu 37 9 98220525 98220525 + Missense_Mutation SNP C C T TCGA-AB-2811-03B-01W-0728-08 TCGA-AB-2811-11B-01W-0728-08 C C C T C C Verified Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq 1 dbGAP Illumina HiSeq 7e9b79b7-d6b7-4365-8597-dad296c4b3f5 9602849c-4204-47bd-9c80-7af80031f25c 9 97260346 97260346 C T SNP PTCH1 NM_000264.3 human genbank 54_36p -1 reviewed missense c.2938 p.G980S 1.000 HMMPfam_Patched HMMPfam_Patched,superfamily_SSF82866 - no_errors 172 23 11.56 132 107 44.77 1 0 0.00 +CSRNP2 0 genome.wustl.edu 37 12 51457701 51457701 + Missense_Mutation SNP T T C TCGA-AB-2811-03B-01W-0728-08 TCGA-AB-2811-11B-01W-0728-08 T T T C T T Verified Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq 1 dbGAP Illumina HiSeq 7e9b79b7-d6b7-4365-8597-dad296c4b3f5 9602849c-4204-47bd-9c80-7af80031f25c 12 49743968 49743968 T C SNP CSRNP2 NM_030809.1 human genbank 54_36p -1 provisional missense c.1460 p.E487G 0.750 NULL NULL - no_errors 73 3 3.95 161 132 45.05 8 3 27.27 +FLT3 0 genome.wustl.edu 37 13 28592642 28592642 + Missense_Mutation SNP C C A rs121913488 TCGA-AB-2811-03B-01W-0728-08 TCGA-AB-2811-11B-01W-0728-08 C C C A C C Verified Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq 1 dbGAP Illumina HiSeq 7e9b79b7-d6b7-4365-8597-dad296c4b3f5 9602849c-4204-47bd-9c80-7af80031f25c 13 27490642 27490642 C A SNP FLT3 NM_004119.2 human genbank 54_36p -1 reviewed missense c.2503 p.D835Y 1.000 HMMPfam_Pkinase_Tyr,HMMSmart_TyrKc,superfamily_Kinase_like HMMPfam_Pkinase_Tyr,HMMSmart_TyrKc,PatternScan_RECEPTOR_TYR_KIN_III,PatternScan_PROTEIN_KINASE_TYR,superfamily_Kinase_like,HMMPfam_ig,PatternScan_PROTEIN_KINASE_ATP,superfamily_SSF48726 - no_errors 69 2 2.82 118 114 49.14 235 117 33.24 +NPM1 0 genome.wustl.edu 37 5 170837547 170837548 + Frame_Shift_Ins INS - - TCTG TCGA-AB-2811-03B-01W-0728-08 TCGA-AB-2811-11B-01W-0728-08 - - - TCTG - - Verified Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq 1 dbGAP Illumina HiSeq 7e9b79b7-d6b7-4365-8597-dad296c4b3f5 9602849c-4204-47bd-9c80-7af80031f25c 5 170770152 170770153 - TCTG INS NPM1 NM_002520.1 human genbank 54_36p +1 validated frame_shift_ins c.863_864 p.W288fs 1.000:1.000 NULL HMMPfam_Nucleoplasmin,superfamily_Nucleoplasmin-like core domain - no_errors NA NA NA NA NA NA NA NA NA +CFLAR 0 genome.wustl.edu 37 2 201994828 201994828 + Silent SNP G G A TCGA-AB-2812-03B-01W-0728-08 TCGA-AB-2812-11B-01W-0728-08 G G G A G G Verified Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq 1 dbGAP Illumina HiSeq e899a08c-13e5-4d91-8493-a97be4a59463 88f03d43-a9a5-464e-90d5-59a3033e1e8c 2 201703073 201703073 G A SNP CFLAR NM_003879.1 human genbank 54_36p +1 validated silent c.240 p.E80 0.938 NULL HMMPfam_DED,HMMSmart_SM00031,superfamily_DEATH domain,HMMPfam_Peptidase_C14,HMMSmart_SM00115,superfamily_Caspase-like - no_errors 51 3 5.56 98 73 42.44 62 74 54.41 +PPP1R3A 0 genome.wustl.edu 37 7 113519787 113519787 + Missense_Mutation SNP G G T TCGA-AB-2812-03B-01W-0728-08 TCGA-AB-2812-11B-01W-0728-08 G G G T G G Verified Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq 1 dbGAP Illumina HiSeq e899a08c-13e5-4d91-8493-a97be4a59463 88f03d43-a9a5-464e-90d5-59a3033e1e8c 7 113307023 113307023 G T SNP PPP1R3A NM_002711.3 human genbank 54_36p -1 reviewed missense c.1360 p.P454T 0.001 NULL HMMPfam_CBM_21 - no_errors 59 4 6.35 123 134 51.74 NA NA NA +NHLRC2 0 genome.wustl.edu 37 10 115664656 115664656 + Silent SNP T T C TCGA-AB-2812-03B-01W-0728-08 TCGA-AB-2812-11B-01W-0728-08 T T T C T T Verified Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq 1 dbGAP Illumina HiSeq e899a08c-13e5-4d91-8493-a97be4a59463 88f03d43-a9a5-464e-90d5-59a3033e1e8c 10 115654646 115654646 T C SNP NHLRC2 NM_198514.2 human genbank 54_36p +1 provisional silent c.1785 p.P595 0.999 NULL HMMPfam_NHL,superfamily_Thioredoxin-like,superfamily_NHL repeat - no_errors 53 5 8.62 136 108 43.90 15 3 16.67 +CNTN5 0 genome.wustl.edu 37 11 100211915 100211915 + Missense_Mutation SNP A A C TCGA-AB-2812-03B-01W-0728-08 TCGA-AB-2812-11B-01W-0728-08 A A A C A A Verified Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq 1 dbGAP Illumina HiSeq e899a08c-13e5-4d91-8493-a97be4a59463 88f03d43-a9a5-464e-90d5-59a3033e1e8c 11 99717125 99717125 A C SNP CNTN5 NM_014361.2 human genbank 54_36p +1 reviewed missense c.3008 p.E1003A 1.000 HMMPfam_fn3,HMMSmart_SM00060,superfamily_Fibronectin type III HMMSmart_SM00408,HMMSmart_SM00409,HMMPfam_fn3,HMMSmart_SM00060,superfamily_Fibronectin type III,HMMPfam_I-set,HMMPfam_V-set,HMMPfam_ig,superfamily_Immunoglobulin - no_errors 88 5 5.38 211 151 41.14 NA NA NA +GXYLT1 0 genome.wustl.edu 37 12 42512850 42512850 + Silent SNP T T C TCGA-AB-2812-03B-01W-0728-08 TCGA-AB-2812-11B-01W-0728-08 T T T C T T Verified Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq 1 dbGAP Illumina HiSeq e899a08c-13e5-4d91-8493-a97be4a59463 88f03d43-a9a5-464e-90d5-59a3033e1e8c 12 40799117 40799117 T C SNP GLT8D3 NM_173601.1 human genbank 54_36p -1 validated silent c.438 p.Q146 0.647 HMMPfam_Glyco_transf_8,superfamily_Nucleotide-diphospho-sugar transferases HMMPfam_Glyco_transf_8,superfamily_Nucleotide-diphospho-sugar transferases - no_errors 68 1 1.45 174 106 37.32 10 6 37.50 +FKBP11 0 genome.wustl.edu 37 12 49315953 49315953 + Silent SNP C C A TCGA-AB-2812-03B-01W-0728-08 TCGA-AB-2812-11B-01W-0728-08 C C C A C C Verified Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq 1 dbGAP Illumina HiSeq e899a08c-13e5-4d91-8493-a97be4a59463 88f03d43-a9a5-464e-90d5-59a3033e1e8c 12 47602220 47602220 C A SNP FKBP11 NM_016594.1 human genbank 54_36p -1 validated silent c.420 p.L140 0.997 HMMPfam_FKBP_C,superfamily_SSF54534 HMMPfam_FKBP_C,superfamily_SSF54534 - no_errors 79 1 1.23 166 140 45.45 22 10 31.25 +PARP4 0 genome.wustl.edu 37 13 25058867 25058867 + Missense_Mutation SNP C C T TCGA-AB-2812-03B-01W-0728-08 TCGA-AB-2812-11B-01W-0728-08 C C C T C C Verified Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq 1 dbGAP Illumina HiSeq e899a08c-13e5-4d91-8493-a97be4a59463 88f03d43-a9a5-464e-90d5-59a3033e1e8c 13 23956867 23956867 C T SNP PARP4 NM_006437.3 human genbank 54_36p -1 reviewed missense c.1372 p.V458I 0.975 HMMPfam_PARP,superfamily_SSF56399 HMMPfam_BRCT,HMMSmart_BRCT,superfamily_BRCT,HMMPfam_VWA,HMMSmart_VWA,superfamily_PARP_reg,HMMSmart_VIT,HMMPfam_PARP,HMMPfam_VIT,superfamily_SSF53300,superfamily_SSF56399 - no_errors 52 0 0.00 159 30 15.62 103 0 0.00 +SLC12A3 0 genome.wustl.edu 37 16 56926951 56926951 + Missense_Mutation SNP C C T TCGA-AB-2812-03B-01W-0728-08 TCGA-AB-2812-11B-01W-0728-08 C C C T C C Verified Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq 1 dbGAP Illumina HiSeq e899a08c-13e5-4d91-8493-a97be4a59463 88f03d43-a9a5-464e-90d5-59a3033e1e8c 16 55484452 55484452 C T SNP SLC12A3 NM_000339.2 human genbank 54_36p +1 reviewed missense c.2533 p.L845F 0.999 NULL HMMPfam_AA_permease,HMMPfam_AA_permease_N - no_errors 30 0 0.00 112 103 47.47 NA NA NA +TNNC2 0 genome.wustl.edu 37 20 44453167 44453167 + Missense_Mutation SNP G G T TCGA-AB-2812-03B-01W-0728-08 TCGA-AB-2812-11B-01W-0728-08 G G G T G G Verified Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq 1 dbGAP Illumina HiSeq e899a08c-13e5-4d91-8493-a97be4a59463 88f03d43-a9a5-464e-90d5-59a3033e1e8c 20 43886574 43886574 G T SNP TNNC2 NM_003279.2 human genbank 54_36p -1 reviewed missense c.166 p.L56M 1.000 HMMSmart_SM00054,HMMPfam_efhand,superfamily_EF-hand HMMSmart_SM00054,PatternScan_EF_HAND_1,HMMPfam_efhand,superfamily_EF-hand - no_errors 50 6 10.71 120 107 46.93 1 0 0.00 +NPM1 0 genome.wustl.edu 37 5 170837545 170837546 + Frame_Shift_Ins INS - - TGCA TCGA-AB-2812-03B-01W-0728-08 TCGA-AB-2812-11B-01W-0728-08 - - - TGCA - - Verified Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq 1 dbGAP Illumina HiSeq e899a08c-13e5-4d91-8493-a97be4a59463 88f03d43-a9a5-464e-90d5-59a3033e1e8c 5 170770150 170770151 - TGCA INS NPM1 NM_002520.1 human genbank 54_36p +1 validated frame_shift_ins c.861_862 p.W287fs 1.000:1.000 NULL HMMPfam_Nucleoplasmin,superfamily_Nucleoplasmin-like core domain - no_errors NA NA NA NA NA NA NA NA NA +FLT3 0 genome.wustl.edu 37 13 28608256 28608257 + In_Frame_Ins INS - - TCATATTCATATTCTCTGAAATCAACGTAGAAGTACTCATTATCTGAGGAG TCGA-AB-2812-03B-01W-0728-08 TCGA-AB-2812-11B-01W-0728-08 - - - TCATATTCATATTCTCTGAAATCAACGTAGAAGTACTCATTATCTGAGGAG - - Verified Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq 1 dbGAP Illumina HiSeq e899a08c-13e5-4d91-8493-a97be4a59463 88f03d43-a9a5-464e-90d5-59a3033e1e8c 13 27506256 27506257 - TCATATTCATATTCTCTGAAATCAACGTAGAAGTACTCATTATCTGAGGAG INS FLT3 NM_004119.2 human genbank 54_36p -1 reviewed in_frame_ins c.1800_1799 p.601in_frame_insSSDNEYFYVDFREYEYD 0.998:1.000 superfamily_Kinase_like HMMPfam_Pkinase_Tyr,HMMSmart_TyrKc,PatternScan_RECEPTOR_TYR_KIN_III,PatternScan_PROTEIN_KINASE_TYR,superfamily_Kinase_like,HMMPfam_ig,PatternScan_PROTEIN_KINASE_ATP,superfamily_SSF48726 - no_errors NA NA NA NA NA NA NA NA NA +NKRF 0 genome.wustl.edu 37 X 118723959 118723959 + Missense_Mutation SNP G G A TCGA-AB-2813-03B-01W-0728-08 TCGA-AB-2813-11B-01W-0728-08 G G G A G G Verified Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq 1 dbGAP Illumina HiSeq 7e85a885-3db1-4382-a10d-7cdce016ddb4 fb24b4e8-ad6e-4397-97f4-1421fe8abb24 X 118607987 118607987 G A SNP NKRF NM_017544.2 human genbank 54_36p -1 validated missense c.1429 p.R477C 1.000 HMMSmart_SM00358,superfamily_dsRNA-binding domain-like HMMPfam_G-patch,HMMSmart_SM00443,HMMPfam_dsrm,HMMSmart_SM00358,HMMPfam_R3H,HMMSmart_SM00393,superfamily_dsRNA-binding domain-like,superfamily_R3H domain - no_errors 125 1 0.79 62 11 14.86 9 0 0.00 +OR13H1 0 genome.wustl.edu 37 X 130678091 130678091 + Missense_Mutation SNP T T C TCGA-AB-2813-03B-01W-0728-08 TCGA-AB-2813-11B-01W-0728-08 T T T C T T Verified Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq 1 dbGAP Illumina HiSeq 7e85a885-3db1-4382-a10d-7cdce016ddb4 fb24b4e8-ad6e-4397-97f4-1421fe8abb24 X 130505772 130505772 T C SNP OR13H1 NM_001004486.1 human genbank 54_36p +1 provisional missense c.44 p.I15T 0.890 superfamily_SSF81321 HMMPfam_7tm_1,PatternScan_G_PROTEIN_RECEP_F1_1,superfamily_SSF81321 - no_errors 427 14 3.16 38 219 82.95 NA NA NA +uc004ewl.1 0 genome.wustl.edu 37 X 131157387 131157387 + Missense_Mutation SNP G G C TCGA-AB-2813-03B-01W-0728-08 TCGA-AB-2813-11B-01W-0728-08 G G G C G G Verified Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq 1 dbGAP Illumina HiSeq 7e85a885-3db1-4382-a10d-7cdce016ddb4 fb24b4e8-ad6e-4397-97f4-1421fe8abb24 X 130985068 130985068 G C SNP uc004ewl.1 ENST00000370887 human ensembl 54_36p +1 known missense c.82 p.G28R 0.001 NULL HMMSmart_SM00219,HMMSmart_SM00220,superfamily_Protein kinase-like (PK-like),PatternScan_PROTEIN_KINASE_ATP,HMMPfam_Pkinase - no_start_codon 55 1 1.79 2 18 90.00 1 15 93.75 +GRIK3 0 genome.wustl.edu 37 1 37307519 37307519 + Missense_Mutation SNP G G A TCGA-AB-2813-03B-01W-0728-08 TCGA-AB-2813-11B-01W-0728-08 G G G A G G Verified Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq 1 dbGAP Illumina HiSeq 7e85a885-3db1-4382-a10d-7cdce016ddb4 fb24b4e8-ad6e-4397-97f4-1421fe8abb24 1 37080106 37080106 G A SNP GRIK3 NM_000831.3 human genbank 54_36p -1 reviewed missense c.1348 p.R450W 1.000 HMMSmart_PBPe,HMMPfam_Lig_chan-Glu_bd,superfamily_SSF53850 HMMPfam_Lig_chan,HMMSmart_PBPe,HMMPfam_ANF_receptor,HMMPfam_Lig_chan-Glu_bd,superfamily_SSF53822,superfamily_SSF53850,superfamily_SSF55620 - no_errors 470 5 1.04 109 48 30.19 NA NA NA +SPRR4 0 genome.wustl.edu 37 1 152944388 152944388 + Missense_Mutation SNP C C T TCGA-AB-2813-03B-01W-0728-08 TCGA-AB-2813-11B-01W-0728-08 C C C T C C Verified Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq 1 dbGAP Illumina HiSeq 7e85a885-3db1-4382-a10d-7cdce016ddb4 fb24b4e8-ad6e-4397-97f4-1421fe8abb24 1 151211012 151211012 C T SNP SPRR4 NM_173080.1 human genbank 54_36p +1 provisional missense c.22 p.R8W 0.928 HMMPfam_Cornifin HMMPfam_Cornifin - no_errors 1083 29 2.59 203 137 39.83 NA NA NA +ZNF518B 0 genome.wustl.edu 37 4 10445534 10445534 + Missense_Mutation SNP A A T TCGA-AB-2813-03B-01W-0728-08 TCGA-AB-2813-11B-01W-0728-08 A A A T A A Verified Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq 1 dbGAP Illumina HiSeq 7e85a885-3db1-4382-a10d-7cdce016ddb4 fb24b4e8-ad6e-4397-97f4-1421fe8abb24 4 10054632 10054632 A T SNP ZNF518B NM_053042.2 human genbank 54_36p -1 validated missense c.2419 p.L807I 0.001 NULL HMMPfam_zf-C2H2,PatternScan_ZINC_FINGER_C2H2_1,HMMSmart_ZnF_C2H2,superfamily_SSF57667 - no_errors 517 7 1.32 139 37 20.90 6 8 57.14 +BBS12 0 genome.wustl.edu 37 4 123664618 123664618 + Missense_Mutation SNP A A G TCGA-AB-2813-03B-01W-0728-08 TCGA-AB-2813-11B-01W-0728-08 A A A G A A Verified Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq 1 dbGAP Illumina HiSeq 7e85a885-3db1-4382-a10d-7cdce016ddb4 fb24b4e8-ad6e-4397-97f4-1421fe8abb24 4 123884068 123884068 A G SNP BBS12 NM_152618.2 human genbank 54_36p +1 validated missense c.1571 p.Y524C 0.790 HMMPfam_Cpn60_TCP1,superfamily_GroEL equatorial domain-like HMMPfam_Cpn60_TCP1,superfamily_GroEL equatorial domain-like,superfamily_GroEL apical domain-like - no_errors 237 3 1.23 152 58 27.10 0 2 100.00 +HLA-DRB1 0 genome.wustl.edu 37 6 32548544 32548544 + Missense_Mutation SNP T T G TCGA-AB-2813-03B-01W-0728-08 TCGA-AB-2813-11B-01W-0728-08 T T T G T T Verified Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq 1 dbGAP Illumina HiSeq 7e85a885-3db1-4382-a10d-7cdce016ddb4 fb24b4e8-ad6e-4397-97f4-1421fe8abb24 6 32656522 32656522 T G SNP HLA-DRB1 NM_002124.2 human genbank 54_36p -1 reviewed missense c.742 p.I248L 0.956 NULL HMMPfam_MHC_II_beta,PatternScan_IG_MHC,HMMPfam_C1-set,HMMSmart_SM00407,superfamily_MHC antigen-recognition domain,superfamily_Immunoglobulin - no_errors 245 43 14.93 149 24 13.71 717 1 0.14 +DLD 0 genome.wustl.edu 37 7 107556026 107556026 + Missense_Mutation SNP G G A TCGA-AB-2813-03B-01W-0728-08 TCGA-AB-2813-11B-01W-0728-08 G G G A G G Verified Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq 1 dbGAP Illumina HiSeq 7e85a885-3db1-4382-a10d-7cdce016ddb4 fb24b4e8-ad6e-4397-97f4-1421fe8abb24 7 107343262 107343262 G A SNP DLD NM_000108.3 human genbank 54_36p +1 reviewed missense c.760 p.D254N 1.000 HMMPfam_Pyr_redox,HMMPfam_Pyr_redox_2,superfamily_SSF51905 HMMPfam_Pyr_redox,HMMPfam_Pyr_redox_dim,PatternScan_PYRIDINE_REDOX_1,HMMPfam_Pyr_redox_2,superfamily_FAD/NAD-linked_reductase_dimer,superfamily_SSF51905 - no_errors 220 3 1.33 118 71 37.17 48 36 42.35 +ECM2 0 genome.wustl.edu 37 9 95279998 95279998 + Missense_Mutation SNP C C T TCGA-AB-2813-03B-01W-0728-08 TCGA-AB-2813-11B-01W-0728-08 C C C T C C Verified Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq 1 dbGAP Illumina HiSeq 7e85a885-3db1-4382-a10d-7cdce016ddb4 fb24b4e8-ad6e-4397-97f4-1421fe8abb24 9 94319819 94319819 C T SNP ECM2 NM_001393.2 human genbank 54_36p -1 reviewed missense c.452 p.G151E 1.000 HMMPfam_VWC,HMMSmart_VWC,PatternScan_VWFC_1 HMMPfam_VWC,HMMSmart_VWC,PatternScan_VWFC_1,HMMPfam_LRR_1,superfamily_SSF52058 - no_errors 525 14 2.58 128 101 43.53 2 2 50.00 +CACNA1B 0 genome.wustl.edu 37 9 141016357 141016357 + Missense_Mutation SNP G G A TCGA-AB-2813-03B-01W-0728-08 TCGA-AB-2813-11B-01W-0728-08 G G G A G G Verified Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq 1 dbGAP Illumina HiSeq 7e85a885-3db1-4382-a10d-7cdce016ddb4 fb24b4e8-ad6e-4397-97f4-1421fe8abb24 9 140136178 140136178 G A SNP CACNA1B NM_000718.2 human genbank 54_36p +1 validated missense c.6926 p.R2309H 0.988 NULL HMMPfam_Ion_trans,HMMPfam_Ca_chan_IQ,superfamily_Voltage-gated potassium channels - no_errors 77 4 4.82 31 24 43.64 NA NA NA +FAT3 0 genome.wustl.edu 37 11 92532290 92532290 + Silent SNP G G T TCGA-AB-2813-03B-01W-0728-08 TCGA-AB-2813-11B-01W-0728-08 G G G T G G Verified Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq 1 dbGAP Illumina HiSeq 7e85a885-3db1-4382-a10d-7cdce016ddb4 fb24b4e8-ad6e-4397-97f4-1421fe8abb24 11 92171938 92171938 G T SNP FAT3 NM_001008781.2 human genbank 54_36p +1 validated silent c.6111 p.T2037 0.992 HMMPfam_Cadherin,HMMSmart_SM00112,superfamily_Concanavalin A-like lectins/glucanases,superfamily_Cadherin-like PatternScan_ASX_HYDROXYL,HMMSmart_SM00282,HMMSmart_SM00179,HMMPfam_Cadherin,HMMSmart_SM00112,PatternScan_CADHERIN_1,HMMPfam_EGF,HMMSmart_SM00181,superfamily_Concanavalin A-like lectins/glucanases,HMMPfam_Laminin_G_2,PatternScan_EGF_1,PatternScan_EGF_2,superfamily_Cadherin-like,PatternScan_EGF_CA,superfamily_EGF/Laminin - no_errors 333 1 0.30 67 46 40.00 NA NA NA +GNPTAB 0 genome.wustl.edu 37 12 102179965 102179965 + Silent SNP G G A TCGA-AB-2813-03B-01W-0728-08 TCGA-AB-2813-11B-01W-0728-08 G G G A G G Verified Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq 1 dbGAP Illumina HiSeq 7e85a885-3db1-4382-a10d-7cdce016ddb4 fb24b4e8-ad6e-4397-97f4-1421fe8abb24 12 100704096 100704096 G A SNP GNPTAB NM_024312.3 human genbank 54_36p -1 validated silent c.396 p.H132 1.000 NULL HMMPfam_Notch,HMMSmart_SM00004,superfamily_Notch domain,HMMPfam_DMAP_binding,PatternScan_EF_HAND_1 - no_errors 791 9 1.12 194 130 39.88 56 38 40.43 +OR11H12 0 genome.wustl.edu 37 14 19377885 19377885 + Missense_Mutation SNP G G A TCGA-AB-2813-03B-01W-0728-08 TCGA-AB-2813-11B-01W-0728-08 G G G A G G Verified Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq 1 dbGAP Illumina HiSeq 7e85a885-3db1-4382-a10d-7cdce016ddb4 fb24b4e8-ad6e-4397-97f4-1421fe8abb24 14 18447885 18447885 G A SNP OR11H12 NM_001013354.1 human genbank 54_36p +1 provisional missense c.292 p.V98I 0.016 HMMPfam_7tm_1,superfamily_SSF81321 HMMPfam_7tm_1,PatternScan_G_PROTEIN_RECEP_F1_1,superfamily_SSF81321 - no_errors 154 1 0.65 64 29 30.53 NA NA NA +SLC38A6 0 genome.wustl.edu 37 14 61517241 61517241 + Missense_Mutation SNP T T A TCGA-AB-2813-03B-01W-0728-08 TCGA-AB-2813-11B-01W-0728-08 T T T A T T Verified Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq 1 dbGAP Illumina HiSeq 7e85a885-3db1-4382-a10d-7cdce016ddb4 fb24b4e8-ad6e-4397-97f4-1421fe8abb24 14 60586994 60586994 T A SNP SLC38A6 NM_153811.1 human genbank 54_36p +1 provisional missense c.937 p.S313T 1.000 HMMPfam_Aa_trans HMMPfam_Aa_trans - no_errors 665 15 2.19 155 86 35.39 4 8 66.67 +TP53 0 genome.wustl.edu 37 17 7578403 7578403 + Missense_Mutation SNP C C T TCGA-AB-2813-03B-01W-0728-08 TCGA-AB-2813-11B-01W-0728-08 C C C T C C Verified Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq 1 dbGAP Illumina HiSeq 7e85a885-3db1-4382-a10d-7cdce016ddb4 fb24b4e8-ad6e-4397-97f4-1421fe8abb24 17 7519128 7519128 C T SNP TP53 NM_000546.4 human genbank 54_36p -1 reviewed missense c.527 p.C176Y 1.000 superfamily_p53-like transcription factors,HMMPfam_P53 PatternScan_P53,superfamily_p53-like transcription factors,HMMPfam_P53_tetramer,superfamily_p53 tetramerization domain,HMMPfam_P53,HMMPfam_P53_TAD - no_errors 691 18 2.49 46 156 76.47 1 81 98.78 +MYO5B 0 genome.wustl.edu 37 18 47518701 47518701 + Missense_Mutation SNP T T C TCGA-AB-2813-03B-01W-0728-08 TCGA-AB-2813-11B-01W-0728-08 T T T C T T Verified Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq 1 dbGAP Illumina HiSeq 7e85a885-3db1-4382-a10d-7cdce016ddb4 fb24b4e8-ad6e-4397-97f4-1421fe8abb24 18 45772699 45772699 T C SNP MYO5B NM_001080467.1 human genbank 54_36p -1 provisional missense c.713 p.N238S 1.000 HMMPfam_Myosin_head,HMMSmart_SM00242,superfamily_P-loop containing nucleoside triphosphate hydrolases HMMPfam_IQ,HMMSmart_SM00015,HMMPfam_Myosin_head,HMMSmart_SM00242,HMMPfam_DIL,superfamily_P-loop containing nucleoside triphosphate hydrolases - no_errors 1810 20 1.09 96 168 61.99 1 0 0.00 +KIAA1683 0 genome.wustl.edu 37 19 18376918 18376918 + Missense_Mutation SNP T T C TCGA-AB-2813-03B-01W-0728-08 TCGA-AB-2813-11B-01W-0728-08 T T T C T T Verified Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq 1 dbGAP Illumina HiSeq 7e85a885-3db1-4382-a10d-7cdce016ddb4 fb24b4e8-ad6e-4397-97f4-1421fe8abb24 19 18237918 18237918 T C SNP KIAA1683 NM_025249.1 human genbank 54_36p -1 validated missense c.1432 p.K478E 0.020 NULL HMMPfam_IQ,HMMSmart_SM00015,superfamily_P-loop containing nucleoside triphosphate hydrolases - no_errors 517 13 2.44 92 53 36.55 3 2 40.00 +SHROOM2 0 genome.wustl.edu 37 X 9862449 9862449 + Silent SNP C C A TCGA-AB-2814-03D-01W-0755-09 TCGA-AB-2814-11D-01W-0755-09 C C C A C C Verified Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq 1 dbGAP Illumina HiSeq 604f0c72-efc7-4868-bc54-79d8f3f3507b 8fb40399-ec65-44a3-9ca3-700a7728c333 X 9822449 9822449 C A SNP SHROOM2 NM_001649.2 human genbank 54_36p +1 reviewed silent c.501 p.R167 0.890 NULL HMMPfam_PDZ,HMMSmart_SM00228,superfamily_PDZ domain-like,HMMPfam_ASD2,HMMPfam_ASD1 - no_errors 31 0 0.00 81 35 30.17 NA NA NA +HSD3B1 0 genome.wustl.edu 37 1 120054278 120054278 + Missense_Mutation SNP G G A TCGA-AB-2814-03D-01W-0755-09 TCGA-AB-2814-11D-01W-0755-09 G G G A G G Verified Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq 1 dbGAP Illumina HiSeq 604f0c72-efc7-4868-bc54-79d8f3f3507b 8fb40399-ec65-44a3-9ca3-700a7728c333 1 119855801 119855801 G A SNP HSD3B1 NM_000862.2 human genbank 54_36p +1 validated missense c.298 p.V100I 0.976 HMMPfam_3Beta_HSD,superfamily_NAD(P)-bd HMMPfam_3Beta_HSD,superfamily_NAD(P)-bd - no_errors 170 0 0.00 288 84 22.40 NA NA NA +LOC730167 0 genome.wustl.edu 37 1 176585451 176585451 + Missense_Mutation SNP G G A TCGA-AB-2814-03D-01W-0755-09 TCGA-AB-2814-11D-01W-0755-09 G G G A G G Verified Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq 1 dbGAP Illumina HiSeq 604f0c72-efc7-4868-bc54-79d8f3f3507b 8fb40399-ec65-44a3-9ca3-700a7728c333 1 174852074 174852074 G A SNP LOC730167 XM_001134386.1 human genbank 54_36p -1 model missense c.466 p.R156C 1.000 superfamily_(Phosphotyrosine protein) phosphatases II superfamily_(Phosphotyrosine protein) phosphatases II - no_errors 154 1 0.65 212 137 39.03 1 0 0.00 +ATP11B 0 genome.wustl.edu 37 3 182583253 182583253 + Missense_Mutation SNP G G A TCGA-AB-2814-03D-01W-0755-09 TCGA-AB-2814-11D-01W-0755-09 G G G A G G Verified Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq 1 dbGAP Illumina HiSeq 604f0c72-efc7-4868-bc54-79d8f3f3507b 8fb40399-ec65-44a3-9ca3-700a7728c333 3 184065947 184065947 G A SNP ATP11B NM_014616.1 human genbank 54_36p +1 validated missense c.1210 p.V404M 1.000 HMMPfam_Hydrolase,superfamily_SSF56784 HMMPfam_Hydrolase,HMMPfam_E1-E2_ATPase,PatternScan_ATPASE_E1_E2,superfamily_SSF56784,superfamily_SSF81653,superfamily_SSF81660 - no_errors 50 0 0.00 94 43 31.16 53 38 41.76 +LOC100133718 0 genome.wustl.edu 37 4 27774 27774 + Missense_Mutation SNP G G A TCGA-AB-2814-03D-01W-0755-09 TCGA-AB-2814-11D-01W-0755-09 G G G A G G Verified Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq 1 dbGAP Illumina HiSeq 604f0c72-efc7-4868-bc54-79d8f3f3507b 8fb40399-ec65-44a3-9ca3-700a7728c333 4 17774 17774 G A SNP LOC100133718 XM_001713866.1 human genbank 54_36p -1 model missense c.88 p.P30S 0.000 NULL NULL - no_start_codon:pseudogene:no_stop_codon 377 33 8.05 1078 132 10.81 NA NA NA +LOC645181 0 genome.wustl.edu 37 5 84845268 84845268 + RNA SNP C C T TCGA-AB-2814-03D-01W-0755-09 TCGA-AB-2814-11D-01W-0755-09 C C C T C C Verified Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq 1 dbGAP Illumina HiSeq 604f0c72-efc7-4868-bc54-79d8f3f3507b 8fb40399-ec65-44a3-9ca3-700a7728c333 5 84881024 84881024 C T SNP LOC645181 XR_017382.2 human genbank 54_36p +1 model rna NULL NULL 0.618 - - - pseudogene 33 1 2.86 71 47 39.50 8 0 0.00 +PMPCB 0 genome.wustl.edu 37 7 102939894 102939894 + Missense_Mutation SNP G G T TCGA-AB-2814-03D-01W-0755-09 TCGA-AB-2814-11D-01W-0755-09 G G G T G G Verified Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq 1 dbGAP Illumina HiSeq 604f0c72-efc7-4868-bc54-79d8f3f3507b 8fb40399-ec65-44a3-9ca3-700a7728c333 7 102727130 102727130 G T SNP PMPCB NM_004279.2 human genbank 54_36p +1 reviewed missense c.245 p.G82V 1.000 superfamily_Metalloenz_metal-bd,HMMPfam_Peptidase_M16 PatternScan_INSULINASE,HMMPfam_Peptidase_M16_C,superfamily_Metalloenz_metal-bd,HMMPfam_Peptidase_M16 - no_errors 94 1 1.05 130 63 32.47 57 75 56.82 +CACNA1B 0 genome.wustl.edu 37 9 140943767 140943767 + Missense_Mutation SNP C C T TCGA-AB-2814-03D-01W-0755-09 TCGA-AB-2814-11D-01W-0755-09 C C C T C C Verified Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq 1 dbGAP Illumina HiSeq 604f0c72-efc7-4868-bc54-79d8f3f3507b 8fb40399-ec65-44a3-9ca3-700a7728c333 9 140063588 140063588 C T SNP CACNA1B NM_000718.2 human genbank 54_36p +1 validated missense c.3710 p.S1237L 1.000 HMMPfam_Ion_trans,superfamily_Voltage-gated potassium channels HMMPfam_Ion_trans,HMMPfam_Ca_chan_IQ,superfamily_Voltage-gated potassium channels - no_errors 265 1 0.38 236 138 36.80 NA NA NA +FLT3 0 genome.wustl.edu 37 13 28592640 28592640 + Missense_Mutation SNP A A C rs121913487 TCGA-AB-2814-03D-01W-0755-09 TCGA-AB-2814-11D-01W-0755-09 A A A C A A Verified Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq 1 dbGAP Illumina HiSeq 604f0c72-efc7-4868-bc54-79d8f3f3507b 8fb40399-ec65-44a3-9ca3-700a7728c333 13 27490640 27490640 A C SNP FLT3 NM_004119.2 human genbank 54_36p -1 reviewed missense c.2505 p.D835E 0.991 HMMPfam_Pkinase_Tyr,HMMSmart_TyrKc,superfamily_Kinase_like HMMPfam_Pkinase_Tyr,HMMSmart_TyrKc,PatternScan_RECEPTOR_TYR_KIN_III,PatternScan_PROTEIN_KINASE_TYR,superfamily_Kinase_like,HMMPfam_ig,PatternScan_PROTEIN_KINASE_ATP,superfamily_SSF48726 - no_errors 48 0 0.00 93 24 19.83 309 147 32.24 +FAM65A 0 genome.wustl.edu 37 16 67578879 67578879 + Missense_Mutation SNP C C T TCGA-AB-2814-03D-01W-0755-09 TCGA-AB-2814-11D-01W-0755-09 C C C T C C Verified Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq 1 dbGAP Illumina HiSeq 604f0c72-efc7-4868-bc54-79d8f3f3507b 8fb40399-ec65-44a3-9ca3-700a7728c333 16 66136380 66136380 C T SNP FAM65A NM_024519.2 human genbank 54_36p +1 validated missense c.2890 p.R964W 0.018 NULL superfamily_ARM-type_fold - no_errors 48 0 0.00 30 32 51.61 16 21 56.76 +UPF1 0 genome.wustl.edu 37 19 18963815 18963815 + Missense_Mutation SNP T T A TCGA-AB-2814-03D-01W-0755-09 TCGA-AB-2814-11D-01W-0755-09 T T T A T T Verified Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq 1 dbGAP Illumina HiSeq 604f0c72-efc7-4868-bc54-79d8f3f3507b 8fb40399-ec65-44a3-9ca3-700a7728c333 19 18824815 18824815 T A SNP UPF1 NM_002911.3 human genbank 54_36p +1 reviewed missense c.992 p.V331D 1.000 NULL HMMPfam_ResIII,HMMPfam_UPF1_Zn_bind,superfamily_SSF52540 - no_errors 40 0 0.00 51 31 37.80 55 42 43.30 +TMPRSS15 0 genome.wustl.edu 37 21 19666640 19666640 + Silent SNP G G A TCGA-AB-2814-03D-01W-0755-09 TCGA-AB-2814-11D-01W-0755-09 G G G A G G Verified Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq 1 dbGAP Illumina HiSeq 604f0c72-efc7-4868-bc54-79d8f3f3507b 8fb40399-ec65-44a3-9ca3-700a7728c333 21 18588511 18588511 G A SNP PRSS7 NM_002772.2 human genbank 54_36p -1 reviewed silent c.2433 p.G811 0.930 HMMPfam_Trypsin,HMMSmart_SM00020,superfamily_Trypsin-like serine proteases HMMPfam_SEA,HMMSmart_SM00200,HMMPfam_CUB,HMMSmart_SM00042,superfamily_Spermadhesin CUB domain,HMMPfam_MAM,HMMSmart_SM00137,PatternScan_MAM_1,HMMPfam_SRCR,HMMPfam_Trypsin,HMMSmart_SM00020,HMMPfam_Ldl_recept_a,HMMSmart_SM00192,PatternScan_LDLRA_1,superfamily_LDL receptor-like module,superfamily_Trypsin-like serine proteases,HMMSmart_SM00202,superfamily_SRCR-like,PatternScan_TRYPSIN_HIS,PatternScan_TRYPSIN_SER,superfamily_SEA domain - no_errors 21 0 0.00 45 30 40.00 NA NA NA +BCORL1 0 genome.wustl.edu 37 X 129148536 129148537 + Frame_Shift_Ins INS - - A TCGA-AB-2814-03D-01W-0755-09 TCGA-AB-2814-11D-01W-0755-09 - - - A - - Verified Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq 1 dbGAP Illumina HiSeq 604f0c72-efc7-4868-bc54-79d8f3f3507b 8fb40399-ec65-44a3-9ca3-700a7728c333 X 128976217 128976218 - A INS BCORL1 NM_021946.2 human genbank 54_36p +1 validated frame_shift_ins c.1788_1789 p.T596fs 0.002:0.198 NULL HMMPfam_Ank,HMMSmart_SM00248,superfamily_Ankyrin repeat - no_errors 20 0 0.00 48 32 40.00 17 35 67.31 +NRAS 0 genome.wustl.edu 37 1 115258744 115258744 + Missense_Mutation SNP C C T rs121434596 TCGA-AB-2816-03B-01W-0728-08 TCGA-AB-2816-11B-01W-0728-08 C C C T C C Verified Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq 1 dbGAP Illumina HiSeq 44030c30-5dd3-4deb-b2ff-3e3bda693330 6a0db1cf-f431-4c67-b3fb-185dfe9979c9 1 115060267 115060267 C T SNP NRAS NM_002524.3 human genbank 54_36p -1 reviewed missense c.38 p.G13D 1.000 HMMSmart_SM00173,HMMSmart_SM00174,HMMSmart_SM00175,HMMPfam_Ras,superfamily_P-loop containing nucleoside triphosphate hydrolases HMMSmart_SM00173,HMMSmart_SM00174,HMMSmart_SM00175,HMMPfam_Ras,superfamily_P-loop containing nucleoside triphosphate hydrolases - no_errors 54 4 6.90 155 29 15.76 44 18 29.03 +CAMK1G 0 genome.wustl.edu 37 1 209785354 209785354 + Missense_Mutation SNP G G A TCGA-AB-2816-03B-01W-0728-08 TCGA-AB-2816-11B-01W-0728-08 G G G A G G Verified Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq 1 dbGAP Illumina HiSeq 44030c30-5dd3-4deb-b2ff-3e3bda693330 6a0db1cf-f431-4c67-b3fb-185dfe9979c9 1 207851977 207851977 G A SNP CAMK1G NM_020439.2 human genbank 54_36p +1 reviewed missense c.1133 p.G378D 0.001 superfamily_Protein kinase-like (PK-like) HMMSmart_SM00219,HMMSmart_SM00220,PatternScan_PROTEIN_KINASE_ST,superfamily_Protein kinase-like (PK-like),PatternScan_PROTEIN_KINASE_ATP,HMMPfam_Pkinase - no_errors 44 3 6.25 80 75 48.08 NA NA NA +DNMT3A 0 genome.wustl.edu 37 2 25457243 25457243 + Missense_Mutation SNP G G A TCGA-AB-2816-03B-01W-0728-08 TCGA-AB-2816-11B-01W-0728-08 G G G A G G Verified Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq 1 dbGAP Illumina HiSeq 44030c30-5dd3-4deb-b2ff-3e3bda693330 6a0db1cf-f431-4c67-b3fb-185dfe9979c9 2 25310747 25310747 G A SNP DNMT3A NM_022552.3 human genbank 54_36p -1 reviewed missense c.2644 p.R882C 1.000 superfamily_S-adenosyl-L-methionine-dependent methyltransferases HMMPfam_PWWP,HMMSmart_SM00293,HMMPfam_DNA_methylase,superfamily_FYVE/PHD zinc finger,PatternScan_C5_MTASE_1,superfamily_S-adenosyl-L-methionine-dependent methyltransferases,superfamily_Tudor/PWWP/MBT - no_errors 59 7 10.61 74 72 48.98 3 30 90.91 +C9orf171 0 genome.wustl.edu 37 9 135447815 135447815 + Missense_Mutation SNP G G A TCGA-AB-2816-03B-01W-0728-08 TCGA-AB-2816-11B-01W-0728-08 G G G A G G Verified Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq 1 dbGAP Illumina HiSeq 44030c30-5dd3-4deb-b2ff-3e3bda693330 6a0db1cf-f431-4c67-b3fb-185dfe9979c9 9 134437636 134437636 G A SNP C9orf171 NM_207417.1 human genbank 54_36p +1 predicted missense c.881 p.R294H 0.996 NULL NULL - no_errors 26 3 10.34 40 35 45.45 NA NA NA +LOC645954 0 genome.wustl.edu 37 10 30993432 30993432 + RNA SNP A A T TCGA-AB-2816-03B-01W-0728-08 TCGA-AB-2816-11B-01W-0728-08 A A A T A A Verified Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq 1 dbGAP Illumina HiSeq 44030c30-5dd3-4deb-b2ff-3e3bda693330 6a0db1cf-f431-4c67-b3fb-185dfe9979c9 10 31033438 31033438 A T SNP LOC645954 XR_017086.2 human genbank 54_36p +1 model rna NULL NULL 1.000 - - - no_errors 37 5 11.90 99 67 40.12 NA NA NA +FAIM2 0 genome.wustl.edu 37 12 50282962 50282962 + Silent SNP G G C TCGA-AB-2816-03B-01W-0728-08 TCGA-AB-2816-11B-01W-0728-08 G G G C G G Verified Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq 1 dbGAP Illumina HiSeq 44030c30-5dd3-4deb-b2ff-3e3bda693330 6a0db1cf-f431-4c67-b3fb-185dfe9979c9 12 48569229 48569229 G C SNP FAIM2 NM_012306.2 human genbank 54_36p -1 validated silent c.675 p.G225 0.973 HMMPfam_UPF0005 HMMPfam_UPF0005 - no_errors 86 7 7.53 194 127 39.56 NA NA NA +FLT3 0 genome.wustl.edu 37 13 28592642 28592642 + Missense_Mutation SNP C C A rs121913488 TCGA-AB-2816-03B-01W-0728-08 TCGA-AB-2816-11B-01W-0728-08 C C C A C C Verified Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq 1 dbGAP Illumina HiSeq 44030c30-5dd3-4deb-b2ff-3e3bda693330 6a0db1cf-f431-4c67-b3fb-185dfe9979c9 13 27490642 27490642 C A SNP FLT3 NM_004119.2 human genbank 54_36p -1 reviewed missense c.2503 p.D835Y 1.000 HMMPfam_Pkinase_Tyr,HMMSmart_TyrKc,superfamily_Kinase_like HMMPfam_Pkinase_Tyr,HMMSmart_TyrKc,PatternScan_RECEPTOR_TYR_KIN_III,PatternScan_PROTEIN_KINASE_TYR,superfamily_Kinase_like,HMMPfam_ig,PatternScan_PROTEIN_KINASE_ATP,superfamily_SSF48726 - no_errors 51 1 1.89 105 40 27.21 126 23 15.44 +TGM6 0 genome.wustl.edu 37 20 2384303 2384303 + Silent SNP C C T TCGA-AB-2816-03B-01W-0728-08 TCGA-AB-2816-11B-01W-0728-08 C C C T C C Verified Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq 1 dbGAP Illumina HiSeq 44030c30-5dd3-4deb-b2ff-3e3bda693330 6a0db1cf-f431-4c67-b3fb-185dfe9979c9 20 2332303 2332303 C T SNP TGM6 NM_198994.2 human genbank 54_36p +1 validated silent c.1170 p.F390 0.993 superfamily_Cysteine proteinases HMMPfam_Transglut_N,HMMPfam_Transglut_core,HMMSmart_SM00460,HMMPfam_Transglut_C,superfamily_Transglutaminase two C-terminal domains,PatternScan_TRANSGLUTAMINASES,superfamily_E set domains,superfamily_Cysteine proteinases - no_errors 12 0 0.00 39 35 47.30 NA NA NA +NPM1 0 genome.wustl.edu 37 5 170837543 170837544 + Frame_Shift_Ins INS - - TCTG TCGA-AB-2816-03B-01W-0728-08 TCGA-AB-2816-11B-01W-0728-08 - - - TCTG - - Verified Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq 1 dbGAP Illumina HiSeq 44030c30-5dd3-4deb-b2ff-3e3bda693330 6a0db1cf-f431-4c67-b3fb-185dfe9979c9 5 170770148 170770149 - TCTG INS NPM1 NM_002520.1 human genbank 54_36p +1 validated frame_shift_ins c.859_860 p.W288fs 1.000:1.000 NULL HMMPfam_Nucleoplasmin,superfamily_Nucleoplasmin-like core domain - no_errors NA NA NA NA NA NA NA NA NA +FAM5C 0 genome.wustl.edu 37 1 190067861 190067861 + Missense_Mutation SNP G G A TCGA-AB-2817-03B-01W-0728-08 TCGA-AB-2817-11B-01W-0728-08 G G G A G G Verified Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq 1 dbGAP Illumina HiSeq 1c97470b-4715-470b-b0c7-9e4807b5fae4 800efb0e-942d-4afc-bdb3-454dc18c6c38 1 188334484 188334484 G A SNP FAM5C NM_199051.1 human genbank 54_36p -1 provisional missense c.1588 p.R530C 1.000 NULL HMMPfam_MACPF,HMMSmart_SM00457 - no_errors 29 0 0.00 90 62 40.79 NA NA NA +TRNT1 0 genome.wustl.edu 37 3 3189779 3189779 + Missense_Mutation SNP A A G TCGA-AB-2817-03B-01W-0728-08 TCGA-AB-2817-11B-01W-0728-08 A A A G A A Verified Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq 1 dbGAP Illumina HiSeq 1c97470b-4715-470b-b0c7-9e4807b5fae4 800efb0e-942d-4afc-bdb3-454dc18c6c38 3 3164779 3164779 A G SNP TRNT1 NM_182916.2 human genbank 54_36p +1 validated missense c.1246 p.K416E 1.000 superfamily_Poly A polymerase C-terminal region-like HMMPfam_PolyA_pol,superfamily_Nucleotidyltransferase,superfamily_Poly A polymerase C-terminal region-like - no_errors 27 0 0.00 75 62 45.26 16 11 40.74 +ZNF502 0 genome.wustl.edu 37 3 44763608 44763608 + Missense_Mutation SNP A A T TCGA-AB-2817-03B-01W-0728-08 TCGA-AB-2817-11B-01W-0728-08 A A A T A A Verified Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq 1 dbGAP Illumina HiSeq 1c97470b-4715-470b-b0c7-9e4807b5fae4 800efb0e-942d-4afc-bdb3-454dc18c6c38 3 44738612 44738612 A T SNP ZNF502 NM_033210.1 human genbank 54_36p +1 validated missense c.1299 p.K433N 1.000 superfamily_SSF57667 HMMPfam_zf-C2H2,PatternScan_ZINC_FINGER_C2H2_1,HMMSmart_ZnF_C2H2,superfamily_SSF57667 - no_errors 153 1 0.64 63 47 42.73 NA NA NA +GALNT7 0 genome.wustl.edu 37 4 174219440 174219440 + Silent SNP A A G TCGA-AB-2817-03B-01W-0728-08 TCGA-AB-2817-11B-01W-0728-08 A A A G A A Verified Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq 1 dbGAP Illumina HiSeq 1c97470b-4715-470b-b0c7-9e4807b5fae4 800efb0e-942d-4afc-bdb3-454dc18c6c38 4 174456015 174456015 A G SNP GALNT7 NM_017423.2 human genbank 54_36p +1 reviewed silent c.1140 p.E380 1.000 HMMPfam_Glycos_transf_2,superfamily_Nucleotide-diphospho-sugar transferases HMMPfam_Ricin_B_lectin,HMMSmart_SM00458,HMMPfam_Glycos_transf_2,superfamily_Ricin B-like lectins,superfamily_Nucleotide-diphospho-sugar transferases - no_errors 42 0 0.00 67 60 47.24 25 18 41.86 +CMYA5 0 genome.wustl.edu 37 5 79034411 79034411 + Missense_Mutation SNP C C T TCGA-AB-2817-03B-01W-0728-08 TCGA-AB-2817-11B-01W-0728-08 C C C T C C Verified Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq 1 dbGAP Illumina HiSeq 1c97470b-4715-470b-b0c7-9e4807b5fae4 800efb0e-942d-4afc-bdb3-454dc18c6c38 5 79070167 79070167 C T SNP CMYA5 NM_153610.3 human genbank 54_36p +1 validated missense c.9823 p.P3275S 0.515 NULL HMMPfam_SPRY,HMMPfam_fn3,HMMSmart_FN3,superfamily_FN_III-like - no_errors 73 0 0.00 149 129 46.40 NA NA NA +GPR6 0 genome.wustl.edu 37 6 110300868 110300868 + Missense_Mutation SNP G G A TCGA-AB-2817-03B-01W-0728-08 TCGA-AB-2817-11B-01W-0728-08 G G G A G G Verified Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq 1 dbGAP Illumina HiSeq 1c97470b-4715-470b-b0c7-9e4807b5fae4 800efb0e-942d-4afc-bdb3-454dc18c6c38 6 110407561 110407561 G A SNP GPR6 NM_005284.3 human genbank 54_36p +1 validated missense c.553 p.V185M 1.000 HMMPfam_7tm_1,superfamily_SSF81321 HMMPfam_7tm_1,PatternScan_G_PROTEIN_RECEP_F1_1,superfamily_SSF81321 - no_errors 35 0 0.00 44 43 49.43 NA NA NA +FAM115A 0 genome.wustl.edu 37 7 143573124 143573124 + Missense_Mutation SNP A A G TCGA-AB-2817-03B-01W-0728-08 TCGA-AB-2817-11B-01W-0728-08 A A A G A A Verified Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq 1 dbGAP Illumina HiSeq 1c97470b-4715-470b-b0c7-9e4807b5fae4 800efb0e-942d-4afc-bdb3-454dc18c6c38 7 143204057 143204057 A G SNP FAM115A NM_014719.1 human genbank 54_36p -1 predicted missense c.578 p.F193S 0.934 NULL NULL - no_errors 62 0 0.00 13 88 87.13 2 4 66.67 +CYP26A1 0 genome.wustl.edu 37 10 94835682 94835682 + Missense_Mutation SNP G G A TCGA-AB-2817-03B-01W-0728-08 TCGA-AB-2817-11B-01W-0728-08 G G G A G G Verified Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq 1 dbGAP Illumina HiSeq 1c97470b-4715-470b-b0c7-9e4807b5fae4 800efb0e-942d-4afc-bdb3-454dc18c6c38 10 94825672 94825672 G A SNP CYP26A1 NM_000783.3 human genbank 54_36p +1 reviewed missense c.964 p.V322I 0.887 HMMPfam_p450,superfamily_Cytochrome_P450 HMMPfam_p450,superfamily_Cytochrome_P450,PatternScan_CYTOCHROME_P450 - no_errors 64 1 1.54 33 20 37.74 NA NA NA +AP3S2 0 genome.wustl.edu 37 15 90414717 90414717 + Missense_Mutation SNP T T C TCGA-AB-2817-03B-01W-0728-08 TCGA-AB-2817-11B-01W-0728-08 T T T C T T Verified Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq 1 dbGAP Illumina HiSeq 1c97470b-4715-470b-b0c7-9e4807b5fae4 800efb0e-942d-4afc-bdb3-454dc18c6c38 15 88215721 88215721 T C SNP AP3S2 NM_005829.4 human genbank 54_36p -1 validated missense c.335 p.H112R 1.000 HMMPfam_Clat_adaptor_s,superfamily_SNARE-like HMMPfam_Clat_adaptor_s,PatternScan_CLAT_ADAPTOR_S,superfamily_SNARE-like - no_errors 57 0 0.00 24 14 36.84 18 13 41.94 +SSTR4 0 genome.wustl.edu 37 20 23016628 23016628 + Missense_Mutation SNP G G A TCGA-AB-2817-03B-01W-0728-08 TCGA-AB-2817-11B-01W-0728-08 G G G A G G Verified Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq 1 dbGAP Illumina HiSeq 1c97470b-4715-470b-b0c7-9e4807b5fae4 800efb0e-942d-4afc-bdb3-454dc18c6c38 20 22964628 22964628 G A SNP SSTR4 NM_001052.2 human genbank 54_36p +1 validated missense c.508 p.V170M 0.990 HMMPfam_7tm_1,superfamily_SSF81321 HMMPfam_7tm_1,PatternScan_G_PROTEIN_RECEP_F1_1,superfamily_SSF81321 - no_errors 28 0 0.00 16 7 30.43 NA NA NA +EZH2 0 genome.wustl.edu 37 7 148504762 148504763 + Frame_Shift_Ins INS - - ATGCA TCGA-AB-2817-03B-01W-0728-08 TCGA-AB-2817-11B-01W-0728-08 - - - ATGCA - - Verified Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq 1 dbGAP Illumina HiSeq 1c97470b-4715-470b-b0c7-9e4807b5fae4 800efb0e-942d-4afc-bdb3-454dc18c6c38 7 148135695 148135696 - ATGCA INS EZH2 NM_004456.3 human genbank 54_36p -1 reviewed frame_shift_ins c.2232_2231 p.E745fs 0.985:1.000 NULL HMMSmart_SANT,HMMPfam_SET,HMMSmart_SET,superfamily_SSF82199 - no_errors NA NA NA NA NA NA NA NA NA +EZH2 0 genome.wustl.edu 37 7 148504763 148504764 + Frame_Shift_Ins INS - - ATGCA TCGA-AB-2817-03B-01W-0728-08 TCGA-AB-2817-11B-01W-0728-08 - - - ATGCA - - Verified Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq 1 dbGAP Illumina HiSeq 1c97470b-4715-470b-b0c7-9e4807b5fae4 800efb0e-942d-4afc-bdb3-454dc18c6c38 7 148135696 148135697 - ATGCA INS EZH2 NM_004456.3 human genbank 54_36p -1 reviewed frame_shift_ins c.2231_2230 p.I744fs 1.000:1.000 NULL HMMSmart_SANT,HMMPfam_SET,HMMSmart_SET,superfamily_SSF82199 - no_errors NA NA NA NA NA NA NA NA NA +CBFB 0 genome.wustl.edu 37 16 67116171 67116172 + Frame_Shift_Ins INS - - A TCGA-AB-2817-03B-01W-0728-08 TCGA-AB-2817-11B-01W-0728-08 - - - A - - Verified Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq 1 dbGAP Illumina HiSeq 1c97470b-4715-470b-b0c7-9e4807b5fae4 800efb0e-942d-4afc-bdb3-454dc18c6c38 16 65673672 65673673 - A INS CBFB NM_022845.2 human genbank 54_36p +1 reviewed frame_shift_ins c.455_456 p.F153fs 1.000:1.000 HMMPfam_CBF_beta HMMPfam_CBF_beta,superfamily_CBF_beta - no_errors 288 0 0.00 197 0 0.00 12 0 0.00 +LOC646346 0 genome.wustl.edu 37 X 26705664 26705664 + RNA SNP G G A TCGA-AB-2818-03B-01W-0728-08 TCGA-AB-2818-11B-01W-0728-08 G G G A G G Verified Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq 1 dbGAP Illumina HiSeq 84ca77c7-0799-4e5c-bed8-034e78b899f0 4bbe86bc-4b1c-43fc-a949-4599c083d8e4 X 26615585 26615585 G A SNP LOC646346 XR_017105.2 human genbank 54_36p +1 model rna NULL NULL 1.000 - - - pseudogene 44 0 0.00 112 29 20.57 NA NA NA +KLHL12 0 genome.wustl.edu 37 1 202863740 202863740 + Missense_Mutation SNP T T G TCGA-AB-2818-03B-01W-0728-08 TCGA-AB-2818-11B-01W-0728-08 T T T G T T Verified Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq 1 dbGAP Illumina HiSeq 84ca77c7-0799-4e5c-bed8-034e78b899f0 4bbe86bc-4b1c-43fc-a949-4599c083d8e4 1 201130363 201130363 T G SNP KLHL12 NM_021633.2 human genbank 54_36p -1 provisional missense c.1273 p.S425R 1.000 HMMPfam_Kelch_1,HMMSmart_Kelch,superfamily_Gal_oxid_central HMMSmart_BTB,HMMPfam_Kelch_1,HMMSmart_Kelch,superfamily_Gal_oxid_central,superfamily_BTB/POZ_fold,HMMPfam_BACK,HMMPfam_BTB - no_errors 27 0 0.00 56 59 51.30 3 2 40.00 +DNMT3A 0 genome.wustl.edu 37 2 25459874 25459874 + Missense_Mutation SNP C C G TCGA-AB-2818-03B-01W-0728-08 TCGA-AB-2818-11B-01W-0728-08 C C C G C C Verified Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq 1 dbGAP Illumina HiSeq 84ca77c7-0799-4e5c-bed8-034e78b899f0 4bbe86bc-4b1c-43fc-a949-4599c083d8e4 2 25313378 25313378 C G SNP DNMT3A NM_022552.3 human genbank 54_36p -1 reviewed missense c.2409 p.R803S 1.000 superfamily_S-adenosyl-L-methionine-dependent methyltransferases HMMPfam_PWWP,HMMSmart_SM00293,HMMPfam_DNA_methylase,superfamily_FYVE/PHD zinc finger,PatternScan_C5_MTASE_1,superfamily_S-adenosyl-L-methionine-dependent methyltransferases,superfamily_Tudor/PWWP/MBT - no_errors 24 1 4.00 24 14 36.84 16 5 23.81 +TRPM8 0 genome.wustl.edu 37 2 234846004 234846004 + Missense_Mutation SNP G G A TCGA-AB-2818-03B-01W-0728-08 TCGA-AB-2818-11B-01W-0728-08 G G G A G G Verified Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq 1 dbGAP Illumina HiSeq 84ca77c7-0799-4e5c-bed8-034e78b899f0 4bbe86bc-4b1c-43fc-a949-4599c083d8e4 2 234510743 234510743 G A SNP TRPM8 NM_024080.4 human genbank 54_36p +1 validated missense c.199 p.V67M 0.006 NULL HMMPfam_Ion_trans - no_errors 28 0 0.00 65 63 49.22 NA NA NA +MAPK9 0 genome.wustl.edu 37 5 179676061 179676061 + Silent SNP C C T TCGA-AB-2818-03B-01W-0728-08 TCGA-AB-2818-11B-01W-0728-08 C C C T C C Verified Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq 1 dbGAP Illumina HiSeq 84ca77c7-0799-4e5c-bed8-034e78b899f0 4bbe86bc-4b1c-43fc-a949-4599c083d8e4 5 179608667 179608667 C T SNP MAPK9 NM_002752.1 human genbank 54_36p -1 reviewed silent c.528 p.A176 0.606 HMMSmart_SM00219,HMMSmart_SM00220,superfamily_Protein kinase-like (PK-like),HMMPfam_Pkinase HMMSmart_SM00219,HMMSmart_SM00220,PatternScan_MAPK,PatternScan_PROTEIN_KINASE_ST,superfamily_Protein kinase-like (PK-like),HMMPfam_Pkinase - no_errors 22 0 0.00 45 49 52.13 22 26 54.17 +MEA1 0 genome.wustl.edu 37 6 42981063 42981063 + Silent SNP G G A TCGA-AB-2818-03B-01W-0728-08 TCGA-AB-2818-11B-01W-0728-08 G G G A G G Verified Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq 1 dbGAP Illumina HiSeq 84ca77c7-0799-4e5c-bed8-034e78b899f0 4bbe86bc-4b1c-43fc-a949-4599c083d8e4 6 43089041 43089041 G A SNP MEA1 NM_014623.2 human genbank 54_36p -1 validated silent c.93 p.P31 0.997 HMMPfam_MEA1 HMMPfam_MEA1 - no_errors 125 0 0.00 73 55 42.64 16 6 26.09 +FBXO30 0 genome.wustl.edu 37 6 146125956 146125956 + Missense_Mutation SNP C C T TCGA-AB-2818-03B-01W-0728-08 TCGA-AB-2818-11B-01W-0728-08 C C C T C C Verified Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq 1 dbGAP Illumina HiSeq 84ca77c7-0799-4e5c-bed8-034e78b899f0 4bbe86bc-4b1c-43fc-a949-4599c083d8e4 6 146167649 146167649 C T SNP FBXO30 NM_032145.4 human genbank 54_36p -1 reviewed missense c.1586 p.R529K 1.000 NULL HMMPfam_F-box,HMMSmart_FBOX,superfamily_Traf_like,superfamily_SSF81383 - no_errors 54 1 1.79 97 80 45.20 16 6 27.27 +PSD3 0 genome.wustl.edu 37 8 18725297 18725297 + Silent SNP C C G TCGA-AB-2818-03B-01W-0728-08 TCGA-AB-2818-11B-01W-0728-08 C C C G C C Verified Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq 1 dbGAP Illumina HiSeq 84ca77c7-0799-4e5c-bed8-034e78b899f0 4bbe86bc-4b1c-43fc-a949-4599c083d8e4 8 18769577 18769577 C G SNP PSD3 NM_015310.3 human genbank 54_36p -1 validated silent c.1521 p.V507 0.111 NULL HMMPfam_Sec7,HMMSmart_Sec7,superfamily_Sec7,HMMPfam_PH,HMMSmart_PH,superfamily_SSF50729 - no_errors 77 0 0.00 102 79 43.65 2 1 33.33 +LOC646609 0 genome.wustl.edu 37 9 22748240 22748240 + RNA SNP G G A TCGA-AB-2818-03B-01W-0728-08 TCGA-AB-2818-11B-01W-0728-08 G G G A G G Verified Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq 1 dbGAP Illumina HiSeq 84ca77c7-0799-4e5c-bed8-034e78b899f0 4bbe86bc-4b1c-43fc-a949-4599c083d8e4 9 22738240 22738240 G A SNP LOC646609 XR_037907.1 human genbank 54_36p +1 model rna NULL NULL 0.042 - - - pseudogene 31 0 0.00 77 74 48.68 NA NA NA +C5 0 genome.wustl.edu 37 9 123724995 123724995 + Silent SNP C C A TCGA-AB-2818-03B-01W-0728-08 TCGA-AB-2818-11B-01W-0728-08 C C C A C C Verified Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq 1 dbGAP Illumina HiSeq 84ca77c7-0799-4e5c-bed8-034e78b899f0 4bbe86bc-4b1c-43fc-a949-4599c083d8e4 9 122764816 122764816 C A SNP C5 NM_001735.2 human genbank 54_36p -1 reviewed silent c.4458 p.G1486 0.995 HMMPfam_A2M_recep,superfamily_AM_receptor_bind HMMPfam_ANATO,HMMSmart_ANATO,PatternScan_ANAPHYLATOXIN_1,HMMPfam_A2M,HMMPfam_A2M_N,superfamily_Terp_cyc_toroid,HMMPfam_A2M_recep,superfamily_AM_receptor_bind,HMMPfam_A2M_N_2,HMMPfam_A2M_comp,superfamily_Anaphylatoxin,HMMPfam_NTR,HMMSmart_C345C,PatternScan_ALPHA_2_MACROGLOBULIN - no_errors 54 1 1.82 82 57 41.01 4 6 60.00 +PIPSL 0 genome.wustl.edu 37 10 95720258 95720258 + Missense_Mutation SNP C C G TCGA-AB-2818-03B-01W-0728-08 TCGA-AB-2818-11B-01W-0728-08 C C C G C C Verified Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq 1 dbGAP Illumina HiSeq 84ca77c7-0799-4e5c-bed8-034e78b899f0 4bbe86bc-4b1c-43fc-a949-4599c083d8e4 10 95710248 95710248 C G SNP PIPSL ENST00000340582 human ensembl 54_36p -1 known missense c.896 p.R299T 0.156 HMMPfam_PIP5K,HMMSmart_PIPKc,superfamily_SSF56104 HMMSmart_VWA,HMMPfam_PIP5K,HMMPfam_UIM,HMMSmart_PIPKc,superfamily_SSF53300,superfamily_SSF56104 - no_errors 31 0 0.00 59 51 45.95 34 0 0.00 +HPS5 0 genome.wustl.edu 37 11 18314458 18314458 + Missense_Mutation SNP G G A TCGA-AB-2818-03B-01W-0728-08 TCGA-AB-2818-11B-01W-0728-08 G G G A G G Verified Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq 1 dbGAP Illumina HiSeq 84ca77c7-0799-4e5c-bed8-034e78b899f0 4bbe86bc-4b1c-43fc-a949-4599c083d8e4 11 18271034 18271034 G A SNP HPS5 NM_181507.3 human genbank 54_36p -1 reviewed missense c.1850 p.T617I 1.000 NULL superfamily_WD40 repeat-like - no_errors 30 0 0.00 81 65 44.52 11 8 42.11 +FLT3 0 genome.wustl.edu 37 13 28592642 28592642 + Missense_Mutation SNP C C A rs121913488 TCGA-AB-2818-03B-01W-0728-08 TCGA-AB-2818-11B-01W-0728-08 C C C A C C Verified Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq 1 dbGAP Illumina HiSeq 84ca77c7-0799-4e5c-bed8-034e78b899f0 4bbe86bc-4b1c-43fc-a949-4599c083d8e4 13 27490642 27490642 C A SNP FLT3 NM_004119.2 human genbank 54_36p -1 reviewed missense c.2503 p.D835Y 1.000 HMMPfam_Pkinase_Tyr,HMMSmart_TyrKc,superfamily_Kinase_like HMMPfam_Pkinase_Tyr,HMMSmart_TyrKc,PatternScan_RECEPTOR_TYR_KIN_III,PatternScan_PROTEIN_KINASE_TYR,superfamily_Kinase_like,HMMPfam_ig,PatternScan_PROTEIN_KINASE_ATP,superfamily_SSF48726 - no_errors 41 0 0.00 71 57 44.53 141 104 42.45 +LOC647211 0 genome.wustl.edu 37 16 33425053 33425053 + RNA SNP G G A TCGA-AB-2818-03B-01W-0728-08 TCGA-AB-2818-11B-01W-0728-08 G G G A G G Verified Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq 1 dbGAP Illumina HiSeq 84ca77c7-0799-4e5c-bed8-034e78b899f0 4bbe86bc-4b1c-43fc-a949-4599c083d8e4 16 33332554 33332554 G A SNP LOC647211 XR_017499.2 human genbank 54_36p +1 model rna NULL NULL 0.001 - - - pseudogene 153 0 0.00 330 46 12.23 NA NA NA +NPM1 0 genome.wustl.edu 37 5 170837543 170837544 + Frame_Shift_Ins INS - - TCTG TCGA-AB-2818-03B-01W-0728-08 TCGA-AB-2818-11B-01W-0728-08 - - - TCTG - - Verified Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq 1 dbGAP Illumina HiSeq 84ca77c7-0799-4e5c-bed8-034e78b899f0 4bbe86bc-4b1c-43fc-a949-4599c083d8e4 5 170770148 170770149 - TCTG INS NPM1 NM_002520.1 human genbank 54_36p +1 validated frame_shift_ins c.859_860 p.W288fs 1.000:1.000 NULL HMMPfam_Nucleoplasmin,superfamily_Nucleoplasmin-like core domain - no_errors NA NA NA NA NA NA NA NA NA +RAD21 0 genome.wustl.edu 37 8 117875497 117875498 + Frame_Shift_Ins INS - - C TCGA-AB-2818-03B-01W-0728-08 TCGA-AB-2818-11B-01W-0728-08 - - - C - - Verified Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq 1 dbGAP Illumina HiSeq 84ca77c7-0799-4e5c-bed8-034e78b899f0 4bbe86bc-4b1c-43fc-a949-4599c083d8e4 8 117944678 117944679 - C INS RAD21 NM_006265.2 human genbank 54_36p -1 reviewed frame_shift_ins c.146_145 p.V49fs 1.000:1.000 HMMPfam_Rad21_Rec8_N HMMPfam_Rad21_Rec8,HMMPfam_Rad21_Rec8_N - no_errors 33 0 0.00 86 77 47.24 11 0 0.00 +PCDH19 0 genome.wustl.edu 37 X 99662492 99662492 + Silent SNP G G A TCGA-AB-2819-03B-01W-0728-08 TCGA-AB-2819-11B-01W-0728-08 G G G A G G Verified Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq 1 dbGAP Illumina HiSeq 7ccedb6e-e411-404a-8441-2330d1f91013 bbc7cf39-e89a-4933-ba26-7cce5c47de87 X 99549148 99549148 G A SNP PCDH19 NM_001105243.1 human genbank 54_36p -1 validated silent c.1104 p.I368 0.920 HMMPfam_Cadherin,superfamily_Cadherin HMMPfam_Cadherin,HMMSmart_CA,PatternScan_CADHERIN_1,HMMPfam_Cadherin_2,superfamily_Cadherin - no_errors 7 0 0.00 21 6 22.22 NA NA NA +RGAG1 0 genome.wustl.edu 37 X 109697079 109697079 + Silent SNP C C A TCGA-AB-2819-03B-01W-0728-08 TCGA-AB-2819-11B-01W-0728-08 C C C A C C Verified Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq 1 dbGAP Illumina HiSeq 7ccedb6e-e411-404a-8441-2330d1f91013 bbc7cf39-e89a-4933-ba26-7cce5c47de87 X 109583735 109583735 C A SNP RGAG1 NM_020769.1 human genbank 54_36p +1 provisional silent c.3234 p.G1078 0.000 NULL HMMPfam_Retrotrans_gag - no_errors 31 0 0.00 103 75 42.13 NA NA NA +HSPG2 0 genome.wustl.edu 37 1 22178676 22178676 + Missense_Mutation SNP C C T TCGA-AB-2819-03B-01W-0728-08 TCGA-AB-2819-11B-01W-0728-08 C C C T C C Verified Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq 1 dbGAP Illumina HiSeq 7ccedb6e-e411-404a-8441-2330d1f91013 bbc7cf39-e89a-4933-ba26-7cce5c47de87 1 22051263 22051263 C T SNP HSPG2 NM_005529.5 human genbank 54_36p -1 validated missense c.6775 p.G2259S 0.999 HMMSmart_SM00408,HMMSmart_SM00409,superfamily_Concanavalin A-like lectins/glucanases,HMMPfam_I-set,superfamily_Immunoglobulin HMMPfam_Laminin_B,HMMPfam_SEA,HMMSmart_SM00200,HMMSmart_SM00282,HMMSmart_SM00179,HMMPfam_Laminin_EGF,HMMSmart_SM00180,PatternScan_EGF_LAM_1,HMMPfam_Ldl_recept_a,HMMSmart_SM00192,PatternScan_LDLRA_1,superfamily_LDL receptor-like module,HMMSmart_SM00406,HMMSmart_SM00408,HMMSmart_SM00409,HMMPfam_EGF,HMMSmart_SM00181,superfamily_Concanavalin A-like lectins/glucanases,HMMPfam_Laminin_G_1,HMMPfam_Laminin_G_2,PatternScan_EGF_1,PatternScan_EGF_2,HMMPfam_I-set,HMMPfam_V-set,HMMPfam_ig,HMMSmart_SM00281,superfamily_Immunoglobulin,superfamily_EGF/Laminin - no_errors 14 0 0.00 45 38 44.71 41 22 34.92 +RGL1 0 genome.wustl.edu 37 1 183895310 183895310 + Missense_Mutation SNP C C T TCGA-AB-2819-03B-01W-0728-08 TCGA-AB-2819-11B-01W-0728-08 C C C T C C Verified Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq 1 dbGAP Illumina HiSeq 7ccedb6e-e411-404a-8441-2330d1f91013 bbc7cf39-e89a-4933-ba26-7cce5c47de87 1 182161933 182161933 C T SNP RGL1 NM_015149.3 human genbank 54_36p +1 validated missense c.2296 p.R766C 1.000 HMMPfam_RA,HMMSmart_SM00314,superfamily_Ubiquitin-like HMMPfam_RA,HMMSmart_SM00314,HMMPfam_RasGEF_N,HMMSmart_SM00229,HMMPfam_RasGEF,HMMSmart_SM00147,superfamily_Ras GEF,PatternScan_RASGEF,superfamily_Ubiquitin-like - no_errors 53 0 0.00 149 101 40.08 6 0 0.00 +MSH6 0 genome.wustl.edu 37 2 48027540 48027540 + Silent SNP C C T TCGA-AB-2819-03B-01W-0728-08 TCGA-AB-2819-11B-01W-0728-08 C C C T C C Verified Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq 1 dbGAP Illumina HiSeq 7ccedb6e-e411-404a-8441-2330d1f91013 bbc7cf39-e89a-4933-ba26-7cce5c47de87 2 47881044 47881044 C T SNP MSH6 NM_000179.2 human genbank 54_36p +1 reviewed silent c.2418 p.S806 0.392 HMMPfam_MutS_III,HMMSmart_SM00533,superfamily_DNA repair protein MutS domain III HMMPfam_PWWP,HMMSmart_SM00293,HMMPfam_MutS_V,HMMSmart_SM00534,PatternScan_DNA_MISMATCH_REPAIR_2,HMMPfam_MutS_I,HMMPfam_MutS_III,HMMSmart_SM00533,superfamily_DNA repair protein MutS domain III,HMMPfam_MutS_II,HMMPfam_MutS_IV,superfamily_DNA repair protein MutS domain I,superfamily_P-loop containing nucleoside triphosphate hydrolases,superfamily_Tudor/PWWP/MBT - no_errors 59 0 0.00 169 132 43.56 44 79 64.23 +EHHADH 0 genome.wustl.edu 37 3 184910353 184910353 + Silent SNP T T C TCGA-AB-2819-03B-01W-0728-08 TCGA-AB-2819-11B-01W-0728-08 T T T C T T Verified Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq 1 dbGAP Illumina HiSeq 7ccedb6e-e411-404a-8441-2330d1f91013 bbc7cf39-e89a-4933-ba26-7cce5c47de87 3 186393047 186393047 T C SNP EHHADH NM_001966.2 human genbank 54_36p -1 validated silent c.1833 p.P611 0.013 superfamily_6DGDH_C_like HMMPfam_ECH,HMMPfam_3HCDH,HMMPfam_3HCDH_N,PatternScan_3HCDH,superfamily_6DGDH_C_like,superfamily_NAD(P)-bd,PatternScan_ENOYL_COA_HYDRATASE,superfamily_SSF52096 - no_errors 67 0 0.00 161 92 35.38 13 9 40.91 +TRA2B 0 genome.wustl.edu 37 3 185643273 185643273 + Silent SNP G G A TCGA-AB-2819-03B-01W-0728-08 TCGA-AB-2819-11B-01W-0728-08 G G G A G G Verified Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq 1 dbGAP Illumina HiSeq 7ccedb6e-e411-404a-8441-2330d1f91013 bbc7cf39-e89a-4933-ba26-7cce5c47de87 3 187125967 187125967 G A SNP TRA2B NM_004593.2 human genbank 54_36p -1 validated silent c.312 p.R104 1.000 superfamily_RNA-binding domain RBD HMMPfam_RRM_1,HMMSmart_SM00360,superfamily_RNA-binding domain RBD - no_errors 43 0 0.00 116 87 42.65 214 226 51.36 +KIT 0 genome.wustl.edu 37 4 55589771 55589771 + Missense_Mutation SNP A A C TCGA-AB-2819-03B-01W-0728-08 TCGA-AB-2819-11B-01W-0728-08 A A A C A A Verified Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq 1 dbGAP Illumina HiSeq 7ccedb6e-e411-404a-8441-2330d1f91013 bbc7cf39-e89a-4933-ba26-7cce5c47de87 4 55284528 55284528 A C SNP KIT NM_000222.2 human genbank 54_36p +1 reviewed missense c.1253 p.Y418S 0.002 NULL HMMPfam_Pkinase_Tyr,HMMSmart_TyrKc,PatternScan_RECEPTOR_TYR_KIN_III,HMMSmart_IGc2,HMMSmart_IG,PatternScan_PROTEIN_KINASE_TYR,superfamily_Kinase_like,HMMPfam_ig,PatternScan_PROTEIN_KINASE_ATP,superfamily_SSF48726 - no_errors 30 0 0.00 104 42 28.00 176 0 0.00 +PCDHB3 0 genome.wustl.edu 37 5 140480895 140480895 + Missense_Mutation SNP C C T TCGA-AB-2819-03B-01W-0728-08 TCGA-AB-2819-11B-01W-0728-08 C C C T C C Verified Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq 1 dbGAP Illumina HiSeq 7ccedb6e-e411-404a-8441-2330d1f91013 bbc7cf39-e89a-4933-ba26-7cce5c47de87 5 140461079 140461079 C T SNP PCDHB3 NM_018937.2 human genbank 54_36p +1 reviewed missense c.662 p.P221L 0.028 HMMPfam_Cadherin,HMMSmart_SM00112,superfamily_Cadherin-like HMMPfam_Cadherin,HMMSmart_SM00112,PatternScan_CADHERIN_1,HMMPfam_Cadherin_2,superfamily_Cadherin-like - no_errors 19 0 0.00 62 30 32.26 NA NA NA +HDAC3 0 genome.wustl.edu 37 5 141009284 141009284 + Missense_Mutation SNP T T C TCGA-AB-2819-03B-01W-0728-08 TCGA-AB-2819-11B-01W-0728-08 T T T C T T Verified Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq 1 dbGAP Illumina HiSeq 7ccedb6e-e411-404a-8441-2330d1f91013 bbc7cf39-e89a-4933-ba26-7cce5c47de87 5 140989468 140989468 T C SNP HDAC3 NM_003883.3 human genbank 54_36p -1 reviewed missense c.443 p.N148S 1.000 HMMPfam_Hist_deacetyl,superfamily_Arginase/deacetylase HMMPfam_Hist_deacetyl,superfamily_Arginase/deacetylase - no_errors 82 0 0.00 87 66 42.31 31 16 34.04 +PDGFRB 0 genome.wustl.edu 37 5 149504392 149504392 + Missense_Mutation SNP G G A TCGA-AB-2819-03B-01W-0728-08 TCGA-AB-2819-11B-01W-0728-08 G G G A G G Verified Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq 1 dbGAP Illumina HiSeq 7ccedb6e-e411-404a-8441-2330d1f91013 bbc7cf39-e89a-4933-ba26-7cce5c47de87 5 149484585 149484585 G A SNP PDGFRB NM_002609.3 human genbank 54_36p -1 reviewed missense c.1810 p.R604C 1.000 HMMPfam_Pkinase_Tyr,HMMSmart_TyrKc,superfamily_Kinase_like HMMPfam_Pkinase_Tyr,HMMSmart_TyrKc,PatternScan_RECEPTOR_TYR_KIN_III,HMMSmart_IGc2,HMMSmart_IG,PatternScan_PROTEIN_KINASE_TYR,superfamily_Kinase_like,HMMPfam_ig,PatternScan_PROTEIN_KINASE_ATP,superfamily_SSF48726 - no_errors 12 0 0.00 34 19 35.19 7 4 36.36 +ADAM19 0 genome.wustl.edu 37 5 156920098 156920098 + Missense_Mutation SNP G G T TCGA-AB-2819-03B-01W-0728-08 TCGA-AB-2819-11B-01W-0728-08 G G G T G G Verified Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq 1 dbGAP Illumina HiSeq 7ccedb6e-e411-404a-8441-2330d1f91013 bbc7cf39-e89a-4933-ba26-7cce5c47de87 5 156852676 156852676 G T SNP ADAM19 NM_023038.3 human genbank 54_36p -1 reviewed missense c.1795 p.H599N 0.000 NULL NULL - pseudogene:no_stop_codon:bad_bp_length_for_coding_region 38 0 0.00 178 96 34.66 3 0 0.00 +HYAL4 0 genome.wustl.edu 37 7 123509086 123509086 + Missense_Mutation SNP C C G TCGA-AB-2819-03B-01W-0728-08 TCGA-AB-2819-11B-01W-0728-08 C C C G C C Verified Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq 1 dbGAP Illumina HiSeq 7ccedb6e-e411-404a-8441-2330d1f91013 bbc7cf39-e89a-4933-ba26-7cce5c47de87 7 123296322 123296322 C G SNP HYAL4 NM_012269.2 human genbank 54_36p +1 reviewed missense c.759 p.N253K 0.993 HMMPfam_Glyco_hydro_56,superfamily_Glyco_hydro_cat HMMPfam_Glyco_hydro_56,HMMSmart_EGF,PatternScan_EGF_1,PatternScan_EGF_2,superfamily_Glyco_hydro_cat - no_errors 52 0 0.00 129 79 37.80 NA NA NA +PRUNE2 0 genome.wustl.edu 37 9 79320738 79320738 + Missense_Mutation SNP C C T TCGA-AB-2819-03B-01W-0728-08 TCGA-AB-2819-11B-01W-0728-08 C C C T C C Verified Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq 1 dbGAP Illumina HiSeq 7ccedb6e-e411-404a-8441-2330d1f91013 bbc7cf39-e89a-4933-ba26-7cce5c47de87 9 78510558 78510558 C T SNP PRUNE2 ENST00000376718 human ensembl 54_36p -1 known missense c.5375 p.R1792Q 0.001 NULL HMMSmart_SM00516,superfamily_CRAL/TRIO domain,superfamily_Ferritin-like - no_errors 35 0 0.00 126 52 29.05 NA NA NA +LOC400011 0 genome.wustl.edu 37 12 16552883 16552883 + RNA SNP G G T TCGA-AB-2819-03B-01W-0728-08 TCGA-AB-2819-11B-01W-0728-08 G G G T G G Verified Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq 1 dbGAP Illumina HiSeq 7ccedb6e-e411-404a-8441-2330d1f91013 bbc7cf39-e89a-4933-ba26-7cce5c47de87 12 16444150 16444150 G T SNP LOC400011 XR_016968.2 human genbank 54_36p -1 model rna NULL NULL 0.986 - - - pseudogene 59 0 0.00 159 96 37.50 87 0 0.00 +LOC727895 0 genome.wustl.edu 37 13 19957134 19957134 + Missense_Mutation SNP G G A TCGA-AB-2819-03B-01W-0728-08 TCGA-AB-2819-11B-01W-0728-08 G G G A G G Verified Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq 1 dbGAP Illumina HiSeq 7ccedb6e-e411-404a-8441-2330d1f91013 bbc7cf39-e89a-4933-ba26-7cce5c47de87 13 18855134 18855134 G A SNP LOC727895 XM_001125866.2 human genbank 54_36p +1 model missense c.523 p.A175T 0.758 superfamily_Cyclin-like superfamily_Cyclin-like - no_errors 16 0 0.00 79 48 36.92 4 0 0.00 +POSTN 0 genome.wustl.edu 37 13 38156628 38156628 + Missense_Mutation SNP G G A TCGA-AB-2819-03B-01W-0728-08 TCGA-AB-2819-11B-01W-0728-08 G G G A G G Verified Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq 1 dbGAP Illumina HiSeq 7ccedb6e-e411-404a-8441-2330d1f91013 bbc7cf39-e89a-4933-ba26-7cce5c47de87 13 37054628 37054628 G A SNP POSTN NM_006475.1 human genbank 54_36p -1 validated missense c.1267 p.R423C 1.000 HMMPfam_Fasciclin,HMMSmart_SM00554,superfamily_FAS1 domain HMMPfam_Fasciclin,HMMSmart_SM00554,superfamily_FAS1 domain,HMMPfam_EMI - no_errors 44 0 0.00 94 54 35.76 NA NA NA +DSCAM 0 genome.wustl.edu 37 21 41648087 41648087 + Missense_Mutation SNP G G A TCGA-AB-2819-03B-01W-0728-08 TCGA-AB-2819-11B-01W-0728-08 G G G A G G Verified Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq 1 dbGAP Illumina HiSeq 7ccedb6e-e411-404a-8441-2330d1f91013 bbc7cf39-e89a-4933-ba26-7cce5c47de87 21 40569957 40569957 G A SNP DSCAM NM_001389.3 human genbank 54_36p -1 validated missense c.2293 p.L765F 1.000 HMMSmart_SM00406,HMMSmart_SM00408,HMMSmart_SM00409,HMMPfam_I-set,superfamily_Immunoglobulin HMMSmart_SM00406,HMMSmart_SM00408,HMMSmart_SM00409,HMMPfam_fn3,HMMSmart_SM00060,superfamily_Fibronectin type III,HMMPfam_I-set,HMMPfam_ig,superfamily_Immunoglobulin - no_errors 27 0 0.00 68 41 37.27 NA NA NA +LOC100131656 0 genome.wustl.edu 37 X 40750752 40750752 + RNA SNP G G A TCGA-AB-2820-03B-01W-0728-08 TCGA-AB-2820-11B-01W-0728-08 G G G A G G Verified Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq 1 dbGAP Illumina HiSeq 19900d81-576b-44c1-975d-a874c0b19b15 2f7227c5-2077-405c-ac7c-6589765d1f0b X 40635696 40635696 G A SNP LOC100131656 XR_037406.1 human genbank 54_36p -1 model rna NULL NULL 1.000 - - - pseudogene 59 3 4.84 40 80 65.57 1 0 0.00 +LRIF1 0 genome.wustl.edu 37 1 111492550 111492550 + Missense_Mutation SNP C C G TCGA-AB-2820-03B-01W-0728-08 TCGA-AB-2820-11B-01W-0728-08 C C C G C C Verified Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq 1 dbGAP Illumina HiSeq 19900d81-576b-44c1-975d-a874c0b19b15 2f7227c5-2077-405c-ac7c-6589765d1f0b 1 111294073 111294073 C G SNP C1orf103 NM_018372.1 human genbank 54_36p -1 validated missense c.1792 p.D598H 0.000 NULL NULL - no_errors 217 1 0.46 354 175 32.77 23 13 36.11 +IL1RL2 0 genome.wustl.edu 37 2 102855691 102855691 + Missense_Mutation SNP C C T TCGA-AB-2820-03B-01W-0728-08 TCGA-AB-2820-11B-01W-0728-08 C C C T C C Verified Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq 1 dbGAP Illumina HiSeq 19900d81-576b-44c1-975d-a874c0b19b15 2f7227c5-2077-405c-ac7c-6589765d1f0b 2 102222123 102222123 C T SNP IL1RL2 NM_003854.2 human genbank 54_36p +1 reviewed missense c.1718 p.T573M 0.000 NULL HMMPfam_TIR,HMMSmart_TIR,superfamily_TIR,HMMSmart_IG,HMMPfam_ig,superfamily_SSF48726 - no_errors 126 2 1.56 98 50 33.56 NA NA NA +MFN1 0 genome.wustl.edu 37 3 179080206 179080206 + Missense_Mutation SNP G G A TCGA-AB-2820-03B-01W-0728-08 TCGA-AB-2820-11B-01W-0728-08 G G G A G G Verified Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq 1 dbGAP Illumina HiSeq 19900d81-576b-44c1-975d-a874c0b19b15 2f7227c5-2077-405c-ac7c-6589765d1f0b 3 180562900 180562900 G A SNP MFN1 NM_033540.2 human genbank 54_36p +1 reviewed missense c.472 p.V158I 1.000 HMMPfam_Dynamin_N,superfamily_P-loop containing nucleoside triphosphate hydrolases HMMPfam_Dynamin_N,HMMPfam_Fzo_mitofusin,superfamily_P-loop containing nucleoside triphosphate hydrolases - no_errors 123 2 1.60 105 74 40.66 14 15 50.00 +CEP170P1 0 genome.wustl.edu 37 4 54736 54736 + RNA SNP G G A TCGA-AB-2820-03B-01W-0728-08 TCGA-AB-2820-11B-01W-0728-08 G G G A G G Verified Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq 1 dbGAP Illumina HiSeq 19900d81-576b-44c1-975d-a874c0b19b15 2f7227c5-2077-405c-ac7c-6589765d1f0b 4 44736 44736 G A SNP CEP170L XR_042173.2 human genbank 54_36p +1 model rna NULL NULL 0.002 - - - pseudogene 313 38 10.80 577 95 14.01 7 0 0.00 +GPR125 0 genome.wustl.edu 37 4 22389827 22389827 + Missense_Mutation SNP G G A TCGA-AB-2820-03B-01W-0728-08 TCGA-AB-2820-11B-01W-0728-08 G G G A G G Verified Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq 1 dbGAP Illumina HiSeq 19900d81-576b-44c1-975d-a874c0b19b15 2f7227c5-2077-405c-ac7c-6589765d1f0b 4 21998925 21998925 G A SNP GPR125 NM_145290.2 human genbank 54_36p -1 validated missense c.3467 p.A1156V 0.998 NULL HMMPfam_GPS,HMMSmart_SM00303,HMMPfam_LRRCT,HMMSmart_SM00082,HMMPfam_7tm_2,HMMPfam_LRR_1,HMMSmart_SM00369,HMMSmart_SM00409,superfamily_Hormone receptor domain (HRM Pfam 02793),superfamily_Immunoglobulin,superfamily_L domain-like - no_errors 92 1 1.08 131 115 46.00 1 3 75.00 +GALNTL6 0 genome.wustl.edu 37 4 172735732 172735732 + Missense_Mutation SNP A A G TCGA-AB-2820-03B-01W-0728-08 TCGA-AB-2820-11B-01W-0728-08 A A A G A A Verified Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq 1 dbGAP Illumina HiSeq 19900d81-576b-44c1-975d-a874c0b19b15 2f7227c5-2077-405c-ac7c-6589765d1f0b 4 172972307 172972307 A G SNP GALNTL6 NM_001034845.2 human genbank 54_36p +1 validated missense c.1 p.M1V 1.000 NULL HMMPfam_Ricin_B_lectin,HMMSmart_SM00458,HMMPfam_Glycos_transf_2,superfamily_Ricin B-like lectins,superfamily_Nucleotide-diphospho-sugar transferases - no_errors 33 0 0.00 49 44 47.31 NA NA NA +TTC26 0 genome.wustl.edu 37 7 138853105 138853105 + Nonsense_Mutation SNP G G T TCGA-AB-2820-03B-01W-0728-08 TCGA-AB-2820-11B-01W-0728-08 G G G T G G Verified Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq 1 dbGAP Illumina HiSeq 19900d81-576b-44c1-975d-a874c0b19b15 2f7227c5-2077-405c-ac7c-6589765d1f0b 7 138503645 138503645 G T SNP TTC26 NM_024926.1 human genbank 54_36p +1 validated nonsense c.967 p.G323* 1.000 superfamily_SSF48452 superfamily_SSF48452 - no_errors 191 5 2.54 104 104 49.76 NA NA NA +CSMD1 0 genome.wustl.edu 37 8 3200835 3200835 + Missense_Mutation SNP A A T TCGA-AB-2820-03B-01W-0728-08 TCGA-AB-2820-11B-01W-0728-08 A A A T A A Verified Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq 1 dbGAP Illumina HiSeq 19900d81-576b-44c1-975d-a874c0b19b15 2f7227c5-2077-405c-ac7c-6589765d1f0b 8 3188242 3188242 A T SNP CSMD1 NM_033225.4 human genbank 54_36p -1 validated missense c.3616 p.F1206I 0.980 NULL HMMPfam_Sushi,HMMSmart_SM00032,HMMPfam_CUB,HMMSmart_SM00042,superfamily_Spermadhesin CUB domain,superfamily_Complement control module/SCR domain - pseudogene:no_stop_codon:bad_bp_length_for_coding_region 110 6 5.04 94 140 57.85 NA NA NA +KCNK9 0 genome.wustl.edu 37 8 140630863 140630863 + Silent SNP G G T TCGA-AB-2820-03B-01W-0728-08 TCGA-AB-2820-11B-01W-0728-08 G G G T G G Verified Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq 1 dbGAP Illumina HiSeq 19900d81-576b-44c1-975d-a874c0b19b15 2f7227c5-2077-405c-ac7c-6589765d1f0b 8 140700045 140700045 G T SNP KCNK9 NM_016601.2 human genbank 54_36p -1 reviewed silent c.763 p.R255 0.977 superfamily_SSF81324 HMMPfam_Ion_trans_2,superfamily_SSF81324 - no_errors 88 0 0.00 72 37 33.64 NA NA NA +SLC18A2 0 genome.wustl.edu 37 10 119003781 119003781 + Missense_Mutation SNP G G A TCGA-AB-2820-03B-01W-0728-08 TCGA-AB-2820-11B-01W-0728-08 G G G A G G Verified Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq 1 dbGAP Illumina HiSeq 19900d81-576b-44c1-975d-a874c0b19b15 2f7227c5-2077-405c-ac7c-6589765d1f0b 10 118993771 118993771 G A SNP SLC18A2 NM_003054.3 human genbank 54_36p +1 provisional missense c.421 p.V141I 0.971 HMMPfam_MFS_1,superfamily_MFS general substrate transporter HMMPfam_MFS_1,superfamily_MFS general substrate transporter - no_errors 90 2 2.17 54 70 55.56 0 3 100.00 +IPO7 0 genome.wustl.edu 37 11 9455150 9455150 + Missense_Mutation SNP G G A TCGA-AB-2820-03B-01W-0728-08 TCGA-AB-2820-11B-01W-0728-08 G G G A G G Verified Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq 1 dbGAP Illumina HiSeq 19900d81-576b-44c1-975d-a874c0b19b15 2f7227c5-2077-405c-ac7c-6589765d1f0b 11 9411726 9411726 G A SNP IPO7 NM_006391.2 human genbank 54_36p +1 reviewed missense c.1915 p.V639I 1.000 superfamily_ARM-type_fold HMMPfam_IBN_N,superfamily_ARM-type_fold - no_errors 66 2 2.94 89 186 67.39 17 45 72.58 +SUDS3 0 genome.wustl.edu 37 12 118841283 118841283 + Missense_Mutation SNP C C A TCGA-AB-2820-03B-01W-0728-08 TCGA-AB-2820-11B-01W-0728-08 C C C A C C Verified Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq 1 dbGAP Illumina HiSeq 19900d81-576b-44c1-975d-a874c0b19b15 2f7227c5-2077-405c-ac7c-6589765d1f0b 12 117325666 117325666 C A SNP SUDS3 NM_022491.2 human genbank 54_36p +1 validated missense c.764 p.A255D 1.000 NULL HMMPfam_Sds3 - no_errors 99 0 0.00 117 117 50.00 11 5 31.25 +TUBA3C 0 genome.wustl.edu 37 13 19751584 19751584 + Missense_Mutation SNP G G A TCGA-AB-2820-03B-01W-0728-08 TCGA-AB-2820-11B-01W-0728-08 G G G A G G Verified Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq 1 dbGAP Illumina HiSeq 19900d81-576b-44c1-975d-a874c0b19b15 2f7227c5-2077-405c-ac7c-6589765d1f0b 13 18649584 18649584 G A SNP TUBA3C NM_006001.1 human genbank 54_36p -1 reviewed missense c.539 p.A180V 1.000 HMMPfam_Tubulin,superfamily_Tubulin nucleotide-binding domain-like HMMPfam_Tubulin,superfamily_Tubulin C-terminal domain-like,PatternScan_TUBULIN,HMMPfam_Tubulin_C,superfamily_Tubulin nucleotide-binding domain-like - no_errors 66 1 1.49 98 28 22.22 NA NA NA +TGM5 0 genome.wustl.edu 37 15 43525775 43525775 + Silent SNP G G A TCGA-AB-2820-03B-01W-0728-08 TCGA-AB-2820-11B-01W-0728-08 G G G A G G Verified Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq 1 dbGAP Illumina HiSeq 19900d81-576b-44c1-975d-a874c0b19b15 2f7227c5-2077-405c-ac7c-6589765d1f0b 15 41313067 41313067 G A SNP TGM5 NM_201631.2 human genbank 54_36p -1 validated silent c.1986 p.L662 0.927 HMMPfam_Transglut_C,superfamily_Transglutaminase two C-terminal domains HMMPfam_Transglut_N,HMMPfam_Transglut_core,HMMSmart_SM00460,HMMPfam_Transglut_C,superfamily_Transglutaminase two C-terminal domains,PatternScan_TRANSGLUTAMINASES,superfamily_E set domains,superfamily_Cysteine proteinases - no_errors 111 0 0.00 98 68 40.96 NA NA NA +SUZ12 0 genome.wustl.edu 37 17 30267338 30267338 + Missense_Mutation SNP G G A TCGA-AB-2820-03B-01W-0728-08 TCGA-AB-2820-11B-01W-0728-08 G G G A G G Verified Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq 1 dbGAP Illumina HiSeq 19900d81-576b-44c1-975d-a874c0b19b15 2f7227c5-2077-405c-ac7c-6589765d1f0b 17 27291451 27291451 G A SNP SUZ12 NM_015355.2 human genbank 54_36p +1 reviewed missense c.308 p.R103Q 1.000 NULL PatternScan_ZINC_FINGER_C2H2_1,HMMSmart_ZnF_C2H2,HMMPfam_VEFS-Box - no_errors 98 0 0.00 30 36 54.55 19 11 36.67 +KIAA1683 0 genome.wustl.edu 37 19 18368587 18368587 + Silent SNP G G T TCGA-AB-2820-03B-01W-0728-08 TCGA-AB-2820-11B-01W-0728-08 G G G T G G Verified Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq 1 dbGAP Illumina HiSeq 19900d81-576b-44c1-975d-a874c0b19b15 2f7227c5-2077-405c-ac7c-6589765d1f0b 19 18229587 18229587 G T SNP KIAA1683 NM_025249.1 human genbank 54_36p -1 validated silent c.2946 p.A982 0.384 HMMSmart_SM00015,superfamily_P-loop containing nucleoside triphosphate hydrolases HMMPfam_IQ,HMMSmart_SM00015,superfamily_P-loop containing nucleoside triphosphate hydrolases - no_errors 11 0 0.00 12 9 42.86 18 6 25.00 +DAB2 0 genome.wustl.edu 37 5 39383029 39383030 + Frame_Shift_Del DEL AC AC - TCGA-AB-2820-03B-01W-0728-08 TCGA-AB-2820-11B-01W-0728-08 AC AC AC - AC AC Verified Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq 1 dbGAP Illumina HiSeq 19900d81-576b-44c1-975d-a874c0b19b15 2f7227c5-2077-405c-ac7c-6589765d1f0b 5 39418786 39418787 AC - DEL DAB2 NM_001343.2 human genbank 54_36p -1 validated frame_shift_del c.1032_1031 p.G344fs 0.972:1.000 NULL PatternScan_PFKB_KINASES_1,HMMPfam_PID,HMMSmart_SM00462,superfamily_PH domain-like - no_errors 0 0 0.00 0 76 40.43 0 0 0.00 +TP53 0 genome.wustl.edu 37 17 7578181 7578182 + Frame_Shift_Ins INS - - GCGGCTC TCGA-AB-2820-03B-01W-0728-08 TCGA-AB-2820-11B-01W-0728-08 - - - GCGGCTC - - Verified Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq 1 dbGAP Illumina HiSeq 19900d81-576b-44c1-975d-a874c0b19b15 2f7227c5-2077-405c-ac7c-6589765d1f0b 17 7518906 7518907 - GCGGCTC INS TP53 NM_000546.4 human genbank 54_36p -1 reviewed frame_shift_ins c.668_667 p.P223fs 0.987:0.989 superfamily_p53-like transcription factors,HMMPfam_P53 PatternScan_P53,superfamily_p53-like transcription factors,HMMPfam_P53_tetramer,superfamily_p53 tetramerization domain,HMMPfam_P53,HMMPfam_P53_TAD - no_errors NA NA NA NA NA NA NA NA NA +GALNT2 0 genome.wustl.edu 37 1 230415050 230415050 + Missense_Mutation SNP A A C TCGA-AB-2821-03B-01W-0728-08 TCGA-AB-2821-11B-01W-0728-08 A A A C A A Verified Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq 1 dbGAP Illumina HiSeq 56d41ca3-78f9-4a0d-801c-1ecf4f1be249 e031e4fa-53fd-4e94-8459-7effb8460789 1 228481673 228481673 A C SNP GALNT2 NM_004481.3 human genbank 54_36p +1 reviewed missense c.1562 p.K521T 1.000 HMMPfam_Ricin_B_lectin,HMMSmart_SM00458,superfamily_Ricin B-like lectins HMMPfam_Ricin_B_lectin,HMMSmart_SM00458,HMMPfam_Glycos_transf_2,superfamily_Ricin B-like lectins,superfamily_Nucleotide-diphospho-sugar transferases - no_errors 36 2 5.26 91 61 39.87 48 35 42.17 +MFSD6 0 genome.wustl.edu 37 2 191300983 191300983 + Missense_Mutation SNP T T G TCGA-AB-2821-03B-01W-0728-08 TCGA-AB-2821-11B-01W-0728-08 T T T G T T Verified Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq 1 dbGAP Illumina HiSeq 56d41ca3-78f9-4a0d-801c-1ecf4f1be249 e031e4fa-53fd-4e94-8459-7effb8460789 2 191009228 191009228 T G SNP MFSD6 NM_017694.3 human genbank 54_36p +1 validated missense c.228 p.F76L 1.000 HMMPfam_MFS_1,superfamily_MFS_gen_substrate_transporter HMMPfam_MFS_1,superfamily_MFS_gen_substrate_transporter - no_errors 99 0 0.00 161 101 38.40 25 29 52.73 +IDH1 0 genome.wustl.edu 37 2 209113113 209113113 + Missense_Mutation SNP G G A rs121913499 TCGA-AB-2821-03B-01W-0728-08 TCGA-AB-2821-11B-01W-0728-08 G G G A G G Verified Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq 1 dbGAP Illumina HiSeq 56d41ca3-78f9-4a0d-801c-1ecf4f1be249 e031e4fa-53fd-4e94-8459-7effb8460789 2 208821358 208821358 G A SNP IDH1 NM_005896.2 human genbank 54_36p -1 reviewed missense c.394 p.R132C 1.000 HMMPfam_Iso_dh,superfamily_Isocitrate/Isopropylmalate dehydrogenase-like HMMPfam_Iso_dh,PatternScan_IDH_IMDH,superfamily_Isocitrate/Isopropylmalate dehydrogenase-like - no_errors 33 0 0.00 93 55 36.67 81 42 34.15 +ATG16L1 0 genome.wustl.edu 37 2 234201946 234201946 + Missense_Mutation SNP T T A TCGA-AB-2821-03B-01W-0728-08 TCGA-AB-2821-11B-01W-0728-08 T T T A T T Verified Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq 1 dbGAP Illumina HiSeq 56d41ca3-78f9-4a0d-801c-1ecf4f1be249 e031e4fa-53fd-4e94-8459-7effb8460789 2 233866685 233866685 T A SNP ATG16L1 NM_030803.3 human genbank 54_36p +1 validated missense c.1673 p.L558Q 0.994 HMMSmart_SM00320,superfamily_WD40 repeat-like,HMMPfam_WD40 HMMSmart_SM00320,superfamily_WD40 repeat-like,HMMPfam_ATG16,PatternScan_WD_REPEATS_1,HMMPfam_WD40 - no_errors 262 0 0.00 483 280 36.46 23 10 30.30 +BOD1L 0 genome.wustl.edu 37 4 13615843 13615843 + Missense_Mutation SNP T T C TCGA-AB-2821-03B-01W-0728-08 TCGA-AB-2821-11B-01W-0728-08 T T T C T T Verified Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq 1 dbGAP Illumina HiSeq 56d41ca3-78f9-4a0d-801c-1ecf4f1be249 e031e4fa-53fd-4e94-8459-7effb8460789 4 13224941 13224941 T C SNP BOD1L NM_148894.2 human genbank 54_36p -1 validated missense c.1151 p.K384R 0.002 superfamily_SSF81995 HMMPfam_AT_hook,HMMSmart_AT_hook,superfamily_SSF81995 - no_errors 74 0 0.00 154 90 36.59 30 37 55.22 +FAT2 0 genome.wustl.edu 37 5 150928964 150928964 + Missense_Mutation SNP C C T TCGA-AB-2821-03B-01W-0728-08 TCGA-AB-2821-11B-01W-0728-08 C C C T C C Verified Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq 1 dbGAP Illumina HiSeq 56d41ca3-78f9-4a0d-801c-1ecf4f1be249 e031e4fa-53fd-4e94-8459-7effb8460789 5 150909157 150909157 C T SNP FAT2 NM_001447.2 human genbank 54_36p -1 reviewed missense c.4681 p.E1561K 1.000 HMMPfam_Cadherin,superfamily_Cadherin-like HMMSmart_SM00282,HMMSmart_SM00179,HMMPfam_Cadherin,HMMSmart_SM00112,PatternScan_CADHERIN_1,HMMPfam_EGF,HMMSmart_SM00181,superfamily_Concanavalin A-like lectins/glucanases,HMMPfam_Laminin_G_2,PatternScan_EGF_1,PatternScan_EGF_2,superfamily_Cadherin-like,superfamily_EGF/Laminin - no_errors 27 0 0.00 91 73 44.51 NA NA NA +SYNGAP1 0 genome.wustl.edu 37 6 33409387 33409387 + Silent SNP C C T TCGA-AB-2821-03B-01W-0728-08 TCGA-AB-2821-11B-01W-0728-08 C C C T C C Verified Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq 1 dbGAP Illumina HiSeq 56d41ca3-78f9-4a0d-801c-1ecf4f1be249 e031e4fa-53fd-4e94-8459-7effb8460789 6 33517365 33517365 C T SNP SYNGAP1 NM_006772.2 human genbank 54_36p +1 validated silent c.2100 p.P700 0.996 HMMSmart_SM00323,superfamily_GTPase activation domain GAP HMMPfam_C2,HMMSmart_SM00239,HMMSmart_SM00233,HMMPfam_RasGAP,HMMSmart_SM00323,PatternScan_RAS_GTPASE_ACTIV_1,superfamily_GTPase activation domain GAP,superfamily_C2 domain (Calcium/lipid-binding domain CaLB),superfamily_PH domain-like - no_errors 257 1 0.39 201 121 37.12 19 26 57.78 +RUNX1T1 0 genome.wustl.edu 37 8 93026825 93026825 + Silent SNP G G A TCGA-AB-2821-03B-01W-0728-08 TCGA-AB-2821-11B-01W-0728-08 G G G A G G Verified Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq 1 dbGAP Illumina HiSeq 56d41ca3-78f9-4a0d-801c-1ecf4f1be249 e031e4fa-53fd-4e94-8459-7effb8460789 8 93096001 93096001 G A SNP RUNX1T1 NM_175634.2 human genbank 54_36p -1 reviewed silent c.450 p.T150 0.845 HMMPfam_TAFH,HMMSmart_SM00549 HMMPfam_zf-MYND,PatternScan_ZF_MYND_1,HMMPfam_TAFH,HMMSmart_SM00549,HMMPfam_NHR2 - no_errors 184 0 0.00 348 176 33.46 1 0 0.00 +C10orf28 0 genome.wustl.edu 37 10 99968695 99968695 + Missense_Mutation SNP G G A TCGA-AB-2821-03B-01W-0728-08 TCGA-AB-2821-11B-01W-0728-08 G G G A G G Verified Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq 1 dbGAP Illumina HiSeq 56d41ca3-78f9-4a0d-801c-1ecf4f1be249 e031e4fa-53fd-4e94-8459-7effb8460789 10 99958685 99958685 G A SNP C10orf28 NM_014472.4 human genbank 54_36p +1 validated missense c.824 p.G275D 0.015 NULL NULL - no_errors 110 0 0.00 158 76 32.20 15 9 37.50 +OR8H2 0 genome.wustl.edu 37 11 55873034 55873034 + Silent SNP C C T TCGA-AB-2821-03B-01W-0728-08 TCGA-AB-2821-11B-01W-0728-08 C C C T C C Verified Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq 1 dbGAP Illumina HiSeq 56d41ca3-78f9-4a0d-801c-1ecf4f1be249 e031e4fa-53fd-4e94-8459-7effb8460789 11 55629610 55629610 C T SNP OR8H2 NM_001005200.1 human genbank 54_36p +1 provisional silent c.516 p.N172 0.025 HMMPfam_7tm_1,superfamily_SSF81321 HMMPfam_7tm_1,PatternScan_G_PROTEIN_RECEP_F1_1,superfamily_SSF81321 - no_errors 39 0 0.00 184 103 35.89 NA NA NA +NTRK3 0 genome.wustl.edu 37 15 88472471 88472471 + Missense_Mutation SNP A A G TCGA-AB-2821-03B-01W-0728-08 TCGA-AB-2821-11B-01W-0728-08 A A A G A A Verified Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq 1 dbGAP Illumina HiSeq 56d41ca3-78f9-4a0d-801c-1ecf4f1be249 e031e4fa-53fd-4e94-8459-7effb8460789 15 86273475 86273475 A G SNP NTRK3 NM_001012338.1 human genbank 54_36p -1 reviewed missense c.2084 p.I695T 1.000 HMMPfam_Pkinase_Tyr,HMMSmart_SM00219,HMMSmart_SM00220,superfamily_Protein kinase-like (PK-like) HMMPfam_LRRNT,HMMSmart_SM00013,HMMSmart_SM00082,HMMPfam_Pkinase_Tyr,HMMSmart_SM00219,HMMPfam_LRR_1,PatternScan_RECEPTOR_TYR_KIN_II,HMMSmart_SM00220,HMMSmart_SM00409,PatternScan_PROTEIN_KINASE_TYR,superfamily_Protein kinase-like (PK-like),HMMPfam_I-set,HMMPfam_ig,PatternScan_PROTEIN_KINASE_ATP,superfamily_Immunoglobulin,superfamily_L domain-like - no_errors 128 0 0.00 163 92 35.38 NA NA NA +IDH2 0 genome.wustl.edu 37 15 90631838 90631838 + Missense_Mutation SNP C C T rs121913503 TCGA-AB-2821-03B-01W-0728-08 TCGA-AB-2821-11B-01W-0728-08 C C C T C C Verified Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq 1 dbGAP Illumina HiSeq 56d41ca3-78f9-4a0d-801c-1ecf4f1be249 e031e4fa-53fd-4e94-8459-7effb8460789 15 88432842 88432842 C T SNP IDH2 NM_002168.2 human genbank 54_36p -1 reviewed missense c.515 p.R172K 1.000 HMMPfam_Iso_dh,superfamily_Isocitrate/Isopropylmalate dehydrogenase-like HMMPfam_Iso_dh,PatternScan_IDH_IMDH,superfamily_Isocitrate/Isopropylmalate dehydrogenase-like - no_errors 40 0 0.00 144 18 11.11 169 21 11.05 +ASXL1 0 genome.wustl.edu 37 20 31022712 31022712 + Nonsense_Mutation SNP C C T TCGA-AB-2821-03B-01W-0728-08 TCGA-AB-2821-11B-01W-0728-08 C C C T C C Verified Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq 1 dbGAP Illumina HiSeq 56d41ca3-78f9-4a0d-801c-1ecf4f1be249 e031e4fa-53fd-4e94-8459-7effb8460789 20 30486373 30486373 C T SNP ASXL1 NM_015338.4 human genbank 54_36p +1 reviewed nonsense c.2197 p.Q733* 0.002 NULL NULL - no_errors 8 0 0.00 105 44 28.95 47 35 42.68 +U2AF1 0 genome.wustl.edu 37 21 44514777 44514777 + Missense_Mutation SNP T T G TCGA-AB-2821-03B-01W-0728-08 TCGA-AB-2821-11B-01W-0728-08 T T T G T T Verified Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq 1 dbGAP Illumina HiSeq 56d41ca3-78f9-4a0d-801c-1ecf4f1be249 e031e4fa-53fd-4e94-8459-7effb8460789 21 43387846 43387846 T G SNP U2AF1 NM_001025203.1 human genbank 54_36p -1 reviewed missense c.470 p.Q157P 1.000 HMMPfam_zf-CCCH,HMMSmart_ZnF_C3H1 HMMPfam_RRM_1,HMMSmart_RRM,HMMPfam_zf-CCCH,HMMSmart_ZnF_C3H1,superfamily_SSF54928 - no_errors 22 0 0.00 69 54 43.55 35 48 57.83 +RUNX1 0 genome.wustl.edu 37 21 36252994 36252995 + Frame_Shift_Ins INS - - CC TCGA-AB-2821-03B-01W-0728-08 TCGA-AB-2821-11B-01W-0728-08 - - - CC - - Verified Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq 1 dbGAP Illumina HiSeq 56d41ca3-78f9-4a0d-801c-1ecf4f1be249 e031e4fa-53fd-4e94-8459-7effb8460789 21 35174864 35174865 - CC INS RUNX1 NM_001754.2 human genbank 54_36p -1 reviewed frame_shift_ins c.368_367 p.D123fs 0.999:1.000 superfamily_p53-like transcription factors,HMMPfam_Runt superfamily_p53-like transcription factors,HMMPfam_Runt,HMMPfam_RunxI - no_errors 35 0 0.00 68 29 29.90 144 74 33.94 +SMC1A 0 genome.wustl.edu 37 X 53436078 53436078 + Missense_Mutation SNP G G C TCGA-AB-2822-03D-01W-0755-09 TCGA-AB-2822-11D-01W-0755-09 G G G C G G Verified Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq 1 dbGAP Illumina HiSeq 68b67026-2f30-4839-8579-7a07341b8976 55451b4d-c9af-477d-acdd-d6749bf27f2f X 53452803 53452803 G C SNP SMC1A NM_006306.2 human genbank 54_36p -1 reviewed missense c.1460 p.A487G 1.000 HMMPfam_SMC_N,superfamily_SMC_hinge,superfamily_SSF52540 HMMPfam_SMC_N,HMMPfam_SMC_hinge,superfamily_SMC_hinge,superfamily_SSF52540 - no_errors 61 1 1.61 22 68 75.56 4 31 88.57 +MED12 0 genome.wustl.edu 37 X 70356168 70356168 + Nonsense_Mutation SNP G G A TCGA-AB-2822-03D-01W-0755-09 TCGA-AB-2822-11D-01W-0755-09 G G G A G G Verified Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq 1 dbGAP Illumina HiSeq 68b67026-2f30-4839-8579-7a07341b8976 55451b4d-c9af-477d-acdd-d6749bf27f2f X 70272893 70272893 G A SNP MED12 NM_005120.2 human genbank 54_36p +1 validated nonsense c.5063 p.W1688* 1.000 NULL HMMPfam_Med12 - no_errors 295 0 0.00 40 95 69.34 2 38 95.00 +UTS2 0 genome.wustl.edu 37 1 7913480 7913480 + Silent SNP G G A TCGA-AB-2822-03D-01W-0755-09 TCGA-AB-2822-11D-01W-0755-09 G G G A G G Verified Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq 1 dbGAP Illumina HiSeq 68b67026-2f30-4839-8579-7a07341b8976 55451b4d-c9af-477d-acdd-d6749bf27f2f 1 7836067 7836067 G A SNP UTS2 NM_021995.3 human genbank 54_36p -1 reviewed silent c.12 p.N4 0.000 NULL HMMPfam_Urotensin_II,PatternScan_UROTENSIN_II - no_errors 162 0 0.00 130 80 38.10 NA NA NA +DNMT3A 0 genome.wustl.edu 37 2 25467208 25467208 + Splice_Site SNP C C T TCGA-AB-2822-03D-01W-0755-09 TCGA-AB-2822-11D-01W-0755-09 C C C T C C Verified Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq 1 dbGAP Illumina HiSeq 68b67026-2f30-4839-8579-7a07341b8976 55451b4d-c9af-477d-acdd-d6749bf27f2f 2 25320712 25320712 C T SNP DNMT3A NM_022552.3 human genbank 54_36p -1 reviewed splice_site c.1668-1 e14-1 1.000 - - - no_errors 12 0 0.00 10 17 62.96 7 14 66.67 +R3HDM1 0 genome.wustl.edu 37 2 136409334 136409334 + Missense_Mutation SNP G G A TCGA-AB-2822-03D-01W-0755-09 TCGA-AB-2822-11D-01W-0755-09 G G G A G G Verified Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq 1 dbGAP Illumina HiSeq 68b67026-2f30-4839-8579-7a07341b8976 55451b4d-c9af-477d-acdd-d6749bf27f2f 2 136125804 136125804 G A SNP R3HDM1 NM_015361.2 human genbank 54_36p +1 provisional missense c.1655 p.S552N 1.000 NULL HMMPfam_R3H,HMMSmart_SM00393,superfamily_R3H domain - no_errors 147 1 0.68 145 79 34.96 15 23 60.53 +IDH1 0 genome.wustl.edu 37 2 209113113 209113113 + Missense_Mutation SNP G G A rs121913499 TCGA-AB-2822-03D-01W-0755-09 TCGA-AB-2822-11D-01W-0755-09 G G G A G G Verified Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq 1 dbGAP Illumina HiSeq 68b67026-2f30-4839-8579-7a07341b8976 55451b4d-c9af-477d-acdd-d6749bf27f2f 2 208821358 208821358 G A SNP IDH1 NM_005896.2 human genbank 54_36p -1 reviewed missense c.394 p.R132C 1.000 HMMPfam_Iso_dh,superfamily_Isocitrate/Isopropylmalate dehydrogenase-like HMMPfam_Iso_dh,PatternScan_IDH_IMDH,superfamily_Isocitrate/Isopropylmalate dehydrogenase-like - no_errors 46 0 0.00 84 53 38.41 31 39 54.93 +NCAPG 0 genome.wustl.edu 37 4 17816953 17816953 + Silent SNP C C T TCGA-AB-2822-03D-01W-0755-09 TCGA-AB-2822-11D-01W-0755-09 C C C T C C Verified Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq 1 dbGAP Illumina HiSeq 68b67026-2f30-4839-8579-7a07341b8976 55451b4d-c9af-477d-acdd-d6749bf27f2f 4 17426051 17426051 C T SNP NCAPG NM_022346.3 human genbank 54_36p +1 validated silent c.747 p.L249 0.982 superfamily_ARM-type_fold superfamily_ARM-type_fold - no_errors 66 0 0.00 93 44 31.65 2 3 60.00 +AGXT2 0 genome.wustl.edu 37 5 35037117 35037117 + Missense_Mutation SNP G G T TCGA-AB-2822-03D-01W-0755-09 TCGA-AB-2822-11D-01W-0755-09 G G G T G G Verified Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq 1 dbGAP Illumina HiSeq 68b67026-2f30-4839-8579-7a07341b8976 55451b4d-c9af-477d-acdd-d6749bf27f2f 5 35072874 35072874 G T SNP AGXT2 NM_031900.2 human genbank 54_36p -1 reviewed missense c.416 p.T139N 0.001 HMMPfam_Aminotran_3,superfamily_PyrdxlP-dep_Trfase_major HMMPfam_Aminotran_3,PatternScan_AA_TRANSFER_CLASS_3,superfamily_PyrdxlP-dep_Trfase_major - no_errors 102 0 0.00 186 101 34.95 NA NA NA +EDIL3 0 genome.wustl.edu 37 5 83402506 83402506 + Silent SNP C C T TCGA-AB-2822-03D-01W-0755-09 TCGA-AB-2822-11D-01W-0755-09 C C C T C C Verified Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq 1 dbGAP Illumina HiSeq 68b67026-2f30-4839-8579-7a07341b8976 55451b4d-c9af-477d-acdd-d6749bf27f2f 5 83438262 83438262 C T SNP EDIL3 NM_005711.3 human genbank 54_36p -1 reviewed silent c.612 p.A204 1.000 HMMPfam_F5_F8_type_C,HMMSmart_SM00231,PatternScan_FA58C_1,superfamily_Galactose-binding domain-like PatternScan_ASX_HYDROXYL,HMMPfam_F5_F8_type_C,HMMSmart_SM00231,PatternScan_FA58C_1,PatternScan_FA58C_2,HMMSmart_SM00179,HMMPfam_EGF,HMMSmart_SM00181,superfamily_Galactose-binding domain-like,PatternScan_EGF_1,PatternScan_EGF_2,PatternScan_EGF_CA,superfamily_EGF/Laminin - no_errors 64 0 0.00 193 39 16.74 NA NA NA +PCDHB6 0 genome.wustl.edu 37 5 140530312 140530312 + Missense_Mutation SNP T T A TCGA-AB-2822-03D-01W-0755-09 TCGA-AB-2822-11D-01W-0755-09 T T T A T T Verified Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq 1 dbGAP Illumina HiSeq 68b67026-2f30-4839-8579-7a07341b8976 55451b4d-c9af-477d-acdd-d6749bf27f2f 5 140510496 140510496 T A SNP PCDHB6 NM_018939.2 human genbank 54_36p +1 reviewed missense c.474 p.D158E 0.982 HMMPfam_Cadherin,HMMSmart_CA,superfamily_Cadherin HMMPfam_Cadherin,HMMSmart_CA,PatternScan_CADHERIN_1,HMMPfam_Cadherin_2,superfamily_Cadherin - no_errors 51 0 0.00 82 64 43.54 NA NA NA +GCM2 0 genome.wustl.edu 37 6 10877388 10877388 + Missense_Mutation SNP G G A TCGA-AB-2822-03D-01W-0755-09 TCGA-AB-2822-11D-01W-0755-09 G G G A G G Verified Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq 1 dbGAP Illumina HiSeq 68b67026-2f30-4839-8579-7a07341b8976 55451b4d-c9af-477d-acdd-d6749bf27f2f 6 10985374 10985374 G A SNP GCM2 NM_004752.3 human genbank 54_36p -1 reviewed missense c.328 p.R110W 0.850 HMMPfam_GCM,superfamily_GCM_motif HMMPfam_GCM,superfamily_GCM_motif - no_errors 83 0 0.00 88 61 40.67 NA NA NA +ITPR3 0 genome.wustl.edu 37 6 33657121 33657121 + Silent SNP G G A TCGA-AB-2822-03D-01W-0755-09 TCGA-AB-2822-11D-01W-0755-09 G G G A G G Verified Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq 1 dbGAP Illumina HiSeq 68b67026-2f30-4839-8579-7a07341b8976 55451b4d-c9af-477d-acdd-d6749bf27f2f 6 33765099 33765099 G A SNP ITPR3 NM_002224.2 human genbank 54_36p +1 validated silent c.6801 p.A2267 0.185 NULL HMMPfam_RYDR_ITPR,HMMPfam_MIR,superfamily_MIR,HMMPfam_Ion_trans,HMMPfam_RIH_assoc,HMMPfam_Ins145_P3_rec,HMMSmart_MIR,superfamily_SSF100909 - no_errors 110 0 0.00 75 42 35.90 4 3 42.86 +TMEM200A 0 genome.wustl.edu 37 6 130762082 130762082 + Missense_Mutation SNP C C T TCGA-AB-2822-03D-01W-0755-09 TCGA-AB-2822-11D-01W-0755-09 C C C T C C Verified Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq 1 dbGAP Illumina HiSeq 68b67026-2f30-4839-8579-7a07341b8976 55451b4d-c9af-477d-acdd-d6749bf27f2f 6 130803775 130803775 C T SNP TMEM200A NM_052913.2 human genbank 54_36p +1 provisional missense c.515 p.T172M 0.961 NULL HMMPfam_DUF2371 - no_errors 126 0 0.00 363 75 17.05 1 0 0.00 +WRN 0 genome.wustl.edu 37 8 31004933 31004933 + Missense_Mutation SNP G G A TCGA-AB-2822-03D-01W-0755-09 TCGA-AB-2822-11D-01W-0755-09 G G G A G G Verified Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq 1 dbGAP Illumina HiSeq 68b67026-2f30-4839-8579-7a07341b8976 55451b4d-c9af-477d-acdd-d6749bf27f2f 8 31124475 31124475 G A SNP WRN NM_000553.4 human genbank 54_36p +1 reviewed missense c.3513 p.M1171I 0.995 HMMPfam_HRDC,HMMSmart_SM00341 HMMPfam_Helicase_C,HMMSmart_SM00490,HMMPfam_HRDC,HMMSmart_SM00341,HMMPfam_3_5_exonuc,HMMSmart_SM00474,HMMPfam_DEAD,superfamily_Ribonuclease H-like,HMMSmart_SM00487,HMMPfam_RQC,superfamily_P-loop containing nucleoside triphosphate hydrolases - no_errors 47 0 0.00 294 119 28.61 45 28 38.36 +GRID1 0 genome.wustl.edu 37 10 87379759 87379759 + Missense_Mutation SNP T T A TCGA-AB-2822-03D-01W-0755-09 TCGA-AB-2822-11D-01W-0755-09 T T T A T T Verified Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq 1 dbGAP Illumina HiSeq 68b67026-2f30-4839-8579-7a07341b8976 55451b4d-c9af-477d-acdd-d6749bf27f2f 10 87369739 87369739 T A SNP GRID1 NM_017551.2 human genbank 54_36p -1 reviewed missense c.2225 p.D742V 1.000 HMMPfam_Lig_chan,HMMSmart_SM00079,superfamily_Periplasmic binding protein-like II HMMPfam_Lig_chan,HMMSmart_SM00079,HMMPfam_ANF_receptor,PatternScan_ALDEHYDE_DEHYDR_GLU,HMMPfam_Lig_chan-Glu_bd,superfamily_Periplasmic binding protein-like I,superfamily_Periplasmic binding protein-like II - no_errors 98 0 0.00 98 58 37.18 2 0 0.00 +LRRC43 0 genome.wustl.edu 37 12 122677521 122677521 + Missense_Mutation SNP G G A TCGA-AB-2822-03D-01W-0755-09 TCGA-AB-2822-11D-01W-0755-09 G G G A G G Verified Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq 1 dbGAP Illumina HiSeq 68b67026-2f30-4839-8579-7a07341b8976 55451b4d-c9af-477d-acdd-d6749bf27f2f 12 121243474 121243474 G A SNP LRRC43 NM_001098519.1 human genbank 54_36p +1 validated missense c.1319 p.R440H 0.000 NULL superfamily_Outer arm dynein light chain 1 - no_errors 129 1 0.77 42 24 36.36 NA NA NA +LEO1 0 genome.wustl.edu 37 15 52230383 52230383 + Missense_Mutation SNP G G C TCGA-AB-2822-03D-01W-0755-09 TCGA-AB-2822-11D-01W-0755-09 G G G C G G Verified Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq 1 dbGAP Illumina HiSeq 68b67026-2f30-4839-8579-7a07341b8976 55451b4d-c9af-477d-acdd-d6749bf27f2f 15 50017675 50017675 G C SNP LEO1 NM_138792.2 human genbank 54_36p -1 provisional missense c.1971 p.I657M 1.000 NULL HMMPfam_Leo1 - no_errors 337 2 0.59 160 105 39.62 24 20 45.45 +SYT17 0 genome.wustl.edu 37 16 19236085 19236085 + Missense_Mutation SNP G G C TCGA-AB-2822-03D-01W-0755-09 TCGA-AB-2822-11D-01W-0755-09 G G G C G G Verified Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq 1 dbGAP Illumina HiSeq 68b67026-2f30-4839-8579-7a07341b8976 55451b4d-c9af-477d-acdd-d6749bf27f2f 16 19143586 19143586 G C SNP SYT17 NM_016524.2 human genbank 54_36p +1 validated missense c.1153 p.D385H 0.989 HMMPfam_C2,HMMSmart_C2,superfamily_C2_CaLB HMMPfam_C2,HMMSmart_C2,superfamily_C2_CaLB - no_errors 363 0 0.00 291 159 35.25 NA NA NA +FLJ22167 0 genome.wustl.edu 37 16 75576547 75576547 + Missense_Mutation SNP T T C TCGA-AB-2822-03D-01W-0755-09 TCGA-AB-2822-11D-01W-0755-09 T T T C T T Verified Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq 1 dbGAP Illumina HiSeq 68b67026-2f30-4839-8579-7a07341b8976 55451b4d-c9af-477d-acdd-d6749bf27f2f 16 74134048 74134048 T C SNP FLJ22167 NM_001077416.1 human genbank 54_36p -1 validated missense c.704 p.Y235C 0.061 HMMPfam_NAcGluc_Transf HMMPfam_NAcGluc_Transf - no_errors 127 0 0.00 51 29 35.80 2 2 50.00 +WSCD1 0 genome.wustl.edu 37 17 6023811 6023811 + Missense_Mutation SNP G G A TCGA-AB-2822-03D-01W-0755-09 TCGA-AB-2822-11D-01W-0755-09 G G G A G G Verified Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq 1 dbGAP Illumina HiSeq 68b67026-2f30-4839-8579-7a07341b8976 55451b4d-c9af-477d-acdd-d6749bf27f2f 17 5964535 5964535 G A SNP WSCD1 NM_015253.1 human genbank 54_36p +1 validated missense c.1558 p.V520M 1.000 superfamily_SSF52540 HMMPfam_WSC,HMMSmart_WSC,superfamily_SSF52540 - no_errors 36 0 0.00 87 15 14.71 NA NA NA +MYH4 0 genome.wustl.edu 37 17 10360864 10360864 + Silent SNP G G A TCGA-AB-2822-03D-01W-0755-09 TCGA-AB-2822-11D-01W-0755-09 G G G A G G Verified Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq 1 dbGAP Illumina HiSeq 68b67026-2f30-4839-8579-7a07341b8976 55451b4d-c9af-477d-acdd-d6749bf27f2f 17 10301589 10301589 G A SNP MYH4 NM_017533.2 human genbank 54_36p -1 validated silent c.1770 p.D590 1.000 HMMPfam_Myosin_head,HMMSmart_MYSc,superfamily_SSF52540 HMMSmart_IQ,HMMPfam_Myosin_head,HMMSmart_MYSc,HMMPfam_Myosin_tail_1,HMMPfam_Myosin_N,superfamily_SSF52540 - no_errors 58 0 0.00 91 49 34.75 NA NA NA +uc010dwx.1 0 genome.wustl.edu 37 19 10158021 10158021 + Silent SNP C C T TCGA-AB-2822-03D-01W-0755-09 TCGA-AB-2822-11D-01W-0755-09 C C C T C C Verified Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq 1 dbGAP Illumina HiSeq 68b67026-2f30-4839-8579-7a07341b8976 55451b4d-c9af-477d-acdd-d6749bf27f2f 19 10019021 10019021 C T SNP uc010dwx.1 ENST00000333905 human ensembl 54_36p +1 known silent c.184 p.L62 0.997 HMMPfam_A2M HMMPfam_A2M,superfamily_Terpenoid cyclases/Protein prenyltransferases,HMMPfam_A2M_comp - no_errors 414 0 0.00 152 75 33.04 NA NA NA +LOC728748 0 genome.wustl.edu 37 X 73619165 73619166 + RNA INS - - CTTGAAGAACTGTC TCGA-AB-2822-03D-01W-0755-09 TCGA-AB-2822-11D-01W-0755-09 - - - CTTGAAGAACTGTC - - Verified Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq 1 dbGAP Illumina HiSeq 68b67026-2f30-4839-8579-7a07341b8976 55451b4d-c9af-477d-acdd-d6749bf27f2f X 73535890 73535891 - CTTGAAGAACTGTC INS LOC728748 XR_037583.1 human genbank 54_36p -1 model rna NULL NULL 1.000:0.993 - - - pseudogene NA NA NA NA NA NA NA NA NA +TET2 0 genome.wustl.edu 37 4 106156043 106156043 + Frame_Shift_Del DEL C C - TCGA-AB-2822-03D-01W-0755-09 TCGA-AB-2822-11D-01W-0755-09 C C C - C C Verified Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq 1 dbGAP Illumina HiSeq 68b67026-2f30-4839-8579-7a07341b8976 55451b4d-c9af-477d-acdd-d6749bf27f2f 4 106375492 106375492 C - DEL TET2 NM_017628.1 human genbank 54_36p +1 validated frame_shift_del c.944 p.Q317fs 0.998 NULL NULL - no_errors 191 3 1.55 240 140 36.46 28 13 30.95 +FAM90A1 0 genome.wustl.edu 37 12 8377368 8377368 + Frame_Shift_Del DEL G G - TCGA-AB-2823-03B-01W-0728-08 TCGA-AB-2823-11B-01W-0728-08 G G G - G G Verified Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq 1 dbGAP Illumina HiSeq 27e6c28b-efce-439e-9198-2bb73202fbe0 0dbb8820-77bb-4861-adfd-d383f5d41360 12 8268635 8268635 G - DEL FAM90A1 NM_018088.3 human genbank 54_36p -1 validated frame_shift_del c.61 p.Q21fs 0.000 NULL NULL - no_errors 249 4 1.58 41 16 28.07 0 0 0.00 +SMC1A 0 genome.wustl.edu 37 X 53426626 53426626 + Missense_Mutation SNP C C T TCGA-AB-2824-03B-01W-0728-08 TCGA-AB-2824-11B-01W-0728-08 C C C T C C Verified Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq 1 dbGAP Illumina HiSeq cc17877a-9444-4476-9fc7-3e53e702e7a5 33596319-5024-4e92-bf38-ac65a78fdb4c X 53443351 53443351 C T SNP SMC1A NM_006306.2 human genbank 54_36p -1 reviewed missense c.2447 p.R816H 1.000 HMMPfam_SMC_N,superfamily_SSF52540 HMMPfam_SMC_N,HMMPfam_SMC_hinge,superfamily_SMC_hinge,superfamily_SSF52540 - no_errors 72 1 1.37 187 45 19.23 43 22 33.85 +DNMT3A 0 genome.wustl.edu 37 2 25463286 25463286 + Missense_Mutation SNP C C T TCGA-AB-2824-03B-01W-0728-08 TCGA-AB-2824-11B-01W-0728-08 C C C T C C Verified Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq 1 dbGAP Illumina HiSeq cc17877a-9444-4476-9fc7-3e53e702e7a5 33596319-5024-4e92-bf38-ac65a78fdb4c 2 25316790 25316790 C T SNP DNMT3A NM_022552.3 human genbank 54_36p -1 reviewed missense c.2207 p.R736H 1.000 HMMPfam_DNA_methylase,superfamily_S-adenosyl-L-methionine-dependent methyltransferases HMMPfam_PWWP,HMMSmart_SM00293,HMMPfam_DNA_methylase,superfamily_FYVE/PHD zinc finger,PatternScan_C5_MTASE_1,superfamily_S-adenosyl-L-methionine-dependent methyltransferases,superfamily_Tudor/PWWP/MBT - no_errors 37 4 9.52 36 36 50.00 6 9 60.00 +MDH1B 0 genome.wustl.edu 37 2 207619823 207619823 + Missense_Mutation SNP G G A TCGA-AB-2824-03B-01W-0728-08 TCGA-AB-2824-11B-01W-0728-08 G G G A G G Verified Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq 1 dbGAP Illumina HiSeq cc17877a-9444-4476-9fc7-3e53e702e7a5 33596319-5024-4e92-bf38-ac65a78fdb4c 2 207328068 207328068 G A SNP MDH1B NM_001039845.1 human genbank 54_36p -1 validated missense c.820 p.R274C 0.067 superfamily_NAD(P)-binding Rossmann-fold domains superfamily_LDH C-terminal domain-like,superfamily_NAD(P)-binding Rossmann-fold domains - no_errors 201 29 12.61 154 127 44.41 NA NA NA +RAB23 0 genome.wustl.edu 37 6 57058702 57058702 + Missense_Mutation SNP T T C TCGA-AB-2824-03B-01W-0728-08 TCGA-AB-2824-11B-01W-0728-08 T T T C T T Verified Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq 1 dbGAP Illumina HiSeq cc17877a-9444-4476-9fc7-3e53e702e7a5 33596319-5024-4e92-bf38-ac65a78fdb4c 6 57166661 57166661 T C SNP RAB23 NM_016277.3 human genbank 54_36p -1 reviewed missense c.512 p.Q171R 1.000 HMMSmart_SM00176,HMMSmart_SM00173,HMMSmart_SM00174,HMMSmart_SM00175,HMMPfam_Ras,superfamily_P-loop containing nucleoside triphosphate hydrolases HMMSmart_SM00176,HMMSmart_SM00173,HMMSmart_SM00174,HMMSmart_SM00175,HMMPfam_Ras,superfamily_P-loop containing nucleoside triphosphate hydrolases - no_errors 83 1 1.19 194 40 17.09 5 0 0.00 +NPM1 0 genome.wustl.edu 37 5 170837547 170837548 + Frame_Shift_Ins INS - - TCTG TCGA-AB-2824-03B-01W-0728-08 TCGA-AB-2824-11B-01W-0728-08 - - - TCTG - - Verified Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq 1 dbGAP Illumina HiSeq cc17877a-9444-4476-9fc7-3e53e702e7a5 33596319-5024-4e92-bf38-ac65a78fdb4c 5 170770152 170770153 - TCTG INS NPM1 NM_002520.1 human genbank 54_36p +1 validated frame_shift_ins c.863_864 p.W288fs 1.000:1.000 NULL HMMPfam_Nucleoplasmin,superfamily_Nucleoplasmin-like core domain - no_errors NA NA NA NA NA NA NA NA NA +DNMT3A 0 genome.wustl.edu 37 2 25457242 25457242 + Missense_Mutation SNP C C T TCGA-AB-2825-03D-01W-0755-09 TCGA-AB-2825-11D-01W-0755-09 C C C T C C Verified Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq 1 dbGAP Illumina HiSeq e6e4b579-9ddf-4fb1-bb65-db8321294852 92fea42d-aa1c-40c8-9216-fa500bbe11b7 2 25310746 25310746 C T SNP DNMT3A NM_022552.3 human genbank 54_36p -1 reviewed missense c.2645 p.R882H 1.000 superfamily_S-adenosyl-L-methionine-dependent methyltransferases HMMPfam_PWWP,HMMSmart_SM00293,HMMPfam_DNA_methylase,superfamily_FYVE/PHD zinc finger,PatternScan_C5_MTASE_1,superfamily_S-adenosyl-L-methionine-dependent methyltransferases,superfamily_Tudor/PWWP/MBT - no_errors 41 25 37.88 21 16 43.24 16 8 33.33 +NPM1 0 genome.wustl.edu 37 5 170837547 170837548 + Frame_Shift_Ins INS - - TCTG TCGA-AB-2825-03D-01W-0755-09 TCGA-AB-2825-11D-01W-0755-09 - - - TCTG - - Verified Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq 1 dbGAP Illumina HiSeq e6e4b579-9ddf-4fb1-bb65-db8321294852 92fea42d-aa1c-40c8-9216-fa500bbe11b7 5 170770152 170770153 - TCTG INS NPM1 NM_002520.1 human genbank 54_36p +1 validated frame_shift_ins c.863_864 p.W288fs 1.000:1.000 NULL HMMPfam_Nucleoplasmin,superfamily_Nucleoplasmin-like core domain - no_errors NA NA NA NA NA NA NA NA NA +FLT3 0 genome.wustl.edu 37 13 28608217 28608218 + In_Frame_Ins INS - - CCAAACTCTAAATTTTCTCTTGGAAACTCCCATTTGAGATCATATTCATATTCTCTGAAATCAACGTAGAAGTACTCATTATCTGAGGAGCCGGTATTCGTG TCGA-AB-2825-03D-01W-0755-09 TCGA-AB-2825-11D-01W-0755-09 - - - CCAAACTCTAAATTTTCTCTTGGAAACTCCCATTTGAGATCATATTCATATTCTCTGAAATCAACGTAGAAGTACTCATTATCTGAGGAGCCGGTATTCGTG - - Verified Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq 1 dbGAP Illumina HiSeq e6e4b579-9ddf-4fb1-bb65-db8321294852 92fea42d-aa1c-40c8-9216-fa500bbe11b7 13 27506217 27506218 - CCAAACTCTAAATTTTCTCTTGGAAACTCCCATTTGAGATCATATTCATATTCTCTGAAATCAACGTAGAAGTACTCATTATCTGAGGAGCCGGTATTCGTG INS FLT3 NM_004119.2 human genbank 54_36p -1 reviewed in_frame_ins in_frame_ins 1.000:1.000 - - - no_errors NA NA NA NA NA NA NA NA NA +USP34 0 genome.wustl.edu 37 2 61447538 61447538 + Nonsense_Mutation SNP G G A TCGA-AB-2826-03B-01W-0728-08 TCGA-AB-2826-11B-01W-0728-08 G G G A G G Verified Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq 1 dbGAP Illumina HiSeq 94c3b46a-19ad-4292-82c6-bd1790725616 80181e62-a10e-426c-adac-623bed8e1a60 2 61301042 61301042 G A SNP USP34 NM_014709.3 human genbank 54_36p -1 validated nonsense c.7954 p.R2652* 1.000 NULL HMMPfam_UCH,PatternScan_UCH_2_1,PatternScan_UCH_2_2,superfamily_Cysteine proteinases - no_errors 87 4 4.40 137 51 26.84 35 7 16.28 +KDR 0 genome.wustl.edu 37 4 55956194 55956194 + Missense_Mutation SNP C C T TCGA-AB-2826-03B-01W-0728-08 TCGA-AB-2826-11B-01W-0728-08 C C C T C C Verified Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq 1 dbGAP Illumina HiSeq 94c3b46a-19ad-4292-82c6-bd1790725616 80181e62-a10e-426c-adac-623bed8e1a60 4 55650951 55650951 C T SNP KDR NM_002253.2 human genbank 54_36p -1 validated missense c.3121 p.V1041M 1.000 HMMPfam_Pkinase_Tyr,HMMSmart_TyrKc,superfamily_Kinase_like HMMPfam_Pkinase_Tyr,HMMSmart_TyrKc,PatternScan_RECEPTOR_TYR_KIN_III,HMMSmart_IGc2,HMMSmart_IG,PatternScan_PROTEIN_KINASE_TYR,superfamily_Kinase_like,HMMPfam_I-set,HMMPfam_V-set,HMMPfam_ig,PatternScan_PROTEIN_KINASE_ATP,superfamily_SSF48726 - no_errors 137 13 8.67 118 92 43.81 NA NA NA +LOC643932 0 genome.wustl.edu 37 5 78580276 78580276 + RNA SNP T T C TCGA-AB-2826-03B-01W-0728-08 TCGA-AB-2826-11B-01W-0728-08 T T T C T T Verified Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq 1 dbGAP Illumina HiSeq 94c3b46a-19ad-4292-82c6-bd1790725616 80181e62-a10e-426c-adac-623bed8e1a60 5 78616032 78616032 T C SNP LOC643932 XR_017289.2 human genbank 54_36p -1 model rna NULL NULL 1.000 - - - pseudogene 117 9 7.14 120 107 46.32 2 1 33.33 +KRAS 0 genome.wustl.edu 37 12 25380275 25380275 + Missense_Mutation SNP T T A rs17851045 TCGA-AB-2826-03B-01W-0728-08 TCGA-AB-2826-11B-01W-0728-08 T T T A T T Verified Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq 1 dbGAP Illumina HiSeq 94c3b46a-19ad-4292-82c6-bd1790725616 80181e62-a10e-426c-adac-623bed8e1a60 12 25271542 25271542 T A SNP KRAS NM_033360.3 human genbank 54_36p -1 reviewed missense c.183 p.Q61H 1.000 HMMSmart_SM00176,HMMSmart_SM00173,HMMSmart_SM00174,HMMSmart_SM00175,HMMPfam_Ras,superfamily_P-loop containing nucleoside triphosphate hydrolases HMMSmart_SM00176,HMMSmart_SM00173,HMMSmart_SM00174,HMMSmart_SM00175,HMMPfam_Ras,superfamily_P-loop containing nucleoside triphosphate hydrolases - no_errors 61 5 7.58 80 26 24.53 12 4 25.00 +IDH2 0 genome.wustl.edu 37 15 90631934 90631934 + Missense_Mutation SNP C C T rs121913502 TCGA-AB-2826-03B-01W-0728-08 TCGA-AB-2826-11B-01W-0728-08 C C C T C C Verified Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq 1 dbGAP Illumina HiSeq 94c3b46a-19ad-4292-82c6-bd1790725616 80181e62-a10e-426c-adac-623bed8e1a60 15 88432938 88432938 C T SNP IDH2 NM_002168.2 human genbank 54_36p -1 reviewed missense c.419 p.R140Q 1.000 HMMPfam_Iso_dh,superfamily_Isocitrate/Isopropylmalate dehydrogenase-like HMMPfam_Iso_dh,PatternScan_IDH_IMDH,superfamily_Isocitrate/Isopropylmalate dehydrogenase-like - no_errors 71 4 5.26 60 47 43.93 145 101 40.89 +NPM1 0 genome.wustl.edu 37 5 170837543 170837544 + Frame_Shift_Ins INS - - TCTG TCGA-AB-2826-03B-01W-0728-08 TCGA-AB-2826-11B-01W-0728-08 - - - TCTG - - Verified Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq 1 dbGAP Illumina HiSeq 94c3b46a-19ad-4292-82c6-bd1790725616 80181e62-a10e-426c-adac-623bed8e1a60 5 170770148 170770149 - TCTG INS NPM1 NM_002520.1 human genbank 54_36p +1 validated frame_shift_ins c.859_860 p.W288fs 1.000:1.000 NULL HMMPfam_Nucleoplasmin,superfamily_Nucleoplasmin-like core domain - no_errors NA NA NA NA NA NA NA NA NA +EPHA10 0 genome.wustl.edu 37 1 38227576 38227576 + Silent SNP G G A TCGA-AB-2827-03B-01W-0728-08 TCGA-AB-2827-11B-01W-0728-08 G G G A G G Verified Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq 1 dbGAP Illumina HiSeq 1a21f77d-2ab7-4b5a-b91a-2f561a459dd1 bf713301-022e-480e-8c3a-5c04981f30de 1 38000163 38000163 G A SNP EPHA10 NM_001099439.1 human genbank 54_36p -1 validated silent c.351 p.G117 0.531 HMMPfam_Ephrin_lbd,HMMSmart_SM00615,superfamily_Galactose-binding domain-like HMMPfam_Ephrin_lbd,HMMSmart_SM00615,HMMPfam_Pkinase_Tyr,HMMSmart_SM00219,PatternScan_RECEPTOR_TYR_KIN_V_1,PatternScan_RECEPTOR_TYR_KIN_V_2,HMMPfam_SAM_1,HMMSmart_SM00454,HMMSmart_SM00220,HMMPfam_fn3,HMMSmart_SM00060,superfamily_Fibronectin type III,superfamily_Galactose-binding domain-like,superfamily_SAM/Pointed domain,superfamily_Protein kinase-like (PK-like),PatternScan_EGF_2 - no_errors 187 2 1.06 52 8 13.11 NA NA NA +SELENBP1 0 genome.wustl.edu 37 1 151337703 151337703 + Missense_Mutation SNP C C T TCGA-AB-2827-03B-01W-0728-08 TCGA-AB-2827-11B-01W-0728-08 C C C T C C Verified Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq 1 dbGAP Illumina HiSeq 1a21f77d-2ab7-4b5a-b91a-2f561a459dd1 bf713301-022e-480e-8c3a-5c04981f30de 1 149604327 149604327 C T SNP SELENBP1 NM_003944.2 human genbank 54_36p -1 reviewed missense c.1099 p.E367K 0.978 HMMPfam_SBP56,superfamily_Cyt_cd1_haem_C HMMPfam_SBP56,superfamily_Cyt_cd1_haem_C - no_errors 16 1 5.88 113 94 44.98 NA NA NA +PPIC 0 genome.wustl.edu 37 5 122361517 122361517 + Missense_Mutation SNP C C T TCGA-AB-2827-03B-01W-0728-08 TCGA-AB-2827-11B-01W-0728-08 C C C T C C Verified Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq 1 dbGAP Illumina HiSeq 1a21f77d-2ab7-4b5a-b91a-2f561a459dd1 bf713301-022e-480e-8c3a-5c04981f30de 5 122389416 122389416 C T SNP PPIC NM_000943.4 human genbank 54_36p -1 reviewed missense c.472 p.G158S 1.000 HMMPfam_Pro_isomerase,superfamily_Cyclophilin-like HMMPfam_Pro_isomerase,PatternScan_CSA_PPIASE_1,superfamily_Cyclophilin-like - no_errors 58 6 9.38 91 50 35.21 NA NA NA +ATXN7L1 0 genome.wustl.edu 37 7 105278946 105278946 + Missense_Mutation SNP C C G TCGA-AB-2827-03B-01W-0728-08 TCGA-AB-2827-11B-01W-0728-08 C C C G C C Verified Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq 1 dbGAP Illumina HiSeq 1a21f77d-2ab7-4b5a-b91a-2f561a459dd1 bf713301-022e-480e-8c3a-5c04981f30de 7 105066182 105066182 C G SNP ATXN7L1 ENST00000297416 human ensembl 54_36p -1 known missense c.1065 p.E355D 1.000 NULL HMMPfam_SCA7 - no_start_codon 21 0 0.00 99 81 44.75 NA NA NA +MYC 0 genome.wustl.edu 37 8 128750684 128750684 + Missense_Mutation SNP C C T TCGA-AB-2827-03B-01W-0728-08 TCGA-AB-2827-11B-01W-0728-08 C C C T C C Verified Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq 1 dbGAP Illumina HiSeq 1a21f77d-2ab7-4b5a-b91a-2f561a459dd1 bf713301-022e-480e-8c3a-5c04981f30de 8 128819866 128819866 C T SNP MYC NM_002467.3 human genbank 54_36p +1 reviewed missense c.221 p.P74L 1.000 HMMPfam_Myc_N HMMPfam_HLH,HMMSmart_SM00353,HMMPfam_Myc-LZ,superfamily_HLH helix-loop-helix DNA-binding domain,HMMPfam_Myc_N - no_errors 80 0 0.00 56 11 16.18 NA NA NA +KANK1 0 genome.wustl.edu 37 9 711981 711981 + Silent SNP C C G TCGA-AB-2827-03B-01W-0728-08 TCGA-AB-2827-11B-01W-0728-08 C C C G C C Verified Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq 1 dbGAP Illumina HiSeq 1a21f77d-2ab7-4b5a-b91a-2f561a459dd1 bf713301-022e-480e-8c3a-5c04981f30de 9 701981 701981 C G SNP KANK1 NM_015158.2 human genbank 54_36p +1 reviewed silent c.1215 p.A405 0.883 superfamily_ANK HMMPfam_Ank,HMMSmart_ANK,superfamily_ANK - no_errors 48 0 0.00 97 23 18.55 NA NA NA +TMCO3 0 genome.wustl.edu 37 13 114193794 114193794 + Silent SNP C C T TCGA-AB-2827-03B-01W-0728-08 TCGA-AB-2827-11B-01W-0728-08 C C C T C C Verified Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq 1 dbGAP Illumina HiSeq 1a21f77d-2ab7-4b5a-b91a-2f561a459dd1 bf713301-022e-480e-8c3a-5c04981f30de 13 113241795 113241795 C T SNP TMCO3 NM_017905.4 human genbank 54_36p +1 validated silent c.1662 p.F554 0.996 HMMPfam_Na_H_Exchanger HMMPfam_Na_H_Exchanger - no_errors 121 0 0.00 127 84 39.44 NA NA NA +SPESP1 0 genome.wustl.edu 37 15 69238661 69238661 + Missense_Mutation SNP G G A TCGA-AB-2827-03B-01W-0728-08 TCGA-AB-2827-11B-01W-0728-08 G G G A G G Verified Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq 1 dbGAP Illumina HiSeq 1a21f77d-2ab7-4b5a-b91a-2f561a459dd1 bf713301-022e-480e-8c3a-5c04981f30de 15 67025715 67025715 G A SNP SPESP1 NM_145658.2 human genbank 54_36p +1 provisional missense c.788 p.R263Q 0.090 NULL NULL - no_errors 6 0 0.00 134 34 20.00 NA NA NA +FAM65A 0 genome.wustl.edu 37 16 67573989 67573989 + Missense_Mutation SNP C C T TCGA-AB-2827-03B-01W-0728-08 TCGA-AB-2827-11B-01W-0728-08 C C C T C C Verified Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq 1 dbGAP Illumina HiSeq 1a21f77d-2ab7-4b5a-b91a-2f561a459dd1 bf713301-022e-480e-8c3a-5c04981f30de 16 66131490 66131490 C T SNP FAM65A NM_024519.2 human genbank 54_36p +1 validated missense c.448 p.R150W 1.000 NULL superfamily_ARM-type_fold - no_errors 99 7 6.60 192 170 46.45 NA NA NA +RNF157 0 genome.wustl.edu 37 17 74158051 74158051 + Silent SNP G G A TCGA-AB-2827-03B-01W-0728-08 TCGA-AB-2827-11B-01W-0728-08 G G G A G G Verified Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq 1 dbGAP Illumina HiSeq 1a21f77d-2ab7-4b5a-b91a-2f561a459dd1 bf713301-022e-480e-8c3a-5c04981f30de 17 71669646 71669646 G A SNP RNF157 NM_052916.2 human genbank 54_36p -1 validated silent c.825 p.A275 0.627 superfamily_RING/U-box HMMSmart_SM00184,HMMPfam_zf-C3HC4,superfamily_RING/U-box - no_errors 38 0 0.00 86 36 29.27 NA NA NA +USP36 0 genome.wustl.edu 37 17 76825031 76825031 + Silent SNP G G A TCGA-AB-2827-03B-01W-0728-08 TCGA-AB-2827-11B-01W-0728-08 G G G A G G Verified Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq 1 dbGAP Illumina HiSeq 1a21f77d-2ab7-4b5a-b91a-2f561a459dd1 bf713301-022e-480e-8c3a-5c04981f30de 17 74336626 74336626 G A SNP USP36 NM_025090.3 human genbank 54_36p -1 validated silent c.534 p.F178 0.979 HMMPfam_UCH,superfamily_SSF54001 HMMPfam_UCH,PatternScan_IG_MHC,PatternScan_UCH_2_1,PatternScan_UCH_2_2,superfamily_SSF54001 - no_errors 18 0 0.00 95 76 44.19 NA NA NA +TEX19 0 genome.wustl.edu 37 17 80320077 80320077 + Silent SNP C C G TCGA-AB-2827-03B-01W-0728-08 TCGA-AB-2827-11B-01W-0728-08 C C C G C C Verified Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq 1 dbGAP Illumina HiSeq 1a21f77d-2ab7-4b5a-b91a-2f561a459dd1 bf713301-022e-480e-8c3a-5c04981f30de 17 77913366 77913366 C G SNP FLJ35767 NM_207459.1 human genbank 54_36p +1 predicted silent c.51 p.L17 0.000 NULL NULL - no_errors 61 1 1.61 14 6 30.00 NA NA NA +PLA2G4C 0 genome.wustl.edu 37 19 48607930 48607930 + Missense_Mutation SNP C C G TCGA-AB-2827-03B-01W-0728-08 TCGA-AB-2827-11B-01W-0728-08 C C C G C C Verified Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq 1 dbGAP Illumina HiSeq 1a21f77d-2ab7-4b5a-b91a-2f561a459dd1 bf713301-022e-480e-8c3a-5c04981f30de 19 53299742 53299742 C G SNP PLA2G4C NM_003706.1 human genbank 54_36p -1 provisional missense c.172 p.A58P 0.980 HMMPfam_PLA2_B,HMMSmart_PLAc,superfamily_Acyl_Trfase/lysoPlipase HMMPfam_PLA2_B,HMMSmart_PLAc,superfamily_Acyl_Trfase/lysoPlipase - no_errors 30 1 3.23 57 53 47.75 NA NA NA +MTMR3 0 genome.wustl.edu 37 22 30398934 30398934 + Missense_Mutation SNP G G C TCGA-AB-2827-03B-01W-0728-08 TCGA-AB-2827-11B-01W-0728-08 G G G C G G Verified Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq 1 dbGAP Illumina HiSeq 1a21f77d-2ab7-4b5a-b91a-2f561a459dd1 bf713301-022e-480e-8c3a-5c04981f30de 22 28728934 28728934 G C SNP MTMR3 NM_021090.3 human genbank 54_36p +1 reviewed missense c.623 p.S208T 1.000 HMMPfam_Myotub-related,superfamily_(Phosphotyrosine protein) phosphatases II HMMPfam_FYVE,HMMSmart_SM00064,HMMSmart_SM00404,HMMPfam_Myotub-related,superfamily_FYVE/PHD zinc finger,PatternScan_TYR_PHOSPHATASE_1,superfamily_PH domain-like,superfamily_(Phosphotyrosine protein) phosphatases II - no_errors 41 0 0.00 113 83 41.92 NA NA NA +ARHGEF19 0 genome.wustl.edu 37 1 16525645 16525645 + Missense_Mutation SNP C C T TCGA-AB-2828-03C-01W-0761-09 TCGA-AB-2828-11B-01W-0728-08 C C C T C C Verified Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq 1 dbGAP Illumina HiSeq 10851212-f1e2-4d19-a72c-e5b76befbf4e c216d8ed-38df-4961-96a7-0e8a9184a17d 1 16398232 16398232 C T SNP ARHGEF19 NM_153213.3 human genbank 54_36p -1 provisional missense c.2251 p.G751S 0.999 HMMPfam_SH3_1,HMMSmart_SM00326,superfamily_SH3-domain HMMPfam_RhoGEF,HMMSmart_SM00325,superfamily_DBL homology domain (DH-domain),HMMPfam_SH3_1,HMMSmart_SM00326,superfamily_SH3-domain,HMMPfam_PH,HMMSmart_SM00233,superfamily_PH domain-like - no_errors 161 6 3.59 204 180 46.15 1 0 0.00 +OR2M2 0 genome.wustl.edu 37 1 248344003 248344003 + Missense_Mutation SNP C C T TCGA-AB-2828-03C-01W-0761-09 TCGA-AB-2828-11B-01W-0728-08 C C C T C C Verified Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq 1 dbGAP Illumina HiSeq 10851212-f1e2-4d19-a72c-e5b76befbf4e c216d8ed-38df-4961-96a7-0e8a9184a17d 1 246410626 246410626 C T SNP OR2M2 NM_001004688.1 human genbank 54_36p +1 provisional missense c.716 p.T239M 0.002 HMMPfam_7tm_1,superfamily_SSF81321 HMMPfam_7tm_1,PatternScan_G_PROTEIN_RECEP_F1_1,superfamily_SSF81321 - no_errors 53 3 5.36 93 95 50.00 NA NA NA +CAMKMT 0 genome.wustl.edu 37 2 44931441 44931441 + Silent SNP G G A TCGA-AB-2828-03C-01W-0761-09 TCGA-AB-2828-11B-01W-0728-08 G G G A G G Verified Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq 1 dbGAP Illumina HiSeq 10851212-f1e2-4d19-a72c-e5b76befbf4e c216d8ed-38df-4961-96a7-0e8a9184a17d 2 44784945 44784945 G A SNP C2orf34 NM_024766.3 human genbank 54_36p +1 validated silent c.396 p.E132 1.000 HMMPfam_Methyltransf_16,superfamily_S-adenosyl-L-methionine-dependent methyltransferases HMMPfam_Methyltransf_16,superfamily_S-adenosyl-L-methionine-dependent methyltransferases - no_errors 119 9 7.03 112 89 44.06 4 1 20.00 +DYSF 0 genome.wustl.edu 37 2 71797454 71797454 + Silent SNP C C T TCGA-AB-2828-03C-01W-0761-09 TCGA-AB-2828-11B-01W-0728-08 C C C T C C Verified Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq 1 dbGAP Illumina HiSeq 10851212-f1e2-4d19-a72c-e5b76befbf4e c216d8ed-38df-4961-96a7-0e8a9184a17d 2 71650962 71650962 C T SNP DYSF NM_003494.1 human genbank 54_36p +1 reviewed silent c.3021 p.V1007 0.913 NULL HMMPfam_C2,HMMSmart_SM00239,HMMSmart_SM00693,HMMSmart_SM00694,superfamily_C2 domain (Calcium/lipid-binding domain CaLB),HMMPfam_FerA,HMMPfam_FerB,HMMPfam_FerI - no_errors 51 0 0.00 135 31 18.56 43 9 17.31 +PARP14 0 genome.wustl.edu 37 3 122420027 122420027 + Missense_Mutation SNP C C G TCGA-AB-2828-03C-01W-0761-09 TCGA-AB-2828-11B-01W-0728-08 C C C G C C Verified Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq 1 dbGAP Illumina HiSeq 10851212-f1e2-4d19-a72c-e5b76befbf4e c216d8ed-38df-4961-96a7-0e8a9184a17d 3 123902717 123902717 C G SNP PARP14 NM_017554.2 human genbank 54_36p +1 validated missense c.2626 p.H876D 0.002 HMMPfam_Macro,HMMSmart_SM00506,superfamily_Macro domain-like HMMPfam_Macro,HMMSmart_SM00506,HMMPfam_PARP,superfamily_Macro domain-like,superfamily_ADP-ribosylation - no_errors 58 2 3.33 82 85 50.60 22 21 48.84 +SCARA3 0 genome.wustl.edu 37 8 27516940 27516940 + Missense_Mutation SNP G G A TCGA-AB-2828-03C-01W-0761-09 TCGA-AB-2828-11B-01W-0728-08 G G G A G G Verified Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq 1 dbGAP Illumina HiSeq 10851212-f1e2-4d19-a72c-e5b76befbf4e c216d8ed-38df-4961-96a7-0e8a9184a17d 8 27572859 27572859 G A SNP SCARA3 NM_016240.2 human genbank 54_36p +1 reviewed missense c.1253 p.S418N 0.997 NULL HMMPfam_Collagen - no_errors 61 2 3.17 104 94 47.24 NA NA NA +MCM10 0 genome.wustl.edu 37 10 13234451 13234451 + Missense_Mutation SNP G G A TCGA-AB-2828-03C-01W-0761-09 TCGA-AB-2828-11B-01W-0728-08 G G G A G G Verified Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq 1 dbGAP Illumina HiSeq 10851212-f1e2-4d19-a72c-e5b76befbf4e c216d8ed-38df-4961-96a7-0e8a9184a17d 10 13274457 13274457 G A SNP MCM10 NM_182751.3 human genbank 54_36p +1 reviewed missense c.1631 p.G544E 0.733 HMMPfam_Mcm10 HMMPfam_zf-primase,HMMPfam_Mcm10 - no_errors 64 5 7.25 82 55 39.86 12 14 51.85 +ASUN 0 genome.wustl.edu 37 12 27066475 27066475 + Nonsense_Mutation SNP C C A TCGA-AB-2828-03C-01W-0761-09 TCGA-AB-2828-11B-01W-0728-08 C C C A C C Verified Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq 1 dbGAP Illumina HiSeq 10851212-f1e2-4d19-a72c-e5b76befbf4e c216d8ed-38df-4961-96a7-0e8a9184a17d 12 26957742 26957742 C A SNP C12orf11 NM_018164.2 human genbank 54_36p -1 validated nonsense c.1720 p.G574* 1.000 HMMPfam_DUF2151 HMMPfam_DUF2151 - no_errors 128 4 3.03 132 112 45.53 23 10 30.30 +KRT2 0 genome.wustl.edu 37 12 53045804 53045804 + Silent SNP G G A TCGA-AB-2828-03C-01W-0761-09 TCGA-AB-2828-11B-01W-0728-08 G G G A G G Verified Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq 1 dbGAP Illumina HiSeq 10851212-f1e2-4d19-a72c-e5b76befbf4e c216d8ed-38df-4961-96a7-0e8a9184a17d 12 51332071 51332071 G A SNP KRT2 NM_000423.2 human genbank 54_36p -1 reviewed silent c.123 p.S41 1.000 NULL HMMPfam_Filament,PatternScan_IF - no_errors 23 1 4.17 38 29 43.28 NA NA NA +SECISBP2L 0 genome.wustl.edu 37 15 49301512 49301512 + Missense_Mutation SNP C C T TCGA-AB-2828-03C-01W-0761-09 TCGA-AB-2828-11B-01W-0728-08 C C C T C C Verified Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq 1 dbGAP Illumina HiSeq 10851212-f1e2-4d19-a72c-e5b76befbf4e c216d8ed-38df-4961-96a7-0e8a9184a17d 15 47088804 47088804 C T SNP SECISBP2L NM_014701.2 human genbank 54_36p -1 provisional missense c.1793 p.C598Y 1.000 NULL HMMPfam_Ribosomal_L7Ae,superfamily_SSF55315 - no_errors 178 8 4.30 178 164 47.95 18 19 51.35 +LOC653657 0 genome.wustl.edu 37 19 7058587 7058587 + Silent SNP C C T TCGA-AB-2828-03C-01W-0761-09 TCGA-AB-2828-11B-01W-0728-08 C C C T C C Verified Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq 1 dbGAP Illumina HiSeq 10851212-f1e2-4d19-a72c-e5b76befbf4e c216d8ed-38df-4961-96a7-0e8a9184a17d 19 7009587 7009587 C T SNP LOC653657 XM_928697.3 human genbank 54_36p -1 model silent c.30 p.P10 0.004 NULL NULL - no_errors 17 0 0.00 11 6 35.29 NA NA NA +C19orf46 0 genome.wustl.edu 37 19 36497458 36497458 + Missense_Mutation SNP G G A TCGA-AB-2828-03C-01W-0761-09 TCGA-AB-2828-11B-01W-0728-08 G G G A G G Verified Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq 1 dbGAP Illumina HiSeq 10851212-f1e2-4d19-a72c-e5b76befbf4e c216d8ed-38df-4961-96a7-0e8a9184a17d 19 41189298 41189298 G A SNP C19orf46 NM_001039876.1 human genbank 54_36p -1 validated missense c.734 p.T245I 0.973 NULL HMMPfam_KASH - no_errors 68 3 4.23 41 24 36.92 NA NA NA +FCGBP 0 genome.wustl.edu 37 19 40376946 40376946 + Missense_Mutation SNP G G A TCGA-AB-2828-03C-01W-0761-09 TCGA-AB-2828-11B-01W-0728-08 G G G A G G Verified Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq 1 dbGAP Illumina HiSeq 10851212-f1e2-4d19-a72c-e5b76befbf4e c216d8ed-38df-4961-96a7-0e8a9184a17d 19 45068786 45068786 G A SNP FCGBP NM_003890.2 human genbank 54_36p -1 validated missense c.11476 p.P3826S 0.554 NULL HMMSmart_VWC,HMMPfam_VWD,HMMSmart_VWD,superfamily_Cysrich_TIL,HMMPfam_TIL_assoc,HMMSmart_FOLN,HMMPfam_C8,HMMPfam_TIL - no_errors 23 0 0.00 29 3 9.38 3 1 25.00 +OBSCN 0 genome.wustl.edu 37 1 228473959 228473959 + Missense_Mutation SNP T T G TCGA-AB-2829-03B-01W-0728-08 TCGA-AB-2829-11B-01W-0728-08 T T T G T T Verified Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq 1 dbGAP Illumina HiSeq 3628d9c6-ef9a-480a-97b2-3f2185457880 bba8ed8c-637e-445e-90eb-b288db2e63bb 1 226540582 226540582 T G SNP OBSCN NM_001098623.1 human genbank 54_36p +1 reviewed missense c.9185 p.V3062G 0.742 HMMSmart_SM00408,HMMSmart_SM00409,HMMPfam_I-set,superfamily_Immunoglobulin HMMPfam_IQ,HMMSmart_SM00015,HMMPfam_RhoGEF,HMMSmart_SM00325,superfamily_DBL homology domain (DH-domain),HMMSmart_SM00219,HMMPfam_PH,HMMSmart_SM00233,HMMSmart_SM00220,HMMSmart_SM00406,HMMSmart_SM00408,HMMSmart_SM00409,HMMPfam_fn3,HMMSmart_SM00060,PatternScan_PROTEIN_KINASE_TYR,PatternScan_PROTEIN_KINASE_ST,superfamily_Fibronectin type III,superfamily_Protein kinase-like (PK-like),HMMPfam_I-set,HMMPfam_V-set,HMMPfam_ig,PatternScan_PROTEIN_KINASE_ATP,HMMPfam_Pkinase,PatternScan_GLYCOSYL_HYDROL_F5,superfamily_Immunoglobulin,superfamily_PH domain-like - no_errors 8 0 0.00 21 17 44.74 NA NA NA +ITPR1 0 genome.wustl.edu 37 3 4825546 4825546 + Missense_Mutation SNP G G A TCGA-AB-2829-03B-01W-0728-08 TCGA-AB-2829-11B-01W-0728-08 G G G A G G Verified Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq 1 dbGAP Illumina HiSeq 3628d9c6-ef9a-480a-97b2-3f2185457880 bba8ed8c-637e-445e-90eb-b288db2e63bb 3 4800546 4800546 G A SNP ITPR1 NM_001099952.1 human genbank 54_36p +1 validated missense c.6413 p.G2138D 0.977 NULL HMMPfam_RYDR_ITPR,HMMPfam_MIR,superfamily_MIR domain (Pfam 02815),HMMPfam_Ion_trans,HMMPfam_RIH_assoc,HMMPfam_Ins145_P3_rec,HMMSmart_SM00472,superfamily_IP3 receptor type 1 binding core domain 2 - no_errors 98 1 1.01 139 99 41.25 NA NA NA +CNOT6 0 genome.wustl.edu 37 5 179994980 179994980 + Missense_Mutation SNP G G T TCGA-AB-2829-03B-01W-0728-08 TCGA-AB-2829-11B-01W-0728-08 G G G T G G Verified Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq 1 dbGAP Illumina HiSeq 3628d9c6-ef9a-480a-97b2-3f2185457880 bba8ed8c-637e-445e-90eb-b288db2e63bb 5 179927586 179927586 G T SNP CNOT6 NM_015455.3 human genbank 54_36p +1 reviewed missense c.1004 p.R335L 1.000 HMMPfam_Exo_endo_phos,superfamily_DNase I-like HMMPfam_LRR_1,HMMSmart_SM00369,HMMPfam_Exo_endo_phos,superfamily_DNase I-like,superfamily_L domain-like - no_errors 60 0 0.00 63 56 47.06 NA NA NA +SLC43A1 0 genome.wustl.edu 37 11 57252654 57252654 + Missense_Mutation SNP T T C TCGA-AB-2829-03B-01W-0728-08 TCGA-AB-2829-11B-01W-0728-08 T T T C T T Verified Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq 1 dbGAP Illumina HiSeq 3628d9c6-ef9a-480a-97b2-3f2185457880 bba8ed8c-637e-445e-90eb-b288db2e63bb 11 57009230 57009230 T C SNP SLC43A1 NM_003627.4 human genbank 54_36p -1 provisional missense c.1595 p.Y532C 0.999 superfamily_MFS general substrate transporter superfamily_MFS general substrate transporter - no_errors 33 0 0.00 30 26 46.43 NA NA NA +PIWIL4 0 genome.wustl.edu 37 11 94300736 94300736 + Missense_Mutation SNP G G C TCGA-AB-2829-03B-01W-0728-08 TCGA-AB-2829-11B-01W-0728-08 G G G C G G Verified Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq 1 dbGAP Illumina HiSeq 3628d9c6-ef9a-480a-97b2-3f2185457880 bba8ed8c-637e-445e-90eb-b288db2e63bb 11 93940384 93940384 G C SNP PIWIL4 NM_152431.2 human genbank 54_36p +1 validated missense c.52 p.A18P 0.000 NULL HMMPfam_PAZ,HMMPfam_Piwi,superfamily_Ribonuclease H-like,superfamily_PAZ domain - no_errors 22 0 0.00 75 44 36.67 NA NA NA +RPL4 0 genome.wustl.edu 37 15 66794244 66794244 + Missense_Mutation SNP C C T TCGA-AB-2829-03B-01W-0728-08 TCGA-AB-2829-11B-01W-0728-08 C C C T C C Verified Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq 1 dbGAP Illumina HiSeq 3628d9c6-ef9a-480a-97b2-3f2185457880 bba8ed8c-637e-445e-90eb-b288db2e63bb 15 64581298 64581298 C T SNP RPL4 NM_000968.2 human genbank 54_36p -1 reviewed missense c.428 p.R143H 1.000 HMMPfam_Ribosomal_L4,superfamily_Ribosomal protein L4 HMMPfam_Ribosomal_L4,superfamily_Ribosomal protein L4,PatternScan_RIBOSOMAL_L1E,PatternScan_ALDEHYDE_DEHYDR_GLU - no_errors 28 0 0.00 126 60 32.09 NA NA NA +NTRK3 0 genome.wustl.edu 37 15 88670420 88670420 + Silent SNP G G A TCGA-AB-2829-03B-01W-0728-08 TCGA-AB-2829-11B-01W-0728-08 G G G A G G Verified Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq 1 dbGAP Illumina HiSeq 3628d9c6-ef9a-480a-97b2-3f2185457880 bba8ed8c-637e-445e-90eb-b288db2e63bb 15 86471424 86471424 G A SNP NTRK3 NM_001012338.1 human genbank 54_36p -1 reviewed silent c.1266 p.T422 1.000 NULL HMMPfam_LRRNT,HMMSmart_SM00013,HMMSmart_SM00082,HMMPfam_Pkinase_Tyr,HMMSmart_SM00219,HMMPfam_LRR_1,PatternScan_RECEPTOR_TYR_KIN_II,HMMSmart_SM00220,HMMSmart_SM00409,PatternScan_PROTEIN_KINASE_TYR,superfamily_Protein kinase-like (PK-like),HMMPfam_I-set,HMMPfam_ig,PatternScan_PROTEIN_KINASE_ATP,superfamily_Immunoglobulin,superfamily_L domain-like - no_errors 141 0 0.00 221 67 23.18 NA NA NA +TP53 0 genome.wustl.edu 37 17 7577100 7577100 + Missense_Mutation SNP T T C TCGA-AB-2829-03B-01W-0728-08 TCGA-AB-2829-11B-01W-0728-08 T T T C T T Verified Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq 1 dbGAP Illumina HiSeq 3628d9c6-ef9a-480a-97b2-3f2185457880 bba8ed8c-637e-445e-90eb-b288db2e63bb 17 7517825 7517825 T C SNP TP53 NM_000546.4 human genbank 54_36p -1 reviewed missense c.838 p.R280G 0.997 superfamily_p53-like transcription factors,HMMPfam_P53 PatternScan_P53,superfamily_p53-like transcription factors,HMMPfam_P53_tetramer,superfamily_p53 tetramerization domain,HMMPfam_P53,HMMPfam_P53_TAD - no_errors 182 1 0.54 189 95 33.10 NA NA NA +TP53 0 genome.wustl.edu 37 17 7577609 7577609 + Splice_Site SNP C C T TCGA-AB-2829-03B-01W-0728-08 TCGA-AB-2829-11B-01W-0728-08 C C C T C C Verified Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq 1 dbGAP Illumina HiSeq 3628d9c6-ef9a-480a-97b2-3f2185457880 bba8ed8c-637e-445e-90eb-b288db2e63bb 17 7518334 7518334 C T SNP TP53 NM_000546.4 human genbank 54_36p -1 reviewed splice_site c.673-1 e6-1 0.990 - - - no_errors 258 2 0.77 233 124 34.44 NA NA NA +HSPA13 0 genome.wustl.edu 37 21 15745969 15745969 + Missense_Mutation SNP T T C TCGA-AB-2829-03B-01W-0728-08 TCGA-AB-2829-11B-01W-0728-08 T T T C T T Verified Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq 1 dbGAP Illumina HiSeq 3628d9c6-ef9a-480a-97b2-3f2185457880 bba8ed8c-637e-445e-90eb-b288db2e63bb 21 14667840 14667840 T C SNP HSPA13 NM_006948.4 human genbank 54_36p -1 reviewed missense c.1385 p.N462S 1.000 NULL HMMPfam_HSP70,PatternScan_HSP70_1,PatternScan_HSP70_2,PatternScan_HSP70_3,superfamily_Actin-like ATPase domain - no_errors 47 0 0.00 216 31 12.45 NA NA NA +GYG2 0 genome.wustl.edu 37 X 2793884 2793884 + Missense_Mutation SNP G G A TCGA-AB-2830-03B-01W-0728-08 TCGA-AB-2830-11B-01W-0728-08 G G G A G G Verified Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq 1 dbGAP Illumina HiSeq f72fb885-99dd-486a-8f06-cf886c085f60 303971a6-646d-43e9-aa4c-18a133db1161 X 2803884 2803884 G A SNP GYG2 NM_003918.1 human genbank 54_36p +1 validated missense c.1165 p.V389M 0.001 NULL HMMPfam_Glyco_transf_8,superfamily_Nucleotide-diphospho-sugar transferases - no_errors 58 2 3.33 69 34 33.01 NA NA NA +SCML2 0 genome.wustl.edu 37 X 18343050 18343050 + Missense_Mutation SNP C C A TCGA-AB-2830-03B-01W-0728-08 TCGA-AB-2830-11B-01W-0728-08 C C C A C C Verified Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq 1 dbGAP Illumina HiSeq f72fb885-99dd-486a-8f06-cf886c085f60 303971a6-646d-43e9-aa4c-18a133db1161 X 18252971 18252971 C A SNP SCML2 NM_006089.2 human genbank 54_36p -1 validated missense c.139 p.A47S 1.000 HMMSmart_SM00561,superfamily_Tudor/PWWP/MBT HMMPfam_SAM_1,HMMSmart_SM00454,HMMPfam_MBT,HMMSmart_SM00561,superfamily_SAM/Pointed domain,superfamily_Tudor/PWWP/MBT - no_errors 33 3 8.11 51 34 40.00 22 0 0.00 +TBC1D8B 0 genome.wustl.edu 37 X 106069437 106069437 + Missense_Mutation SNP T T A TCGA-AB-2830-03B-01W-0728-08 TCGA-AB-2830-11B-01W-0728-08 T T T A T T Verified Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq 1 dbGAP Illumina HiSeq f72fb885-99dd-486a-8f06-cf886c085f60 303971a6-646d-43e9-aa4c-18a133db1161 X 105956093 105956093 T A SNP TBC1D8B NM_017752.2 human genbank 54_36p +1 validated missense c.1005 p.N335K 0.976 HMMPfam_GRAM,HMMSmart_SM00568 HMMPfam_TBC,HMMSmart_SM00164,superfamily_Ypt/Rab-GAP domain of gyp1p,HMMPfam_GRAM,HMMSmart_SM00568,PatternScan_EF_HAND_1,superfamily_EF-hand - no_errors 19 0 0.00 125 31 19.87 4 0 0.00 +AIFM1 0 genome.wustl.edu 37 X 129283541 129283541 + Silent SNP G G A TCGA-AB-2830-03B-01W-0728-08 TCGA-AB-2830-11B-01W-0728-08 G G G A G G Verified Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq 1 dbGAP Illumina HiSeq f72fb885-99dd-486a-8f06-cf886c085f60 303971a6-646d-43e9-aa4c-18a133db1161 X 129111222 129111222 G A SNP AIFM1 NM_004208.1 human genbank 54_36p -1 reviewed silent c.252 p.A84 1.000 NULL HMMPfam_Pyr_redox_2,superfamily_FAD/NAD-linked reductases dimerisation (C-terminal) domain,superfamily_FAD/NAD(P)-binding domain - no_errors 141 3 2.08 53 24 31.17 33 0 0.00 +ATP11C 0 genome.wustl.edu 37 X 138813876 138813876 + Silent SNP G G A TCGA-AB-2830-03B-01W-0728-08 TCGA-AB-2830-11B-01W-0728-08 G G G A G G Verified Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq 1 dbGAP Illumina HiSeq f72fb885-99dd-486a-8f06-cf886c085f60 303971a6-646d-43e9-aa4c-18a133db1161 X 138641542 138641542 G A SNP ATP11C NM_173694.1 human genbank 54_36p -1 validated silent c.3336 p.S1112 0.956 NULL HMMPfam_E1-E2_ATPase,PatternScan_ATPASE_E1_E2,superfamily_HAD-like,superfamily_Calcium ATPase transduction domain A,superfamily_Metal cation-transporting ATPase ATP-binding domain N - no_errors 62 0 0.00 96 15 13.51 4 0 0.00 +MECR 0 genome.wustl.edu 37 1 29543130 29543130 + Missense_Mutation SNP T T C TCGA-AB-2830-03B-01W-0728-08 TCGA-AB-2830-11B-01W-0728-08 T T T C T T Verified Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq 1 dbGAP Illumina HiSeq f72fb885-99dd-486a-8f06-cf886c085f60 303971a6-646d-43e9-aa4c-18a133db1161 1 29415717 29415717 T C SNP MECR NM_016011.1 human genbank 54_36p -1 validated missense c.244 p.I82V 0.997 superfamily_GroES-like,HMMPfam_ADH_N superfamily_GroES-like,HMMPfam_ADH_zinc_N,HMMPfam_ADH_N,superfamily_NAD(P)-binding Rossmann-fold domains - no_errors 290 4 1.36 59 18 23.38 15 13 46.43 +DNMT3A 0 genome.wustl.edu 37 2 25457242 25457242 + Missense_Mutation SNP C C G TCGA-AB-2830-03B-01W-0728-08 TCGA-AB-2830-11B-01W-0728-08 C C C G C C Verified Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq 1 dbGAP Illumina HiSeq f72fb885-99dd-486a-8f06-cf886c085f60 303971a6-646d-43e9-aa4c-18a133db1161 2 25310746 25310746 C G SNP DNMT3A NM_022552.3 human genbank 54_36p -1 reviewed missense c.2645 p.R882P 1.000 superfamily_S-adenosyl-L-methionine-dependent methyltransferases HMMPfam_PWWP,HMMSmart_SM00293,HMMPfam_DNA_methylase,superfamily_FYVE/PHD zinc finger,PatternScan_C5_MTASE_1,superfamily_S-adenosyl-L-methionine-dependent methyltransferases,superfamily_Tudor/PWWP/MBT - no_errors 155 12 7.14 48 13 21.31 37 23 37.70 +SH3BP4 0 genome.wustl.edu 37 2 235950773 235950773 + Missense_Mutation SNP G G A TCGA-AB-2830-03B-01W-0728-08 TCGA-AB-2830-11B-01W-0728-08 G G G A G G Verified Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq 1 dbGAP Illumina HiSeq f72fb885-99dd-486a-8f06-cf886c085f60 303971a6-646d-43e9-aa4c-18a133db1161 2 235615512 235615512 G A SNP SH3BP4 NM_014521.2 human genbank 54_36p +1 reviewed missense c.1360 p.V454M 0.948 NULL HMMPfam_SH3_1,HMMSmart_SM00326,superfamily_SH3-domain,HMMPfam_SH3_2 - no_errors 22 0 0.00 50 10 16.67 NA NA NA +THRB 0 genome.wustl.edu 37 3 24169122 24169122 + Missense_Mutation SNP G G A rs121918697 TCGA-AB-2830-03B-01W-0728-08 TCGA-AB-2830-11B-01W-0728-08 G G G A G G Verified Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq 1 dbGAP Illumina HiSeq f72fb885-99dd-486a-8f06-cf886c085f60 303971a6-646d-43e9-aa4c-18a133db1161 3 24144126 24144126 G A SNP THRB NM_000461.4 human genbank 54_36p -1 reviewed missense c.1012 p.R338W 0.991 HMMPfam_Hormone_recep,HMMSmart_SM00430,superfamily_Nuclear receptor ligand-binding domain HMMPfam_Hormone_recep,HMMSmart_SM00430,HMMPfam_zf-C4,HMMSmart_SM00399,PatternScan_NUCLEAR_REC_DBD_1,superfamily_Nuclear receptor ligand-binding domain,superfamily_Glucocorticoid receptor-like (DNA-binding domain) - no_errors 117 11 8.59 86 19 18.10 NA NA NA +HIVEP2 0 genome.wustl.edu 37 6 143093951 143093951 + Missense_Mutation SNP C C T TCGA-AB-2830-03B-01W-0728-08 TCGA-AB-2830-11B-01W-0728-08 C C C T C C Verified Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq 1 dbGAP Illumina HiSeq f72fb885-99dd-486a-8f06-cf886c085f60 303971a6-646d-43e9-aa4c-18a133db1161 6 143135644 143135644 C T SNP HIVEP2 NM_006734.3 human genbank 54_36p -1 provisional missense c.1925 p.R642Q 0.983 NULL HMMPfam_zf-C2H2,PatternScan_ZINC_FINGER_C2H2_1,HMMSmart_ZnF_C2H2,superfamily_SSF57667 - no_errors 46 4 7.84 62 33 34.74 18 3 14.29 +FAM208B 0 genome.wustl.edu 37 10 5772585 5772585 + Missense_Mutation SNP G G A TCGA-AB-2830-03B-01W-0728-08 TCGA-AB-2830-11B-01W-0728-08 G G G A G G Verified Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq 1 dbGAP Illumina HiSeq f72fb885-99dd-486a-8f06-cf886c085f60 303971a6-646d-43e9-aa4c-18a133db1161 10 5812591 5812591 G A SNP C10orf18 NM_017782.3 human genbank 54_36p +1 validated missense c.623 p.R208H 0.005 NULL NULL - no_errors 77 0 0.00 72 21 22.58 19 18 48.65 +PHC1P1 0 genome.wustl.edu 37 12 55806130 55806130 + Silent SNP G G A TCGA-AB-2830-03B-01W-0728-08 TCGA-AB-2830-11B-01W-0728-08 G G G A G G Verified Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq 1 dbGAP Illumina HiSeq f72fb885-99dd-486a-8f06-cf886c085f60 303971a6-646d-43e9-aa4c-18a133db1161 12 54092397 54092397 G A SNP PHC1B ENST00000326184 human ensembl 54_36p -1 known silent c.2391 p.L797 0.250 HMMPfam_zf-FCS HMMPfam_SAM_1,HMMSmart_SM00454,HMMPfam_zf-FCS,superfamily_SAM/Pointed domain - no_errors 16 1 5.88 25 11 30.56 41 0 0.00 +MAPKBP1 0 genome.wustl.edu 37 15 42104229 42104229 + Silent SNP G G A TCGA-AB-2830-03B-01W-0728-08 TCGA-AB-2830-11B-01W-0728-08 G G G A G G Verified Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq 1 dbGAP Illumina HiSeq f72fb885-99dd-486a-8f06-cf886c085f60 303971a6-646d-43e9-aa4c-18a133db1161 15 39891521 39891521 G A SNP MAPKBP1 NM_014994.1 human genbank 54_36p +1 validated silent c.402 p.K134 0.999 HMMSmart_SM00320,superfamily_WD40 repeat-like,HMMPfam_WD40 HMMSmart_SM00320,PatternScan_PTS_HPR_SER,superfamily_WD40 repeat-like,HMMPfam_WD40 - no_errors 260 11 4.06 65 33 33.67 24 32 57.14 +ABCC11 0 genome.wustl.edu 37 16 48244997 48244997 + Silent SNP G G A TCGA-AB-2830-03B-01W-0728-08 TCGA-AB-2830-11B-01W-0728-08 G G G A G G Verified Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq 1 dbGAP Illumina HiSeq f72fb885-99dd-486a-8f06-cf886c085f60 303971a6-646d-43e9-aa4c-18a133db1161 16 46802498 46802498 G A SNP ABCC11 NM_032583.3 human genbank 54_36p -1 reviewed silent c.1470 p.I490 0.000 superfamily_Multidrug resistance ABC transporter MsbA N-terminal domain HMMPfam_ABC_membrane,HMMPfam_ABC_tran,HMMSmart_SM00382,superfamily_Multidrug resistance ABC transporter MsbA N-terminal domain,PatternScan_ABC_TRANSPORTER_1,superfamily_P-loop containing nucleoside triphosphate hydrolases - no_errors 184 17 8.42 117 61 34.27 NA NA NA +TUBGCP6 0 genome.wustl.edu 37 22 50671779 50671779 + Missense_Mutation SNP A A G TCGA-AB-2830-03B-01W-0728-08 TCGA-AB-2830-11B-01W-0728-08 A A A G A A Verified Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq 1 dbGAP Illumina HiSeq f72fb885-99dd-486a-8f06-cf886c085f60 303971a6-646d-43e9-aa4c-18a133db1161 22 49013906 49013906 A G SNP TUBGCP6 NM_020461.3 human genbank 54_36p -1 reviewed missense c.1082 p.I361T 0.999 HMMPfam_Spc97_Spc98 HMMPfam_Spc97_Spc98 - no_errors 38 1 2.56 30 12 28.57 68 50 42.37 +TET2 0 genome.wustl.edu 37 4 106190863 106190864 + Frame_Shift_Ins INS - - G TCGA-AB-2830-03B-01W-0728-08 TCGA-AB-2830-11B-01W-0728-08 - - - G - - Verified Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq 1 dbGAP Illumina HiSeq f72fb885-99dd-486a-8f06-cf886c085f60 303971a6-646d-43e9-aa4c-18a133db1161 4 106410312 106410313 - G INS TET2 ENST00000265149 human ensembl 54_36p +1 known frame_shift_ins c.547_548 p.A183fs 1.000:1.000 NULL NULL - no_start_codon 30 0 0.00 98 0 0.00 12 0 0.00 +TET2 0 genome.wustl.edu 37 4 106193855 106193855 + Frame_Shift_Del DEL A A - TCGA-AB-2830-03B-01W-0728-08 TCGA-AB-2830-11B-01W-0728-08 A A A - A A Verified Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq 1 dbGAP Illumina HiSeq f72fb885-99dd-486a-8f06-cf886c085f60 303971a6-646d-43e9-aa4c-18a133db1161 4 106413304 106413304 A - DEL TET2 ENST00000265149 human ensembl 54_36p +1 known frame_shift_del c.723 p.K241fs 0.000 NULL NULL - no_start_codon 36 0 0.00 123 0 0.00 35 0 0.00 +FLT3 0 genome.wustl.edu 37 13 28608242 28608243 + In_Frame_Ins INS - - ACTCCCATTTGAGATCATATTCATATTCTCTGAAATCAACGTAGAAGTACTCATTACCCCCTCGGGGGG TCGA-AB-2830-03B-01W-0728-08 TCGA-AB-2830-11B-01W-0728-08 - - - ACTCCCATTTGAGATCATATTCATATTCTCTGAAATCAACGTAGAAGTACTCATTACCCCCTCGGGGGG - - Verified Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq 1 dbGAP Illumina HiSeq f72fb885-99dd-486a-8f06-cf886c085f60 303971a6-646d-43e9-aa4c-18a133db1161 13 27506242 27506243 - ACTCCCATTTGAGATCATATTCATATTCTCTGAAATCAACGTAGAAGTACTCATTACCCCCTCGGGGGG INS FLT3 NM_004119.2 human genbank 54_36p -1 reviewed in_frame_ins c.1814_1813 p.605in_frame_insSPRGGNEYFYVDFREYEYDLKWE 1.000:1.000 superfamily_Kinase_like HMMPfam_Pkinase_Tyr,HMMSmart_TyrKc,PatternScan_RECEPTOR_TYR_KIN_III,PatternScan_PROTEIN_KINASE_TYR,superfamily_Kinase_like,HMMPfam_ig,PatternScan_PROTEIN_KINASE_ATP,superfamily_SSF48726 - no_errors NA NA NA NA NA NA NA NA NA +CD109 0 genome.wustl.edu 37 6 74516567 74516567 + Missense_Mutation SNP G G T TCGA-AB-2831-03A-01W-0726-08 TCGA-AB-2831-11A-01W-0727-08 G G G T G G Verified Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq 1 dbGAP Illumina HiSeq 9eba94fa-673a-44d7-b89a-45c68786815a 30b98565-39a1-44d6-b827-a48d726f57f3 6 74573288 74573288 G T SNP CD109 NM_133493.3 human genbank 54_36p +1 validated missense c.2961 p.W987C 1.000 superfamily_Terpenoid cyclases/Protein prenyltransferases,HMMPfam_A2M_comp HMMPfam_A2M,HMMPfam_A2M_N,superfamily_Terpenoid cyclases/Protein prenyltransferases,HMMPfam_A2M_recep,superfamily_Alpha-macroglobulin receptor domain,HMMPfam_A2M_N_2,HMMPfam_A2M_comp,HMMPfam_Thiol-ester_cl,PatternScan_ALPHA_2_MACROGLOBULIN - no_errors 70 1 1.41 95 15 13.51 NA NA NA +MAGI2 0 genome.wustl.edu 37 7 77649085 77649085 + Silent SNP C C T TCGA-AB-2831-03A-01W-0726-08 TCGA-AB-2831-11A-01W-0727-08 C C C T C C Verified Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq 1 dbGAP Illumina HiSeq 9eba94fa-673a-44d7-b89a-45c68786815a 30b98565-39a1-44d6-b827-a48d726f57f3 7 77487021 77487021 C T SNP MAGI2 NM_012301.3 human genbank 54_36p -1 reviewed silent c.3915 p.Q1305 1.000 NULL HMMPfam_WW,HMMSmart_SM00456,PatternScan_WW_DOMAIN_1,superfamily_WW domain,HMMPfam_PDZ,HMMSmart_SM00228,superfamily_PDZ domain-like,HMMPfam_Guanylate_kin,HMMSmart_SM00072,PatternScan_GUANYLATE_KINASE_1,superfamily_P-loop containing nucleoside triphosphate hydrolases - no_errors 21 1 4.55 14 8 36.36 NA NA NA +C10orf28 0 genome.wustl.edu 37 10 99969120 99969120 + Missense_Mutation SNP G G A TCGA-AB-2831-03A-01W-0726-08 TCGA-AB-2831-11A-01W-0727-08 G G G A G G Verified Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq 1 dbGAP Illumina HiSeq 9eba94fa-673a-44d7-b89a-45c68786815a 30b98565-39a1-44d6-b827-a48d726f57f3 10 99959110 99959110 G A SNP C10orf28 NM_014472.4 human genbank 54_36p +1 validated missense c.1249 p.G417R 0.028 NULL NULL - no_errors 61 1 1.61 148 21 12.35 NA NA NA +DNMT3A 0 genome.wustl.edu 37 2 25463163 25463172 + Frame_Shift_Del DEL TCGAGGTATA TCGAGGTATA - TCGA-AB-2831-03A-01W-0726-08 TCGA-AB-2831-11A-01W-0727-08 TCGAGGTATA TCGAGGTATA TCGAGGTATA - TCGAGGTATA TCGAGGTATA Verified Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq 1 dbGAP Illumina HiSeq 9eba94fa-673a-44d7-b89a-45c68786815a 30b98565-39a1-44d6-b827-a48d726f57f3 2 25316667 25316676 TCGAGGTATA - DEL DNMT3A NM_022552.3 human genbank 54_36p -1 reviewed frame_shift_del c.2330_2321 p.E774fs 0.991:0.997:0.999:0.999:0.999:1.000:1.000:1.000:1.000:1.000 superfamily_S-adenosyl-L-methionine-dependent methyltransferases HMMPfam_PWWP,HMMSmart_SM00293,HMMPfam_DNA_methylase,superfamily_FYVE/PHD zinc finger,PatternScan_C5_MTASE_1,superfamily_S-adenosyl-L-methionine-dependent methyltransferases,superfamily_Tudor/PWWP/MBT - no_errors NA NA NA NA NA NA NA NA NA +GJB4 0 genome.wustl.edu 37 1 35227148 35227148 + Missense_Mutation SNP G G A TCGA-AB-2832-03B-01W-0728-08 TCGA-AB-2832-11B-01W-0729-08 G G G A G G Verified Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq 1 dbGAP Illumina HiSeq c6730725-42e7-4f23-a91d-d1c02c2812d0 d61a25b6-8cb0-4519-88fd-2995333f959c 1 34999735 34999735 G A SNP GJB4 NM_153212.1 human genbank 54_36p +1 validated missense c.293 p.R98H 0.975 HMMPfam_Connexin HMMPfam_Connexin,HMMSmart_SM00037,PatternScan_CONNEXINS_1,PatternScan_CONNEXINS_2,HMMPfam_Connexin_CCC - no_errors 49 2 3.92 69 51 42.15 NA NA NA +LOC389000 0 genome.wustl.edu 37 2 92076569 92076569 + Missense_Mutation SNP A A G TCGA-AB-2832-03B-01W-0728-08 TCGA-AB-2832-11B-01W-0729-08 A A A G A A Verified Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq 1 dbGAP Illumina HiSeq c6730725-42e7-4f23-a91d-d1c02c2812d0 d61a25b6-8cb0-4519-88fd-2995333f959c 2 91440296 91440296 A G SNP LOC389000 XM_371534.1 human genbank 54_36p -1 model missense c.1130 p.L377P 1.000 HMMPfam_Na_H_Exchanger HMMPfam_Na_H_Exchanger - pseudogene 30 1 3.23 78 18 18.75 1 0 0.00 +ZNF394 0 genome.wustl.edu 37 7 99091249 99091249 + Missense_Mutation SNP C C T TCGA-AB-2832-03B-01W-0728-08 TCGA-AB-2832-11B-01W-0729-08 C C C T C C Verified Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq 1 dbGAP Illumina HiSeq c6730725-42e7-4f23-a91d-d1c02c2812d0 d61a25b6-8cb0-4519-88fd-2995333f959c 7 98929185 98929185 C T SNP ZNF394 NM_032164.2 human genbank 54_36p -1 provisional missense c.1589 p.C530Y 1.000 HMMPfam_zf-C2H2,PatternScan_ZINC_FINGER_C2H2_1,HMMSmart_SM00355,superfamily_C2H2 and C2HC zinc fingers HMMPfam_KRAB,HMMSmart_SM00349,superfamily_KRAB domain (Kruppel-associated box Pfam 01352),HMMPfam_SCAN,HMMSmart_SM00431,HMMPfam_zf-C2H2,PatternScan_ZINC_FINGER_C2H2_1,HMMSmart_SM00355,superfamily_C2H2 and C2HC zinc fingers - no_errors 281 20 6.64 153 94 37.90 86 94 52.22 +ZC3HC1 0 genome.wustl.edu 37 7 129666032 129666032 + Missense_Mutation SNP C C T TCGA-AB-2832-03B-01W-0728-08 TCGA-AB-2832-11B-01W-0729-08 C C C T C C Verified Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq 1 dbGAP Illumina HiSeq c6730725-42e7-4f23-a91d-d1c02c2812d0 d61a25b6-8cb0-4519-88fd-2995333f959c 7 129453268 129453268 C T SNP ZC3HC1 NM_016478.3 human genbank 54_36p -1 validated missense c.742 p.A248T 1.000 NULL HMMPfam_zf-C3HC - no_errors 62 4 6.06 47 38 43.68 13 15 53.57 +PTAR1 0 genome.wustl.edu 37 9 72347215 72347215 + Missense_Mutation SNP G G A TCGA-AB-2832-03B-01W-0728-08 TCGA-AB-2832-11B-01W-0729-08 G G G A G G Verified Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq 1 dbGAP Illumina HiSeq c6730725-42e7-4f23-a91d-d1c02c2812d0 d61a25b6-8cb0-4519-88fd-2995333f959c 9 71537035 71537035 G A SNP PTAR1 NM_001099666.1 human genbank 54_36p -1 validated missense c.482 p.T161I 0.715 superfamily_Prenyl_trans HMMPfam_PPTA,superfamily_Prenyl_trans - no_errors 97 7 6.73 97 88 47.31 7 8 53.33 +PLEKHH1 0 genome.wustl.edu 37 14 68040536 68040536 + Missense_Mutation SNP C C T TCGA-AB-2832-03B-01W-0728-08 TCGA-AB-2832-11B-01W-0729-08 C C C T C C Verified Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq 1 dbGAP Illumina HiSeq c6730725-42e7-4f23-a91d-d1c02c2812d0 d61a25b6-8cb0-4519-88fd-2995333f959c 14 67110289 67110289 C T SNP PLEKHH1 NM_020715.2 human genbank 54_36p +1 validated missense c.1858 p.P620S 1.000 HMMPfam_PH,HMMSmart_SM00233,superfamily_PH domain-like HMMPfam_MyTH4,HMMSmart_SM00139,HMMPfam_PH,HMMSmart_SM00233,HMMPfam_FERM_M,superfamily_Second domain of FERM,HMMSmart_SM00295,superfamily_PH domain-like - no_errors 100 8 7.41 114 69 37.10 NA NA NA +VASH1 0 genome.wustl.edu 37 14 77244360 77244360 + Missense_Mutation SNP C C T TCGA-AB-2832-03B-01W-0728-08 TCGA-AB-2832-11B-01W-0729-08 C C C T C C Verified Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq 1 dbGAP Illumina HiSeq c6730725-42e7-4f23-a91d-d1c02c2812d0 d61a25b6-8cb0-4519-88fd-2995333f959c 14 76314113 76314113 C T SNP VASH1 NM_014909.4 human genbank 54_36p +1 validated missense c.971 p.S324F 1.000 NULL NULL - no_errors 38 2 5.00 34 38 52.05 9 11 55.00 +ADPGK 0 genome.wustl.edu 37 15 73045153 73045153 + Silent SNP A A G TCGA-AB-2832-03B-01W-0728-08 TCGA-AB-2832-11B-01W-0729-08 A A A G A A Verified Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq 1 dbGAP Illumina HiSeq c6730725-42e7-4f23-a91d-d1c02c2812d0 d61a25b6-8cb0-4519-88fd-2995333f959c 15 70832206 70832206 A G SNP ADPGK NM_031284.4 human genbank 54_36p -1 validated silent c.1020 p.S340 0.316 HMMPfam_ADP_PFK_GK,superfamily_SSF53613 HMMPfam_ADP_PFK_GK,superfamily_SSF53613 - no_errors 64 3 4.48 83 60 41.67 114 125 52.30 +LOC728138 0 genome.wustl.edu 37 16 15083329 15083329 + Missense_Mutation SNP T T C TCGA-AB-2832-03B-01W-0728-08 TCGA-AB-2832-11B-01W-0729-08 T T T C T T Verified Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq 1 dbGAP Illumina HiSeq c6730725-42e7-4f23-a91d-d1c02c2812d0 d61a25b6-8cb0-4519-88fd-2995333f959c 16 14990830 14990830 T C SNP LOC728138 XM_001128282.2 human genbank 54_36p -1 model missense c.689 p.K230R 0.200 HMMPfam_DUF2152 HMMPfam_DUF2152 - no_errors 26 0 0.00 42 11 20.75 34 1 2.86 +PKD1L2 0 genome.wustl.edu 37 16 81161616 81161616 + Silent SNP C C A TCGA-AB-2832-03B-01W-0728-08 TCGA-AB-2832-11B-01W-0729-08 C C C A C C Verified Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq 1 dbGAP Illumina HiSeq c6730725-42e7-4f23-a91d-d1c02c2812d0 d61a25b6-8cb0-4519-88fd-2995333f959c 16 79719117 79719117 C A SNP PKD1L2 ENST00000299598 human ensembl 54_36p -1 known silent c.6108 p.V2036 1.000 HMMPfam_PKD_channel HMMPfam_GPS,HMMSmart_SM00303,PatternScan_CHANNEL_COLICIN,HMMPfam_PLAT,HMMSmart_SM00308,HMMPfam_Lectin_C,HMMSmart_SM00034,superfamily_Lipase/lipooxygenase domain (PLAT/LH2 domain),HMMPfam_PKD_channel,superfamily_C-type lectin-like - no_errors 226 13 5.44 169 138 44.52 NA NA NA +ZNF486 0 genome.wustl.edu 37 19 20308074 20308074 + Missense_Mutation SNP A A G TCGA-AB-2832-03B-01W-0728-08 TCGA-AB-2832-11B-01W-0729-08 A A A G A A Verified Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq 1 dbGAP Illumina HiSeq c6730725-42e7-4f23-a91d-d1c02c2812d0 d61a25b6-8cb0-4519-88fd-2995333f959c 19 20169074 20169074 A G SNP ZNF486 NM_052852.2 human genbank 54_36p +1 provisional missense c.555 p.I185M 0.281 superfamily_SSF57667 HMMPfam_KRAB,HMMSmart_KRAB,superfamily_Krueppel-associated_box,HMMPfam_zf-C2H2,PatternScan_ZINC_FINGER_C2H2_1,HMMSmart_ZnF_C2H2,superfamily_SSF57667 - no_errors 57 0 0.00 68 59 46.46 NA NA NA +SREBF2 0 genome.wustl.edu 37 22 42274026 42274026 + Missense_Mutation SNP G G A TCGA-AB-2832-03B-01W-0728-08 TCGA-AB-2832-11B-01W-0729-08 G G G A G G Verified Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq 1 dbGAP Illumina HiSeq c6730725-42e7-4f23-a91d-d1c02c2812d0 d61a25b6-8cb0-4519-88fd-2995333f959c 22 40603972 40603972 G A SNP SREBF2 NM_004599.2 human genbank 54_36p +1 reviewed missense c.1660 p.V554M 1.000 NULL HMMPfam_HLH,HMMSmart_HLH,superfamily_HLH_basic - no_errors 91 6 6.19 79 50 38.76 59 71 54.62 +CROCC 0 genome.wustl.edu 37 1 17250900 17250900 + Missense_Mutation SNP G G A TCGA-AB-2833-03B-01W-0728-08 TCGA-AB-2833-11B-01W-0729-08 G G G A G G Verified Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq 1 dbGAP Illumina HiSeq 6e60054b-790c-4e57-a6cf-e6d166991cf3 8669a6af-fd9d-454a-8a97-87c683093614 1 17123487 17123487 G A SNP CROCC NM_014675.3 human genbank 54_36p +1 validated missense c.277 p.V93M 0.916 NULL superfamily_Prefoldin - no_errors 33 2 5.71 72 25 25.77 2 2 50.00 +DNMT3A 0 genome.wustl.edu 37 2 25457242 25457242 + Missense_Mutation SNP C C T TCGA-AB-2833-03B-01W-0728-08 TCGA-AB-2833-11B-01W-0729-08 C C C T C C Verified Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq 1 dbGAP Illumina HiSeq 6e60054b-790c-4e57-a6cf-e6d166991cf3 8669a6af-fd9d-454a-8a97-87c683093614 2 25310746 25310746 C T SNP DNMT3A NM_022552.3 human genbank 54_36p -1 reviewed missense c.2645 p.R882H 1.000 superfamily_S-adenosyl-L-methionine-dependent methyltransferases HMMPfam_PWWP,HMMSmart_SM00293,HMMPfam_DNA_methylase,superfamily_FYVE/PHD zinc finger,PatternScan_C5_MTASE_1,superfamily_S-adenosyl-L-methionine-dependent methyltransferases,superfamily_Tudor/PWWP/MBT - no_errors 44 16 26.23 58 61 51.26 12 25 67.57 +STXBP5L 0 genome.wustl.edu 37 3 121097619 121097619 + Missense_Mutation SNP C C T TCGA-AB-2833-03B-01W-0728-08 TCGA-AB-2833-11B-01W-0729-08 C C C T C C Verified Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq 1 dbGAP Illumina HiSeq 6e60054b-790c-4e57-a6cf-e6d166991cf3 8669a6af-fd9d-454a-8a97-87c683093614 3 122580309 122580309 C T SNP STXBP5L NM_014980.2 human genbank 54_36p +1 validated missense c.2305 p.R769C 1.000 NULL HMMSmart_SM00320,superfamily_WD40 repeat-like,HMMPfam_LLGL,PatternScan_WD_REPEATS_1,HMMPfam_WD40 - no_errors 105 15 12.40 48 34 41.46 NA NA NA +ADCY5 0 genome.wustl.edu 37 3 123071313 123071313 + Missense_Mutation SNP G G A TCGA-AB-2833-03B-01W-0728-08 TCGA-AB-2833-11B-01W-0729-08 G G G A G G Verified Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq 1 dbGAP Illumina HiSeq 6e60054b-790c-4e57-a6cf-e6d166991cf3 8669a6af-fd9d-454a-8a97-87c683093614 3 124554003 124554003 G A SNP ADCY5 NM_183357.1 human genbank 54_36p -1 validated missense c.1250 p.A417V 0.999 NULL HMMPfam_Guanylate_cyc,HMMSmart_CYCc,superfamily_A/G_cyclase,HMMPfam_DUF1053,PatternScan_GUANYLATE_CYCLASE_1 - no_errors 58 4 6.35 43 32 42.67 NA NA NA +SYT15 0 genome.wustl.edu 37 10 46968665 46968665 + Silent SNP G G A TCGA-AB-2833-03B-01W-0728-08 TCGA-AB-2833-11B-01W-0729-08 G G G A G G Verified Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq 1 dbGAP Illumina HiSeq 6e60054b-790c-4e57-a6cf-e6d166991cf3 8669a6af-fd9d-454a-8a97-87c683093614 10 46388671 46388671 G A SNP SYT15 NM_031912.3 human genbank 54_36p -1 reviewed silent c.271 p.L91 0.005 NULL HMMPfam_C2,HMMSmart_SM00239,superfamily_C2 domain (Calcium/lipid-binding domain CaLB),PatternScan_CNMP_BINDING_1 - no_errors 26 2 7.14 92 25 21.37 1 0 0.00 +TSGA10IP 0 genome.wustl.edu 37 11 65715566 65715566 + Silent SNP C C T TCGA-AB-2833-03B-01W-0728-08 TCGA-AB-2833-11B-01W-0729-08 C C C T C C Verified Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq 1 dbGAP Illumina HiSeq 6e60054b-790c-4e57-a6cf-e6d166991cf3 8669a6af-fd9d-454a-8a97-87c683093614 11 65472142 65472142 C T SNP TSGA10IP NM_152762.2 human genbank 54_36p +1 validated silent c.1098 p.F366 0.005 NULL NULL - pseudogene 143 14 8.86 107 56 34.36 NA NA NA +DNAH10 0 genome.wustl.edu 37 12 124298029 124298029 + Missense_Mutation SNP C C T TCGA-AB-2833-03B-01W-0728-08 TCGA-AB-2833-11B-01W-0729-08 C C C T C C Verified Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq 1 dbGAP Illumina HiSeq 6e60054b-790c-4e57-a6cf-e6d166991cf3 8669a6af-fd9d-454a-8a97-87c683093614 12 122863982 122863982 C T SNP DNAH10 NM_207437.3 human genbank 54_36p +1 validated missense c.2563 p.R855C 0.078 NULL HMMPfam_DHC_N1 - no_errors 154 25 13.81 107 78 42.16 NA NA NA +CBFB 0 genome.wustl.edu 37 16 67070608 67070608 + Nonsense_Mutation SNP C C T TCGA-AB-2833-03B-01W-0728-08 TCGA-AB-2833-11B-01W-0729-08 C C C T C C Verified Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq 1 dbGAP Illumina HiSeq 6e60054b-790c-4e57-a6cf-e6d166991cf3 8669a6af-fd9d-454a-8a97-87c683093614 16 65628109 65628109 C T SNP CBFB NM_022845.2 human genbank 54_36p +1 reviewed nonsense c.232 p.R78* 1.000 HMMPfam_CBF_beta,superfamily_CBF_beta HMMPfam_CBF_beta,superfamily_CBF_beta - no_errors 54 8 12.90 37 42 53.16 20 6 22.22 +DNMT1 0 genome.wustl.edu 37 19 10287990 10287990 + Missense_Mutation SNP T T A TCGA-AB-2833-03B-01W-0728-08 TCGA-AB-2833-11B-01W-0729-08 T T T A T T Verified Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq 1 dbGAP Illumina HiSeq 6e60054b-790c-4e57-a6cf-e6d166991cf3 8669a6af-fd9d-454a-8a97-87c683093614 19 10148990 10148990 T A SNP DNMT1 NM_001379.1 human genbank 54_36p -1 reviewed missense c.499 p.I167F 0.993 NULL HMMPfam_BAH,HMMSmart_SM00439,HMMPfam_DNA_methylase,HMMPfam_zf-CXXC,HMMPfam_DMAP_binding,PatternScan_C5_MTASE_1,PatternScan_C5_MTASE_2,superfamily_S-adenosyl-L-methionine-dependent methyltransferases - no_errors 173 25 12.56 64 68 51.52 97 54 35.76 +PTPRT 0 genome.wustl.edu 37 20 40710553 40710553 + Missense_Mutation SNP C C T TCGA-AB-2833-03B-01W-0728-08 TCGA-AB-2833-11B-01W-0729-08 C C C T C C Verified Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq 1 dbGAP Illumina HiSeq 6e60054b-790c-4e57-a6cf-e6d166991cf3 8669a6af-fd9d-454a-8a97-87c683093614 20 40143967 40143967 C T SNP PTPRT NM_133170.5 human genbank 54_36p -1 reviewed missense c.4298 p.R1433H 0.836 HMMPfam_Y_phosphatase,HMMSmart_SM00194,HMMSmart_SM00404,superfamily_(Phosphotyrosine protein) phosphatases II HMMPfam_Y_phosphatase,HMMSmart_SM00194,HMMPfam_MAM,HMMSmart_SM00137,PatternScan_MAM_1,HMMSmart_SM00404,HMMPfam_fn3,HMMSmart_SM00060,superfamily_Fibronectin type III,PatternScan_TYR_PHOSPHATASE_1,superfamily_Immunoglobulin,superfamily_(Phosphotyrosine protein) phosphatases II - no_errors 116 20 14.60 67 63 48.09 NA NA NA +FLT3 0 genome.wustl.edu 37 13 28592640 28592640 + Missense_Mutation SNP A A T rs121913487 TCGA-AB-2834-03B-01W-0728-08 TCGA-AB-2834-11B-01W-0729-08 A A A T A A Verified Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq 1 dbGAP Illumina HiSeq 9a081d0d-997c-48b7-9e35-de3c46b1e8ff e5cfc755-0cb2-4b2c-bff8-08be43173f45 13 27490640 27490640 A T SNP FLT3 NM_004119.2 human genbank 54_36p -1 reviewed missense c.2505 p.D835E 0.991 HMMPfam_Pkinase_Tyr,HMMSmart_TyrKc,superfamily_Kinase_like HMMPfam_Pkinase_Tyr,HMMSmart_TyrKc,PatternScan_RECEPTOR_TYR_KIN_III,PatternScan_PROTEIN_KINASE_TYR,superfamily_Kinase_like,HMMPfam_ig,PatternScan_PROTEIN_KINASE_ATP,superfamily_SSF48726 - no_errors 88 13 12.75 131 71 34.63 120 92 43.40 +HSPA4 0 genome.wustl.edu 37 5 132431896 132431896 + Nonsense_Mutation SNP T T A TCGA-AB-2835-03B-01W-0728-08 TCGA-AB-2835-11B-01W-0729-08 T T T A T T Verified Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq 1 dbGAP Illumina HiSeq 498a2e71-576f-472a-a707-fb2fa2293b75 3580555f-6404-4cb1-b43f-a2baddf91340 5 132459795 132459795 T A SNP HSPA4 NM_002154.3 human genbank 54_36p +1 validated nonsense c.1757 p.L586* 0.003 HMMPfam_HSP70,superfamily_SSF100920 HMMPfam_HSP70,PatternScan_HSP70_1,PatternScan_HSP70_2,PatternScan_HSP70_3,superfamily_SSF100920,superfamily_SSF100934,superfamily_SSF53067 - no_errors 126 29 18.47 90 79 46.20 55 11 16.67 +KLRK1 0 genome.wustl.edu 37 12 10541397 10541397 + Missense_Mutation SNP G G A TCGA-AB-2835-03B-01W-0728-08 TCGA-AB-2835-11B-01W-0729-08 G G G A G G Verified Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq 1 dbGAP Illumina HiSeq 498a2e71-576f-472a-a707-fb2fa2293b75 3580555f-6404-4cb1-b43f-a2baddf91340 12 10432664 10432664 G A SNP KLRK1 NM_007360.2 human genbank 54_36p -1 reviewed missense c.13 p.R5C 0.003 NULL HMMPfam_Lectin_C,HMMSmart_SM00034,superfamily_C-type lectin-like - no_errors 132 20 13.16 86 55 38.46 0 1 100.00 +NPM1 0 genome.wustl.edu 37 5 170837547 170837548 + Frame_Shift_Ins INS - - TCTG TCGA-AB-2835-03B-01W-0728-08 TCGA-AB-2835-11B-01W-0729-08 - - - TCTG - - Verified Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq 1 dbGAP Illumina HiSeq 498a2e71-576f-472a-a707-fb2fa2293b75 3580555f-6404-4cb1-b43f-a2baddf91340 5 170770152 170770153 - TCTG INS NPM1 NM_002520.1 human genbank 54_36p +1 validated frame_shift_ins c.863_864 p.W288fs 1.000:1.000 NULL HMMPfam_Nucleoplasmin,superfamily_Nucleoplasmin-like core domain - no_errors NA NA NA NA NA NA NA NA NA +OLFML3 0 genome.wustl.edu 37 1 114522185 114522185 + Missense_Mutation SNP C C T TCGA-AB-2836-03B-01W-0728-08 TCGA-AB-2836-11B-01W-0729-08 C C C T C C Verified Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq 1 dbGAP Illumina HiSeq ba5e0b1b-e965-4176-97b4-cbca27098c8c 76f5942c-84ce-4ed0-9268-83e787908977 1 114323708 114323708 C T SNP OLFML3 NM_020190.2 human genbank 54_36p +1 validated missense c.47 p.S16L 0.000 NULL HMMPfam_OLF,HMMSmart_SM00284 - no_errors 182 0 0.00 159 29 15.34 NA NA NA +IKZF4 0 genome.wustl.edu 37 12 56417486 56417486 + Missense_Mutation SNP C C T TCGA-AB-2836-03B-01W-0728-08 TCGA-AB-2836-11B-01W-0729-08 C C C T C C Verified Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq 1 dbGAP Illumina HiSeq ba5e0b1b-e965-4176-97b4-cbca27098c8c 76f5942c-84ce-4ed0-9268-83e787908977 12 54703753 54703753 C T SNP IKZF4 NM_022465.3 human genbank 54_36p +1 validated missense c.119 p.P40L 1.000 NULL HMMPfam_zf-C2H2,PatternScan_ZINC_FINGER_C2H2_1,HMMSmart_SM00355,superfamily_C2H2 and C2HC zinc fingers - no_errors 172 0 0.00 121 20 14.08 3 1 25.00 +NPM1 0 genome.wustl.edu 37 5 170837543 170837544 + Frame_Shift_Ins INS - - TCTG TCGA-AB-2836-03B-01W-0728-08 TCGA-AB-2836-11B-01W-0729-08 - - - TCTG - - Verified Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq 1 dbGAP Illumina HiSeq ba5e0b1b-e965-4176-97b4-cbca27098c8c 76f5942c-84ce-4ed0-9268-83e787908977 5 170770148 170770149 - TCTG INS NPM1 NM_002520.1 human genbank 54_36p +1 validated frame_shift_ins c.859_860 p.W288fs 1.000:1.000 NULL HMMPfam_Nucleoplasmin,superfamily_Nucleoplasmin-like core domain - no_errors NA NA NA NA NA NA NA NA NA +FLT3 0 genome.wustl.edu 37 13 28608267 28608268 + In_Frame_Ins INS - - TTCTCTGAAATCAACGTAGAAGTACTCATTATC TCGA-AB-2836-03B-01W-0728-08 TCGA-AB-2836-11B-01W-0729-08 - - - TTCTCTGAAATCAACGTAGAAGTACTCATTATC - - Verified Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq 1 dbGAP Illumina HiSeq ba5e0b1b-e965-4176-97b4-cbca27098c8c 76f5942c-84ce-4ed0-9268-83e787908977 13 27506267 27506268 - TTCTCTGAAATCAACGTAGAAGTACTCATTATC INS FLT3 NM_004119.2 human genbank 54_36p -1 reviewed in_frame_ins c.1789_1788 p.596in_frame_insDNEYFYVDFRE 0.789:0.794 superfamily_Kinase_like HMMPfam_Pkinase_Tyr,HMMSmart_TyrKc,PatternScan_RECEPTOR_TYR_KIN_III,PatternScan_PROTEIN_KINASE_TYR,superfamily_Kinase_like,HMMPfam_ig,PatternScan_PROTEIN_KINASE_ATP,superfamily_SSF48726 - no_errors NA NA NA NA NA NA NA NA NA +LOC100132495 0 genome.wustl.edu 37 1 145252270 145252270 + Missense_Mutation SNP G G A TCGA-AB-2837-03B-01W-0728-08 TCGA-AB-2837-11B-01W-0729-08 G G G A G G Verified Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq 1 dbGAP Illumina HiSeq c789916d-9b96-4002-82b5-059ae3617d1f 44dd8e85-26a1-4a06-b8db-0ae0ea0c5eb0 1 143963627 143963627 G A SNP LOC100132495 XM_001722237.1 human genbank 54_36p +1 model missense c.380 p.R127K 0.016 NULL NULL - no_errors 3 1 25.00 42 12 21.82 4 1 20.00 +NPM1 0 genome.wustl.edu 37 5 170837543 170837544 + Frame_Shift_Ins INS - - TCTG TCGA-AB-2837-03B-01W-0728-08 TCGA-AB-2837-11B-01W-0729-08 - - - TCTG - - Verified Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq 1 dbGAP Illumina HiSeq c789916d-9b96-4002-82b5-059ae3617d1f 44dd8e85-26a1-4a06-b8db-0ae0ea0c5eb0 5 170770148 170770149 - TCTG INS NPM1 NM_002520.1 human genbank 54_36p +1 validated frame_shift_ins c.859_860 p.W288fs 1.000:1.000 NULL HMMPfam_Nucleoplasmin,superfamily_Nucleoplasmin-like core domain - no_errors NA NA NA NA NA NA NA NA NA +LOC100130134 0 genome.wustl.edu 37 X 89295110 89295110 + RNA SNP C C G TCGA-AB-2838-03A-01W-0726-08 TCGA-AB-2838-11A-01W-0727-08 C C C G C C Verified Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq 1 dbGAP Illumina HiSeq 5d0e7904-586a-4207-96aa-97c8daf3dd61 a9294e38-8585-47e2-b596-da4bb222433a X 89181766 89181766 C G SNP LOC100130134 XR_037810.1 human genbank 54_36p -1 model rna NULL NULL 1.000 - - - pseudogene 77 0 0.00 17 57 77.03 7 0 0.00 +PADI2 0 genome.wustl.edu 37 1 17418973 17418973 + Silent SNP G G A TCGA-AB-2838-03A-01W-0726-08 TCGA-AB-2838-11A-01W-0727-08 G G G A G G Verified Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq 1 dbGAP Illumina HiSeq 5d0e7904-586a-4207-96aa-97c8daf3dd61 a9294e38-8585-47e2-b596-da4bb222433a 1 17291560 17291560 G A SNP PADI2 NM_007365.2 human genbank 54_36p -1 reviewed silent c.585 p.P195 0.011 HMMPfam_PAD_M,superfamily_PAD_central superfamily_Cupredoxin,HMMPfam_PAD,HMMPfam_PAD_N,HMMPfam_PAD_M,superfamily_PAD_central,superfamily_SSF55909 - no_errors 94 1 1.03 47 28 37.33 40 10 20.00 +NRAS 0 genome.wustl.edu 37 1 115256528 115256528 + Missense_Mutation SNP T T A rs121913255 TCGA-AB-2838-03A-01W-0726-08 TCGA-AB-2838-11A-01W-0727-08 T T T A T T Verified Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq 1 dbGAP Illumina HiSeq 5d0e7904-586a-4207-96aa-97c8daf3dd61 a9294e38-8585-47e2-b596-da4bb222433a 1 115058051 115058051 T A SNP NRAS NM_002524.3 human genbank 54_36p -1 reviewed missense c.183 p.Q61H 1.000 HMMSmart_SM00173,HMMSmart_SM00174,HMMSmart_SM00175,HMMPfam_Ras,superfamily_P-loop containing nucleoside triphosphate hydrolases HMMSmart_SM00173,HMMSmart_SM00174,HMMSmart_SM00175,HMMPfam_Ras,superfamily_P-loop containing nucleoside triphosphate hydrolases - no_errors 95 1 1.03 77 29 26.85 77 39 33.62 +PYGO2 0 genome.wustl.edu 37 1 154931409 154931409 + Missense_Mutation SNP C C G TCGA-AB-2838-03A-01W-0726-08 TCGA-AB-2838-11A-01W-0727-08 C C C G C C Verified Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq 1 dbGAP Illumina HiSeq 5d0e7904-586a-4207-96aa-97c8daf3dd61 a9294e38-8585-47e2-b596-da4bb222433a 1 153198033 153198033 C G SNP PYGO2 NM_138300.3 human genbank 54_36p -1 validated missense c.1067 p.R356P 0.995 HMMSmart_SM00249,superfamily_FYVE/PHD zinc finger,PatternScan_ZF_PHD_1,HMMPfam_PHD HMMSmart_SM00249,superfamily_FYVE/PHD zinc finger,PatternScan_ZF_PHD_1,HMMPfam_PHD - no_errors 93 0 0.00 25 31 55.36 28 24 46.15 +SHC1 0 genome.wustl.edu 37 1 154938214 154938214 + Silent SNP C C G TCGA-AB-2838-03A-01W-0726-08 TCGA-AB-2838-11A-01W-0727-08 C C C G C C Verified Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq 1 dbGAP Illumina HiSeq 5d0e7904-586a-4207-96aa-97c8daf3dd61 a9294e38-8585-47e2-b596-da4bb222433a 1 153204838 153204838 C G SNP SHC1 NM_183001.1 human genbank 54_36p -1 validated silent c.1428 p.S476 0.000 superfamily_SH2 domain HMMPfam_SH2,HMMSmart_SM00252,HMMPfam_PID,HMMSmart_SM00462,superfamily_PH domain-like,superfamily_SH2 domain - no_errors 854 52 5.65 42 34 44.74 22 27 55.10 +ARHGEF11 0 genome.wustl.edu 37 1 156954161 156954161 + Missense_Mutation SNP G G A TCGA-AB-2838-03A-01W-0726-08 TCGA-AB-2838-11A-01W-0727-08 G G G A G G Verified Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq 1 dbGAP Illumina HiSeq 5d0e7904-586a-4207-96aa-97c8daf3dd61 a9294e38-8585-47e2-b596-da4bb222433a 1 155220785 155220785 G A SNP ARHGEF11 NM_198236.2 human genbank 54_36p -1 reviewed missense c.193 p.R65C 1.000 HMMPfam_PDZ,HMMSmart_PDZ,superfamily_PDZ HMMPfam_RhoGEF,HMMSmart_RhoGEF,superfamily_DH-domain,HMMSmart_RGS,HMMPfam_PDZ,HMMSmart_PDZ,superfamily_PDZ,HMMSmart_PH,HMMPfam_RGS-like,superfamily_Regulat_G_prot_signal_superfam,superfamily_SSF50729 - no_errors 160 0 0.00 76 31 28.97 5 4 44.44 +FAM5C 0 genome.wustl.edu 37 1 190068242 190068242 + Missense_Mutation SNP G G A TCGA-AB-2838-03A-01W-0726-08 TCGA-AB-2838-11A-01W-0727-08 G G G A G G Verified Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq 1 dbGAP Illumina HiSeq 5d0e7904-586a-4207-96aa-97c8daf3dd61 a9294e38-8585-47e2-b596-da4bb222433a 1 188334865 188334865 G A SNP FAM5C NM_199051.1 human genbank 54_36p -1 provisional missense c.1207 p.R403C 0.986 NULL HMMPfam_MACPF,HMMSmart_SM00457 - no_errors 77 1 1.28 14 11 42.31 NA NA NA +FAM5C 0 genome.wustl.edu 37 1 190250791 190250791 + Missense_Mutation SNP C C T TCGA-AB-2838-03A-01W-0726-08 TCGA-AB-2838-11A-01W-0727-08 C C C T C C Verified Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq 1 dbGAP Illumina HiSeq 5d0e7904-586a-4207-96aa-97c8daf3dd61 a9294e38-8585-47e2-b596-da4bb222433a 1 188517414 188517414 C T SNP FAM5C NM_199051.1 human genbank 54_36p -1 provisional missense c.326 p.R109H 1.000 HMMPfam_MACPF,HMMSmart_SM00457 HMMPfam_MACPF,HMMSmart_SM00457 - no_errors 62 0 0.00 21 14 38.89 NA NA NA +KLHL18 0 genome.wustl.edu 37 3 47385201 47385201 + Missense_Mutation SNP T T C TCGA-AB-2838-03A-01W-0726-08 TCGA-AB-2838-11A-01W-0727-08 T T T C T T Verified Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq 1 dbGAP Illumina HiSeq 5d0e7904-586a-4207-96aa-97c8daf3dd61 a9294e38-8585-47e2-b596-da4bb222433a 3 47360205 47360205 T C SNP KLHL18 NM_025010.4 human genbank 54_36p +1 validated missense c.1495 p.S499P 1.000 HMMPfam_Kelch_1,HMMSmart_SM00612,superfamily_Galactose oxidase central domain HMMSmart_SM00225,HMMPfam_Kelch_1,HMMSmart_SM00612,superfamily_Galactose oxidase central domain,superfamily_POZ domain,HMMPfam_BACK,HMMPfam_BTB - no_errors 112 0 0.00 67 49 42.24 13 14 51.85 +PLXNB1 0 genome.wustl.edu 37 3 48451927 48451927 + Silent SNP G G A TCGA-AB-2838-03A-01W-0726-08 TCGA-AB-2838-11A-01W-0727-08 G G G A G G Verified Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq 1 dbGAP Illumina HiSeq 5d0e7904-586a-4207-96aa-97c8daf3dd61 a9294e38-8585-47e2-b596-da4bb222433a 3 48426931 48426931 G A SNP PLXNB1 NM_002673.1 human genbank 54_36p -1 validated silent c.5457 p.D1819 0.995 superfamily_GTPase activation domain GAP,HMMPfam_Plexin_cytopl HMMPfam_Sema,HMMSmart_SM00630,superfamily_Sema domain,HMMPfam_PSI,PatternScan_LIPOCALIN,HMMPfam_TIG,HMMSmart_SM00429,PatternScan_IG_MHC,HMMSmart_SM00423,superfamily_GTPase activation domain GAP,HMMPfam_Plexin_cytopl,superfamily_E set domains,superfamily_Plexin repeat - no_errors 72 0 0.00 16 11 40.74 1 0 0.00 +FEZF2 0 genome.wustl.edu 37 3 62356948 62356948 + Missense_Mutation SNP T T A TCGA-AB-2838-03A-01W-0726-08 TCGA-AB-2838-11A-01W-0727-08 T T T A T T Verified Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq 1 dbGAP Illumina HiSeq 5d0e7904-586a-4207-96aa-97c8daf3dd61 a9294e38-8585-47e2-b596-da4bb222433a 3 62331988 62331988 T A SNP FEZF2 NM_018008.3 human genbank 54_36p -1 validated missense c.1064 p.H355L 1.000 HMMPfam_zf-C2H2,PatternScan_ZINC_FINGER_C2H2_1,HMMSmart_SM00355,superfamily_C2H2 and C2HC zinc fingers HMMPfam_zf-C2H2,PatternScan_ZINC_FINGER_C2H2_1,HMMSmart_SM00355,superfamily_C2H2 and C2HC zinc fingers - no_errors 98 0 0.00 52 33 38.82 NA NA NA +C6orf211 0 genome.wustl.edu 37 6 151775782 151775782 + Silent SNP C C T TCGA-AB-2838-03A-01W-0726-08 TCGA-AB-2838-11A-01W-0727-08 C C C T C C Verified Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq 1 dbGAP Illumina HiSeq 5d0e7904-586a-4207-96aa-97c8daf3dd61 a9294e38-8585-47e2-b596-da4bb222433a 6 151817475 151817475 C T SNP C6orf211 NM_024573.1 human genbank 54_36p +1 predicted silent c.141 p.H47 1.000 HMMPfam_DUF89,superfamily_DUF89 HMMPfam_DUF89,superfamily_DUF89 - no_errors 87 0 0.00 52 24 31.58 8 7 46.67 +CUL1 0 genome.wustl.edu 37 7 148454181 148454181 + Missense_Mutation SNP A A G TCGA-AB-2838-03A-01W-0726-08 TCGA-AB-2838-11A-01W-0727-08 A A A G A A Verified Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq 1 dbGAP Illumina HiSeq 5d0e7904-586a-4207-96aa-97c8daf3dd61 a9294e38-8585-47e2-b596-da4bb222433a 7 148085114 148085114 A G SNP CUL1 NM_003592.2 human genbank 54_36p +1 validated missense c.422 p.N141S 1.000 HMMPfam_Cullin,superfamily_Cullin repeat HMMPfam_Cullin,PatternScan_CULLIN_1,HMMSmart_SM00182,superfamily_Cullin homology domain,superfamily_Cullin repeat,HMMPfam_Cullin_Nedd8,superfamily_"Winged helix" DNA-binding domain - no_errors 73 0 0.00 17 43 71.67 10 47 82.46 +FAM83A 0 genome.wustl.edu 37 8 124221776 124221776 + 3'UTR SNP G G T TCGA-AB-2838-03A-01W-0726-08 TCGA-AB-2838-11A-01W-0727-08 G G G T G G Verified Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq 1 dbGAP Illumina HiSeq 5d0e7904-586a-4207-96aa-97c8daf3dd61 a9294e38-8585-47e2-b596-da4bb222433a 8 124290957 124290957 G T SNP FAM83A NM_207006.4 human genbank 54_36p +1 validated 3_prime_untranslated_region c.*40 NULL 0.000 - - - no_errors 141 0 0.00 413 49 10.61 9 0 0.00 +OGDHL 0 genome.wustl.edu 37 10 50966567 50966567 + Silent SNP G G A TCGA-AB-2838-03A-01W-0726-08 TCGA-AB-2838-11A-01W-0727-08 G G G A G G Verified Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq 1 dbGAP Illumina HiSeq 5d0e7904-586a-4207-96aa-97c8daf3dd61 a9294e38-8585-47e2-b596-da4bb222433a 10 50636573 50636573 G A SNP OGDHL NM_018245.1 human genbank 54_36p -1 validated silent c.72 p.V24 0.001 NULL HMMPfam_E1_dh,HMMPfam_Transket_pyr,superfamily_SSF52518 - no_errors 36 0 0.00 20 8 28.57 NA NA NA +PTPN5 0 genome.wustl.edu 37 11 18762271 18762271 + Missense_Mutation SNP T T C TCGA-AB-2838-03A-01W-0726-08 TCGA-AB-2838-11A-01W-0727-08 T T T C T T Verified Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq 1 dbGAP Illumina HiSeq 5d0e7904-586a-4207-96aa-97c8daf3dd61 a9294e38-8585-47e2-b596-da4bb222433a 11 18718847 18718847 T C SNP PTPN5 NM_006906.1 human genbank 54_36p -1 validated missense c.794 p.Y265C 0.865 NULL HMMPfam_Y_phosphatase,HMMSmart_SM00194,HMMSmart_SM00404,PatternScan_TYR_PHOSPHATASE_1,superfamily_(Phosphotyrosine protein) phosphatases II - no_errors 139 0 0.00 87 32 26.89 NA NA NA +ANO2 0 genome.wustl.edu 37 12 5672566 5672566 + Missense_Mutation SNP C C A TCGA-AB-2838-03A-01W-0726-08 TCGA-AB-2838-11A-01W-0727-08 C C C A C C Verified Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq 1 dbGAP Illumina HiSeq 5d0e7904-586a-4207-96aa-97c8daf3dd61 a9294e38-8585-47e2-b596-da4bb222433a 12 5542827 5542827 C A SNP ANO2 NM_020373.2 human genbank 54_36p -1 validated missense c.2899 p.G967C 0.000 NULL HMMPfam_DUF590 - no_errors 379 0 0.00 96 57 37.01 NA NA NA +GUCY2C 0 genome.wustl.edu 37 12 14798239 14798239 + Missense_Mutation SNP T T A TCGA-AB-2838-03A-01W-0726-08 TCGA-AB-2838-11A-01W-0727-08 T T T A T T Verified Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq 1 dbGAP Illumina HiSeq 5d0e7904-586a-4207-96aa-97c8daf3dd61 a9294e38-8585-47e2-b596-da4bb222433a 12 14689506 14689506 T A SNP GUCY2C NM_004963.3 human genbank 54_36p -1 validated missense c.1721 p.N574I 1.000 HMMSmart_SM00219,HMMSmart_SM00220,superfamily_Protein kinase-like (PK-like),HMMPfam_Pkinase HMMPfam_Guanylate_cyc,HMMSmart_SM00044,superfamily_Adenylyl and guanylyl cyclase catalytic domain,HMMSmart_SM00219,HMMPfam_ANF_receptor,HMMSmart_SM00220,superfamily_Protein kinase-like (PK-like),HMMPfam_Pkinase,PatternScan_GUANYLATE_CYCLASE_1,superfamily_Periplasmic binding protein-like I - no_errors 165 0 0.00 89 51 36.43 NA NA NA +RFC3 0 genome.wustl.edu 37 13 34409285 34409285 + Silent SNP G G A TCGA-AB-2838-03A-01W-0726-08 TCGA-AB-2838-11A-01W-0727-08 G G G A G G Verified Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq 1 dbGAP Illumina HiSeq 5d0e7904-586a-4207-96aa-97c8daf3dd61 a9294e38-8585-47e2-b596-da4bb222433a 13 33307285 33307285 G A SNP RFC3 NM_002915.3 human genbank 54_36p +1 reviewed silent c.810 p.R270 0.995 superfamily_DNA polymerase III clamp loader subunits C-terminal domain,HMMPfam_RFC-E_C HMMSmart_SM00382,superfamily_DNA polymerase III clamp loader subunits C-terminal domain,HMMPfam_RFC-E_C,superfamily_P-loop containing nucleoside triphosphate hydrolases - no_errors 35 0 0.00 33 21 38.89 14 11 44.00 +TBC1D21 0 genome.wustl.edu 37 15 74177406 74177406 + Missense_Mutation SNP G G C TCGA-AB-2838-03A-01W-0726-08 TCGA-AB-2838-11A-01W-0727-08 G G G C G G Verified Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq 1 dbGAP Illumina HiSeq 5d0e7904-586a-4207-96aa-97c8daf3dd61 a9294e38-8585-47e2-b596-da4bb222433a 15 71964459 71964459 G C SNP TBC1D21 NM_153356.1 human genbank 54_36p +1 provisional missense c.541 p.E181Q 1.000 HMMSmart_TBC,superfamily_RabGAP_TBC HMMSmart_TBC,superfamily_RabGAP_TBC - no_errors 164 3 1.78 75 44 36.97 NA NA NA +CLEC18B 0 genome.wustl.edu 37 16 74444758 74444758 + Missense_Mutation SNP T T C TCGA-AB-2838-03A-01W-0726-08 TCGA-AB-2838-11A-01W-0727-08 T T T C T T Verified Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq 1 dbGAP Illumina HiSeq 5d0e7904-586a-4207-96aa-97c8daf3dd61 a9294e38-8585-47e2-b596-da4bb222433a 16 73002259 73002259 T C SNP CLEC18B ENST00000268492 human ensembl 54_36p -1 known missense c.17 p.D6G 0.000 NULL HMMPfam_Lectin_C,superfamily_C-type lectin-like,PatternScan_C_TYPE_LECTIN_1 - no_start_codon 18 2 10.00 2 8 80.00 0 1 100.00 +TP53 0 genome.wustl.edu 37 17 7579312 7579312 + Silent SNP C C T rs55863639 TCGA-AB-2838-03A-01W-0726-08 TCGA-AB-2838-11A-01W-0727-08 C C C T C C Verified Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq 1 dbGAP Illumina HiSeq 5d0e7904-586a-4207-96aa-97c8daf3dd61 a9294e38-8585-47e2-b596-da4bb222433a 17 7520037 7520037 C T SNP TP53 NM_000546.4 human genbank 54_36p -1 reviewed silent c.375 p.T125 1.000 superfamily_p53-like transcription factors,HMMPfam_P53 PatternScan_P53,superfamily_p53-like transcription factors,HMMPfam_P53_tetramer,superfamily_p53 tetramerization domain,HMMPfam_P53,HMMPfam_P53_TAD - no_errors 283 0 0.00 42 63 60.00 4 42 91.30 +KIF2B 0 genome.wustl.edu 37 17 51900534 51900534 + Missense_Mutation SNP C C T TCGA-AB-2838-03A-01W-0726-08 TCGA-AB-2838-11A-01W-0727-08 C C C T C C Verified Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq 1 dbGAP Illumina HiSeq 5d0e7904-586a-4207-96aa-97c8daf3dd61 a9294e38-8585-47e2-b596-da4bb222433a 17 49255533 49255533 C T SNP KIF2B NM_032559.4 human genbank 54_36p +1 validated missense c.140 p.T47M 0.977 NULL HMMPfam_Kinesin,HMMSmart_SM00129,PatternScan_KINESIN_MOTOR_DOMAIN1,superfamily_P-loop containing nucleoside triphosphate hydrolases - no_errors 86 0 0.00 36 32 47.06 NA NA NA +PDE4A 0 genome.wustl.edu 37 19 10528494 10528494 + Silent SNP G G T TCGA-AB-2838-03A-01W-0726-08 TCGA-AB-2838-11A-01W-0727-08 G G G T G G Verified Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq 1 dbGAP Illumina HiSeq 5d0e7904-586a-4207-96aa-97c8daf3dd61 a9294e38-8585-47e2-b596-da4bb222433a 19 10389494 10389494 G T SNP PDE4A ENST00000380702 human ensembl 54_36p +1 known silent c.207 p.P69 0.941 NULL HMMPfam_PDEase_I,PatternScan_PDEASE_I,HMMSmart_HDc,superfamily_SSF109604 - no_errors 76 0 0.00 32 16 33.33 NA NA NA +NRAS 0 genome.wustl.edu 37 1 115258744 115258744 + Missense_Mutation SNP C C T rs121434596 TCGA-AB-2839-03B-01W-0728-08 TCGA-AB-2839-11B-01W-0729-08 C C C T C C Verified Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq 1 dbGAP Illumina HiSeq e46ca5db-40a6-4119-8f57-d5739cce62fe 2702acd2-a374-44e7-b9d5-c5caecdcbea0 1 115060267 115060267 C T SNP NRAS NM_002524.3 human genbank 54_36p -1 reviewed missense c.38 p.G13D 1.000 HMMSmart_SM00173,HMMSmart_SM00174,HMMSmart_SM00175,HMMPfam_Ras,superfamily_P-loop containing nucleoside triphosphate hydrolases HMMSmart_SM00173,HMMSmart_SM00174,HMMSmart_SM00175,HMMPfam_Ras,superfamily_P-loop containing nucleoside triphosphate hydrolases - no_errors 92 2 2.13 58 35 37.63 37 13 26.00 +DNMT3A 0 genome.wustl.edu 37 2 25468133 25468133 + Nonsense_Mutation SNP G G A TCGA-AB-2839-03B-01W-0728-08 TCGA-AB-2839-11B-01W-0729-08 G G G A G G Verified Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq 1 dbGAP Illumina HiSeq e46ca5db-40a6-4119-8f57-d5739cce62fe 2702acd2-a374-44e7-b9d5-c5caecdcbea0 2 25321637 25321637 G A SNP DNMT3A NM_022552.3 human genbank 54_36p -1 reviewed nonsense c.1543 p.Q515* 1.000 NULL HMMPfam_PWWP,HMMSmart_SM00293,HMMPfam_DNA_methylase,superfamily_FYVE/PHD zinc finger,PatternScan_C5_MTASE_1,superfamily_S-adenosyl-L-methionine-dependent methyltransferases,superfamily_Tudor/PWWP/MBT - no_errors 18 0 0.00 12 15 55.56 27 16 37.21 +CNTN6 0 genome.wustl.edu 37 3 1415299 1415299 + Missense_Mutation SNP C C A TCGA-AB-2839-03B-01W-0728-08 TCGA-AB-2839-11B-01W-0729-08 C C C A C C Verified Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq 1 dbGAP Illumina HiSeq e46ca5db-40a6-4119-8f57-d5739cce62fe 2702acd2-a374-44e7-b9d5-c5caecdcbea0 3 1390299 1390299 C A SNP CNTN6 NM_014461.2 human genbank 54_36p +1 reviewed missense c.1798 p.P600T 1.000 HMMPfam_fn3,HMMSmart_FN3,superfamily_FN_III-like HMMSmart_IGc2,HMMSmart_IG,HMMPfam_fn3,HMMSmart_FN3,superfamily_FN_III-like,HMMPfam_I-set,superfamily_SSF48726 - no_errors 81 0 0.00 60 30 33.33 NA NA NA +VPRBP 0 genome.wustl.edu 37 3 51466813 51466813 + Missense_Mutation SNP T T C TCGA-AB-2839-03B-01W-0728-08 TCGA-AB-2839-11B-01W-0729-08 T T T C T T Verified Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq 1 dbGAP Illumina HiSeq e46ca5db-40a6-4119-8f57-d5739cce62fe 2702acd2-a374-44e7-b9d5-c5caecdcbea0 3 51441853 51441853 T C SNP VPRBP ENST00000273612 human ensembl 54_36p -1 known missense c.1589 p.K530R 1.000 superfamily_ARM repeat HMMSmart_SM00667,superfamily_WD40 repeat-like,HMMPfam_LisH,superfamily_ARM repeat - no_errors 67 6 8.22 55 43 43.88 16 7 30.43 +KDR 0 genome.wustl.edu 37 4 55980300 55980300 + Missense_Mutation SNP G G A TCGA-AB-2839-03B-01W-0728-08 TCGA-AB-2839-11B-01W-0729-08 G G G A G G Verified Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq 1 dbGAP Illumina HiSeq e46ca5db-40a6-4119-8f57-d5739cce62fe 2702acd2-a374-44e7-b9d5-c5caecdcbea0 4 55675057 55675057 G A SNP KDR NM_002253.2 human genbank 54_36p -1 validated missense c.791 p.S264F 0.630 HMMSmart_IG,HMMPfam_V-set,superfamily_SSF48726 HMMPfam_Pkinase_Tyr,HMMSmart_TyrKc,PatternScan_RECEPTOR_TYR_KIN_III,HMMSmart_IGc2,HMMSmart_IG,PatternScan_PROTEIN_KINASE_TYR,superfamily_Kinase_like,HMMPfam_I-set,HMMPfam_V-set,HMMPfam_ig,PatternScan_PROTEIN_KINASE_ATP,superfamily_SSF48726 - no_errors 108 7 6.09 55 65 53.72 NA NA NA +TGFBI 0 genome.wustl.edu 37 5 135396553 135396553 + Missense_Mutation SNP C C T TCGA-AB-2839-03B-01W-0728-08 TCGA-AB-2839-11B-01W-0729-08 C C C T C C Verified Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq 1 dbGAP Illumina HiSeq e46ca5db-40a6-4119-8f57-d5739cce62fe 2702acd2-a374-44e7-b9d5-c5caecdcbea0 5 135424452 135424452 C T SNP TGFBI NM_000358.2 human genbank 54_36p +1 reviewed missense c.1834 p.P612S 0.998 HMMPfam_Fasciclin,HMMSmart_SM00554,superfamily_FAS1 domain HMMPfam_Fasciclin,HMMSmart_SM00554,superfamily_FAS1 domain,HMMPfam_EMI - no_errors 213 3 1.39 49 27 35.53 0 1 100.00 +SLC1A1 0 genome.wustl.edu 37 9 4576050 4576050 + Missense_Mutation SNP G G A TCGA-AB-2839-03B-01W-0728-08 TCGA-AB-2839-11B-01W-0729-08 G G G A G G Verified Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq 1 dbGAP Illumina HiSeq e46ca5db-40a6-4119-8f57-d5739cce62fe 2702acd2-a374-44e7-b9d5-c5caecdcbea0 9 4566050 4566050 G A SNP SLC1A1 NM_004170.4 human genbank 54_36p +1 validated missense c.925 p.V309I 0.986 HMMPfam_SDF HMMPfam_SDF,PatternScan_NA_DICARBOXYL_SYMP_1,PatternScan_NA_DICARBOXYL_SYMP_2 - no_errors 141 8 5.37 71 75 51.37 NA NA NA +PRSS3 0 genome.wustl.edu 37 9 33795590 33795590 + Missense_Mutation SNP C C T TCGA-AB-2839-03B-01W-0728-08 TCGA-AB-2839-11B-01W-0729-08 C C C T C C Verified Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq 1 dbGAP Illumina HiSeq e46ca5db-40a6-4119-8f57-d5739cce62fe 2702acd2-a374-44e7-b9d5-c5caecdcbea0 9 33785590 33785590 C T SNP PRSS3 NM_002771.3 human genbank 54_36p +1 reviewed missense c.19 p.L7F 0.941 NULL HMMPfam_Trypsin,HMMSmart_SM00020,superfamily_Trypsin-like serine proteases,PatternScan_TRYPSIN_HIS - no_errors 105 8 7.08 48 37 43.53 NA NA NA +SMC3 0 genome.wustl.edu 37 10 112362987 112362987 + Missense_Mutation SNP C C T TCGA-AB-2839-03B-01W-0728-08 TCGA-AB-2839-11B-01W-0729-08 C C C T C C Verified Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq 1 dbGAP Illumina HiSeq e46ca5db-40a6-4119-8f57-d5739cce62fe 2702acd2-a374-44e7-b9d5-c5caecdcbea0 10 112352977 112352977 C T SNP SMC3 NM_005445.3 human genbank 54_36p +1 reviewed missense c.3521 p.T1174I 1.000 HMMPfam_SMC_N,superfamily_P-loop containing nucleoside triphosphate hydrolases HMMPfam_SMC_N,HMMPfam_SMC_hinge,superfamily_Smc hinge domain,PatternScan_ABC_TRANSPORTER_1,superfamily_P-loop containing nucleoside triphosphate hydrolases,superfamily_BAG domain - no_errors 23 4 14.81 50 41 44.57 25 18 41.86 +OR5AS1 0 genome.wustl.edu 37 11 55798094 55798094 + Missense_Mutation SNP C C A TCGA-AB-2839-03B-01W-0728-08 TCGA-AB-2839-11B-01W-0729-08 C C C A C C Verified Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq 1 dbGAP Illumina HiSeq e46ca5db-40a6-4119-8f57-d5739cce62fe 2702acd2-a374-44e7-b9d5-c5caecdcbea0 11 55554670 55554670 C A SNP OR5AS1 NM_001001921.1 human genbank 54_36p +1 provisional missense c.200 p.S67Y 0.965 HMMPfam_7tm_1,superfamily_SSF81321 HMMPfam_7tm_1,PatternScan_G_PROTEIN_RECEP_F1_1,superfamily_SSF81321 - no_errors 67 7 9.46 83 56 40.29 NA NA NA +CACNA2D4 0 genome.wustl.edu 37 12 1963133 1963133 + Missense_Mutation SNP C C A TCGA-AB-2839-03B-01W-0728-08 TCGA-AB-2839-11B-01W-0729-08 C C C A C C Verified Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq 1 dbGAP Illumina HiSeq e46ca5db-40a6-4119-8f57-d5739cce62fe 2702acd2-a374-44e7-b9d5-c5caecdcbea0 12 1833394 1833394 C A SNP CACNA2D4 NM_172364.4 human genbank 54_36p -1 reviewed missense c.2230 p.A744S 0.824 NULL HMMPfam_VWA,HMMSmart_SM00327,HMMPfam_Cache_1,HMMPfam_VWA_N,superfamily_vWA-like - no_errors 89 6 6.32 25 35 58.33 6 11 64.71 +SLC39A5 0 genome.wustl.edu 37 12 56631037 56631037 + Silent SNP G G T TCGA-AB-2839-03B-01W-0728-08 TCGA-AB-2839-11B-01W-0729-08 G G G T G G Verified Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq 1 dbGAP Illumina HiSeq e46ca5db-40a6-4119-8f57-d5739cce62fe 2702acd2-a374-44e7-b9d5-c5caecdcbea0 12 54917304 54917304 G T SNP SLC39A5 NM_173596.1 human genbank 54_36p +1 validated silent c.1389 p.V463 0.997 HMMPfam_Zip HMMPfam_Zip - no_errors 37 1 2.63 14 12 46.15 2 0 0.00 +PTPN11 0 genome.wustl.edu 37 12 112939981 112939981 + Missense_Mutation SNP A A C TCGA-AB-2839-03B-01W-0728-08 TCGA-AB-2839-11B-01W-0729-08 A A A C A A Verified Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq 1 dbGAP Illumina HiSeq e46ca5db-40a6-4119-8f57-d5739cce62fe 2702acd2-a374-44e7-b9d5-c5caecdcbea0 12 111424364 111424364 A C SNP PTPN11 NM_002834.3 human genbank 54_36p +1 reviewed missense c.1633 p.I545L 1.000 NULL HMMPfam_Y_phosphatase,HMMSmart_SM00194,HMMPfam_SH2,HMMSmart_SM00252,HMMSmart_SM00404,PatternScan_TYR_PHOSPHATASE_1,superfamily_(Phosphotyrosine protein) phosphatases II,superfamily_SH2 domain - no_errors 65 3 4.41 35 36 50.70 23 22 48.89 +C15orf57 0 genome.wustl.edu 37 15 40855085 40855085 + Missense_Mutation SNP C C T TCGA-AB-2839-03B-01W-0728-08 TCGA-AB-2839-11B-01W-0729-08 C C C T C C Verified Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq 1 dbGAP Illumina HiSeq e46ca5db-40a6-4119-8f57-d5739cce62fe 2702acd2-a374-44e7-b9d5-c5caecdcbea0 15 38642377 38642377 C T SNP C15orf57 NM_001080791.1 human genbank 54_36p -1 validated missense c.157 p.V53M 0.251 NULL NULL - no_errors 119 3 2.46 33 27 45.00 26 20 43.48 +DUOXA2 0 genome.wustl.edu 37 15 45408364 45408364 + Missense_Mutation SNP C C A TCGA-AB-2839-03B-01W-0728-08 TCGA-AB-2839-11B-01W-0729-08 C C C A C C Verified Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq 1 dbGAP Illumina HiSeq e46ca5db-40a6-4119-8f57-d5739cce62fe 2702acd2-a374-44e7-b9d5-c5caecdcbea0 15 43195656 43195656 C A SNP DUOXA2 NM_207581.2 human genbank 54_36p +1 validated missense c.248 p.T83N 0.999 HMMPfam_DuoxA HMMPfam_DuoxA - no_errors 29 1 3.33 15 12 44.44 NA NA NA +TM6SF1 0 genome.wustl.edu 37 15 83784622 83784622 + Silent SNP C C T TCGA-AB-2839-03B-01W-0728-08 TCGA-AB-2839-11B-01W-0729-08 C C C T C C Verified Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq 1 dbGAP Illumina HiSeq e46ca5db-40a6-4119-8f57-d5739cce62fe 2702acd2-a374-44e7-b9d5-c5caecdcbea0 15 81575626 81575626 C T SNP TM6SF1 NM_023003.1 human genbank 54_36p +1 validated silent c.222 p.S74 0.954 NULL NULL - no_errors 222 11 4.72 56 37 39.78 NA NA NA +RALGAPA2 0 genome.wustl.edu 37 20 20610211 20610211 + Missense_Mutation SNP C C A TCGA-AB-2839-03B-01W-0728-08 TCGA-AB-2839-11B-01W-0729-08 C C C A C C Verified Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq 1 dbGAP Illumina HiSeq e46ca5db-40a6-4119-8f57-d5739cce62fe 2702acd2-a374-44e7-b9d5-c5caecdcbea0 20 20558211 20558211 C A SNP C20orf74 NM_020343.2 human genbank 54_36p -1 validated missense c.1029 p.Q343H 0.972 NULL HMMPfam_Rap_GAP,superfamily_Rap/Ran-GAP (Pfam 02145) - no_errors 78 5 6.02 74 56 43.08 9 14 60.87 +IGSF5 0 genome.wustl.edu 37 21 41143070 41143070 + Missense_Mutation SNP G G A TCGA-AB-2839-03B-01W-0728-08 TCGA-AB-2839-11B-01W-0729-08 G G G A G G Verified Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq 1 dbGAP Illumina HiSeq e46ca5db-40a6-4119-8f57-d5739cce62fe 2702acd2-a374-44e7-b9d5-c5caecdcbea0 21 40064940 40064940 G A SNP IGSF5 NM_001080444.1 human genbank 54_36p +1 provisional missense c.646 p.V216M 0.992 HMMSmart_IG,superfamily_SSF48726 HMMSmart_IG,HMMPfam_I-set,superfamily_SSF48726 - no_errors 36 2 5.26 42 33 44.00 NA NA NA +NPM1 0 genome.wustl.edu 37 5 170837543 170837544 + Frame_Shift_Ins INS - - TATG TCGA-AB-2839-03B-01W-0728-08 TCGA-AB-2839-11B-01W-0729-08 - - - TATG - - Verified Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq 1 dbGAP Illumina HiSeq e46ca5db-40a6-4119-8f57-d5739cce62fe 2702acd2-a374-44e7-b9d5-c5caecdcbea0 5 170770148 170770149 - TATG INS NPM1 NM_002520.1 human genbank 54_36p +1 validated frame_shift_ins c.859_860 p.W288fs 1.000:1.000 NULL HMMPfam_Nucleoplasmin,superfamily_Nucleoplasmin-like core domain - no_errors NA NA NA NA NA NA NA NA NA +WT1 0 genome.wustl.edu 37 11 32417908 32417909 + Frame_Shift_Ins INS - - CCGA TCGA-AB-2839-03B-01W-0728-08 TCGA-AB-2839-11B-01W-0729-08 - - - CCGA - - Verified Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq 1 dbGAP Illumina HiSeq e46ca5db-40a6-4119-8f57-d5739cce62fe 2702acd2-a374-44e7-b9d5-c5caecdcbea0 11 32374484 32374485 - CCGA INS WT1 NM_024426.3 human genbank 54_36p -1 reviewed frame_shift_ins c.1144_1143 p.A381fs 0.833:0.771 HMMPfam_WT1 HMMPfam_WT1,HMMPfam_zf-C2H2,PatternScan_ZINC_FINGER_C2H2_1,HMMSmart_SM00355,superfamily_C2H2 and C2HC zinc fingers - no_errors NA NA NA NA NA NA NA NA NA +CEBPA 0 genome.wustl.edu 37 19 33792294 33792294 + Frame_Shift_Del DEL G G - TCGA-AB-2839-03B-01W-0728-08 TCGA-AB-2839-11B-01W-0729-08 G G G - G G Verified Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq 1 dbGAP Illumina HiSeq e46ca5db-40a6-4119-8f57-d5739cce62fe 2702acd2-a374-44e7-b9d5-c5caecdcbea0 19 38484134 38484134 G - DEL CEBPA NM_004364.3 human genbank 54_36p -1 reviewed frame_shift_del c.1027 p.R343fs 1.000 HMMSmart_BRLZ HMMSmart_BRLZ,PatternScan_BZIP_BASIC,HMMPfam_bZIP_2 - no_errors 1 0 0.00 9 4 30.77 66 47 41.59 +FLT3 0 genome.wustl.edu 37 13 28608248 28608249 + In_Frame_Ins INS - - ATTTGAGATCATATTCAT TCGA-AB-2840-03D-01W-0755-09 TCGA-AB-2840-11D-01W-0755-09 - - - ATTTGAGATCATATTCAT - - Verified Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq 1 dbGAP Illumina HiSeq cb122429-5b01-4fad-b498-b0342230b567 208175bb-18db-45f6-a725-84c2ae98d45f 13 27506248 27506249 - ATTTGAGATCATATTCAT INS FLT3 NM_004119.2 human genbank 54_36p -1 reviewed in_frame_ins c.1808_1807 p.603in_frame_insYEYDLK 1.000:1.000 superfamily_Kinase_like HMMPfam_Pkinase_Tyr,HMMSmart_TyrKc,PatternScan_RECEPTOR_TYR_KIN_III,PatternScan_PROTEIN_KINASE_TYR,superfamily_Kinase_like,HMMPfam_ig,PatternScan_PROTEIN_KINASE_ATP,superfamily_SSF48726 - no_errors NA NA NA NA NA NA NA NA NA +DAG1 0 genome.wustl.edu 37 3 49568345 49568345 + Missense_Mutation SNP G G A TCGA-AB-2841-03B-01W-0728-08 TCGA-AB-2841-11B-01W-0729-08 G G G A G G Verified Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq 1 dbGAP Illumina HiSeq a101f87f-d1fb-492c-88bb-715de3a865ad 404c79b4-f058-43dd-b1ff-581907da8da9 3 49543349 49543349 G A SNP DAG1 NM_004393.2 human genbank 54_36p +1 reviewed missense c.401 p.S134N 0.264 HMMSmart_CADG,HMMPfam_DAG1,superfamily_Cadherin HMMSmart_CADG,HMMPfam_DAG1,superfamily_Cadherin,superfamily_SSF111006 - no_errors 82 1 1.19 99 72 41.86 6 8 57.14 +C3orf56 0 genome.wustl.edu 37 3 126915795 126915795 + Missense_Mutation SNP G G A TCGA-AB-2841-03B-01W-0728-08 TCGA-AB-2841-11B-01W-0729-08 G G G A G G Verified Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq 1 dbGAP Illumina HiSeq a101f87f-d1fb-492c-88bb-715de3a865ad 404c79b4-f058-43dd-b1ff-581907da8da9 3 128398485 128398485 G A SNP C3orf56 ENST00000398112 human ensembl 54_36p +1 known missense c.267 p.M89I 0.000 NULL NULL - no_errors 33 0 0.00 77 53 39.85 NA NA NA +TBC1D2 0 genome.wustl.edu 37 9 100971322 100971322 + Missense_Mutation SNP A A C TCGA-AB-2841-03B-01W-0728-08 TCGA-AB-2841-11B-01W-0729-08 A A A C A A Verified Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq 1 dbGAP Illumina HiSeq a101f87f-d1fb-492c-88bb-715de3a865ad 404c79b4-f058-43dd-b1ff-581907da8da9 9 100011143 100011143 A C SNP TBC1D2 NM_018421.3 human genbank 54_36p -1 validated missense c.1778 p.L593R 1.000 NULL HMMPfam_TBC,HMMSmart_TBC,superfamily_RabGAP_TBC,HMMPfam_PH,HMMSmart_PH,superfamily_SSF50729 - no_errors 49 0 0.00 65 55 45.83 6 23 76.67 +SYT15 0 genome.wustl.edu 37 10 46968665 46968665 + Silent SNP G G A TCGA-AB-2841-03B-01W-0728-08 TCGA-AB-2841-11B-01W-0729-08 G G G A G G Verified Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq 1 dbGAP Illumina HiSeq a101f87f-d1fb-492c-88bb-715de3a865ad 404c79b4-f058-43dd-b1ff-581907da8da9 10 46388671 46388671 G A SNP SYT15 NM_031912.3 human genbank 54_36p -1 reviewed silent c.271 p.L91 0.005 NULL HMMPfam_C2,HMMSmart_SM00239,superfamily_C2 domain (Calcium/lipid-binding domain CaLB),PatternScan_CNMP_BINDING_1 - no_errors 209 10 4.55 130 42 24.00 0 0 0.00 +KRT79 0 genome.wustl.edu 37 12 53217985 53217985 + Silent SNP G G A TCGA-AB-2841-03B-01W-0728-08 TCGA-AB-2841-11B-01W-0729-08 G G G A G G Verified Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq 1 dbGAP Illumina HiSeq a101f87f-d1fb-492c-88bb-715de3a865ad 404c79b4-f058-43dd-b1ff-581907da8da9 12 51504252 51504252 G A SNP KRT79 NM_175834.2 human genbank 54_36p -1 validated silent c.1017 p.T339 0.988 superfamily_Prefoldin,HMMPfam_Filament superfamily_Prefoldin,HMMPfam_Filament,PatternScan_IF - no_errors 88 0 0.00 72 66 47.83 NA NA NA +BAGE4 0 genome.wustl.edu 37 21 11098733 11098733 + Missense_Mutation SNP G G A TCGA-AB-2841-03B-01W-0728-08 TCGA-AB-2841-11B-01W-0729-08 G G G A G G Verified Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq 1 dbGAP Illumina HiSeq a101f87f-d1fb-492c-88bb-715de3a865ad 404c79b4-f058-43dd-b1ff-581907da8da9 21 10120604 10120604 G A SNP BAGE4 NM_181704.1 human genbank 54_36p -1 provisional missense c.5 p.A2V 0.000 HMMPfam_BAGE HMMPfam_BAGE - no_errors 76 0 0.00 56 14 19.44 NA NA NA +KRT8P15 0 genome.wustl.edu 37 2 203705825 203705827 + RNA DEL GCT GCT - TCGA-AB-2841-03B-01W-0728-08 TCGA-AB-2841-11B-01W-0729-08 GCT GCT GCT - GCT GCT Verified Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq 1 dbGAP Illumina HiSeq a101f87f-d1fb-492c-88bb-715de3a865ad 404c79b4-f058-43dd-b1ff-581907da8da9 2 203414070 203414072 GCT - DEL KRT8P15 XR_016994.2 human genbank 54_36p -1 model rna NULL NULL 1.000:0.999:0.999 - - - pseudogene 0 0 0.00 0 62 34.07 0 0 0.00 +KDM1A 0 genome.wustl.edu 37 1 23405610 23405610 + Silent SNP A A G TCGA-AB-2842-03A-01W-0726-08 TCGA-AB-2842-11A-01W-0727-08 A A A G A A Verified Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq 1 dbGAP Illumina HiSeq c24211c8-c6c4-4955-9604-9192648877be 7a7b4a31-d23e-42a7-bfdc-87816eae594d 1 23278197 23278197 A G SNP AOF2 NM_015013.2 human genbank 54_36p +1 reviewed silent c.1923 p.P641 0.359 HMMPfam_Amino_oxidase,superfamily_FAD/NAD(P)-binding domain HMMPfam_Amino_oxidase,HMMPfam_SWIRM,superfamily_FAD/NAD(P)-binding domain,superfamily_FAD-linked reductases C-terminal domain - no_errors 84 8 8.70 41 38 48.10 40 29 42.03 +SMARCA2 0 genome.wustl.edu 37 9 2081904 2081904 + Missense_Mutation SNP C C T TCGA-AB-2842-03A-01W-0726-08 TCGA-AB-2842-11A-01W-0727-08 C C C T C C Verified Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq 1 dbGAP Illumina HiSeq c24211c8-c6c4-4955-9604-9192648877be 7a7b4a31-d23e-42a7-bfdc-87816eae594d 9 2071904 2071904 C T SNP SMARCA2 NM_003070.3 human genbank 54_36p +1 reviewed missense c.2257 p.L753F 1.000 HMMPfam_SNF2_N,HMMSmart_SM00487,superfamily_P-loop containing nucleoside triphosphate hydrolases HMMPfam_SNF2_N,HMMPfam_Bromodomain,HMMSmart_SM00297,superfamily_Bromodomain,HMMPfam_Helicase_C,HMMSmart_SM00490,HMMPfam_HSA,HMMPfam_BRK,HMMSmart_SM00592,HMMSmart_SM00573,HMMSmart_SM00487,HMMPfam_QLQ,PatternScan_BROMODOMAIN_1,superfamily_P-loop containing nucleoside triphosphate hydrolases - no_errors 207 22 9.57 63 19 23.17 119 61 33.89 +MYCL1 0 genome.wustl.edu 37 1 40363614 40363614 + Silent SNP T T A TCGA-AB-2843-03B-01W-0728-08 TCGA-AB-2843-11B-01W-0729-08 T T T A T T Verified Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq 1 dbGAP Illumina HiSeq c6bf38cf-18b1-46e2-99b5-e0b6a0fc7592 47f0907e-96b3-46c2-9acb-198105f451e7 1 40136201 40136201 T A SNP MYCL1 NM_001033081.1 human genbank 54_36p -1 validated silent c.525 p.V175 1.000 HMMPfam_Myc_N HMMPfam_HLH,HMMSmart_SM00353,superfamily_HLH helix-loop-helix DNA-binding domain,HMMPfam_Myc_N - no_errors 195 2 1.01 57 34 37.36 2 3 60.00 +CNGA3 0 genome.wustl.edu 37 2 99012373 99012373 + Missense_Mutation SNP C C T TCGA-AB-2843-03B-01W-0728-08 TCGA-AB-2843-11B-01W-0729-08 C C C T C C Verified Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq 1 dbGAP Illumina HiSeq c6bf38cf-18b1-46e2-99b5-e0b6a0fc7592 47f0907e-96b3-46c2-9acb-198105f451e7 2 98378805 98378805 C T SNP CNGA3 NM_001298.1 human genbank 54_36p +1 reviewed missense c.740 p.T247M 0.001 HMMPfam_Ion_trans,superfamily_SSF81324 HMMPfam_cNMP_binding,HMMSmart_cNMP,HMMPfam_Ion_trans,PatternScan_CNMP_BINDING_1,PatternScan_CNMP_BINDING_2,superfamily_cNMP_binding,superfamily_SSF81324 - no_errors 268 2 0.74 53 42 44.21 NA NA NA +KIT 0 genome.wustl.edu 37 4 55564702 55564702 + Missense_Mutation SNP C C T TCGA-AB-2843-03B-01W-0728-08 TCGA-AB-2843-11B-01W-0729-08 C C C T C C Verified Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq 1 dbGAP Illumina HiSeq c6bf38cf-18b1-46e2-99b5-e0b6a0fc7592 47f0907e-96b3-46c2-9acb-198105f451e7 4 55259459 55259459 C T SNP KIT NM_000222.2 human genbank 54_36p +1 reviewed missense c.590 p.S197L 0.086 NULL HMMPfam_Pkinase_Tyr,HMMSmart_TyrKc,PatternScan_RECEPTOR_TYR_KIN_III,HMMSmart_IGc2,HMMSmart_IG,PatternScan_PROTEIN_KINASE_TYR,superfamily_Kinase_like,HMMPfam_ig,PatternScan_PROTEIN_KINASE_ATP,superfamily_SSF48726 - no_errors 44 0 0.00 32 19 37.25 15 20 57.14 +KIT 0 genome.wustl.edu 37 4 55599321 55599321 + Missense_Mutation SNP A A T rs121913507 TCGA-AB-2843-03B-01W-0728-08 TCGA-AB-2843-11B-01W-0729-08 A A A T A A Verified Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq 1 dbGAP Illumina HiSeq c6bf38cf-18b1-46e2-99b5-e0b6a0fc7592 47f0907e-96b3-46c2-9acb-198105f451e7 4 55294078 55294078 A T SNP KIT NM_000222.2 human genbank 54_36p +1 reviewed missense c.2447 p.D816V 1.000 HMMPfam_Pkinase_Tyr,HMMSmart_TyrKc,superfamily_Kinase_like HMMPfam_Pkinase_Tyr,HMMSmart_TyrKc,PatternScan_RECEPTOR_TYR_KIN_III,HMMSmart_IGc2,HMMSmart_IG,PatternScan_PROTEIN_KINASE_TYR,superfamily_Kinase_like,HMMPfam_ig,PatternScan_PROTEIN_KINASE_ATP,superfamily_SSF48726 - no_errors 59 4 6.35 24 25 51.02 35 43 55.13 +LRRTM2 0 genome.wustl.edu 37 5 138209820 138209820 + Missense_Mutation SNP G G C TCGA-AB-2843-03B-01W-0728-08 TCGA-AB-2843-11B-01W-0729-08 G G G C G G Verified Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq 1 dbGAP Illumina HiSeq c6bf38cf-18b1-46e2-99b5-e0b6a0fc7592 47f0907e-96b3-46c2-9acb-198105f451e7 5 138237719 138237719 G C SNP LRRTM2 NM_015564.2 human genbank 54_36p -1 validated missense c.430 p.Q144E 1.000 HMMPfam_LRR_1,HMMSmart_SM00369,superfamily_L domain-like HMMPfam_LRR_1,HMMSmart_SM00369,superfamily_L domain-like - no_errors 203 0 0.00 98 42 30.00 0 0 0.00 +CD74 0 genome.wustl.edu 37 5 149792285 149792285 + Missense_Mutation SNP G G A TCGA-AB-2843-03B-01W-0728-08 TCGA-AB-2843-11B-01W-0729-08 G G G A G G Verified Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq 1 dbGAP Illumina HiSeq c6bf38cf-18b1-46e2-99b5-e0b6a0fc7592 47f0907e-96b3-46c2-9acb-198105f451e7 5 149772478 149772478 G A SNP CD74 NM_001025159.1 human genbank 54_36p -1 validated missense c.28 p.R10W 0.002 NULL HMMPfam_Thyroglobulin_1,HMMSmart_SM00211,PatternScan_THYROGLOBULIN_1_1,superfamily_Thyroglobulin type-1 domain,HMMPfam_MHCassoc_trimer,superfamily_Class II MHC-associated invariant chain ectoplasmic trimerization domain,HMMPfam_MHC2-interact - no_errors 266 1 0.37 51 36 41.38 4335 3678 45.83 +SPAM1 0 genome.wustl.edu 37 7 123599598 123599598 + Missense_Mutation SNP G G A TCGA-AB-2843-03B-01W-0728-08 TCGA-AB-2843-11B-01W-0729-08 G G G A G G Verified Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq 1 dbGAP Illumina HiSeq c6bf38cf-18b1-46e2-99b5-e0b6a0fc7592 47f0907e-96b3-46c2-9acb-198105f451e7 7 123386834 123386834 G A SNP SPAM1 NM_003117.3 human genbank 54_36p +1 reviewed missense c.1105 p.V369I 1.000 HMMPfam_Glyco_hydro_56 HMMPfam_Glyco_hydro_56,superfamily_Glyco_hydro_cat - no_errors 228 2 0.87 67 41 37.96 NA NA NA +PLCE1 0 genome.wustl.edu 37 10 95931194 95931194 + Missense_Mutation SNP C C A TCGA-AB-2843-03B-01W-0728-08 TCGA-AB-2843-11B-01W-0729-08 C C C A C C Verified Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq 1 dbGAP Illumina HiSeq c6bf38cf-18b1-46e2-99b5-e0b6a0fc7592 47f0907e-96b3-46c2-9acb-198105f451e7 10 95921184 95921184 C A SNP PLCE1 NM_016341.3 human genbank 54_36p +1 validated missense c.1750 p.L584I 0.239 HMMPfam_RasGEF,HMMSmart_SM00147,superfamily_Ras GEF HMMPfam_C2,HMMSmart_SM00239,HMMPfam_RA,HMMSmart_SM00314,HMMPfam_PI-PLC-X,HMMSmart_SM00148,HMMPfam_PI-PLC-Y,HMMSmart_SM00149,HMMPfam_RasGEF,HMMSmart_SM00147,superfamily_Ras GEF,superfamily_C2 domain (Calcium/lipid-binding domain CaLB),HMMPfam_efhand_like,superfamily_PLC-like phosphodiesterases,superfamily_EF-hand - no_errors 470 0 0.00 206 50 19.46 NA NA NA +SYT1 0 genome.wustl.edu 37 12 79611354 79611354 + Missense_Mutation SNP G G A TCGA-AB-2843-03B-01W-0728-08 TCGA-AB-2843-11B-01W-0729-08 G G G A G G Verified Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq 1 dbGAP Illumina HiSeq c6bf38cf-18b1-46e2-99b5-e0b6a0fc7592 47f0907e-96b3-46c2-9acb-198105f451e7 12 78135485 78135485 G A SNP SYT1 NM_005639.1 human genbank 54_36p +1 validated missense c.55 p.A19T 0.964 NULL HMMPfam_C2,HMMSmart_SM00239,superfamily_C2 domain (Calcium/lipid-binding domain CaLB) - no_errors 71 0 0.00 54 32 37.21 NA NA NA +U2AF1 0 genome.wustl.edu 37 21 44524456 44524456 + Missense_Mutation SNP G G A TCGA-AB-2843-03B-01W-0728-08 TCGA-AB-2843-11B-01W-0729-08 G G G A G G Verified Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq 1 dbGAP Illumina HiSeq c6bf38cf-18b1-46e2-99b5-e0b6a0fc7592 47f0907e-96b3-46c2-9acb-198105f451e7 21 43397525 43397525 G A SNP U2AF1 NM_001025203.1 human genbank 54_36p -1 reviewed missense c.101 p.S34F 1.000 HMMPfam_zf-CCCH,HMMSmart_ZnF_C3H1 HMMPfam_RRM_1,HMMSmart_RRM,HMMPfam_zf-CCCH,HMMSmart_ZnF_C3H1,superfamily_SSF54928 - no_errors 69 0 0.00 12 13 52.00 48 61 55.96 +POLDIP3 0 genome.wustl.edu 37 22 42998992 42998992 + Silent SNP A A G TCGA-AB-2843-03B-01W-0728-08 TCGA-AB-2843-11B-01W-0729-08 A A A G A A Verified Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq 1 dbGAP Illumina HiSeq c6bf38cf-18b1-46e2-99b5-e0b6a0fc7592 47f0907e-96b3-46c2-9acb-198105f451e7 22 41328936 41328936 A G SNP POLDIP3 NM_032311.3 human genbank 54_36p -1 reviewed silent c.234 p.L78 1.000 NULL HMMPfam_RRM_1,HMMSmart_SM00360,superfamily_RNA-binding domain RBD - no_errors 269 6 2.18 32 45 58.44 35 26 42.62 +TLR4 0 genome.wustl.edu 37 9 120475317 120475320 + Frame_Shift_Del DEL TTAA TTAA - TCGA-AB-2843-03B-01W-0728-08 TCGA-AB-2843-11B-01W-0729-08 TTAA TTAA TTAA - TTAA TTAA Verified Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq 1 dbGAP Illumina HiSeq c6bf38cf-18b1-46e2-99b5-e0b6a0fc7592 47f0907e-96b3-46c2-9acb-198105f451e7 9 119515138 119515141 TTAA - DEL TLR4 NM_138554.3 human genbank 54_36p +1 reviewed frame_shift_del c.911_914 p.N305fs 0.040:0.049:0.060:0.352 superfamily_L domain-like HMMPfam_TIR,HMMSmart_SM00255,superfamily_Toll/Interleukin receptor TIR domain,HMMPfam_LRRCT,HMMSmart_SM00082,HMMPfam_LRR_1,HMMSmart_SM00369,HMMSmart_SM00365,superfamily_L domain-like - no_errors NA NA NA NA NA NA NA NA NA +SMC1A 0 genome.wustl.edu 37 X 53441941 53441941 + Missense_Mutation SNP C C T TCGA-AB-2844-03B-01W-0728-08 TCGA-AB-2844-11B-01W-0729-08 C C C T C C Verified Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq 1 dbGAP Illumina HiSeq 4d9be233-933e-4375-a92d-ffa0ad9b08c8 6dd909da-225d-49c4-9dd0-fc061c8302d9 X 53458666 53458666 C T SNP SMC1A NM_006306.2 human genbank 54_36p -1 reviewed missense c.287 p.R96H 0.998 HMMPfam_SMC_N,superfamily_SSF52540 HMMPfam_SMC_N,HMMPfam_SMC_hinge,superfamily_SMC_hinge,superfamily_SSF52540 - no_errors 138 11 7.24 2 8 80.00 1 65 98.48 +LOC100130211 0 genome.wustl.edu 37 X 85415290 85415290 + Missense_Mutation SNP G G A TCGA-AB-2844-03B-01W-0728-08 TCGA-AB-2844-11B-01W-0729-08 G G G A G G Verified Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq 1 dbGAP Illumina HiSeq 4d9be233-933e-4375-a92d-ffa0ad9b08c8 6dd909da-225d-49c4-9dd0-fc061c8302d9 X 85301946 85301946 G A SNP LOC100130211 XM_001717632.1 human genbank 54_36p -1 model missense c.1055 p.A352V 1.000 NULL HMMPfam_GTP_EFTU,HMMPfam_GTP_EFTU_D3,HMMPfam_GTP_EFTU_D2,superfamily_Translation proteins,superfamily_EF-Tu/eEF-1alpha/eIF2-gamma C-terminal domain,superfamily_P-loop containing nucleoside triphosphate hydrolases - pseudogene 30 4 11.76 1 30 96.77 3 0 0.00 +PRPF3 0 genome.wustl.edu 37 1 150310718 150310718 + Missense_Mutation SNP T T C TCGA-AB-2844-03B-01W-0728-08 TCGA-AB-2844-11B-01W-0729-08 T T T C T T Verified Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq 1 dbGAP Illumina HiSeq 4d9be233-933e-4375-a92d-ffa0ad9b08c8 6dd909da-225d-49c4-9dd0-fc061c8302d9 1 148577342 148577342 T C SNP PRPF3 NM_004698.2 human genbank 54_36p +1 reviewed missense c.1118 p.I373T 1.000 HMMPfam_PRP3 HMMPfam_PWI,HMMSmart_SM00311,HMMPfam_PRP3,superfamily_PWI domain - no_errors 470 43 8.30 42 42 50.00 42 43 50.59 +PSME4 0 genome.wustl.edu 37 2 54128663 54128663 + Missense_Mutation SNP C C A TCGA-AB-2844-03B-01W-0728-08 TCGA-AB-2844-11B-01W-0729-08 C C C A C C Verified Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq 1 dbGAP Illumina HiSeq 4d9be233-933e-4375-a92d-ffa0ad9b08c8 6dd909da-225d-49c4-9dd0-fc061c8302d9 2 53982167 53982167 C A SNP PSME4 NM_014614.2 human genbank 54_36p -1 validated missense c.2767 p.G923C 1.000 superfamily_ARM repeat HMMPfam_HEAT,superfamily_ARM repeat - no_errors 96 9 8.57 34 53 60.92 19 25 56.82 +SENP7 0 genome.wustl.edu 37 3 101136588 101136588 + Nonsense_Mutation SNP G G A TCGA-AB-2844-03B-01W-0728-08 TCGA-AB-2844-11B-01W-0729-08 G G G A G G Verified Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq 1 dbGAP Illumina HiSeq 4d9be233-933e-4375-a92d-ffa0ad9b08c8 6dd909da-225d-49c4-9dd0-fc061c8302d9 3 102619278 102619278 G A SNP SENP7 NM_020654.1 human genbank 54_36p -1 validated nonsense c.331 p.R111* 1.000 NULL HMMPfam_Peptidase_C48,superfamily_Cysteine proteinases - no_errors 116 8 6.45 54 47 46.53 8 6 42.86 +TRA2B 0 genome.wustl.edu 37 3 185643365 185643365 + Missense_Mutation SNP G G C TCGA-AB-2844-03B-01W-0728-08 TCGA-AB-2844-11B-01W-0729-08 G G G C G G Verified Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq 1 dbGAP Illumina HiSeq 4d9be233-933e-4375-a92d-ffa0ad9b08c8 6dd909da-225d-49c4-9dd0-fc061c8302d9 3 187126059 187126059 G C SNP TRA2B NM_004593.2 human genbank 54_36p -1 validated missense c.220 p.R74G 1.000 NULL HMMPfam_RRM_1,HMMSmart_SM00360,superfamily_RNA-binding domain RBD - no_errors 137 8 5.48 31 37 53.62 150 124 45.09 +PCDHB18 0 genome.wustl.edu 37 5 140615740 140615740 + Silent SNP C C A TCGA-AB-2844-03B-01W-0728-08 TCGA-AB-2844-11B-01W-0729-08 C C C A C C Verified Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq 1 dbGAP Illumina HiSeq 4d9be233-933e-4375-a92d-ffa0ad9b08c8 6dd909da-225d-49c4-9dd0-fc061c8302d9 5 140595924 140595924 C A SNP PCDHB18 ENST00000274705 human ensembl 54_36p +1 known silent c.1455 p.S485 0.981 HMMPfam_Cadherin,HMMSmart_CA,superfamily_Cadherin HMMPfam_Cadherin,HMMSmart_CA,PatternScan_CADHERIN_1,HMMPfam_Cadherin_2,superfamily_Cadherin - no_errors 51 0 0.00 9 9 50.00 0 0 0.00 +MUC17 0 genome.wustl.edu 37 7 100691294 100691294 + Missense_Mutation SNP T T C TCGA-AB-2844-03B-01W-0728-08 TCGA-AB-2844-11B-01W-0729-08 T T T C T T Verified Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq 1 dbGAP Illumina HiSeq 4d9be233-933e-4375-a92d-ffa0ad9b08c8 6dd909da-225d-49c4-9dd0-fc061c8302d9 7 100478014 100478014 T C SNP MUC17 NM_001040105.1 human genbank 54_36p +1 provisional missense c.12433 p.S4145P 0.000 superfamily_EGF/Laminin HMMPfam_SEA,HMMSmart_SM00200,PatternScan_EGF_1,superfamily_EGF/Laminin,superfamily_SEA domain - no_errors 184 8 4.06 11 12 52.17 NA NA NA +SLC18A1 0 genome.wustl.edu 37 8 20038468 20038468 + Missense_Mutation SNP C C T TCGA-AB-2844-03B-01W-0728-08 TCGA-AB-2844-11B-01W-0729-08 C C C T C C Verified Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq 1 dbGAP Illumina HiSeq 4d9be233-933e-4375-a92d-ffa0ad9b08c8 6dd909da-225d-49c4-9dd0-fc061c8302d9 8 20082748 20082748 C T SNP SLC18A1 NM_003053.2 human genbank 54_36p -1 validated missense c.8 p.R3Q 0.065 NULL HMMPfam_MFS_1,superfamily_MFS_gen_substrate_transporter - no_errors 111 9 7.38 33 21 38.89 NA NA NA +SMC5 0 genome.wustl.edu 37 9 72920272 72920272 + Missense_Mutation SNP A A T TCGA-AB-2844-03B-01W-0728-08 TCGA-AB-2844-11B-01W-0729-08 A A A T A A Verified Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq 1 dbGAP Illumina HiSeq 4d9be233-933e-4375-a92d-ffa0ad9b08c8 6dd909da-225d-49c4-9dd0-fc061c8302d9 9 72110092 72110092 A T SNP SMC5 NM_015110.3 human genbank 54_36p +1 validated missense c.1574 p.K525I 0.794 HMMPfam_SMC_N,superfamily_SSF52540 HMMPfam_SMC_N,superfamily_SSF52540 - no_errors 108 9 7.50 63 53 45.69 18 18 50.00 +KCNA1 0 genome.wustl.edu 37 12 5020811 5020811 + Silent SNP C C T TCGA-AB-2844-03B-01W-0728-08 TCGA-AB-2844-11B-01W-0729-08 C C C T C C Verified Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq 1 dbGAP Illumina HiSeq 4d9be233-933e-4375-a92d-ffa0ad9b08c8 6dd909da-225d-49c4-9dd0-fc061c8302d9 12 4891072 4891072 C T SNP KCNA1 NM_000217.2 human genbank 54_36p +1 reviewed silent c.267 p.F89 1.000 HMMSmart_BTB,HMMPfam_K_tetra,superfamily_BTB/POZ_fold HMMSmart_BTB,HMMPfam_K_tetra,HMMPfam_Ion_trans,superfamily_BTB/POZ_fold,superfamily_SSF81324 - no_errors 115 10 7.94 34 25 42.37 NA NA NA +FANCM 0 genome.wustl.edu 37 14 45633583 45633583 + Missense_Mutation SNP G G A TCGA-AB-2844-03B-01W-0728-08 TCGA-AB-2844-11B-01W-0729-08 G G G A G G Verified Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq 1 dbGAP Illumina HiSeq 4d9be233-933e-4375-a92d-ffa0ad9b08c8 6dd909da-225d-49c4-9dd0-fc061c8302d9 14 44703333 44703333 G A SNP FANCM NM_020937.2 human genbank 54_36p +1 reviewed missense c.1603 p.G535S 1.000 HMMPfam_Helicase_C,HMMSmart_SM00490,superfamily_P-loop containing nucleoside triphosphate hydrolases HMMPfam_Helicase_C,HMMSmart_SM00490,HMMPfam_ERCC4,superfamily_RuvA domain 2-like,superfamily_Restriction endonuclease-like,HMMPfam_DEAD,HMMSmart_SM00487,superfamily_P-loop containing nucleoside triphosphate hydrolases - no_errors 122 7 5.38 102 73 41.71 2 3 60.00 +LOC642131 0 genome.wustl.edu 37 15 22473177 22473177 + Missense_Mutation SNP T T C TCGA-AB-2844-03B-01W-0728-08 TCGA-AB-2844-11B-01W-0729-08 T T T C T T Verified Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq 1 dbGAP Illumina HiSeq 4d9be233-933e-4375-a92d-ffa0ad9b08c8 6dd909da-225d-49c4-9dd0-fc061c8302d9 15 19974541 19974541 T C SNP LOC642131 XM_001716834.1 human genbank 54_36p -1 model missense c.115 p.K39E 0.784 HMMSmart_SM00409,HMMPfam_V-set,superfamily_Immunoglobulin HMMSmart_SM00406,HMMSmart_SM00409,HMMPfam_V-set,superfamily_Immunoglobulin - no_errors 37 4 9.76 9 8 47.06 2 0 0.00 +MAU2 0 genome.wustl.edu 37 19 19465222 19465222 + Missense_Mutation SNP C C T TCGA-AB-2844-03B-01W-0728-08 TCGA-AB-2844-11B-01W-0729-08 C C C T C C Verified Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq 1 dbGAP Illumina HiSeq 4d9be233-933e-4375-a92d-ffa0ad9b08c8 6dd909da-225d-49c4-9dd0-fc061c8302d9 19 19326222 19326222 C T SNP KIAA0892 NM_015329.3 human genbank 54_36p +1 validated missense c.1607 p.S536L 0.992 HMMPfam_Cohesin_load,superfamily_TPR-like HMMPfam_Cohesin_load,HMMSmart_SM00028,superfamily_TPR-like - no_errors 39 0 0.00 8 4 33.33 50 46 47.92 +VRK3 0 genome.wustl.edu 37 19 50498516 50498516 + Silent SNP C C T TCGA-AB-2844-03B-01W-0728-08 TCGA-AB-2844-11B-01W-0729-08 C C C T C C Verified Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq 1 dbGAP Illumina HiSeq 4d9be233-933e-4375-a92d-ffa0ad9b08c8 6dd909da-225d-49c4-9dd0-fc061c8302d9 19 55190328 55190328 C T SNP VRK3 NM_016440.1 human genbank 54_36p -1 reviewed silent c.696 p.K232 0.991 HMMSmart_SM00220 HMMSmart_SM00220,superfamily_Protein kinase-like (PK-like) - no_errors 305 10 3.14 36 25 40.98 30 29 49.15 +WT1 0 genome.wustl.edu 37 11 32417910 32417911 + Frame_Shift_Ins INS - - ACCGTACA TCGA-AB-2844-03B-01W-0728-08 TCGA-AB-2844-11B-01W-0729-08 - - - ACCGTACA - - Verified Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq 1 dbGAP Illumina HiSeq 4d9be233-933e-4375-a92d-ffa0ad9b08c8 6dd909da-225d-49c4-9dd0-fc061c8302d9 11 32374486 32374487 - ACCGTACA INS WT1 NM_024426.3 human genbank 54_36p -1 reviewed frame_shift_ins c.1142_1141 p.S381fs 0.996:0.996 HMMPfam_WT1 HMMPfam_WT1,HMMPfam_zf-C2H2,PatternScan_ZINC_FINGER_C2H2_1,HMMSmart_SM00355,superfamily_C2H2 and C2HC zinc fingers - no_errors NA NA NA NA NA NA NA NA NA +FLT3 0 genome.wustl.edu 37 13 28608214 28608215 + In_Frame_Ins INS - - TTACCAAACTCTAAATTTTCTCTTGGAAACTCCCATTTGAGATCATATTCATATTCTCTGAAATCAACGTAGAAGTACTCATTATCT TCGA-AB-2844-03B-01W-0728-08 TCGA-AB-2844-11B-01W-0729-08 - - - TTACCAAACTCTAAATTTTCTCTTGGAAACTCCCATTTGAGATCATATTCATATTCTCTGAAATCAACGTAGAAGTACTCATTATCT - - Verified Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq 1 dbGAP Illumina HiSeq 4d9be233-933e-4375-a92d-ffa0ad9b08c8 6dd909da-225d-49c4-9dd0-fc061c8302d9 13 27506214 27506215 - TTACCAAACTCTAAATTTTCTCTTGGAAACTCCCATTTGAGATCATATTCATATTCTCTGAAATCAACGTAGAAGTACTCATTATCT INS FLT3 NM_004119.2 human genbank 54_36p -1 reviewed in_frame_ins in_frame_ins 0.779:0.796 - - - no_errors NA NA NA NA NA NA NA NA NA +EPHA2 0 genome.wustl.edu 37 1 16475259 16475259 + Missense_Mutation SNP G G A TCGA-AB-2845-03D-01W-0755-09 TCGA-AB-2845-11D-01W-0755-09 G G G A G G Verified Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq 1 dbGAP Illumina HiSeq 98d27719-6f38-433a-ba0a-a14cb32958d8 542cdd70-b2e9-4232-889c-318a2c5cf5b7 1 16347846 16347846 G A SNP EPHA2 NM_004431.2 human genbank 54_36p -1 reviewed missense c.437 p.A146V 1.000 HMMPfam_Ephrin_lbd,HMMSmart_EPH_lbd,superfamily_Gal_bind_like HMMPfam_Ephrin_lbd,HMMSmart_EPH_lbd,HMMPfam_Pkinase_Tyr,HMMSmart_TyrKc,PatternScan_RECEPTOR_TYR_KIN_V_1,PatternScan_RECEPTOR_TYR_KIN_V_2,HMMPfam_SAM_1,HMMSmart_SAM,HMMPfam_fn3,HMMSmart_FN3,PatternScan_PROTEIN_KINASE_TYR,superfamily_FN_III-like,superfamily_Gal_bind_like,superfamily_Grow_fac_recept,superfamily_SAM_homology,superfamily_Kinase_like,PatternScan_PROTEIN_KINASE_ATP - no_errors 128 6 4.48 21 22 51.16 8 9 52.94 +CAPRIN2 0 genome.wustl.edu 37 12 30906627 30906627 + Nonsense_Mutation SNP C C T TCGA-AB-2845-03D-01W-0755-09 TCGA-AB-2845-11D-01W-0755-09 C C C T C C Verified Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq 1 dbGAP Illumina HiSeq 98d27719-6f38-433a-ba0a-a14cb32958d8 542cdd70-b2e9-4232-889c-318a2c5cf5b7 12 30797894 30797894 C T SNP CAPRIN2 NM_001002259.1 human genbank 54_36p -1 validated nonsense c.71 p.W24* 0.015 NULL HMMPfam_C1q,HMMSmart_SM00110,superfamily_TNF-like - no_errors 138 3 2.11 35 32 47.76 8 6 42.86 +CEBPA 0 genome.wustl.edu 37 19 33793191 33793191 + Missense_Mutation SNP C C G TCGA-AB-2845-03D-01W-0755-09 TCGA-AB-2845-11D-01W-0755-09 C C C G C C Verified Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq 1 dbGAP Illumina HiSeq 98d27719-6f38-433a-ba0a-a14cb32958d8 542cdd70-b2e9-4232-889c-318a2c5cf5b7 19 38485031 38485031 C G SNP CEBPA NM_004364.3 human genbank 54_36p -1 reviewed missense c.130 p.A44P 0.957 NULL HMMSmart_BRLZ,PatternScan_BZIP_BASIC,HMMPfam_bZIP_2 - no_errors 0 0 0.00 0 0 0.00 116 90 43.48 +TET2 0 genome.wustl.edu 37 4 106180893 106180893 + Frame_Shift_Del DEL G G - TCGA-AB-2845-03D-01W-0755-09 TCGA-AB-2845-11D-01W-0755-09 G G G - G G Verified Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq 1 dbGAP Illumina HiSeq 98d27719-6f38-433a-ba0a-a14cb32958d8 542cdd70-b2e9-4232-889c-318a2c5cf5b7 4 106400342 106400342 G - DEL TET2 ENST00000265149 human ensembl 54_36p +1 known frame_shift_del c.327 p.K110fs 0.996 NULL NULL - no_start_codon 72 0 0.00 63 0 0.00 26 0 0.00 +CEBPA 0 genome.wustl.edu 37 19 33792390 33792391 + In_Frame_Ins INS - - CGGGTTCTGCTT TCGA-AB-2845-03D-01W-0755-09 TCGA-AB-2845-11D-01W-0755-09 - - - CGGGTTCTGCTT - - Verified Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq 1 dbGAP Illumina HiSeq 98d27719-6f38-433a-ba0a-a14cb32958d8 542cdd70-b2e9-4232-889c-318a2c5cf5b7 19 38484230 38484231 - CGGGTTCTGCTT INS CEBPA NM_004364.3 human genbank 54_36p -1 reviewed in_frame_ins c.931_930 p.310in_frame_insKQNP 1.000:1.000 HMMSmart_BRLZ,HMMPfam_bZIP_2 HMMSmart_BRLZ,PatternScan_BZIP_BASIC,HMMPfam_bZIP_2 - no_errors NA NA NA NA NA NA NA NA NA +CEBPA 0 genome.wustl.edu 37 19 33793190 33793191 + Frame_Shift_Del DEL GC GC - TCGA-AB-2845-03D-01W-0755-09 TCGA-AB-2845-11D-01W-0755-09 GC GC GC - GC GC Verified Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq 1 dbGAP Illumina HiSeq 98d27719-6f38-433a-ba0a-a14cb32958d8 542cdd70-b2e9-4232-889c-318a2c5cf5b7 19 38485030 38485031 GC - DEL CEBPA NM_004364.3 human genbank 54_36p -1 reviewed frame_shift_del c.131_130 p.A44fs 0.988:0.957 NULL HMMSmart_BRLZ,PatternScan_BZIP_BASIC,HMMPfam_bZIP_2 - no_errors 0 0 0.00 0 0 0.00 0 84 34.15 +TMEM47 0 genome.wustl.edu 37 X 34657408 34657408 + Missense_Mutation SNP C C T TCGA-AB-2846-03B-01W-0728-08 TCGA-AB-2846-11B-01W-0729-08 C C C T C C Verified Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq 1 dbGAP Illumina HiSeq 67e8fb6c-72b9-4cb8-ad4e-cb9da7c77c88 a377205f-d22d-4637-b728-0d9decbdf206 X 34567329 34567329 C T SNP TMEM47 NM_031442.3 human genbank 54_36p -1 reviewed missense c.323 p.R108Q 1.000 NULL NULL - no_errors 104 4 3.70 18 10 35.71 1 0 0.00 +CENPF 0 genome.wustl.edu 37 1 214819808 214819808 + Missense_Mutation SNP C C G TCGA-AB-2846-03B-01W-0728-08 TCGA-AB-2846-11B-01W-0729-08 C C C G C C Verified Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq 1 dbGAP Illumina HiSeq 67e8fb6c-72b9-4cb8-ad4e-cb9da7c77c88 a377205f-d22d-4637-b728-0d9decbdf206 1 212886431 212886431 C G SNP CENPF NM_016343.3 human genbank 54_36p +1 reviewed missense c.6895 p.L2299V 0.000 NULL superfamily_Prefoldin,HMMPfam_Rb-bdg_C_Cenp-F,HMMPfam_Cenp-F_N,HMMPfam_Cenp-F_leu_zip,superfamily_Spectrin repeat - no_errors 46 0 0.00 16 9 36.00 16 22 57.89 +CLDN11 0 genome.wustl.edu 37 3 170140969 170140969 + Missense_Mutation SNP G G A TCGA-AB-2846-03B-01W-0728-08 TCGA-AB-2846-11B-01W-0729-08 G G G A G G Verified Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq 1 dbGAP Illumina HiSeq 67e8fb6c-72b9-4cb8-ad4e-cb9da7c77c88 a377205f-d22d-4637-b728-0d9decbdf206 3 171623663 171623663 G A SNP CLDN11 NM_005602.5 human genbank 54_36p +1 reviewed missense c.245 p.R82H 1.000 HMMPfam_PMP22_Claudin HMMPfam_PMP22_Claudin,PatternScan_CLAUDIN - no_errors 106 0 0.00 15 14 48.28 NA NA NA +ARAP2 0 genome.wustl.edu 37 4 36152619 36152619 + Missense_Mutation SNP A A G TCGA-AB-2846-03B-01W-0728-08 TCGA-AB-2846-11B-01W-0729-08 A A A G A A Verified Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq 1 dbGAP Illumina HiSeq 67e8fb6c-72b9-4cb8-ad4e-cb9da7c77c88 a377205f-d22d-4637-b728-0d9decbdf206 4 35829014 35829014 A G SNP ARAP2 NM_015230.2 human genbank 54_36p -1 reviewed missense c.2800 p.Y934H 1.000 HMMPfam_PH,HMMSmart_SM00233,superfamily_PH domain-like HMMPfam_RA,HMMPfam_RhoGAP,HMMSmart_SM00324,HMMPfam_ArfGap,HMMSmart_SM00105,superfamily_Pyk2-associated protein beta ARF-GAP domain,HMMPfam_SAM_1,HMMSmart_SM00454,HMMPfam_PH,HMMSmart_SM00233,superfamily_GTPase activation domain GAP,superfamily_SAM/Pointed domain,superfamily_PH domain-like - no_errors 132 5 3.65 14 6 30.00 7 8 53.33 +ZFP42 0 genome.wustl.edu 37 4 188924151 188924151 + Missense_Mutation SNP G G A TCGA-AB-2846-03B-01W-0728-08 TCGA-AB-2846-11B-01W-0729-08 G G G A G G Verified Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq 1 dbGAP Illumina HiSeq 67e8fb6c-72b9-4cb8-ad4e-cb9da7c77c88 a377205f-d22d-4637-b728-0d9decbdf206 4 189161145 189161145 G A SNP ZFP42 NM_174900.3 human genbank 54_36p +1 validated missense c.190 p.G64R 0.001 NULL HMMPfam_zf-C2H2,PatternScan_ZINC_FINGER_C2H2_1,HMMSmart_SM00355,superfamily_C2H2 and C2HC zinc fingers - no_errors 71 1 1.39 19 13 40.62 NA NA NA +PDE6A 0 genome.wustl.edu 37 5 149324044 149324044 + Silent SNP G G A TCGA-AB-2846-03B-01W-0728-08 TCGA-AB-2846-11B-01W-0729-08 G G G A G G Verified Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq 1 dbGAP Illumina HiSeq 67e8fb6c-72b9-4cb8-ad4e-cb9da7c77c88 a377205f-d22d-4637-b728-0d9decbdf206 5 149304237 149304237 G A SNP PDE6A NM_000440.2 human genbank 54_36p -1 reviewed silent c.193 p.L65 0.999 superfamily_SSF55781 HMMPfam_PDEase_I,PatternScan_PDEASE_I,HMMPfam_GAF,HMMSmart_GAF,HMMSmart_HDc,superfamily_SSF109604,superfamily_SSF55781 - no_errors 204 3 1.45 38 25 39.68 NA NA NA +LOC728843 0 genome.wustl.edu 37 5 165455921 165455921 + RNA SNP C C A TCGA-AB-2846-03B-01W-0728-08 TCGA-AB-2846-11B-01W-0729-08 C C C A C C Verified Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq 1 dbGAP Illumina HiSeq 67e8fb6c-72b9-4cb8-ad4e-cb9da7c77c88 a377205f-d22d-4637-b728-0d9decbdf206 5 165388499 165388499 C A SNP LOC728843 XR_015391.1 human genbank 54_36p -1 model rna NULL NULL 1.000 - - - pseudogene 93 2 2.08 25 16 39.02 1 0 0.00 +DST 0 genome.wustl.edu 37 6 56401599 56401599 + Missense_Mutation SNP C C T TCGA-AB-2846-03B-01W-0728-08 TCGA-AB-2846-11B-01W-0729-08 C C C T C C Verified Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq 1 dbGAP Illumina HiSeq 67e8fb6c-72b9-4cb8-ad4e-cb9da7c77c88 a377205f-d22d-4637-b728-0d9decbdf206 6 56509558 56509558 C T SNP DST NM_183380.1 human genbank 54_36p -1 reviewed missense c.9857 p.R3286Q 0.169 HMMPfam_Spectrin,HMMSmart_SM00150,superfamily_Spectrin repeat PatternScan_ACTININ_1,PatternScan_ACTININ_2,HMMPfam_CH,HMMSmart_SM00033,HMMPfam_Spectrin,HMMSmart_SM00054,HMMPfam_GAS2,HMMSmart_SM00243,superfamily_Calponin-homology domain CH-domain,HMMSmart_SM00150,PatternScan_EF_HAND_1,HMMPfam_efhand,superfamily_Spectrin repeat,superfamily_EF-hand - no_errors 70 4 5.41 13 10 43.48 2 0 0.00 +MGAM 0 genome.wustl.edu 37 7 141767223 141767223 + Missense_Mutation SNP C C T TCGA-AB-2846-03B-01W-0728-08 TCGA-AB-2846-11B-01W-0729-08 C C C T C C Verified Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq 1 dbGAP Illumina HiSeq 67e8fb6c-72b9-4cb8-ad4e-cb9da7c77c88 a377205f-d22d-4637-b728-0d9decbdf206 7 141413692 141413692 C T SNP MGAM ENST00000312952 human ensembl 54_36p +1 known missense c.5002 p.R1668C 0.019 HMMPfam_Glyco_hydro_31 HMMPfam_Glyco_hydro_31,PatternScan_GLYCOSYL_HYDROL_F31_1,PatternScan_GLYCOSYL_HYDROL_F31_2,HMMPfam_Trefoil,HMMSmart_SM00018,superfamily_Trefoil,superfamily_(Trans)glycosidases,PatternScan_P_TREFOIL - no_stop_codon 77 7 8.33 18 9 33.33 NA NA NA +uc004amh.1 0 genome.wustl.edu 37 9 84547723 84547723 + Missense_Mutation SNP G G A TCGA-AB-2846-03B-01W-0728-08 TCGA-AB-2846-11B-01W-0729-08 G G G A G G Verified Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq 1 dbGAP Illumina HiSeq 67e8fb6c-72b9-4cb8-ad4e-cb9da7c77c88 a377205f-d22d-4637-b728-0d9decbdf206 9 83737543 83737543 G A SNP uc004amh.1 ENST00000341875 human ensembl 54_36p +1 known missense c.2647 p.V883I 0.000 NULL NULL - no_errors 82 0 0.00 21 18 46.15 NA NA NA +WSCD2 0 genome.wustl.edu 37 12 108600074 108600074 + Missense_Mutation SNP A A G TCGA-AB-2846-03B-01W-0728-08 TCGA-AB-2846-11B-01W-0729-08 A A A G A A Verified Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq 1 dbGAP Illumina HiSeq 67e8fb6c-72b9-4cb8-ad4e-cb9da7c77c88 a377205f-d22d-4637-b728-0d9decbdf206 12 107124204 107124204 A G SNP WSCD2 NM_014653.2 human genbank 54_36p +1 validated missense c.391 p.I131V 1.000 HMMPfam_WSC,HMMSmart_SM00321 HMMPfam_WSC,HMMSmart_SM00321,superfamily_P-loop containing nucleoside triphosphate hydrolases - no_errors 176 12 6.38 34 24 41.38 NA NA NA +OR4Q3 0 genome.wustl.edu 37 14 20215692 20215692 + Missense_Mutation SNP A A G TCGA-AB-2846-03B-01W-0728-08 TCGA-AB-2846-11B-01W-0729-08 A A A G A A Verified Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq 1 dbGAP Illumina HiSeq 67e8fb6c-72b9-4cb8-ad4e-cb9da7c77c88 a377205f-d22d-4637-b728-0d9decbdf206 14 19285532 19285532 A G SNP OR4Q3 NM_172194.1 human genbank 54_36p +1 provisional missense c.106 p.I36V 0.004 superfamily_SSF81321 HMMPfam_7tm_1,PatternScan_G_PROTEIN_RECEP_F1_1,superfamily_SSF81321 - no_errors 464 12 2.52 61 46 42.59 NA NA NA +GEMIN4 0 genome.wustl.edu 37 17 649463 649463 + Missense_Mutation SNP A A T TCGA-AB-2846-03B-01W-0728-08 TCGA-AB-2846-11B-01W-0729-08 A A A T A A Verified Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq 1 dbGAP Illumina HiSeq 67e8fb6c-72b9-4cb8-ad4e-cb9da7c77c88 a377205f-d22d-4637-b728-0d9decbdf206 17 596213 596213 A T SNP GEMIN4 NM_015721.2 human genbank 54_36p -1 reviewed missense c.1820 p.L607H 0.999 NULL NULL - no_errors 55 1 1.79 3 5 62.50 18 21 53.85 +SLC17A7 0 genome.wustl.edu 37 19 49933846 49933846 + Missense_Mutation SNP G G A TCGA-AB-2846-03B-01W-0728-08 TCGA-AB-2846-11B-01W-0729-08 G G G A G G Verified Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq 1 dbGAP Illumina HiSeq 67e8fb6c-72b9-4cb8-ad4e-cb9da7c77c88 a377205f-d22d-4637-b728-0d9decbdf206 19 54625658 54625658 G A SNP SLC17A7 NM_020309.3 human genbank 54_36p -1 reviewed missense c.1613 p.P538L 0.264 NULL HMMPfam_MFS_1,superfamily_MFS_gen_substrate_transporter - no_errors 18 0 0.00 7 4 36.36 NA NA NA +TM9SF4 0 genome.wustl.edu 37 20 30747885 30747885 + Missense_Mutation SNP G G A TCGA-AB-2846-03B-01W-0728-08 TCGA-AB-2846-11B-01W-0729-08 G G G A G G Verified Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq 1 dbGAP Illumina HiSeq 67e8fb6c-72b9-4cb8-ad4e-cb9da7c77c88 a377205f-d22d-4637-b728-0d9decbdf206 20 30211546 30211546 G A SNP TM9SF4 NM_014742.3 human genbank 54_36p +1 validated missense c.1609 p.V537I 1.000 HMMPfam_EMP70 HMMPfam_EMP70 - no_errors 245 13 5.04 14 22 61.11 56 38 40.43 +KIT 0 genome.wustl.edu 37 4 55589766 55589766 + Frame_Shift_Del DEL G G - TCGA-AB-2846-03B-01W-0728-08 TCGA-AB-2846-11B-01W-0729-08 G G G - G G Verified Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq 1 dbGAP Illumina HiSeq 67e8fb6c-72b9-4cb8-ad4e-cb9da7c77c88 a377205f-d22d-4637-b728-0d9decbdf206 4 55284523 55284523 G - DEL KIT NM_000222.2 human genbank 54_36p +1 reviewed frame_shift_del c.1248 p.T417fs 0.990 NULL HMMPfam_Pkinase_Tyr,HMMSmart_TyrKc,PatternScan_RECEPTOR_TYR_KIN_III,HMMSmart_IGc2,HMMSmart_IG,PatternScan_PROTEIN_KINASE_TYR,superfamily_Kinase_like,HMMPfam_ig,PatternScan_PROTEIN_KINASE_ATP,superfamily_SSF48726 - no_errors 41 1 2.38 17 6 24.00 71 0 0.00 +KIT 0 genome.wustl.edu 37 4 55589770 55589771 + Frame_Shift_Ins INS - - AGGTGGG TCGA-AB-2846-03B-01W-0728-08 TCGA-AB-2846-11B-01W-0729-08 - - - AGGTGGG - - Verified Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq 1 dbGAP Illumina HiSeq 67e8fb6c-72b9-4cb8-ad4e-cb9da7c77c88 a377205f-d22d-4637-b728-0d9decbdf206 4 55284527 55284528 - AGGTGGG INS KIT NM_000222.2 human genbank 54_36p +1 reviewed frame_shift_ins c.1252_1253 p.Y418fs 0.005:0.002 NULL HMMPfam_Pkinase_Tyr,HMMSmart_TyrKc,PatternScan_RECEPTOR_TYR_KIN_III,HMMSmart_IGc2,HMMSmart_IG,PatternScan_PROTEIN_KINASE_TYR,superfamily_Kinase_like,HMMPfam_ig,PatternScan_PROTEIN_KINASE_ATP,superfamily_SSF48726 - no_errors NA NA NA NA NA NA NA NA NA +WT1 0 genome.wustl.edu 37 11 32417909 32417910 + Frame_Shift_Ins INS - - A TCGA-AB-2846-03B-01W-0728-08 TCGA-AB-2846-11B-01W-0729-08 - - - A - - Verified Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq 1 dbGAP Illumina HiSeq 67e8fb6c-72b9-4cb8-ad4e-cb9da7c77c88 a377205f-d22d-4637-b728-0d9decbdf206 11 32374485 32374486 - A INS WT1 NM_024426.3 human genbank 54_36p -1 reviewed frame_shift_ins c.1143_1142 p.A382fs 0.771:0.996 HMMPfam_WT1 HMMPfam_WT1,HMMPfam_zf-C2H2,PatternScan_ZINC_FINGER_C2H2_1,HMMSmart_SM00355,superfamily_C2H2 and C2HC zinc fingers - no_errors 53 0 0.00 6 1 14.29 13 0 0.00 +MYBPH 0 genome.wustl.edu 37 1 203139507 203139507 + Silent SNP C C T TCGA-AB-2847-03B-01W-0728-08 TCGA-AB-2847-11B-01W-0729-08 C C C T C C Verified Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq 1 dbGAP Illumina HiSeq 38b6c99c-08a1-4341-8945-46c0e722e43f 2fa70aaf-e4b8-41f3-b226-521b4e259315 1 201406130 201406130 C T SNP MYBPH NM_004997.2 human genbank 54_36p -1 validated silent c.1005 p.S335 0.810 HMMPfam_fn3,HMMSmart_FN3,superfamily_FN_III-like HMMSmart_IGc2,HMMSmart_IG,HMMPfam_fn3,HMMSmart_FN3,superfamily_FN_III-like,HMMPfam_I-set,superfamily_SSF48726 - no_errors 168 1 0.58 78 47 37.30 NA NA NA +ARF1 0 genome.wustl.edu 37 1 228285059 228285059 + Silent SNP C C T TCGA-AB-2847-03B-01W-0728-08 TCGA-AB-2847-11B-01W-0729-08 C C C T C C Verified Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq 1 dbGAP Illumina HiSeq 38b6c99c-08a1-4341-8945-46c0e722e43f 2fa70aaf-e4b8-41f3-b226-521b4e259315 1 226351682 226351682 C T SNP ARF1 NM_001024226.1 human genbank 54_36p +1 reviewed silent c.165 p.T55 0.940 HMMSmart_SM00175,HMMSmart_SM00178,HMMSmart_SM00177,HMMPfam_Arf,superfamily_P-loop containing nucleoside triphosphate hydrolases HMMSmart_SM00175,HMMSmart_SM00178,HMMSmart_SM00177,PatternScan_ARF,HMMPfam_Arf,superfamily_P-loop containing nucleoside triphosphate hydrolases - no_errors 38 0 0.00 57 30 33.71 208 190 47.74 +LRP1B 0 genome.wustl.edu 37 2 141474288 141474288 + Silent SNP C C T TCGA-AB-2847-03B-01W-0728-08 TCGA-AB-2847-11B-01W-0729-08 C C C T C C Verified Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq 1 dbGAP Illumina HiSeq 38b6c99c-08a1-4341-8945-46c0e722e43f 2fa70aaf-e4b8-41f3-b226-521b4e259315 2 141190758 141190758 C T SNP LRP1B NM_018557.2 human genbank 54_36p -1 validated silent c.5856 p.L1952 1.000 HMMPfam_Ldl_recept_b,HMMSmart_LY,superfamily_SSF63825 HMMPfam_Ldl_recept_b,HMMSmart_LY,PatternScan_ASX_HYDROXYL,HMMPfam_NHL,HMMSmart_EGF_CA,HMMPfam_Ldl_recept_a,HMMSmart_LDLa,PatternScan_LDLRA_1,superfamily_LDL_rcpt_classA_cys-rich,HMMPfam_EGF,HMMSmart_EGF,PatternScan_EGF_1,PatternScan_EGF_2,HMMPfam_EGF_CA,HMMPfam_EGF_2,PatternScan_EGF_CA,superfamily_SSF57196,superfamily_SSF63825 - no_errors 219 3 1.35 300 175 36.08 NA NA NA +CSRNP1 0 genome.wustl.edu 37 3 39186566 39186566 + Silent SNP C C T TCGA-AB-2847-03B-01W-0728-08 TCGA-AB-2847-11B-01W-0729-08 C C C T C C Verified Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq 1 dbGAP Illumina HiSeq 38b6c99c-08a1-4341-8945-46c0e722e43f 2fa70aaf-e4b8-41f3-b226-521b4e259315 3 39161570 39161570 C T SNP AXUD1 NM_033027.3 human genbank 54_36p -1 reviewed silent c.387 p.A129 0.036 NULL NULL - no_errors 141 2 1.37 60 33 35.11 30 13 30.23 +ADAMTS16 0 genome.wustl.edu 37 5 5239824 5239824 + Missense_Mutation SNP G G A TCGA-AB-2847-03B-01W-0728-08 TCGA-AB-2847-11B-01W-0729-08 G G G A G G Verified Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq 1 dbGAP Illumina HiSeq 38b6c99c-08a1-4341-8945-46c0e722e43f 2fa70aaf-e4b8-41f3-b226-521b4e259315 5 5292824 5292824 G A SNP ADAMTS16 NM_139056.2 human genbank 54_36p +1 reviewed missense c.2309 p.G770E 1.000 HMMPfam_ADAM_spacer1 HMMPfam_TSP_1,HMMSmart_SM00209,superfamily_TSP-1 type 1 repeat,HMMPfam_Reprolysin,HMMPfam_Pep_M12B_propep,PatternScan_CARBAMOYLTRANSFERASE,HMMPfam_ADAM_spacer1,HMMPfam_PLAC,superfamily_Metalloproteases ("zincins") catalytic domain - no_errors 152 2 1.29 221 108 32.73 NA NA NA +SCAND3 0 genome.wustl.edu 37 6 28543694 28543694 + Missense_Mutation SNP G G A TCGA-AB-2847-03B-01W-0728-08 TCGA-AB-2847-11B-01W-0729-08 G G G A G G Verified Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq 1 dbGAP Illumina HiSeq 38b6c99c-08a1-4341-8945-46c0e722e43f 2fa70aaf-e4b8-41f3-b226-521b4e259315 6 28651673 28651673 G A SNP SCAND3 NM_052923.1 human genbank 54_36p -1 provisional missense c.788 p.A263V 0.948 NULL HMMPfam_rve,HMMPfam_SCAN,HMMSmart_SCAN,HMMPfam_hATC,superfamily_RNaseH_fold - no_errors 143 0 0.00 116 65 34.76 NA NA NA +OR2AG1 0 genome.wustl.edu 37 11 6806660 6806660 + Missense_Mutation SNP C C A TCGA-AB-2847-03B-01W-0728-08 TCGA-AB-2847-11B-01W-0729-08 C C C A C C Verified Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq 1 dbGAP Illumina HiSeq 38b6c99c-08a1-4341-8945-46c0e722e43f 2fa70aaf-e4b8-41f3-b226-521b4e259315 11 6763236 6763236 C A SNP OR2AG1 NM_001004489.1 human genbank 54_36p +1 provisional missense c.392 p.T131K 0.977 HMMPfam_7tm_1,superfamily_Family A G protein-coupled receptor-like HMMPfam_7tm_1,superfamily_Family A G protein-coupled receptor-like - no_errors 188 0 0.00 160 82 33.20 NA NA NA +ACSM2A 0 genome.wustl.edu 37 16 20482538 20482538 + Missense_Mutation SNP G G A TCGA-AB-2847-03B-01W-0728-08 TCGA-AB-2847-11B-01W-0729-08 G G G A G G Verified Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq 1 dbGAP Illumina HiSeq 38b6c99c-08a1-4341-8945-46c0e722e43f 2fa70aaf-e4b8-41f3-b226-521b4e259315 16 20390039 20390039 G A SNP ACSM2A NM_001010845.2 human genbank 54_36p +1 validated missense c.740 p.G247D 0.999 HMMPfam_AMP-binding,superfamily_Acetyl-CoA synthetase-like HMMPfam_AMP-binding,PatternScan_AMP_BINDING,superfamily_Acetyl-CoA synthetase-like - no_errors 233 1 0.42 214 130 37.36 NA NA NA +SLC12A3 0 genome.wustl.edu 37 16 56933508 56933508 + Silent SNP C C T TCGA-AB-2847-03B-01W-0728-08 TCGA-AB-2847-11B-01W-0729-08 C C C T C C Verified Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq 1 dbGAP Illumina HiSeq 38b6c99c-08a1-4341-8945-46c0e722e43f 2fa70aaf-e4b8-41f3-b226-521b4e259315 16 55491009 55491009 C T SNP SLC12A3 NM_000339.2 human genbank 54_36p +1 reviewed silent c.2727 p.N909 1.000 NULL HMMPfam_AA_permease,HMMPfam_AA_permease_N - no_errors 316 3 0.93 164 72 30.38 2 0 0.00 +U2AF1 0 genome.wustl.edu 37 21 44524456 44524456 + Missense_Mutation SNP G G A TCGA-AB-2847-03B-01W-0728-08 TCGA-AB-2847-11B-01W-0729-08 G G G A G G Verified Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq 1 dbGAP Illumina HiSeq 38b6c99c-08a1-4341-8945-46c0e722e43f 2fa70aaf-e4b8-41f3-b226-521b4e259315 21 43397525 43397525 G A SNP U2AF1 NM_001025203.1 human genbank 54_36p -1 reviewed missense c.101 p.S34F 1.000 HMMPfam_zf-CCCH,HMMSmart_ZnF_C3H1 HMMPfam_RRM_1,HMMSmart_RRM,HMMPfam_zf-CCCH,HMMSmart_ZnF_C3H1,superfamily_SSF54928 - no_errors 74 2 2.60 45 17 27.42 64 84 56.76 +CRIPAK 0 genome.wustl.edu 37 4 1388345 1388346 + Frame_Shift_Del DEL CA CA - rs34051457 TCGA-AB-2847-03B-01W-0728-08 TCGA-AB-2847-11B-01W-0729-08 CA CA CA - CA CA Verified Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq 1 dbGAP Illumina HiSeq 38b6c99c-08a1-4341-8945-46c0e722e43f 2fa70aaf-e4b8-41f3-b226-521b4e259315 4 1378345 1378346 CA - DEL CRIPAK NM_175918.3 human genbank 54_36p +1 validated frame_shift_del c.46_47 p.T17fs 0.758:0.787 NULL HMMSmart_PostSET - no_errors 0 0 0.00 0 5 12.50 0 0 0.00 +NPM1 0 genome.wustl.edu 37 5 170837547 170837548 + Frame_Shift_Ins INS - - CAAG TCGA-AB-2848-03B-01W-0728-08 TCGA-AB-2848-11B-01W-0729-08 - - - CAAG - - Verified Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq 1 dbGAP Illumina HiSeq 248fcde9-6f05-4135-b181-1853e06c9ffe 55fc82f9-8a9e-48dd-b675-99e0622e22c3 5 170770152 170770153 - CAAG INS NPM1 NM_002520.1 human genbank 54_36p +1 validated frame_shift_ins c.863_864 p.W288fs 1.000:1.000 NULL HMMPfam_Nucleoplasmin,superfamily_Nucleoplasmin-like core domain - no_errors NA NA NA NA NA NA NA NA NA +GPR112 0 genome.wustl.edu 37 X 135427148 135427148 + Missense_Mutation SNP T T A TCGA-AB-2849-03B-01W-0728-08 TCGA-AB-2849-11B-01W-0729-08 T T T A T T Verified Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq 1 dbGAP Illumina HiSeq 0d3e1576-f0cd-4066-b6af-e3f96cac6d25 b983feb5-f7d5-4890-a57a-0ad7f94bacc2 X 135254814 135254814 T A SNP GPR112 NM_153834.3 human genbank 54_36p +1 validated missense c.1283 p.L428H 0.011 NULL HMMPfam_GPS,HMMSmart_GPS,HMMPfam_7tm_2,superfamily_ConA_like_lec_gl,PatternScan_G_PROTEIN_RECEP_F2_2 - no_errors 57 2 3.33 37 144 79.12 NA NA NA +PRAMEF2 0 genome.wustl.edu 37 1 12919997 12919997 + Missense_Mutation SNP C C T TCGA-AB-2849-03B-01W-0728-08 TCGA-AB-2849-11B-01W-0729-08 C C C T C C Verified Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq 1 dbGAP Illumina HiSeq 0d3e1576-f0cd-4066-b6af-e3f96cac6d25 b983feb5-f7d5-4890-a57a-0ad7f94bacc2 1 12842584 12842584 C T SNP PRAMEF2 NM_023014.1 human genbank 54_36p +1 provisional missense c.737 p.T246M 0.009 superfamily_SSF52047 superfamily_SSF52047 - no_errors 88 0 0.00 61 38 38.38 NA NA NA +PRAMEF16 0 genome.wustl.edu 37 1 13497875 13497875 + Missense_Mutation SNP C C T TCGA-AB-2849-03B-01W-0728-08 TCGA-AB-2849-11B-01W-0729-08 C C C T C C Verified Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq 1 dbGAP Illumina HiSeq 0d3e1576-f0cd-4066-b6af-e3f96cac6d25 b983feb5-f7d5-4890-a57a-0ad7f94bacc2 1 13370462 13370462 C T SNP PRAMEF16 NM_001045480.1 human genbank 54_36p +1 provisional missense c.1172 p.T391M 0.012 superfamily_SSF52047 superfamily_SSF52047 - no_errors 6 0 0.00 4 1 20.00 NA NA NA +SPEN 0 genome.wustl.edu 37 1 16260238 16260238 + Nonsense_Mutation SNP G G A TCGA-AB-2849-03B-01W-0728-08 TCGA-AB-2849-11B-01W-0729-08 G G G A G G Verified Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq 1 dbGAP Illumina HiSeq 0d3e1576-f0cd-4066-b6af-e3f96cac6d25 b983feb5-f7d5-4890-a57a-0ad7f94bacc2 1 16132825 16132825 G A SNP SPEN NM_015001.2 human genbank 54_36p +1 reviewed nonsense c.7503 p.W2501* 1.000 NULL HMMPfam_RRM_1,HMMSmart_RRM,HMMPfam_SPOC,superfamily_SPOC-like,superfamily_SSF54928 - no_errors 46 0 0.00 34 30 46.88 33 30 47.62 +THRAP3 0 genome.wustl.edu 37 1 36762236 36762236 + Missense_Mutation SNP G G A TCGA-AB-2849-03B-01W-0728-08 TCGA-AB-2849-11B-01W-0729-08 G G G A G G Verified Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq 1 dbGAP Illumina HiSeq 0d3e1576-f0cd-4066-b6af-e3f96cac6d25 b983feb5-f7d5-4890-a57a-0ad7f94bacc2 1 36534823 36534823 G A SNP THRAP3 NM_005119.3 human genbank 54_36p +1 validated missense c.2168 p.R723H 1.000 NULL NULL - no_errors 148 0 0.00 50 36 41.86 98 64 39.51 +GBP1 0 genome.wustl.edu 37 1 89520512 89520512 + Missense_Mutation SNP C C A TCGA-AB-2849-03B-01W-0728-08 TCGA-AB-2849-11B-01W-0729-08 C C C A C C Verified Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq 1 dbGAP Illumina HiSeq 0d3e1576-f0cd-4066-b6af-e3f96cac6d25 b983feb5-f7d5-4890-a57a-0ad7f94bacc2 1 89293100 89293100 C A SNP GBP1 NM_002053.2 human genbank 54_36p -1 validated missense c.1518 p.L506F 0.478 HMMPfam_GBP_C,superfamily_Interferon-induced guanylate-binding protein 1 (GBP1) C-terminal domain HMMPfam_GBP_C,HMMPfam_GBP,superfamily_Interferon-induced guanylate-binding protein 1 (GBP1) C-terminal domain,superfamily_P-loop containing nucleoside triphosphate hydrolases - no_errors 84 0 0.00 69 47 40.52 30 6 16.67 +NLRC4 0 genome.wustl.edu 37 2 32477645 32477645 + Silent SNP G G A TCGA-AB-2849-03B-01W-0728-08 TCGA-AB-2849-11B-01W-0729-08 G G G A G G Verified Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq 1 dbGAP Illumina HiSeq 0d3e1576-f0cd-4066-b6af-e3f96cac6d25 b983feb5-f7d5-4890-a57a-0ad7f94bacc2 2 32331149 32331149 G A SNP NLRC4 NM_021209.3 human genbank 54_36p -1 validated silent c.105 p.R35 0.000 HMMPfam_CARD,superfamily_DEATH domain HMMPfam_CARD,HMMPfam_NACHT,superfamily_DEATH domain,superfamily_RNI-like,superfamily_P-loop containing nucleoside triphosphate hydrolases - no_errors 49 0 0.00 75 59 44.03 2 0 0.00 +SNRNP200 0 genome.wustl.edu 37 2 96968974 96968974 + Missense_Mutation SNP A A G TCGA-AB-2849-03B-01W-0728-08 TCGA-AB-2849-11B-01W-0729-08 A A A G A A Verified Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq 1 dbGAP Illumina HiSeq 0d3e1576-f0cd-4066-b6af-e3f96cac6d25 b983feb5-f7d5-4890-a57a-0ad7f94bacc2 2 96332701 96332701 A G SNP SNRNP200 NM_014014.2 human genbank 54_36p -1 validated missense c.304 p.Y102H 1.000 NULL HMMPfam_Helicase_C,HMMSmart_SM00490,HMMPfam_Sec63,HMMPfam_DEAD,HMMSmart_SM00487,HMMSmart_SM00611,superfamily_P-loop containing nucleoside triphosphate hydrolases - no_errors 50 0 0.00 50 30 37.50 80 63 43.75 +CASP10 0 genome.wustl.edu 37 2 202060580 202060580 + Missense_Mutation SNP C C A TCGA-AB-2849-03B-01W-0728-08 TCGA-AB-2849-11B-01W-0729-08 C C C A C C Verified Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq 1 dbGAP Illumina HiSeq 0d3e1576-f0cd-4066-b6af-e3f96cac6d25 b983feb5-f7d5-4890-a57a-0ad7f94bacc2 2 201768825 201768825 C A SNP CASP10 NM_032977.4 human genbank 54_36p +1 reviewed missense c.593 p.T198K 0.002 NULL HMMPfam_DED,HMMSmart_DED,superfamily_DEATH_like,HMMPfam_Peptidase_C14,HMMSmart_CASc,PatternScan_CASPASE_HIS,PatternScan_CASPASE_CYS,superfamily_SSF52129 - no_errors 103 0 0.00 109 60 35.50 35 10 22.22 +LRRFIP1 0 genome.wustl.edu 37 2 238617188 238617188 + Missense_Mutation SNP C C T TCGA-AB-2849-03B-01W-0728-08 TCGA-AB-2849-11B-01W-0729-08 C C C T C C Verified Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq 1 dbGAP Illumina HiSeq 0d3e1576-f0cd-4066-b6af-e3f96cac6d25 b983feb5-f7d5-4890-a57a-0ad7f94bacc2 2 238281927 238281927 C T SNP LRRFIP1 NM_004735.1 human genbank 54_36p +1 validated missense c.68 p.A23V 1.000 HMMPfam_DUF2051 HMMPfam_DUF2051 - no_errors 25 0 0.00 18 11 37.93 4 8 66.67 +DCTD 0 genome.wustl.edu 37 4 183836708 183836708 + Missense_Mutation SNP G G A TCGA-AB-2849-03B-01W-0728-08 TCGA-AB-2849-11B-01W-0729-08 G G G A G G Verified Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq 1 dbGAP Illumina HiSeq 0d3e1576-f0cd-4066-b6af-e3f96cac6d25 b983feb5-f7d5-4890-a57a-0ad7f94bacc2 4 184073702 184073702 G A SNP DCTD NM_001012732.1 human genbank 54_36p -1 reviewed missense c.47 p.S16F 0.752 NULL HMMPfam_dCMP_cyt_deam_1,PatternScan_CYT_DCMP_DEAMINASES,superfamily_Cytidine_deaminase-like - no_errors 32 0 0.00 35 13 27.08 24 10 29.41 +TRIO 0 genome.wustl.edu 37 5 14287024 14287024 + Missense_Mutation SNP G G A TCGA-AB-2849-03B-01W-0728-08 TCGA-AB-2849-11B-01W-0729-08 G G G A G G Verified Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq 1 dbGAP Illumina HiSeq 0d3e1576-f0cd-4066-b6af-e3f96cac6d25 b983feb5-f7d5-4890-a57a-0ad7f94bacc2 5 14340024 14340024 G A SNP TRIO NM_007118.2 human genbank 54_36p +1 validated missense c.392 p.R131H 1.000 HMMSmart_SM00516,superfamily_CRAL/TRIO domain HMMPfam_RhoGEF,HMMSmart_SM00325,superfamily_DBL homology domain (DH-domain),HMMSmart_SM00219,HMMSmart_SM00516,superfamily_CRAL/TRIO domain,HMMPfam_SH3_1,HMMSmart_SM00326,superfamily_SH3-domain,HMMPfam_PH,HMMSmart_SM00233,HMMPfam_Spectrin,HMMSmart_SM00220,HMMSmart_SM00408,HMMSmart_SM00409,PatternScan_PROTEIN_KINASE_ST,superfamily_Protein kinase-like (PK-like),HMMPfam_I-set,HMMPfam_Pkinase,HMMSmart_SM00150,superfamily_Spectrin repeat,superfamily_Immunoglobulin,superfamily_PH domain-like - no_errors 76 1 1.30 76 36 31.58 1 0 0.00 +KDM3B 0 genome.wustl.edu 37 5 137729043 137729043 + Missense_Mutation SNP G G A TCGA-AB-2849-03B-01W-0728-08 TCGA-AB-2849-11B-01W-0729-08 G G G A G G Verified Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq 1 dbGAP Illumina HiSeq 0d3e1576-f0cd-4066-b6af-e3f96cac6d25 b983feb5-f7d5-4890-a57a-0ad7f94bacc2 5 137756942 137756942 G A SNP JMJD1B NM_016604.3 human genbank 54_36p +1 validated missense c.2813 p.R938H 1.000 NULL HMMSmart_SM00558,HMMPfam_JmjC,superfamily_Clavaminate synthase-like - no_errors 85 0 0.00 16 30 65.22 4 63 94.03 +PRPF4B 0 genome.wustl.edu 37 6 4049339 4049339 + Silent SNP T T C TCGA-AB-2849-03B-01W-0728-08 TCGA-AB-2849-11B-01W-0729-08 T T T C T T Verified Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq 1 dbGAP Illumina HiSeq 0d3e1576-f0cd-4066-b6af-e3f96cac6d25 b983feb5-f7d5-4890-a57a-0ad7f94bacc2 6 3994338 3994338 T C SNP PRPF4B NM_003913.4 human genbank 54_36p +1 reviewed silent c.2025 p.Y675 0.991 superfamily_Protein kinase-like (PK-like) HMMSmart_SM00219,HMMSmart_SM00220,PatternScan_PROTEIN_KINASE_ST,superfamily_Protein kinase-like (PK-like),HMMPfam_Pkinase - no_errors 79 0 0.00 78 32 29.09 11 24 68.57 +ZPBP 0 genome.wustl.edu 37 7 50022985 50022985 + Missense_Mutation SNP C C G TCGA-AB-2849-03B-01W-0728-08 TCGA-AB-2849-11B-01W-0729-08 C C C G C C Verified Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq 1 dbGAP Illumina HiSeq 0d3e1576-f0cd-4066-b6af-e3f96cac6d25 b983feb5-f7d5-4890-a57a-0ad7f94bacc2 7 49993531 49993531 C G SNP ZPBP NM_007009.1 human genbank 54_36p -1 provisional missense c.914 p.G305A 0.990 HMMPfam_Sp38 HMMPfam_Sp38 - no_errors 22 1 4.35 28 20 41.67 NA NA NA +NPM2 0 genome.wustl.edu 37 8 21894040 21894040 + Intron SNP G G A TCGA-AB-2849-03B-01W-0728-08 TCGA-AB-2849-11B-01W-0729-08 G G G A G G Verified Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq 1 dbGAP Illumina HiSeq 0d3e1576-f0cd-4066-b6af-e3f96cac6d25 b983feb5-f7d5-4890-a57a-0ad7f94bacc2 8 21949986 21949986 G A SNP NPM2 NM_182795.1 human genbank 54_36p +1 validated splice_region c.600+3 e7+3 0.958 - - - no_errors 57 0 0.00 20 6 23.08 2 1 33.33 +LOC643827 0 genome.wustl.edu 37 9 65635778 65635778 + Missense_Mutation SNP G G A TCGA-AB-2849-03B-01W-0728-08 TCGA-AB-2849-11B-01W-0729-08 G G G A G G Verified Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq 1 dbGAP Illumina HiSeq 0d3e1576-f0cd-4066-b6af-e3f96cac6d25 b983feb5-f7d5-4890-a57a-0ad7f94bacc2 9 65375598 65375598 G A SNP LOC643827 XM_001714537.1 human genbank 54_36p +1 model missense c.1946 p.G649E 1.000 superfamily_Concanavalin A-like lectins/glucanases,PatternScan_GLYCO_HORMONE_BETA_1 HMMSmart_SM00282,superfamily_Fibrinogen C-terminal domain-like,HMMPfam_EGF,HMMSmart_SM00181,superfamily_Concanavalin A-like lectins/glucanases,HMMPfam_Laminin_G_2,PatternScan_GLYCO_HORMONE_BETA_1 - no_errors 22 0 0.00 15 14 48.28 NA NA NA +KAT6B 0 genome.wustl.edu 37 10 76735895 76735895 + Missense_Mutation SNP C C G TCGA-AB-2849-03B-01W-0728-08 TCGA-AB-2849-11B-01W-0729-08 C C C G C C Verified Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq 1 dbGAP Illumina HiSeq 0d3e1576-f0cd-4066-b6af-e3f96cac6d25 b983feb5-f7d5-4890-a57a-0ad7f94bacc2 10 76405901 76405901 C G SNP MYST4 NM_012330.2 human genbank 54_36p +1 validated missense c.1800 p.H600Q 1.000 NULL HMMSmart_SM00249,HMMPfam_MOZ_SAS,HMMSmart_SM00526,superfamily_FYVE/PHD zinc finger,superfamily_Acyl-CoA N-acyltransferases (Nat),PatternScan_ZF_PHD_1,HMMPfam_PHD,superfamily_"Winged helix" DNA-binding domain - no_errors 46 0 0.00 58 34 36.96 12 13 52.00 +NAV2 0 genome.wustl.edu 37 11 20075635 20075635 + Silent SNP C C T TCGA-AB-2849-03B-01W-0728-08 TCGA-AB-2849-11B-01W-0729-08 C C C T C C Verified Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq 1 dbGAP Illumina HiSeq 0d3e1576-f0cd-4066-b6af-e3f96cac6d25 b983feb5-f7d5-4890-a57a-0ad7f94bacc2 11 20032211 20032211 C T SNP NAV2 NM_182964.1 human genbank 54_36p +1 validated silent c.4560 p.P1520 1.000 NULL HMMPfam_CH,HMMSmart_SM00033,HMMSmart_SM00382,superfamily_Calponin-homology domain CH-domain,superfamily_P-loop containing nucleoside triphosphate hydrolases - no_errors 116 1 0.85 52 27 34.18 1 2 66.67 +MED21 0 genome.wustl.edu 37 12 27179378 27179378 + Missense_Mutation SNP T T C TCGA-AB-2849-03B-01W-0728-08 TCGA-AB-2849-11B-01W-0729-08 T T T C T T Verified Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq 1 dbGAP Illumina HiSeq 0d3e1576-f0cd-4066-b6af-e3f96cac6d25 b983feb5-f7d5-4890-a57a-0ad7f94bacc2 12 27070645 27070645 T C SNP MED21 NM_004264.3 human genbank 54_36p +1 provisional missense c.68 p.I23T 1.000 NULL NULL - no_errors 59 0 0.00 112 53 32.12 9 8 47.06 +MYF6 0 genome.wustl.edu 37 12 81102640 81102640 + Silent SNP G G A TCGA-AB-2849-03B-01W-0728-08 TCGA-AB-2849-11B-01W-0729-08 G G G A G G Verified Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq 1 dbGAP Illumina HiSeq 0d3e1576-f0cd-4066-b6af-e3f96cac6d25 b983feb5-f7d5-4890-a57a-0ad7f94bacc2 12 79626771 79626771 G A SNP MYF6 NM_002469.1 human genbank 54_36p +1 provisional silent c.630 p.S210 0.004 NULL HMMPfam_HLH,HMMSmart_SM00353,HMMPfam_Basic,HMMSmart_SM00520,superfamily_HLH helix-loop-helix DNA-binding domain - no_errors 95 0 0.00 52 41 44.09 NA NA NA +RAB15 0 genome.wustl.edu 37 14 65417130 65417130 + Missense_Mutation SNP G G A TCGA-AB-2849-03B-01W-0728-08 TCGA-AB-2849-11B-01W-0729-08 G G G A G G Verified Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq 1 dbGAP Illumina HiSeq 0d3e1576-f0cd-4066-b6af-e3f96cac6d25 b983feb5-f7d5-4890-a57a-0ad7f94bacc2 14 64486883 64486883 G A SNP RAB15 NM_198686.2 human genbank 54_36p -1 validated missense c.458 p.T153M 0.997 NULL PatternScan_SIGMA54_INTERACT_1,HMMSmart_RAB,HMMPfam_Ras,superfamily_SSF52540 - no_errors 69 0 0.00 29 20 40.82 21 9 30.00 +DUOX1 0 genome.wustl.edu 37 15 45440166 45440166 + Silent SNP T T A TCGA-AB-2849-03B-01W-0728-08 TCGA-AB-2849-11B-01W-0729-08 T T T A T T Verified Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq 1 dbGAP Illumina HiSeq 0d3e1576-f0cd-4066-b6af-e3f96cac6d25 b983feb5-f7d5-4890-a57a-0ad7f94bacc2 15 43227458 43227458 T A SNP DUOX1 NM_017434.3 human genbank 54_36p +1 reviewed silent c.2613 p.I871 0.894 HMMSmart_SM00054,PatternScan_EF_HAND_1,HMMPfam_efhand,superfamily_EF-hand HMMPfam_An_peroxidase,HMMSmart_SM00054,superfamily_Heme-dependent peroxidases,HMMPfam_FAD_binding_8,HMMPfam_NAD_binding_6,HMMPfam_Ferric_reduct,superfamily_Riboflavin synthase domain-like,PatternScan_EF_HAND_1,HMMPfam_efhand,superfamily_EF-hand,superfamily_Ferredoxin reductase-like C-terminal NADP-linked domain - no_errors 62 0 0.00 52 38 42.22 0 2 100.00 +MEX3B 0 genome.wustl.edu 37 15 82336007 82336007 + Missense_Mutation SNP A A G TCGA-AB-2849-03B-01W-0728-08 TCGA-AB-2849-11B-01W-0729-08 A A A G A A Verified Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq 1 dbGAP Illumina HiSeq 0d3e1576-f0cd-4066-b6af-e3f96cac6d25 b983feb5-f7d5-4890-a57a-0ad7f94bacc2 15 80123062 80123062 A G SNP MEX3B NM_032246.3 human genbank 54_36p -1 provisional missense c.1204 p.S402P 0.078 NULL HMMSmart_SM00184,HMMSmart_SM00322,HMMPfam_KH_1,HMMPfam_zf-C3HC4,superfamily_Eukaryotic type KH-domain (KH-domain type I),superfamily_RING/U-box - no_errors 17 0 0.00 17 8 32.00 12 11 47.83 +MUC16 0 genome.wustl.edu 37 19 9088095 9088095 + Missense_Mutation SNP G G T TCGA-AB-2849-03B-01W-0728-08 TCGA-AB-2849-11B-01W-0729-08 G G G T G G Verified Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq 1 dbGAP Illumina HiSeq 0d3e1576-f0cd-4066-b6af-e3f96cac6d25 b983feb5-f7d5-4890-a57a-0ad7f94bacc2 19 8949095 8949095 G T SNP MUC16 NM_024690.2 human genbank 54_36p -1 validated missense c.3720 p.S1240R 0.000 NULL HMMPfam_SEA,HMMSmart_SM00200,PatternScan_ATPASE_ALPHA_BETA,superfamily_SEA domain - no_errors 135 1 0.74 188 125 39.94 NA NA NA +RBFOX2 0 genome.wustl.edu 37 22 36334905 36334905 + Missense_Mutation SNP C C T TCGA-AB-2849-03B-01W-0728-08 TCGA-AB-2849-11B-01W-0729-08 C C C T C C Verified Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq 1 dbGAP Illumina HiSeq 0d3e1576-f0cd-4066-b6af-e3f96cac6d25 b983feb5-f7d5-4890-a57a-0ad7f94bacc2 22 34664851 34664851 C T SNP RBM9 NM_001082578.2 human genbank 54_36p -1 reviewed missense c.227 p.R76Q 0.998 NULL HMMPfam_RRM_1,HMMSmart_RRM,superfamily_SSF54928 - no_errors 79 0 0.00 86 16 15.69 3 2 40.00 +MICALL1 0 genome.wustl.edu 37 22 38323713 38323713 + Silent SNP C C A TCGA-AB-2849-03B-01W-0728-08 TCGA-AB-2849-11B-01W-0729-08 C C C A C C Verified Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq 1 dbGAP Illumina HiSeq 0d3e1576-f0cd-4066-b6af-e3f96cac6d25 b983feb5-f7d5-4890-a57a-0ad7f94bacc2 22 36653659 36653659 C A SNP MICALL1 NM_033386.2 human genbank 54_36p +1 validated silent c.1761 p.G587 0.758 NULL HMMPfam_CH,HMMSmart_CH,HMMPfam_LIM,HMMSmart_LIM,PatternScan_LIM_DOMAIN_1,superfamily_Calponin-homology,superfamily_SSF57716 - no_errors 33 0 0.00 13 5 27.78 13 3 18.75 +DOCK8 0 genome.wustl.edu 37 9 434936 434937 + Frame_Shift_Ins INS - - T TCGA-AB-2849-03B-01W-0728-08 TCGA-AB-2849-11B-01W-0729-08 - - - T - - Verified Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq 1 dbGAP Illumina HiSeq 0d3e1576-f0cd-4066-b6af-e3f96cac6d25 b983feb5-f7d5-4890-a57a-0ad7f94bacc2 9 424936 424937 - T INS DOCK8 NM_203447.1 human genbank 54_36p +1 validated frame_shift_ins c.4836_4837 p.D1612fs 1.000:1.000 NULL HMMPfam_Ded_cyto - no_errors 48 0 0.00 42 13 23.64 21 0 0.00 +STAG2 0 genome.wustl.edu 37 X 123224615 123224615 + Splice_Site SNP G G A TCGA-AB-2850-03B-01W-0728-08 TCGA-AB-2850-11B-01W-0729-08 G G G A G G Verified Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq 1 dbGAP Illumina HiSeq f8ec36ae-f2fc-4b21-8ae9-facaa091e1ae 7823e450-4039-472e-8e4a-27d849a4350b X 123052296 123052296 G A SNP STAG2 ENST00000218089 human ensembl 58_37c +1 known splice_site c.3467+1 e29+1 1.000 - - - no_errors 124 2 1.59 79 72 47.37 NA NA NA +NOTCH1 0 genome.wustl.edu 37 9 139395132 139395132 + Missense_Mutation SNP C C T TCGA-AB-2850-03B-01W-0728-08 TCGA-AB-2850-11B-01W-0729-08 C C C T C C Verified Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq 1 dbGAP Illumina HiSeq f8ec36ae-f2fc-4b21-8ae9-facaa091e1ae 7823e450-4039-472e-8e4a-27d849a4350b 9 138514953 138514953 C T SNP NOTCH1 ENST00000277541 human ensembl 58_37c -1 known missense c.5806 p.A1936T 1.000 HMMPfam_Ank,HMMSmart_ANK,superfamily_ANK PatternScan_ASX_HYDROXYL,HMMPfam_Notch,HMMSmart_NL,superfamily_Notch_region,HMMSmart_EGF_CA,HMMPfam_Ank,HMMSmart_ANK,superfamily_ANK,HMMPfam_EGF,HMMSmart_EGF,HMMPfam_NOD,HMMPfam_NODP,PatternScan_EGF_1,PatternScan_EGF_2,HMMPfam_EGF_CA,PatternScan_EGF_CA,superfamily_SSF57196 - no_errors 282 2 0.70 133 116 46.22 NA NA NA +IDH2 0 genome.wustl.edu 37 15 90631934 90631934 + Missense_Mutation SNP C C T rs121913502 TCGA-AB-2850-03B-01W-0728-08 TCGA-AB-2850-11B-01W-0729-08 C C C T C C Verified Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq 1 dbGAP Illumina HiSeq f8ec36ae-f2fc-4b21-8ae9-facaa091e1ae 7823e450-4039-472e-8e4a-27d849a4350b 15 88432938 88432938 C T SNP IDH2 ENST00000330062 human ensembl 58_37c -1 known missense c.419 p.R140Q 1.000 HMMPfam_Iso_dh,superfamily_Isocitrate/Isopropylmalate dehydrogenase-like HMMPfam_Iso_dh,PatternScan_IDH_IMDH,superfamily_Isocitrate/Isopropylmalate dehydrogenase-like - no_errors 107 0 0.00 73 45 38.14 NA NA NA +KIF2B 0 genome.wustl.edu 37 17 51901323 51901323 + Missense_Mutation SNP C C T TCGA-AB-2850-03B-01W-0728-08 TCGA-AB-2850-11B-01W-0729-08 C C C T C C Verified Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq 1 dbGAP Illumina HiSeq f8ec36ae-f2fc-4b21-8ae9-facaa091e1ae 7823e450-4039-472e-8e4a-27d849a4350b 17 49256322 49256322 C T SNP KIF2B ENST00000268919 human ensembl 58_37c +1 known missense c.929 p.T310M 1.000 HMMPfam_Kinesin,HMMSmart_SM00129,superfamily_P-loop containing nucleoside triphosphate hydrolases HMMPfam_Kinesin,HMMSmart_SM00129,PatternScan_KINESIN_MOTOR_DOMAIN1,superfamily_P-loop containing nucleoside triphosphate hydrolases - no_errors 57 0 0.00 32 29 47.54 NA NA NA +SRSF2 0 genome.wustl.edu 37 17 74732936 74732959 + In_Frame_Del DEL GGCGGCTGTGGTGTGAGTCCGGGG GGCGGCTGTGGTGTGAGTCCGGGG - TCGA-AB-2850-03B-01W-0728-08 TCGA-AB-2850-11B-01W-0729-08 GGCGGCTGTGGTGTGAGTCCGGGG GGCGGCTGTGGTGTGAGTCCGGGG GGCGGCTGTGGTGTGAGTCCGGGG - GGCGGCTGTGGTGTGAGTCCGGGG GGCGGCTGTGGTGTGAGTCCGGGG Verified Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq 1 dbGAP Illumina HiSeq f8ec36ae-f2fc-4b21-8ae9-facaa091e1ae 7823e450-4039-472e-8e4a-27d849a4350b 17 72244531 72244554 GGCGGCTGTGGTGTGAGTCCGGGG - DEL SFRS2 ENST00000358156 human ensembl 58_37c -1 known in_frame_del c.307_284 p.PPDSHHSR95in_frame_del 0.998:0.999:1.000:1.000:1.000:1.000:1.000:1.000:1.000:1.000:1.000:1.000:1.000:1.000:1.000:1.000:1.000:1.000:0.999:0.217:0.326:0.310:0.137:0.989 superfamily_RNA-binding domain RBD HMMPfam_RRM_1,HMMSmart_SM00360,HMMSmart_SM00361,superfamily_RNA-binding domain RBD - no_errors NA NA NA NA NA NA NA NA NA +RUNX1 0 genome.wustl.edu 37 21 36164595 36164617 + Frame_Shift_Del DEL CGCGGCGGCGAGCGCTCGCCGCC CGCGGCGGCGAGCGCTCGCCGCC - TCGA-AB-2850-03B-01W-0728-08 TCGA-AB-2850-11B-01W-0729-08 CGCGGCGGCGAGCGCTCGCCGCC CGCGGCGGCGAGCGCTCGCCGCC CGCGGCGGCGAGCGCTCGCCGCC - CGCGGCGGCGAGCGCTCGCCGCC CGCGGCGGCGAGCGCTCGCCGCC Verified Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq 1 dbGAP Illumina HiSeq f8ec36ae-f2fc-4b21-8ae9-facaa091e1ae 7823e450-4039-472e-8e4a-27d849a4350b 21 35086465 35086487 CGCGGCGGCGAGCGCTCGCCGCC - DEL RUNX1 ENST00000300305 human ensembl 58_37c -1 known frame_shift_del c.1280_1258 p.G420fs 1.000:1.000:0.914:1.000:0.997:0.962:1.000:1.000:0.958:1.000:1.000:0.999:1.000:1.000:1.000:1.000:1.000:0.999:1.000:1.000:0.950:1.000:1.000 HMMPfam_RunxI superfamily_p53-like transcription factors,HMMPfam_Runt,HMMPfam_RunxI - no_errors NA NA NA NA NA NA NA NA NA +BUB1 0 genome.wustl.edu 37 2 111419303 111419303 + Missense_Mutation SNP G G A TCGA-AB-2851-03B-01W-0728-08 TCGA-AB-2851-11B-01W-0729-08 G G G A G G Verified Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq 1 dbGAP Illumina HiSeq 1c8aef61-92b6-4a35-9a7f-89f5acf8265e 3d4d70a0-64f8-49a8-bc2d-d34a239168b5 2 111135776 111135776 G A SNP BUB1 NM_004336.3 human genbank 54_36p -1 reviewed missense c.1073 p.A358V 0.000 NULL HMMSmart_SM00220,PatternScan_PROTEIN_KINASE_ST,superfamily_Protein kinase-like (PK-like),HMMPfam_Mad3_BUB1_I,HMMSmart_SM00777,PatternScan_PROTEIN_KINASE_ATP - no_errors 219 14 5.96 85 48 35.56 1 1 50.00 +TPRG1 0 genome.wustl.edu 37 3 189038554 189038554 + Missense_Mutation SNP T T C TCGA-AB-2851-03B-01W-0728-08 TCGA-AB-2851-11B-01W-0729-08 T T T C T T Verified Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq 1 dbGAP Illumina HiSeq 1c8aef61-92b6-4a35-9a7f-89f5acf8265e 3d4d70a0-64f8-49a8-bc2d-d34a239168b5 3 190521248 190521248 T C SNP TPRG1 NM_198485.3 human genbank 54_36p +1 validated missense c.773 p.I258T 1.000 NULL NULL - no_errors 133 10 6.99 109 104 48.83 1 0 0.00 +SULF1 0 genome.wustl.edu 37 8 70536212 70536212 + Missense_Mutation SNP C C T TCGA-AB-2851-03B-01W-0728-08 TCGA-AB-2851-11B-01W-0729-08 C C C T C C Verified Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq 1 dbGAP Illumina HiSeq 1c8aef61-92b6-4a35-9a7f-89f5acf8265e 3d4d70a0-64f8-49a8-bc2d-d34a239168b5 8 70698766 70698766 C T SNP SULF1 NM_015170.1 human genbank 54_36p +1 validated missense c.1630 p.R544C 1.000 superfamily_Alkaline_phosphatase_core HMMPfam_Sulfatase,PatternScan_SULFATASE_2,PatternScan_SULFATASE_1,superfamily_Alkaline_phosphatase_core - no_errors 47 2 4.08 57 38 40.00 NA NA NA +SMC3 0 genome.wustl.edu 37 10 112342356 112342356 + Nonsense_Mutation SNP A A T TCGA-AB-2851-03B-01W-0728-08 TCGA-AB-2851-11B-01W-0729-08 A A A T A A Verified Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq 1 dbGAP Illumina HiSeq 1c8aef61-92b6-4a35-9a7f-89f5acf8265e 3d4d70a0-64f8-49a8-bc2d-d34a239168b5 10 112332346 112332346 A T SNP SMC3 NM_005445.3 human genbank 54_36p +1 reviewed nonsense c.760 p.R254* 1.000 HMMPfam_SMC_N,superfamily_P-loop containing nucleoside triphosphate hydrolases HMMPfam_SMC_N,HMMPfam_SMC_hinge,superfamily_Smc hinge domain,PatternScan_ABC_TRANSPORTER_1,superfamily_P-loop containing nucleoside triphosphate hydrolases,superfamily_BAG domain - no_errors 49 5 9.26 63 41 39.42 39 4 9.30 +FLT3 0 genome.wustl.edu 37 13 28592642 28592642 + Missense_Mutation SNP C C A rs121913488 TCGA-AB-2851-03B-01W-0728-08 TCGA-AB-2851-11B-01W-0729-08 C C C A C C Verified Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq 1 dbGAP Illumina HiSeq 1c8aef61-92b6-4a35-9a7f-89f5acf8265e 3d4d70a0-64f8-49a8-bc2d-d34a239168b5 13 27490642 27490642 C A SNP FLT3 NM_004119.2 human genbank 54_36p -1 reviewed missense c.2503 p.D835Y 1.000 HMMPfam_Pkinase_Tyr,HMMSmart_TyrKc,superfamily_Kinase_like HMMPfam_Pkinase_Tyr,HMMSmart_TyrKc,PatternScan_RECEPTOR_TYR_KIN_III,PatternScan_PROTEIN_KINASE_TYR,superfamily_Kinase_like,HMMPfam_ig,PatternScan_PROTEIN_KINASE_ATP,superfamily_SSF48726 - no_errors 69 10 12.66 21 12 36.36 184 175 48.75 +RYR1 0 genome.wustl.edu 37 19 39039015 39039015 + Silent SNP C C T TCGA-AB-2851-03B-01W-0728-08 TCGA-AB-2851-11B-01W-0729-08 C C C T C C Verified Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq 1 dbGAP Illumina HiSeq 1c8aef61-92b6-4a35-9a7f-89f5acf8265e 3d4d70a0-64f8-49a8-bc2d-d34a239168b5 19 43730855 43730855 C T SNP RYR1 NM_000540.2 human genbank 54_36p +1 reviewed silent c.12237 p.Y4079 0.998 superfamily_EF-hand HMMPfam_RYDR_ITPR,HMMPfam_RyR,HMMPfam_MIR,superfamily_MIR domain (Pfam 02815),HMMPfam_SPRY,HMMPfam_Ion_trans,HMMPfam_RR_TM4-6,HMMPfam_RIH_assoc,HMMPfam_Ins145_P3_rec,HMMSmart_SM00472,HMMSmart_SM00449,superfamily_EF-hand - no_errors 177 15 7.81 29 25 46.30 NA NA NA +DNMT3A 0 genome.wustl.edu 37 2 25467030 25467030 + Frame_Shift_Del DEL C C - TCGA-AB-2851-03B-01W-0728-08 TCGA-AB-2851-11B-01W-0729-08 C C C - C C Verified Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq 1 dbGAP Illumina HiSeq 1c8aef61-92b6-4a35-9a7f-89f5acf8265e 3d4d70a0-64f8-49a8-bc2d-d34a239168b5 2 25320534 25320534 C - DEL DNMT3A NM_022552.3 human genbank 54_36p -1 reviewed frame_shift_del c.1845 p.E616fs 1.000 NULL HMMPfam_PWWP,HMMSmart_SM00293,HMMPfam_DNA_methylase,superfamily_FYVE/PHD zinc finger,PatternScan_C5_MTASE_1,superfamily_S-adenosyl-L-methionine-dependent methyltransferases,superfamily_Tudor/PWWP/MBT - no_errors 10 0 0.00 17 0 0.00 8 0 0.00 +U2AF2 0 genome.wustl.edu 37 19 56173905 56173906 + Frame_Shift_Ins INS - - G TCGA-AB-2851-03B-01W-0728-08 TCGA-AB-2851-11B-01W-0729-08 - - - G - - Verified Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq 1 dbGAP Illumina HiSeq 1c8aef61-92b6-4a35-9a7f-89f5acf8265e 3d4d70a0-64f8-49a8-bc2d-d34a239168b5 19 60865717 60865718 - G INS U2AF2 NM_007279.1 human genbank 54_36p +1 reviewed frame_shift_ins c.524_525 p.L178fs 0.997:0.995 HMMPfam_RRM_1,HMMSmart_SM00360,superfamily_RNA-binding domain RBD HMMPfam_RRM_1,HMMSmart_SM00360,superfamily_RNA-binding domain RBD - no_errors 12 0 0.00 6 3 33.33 46 0 0.00 +HSP90B3P 0 genome.wustl.edu 37 1 92108068 92108068 + Silent SNP C C T TCGA-AB-2853-03D-01W-0755-09 TCGA-AB-2853-11D-01W-0755-09 C C C T C C Verified Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq 1 dbGAP Illumina HiSeq 9e238bbc-61ba-4966-b30e-ba7ab1a5b11b a8e7b351-f635-4026-b352-8129f8caa837 1 91880656 91880656 C T SNP HSP90B3P ENST00000370405 human ensembl 54_36p +1 known silent c.225 p.C75 0.671 NULL superfamily_Ribosomal_S5_D2-typ_fold,HMMPfam_HSP90,superfamily_SSF110942 - no_errors 185 7 3.65 170 118 40.83 NA NA NA +DNMT3A 0 genome.wustl.edu 37 2 25457242 25457242 + Missense_Mutation SNP C C T TCGA-AB-2853-03D-01W-0755-09 TCGA-AB-2853-11D-01W-0755-09 C C C T C C Verified Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq 1 dbGAP Illumina HiSeq 9e238bbc-61ba-4966-b30e-ba7ab1a5b11b a8e7b351-f635-4026-b352-8129f8caa837 2 25310746 25310746 C T SNP DNMT3A NM_022552.3 human genbank 54_36p -1 reviewed missense c.2645 p.R882H 1.000 superfamily_S-adenosyl-L-methionine-dependent methyltransferases HMMPfam_PWWP,HMMSmart_SM00293,HMMPfam_DNA_methylase,superfamily_FYVE/PHD zinc finger,PatternScan_C5_MTASE_1,superfamily_S-adenosyl-L-methionine-dependent methyltransferases,superfamily_Tudor/PWWP/MBT - no_errors 98 7 6.67 62 44 41.12 34 39 53.42 +KLHL5 0 genome.wustl.edu 37 4 39114766 39114766 + Silent SNP G G A TCGA-AB-2853-03D-01W-0755-09 TCGA-AB-2853-11D-01W-0755-09 G G G A G G Verified Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq 1 dbGAP Illumina HiSeq 9e238bbc-61ba-4966-b30e-ba7ab1a5b11b a8e7b351-f635-4026-b352-8129f8caa837 4 38791161 38791161 G A SNP KLHL5 NM_015990.1 human genbank 54_36p +1 validated silent c.1953 p.T651 0.771 HMMPfam_Kelch_1,HMMSmart_SM00612,superfamily_Galactose oxidase central domain HMMSmart_SM00225,HMMPfam_Kelch_1,HMMSmart_SM00612,superfamily_Galactose oxidase central domain,superfamily_POZ domain,HMMPfam_BACK,HMMPfam_BTB - no_errors 66 5 7.04 51 24 32.00 17 14 45.16 +ANK2 0 genome.wustl.edu 37 4 114254323 114254323 + Missense_Mutation SNP C C A TCGA-AB-2853-03D-01W-0755-09 TCGA-AB-2853-11D-01W-0755-09 C C C A C C Verified Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq 1 dbGAP Illumina HiSeq 9e238bbc-61ba-4966-b30e-ba7ab1a5b11b a8e7b351-f635-4026-b352-8129f8caa837 4 114473772 114473772 C A SNP ANK2 NM_001148.1 human genbank 54_36p +1 reviewed missense c.3338 p.T1113N 0.998 NULL HMMPfam_Death,HMMSmart_DEATH,HMMPfam_ZU5,HMMPfam_Ank,HMMSmart_ANK,superfamily_ANK,superfamily_DEATH_like,PatternScan_ALDEHYDE_DEHYDR_GLU - no_errors 133 10 6.99 116 90 43.48 NA NA NA +SLCO6A1 0 genome.wustl.edu 37 5 101834477 101834477 + Silent SNP G G A TCGA-AB-2853-03D-01W-0755-09 TCGA-AB-2853-11D-01W-0755-09 G G G A G G Verified Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq 1 dbGAP Illumina HiSeq 9e238bbc-61ba-4966-b30e-ba7ab1a5b11b a8e7b351-f635-4026-b352-8129f8caa837 5 101862376 101862376 G A SNP SLCO6A1 NM_173488.3 human genbank 54_36p -1 validated silent c.72 p.A24 0.000 NULL HMMPfam_OATP,HMMPfam_Kazal_2,superfamily_MFS general substrate transporter,superfamily_Kazal-type serine protease inhibitors - no_errors 62 3 4.62 42 33 42.31 NA NA NA +SLC13A1 0 genome.wustl.edu 37 7 122755703 122755703 + Missense_Mutation SNP C C A TCGA-AB-2853-03D-01W-0755-09 TCGA-AB-2853-11D-01W-0755-09 C C C A C C Verified Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq 1 dbGAP Illumina HiSeq 9e238bbc-61ba-4966-b30e-ba7ab1a5b11b a8e7b351-f635-4026-b352-8129f8caa837 7 122542939 122542939 C A SNP SLC13A1 NM_022444.3 human genbank 54_36p -1 validated missense c.1657 p.A553S 1.000 HMMPfam_Na_sulph_symp HMMPfam_Na_sulph_symp,PatternScan_NA_SULFATE - no_errors 120 10 7.69 107 91 45.96 NA NA NA +AKR1CL1 0 genome.wustl.edu 37 10 5203906 5203906 + Silent SNP C C T TCGA-AB-2853-03D-01W-0755-09 TCGA-AB-2853-11D-01W-0755-09 C C C T C C Verified Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq 1 dbGAP Illumina HiSeq 9e238bbc-61ba-4966-b30e-ba7ab1a5b11b a8e7b351-f635-4026-b352-8129f8caa837 10 5193906 5193906 C T SNP AKR1CL1 NM_001007536.3 human genbank 54_36p -1 provisional silent c.291 p.L97 0.819 HMMPfam_Aldo_ket_red,superfamily_Aldo/ket_red HMMPfam_Aldo_ket_red,superfamily_Aldo/ket_red,PatternScan_ALDOKETO_REDUCTASE_1 - no_errors 105 8 7.08 113 113 49.56 0 0 0.00 +SMC3 0 genome.wustl.edu 37 10 112356174 112356174 + Missense_Mutation SNP G G C TCGA-AB-2853-03D-01W-0755-09 TCGA-AB-2853-11D-01W-0755-09 G G G C G G Verified Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq 1 dbGAP Illumina HiSeq 9e238bbc-61ba-4966-b30e-ba7ab1a5b11b a8e7b351-f635-4026-b352-8129f8caa837 10 112346164 112346164 G C SNP SMC3 NM_005445.3 human genbank 54_36p +1 reviewed missense c.1982 p.R661P 1.000 HMMPfam_SMC_N,superfamily_Smc hinge domain,superfamily_P-loop containing nucleoside triphosphate hydrolases HMMPfam_SMC_N,HMMPfam_SMC_hinge,superfamily_Smc hinge domain,PatternScan_ABC_TRANSPORTER_1,superfamily_P-loop containing nucleoside triphosphate hydrolases,superfamily_BAG domain - no_errors 56 4 6.67 38 50 56.18 78 68 46.58 +LOC440181 0 genome.wustl.edu 37 14 59294523 59294523 + RNA SNP C C T TCGA-AB-2853-03D-01W-0755-09 TCGA-AB-2853-11D-01W-0755-09 C C C T C C Verified Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq 1 dbGAP Illumina HiSeq 9e238bbc-61ba-4966-b30e-ba7ab1a5b11b a8e7b351-f635-4026-b352-8129f8caa837 14 58364276 58364276 C T SNP LOC440181 XR_017581.1 human genbank 54_36p -1 model rna NULL NULL 1.000 - - - pseudogene 128 15 10.49 116 94 44.55 NA NA NA +SPTLC2 0 genome.wustl.edu 37 14 78018487 78018487 + Missense_Mutation SNP T T C TCGA-AB-2853-03D-01W-0755-09 TCGA-AB-2853-11D-01W-0755-09 T T T C T T Verified Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq 1 dbGAP Illumina HiSeq 9e238bbc-61ba-4966-b30e-ba7ab1a5b11b a8e7b351-f635-4026-b352-8129f8caa837 14 77088240 77088240 T C SNP SPTLC2 NM_004863.2 human genbank 54_36p -1 validated missense c.1255 p.I419V 1.000 HMMPfam_Aminotran_1_2,superfamily_PyrdxlP-dep_Trfase_major PatternScan_AA_TRANSFER_CLASS_2,HMMPfam_Aminotran_1_2,superfamily_PyrdxlP-dep_Trfase_major - no_errors 120 9 6.98 121 101 44.89 38 146 78.92 +TANC2 0 genome.wustl.edu 37 17 61498206 61498206 + Silent SNP C C T TCGA-AB-2853-03D-01W-0755-09 TCGA-AB-2853-11D-01W-0755-09 C C C T C C Verified Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq 1 dbGAP Illumina HiSeq 9e238bbc-61ba-4966-b30e-ba7ab1a5b11b a8e7b351-f635-4026-b352-8129f8caa837 17 58851938 58851938 C T SNP TANC2 NM_025185.3 human genbank 54_36p +1 validated silent c.4863 p.A1621 0.891 NULL HMMPfam_TPR_1,HMMPfam_Ank,HMMSmart_SM00248,superfamily_Ankyrin repeat,HMMSmart_SM00028,superfamily_TPR-like,superfamily_P-loop containing nucleoside triphosphate hydrolases - no_errors 219 5 2.23 76 91 53.53 6 4 40.00 +NPM1 0 genome.wustl.edu 37 5 170837543 170837544 + Frame_Shift_Ins INS - - TCTG TCGA-AB-2853-03D-01W-0755-09 TCGA-AB-2853-11D-01W-0755-09 - - - TCTG - - Verified Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq 1 dbGAP Illumina HiSeq 9e238bbc-61ba-4966-b30e-ba7ab1a5b11b a8e7b351-f635-4026-b352-8129f8caa837 5 170770148 170770149 - TCTG INS NPM1 NM_002520.1 human genbank 54_36p +1 validated frame_shift_ins c.859_860 p.W288fs 1.000:1.000 NULL HMMPfam_Nucleoplasmin,superfamily_Nucleoplasmin-like core domain - no_errors NA NA NA NA NA NA NA NA NA +FLT3 0 genome.wustl.edu 37 13 28608268 28608269 + In_Frame_Ins INS - - TCTCTGAAATCAACGTAG TCGA-AB-2853-03D-01W-0755-09 TCGA-AB-2853-11D-01W-0755-09 - - - TCTCTGAAATCAACGTAG - - Verified Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq 1 dbGAP Illumina HiSeq 9e238bbc-61ba-4966-b30e-ba7ab1a5b11b a8e7b351-f635-4026-b352-8129f8caa837 13 27506268 27506269 - TCTCTGAAATCAACGTAG INS FLT3 NM_004119.2 human genbank 54_36p -1 reviewed in_frame_ins c.1788_1787 p.596in_frame_insDYVDFR 0.794:0.991 superfamily_Kinase_like HMMPfam_Pkinase_Tyr,HMMSmart_TyrKc,PatternScan_RECEPTOR_TYR_KIN_III,PatternScan_PROTEIN_KINASE_TYR,superfamily_Kinase_like,HMMPfam_ig,PatternScan_PROTEIN_KINASE_ATP,superfamily_SSF48726 - no_errors NA NA NA NA NA NA NA NA NA +VPS13D 0 genome.wustl.edu 37 1 12460296 12460296 + Missense_Mutation SNP G G A TCGA-AB-2854-03B-01W-0728-08 TCGA-AB-2854-11B-01W-0729-08 G G G A G G Verified Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq 1 dbGAP Illumina HiSeq 4b019998-e435-4144-84eb-f8ca8c8b0a25 a5982d14-b13d-4a1a-b791-4d50ad91651d 1 12382883 12382883 G A SNP VPS13D NM_015378.2 human genbank 54_36p +1 reviewed missense c.11693 p.S3898N 0.996 NULL HMMPfam_UBA,superfamily_UBA-like,HMMPfam_DUF1162,HMMSmart_SM00165 - no_errors 160 2 1.22 39 11 22.00 13 4 23.53 +PSME4 0 genome.wustl.edu 37 2 54115909 54115909 + Missense_Mutation SNP A A C TCGA-AB-2854-03B-01W-0728-08 TCGA-AB-2854-11B-01W-0729-08 A A A C A A Verified Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq 1 dbGAP Illumina HiSeq 4b019998-e435-4144-84eb-f8ca8c8b0a25 a5982d14-b13d-4a1a-b791-4d50ad91651d 2 53969413 53969413 A C SNP PSME4 NM_014614.2 human genbank 54_36p -1 validated missense c.3995 p.L1332R 1.000 superfamily_ARM repeat HMMPfam_HEAT,superfamily_ARM repeat - no_errors 71 0 0.00 60 25 29.41 60 15 20.00 +FRYL 0 genome.wustl.edu 37 4 48567709 48567709 + Splice_Site SNP C C T TCGA-AB-2854-03B-01W-0728-08 TCGA-AB-2854-11B-01W-0729-08 C C C T C C Verified Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq 1 dbGAP Illumina HiSeq 4b019998-e435-4144-84eb-f8ca8c8b0a25 a5982d14-b13d-4a1a-b791-4d50ad91651d 4 48262466 48262466 C T SNP FRYL NM_015030.1 human genbank 54_36p -1 validated splice_site c.3170-1 e26-1 1.000 - - - no_errors 57 0 0.00 48 14 22.58 4 0 0.00 +HEATR7B2 0 genome.wustl.edu 37 5 41058297 41058297 + Missense_Mutation SNP G G T TCGA-AB-2854-03B-01W-0728-08 TCGA-AB-2854-11B-01W-0729-08 G G G T G G Verified Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq 1 dbGAP Illumina HiSeq 4b019998-e435-4144-84eb-f8ca8c8b0a25 a5982d14-b13d-4a1a-b791-4d50ad91651d 5 41094054 41094054 G T SNP HEATR7B2 NM_173489.4 human genbank 54_36p -1 validated missense c.624 p.S208R 0.001 NULL superfamily_ARM repeat - no_errors 385 4 1.02 60 18 23.08 NA NA NA +PCDHB16 0 genome.wustl.edu 37 5 140563348 140563348 + Missense_Mutation SNP C C T TCGA-AB-2854-03B-01W-0728-08 TCGA-AB-2854-11B-01W-0729-08 C C C T C C Verified Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq 1 dbGAP Illumina HiSeq 4b019998-e435-4144-84eb-f8ca8c8b0a25 a5982d14-b13d-4a1a-b791-4d50ad91651d 5 140543532 140543532 C T SNP PCDHB16 NM_020957.1 human genbank 54_36p +1 reviewed missense c.1214 p.T405M 0.301 HMMPfam_Cadherin,HMMSmart_CA,superfamily_Cadherin HMMPfam_Cadherin,HMMSmart_CA,PatternScan_CADHERIN_1,HMMPfam_Cadherin_2,superfamily_Cadherin - no_errors 47 0 0.00 18 4 18.18 NA NA NA +ADRA1A 0 genome.wustl.edu 37 8 26627861 26627861 + Silent SNP G G A TCGA-AB-2854-03B-01W-0728-08 TCGA-AB-2854-11B-01W-0729-08 G G G A G G Verified Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq 1 dbGAP Illumina HiSeq 4b019998-e435-4144-84eb-f8ca8c8b0a25 a5982d14-b13d-4a1a-b791-4d50ad91651d 8 26683778 26683778 G A SNP ADRA1A NM_033303.2 human genbank 54_36p -1 reviewed silent c.1206 p.S402 0.173 NULL HMMPfam_7tm_1,PatternScan_G_PROTEIN_RECEP_F1_1,superfamily_SSF81321 - no_errors 280 1 0.35 53 20 27.03 NA NA NA +TFAM 0 genome.wustl.edu 37 10 60154791 60154791 + Missense_Mutation SNP G G A TCGA-AB-2854-03B-01W-0728-08 TCGA-AB-2854-11B-01W-0729-08 G G G A G G Verified Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq 1 dbGAP Illumina HiSeq 4b019998-e435-4144-84eb-f8ca8c8b0a25 a5982d14-b13d-4a1a-b791-4d50ad91651d 10 59824797 59824797 G A SNP TFAM NM_003201.1 human genbank 54_36p +1 provisional missense c.698 p.R233H 0.053 superfamily_HMG-box HMMPfam_HMG_box,HMMSmart_SM00398,superfamily_HMG-box - no_errors 93 0 0.00 28 16 36.36 26 6 18.75 +BUB3 0 genome.wustl.edu 37 10 124921780 124921780 + Missense_Mutation SNP G G T TCGA-AB-2854-03B-01W-0728-08 TCGA-AB-2854-11B-01W-0729-08 G G G T G G Verified Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq 1 dbGAP Illumina HiSeq 4b019998-e435-4144-84eb-f8ca8c8b0a25 a5982d14-b13d-4a1a-b791-4d50ad91651d 10 124911770 124911770 G T SNP BUB3 NM_004725.2 human genbank 54_36p +1 reviewed missense c.605 p.R202L 1.000 superfamily_WD40 repeat-like HMMSmart_SM00320,superfamily_WD40 repeat-like,HMMPfam_WD40 - no_errors 102 0 0.00 39 7 15.22 103 39 27.46 +ELF5 0 genome.wustl.edu 37 11 34515066 34515066 + Silent SNP G G A TCGA-AB-2854-03B-01W-0728-08 TCGA-AB-2854-11B-01W-0729-08 G G G A G G Verified Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq 1 dbGAP Illumina HiSeq 4b019998-e435-4144-84eb-f8ca8c8b0a25 a5982d14-b13d-4a1a-b791-4d50ad91651d 11 34471642 34471642 G A SNP ELF5 NM_198381.2 human genbank 54_36p -1 reviewed silent c.345 p.G115 0.979 HMMPfam_SAM_PNT,HMMSmart_SM00251,superfamily_SAM/Pointed domain HMMPfam_Ets,HMMSmart_SM00413,PatternScan_ETS_DOMAIN_2,HMMPfam_SAM_PNT,HMMSmart_SM00251,superfamily_SAM/Pointed domain,superfamily_"Winged helix" DNA-binding domain - no_errors 125 2 1.56 24 6 20.00 NA NA NA +HERC2P4 0 genome.wustl.edu 37 16 32163566 32163566 + RNA SNP G G A TCGA-AB-2854-03B-01W-0728-08 TCGA-AB-2854-11B-01W-0729-08 G G G A G G Verified Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq 1 dbGAP Illumina HiSeq 4b019998-e435-4144-84eb-f8ca8c8b0a25 a5982d14-b13d-4a1a-b791-4d50ad91651d 16 32071067 32071067 G A SNP HERC2P4 NR_002827.1 human genbank 54_36p -1 provisional rna NULL NULL 0.793 - - - pseudogene 181 1 0.55 24 4 14.29 0 0 0.00 +ADAM11 0 genome.wustl.edu 37 17 42855399 42855399 + Missense_Mutation SNP C C A TCGA-AB-2854-03B-01W-0728-08 TCGA-AB-2854-11B-01W-0729-08 C C C A C C Verified Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq 1 dbGAP Illumina HiSeq 4b019998-e435-4144-84eb-f8ca8c8b0a25 a5982d14-b13d-4a1a-b791-4d50ad91651d 17 40210925 40210925 C A SNP ADAM11 NM_002390.4 human genbank 54_36p +1 reviewed missense c.2150 p.T717K 0.071 NULL HMMPfam_Reprolysin,HMMPfam_Disintegrin,HMMSmart_SM00050,superfamily_Blood coagulation inhibitor (disintegrin),HMMPfam_Pep_M12B_propep,HMMPfam_ADAM_CR,HMMSmart_SM00608,PatternScan_EGF_1,HMMPfam_EGF_2,PatternScan_DISINTEGRIN_1,superfamily_Metalloproteases ("zincins") catalytic domain,superfamily_EGF/Laminin - no_errors 124 0 0.00 14 7 33.33 NA NA NA +MGAT5B 0 genome.wustl.edu 37 17 74934142 74934142 + Missense_Mutation SNP C C T TCGA-AB-2854-03B-01W-0728-08 TCGA-AB-2854-11B-01W-0729-08 C C C T C C Verified Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq 1 dbGAP Illumina HiSeq 4b019998-e435-4144-84eb-f8ca8c8b0a25 a5982d14-b13d-4a1a-b791-4d50ad91651d 17 72445737 72445737 C T SNP MGAT5B NM_198955.2 human genbank 54_36p +1 validated missense c.1528 p.R510W 1.000 NULL NULL - no_errors 294 0 0.00 34 7 17.07 NA NA NA +SAGE1 0 genome.wustl.edu 37 X 134989144 134989144 + Missense_Mutation SNP G G A TCGA-AB-2855-03B-01W-0728-08 TCGA-AB-2855-11B-01W-0729-08 G G G A G G Verified Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq 1 dbGAP Illumina HiSeq 8bdab9f4-ca3d-4f77-b83e-6ec7df6c2a27 56552b20-8a32-4584-a3dc-91cc0e4196f4 X 134816810 134816810 G A SNP SAGE1 NM_018666.2 human genbank 54_36p +1 reviewed missense c.796 p.D266N 0.516 NULL NULL - no_errors 105 22 17.32 7 75 90.36 0 0 0.00 +LOC727882 0 genome.wustl.edu 37 1 17829 17829 + RNA SNP G G A TCGA-AB-2855-03B-01W-0728-08 TCGA-AB-2855-11B-01W-0729-08 G G G A G G Verified Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq 1 dbGAP Illumina HiSeq 8bdab9f4-ca3d-4f77-b83e-6ec7df6c2a27 56552b20-8a32-4584-a3dc-91cc0e4196f4 1 7692 7692 G A SNP LOC727882 XR_015152.2 human genbank 54_36p +1 model rna NULL NULL 0.043 - - - pseudogene 0 0 0.00 0 0 0.00 1 0 0.00 +ANKRD18A 0 genome.wustl.edu 37 9 38615714 38615714 + Silent SNP G G A TCGA-AB-2855-03B-01W-0728-08 TCGA-AB-2855-11B-01W-0729-08 G G G A G G Verified Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq 1 dbGAP Illumina HiSeq 8bdab9f4-ca3d-4f77-b83e-6ec7df6c2a27 56552b20-8a32-4584-a3dc-91cc0e4196f4 9 38605714 38605714 G A SNP ANKRD18A XM_001726105.1 human genbank 54_36p -1 model silent c.372 p.G124 0.950 HMMPfam_Ank,HMMSmart_SM00248,superfamily_Ankyrin repeat HMMPfam_Ank,HMMSmart_SM00248,superfamily_Ankyrin repeat - no_errors 25 2 7.41 60 53 46.90 NA NA NA +TET1 0 genome.wustl.edu 37 10 70450649 70450649 + Missense_Mutation SNP C C T TCGA-AB-2855-03B-01W-0728-08 TCGA-AB-2855-11B-01W-0729-08 C C C T C C Verified Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq 1 dbGAP Illumina HiSeq 8bdab9f4-ca3d-4f77-b83e-6ec7df6c2a27 56552b20-8a32-4584-a3dc-91cc0e4196f4 10 70120655 70120655 C T SNP TET1 NM_030625.2 human genbank 54_36p +1 validated missense c.5489 p.T1830I 0.944 NULL HMMPfam_zf-CXXC - no_errors 79 16 16.67 87 65 42.21 6 5 45.45 +PTPN11 0 genome.wustl.edu 37 12 112926852 112926852 + Missense_Mutation SNP C C T TCGA-AB-2855-03B-01W-0728-08 TCGA-AB-2855-11B-01W-0729-08 C C C T C C Verified Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq 1 dbGAP Illumina HiSeq 8bdab9f4-ca3d-4f77-b83e-6ec7df6c2a27 56552b20-8a32-4584-a3dc-91cc0e4196f4 12 111411235 111411235 C T SNP PTPN11 NM_002834.3 human genbank 54_36p +1 reviewed missense c.1472 p.P491L 1.000 HMMPfam_Y_phosphatase,HMMSmart_SM00194,HMMSmart_SM00404,superfamily_(Phosphotyrosine protein) phosphatases II HMMPfam_Y_phosphatase,HMMSmart_SM00194,HMMPfam_SH2,HMMSmart_SM00252,HMMSmart_SM00404,PatternScan_TYR_PHOSPHATASE_1,superfamily_(Phosphotyrosine protein) phosphatases II,superfamily_SH2 domain - no_errors 261 34 11.49 333 341 50.00 13 17 56.67 +PHF6 0 genome.wustl.edu 37 X 133547903 133547904 + Frame_Shift_Ins INS - - GGATA TCGA-AB-2855-03B-01W-0728-08 TCGA-AB-2855-11B-01W-0729-08 - - - GGATA - - Verified Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq 1 dbGAP Illumina HiSeq 8bdab9f4-ca3d-4f77-b83e-6ec7df6c2a27 56552b20-8a32-4584-a3dc-91cc0e4196f4 X 133375569 133375570 - GGATA INS PHF6 NM_001015877.1 human genbank 54_36p +1 reviewed frame_shift_ins c.636_637 p.F213fs 1.000:1.000 NULL HMMSmart_SM00249,superfamily_FYVE/PHD zinc finger - no_errors NA NA NA NA NA NA NA NA NA +SCN1A 0 genome.wustl.edu 37 2 166903315 166903315 + Missense_Mutation SNP T T C TCGA-AB-2857-03B-01W-0728-08 TCGA-AB-2857-11B-01W-0729-08 T T T C T T Verified Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq 1 dbGAP Illumina HiSeq 44964375-c1fd-44e2-a9a1-e1adfb712b91 b03885b4-e42c-4126-a847-29b1eda5f527 2 166611561 166611561 T C SNP SCN1A NM_006920.4 human genbank 54_36p -1 validated missense c.1342 p.I448V 1.000 NULL HMMPfam_IQ,HMMSmart_IQ,HMMPfam_Ion_trans,HMMPfam_Na_trans_assoc,PatternScan_RIBONUCLEASE_P,superfamily_SSF81324 - no_errors 231 3 1.28 85 43 33.33 NA NA NA +DOCK10 0 genome.wustl.edu 37 2 225717836 225717836 + Missense_Mutation SNP C C T TCGA-AB-2857-03B-01W-0728-08 TCGA-AB-2857-11B-01W-0729-08 C C C T C C Verified Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq 1 dbGAP Illumina HiSeq 44964375-c1fd-44e2-a9a1-e1adfb712b91 b03885b4-e42c-4126-a847-29b1eda5f527 2 225426080 225426080 C T SNP DOCK10 NM_014689.2 human genbank 54_36p -1 validated missense c.1892 p.C631Y 1.000 NULL HMMPfam_PH,HMMSmart_SM00233,HMMPfam_Ded_cyto,superfamily_PH domain-like - no_errors 253 0 0.00 181 81 30.34 26 8 23.53 +COL25A1 0 genome.wustl.edu 37 4 109820309 109820309 + Splice_Site SNP C C T TCGA-AB-2857-03B-01W-0728-08 TCGA-AB-2857-11B-01W-0729-08 C C C T C C Verified Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq 1 dbGAP Illumina HiSeq 44964375-c1fd-44e2-a9a1-e1adfb712b91 b03885b4-e42c-4126-a847-29b1eda5f527 4 110039758 110039758 C T SNP COL25A1 NM_198721.2 human genbank 54_36p -1 validated splice_site c.861+1 e14+1 0.998 - - - no_errors 288 1 0.35 137 56 28.72 NA NA NA +LOC100128744 0 genome.wustl.edu 37 7 136849187 136849187 + Missense_Mutation SNP C C T TCGA-AB-2857-03B-01W-0728-08 TCGA-AB-2857-11B-01W-0729-08 C C C T C C Verified Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq 1 dbGAP Illumina HiSeq 44964375-c1fd-44e2-a9a1-e1adfb712b91 b03885b4-e42c-4126-a847-29b1eda5f527 7 136499727 136499727 C T SNP LOC100128744 XM_001718911.1 human genbank 54_36p +1 model missense c.1061 p.P354L 0.999 HMMPfam_Ribosomal_L18e,superfamily_Ribosomal proteins L15p and L18e HMMPfam_Ribosomal_L18e,superfamily_Ribosomal proteins L15p and L18e - no_errors 56 0 0.00 36 25 40.32 NA NA NA +CSMD3 0 genome.wustl.edu 37 8 113678593 113678593 + Missense_Mutation SNP C C T TCGA-AB-2857-03B-01W-0728-08 TCGA-AB-2857-11B-01W-0729-08 C C C T C C Verified Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq 1 dbGAP Illumina HiSeq 44964375-c1fd-44e2-a9a1-e1adfb712b91 b03885b4-e42c-4126-a847-29b1eda5f527 8 113747769 113747769 C T SNP CSMD3 NM_198123.2 human genbank 54_36p -1 validated missense c.2729 p.G910E 1.000 HMMPfam_CUB,HMMSmart_SM00042,superfamily_Spermadhesin CUB domain HMMPfam_Sushi,HMMSmart_SM00032,HMMPfam_CUB,HMMSmart_SM00042,superfamily_Spermadhesin CUB domain,PatternScan_GLYCOSYL_HYDROL_F10,superfamily_Complement control module/SCR domain - no_errors 181 0 0.00 98 56 36.13 NA NA NA +JMJD1C 0 genome.wustl.edu 37 10 64967168 64967168 + Missense_Mutation SNP A A G TCGA-AB-2857-03B-01W-0728-08 TCGA-AB-2857-11B-01W-0729-08 A A A G A A Verified Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq 1 dbGAP Illumina HiSeq 44964375-c1fd-44e2-a9a1-e1adfb712b91 b03885b4-e42c-4126-a847-29b1eda5f527 10 64637174 64637174 A G SNP JMJD1C NM_032776.2 human genbank 54_36p -1 validated missense c.4261 p.S1421P 1.000 NULL HMMSmart_SM00558,HMMPfam_JmjC,superfamily_Clavaminate synthase-like - no_errors 164 0 0.00 76 31 28.70 40 27 40.30 +LRIT1 0 genome.wustl.edu 37 10 85994070 85994070 + Silent SNP G G A TCGA-AB-2857-03B-01W-0728-08 TCGA-AB-2857-11B-01W-0729-08 G G G A G G Verified Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq 1 dbGAP Illumina HiSeq 44964375-c1fd-44e2-a9a1-e1adfb712b91 b03885b4-e42c-4126-a847-29b1eda5f527 10 85984050 85984050 G A SNP LRIT1 NM_015613.2 human genbank 54_36p -1 validated silent c.654 p.G218 0.078 HMMSmart_LRRCT,superfamily_SSF52058 HMMSmart_LRRNT,HMMSmart_LRRCT,HMMPfam_LRR_1,HMMSmart_LRR_TYP,HMMSmart_IGc2,HMMPfam_fn3,HMMSmart_FN3,superfamily_FN_III-like,HMMPfam_ig,superfamily_SSF48726,superfamily_SSF52058 - no_errors 21 0 0.00 44 24 34.78 NA NA NA +MICAL2 0 genome.wustl.edu 37 11 12247813 12247813 + Missense_Mutation SNP C C G TCGA-AB-2857-03B-01W-0728-08 TCGA-AB-2857-11B-01W-0729-08 C C C G C C Verified Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq 1 dbGAP Illumina HiSeq 44964375-c1fd-44e2-a9a1-e1adfb712b91 b03885b4-e42c-4126-a847-29b1eda5f527 11 12204389 12204389 C G SNP MICAL2 NM_014632.2 human genbank 54_36p +1 provisional missense c.1784 p.T595R 0.995 HMMPfam_CH,HMMSmart_SM00033,superfamily_Calponin-homology domain CH-domain HMMPfam_CH,HMMSmart_SM00033,HMMPfam_LIM,HMMSmart_SM00132,PatternScan_LIM_DOMAIN_1,HMMPfam_FAD_binding_3,superfamily_Calponin-homology domain CH-domain,superfamily_FAD/NAD(P)-binding domain,superfamily_Glucocorticoid receptor-like (DNA-binding domain) - no_errors 215 0 0.00 72 20 21.51 28 16 36.36 +KRT75 0 genome.wustl.edu 37 12 52827852 52827852 + Silent SNP G G A TCGA-AB-2857-03B-01W-0728-08 TCGA-AB-2857-11B-01W-0729-08 G G G A G G Verified Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq 1 dbGAP Illumina HiSeq 44964375-c1fd-44e2-a9a1-e1adfb712b91 b03885b4-e42c-4126-a847-29b1eda5f527 12 51114119 51114119 G A SNP KRT75 NM_004693.2 human genbank 54_36p -1 reviewed silent c.237 p.S79 0.002 NULL superfamily_Prefoldin,HMMPfam_Filament,PatternScan_IF - no_errors 111 0 0.00 63 21 25.00 NA NA NA +MMP25 0 genome.wustl.edu 37 16 3100421 3100421 + Missense_Mutation SNP C C T TCGA-AB-2857-03B-01W-0728-08 TCGA-AB-2857-11B-01W-0729-08 C C C T C C Verified Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq 1 dbGAP Illumina HiSeq 44964375-c1fd-44e2-a9a1-e1adfb712b91 b03885b4-e42c-4126-a847-29b1eda5f527 16 3040422 3040422 C T SNP MMP25 NM_022468.4 human genbank 54_36p +1 reviewed missense c.535 p.H179Y 0.993 HMMPfam_Peptidase_M10,HMMSmart_ZnMc,superfamily_SSF55486 superfamily_Hemopexin,HMMPfam_Peptidase_M10,PatternScan_CYSTEINE_SWITCH,HMMPfam_PG_binding_1,superfamily_PGBD_like,PatternScan_ZINC_PROTEASE,HMMSmart_ZnMc,PatternScan_HEMOPEXIN,HMMPfam_Hemopexin,HMMSmart_HX,superfamily_SSF55486 - no_errors 122 1 0.81 28 11 27.50 10 3 23.08 +CDH16 0 genome.wustl.edu 37 16 66945811 66945811 + Missense_Mutation SNP C C T TCGA-AB-2857-03B-01W-0728-08 TCGA-AB-2857-11B-01W-0729-08 C C C T C C Verified Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq 1 dbGAP Illumina HiSeq 44964375-c1fd-44e2-a9a1-e1adfb712b91 b03885b4-e42c-4126-a847-29b1eda5f527 16 65503312 65503312 C T SNP CDH16 NM_004062.2 human genbank 54_36p -1 reviewed missense c.1781 p.R594Q 0.023 HMMPfam_Cadherin,HMMSmart_SM00112,superfamily_Cadherin-like HMMPfam_Cadherin,HMMSmart_SM00112,PatternScan_CADHERIN_1,superfamily_Cadherin-like - no_errors 426 2 0.47 56 10 15.15 1 0 0.00 +TP53 0 genome.wustl.edu 37 17 7590694 7590694 + Splice_Site SNP C C T TCGA-AB-2857-03B-01W-0728-08 TCGA-AB-2857-11B-01W-0729-08 C C C T C C Verified Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq 1 dbGAP Illumina HiSeq 44964375-c1fd-44e2-a9a1-e1adfb712b91 b03885b4-e42c-4126-a847-29b1eda5f527 17 7531419 7531419 C T SNP TP53 NM_000546.4 human genbank 54_36p -1 reviewed splice_site c.1+1 e0+1 0.966 - - - no_errors 57 0 0.00 17 20 54.05 0 0 0.00 +COX10 0 genome.wustl.edu 37 17 14110287 14110287 + Silent SNP C C T TCGA-AB-2857-03B-01W-0728-08 TCGA-AB-2857-11B-01W-0729-08 C C C T C C Verified Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq 1 dbGAP Illumina HiSeq 44964375-c1fd-44e2-a9a1-e1adfb712b91 b03885b4-e42c-4126-a847-29b1eda5f527 17 14051012 14051012 C T SNP COX10 NM_001303.3 human genbank 54_36p +1 reviewed silent c.1089 p.A363 0.993 HMMPfam_UbiA HMMPfam_UbiA,PatternScan_UBIA - no_errors 42 0 0.00 20 16 44.44 4 6 60.00 +KRT37 0 genome.wustl.edu 37 17 39577726 39577726 + Silent SNP G G A TCGA-AB-2857-03B-01W-0728-08 TCGA-AB-2857-11B-01W-0729-08 G G G A G G Verified Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq 1 dbGAP Illumina HiSeq 44964375-c1fd-44e2-a9a1-e1adfb712b91 b03885b4-e42c-4126-a847-29b1eda5f527 17 36831252 36831252 G A SNP KRT37 NM_003770.4 human genbank 54_36p -1 reviewed silent c.1134 p.A378 0.997 HMMPfam_Filament HMMPfam_Filament,PatternScan_IF - no_errors 105 0 0.00 147 22 12.94 NA NA NA +ZNF473 0 genome.wustl.edu 37 19 50549971 50549971 + Silent SNP T T G TCGA-AB-2857-03B-01W-0728-08 TCGA-AB-2857-11B-01W-0729-08 T T T G T T Verified Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq 1 dbGAP Illumina HiSeq 44964375-c1fd-44e2-a9a1-e1adfb712b91 b03885b4-e42c-4126-a847-29b1eda5f527 19 55241783 55241783 T G SNP ZNF473 NM_001006656.1 human genbank 54_36p +1 validated silent c.2271 p.P757 0.001 superfamily_C2H2 and C2HC zinc fingers HMMPfam_KRAB,HMMSmart_SM00349,superfamily_KRAB domain (Kruppel-associated box Pfam 01352),HMMPfam_zf-C2H2,PatternScan_ZINC_FINGER_C2H2_1,HMMSmart_SM00355,superfamily_C2H2 and C2HC zinc fingers - no_errors 483 0 0.00 142 33 18.86 10 10 50.00 +BACH1 0 genome.wustl.edu 37 21 30714966 30714966 + Silent SNP C C A TCGA-AB-2857-03B-01W-0728-08 TCGA-AB-2857-11B-01W-0729-08 C C C A C C Verified Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq 1 dbGAP Illumina HiSeq 44964375-c1fd-44e2-a9a1-e1adfb712b91 b03885b4-e42c-4126-a847-29b1eda5f527 21 29636837 29636837 C A SNP BACH1 NM_001186.1 human genbank 54_36p +1 reviewed silent c.2023 p.R675 0.016 NULL HMMSmart_SM00225,HMMSmart_SM00338,PatternScan_BZIP_BASIC,superfamily_A DNA-binding domain in eukaryotic transcription factors,superfamily_POZ domain,HMMPfam_bZIP_1,HMMPfam_BTB - no_errors 90 0 0.00 104 49 31.61 20 15 42.86 +SMC1A 0 genome.wustl.edu 37 X 53409232 53409232 + Missense_Mutation SNP T T C TCGA-AB-2858-03D-01W-0755-09 TCGA-AB-2858-12A-01W-0755-09 T T T C T T Verified Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq 1 dbGAP Illumina HiSeq b9dcb0aa-0098-49a9-a0c8-790a06dadea8 d964bbe3-75e8-47d6-a495-505ff49b9f2b X 53425957 53425957 T C SNP SMC1A NM_006306.2 human genbank 54_36p -1 reviewed missense c.3358 p.K1120E 1.000 HMMPfam_SMC_N,superfamily_SSF52540 HMMPfam_SMC_N,HMMPfam_SMC_hinge,superfamily_SMC_hinge,superfamily_SSF52540 - no_errors 117 4 3.31 87 42 32.56 34 62 64.58 +GBP4 0 genome.wustl.edu 37 1 89652701 89652701 + Missense_Mutation SNP C C T TCGA-AB-2858-03D-01W-0755-09 TCGA-AB-2858-12A-01W-0755-09 C C C T C C Verified Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq 1 dbGAP Illumina HiSeq b9dcb0aa-0098-49a9-a0c8-790a06dadea8 d964bbe3-75e8-47d6-a495-505ff49b9f2b 1 89425289 89425289 C T SNP GBP4 NM_052941.4 human genbank 54_36p -1 validated missense c.1495 p.G499R 0.001 HMMPfam_GBP_C,superfamily_GBP HMMPfam_GBP_C,HMMPfam_GBP,superfamily_GBP,superfamily_SSF52540 - no_errors 194 8 3.96 161 78 32.64 19 21 52.50 +CORIN 0 genome.wustl.edu 37 4 47667068 47667068 + Missense_Mutation SNP C C T TCGA-AB-2858-03D-01W-0755-09 TCGA-AB-2858-12A-01W-0755-09 C C C T C C Verified Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq 1 dbGAP Illumina HiSeq b9dcb0aa-0098-49a9-a0c8-790a06dadea8 d964bbe3-75e8-47d6-a495-505ff49b9f2b 4 47361825 47361825 C T SNP CORIN NM_006587.2 human genbank 54_36p -1 reviewed missense c.1570 p.E524K 0.119 superfamily_Frizzled cysteine-rich domain,HMMPfam_Fz,HMMSmart_SM00063 superfamily_Frizzled cysteine-rich domain,PatternScan_SRCR_1,HMMPfam_Trypsin,HMMSmart_SM00020,HMMPfam_Ldl_recept_a,HMMSmart_SM00192,PatternScan_LDLRA_1,superfamily_LDL receptor-like module,superfamily_Trypsin-like serine proteases,HMMSmart_SM00202,superfamily_SRCR-like,PatternScan_TRYPSIN_SER,HMMPfam_Fz,HMMSmart_SM00063 - no_errors 148 5 3.25 72 37 33.94 NA NA NA +RAPGEF2 0 genome.wustl.edu 37 4 160243597 160243597 + Nonsense_Mutation SNP G G T TCGA-AB-2858-03D-01W-0755-09 TCGA-AB-2858-12A-01W-0755-09 G G G T G G Verified Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq 1 dbGAP Illumina HiSeq b9dcb0aa-0098-49a9-a0c8-790a06dadea8 d964bbe3-75e8-47d6-a495-505ff49b9f2b 4 160463047 160463047 G T SNP RAPGEF2 NM_014247.2 human genbank 54_36p +1 validated nonsense c.469 p.E157* 1.000 HMMPfam_cNMP_binding,HMMSmart_cNMP,superfamily_cNMP_binding HMMPfam_RA,HMMSmart_RA,HMMPfam_cNMP_binding,HMMSmart_cNMP,HMMPfam_RasGEF_N,HMMSmart_RasGEFN,HMMPfam_PDZ,HMMSmart_PDZ,superfamily_PDZ,HMMPfam_RasGEF,HMMSmart_RasGEF,superfamily_Ras_GEF,superfamily_cNMP_binding - no_errors 163 6 3.49 164 69 29.61 4 5 55.56 +PCDHB9 0 genome.wustl.edu 37 5 140569138 140569138 + Missense_Mutation SNP C C T TCGA-AB-2858-03D-01W-0755-09 TCGA-AB-2858-12A-01W-0755-09 C C C T C C Verified Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq 1 dbGAP Illumina HiSeq b9dcb0aa-0098-49a9-a0c8-790a06dadea8 d964bbe3-75e8-47d6-a495-505ff49b9f2b 5 140549322 140549322 C T SNP PCDHB9 NM_019119.3 human genbank 54_36p +1 reviewed missense c.2246 p.T749I 0.141 NULL HMMPfam_Cadherin,HMMSmart_SM00112,PatternScan_CADHERIN_1,HMMPfam_Cadherin_2,superfamily_Cadherin-like - pseudogene:no_stop_codon:bad_bp_length_for_coding_region 79 4 4.82 74 29 28.16 NA NA NA +ZSCAN21 0 genome.wustl.edu 37 7 99654638 99654638 + Silent SNP C C T TCGA-AB-2858-03D-01W-0755-09 TCGA-AB-2858-12A-01W-0755-09 C C C T C C Verified Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq 1 dbGAP Illumina HiSeq b9dcb0aa-0098-49a9-a0c8-790a06dadea8 d964bbe3-75e8-47d6-a495-505ff49b9f2b 7 99492574 99492574 C T SNP ZSCAN21 NM_145914.2 human genbank 54_36p +1 validated silent c.9 p.T3 0.942 NULL HMMPfam_SCAN,HMMSmart_SM00431,HMMPfam_zf-C2H2,PatternScan_ZINC_FINGER_C2H2_1,HMMSmart_SM00355,superfamily_C2H2 and C2HC zinc fingers - no_errors 50 2 3.70 80 22 21.36 4 6 60.00 +DNAI1 0 genome.wustl.edu 37 9 34514416 34514416 + Missense_Mutation SNP T T C TCGA-AB-2858-03D-01W-0755-09 TCGA-AB-2858-12A-01W-0755-09 T T T C T T Verified Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq 1 dbGAP Illumina HiSeq b9dcb0aa-0098-49a9-a0c8-790a06dadea8 d964bbe3-75e8-47d6-a495-505ff49b9f2b 9 34504416 34504416 T C SNP DNAI1 NM_012144.2 human genbank 54_36p +1 reviewed missense c.1594 p.F532L 1.000 HMMSmart_WD40,superfamily_WD40_like,HMMPfam_WD40 HMMSmart_WD40,superfamily_WD40_like,PatternScan_WD_REPEATS_1,HMMPfam_WD40 - no_errors 65 2 2.99 84 44 34.38 NA NA NA +PRF1 0 genome.wustl.edu 37 10 72360182 72360182 + Silent SNP G G A TCGA-AB-2858-03D-01W-0755-09 TCGA-AB-2858-12A-01W-0755-09 G G G A G G Verified Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq 1 dbGAP Illumina HiSeq b9dcb0aa-0098-49a9-a0c8-790a06dadea8 d964bbe3-75e8-47d6-a495-505ff49b9f2b 10 72030188 72030188 G A SNP PRF1 NM_001083116.1 human genbank 54_36p -1 reviewed silent c.477 p.A159 0.008 HMMPfam_MACPF HMMPfam_C2,HMMSmart_SM00239,HMMPfam_MACPF,HMMSmart_SM00457,PatternScan_MAC_PERFORIN,superfamily_C2 domain (Calcium/lipid-binding domain CaLB) - no_errors 106 5 4.46 189 98 34.15 16 0 0.00 +WAPAL 0 genome.wustl.edu 37 10 88277746 88277746 + Missense_Mutation SNP T T G TCGA-AB-2858-03D-01W-0755-09 TCGA-AB-2858-12A-01W-0755-09 T T T G T T Verified Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq 1 dbGAP Illumina HiSeq b9dcb0aa-0098-49a9-a0c8-790a06dadea8 d964bbe3-75e8-47d6-a495-505ff49b9f2b 10 88267726 88267726 T G SNP WAPAL NM_015045.2 human genbank 54_36p -1 validated missense c.81 p.K27N 1.000 NULL HMMPfam_WAPL,superfamily_ARM repeat - no_errors 118 4 3.23 116 64 35.56 47 32 40.51 +DCDC5 0 genome.wustl.edu 37 11 30938514 30938514 + Missense_Mutation SNP A A T TCGA-AB-2858-03D-01W-0755-09 TCGA-AB-2858-12A-01W-0755-09 A A A T A A Verified Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq 1 dbGAP Illumina HiSeq b9dcb0aa-0098-49a9-a0c8-790a06dadea8 d964bbe3-75e8-47d6-a495-505ff49b9f2b 11 30895090 30895090 A T SNP DCDC5 ENST00000406071 human ensembl 54_36p -1 known missense c.685 p.W229R 1.000 NULL HMMPfam_DCX,superfamily_RicinB_like,superfamily_SSF89837 - no_errors 119 10 7.69 104 37 26.24 NA NA NA +GRIK4 0 genome.wustl.edu 37 11 120833249 120833249 + Missense_Mutation SNP G G A TCGA-AB-2858-03D-01W-0755-09 TCGA-AB-2858-12A-01W-0755-09 G G G A G G Verified Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq 1 dbGAP Illumina HiSeq b9dcb0aa-0098-49a9-a0c8-790a06dadea8 d964bbe3-75e8-47d6-a495-505ff49b9f2b 11 120338459 120338459 G A SNP GRIK4 NM_014619.2 human genbank 54_36p +1 reviewed missense c.2125 p.G709R 1.000 HMMPfam_Lig_chan,HMMSmart_PBPe,superfamily_SSF53850 HMMPfam_Lig_chan,HMMSmart_PBPe,HMMPfam_ANF_receptor,HMMPfam_Lig_chan-Glu_bd,superfamily_SSF53822,superfamily_SSF53850 - no_errors 56 0 0.00 44 18 29.03 1 0 0.00 +C12orf63 0 genome.wustl.edu 37 12 97150340 97150340 + Missense_Mutation SNP G G A TCGA-AB-2858-03D-01W-0755-09 TCGA-AB-2858-12A-01W-0755-09 G G G A G G Verified Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq 1 dbGAP Illumina HiSeq b9dcb0aa-0098-49a9-a0c8-790a06dadea8 d964bbe3-75e8-47d6-a495-505ff49b9f2b 12 95674471 95674471 G A SNP C12orf63 NM_198520.2 human genbank 54_36p +1 validated missense c.3220 p.G1074R 1.000 NULL NULL - no_errors 227 13 5.31 181 66 26.72 NA NA NA +IGHG3 0 genome.wustl.edu 37 14 106234188 106234188 + Silent SNP A A G TCGA-AB-2858-03D-01W-0755-09 TCGA-AB-2858-12A-01W-0755-09 A A A G A A Verified Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq 1 dbGAP Illumina HiSeq b9dcb0aa-0098-49a9-a0c8-790a06dadea8 d964bbe3-75e8-47d6-a495-505ff49b9f2b 14 105305233 105305233 A G SNP IGHG3 ENST00000390550 human ensembl 54_36p -1 known silent c.1218 p.C406 1.000 NULL PatternScan_IG_MHC,HMMPfam_C1-set,HMMSmart_SM00407,superfamily_Immunoglobulin - no_start_codon:pseudogene:no_stop_codon:bad_bp_length_for_coding_region 41 0 0.00 54 9 14.29 0 1 100.00 +SLTM 0 genome.wustl.edu 37 15 59179602 59179602 + Missense_Mutation SNP A A G TCGA-AB-2858-03D-01W-0755-09 TCGA-AB-2858-12A-01W-0755-09 A A A G A A Verified Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq 1 dbGAP Illumina HiSeq b9dcb0aa-0098-49a9-a0c8-790a06dadea8 d964bbe3-75e8-47d6-a495-505ff49b9f2b 15 56966894 56966894 A G SNP SLTM NM_024755.1 human genbank 54_36p -1 validated missense c.2513 p.L838P 1.000 NULL HMMPfam_RRM_1,HMMSmart_RRM,HMMPfam_SAP,HMMSmart_SAP,superfamily_SSF54928,superfamily_SSF68906 - no_errors 250 8 3.08 234 114 32.76 125 82 39.61 +CACNG4 0 genome.wustl.edu 37 17 65026862 65026862 + Silent SNP C C T TCGA-AB-2858-03D-01W-0755-09 TCGA-AB-2858-12A-01W-0755-09 C C C T C C Verified Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq 1 dbGAP Illumina HiSeq b9dcb0aa-0098-49a9-a0c8-790a06dadea8 d964bbe3-75e8-47d6-a495-505ff49b9f2b 17 62457324 62457324 C T SNP CACNG4 NM_014405.2 human genbank 54_36p +1 reviewed silent c.726 p.R242 0.999 NULL HMMPfam_PMP22_Claudin,PatternScan_CLAUDIN - no_errors 244 7 2.76 206 88 29.93 NA NA NA +TFDP3 0 genome.wustl.edu 37 X 132351106 132351106 + Silent SNP G G A TCGA-AB-2859-03B-01W-0728-08 TCGA-AB-2859-11B-01W-0729-08 G G G A G G Verified Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq 1 dbGAP Illumina HiSeq b4f66f34-4aa4-413b-b4ca-21ec2c850d0c db602e88-3b9e-4f38-9035-91bdcec0962f X 132178772 132178772 G A SNP TFDP3 NM_016521.2 human genbank 54_36p -1 validated silent c.1002 p.N334 1.000 NULL HMMPfam_E2F_TDP,HMMPfam_DP,superfamily_"Winged helix" DNA-binding domain - no_errors 71 0 0.00 98 193 65.87 NA NA NA +FAM212B 0 genome.wustl.edu 37 1 112270297 112270297 + Missense_Mutation SNP C C T TCGA-AB-2859-03B-01W-0728-08 TCGA-AB-2859-11B-01W-0729-08 C C C T C C Verified Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq 1 dbGAP Illumina HiSeq b4f66f34-4aa4-413b-b4ca-21ec2c850d0c db602e88-3b9e-4f38-9035-91bdcec0962f 1 112071820 112071820 C T SNP C1orf183 NM_019099.3 human genbank 54_36p -1 validated missense c.187 p.V63M 0.002 NULL NULL - no_errors 248 2 0.80 539 325 37.10 1 3 75.00 +FAM58BP 0 genome.wustl.edu 37 1 200183058 200183058 + Missense_Mutation SNP G G A TCGA-AB-2859-03B-01W-0728-08 TCGA-AB-2859-11B-01W-0729-08 G G G A G G Verified Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq 1 dbGAP Illumina HiSeq b4f66f34-4aa4-413b-b4ca-21ec2c850d0c db602e88-3b9e-4f38-9035-91bdcec0962f 1 198449681 198449681 G A SNP FAM58B NM_001105517.1 human genbank 54_36p +1 inferred missense c.367 p.D123N 1.000 HMMSmart_CYCLIN,superfamily_Cyclin_like HMMSmart_CYCLIN,PatternScan_CYCLINS,superfamily_Cyclin_like - no_errors 108 0 0.00 505 246 32.33 NA NA NA +DNMT3A 0 genome.wustl.edu 37 2 25457242 25457242 + Missense_Mutation SNP C C T TCGA-AB-2859-03B-01W-0728-08 TCGA-AB-2859-11B-01W-0729-08 C C C T C C Verified Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq 1 dbGAP Illumina HiSeq b4f66f34-4aa4-413b-b4ca-21ec2c850d0c db602e88-3b9e-4f38-9035-91bdcec0962f 2 25310746 25310746 C T SNP DNMT3A NM_022552.3 human genbank 54_36p -1 reviewed missense c.2645 p.R882H 1.000 superfamily_S-adenosyl-L-methionine-dependent methyltransferases HMMPfam_PWWP,HMMSmart_SM00293,HMMPfam_DNA_methylase,superfamily_FYVE/PHD zinc finger,PatternScan_C5_MTASE_1,superfamily_S-adenosyl-L-methionine-dependent methyltransferases,superfamily_Tudor/PWWP/MBT - no_errors 121 3 2.42 169 94 35.61 33 34 50.75 +PRDM9 0 genome.wustl.edu 37 5 23526786 23526786 + Missense_Mutation SNP G G A TCGA-AB-2859-03B-01W-0728-08 TCGA-AB-2859-11B-01W-0729-08 G G G A G G Verified Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq 1 dbGAP Illumina HiSeq b4f66f34-4aa4-413b-b4ca-21ec2c850d0c db602e88-3b9e-4f38-9035-91bdcec0962f 5 23562543 23562543 G A SNP PRDM9 NM_020227.2 human genbank 54_36p +1 provisional missense c.1589 p.G530E 0.974 HMMSmart_ZnF_C2H2 HMMSmart_SET,HMMPfam_KRAB,HMMSmart_KRAB,superfamily_Krueppel-associated_box,HMMPfam_zf-C2H2,PatternScan_ZINC_FINGER_C2H2_1,HMMSmart_ZnF_C2H2,HMMPfam_SSXRD,superfamily_SSF57667,superfamily_SSF82199 - no_errors 144 0 0.00 369 191 33.87 NA NA NA +RREB1 0 genome.wustl.edu 37 6 7230591 7230591 + Silent SNP C C G TCGA-AB-2859-03B-01W-0728-08 TCGA-AB-2859-11B-01W-0729-08 C C C G C C Verified Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq 1 dbGAP Illumina HiSeq b4f66f34-4aa4-413b-b4ca-21ec2c850d0c db602e88-3b9e-4f38-9035-91bdcec0962f 6 7175590 7175590 C G SNP RREB1 NM_001003699.2 human genbank 54_36p +1 validated silent c.2259 p.T753 0.984 HMMPfam_zf-C2H2,HMMSmart_ZnF_C2H2 HMMPfam_zf-C2H2,PatternScan_ZINC_FINGER_C2H2_1,HMMSmart_ZnF_C2H2,superfamily_SSF57667 - no_errors 53 1 1.85 79 53 39.85 35 42 54.55 +MTUS1 0 genome.wustl.edu 37 8 17541960 17541960 + Silent SNP C C T TCGA-AB-2859-03B-01W-0728-08 TCGA-AB-2859-11B-01W-0729-08 C C C T C C Verified Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq 1 dbGAP Illumina HiSeq b4f66f34-4aa4-413b-b4ca-21ec2c850d0c db602e88-3b9e-4f38-9035-91bdcec0962f 8 17586240 17586240 C T SNP MTUS1 NM_001001924.2 human genbank 54_36p -1 reviewed silent c.2715 p.L905 0.954 NULL NULL - no_errors 214 1 0.46 603 218 26.17 2 0 0.00 +OR51A7 0 genome.wustl.edu 37 11 4929441 4929441 + Missense_Mutation SNP T T G TCGA-AB-2859-03B-01W-0728-08 TCGA-AB-2859-11B-01W-0729-08 T T T G T T Verified Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq 1 dbGAP Illumina HiSeq b4f66f34-4aa4-413b-b4ca-21ec2c850d0c db602e88-3b9e-4f38-9035-91bdcec0962f 11 4886017 4886017 T G SNP OR51A7 NM_001004749.1 human genbank 54_36p +1 provisional missense c.842 p.L281W 0.120 HMMPfam_7tm_1,superfamily_SSF81321 HMMPfam_7tm_1,PatternScan_G_PROTEIN_RECEP_F1_1,superfamily_SSF81321 - no_errors 205 4 1.91 382 230 37.40 NA NA NA +VPS26B 0 genome.wustl.edu 37 11 134095072 134095072 + Missense_Mutation SNP C C G TCGA-AB-2859-03B-01W-0728-08 TCGA-AB-2859-11B-01W-0729-08 C C C G C C Verified Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq 1 dbGAP Illumina HiSeq b4f66f34-4aa4-413b-b4ca-21ec2c850d0c db602e88-3b9e-4f38-9035-91bdcec0962f 11 133600282 133600282 C G SNP VPS26B NM_052875.3 human genbank 54_36p +1 validated missense c.56 p.A19G 0.999 HMMPfam_Vps26 HMMPfam_Vps26 - no_errors 249 20 7.43 97 90 48.13 41 36 46.75 +KRTAP4-2 0 genome.wustl.edu 37 17 39334314 39334314 + Missense_Mutation SNP A A T TCGA-AB-2859-03B-01W-0728-08 TCGA-AB-2859-11B-01W-0729-08 A A A T A A Verified Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq 1 dbGAP Illumina HiSeq b4f66f34-4aa4-413b-b4ca-21ec2c850d0c db602e88-3b9e-4f38-9035-91bdcec0962f 17 36587840 36587840 A T SNP KRTAP4-2 NM_033062.2 human genbank 54_36p -1 reviewed missense c.103 p.C35S 1.000 HMMPfam_Keratin_B2 HMMPfam_Keratin_B2 - no_errors 72 1 1.37 213 52 19.55 NA NA NA +KRT13 0 genome.wustl.edu 37 17 39658952 39658952 + Missense_Mutation SNP G G A TCGA-AB-2859-03B-01W-0728-08 TCGA-AB-2859-11B-01W-0729-08 G G G A G G Verified Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq 1 dbGAP Illumina HiSeq b4f66f34-4aa4-413b-b4ca-21ec2c850d0c db602e88-3b9e-4f38-9035-91bdcec0962f 17 36912478 36912478 G A SNP KRT13 NM_153490.3 human genbank 54_36p -1 reviewed missense c.1010 p.S337F 0.999 superfamily_Prefoldin,HMMPfam_Filament superfamily_Prefoldin,HMMPfam_Filament,PatternScan_IF - no_errors 151 0 0.00 188 93 32.63 NA NA NA +COL18A1-AS1 0 genome.wustl.edu 37 21 46841432 46841432 + Silent SNP G G A TCGA-AB-2859-03B-01W-0728-08 TCGA-AB-2859-11B-01W-0729-08 G G G A G G Verified Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq 1 dbGAP Illumina HiSeq b4f66f34-4aa4-413b-b4ca-21ec2c850d0c db602e88-3b9e-4f38-9035-91bdcec0962f 21 45665860 45665860 G A SNP C21orf123 ENST00000330082 human ensembl 54_36p -1 known silent c.256 p.L86 0.023 NULL NULL - no_errors 42 0 0.00 35 16 31.37 NA NA NA +NPM1 0 genome.wustl.edu 37 5 170837545 170837546 + Frame_Shift_Ins INS - - CTGC TCGA-AB-2859-03B-01W-0728-08 TCGA-AB-2859-11B-01W-0729-08 - - - CTGC - - Verified Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq 1 dbGAP Illumina HiSeq b4f66f34-4aa4-413b-b4ca-21ec2c850d0c db602e88-3b9e-4f38-9035-91bdcec0962f 5 170770150 170770151 - CTGC INS NPM1 NM_002520.1 human genbank 54_36p +1 validated frame_shift_ins c.861_862 p.W287fs 1.000:1.000 NULL HMMPfam_Nucleoplasmin,superfamily_Nucleoplasmin-like core domain - no_errors NA NA NA NA NA NA NA NA NA +HNRNPK 0 genome.wustl.edu 37 9 86591919 86591920 + Frame_Shift_Del DEL GA GA - TCGA-AB-2859-03B-01W-0728-08 TCGA-AB-2859-11B-01W-0729-08 GA GA GA - GA GA Verified Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq 1 dbGAP Illumina HiSeq b4f66f34-4aa4-413b-b4ca-21ec2c850d0c db602e88-3b9e-4f38-9035-91bdcec0962f 9 85781739 85781740 GA - DEL HNRNPK NM_002140.3 human genbank 54_36p -1 reviewed frame_shift_del c.204_203 p.L68fs 0.999:1.000 HMMSmart_SM00322,HMMPfam_KH_1,superfamily_Eukaryotic type KH-domain (KH-domain type I) HMMSmart_SM00322,HMMPfam_ROKNT,HMMPfam_KH_1,superfamily_Eukaryotic type KH-domain (KH-domain type I) - no_errors 0 0 0.00 0 73 29.32 0 3 23.08 +USP10 0 genome.wustl.edu 37 16 84779243 84779243 + Frame_Shift_Del DEL C C - TCGA-AB-2859-03B-01W-0728-08 TCGA-AB-2859-11B-01W-0729-08 C C C - C C Verified Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq 1 dbGAP Illumina HiSeq b4f66f34-4aa4-413b-b4ca-21ec2c850d0c db602e88-3b9e-4f38-9035-91bdcec0962f 16 83336744 83336744 C - DEL USP10 NM_005153.2 human genbank 54_36p +1 reviewed frame_shift_del c.1156 p.P386fs 1.000 NULL HMMPfam_UCH,HMMPfam_PAM2,PatternScan_UCH_2_1,PatternScan_UCH_2_2,superfamily_SSF54001 - no_errors 36 0 0.00 215 81 27.00 16 3 15.00 +MIR516B1 0 genome.wustl.edu 37 19 54240182 54240183 + RNA DEL TT TT - TCGA-AB-2859-03B-01W-0728-08 TCGA-AB-2859-11B-01W-0729-08 TT TT TT - TT TT Verified Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq 1 dbGAP Illumina HiSeq b4f66f34-4aa4-413b-b4ca-21ec2c850d0c db602e88-3b9e-4f38-9035-91bdcec0962f 19 58931994 58931995 TT - DEL MIRN516B1 ENST00000385211 human ensembl 54_36p +1 known rna NULL NULL 0.000:0.000 - - - no_errors 0 0 0.00 0 8 9.76 0 0 0.00 +PLOD1 0 genome.wustl.edu 37 1 12024810 12024810 + Missense_Mutation SNP G G A TCGA-AB-2860-03B-01W-0728-08 TCGA-AB-2860-11B-01W-0729-08 G G G A G G Verified Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq 1 dbGAP Illumina HiSeq 3b8b7cea-9e19-426f-9e58-d40de477ce12 a9f714a7-2581-4ce0-b077-3db990730b27 1 11947397 11947397 G A SNP PLOD1 NM_000302.2 human genbank 54_36p +1 reviewed missense c.1438 p.D480N 0.997 NULL PatternScan_LYS_HYDROXYLASE,HMMPfam_2OG-FeII_Oxy,HMMSmart_P4Hc - no_errors 26 0 0.00 8 5 38.46 40 31 43.66 +MNDA 0 genome.wustl.edu 37 1 158815449 158815449 + Missense_Mutation SNP G G A TCGA-AB-2860-03B-01W-0728-08 TCGA-AB-2860-11B-01W-0729-08 G G G A G G Verified Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq 1 dbGAP Illumina HiSeq 3b8b7cea-9e19-426f-9e58-d40de477ce12 a9f714a7-2581-4ce0-b077-3db990730b27 1 157082073 157082073 G A SNP MNDA NM_002432.1 human genbank 54_36p +1 reviewed missense c.643 p.V215M 0.003 HMMPfam_HIN HMMPfam_PAAD_DAPIN,HMMPfam_HIN - no_errors 76 0 0.00 73 30 29.13 124 130 51.18 +LOC644456 0 genome.wustl.edu 37 2 58688100 58688100 + RNA SNP C C T TCGA-AB-2860-03B-01W-0728-08 TCGA-AB-2860-11B-01W-0729-08 C C C T C C Verified Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq 1 dbGAP Illumina HiSeq 3b8b7cea-9e19-426f-9e58-d40de477ce12 a9f714a7-2581-4ce0-b077-3db990730b27 2 58541604 58541604 C T SNP LOC644456 XR_039438.1 human genbank 54_36p -1 model rna NULL NULL 0.005 - - - pseudogene 75 2 2.60 162 50 23.36 18 0 0.00 +VN2R1P 0 genome.wustl.edu 37 3 155754637 155754637 + Missense_Mutation SNP G G A TCGA-AB-2860-03B-01W-0728-08 TCGA-AB-2860-11B-01W-0729-08 G G G A G G Verified Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq 1 dbGAP Illumina HiSeq 3b8b7cea-9e19-426f-9e58-d40de477ce12 a9f714a7-2581-4ce0-b077-3db990730b27 3 157237331 157237331 G A SNP CASRL1 ENST00000312652 human ensembl 54_36p +1 known missense c.1430 p.R477K 0.173 HMMPfam_7tm_3 HMMPfam_ANF_receptor,HMMPfam_NCD3G,HMMPfam_7tm_3,PatternScan_G_PROTEIN_RECEP_F3_1,PatternScan_G_PROTEIN_RECEP_F3_2,PatternScan_G_PROTEIN_RECEP_F3_3,superfamily_SSF53822 - no_errors 27 0 0.00 77 29 27.36 NA NA NA +HS3ST1 0 genome.wustl.edu 37 4 11401018 11401018 + Silent SNP C C T TCGA-AB-2860-03B-01W-0728-08 TCGA-AB-2860-11B-01W-0729-08 C C C T C C Verified Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq 1 dbGAP Illumina HiSeq 3b8b7cea-9e19-426f-9e58-d40de477ce12 a9f714a7-2581-4ce0-b077-3db990730b27 4 11010116 11010116 C T SNP HS3ST1 NM_005114.2 human genbank 54_36p -1 reviewed silent c.612 p.L204 0.999 HMMPfam_Sulfotransfer_1,superfamily_P-loop containing nucleoside triphosphate hydrolases HMMPfam_Sulfotransfer_1,superfamily_P-loop containing nucleoside triphosphate hydrolases - no_errors 23 0 0.00 31 19 38.00 13 8 38.10 +FRAS1 0 genome.wustl.edu 37 4 79188550 79188550 + Silent SNP C C T TCGA-AB-2860-03B-01W-0728-08 TCGA-AB-2860-11B-01W-0729-08 C C C T C C Verified Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq 1 dbGAP Illumina HiSeq 3b8b7cea-9e19-426f-9e58-d40de477ce12 a9f714a7-2581-4ce0-b077-3db990730b27 4 79407574 79407574 C T SNP FRAS1 ENST00000380674 human ensembl 54_36p +1 known silent c.945 p.C315 1.000 HMMPfam_VWC,HMMSmart_SM00214,PatternScan_VWFC_1 HMMPfam_VWC,HMMSmart_SM00214,PatternScan_VWFC_1,HMMPfam_Calx-beta,HMMSmart_SM00237,HMMSmart_SM00181,HMMSmart_SM00261,HMMSmart_SM00215,superfamily_Growth factor receptor domain - no_errors 49 1 2.00 141 44 23.78 NA NA NA +DCHS2 0 genome.wustl.edu 37 4 155253840 155253840 + Missense_Mutation SNP T T A TCGA-AB-2860-03B-01W-0728-08 TCGA-AB-2860-11B-01W-0729-08 T T T A T T Verified Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq 1 dbGAP Illumina HiSeq 3b8b7cea-9e19-426f-9e58-d40de477ce12 a9f714a7-2581-4ce0-b077-3db990730b27 4 155473290 155473290 T A SNP DCHS2 NM_017639.1 human genbank 54_36p -1 validated missense c.2023 p.S675C 1.000 HMMSmart_SM00112,superfamily_Cadherin-like HMMPfam_Cadherin,HMMSmart_SM00112,PatternScan_CADHERIN_1,superfamily_Cadherin-like - no_errors 29 0 0.00 50 35 41.18 NA NA NA +LOC392008 0 genome.wustl.edu 37 7 27309104 27309104 + RNA SNP C C T TCGA-AB-2860-03B-01W-0728-08 TCGA-AB-2860-11B-01W-0729-08 C C C T C C Verified Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq 1 dbGAP Illumina HiSeq 3b8b7cea-9e19-426f-9e58-d40de477ce12 a9f714a7-2581-4ce0-b077-3db990730b27 7 27275629 27275629 C T SNP LOC392008 XR_017366.1 human genbank 54_36p -1 model rna NULL NULL 1.000 - - - no_errors 38 0 0.00 48 28 36.84 NA NA NA +CLIP2 0 genome.wustl.edu 37 7 73790978 73790978 + Silent SNP C C T TCGA-AB-2860-03B-01W-0728-08 TCGA-AB-2860-11B-01W-0729-08 C C C T C C Verified Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq 1 dbGAP Illumina HiSeq 3b8b7cea-9e19-426f-9e58-d40de477ce12 a9f714a7-2581-4ce0-b077-3db990730b27 7 73428914 73428914 C T SNP CLIP2 NM_003388.4 human genbank 54_36p +1 reviewed silent c.2247 p.I749 0.992 NULL HMMPfam_CAP_GLY,PatternScan_CAP_GLY_1,superfamily_Cap-Gly domain - no_errors 35 0 0.00 46 13 22.03 17 13 43.33 +ENTPD1 0 genome.wustl.edu 37 10 97607227 97607227 + Missense_Mutation SNP G G A TCGA-AB-2860-03B-01W-0728-08 TCGA-AB-2860-11B-01W-0729-08 G G G A G G Verified Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq 1 dbGAP Illumina HiSeq 3b8b7cea-9e19-426f-9e58-d40de477ce12 a9f714a7-2581-4ce0-b077-3db990730b27 10 97597217 97597217 G A SNP ENTPD1 NM_001098175.1 human genbank 54_36p +1 validated missense c.859 p.D287N 0.005 HMMPfam_GDA1_CD39 HMMPfam_GDA1_CD39,PatternScan_GDA1_CD39_NTPASE - no_errors 36 0 0.00 71 17 19.10 20 8 28.57 +NPAS4 0 genome.wustl.edu 37 11 66192415 66192415 + Missense_Mutation SNP A A G TCGA-AB-2860-03B-01W-0728-08 TCGA-AB-2860-11B-01W-0729-08 A A A G A A Verified Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq 1 dbGAP Illumina HiSeq 3b8b7cea-9e19-426f-9e58-d40de477ce12 a9f714a7-2581-4ce0-b077-3db990730b27 11 65948991 65948991 A G SNP NPAS4 NM_178864.3 human genbank 54_36p +1 validated missense c.2054 p.D685G 0.874 NULL HMMSmart_PAS,HMMPfam_PAS_3,superfamily_SSF55785 - no_errors 57 2 3.39 13 9 40.91 NA NA NA +MUC16 0 genome.wustl.edu 37 19 9060849 9060849 + Missense_Mutation SNP G G A TCGA-AB-2860-03B-01W-0728-08 TCGA-AB-2860-11B-01W-0729-08 G G G A G G Verified Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq 1 dbGAP Illumina HiSeq 3b8b7cea-9e19-426f-9e58-d40de477ce12 a9f714a7-2581-4ce0-b077-3db990730b27 19 8921849 8921849 G A SNP MUC16 NM_024690.2 human genbank 54_36p -1 validated missense c.26597 p.S8866L 0.000 NULL HMMPfam_SEA,HMMSmart_SM00200,PatternScan_ATPASE_ALPHA_BETA,superfamily_SEA domain - no_errors 176 3 1.64 110 37 24.83 NA NA NA +RYR1 0 genome.wustl.edu 37 19 38987175 38987175 + Missense_Mutation SNP G G A TCGA-AB-2860-03B-01W-0728-08 TCGA-AB-2860-11B-01W-0729-08 G G G A G G Verified Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq 1 dbGAP Illumina HiSeq 3b8b7cea-9e19-426f-9e58-d40de477ce12 a9f714a7-2581-4ce0-b077-3db990730b27 19 43679015 43679015 G A SNP RYR1 NM_000540.2 human genbank 54_36p +1 reviewed missense c.6790 p.G2264S 1.000 HMMPfam_RYDR_ITPR HMMPfam_RYDR_ITPR,HMMPfam_RyR,HMMPfam_MIR,superfamily_MIR domain (Pfam 02815),HMMPfam_SPRY,HMMPfam_Ion_trans,HMMPfam_RR_TM4-6,HMMPfam_RIH_assoc,HMMPfam_Ins145_P3_rec,HMMSmart_SM00472,HMMSmart_SM00449,superfamily_EF-hand - no_errors 18 0 0.00 10 6 37.50 NA NA NA +TP53 0 genome.wustl.edu 37 17 7579569 7579570 + Frame_Shift_Ins INS - - CCATCCAG TCGA-AB-2860-03B-01W-0728-08 TCGA-AB-2860-11B-01W-0729-08 - - - CCATCCAG - - Verified Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq 1 dbGAP Illumina HiSeq 3b8b7cea-9e19-426f-9e58-d40de477ce12 a9f714a7-2581-4ce0-b077-3db990730b27 17 7520294 7520295 - CCATCCAG INS TP53 NM_000546.4 human genbank 54_36p -1 reviewed frame_shift_ins c.118_117 p.M39fs 0.000:0.000 NULL PatternScan_P53,superfamily_p53-like transcription factors,HMMPfam_P53_tetramer,superfamily_p53 tetramerization domain,HMMPfam_P53,HMMPfam_P53_TAD - no_errors NA NA NA NA NA NA NA NA NA +ZNF681 0 genome.wustl.edu 37 19 23927743 23927744 + Frame_Shift_Del DEL CA CA - rs61397759 TCGA-AB-2860-03B-01W-0728-08 TCGA-AB-2860-11B-01W-0729-08 CA CA CA - CA CA Verified Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq 1 dbGAP Illumina HiSeq 3b8b7cea-9e19-426f-9e58-d40de477ce12 a9f714a7-2581-4ce0-b077-3db990730b27 19 23719583 23719584 CA - DEL ZNF681 NM_138286.2 human genbank 54_36p -1 validated frame_shift_del c.609_608 p.C203fs 1.000:0.998 HMMPfam_zf-C2H2,PatternScan_ZINC_FINGER_C2H2_1,HMMSmart_SM00355,superfamily_C2H2 and C2HC zinc fingers HMMPfam_KRAB,HMMSmart_SM00349,superfamily_KRAB domain (Kruppel-associated box Pfam 01352),HMMPfam_zf-C2H2,PatternScan_ZINC_FINGER_C2H2_1,HMMSmart_SM00355,superfamily_C2H2 and C2HC zinc fingers - no_errors 0 0 0.00 0 0 0.00 0 0 0.00 +B4GALT3 0 genome.wustl.edu 37 1 161143511 161143511 + Silent SNP C C T TCGA-AB-2861-03B-01W-0728-08 TCGA-AB-2861-11B-01W-0729-08 C C C T C C Verified Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq 1 dbGAP Illumina HiSeq 6f4de42a-16ce-4536-b5a7-a9380540dda4 c2a59421-c7d4-4b57-a82d-ee675481ba9b 1 159410135 159410135 C T SNP B4GALT3 NM_003779.2 human genbank 54_36p -1 reviewed silent c.687 p.P229 0.701 HMMPfam_Galactosyl_T_2,superfamily_Nucleotide-diphospho-sugar transferases HMMPfam_Galactosyl_T_2,superfamily_Nucleotide-diphospho-sugar transferases - no_errors 611 17 2.70 109 76 40.86 35 45 55.56 +DNMT3A 0 genome.wustl.edu 37 2 25467032 25467032 + Nonsense_Mutation SNP G G A TCGA-AB-2861-03B-01W-0728-08 TCGA-AB-2861-11B-01W-0729-08 G G G A G G Verified Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq 1 dbGAP Illumina HiSeq 6f4de42a-16ce-4536-b5a7-a9380540dda4 c2a59421-c7d4-4b57-a82d-ee675481ba9b 2 25320536 25320536 G A SNP DNMT3A NM_022552.3 human genbank 54_36p -1 reviewed nonsense c.1843 p.Q615* 1.000 NULL HMMPfam_PWWP,HMMSmart_SM00293,HMMPfam_DNA_methylase,superfamily_FYVE/PHD zinc finger,PatternScan_C5_MTASE_1,superfamily_S-adenosyl-L-methionine-dependent methyltransferases,superfamily_Tudor/PWWP/MBT - no_errors 46 0 0.00 5 8 61.54 10 4 28.57 +WIPF1 0 genome.wustl.edu 37 2 175432735 175432735 + Missense_Mutation SNP G G C TCGA-AB-2861-03B-01W-0728-08 TCGA-AB-2861-11B-01W-0729-08 G G G C G G Verified Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq 1 dbGAP Illumina HiSeq 6f4de42a-16ce-4536-b5a7-a9380540dda4 c2a59421-c7d4-4b57-a82d-ee675481ba9b 2 175140981 175140981 G C SNP WIPF1 NM_001077269.1 human genbank 54_36p -1 reviewed missense c.1196 p.P399R 1.000 NULL HMMPfam_WH2,HMMSmart_SM00246 - no_errors 182 2 1.09 37 32 46.38 37 33 47.14 +ZNF197 0 genome.wustl.edu 37 3 44674061 44674061 + Silent SNP C C T TCGA-AB-2861-03B-01W-0728-08 TCGA-AB-2861-11B-01W-0729-08 C C C T C C Verified Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq 1 dbGAP Illumina HiSeq 6f4de42a-16ce-4536-b5a7-a9380540dda4 c2a59421-c7d4-4b57-a82d-ee675481ba9b 3 44649065 44649065 C T SNP ZNF197 NM_006991.1 human genbank 54_36p +1 reviewed silent c.739 p.L247 0.997 HMMPfam_KRAB,HMMSmart_SM00349,superfamily_KRAB domain (Kruppel-associated box Pfam 01352) HMMPfam_KRAB,HMMSmart_SM00349,superfamily_KRAB domain (Kruppel-associated box Pfam 01352),HMMPfam_SCAN,HMMSmart_SM00431,HMMPfam_zf-C2H2,PatternScan_ZINC_FINGER_C2H2_1,HMMSmart_SM00355,superfamily_C2H2 and C2HC zinc fingers - no_errors 232 15 6.07 129 96 42.48 4 3 42.86 +MEPE 0 genome.wustl.edu 37 4 88767387 88767387 + Missense_Mutation SNP G G A TCGA-AB-2861-03B-01W-0728-08 TCGA-AB-2861-11B-01W-0729-08 G G G A G G Verified Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq 1 dbGAP Illumina HiSeq 6f4de42a-16ce-4536-b5a7-a9380540dda4 c2a59421-c7d4-4b57-a82d-ee675481ba9b 4 88986411 88986411 G A SNP MEPE NM_020203.2 human genbank 54_36p +1 validated missense c.1367 p.G456D 0.000 NULL HMMPfam_Osteoregulin - no_errors 282 8 2.76 50 27 35.06 NA NA NA +VARS 0 genome.wustl.edu 37 6 31752211 31752211 + Silent SNP G G A TCGA-AB-2861-03B-01W-0728-08 TCGA-AB-2861-11B-01W-0729-08 G G G A G G Verified Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq 1 dbGAP Illumina HiSeq 6f4de42a-16ce-4536-b5a7-a9380540dda4 c2a59421-c7d4-4b57-a82d-ee675481ba9b 6 31860190 31860190 G A SNP VARS NM_006295.2 human genbank 54_36p -1 reviewed silent c.1536 p.F512 1.000 HMMPfam_tRNA-synt_1,superfamily_ValRS/IleRS/LeuRS editing domain,superfamily_Nucleotidylyl transferase PatternScan_AA_TRNA_LIGASE_I,HMMPfam_tRNA-synt_1,HMMPfam_GST_N,HMMPfam_GST_C,superfamily_ValRS/IleRS/LeuRS editing domain,superfamily_Anticodon-binding domain of a subclass of class I aminoacyl-tRNA synthetases,superfamily_Glutathione S-transferase (GST) C-terminal domain,HMMPfam_Anticodon_1,superfamily_Nucleotidylyl transferase - no_errors 110 3 2.63 15 12 44.44 65 85 56.67 +PGM3 0 genome.wustl.edu 37 6 83881683 83881683 + Missense_Mutation SNP A A T TCGA-AB-2861-03B-01W-0728-08 TCGA-AB-2861-11B-01W-0729-08 A A A T A A Verified Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq 1 dbGAP Illumina HiSeq 6f4de42a-16ce-4536-b5a7-a9380540dda4 c2a59421-c7d4-4b57-a82d-ee675481ba9b 6 83938402 83938402 A T SNP PGM3 NM_015599.1 human genbank 54_36p -1 provisional missense c.1338 p.D446E 0.937 superfamily_Phosphoglucomutase C-terminal domain HMMPfam_PGM_PMM_IV,HMMPfam_PGM_PMM_I,superfamily_Phosphoglucomutase first 3 domains,PatternScan_PGM_PMM,superfamily_Phosphoglucomutase C-terminal domain - no_errors 219 6 2.65 96 77 44.51 6 4 40.00 +HDAC2 0 genome.wustl.edu 37 6 114274557 114274557 + Missense_Mutation SNP C C T TCGA-AB-2861-03B-01W-0728-08 TCGA-AB-2861-11B-01W-0729-08 C C C T C C Verified Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq 1 dbGAP Illumina HiSeq 6f4de42a-16ce-4536-b5a7-a9380540dda4 c2a59421-c7d4-4b57-a82d-ee675481ba9b 6 114381250 114381250 C T SNP HDAC2 NM_001527.2 human genbank 54_36p -1 reviewed missense c.805 p.D269N 1.000 HMMPfam_Hist_deacetyl,superfamily_SSF52768 HMMPfam_Hist_deacetyl,superfamily_SSF52768 - no_errors 90 0 0.00 80 42 34.15 58 40 40.82 +ARHGEF5 0 genome.wustl.edu 37 7 144062359 144062359 + Missense_Mutation SNP G G A TCGA-AB-2861-03B-01W-0728-08 TCGA-AB-2861-11B-01W-0729-08 G G G A G G Verified Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq 1 dbGAP Illumina HiSeq 6f4de42a-16ce-4536-b5a7-a9380540dda4 c2a59421-c7d4-4b57-a82d-ee675481ba9b 7 143693292 143693292 G A SNP ARHGEF5 NM_005435.3 human genbank 54_36p +1 reviewed missense c.2597 p.R866Q 0.023 NULL HMMPfam_RhoGEF,HMMSmart_SM00325,superfamily_DBL homology domain (DH-domain),PatternScan_DH_1,HMMSmart_SM00326,superfamily_SH3-domain,HMMPfam_PH,HMMSmart_SM00233,HMMPfam_SH3_2,superfamily_PH domain-like - no_errors 573 0 0.00 475 65 12.04 NA NA NA +TUSC3 0 genome.wustl.edu 37 8 15480637 15480637 + Missense_Mutation SNP C C T TCGA-AB-2861-03B-01W-0728-08 TCGA-AB-2861-11B-01W-0729-08 C C C T C C Verified Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq 1 dbGAP Illumina HiSeq 6f4de42a-16ce-4536-b5a7-a9380540dda4 c2a59421-c7d4-4b57-a82d-ee675481ba9b 8 15525008 15525008 C T SNP TUSC3 NM_006765.2 human genbank 54_36p +1 reviewed missense c.187 p.R63C 1.000 HMMPfam_OST3_OST6,superfamily_Thioredoxin-like HMMPfam_OST3_OST6,superfamily_Thioredoxin-like - no_errors 86 0 0.00 108 46 29.87 NA NA NA +BNC2 0 genome.wustl.edu 37 9 16436735 16436735 + Missense_Mutation SNP C C T TCGA-AB-2861-03B-01W-0728-08 TCGA-AB-2861-11B-01W-0729-08 C C C T C C Verified Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq 1 dbGAP Illumina HiSeq 6f4de42a-16ce-4536-b5a7-a9380540dda4 c2a59421-c7d4-4b57-a82d-ee675481ba9b 9 16426735 16426735 C T SNP BNC2 NM_017637.5 human genbank 54_36p -1 validated missense c.1457 p.R486H 1.000 HMMSmart_SM00355,superfamily_C2H2 and C2HC zinc fingers HMMPfam_zf-C2H2,PatternScan_ZINC_FINGER_C2H2_1,HMMSmart_SM00355,superfamily_C2H2 and C2HC zinc fingers - no_errors 648 3 0.46 127 45 26.16 NA NA NA +BTBD16 0 genome.wustl.edu 37 10 124034613 124034613 + Missense_Mutation SNP C C T TCGA-AB-2861-03B-01W-0728-08 TCGA-AB-2861-11B-01W-0729-08 C C C T C C Verified Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq 1 dbGAP Illumina HiSeq 6f4de42a-16ce-4536-b5a7-a9380540dda4 c2a59421-c7d4-4b57-a82d-ee675481ba9b 10 124024603 124024603 C T SNP BTBD16 NM_144587.2 human genbank 54_36p +1 validated missense c.17 p.T6M 0.000 NULL superfamily_POZ domain,HMMPfam_BTB - no_errors 353 1 0.28 102 73 41.71 NA NA NA +KRAS 0 genome.wustl.edu 37 12 25398284 25398284 + Missense_Mutation SNP C C A rs121913529 TCGA-AB-2861-03B-01W-0728-08 TCGA-AB-2861-11B-01W-0729-08 C C C A C C Verified Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq 1 dbGAP Illumina HiSeq 6f4de42a-16ce-4536-b5a7-a9380540dda4 c2a59421-c7d4-4b57-a82d-ee675481ba9b 12 25289551 25289551 C A SNP KRAS NM_033360.3 human genbank 54_36p -1 reviewed missense c.35 p.G12V 1.000 HMMSmart_SM00176,HMMSmart_SM00173,HMMSmart_SM00174,HMMSmart_SM00175,HMMPfam_Ras,superfamily_P-loop containing nucleoside triphosphate hydrolases HMMSmart_SM00176,HMMSmart_SM00173,HMMSmart_SM00174,HMMSmart_SM00175,HMMPfam_Ras,superfamily_P-loop containing nucleoside triphosphate hydrolases - no_errors 30 1 3.23 35 15 30.00 18 9 33.33 +LOC642458 0 genome.wustl.edu 37 14 19476106 19476106 + RNA SNP G G A TCGA-AB-2861-03B-01W-0728-08 TCGA-AB-2861-11B-01W-0729-08 G G G A G G Verified Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq 1 dbGAP Illumina HiSeq 6f4de42a-16ce-4536-b5a7-a9380540dda4 c2a59421-c7d4-4b57-a82d-ee675481ba9b 14 18546106 18546106 G A SNP LOC642458 XR_016116.2 human genbank 54_36p -1 model rna NULL NULL 0.986 - - - pseudogene 156 2 1.27 162 23 12.43 0 1 100.00 +MEFV 0 genome.wustl.edu 37 16 3294587 3294587 + Missense_Mutation SNP C C T TCGA-AB-2861-03B-01W-0728-08 TCGA-AB-2861-11B-01W-0729-08 C C C T C C Verified Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq 1 dbGAP Illumina HiSeq 6f4de42a-16ce-4536-b5a7-a9380540dda4 c2a59421-c7d4-4b57-a82d-ee675481ba9b 16 3234588 3234588 C T SNP MEFV NM_000243.2 human genbank 54_36p -1 reviewed missense c.1612 p.A538T 0.911 NULL HMMPfam_zf-B_box,HMMSmart_SM00336,HMMPfam_SPRY,HMMPfam_PAAD_DAPIN,HMMSmart_SM00589,superfamily_DEATH domain,HMMSmart_SM00449,superfamily_B-box zinc-binding domain - no_errors 205 15 6.82 22 31 58.49 10 5 33.33 +NOMO2 0 genome.wustl.edu 37 16 18532148 18532148 + Missense_Mutation SNP C C T TCGA-AB-2861-03B-01W-0728-08 TCGA-AB-2861-11B-01W-0729-08 C C C T C C Verified Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq 1 dbGAP Illumina HiSeq 6f4de42a-16ce-4536-b5a7-a9380540dda4 c2a59421-c7d4-4b57-a82d-ee675481ba9b 16 18439649 18439649 C T SNP NOMO2 NM_001004060.1 human genbank 54_36p -1 reviewed missense c.2212 p.V738M 0.986 NULL HMMPfam_Cna_B,superfamily_Carboxypeptidase regulatory domain,superfamily_Starch-binding domain-like - no_errors 517 24 4.42 97 35 26.52 65 48 42.48 +CACNG1 0 genome.wustl.edu 37 17 65040806 65040806 + Silent SNP C C T TCGA-AB-2861-03B-01W-0728-08 TCGA-AB-2861-11B-01W-0729-08 C C C T C C Verified Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq 1 dbGAP Illumina HiSeq 6f4de42a-16ce-4536-b5a7-a9380540dda4 c2a59421-c7d4-4b57-a82d-ee675481ba9b 17 62471268 62471268 C T SNP CACNG1 NM_000727.2 human genbank 54_36p +1 reviewed silent c.30 p.R10 0.962 HMMPfam_PMP22_Claudin HMMPfam_PMP22_Claudin - no_errors 118 8 6.35 8 8 50.00 NA NA NA +KATNAL2 0 genome.wustl.edu 37 18 44625704 44625704 + Missense_Mutation SNP C C A TCGA-AB-2861-03B-01W-0728-08 TCGA-AB-2861-11B-01W-0729-08 C C C A C C Verified Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq 1 dbGAP Illumina HiSeq 6f4de42a-16ce-4536-b5a7-a9380540dda4 c2a59421-c7d4-4b57-a82d-ee675481ba9b 18 42879702 42879702 C A SNP KATNAL2 NM_031303.1 human genbank 54_36p +1 provisional missense c.1086 p.H362Q 0.999 HMMPfam_AAA,superfamily_SSF52540 HMMSmart_AAA,HMMPfam_AAA,superfamily_SSF52540 - no_errors 223 2 0.89 39 34 46.58 3 0 0.00 +WDR87 0 genome.wustl.edu 37 19 38384123 38384123 + Silent SNP A A T TCGA-AB-2861-03B-01W-0728-08 TCGA-AB-2861-11B-01W-0729-08 A A A T A A Verified Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq 1 dbGAP Illumina HiSeq 6f4de42a-16ce-4536-b5a7-a9380540dda4 c2a59421-c7d4-4b57-a82d-ee675481ba9b 19 43075963 43075963 A T SNP WDR87 ENST00000303868 human ensembl 54_36p -1 known silent c.2103 p.I701 1.000 NULL HMMSmart_SM00320,superfamily_WD40 repeat-like,PatternScan_C_TYPE_LECTIN_1,HMMPfam_WD40 - no_stop_codon 535 17 3.07 75 62 45.26 NA NA NA +GRWD1 0 genome.wustl.edu 37 19 48954396 48954396 + Missense_Mutation SNP G G A TCGA-AB-2861-03B-01W-0728-08 TCGA-AB-2861-11B-01W-0729-08 G G G A G G Verified Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq 1 dbGAP Illumina HiSeq 6f4de42a-16ce-4536-b5a7-a9380540dda4 c2a59421-c7d4-4b57-a82d-ee675481ba9b 19 53646208 53646208 G A SNP GRWD1 NM_031485.2 human genbank 54_36p +1 provisional missense c.931 p.V311I 0.990 HMMSmart_SM00320,superfamily_WD40 repeat-like,HMMPfam_WD40 HMMSmart_SM00320,superfamily_WD40 repeat-like,PatternScan_WD_REPEATS_1,HMMPfam_WD40 - no_errors 122 0 0.00 21 7 25.00 48 22 31.43 +U2AF1 0 genome.wustl.edu 37 21 44524456 44524456 + Missense_Mutation SNP G G T TCGA-AB-2861-03B-01W-0728-08 TCGA-AB-2861-11B-01W-0729-08 G G G T G G Verified Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq 1 dbGAP Illumina HiSeq 6f4de42a-16ce-4536-b5a7-a9380540dda4 c2a59421-c7d4-4b57-a82d-ee675481ba9b 21 43397525 43397525 G T SNP U2AF1 NM_001025203.1 human genbank 54_36p -1 reviewed missense c.101 p.S34Y 1.000 HMMPfam_zf-CCCH,HMMSmart_ZnF_C3H1 HMMPfam_RRM_1,HMMSmart_RRM,HMMPfam_zf-CCCH,HMMSmart_ZnF_C3H1,superfamily_SSF54928 - no_errors 175 5 2.76 15 8 33.33 103 113 52.31 +NPM1 0 genome.wustl.edu 37 5 170837543 170837544 + Frame_Shift_Ins INS - - TCTG TCGA-AB-2861-03B-01W-0728-08 TCGA-AB-2861-11B-01W-0729-08 - - - TCTG - - Verified Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq 1 dbGAP Illumina HiSeq 6f4de42a-16ce-4536-b5a7-a9380540dda4 c2a59421-c7d4-4b57-a82d-ee675481ba9b 5 170770148 170770149 - TCTG INS NPM1 NM_002520.1 human genbank 54_36p +1 validated frame_shift_ins c.859_860 p.W288fs 1.000:1.000 NULL HMMPfam_Nucleoplasmin,superfamily_Nucleoplasmin-like core domain - no_errors NA NA NA NA NA NA NA NA NA +TCEANC 0 genome.wustl.edu 37 X 13680763 13680763 + Missense_Mutation SNP A A G TCGA-AB-2862-03B-01W-0728-08 TCGA-AB-2862-11B-01W-0729-08 A A A G A A Verified Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq 1 dbGAP Illumina HiSeq 2907d873-3189-4bbb-9c40-127d61225086 a8d14ea2-aa95-48c9-8c69-86b8ac62489a X 13590684 13590684 A G SNP TCEANC NM_152634.2 human genbank 54_36p +1 validated missense c.226 p.T76A 1.000 HMMPfam_TFIIS,superfamily_Conserved domain common to transcription factors TFIIS elongin A CRSP70 HMMPfam_TFIIS_M,superfamily_Elongation factor TFIIS domain 2,HMMPfam_TFIIS,superfamily_Conserved domain common to transcription factors TFIIS elongin A CRSP70,HMMSmart_SM00510,superfamily_Zinc beta-ribbon - no_errors 179 0 0.00 107 57 34.13 5 0 0.00 +BCAR3 0 genome.wustl.edu 37 1 94048128 94048128 + Silent SNP G G A TCGA-AB-2862-03B-01W-0728-08 TCGA-AB-2862-11B-01W-0729-08 G G G A G G Verified Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq 1 dbGAP Illumina HiSeq 2907d873-3189-4bbb-9c40-127d61225086 a8d14ea2-aa95-48c9-8c69-86b8ac62489a 1 93820716 93820716 G A SNP BCAR3 NM_003567.2 human genbank 54_36p -1 reviewed silent c.1416 p.G472 0.782 superfamily_Ras GEF HMMPfam_SH2,HMMSmart_SM00252,HMMSmart_SM00147,superfamily_Ras GEF - no_errors 150 0 0.00 97 59 37.58 1 0 0.00 +DRD5P1 0 genome.wustl.edu 37 2 91873695 91873695 + Missense_Mutation SNP C C T TCGA-AB-2862-03B-01W-0728-08 TCGA-AB-2862-11B-01W-0729-08 C C C T C C Verified Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq 1 dbGAP Illumina HiSeq 2907d873-3189-4bbb-9c40-127d61225086 a8d14ea2-aa95-48c9-8c69-86b8ac62489a 2 91237422 91237422 C T SNP DRD5P1 ENST00000328341 human ensembl 54_36p -1 known missense c.215 p.R72H 1.000 HMMPfam_7tm_1,superfamily_SSF81321 HMMPfam_7tm_1,superfamily_SSF81321 - no_errors 81 0 0.00 61 34 35.79 NA NA NA +ADCY5 0 genome.wustl.edu 37 3 123071312 123071312 + Silent SNP C C T TCGA-AB-2862-03B-01W-0728-08 TCGA-AB-2862-11B-01W-0729-08 C C C T C C Verified Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq 1 dbGAP Illumina HiSeq 2907d873-3189-4bbb-9c40-127d61225086 a8d14ea2-aa95-48c9-8c69-86b8ac62489a 3 124554002 124554002 C T SNP ADCY5 NM_183357.1 human genbank 54_36p -1 validated silent c.1251 p.A417 0.445 NULL HMMPfam_Guanylate_cyc,HMMSmart_CYCc,superfamily_A/G_cyclase,HMMPfam_DUF1053,PatternScan_GUANYLATE_CYCLASE_1 - no_errors 257 1 0.39 52 41 43.16 NA NA NA +EYA4 0 genome.wustl.edu 37 6 133789862 133789862 + Missense_Mutation SNP C C A TCGA-AB-2862-03B-01W-0728-08 TCGA-AB-2862-11B-01W-0729-08 C C C A C C Verified Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq 1 dbGAP Illumina HiSeq 2907d873-3189-4bbb-9c40-127d61225086 a8d14ea2-aa95-48c9-8c69-86b8ac62489a 6 133831555 133831555 C A SNP EYA4 NM_004100.4 human genbank 54_36p +1 reviewed missense c.963 p.N321K 0.993 NULL HMMPfam_Hydrolase - no_errors 235 0 0.00 117 102 46.15 NA NA NA +HECW1 0 genome.wustl.edu 37 7 43547679 43547679 + Missense_Mutation SNP G G A TCGA-AB-2862-03B-01W-0728-08 TCGA-AB-2862-11B-01W-0729-08 G G G A G G Verified Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq 1 dbGAP Illumina HiSeq 2907d873-3189-4bbb-9c40-127d61225086 a8d14ea2-aa95-48c9-8c69-86b8ac62489a 7 43514204 43514204 G A SNP HECW1 NM_015052.3 human genbank 54_36p +1 validated missense c.3815 p.R1272Q 1.000 HMMSmart_HECTc,superfamily_HECT HMMPfam_C2,HMMSmart_C2,HMMPfam_HECT,HMMSmart_HECTc,superfamily_HECT,HMMPfam_WW,HMMSmart_WW,PatternScan_WW_DOMAIN_1,superfamily_WW_Rsp5_WWP,superfamily_C2_CaLB - no_errors 303 0 0.00 115 83 41.50 NA NA NA +HSD17B7P2 0 genome.wustl.edu 37 10 38645312 38645312 + RNA SNP C C T TCGA-AB-2862-03B-01W-0728-08 TCGA-AB-2862-11B-01W-0729-08 C C C T C C Verified Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq 1 dbGAP Illumina HiSeq 2907d873-3189-4bbb-9c40-127d61225086 a8d14ea2-aa95-48c9-8c69-86b8ac62489a 10 38685318 38685318 C T SNP HSD17B7P2 NR_003086.1 human genbank 54_36p +1 provisional rna NULL NULL 0.033 - - - pseudogene 775 38 4.67 95 56 36.84 1 0 0.00 +TCERG1L 0 genome.wustl.edu 37 10 132891487 132891487 + Missense_Mutation SNP A A G TCGA-AB-2862-03B-01W-0728-08 TCGA-AB-2862-11B-01W-0729-08 A A A G A A Verified Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq 1 dbGAP Illumina HiSeq 2907d873-3189-4bbb-9c40-127d61225086 a8d14ea2-aa95-48c9-8c69-86b8ac62489a 10 132781477 132781477 A G SNP TCERG1L NM_174937.3 human genbank 54_36p -1 validated missense c.1699 p.F567L 1.000 HMMPfam_FF,HMMSmart_FF,superfamily_FF HMMPfam_WW,HMMSmart_WW,PatternScan_WW_DOMAIN_1,superfamily_WW_Rsp5_WWP,HMMPfam_FF,HMMSmart_FF,superfamily_FF - no_errors 255 0 0.00 132 86 39.27 NA NA NA +FAM214A 0 genome.wustl.edu 37 15 52885895 52885895 + Silent SNP A A G TCGA-AB-2862-03B-01W-0728-08 TCGA-AB-2862-11B-01W-0729-08 A A A G A A Verified Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq 1 dbGAP Illumina HiSeq 2907d873-3189-4bbb-9c40-127d61225086 a8d14ea2-aa95-48c9-8c69-86b8ac62489a 15 50673187 50673187 A G SNP KIAA1370 NM_019600.2 human genbank 54_36p -1 validated silent c.2688 p.I896 0.992 NULL NULL - no_errors 113 0 0.00 89 43 31.62 14 10 41.67 +AKAP13 0 genome.wustl.edu 37 15 86118413 86118413 + Silent SNP G G A TCGA-AB-2862-03B-01W-0728-08 TCGA-AB-2862-11B-01W-0729-08 G G G A G G Verified Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq 1 dbGAP Illumina HiSeq 2907d873-3189-4bbb-9c40-127d61225086 a8d14ea2-aa95-48c9-8c69-86b8ac62489a 15 83919417 83919417 G A SNP AKAP13 NM_006738.4 human genbank 54_36p +1 reviewed silent c.714 p.P238 0.233 NULL HMMPfam_RhoGEF,HMMSmart_RhoGEF,superfamily_DH-domain,HMMPfam_PH,HMMSmart_PH,superfamily_ANK,HMMPfam_C1_1,HMMSmart_C1,PatternScan_ZF_DAG_PE_1,PatternScan_EF_HAND_1,HMMPfam_RII_binding_1,superfamily_SSF50729,superfamily_SSF57889 - no_errors 202 0 0.00 145 89 37.55 4 2 33.33 +C17orf97 0 genome.wustl.edu 37 17 263592 263592 + Missense_Mutation SNP G G A TCGA-AB-2862-03B-01W-0728-08 TCGA-AB-2862-11B-01W-0729-08 G G G A G G Verified Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq 1 dbGAP Illumina HiSeq 2907d873-3189-4bbb-9c40-127d61225086 a8d14ea2-aa95-48c9-8c69-86b8ac62489a 17 263938 263938 G A SNP C17orf97 NM_001013672.3 human genbank 54_36p +1 validated missense c.988 p.E330K 0.000 NULL NULL - no_errors 32 1 3.03 19 7 26.92 6 0 0.00 +CSH2 0 genome.wustl.edu 37 17 61950048 61950048 + Silent SNP G G A TCGA-AB-2862-03B-01W-0728-08 TCGA-AB-2862-11B-01W-0729-08 G G G A G G Verified Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq 1 dbGAP Illumina HiSeq 2907d873-3189-4bbb-9c40-127d61225086 a8d14ea2-aa95-48c9-8c69-86b8ac62489a 17 59303780 59303780 G A SNP CSH2 NM_020991.3 human genbank 54_36p -1 reviewed silent c.345 p.P115 0.987 HMMPfam_Hormone_1,superfamily_4-helical cytokines HMMPfam_Hormone_1,superfamily_4-helical cytokines,PatternScan_SOMATOTROPIN_1,PatternScan_SOMATOTROPIN_2 - no_errors 99 0 0.00 50 11 18.03 NA NA NA +NCCRP1 0 genome.wustl.edu 37 19 39691373 39691373 + Missense_Mutation SNP G G A TCGA-AB-2862-03B-01W-0728-08 TCGA-AB-2862-11B-01W-0729-08 G G G A G G Verified Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq 1 dbGAP Illumina HiSeq 2907d873-3189-4bbb-9c40-127d61225086 a8d14ea2-aa95-48c9-8c69-86b8ac62489a 19 44383213 44383213 G A SNP NCCRP1 NM_001001414.1 human genbank 54_36p +1 provisional missense c.805 p.V269M 1.000 HMMPfam_FBA,superfamily_Gal_bind_like HMMPfam_FBA,superfamily_Gal_bind_like - no_errors 86 0 0.00 48 30 38.46 NA NA NA +ARFGEF2 0 genome.wustl.edu 37 20 47589698 47589698 + Silent SNP G G A TCGA-AB-2862-03B-01W-0728-08 TCGA-AB-2862-11B-01W-0729-08 G G G A G G Verified Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq 1 dbGAP Illumina HiSeq 2907d873-3189-4bbb-9c40-127d61225086 a8d14ea2-aa95-48c9-8c69-86b8ac62489a 20 47023105 47023105 G A SNP ARFGEF2 NM_006420.2 human genbank 54_36p +1 reviewed silent c.1542 p.V514 1.000 superfamily_ARM-type_fold HMMPfam_Sec7,HMMSmart_Sec7,superfamily_Sec7,HMMPfam_DUF1981,superfamily_ARM-type_fold - no_errors 134 0 0.00 104 69 39.43 11 0 0.00 +DNMT3A 0 genome.wustl.edu 37 2 25457242 25457242 + Missense_Mutation SNP C C T TCGA-AB-2863-03D-01W-0755-09 TCGA-AB-2863-11D-01W-0755-09 C C C T C C Verified Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq 1 dbGAP Illumina HiSeq d4ba0ac2-9d98-430b-bb0d-e1bada2d5486 0f0f4ffb-a917-42d4-b1dd-15841726f923 2 25310746 25310746 C T SNP DNMT3A NM_022552.3 human genbank 54_36p -1 reviewed missense c.2645 p.R882H 1.000 superfamily_S-adenosyl-L-methionine-dependent methyltransferases HMMPfam_PWWP,HMMSmart_SM00293,HMMPfam_DNA_methylase,superfamily_FYVE/PHD zinc finger,PatternScan_C5_MTASE_1,superfamily_S-adenosyl-L-methionine-dependent methyltransferases,superfamily_Tudor/PWWP/MBT - no_errors 149 20 11.83 89 80 47.34 21 27 55.10 +FAM176A 0 genome.wustl.edu 37 2 75720722 75720722 + Silent SNP T T C TCGA-AB-2863-03D-01W-0755-09 TCGA-AB-2863-11D-01W-0755-09 T T T C T T Verified Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq 1 dbGAP Illumina HiSeq d4ba0ac2-9d98-430b-bb0d-e1bada2d5486 0f0f4ffb-a917-42d4-b1dd-15841726f923 2 75574230 75574230 T C SNP FAM176A NM_032181.1 human genbank 54_36p -1 validated silent c.99 p.R33 0.991 NULL NULL - no_errors 122 16 11.51 141 109 42.75 NA NA NA +IDH1 0 genome.wustl.edu 37 2 209113113 209113113 + Missense_Mutation SNP G G A rs121913499 TCGA-AB-2863-03D-01W-0755-09 TCGA-AB-2863-11D-01W-0755-09 G G G A G G Verified Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq 1 dbGAP Illumina HiSeq d4ba0ac2-9d98-430b-bb0d-e1bada2d5486 0f0f4ffb-a917-42d4-b1dd-15841726f923 2 208821358 208821358 G A SNP IDH1 NM_005896.2 human genbank 54_36p -1 reviewed missense c.394 p.R132C 1.000 HMMPfam_Iso_dh,superfamily_Isocitrate/Isopropylmalate dehydrogenase-like HMMPfam_Iso_dh,PatternScan_IDH_IMDH,superfamily_Isocitrate/Isopropylmalate dehydrogenase-like - no_errors 67 12 15.00 63 57 47.11 73 80 52.29 +FN1 0 genome.wustl.edu 37 2 216238072 216238072 + Nonsense_Mutation SNP C C A TCGA-AB-2863-03D-01W-0755-09 TCGA-AB-2863-11D-01W-0755-09 C C C A C C Verified Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq 1 dbGAP Illumina HiSeq d4ba0ac2-9d98-430b-bb0d-e1bada2d5486 0f0f4ffb-a917-42d4-b1dd-15841726f923 2 215946317 215946317 C A SNP FN1 NM_212482.2 human genbank 54_36p -1 reviewed nonsense c.6220 p.E2074* 1.000 HMMSmart_SM00060,superfamily_Fibronectin type III HMMPfam_fn1,HMMSmart_SM00058,PatternScan_FN1_1,HMMPfam_fn2,HMMSmart_SM00059,PatternScan_FN2_1,HMMPfam_fn3,HMMSmart_SM00060,superfamily_Fibronectin type III,PatternScan_EGF_1,superfamily_Kringle-like,PatternScan_ALDEHYDE_DEHYDR_GLU,superfamily_Fibronectin type I module - no_errors 432 54 11.02 143 101 40.89 1 1 50.00 +ZMYND10 0 genome.wustl.edu 37 3 50380814 50380814 + Missense_Mutation SNP A A C TCGA-AB-2863-03D-01W-0755-09 TCGA-AB-2863-11D-01W-0755-09 A A A C A A Verified Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq 1 dbGAP Illumina HiSeq d4ba0ac2-9d98-430b-bb0d-e1bada2d5486 0f0f4ffb-a917-42d4-b1dd-15841726f923 3 50355818 50355818 A C SNP ZMYND10 NM_015896.2 human genbank 54_36p -1 validated missense c.434 p.L145R 1.000 NULL HMMPfam_zf-MYND,PatternScan_ZF_MYND_1 - no_errors 123 9 6.82 68 48 40.34 0 2 100.00 +HCLS1 0 genome.wustl.edu 37 3 121377178 121377178 + Missense_Mutation SNP A A C TCGA-AB-2863-03D-01W-0755-09 TCGA-AB-2863-11D-01W-0755-09 A A A C A A Verified Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq 1 dbGAP Illumina HiSeq d4ba0ac2-9d98-430b-bb0d-e1bada2d5486 0f0f4ffb-a917-42d4-b1dd-15841726f923 3 122859868 122859868 A C SNP HCLS1 NM_005335.4 human genbank 54_36p -1 validated missense c.17 p.V6G 1.000 NULL HMMPfam_SH3_1,HMMSmart_SM00326,superfamily_SH3-domain,HMMPfam_HS1_rep - no_errors 376 28 6.86 181 125 40.72 54 27 33.33 +MCHR2 0 genome.wustl.edu 37 6 100390958 100390958 + Missense_Mutation SNP G G A TCGA-AB-2863-03D-01W-0755-09 TCGA-AB-2863-11D-01W-0755-09 G G G A G G Verified Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq 1 dbGAP Illumina HiSeq d4ba0ac2-9d98-430b-bb0d-e1bada2d5486 0f0f4ffb-a917-42d4-b1dd-15841726f923 6 100497679 100497679 G A SNP MCHR2 NM_001040179.1 human genbank 54_36p -1 validated missense c.454 p.R152W 0.979 HMMPfam_7tm_1,superfamily_SSF81321 HMMPfam_7tm_1,PatternScan_G_PROTEIN_RECEP_F1_1,superfamily_SSF81321 - no_errors 164 16 8.89 82 73 46.79 NA NA NA +EGFR 0 genome.wustl.edu 37 7 55273099 55273099 + Missense_Mutation SNP C C G TCGA-AB-2863-03D-01W-0755-09 TCGA-AB-2863-11D-01W-0755-09 C C C G C C Verified Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq 1 dbGAP Illumina HiSeq d4ba0ac2-9d98-430b-bb0d-e1bada2d5486 0f0f4ffb-a917-42d4-b1dd-15841726f923 7 55240593 55240593 C G SNP EGFR NM_005228.3 human genbank 54_36p +1 reviewed missense c.3422 p.T1141S 0.763 NULL HMMPfam_Recep_L_domain,HMMPfam_Pkinase_Tyr,HMMSmart_SM00219,HMMSmart_SM00220,HMMPfam_Furin-like,HMMSmart_SM00261,PatternScan_PROTEIN_KINASE_TYR,superfamily_Growth factor receptor domain,superfamily_Protein kinase-like (PK-like),PatternScan_PROTEIN_KINASE_ATP,superfamily_L domain-like - no_errors 269 27 9.06 107 64 36.99 NA NA NA +RAB11FIP1 0 genome.wustl.edu 37 8 37732412 37732412 + Missense_Mutation SNP C C T TCGA-AB-2863-03D-01W-0755-09 TCGA-AB-2863-11D-01W-0755-09 C C C T C C Verified Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq 1 dbGAP Illumina HiSeq d4ba0ac2-9d98-430b-bb0d-e1bada2d5486 0f0f4ffb-a917-42d4-b1dd-15841726f923 8 37851570 37851570 C T SNP RAB11FIP1 NM_001002814.1 human genbank 54_36p -1 validated missense c.1243 p.A415T 0.003 NULL HMMPfam_C2,HMMSmart_SM00239,superfamily_C2 domain (Calcium/lipid-binding domain CaLB),HMMPfam_RBD-FIP - no_errors 502 37 6.81 372 123 24.60 34 18 34.62 +MTA2 0 genome.wustl.edu 37 11 62364143 62364143 + Missense_Mutation SNP T T C TCGA-AB-2863-03D-01W-0755-09 TCGA-AB-2863-11D-01W-0755-09 T T T C T T Verified Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq 1 dbGAP Illumina HiSeq d4ba0ac2-9d98-430b-bb0d-e1bada2d5486 0f0f4ffb-a917-42d4-b1dd-15841726f923 11 62120719 62120719 T C SNP MTA2 NM_004739.2 human genbank 54_36p -1 reviewed missense c.848 p.Y283C 1.000 HMMSmart_SANT,HMMPfam_Myb_DNA-binding HMMPfam_GATA,HMMSmart_ZnF_GATA,PatternScan_GATA_ZN_FINGER_1,HMMPfam_ELM2,HMMSmart_SANT,HMMPfam_BAH,HMMSmart_BAH,HMMPfam_Myb_DNA-binding,superfamily_SSF57716 - no_errors 812 70 7.88 136 102 42.50 77 63 45.00 +CCDC67 0 genome.wustl.edu 37 11 93127747 93127747 + Silent SNP A A G TCGA-AB-2863-03D-01W-0755-09 TCGA-AB-2863-11D-01W-0755-09 A A A G A A Verified Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq 1 dbGAP Illumina HiSeq d4ba0ac2-9d98-430b-bb0d-e1bada2d5486 0f0f4ffb-a917-42d4-b1dd-15841726f923 11 92767395 92767395 A G SNP CCDC67 NM_181645.3 human genbank 54_36p +1 validated silent c.1164 p.T388 1.000 NULL NULL - no_errors 121 13 9.70 91 68 42.50 NA NA NA +SMAD9 0 genome.wustl.edu 37 13 37446969 37446969 + Missense_Mutation SNP G G A TCGA-AB-2863-03D-01W-0755-09 TCGA-AB-2863-11D-01W-0755-09 G G G A G G Verified Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq 1 dbGAP Illumina HiSeq d4ba0ac2-9d98-430b-bb0d-e1bada2d5486 0f0f4ffb-a917-42d4-b1dd-15841726f923 13 36344969 36344969 G A SNP SMAD9 NM_005905.1 human genbank 54_36p -1 validated missense c.496 p.H166Y 1.000 NULL HMMPfam_MH2,HMMSmart_SM00524,HMMPfam_MH1,HMMSmart_SM00523,superfamily_SMAD/FHA domain,superfamily_SMAD MH1 domain - no_errors 510 0 0.00 315 54 14.56 NA NA NA +SLCO3A1 0 genome.wustl.edu 37 15 92671620 92671620 + Missense_Mutation SNP C C G TCGA-AB-2863-03D-01W-0755-09 TCGA-AB-2863-11D-01W-0755-09 C C C G C C Verified Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq 1 dbGAP Illumina HiSeq d4ba0ac2-9d98-430b-bb0d-e1bada2d5486 0f0f4ffb-a917-42d4-b1dd-15841726f923 15 90472624 90472624 C G SNP SLCO3A1 NM_013272.1 human genbank 54_36p +1 validated missense c.1413 p.C471W 1.000 HMMPfam_OATP,HMMPfam_Kazal_2,superfamily_MFS general substrate transporter,superfamily_Kazal-type serine protease inhibitors HMMPfam_OATP,HMMPfam_Kazal_2,superfamily_MFS general substrate transporter,superfamily_Kazal-type serine protease inhibitors - no_errors 626 69 9.87 254 218 45.51 32 29 47.54 +GPRC5B 0 genome.wustl.edu 37 16 19883344 19883344 + Missense_Mutation SNP G G A TCGA-AB-2863-03D-01W-0755-09 TCGA-AB-2863-11D-01W-0755-09 G G G A G G Verified Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq 1 dbGAP Illumina HiSeq d4ba0ac2-9d98-430b-bb0d-e1bada2d5486 0f0f4ffb-a917-42d4-b1dd-15841726f923 16 19790845 19790845 G A SNP GPRC5B NM_016235.1 human genbank 54_36p -1 reviewed missense c.824 p.T275M 1.000 HMMPfam_7tm_3 HMMPfam_7tm_3,PatternScan_G_PROTEIN_RECEP_F3_1,PatternScan_G_PROTEIN_RECEP_F3_2,PatternScan_G_PROTEIN_RECEP_F3_3 - no_errors 220 12 5.11 92 82 46.86 NA NA NA +RNF213 0 genome.wustl.edu 37 17 78320603 78320603 + Missense_Mutation SNP G G A TCGA-AB-2863-03D-01W-0755-09 TCGA-AB-2863-11D-01W-0755-09 G G G A G G Verified Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq 1 dbGAP Illumina HiSeq d4ba0ac2-9d98-430b-bb0d-e1bada2d5486 0f0f4ffb-a917-42d4-b1dd-15841726f923 17 75935198 75935198 G A SNP RNF213 NM_020914.3 human genbank 54_36p +1 validated missense c.2687 p.R896Q 0.996 HMMSmart_SM00382,superfamily_P-loop containing nucleoside triphosphate hydrolases HMMSmart_SM00184,HMMSmart_SM00382,HMMPfam_zf-C3HC4,superfamily_P-loop containing nucleoside triphosphate hydrolases,superfamily_RING/U-box - no_errors 77 10 11.36 45 37 44.58 25 37 59.68 +FKBP8 0 genome.wustl.edu 37 19 18652593 18652593 + Missense_Mutation SNP G G A TCGA-AB-2863-03D-01W-0755-09 TCGA-AB-2863-11D-01W-0755-09 G G G A G G Verified Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq 1 dbGAP Illumina HiSeq d4ba0ac2-9d98-430b-bb0d-e1bada2d5486 0f0f4ffb-a917-42d4-b1dd-15841726f923 19 18513593 18513593 G A SNP FKBP8 NM_012181.3 human genbank 54_36p -1 reviewed missense c.188 p.A63V 0.000 NULL HMMPfam_FKBP_C,HMMPfam_TPR_1,superfamily_SSF48452,superfamily_SSF54534 - no_errors 96 9 8.49 37 24 39.34 43 52 54.17 +SLPI 0 genome.wustl.edu 37 20 43881786 43881786 + Missense_Mutation SNP C C T TCGA-AB-2863-03D-01W-0755-09 TCGA-AB-2863-11D-01W-0755-09 C C C T C C Verified Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq 1 dbGAP Illumina HiSeq d4ba0ac2-9d98-430b-bb0d-e1bada2d5486 0f0f4ffb-a917-42d4-b1dd-15841726f923 20 43315200 43315200 C T SNP SLPI NM_003064.2 human genbank 54_36p -1 reviewed missense c.251 p.R84K 0.002 superfamily_Elafin-like HMMPfam_WAP,HMMSmart_SM00217,superfamily_Elafin-like,PatternScan_4_DISULFIDE_CORE - no_errors 229 22 8.76 128 112 46.67 NA NA NA +CEBPA 0 genome.wustl.edu 37 19 33792368 33792370 + In_Frame_Del DEL GTC GTC - TCGA-AB-2863-03D-01W-0755-09 TCGA-AB-2863-11D-01W-0755-09 GTC GTC GTC - GTC GTC Verified Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq 1 dbGAP Illumina HiSeq d4ba0ac2-9d98-430b-bb0d-e1bada2d5486 0f0f4ffb-a917-42d4-b1dd-15841726f923 19 38484208 38484210 GTC - DEL CEBPA NM_004364.3 human genbank 54_36p -1 reviewed in_frame_del c.953_951 p.T318in_frame_del 0.992:0.993:0.994 HMMSmart_BRLZ,HMMPfam_bZIP_2 HMMSmart_BRLZ,PatternScan_BZIP_BASIC,HMMPfam_bZIP_2 - no_errors 0 1 3.45 0 7 25.93 0 32 45.71 +CASZ1 0 genome.wustl.edu 37 1 10715798 10715798 + Missense_Mutation SNP C C T TCGA-AB-2864-03D-01W-0755-09 TCGA-AB-2864-11D-01W-0755-09 C C C T C C Verified Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq 1 dbGAP Illumina HiSeq 07f07406-597d-40b7-b218-ef40aad6f0bc d1360466-cb4c-4fea-9ac9-f029dc199e94 1 10638385 10638385 C T SNP CASZ1 NM_001079843.1 human genbank 54_36p -1 validated missense c.1573 p.G525S 1.000 NULL PatternScan_ZINC_FINGER_C2H2_1,HMMSmart_SM00355,superfamily_C2H2 and C2HC zinc fingers - no_errors 30 0 0.00 67 45 40.18 NA NA NA +SLC6A9 0 genome.wustl.edu 37 1 44468623 44468623 + Missense_Mutation SNP T T A TCGA-AB-2864-03D-01W-0755-09 TCGA-AB-2864-11D-01W-0755-09 T T T A T T Verified Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq 1 dbGAP Illumina HiSeq 07f07406-597d-40b7-b218-ef40aad6f0bc d1360466-cb4c-4fea-9ac9-f029dc199e94 1 44241210 44241210 T A SNP SLC6A9 NM_201649.1 human genbank 54_36p -1 validated missense c.844 p.N282Y 0.955 HMMPfam_SNF HMMPfam_SNF,PatternScan_NA_NEUROTRAN_SYMP_1,PatternScan_NA_NEUROTRAN_SYMP_2 - no_errors 67 0 0.00 68 41 36.61 NA NA NA +DNMT3A 0 genome.wustl.edu 37 2 25457242 25457242 + Missense_Mutation SNP C C T TCGA-AB-2864-03D-01W-0755-09 TCGA-AB-2864-11D-01W-0755-09 C C C T C C Verified Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq 1 dbGAP Illumina HiSeq 07f07406-597d-40b7-b218-ef40aad6f0bc d1360466-cb4c-4fea-9ac9-f029dc199e94 2 25310746 25310746 C T SNP DNMT3A NM_022552.3 human genbank 54_36p -1 reviewed missense c.2645 p.R882H 1.000 superfamily_S-adenosyl-L-methionine-dependent methyltransferases HMMPfam_PWWP,HMMSmart_SM00293,HMMPfam_DNA_methylase,superfamily_FYVE/PHD zinc finger,PatternScan_C5_MTASE_1,superfamily_S-adenosyl-L-methionine-dependent methyltransferases,superfamily_Tudor/PWWP/MBT - no_errors 178 5 2.72 63 64 50.00 NA NA NA +ATP13A5 0 genome.wustl.edu 37 3 193028481 193028481 + Missense_Mutation SNP G G C TCGA-AB-2864-03D-01W-0755-09 TCGA-AB-2864-11D-01W-0755-09 G G G C G G Verified Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq 1 dbGAP Illumina HiSeq 07f07406-597d-40b7-b218-ef40aad6f0bc d1360466-cb4c-4fea-9ac9-f029dc199e94 3 194511175 194511175 G C SNP ATP13A5 NM_198505.2 human genbank 54_36p -1 provisional missense c.2471 p.A824G 1.000 superfamily_SSF56784,superfamily_SSF81665 HMMPfam_Cation_ATPase_N,HMMPfam_E1-E2_ATPase,PatternScan_ATPASE_E1_E2,superfamily_SSF56784,superfamily_SSF81653,superfamily_SSF81660,superfamily_SSF81665 - no_errors 157 1 0.62 123 102 45.13 NA NA NA +PCDHA13 0 genome.wustl.edu 37 5 140264046 140264046 + Silent SNP G G A TCGA-AB-2864-03D-01W-0755-09 TCGA-AB-2864-11D-01W-0755-09 G G G A G G Verified Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq 1 dbGAP Illumina HiSeq 07f07406-597d-40b7-b218-ef40aad6f0bc d1360466-cb4c-4fea-9ac9-f029dc199e94 5 140244230 140244230 G A SNP PCDHA13 NM_018904.2 human genbank 54_36p +1 reviewed silent c.2193 p.A731 0.239 NULL HMMPfam_Cadherin,HMMSmart_SM00112,PatternScan_CADHERIN_1,HMMPfam_Cadherin_2,superfamily_Cadherin-like - no_errors 8 0 0.00 31 26 44.07 NA NA NA +PPP2R2B 0 genome.wustl.edu 37 5 145969731 145969731 + Missense_Mutation SNP G G A TCGA-AB-2864-03D-01W-0755-09 TCGA-AB-2864-11D-01W-0755-09 G G G A G G Verified Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq 1 dbGAP Illumina HiSeq 07f07406-597d-40b7-b218-ef40aad6f0bc d1360466-cb4c-4fea-9ac9-f029dc199e94 5 145949924 145949924 G A SNP PPP2R2B NM_181676.1 human genbank 54_36p -1 reviewed missense c.1120 p.R374C 1.000 superfamily_WD40 repeat-like HMMSmart_SM00320,superfamily_WD40 repeat-like,PatternScan_PR55_1,PatternScan_PR55_2,HMMPfam_PP2A_B_N,HMMPfam_PP2A_B_subs_rcg,PatternScan_WD_REPEATS_1 - no_errors 223 0 0.00 171 123 41.14 NA NA NA +C6orf118 0 genome.wustl.edu 37 6 165715653 165715653 + Missense_Mutation SNP C C T TCGA-AB-2864-03D-01W-0755-09 TCGA-AB-2864-11D-01W-0755-09 C C C T C C Verified Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq 1 dbGAP Illumina HiSeq 07f07406-597d-40b7-b218-ef40aad6f0bc d1360466-cb4c-4fea-9ac9-f029dc199e94 6 165635643 165635643 C T SNP C6orf118 NM_144980.3 human genbank 54_36p -1 validated missense c.158 p.R53Q 0.017 NULL NULL - no_errors 49 0 0.00 180 63 25.61 NA NA NA +ASB4 0 genome.wustl.edu 37 7 95115472 95115472 + Splice_Site SNP T T G TCGA-AB-2864-03D-01W-0755-09 TCGA-AB-2864-11D-01W-0755-09 T T T G T T Verified Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq 1 dbGAP Illumina HiSeq 07f07406-597d-40b7-b218-ef40aad6f0bc d1360466-cb4c-4fea-9ac9-f029dc199e94 7 94953408 94953408 T G SNP ASB4 NM_016116.1 human genbank 54_36p +1 reviewed splice_site c.187+2 e1+2 1.000 - - - no_errors 65 0 0.00 109 71 39.23 NA NA NA +PZP 0 genome.wustl.edu 37 12 9311061 9311061 + Silent SNP A A G TCGA-AB-2864-03D-01W-0755-09 TCGA-AB-2864-11D-01W-0755-09 A A A G A A Verified Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq 1 dbGAP Illumina HiSeq 07f07406-597d-40b7-b218-ef40aad6f0bc d1360466-cb4c-4fea-9ac9-f029dc199e94 12 9202328 9202328 A G SNP PZP NM_002864.2 human genbank 54_36p -1 validated silent c.3249 p.N1083 0.998 superfamily_Terpenoid cyclases/Protein prenyltransferases,HMMPfam_A2M_comp HMMPfam_A2M,HMMPfam_A2M_N,superfamily_Terpenoid cyclases/Protein prenyltransferases,HMMPfam_A2M_recep,superfamily_Alpha-macroglobulin receptor domain,PatternScan_TONB_DEPENDENT_REC_1,HMMPfam_A2M_N_2,HMMPfam_A2M_comp,HMMPfam_Thiol-ester_cl,PatternScan_ALPHA_2_MACROGLOBULIN - no_errors 253 8 3.03 242 39 13.83 NA NA NA +KRAS 0 genome.wustl.edu 37 12 25380282 25380282 + Missense_Mutation SNP G G T rs104886029 TCGA-AB-2864-03D-01W-0755-09 TCGA-AB-2864-11D-01W-0755-09 G G G T G G Verified Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq 1 dbGAP Illumina HiSeq 07f07406-597d-40b7-b218-ef40aad6f0bc d1360466-cb4c-4fea-9ac9-f029dc199e94 12 25271549 25271549 G T SNP KRAS NM_033360.3 human genbank 54_36p -1 reviewed missense c.176 p.A59E 1.000 HMMSmart_SM00176,HMMSmart_SM00173,HMMSmart_SM00174,HMMSmart_SM00175,HMMPfam_Ras,superfamily_P-loop containing nucleoside triphosphate hydrolases HMMSmart_SM00176,HMMSmart_SM00173,HMMSmart_SM00174,HMMSmart_SM00175,HMMPfam_Ras,superfamily_P-loop containing nucleoside triphosphate hydrolases - no_errors 83 1 1.16 74 52 40.62 NA NA NA +ANKRD33 0 genome.wustl.edu 37 12 52284913 52284913 + Missense_Mutation SNP C C T TCGA-AB-2864-03D-01W-0755-09 TCGA-AB-2864-11D-01W-0755-09 C C C T C C Verified Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq 1 dbGAP Illumina HiSeq 07f07406-597d-40b7-b218-ef40aad6f0bc d1360466-cb4c-4fea-9ac9-f029dc199e94 12 50571180 50571180 C T SNP ANKRD33 NM_182608.1 human genbank 54_36p +1 validated missense c.1183 p.P395S 0.144 NULL HMMPfam_Ank,HMMSmart_SM00248,superfamily_Ankyrin repeat - no_errors 59 1 1.64 67 63 48.46 NA NA NA +RPL6 0 genome.wustl.edu 37 12 112846412 112846412 + Missense_Mutation SNP C C T TCGA-AB-2864-03D-01W-0755-09 TCGA-AB-2864-11D-01W-0755-09 C C C T C C Verified Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq 1 dbGAP Illumina HiSeq 07f07406-597d-40b7-b218-ef40aad6f0bc d1360466-cb4c-4fea-9ac9-f029dc199e94 12 111330795 111330795 C T SNP RPL6 NM_000970.3 human genbank 54_36p -1 reviewed missense c.49 p.E17K 0.240 NULL HMMPfam_Ribosomal_L6e,PatternScan_RIBOSOMAL_L6E,HMMPfam_Ribosomal_L6e_N - no_errors 74 1 1.32 35 17 32.08 NA NA NA +ENSG00000211894 0 genome.wustl.edu 37 14 106135119 106135119 + Missense_Mutation SNP T T C TCGA-AB-2864-03D-01W-0755-09 TCGA-AB-2864-11D-01W-0755-09 T T T C T T Verified Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq 1 dbGAP Illumina HiSeq 07f07406-597d-40b7-b218-ef40aad6f0bc d1360466-cb4c-4fea-9ac9-f029dc199e94 14 105206164 105206164 T C SNP ENSG00000211894 ENST00000390546 human ensembl 54_36p -1 known missense c.556 p.M186V 0.021 HMMPfam_C1-set,superfamily_SSF48726 PatternScan_IG_MHC,HMMPfam_C1-set,HMMSmart_IGc1,superfamily_SSF48726 - no_start_codon:pseudogene:no_stop_codon:bad_bp_length_for_coding_region 34 0 0.00 43 28 38.89 NA NA NA +IDH2 0 genome.wustl.edu 37 15 90631838 90631838 + Missense_Mutation SNP C C T rs121913503 TCGA-AB-2864-03D-01W-0755-09 TCGA-AB-2864-11D-01W-0755-09 C C C T C C Verified Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq 1 dbGAP Illumina HiSeq 07f07406-597d-40b7-b218-ef40aad6f0bc d1360466-cb4c-4fea-9ac9-f029dc199e94 15 88432842 88432842 C T SNP IDH2 NM_002168.2 human genbank 54_36p -1 reviewed missense c.515 p.R172K 1.000 HMMPfam_Iso_dh,superfamily_Isocitrate/Isopropylmalate dehydrogenase-like HMMPfam_Iso_dh,PatternScan_IDH_IMDH,superfamily_Isocitrate/Isopropylmalate dehydrogenase-like - no_errors 65 0 0.00 75 46 38.02 NA NA NA +LOC401875 0 genome.wustl.edu 37 17 20516962 20516962 + RNA SNP C C T TCGA-AB-2864-03D-01W-0755-09 TCGA-AB-2864-11D-01W-0755-09 C C C T C C Verified Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq 1 dbGAP Illumina HiSeq 07f07406-597d-40b7-b218-ef40aad6f0bc d1360466-cb4c-4fea-9ac9-f029dc199e94 17 20457554 20457554 C T SNP LOC401875 XR_042367.1 human genbank 54_36p +1 model rna NULL NULL 0.961 - - - pseudogene 33 0 0.00 98 64 39.51 NA NA NA +SMURF2 0 genome.wustl.edu 37 17 62589578 62589578 + Missense_Mutation SNP T T C TCGA-AB-2864-03D-01W-0755-09 TCGA-AB-2864-11D-01W-0755-09 T T T C T T Verified Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq 1 dbGAP Illumina HiSeq 07f07406-597d-40b7-b218-ef40aad6f0bc d1360466-cb4c-4fea-9ac9-f029dc199e94 17 60020040 60020040 T C SNP SMURF2 NM_022739.3 human genbank 54_36p -1 validated missense c.314 p.N105S 1.000 HMMSmart_C2,superfamily_C2_CaLB HMMPfam_C2,HMMSmart_C2,HMMPfam_HECT,HMMSmart_HECTc,superfamily_HECT,HMMPfam_WW,HMMSmart_WW,PatternScan_WW_DOMAIN_1,superfamily_WW_Rsp5_WWP,superfamily_C2_CaLB - no_errors 352 13 3.55 65 47 41.96 NA NA NA +CENPB 0 genome.wustl.edu 37 20 3766879 3766879 + Nonsense_Mutation SNP C C T TCGA-AB-2864-03D-01W-0755-09 TCGA-AB-2864-11D-01W-0755-09 C C C T C C Verified Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq 1 dbGAP Illumina HiSeq 07f07406-597d-40b7-b218-ef40aad6f0bc d1360466-cb4c-4fea-9ac9-f029dc199e94 20 3714879 3714879 C T SNP CENPB NM_001810.5 human genbank 54_36p -1 reviewed nonsense c.252 p.W84* 1.000 HMMSmart_CENPB,superfamily_Homeodomain_like,HMMPfam_CenpB-DNA-bind HMMPfam_DDE,HMMSmart_CENPB,HMMPfam_CENP-B_N,superfamily_Homeodomain_like,HMMPfam_Cenp-B_dimeris,HMMPfam_CenpB-DNA-bind,superfamily_SSF101160 - no_errors 11 0 0.00 40 23 35.94 NA NA NA +ASXL1 0 genome.wustl.edu 37 20 31023271 31023272 + Frame_Shift_Ins INS - - ACCA TCGA-AB-2864-03D-01W-0755-09 TCGA-AB-2864-11D-01W-0755-09 - - - ACCA - - Verified Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq 1 dbGAP Illumina HiSeq 07f07406-597d-40b7-b218-ef40aad6f0bc d1360466-cb4c-4fea-9ac9-f029dc199e94 20 30486932 30486933 - ACCA INS ASXL1 NM_015338.4 human genbank 54_36p +1 reviewed frame_shift_ins c.2756_2757 p.S921fs 0.000:0.000 NULL NULL - no_errors NA NA NA NA NA NA NA NA NA +ATP2B3 0 genome.wustl.edu 37 X 152825264 152825264 + Silent SNP G G A TCGA-AB-2865-03B-01W-0728-08 TCGA-AB-2865-11B-01W-0729-08 G G G A G G Verified Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq 1 dbGAP Illumina HiSeq 2f23cee2-d71d-474c-aa2c-0c1df979301c fa23ecef-8a16-4fdb-8033-c547d06013bc X 152478458 152478458 G A SNP ATP2B3 NM_001001344.1 human genbank 54_36p +1 reviewed silent c.2703 p.T901 0.019 HMMPfam_Cation_ATPase_C,superfamily_Calcium ATPase transmembrane domain M HMMPfam_Cation_ATPase_N,HMMPfam_Hydrolase,HMMPfam_Cation_ATPase_C,HMMPfam_E1-E2_ATPase,PatternScan_ATPASE_E1_E2,superfamily_HAD-like,superfamily_Calcium ATPase transduction domain A,superfamily_Metal cation-transporting ATPase ATP-binding domain N,superfamily_Calcium ATPase transmembrane domain M - no_errors 24 0 0.00 9 29 76.32 NA NA NA +PRAMEF2 0 genome.wustl.edu 37 1 12919829 12919829 + Missense_Mutation SNP C C T TCGA-AB-2865-03B-01W-0728-08 TCGA-AB-2865-11B-01W-0729-08 C C C T C C Verified Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq 1 dbGAP Illumina HiSeq 2f23cee2-d71d-474c-aa2c-0c1df979301c fa23ecef-8a16-4fdb-8033-c547d06013bc 1 12842416 12842416 C T SNP PRAMEF2 NM_023014.1 human genbank 54_36p +1 provisional missense c.569 p.T190M 0.002 superfamily_SSF52047 superfamily_SSF52047 - no_errors 53 1 1.85 67 56 45.53 NA NA NA +MYOM3 0 genome.wustl.edu 37 1 24383989 24383989 + Silent SNP G G A TCGA-AB-2865-03B-01W-0728-08 TCGA-AB-2865-11B-01W-0729-08 G G G A G G Verified Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq 1 dbGAP Illumina HiSeq 2f23cee2-d71d-474c-aa2c-0c1df979301c fa23ecef-8a16-4fdb-8033-c547d06013bc 1 24256576 24256576 G A SNP MYOM3 NM_152372.3 human genbank 54_36p -1 validated silent c.4179 p.T1393 1.000 HMMSmart_SM00408,HMMSmart_SM00409,HMMPfam_I-set,superfamily_Immunoglobulin HMMSmart_SM00408,HMMSmart_SM00409,HMMPfam_fn3,HMMSmart_SM00060,superfamily_Fibronectin type III,HMMPfam_I-set,HMMPfam_ig,PatternScan_EF_HAND_1,superfamily_Immunoglobulin - no_errors 113 5 4.24 87 65 42.21 NA NA NA +SLC27A3 0 genome.wustl.edu 37 1 153751731 153751731 + Nonsense_Mutation SNP C C T TCGA-AB-2865-03B-01W-0728-08 TCGA-AB-2865-11B-01W-0729-08 C C C T C C Verified Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq 1 dbGAP Illumina HiSeq 2f23cee2-d71d-474c-aa2c-0c1df979301c fa23ecef-8a16-4fdb-8033-c547d06013bc 1 152018355 152018355 C T SNP SLC27A3 ENST00000368659 human ensembl 54_36p +1 known nonsense c.34 p.R12* 0.000 NULL superfamily_SSF56801 - no_errors 149 8 5.10 82 42 33.87 3 1 25.00 +MYOC 0 genome.wustl.edu 37 1 171605485 171605485 + Nonsense_Mutation SNP G G T TCGA-AB-2865-03B-01W-0728-08 TCGA-AB-2865-11B-01W-0729-08 G G G T G G Verified Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq 1 dbGAP Illumina HiSeq 2f23cee2-d71d-474c-aa2c-0c1df979301c fa23ecef-8a16-4fdb-8033-c547d06013bc 1 169872108 169872108 G T SNP MYOC NM_000261.1 human genbank 54_36p -1 reviewed nonsense c.1095 p.Y365* 1.000 HMMPfam_OLF,HMMSmart_SM00284 HMMPfam_OLF,HMMSmart_SM00284 - no_errors 111 2 1.77 128 95 42.41 NA NA NA +CLDN18 0 genome.wustl.edu 37 3 137742541 137742541 + Missense_Mutation SNP G G T TCGA-AB-2865-03B-01W-0728-08 TCGA-AB-2865-11B-01W-0729-08 G G G T G G Verified Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq 1 dbGAP Illumina HiSeq 2f23cee2-d71d-474c-aa2c-0c1df979301c fa23ecef-8a16-4fdb-8033-c547d06013bc 3 139225231 139225231 G T SNP CLDN18 NM_001002026.2 human genbank 54_36p +1 validated missense c.262 p.V88F 0.995 HMMPfam_PMP22_Claudin HMMPfam_PMP22_Claudin,PatternScan_CLAUDIN - no_errors 292 1 0.34 87 89 50.00 NA NA NA +TET2 0 genome.wustl.edu 37 4 106157938 106157938 + Nonsense_Mutation SNP C C T TCGA-AB-2865-03B-01W-0728-08 TCGA-AB-2865-11B-01W-0729-08 C C C T C C Verified Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq 1 dbGAP Illumina HiSeq 2f23cee2-d71d-474c-aa2c-0c1df979301c fa23ecef-8a16-4fdb-8033-c547d06013bc 4 106377387 106377387 C T SNP TET2 NM_017628.1 human genbank 54_36p +1 validated nonsense c.2839 p.Q947* 1.000 NULL NULL - no_errors 89 7 7.29 70 46 38.98 22 18 45.00 +TTBK1 0 genome.wustl.edu 37 6 43230718 43230718 + Missense_Mutation SNP A A G TCGA-AB-2865-03B-01W-0728-08 TCGA-AB-2865-11B-01W-0729-08 A A A G A A Verified Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq 1 dbGAP Illumina HiSeq 2f23cee2-d71d-474c-aa2c-0c1df979301c fa23ecef-8a16-4fdb-8033-c547d06013bc 6 43338696 43338696 A G SNP TTBK1 NM_032538.1 human genbank 54_36p +1 validated missense c.1616 p.D539G 1.000 NULL HMMSmart_SM00219,HMMSmart_SM00220,superfamily_Protein kinase-like (PK-like),PatternScan_PROTEIN_KINASE_ATP,HMMPfam_Pkinase - no_errors 38 3 7.32 32 16 33.33 NA NA NA +SLC26A3 0 genome.wustl.edu 37 7 107431676 107431676 + Silent SNP C C T TCGA-AB-2865-03B-01W-0728-08 TCGA-AB-2865-11B-01W-0729-08 C C C T C C Verified Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq 1 dbGAP Illumina HiSeq 2f23cee2-d71d-474c-aa2c-0c1df979301c fa23ecef-8a16-4fdb-8033-c547d06013bc 7 107218912 107218912 C T SNP SLC26A3 NM_000111.2 human genbank 54_36p -1 reviewed silent c.387 p.P129 0.919 NULL HMMPfam_STAS,superfamily_STAS,HMMPfam_Sulfate_transp,PatternScan_SLC26A - no_errors 59 4 6.35 86 65 42.21 NA NA NA +PLXNA4 0 genome.wustl.edu 37 7 131866295 131866295 + Missense_Mutation SNP C C T TCGA-AB-2865-03B-01W-0728-08 TCGA-AB-2865-11B-01W-0729-08 C C C T C C Verified Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq 1 dbGAP Illumina HiSeq 2f23cee2-d71d-474c-aa2c-0c1df979301c fa23ecef-8a16-4fdb-8033-c547d06013bc 7 131516835 131516835 C T SNP PLXNA4 NM_020911.1 human genbank 54_36p -1 validated missense c.3337 p.E1113K 0.997 HMMPfam_TIG,HMMSmart_SM00429,superfamily_E set domains HMMPfam_Sema,HMMSmart_SM00630,superfamily_Sema domain,HMMPfam_PSI,HMMPfam_TIG,HMMSmart_SM00429,HMMSmart_SM00423,superfamily_GTPase activation domain GAP,HMMPfam_Plexin_cytopl,superfamily_E set domains,superfamily_Plexin repeat - no_errors 138 2 1.43 73 64 46.72 NA NA NA +EZH2 0 genome.wustl.edu 37 7 148506162 148506162 + Splice_Site SNP C C T TCGA-AB-2865-03B-01W-0728-08 TCGA-AB-2865-11B-01W-0729-08 C C C T C C Verified Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq 1 dbGAP Illumina HiSeq 2f23cee2-d71d-474c-aa2c-0c1df979301c fa23ecef-8a16-4fdb-8033-c547d06013bc 7 148137095 148137095 C T SNP EZH2 NM_004456.3 human genbank 54_36p -1 reviewed splice_site c.2195+1 e18+1 1.000 - - - no_errors 61 0 0.00 124 100 44.44 3 10 76.92 +PKHD1L1 0 genome.wustl.edu 37 8 110412530 110412530 + Missense_Mutation SNP G G A TCGA-AB-2865-03B-01W-0728-08 TCGA-AB-2865-11B-01W-0729-08 G G G A G G Verified Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq 1 dbGAP Illumina HiSeq 2f23cee2-d71d-474c-aa2c-0c1df979301c fa23ecef-8a16-4fdb-8033-c547d06013bc 8 110481706 110481706 G A SNP PKHD1L1 NM_177531.4 human genbank 54_36p +1 validated missense c.1238 p.R413H 0.999 HMMSmart_SM00710,HMMSmart_SM00758,superfamily_Anthrax protective antigen HMMPfam_TIG,HMMSmart_SM00429,HMMSmart_SM00710,superfamily_Cupredoxins,superfamily_Pectin lyase-like,HMMSmart_SM00758,superfamily_E set domains,HMMPfam_G8,superfamily_Anthrax protective antigen - no_errors 77 1 1.28 70 41 36.28 NA NA NA +JAK2 0 genome.wustl.edu 37 9 5073770 5073770 + Missense_Mutation SNP G G T rs77375493 TCGA-AB-2865-03B-01W-0728-08 TCGA-AB-2865-11B-01W-0729-08 G G G T G G Verified Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq 1 dbGAP Illumina HiSeq 2f23cee2-d71d-474c-aa2c-0c1df979301c fa23ecef-8a16-4fdb-8033-c547d06013bc 9 5063770 5063770 G T SNP JAK2 NM_004972.3 human genbank 54_36p +1 reviewed missense c.1849 p.V617F 1.000 HMMPfam_Pkinase_Tyr,HMMSmart_TyrKc,superfamily_Kinase_like HMMPfam_SH2,HMMSmart_SH2,HMMPfam_Pkinase_Tyr,HMMSmart_TyrKc,PatternScan_PROTEIN_KINASE_TYR,superfamily_Kinase_like,PatternScan_PROTEIN_KINASE_ATP,PatternScan_FERM_1,PatternScan_FERM_2,HMMSmart_B41,superfamily_SSF55550 - no_errors 79 1 1.25 68 40 37.04 14 20 58.82 +KRAS 0 genome.wustl.edu 37 12 25398284 25398284 + Missense_Mutation SNP C C T rs121913529 TCGA-AB-2865-03B-01W-0728-08 TCGA-AB-2865-11B-01W-0729-08 C C C T C C Verified Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq 1 dbGAP Illumina HiSeq 2f23cee2-d71d-474c-aa2c-0c1df979301c fa23ecef-8a16-4fdb-8033-c547d06013bc 12 25289551 25289551 C T SNP KRAS NM_033360.3 human genbank 54_36p -1 reviewed missense c.35 p.G12D 1.000 HMMSmart_SM00176,HMMSmart_SM00173,HMMSmart_SM00174,HMMSmart_SM00175,HMMPfam_Ras,superfamily_P-loop containing nucleoside triphosphate hydrolases HMMSmart_SM00176,HMMSmart_SM00173,HMMSmart_SM00174,HMMSmart_SM00175,HMMPfam_Ras,superfamily_P-loop containing nucleoside triphosphate hydrolases - no_errors 11 0 0.00 80 14 14.89 23 8 25.81 +DIS3 0 genome.wustl.edu 37 13 73345997 73345997 + Missense_Mutation SNP C C T TCGA-AB-2865-03B-01W-0728-08 TCGA-AB-2865-11B-01W-0729-08 C C C T C C Verified Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq 1 dbGAP Illumina HiSeq 2f23cee2-d71d-474c-aa2c-0c1df979301c fa23ecef-8a16-4fdb-8033-c547d06013bc 13 72243998 72243998 C T SNP DIS3 NM_014953.1 human genbank 54_36p -1 validated missense c.1541 p.R514K 0.986 HMMPfam_RNB HMMPfam_RNB,PatternScan_RIBONUCLEASE_II,HMMSmart_SM00670,superfamily_PIN domain-like - no_errors 40 5 11.11 94 66 40.49 19 14 41.18 +MYH4 0 genome.wustl.edu 37 17 10355546 10355546 + Silent SNP G G A TCGA-AB-2865-03B-01W-0728-08 TCGA-AB-2865-11B-01W-0729-08 G G G A G G Verified Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq 1 dbGAP Illumina HiSeq 2f23cee2-d71d-474c-aa2c-0c1df979301c fa23ecef-8a16-4fdb-8033-c547d06013bc 17 10296271 10296271 G A SNP MYH4 NM_017533.2 human genbank 54_36p -1 validated silent c.3450 p.I1150 1.000 HMMPfam_Myosin_tail_1 HMMSmart_IQ,HMMPfam_Myosin_head,HMMSmart_MYSc,HMMPfam_Myosin_tail_1,HMMPfam_Myosin_N,superfamily_SSF52540 - no_errors 61 4 6.15 60 30 32.61 NA NA NA +PSG9 0 genome.wustl.edu 37 19 43772024 43772024 + Silent SNP C C T TCGA-AB-2865-03B-01W-0728-08 TCGA-AB-2865-11B-01W-0729-08 C C C T C C Verified Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq 1 dbGAP Illumina HiSeq 2f23cee2-d71d-474c-aa2c-0c1df979301c fa23ecef-8a16-4fdb-8033-c547d06013bc 19 48463864 48463864 C T SNP PSG9 NM_002784.3 human genbank 54_36p -1 validated silent c.342 p.R114 0.015 HMMSmart_SM00409,HMMPfam_V-set,superfamily_Immunoglobulin HMMSmart_SM00408,HMMSmart_SM00409,HMMPfam_V-set,HMMPfam_ig,superfamily_Immunoglobulin - no_errors 276 3 1.08 122 114 48.31 NA NA NA +RUNX1 0 genome.wustl.edu 37 21 36231792 36231792 + Missense_Mutation SNP C C T TCGA-AB-2865-03B-01W-0728-08 TCGA-AB-2865-11B-01W-0729-08 C C C T C C Verified Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq 1 dbGAP Illumina HiSeq 2f23cee2-d71d-474c-aa2c-0c1df979301c fa23ecef-8a16-4fdb-8033-c547d06013bc 21 35153662 35153662 C T SNP RUNX1 NM_001754.2 human genbank 54_36p -1 reviewed missense c.592 p.D198N 1.000 superfamily_p53-like transcription factors,HMMPfam_Runt superfamily_p53-like transcription factors,HMMPfam_Runt,HMMPfam_RunxI - no_errors 98 1 1.01 61 97 60.62 359 705 66.20 +RUNX1 0 genome.wustl.edu 37 21 36252940 36252940 + Missense_Mutation SNP G G A TCGA-AB-2865-03B-01W-0728-08 TCGA-AB-2865-11B-01W-0729-08 G G G A G G Verified Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq 1 dbGAP Illumina HiSeq 2f23cee2-d71d-474c-aa2c-0c1df979301c fa23ecef-8a16-4fdb-8033-c547d06013bc 21 35174810 35174810 G A SNP RUNX1 NM_001754.2 human genbank 54_36p -1 reviewed missense c.422 p.S141L 1.000 superfamily_p53-like transcription factors,HMMPfam_Runt superfamily_p53-like transcription factors,HMMPfam_Runt,HMMPfam_RunxI - no_errors 34 1 2.86 62 22 25.88 712 326 31.41 +CACNG2 0 genome.wustl.edu 37 22 37098453 37098453 + Missense_Mutation SNP C C T TCGA-AB-2865-03B-01W-0728-08 TCGA-AB-2865-11B-01W-0729-08 C C C T C C Verified Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq 1 dbGAP Illumina HiSeq 2f23cee2-d71d-474c-aa2c-0c1df979301c fa23ecef-8a16-4fdb-8033-c547d06013bc 22 35428399 35428399 C T SNP CACNG2 NM_006078.2 human genbank 54_36p -1 reviewed missense c.169 p.V57I 1.000 HMMPfam_PMP22_Claudin HMMPfam_PMP22_Claudin - no_errors 316 4 1.25 48 36 42.86 NA NA NA +TET2 0 genome.wustl.edu 37 4 106193801 106193802 + Frame_Shift_Ins INS - - AT TCGA-AB-2865-03B-01W-0728-08 TCGA-AB-2865-11B-01W-0729-08 - - - AT - - Verified Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq 1 dbGAP Illumina HiSeq 2f23cee2-d71d-474c-aa2c-0c1df979301c fa23ecef-8a16-4fdb-8033-c547d06013bc 4 106413250 106413251 - AT INS TET2 ENST00000265149 human ensembl 54_36p +1 known frame_shift_ins c.669_670 p.K223fs 1.000:1.000 NULL NULL - no_start_codon 47 0 0.00 129 62 32.46 27 9 25.00 +TET2 0 genome.wustl.edu 37 4 106193802 106193803 + Frame_Shift_Ins INS - - TA TCGA-AB-2865-03B-01W-0728-08 TCGA-AB-2865-11B-01W-0729-08 - - - TA - - Verified Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq 1 dbGAP Illumina HiSeq 2f23cee2-d71d-474c-aa2c-0c1df979301c fa23ecef-8a16-4fdb-8033-c547d06013bc 4 106413251 106413252 - TA INS TET2 ENST00000265149 human ensembl 54_36p +1 known frame_shift_ins c.670_671 p.K224fs 1.000:1.000 NULL NULL - no_start_codon 48 0 0.00 191 0 0.00 37 0 0.00 +IDH2 0 genome.wustl.edu 37 15 90631934 90631934 + Missense_Mutation SNP C C T rs121913502 TCGA-AB-2866-03B-01W-0728-08 TCGA-AB-2866-11B-01W-0729-08 C C C T C C Verified Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq 1 dbGAP Illumina HiSeq 8c5db5cd-3e75-4126-af77-acd85694d165 cc0d8090-077b-4480-8205-bbe07ce258c6 15 88432938 88432938 C T SNP IDH2 NM_002168.2 human genbank 54_36p -1 reviewed missense c.419 p.R140Q 1.000 HMMPfam_Iso_dh,superfamily_Isocitrate/Isopropylmalate dehydrogenase-like HMMPfam_Iso_dh,PatternScan_IDH_IMDH,superfamily_Isocitrate/Isopropylmalate dehydrogenase-like - no_errors 104 34 24.46 72 55 42.97 149 150 50.17 +KDM6A 0 genome.wustl.edu 37 X 44923000 44923000 + Missense_Mutation SNP C C T TCGA-AB-2867-03B-01W-0728-08 TCGA-AB-2867-11B-01W-0729-08 C C C T C C Verified Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq 1 dbGAP Illumina HiSeq b3f3ba24-dfbe-4b4b-8502-83ec6ecd7df3 4e18dd6e-74b8-41c3-9665-900c92d39bee X 44807944 44807944 C T SNP UTX NM_021140.2 human genbank 54_36p +1 validated missense c.1861 p.R621C 1.000 NULL HMMPfam_TPR_1,HMMSmart_JmjC,HMMPfam_JmjC,HMMSmart_TPR,superfamily_SSF48452 - no_errors 116 7 5.65 73 39 34.82 26 9 25.71 +SPATA21 0 genome.wustl.edu 37 1 16736345 16736345 + Missense_Mutation SNP G G A TCGA-AB-2867-03B-01W-0728-08 TCGA-AB-2867-11B-01W-0729-08 G G G A G G Verified Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq 1 dbGAP Illumina HiSeq b3f3ba24-dfbe-4b4b-8502-83ec6ecd7df3 4e18dd6e-74b8-41c3-9665-900c92d39bee 1 16608932 16608932 G A SNP SPATA21 NM_198546.1 human genbank 54_36p -1 provisional missense c.338 p.S113L 0.005 NULL PatternScan_EF_HAND_1,HMMPfam_efhand,superfamily_SSF47473 - no_errors 390 9 2.24 183 80 30.42 NA NA NA +OR2M3 0 genome.wustl.edu 37 1 248367136 248367136 + Nonsense_Mutation SNP T T A TCGA-AB-2867-03B-01W-0728-08 TCGA-AB-2867-11B-01W-0729-08 T T T A T T Verified Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq 1 dbGAP Illumina HiSeq b3f3ba24-dfbe-4b4b-8502-83ec6ecd7df3 4e18dd6e-74b8-41c3-9665-900c92d39bee 1 246433759 246433759 T A SNP OR2M3 NM_001004689.1 human genbank 54_36p +1 provisional nonsense c.767 p.L256* 0.000 HMMPfam_7tm_1,superfamily_Family A G protein-coupled receptor-like HMMPfam_7tm_1,PatternScan_G_PROTEIN_RECEP_F1_1,superfamily_Family A G protein-coupled receptor-like - no_errors 136 3 2.13 143 70 32.86 NA NA NA +DNMT3A 0 genome.wustl.edu 37 2 25458687 25458687 + Missense_Mutation SNP T T C TCGA-AB-2867-03B-01W-0728-08 TCGA-AB-2867-11B-01W-0729-08 T T T C T T Verified Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq 1 dbGAP Illumina HiSeq b3f3ba24-dfbe-4b4b-8502-83ec6ecd7df3 4e18dd6e-74b8-41c3-9665-900c92d39bee 2 25312191 25312191 T C SNP DNMT3A NM_022552.3 human genbank 54_36p -1 reviewed missense c.2486 p.K829R 1.000 superfamily_S-adenosyl-L-methionine-dependent methyltransferases HMMPfam_PWWP,HMMSmart_SM00293,HMMPfam_DNA_methylase,superfamily_FYVE/PHD zinc finger,PatternScan_C5_MTASE_1,superfamily_S-adenosyl-L-methionine-dependent methyltransferases,superfamily_Tudor/PWWP/MBT - no_errors 208 10 4.55 45 29 38.67 9 21 70.00 +DNMT3A 0 genome.wustl.edu 37 2 25469055 25469055 + Missense_Mutation SNP T T C TCGA-AB-2867-03B-01W-0728-08 TCGA-AB-2867-11B-01W-0729-08 T T T C T T Verified Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq 1 dbGAP Illumina HiSeq b3f3ba24-dfbe-4b4b-8502-83ec6ecd7df3 4e18dd6e-74b8-41c3-9665-900c92d39bee 2 25322559 25322559 T C SNP DNMT3A NM_022552.3 human genbank 54_36p -1 reviewed missense c.1403 p.K468R 1.000 NULL HMMPfam_PWWP,HMMSmart_SM00293,HMMPfam_DNA_methylase,superfamily_FYVE/PHD zinc finger,PatternScan_C5_MTASE_1,superfamily_S-adenosyl-L-methionine-dependent methyltransferases,superfamily_Tudor/PWWP/MBT - no_errors 84 1 1.16 22 10 31.25 27 3 10.00 +IDH1 0 genome.wustl.edu 37 2 209113113 209113113 + Missense_Mutation SNP G G A rs121913499 TCGA-AB-2867-03B-01W-0728-08 TCGA-AB-2867-11B-01W-0729-08 G G G A G G Verified Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq 1 dbGAP Illumina HiSeq b3f3ba24-dfbe-4b4b-8502-83ec6ecd7df3 4e18dd6e-74b8-41c3-9665-900c92d39bee 2 208821358 208821358 G A SNP IDH1 NM_005896.2 human genbank 54_36p -1 reviewed missense c.394 p.R132C 1.000 HMMPfam_Iso_dh,superfamily_Isocitrate/Isopropylmalate dehydrogenase-like HMMPfam_Iso_dh,PatternScan_IDH_IMDH,superfamily_Isocitrate/Isopropylmalate dehydrogenase-like - no_errors 115 4 3.31 48 29 37.66 17 22 56.41 +KALRN 0 genome.wustl.edu 37 3 124223788 124223788 + Silent SNP C C T TCGA-AB-2867-03B-01W-0728-08 TCGA-AB-2867-11B-01W-0729-08 C C C T C C Verified Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq 1 dbGAP Illumina HiSeq b3f3ba24-dfbe-4b4b-8502-83ec6ecd7df3 4e18dd6e-74b8-41c3-9665-900c92d39bee 3 125706478 125706478 C T SNP KALRN ENST00000393496 human ensembl 54_36p +1 known silent c.39 p.N13 1.000 superfamily_SH3 HMMPfam_RhoGEF,HMMSmart_RhoGEF,superfamily_DH-domain,HMMPfam_SH3_1,HMMSmart_SH3,superfamily_SH3,HMMPfam_PH,HMMSmart_PH,HMMPfam_SH3_2,superfamily_SSF50729 - no_errors 260 7 2.61 123 58 31.69 NA NA NA +TUBA3C 0 genome.wustl.edu 37 13 19751388 19751388 + Silent SNP G G A TCGA-AB-2867-03B-01W-0728-08 TCGA-AB-2867-11B-01W-0729-08 G G G A G G Verified Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq 1 dbGAP Illumina HiSeq b3f3ba24-dfbe-4b4b-8502-83ec6ecd7df3 4e18dd6e-74b8-41c3-9665-900c92d39bee 13 18649388 18649388 G A SNP TUBA3C NM_006001.1 human genbank 54_36p -1 reviewed silent c.735 p.D245 0.999 HMMPfam_Tubulin,superfamily_Tubulin nucleotide-binding domain-like HMMPfam_Tubulin,superfamily_Tubulin C-terminal domain-like,PatternScan_TUBULIN,HMMPfam_Tubulin_C,superfamily_Tubulin nucleotide-binding domain-like - no_errors 123 3 2.36 37 22 37.29 NA NA NA +NALCN 0 genome.wustl.edu 37 13 101712314 101712314 + Silent SNP C C T TCGA-AB-2867-03B-01W-0728-08 TCGA-AB-2867-11B-01W-0729-08 C C C T C C Verified Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq 1 dbGAP Illumina HiSeq b3f3ba24-dfbe-4b4b-8502-83ec6ecd7df3 4e18dd6e-74b8-41c3-9665-900c92d39bee 13 100510315 100510315 C T SNP NALCN NM_052867.2 human genbank 54_36p -1 validated silent c.4761 p.Q1587 1.000 NULL HMMPfam_Ion_trans,superfamily_Voltage-gated potassium channels - no_errors 220 10 4.35 99 55 35.71 NA NA NA +OXA1L 0 genome.wustl.edu 37 14 23236556 23236556 + Missense_Mutation SNP T T G TCGA-AB-2867-03B-01W-0728-08 TCGA-AB-2867-11B-01W-0729-08 T T T G T T Verified Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq 1 dbGAP Illumina HiSeq b3f3ba24-dfbe-4b4b-8502-83ec6ecd7df3 4e18dd6e-74b8-41c3-9665-900c92d39bee 14 22306396 22306396 T G SNP OXA1L NM_005015.3 human genbank 54_36p +1 validated missense c.343 p.F115V 0.001 NULL HMMPfam_60KD_IMP - no_errors 107 2 1.83 43 19 30.65 65 37 36.27 +NID2 0 genome.wustl.edu 37 14 52520434 52520434 + Missense_Mutation SNP G G A TCGA-AB-2867-03B-01W-0728-08 TCGA-AB-2867-11B-01W-0729-08 G G G A G G Verified Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq 1 dbGAP Illumina HiSeq b3f3ba24-dfbe-4b4b-8502-83ec6ecd7df3 4e18dd6e-74b8-41c3-9665-900c92d39bee 14 51590184 51590184 G A SNP NID2 NM_007361.3 human genbank 54_36p -1 validated missense c.1292 p.S431L 0.063 NULL HMMPfam_Ldl_recept_b,HMMSmart_SM00135,PatternScan_ASX_HYDROXYL,HMMPfam_Thyroglobulin_1,HMMSmart_SM00211,PatternScan_THYROGLOBULIN_1_1,superfamily_Thyroglobulin type-1 domain,HMMSmart_SM00179,HMMPfam_NIDO,HMMSmart_SM00539,HMMPfam_EGF,HMMSmart_SM00181,HMMPfam_G2F,HMMSmart_SM00682,superfamily_GFP-like,PatternScan_EGF_2,HMMPfam_EGF_CA,PatternScan_EGF_CA,superfamily_EGF/Laminin,superfamily_YWTD domain - no_errors 206 3 1.43 190 58 23.20 NA NA NA +CENPN 0 genome.wustl.edu 37 16 81056223 81056223 + Missense_Mutation SNP C C T TCGA-AB-2867-03B-01W-0728-08 TCGA-AB-2867-11B-01W-0729-08 C C C T C C Verified Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq 1 dbGAP Illumina HiSeq b3f3ba24-dfbe-4b4b-8502-83ec6ecd7df3 4e18dd6e-74b8-41c3-9665-900c92d39bee 16 79613724 79613724 C T SNP CENPN NM_001100625.1 human genbank 54_36p +1 validated missense c.553 p.H185Y 0.998 HMMPfam_CHL4 HMMPfam_CHL4 - no_errors 160 5 3.01 74 39 34.51 0 0 0.00 +RIBC2 0 genome.wustl.edu 37 22 45813582 45813582 + Silent SNP G G A TCGA-AB-2867-03B-01W-0728-08 TCGA-AB-2867-11B-01W-0729-08 G G G A G G Verified Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq 1 dbGAP Illumina HiSeq b3f3ba24-dfbe-4b4b-8502-83ec6ecd7df3 4e18dd6e-74b8-41c3-9665-900c92d39bee 22 44192246 44192246 G A SNP RIBC2 NM_015653.2 human genbank 54_36p +1 validated silent c.93 p.Q31 0.149 HMMPfam_RIB43A HMMPfam_RIB43A - no_errors 232 10 4.08 120 85 41.46 0 3 100.00 +LOC392501 0 genome.wustl.edu 37 X 91931647 91931647 + RNA SNP C C T TCGA-AB-2868-03B-01W-0728-08 TCGA-AB-2868-11B-01W-0729-08 C C C T C C Verified Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq 1 dbGAP Illumina HiSeq 865e8aa5-ec81-46af-acbc-e3becd24a1dd 10afa5bd-b1eb-4f78-8ae2-5e7df48d2c6e X 91818303 91818303 C T SNP LOC392501 XR_016267.2 human genbank 54_36p -1 model rna NULL NULL 1.000 - - - pseudogene 74 1 1.30 36 33 47.83 128 0 0.00 +SPEN 0 genome.wustl.edu 37 1 16254684 16254684 + Missense_Mutation SNP A A C TCGA-AB-2868-03B-01W-0728-08 TCGA-AB-2868-11B-01W-0729-08 A A A C A A Verified Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq 1 dbGAP Illumina HiSeq 865e8aa5-ec81-46af-acbc-e3becd24a1dd 10afa5bd-b1eb-4f78-8ae2-5e7df48d2c6e 1 16127271 16127271 A C SNP SPEN NM_015001.2 human genbank 54_36p +1 reviewed missense c.1949 p.Y650S 1.000 NULL HMMPfam_RRM_1,HMMSmart_RRM,HMMPfam_SPOC,superfamily_SPOC-like,superfamily_SSF54928 - no_errors 108 1 0.92 104 56 35.00 26 16 38.10 +CATSPER4 0 genome.wustl.edu 37 1 26524486 26524486 + Missense_Mutation SNP C C A TCGA-AB-2868-03B-01W-0728-08 TCGA-AB-2868-11B-01W-0729-08 C C C A C C Verified Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq 1 dbGAP Illumina HiSeq 865e8aa5-ec81-46af-acbc-e3becd24a1dd 10afa5bd-b1eb-4f78-8ae2-5e7df48d2c6e 1 26397073 26397073 C A SNP CATSPER4 NM_198137.1 human genbank 54_36p +1 validated missense c.596 p.P199H 0.993 HMMPfam_Ion_trans,superfamily_Voltage-gated potassium channels HMMPfam_Ion_trans,superfamily_Voltage-gated potassium channels - no_errors 202 1 0.49 106 30 22.06 NA NA NA +LRBA 0 genome.wustl.edu 37 4 151821353 151821353 + Missense_Mutation SNP T T C TCGA-AB-2868-03B-01W-0728-08 TCGA-AB-2868-11B-01W-0729-08 T T T C T T Verified Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq 1 dbGAP Illumina HiSeq 865e8aa5-ec81-46af-acbc-e3becd24a1dd 10afa5bd-b1eb-4f78-8ae2-5e7df48d2c6e 4 152040803 152040803 T C SNP LRBA NM_006726.2 human genbank 54_36p -1 validated missense c.1772 p.Y591C 1.000 superfamily_ARM repeat HMMPfam_Beach,superfamily_BEACH domain,HMMSmart_SM00320,superfamily_Concanavalin A-like lectins/glucanases,HMMPfam_DUF1088,superfamily_WD40 repeat-like,superfamily_ARM repeat,HMMPfam_WD40,superfamily_PH domain-like - no_errors 197 2 1.01 101 37 26.81 22 15 40.54 +PHACTR1 0 genome.wustl.edu 37 6 13206329 13206329 + Missense_Mutation SNP T T G TCGA-AB-2868-03B-01W-0728-08 TCGA-AB-2868-11B-01W-0729-08 T T T G T T Verified Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq 1 dbGAP Illumina HiSeq 865e8aa5-ec81-46af-acbc-e3becd24a1dd 10afa5bd-b1eb-4f78-8ae2-5e7df48d2c6e 6 13314308 13314308 T G SNP PHACTR1 NM_030948.1 human genbank 54_36p +1 validated missense c.947 p.L316R 1.000 NULL HMMPfam_RPEL,HMMSmart_SM00707 - no_errors 110 0 0.00 159 39 19.70 6 1 14.29 +ZNF783 0 genome.wustl.edu 37 7 148964299 148964299 + Missense_Mutation SNP G G A TCGA-AB-2868-03B-01W-0728-08 TCGA-AB-2868-11B-01W-0729-08 G G G A G G Verified Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq 1 dbGAP Illumina HiSeq 865e8aa5-ec81-46af-acbc-e3becd24a1dd 10afa5bd-b1eb-4f78-8ae2-5e7df48d2c6e 7 148595232 148595232 G A SNP ZNF783 ENST00000378052 human ensembl 54_36p +1 known missense c.659 p.R220K 0.002 NULL HMMPfam_KRAB,HMMSmart_KRAB,superfamily_Krueppel-associated_box - no_errors 291 1 0.34 248 103 29.34 28 16 36.36 +LZTS1 0 genome.wustl.edu 37 8 20110868 20110868 + Missense_Mutation SNP G G C TCGA-AB-2868-03B-01W-0728-08 TCGA-AB-2868-11B-01W-0729-08 G G G C G G Verified Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq 1 dbGAP Illumina HiSeq 865e8aa5-ec81-46af-acbc-e3becd24a1dd 10afa5bd-b1eb-4f78-8ae2-5e7df48d2c6e 8 20155148 20155148 G C SNP LZTS1 NM_021020.2 human genbank 54_36p -1 validated missense c.574 p.Q192E 1.000 NULL HMMPfam_Fez1 - no_errors 91 0 0.00 97 52 34.90 NA NA NA +FLJ43860 0 genome.wustl.edu 37 8 142486214 142486214 + Silent SNP C C T TCGA-AB-2868-03B-01W-0728-08 TCGA-AB-2868-11B-01W-0729-08 C C C T C C Verified Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq 1 dbGAP Illumina HiSeq 865e8aa5-ec81-46af-acbc-e3becd24a1dd 10afa5bd-b1eb-4f78-8ae2-5e7df48d2c6e 8 142555396 142555396 C T SNP FLJ43860 NM_207414.2 human genbank 54_36p -1 validated silent c.1479 p.K493 0.033 NULL HMMPfam_HEAT,superfamily_ARM repeat - pseudogene 55 0 0.00 120 30 20.00 NA NA NA +EPPK1 0 genome.wustl.edu 37 8 144940290 144940290 + Missense_Mutation SNP C C G TCGA-AB-2868-03B-01W-0728-08 TCGA-AB-2868-11B-01W-0729-08 C C C G C C Verified Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq 1 dbGAP Illumina HiSeq 865e8aa5-ec81-46af-acbc-e3becd24a1dd 10afa5bd-b1eb-4f78-8ae2-5e7df48d2c6e 8 145012278 145012278 C G SNP EPPK1 NM_031308.1 human genbank 54_36p -1 provisional missense c.7057 p.D2353H 1.000 HMMPfam_Plectin,superfamily_Plakin repeat HMMPfam_Plectin,HMMSmart_SM00250,superfamily_Plakin repeat - no_stop_codon:bad_bp_length_for_coding_region 11 0 0.00 33 10 23.26 19 2 9.52 +STK33 0 genome.wustl.edu 37 11 8474453 8474453 + Missense_Mutation SNP C C A TCGA-AB-2868-03B-01W-0728-08 TCGA-AB-2868-11B-01W-0729-08 C C C A C C Verified Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq 1 dbGAP Illumina HiSeq 865e8aa5-ec81-46af-acbc-e3becd24a1dd 10afa5bd-b1eb-4f78-8ae2-5e7df48d2c6e 11 8431029 8431029 C A SNP STK33 NM_030906.2 human genbank 54_36p -1 validated missense c.787 p.V263L 1.000 HMMSmart_SM00219,HMMSmart_SM00220,superfamily_Protein kinase-like (PK-like),HMMPfam_Pkinase HMMSmart_SM00219,HMMSmart_SM00220,PatternScan_PROTEIN_KINASE_ST,superfamily_Protein kinase-like (PK-like),PatternScan_PROTEIN_KINASE_ATP,HMMPfam_Pkinase - no_errors 131 0 0.00 169 61 26.52 NA NA NA +C1RL 0 genome.wustl.edu 37 12 7249465 7249465 + Missense_Mutation SNP C C T TCGA-AB-2868-03B-01W-0728-08 TCGA-AB-2868-11B-01W-0729-08 C C C T C C Verified Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq 1 dbGAP Illumina HiSeq 865e8aa5-ec81-46af-acbc-e3becd24a1dd 10afa5bd-b1eb-4f78-8ae2-5e7df48d2c6e 12 7140607 7140607 C T SNP C1RL NM_016546.1 human genbank 54_36p -1 provisional missense c.986 p.R329H 0.357 HMMPfam_Trypsin,HMMSmart_SM00020,superfamily_Trypsin-like serine proteases HMMPfam_CUB,HMMSmart_SM00042,superfamily_Spermadhesin CUB domain,HMMPfam_Trypsin,HMMSmart_SM00020,superfamily_Trypsin-like serine proteases,PatternScan_TRYPSIN_SER - no_errors 172 0 0.00 129 50 27.93 20 11 35.48 +RFX4 0 genome.wustl.edu 37 12 107075813 107075813 + Missense_Mutation SNP G G A TCGA-AB-2868-03B-01W-0728-08 TCGA-AB-2868-11B-01W-0729-08 G G G A G G Verified Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq 1 dbGAP Illumina HiSeq 865e8aa5-ec81-46af-acbc-e3becd24a1dd 10afa5bd-b1eb-4f78-8ae2-5e7df48d2c6e 12 105599943 105599943 G A SNP RFX4 NM_213594.3 human genbank 54_36p +1 reviewed missense c.358 p.G120R 1.000 HMMPfam_RFX_DNA_binding,superfamily_SSF46785 HMMPfam_RFX_DNA_binding,superfamily_SSF46785 - no_errors 163 0 0.00 194 65 25.10 NA NA NA +CSPG4 0 genome.wustl.edu 37 15 75982058 75982058 + Missense_Mutation SNP T T A TCGA-AB-2868-03B-01W-0728-08 TCGA-AB-2868-11B-01W-0729-08 T T T A T T Verified Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq 1 dbGAP Illumina HiSeq 865e8aa5-ec81-46af-acbc-e3becd24a1dd 10afa5bd-b1eb-4f78-8ae2-5e7df48d2c6e 15 73769113 73769113 T A SNP CSPG4 NM_001897.4 human genbank 54_36p -1 reviewed missense c.1348 p.R450W 0.098 NULL HMMSmart_SM00282,superfamily_Concanavalin A-like lectins/glucanases,HMMPfam_Laminin_G_2,PatternScan_ATPASE_ALPHA_BETA - no_errors 20 0 0.00 12 4 25.00 NA NA NA +LOC729217 0 genome.wustl.edu 37 16 64294657 64294657 + RNA SNP G G T TCGA-AB-2868-03B-01W-0728-08 TCGA-AB-2868-11B-01W-0729-08 G G G T G G Verified Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq 1 dbGAP Illumina HiSeq 865e8aa5-ec81-46af-acbc-e3becd24a1dd 10afa5bd-b1eb-4f78-8ae2-5e7df48d2c6e 16 62852158 62852158 G T SNP LOC729217 XR_015483.2 human genbank 54_36p -1 model rna NULL NULL 1.000 - - - pseudogene 165 0 0.00 138 48 25.81 34 0 0.00 +ZC3H18 0 genome.wustl.edu 37 16 88666346 88666346 + Missense_Mutation SNP A A G TCGA-AB-2868-03B-01W-0728-08 TCGA-AB-2868-11B-01W-0729-08 A A A G A A Verified Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq 1 dbGAP Illumina HiSeq 865e8aa5-ec81-46af-acbc-e3becd24a1dd 10afa5bd-b1eb-4f78-8ae2-5e7df48d2c6e 16 87193847 87193847 A G SNP ZC3H18 NM_144604.2 human genbank 54_36p +1 provisional missense c.1078 p.R360G 1.000 NULL HMMPfam_zf-CCCH,HMMSmart_SM00356 - no_errors 35 0 0.00 64 24 27.27 61 40 39.60 +TP53 0 genome.wustl.edu 37 17 7578555 7578555 + Splice_Site SNP C C T TCGA-AB-2868-03B-01W-0728-08 TCGA-AB-2868-11B-01W-0729-08 C C C T C C Verified Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq 1 dbGAP Illumina HiSeq 865e8aa5-ec81-46af-acbc-e3becd24a1dd 10afa5bd-b1eb-4f78-8ae2-5e7df48d2c6e 17 7519280 7519280 C T SNP TP53 NM_000546.4 human genbank 54_36p -1 reviewed splice_site c.376-1 e4-1 1.000 - - - no_errors 281 0 0.00 97 80 45.20 5 5 50.00 +MCART2 0 genome.wustl.edu 37 18 29339843 29339843 + Missense_Mutation SNP C C T TCGA-AB-2868-03B-01W-0728-08 TCGA-AB-2868-11B-01W-0729-08 C C C T C C Verified Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq 1 dbGAP Illumina HiSeq 865e8aa5-ec81-46af-acbc-e3becd24a1dd 10afa5bd-b1eb-4f78-8ae2-5e7df48d2c6e 18 27593841 27593841 C T SNP MCART2 NM_001034172.2 human genbank 54_36p -1 validated missense c.782 p.R261Q 1.000 superfamily_Mitochondrial carrier,HMMPfam_Mito_carr superfamily_Mitochondrial carrier,HMMPfam_Mito_carr - no_errors 70 0 0.00 54 31 36.47 1 0 0.00 +PLEKHG2 0 genome.wustl.edu 37 19 39913763 39913763 + Missense_Mutation SNP C C T TCGA-AB-2868-03B-01W-0728-08 TCGA-AB-2868-11B-01W-0729-08 C C C T C C Verified Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq 1 dbGAP Illumina HiSeq 865e8aa5-ec81-46af-acbc-e3becd24a1dd 10afa5bd-b1eb-4f78-8ae2-5e7df48d2c6e 19 44605603 44605603 C T SNP PLEKHG2 NM_022835.2 human genbank 54_36p +1 validated missense c.1943 p.S648F 0.098 NULL HMMPfam_RhoGEF,HMMSmart_SM00325,superfamily_DBL homology domain (DH-domain),HMMPfam_PH,HMMSmart_SM00233,superfamily_PH domain-like - no_errors 214 0 0.00 272 66 19.53 25 3 10.71 +RERE 0 genome.wustl.edu 37 1 8526072 8526072 + Silent SNP G G A TCGA-AB-2869-03A-01W-0761-09 TCGA-AB-2869-11A-01W-0732-08 G G G A G G Verified Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq 1 dbGAP Illumina HiSeq b123374d-2ce1-4a34-8a09-8dfbb4f6629f c6143181-0581-4a20-9cae-d094d36312ae 1 8448659 8448659 G A SNP RERE NM_001042681.1 human genbank 54_36p -1 reviewed silent c.1116 p.S372 0.989 NULL HMMPfam_GATA,HMMSmart_SM00401,HMMPfam_ELM2,HMMSmart_SM00717,HMMPfam_BAH,HMMSmart_SM00439,HMMPfam_Atrophin-1,superfamily_Homeodomain-like,HMMPfam_Myb_DNA-binding,superfamily_Glucocorticoid receptor-like (DNA-binding domain) - no_errors 75 7 8.54 134 96 40.68 28 30 51.72 +ABCA4 0 genome.wustl.edu 37 1 94490594 94490594 + Missense_Mutation SNP C C T TCGA-AB-2869-03A-01W-0761-09 TCGA-AB-2869-11A-01W-0732-08 C C C T C C Verified Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq 1 dbGAP Illumina HiSeq b123374d-2ce1-4a34-8a09-8dfbb4f6629f c6143181-0581-4a20-9cae-d094d36312ae 1 94263182 94263182 C T SNP ABCA4 NM_000350.2 human genbank 54_36p -1 reviewed missense c.4550 p.R1517H 0.994 NULL HMMPfam_ABC_tran,HMMSmart_AAA,PatternScan_ABC_TRANSPORTER_1,superfamily_SSF52540 - no_errors 203 9 4.23 197 122 38.12 NA NA NA +DNMT3A 0 genome.wustl.edu 37 2 25468910 25468910 + Nonsense_Mutation SNP G G A TCGA-AB-2869-03A-01W-0761-09 TCGA-AB-2869-11A-01W-0732-08 G G G A G G Verified Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq 1 dbGAP Illumina HiSeq b123374d-2ce1-4a34-8a09-8dfbb4f6629f c6143181-0581-4a20-9cae-d094d36312ae 2 25322414 25322414 G A SNP DNMT3A NM_022552.3 human genbank 54_36p -1 reviewed nonsense c.1453 p.Q485* 1.000 NULL HMMPfam_PWWP,HMMSmart_SM00293,HMMPfam_DNA_methylase,superfamily_FYVE/PHD zinc finger,PatternScan_C5_MTASE_1,superfamily_S-adenosyl-L-methionine-dependent methyltransferases,superfamily_Tudor/PWWP/MBT - no_errors 16 1 5.88 44 46 51.11 37 15 28.85 +PAX3 0 genome.wustl.edu 37 2 223086090 223086090 + Missense_Mutation SNP C C T TCGA-AB-2869-03A-01W-0761-09 TCGA-AB-2869-11A-01W-0732-08 C C C T C C Verified Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq 1 dbGAP Illumina HiSeq b123374d-2ce1-4a34-8a09-8dfbb4f6629f c6143181-0581-4a20-9cae-d094d36312ae 2 222794334 222794334 C T SNP PAX3 NM_181459.4 human genbank 54_36p -1 reviewed missense c.809 p.R270H 1.000 HMMPfam_Homeobox,HMMSmart_SM00389,superfamily_Homeodomain-like,PatternScan_HOMEOBOX_1 HMMPfam_Homeobox,HMMSmart_SM00389,HMMPfam_PAX,HMMSmart_SM00351,PatternScan_PAIRED_1,superfamily_Homeodomain-like,PatternScan_HOMEOBOX_1 - no_errors 57 3 5.00 115 62 34.83 NA NA NA +ENPEP 0 genome.wustl.edu 37 4 111397708 111397708 + Silent SNP C C T TCGA-AB-2869-03A-01W-0761-09 TCGA-AB-2869-11A-01W-0732-08 C C C T C C Verified Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq 1 dbGAP Illumina HiSeq b123374d-2ce1-4a34-8a09-8dfbb4f6629f c6143181-0581-4a20-9cae-d094d36312ae 4 111617157 111617157 C T SNP ENPEP NM_001977.3 human genbank 54_36p +1 validated silent c.138 p.S46 0.000 NULL HMMPfam_Peptidase_M1,superfamily_Metalloproteases ("zincins") catalytic domain,superfamily_Leukotriene A4 hydrolase N-terminal domain - no_errors 57 10 14.93 117 106 47.32 NA NA NA +GPM6A 0 genome.wustl.edu 37 4 176573082 176573082 + Silent SNP G G A TCGA-AB-2869-03A-01W-0761-09 TCGA-AB-2869-11A-01W-0732-08 G G G A G G Verified Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq 1 dbGAP Illumina HiSeq b123374d-2ce1-4a34-8a09-8dfbb4f6629f c6143181-0581-4a20-9cae-d094d36312ae 4 176810076 176810076 G A SNP GPM6A NM_005277.3 human genbank 54_36p -1 validated silent c.444 p.T148 1.000 HMMPfam_Myelin_PLP HMMPfam_Myelin_PLP,HMMSmart_SM00002,PatternScan_MYELIN_PLP_1,PatternScan_MYELIN_PLP_2 - no_errors 14 0 0.00 56 49 46.23 NA NA NA +ATP10B 0 genome.wustl.edu 37 5 160025800 160025800 + Missense_Mutation SNP A A G TCGA-AB-2869-03A-01W-0761-09 TCGA-AB-2869-11A-01W-0732-08 A A A G A A Verified Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq 1 dbGAP Illumina HiSeq b123374d-2ce1-4a34-8a09-8dfbb4f6629f c6143181-0581-4a20-9cae-d094d36312ae 5 159958378 159958378 A G SNP ATP10B NM_025153.2 human genbank 54_36p -1 validated missense c.3541 p.Y1181H 0.993 NULL HMMPfam_E1-E2_ATPase,HMMPfam_Hydrolase_3,PatternScan_ATPASE_E1_E2,superfamily_HAD-like,superfamily_Calcium ATPase transduction domain A,superfamily_Metal cation-transporting ATPase ATP-binding domain N - no_errors 57 3 5.00 181 119 38.89 NA NA NA +LOC728843 0 genome.wustl.edu 37 5 165456283 165456283 + RNA SNP C C T TCGA-AB-2869-03A-01W-0761-09 TCGA-AB-2869-11A-01W-0732-08 C C C T C C Verified Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq 1 dbGAP Illumina HiSeq b123374d-2ce1-4a34-8a09-8dfbb4f6629f c6143181-0581-4a20-9cae-d094d36312ae 5 165388861 165388861 C T SNP LOC728843 XR_015391.1 human genbank 54_36p -1 model rna NULL NULL 0.997 - - - pseudogene 91 8 8.08 148 126 45.32 NA NA NA +LOC642943 0 genome.wustl.edu 37 9 95647547 95647547 + RNA SNP A A G TCGA-AB-2869-03A-01W-0761-09 TCGA-AB-2869-11A-01W-0732-08 A A A G A A Verified Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq 1 dbGAP Illumina HiSeq b123374d-2ce1-4a34-8a09-8dfbb4f6629f c6143181-0581-4a20-9cae-d094d36312ae 9 94687368 94687368 A G SNP LOC642943 XR_039168.1 human genbank 54_36p +1 model rna NULL NULL 0.127 - - - pseudogene 73 4 5.13 148 78 34.06 NA NA NA +C5 0 genome.wustl.edu 37 9 123732523 123732523 + Missense_Mutation SNP T T G TCGA-AB-2869-03A-01W-0761-09 TCGA-AB-2869-11A-01W-0732-08 T T T G T T Verified Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq 1 dbGAP Illumina HiSeq b123374d-2ce1-4a34-8a09-8dfbb4f6629f c6143181-0581-4a20-9cae-d094d36312ae 9 122772344 122772344 T G SNP C5 NM_001735.2 human genbank 54_36p -1 reviewed missense c.4087 p.T1363P 0.204 NULL HMMPfam_ANATO,HMMSmart_ANATO,PatternScan_ANAPHYLATOXIN_1,HMMPfam_A2M,HMMPfam_A2M_N,superfamily_Terp_cyc_toroid,HMMPfam_A2M_recep,superfamily_AM_receptor_bind,HMMPfam_A2M_N_2,HMMPfam_A2M_comp,superfamily_Anaphylatoxin,HMMPfam_NTR,HMMSmart_C345C,PatternScan_ALPHA_2_MACROGLOBULIN - no_errors 113 9 7.38 288 206 41.45 3 2 40.00 +CDH23 0 genome.wustl.edu 37 10 73461781 73461781 + Silent SNP G G T TCGA-AB-2869-03A-01W-0761-09 TCGA-AB-2869-11A-01W-0732-08 G G G T G G Verified Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq 1 dbGAP Illumina HiSeq b123374d-2ce1-4a34-8a09-8dfbb4f6629f c6143181-0581-4a20-9cae-d094d36312ae 10 73131787 73131787 G T SNP CDH23 NM_022124.4 human genbank 54_36p +1 reviewed silent c.2400 p.V800 1.000 HMMPfam_Cadherin,HMMSmart_SM00112,superfamily_Cadherin-like HMMPfam_Cadherin,HMMSmart_SM00112,PatternScan_CADHERIN_1,superfamily_Cadherin-like - no_errors 13 1 7.14 32 12 26.67 2 1 33.33 +SEMA6D 0 genome.wustl.edu 37 15 48056059 48056059 + Missense_Mutation SNP C C T TCGA-AB-2869-03A-01W-0761-09 TCGA-AB-2869-11A-01W-0732-08 C C C T C C Verified Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq 1 dbGAP Illumina HiSeq b123374d-2ce1-4a34-8a09-8dfbb4f6629f c6143181-0581-4a20-9cae-d094d36312ae 15 45843351 45843351 C T SNP SEMA6D NM_153618.1 human genbank 54_36p +1 reviewed missense c.760 p.R254C 1.000 HMMPfam_Sema,HMMSmart_SM00630,superfamily_Sema domain HMMPfam_Sema,HMMSmart_SM00630,superfamily_Sema domain,HMMPfam_PSI,HMMSmart_SM00423,superfamily_Plexin repeat - no_errors 213 8 3.62 296 177 37.03 NA NA NA +NFKBIZ 0 genome.wustl.edu 37 3 101576029 101576030 + Splice_Site INS - - ACTTTTAGAAAGCTTTAATAACC rs33981747 TCGA-AB-2869-03A-01W-0761-09 TCGA-AB-2869-11A-01W-0732-08 - - - ACTTTTAGAAAGCTTTAATAACC - - Verified Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq 1 dbGAP Illumina HiSeq b123374d-2ce1-4a34-8a09-8dfbb4f6629f c6143181-0581-4a20-9cae-d094d36312ae 3 103058719 103058720 - ACTTTTAGAAAGCTTTAATAACC INS NFKBIZ NM_031419.1 human genbank 54_36p +1 reviewed splice_site_ins c.1935+2_1935+1 e10+2 0.997:0.000 - - - no_errors NA NA NA NA NA NA NA NA NA +NPM1 0 genome.wustl.edu 37 5 170837544 170837545 + Frame_Shift_Ins INS - - CTGC TCGA-AB-2869-03A-01W-0761-09 TCGA-AB-2869-11A-01W-0732-08 - - - CTGC - - Verified Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq 1 dbGAP Illumina HiSeq b123374d-2ce1-4a34-8a09-8dfbb4f6629f c6143181-0581-4a20-9cae-d094d36312ae 5 170770149 170770150 - CTGC INS NPM1 NM_002520.1 human genbank 54_36p +1 validated frame_shift_ins c.860_861 p.W288fs 1.000:1.000 NULL HMMPfam_Nucleoplasmin,superfamily_Nucleoplasmin-like core domain - no_errors NA NA NA NA NA NA NA NA NA +FLT3 0 genome.wustl.edu 37 13 28608253 28608254 + In_Frame_Ins INS - - GATCATATTCATATTCTCCAAACTCTAAATTTTCTCTTGGAAACTCCCATTTGA TCGA-AB-2869-03A-01W-0761-09 TCGA-AB-2869-11A-01W-0732-08 - - - GATCATATTCATATTCTCCAAACTCTAAATTTTCTCTTGGAAACTCCCATTTGA - - Verified Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq 1 dbGAP Illumina HiSeq b123374d-2ce1-4a34-8a09-8dfbb4f6629f c6143181-0581-4a20-9cae-d094d36312ae 13 27506253 27506254 - GATCATATTCATATTCTCCAAACTCTAAATTTTCTCTTGGAAACTCCCATTTGA INS FLT3 NM_004119.2 human genbank 54_36p -1 reviewed in_frame_ins c.1803_1802 p.602in_frame_insQMGVSKRKFRVWRI*I*S 0.998:1.000 superfamily_Kinase_like HMMPfam_Pkinase_Tyr,HMMSmart_TyrKc,PatternScan_RECEPTOR_TYR_KIN_III,PatternScan_PROTEIN_KINASE_TYR,superfamily_Kinase_like,HMMPfam_ig,PatternScan_PROTEIN_KINASE_ATP,superfamily_SSF48726 - no_errors NA NA NA NA NA NA NA NA NA +ATG4C 0 genome.wustl.edu 37 1 63300494 63300494 + Missense_Mutation SNP G G T TCGA-AB-2870-03A-01W-0732-08 TCGA-AB-2870-11A-01W-0732-08 G G G T G G Verified Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq 1 dbGAP Illumina HiSeq 9ad67fd3-5750-42ab-b4e2-55133613a3e4 ab21f718-4b02-4b59-9590-a0de74285788 1 63073082 63073082 G T SNP ATG4C NM_032852.2 human genbank 54_36p +1 reviewed missense c.1060 p.D354Y 1.000 HMMPfam_Peptidase_C54 HMMPfam_Peptidase_C54 - no_errors 86 7 7.53 308 125 28.67 21 9 30.00 +NRAS 0 genome.wustl.edu 37 1 115256530 115256530 + Missense_Mutation SNP G G T rs121913254 TCGA-AB-2870-03A-01W-0732-08 TCGA-AB-2870-11A-01W-0732-08 G G G T G G Verified Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq 1 dbGAP Illumina HiSeq 9ad67fd3-5750-42ab-b4e2-55133613a3e4 ab21f718-4b02-4b59-9590-a0de74285788 1 115058053 115058053 G T SNP NRAS NM_002524.3 human genbank 54_36p -1 reviewed missense c.181 p.Q61K 1.000 HMMSmart_SM00173,HMMSmart_SM00174,HMMSmart_SM00175,HMMPfam_Ras,superfamily_P-loop containing nucleoside triphosphate hydrolases HMMSmart_SM00173,HMMSmart_SM00174,HMMSmart_SM00175,HMMPfam_Ras,superfamily_P-loop containing nucleoside triphosphate hydrolases - no_errors 73 3 3.95 245 55 18.21 96 16 14.29 +SEMA4A 0 genome.wustl.edu 37 1 156146280 156146280 + Missense_Mutation SNP A A G TCGA-AB-2870-03A-01W-0732-08 TCGA-AB-2870-11A-01W-0732-08 A A A G A A Verified Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq 1 dbGAP Illumina HiSeq 9ad67fd3-5750-42ab-b4e2-55133613a3e4 ab21f718-4b02-4b59-9590-a0de74285788 1 154412904 154412904 A G SNP SEMA4A NM_022367.2 human genbank 54_36p +1 provisional missense c.1778 p.H593R 0.437 NULL HMMPfam_Sema,HMMSmart_Sema,superfamily_Sema,HMMPfam_PSI,HMMSmart_PSI,superfamily_Plexin-like_fold - no_errors 229 31 11.92 348 314 47.08 58 43 42.16 +SPEG 0 genome.wustl.edu 37 2 220343888 220343888 + Nonsense_Mutation SNP C C T TCGA-AB-2870-03A-01W-0732-08 TCGA-AB-2870-11A-01W-0732-08 C C C T C C Verified Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq 1 dbGAP Illumina HiSeq 9ad67fd3-5750-42ab-b4e2-55133613a3e4 ab21f718-4b02-4b59-9590-a0de74285788 2 220052132 220052132 C T SNP SPEG NM_005876.4 human genbank 54_36p +1 validated nonsense c.5050 p.R1684* 0.643 HMMSmart_SM00220,superfamily_Protein kinase-like (PK-like),HMMPfam_Pkinase HMMSmart_SM00219,HMMSmart_SM00220,HMMSmart_SM00408,HMMSmart_SM00409,HMMPfam_fn3,HMMSmart_SM00060,PatternScan_PROTEIN_KINASE_ST,superfamily_Fibronectin type III,superfamily_Protein kinase-like (PK-like),HMMPfam_I-set,PatternScan_PROTEIN_KINASE_ATP,HMMPfam_Pkinase,superfamily_Immunoglobulin - no_errors 79 11 12.22 88 66 42.31 NA NA NA +COL12A1 0 genome.wustl.edu 37 6 75902048 75902048 + Missense_Mutation SNP G G A TCGA-AB-2870-03A-01W-0732-08 TCGA-AB-2870-11A-01W-0732-08 G G G A G G Verified Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq 1 dbGAP Illumina HiSeq 9ad67fd3-5750-42ab-b4e2-55133613a3e4 ab21f718-4b02-4b59-9590-a0de74285788 6 75958768 75958768 G A SNP COL12A1 NM_004370.5 human genbank 54_36p -1 reviewed missense c.214 p.L72F 1.000 HMMPfam_fn3,HMMSmart_SM00060,superfamily_Fibronectin type III HMMPfam_VWA,HMMSmart_SM00327,HMMSmart_SM00210,HMMPfam_fn3,HMMSmart_SM00060,HMMPfam_Collagen,superfamily_Fibronectin type III,superfamily_Concanavalin A-like lectins/glucanases,superfamily_vWA-like - no_errors 29 2 6.45 153 104 40.00 NA NA NA +OR10W1 0 genome.wustl.edu 37 11 58035232 58035232 + Silent SNP G G A TCGA-AB-2870-03A-01W-0732-08 TCGA-AB-2870-11A-01W-0732-08 G G G A G G Verified Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq 1 dbGAP Illumina HiSeq 9ad67fd3-5750-42ab-b4e2-55133613a3e4 ab21f718-4b02-4b59-9590-a0de74285788 11 57791808 57791808 G A SNP OR10W1 NM_207374.2 human genbank 54_36p -1 provisional silent c.99 p.N33 0.032 HMMPfam_7tm_1,superfamily_SSF81321 HMMPfam_7tm_1,PatternScan_G_PROTEIN_RECEP_F1_1,superfamily_SSF81321 - no_errors 90 13 12.62 262 219 44.97 NA NA NA +POLR3B 0 genome.wustl.edu 37 12 106770184 106770184 + Missense_Mutation SNP C C T TCGA-AB-2870-03A-01W-0732-08 TCGA-AB-2870-11A-01W-0732-08 C C C T C C Verified Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq 1 dbGAP Illumina HiSeq 9ad67fd3-5750-42ab-b4e2-55133613a3e4 ab21f718-4b02-4b59-9590-a0de74285788 12 105294314 105294314 C T SNP POLR3B NM_018082.4 human genbank 54_36p +1 provisional missense c.452 p.T151M 0.998 HMMPfam_RNA_pol_Rpb2_1,superfamily_beta and beta-prime subunits of DNA dependent RNA-polymerase HMMPfam_RNA_pol_Rpb2_6,PatternScan_RNA_POL_BETA,HMMPfam_RNA_pol_Rpb2_7,HMMPfam_RNA_pol_Rpb2_2,HMMPfam_RNA_pol_Rpb2_1,HMMPfam_RNA_pol_Rpb2_3,HMMPfam_RNA_pol_Rpb2_4,HMMPfam_RNA_pol_Rpb2_5,superfamily_beta and beta-prime subunits of DNA dependent RNA-polymerase - no_errors 96 6 5.88 188 131 40.31 3 7 70.00 +FLT3 0 genome.wustl.edu 37 13 28608258 28608275 + In_Frame_Ins DEL CATATTCATATTCTCTGA CATATTCATATTCTCTGA GGGGTGGGGGGG TCGA-AB-2870-03A-01W-0732-08 TCGA-AB-2870-11A-01W-0732-08 CATATTCATATTCTCTGA CATATTCATATTCTCTGA CATATTCATATTCTCTGA GGGGTGGGGGGG CATATTCATATTCTCTGA CATATTCATATTCTCTGA Verified Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq 1 dbGAP Illumina HiSeq 9ad67fd3-5750-42ab-b4e2-55133613a3e4 ab21f718-4b02-4b59-9590-a0de74285788 13 27506258 27506275 CATATTCATATTCTCTGA GGGGTGGGGGGG INS FLT3 NM_004119.2 human genbank 54_36p -1 reviewed in_frame_ins c.1798_1781 p.595in_frame_insPPTP 1.000:1.000:1.000:0.999:0.789:0.821:0.816:0.676:0.765:0.789:0.794:0.991:0.997:0.996:0.999:1.000:1.000:1.000 superfamily_Kinase_like HMMPfam_Pkinase_Tyr,HMMSmart_TyrKc,PatternScan_RECEPTOR_TYR_KIN_III,PatternScan_PROTEIN_KINASE_TYR,superfamily_Kinase_like,HMMPfam_ig,PatternScan_PROTEIN_KINASE_ATP,superfamily_SSF48726 - no_errors NA NA NA NA NA NA NA NA NA +HCN4 0 genome.wustl.edu 37 15 73624519 73624519 + Silent SNP G G A TCGA-AB-2870-03A-01W-0732-08 TCGA-AB-2870-11A-01W-0732-08 G G G A G G Verified Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq 1 dbGAP Illumina HiSeq 9ad67fd3-5750-42ab-b4e2-55133613a3e4 ab21f718-4b02-4b59-9590-a0de74285788 15 71411572 71411572 G A SNP HCN4 NM_005477.2 human genbank 54_36p -1 reviewed silent c.1324 p.L442 1.000 HMMPfam_Ion_trans,superfamily_SSF81324 HMMPfam_cNMP_binding,HMMSmart_cNMP,HMMPfam_Ion_trans,HMMPfam_Ion_trans_N,PatternScan_CNMP_BINDING_1,PatternScan_CNMP_BINDING_2,superfamily_cNMP_binding,superfamily_SSF81324 - no_errors 28 1 3.45 77 64 45.07 NA NA NA +NAGPA 0 genome.wustl.edu 37 16 5078916 5078916 + Silent SNP G G C TCGA-AB-2870-03A-01W-0732-08 TCGA-AB-2870-11A-01W-0732-08 G G G C G G Verified Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq 1 dbGAP Illumina HiSeq 9ad67fd3-5750-42ab-b4e2-55133613a3e4 ab21f718-4b02-4b59-9590-a0de74285788 16 5018917 5018917 G C SNP NAGPA NM_016256.2 human genbank 54_36p -1 reviewed silent c.885 p.L295 0.994 NULL HMMSmart_EGF,PatternScan_EGF_1,PatternScan_EGF_2,HMMPfam_EGF_2 - no_errors 59 6 9.09 75 82 51.25 21 27 56.25 +COL5A3 0 genome.wustl.edu 37 19 10112274 10112274 + Missense_Mutation SNP C C T TCGA-AB-2870-03A-01W-0732-08 TCGA-AB-2870-11A-01W-0732-08 C C C T C C Verified Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq 1 dbGAP Illumina HiSeq 9ad67fd3-5750-42ab-b4e2-55133613a3e4 ab21f718-4b02-4b59-9590-a0de74285788 19 9973274 9973274 C T SNP COL5A3 NM_015719.3 human genbank 54_36p -1 reviewed missense c.1036 p.G346R 0.014 NULL HMMPfam_COLFI,HMMSmart_SM00038,HMMSmart_SM00210,HMMPfam_Collagen,superfamily_Concanavalin A-like lectins/glucanases,HMMPfam_Laminin_G_2 - no_errors 117 7 5.65 205 138 40.00 NA NA NA +CDK13 0 genome.wustl.edu 37 7 40117659 40117659 + Frame_Shift_Del DEL A A - TCGA-AB-2870-03A-01W-0732-08 TCGA-AB-2870-11A-01W-0732-08 A A A - A A Verified Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq 1 dbGAP Illumina HiSeq 9ad67fd3-5750-42ab-b4e2-55133613a3e4 ab21f718-4b02-4b59-9590-a0de74285788 7 40084184 40084184 A - DEL CDC2L5 NM_003718.3 human genbank 54_36p +1 reviewed frame_shift_del c.2836 p.Y946fs 0.975 HMMSmart_SM00219,HMMSmart_SM00220,superfamily_Protein kinase-like (PK-like),HMMPfam_Pkinase HMMSmart_SM00219,HMMSmart_SM00220,PatternScan_PROTEIN_KINASE_ST,superfamily_Protein kinase-like (PK-like),PatternScan_PROTEIN_KINASE_ATP,HMMPfam_Pkinase - no_errors 1 0 0.00 5 0 0.00 0 0 0.00 +STAG2 0 genome.wustl.edu 37 X 123191828 123191828 + Splice_Site SNP G G A TCGA-AB-2871-03A-01W-0732-08 TCGA-AB-2871-11A-01W-0732-08 G G G A G G Verified Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq 1 dbGAP Illumina HiSeq 3e8efa46-6045-4be1-b41b-e7b98f165d24 6c7c2063-37fc-45fc-8401-6169345b8c05 X 123019509 123019509 G A SNP STAG2 NM_001042749.1 human genbank 54_36p +1 validated splice_site c.1416+1 e13+1 1.000 - - - no_errors 33 0 0.00 34 16 30.77 1 0 0.00 +ELF4 0 genome.wustl.edu 37 X 129205024 129205024 + Missense_Mutation SNP C C T TCGA-AB-2871-03A-01W-0732-08 TCGA-AB-2871-11A-01W-0732-08 C C C T C C Verified Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq 1 dbGAP Illumina HiSeq 3e8efa46-6045-4be1-b41b-e7b98f165d24 6c7c2063-37fc-45fc-8401-6169345b8c05 X 129032705 129032705 C T SNP ELF4 NM_001421.1 human genbank 54_36p -1 validated missense c.800 p.R267Q 1.000 HMMPfam_Ets,HMMSmart_ETS,PatternScan_ETS_DOMAIN_2,superfamily_SSF46785 HMMPfam_Ets,HMMSmart_ETS,PatternScan_ETS_DOMAIN_1,PatternScan_ETS_DOMAIN_2,superfamily_SSF46785 - no_errors 43 0 0.00 113 62 35.23 28 93 76.86 +THRAP3 0 genome.wustl.edu 37 1 36767160 36767160 + Nonsense_Mutation SNP C C T TCGA-AB-2871-03A-01W-0732-08 TCGA-AB-2871-11A-01W-0732-08 C C C T C C Verified Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq 1 dbGAP Illumina HiSeq 3e8efa46-6045-4be1-b41b-e7b98f165d24 6c7c2063-37fc-45fc-8401-6169345b8c05 1 36539747 36539747 C T SNP THRAP3 NM_005119.3 human genbank 54_36p +1 validated nonsense c.2509 p.R837* 0.969 NULL NULL - no_errors 135 0 0.00 128 26 16.46 35 3 7.89 +NEB 0 genome.wustl.edu 37 2 152419193 152419193 + Missense_Mutation SNP G G T TCGA-AB-2871-03A-01W-0732-08 TCGA-AB-2871-11A-01W-0732-08 G G G T G G Verified Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq 1 dbGAP Illumina HiSeq 3e8efa46-6045-4be1-b41b-e7b98f165d24 6c7c2063-37fc-45fc-8401-6169345b8c05 2 152127439 152127439 G T SNP NEB NM_004543.3 human genbank 54_36p -1 reviewed missense c.13720 p.Q4574K 1.000 HMMSmart_SM00227 HMMPfam_Nebulin,HMMSmart_SM00227,HMMPfam_SH3_1,HMMSmart_SM00326,superfamily_SH3-domain - no_errors 129 0 0.00 208 73 25.52 NA NA NA +RAP1GDS1 0 genome.wustl.edu 37 4 99264373 99264373 + Missense_Mutation SNP G G A TCGA-AB-2871-03A-01W-0732-08 TCGA-AB-2871-11A-01W-0732-08 G G G A G G Verified Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq 1 dbGAP Illumina HiSeq 3e8efa46-6045-4be1-b41b-e7b98f165d24 6c7c2063-37fc-45fc-8401-6169345b8c05 4 99483396 99483396 G A SNP RAP1GDS1 NM_001100426.1 human genbank 54_36p +1 validated missense c.199 p.A67T 1.000 superfamily_ARM repeat HMMPfam_Arm,HMMSmart_SM00185,superfamily_ARM repeat - no_errors 83 0 0.00 134 35 20.59 33 19 36.54 +PCDHB12 0 genome.wustl.edu 37 5 140589778 140589778 + Silent SNP C C T TCGA-AB-2871-03A-01W-0732-08 TCGA-AB-2871-11A-01W-0732-08 C C C T C C Verified Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq 1 dbGAP Illumina HiSeq 3e8efa46-6045-4be1-b41b-e7b98f165d24 6c7c2063-37fc-45fc-8401-6169345b8c05 5 140569962 140569962 C T SNP PCDHB12 NM_018932.3 human genbank 54_36p +1 reviewed silent c.1299 p.T433 0.000 HMMPfam_Cadherin,HMMSmart_CA,superfamily_Cadherin HMMPfam_Cadherin,HMMSmart_CA,PatternScan_CADHERIN_1,HMMPfam_Cadherin_2,superfamily_Cadherin - no_errors 30 0 0.00 60 18 22.50 NA NA NA +COL12A1 0 genome.wustl.edu 37 6 75860989 75860989 + Missense_Mutation SNP C C A TCGA-AB-2871-03A-01W-0732-08 TCGA-AB-2871-11A-01W-0732-08 C C C A C C Verified Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq 1 dbGAP Illumina HiSeq 3e8efa46-6045-4be1-b41b-e7b98f165d24 6c7c2063-37fc-45fc-8401-6169345b8c05 6 75917709 75917709 C A SNP COL12A1 NM_004370.5 human genbank 54_36p -1 reviewed missense c.4015 p.D1339Y 1.000 HMMPfam_VWA,HMMSmart_SM00327,superfamily_vWA-like HMMPfam_VWA,HMMSmart_SM00327,HMMSmart_SM00210,HMMPfam_fn3,HMMSmart_SM00060,HMMPfam_Collagen,superfamily_Fibronectin type III,superfamily_Concanavalin A-like lectins/glucanases,superfamily_vWA-like - no_errors 129 1 0.77 109 23 17.29 NA NA NA +TMEM55A 0 genome.wustl.edu 37 8 92007979 92007979 + Missense_Mutation SNP C C T TCGA-AB-2871-03A-01W-0732-08 TCGA-AB-2871-11A-01W-0732-08 C C C T C C Verified Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq 1 dbGAP Illumina HiSeq 3e8efa46-6045-4be1-b41b-e7b98f165d24 6c7c2063-37fc-45fc-8401-6169345b8c05 8 92077155 92077155 C T SNP TMEM55A NM_018710.2 human genbank 54_36p -1 validated missense c.700 p.G234R 1.000 HMMPfam_Tmemb_55A HMMPfam_Tmemb_55A - no_errors 49 1 2.00 134 37 21.64 4 7 63.64 +PTPN11 0 genome.wustl.edu 37 12 112926909 112926909 + Missense_Mutation SNP A A T rs121918470 TCGA-AB-2871-03A-01W-0732-08 TCGA-AB-2871-11A-01W-0732-08 A A A T A A Verified Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq 1 dbGAP Illumina HiSeq 3e8efa46-6045-4be1-b41b-e7b98f165d24 6c7c2063-37fc-45fc-8401-6169345b8c05 12 111411292 111411292 A T SNP PTPN11 NM_002834.3 human genbank 54_36p +1 reviewed missense c.1529 p.Q510L 1.000 HMMPfam_Y_phosphatase,HMMSmart_SM00194,HMMSmart_SM00404,superfamily_(Phosphotyrosine protein) phosphatases II HMMPfam_Y_phosphatase,HMMSmart_SM00194,HMMPfam_SH2,HMMSmart_SM00252,HMMSmart_SM00404,PatternScan_TYR_PHOSPHATASE_1,superfamily_(Phosphotyrosine protein) phosphatases II,superfamily_SH2 domain - no_errors 116 0 0.00 335 112 24.78 35 15 30.00 +ATG14 0 genome.wustl.edu 37 14 55852586 55852586 + Missense_Mutation SNP G G A TCGA-AB-2871-03A-01W-0732-08 TCGA-AB-2871-11A-01W-0732-08 G G G A G G Verified Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq 1 dbGAP Illumina HiSeq 3e8efa46-6045-4be1-b41b-e7b98f165d24 6c7c2063-37fc-45fc-8401-6169345b8c05 14 54922339 54922339 G A SNP KIAA0831 NM_014924.3 human genbank 54_36p -1 predicted missense c.638 p.T213M 0.819 HMMPfam_DUF2355 HMMPfam_DUF2355 - no_errors 117 0 0.00 199 58 22.39 15 15 50.00 +HEATR4 0 genome.wustl.edu 37 14 73989454 73989454 + Missense_Mutation SNP C C T TCGA-AB-2871-03A-01W-0732-08 TCGA-AB-2871-11A-01W-0732-08 C C C T C C Verified Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq 1 dbGAP Illumina HiSeq 3e8efa46-6045-4be1-b41b-e7b98f165d24 6c7c2063-37fc-45fc-8401-6169345b8c05 14 73059207 73059207 C T SNP HEATR4 NM_203309.1 human genbank 54_36p -1 provisional missense c.262 p.A88T 0.001 NULL HMMPfam_HEAT,superfamily_ARM-type_fold - no_errors 135 0 0.00 239 61 20.20 2 1 33.33 +VPS13C 0 genome.wustl.edu 37 15 62182560 62182560 + Missense_Mutation SNP T T C TCGA-AB-2871-03A-01W-0732-08 TCGA-AB-2871-11A-01W-0732-08 T T T C T T Verified Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq 1 dbGAP Illumina HiSeq 3e8efa46-6045-4be1-b41b-e7b98f165d24 6c7c2063-37fc-45fc-8401-6169345b8c05 15 59969852 59969852 T C SNP VPS13C NM_020821.1 human genbank 54_36p -1 validated missense c.9145 p.I3049V 1.000 NULL HMMPfam_DUF1162 - no_errors 114 0 0.00 121 36 22.78 58 21 26.58 +LRFN3 0 genome.wustl.edu 37 19 36435683 36435683 + Missense_Mutation SNP C C T TCGA-AB-2871-03A-01W-0732-08 TCGA-AB-2871-11A-01W-0732-08 C C C T C C Verified Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq 1 dbGAP Illumina HiSeq 3e8efa46-6045-4be1-b41b-e7b98f165d24 6c7c2063-37fc-45fc-8401-6169345b8c05 19 41127523 41127523 C T SNP LRFN3 NM_024509.1 human genbank 54_36p +1 provisional missense c.1649 p.S550L 0.979 NULL HMMSmart_LRRNT,HMMSmart_LRRCT,HMMPfam_LRR_1,HMMSmart_LRR_TYP,HMMSmart_IGc2,HMMPfam_fn3,HMMSmart_FN3,superfamily_FN_III-like,HMMPfam_I-set,superfamily_SSF48726,superfamily_SSF52058 - no_errors 27 0 0.00 72 15 17.24 5 0 0.00 +KCNJ6 0 genome.wustl.edu 37 21 39086792 39086792 + Missense_Mutation SNP C C T TCGA-AB-2871-03A-01W-0732-08 TCGA-AB-2871-11A-01W-0732-08 C C C T C C Verified Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq 1 dbGAP Illumina HiSeq 3e8efa46-6045-4be1-b41b-e7b98f165d24 6c7c2063-37fc-45fc-8401-6169345b8c05 21 38008662 38008662 C T SNP KCNJ6 NM_002240.2 human genbank 54_36p -1 reviewed missense c.668 p.R223Q 1.000 HMMPfam_IRK,superfamily_Ig_E-set HMMPfam_IRK,superfamily_Ig_E-set,superfamily_SSF81324 - no_errors 42 0 0.00 72 27 27.00 NA NA NA +NPM1 0 genome.wustl.edu 37 5 170837543 170837544 + Frame_Shift_Ins INS - - TCTG TCGA-AB-2871-03A-01W-0732-08 TCGA-AB-2871-11A-01W-0732-08 - - - TCTG - - Verified Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq 1 dbGAP Illumina HiSeq 3e8efa46-6045-4be1-b41b-e7b98f165d24 6c7c2063-37fc-45fc-8401-6169345b8c05 5 170770148 170770149 - TCTG INS NPM1 NM_002520.1 human genbank 54_36p +1 validated frame_shift_ins c.859_860 p.W288fs 1.000:1.000 NULL HMMPfam_Nucleoplasmin,superfamily_Nucleoplasmin-like core domain - no_errors NA NA NA NA NA NA NA NA NA +FLT3 0 genome.wustl.edu 37 13 28608262 28608263 + In_Frame_Ins INS - - TCATATTCTCTGAAATCAACGTAGAAGTACTCATTATCTGAGGAGCCGGTCACCTGTACCATC TCGA-AB-2871-03A-01W-0732-08 TCGA-AB-2871-11A-01W-0732-08 - - - TCATATTCTCTGAAATCAACGTAGAAGTACTCATTATCTGAGGAGCCGGTCACCTGTACCATC - - Verified Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq 1 dbGAP Illumina HiSeq 3e8efa46-6045-4be1-b41b-e7b98f165d24 6c7c2063-37fc-45fc-8401-6169345b8c05 13 27506262 27506263 - TCATATTCTCTGAAATCAACGTAGAAGTACTCATTATCTGAGGAGCCGGTCACCTGTACCATC INS FLT3 NM_004119.2 human genbank 54_36p -1 reviewed in_frame_ins c.1794_1793 p.599in_frame_insMVQVTGSSDNEYFYVDFREYE 0.789:0.821 superfamily_Kinase_like HMMPfam_Pkinase_Tyr,HMMSmart_TyrKc,PatternScan_RECEPTOR_TYR_KIN_III,PatternScan_PROTEIN_KINASE_TYR,superfamily_Kinase_like,HMMPfam_ig,PatternScan_PROTEIN_KINASE_ATP,superfamily_SSF48726 - no_errors NA NA NA NA NA NA NA NA NA +PCDH11X 0 genome.wustl.edu 37 X 91133089 91133089 + Missense_Mutation SNP C C T TCGA-AB-2872-03A-01W-0732-08 TCGA-AB-2872-11A-01W-0761-09 C C C T C C Verified Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq 1 dbGAP Illumina HiSeq 495c3e6d-76f1-499d-894b-761d50b70566 6bf7d555-2afc-4865-9b8f-97a5dd6609bd X 91019745 91019745 C T SNP PCDH11X NM_032968.1 human genbank 54_36p +1 reviewed missense c.1850 p.T617I 1.000 HMMPfam_Cadherin,HMMSmart_SM00112,superfamily_Cadherin-like HMMPfam_Cadherin,HMMSmart_SM00112,PatternScan_CADHERIN_1,HMMPfam_Cadherin_2,HMMPfam_Protocadherin,superfamily_Cadherin-like - no_errors 15 0 0.00 9 29 74.36 NA NA NA +TTN 0 genome.wustl.edu 37 2 179606055 179606055 + Missense_Mutation SNP C C T TCGA-AB-2872-03A-01W-0732-08 TCGA-AB-2872-11A-01W-0761-09 C C C T C C Verified Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq 1 dbGAP Illumina HiSeq 495c3e6d-76f1-499d-894b-761d50b70566 6bf7d555-2afc-4865-9b8f-97a5dd6609bd 2 179314300 179314300 C T SNP TTN ENST00000286104 human ensembl 54_36p -1 known missense c.11398 p.V3800I 0.951 HMMSmart_SM00408,HMMSmart_SM00409,HMMPfam_I-set PatternScan_IG_MHC,HMMSmart_SM00408,HMMSmart_SM00409,HMMPfam_fn3,HMMSmart_SM00060,HMMPfam_I-set,HMMPfam_ig,HMMPfam_Titin_Z,PatternScan_FGGY_KINASES_1 - no_stop_codon 102 2 1.92 143 105 42.00 NA NA NA +DCHS2 0 genome.wustl.edu 37 4 155156598 155156598 + Missense_Mutation SNP G G A TCGA-AB-2872-03A-01W-0732-08 TCGA-AB-2872-11A-01W-0761-09 G G G A G G Verified Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq 1 dbGAP Illumina HiSeq 495c3e6d-76f1-499d-894b-761d50b70566 6bf7d555-2afc-4865-9b8f-97a5dd6609bd 4 155376048 155376048 G A SNP DCHS2 NM_017639.1 human genbank 54_36p -1 validated missense c.7841 p.P2614L 0.038 NULL HMMPfam_Cadherin,HMMSmart_SM00112,PatternScan_CADHERIN_1,superfamily_Cadherin-like - no_errors 117 0 0.00 103 70 40.23 NA NA NA +NMUR2 0 genome.wustl.edu 37 5 151784257 151784257 + Missense_Mutation SNP C C T TCGA-AB-2872-03A-01W-0732-08 TCGA-AB-2872-11A-01W-0761-09 C C C T C C Verified Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq 1 dbGAP Illumina HiSeq 495c3e6d-76f1-499d-894b-761d50b70566 6bf7d555-2afc-4865-9b8f-97a5dd6609bd 5 151764450 151764450 C T SNP NMUR2 NM_020167.4 human genbank 54_36p -1 reviewed missense c.418 p.V140I 0.391 HMMPfam_7tm_1,PatternScan_G_PROTEIN_RECEP_F1_1,superfamily_Family A G protein-coupled receptor-like HMMPfam_7tm_1,PatternScan_G_PROTEIN_RECEP_F1_1,superfamily_Family A G protein-coupled receptor-like - no_errors 18 1 5.26 70 65 48.15 NA NA NA +SPDEF 0 genome.wustl.edu 37 6 34508852 34508852 + Silent SNP C C T TCGA-AB-2872-03A-01W-0732-08 TCGA-AB-2872-11A-01W-0761-09 C C C T C C Verified Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq 1 dbGAP Illumina HiSeq 495c3e6d-76f1-499d-894b-761d50b70566 6bf7d555-2afc-4865-9b8f-97a5dd6609bd 6 34616830 34616830 C T SNP SPDEF NM_012391.1 human genbank 54_36p -1 provisional silent c.543 p.K181 1.000 HMMPfam_SAM_PNT,HMMSmart_SAM_PNT,superfamily_SAM_homology HMMPfam_Ets,HMMSmart_ETS,PatternScan_ETS_DOMAIN_1,PatternScan_ETS_DOMAIN_2,HMMPfam_SAM_PNT,HMMSmart_SAM_PNT,superfamily_SAM_homology,superfamily_SSF46785 - no_errors 6 0 0.00 29 17 36.96 0 0 0.00 +TJAP1 0 genome.wustl.edu 37 6 43466819 43466819 + Missense_Mutation SNP G G T TCGA-AB-2872-03A-01W-0732-08 TCGA-AB-2872-11A-01W-0761-09 G G G T G G Verified Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq 1 dbGAP Illumina HiSeq 495c3e6d-76f1-499d-894b-761d50b70566 6bf7d555-2afc-4865-9b8f-97a5dd6609bd 6 43574797 43574797 G T SNP TJAP1 NM_080604.1 human genbank 54_36p +1 reviewed missense c.80 p.G27V 0.026 NULL NULL - no_errors 51 0 0.00 109 65 36.93 11 14 56.00 +SCAF8 0 genome.wustl.edu 37 6 155153900 155153900 + Missense_Mutation SNP C C A TCGA-AB-2872-03A-01W-0732-08 TCGA-AB-2872-11A-01W-0761-09 C C C A C C Verified Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq 1 dbGAP Illumina HiSeq 495c3e6d-76f1-499d-894b-761d50b70566 6bf7d555-2afc-4865-9b8f-97a5dd6609bd 6 155195592 155195592 C A SNP RBM16 NM_014892.3 human genbank 54_36p +1 validated missense c.3187 p.P1063T 1.000 NULL HMMPfam_RRM_1,HMMSmart_RRM,HMMSmart_RPR,HMMPfam_DUF618,superfamily_ENTH_VHS,superfamily_SSF54928 - no_errors 54 2 3.51 134 131 48.88 39 14 26.42 +LRRC4 0 genome.wustl.edu 37 7 127669227 127669227 + Silent SNP G G A TCGA-AB-2872-03A-01W-0732-08 TCGA-AB-2872-11A-01W-0761-09 G G G A G G Verified Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq 1 dbGAP Illumina HiSeq 495c3e6d-76f1-499d-894b-761d50b70566 6bf7d555-2afc-4865-9b8f-97a5dd6609bd 7 127456463 127456463 G A SNP LRRC4 NM_022143.4 human genbank 54_36p -1 validated silent c.1467 p.T489 1.000 NULL HMMPfam_LRRNT,HMMSmart_SM00013,HMMSmart_SM00082,HMMPfam_LRR_1,HMMSmart_SM00369,HMMSmart_SM00408,HMMSmart_SM00409,HMMPfam_I-set,superfamily_Immunoglobulin,superfamily_L domain-like - no_errors 12 0 0.00 69 13 15.85 12 0 0.00 +LOC401533 0 genome.wustl.edu 37 9 84703415 84703415 + RNA SNP C C T TCGA-AB-2872-03A-01W-0732-08 TCGA-AB-2872-11A-01W-0761-09 C C C T C C Verified Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq 1 dbGAP Illumina HiSeq 495c3e6d-76f1-499d-894b-761d50b70566 6bf7d555-2afc-4865-9b8f-97a5dd6609bd 9 83893235 83893235 C T SNP LOC401533 XR_016904.2 human genbank 54_36p -1 model rna NULL NULL 0.975 - - - pseudogene 74 0 0.00 18 64 76.19 3 0 0.00 +CTNNA3 0 genome.wustl.edu 37 10 68040231 68040231 + Silent SNP A A T TCGA-AB-2872-03A-01W-0732-08 TCGA-AB-2872-11A-01W-0761-09 A A A T A A Verified Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq 1 dbGAP Illumina HiSeq 495c3e6d-76f1-499d-894b-761d50b70566 6bf7d555-2afc-4865-9b8f-97a5dd6609bd 10 67710237 67710237 A T SNP CTNNA3 NM_013266.1 human genbank 54_36p -1 validated silent c.1881 p.I627 1.000 HMMPfam_Vinculin HMMPfam_Vinculin,superfamily_alpha-catenin/vinculin - no_errors 102 1 0.96 114 87 43.07 NA NA NA +DYRK4 0 genome.wustl.edu 37 12 4705861 4705861 + Missense_Mutation SNP C C T TCGA-AB-2872-03A-01W-0732-08 TCGA-AB-2872-11A-01W-0761-09 C C C T C C Verified Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq 1 dbGAP Illumina HiSeq 495c3e6d-76f1-499d-894b-761d50b70566 6bf7d555-2afc-4865-9b8f-97a5dd6609bd 12 4576122 4576122 C T SNP DYRK4 NM_003845.1 human genbank 54_36p +1 provisional missense c.526 p.R176C 1.000 HMMSmart_SM00219,HMMSmart_SM00220,superfamily_Protein kinase-like (PK-like),HMMPfam_Pkinase HMMSmart_SM00219,HMMSmart_SM00220,PatternScan_PROTEIN_KINASE_ST,superfamily_Protein kinase-like (PK-like),PatternScan_PROTEIN_KINASE_ATP,HMMPfam_Pkinase - no_errors 111 0 0.00 157 100 38.76 NA NA NA +TCL1A 0 genome.wustl.edu 37 14 96180354 96180354 + Missense_Mutation SNP C C T TCGA-AB-2872-03A-01W-0732-08 TCGA-AB-2872-11A-01W-0761-09 C C C T C C Verified Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq 1 dbGAP Illumina HiSeq 495c3e6d-76f1-499d-894b-761d50b70566 6bf7d555-2afc-4865-9b8f-97a5dd6609bd 14 95250107 95250107 C T SNP TCL1A NM_001098725.1 human genbank 54_36p -1 validated missense c.50 p.R17H 0.953 HMMPfam_TCL1_MTCP1,superfamily_TCL1_MTCP1 HMMPfam_TCL1_MTCP1,superfamily_TCL1_MTCP1 - no_errors 26 0 0.00 53 26 32.91 6 0 0.00 +EXD1 0 genome.wustl.edu 37 15 41482302 41482302 + Nonsense_Mutation SNP G G A TCGA-AB-2872-03A-01W-0732-08 TCGA-AB-2872-11A-01W-0761-09 G G G A G G Verified Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq 1 dbGAP Illumina HiSeq 495c3e6d-76f1-499d-894b-761d50b70566 6bf7d555-2afc-4865-9b8f-97a5dd6609bd 15 39269594 39269594 G A SNP EXD1 NM_152596.2 human genbank 54_36p -1 provisional nonsense c.715 p.R239* 0.496 HMMSmart_SM00474,superfamily_Ribonuclease H-like HMMPfam_3_5_exonuc,HMMSmart_SM00474,superfamily_Ribonuclease H-like - no_errors 91 2 2.15 99 63 38.41 NA NA NA +CALR 0 genome.wustl.edu 37 19 13051080 13051081 + Frame_Shift_Ins INS - - A TCGA-AB-2872-03A-01W-0732-08 TCGA-AB-2872-11A-01W-0761-09 - - - A - - Verified Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq 1 dbGAP Illumina HiSeq 495c3e6d-76f1-499d-894b-761d50b70566 6bf7d555-2afc-4865-9b8f-97a5dd6609bd 19 12912080 12912081 - A INS CALR NM_004343.3 human genbank 54_36p +1 reviewed frame_shift_ins c.516_517 p.T172fs 1.000:1.000 HMMPfam_Calreticulin,superfamily_Concanavalin A-like lectins/glucanases HMMPfam_Calreticulin,superfamily_Concanavalin A-like lectins/glucanases,PatternScan_CALRETICULIN_1,PatternScan_CALRETICULIN_2,PatternScan_CALRETICULIN_REPEAT - no_errors 43 2 4.44 82 34 29.31 3033 253 7.70 +LOC100134101 0 genome.wustl.edu 37 1 15484 15484 + RNA SNP G G A TCGA-AB-2873-03A-01W-0732-08 TCGA-AB-2873-11A-01W-0732-08 G G G A G G Verified Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq 1 dbGAP Illumina HiSeq 367f90fd-a9b2-4013-8711-5eae94cddbc0 11c547f7-adee-4958-a1a8-57298a71f25e 1 5347 5347 G A SNP LOC100134101 XR_036902.1 human genbank 54_36p -1 model rna NULL NULL 0.002 - - - pseudogene 8 0 0.00 9 1 10.00 25 0 0.00 +DNMT3A 0 genome.wustl.edu 37 2 25457242 25457242 + Missense_Mutation SNP C C T TCGA-AB-2873-03A-01W-0732-08 TCGA-AB-2873-11A-01W-0732-08 C C C T C C Verified Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq 1 dbGAP Illumina HiSeq 367f90fd-a9b2-4013-8711-5eae94cddbc0 11c547f7-adee-4958-a1a8-57298a71f25e 2 25310746 25310746 C T SNP DNMT3A NM_022552.3 human genbank 54_36p -1 reviewed missense c.2645 p.R882H 1.000 superfamily_S-adenosyl-L-methionine-dependent methyltransferases HMMPfam_PWWP,HMMSmart_SM00293,HMMPfam_DNA_methylase,superfamily_FYVE/PHD zinc finger,PatternScan_C5_MTASE_1,superfamily_S-adenosyl-L-methionine-dependent methyltransferases,superfamily_Tudor/PWWP/MBT - no_errors 37 23 38.33 99 48 32.43 13 8 38.10 +TET2 0 genome.wustl.edu 37 4 106157737 106157737 + Frame_Shift_Del DEL C C - TCGA-AB-2873-03A-01W-0732-08 TCGA-AB-2873-11A-01W-0732-08 C C C - C C Verified Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq 1 dbGAP Illumina HiSeq 367f90fd-a9b2-4013-8711-5eae94cddbc0 11c547f7-adee-4958-a1a8-57298a71f25e 4 106377186 106377186 C - DEL TET2 NM_017628.1 human genbank 54_36p +1 validated frame_shift_del c.2638 p.H880fs 0.255 NULL NULL - no_errors 29 6 17.14 51 34 37.78 45 50 51.55 +ETV3 0 genome.wustl.edu 37 1 157105311 157105311 + Missense_Mutation SNP C C T TCGA-AB-2874-03A-01W-0732-08 TCGA-AB-2874-11A-01W-0732-08 C C C T C C Verified Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq 1 dbGAP Illumina HiSeq 0f1fb2e2-2463-4e1d-af0b-069bc0144e88 69a5771e-80a6-4c0e-af50-c10f51c985f6 1 155371935 155371935 C T SNP ETV3 NM_005240.1 human genbank 54_36p -1 validated missense c.236 p.R79K 1.000 HMMPfam_Ets,HMMSmart_ETS,superfamily_SSF46785 HMMPfam_Ets,HMMSmart_ETS,PatternScan_ETS_DOMAIN_1,PatternScan_ETS_DOMAIN_2,superfamily_SSF46785 - no_errors 317 14 4.23 177 128 41.16 6 6 50.00 +GREM2 0 genome.wustl.edu 37 1 240656704 240656704 + Missense_Mutation SNP G G T TCGA-AB-2874-03A-01W-0732-08 TCGA-AB-2874-11A-01W-0732-08 G G G T G G Verified Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq 1 dbGAP Illumina HiSeq 0f1fb2e2-2463-4e1d-af0b-069bc0144e88 69a5771e-80a6-4c0e-af50-c10f51c985f6 1 238723327 238723327 G T SNP GREM2 NM_022469.3 human genbank 54_36p -1 reviewed missense c.72 p.N24K 1.000 NULL HMMPfam_DAN,HMMSmart_CT - no_errors 47 1 2.08 66 40 37.38 NA NA NA +OR6B2 0 genome.wustl.edu 37 2 240968952 240968952 + Missense_Mutation SNP C C A TCGA-AB-2874-03A-01W-0732-08 TCGA-AB-2874-11A-01W-0732-08 C C C A C C Verified Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq 1 dbGAP Illumina HiSeq 0f1fb2e2-2463-4e1d-af0b-069bc0144e88 69a5771e-80a6-4c0e-af50-c10f51c985f6 2 240617625 240617625 C A SNP OR6B2 NM_001005853.1 human genbank 54_36p -1 provisional missense c.895 p.D299Y 0.046 superfamily_Family A G protein-coupled receptor-like HMMPfam_7tm_1,PatternScan_G_PROTEIN_RECEP_F1_1,superfamily_Family A G protein-coupled receptor-like - no_errors 78 0 0.00 81 71 45.81 NA NA NA +ARMC3 0 genome.wustl.edu 37 10 23319672 23319672 + Silent SNP C C A TCGA-AB-2874-03A-01W-0732-08 TCGA-AB-2874-11A-01W-0732-08 C C C A C C Verified Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq 1 dbGAP Illumina HiSeq 0f1fb2e2-2463-4e1d-af0b-069bc0144e88 69a5771e-80a6-4c0e-af50-c10f51c985f6 10 23359678 23359678 C A SNP ARMC3 NM_173081.3 human genbank 54_36p +1 validated silent c.2193 p.T731 1.000 NULL HMMPfam_Arm,HMMSmart_SM00185,superfamily_ARM repeat - no_errors 332 7 2.05 168 142 45.08 NA NA NA +WT1 0 genome.wustl.edu 37 11 32413566 32413566 + Missense_Mutation SNP G G A rs121907900 TCGA-AB-2874-03A-01W-0732-08 TCGA-AB-2874-11A-01W-0732-08 G G G A G G Verified Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq 1 dbGAP Illumina HiSeq 0f1fb2e2-2463-4e1d-af0b-069bc0144e88 69a5771e-80a6-4c0e-af50-c10f51c985f6 11 32370142 32370142 G A SNP WT1 NM_024426.3 human genbank 54_36p -1 reviewed missense c.1384 p.R462W 1.000 HMMPfam_zf-C2H2,PatternScan_ZINC_FINGER_C2H2_1,HMMSmart_SM00355,superfamily_C2H2 and C2HC zinc fingers HMMPfam_WT1,HMMPfam_zf-C2H2,PatternScan_ZINC_FINGER_C2H2_1,HMMSmart_SM00355,superfamily_C2H2 and C2HC zinc fingers - no_errors 142 1 0.69 124 46 26.90 16 7 30.43 +CCDC60 0 genome.wustl.edu 37 12 119968731 119968731 + Missense_Mutation SNP G G A TCGA-AB-2874-03A-01W-0732-08 TCGA-AB-2874-11A-01W-0732-08 G G G A G G Verified Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq 1 dbGAP Illumina HiSeq 0f1fb2e2-2463-4e1d-af0b-069bc0144e88 69a5771e-80a6-4c0e-af50-c10f51c985f6 12 118453114 118453114 G A SNP CCDC60 NM_178499.3 human genbank 54_36p +1 validated missense c.1414 p.A472T 0.954 NULL NULL - no_errors 161 3 1.83 123 112 46.86 NA NA NA +SLITRK1 0 genome.wustl.edu 37 13 84454094 84454094 + Missense_Mutation SNP G G T TCGA-AB-2874-03A-01W-0732-08 TCGA-AB-2874-11A-01W-0732-08 G G G T G G Verified Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq 1 dbGAP Illumina HiSeq 0f1fb2e2-2463-4e1d-af0b-069bc0144e88 69a5771e-80a6-4c0e-af50-c10f51c985f6 13 83352095 83352095 G T SNP SLITRK1 NM_052910.1 human genbank 54_36p -1 validated missense c.1549 p.Q517K 1.000 superfamily_SSF52058 HMMSmart_LRRNT,HMMSmart_LRRCT,HMMPfam_LRR_1,HMMSmart_LRR_TYP,superfamily_SSF52058 - no_errors 161 7 4.17 70 61 46.21 NA NA NA +IDH2 0 genome.wustl.edu 37 15 90631934 90631934 + Missense_Mutation SNP C C T rs121913502 TCGA-AB-2874-03A-01W-0732-08 TCGA-AB-2874-11A-01W-0732-08 C C C T C C Verified Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq 1 dbGAP Illumina HiSeq 0f1fb2e2-2463-4e1d-af0b-069bc0144e88 69a5771e-80a6-4c0e-af50-c10f51c985f6 15 88432938 88432938 C T SNP IDH2 NM_002168.2 human genbank 54_36p -1 reviewed missense c.419 p.R140Q 1.000 HMMPfam_Iso_dh,superfamily_Isocitrate/Isopropylmalate dehydrogenase-like HMMPfam_Iso_dh,PatternScan_IDH_IMDH,superfamily_Isocitrate/Isopropylmalate dehydrogenase-like - no_errors 116 6 4.92 91 79 46.20 137 106 43.62 +MEFV 0 genome.wustl.edu 37 16 3299462 3299462 + Missense_Mutation SNP C C T TCGA-AB-2874-03A-01W-0732-08 TCGA-AB-2874-11A-01W-0732-08 C C C T C C Verified Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq 1 dbGAP Illumina HiSeq 0f1fb2e2-2463-4e1d-af0b-069bc0144e88 69a5771e-80a6-4c0e-af50-c10f51c985f6 16 3239463 3239463 C T SNP MEFV NM_000243.2 human genbank 54_36p -1 reviewed missense c.1229 p.R410H 0.025 HMMPfam_zf-B_box,HMMSmart_SM00336,superfamily_B-box zinc-binding domain HMMPfam_zf-B_box,HMMSmart_SM00336,HMMPfam_SPRY,HMMPfam_PAAD_DAPIN,HMMSmart_SM00589,superfamily_DEATH domain,HMMSmart_SM00449,superfamily_B-box zinc-binding domain - no_errors 140 2 1.40 61 75 54.74 NA NA NA +SMG1 0 genome.wustl.edu 37 16 18852940 18852940 + Missense_Mutation SNP A A G TCGA-AB-2874-03A-01W-0732-08 TCGA-AB-2874-11A-01W-0732-08 A A A G A A Verified Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq 1 dbGAP Illumina HiSeq 0f1fb2e2-2463-4e1d-af0b-069bc0144e88 69a5771e-80a6-4c0e-af50-c10f51c985f6 16 18760441 18760441 A G SNP SMG1 NM_015092.4 human genbank 54_36p -1 reviewed missense c.6643 p.F2215L 1.000 HMMPfam_PI3_PI4_kinase,HMMSmart_SM00146,superfamily_Protein kinase-like (PK-like) HMMPfam_HEAT,HMMPfam_PI3_PI4_kinase,HMMSmart_SM00146,HMMPfam_FATC,superfamily_Protein kinase-like (PK-like),superfamily_ARM repeat,PatternScan_PI3_4_KINASE_2 - no_errors 469 12 2.49 168 145 45.45 51 49 49.00 +GPATCH8 0 genome.wustl.edu 37 17 42475690 42475690 + Missense_Mutation SNP G G A TCGA-AB-2874-03A-01W-0732-08 TCGA-AB-2874-11A-01W-0732-08 G G G A G G Verified Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq 1 dbGAP Illumina HiSeq 0f1fb2e2-2463-4e1d-af0b-069bc0144e88 69a5771e-80a6-4c0e-af50-c10f51c985f6 17 39831216 39831216 G A SNP GPATCH8 NM_001002909.1 human genbank 54_36p -1 validated missense c.3755 p.T1252I 1.000 NULL HMMPfam_G-patch,HMMSmart_SM00443,PatternScan_ZINC_FINGER_C2H2_1 - no_errors 394 10 2.44 157 154 49.36 33 24 41.38 +CEBPA 0 genome.wustl.edu 37 19 33792423 33792423 + Missense_Mutation SNP G G A TCGA-AB-2874-03A-01W-0732-08 TCGA-AB-2874-11A-01W-0732-08 G G G A G G Verified Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq 1 dbGAP Illumina HiSeq 0f1fb2e2-2463-4e1d-af0b-069bc0144e88 69a5771e-80a6-4c0e-af50-c10f51c985f6 19 38484263 38484263 G A SNP CEBPA NM_004364.3 human genbank 54_36p -1 reviewed missense c.898 p.R300C 1.000 HMMSmart_BRLZ,HMMPfam_bZIP_2 HMMSmart_BRLZ,PatternScan_BZIP_BASIC,HMMPfam_bZIP_2 - no_errors 0 0 0.00 65 47 41.96 260 212 44.82 +PDCD2L 0 genome.wustl.edu 37 19 34904746 34904746 + Missense_Mutation SNP T T C TCGA-AB-2874-03A-01W-0732-08 TCGA-AB-2874-11A-01W-0732-08 T T T C T T Verified Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq 1 dbGAP Illumina HiSeq 0f1fb2e2-2463-4e1d-af0b-069bc0144e88 69a5771e-80a6-4c0e-af50-c10f51c985f6 19 39596586 39596586 T C SNP PDCD2L NM_032346.1 human genbank 54_36p +1 provisional missense c.791 p.I264T 1.000 HMMPfam_PDCD2_C HMMPfam_PDCD2_C - no_errors 206 6 2.82 86 71 44.94 3 3 50.00 +FCGBP 0 genome.wustl.edu 37 19 40384119 40384119 + Missense_Mutation SNP C C G TCGA-AB-2874-03A-01W-0732-08 TCGA-AB-2874-11A-01W-0732-08 C C C G C C Verified Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq 1 dbGAP Illumina HiSeq 0f1fb2e2-2463-4e1d-af0b-069bc0144e88 69a5771e-80a6-4c0e-af50-c10f51c985f6 19 45075959 45075959 C G SNP FCGBP NM_003890.2 human genbank 54_36p -1 validated missense c.9491 p.C3164S 1.000 superfamily_Cysrich_TIL,HMMPfam_TIL HMMSmart_VWC,HMMPfam_VWD,HMMSmart_VWD,superfamily_Cysrich_TIL,HMMPfam_TIL_assoc,HMMSmart_FOLN,HMMPfam_C8,HMMPfam_TIL - no_errors 375 3 0.79 193 45 18.83 NA NA NA +AURKC 0 genome.wustl.edu 37 19 57744037 57744037 + Missense_Mutation SNP C C T TCGA-AB-2874-03A-01W-0732-08 TCGA-AB-2874-11A-01W-0732-08 C C C T C C Verified Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq 1 dbGAP Illumina HiSeq 0f1fb2e2-2463-4e1d-af0b-069bc0144e88 69a5771e-80a6-4c0e-af50-c10f51c985f6 19 62435849 62435849 C T SNP AURKC NM_001015878.1 human genbank 54_36p +1 reviewed missense c.424 p.R142C 0.983 HMMSmart_SM00219,HMMSmart_SM00220,superfamily_Protein kinase-like (PK-like),HMMPfam_Pkinase HMMSmart_SM00219,HMMSmart_SM00220,PatternScan_PROTEIN_KINASE_ST,superfamily_Protein kinase-like (PK-like),PatternScan_PROTEIN_KINASE_ATP,HMMPfam_Pkinase - no_errors 250 1 0.40 156 27 14.67 1 0 0.00 +LOC257039 0 genome.wustl.edu 37 3 143574708 143574708 + Frame_Shift_Del DEL T T - TCGA-AB-2874-03A-01W-0732-08 TCGA-AB-2874-11A-01W-0732-08 T T T - T T Verified Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq 1 dbGAP Illumina HiSeq 0f1fb2e2-2463-4e1d-af0b-069bc0144e88 69a5771e-80a6-4c0e-af50-c10f51c985f6 3 145057398 145057398 T - DEL LOC257039 XM_172230.1 human genbank 54_36p -1 model frame_shift_del c.542 p.E181fs 1.000 HMMPfam_Ribosomal_S17e HMMPfam_Ribosomal_S17e - no_errors 110 0 0.00 70 70 47.95 0 0 0.00 +FLG 0 genome.wustl.edu 37 1 152277448 152277448 + Missense_Mutation SNP C C T TCGA-AB-2875-03A-01W-0732-08 TCGA-AB-2875-11A-01W-0732-08 C C C T C C Verified Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq 1 dbGAP Illumina HiSeq cbef6054-d359-4131-aa31-f1157d1eedf0 d438f139-6476-4e94-b41a-487b5120ffa2 1 150544072 150544072 C T SNP FLG NM_002016.1 human genbank 54_36p -1 provisional missense c.9914 p.R3305H 0.000 HMMPfam_Filaggrin PatternScan_S100_CABP,HMMPfam_Filaggrin,HMMPfam_S_100,PatternScan_EF_HAND_1,superfamily_SSF47473 - no_errors 168 2 1.18 118 49 28.99 NA NA NA +CADM3 0 genome.wustl.edu 37 1 159163315 159163315 + Missense_Mutation SNP G G A TCGA-AB-2875-03A-01W-0732-08 TCGA-AB-2875-11A-01W-0732-08 G G G A G G Verified Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq 1 dbGAP Illumina HiSeq cbef6054-d359-4131-aa31-f1157d1eedf0 d438f139-6476-4e94-b41a-487b5120ffa2 1 157429939 157429939 G A SNP CADM3 NM_021189.1 human genbank 54_36p +1 validated missense c.587 p.R196Q 0.991 HMMSmart_IG,HMMPfam_C2-set_2,superfamily_SSF48726 HMMSmart_4.1m,HMMSmart_IGc2,HMMSmart_IG,HMMPfam_V-set,HMMPfam_ig,HMMPfam_C2-set_2,superfamily_SSF48726 - no_errors 79 0 0.00 151 89 36.18 NA NA NA +MAP2 0 genome.wustl.edu 37 2 210558182 210558182 + Missense_Mutation SNP G G A TCGA-AB-2875-03A-01W-0732-08 TCGA-AB-2875-11A-01W-0732-08 G G G A G G Verified Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq 1 dbGAP Illumina HiSeq cbef6054-d359-4131-aa31-f1157d1eedf0 d438f139-6476-4e94-b41a-487b5120ffa2 2 210266427 210266427 G A SNP MAP2 NM_002374.1 human genbank 54_36p +1 reviewed missense c.1288 p.G430R 0.002 HMMPfam_MAP2_projctn HMMPfam_Tubulin-binding,PatternScan_TAU_MAP,HMMPfam_MAP2_projctn,HMMPfam_RII_binding_1 - no_errors 40 0 0.00 149 52 25.74 NA NA NA +MYLK 0 genome.wustl.edu 37 3 123427647 123427647 + Missense_Mutation SNP G G T TCGA-AB-2875-03A-01W-0732-08 TCGA-AB-2875-11A-01W-0732-08 G G G T G G Verified Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq 1 dbGAP Illumina HiSeq cbef6054-d359-4131-aa31-f1157d1eedf0 d438f139-6476-4e94-b41a-487b5120ffa2 3 124910337 124910337 G T SNP MYLK NM_053025.3 human genbank 54_36p -1 reviewed missense c.2038 p.L680I 1.000 HMMSmart_SM00408,HMMSmart_SM00409,HMMPfam_I-set,superfamily_Immunoglobulin HMMSmart_SM00219,HMMSmart_SM00220,HMMSmart_SM00408,HMMSmart_SM00409,HMMPfam_fn3,HMMSmart_SM00060,PatternScan_PROTEIN_KINASE_ST,superfamily_Fibronectin type III,superfamily_Protein kinase-like (PK-like),HMMPfam_I-set,PatternScan_PROTEIN_KINASE_ATP,HMMPfam_Pkinase,superfamily_Immunoglobulin - no_errors 121 0 0.00 105 57 34.76 NA NA NA +SULT1B1 0 genome.wustl.edu 37 4 70599886 70599886 + Missense_Mutation SNP C C T TCGA-AB-2875-03A-01W-0732-08 TCGA-AB-2875-11A-01W-0732-08 C C C T C C Verified Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq 1 dbGAP Illumina HiSeq cbef6054-d359-4131-aa31-f1157d1eedf0 d438f139-6476-4e94-b41a-487b5120ffa2 4 70634475 70634475 C T SNP SULT1B1 NM_014465.3 human genbank 54_36p -1 reviewed missense c.472 p.E158K 0.608 HMMPfam_Sulfotransfer_1,superfamily_SSF52540 HMMPfam_Sulfotransfer_1,superfamily_SSF52540 - no_errors 21 0 0.00 125 63 32.98 5 0 0.00 +BMPER 0 genome.wustl.edu 37 7 33945274 33945274 + Missense_Mutation SNP C C A TCGA-AB-2875-03A-01W-0732-08 TCGA-AB-2875-11A-01W-0732-08 C C C A C C Verified Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq 1 dbGAP Illumina HiSeq cbef6054-d359-4131-aa31-f1157d1eedf0 d438f139-6476-4e94-b41a-487b5120ffa2 7 33911799 33911799 C A SNP BMPER NM_133468.3 human genbank 54_36p +1 validated missense c.49 p.R17S 0.866 NULL HMMPfam_VWC,HMMSmart_VWC,PatternScan_VWFC_1,HMMPfam_VWD,HMMSmart_VWD,superfamily_Cysrich_TIL,HMMPfam_C8,HMMPfam_TIL - no_errors 42 0 0.00 34 18 33.96 NA NA NA +PPP1R3A 0 genome.wustl.edu 37 7 113518991 113518991 + Missense_Mutation SNP T T C TCGA-AB-2875-03A-01W-0732-08 TCGA-AB-2875-11A-01W-0732-08 T T T C T T Verified Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq 1 dbGAP Illumina HiSeq cbef6054-d359-4131-aa31-f1157d1eedf0 d438f139-6476-4e94-b41a-487b5120ffa2 7 113306227 113306227 T C SNP PPP1R3A NM_002711.3 human genbank 54_36p -1 reviewed missense c.2156 p.H719R 1.000 NULL HMMPfam_CBM_21 - no_errors 25 0 0.00 193 123 38.68 NA NA NA +DRD2 0 genome.wustl.edu 37 11 113281641 113281641 + Silent SNP G G A TCGA-AB-2875-03A-01W-0732-08 TCGA-AB-2875-11A-01W-0732-08 G G G A G G Verified Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq 1 dbGAP Illumina HiSeq cbef6054-d359-4131-aa31-f1157d1eedf0 d438f139-6476-4e94-b41a-487b5120ffa2 11 112786851 112786851 G A SNP DRD2 NM_000795.3 human genbank 54_36p -1 reviewed silent c.1140 p.G380 0.996 HMMPfam_7tm_1,superfamily_Family A G protein-coupled receptor-like HMMPfam_7tm_1,PatternScan_G_PROTEIN_RECEP_F1_1,superfamily_Family A G protein-coupled receptor-like - no_errors 269 2 0.74 115 78 39.59 NA NA NA +CEP290 0 genome.wustl.edu 37 12 88482885 88482885 + Missense_Mutation SNP G G A TCGA-AB-2875-03A-01W-0732-08 TCGA-AB-2875-11A-01W-0732-08 G G G A G G Verified Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq 1 dbGAP Illumina HiSeq cbef6054-d359-4131-aa31-f1157d1eedf0 d438f139-6476-4e94-b41a-487b5120ffa2 12 87007016 87007016 G A SNP CEP290 NM_025114.3 human genbank 54_36p -1 reviewed missense c.3953 p.T1318I 1.000 NULL NULL - no_errors 54 0 0.00 144 89 37.71 10 10 50.00 +FCGBP 0 genome.wustl.edu 37 19 40433435 40433435 + Silent SNP G G A TCGA-AB-2875-03A-01W-0732-08 TCGA-AB-2875-11A-01W-0732-08 G G G A G G Verified Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq 1 dbGAP Illumina HiSeq cbef6054-d359-4131-aa31-f1157d1eedf0 d438f139-6476-4e94-b41a-487b5120ffa2 19 45125275 45125275 G A SNP FCGBP NM_003890.2 human genbank 54_36p -1 validated silent c.834 p.Y278 0.223 NULL HMMSmart_VWC,HMMPfam_VWD,HMMSmart_VWD,superfamily_Cysrich_TIL,HMMPfam_TIL_assoc,HMMSmart_FOLN,HMMPfam_C8,HMMPfam_TIL - no_errors 291 1 0.34 117 49 29.34 1 0 0.00 +FLT3 0 genome.wustl.edu 37 13 28608261 28608262 + In_Frame_Ins INS - - TTCATATTCTCTGAAATCAACGTAGGCCAC TCGA-AB-2875-03A-01W-0732-08 TCGA-AB-2875-11A-01W-0732-08 - - - TTCATATTCTCTGAAATCAACGTAGGCCAC - - Verified Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq 1 dbGAP Illumina HiSeq cbef6054-d359-4131-aa31-f1157d1eedf0 d438f139-6476-4e94-b41a-487b5120ffa2 13 27506261 27506262 - TTCATATTCTCTGAAATCAACGTAGGCCAC INS FLT3 NM_004119.2 human genbank 54_36p -1 reviewed in_frame_ins c.1795_1794 p.598in_frame_insVAYVDFREYE 0.999:0.789 superfamily_Kinase_like HMMPfam_Pkinase_Tyr,HMMSmart_TyrKc,PatternScan_RECEPTOR_TYR_KIN_III,PatternScan_PROTEIN_KINASE_TYR,superfamily_Kinase_like,HMMPfam_ig,PatternScan_PROTEIN_KINASE_ATP,superfamily_SSF48726 - no_errors NA NA NA NA NA NA NA NA NA +BRS3 0 genome.wustl.edu 37 X 135574280 135574280 + Missense_Mutation SNP C C T TCGA-AB-2876-03A-01W-0732-08 TCGA-AB-2876-11A-01W-0732-08 C C C T C C Verified Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq 1 dbGAP Illumina HiSeq d48c086f-36b5-49ab-9e83-83520c701fd5 e4b17175-746c-47db-a509-7320119351b2 X 135401946 135401946 C T SNP BRS3 NM_001727.1 human genbank 54_36p +1 validated missense c.946 p.R316W 1.000 HMMPfam_7tm_1,superfamily_SSF81321 HMMPfam_7tm_1,PatternScan_G_PROTEIN_RECEP_F1_1,superfamily_SSF81321 - no_errors 104 5 4.59 52 44 45.83 NA NA NA +TDRD10 0 genome.wustl.edu 37 1 154516513 154516513 + Missense_Mutation SNP G G A TCGA-AB-2876-03A-01W-0732-08 TCGA-AB-2876-11A-01W-0732-08 G G G A G G Verified Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq 1 dbGAP Illumina HiSeq d48c086f-36b5-49ab-9e83-83520c701fd5 e4b17175-746c-47db-a509-7320119351b2 1 152783137 152783137 G A SNP TDRD10 NM_001098475.1 human genbank 54_36p +1 validated missense c.578 p.R193H 0.000 NULL HMMPfam_RRM_1,HMMSmart_SM00360,HMMPfam_TUDOR,superfamily_RNA-binding domain RBD,superfamily_Tudor/PWWP/MBT - no_errors 169 4 2.31 126 87 40.65 NA NA NA +TET2 0 genome.wustl.edu 37 4 106156540 106156540 + Nonsense_Mutation SNP C C T TCGA-AB-2876-03A-01W-0732-08 TCGA-AB-2876-11A-01W-0732-08 C C C T C C Verified Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq 1 dbGAP Illumina HiSeq d48c086f-36b5-49ab-9e83-83520c701fd5 e4b17175-746c-47db-a509-7320119351b2 4 106375989 106375989 C T SNP TET2 NM_017628.1 human genbank 54_36p +1 validated nonsense c.1441 p.Q481* 1.000 NULL NULL - no_errors 77 4 4.94 109 96 46.83 40 45 52.94 +SCARA5 0 genome.wustl.edu 37 8 27737199 27737199 + Missense_Mutation SNP C C T TCGA-AB-2876-03A-01W-0732-08 TCGA-AB-2876-11A-01W-0732-08 C C C T C C Verified Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq 1 dbGAP Illumina HiSeq d48c086f-36b5-49ab-9e83-83520c701fd5 e4b17175-746c-47db-a509-7320119351b2 8 27793118 27793118 C T SNP SCARA5 NM_173833.4 human genbank 54_36p -1 provisional missense c.1238 p.R413H 1.000 HMMPfam_SRCR,PatternScan_SRCR_1,HMMSmart_SM00202,superfamily_SRCR-like HMMPfam_SRCR,PatternScan_SRCR_1,HMMPfam_Collagen,HMMSmart_SM00202,superfamily_SRCR-like - no_errors 43 1 2.27 41 53 56.38 NA NA NA +MYO3A 0 genome.wustl.edu 37 10 26305785 26305785 + Missense_Mutation SNP G G A TCGA-AB-2876-03A-01W-0732-08 TCGA-AB-2876-11A-01W-0732-08 G G G A G G Verified Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq 1 dbGAP Illumina HiSeq d48c086f-36b5-49ab-9e83-83520c701fd5 e4b17175-746c-47db-a509-7320119351b2 10 26345791 26345791 G A SNP MYO3A NM_017433.4 human genbank 54_36p +1 reviewed missense c.545 p.R182Q 1.000 HMMSmart_S_TKc,superfamily_Kinase_like,HMMPfam_Pkinase HMMPfam_IQ,HMMSmart_IQ,HMMPfam_Myosin_head,HMMSmart_MYSc,HMMSmart_S_TKc,PatternScan_PROTEIN_KINASE_ST,superfamily_Kinase_like,PatternScan_PROTEIN_KINASE_ATP,HMMPfam_Pkinase,superfamily_SSF52540 - no_errors 51 0 0.00 82 62 43.06 NA NA NA +DPP3 0 genome.wustl.edu 37 11 66249800 66249800 + Silent SNP C C T TCGA-AB-2876-03A-01W-0732-08 TCGA-AB-2876-11A-01W-0732-08 C C C T C C Verified Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq 1 dbGAP Illumina HiSeq d48c086f-36b5-49ab-9e83-83520c701fd5 e4b17175-746c-47db-a509-7320119351b2 11 66006376 66006376 C T SNP DPP3 NM_005700.3 human genbank 54_36p +1 reviewed silent c.129 p.Y43 0.795 NULL HMMPfam_Peptidase_M49 - no_errors 66 1 1.49 46 27 36.99 19 22 53.66 +EED 0 genome.wustl.edu 37 11 85961447 85961447 + Nonsense_Mutation SNP C C A TCGA-AB-2876-03A-01W-0732-08 TCGA-AB-2876-11A-01W-0732-08 C C C A C C Verified Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq 1 dbGAP Illumina HiSeq d48c086f-36b5-49ab-9e83-83520c701fd5 e4b17175-746c-47db-a509-7320119351b2 11 85639095 85639095 C A SNP EED NM_003797.2 human genbank 54_36p +1 reviewed nonsense c.224 p.S75* 1.000 NULL HMMSmart_SM00320,superfamily_WD40 repeat-like,PatternScan_WD_REPEATS_1,HMMPfam_WD40 - no_errors 82 4 4.65 102 57 35.85 10 5 33.33 +MYF5 0 genome.wustl.edu 37 12 81110903 81110903 + Missense_Mutation SNP A A G TCGA-AB-2876-03A-01W-0732-08 TCGA-AB-2876-11A-01W-0732-08 A A A G A A Verified Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq 1 dbGAP Illumina HiSeq d48c086f-36b5-49ab-9e83-83520c701fd5 e4b17175-746c-47db-a509-7320119351b2 12 79635034 79635034 A G SNP MYF5 NM_005593.2 human genbank 54_36p +1 validated missense c.61 p.I21V 0.999 HMMPfam_Basic,HMMSmart_BASIC HMMPfam_HLH,HMMSmart_HLH,HMMPfam_Basic,HMMSmart_BASIC,superfamily_HLH_basic - no_errors 33 3 8.33 44 21 32.31 NA NA NA +SMCHD1 0 genome.wustl.edu 37 18 2763718 2763718 + Silent SNP T T C TCGA-AB-2876-03A-01W-0732-08 TCGA-AB-2876-11A-01W-0732-08 T T T C T T Verified Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq 1 dbGAP Illumina HiSeq d48c086f-36b5-49ab-9e83-83520c701fd5 e4b17175-746c-47db-a509-7320119351b2 18 2753718 2753718 T C SNP SMCHD1 NM_015295.2 human genbank 54_36p +1 validated silent c.4650 p.D1550 0.919 NULL HMMPfam_HATPase_c,superfamily_ATPase domain of HSP90 chaperone/DNA topoisomerase II/histidine kinase,HMMPfam_SMC_hinge,superfamily_Smc hinge domain - no_errors 49 3 5.77 57 50 46.73 47 41 46.59 +MEX3C 0 genome.wustl.edu 37 18 48702766 48702766 + Silent SNP T T C TCGA-AB-2876-03A-01W-0732-08 TCGA-AB-2876-11A-01W-0732-08 T T T C T T Verified Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq 1 dbGAP Illumina HiSeq d48c086f-36b5-49ab-9e83-83520c701fd5 e4b17175-746c-47db-a509-7320119351b2 18 46956764 46956764 T C SNP MEX3C NM_016626.3 human genbank 54_36p -1 validated silent c.1935 p.P645 1.000 HMMSmart_RING,HMMPfam_zf-C3HC4,superfamily_SSF57850 HMMSmart_RING,HMMSmart_KH,PatternScan_ZF_RING_1,HMMPfam_KH_1,HMMPfam_zf-C3HC4,superfamily_SSF54791,superfamily_SSF57850 - no_errors 116 3 2.52 83 74 47.13 21 31 59.62 +BPIFB2 0 genome.wustl.edu 37 20 31601736 31601736 + Silent SNP C C T TCGA-AB-2876-03A-01W-0732-08 TCGA-AB-2876-11A-01W-0732-08 C C C T C C Verified Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq 1 dbGAP Illumina HiSeq d48c086f-36b5-49ab-9e83-83520c701fd5 e4b17175-746c-47db-a509-7320119351b2 20 31065397 31065397 C T SNP BPIL1 NM_025227.1 human genbank 54_36p +1 reviewed silent c.429 p.H143 0.000 HMMPfam_LBP_BPI_CETP,superfamily_Bactericidal permeability-increasing protein BPI HMMPfam_LBP_BPI_CETP_C,HMMSmart_SM00329,HMMPfam_LBP_BPI_CETP,superfamily_Bactericidal permeability-increasing protein BPI - no_errors 67 7 9.46 47 47 50.00 NA NA NA +TET2 0 genome.wustl.edu 37 4 106157113 106157113 + Frame_Shift_Del DEL A A - TCGA-AB-2876-03A-01W-0732-08 TCGA-AB-2876-11A-01W-0732-08 A A A - A A Verified Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq 1 dbGAP Illumina HiSeq d48c086f-36b5-49ab-9e83-83520c701fd5 e4b17175-746c-47db-a509-7320119351b2 4 106376562 106376562 A - DEL TET2 NM_017628.1 human genbank 54_36p +1 validated frame_shift_del c.2014 p.H672fs 0.114 NULL NULL - no_errors 0 0 0.00 0 0 0.00 0 0 0.00 +PHACTR1 0 genome.wustl.edu 37 6 13206134 13206135 + Frame_Shift_Ins INS - - G TCGA-AB-2876-03A-01W-0732-08 TCGA-AB-2876-11A-01W-0732-08 - - - G - - Verified Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq 1 dbGAP Illumina HiSeq d48c086f-36b5-49ab-9e83-83520c701fd5 e4b17175-746c-47db-a509-7320119351b2 6 13314113 13314114 - G INS PHACTR1 NM_030948.1 human genbank 54_36p +1 validated frame_shift_ins c.752_753 p.P254fs 0.638:0.521 NULL HMMPfam_RPEL,HMMSmart_SM00707 - no_errors 12 0 0.00 34 7 17.07 10 0 0.00 +USP11 0 genome.wustl.edu 37 X 47104803 47104803 + Missense_Mutation SNP T T A TCGA-AB-2877-03A-01W-0732-08 TCGA-AB-2877-11A-01W-0732-08 T T T A T T Verified Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq 1 dbGAP Illumina HiSeq 166d3943-4006-4434-9af3-4ba8e86b6ac6 a109df8d-1667-48a5-a2bc-91d25851124a X 46989747 46989747 T A SNP USP11 NM_004651.3 human genbank 54_36p +1 reviewed missense c.2321 p.M774K 0.993 HMMPfam_UCH,superfamily_SSF54001 HMMPfam_UCH,HMMSmart_DUSP,HMMPfam_DUF1055,PatternScan_UCH_2_1,PatternScan_UCH_2_2,superfamily_SSF54001 - no_errors 58 2 3.33 82 67 44.37 99 0 0.00 +GPR112 0 genome.wustl.edu 37 X 135431546 135431546 + Missense_Mutation SNP C C T TCGA-AB-2877-03A-01W-0732-08 TCGA-AB-2877-11A-01W-0732-08 C C C T C C Verified Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq 1 dbGAP Illumina HiSeq 166d3943-4006-4434-9af3-4ba8e86b6ac6 a109df8d-1667-48a5-a2bc-91d25851124a X 135259212 135259212 C T SNP GPR112 NM_153834.3 human genbank 54_36p +1 validated missense c.5681 p.P1894L 0.002 NULL HMMPfam_GPS,HMMSmart_GPS,HMMPfam_7tm_2,superfamily_ConA_like_lec_gl,PatternScan_G_PROTEIN_RECEP_F2_2 - no_errors 111 1 0.88 195 115 36.98 NA NA NA +ENSG00000211619 0 genome.wustl.edu 37 2 89630099 89630099 + Missense_Mutation SNP C C T TCGA-AB-2877-03A-01W-0732-08 TCGA-AB-2877-11A-01W-0732-08 C C C T C C Verified Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq 1 dbGAP Illumina HiSeq 166d3943-4006-4434-9af3-4ba8e86b6ac6 a109df8d-1667-48a5-a2bc-91d25851124a 2 89411214 89411214 C T SNP ENSG00000211619 ENST00000390264 human ensembl 54_36p -1 known missense c.95 p.S32N 0.823 HMMSmart_IGv,HMMPfam_V-set,superfamily_SSF48726 HMMSmart_IGv,HMMPfam_V-set,superfamily_SSF48726 - no_start_codon:no_stop_codon:bad_bp_length_for_coding_region 62 1 1.59 87 30 25.42 0 0 0.00 +LRRC58 0 genome.wustl.edu 37 3 120050085 120050085 + Missense_Mutation SNP C C T TCGA-AB-2877-03A-01W-0732-08 TCGA-AB-2877-11A-01W-0732-08 C C C T C C Verified Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq 1 dbGAP Illumina HiSeq 166d3943-4006-4434-9af3-4ba8e86b6ac6 a109df8d-1667-48a5-a2bc-91d25851124a 3 121532775 121532775 C T SNP LRRC58 NM_001099678.1 human genbank 54_36p -1 validated missense c.1078 p.V360I 1.000 NULL HMMPfam_LRR_1,HMMSmart_LRR_TYP,superfamily_SSF52058 - no_errors 89 1 1.11 92 65 41.14 12 10 45.45 +ILDR1 0 genome.wustl.edu 37 3 121712623 121712623 + Missense_Mutation SNP C C T TCGA-AB-2877-03A-01W-0732-08 TCGA-AB-2877-11A-01W-0732-08 C C C T C C Verified Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq 1 dbGAP Illumina HiSeq 166d3943-4006-4434-9af3-4ba8e86b6ac6 a109df8d-1667-48a5-a2bc-91d25851124a 3 123195313 123195313 C T SNP ILDR1 NM_175924.2 human genbank 54_36p -1 provisional missense c.841 p.V281M 0.057 NULL HMMSmart_IG,HMMPfam_LSR,superfamily_SSF48726 - no_errors 104 0 0.00 159 104 39.25 1 1 50.00 +KLF15 0 genome.wustl.edu 37 3 126071369 126071369 + Missense_Mutation SNP C C T TCGA-AB-2877-03A-01W-0732-08 TCGA-AB-2877-11A-01W-0732-08 C C C T C C Verified Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq 1 dbGAP Illumina HiSeq 166d3943-4006-4434-9af3-4ba8e86b6ac6 a109df8d-1667-48a5-a2bc-91d25851124a 3 127554059 127554059 C T SNP KLF15 NM_014079.3 human genbank 54_36p -1 validated missense c.397 p.V133I 0.026 NULL HMMPfam_zf-C2H2,PatternScan_ZINC_FINGER_C2H2_1,HMMSmart_ZnF_C2H2,superfamily_SSF57667 - no_errors 13 0 0.00 14 18 56.25 1 0 0.00 +PMS2P5 0 genome.wustl.edu 37 7 74306962 74306962 + Missense_Mutation SNP G G C TCGA-AB-2877-03A-01W-0732-08 TCGA-AB-2877-11A-01W-0732-08 G G G C G G Verified Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq 1 dbGAP Illumina HiSeq 166d3943-4006-4434-9af3-4ba8e86b6ac6 a109df8d-1667-48a5-a2bc-91d25851124a 7 73944898 73944898 G C SNP PMS2L5 ENST00000337023 human ensembl 54_36p +1 known missense c.65 p.W22S 0.000 NULL NULL - no_start_codon 101 3 2.88 51 17 25.00 3 0 0.00 +STEAP1 0 genome.wustl.edu 37 7 89790158 89790158 + Missense_Mutation SNP G G A TCGA-AB-2877-03A-01W-0732-08 TCGA-AB-2877-11A-01W-0732-08 G G G A G G Verified Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq 1 dbGAP Illumina HiSeq 166d3943-4006-4434-9af3-4ba8e86b6ac6 a109df8d-1667-48a5-a2bc-91d25851124a 7 89628094 89628094 G A SNP STEAP1 NM_012449.2 human genbank 54_36p +1 reviewed missense c.124 p.V42M 0.191 NULL HMMPfam_Ferric_reduct - no_errors 106 1 0.92 128 71 35.15 NA NA NA +FAM40B 0 genome.wustl.edu 37 7 129091522 129091522 + Missense_Mutation SNP C C T TCGA-AB-2877-03A-01W-0732-08 TCGA-AB-2877-11A-01W-0732-08 C C C T C C Verified Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq 1 dbGAP Illumina HiSeq 166d3943-4006-4434-9af3-4ba8e86b6ac6 a109df8d-1667-48a5-a2bc-91d25851124a 7 128878758 128878758 C T SNP FAM40B NM_020704.1 human genbank 54_36p +1 validated missense c.343 p.R115W 1.000 HMMPfam_N1221 HMMPfam_N1221 - no_errors 124 1 0.80 81 56 40.88 1 2 66.67 +XKR4 0 genome.wustl.edu 37 8 56436028 56436028 + Missense_Mutation SNP C C A TCGA-AB-2877-03A-01W-0732-08 TCGA-AB-2877-11A-01W-0732-08 C C C A C C Verified Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq 1 dbGAP Illumina HiSeq 166d3943-4006-4434-9af3-4ba8e86b6ac6 a109df8d-1667-48a5-a2bc-91d25851124a 8 56598582 56598582 C A SNP XKR4 NM_052898.1 human genbank 54_36p +1 provisional missense c.1195 p.L399M 1.000 HMMPfam_XK-related HMMPfam_XK-related - no_errors 177 2 1.10 160 139 46.03 NA NA NA +PRG-3 0 genome.wustl.edu 37 9 104086335 104086335 + Missense_Mutation SNP C C T TCGA-AB-2877-03A-01W-0732-08 TCGA-AB-2877-11A-01W-0732-08 C C C T C C Verified Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq 1 dbGAP Illumina HiSeq 166d3943-4006-4434-9af3-4ba8e86b6ac6 a109df8d-1667-48a5-a2bc-91d25851124a 9 103126156 103126156 C T SNP PRG-3 NM_017753.2 human genbank 54_36p +1 reviewed missense c.974 p.T325I 1.000 NULL HMMPfam_PAP2,HMMSmart_acidPPc,superfamily_AcPase_VanPerase - no_errors 175 2 1.13 142 85 37.12 NA NA NA +FLRT1 0 genome.wustl.edu 37 11 63884184 63884184 + Missense_Mutation SNP C C T TCGA-AB-2877-03A-01W-0732-08 TCGA-AB-2877-11A-01W-0732-08 C C C T C C Verified Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq 1 dbGAP Illumina HiSeq 166d3943-4006-4434-9af3-4ba8e86b6ac6 a109df8d-1667-48a5-a2bc-91d25851124a 11 63640760 63640760 C T SNP FLRT1 NM_013280.4 human genbank 54_36p +1 reviewed missense c.445 p.R149C 0.943 HMMPfam_LRR_1,HMMSmart_SM00369,superfamily_L domain-like HMMPfam_LRRNT,HMMSmart_SM00013,HMMSmart_SM00082,HMMPfam_LRR_1,HMMSmart_SM00369,HMMPfam_fn3,HMMSmart_SM00364,superfamily_L domain-like - no_errors 21 0 0.00 32 20 38.46 4 0 0.00 +ELMOD1 0 genome.wustl.edu 37 11 107501281 107501281 + Missense_Mutation SNP G G A TCGA-AB-2877-03A-01W-0732-08 TCGA-AB-2877-11A-01W-0732-08 G G G A G G Verified Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq 1 dbGAP Illumina HiSeq 166d3943-4006-4434-9af3-4ba8e86b6ac6 a109df8d-1667-48a5-a2bc-91d25851124a 11 107006491 107006491 G A SNP ELMOD1 NM_018712.1 human genbank 54_36p +1 validated missense c.156 p.M52I 1.000 NULL HMMPfam_ELMO_CED12 - no_errors 159 3 1.84 166 113 40.07 NA NA NA +IGSF9B 0 genome.wustl.edu 37 11 133814258 133814258 + Missense_Mutation SNP C C T TCGA-AB-2877-03A-01W-0732-08 TCGA-AB-2877-11A-01W-0732-08 C C C T C C Verified Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq 1 dbGAP Illumina HiSeq 166d3943-4006-4434-9af3-4ba8e86b6ac6 a109df8d-1667-48a5-a2bc-91d25851124a 11 133319468 133319468 C T SNP IGSF9B NM_014987.1 human genbank 54_36p -1 validated missense c.266 p.R89Q 1.000 HMMSmart_IG,HMMPfam_V-set,superfamily_SSF48726 HMMSmart_IGc2,HMMSmart_IG,HMMPfam_fn3,HMMSmart_FN3,superfamily_FN_III-like,HMMPfam_I-set,HMMPfam_V-set,superfamily_SSF48726 - no_errors 40 2 4.76 42 28 40.00 NA NA NA +TROAP 0 genome.wustl.edu 37 12 49722966 49722966 + Missense_Mutation SNP G G A TCGA-AB-2877-03A-01W-0732-08 TCGA-AB-2877-11A-01W-0732-08 G G G A G G Verified Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq 1 dbGAP Illumina HiSeq 166d3943-4006-4434-9af3-4ba8e86b6ac6 a109df8d-1667-48a5-a2bc-91d25851124a 12 48009233 48009233 G A SNP TROAP NM_005480.1 human genbank 54_36p +1 validated missense c.1043 p.R348H 0.009 NULL NULL - no_errors 160 9 5.33 145 106 41.90 12 11 47.83 +SACS 0 genome.wustl.edu 37 13 23928871 23928871 + Missense_Mutation SNP G G A TCGA-AB-2877-03A-01W-0732-08 TCGA-AB-2877-11A-01W-0732-08 G G G A G G Verified Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq 1 dbGAP Illumina HiSeq 166d3943-4006-4434-9af3-4ba8e86b6ac6 a109df8d-1667-48a5-a2bc-91d25851124a 13 22826871 22826871 G A SNP SACS NM_014363.4 human genbank 54_36p -1 validated missense c.1439 p.T480M 1.000 NULL superfamily_Chaperone J-domain,superfamily_ATPase domain of HSP90 chaperone/DNA topoisomerase II/histidine kinase,HMMPfam_HEPN,HMMSmart_SM00748,superfamily_Nucleotidyltransferase substrate binding subunit/domain - no_errors 34 0 0.00 48 47 49.47 6 4 40.00 +ADAM21P1 0 genome.wustl.edu 37 14 70712652 70712652 + RNA SNP C C T TCGA-AB-2877-03A-01W-0732-08 TCGA-AB-2877-11A-01W-0732-08 C C C T C C Verified Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq 1 dbGAP Illumina HiSeq 166d3943-4006-4434-9af3-4ba8e86b6ac6 a109df8d-1667-48a5-a2bc-91d25851124a 14 69782405 69782405 C T SNP ADAM21P NR_003951.1 human genbank 54_36p -1 validated rna NULL NULL 0.004 - - - pseudogene 163 1 0.61 150 52 25.62 NA NA NA +FLRT2 0 genome.wustl.edu 37 14 86088113 86088113 + Silent SNP C C T TCGA-AB-2877-03A-01W-0732-08 TCGA-AB-2877-11A-01W-0732-08 C C C T C C Verified Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq 1 dbGAP Illumina HiSeq 166d3943-4006-4434-9af3-4ba8e86b6ac6 a109df8d-1667-48a5-a2bc-91d25851124a 14 85157866 85157866 C T SNP FLRT2 NM_013231.4 human genbank 54_36p +1 reviewed silent c.255 p.H85 1.000 superfamily_SSF52058 HMMPfam_LRRNT,HMMSmart_LRRNT,HMMPfam_LRRCT,HMMSmart_LRRCT,HMMPfam_LRR_1,HMMSmart_LRR_TYP,HMMPfam_fn3,HMMSmart_FN3,superfamily_FN_III-like,superfamily_SSF52058 - no_errors 78 2 2.47 101 82 44.32 NA NA NA +IDH2 0 genome.wustl.edu 37 15 90631934 90631934 + Missense_Mutation SNP C C T rs121913502 TCGA-AB-2877-03A-01W-0732-08 TCGA-AB-2877-11A-01W-0732-08 C C C T C C Verified Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq 1 dbGAP Illumina HiSeq 166d3943-4006-4434-9af3-4ba8e86b6ac6 a109df8d-1667-48a5-a2bc-91d25851124a 15 88432938 88432938 C T SNP IDH2 NM_002168.2 human genbank 54_36p -1 reviewed missense c.419 p.R140Q 1.000 HMMPfam_Iso_dh,superfamily_Isocitrate/Isopropylmalate dehydrogenase-like HMMPfam_Iso_dh,PatternScan_IDH_IMDH,superfamily_Isocitrate/Isopropylmalate dehydrogenase-like - no_errors 56 0 0.00 61 44 41.51 143 108 43.03 +N4BP1 0 genome.wustl.edu 37 16 48580097 48580097 + Missense_Mutation SNP G G A TCGA-AB-2877-03A-01W-0732-08 TCGA-AB-2877-11A-01W-0732-08 G G G A G G Verified Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq 1 dbGAP Illumina HiSeq 166d3943-4006-4434-9af3-4ba8e86b6ac6 a109df8d-1667-48a5-a2bc-91d25851124a 16 47137598 47137598 G A SNP N4BP1 NM_153029.3 human genbank 54_36p -1 validated missense c.2294 p.P765L 1.000 NULL NULL - no_errors 53 0 0.00 100 45 30.00 25 18 41.86 +UNC45B 0 genome.wustl.edu 37 17 33481714 33481714 + Missense_Mutation SNP C C T TCGA-AB-2877-03A-01W-0732-08 TCGA-AB-2877-11A-01W-0732-08 C C C T C C Verified Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq 1 dbGAP Illumina HiSeq 166d3943-4006-4434-9af3-4ba8e86b6ac6 a109df8d-1667-48a5-a2bc-91d25851124a 17 30505827 30505827 C T SNP UNC45B NM_173167.1 human genbank 54_36p +1 validated missense c.593 p.A198V 1.000 HMMSmart_SM00185,superfamily_ARM repeat HMMSmart_SM00185,HMMPfam_TPR_1,superfamily_ARM repeat,HMMSmart_SM00028,superfamily_TPR-like - no_errors 41 0 0.00 48 56 52.83 NA NA NA +PKNOX1 0 genome.wustl.edu 37 21 44448936 44448936 + Missense_Mutation SNP G G C TCGA-AB-2877-03A-01W-0732-08 TCGA-AB-2877-11A-01W-0732-08 G G G C G G Verified Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq 1 dbGAP Illumina HiSeq 166d3943-4006-4434-9af3-4ba8e86b6ac6 a109df8d-1667-48a5-a2bc-91d25851124a 21 43322005 43322005 G C SNP PKNOX1 NM_004571.3 human genbank 54_36p +1 validated missense c.1051 p.A351P 1.000 NULL HMMPfam_Homeobox,HMMSmart_SM00389,superfamily_Homeodomain-like - no_errors 26 0 0.00 36 39 52.00 36 20 35.71 +NPM1 0 genome.wustl.edu 37 5 170837543 170837544 + Frame_Shift_Ins INS - - TCTG TCGA-AB-2877-03A-01W-0732-08 TCGA-AB-2877-11A-01W-0732-08 - - - TCTG - - Verified Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq 1 dbGAP Illumina HiSeq 166d3943-4006-4434-9af3-4ba8e86b6ac6 a109df8d-1667-48a5-a2bc-91d25851124a 5 170770148 170770149 - TCTG INS NPM1 NM_002520.1 human genbank 54_36p +1 validated frame_shift_ins c.859_860 p.W288fs 1.000:1.000 NULL HMMPfam_Nucleoplasmin,superfamily_Nucleoplasmin-like core domain - no_errors NA NA NA NA NA NA NA NA NA +FLT3 0 genome.wustl.edu 37 13 28608244 28608245 + In_Frame_Ins INS - - TCCCATTTGAGATCATAT TCGA-AB-2877-03A-01W-0732-08 TCGA-AB-2877-11A-01W-0732-08 - - - TCCCATTTGAGATCATAT - - Verified Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq 1 dbGAP Illumina HiSeq 166d3943-4006-4434-9af3-4ba8e86b6ac6 a109df8d-1667-48a5-a2bc-91d25851124a 13 27506244 27506245 - TCCCATTTGAGATCATAT INS FLT3 NM_004119.2 human genbank 54_36p -1 reviewed in_frame_ins c.1812_1811 p.605in_frame_insYDLKWE 1.000:1.000 superfamily_Kinase_like HMMPfam_Pkinase_Tyr,HMMSmart_TyrKc,PatternScan_RECEPTOR_TYR_KIN_III,PatternScan_PROTEIN_KINASE_TYR,superfamily_Kinase_like,HMMPfam_ig,PatternScan_PROTEIN_KINASE_ATP,superfamily_SSF48726 - no_errors NA NA NA NA NA NA NA NA NA +CROCC 0 genome.wustl.edu 37 1 17275337 17275337 + Missense_Mutation SNP C C T TCGA-AB-2878-03A-01W-0732-08 TCGA-AB-2878-11A-01W-0732-08 C C C T C C Verified Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq 1 dbGAP Illumina HiSeq ee2992c1-67ba-4d9d-8305-1fc0e3b99abc d450eac4-a4b6-4d7f-8c98-d063c2a5f45c 1 17147924 17147924 C T SNP CROCC NM_014675.3 human genbank 54_36p +1 validated missense c.2752 p.R918W 1.000 NULL superfamily_Prefoldin - no_errors 30 1 3.23 83 24 22.43 10 3 23.08 +VPS72 0 genome.wustl.edu 37 1 151157997 151157997 + Missense_Mutation SNP C C G TCGA-AB-2878-03A-01W-0732-08 TCGA-AB-2878-11A-01W-0732-08 C C C G C C Verified Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq 1 dbGAP Illumina HiSeq ee2992c1-67ba-4d9d-8305-1fc0e3b99abc d450eac4-a4b6-4d7f-8c98-d063c2a5f45c 1 149424621 149424621 C G SNP VPS72 NM_005997.1 human genbank 54_36p -1 provisional missense c.370 p.D124H 1.000 HMMPfam_YL1 HMMPfam_YL1,HMMPfam_YL1_C - no_errors 130 0 0.00 82 80 48.78 41 34 45.33 +RIT1 0 genome.wustl.edu 37 1 155874261 155874261 + Missense_Mutation SNP C C T TCGA-AB-2878-03A-01W-0732-08 TCGA-AB-2878-11A-01W-0732-08 C C C T C C Verified Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq 1 dbGAP Illumina HiSeq ee2992c1-67ba-4d9d-8305-1fc0e3b99abc d450eac4-a4b6-4d7f-8c98-d063c2a5f45c 1 154140885 154140885 C T SNP RIT1 NM_006912.4 human genbank 54_36p -1 validated missense c.270 p.M90I 1.000 HMMSmart_SM00176,HMMSmart_SM00173,HMMSmart_SM00174,HMMSmart_SM00175,HMMPfam_Ras,superfamily_P-loop containing nucleoside triphosphate hydrolases HMMSmart_SM00176,HMMSmart_SM00173,HMMSmart_SM00174,HMMSmart_SM00175,HMMPfam_Ras,superfamily_P-loop containing nucleoside triphosphate hydrolases - no_errors 70 1 1.39 162 110 40.00 10 15 60.00 +CACNA1E 0 genome.wustl.edu 37 1 181727919 181727919 + Missense_Mutation SNP A A G TCGA-AB-2878-03A-01W-0732-08 TCGA-AB-2878-11A-01W-0732-08 A A A G A A Verified Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq 1 dbGAP Illumina HiSeq ee2992c1-67ba-4d9d-8305-1fc0e3b99abc d450eac4-a4b6-4d7f-8c98-d063c2a5f45c 1 179994542 179994542 A G SNP CACNA1E NM_000721.2 human genbank 54_36p +1 reviewed missense c.4520 p.E1507G 1.000 superfamily_Voltage-gated potassium channels HMMPfam_Ion_trans,HMMPfam_Ca_chan_IQ,superfamily_Voltage-gated potassium channels - no_errors 320 19 5.59 207 145 40.96 NA NA NA +PTPN14 0 genome.wustl.edu 37 1 214542946 214542946 + Missense_Mutation SNP G G A TCGA-AB-2878-03A-01W-0732-08 TCGA-AB-2878-11A-01W-0732-08 G G G A G G Verified Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq 1 dbGAP Illumina HiSeq ee2992c1-67ba-4d9d-8305-1fc0e3b99abc d450eac4-a4b6-4d7f-8c98-d063c2a5f45c 1 212609569 212609569 G A SNP PTPN14 NM_005401.3 human genbank 54_36p -1 reviewed missense c.3125 p.T1042M 1.000 HMMPfam_Y_phosphatase,HMMSmart_PTPc,superfamily_SSF52799 HMMPfam_Y_phosphatase,HMMSmart_PTPc,PatternScan_TYR_PHOSPHATASE_1,HMMPfam_FERM_N,PatternScan_FERM_1,PatternScan_FERM_2,HMMPfam_FERM_M,superfamily_FERM_3-hlx,HMMSmart_B41,superfamily_SSF50729,superfamily_SSF52799,superfamily_SSF54236 - no_errors 135 6 4.26 208 139 40.06 NA NA NA +SPDYA 0 genome.wustl.edu 37 2 29038896 29038896 + Missense_Mutation SNP A A C TCGA-AB-2878-03A-01W-0732-08 TCGA-AB-2878-11A-01W-0732-08 A A A C A A Verified Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq 1 dbGAP Illumina HiSeq ee2992c1-67ba-4d9d-8305-1fc0e3b99abc d450eac4-a4b6-4d7f-8c98-d063c2a5f45c 2 28892400 28892400 A C SNP SPDYA NM_182756.1 human genbank 54_36p +1 validated missense c.16 p.M6L 1.000 NULL NULL - no_errors 72 0 0.00 58 54 48.21 8 8 50.00 +STT3B 0 genome.wustl.edu 37 3 31617953 31617953 + Missense_Mutation SNP A A G TCGA-AB-2878-03A-01W-0732-08 TCGA-AB-2878-11A-01W-0732-08 A A A G A A Verified Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq 1 dbGAP Illumina HiSeq ee2992c1-67ba-4d9d-8305-1fc0e3b99abc d450eac4-a4b6-4d7f-8c98-d063c2a5f45c 3 31592957 31592957 A G SNP STT3B NM_178862.1 human genbank 54_36p +1 provisional missense c.380 p.D127G 1.000 HMMPfam_STT3 HMMPfam_STT3 - no_errors 110 5 4.35 254 151 37.28 101 78 43.58 +NR2E1 0 genome.wustl.edu 37 6 108499328 108499328 + Missense_Mutation SNP G G A TCGA-AB-2878-03A-01W-0732-08 TCGA-AB-2878-11A-01W-0732-08 G G G A G G Verified Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq 1 dbGAP Illumina HiSeq ee2992c1-67ba-4d9d-8305-1fc0e3b99abc d450eac4-a4b6-4d7f-8c98-d063c2a5f45c 6 108606021 108606021 G A SNP NR2E1 NM_003269.3 human genbank 54_36p +1 validated missense c.525 p.M175I 1.000 superfamily_Nuclear receptor ligand-binding domain HMMPfam_Hormone_recep,HMMSmart_SM00430,HMMPfam_zf-C4,HMMSmart_SM00399,PatternScan_NUCLEAR_REC_DBD_1,superfamily_Nuclear receptor ligand-binding domain,superfamily_Glucocorticoid receptor-like (DNA-binding domain) - no_errors 121 0 0.00 56 31 35.23 NA NA NA +EGFR 0 genome.wustl.edu 37 7 55238900 55238900 + Missense_Mutation SNP C C T TCGA-AB-2878-03A-01W-0732-08 TCGA-AB-2878-11A-01W-0732-08 C C C T C C Verified Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq 1 dbGAP Illumina HiSeq ee2992c1-67ba-4d9d-8305-1fc0e3b99abc d450eac4-a4b6-4d7f-8c98-d063c2a5f45c 7 55206394 55206394 C T SNP EGFR NM_005228.3 human genbank 54_36p +1 reviewed missense c.1913 p.T638M 0.000 NULL HMMPfam_Recep_L_domain,HMMPfam_Pkinase_Tyr,HMMSmart_SM00219,HMMSmart_SM00220,HMMPfam_Furin-like,HMMSmart_SM00261,PatternScan_PROTEIN_KINASE_TYR,superfamily_Growth factor receptor domain,superfamily_Protein kinase-like (PK-like),PatternScan_PROTEIN_KINASE_ATP,superfamily_L domain-like - no_errors 172 3 1.71 145 108 42.69 NA NA NA +CHD4 0 genome.wustl.edu 37 12 6697064 6697064 + Missense_Mutation SNP G G A TCGA-AB-2878-03A-01W-0732-08 TCGA-AB-2878-11A-01W-0732-08 G G G A G G Verified Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq 1 dbGAP Illumina HiSeq ee2992c1-67ba-4d9d-8305-1fc0e3b99abc d450eac4-a4b6-4d7f-8c98-d063c2a5f45c 12 6567325 6567325 G A SNP CHD4 NM_001273.2 human genbank 54_36p -1 reviewed missense c.3517 p.R1173W 1.000 superfamily_P-loop containing nucleoside triphosphate hydrolases HMMPfam_SNF2_N,HMMPfam_Chromo,HMMSmart_SM00298,PatternScan_CHROMO_1,HMMPfam_Helicase_C,HMMSmart_SM00490,HMMSmart_SM00249,PatternScan_DEAH_ATP_HELICASE,HMMPfam_DUF1086,HMMPfam_DUF1087,superfamily_FYVE/PHD zinc finger,HMMPfam_CHDCT2,HMMPfam_CHDNT,HMMSmart_SM00487,superfamily_Chromo domain-like,PatternScan_ZF_PHD_1,HMMPfam_PHD,superfamily_P-loop containing nucleoside triphosphate hydrolases - no_errors 91 0 0.00 186 90 32.26 77 73 48.67 +SERPINA9 0 genome.wustl.edu 37 14 94933658 94933658 + Silent SNP G G A TCGA-AB-2878-03A-01W-0732-08 TCGA-AB-2878-11A-01W-0732-08 G G G A G G Verified Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq 1 dbGAP Illumina HiSeq ee2992c1-67ba-4d9d-8305-1fc0e3b99abc d450eac4-a4b6-4d7f-8c98-d063c2a5f45c 14 94003411 94003411 G A SNP SERPINA9 NM_175739.1 human genbank 54_36p -1 validated silent c.744 p.G248 0.333 HMMPfam_Serpin,HMMSmart_SM00093,superfamily_Serpins HMMPfam_Serpin,HMMSmart_SM00093,PatternScan_SERPIN,superfamily_Serpins - no_errors 342 2 0.58 192 141 41.84 NA NA NA +HERC2P2 0 genome.wustl.edu 37 15 20642621 20642621 + Missense_Mutation SNP G G C TCGA-AB-2878-03A-01W-0732-08 TCGA-AB-2878-11A-01W-0732-08 G G G C G G Verified Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq 1 dbGAP Illumina HiSeq ee2992c1-67ba-4d9d-8305-1fc0e3b99abc d450eac4-a4b6-4d7f-8c98-d063c2a5f45c 15 18902635 18902635 G C SNP HERC2P2 ENST00000324413 human ensembl 54_36p -1 known missense c.2990 p.A997G 1.000 NULL HMMPfam_MIB_HERC2 - no_errors 7 1 12.50 53 11 17.19 47 17 26.56 +FBN1 0 genome.wustl.edu 37 15 48789466 48789466 + Missense_Mutation SNP C C T TCGA-AB-2878-03A-01W-0732-08 TCGA-AB-2878-11A-01W-0732-08 C C C T C C Verified Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq 1 dbGAP Illumina HiSeq ee2992c1-67ba-4d9d-8305-1fc0e3b99abc d450eac4-a4b6-4d7f-8c98-d063c2a5f45c 15 46576758 46576758 C T SNP FBN1 NM_000138.3 human genbank 54_36p -1 reviewed missense c.2290 p.V764I 0.998 HMMSmart_SM00179,HMMSmart_SM00181,superfamily_Concanavalin A-like lectins/glucanases,superfamily_EGF/Laminin PatternScan_ASX_HYDROXYL,HMMSmart_SM00179,HMMPfam_TB,superfamily_TB module/8-cys domain,HMMPfam_EGF,HMMSmart_SM00181,PatternScan_ZINC_FINGER_C2H2_1,superfamily_Concanavalin A-like lectins/glucanases,superfamily_Growth factor receptor domain,PatternScan_EGF_1,PatternScan_EGF_2,HMMPfam_EGF_CA,HMMPfam_EGF_2,PatternScan_EGF_CA,superfamily_EGF/Laminin - no_errors 79 4 4.82 126 68 34.69 7 4 36.36 +TP53 0 genome.wustl.edu 37 17 7578206 7578206 + Missense_Mutation SNP T T C TCGA-AB-2878-03A-01W-0732-08 TCGA-AB-2878-11A-01W-0732-08 T T T C T T Verified Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq 1 dbGAP Illumina HiSeq ee2992c1-67ba-4d9d-8305-1fc0e3b99abc d450eac4-a4b6-4d7f-8c98-d063c2a5f45c 17 7518931 7518931 T C SNP TP53 NM_000546.4 human genbank 54_36p -1 reviewed missense c.643 p.S215G 1.000 superfamily_p53-like transcription factors,HMMPfam_P53 PatternScan_P53,superfamily_p53-like transcription factors,HMMPfam_P53_tetramer,superfamily_p53 tetramerization domain,HMMPfam_P53,HMMPfam_P53_TAD - no_errors 220 20 8.33 216 170 43.81 10 56 84.85 +LOC649299 0 genome.wustl.edu 37 19 21416317 21416317 + Nonsense_Mutation SNP A A T TCGA-AB-2878-03A-01W-0732-08 TCGA-AB-2878-11A-01W-0732-08 A A A T A A Verified Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq 1 dbGAP Illumina HiSeq ee2992c1-67ba-4d9d-8305-1fc0e3b99abc d450eac4-a4b6-4d7f-8c98-d063c2a5f45c 19 21208157 21208157 A T SNP LOC649299 XM_001719759.1 human genbank 54_36p +1 model nonsense c.181 p.K61* 1.000 HMMPfam_Ribosomal_L44,superfamily_Zn-binding ribosomal proteins HMMPfam_Ribosomal_L44,superfamily_Zn-binding ribosomal proteins - pseudogene 36 3 7.69 44 45 50.56 0 0 0.00 +TP53 0 genome.wustl.edu 37 17 7578414 7578414 + Frame_Shift_Del DEL A A - TCGA-AB-2878-03A-01W-0732-08 TCGA-AB-2878-11A-01W-0732-08 A A A - A A Verified Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq 1 dbGAP Illumina HiSeq ee2992c1-67ba-4d9d-8305-1fc0e3b99abc d450eac4-a4b6-4d7f-8c98-d063c2a5f45c 17 7519139 7519139 A - DEL TP53 NM_000546.4 human genbank 54_36p -1 reviewed frame_shift_del c.516 p.V173fs 0.952 superfamily_p53-like transcription factors,HMMPfam_P53 PatternScan_P53,superfamily_p53-like transcription factors,HMMPfam_P53_tetramer,superfamily_p53 tetramerization domain,HMMPfam_P53,HMMPfam_P53_TAD - no_errors 188 3 1.57 136 96 40.51 15 0 0.00 +TET2 0 genome.wustl.edu 37 4 106164778 106164778 + Nonsense_Mutation SNP C C T TCGA-AB-2879-03A-01W-0732-08 TCGA-AB-2879-11A-01W-0732-08 C C C T C C Verified Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq 1 dbGAP Illumina HiSeq f8e05d5a-f2b4-4023-b0d5-548df03a1921 d48634c4-b8d4-4fe7-b5a1-428c3682337f 4 106384227 106384227 C T SNP TET2 ENST00000265149 human ensembl 54_36p +1 known nonsense c.52 p.R18* 1.000 NULL NULL - no_start_codon 130 19 12.58 96 86 46.74 24 24 50.00 +TRPM3 0 genome.wustl.edu 37 9 73218311 73218311 + Missense_Mutation SNP C C T TCGA-AB-2879-03A-01W-0732-08 TCGA-AB-2879-11A-01W-0732-08 C C C T C C Verified Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq 1 dbGAP Illumina HiSeq f8e05d5a-f2b4-4023-b0d5-548df03a1921 d48634c4-b8d4-4fe7-b5a1-428c3682337f 9 72408131 72408131 C T SNP TRPM3 NM_001007471.1 human genbank 54_36p -1 reviewed missense c.2707 p.E903K 1.000 NULL HMMPfam_Ion_trans - no_errors 228 23 9.09 219 162 41.86 NA NA NA +TET2 0 genome.wustl.edu 37 4 106155921 106155921 + Frame_Shift_Del DEL C C - TCGA-AB-2879-03A-01W-0732-08 TCGA-AB-2879-11A-01W-0732-08 C C C - C C Verified Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq 1 dbGAP Illumina HiSeq f8e05d5a-f2b4-4023-b0d5-548df03a1921 d48634c4-b8d4-4fe7-b5a1-428c3682337f 4 106375370 106375370 C - DEL TET2 NM_017628.1 human genbank 54_36p +1 validated frame_shift_del c.822 p.N275fs 0.379 NULL NULL - no_errors 217 40 15.09 167 113 38.05 27 30 49.18 +NPM1 0 genome.wustl.edu 37 5 170837547 170837548 + Frame_Shift_Ins INS - - TCTG TCGA-AB-2879-03A-01W-0732-08 TCGA-AB-2879-11A-01W-0732-08 - - - TCTG - - Verified Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq 1 dbGAP Illumina HiSeq f8e05d5a-f2b4-4023-b0d5-548df03a1921 d48634c4-b8d4-4fe7-b5a1-428c3682337f 5 170770152 170770153 - TCTG INS NPM1 NM_002520.1 human genbank 54_36p +1 validated frame_shift_ins c.863_864 p.W288fs 1.000:1.000 NULL HMMPfam_Nucleoplasmin,superfamily_Nucleoplasmin-like core domain - no_errors NA NA NA NA NA NA NA NA NA +FLT3 0 genome.wustl.edu 37 13 28608250 28608251 + In_Frame_Ins INS - - TTGAGATCATATTCATATTCTCTGAAATCAACG TCGA-AB-2879-03A-01W-0732-08 TCGA-AB-2879-11A-01W-0732-08 - - - TTGAGATCATATTCATATTCTCTGAAATCAACG - - Verified Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq 1 dbGAP Illumina HiSeq f8e05d5a-f2b4-4023-b0d5-548df03a1921 d48634c4-b8d4-4fe7-b5a1-428c3682337f 13 27506250 27506251 - TTGAGATCATATTCATATTCTCTGAAATCAACG INS FLT3 NM_004119.2 human genbank 54_36p -1 reviewed in_frame_ins c.1806_1805 p.602in_frame_insNVDFREYEYDL 0.998:1.000 superfamily_Kinase_like HMMPfam_Pkinase_Tyr,HMMSmart_TyrKc,PatternScan_RECEPTOR_TYR_KIN_III,PatternScan_PROTEIN_KINASE_TYR,superfamily_Kinase_like,HMMPfam_ig,PatternScan_PROTEIN_KINASE_ATP,superfamily_SSF48726 - no_errors NA NA NA NA NA NA NA NA NA +RHBDF2 0 genome.wustl.edu 37 17 74467769 74467769 + Silent SNP G G A TCGA-AB-2880-03A-01W-0732-08 TCGA-AB-2880-11A-01W-0732-08 G G G A G G Verified Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq 1 dbGAP Illumina HiSeq 884d69a4-39c7-4b83-86a0-f55e3086562a 3e194bbc-26f5-4da9-a975-88ed4ed036d8 17 71979364 71979364 G A SNP RHBDF2 NM_024599.2 human genbank 54_36p -1 validated silent c.2517 p.F839 1.000 NULL HMMPfam_Rhomboid - no_errors 47 3 6.00 40 9 18.37 46 8 14.81 +FLT3 0 genome.wustl.edu 37 13 28608251 28608252 + In_Frame_Ins INS - - TGAGATCATATTCATATTCTC TCGA-AB-2880-03A-01W-0732-08 TCGA-AB-2880-11A-01W-0732-08 - - - TGAGATCATATTCATATTCTC - - Verified Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq 1 dbGAP Illumina HiSeq 884d69a4-39c7-4b83-86a0-f55e3086562a 3e194bbc-26f5-4da9-a975-88ed4ed036d8 13 27506251 27506252 - TGAGATCATATTCATATTCTC INS FLT3 NM_004119.2 human genbank 54_36p -1 reviewed in_frame_ins c.1805_1804 p.602in_frame_insREYEYDL 1.000:1.000 superfamily_Kinase_like HMMPfam_Pkinase_Tyr,HMMSmart_TyrKc,PatternScan_RECEPTOR_TYR_KIN_III,PatternScan_PROTEIN_KINASE_TYR,superfamily_Kinase_like,HMMPfam_ig,PatternScan_PROTEIN_KINASE_ATP,superfamily_SSF48726 - no_errors NA NA NA NA NA NA NA NA NA +CEBPA 0 genome.wustl.edu 37 19 33792991 33792992 + Frame_Shift_Ins INS - - C TCGA-AB-2880-03A-01W-0732-08 TCGA-AB-2880-11A-01W-0732-08 - - - C - - Verified Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq 1 dbGAP Illumina HiSeq 884d69a4-39c7-4b83-86a0-f55e3086562a 3e194bbc-26f5-4da9-a975-88ed4ed036d8 19 38484831 38484832 - C INS CEBPA NM_004364.3 human genbank 54_36p -1 reviewed frame_shift_ins c.330_329 p.A111fs 0.915:0.950 NULL HMMSmart_BRLZ,PatternScan_BZIP_BASIC,HMMPfam_bZIP_2 - no_errors 0 0 0.00 0 0 0.00 32 26 44.83 +ITGB5 0 genome.wustl.edu 37 3 124527914 124527914 + Silent SNP G G A TCGA-AB-2881-03A-01W-0732-08 TCGA-AB-2881-11A-01W-0732-08 G G G A G G Verified Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq 1 dbGAP Illumina HiSeq 82b9b9ce-b995-45f0-bf39-53cb56684024 510d78d5-f5a3-4be9-bb94-19f320ca3252 3 126010604 126010604 G A SNP ITGB5 NM_002213.3 human genbank 54_36p -1 provisional silent c.1218 p.S406 1.000 HMMPfam_Integrin_beta,HMMSmart_INB,superfamily_SSF69179 HMMSmart_VWA,HMMPfam_Integrin_beta,HMMSmart_INB,HMMSmart_PSI,HMMSmart_EGF,HMMPfam_Integrin_B_tail,superfamily_Integrin_bsu_tail,PatternScan_EGF_1,PatternScan_EGF_2,HMMPfam_EGF_2,HMMPfam_Integrin_b_cyt,PatternScan_INTEGRIN_BETA,superfamily_SSF53300,superfamily_SSF57196,superfamily_SSF69179 - no_errors 131 8 5.63 125 82 39.61 6 6 50.00 +LRRC15 0 genome.wustl.edu 37 3 194080335 194080335 + Missense_Mutation SNP C C T TCGA-AB-2881-03A-01W-0732-08 TCGA-AB-2881-11A-01W-0732-08 C C C T C C Verified Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq 1 dbGAP Illumina HiSeq 82b9b9ce-b995-45f0-bf39-53cb56684024 510d78d5-f5a3-4be9-bb94-19f320ca3252 3 195561630 195561630 C T SNP LRRC15 NM_130830.1 human genbank 54_36p -1 validated missense c.1438 p.E480K 0.003 NULL HMMSmart_LRRNT,HMMSmart_LRRCT,HMMPfam_LRR_1,HMMSmart_LRR_TYP,superfamily_SSF52058 - no_errors 156 4 2.48 170 48 21.92 NA NA NA +KIT 0 genome.wustl.edu 37 4 55599320 55599320 + Missense_Mutation SNP G G T rs121913506 TCGA-AB-2881-03A-01W-0732-08 TCGA-AB-2881-11A-01W-0732-08 G G G T G G Verified Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq 1 dbGAP Illumina HiSeq 82b9b9ce-b995-45f0-bf39-53cb56684024 510d78d5-f5a3-4be9-bb94-19f320ca3252 4 55294077 55294077 G T SNP KIT NM_000222.2 human genbank 54_36p +1 reviewed missense c.2446 p.D816Y 1.000 HMMPfam_Pkinase_Tyr,HMMSmart_TyrKc,superfamily_Kinase_like HMMPfam_Pkinase_Tyr,HMMSmart_TyrKc,PatternScan_RECEPTOR_TYR_KIN_III,HMMSmart_IGc2,HMMSmart_IG,PatternScan_PROTEIN_KINASE_TYR,superfamily_Kinase_like,HMMPfam_ig,PatternScan_PROTEIN_KINASE_ATP,superfamily_SSF48726 - no_errors 53 2 3.64 111 40 26.32 172 71 29.22 +KLHL2 0 genome.wustl.edu 37 4 166235192 166235192 + Missense_Mutation SNP A A T TCGA-AB-2881-03A-01W-0732-08 TCGA-AB-2881-11A-01W-0732-08 A A A T A A Verified Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq 1 dbGAP Illumina HiSeq 82b9b9ce-b995-45f0-bf39-53cb56684024 510d78d5-f5a3-4be9-bb94-19f320ca3252 4 166454642 166454642 A T SNP KLHL2 NM_007246.2 human genbank 54_36p +1 provisional missense c.1483 p.N495Y 1.000 HMMPfam_Kelch_1,HMMSmart_Kelch,superfamily_Gal_oxid_central HMMSmart_BTB,HMMPfam_Kelch_1,HMMSmart_Kelch,superfamily_Gal_oxid_central,superfamily_BTB/POZ_fold,HMMPfam_BACK,HMMPfam_BTB - no_errors 250 9 3.45 169 116 40.00 21 11 34.38 +ESM1 0 genome.wustl.edu 37 5 54281094 54281094 + Silent SNP C C T TCGA-AB-2881-03A-01W-0732-08 TCGA-AB-2881-11A-01W-0732-08 C C C T C C Verified Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq 1 dbGAP Illumina HiSeq 82b9b9ce-b995-45f0-bf39-53cb56684024 510d78d5-f5a3-4be9-bb94-19f320ca3252 5 54316851 54316851 C T SNP ESM1 NM_007036.1 human genbank 54_36p -1 reviewed silent c.252 p.Q84 0.995 HMMSmart_IB HMMSmart_IB - no_errors 48 5 9.43 62 51 44.35 NA NA NA +C6orf170 0 genome.wustl.edu 37 6 121434261 121434261 + Missense_Mutation SNP T T C TCGA-AB-2881-03A-01W-0732-08 TCGA-AB-2881-11A-01W-0732-08 T T T C T T Verified Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq 1 dbGAP Illumina HiSeq 82b9b9ce-b995-45f0-bf39-53cb56684024 510d78d5-f5a3-4be9-bb94-19f320ca3252 6 121475960 121475960 T C SNP C6orf170 NM_152730.4 human genbank 54_36p -1 validated missense c.3116 p.K1039R 1.000 NULL superfamily_Ypt/Rab-GAP domain of gyp1p - no_errors 89 3 3.26 139 97 40.76 3 1 25.00 +RUNX1T1 0 genome.wustl.edu 37 8 93004054 93004054 + Nonsense_Mutation SNP G G T TCGA-AB-2881-03A-01W-0732-08 TCGA-AB-2881-11A-01W-0732-08 G G G T G G Verified Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq 1 dbGAP Illumina HiSeq 82b9b9ce-b995-45f0-bf39-53cb56684024 510d78d5-f5a3-4be9-bb94-19f320ca3252 8 93073230 93073230 G T SNP RUNX1T1 NM_175634.2 human genbank 54_36p -1 reviewed nonsense c.804 p.C268* 1.000 NULL HMMPfam_zf-MYND,PatternScan_ZF_MYND_1,HMMPfam_TAFH,HMMSmart_SM00549,HMMPfam_NHR2 - no_errors 161 10 5.78 154 102 39.38 NA NA NA +SOGA2 0 genome.wustl.edu 37 18 8806946 8806946 + Missense_Mutation SNP G G A TCGA-AB-2881-03A-01W-0732-08 TCGA-AB-2881-11A-01W-0732-08 G G G A G G Verified Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq 1 dbGAP Illumina HiSeq 82b9b9ce-b995-45f0-bf39-53cb56684024 510d78d5-f5a3-4be9-bb94-19f320ca3252 18 8796946 8796946 G A SNP KIAA0802 NM_015210.3 human genbank 54_36p +1 predicted missense c.2492 p.R831H 0.050 NULL NULL - no_errors 54 0 0.00 73 20 21.28 NA NA NA +GNA15 0 genome.wustl.edu 37 19 3150277 3150277 + Missense_Mutation SNP C C T TCGA-AB-2881-03A-01W-0732-08 TCGA-AB-2881-11A-01W-0732-08 C C C T C C Verified Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq 1 dbGAP Illumina HiSeq 82b9b9ce-b995-45f0-bf39-53cb56684024 510d78d5-f5a3-4be9-bb94-19f320ca3252 19 3101277 3101277 C T SNP GNA15 NM_002068.2 human genbank 54_36p +1 validated missense c.479 p.A160V 0.608 HMMPfam_G-alpha,superfamily_Transducin (alpha subunit) insertion domain,HMMSmart_SM00275,superfamily_P-loop containing nucleoside triphosphate hydrolases HMMPfam_G-alpha,superfamily_Transducin (alpha subunit) insertion domain,HMMSmart_SM00275,superfamily_P-loop containing nucleoside triphosphate hydrolases - no_errors 30 0 0.00 22 13 36.11 109 143 56.08 +RCC2 0 genome.wustl.edu 37 1 17740033 17740033 + Missense_Mutation SNP C C T TCGA-AB-2882-03A-01W-0761-09 TCGA-AB-2882-11A-01W-0732-08 C C C T C C Verified Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq 1 dbGAP Illumina HiSeq b94e2b78-8092-49af-9c9e-7fd612b89793 22830365-9194-4c33-98d3-294740f281eb 1 17612620 17612620 C T SNP RCC2 NM_018715.1 human genbank 54_36p -1 validated missense c.1207 p.G403S 1.000 superfamily_RCC1/BLIP-II HMMPfam_RCC1,PatternScan_RCC1_1,PatternScan_RCC1_2,superfamily_RCC1/BLIP-II - no_errors 255 7 2.65 62 42 40.38 36 22 37.93 +ALG6 0 genome.wustl.edu 37 1 63876887 63876887 + Missense_Mutation SNP G G A TCGA-AB-2882-03A-01W-0761-09 TCGA-AB-2882-11A-01W-0732-08 G G G A G G Verified Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq 1 dbGAP Illumina HiSeq b94e2b78-8092-49af-9c9e-7fd612b89793 22830365-9194-4c33-98d3-294740f281eb 1 63649475 63649475 G A SNP ALG6 NM_013339.3 human genbank 54_36p +1 reviewed missense c.565 p.G189R 1.000 HMMPfam_Alg6_Alg8 HMMPfam_Alg6_Alg8 - no_errors 169 1 0.59 74 44 37.29 18 9 32.14 +DYSF 0 genome.wustl.edu 37 2 71909662 71909662 + Missense_Mutation SNP G G A TCGA-AB-2882-03A-01W-0761-09 TCGA-AB-2882-11A-01W-0732-08 G G G A G G Verified Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq 1 dbGAP Illumina HiSeq b94e2b78-8092-49af-9c9e-7fd612b89793 22830365-9194-4c33-98d3-294740f281eb 2 71763170 71763170 G A SNP DYSF NM_003494.1 human genbank 54_36p +1 reviewed missense c.6059 p.R2020H 1.000 NULL HMMPfam_C2,HMMSmart_SM00239,HMMSmart_SM00693,HMMSmart_SM00694,superfamily_C2 domain (Calcium/lipid-binding domain CaLB),HMMPfam_FerA,HMMPfam_FerB,HMMPfam_FerI - no_errors 427 17 3.80 135 85 38.46 22 21 48.84 +CADPS 0 genome.wustl.edu 37 3 62484930 62484930 + Silent SNP C C G TCGA-AB-2882-03A-01W-0761-09 TCGA-AB-2882-11A-01W-0732-08 C C C G C C Verified Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq 1 dbGAP Illumina HiSeq b94e2b78-8092-49af-9c9e-7fd612b89793 22830365-9194-4c33-98d3-294740f281eb 3 62459970 62459970 C G SNP CADPS NM_003716.3 human genbank 54_36p -1 reviewed silent c.2613 p.R871 0.921 HMMPfam_DUF1041 HMMPfam_C2,HMMPfam_PH,HMMSmart_SM00233,HMMPfam_DUF1041,superfamily_PH domain-like - no_errors 248 4 1.57 115 64 35.75 NA NA NA +KLHDC3 0 genome.wustl.edu 37 6 42984974 42984974 + Missense_Mutation SNP T T C TCGA-AB-2882-03A-01W-0761-09 TCGA-AB-2882-11A-01W-0732-08 T T T C T T Verified Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq 1 dbGAP Illumina HiSeq b94e2b78-8092-49af-9c9e-7fd612b89793 22830365-9194-4c33-98d3-294740f281eb 6 43092952 43092952 T C SNP KLHDC3 NM_057161.2 human genbank 54_36p +1 reviewed missense c.44 p.V15A 1.000 superfamily_Galactose oxidase central domain,HMMPfam_Kelch_2 HMMPfam_Kelch_1,superfamily_Galactose oxidase central domain,HMMPfam_Kelch_2 - no_errors 383 23 5.39 40 24 36.92 56 40 41.67 +PKHD1 0 genome.wustl.edu 37 6 51619690 51619690 + Missense_Mutation SNP C C T TCGA-AB-2882-03A-01W-0761-09 TCGA-AB-2882-11A-01W-0732-08 C C C T C C Verified Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq 1 dbGAP Illumina HiSeq b94e2b78-8092-49af-9c9e-7fd612b89793 22830365-9194-4c33-98d3-294740f281eb 6 51727649 51727649 C T SNP PKHD1 NM_138694.3 human genbank 54_36p -1 reviewed missense c.8689 p.V2897I 0.252 NULL HMMPfam_TIG,HMMSmart_SM00429,HMMSmart_SM00710,superfamily_Pectin lyase-like,superfamily_E set domains,HMMPfam_G8 - no_errors 314 9 2.79 126 70 35.71 NA NA NA +SCAF8 0 genome.wustl.edu 37 6 155154044 155154044 + Missense_Mutation SNP G G T TCGA-AB-2882-03A-01W-0761-09 TCGA-AB-2882-11A-01W-0732-08 G G G T G G Verified Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq 1 dbGAP Illumina HiSeq b94e2b78-8092-49af-9c9e-7fd612b89793 22830365-9194-4c33-98d3-294740f281eb 6 155195736 155195736 G T SNP RBM16 NM_014892.3 human genbank 54_36p +1 validated missense c.3331 p.G1111C 0.996 NULL HMMPfam_RRM_1,HMMSmart_RRM,HMMSmart_RPR,HMMPfam_DUF618,superfamily_ENTH_VHS,superfamily_SSF54928 - no_errors 163 3 1.81 115 24 17.27 53 20 27.03 +SDK1 0 genome.wustl.edu 37 7 4014056 4014056 + Missense_Mutation SNP G G A TCGA-AB-2882-03A-01W-0761-09 TCGA-AB-2882-11A-01W-0732-08 G G G A G G Verified Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq 1 dbGAP Illumina HiSeq b94e2b78-8092-49af-9c9e-7fd612b89793 22830365-9194-4c33-98d3-294740f281eb 7 3980582 3980582 G A SNP SDK1 NM_152744.1 human genbank 54_36p +1 validated missense c.1873 p.V625M 0.004 HMMSmart_SM00408,HMMSmart_SM00409,HMMPfam_ig,superfamily_Immunoglobulin HMMSmart_SM00408,HMMSmart_SM00409,HMMPfam_fn3,HMMSmart_SM00060,superfamily_Fibronectin type III,HMMPfam_I-set,HMMPfam_ig,superfamily_Immunoglobulin - no_errors 169 15 8.15 27 19 41.30 NA NA NA +TRPM3 0 genome.wustl.edu 37 9 73218347 73218347 + Missense_Mutation SNP C C T TCGA-AB-2882-03A-01W-0761-09 TCGA-AB-2882-11A-01W-0732-08 C C C T C C Verified Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq 1 dbGAP Illumina HiSeq b94e2b78-8092-49af-9c9e-7fd612b89793 22830365-9194-4c33-98d3-294740f281eb 9 72408167 72408167 C T SNP TRPM3 NM_001007471.1 human genbank 54_36p -1 reviewed missense c.2671 p.V891M 1.000 NULL HMMPfam_Ion_trans - no_errors 506 9 1.75 115 71 38.17 NA NA NA +DYNC2H1 0 genome.wustl.edu 37 11 102980403 102980403 + Missense_Mutation SNP T T G TCGA-AB-2882-03A-01W-0761-09 TCGA-AB-2882-11A-01W-0732-08 T T T G T T Verified Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq 1 dbGAP Illumina HiSeq b94e2b78-8092-49af-9c9e-7fd612b89793 22830365-9194-4c33-98d3-294740f281eb 11 102485613 102485613 T G SNP DYNC2H1 NM_001080463.1 human genbank 54_36p +1 provisional missense c.100 p.C34G 0.000 NULL HMMSmart_SM00382,HMMPfam_Dynein_heavy,HMMPfam_AAA_5,HMMPfam_DHC_N1,HMMPfam_DHC_N2,superfamily_P-loop containing nucleoside triphosphate hydrolases - no_errors 231 11 4.55 71 30 29.70 NA NA NA +TMCO5A 0 genome.wustl.edu 37 15 38243365 38243365 + Missense_Mutation SNP C C T TCGA-AB-2882-03A-01W-0761-09 TCGA-AB-2882-11A-01W-0732-08 C C C T C C Verified Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq 1 dbGAP Illumina HiSeq b94e2b78-8092-49af-9c9e-7fd612b89793 22830365-9194-4c33-98d3-294740f281eb 15 36030657 36030657 C T SNP TMCO5A NM_152453.2 human genbank 54_36p +1 provisional missense c.797 p.T266I 0.332 NULL NULL - no_errors 214 8 3.59 77 61 44.20 NA NA NA +SMG1 0 genome.wustl.edu 37 16 18849950 18849950 + Missense_Mutation SNP C C T TCGA-AB-2882-03A-01W-0761-09 TCGA-AB-2882-11A-01W-0732-08 C C C T C C Verified Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq 1 dbGAP Illumina HiSeq b94e2b78-8092-49af-9c9e-7fd612b89793 22830365-9194-4c33-98d3-294740f281eb 16 18757451 18757451 C T SNP SMG1 NM_015092.4 human genbank 54_36p -1 reviewed missense c.7007 p.R2336K 1.000 HMMPfam_PI3_PI4_kinase,HMMSmart_SM00146,superfamily_Protein kinase-like (PK-like),PatternScan_PI3_4_KINASE_2 HMMPfam_HEAT,HMMPfam_PI3_PI4_kinase,HMMSmart_SM00146,HMMPfam_FATC,superfamily_Protein kinase-like (PK-like),superfamily_ARM repeat,PatternScan_PI3_4_KINASE_2 - no_errors 229 10 4.18 93 47 33.57 56 43 43.43 +SNORD37 0 genome.wustl.edu 37 19 3982568 3982568 + RNA SNP A A T TCGA-AB-2882-03A-01W-0761-09 TCGA-AB-2882-11A-01W-0732-08 A A A T A A Verified Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq 1 dbGAP Illumina HiSeq b94e2b78-8092-49af-9c9e-7fd612b89793 22830365-9194-4c33-98d3-294740f281eb 19 3933568 3933568 A T SNP SNORD37 NR_002602.1 human genbank 54_36p -1 provisional rna NULL NULL 0.000 - - - no_errors 106 8 7.02 12 9 42.86 4 3 42.86 +HAO1 0 genome.wustl.edu 37 20 7866398 7866398 + Silent SNP C C T TCGA-AB-2882-03A-01W-0761-09 TCGA-AB-2882-11A-01W-0732-08 C C C T C C Verified Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq 1 dbGAP Illumina HiSeq b94e2b78-8092-49af-9c9e-7fd612b89793 22830365-9194-4c33-98d3-294740f281eb 20 7814398 7814398 C T SNP HAO1 NM_017545.2 human genbank 54_36p -1 reviewed silent c.927 p.K309 0.990 HMMPfam_FMN_dh,superfamily_FMN-linked oxidoreductases HMMPfam_FMN_dh,PatternScan_FMN_HYDROXY_ACID_DH_1,superfamily_FMN-linked oxidoreductases - no_errors 379 20 5.01 142 78 35.45 NA NA NA +DNMT3B 0 genome.wustl.edu 37 20 31386387 31386387 + Missense_Mutation SNP C C T TCGA-AB-2882-03A-01W-0761-09 TCGA-AB-2882-11A-01W-0732-08 C C C T C C Verified Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq 1 dbGAP Illumina HiSeq b94e2b78-8092-49af-9c9e-7fd612b89793 22830365-9194-4c33-98d3-294740f281eb 20 30850048 30850048 C T SNP DNMT3B NM_006892.3 human genbank 54_36p +1 reviewed missense c.1612 p.R538C 1.000 superfamily_FYVE/PHD zinc finger HMMPfam_PWWP,HMMSmart_SM00293,HMMPfam_DNA_methylase,superfamily_FYVE/PHD zinc finger,PatternScan_C5_MTASE_1,superfamily_S-adenosyl-L-methionine-dependent methyltransferases,superfamily_Tudor/PWWP/MBT - no_errors 126 7 5.26 44 26 37.14 18 29 61.70 +U2AF1 0 genome.wustl.edu 37 21 44524456 44524456 + Missense_Mutation SNP G G T TCGA-AB-2882-03A-01W-0761-09 TCGA-AB-2882-11A-01W-0732-08 G G G T G G Verified Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq 1 dbGAP Illumina HiSeq b94e2b78-8092-49af-9c9e-7fd612b89793 22830365-9194-4c33-98d3-294740f281eb 21 43397525 43397525 G T SNP U2AF1 NM_001025203.1 human genbank 54_36p -1 reviewed missense c.101 p.S34Y 1.000 HMMPfam_zf-CCCH,HMMSmart_ZnF_C3H1 HMMPfam_RRM_1,HMMSmart_RRM,HMMPfam_zf-CCCH,HMMSmart_ZnF_C3H1,superfamily_SSF54928 - no_errors 142 1 0.70 19 16 45.71 67 66 49.62 +NIPSNAP1 0 genome.wustl.edu 37 22 29966426 29966426 + Missense_Mutation SNP T T C TCGA-AB-2882-03A-01W-0761-09 TCGA-AB-2882-11A-01W-0732-08 T T T C T T Verified Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq 1 dbGAP Illumina HiSeq b94e2b78-8092-49af-9c9e-7fd612b89793 22830365-9194-4c33-98d3-294740f281eb 22 28296426 28296426 T C SNP NIPSNAP1 NM_003634.2 human genbank 54_36p -1 reviewed missense c.194 p.K65R 1.000 NULL HMMPfam_NIPSNAP - no_errors 764 20 2.55 100 74 42.53 19 12 38.71 +BCHE 0 genome.wustl.edu 37 3 165548476 165548476 + Frame_Shift_Del DEL G G - TCGA-AB-2882-03A-01W-0761-09 TCGA-AB-2882-11A-01W-0732-08 G G G - G G Verified Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq 1 dbGAP Illumina HiSeq b94e2b78-8092-49af-9c9e-7fd612b89793 22830365-9194-4c33-98d3-294740f281eb 3 167031170 167031170 G - DEL BCHE NM_000055.2 human genbank 54_36p -1 reviewed frame_shift_del c.346 p.L116fs 0.974 HMMPfam_COesterase,superfamily_SSF53474 HMMPfam_COesterase,HMMPfam_AChE_tetra,PatternScan_CARBOXYLESTERASE_B_2,PatternScan_CARBOXYLESTERASE_B_1,superfamily_SSF53474 - no_errors 128 0 0.00 83 33 28.45 0 0 0.00 +KDM6A 0 genome.wustl.edu 37 X 44969323 44969323 + Splice_Site SNP G G A TCGA-AB-2883-03A-01W-0732-08 TCGA-AB-2883-11A-01W-0732-08 G G G A G G Verified Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq 1 dbGAP Illumina HiSeq 343d8d8d-6d80-4c2c-b5f7-914abd60201c ccccf8f4-686f-4609-b8f5-8a43f30b706f X 44854267 44854267 G A SNP UTX NM_021140.2 human genbank 54_36p +1 validated splice_site c.4006-1 e28-1 1.000 - - - no_errors 27 23 46.00 4 17 80.95 0 2 100.00 +IFI44 0 genome.wustl.edu 37 1 79125028 79125028 + Missense_Mutation SNP A A T TCGA-AB-2884-03A-01W-0732-08 TCGA-AB-2884-11A-01W-0732-08 A A A T A A Verified Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq 1 dbGAP Illumina HiSeq 37c88c38-7f22-41c1-862c-6b9708c97d50 e592e767-0453-45cc-98a6-ba9ba48c6622 1 78897616 78897616 A T SNP IFI44 NM_006417.4 human genbank 54_36p +1 validated missense c.872 p.H291L 0.000 superfamily_SSF52540 superfamily_SSF52540 - no_errors 106 13 10.83 85 48 35.56 8 11 57.89 +DNMT3A 0 genome.wustl.edu 37 2 25457242 25457242 + Missense_Mutation SNP C C T TCGA-AB-2884-03A-01W-0732-08 TCGA-AB-2884-11A-01W-0732-08 C C C T C C Verified Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq 1 dbGAP Illumina HiSeq 37c88c38-7f22-41c1-862c-6b9708c97d50 e592e767-0453-45cc-98a6-ba9ba48c6622 2 25310746 25310746 C T SNP DNMT3A NM_022552.3 human genbank 54_36p -1 reviewed missense c.2645 p.R882H 1.000 superfamily_S-adenosyl-L-methionine-dependent methyltransferases HMMPfam_PWWP,HMMSmart_SM00293,HMMPfam_DNA_methylase,superfamily_FYVE/PHD zinc finger,PatternScan_C5_MTASE_1,superfamily_S-adenosyl-L-methionine-dependent methyltransferases,superfamily_Tudor/PWWP/MBT - no_errors 67 11 13.92 75 61 43.88 23 25 52.08 +IDH1 0 genome.wustl.edu 37 2 209113112 209113112 + Missense_Mutation SNP C C T rs121913500 TCGA-AB-2884-03A-01W-0732-08 TCGA-AB-2884-11A-01W-0732-08 C C C T C C Verified Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq 1 dbGAP Illumina HiSeq 37c88c38-7f22-41c1-862c-6b9708c97d50 e592e767-0453-45cc-98a6-ba9ba48c6622 2 208821357 208821357 C T SNP IDH1 NM_005896.2 human genbank 54_36p -1 reviewed missense c.395 p.R132H 1.000 HMMPfam_Iso_dh,superfamily_Isocitrate/Isopropylmalate dehydrogenase-like HMMPfam_Iso_dh,PatternScan_IDH_IMDH,superfamily_Isocitrate/Isopropylmalate dehydrogenase-like - no_errors 82 8 8.89 47 55 53.40 101 105 50.97 +PTPN11 0 genome.wustl.edu 37 12 112888195 112888195 + Missense_Mutation SNP T T C TCGA-AB-2884-03A-01W-0732-08 TCGA-AB-2884-11A-01W-0732-08 T T T C T T Verified Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq 1 dbGAP Illumina HiSeq 37c88c38-7f22-41c1-862c-6b9708c97d50 e592e767-0453-45cc-98a6-ba9ba48c6622 12 111372578 111372578 T C SNP PTPN11 NM_002834.3 human genbank 54_36p +1 reviewed missense c.211 p.F71L 1.000 HMMPfam_SH2,HMMSmart_SM00252,superfamily_SH2 domain HMMPfam_Y_phosphatase,HMMSmart_SM00194,HMMPfam_SH2,HMMSmart_SM00252,HMMSmart_SM00404,PatternScan_TYR_PHOSPHATASE_1,superfamily_(Phosphotyrosine protein) phosphatases II,superfamily_SH2 domain - no_errors 98 17 14.41 60 66 51.97 18 10 35.71 +NPM1 0 genome.wustl.edu 37 5 170837543 170837544 + Frame_Shift_Ins INS - - TCTG TCGA-AB-2884-03A-01W-0732-08 TCGA-AB-2884-11A-01W-0732-08 - - - TCTG - - Verified Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq 1 dbGAP Illumina HiSeq 37c88c38-7f22-41c1-862c-6b9708c97d50 e592e767-0453-45cc-98a6-ba9ba48c6622 5 170770148 170770149 - TCTG INS NPM1 NM_002520.1 human genbank 54_36p +1 validated frame_shift_ins c.859_860 p.W288fs 1.000:1.000 NULL HMMPfam_Nucleoplasmin,superfamily_Nucleoplasmin-like core domain - no_errors NA NA NA NA NA NA NA NA NA +KCNK13 0 genome.wustl.edu 37 14 90651284 90651285 + Frame_Shift_Ins INS - - G TCGA-AB-2884-03A-01W-0732-08 TCGA-AB-2884-11A-01W-0732-08 - - - G - - Verified Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq 1 dbGAP Illumina HiSeq 37c88c38-7f22-41c1-862c-6b9708c97d50 e592e767-0453-45cc-98a6-ba9ba48c6622 14 89721037 89721038 - G INS KCNK13 NM_022054.2 human genbank 54_36p +1 reviewed frame_shift_ins c.1164_1165 p.V390fs 0.880:1.000 NULL HMMPfam_Ion_trans_2,superfamily_Voltage-gated potassium channels - no_errors 29 0 0.00 42 4 8.70 0 0 0.00 +MTMR8 0 genome.wustl.edu 37 X 63574712 63574712 + Missense_Mutation SNP C C T TCGA-AB-2885-03A-01W-0732-08 TCGA-AB-2885-11A-01W-0732-08 C C C T C C Verified Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq 1 dbGAP Illumina HiSeq d5c78933-a17c-449c-a24d-730ea0f7a9cd f62da227-622a-4139-9229-acd0939a17c3 X 63491437 63491437 C T SNP MTMR8 NM_017677.2 human genbank 54_36p -1 provisional missense c.413 p.R138H 0.799 superfamily_(Phosphotyrosine protein) phosphatases II HMMSmart_SM00404,HMMPfam_Myotub-related,PatternScan_TYR_PHOSPHATASE_1,superfamily_PH domain-like,superfamily_(Phosphotyrosine protein) phosphatases II - no_errors 199 4 1.97 14 53 77.94 0 3 100.00 +ITGA10 0 genome.wustl.edu 37 1 145541826 145541826 + Missense_Mutation SNP C C T TCGA-AB-2885-03A-01W-0732-08 TCGA-AB-2885-11A-01W-0732-08 C C C T C C Verified Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq 1 dbGAP Illumina HiSeq d5c78933-a17c-449c-a24d-730ea0f7a9cd f62da227-622a-4139-9229-acd0939a17c3 1 144253183 144253183 C T SNP ITGA10 NM_003637.3 human genbank 54_36p +1 reviewed missense c.3349 p.R1117W 0.811 superfamily_Integrin domains HMMPfam_VWA,HMMSmart_SM00327,HMMPfam_FG-GAP,HMMSmart_SM00191,HMMPfam_Integrin_alpha2,superfamily_vWA-like,superfamily_Integrin domains,superfamily_Integrin alpha N-terminal domain - no_errors 282 0 0.00 78 75 48.39 NA NA NA +LRP1B 0 genome.wustl.edu 37 2 141526782 141526782 + Missense_Mutation SNP C C T TCGA-AB-2885-03A-01W-0732-08 TCGA-AB-2885-11A-01W-0732-08 C C C T C C Verified Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq 1 dbGAP Illumina HiSeq d5c78933-a17c-449c-a24d-730ea0f7a9cd f62da227-622a-4139-9229-acd0939a17c3 2 141243252 141243252 C T SNP LRP1B NM_018557.2 human genbank 54_36p -1 validated missense c.5758 p.E1920K 1.000 HMMSmart_LY,superfamily_SSF63825 HMMPfam_Ldl_recept_b,HMMSmart_LY,PatternScan_ASX_HYDROXYL,HMMPfam_NHL,HMMSmart_EGF_CA,HMMPfam_Ldl_recept_a,HMMSmart_LDLa,PatternScan_LDLRA_1,superfamily_LDL_rcpt_classA_cys-rich,HMMPfam_EGF,HMMSmart_EGF,PatternScan_EGF_1,PatternScan_EGF_2,HMMPfam_EGF_CA,HMMPfam_EGF_2,PatternScan_EGF_CA,superfamily_SSF57196,superfamily_SSF63825 - no_errors 104 0 0.00 39 28 41.79 NA NA NA +XIRP2 0 genome.wustl.edu 37 2 168107404 168107404 + Missense_Mutation SNP G G A TCGA-AB-2885-03A-01W-0732-08 TCGA-AB-2885-11A-01W-0732-08 G G G A G G Verified Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq 1 dbGAP Illumina HiSeq d5c78933-a17c-449c-a24d-730ea0f7a9cd f62da227-622a-4139-9229-acd0939a17c3 2 167815650 167815650 G A SNP XIRP2 NM_152381.2 human genbank 54_36p +1 validated missense c.9502 p.A3168T 0.001 NULL HMMPfam_Xin - no_errors 179 0 0.00 50 43 46.24 1 0 0.00 +BSN 0 genome.wustl.edu 37 3 49689598 49689598 + Missense_Mutation SNP C C T TCGA-AB-2885-03A-01W-0732-08 TCGA-AB-2885-11A-01W-0732-08 C C C T C C Verified Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq 1 dbGAP Illumina HiSeq d5c78933-a17c-449c-a24d-730ea0f7a9cd f62da227-622a-4139-9229-acd0939a17c3 3 49664602 49664602 C T SNP BSN NM_003458.3 human genbank 54_36p +1 validated missense c.2609 p.A870V 1.000 NULL HMMPfam_zf-piccolo,superfamily_FYVE_PHD_ZnF - no_errors 65 0 0.00 1 8 88.89 NA NA NA +FAM40B 0 genome.wustl.edu 37 7 129093996 129093996 + Missense_Mutation SNP T T C TCGA-AB-2885-03A-01W-0732-08 TCGA-AB-2885-11A-01W-0732-08 T T T C T T Verified Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq 1 dbGAP Illumina HiSeq d5c78933-a17c-449c-a24d-730ea0f7a9cd f62da227-622a-4139-9229-acd0939a17c3 7 128881232 128881232 T C SNP FAM40B NM_020704.1 human genbank 54_36p +1 validated missense c.544 p.C182R 1.000 HMMPfam_N1221 HMMPfam_N1221 - no_errors 215 0 0.00 10 21 67.74 NA NA NA +RFX3 0 genome.wustl.edu 37 9 3271010 3271010 + Missense_Mutation SNP C C T TCGA-AB-2885-03A-01W-0732-08 TCGA-AB-2885-11A-01W-0732-08 C C C T C C Verified Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq 1 dbGAP Illumina HiSeq d5c78933-a17c-449c-a24d-730ea0f7a9cd f62da227-622a-4139-9229-acd0939a17c3 9 3261010 3261010 C T SNP RFX3 NM_134428.2 human genbank 54_36p -1 reviewed missense c.1195 p.E399K 1.000 NULL HMMPfam_RFX_DNA_binding,HMMPfam_RFX1_trans_act,superfamily_"Winged helix" DNA-binding domain - no_errors 386 0 0.00 93 68 42.24 11 7 38.89 +MRE11A 0 genome.wustl.edu 37 11 94192645 94192645 + Missense_Mutation SNP G G C TCGA-AB-2885-03A-01W-0732-08 TCGA-AB-2885-11A-01W-0732-08 G G G C G G Verified Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq 1 dbGAP Illumina HiSeq d5c78933-a17c-449c-a24d-730ea0f7a9cd f62da227-622a-4139-9229-acd0939a17c3 11 93832293 93832293 G C SNP MRE11A NM_005591.3 human genbank 54_36p -1 reviewed missense c.1429 p.Q477E 1.000 NULL HMMPfam_Metallophos,HMMPfam_Mre11_DNA_bind,superfamily_Metallo-dependent phosphatases - no_errors 331 1 0.30 165 76 31.40 53 35 39.77 +PTPN11 0 genome.wustl.edu 37 12 112888163 112888163 + Missense_Mutation SNP G G T TCGA-AB-2885-03A-01W-0732-08 TCGA-AB-2885-11A-01W-0732-08 G G G T G G Verified Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq 1 dbGAP Illumina HiSeq d5c78933-a17c-449c-a24d-730ea0f7a9cd f62da227-622a-4139-9229-acd0939a17c3 12 111372546 111372546 G T SNP PTPN11 NM_002834.3 human genbank 54_36p +1 reviewed missense c.179 p.G60V 1.000 HMMPfam_SH2,HMMSmart_SM00252,superfamily_SH2 domain HMMPfam_Y_phosphatase,HMMSmart_SM00194,HMMPfam_SH2,HMMSmart_SM00252,HMMSmart_SM00404,PatternScan_TYR_PHOSPHATASE_1,superfamily_(Phosphotyrosine protein) phosphatases II,superfamily_SH2 domain - no_errors 62 0 0.00 52 16 23.19 75 47 38.52 +TP53 0 genome.wustl.edu 37 17 7578272 7578272 + Missense_Mutation SNP G G A TCGA-AB-2885-03A-01W-0732-08 TCGA-AB-2885-11A-01W-0732-08 G G G A G G Verified Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq 1 dbGAP Illumina HiSeq d5c78933-a17c-449c-a24d-730ea0f7a9cd f62da227-622a-4139-9229-acd0939a17c3 17 7518997 7518997 G A SNP TP53 NM_000546.4 human genbank 54_36p -1 reviewed missense c.577 p.H193Y 1.000 superfamily_p53-like transcription factors,HMMPfam_P53 PatternScan_P53,superfamily_p53-like transcription factors,HMMPfam_P53_tetramer,superfamily_p53 tetramerization domain,HMMPfam_P53,HMMPfam_P53_TAD - no_errors 161 0 0.00 17 68 79.07 1 149 99.33 +ASXL3 0 genome.wustl.edu 37 18 31314300 31314300 + Missense_Mutation SNP C C T TCGA-AB-2885-03A-01W-0732-08 TCGA-AB-2885-11A-01W-0732-08 C C C T C C Verified Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq 1 dbGAP Illumina HiSeq d5c78933-a17c-449c-a24d-730ea0f7a9cd f62da227-622a-4139-9229-acd0939a17c3 18 29568298 29568298 C T SNP ASXL3 NM_030632.1 human genbank 54_36p +1 validated missense c.1003 p.R335W 1.000 NULL NULL - no_errors 131 0 0.00 15 39 72.22 NA NA NA +PTPRT 0 genome.wustl.edu 37 20 40747084 40747084 + Missense_Mutation SNP C C T TCGA-AB-2885-03A-01W-0732-08 TCGA-AB-2885-11A-01W-0732-08 C C C T C C Verified Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq 1 dbGAP Illumina HiSeq d5c78933-a17c-449c-a24d-730ea0f7a9cd f62da227-622a-4139-9229-acd0939a17c3 20 40180498 40180498 C T SNP PTPRT NM_133170.5 human genbank 54_36p -1 reviewed missense c.2998 p.A1000T 0.987 HMMPfam_Y_phosphatase,HMMSmart_SM00194,superfamily_(Phosphotyrosine protein) phosphatases II HMMPfam_Y_phosphatase,HMMSmart_SM00194,HMMPfam_MAM,HMMSmart_SM00137,PatternScan_MAM_1,HMMSmart_SM00404,HMMPfam_fn3,HMMSmart_SM00060,superfamily_Fibronectin type III,PatternScan_TYR_PHOSPHATASE_1,superfamily_Immunoglobulin,superfamily_(Phosphotyrosine protein) phosphatases II - no_errors 234 0 0.00 58 39 40.21 NA NA NA +FOXP4 0 genome.wustl.edu 37 6 41555574 41555575 + Frame_Shift_Ins INS - - A TCGA-AB-2885-03A-01W-0732-08 TCGA-AB-2885-11A-01W-0732-08 - - - A - - Verified Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq 1 dbGAP Illumina HiSeq d5c78933-a17c-449c-a24d-730ea0f7a9cd f62da227-622a-4139-9229-acd0939a17c3 6 41663552 41663553 - A INS FOXP4 NM_001012426.1 human genbank 54_36p +1 reviewed frame_shift_ins c.916_917 p.H306fs 1.000:1.000 NULL HMMPfam_Fork_head,HMMSmart_SM00339,PatternScan_ZINC_FINGER_C2H2_1,PatternScan_FORK_HEAD_2,superfamily_"Winged helix" DNA-binding domain - no_errors 48 0 0.00 11 5 31.25 1 0 0.00 +LOC643563 0 genome.wustl.edu 37 X 97644716 97644716 + Missense_Mutation SNP C C T TCGA-AB-2886-03A-01W-0732-08 TCGA-AB-2886-11A-01W-0732-08 C C C T C C Verified Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq 1 dbGAP Illumina HiSeq 702a5002-ba2b-4968-bd1c-81f0eeb119ed 44b7e43b-2907-4b6e-8341-c1e2aece5328 X 97531372 97531372 C T SNP LOC643563 XM_926863.1 human genbank 54_36p +1 model missense c.209 p.S70F 1.000 HMMPfam_GTP_EFTU,superfamily_P-loop containing nucleoside triphosphate hydrolases HMMPfam_GTP_EFTU,superfamily_P-loop containing nucleoside triphosphate hydrolases - no_errors 87 0 0.00 25 87 76.32 NA NA NA +CNTNAP5 0 genome.wustl.edu 37 2 125175092 125175092 + Missense_Mutation SNP G G T TCGA-AB-2886-03A-01W-0732-08 TCGA-AB-2886-11A-01W-0732-08 G G G T G G Verified Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq 1 dbGAP Illumina HiSeq 702a5002-ba2b-4968-bd1c-81f0eeb119ed 44b7e43b-2907-4b6e-8341-c1e2aece5328 2 124891562 124891562 G T SNP CNTNAP5 NM_130773.2 human genbank 54_36p +1 reviewed missense c.454 p.V152F 0.957 HMMPfam_F5_F8_type_C,HMMSmart_FA58C,superfamily_Gal_bind_like HMMPfam_F5_F8_type_C,HMMSmart_FA58C,PatternScan_FA58C_1,PatternScan_FA58C_2,HMMSmart_LamG,PatternScan_FIBRIN_AG_C_DOMAIN,superfamily_Fibrinogen_a/b/g_C,HMMPfam_EGF,HMMSmart_EGF,superfamily_Gal_bind_like,superfamily_ConA_like_lec_gl,HMMPfam_Laminin_G_2,PatternScan_EGF_1,PatternScan_EGF_2 - no_errors 170 0 0.00 154 131 45.80 NA NA NA +ITPR3 0 genome.wustl.edu 37 6 33638467 33638467 + Missense_Mutation SNP G G A TCGA-AB-2886-03A-01W-0732-08 TCGA-AB-2886-11A-01W-0732-08 G G G A G G Verified Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq 1 dbGAP Illumina HiSeq 702a5002-ba2b-4968-bd1c-81f0eeb119ed 44b7e43b-2907-4b6e-8341-c1e2aece5328 6 33746445 33746445 G A SNP ITPR3 NM_002224.2 human genbank 54_36p +1 validated missense c.2461 p.A821T 0.921 NULL HMMPfam_RYDR_ITPR,HMMPfam_MIR,superfamily_MIR,HMMPfam_Ion_trans,HMMPfam_RIH_assoc,HMMPfam_Ins145_P3_rec,HMMSmart_MIR,superfamily_SSF100909 - no_errors 28 1 3.45 34 11 24.44 6 0 0.00 +DNAH11 0 genome.wustl.edu 37 7 21784673 21784673 + Missense_Mutation SNP G G T TCGA-AB-2886-03A-01W-0732-08 TCGA-AB-2886-11A-01W-0732-08 G G G T G G Verified Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq 1 dbGAP Illumina HiSeq 702a5002-ba2b-4968-bd1c-81f0eeb119ed 44b7e43b-2907-4b6e-8341-c1e2aece5328 7 21751198 21751198 G T SNP DNAH11 ENST00000328843 human ensembl 54_36p +1 known missense c.8523 p.M2841I 1.000 superfamily_P-loop containing nucleoside triphosphate hydrolases PatternScan_THIOL_PROTEASE_HIS,HMMSmart_SM00382,HMMPfam_Dynein_heavy,HMMPfam_AAA_5,HMMPfam_DHC_N1,HMMPfam_DHC_N2,PatternScan_WD_REPEATS_1,superfamily_P-loop containing nucleoside triphosphate hydrolases - no_errors 82 0 0.00 111 20 15.15 NA NA NA +CLCN1 0 genome.wustl.edu 37 7 143029829 143029829 + Missense_Mutation SNP G G A TCGA-AB-2886-03A-01W-0732-08 TCGA-AB-2886-11A-01W-0732-08 G G G A G G Verified Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq 1 dbGAP Illumina HiSeq 702a5002-ba2b-4968-bd1c-81f0eeb119ed 44b7e43b-2907-4b6e-8341-c1e2aece5328 7 142739951 142739951 G A SNP CLCN1 NM_000083.2 human genbank 54_36p +1 reviewed missense c.1264 p.E422K 1.000 HMMPfam_Voltage_CLC,superfamily_Clc chloride channel HMMPfam_CBS,HMMPfam_Voltage_CLC,superfamily_Clc chloride channel,superfamily_CBS-domain - no_errors 220 2 0.90 107 57 34.34 NA NA NA +C9orf174 0 genome.wustl.edu 37 9 100077177 100077177 + Silent SNP T T C TCGA-AB-2886-03A-01W-0732-08 TCGA-AB-2886-11A-01W-0732-08 T T T C T T Verified Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq 1 dbGAP Illumina HiSeq 702a5002-ba2b-4968-bd1c-81f0eeb119ed 44b7e43b-2907-4b6e-8341-c1e2aece5328 9 99116998 99116998 T C SNP KIAA1529 NM_020893.1 human genbank 54_36p +1 predicted silent c.1293 p.T431 0.170 NULL NULL - no_errors 40 0 0.00 37 4 9.76 7 0 0.00 +RAP1B 0 genome.wustl.edu 37 12 69042539 69042539 + Missense_Mutation SNP G G A TCGA-AB-2886-03A-01W-0732-08 TCGA-AB-2886-11A-01W-0732-08 G G G A G G Verified Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq 1 dbGAP Illumina HiSeq 702a5002-ba2b-4968-bd1c-81f0eeb119ed 44b7e43b-2907-4b6e-8341-c1e2aece5328 12 67328806 67328806 G A SNP RAP1B NM_001010942.1 human genbank 54_36p +1 validated missense c.35 p.G12E 1.000 HMMSmart_SM00176,HMMSmart_SM00173,HMMSmart_SM00174,HMMSmart_SM00175,HMMPfam_Ras,superfamily_P-loop containing nucleoside triphosphate hydrolases HMMSmart_SM00176,HMMSmart_SM00173,HMMSmart_SM00174,HMMSmart_SM00175,HMMPfam_Ras,superfamily_P-loop containing nucleoside triphosphate hydrolases - no_errors 90 0 0.00 55 17 23.29 50 34 40.48 +PKD1L2 0 genome.wustl.edu 37 16 81190547 81190547 + Missense_Mutation SNP C C T TCGA-AB-2886-03A-01W-0732-08 TCGA-AB-2886-11A-01W-0732-08 C C C T C C Verified Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq 1 dbGAP Illumina HiSeq 702a5002-ba2b-4968-bd1c-81f0eeb119ed 44b7e43b-2907-4b6e-8341-c1e2aece5328 16 79748048 79748048 C T SNP PKD1L2 ENST00000299598 human ensembl 54_36p -1 known missense c.4042 p.V1348M 1.000 NULL HMMPfam_GPS,HMMSmart_SM00303,PatternScan_CHANNEL_COLICIN,HMMPfam_PLAT,HMMSmart_SM00308,HMMPfam_Lectin_C,HMMSmart_SM00034,superfamily_Lipase/lipooxygenase domain (PLAT/LH2 domain),HMMPfam_PKD_channel,superfamily_C-type lectin-like - no_errors 76 1 1.27 27 18 40.00 NA NA NA +C17orf97 0 genome.wustl.edu 37 17 263017 263017 + Missense_Mutation SNP G G C TCGA-AB-2886-03A-01W-0732-08 TCGA-AB-2886-11A-01W-0732-08 G G G C G G Verified Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq 1 dbGAP Illumina HiSeq 702a5002-ba2b-4968-bd1c-81f0eeb119ed 44b7e43b-2907-4b6e-8341-c1e2aece5328 17 263333 263333 G C SNP C17orf97 NM_001013672.3 human genbank 54_36p +1 validated missense c.383 p.R128P 0.000 NULL NULL - no_errors 57 1 1.69 50 32 39.02 5 1 16.67 +MYO5B 0 genome.wustl.edu 37 18 47369719 47369719 + Silent SNP G G A TCGA-AB-2886-03A-01W-0732-08 TCGA-AB-2886-11A-01W-0732-08 G G G A G G Verified Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq 1 dbGAP Illumina HiSeq 702a5002-ba2b-4968-bd1c-81f0eeb119ed 44b7e43b-2907-4b6e-8341-c1e2aece5328 18 45623717 45623717 G A SNP MYO5B NM_001080467.1 human genbank 54_36p -1 provisional silent c.4503 p.P1501 0.634 NULL HMMPfam_IQ,HMMSmart_SM00015,HMMPfam_Myosin_head,HMMSmart_SM00242,HMMPfam_DIL,superfamily_P-loop containing nucleoside triphosphate hydrolases - no_errors 59 0 0.00 67 42 38.53 NA NA NA +JAK3 0 genome.wustl.edu 37 19 17949108 17949108 + Missense_Mutation SNP C C T TCGA-AB-2886-03A-01W-0732-08 TCGA-AB-2886-11A-01W-0732-08 C C C T C C Verified Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq 1 dbGAP Illumina HiSeq 702a5002-ba2b-4968-bd1c-81f0eeb119ed 44b7e43b-2907-4b6e-8341-c1e2aece5328 19 17810108 17810108 C T SNP JAK3 NM_000215.3 human genbank 54_36p -1 reviewed missense c.1533 p.M511I 0.993 superfamily_Protein kinase-like (PK-like),superfamily_SH2 domain PatternScan_THIOL_PROTEASE_HIS,HMMSmart_SM00252,HMMPfam_Pkinase_Tyr,HMMSmart_SM00219,HMMSmart_SM00220,PatternScan_PROTEIN_KINASE_TYR,superfamily_Protein kinase-like (PK-like),PatternScan_PROTEIN_KINASE_ATP,HMMSmart_SM00295,superfamily_SH2 domain - no_errors 108 0 0.00 72 12 14.12 229 52 18.51 +TSKS 0 genome.wustl.edu 37 19 50243431 50243431 + Missense_Mutation SNP G G A TCGA-AB-2886-03A-01W-0732-08 TCGA-AB-2886-11A-01W-0732-08 G G G A G G Verified Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq 1 dbGAP Illumina HiSeq 702a5002-ba2b-4968-bd1c-81f0eeb119ed 44b7e43b-2907-4b6e-8341-c1e2aece5328 19 54935243 54935243 G A SNP TSKS NM_021733.1 human genbank 54_36p -1 reviewed missense c.1507 p.R503C 1.000 NULL NULL - no_errors 87 0 0.00 82 10 10.75 9 1 10.00 +PI4KA 0 genome.wustl.edu 37 22 21107281 21107281 + Missense_Mutation SNP C C A TCGA-AB-2886-03A-01W-0732-08 TCGA-AB-2886-11A-01W-0732-08 C C C A C C Verified Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq 1 dbGAP Illumina HiSeq 702a5002-ba2b-4968-bd1c-81f0eeb119ed 44b7e43b-2907-4b6e-8341-c1e2aece5328 22 19437281 19437281 C A SNP PI4KA NM_058004.2 human genbank 54_36p -1 reviewed missense c.2723 p.R908L 1.000 NULL HMMPfam_PI3_PI4_kinase,HMMSmart_SM00146,HMMPfam_PI3Ka,HMMSmart_SM00145,superfamily_Protein kinase-like (PK-like),superfamily_ARM repeat,PatternScan_PI3_4_KINASE_1,PatternScan_PI3_4_KINASE_2 - no_errors 58 0 0.00 70 37 33.64 72 56 43.41 +GIGYF2 0 genome.wustl.edu 37 2 233681680 233681681 + Frame_Shift_Ins INS - - GGCT TCGA-AB-2886-03A-01W-0732-08 TCGA-AB-2886-11A-01W-0732-08 - - - GGCT - - Verified Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq 1 dbGAP Illumina HiSeq 702a5002-ba2b-4968-bd1c-81f0eeb119ed 44b7e43b-2907-4b6e-8341-c1e2aece5328 2 233389924 233389925 - GGCT INS GIGYF2 NM_001103147.1 human genbank 54_36p +1 validated frame_shift_ins c.2371_2372 p.R792fs 0.997:1.000 NULL HMMPfam_GYF,HMMSmart_GYF,superfamily_GYF - no_errors NA NA NA NA NA NA NA NA NA +PLXND1 0 genome.wustl.edu 37 3 129303234 129303235 + Frame_Shift_Ins INS - - G TCGA-AB-2886-03A-01W-0732-08 TCGA-AB-2886-11A-01W-0732-08 - - - G - - Verified Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq 1 dbGAP Illumina HiSeq 702a5002-ba2b-4968-bd1c-81f0eeb119ed 44b7e43b-2907-4b6e-8341-c1e2aece5328 3 130785924 130785925 - G INS PLXND1 NM_015103.2 human genbank 54_36p -1 validated frame_shift_ins c.2023_2022 p.N674fs 0.280:0.287 NULL HMMPfam_Sema,HMMSmart_SM00630,superfamily_Sema domain,HMMPfam_PSI,HMMPfam_TIG,HMMSmart_SM00429,HMMSmart_SM00423,superfamily_GTPase activation domain GAP,HMMPfam_Plexin_cytopl,superfamily_E set domains,superfamily_Plexin repeat - no_errors 23 0 0.00 60 7 10.45 259 0 0.00 +RAD21 0 genome.wustl.edu 37 8 117864298 117864298 + Frame_Shift_Del DEL C C - TCGA-AB-2886-03A-01W-0732-08 TCGA-AB-2886-11A-01W-0732-08 C C C - C C Verified Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq 1 dbGAP Illumina HiSeq 702a5002-ba2b-4968-bd1c-81f0eeb119ed 44b7e43b-2907-4b6e-8341-c1e2aece5328 8 117933479 117933479 C - DEL RAD21 NM_006265.2 human genbank 54_36p -1 reviewed frame_shift_del c.1359 p.E453fs 0.960 NULL HMMPfam_Rad21_Rec8,HMMPfam_Rad21_Rec8_N - no_errors 79 1 1.23 64 46 41.44 22 0 0.00 +BRWD3 0 genome.wustl.edu 37 X 79988964 79988964 + Missense_Mutation SNP T T C TCGA-AB-2887-03A-01W-0732-08 TCGA-AB-2887-11A-01W-0732-08 T T T C T T Verified Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq 1 dbGAP Illumina HiSeq 63b061fa-a51b-4160-8cf6-cb6d17bd5c5a 191233e7-e123-4253-922e-983ab11690b8 X 79875620 79875620 T C SNP BRWD3 NM_153252.3 human genbank 54_36p -1 validated missense c.1118 p.N373S 1.000 HMMSmart_SM00320,superfamily_YVTN repeat-like/Quinoprotein amine dehydrogenase,HMMPfam_WD40 HMMPfam_Bromodomain,HMMSmart_SM00297,superfamily_Bromodomain,HMMSmart_SM00320,superfamily_YVTN repeat-like/Quinoprotein amine dehydrogenase,PatternScan_WD_REPEATS_1,HMMPfam_WD40 - no_errors 151 15 8.98 47 37 44.05 0 31 96.88 +NRAS 0 genome.wustl.edu 37 1 115258747 115258747 + Missense_Mutation SNP C C T rs121913237 TCGA-AB-2887-03A-01W-0732-08 TCGA-AB-2887-11A-01W-0732-08 C C C T C C Verified Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq 1 dbGAP Illumina HiSeq 63b061fa-a51b-4160-8cf6-cb6d17bd5c5a 191233e7-e123-4253-922e-983ab11690b8 1 115060270 115060270 C T SNP NRAS NM_002524.3 human genbank 54_36p -1 reviewed missense c.35 p.G12D 1.000 HMMSmart_SM00173,HMMSmart_SM00174,HMMSmart_SM00175,HMMPfam_Ras,superfamily_P-loop containing nucleoside triphosphate hydrolases HMMSmart_SM00173,HMMSmart_SM00174,HMMSmart_SM00175,HMMPfam_Ras,superfamily_P-loop containing nucleoside triphosphate hydrolases - no_errors 123 10 7.41 54 41 42.71 29 21 42.00 +TMEM18 0 genome.wustl.edu 37 2 677320 677320 + Missense_Mutation SNP G G C TCGA-AB-2887-03A-01W-0732-08 TCGA-AB-2887-11A-01W-0732-08 G G G C G G Verified Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq 1 dbGAP Illumina HiSeq 63b061fa-a51b-4160-8cf6-cb6d17bd5c5a 191233e7-e123-4253-922e-983ab11690b8 2 667320 667320 G C SNP TMEM18 NM_152834.2 human genbank 54_36p -1 validated missense c.26 p.S9C 0.002 NULL NULL - no_errors 44 4 8.16 23 20 46.51 12 11 47.83 +DNMT3A 0 genome.wustl.edu 37 2 25463529 25463529 + Missense_Mutation SNP G G A TCGA-AB-2887-03A-01W-0732-08 TCGA-AB-2887-11A-01W-0732-08 G G G A G G Verified Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq 1 dbGAP Illumina HiSeq 63b061fa-a51b-4160-8cf6-cb6d17bd5c5a 191233e7-e123-4253-922e-983ab11690b8 2 25317033 25317033 G A SNP DNMT3A NM_022552.3 human genbank 54_36p -1 reviewed missense c.2153 p.P718L 1.000 HMMPfam_DNA_methylase,superfamily_S-adenosyl-L-methionine-dependent methyltransferases HMMPfam_PWWP,HMMSmart_SM00293,HMMPfam_DNA_methylase,superfamily_FYVE/PHD zinc finger,PatternScan_C5_MTASE_1,superfamily_S-adenosyl-L-methionine-dependent methyltransferases,superfamily_Tudor/PWWP/MBT - no_errors 28 5 15.15 1 14 93.33 1 132 98.51 +PRKD3 0 genome.wustl.edu 37 2 37480342 37480342 + Missense_Mutation SNP T T C TCGA-AB-2887-03A-01W-0732-08 TCGA-AB-2887-11A-01W-0732-08 T T T C T T Verified Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq 1 dbGAP Illumina HiSeq 63b061fa-a51b-4160-8cf6-cb6d17bd5c5a 191233e7-e123-4253-922e-983ab11690b8 2 37333846 37333846 T C SNP PRKD3 NM_005813.3 human genbank 54_36p -1 reviewed missense c.2651 p.D884G 1.000 NULL HMMSmart_SM00219,HMMPfam_PH,HMMSmart_SM00233,HMMPfam_C1_1,HMMSmart_SM00109,PatternScan_ZF_DAG_PE_1,HMMSmart_SM00220,PatternScan_PROTEIN_KINASE_ST,superfamily_Protein kinase-like (PK-like),PatternScan_PROTEIN_KINASE_ATP,HMMPfam_Pkinase,superfamily_PH domain-like,superfamily_Cysteine-rich domain - no_errors 122 10 7.46 76 78 50.65 42 45 51.72 +IDH1 0 genome.wustl.edu 37 2 209113113 209113113 + Missense_Mutation SNP G G A rs121913499 TCGA-AB-2887-03A-01W-0732-08 TCGA-AB-2887-11A-01W-0732-08 G G G A G G Verified Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq 1 dbGAP Illumina HiSeq 63b061fa-a51b-4160-8cf6-cb6d17bd5c5a 191233e7-e123-4253-922e-983ab11690b8 2 208821358 208821358 G A SNP IDH1 NM_005896.2 human genbank 54_36p -1 reviewed missense c.394 p.R132C 1.000 HMMPfam_Iso_dh,superfamily_Isocitrate/Isopropylmalate dehydrogenase-like HMMPfam_Iso_dh,PatternScan_IDH_IMDH,superfamily_Isocitrate/Isopropylmalate dehydrogenase-like - no_errors 56 10 14.49 22 20 47.62 35 54 60.67 +TMEM108 0 genome.wustl.edu 37 3 133114756 133114756 + Missense_Mutation SNP A A T TCGA-AB-2887-03A-01W-0732-08 TCGA-AB-2887-11A-01W-0732-08 A A A T A A Verified Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq 1 dbGAP Illumina HiSeq 63b061fa-a51b-4160-8cf6-cb6d17bd5c5a 191233e7-e123-4253-922e-983ab11690b8 3 134597446 134597446 A T SNP TMEM108 NM_023943.1 human genbank 54_36p +1 validated missense c.1654 p.T552S 1.000 NULL PatternScan_TONB_DEPENDENT_REC_1 - no_errors 48 3 5.88 19 17 47.22 NA NA NA +LAMA2 0 genome.wustl.edu 37 6 129704366 129704366 + Missense_Mutation SNP C C T TCGA-AB-2887-03A-01W-0732-08 TCGA-AB-2887-11A-01W-0732-08 C C C T C C Verified Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq 1 dbGAP Illumina HiSeq 63b061fa-a51b-4160-8cf6-cb6d17bd5c5a 191233e7-e123-4253-922e-983ab11690b8 6 129746059 129746059 C T SNP LAMA2 NM_000426.3 human genbank 54_36p +1 reviewed missense c.5059 p.R1687W 1.000 superfamily_ConA_like_lec_gl,HMMPfam_Laminin_I HMMPfam_Laminin_B,HMMSmart_LamG,HMMPfam_Laminin_EGF,HMMSmart_EGF_Lam,PatternScan_EGF_LAM_1,HMMPfam_Laminin_N,HMMSmart_LamNT,superfamily_Gal_bind_like,superfamily_ConA_like_lec_gl,HMMPfam_Laminin_I,HMMPfam_Laminin_II,HMMPfam_Laminin_G_1,HMMPfam_Laminin_G_2,PatternScan_EGF_1,PatternScan_EGF_2,HMMSmart_LamB,superfamily_SSF56399,superfamily_SSF57196 - no_errors 55 3 5.17 30 21 40.38 NA NA NA +EZH2 0 genome.wustl.edu 37 7 148506443 148506443 + Missense_Mutation SNP C C T TCGA-AB-2887-03A-01W-0732-08 TCGA-AB-2887-11A-01W-0732-08 C C C T C C Verified Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq 1 dbGAP Illumina HiSeq 63b061fa-a51b-4160-8cf6-cb6d17bd5c5a 191233e7-e123-4253-922e-983ab11690b8 7 148137376 148137376 C T SNP EZH2 NM_004456.3 human genbank 54_36p -1 reviewed missense c.2069 p.R690H 1.000 HMMPfam_SET,HMMSmart_SET,superfamily_SSF82199 HMMSmart_SANT,HMMPfam_SET,HMMSmart_SET,superfamily_SSF82199 - no_errors 84 10 10.64 3 42 93.33 1 28 96.55 +DYNC2H1 0 genome.wustl.edu 37 11 103039545 103039545 + Silent SNP T T C TCGA-AB-2887-03A-01W-0732-08 TCGA-AB-2887-11A-01W-0732-08 T T T C T T Verified Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq 1 dbGAP Illumina HiSeq 63b061fa-a51b-4160-8cf6-cb6d17bd5c5a 191233e7-e123-4253-922e-983ab11690b8 11 102544755 102544755 T C SNP DYNC2H1 NM_001080463.1 human genbank 54_36p +1 provisional silent c.4824 p.D1608 0.999 NULL HMMSmart_SM00382,HMMPfam_Dynein_heavy,HMMPfam_AAA_5,HMMPfam_DHC_N1,HMMPfam_DHC_N2,superfamily_P-loop containing nucleoside triphosphate hydrolases - no_errors 60 7 10.45 41 34 45.33 0 1 100.00 +ACAT1 0 genome.wustl.edu 37 11 108009744 108009744 + Silent SNP T T G TCGA-AB-2887-03A-01W-0732-08 TCGA-AB-2887-11A-01W-0732-08 T T T G T T Verified Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq 1 dbGAP Illumina HiSeq 63b061fa-a51b-4160-8cf6-cb6d17bd5c5a 191233e7-e123-4253-922e-983ab11690b8 11 107514954 107514954 T G SNP ACAT1 NM_000019.3 human genbank 54_36p +1 reviewed silent c.555 p.T185 0.739 HMMPfam_Thiolase_N,superfamily_Thiolase-like HMMPfam_Thiolase_N,HMMPfam_Thiolase_C,PatternScan_THIOLASE_1,PatternScan_THIOLASE_3,PatternScan_THIOLASE_2,superfamily_Thiolase-like - no_errors 98 7 6.60 53 51 49.04 62 42 40.38 +FGD6 0 genome.wustl.edu 37 12 95603880 95603880 + Missense_Mutation SNP C C T TCGA-AB-2887-03A-01W-0732-08 TCGA-AB-2887-11A-01W-0732-08 C C C T C C Verified Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq 1 dbGAP Illumina HiSeq 63b061fa-a51b-4160-8cf6-cb6d17bd5c5a 191233e7-e123-4253-922e-983ab11690b8 12 94128011 94128011 C T SNP FGD6 NM_018351.3 human genbank 54_36p -1 validated missense c.1180 p.A394T 0.000 NULL HMMPfam_RhoGEF,HMMSmart_SM00325,superfamily_DBL homology domain (DH-domain),HMMPfam_FYVE,HMMSmart_SM00064,HMMPfam_PH,HMMSmart_SM00233,superfamily_FYVE/PHD zinc finger,PatternScan_C_TYPE_LECTIN_1,superfamily_PH domain-like - no_errors 94 15 13.64 85 63 42.57 4 4 50.00 +BDKRB2 0 genome.wustl.edu 37 14 96707223 96707223 + Silent SNP G G A TCGA-AB-2887-03A-01W-0732-08 TCGA-AB-2887-11A-01W-0732-08 G G G A G G Verified Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq 1 dbGAP Illumina HiSeq 63b061fa-a51b-4160-8cf6-cb6d17bd5c5a 191233e7-e123-4253-922e-983ab11690b8 14 95776976 95776976 G A SNP BDKRB2 NM_000623.3 human genbank 54_36p +1 reviewed silent c.558 p.L186 0.046 HMMPfam_7tm_1,superfamily_Family A G protein-coupled receptor-like HMMPfam_7tm_1,PatternScan_G_PROTEIN_RECEP_F1_1,superfamily_Family A G protein-coupled receptor-like - no_errors 21 1 4.55 14 25 62.50 NA NA NA +CES1P1 0 genome.wustl.edu 37 16 55801298 55801298 + RNA SNP G G A TCGA-AB-2887-03A-01W-0732-08 TCGA-AB-2887-11A-01W-0732-08 G G G A G G Verified Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq 1 dbGAP Illumina HiSeq 63b061fa-a51b-4160-8cf6-cb6d17bd5c5a 191233e7-e123-4253-922e-983ab11690b8 16 54358799 54358799 G A SNP CES4 NR_003276.2 human genbank 54_36p +1 validated rna NULL NULL 0.000 - - - pseudogene 98 9 8.33 76 62 44.93 NA NA NA +ABCC3 0 genome.wustl.edu 37 17 48760974 48760974 + Missense_Mutation SNP C C T TCGA-AB-2887-03A-01W-0732-08 TCGA-AB-2887-11A-01W-0732-08 C C C T C C Verified Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq 1 dbGAP Illumina HiSeq 63b061fa-a51b-4160-8cf6-cb6d17bd5c5a 191233e7-e123-4253-922e-983ab11690b8 17 46115973 46115973 C T SNP ABCC3 NM_003786.1 human genbank 54_36p +1 reviewed missense c.3811 p.P1271S 1.000 superfamily_Multidrug resistance ABC transporter MsbA N-terminal domain HMMPfam_ABC_membrane,HMMPfam_ABC_tran,HMMSmart_SM00382,superfamily_Multidrug resistance ABC transporter MsbA N-terminal domain,PatternScan_ABC_TRANSPORTER_1,superfamily_P-loop containing nucleoside triphosphate hydrolases - no_errors 95 9 8.65 17 22 56.41 NA NA NA +CYP4F2 0 genome.wustl.edu 37 19 16000324 16000324 + Missense_Mutation SNP C C T TCGA-AB-2887-03A-01W-0732-08 TCGA-AB-2887-11A-01W-0732-08 C C C T C C Verified Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq 1 dbGAP Illumina HiSeq 63b061fa-a51b-4160-8cf6-cb6d17bd5c5a 191233e7-e123-4253-922e-983ab11690b8 19 15861324 15861324 C T SNP CYP4F2 NM_001082.3 human genbank 54_36p -1 reviewed missense c.827 p.R276H 0.027 HMMPfam_p450,superfamily_Cytochrome_P450 HMMPfam_p450,superfamily_Cytochrome_P450,PatternScan_CYTOCHROME_P450 - no_errors 71 9 11.25 40 49 55.06 1 0 0.00 +FAM47B 0 genome.wustl.edu 37 X 34962508 34962508 + Silent SNP C C T TCGA-AB-2888-03A-01W-0732-08 TCGA-AB-2888-11A-01W-0732-08 C C C T C C Verified Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq 1 dbGAP Illumina HiSeq c0c5cc35-b82e-4843-abd2-59739c85097d 22b0fe6d-f07e-4e6c-b9c6-1a8d4c928685 X 34872429 34872429 C T SNP FAM47B NM_152631.1 human genbank 54_36p +1 predicted silent c.1560 p.V520 0.000 NULL NULL - no_errors 66 2 2.94 38 43 53.09 NA NA NA +HLA-B 0 genome.wustl.edu 37 6 31324917 31324917 + Missense_Mutation SNP G G C TCGA-AB-2888-03A-01W-0732-08 TCGA-AB-2888-11A-01W-0732-08 G G G C G G Verified Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq 1 dbGAP Illumina HiSeq c0c5cc35-b82e-4843-abd2-59739c85097d 22b0fe6d-f07e-4e6c-b9c6-1a8d4c928685 6 31432896 31432896 G C SNP HLA-B NM_005514.6 human genbank 54_36p -1 reviewed missense c.19 p.R7G 0.000 NULL HMMPfam_MHC_I,PatternScan_IG_MHC,HMMPfam_C1-set,HMMSmart_SM00407,HMMPfam_MHC_I_C,superfamily_MHC antigen-recognition domain,superfamily_Immunoglobulin - no_errors 60 0 0.00 48 15 23.44 1199 923 43.50 +ASB15 0 genome.wustl.edu 37 7 123269106 123269106 + Missense_Mutation SNP C C T TCGA-AB-2888-03A-01W-0732-08 TCGA-AB-2888-11A-01W-0732-08 C C C T C C Verified Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq 1 dbGAP Illumina HiSeq c0c5cc35-b82e-4843-abd2-59739c85097d 22b0fe6d-f07e-4e6c-b9c6-1a8d4c928685 7 123056342 123056342 C T SNP ASB15 NM_080928.3 human genbank 54_36p +1 validated missense c.1058 p.A353V 0.997 HMMPfam_Ank,HMMSmart_SM00248,superfamily_Ankyrin repeat HMMPfam_SOCS_box,HMMSmart_SM00253,HMMPfam_Ank,HMMSmart_SM00248,superfamily_Ankyrin repeat - no_errors 111 1 0.89 79 37 31.62 NA NA NA +CPNE3 0 genome.wustl.edu 37 8 87557034 87557034 + Missense_Mutation SNP A A G TCGA-AB-2888-03A-01W-0732-08 TCGA-AB-2888-11A-01W-0732-08 A A A G A A Verified Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq 1 dbGAP Illumina HiSeq c0c5cc35-b82e-4843-abd2-59739c85097d 22b0fe6d-f07e-4e6c-b9c6-1a8d4c928685 8 87626150 87626150 A G SNP CPNE3 NM_003909.3 human genbank 54_36p +1 reviewed missense c.700 p.T234A 1.000 HMMSmart_C2,superfamily_C2_CaLB HMMPfam_C2,HMMSmart_C2,HMMSmart_VWA,superfamily_C2_CaLB,HMMPfam_Copine,superfamily_SSF53300 - no_errors 117 1 0.85 66 25 27.47 42 26 38.24 +BRMS1 0 genome.wustl.edu 37 11 66108791 66108791 + Nonsense_Mutation SNP G G A TCGA-AB-2888-03A-01W-0732-08 TCGA-AB-2888-11A-01W-0732-08 G G G A G G Verified Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq 1 dbGAP Illumina HiSeq c0c5cc35-b82e-4843-abd2-59739c85097d 22b0fe6d-f07e-4e6c-b9c6-1a8d4c928685 11 65865367 65865367 G A SNP BRMS1 NM_001024957.1 human genbank 54_36p -1 reviewed nonsense c.244 p.R82* 1.000 HMMPfam_Sds3 HMMPfam_Sds3 - no_errors 54 0 0.00 34 10 22.73 31 6 16.22 +DDX23 0 genome.wustl.edu 37 12 49239405 49239405 + Missense_Mutation SNP C C T TCGA-AB-2888-03A-01W-0732-08 TCGA-AB-2888-11A-01W-0732-08 C C C T C C Verified Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq 1 dbGAP Illumina HiSeq c0c5cc35-b82e-4843-abd2-59739c85097d 22b0fe6d-f07e-4e6c-b9c6-1a8d4c928685 12 47525672 47525672 C T SNP DDX23 NM_004818.2 human genbank 54_36p -1 reviewed missense c.161 p.R54Q 0.853 NULL PatternScan_DEAD_ATP_HELICASE,HMMPfam_Helicase_C,HMMSmart_SM00490,HMMPfam_DEAD,HMMSmart_SM00487,superfamily_P-loop containing nucleoside triphosphate hydrolases - no_errors 74 1 1.32 39 16 29.09 52 35 40.23 +GPR183 0 genome.wustl.edu 37 13 99947482 99947482 + Silent SNP A A G TCGA-AB-2888-03A-01W-0732-08 TCGA-AB-2888-11A-01W-0732-08 A A A G A A Verified Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq 1 dbGAP Illumina HiSeq c0c5cc35-b82e-4843-abd2-59739c85097d 22b0fe6d-f07e-4e6c-b9c6-1a8d4c928685 13 98745483 98745483 A G SNP GPR183 NM_004951.4 human genbank 54_36p -1 reviewed silent c.918 p.F306 0.972 HMMPfam_7tm_1,superfamily_SSF81321 HMMPfam_7tm_1,PatternScan_G_PROTEIN_RECEP_F1_1,superfamily_SSF81321 - no_errors 124 1 0.79 78 33 29.73 584 532 47.63 +LOC388076 0 genome.wustl.edu 37 15 22440508 22440508 + Silent SNP G G A TCGA-AB-2888-03A-01W-0732-08 TCGA-AB-2888-11A-01W-0732-08 G G G A G G Verified Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq 1 dbGAP Illumina HiSeq c0c5cc35-b82e-4843-abd2-59739c85097d 22b0fe6d-f07e-4e6c-b9c6-1a8d4c928685 15 19941872 19941872 G A SNP LOC388076 XM_931016.1 human genbank 54_36p -1 model silent c.339 p.Y113 1.000 HMMPfam_Ribosomal_S8e HMMPfam_Ribosomal_S8e - pseudogene 190 0 0.00 123 42 25.30 745 0 0.00 +KIT 0 genome.wustl.edu 37 4 55589771 55589772 + In_Frame_Ins INS - - CTTCTT TCGA-AB-2888-03A-01W-0732-08 TCGA-AB-2888-11A-01W-0732-08 - - - CTTCTT - - Verified Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq 1 dbGAP Illumina HiSeq c0c5cc35-b82e-4843-abd2-59739c85097d 22b0fe6d-f07e-4e6c-b9c6-1a8d4c928685 4 55284528 55284529 - CTTCTT INS KIT NM_000222.2 human genbank 54_36p +1 reviewed in_frame_ins c.1253_1254 p.419in_frame_insFF 0.002:0.002 NULL HMMPfam_Pkinase_Tyr,HMMSmart_TyrKc,PatternScan_RECEPTOR_TYR_KIN_III,HMMSmart_IGc2,HMMSmart_IG,PatternScan_PROTEIN_KINASE_TYR,superfamily_Kinase_like,HMMPfam_ig,PatternScan_PROTEIN_KINASE_ATP,superfamily_SSF48726 - no_errors NA NA NA NA NA NA NA NA NA +ARHGAP18 0 genome.wustl.edu 37 6 129950550 129950553 + Frame_Shift_Del DEL TCTT TCTT - TCGA-AB-2888-03A-01W-0732-08 TCGA-AB-2888-11A-01W-0732-08 TCTT TCTT TCTT - TCTT TCTT Verified Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq 1 dbGAP Illumina HiSeq c0c5cc35-b82e-4843-abd2-59739c85097d 22b0fe6d-f07e-4e6c-b9c6-1a8d4c928685 6 129992243 129992246 TCTT - DEL ARHGAP18 NM_033515.2 human genbank 54_36p -1 validated frame_shift_del c.734_731 p.K244fs 0.979:0.998:1.000:1.000 NULL HMMPfam_RhoGAP,HMMSmart_SM00324,superfamily_GTPase activation domain GAP - no_errors NA NA NA NA NA NA NA NA NA +MXRA5 0 genome.wustl.edu 37 X 3241845 3241845 + Missense_Mutation SNP A A C TCGA-AB-2889-03A-01W-0732-08 TCGA-AB-2889-11A-01W-0761-09 A A A C A A Verified Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq 1 dbGAP Illumina HiSeq 776282ec-8391-4382-8ba7-793058092bbe cfbe10b5-e46e-4d4a-adb7-a4b4d7099fac X 3251845 3251845 A C SNP MXRA5 NM_015419.3 human genbank 54_36p -1 validated missense c.1881 p.H627Q 0.006 HMMSmart_SM00408,HMMSmart_SM00409,HMMPfam_ig,superfamily_Immunoglobulin HMMSmart_SM00013,HMMSmart_SM00082,HMMPfam_LRR_1,HMMSmart_SM00369,HMMSmart_SM00408,HMMSmart_SM00409,HMMPfam_I-set,HMMPfam_ig,superfamily_Immunoglobulin,superfamily_L domain-like - no_errors 125 5 3.85 1 81 97.59 NA NA NA +ANK2 0 genome.wustl.edu 37 4 114275765 114275765 + Silent SNP C C T TCGA-AB-2889-03A-01W-0732-08 TCGA-AB-2889-11A-01W-0761-09 C C C T C C Verified Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq 1 dbGAP Illumina HiSeq 776282ec-8391-4382-8ba7-793058092bbe cfbe10b5-e46e-4d4a-adb7-a4b4d7099fac 4 114495214 114495214 C T SNP ANK2 NM_001148.1 human genbank 54_36p +1 reviewed silent c.5991 p.F1997 1.000 NULL HMMPfam_Death,HMMSmart_DEATH,HMMPfam_ZU5,HMMPfam_Ank,HMMSmart_ANK,superfamily_ANK,superfamily_DEATH_like,PatternScan_ALDEHYDE_DEHYDR_GLU - no_errors 214 7 3.17 65 63 49.22 NA NA NA +PCSK5 0 genome.wustl.edu 37 9 78938041 78938041 + Silent SNP G G T TCGA-AB-2889-03A-01W-0732-08 TCGA-AB-2889-11A-01W-0761-09 G G G T G G Verified Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq 1 dbGAP Illumina HiSeq 776282ec-8391-4382-8ba7-793058092bbe cfbe10b5-e46e-4d4a-adb7-a4b4d7099fac 9 78127861 78127861 G T SNP PCSK5 ENST00000376754 human ensembl 54_36p +1 known silent c.3285 p.S1095 0.000 HMMSmart_SM00261,superfamily_Growth factor receptor domain HMMPfam_Peptidase_S8,PatternScan_SUBTILASE_SER,superfamily_Subtilisin-like,HMMPfam_P_proprotein,HMMSmart_SM00181,HMMSmart_SM00261,superfamily_Galactose-binding domain-like,superfamily_Growth factor receptor domain - no_errors 132 7 5.04 53 49 48.04 NA NA NA +ATRNL1 0 genome.wustl.edu 37 10 117486792 117486792 + Missense_Mutation SNP G G A TCGA-AB-2889-03A-01W-0732-08 TCGA-AB-2889-11A-01W-0761-09 G G G A G G Verified Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq 1 dbGAP Illumina HiSeq 776282ec-8391-4382-8ba7-793058092bbe cfbe10b5-e46e-4d4a-adb7-a4b4d7099fac 10 117476782 117476782 G A SNP ATRNL1 NM_207303.2 human genbank 54_36p +1 validated missense c.3830 p.R1277H 1.000 NULL HMMPfam_CUB,HMMSmart_SM00042,superfamily_Spermadhesin CUB domain,HMMPfam_Lectin_C,HMMSmart_SM00034,HMMPfam_Laminin_EGF,HMMSmart_SM00180,PatternScan_EGF_LAM_1,HMMPfam_PSI,HMMSmart_SM00423,HMMSmart_SM00181,HMMPfam_Kelch_1,superfamily_Galactose oxidase central domain,HMMPfam_Kelch_2,PatternScan_EGF_1,PatternScan_EGF_2,HMMPfam_EGF_2,superfamily_C-type lectin-like,superfamily_Plexin repeat,superfamily_EGF/Laminin - no_errors 96 5 4.95 56 35 38.04 NA NA NA +APBA2 0 genome.wustl.edu 37 15 29398977 29398977 + Silent SNP C C A TCGA-AB-2889-03A-01W-0732-08 TCGA-AB-2889-11A-01W-0761-09 C C C A C C Verified Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq 1 dbGAP Illumina HiSeq 776282ec-8391-4382-8ba7-793058092bbe cfbe10b5-e46e-4d4a-adb7-a4b4d7099fac 15 27186269 27186269 C A SNP APBA2 NM_005503.1 human genbank 54_36p +1 reviewed silent c.1872 p.T624 1.000 HMMPfam_PDZ,HMMSmart_PDZ,superfamily_PDZ HMMPfam_PDZ,HMMSmart_PDZ,superfamily_PDZ,HMMPfam_PID,HMMSmart_PTB,superfamily_SSF50729 - no_errors 27 2 6.90 13 9 40.91 1 0 0.00 +SALL1 0 genome.wustl.edu 37 16 51174459 51174459 + Silent SNP C C T TCGA-AB-2889-03A-01W-0732-08 TCGA-AB-2889-11A-01W-0761-09 C C C T C C Verified Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq 1 dbGAP Illumina HiSeq 776282ec-8391-4382-8ba7-793058092bbe cfbe10b5-e46e-4d4a-adb7-a4b4d7099fac 16 49731960 49731960 C T SNP SALL1 NM_002968.1 human genbank 54_36p -1 reviewed silent c.1674 p.P558 0.897 NULL HMMPfam_zf-C2H2,PatternScan_ZINC_FINGER_C2H2_1,HMMSmart_SM00355,superfamily_C2H2 and C2HC zinc fingers - no_errors 215 6 2.71 40 37 48.05 NA NA NA +TCEAL3 0 genome.wustl.edu 37 X 102864442 102864442 + Silent SNP A A G TCGA-AB-2890-03A-01W-0732-08 TCGA-AB-2890-11A-01W-0732-08 A A A G A A Verified Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq 1 dbGAP Illumina HiSeq 63fe7f58-796e-4cf8-bc6e-957e1e0f091b 762a8778-551f-476e-b434-faf19a65f6de X 102751098 102751098 A G SNP TCEAL3 NM_001006933.1 human genbank 54_36p +1 reviewed silent c.450 p.Q150 1.000 HMMPfam_TFA HMMPfam_TFA - no_errors 128 4 3.03 189 38 16.67 4 0 0.00 +CNOT6L 0 genome.wustl.edu 37 4 78647521 78647521 + Missense_Mutation SNP C C T TCGA-AB-2890-03A-01W-0732-08 TCGA-AB-2890-11A-01W-0732-08 C C C T C C Verified Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq 1 dbGAP Illumina HiSeq 63fe7f58-796e-4cf8-bc6e-957e1e0f091b 762a8778-551f-476e-b434-faf19a65f6de 4 78866545 78866545 C T SNP CNOT6L NM_144571.2 human genbank 54_36p -1 validated missense c.1255 p.V419I 1.000 HMMPfam_Exo_endo_phos,superfamily_DNase I-like HMMPfam_LRR_1,HMMSmart_SM00369,HMMPfam_Exo_endo_phos,superfamily_DNase I-like,superfamily_L domain-like - no_errors 72 3 3.95 87 38 30.40 8 3 27.27 +EGFLAM 0 genome.wustl.edu 37 5 38451544 38451544 + Missense_Mutation SNP G G A TCGA-AB-2890-03A-01W-0732-08 TCGA-AB-2890-11A-01W-0732-08 G G G A G G Verified Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq 1 dbGAP Illumina HiSeq 63fe7f58-796e-4cf8-bc6e-957e1e0f091b 762a8778-551f-476e-b434-faf19a65f6de 5 38487301 38487301 G A SNP EGFLAM NM_152403.2 human genbank 54_36p +1 validated missense c.2671 p.G891R 1.000 HMMSmart_LamG,superfamily_ConA_like_lec_gl,HMMPfam_Laminin_G_2 HMMSmart_LamG,HMMPfam_fn3,HMMSmart_FN3,HMMPfam_EGF,HMMSmart_EGF,superfamily_FN_III-like,superfamily_ConA_like_lec_gl,HMMPfam_Laminin_G_1,HMMPfam_Laminin_G_2,PatternScan_EGF_1,PatternScan_EGF_2 - no_errors 89 3 3.19 76 33 30.28 NA NA NA +PTPRD 0 genome.wustl.edu 37 9 8376658 8376658 + Silent SNP A A G TCGA-AB-2890-03A-01W-0732-08 TCGA-AB-2890-11A-01W-0732-08 A A A G A A Verified Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq 1 dbGAP Illumina HiSeq 63fe7f58-796e-4cf8-bc6e-957e1e0f091b 762a8778-551f-476e-b434-faf19a65f6de 9 8366658 8366658 A G SNP PTPRD NM_002839.1 human genbank 54_36p -1 reviewed silent c.4455 p.L1485 0.168 HMMPfam_Y_phosphatase,HMMSmart_SM00194,superfamily_(Phosphotyrosine protein) phosphatases II HMMPfam_Y_phosphatase,HMMSmart_SM00194,HMMSmart_SM00404,HMMSmart_SM00408,HMMSmart_SM00409,HMMPfam_fn3,HMMSmart_SM00060,superfamily_Fibronectin type III,HMMPfam_I-set,HMMPfam_ig,PatternScan_TYR_PHOSPHATASE_1,superfamily_Immunoglobulin,superfamily_(Phosphotyrosine protein) phosphatases II - no_errors 104 5 4.50 112 102 47.66 NA NA NA +LRIT1 0 genome.wustl.edu 37 10 85991750 85991750 + Missense_Mutation SNP C C T TCGA-AB-2890-03A-01W-0732-08 TCGA-AB-2890-11A-01W-0732-08 C C C T C C Verified Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq 1 dbGAP Illumina HiSeq 63fe7f58-796e-4cf8-bc6e-957e1e0f091b 762a8778-551f-476e-b434-faf19a65f6de 10 85981730 85981730 C T SNP LRIT1 NM_015613.2 human genbank 54_36p -1 validated missense c.1805 p.R602H 0.670 NULL HMMSmart_LRRNT,HMMSmart_LRRCT,HMMPfam_LRR_1,HMMSmart_LRR_TYP,HMMSmart_IGc2,HMMPfam_fn3,HMMSmart_FN3,superfamily_FN_III-like,HMMPfam_ig,superfamily_SSF48726,superfamily_SSF52058 - no_errors 22 0 0.00 32 11 25.58 NA NA NA +CYP4F12 0 genome.wustl.edu 37 19 15794469 15794469 + Missense_Mutation SNP C C T TCGA-AB-2890-03A-01W-0732-08 TCGA-AB-2890-11A-01W-0732-08 C C C T C C Verified Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq 1 dbGAP Illumina HiSeq 63fe7f58-796e-4cf8-bc6e-957e1e0f091b 762a8778-551f-476e-b434-faf19a65f6de 19 15655469 15655469 C T SNP CYP4F12 NM_023944.2 human genbank 54_36p +1 reviewed missense c.814 p.R272W 1.000 HMMPfam_p450,superfamily_Cytochrome P450 HMMPfam_p450,superfamily_Cytochrome P450,PatternScan_CYTOCHROME_P450 - no_errors 87 5 5.38 46 18 28.12 NA NA NA +ADNP 0 genome.wustl.edu 37 20 49509105 49509105 + Missense_Mutation SNP T T G TCGA-AB-2890-03A-01W-0732-08 TCGA-AB-2890-11A-01W-0732-08 T T T G T T Verified Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq 1 dbGAP Illumina HiSeq 63fe7f58-796e-4cf8-bc6e-957e1e0f091b 762a8778-551f-476e-b434-faf19a65f6de 20 48942512 48942512 T G SNP ADNP NM_015339.2 human genbank 54_36p -1 reviewed missense c.2146 p.K716Q 1.000 NULL HMMPfam_Homeobox,HMMSmart_HOX,HMMPfam_zf-C2H2,PatternScan_ZINC_FINGER_C2H2_1,superfamily_Homeodomain_like,HMMSmart_ZnF_C2H2,PatternScan_HOMEOBOX_1 - no_errors 45 3 6.25 71 42 37.17 47 38 44.71 +RUNX1 0 genome.wustl.edu 37 21 36231783 36231783 + Nonsense_Mutation SNP G G A TCGA-AB-2890-03A-01W-0732-08 TCGA-AB-2890-11A-01W-0732-08 G G G A G G Verified Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq 1 dbGAP Illumina HiSeq 63fe7f58-796e-4cf8-bc6e-957e1e0f091b 762a8778-551f-476e-b434-faf19a65f6de 21 35153653 35153653 G A SNP RUNX1 NM_001754.2 human genbank 54_36p -1 reviewed nonsense c.601 p.R201* 1.000 superfamily_p53-like transcription factors,HMMPfam_Runt superfamily_p53-like transcription factors,HMMPfam_Runt,HMMPfam_RunxI - no_errors 84 1 1.18 57 18 24.00 412 244 37.14 +TBC1D10A 0 genome.wustl.edu 37 22 30691731 30691732 + Frame_Shift_Ins INS - - C TCGA-AB-2890-03A-01W-0732-08 TCGA-AB-2890-11A-01W-0732-08 - - - C - - Verified Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq 1 dbGAP Illumina HiSeq 63fe7f58-796e-4cf8-bc6e-957e1e0f091b 762a8778-551f-476e-b434-faf19a65f6de 22 29021731 29021732 - C INS TBC1D10A NM_031937.1 human genbank 54_36p -1 provisional frame_shift_ins c.519_518 p.H174fs 0.995:1.000 HMMPfam_TBC,HMMSmart_SM00164,superfamily_Ypt/Rab-GAP domain of gyp1p HMMPfam_TBC,HMMSmart_SM00164,superfamily_Ypt/Rab-GAP domain of gyp1p - no_errors 16 0 0.00 32 4 11.11 14 0 0.00 +RIPPLY1 0 genome.wustl.edu 37 X 106145381 106145381 + Silent SNP G G A TCGA-AB-2891-03A-01W-0733-08 TCGA-AB-2891-11A-01W-0732-08 G G G A G G Verified Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq 1 dbGAP Illumina HiSeq 28b7dbc1-ed11-48c8-965f-460700b005d3 c23c8e94-494f-402f-a61e-c38bb20ec809 X 106032037 106032037 G A SNP RIPPLY1 NM_138382.1 human genbank 54_36p -1 provisional silent c.220 p.L74 0.000 NULL NULL - no_errors 124 6 4.62 40 98 69.50 NA NA NA +EPHA10 0 genome.wustl.edu 37 1 38186502 38186502 + Missense_Mutation SNP T T C TCGA-AB-2891-03A-01W-0733-08 TCGA-AB-2891-11A-01W-0732-08 T T T C T T Verified Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq 1 dbGAP Illumina HiSeq 28b7dbc1-ed11-48c8-965f-460700b005d3 c23c8e94-494f-402f-a61e-c38bb20ec809 1 37959089 37959089 T C SNP EPHA10 NM_001099439.1 human genbank 54_36p -1 validated missense c.2161 p.I721V 1.000 HMMPfam_Pkinase_Tyr,HMMSmart_SM00219,HMMSmart_SM00220,superfamily_Protein kinase-like (PK-like) HMMPfam_Ephrin_lbd,HMMSmart_SM00615,HMMPfam_Pkinase_Tyr,HMMSmart_SM00219,PatternScan_RECEPTOR_TYR_KIN_V_1,PatternScan_RECEPTOR_TYR_KIN_V_2,HMMPfam_SAM_1,HMMSmart_SM00454,HMMSmart_SM00220,HMMPfam_fn3,HMMSmart_SM00060,superfamily_Fibronectin type III,superfamily_Galactose-binding domain-like,superfamily_SAM/Pointed domain,superfamily_Protein kinase-like (PK-like),PatternScan_EGF_2 - no_errors 164 3 1.79 61 43 41.35 NA NA NA +DNMT3A 0 genome.wustl.edu 37 2 25463307 25463307 + Missense_Mutation SNP C C T TCGA-AB-2891-03A-01W-0733-08 TCGA-AB-2891-11A-01W-0732-08 C C C T C C Verified Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq 1 dbGAP Illumina HiSeq 28b7dbc1-ed11-48c8-965f-460700b005d3 c23c8e94-494f-402f-a61e-c38bb20ec809 2 25316811 25316811 C T SNP DNMT3A NM_022552.3 human genbank 54_36p -1 reviewed missense c.2186 p.R729Q 1.000 HMMPfam_DNA_methylase,superfamily_S-adenosyl-L-methionine-dependent methyltransferases HMMPfam_PWWP,HMMSmart_SM00293,HMMPfam_DNA_methylase,superfamily_FYVE/PHD zinc finger,PatternScan_C5_MTASE_1,superfamily_S-adenosyl-L-methionine-dependent methyltransferases,superfamily_Tudor/PWWP/MBT - no_errors 77 2 2.53 34 32 48.48 19 15 44.12 +DNMT3A 0 genome.wustl.edu 37 2 25467022 25467022 + Splice_Site SNP A A G TCGA-AB-2891-03A-01W-0733-08 TCGA-AB-2891-11A-01W-0732-08 A A A G A A Verified Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq 1 dbGAP Illumina HiSeq 28b7dbc1-ed11-48c8-965f-460700b005d3 c23c8e94-494f-402f-a61e-c38bb20ec809 2 25320526 25320526 A G SNP DNMT3A NM_022552.3 human genbank 54_36p -1 reviewed splice_site c.1851+2 e14+2 1.000 - - - no_errors 55 3 5.17 44 24 34.78 0 7 100.00 +BSN 0 genome.wustl.edu 37 3 49701907 49701907 + Missense_Mutation SNP A A G TCGA-AB-2891-03A-01W-0733-08 TCGA-AB-2891-11A-01W-0732-08 A A A G A A Verified Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq 1 dbGAP Illumina HiSeq 28b7dbc1-ed11-48c8-965f-460700b005d3 c23c8e94-494f-402f-a61e-c38bb20ec809 3 49676911 49676911 A G SNP BSN NM_003458.3 human genbank 54_36p +1 validated missense c.11660 p.Q3887R 1.000 NULL HMMPfam_zf-piccolo,superfamily_FYVE_PHD_ZnF - no_errors 52 2 3.70 43 19 30.16 NA NA NA +GABRB1 0 genome.wustl.edu 37 4 47405449 47405449 + Missense_Mutation SNP C C T TCGA-AB-2891-03A-01W-0733-08 TCGA-AB-2891-11A-01W-0732-08 C C C T C C Verified Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq 1 dbGAP Illumina HiSeq 28b7dbc1-ed11-48c8-965f-460700b005d3 c23c8e94-494f-402f-a61e-c38bb20ec809 4 47100206 47100206 C T SNP GABRB1 NM_000812.3 human genbank 54_36p +1 reviewed missense c.659 p.S220F 1.000 HMMPfam_Neur_chan_LBD,superfamily_Neur_chan_LBD HMMPfam_Neur_chan_memb,superfamily_Neu_channel_TM,HMMPfam_Neur_chan_LBD,superfamily_Neur_chan_LBD,PatternScan_NEUROTR_ION_CHANNEL - no_errors 447 16 3.40 146 69 31.36 0 1 100.00 +CUL9 0 genome.wustl.edu 37 6 43166449 43166449 + Missense_Mutation SNP G G A TCGA-AB-2891-03A-01W-0733-08 TCGA-AB-2891-11A-01W-0732-08 G G G A G G Verified Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq 1 dbGAP Illumina HiSeq 28b7dbc1-ed11-48c8-965f-460700b005d3 c23c8e94-494f-402f-a61e-c38bb20ec809 6 43274427 43274427 G A SNP CUL9 NM_015089.2 human genbank 54_36p +1 validated missense c.2906 p.R969H 0.201 superfamily_ARM repeat HMMPfam_Cullin,HMMPfam_IBR,HMMSmart_SM00647,HMMPfam_APC10,superfamily_Galactose-binding domain-like,superfamily_ARM repeat,PatternScan_CULLIN_1,superfamily_Cullin homology domain,PatternScan_ZF_RING_1,PatternScan_CYTOCHROME_P450,superfamily_"Winged helix" DNA-binding domain,superfamily_RING/U-box - no_errors 361 11 2.96 116 93 44.50 31 21 40.38 +CCL21 0 genome.wustl.edu 37 9 34710059 34710059 + Missense_Mutation SNP G G A TCGA-AB-2891-03A-01W-0733-08 TCGA-AB-2891-11A-01W-0732-08 G G G A G G Verified Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq 1 dbGAP Illumina HiSeq 28b7dbc1-ed11-48c8-965f-460700b005d3 c23c8e94-494f-402f-a61e-c38bb20ec809 9 34700059 34700059 G A SNP CCL21 NM_002989.2 human genbank 54_36p -1 reviewed missense c.5 p.A2V 0.983 NULL HMMPfam_IL8,HMMSmart_SM00199,superfamily_Interleukin 8-like chemokines - no_errors 293 9 2.96 231 148 38.44 NA NA NA +FANCC 0 genome.wustl.edu 37 9 98011446 98011446 + Missense_Mutation SNP T T C TCGA-AB-2891-03A-01W-0733-08 TCGA-AB-2891-11A-01W-0732-08 T T T C T T Verified Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq 1 dbGAP Illumina HiSeq 28b7dbc1-ed11-48c8-965f-460700b005d3 c23c8e94-494f-402f-a61e-c38bb20ec809 9 97051267 97051267 T C SNP FANCC NM_000136.2 human genbank 54_36p -1 reviewed missense c.128 p.E43G 0.998 HMMPfam_Fanconi_C HMMPfam_Fanconi_C - no_errors 263 6 2.21 167 93 35.63 9 4 30.77 +AK8 0 genome.wustl.edu 37 9 135698683 135698683 + Silent SNP C C T TCGA-AB-2891-03A-01W-0733-08 TCGA-AB-2891-11A-01W-0732-08 C C C T C C Verified Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq 1 dbGAP Illumina HiSeq 28b7dbc1-ed11-48c8-965f-460700b005d3 c23c8e94-494f-402f-a61e-c38bb20ec809 9 134688504 134688504 C T SNP C9orf98 NM_152572.2 human genbank 54_36p -1 validated silent c.798 p.P266 0.982 superfamily_P-loop containing nucleoside triphosphate hydrolases HMMPfam_ADK,superfamily_Microbial and mitochondrial ADK insert "zinc finger" domain,superfamily_P-loop containing nucleoside triphosphate hydrolases - no_errors 189 6 3.00 144 64 30.48 NA NA NA +MAP6 0 genome.wustl.edu 37 11 75316878 75316878 + Missense_Mutation SNP T T A TCGA-AB-2891-03A-01W-0733-08 TCGA-AB-2891-11A-01W-0732-08 T T T A T T Verified Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq 1 dbGAP Illumina HiSeq 28b7dbc1-ed11-48c8-965f-460700b005d3 c23c8e94-494f-402f-a61e-c38bb20ec809 11 74994526 74994526 T A SNP MAP6 NM_033063.1 human genbank 54_36p -1 reviewed missense c.1291 p.N431Y 1.000 HMMPfam_STOP HMMPfam_STOP - no_errors 382 13 3.27 106 70 39.77 NA NA NA +C11orf70 0 genome.wustl.edu 37 11 101953911 101953911 + Missense_Mutation SNP G G A TCGA-AB-2891-03A-01W-0733-08 TCGA-AB-2891-11A-01W-0732-08 G G G A G G Verified Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq 1 dbGAP Illumina HiSeq 28b7dbc1-ed11-48c8-965f-460700b005d3 c23c8e94-494f-402f-a61e-c38bb20ec809 11 101459121 101459121 G A SNP C11orf70 NM_032930.1 human genbank 54_36p +1 predicted missense c.671 p.G224D 1.000 NULL NULL - no_errors 243 6 2.39 65 41 38.68 NA NA NA +ETV6 0 genome.wustl.edu 37 12 12038959 12038959 + Missense_Mutation SNP A A G TCGA-AB-2891-03A-01W-0733-08 TCGA-AB-2891-11A-01W-0732-08 A A A G A A Verified Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq 1 dbGAP Illumina HiSeq 28b7dbc1-ed11-48c8-965f-460700b005d3 c23c8e94-494f-402f-a61e-c38bb20ec809 12 11930226 11930226 A G SNP ETV6 NM_001987.4 human genbank 54_36p +1 reviewed missense c.1252 p.R418G 1.000 HMMPfam_Ets,HMMSmart_SM00413,superfamily_"Winged helix" DNA-binding domain HMMPfam_Ets,HMMSmart_SM00413,PatternScan_ETS_DOMAIN_2,HMMPfam_SAM_PNT,HMMSmart_SM00251,superfamily_SAM/Pointed domain,superfamily_"Winged helix" DNA-binding domain - no_errors 255 16 5.84 55 67 54.47 2 40 95.24 +CLPX 0 genome.wustl.edu 37 15 65456447 65456447 + Missense_Mutation SNP T T C TCGA-AB-2891-03A-01W-0733-08 TCGA-AB-2891-11A-01W-0732-08 T T T C T T Verified Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq 1 dbGAP Illumina HiSeq 28b7dbc1-ed11-48c8-965f-460700b005d3 c23c8e94-494f-402f-a61e-c38bb20ec809 15 63243500 63243500 T C SNP CLPX NM_006660.3 human genbank 54_36p -1 provisional missense c.593 p.Y198C 1.000 superfamily_P-loop containing nucleoside triphosphate hydrolases HMMSmart_SM00382,HMMPfam_AAA_2,HMMPfam_ClpB_D2-small,superfamily_P-loop containing nucleoside triphosphate hydrolases - no_errors 172 6 3.33 77 41 34.75 23 36 61.02 +IDH2 0 genome.wustl.edu 37 15 90631934 90631934 + Missense_Mutation SNP C C T rs121913502 TCGA-AB-2891-03A-01W-0733-08 TCGA-AB-2891-11A-01W-0732-08 C C C T C C Verified Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq 1 dbGAP Illumina HiSeq 28b7dbc1-ed11-48c8-965f-460700b005d3 c23c8e94-494f-402f-a61e-c38bb20ec809 15 88432938 88432938 C T SNP IDH2 NM_002168.2 human genbank 54_36p -1 reviewed missense c.419 p.R140Q 1.000 HMMPfam_Iso_dh,superfamily_Isocitrate/Isopropylmalate dehydrogenase-like HMMPfam_Iso_dh,PatternScan_IDH_IMDH,superfamily_Isocitrate/Isopropylmalate dehydrogenase-like - no_errors 180 8 4.23 78 61 43.88 220 203 47.99 +PDCD2L 0 genome.wustl.edu 37 19 34900370 34900370 + Missense_Mutation SNP A A G TCGA-AB-2891-03A-01W-0733-08 TCGA-AB-2891-11A-01W-0732-08 A A A G A A Verified Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq 1 dbGAP Illumina HiSeq 28b7dbc1-ed11-48c8-965f-460700b005d3 c23c8e94-494f-402f-a61e-c38bb20ec809 19 39592210 39592210 A G SNP PDCD2L NM_032346.1 human genbank 54_36p +1 provisional missense c.641 p.Y214C 0.998 HMMPfam_PDCD2_C HMMPfam_PDCD2_C - no_errors 549 23 3.97 107 85 44.04 2 0 0.00 +NRAS 0 genome.wustl.edu 37 1 115256530 115256530 + Missense_Mutation SNP G G T rs121913254 TCGA-AB-2892-03A-01W-0733-08 TCGA-AB-2892-11A-01W-0732-08 G G G T G G Verified Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq 1 dbGAP Illumina HiSeq 6ba13e42-8f8e-4b8d-940f-1535edc0d085 b128671d-2d7f-49c2-ba7b-9c2afb59f7a6 1 115058053 115058053 G T SNP NRAS NM_002524.3 human genbank 54_36p -1 reviewed missense c.181 p.Q61K 1.000 HMMSmart_SM00173,HMMSmart_SM00174,HMMSmart_SM00175,HMMPfam_Ras,superfamily_P-loop containing nucleoside triphosphate hydrolases HMMSmart_SM00173,HMMSmart_SM00174,HMMSmart_SM00175,HMMPfam_Ras,superfamily_P-loop containing nucleoside triphosphate hydrolases - no_errors 9 3 25.00 188 92 32.86 30 10 25.00 +DDX11 0 genome.wustl.edu 37 12 31242869 31242869 + Silent SNP G G A TCGA-AB-2892-03A-01W-0733-08 TCGA-AB-2892-11A-01W-0732-08 G G G A G G Verified Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq 1 dbGAP Illumina HiSeq 6ba13e42-8f8e-4b8d-940f-1535edc0d085 b128671d-2d7f-49c2-ba7b-9c2afb59f7a6 12 31134136 31134136 G A SNP DDX11 NM_152438.2 human genbank 54_36p +1 reviewed silent c.930 p.E310 0.981 HMMSmart_SM00488,HMMPfam_DEAD_2,superfamily_P-loop containing nucleoside triphosphate hydrolases HMMSmart_SM00488,HMMSmart_SM00491,HMMPfam_DEAD_2,superfamily_P-loop containing nucleoside triphosphate hydrolases - no_errors 25 0 0.00 69 11 13.75 18 1 5.26 +EPB41L3 0 genome.wustl.edu 37 18 5415927 5415928 + Frame_Shift_Ins INS - - A TCGA-AB-2892-03A-01W-0733-08 TCGA-AB-2892-11A-01W-0732-08 - - - A - - Verified Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq 1 dbGAP Illumina HiSeq 6ba13e42-8f8e-4b8d-940f-1535edc0d085 b128671d-2d7f-49c2-ba7b-9c2afb59f7a6 18 5405927 5405928 - A INS EPB41L3 NM_012307.2 human genbank 54_36p -1 provisional frame_shift_ins c.1957_1956 p.A652fs 1.000:0.993 NULL HMMPfam_SAB,HMMPfam_4_1_CTD,HMMPfam_FA,HMMPfam_FERM_N,HMMPfam_FERM_C,PatternScan_FERM_1,PatternScan_FERM_2,HMMPfam_FERM_M,superfamily_Second domain of FERM,HMMSmart_SM00295,superfamily_PH domain-like,superfamily_Ubiquitin-like - no_errors 0 0 0.00 2 0 0.00 0 0 0.00 +LOC387770 0 genome.wustl.edu 37 11 49865823 49865823 + RNA SNP G G A TCGA-AB-2893-03A-01W-0733-08 TCGA-AB-2893-11A-01W-0732-08 G G G A G G Verified Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq 1 dbGAP Illumina HiSeq 5030a804-2a0d-4a4e-94ad-b28609d12c5c b425d3f9-e1b8-4422-b805-0d11386047ae 11 49822399 49822399 G A SNP LOC387770 XR_017307.2 human genbank 54_36p -1 model rna NULL NULL 0.515 - - - pseudogene 220 32 12.60 52 32 38.10 NA NA NA +OR4H12P 0 genome.wustl.edu 37 14 20228350 20228350 + Silent SNP T T G TCGA-AB-2893-03A-01W-0733-08 TCGA-AB-2893-11A-01W-0732-08 T T T G T T Verified Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq 1 dbGAP Illumina HiSeq 5030a804-2a0d-4a4e-94ad-b28609d12c5c b425d3f9-e1b8-4422-b805-0d11386047ae 14 19298190 19298190 T G SNP OR4H12P ENST00000316004 human ensembl 54_36p +1 known silent c.282 p.T94 0.004 HMMPfam_7tm_1,PatternScan_G_PROTEIN_RECEP_F1_1,superfamily_SSF81321 HMMPfam_7tm_1,PatternScan_G_PROTEIN_RECEP_F1_1,superfamily_SSF81321 - no_errors 281 19 6.33 155 41 20.81 NA NA NA +KANSL1L 0 genome.wustl.edu 37 2 210940456 210940456 + Silent SNP C C G TCGA-AB-2894-03A-01W-0733-08 TCGA-AB-2894-11A-01W-0732-08 C C C G C C Verified Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq 1 dbGAP Illumina HiSeq ac7f533d-3f28-49c8-9548-fd7d3d86a42a 243cf7ad-c094-494c-9fee-0523176d3079 2 210648701 210648701 C G SNP C2orf67 NM_152519.2 human genbank 54_36p -1 validated silent c.1575 p.L525 0.998 NULL NULL - no_errors 217 8 3.56 67 34 33.66 4 11 73.33 +PCDHA6 0 genome.wustl.edu 37 5 140208675 140208675 + Silent SNP T T C TCGA-AB-2894-03A-01W-0733-08 TCGA-AB-2894-11A-01W-0732-08 T T T C T T Verified Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq 1 dbGAP Illumina HiSeq ac7f533d-3f28-49c8-9548-fd7d3d86a42a 243cf7ad-c094-494c-9fee-0523176d3079 5 140188859 140188859 T C SNP PCDHA6 NM_018909.2 human genbank 54_36p +1 reviewed silent c.999 p.H333 1.000 HMMPfam_Cadherin,HMMSmart_SM00112,superfamily_Cadherin-like HMMPfam_Cadherin,HMMSmart_SM00112,PatternScan_CADHERIN_1,HMMPfam_Cadherin_2,superfamily_Cadherin-like - no_errors 36 1 2.70 11 10 47.62 NA NA NA +CRISPLD1 0 genome.wustl.edu 37 8 75928854 75928854 + Missense_Mutation SNP G G A TCGA-AB-2894-03A-01W-0733-08 TCGA-AB-2894-11A-01W-0732-08 G G G A G G Verified Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq 1 dbGAP Illumina HiSeq ac7f533d-3f28-49c8-9548-fd7d3d86a42a 243cf7ad-c094-494c-9fee-0523176d3079 8 76091409 76091409 G A SNP CRISPLD1 NM_031461.4 human genbank 54_36p +1 validated missense c.782 p.R261Q 0.995 NULL HMMSmart_SM00198,HMMPfam_LCCL,HMMSmart_SM00603,superfamily_LCCL domain,HMMPfam_SCP,superfamily_PR-1-like,PatternScan_CRISP_2 - no_errors 81 6 6.90 33 12 26.09 9 4 30.77 +PLEC 0 genome.wustl.edu 37 8 144990833 144990833 + Missense_Mutation SNP G G A TCGA-AB-2894-03A-01W-0733-08 TCGA-AB-2894-11A-01W-0732-08 G G G A G G Verified Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq 1 dbGAP Illumina HiSeq ac7f533d-3f28-49c8-9548-fd7d3d86a42a 243cf7ad-c094-494c-9fee-0523176d3079 8 145062821 145062821 G A SNP PLEC1 NM_201380.2 human genbank 54_36p -1 reviewed missense c.13567 p.R4523C 1.000 HMMPfam_Plectin,HMMSmart_SM00250,superfamily_Plakin repeat HMMPfam_Plectin,HMMSmart_SM00250,PatternScan_ACTININ_1,PatternScan_ACTININ_2,HMMPfam_CH,HMMSmart_SM00033,HMMPfam_S10_plectin,superfamily_Calponin-homology domain CH-domain,HMMSmart_SM00150,superfamily_Spectrin repeat,superfamily_Plakin repeat - no_errors 9 1 10.00 3 5 62.50 46 37 44.58 +ADAMTS1 0 genome.wustl.edu 37 21 28214747 28214747 + Missense_Mutation SNP G G A TCGA-AB-2894-03A-01W-0733-08 TCGA-AB-2894-11A-01W-0732-08 G G G A G G Verified Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq 1 dbGAP Illumina HiSeq ac7f533d-3f28-49c8-9548-fd7d3d86a42a 243cf7ad-c094-494c-9fee-0523176d3079 21 27136618 27136618 G A SNP ADAMTS1 NM_006988.3 human genbank 54_36p -1 reviewed missense c.988 p.R330W 0.998 HMMPfam_Reprolysin,superfamily_SSF55486 HMMPfam_TSP_1,HMMSmart_TSP1,superfamily_TSP1,HMMPfam_Reprolysin,HMMPfam_Pep_M12B_propep,PatternScan_ZINC_PROTEASE,HMMSmart_ACR,HMMPfam_ADAM_spacer1,PatternScan_DISINTEGRIN_1,superfamily_SSF55486 - no_errors 212 9 4.07 63 32 33.68 NA NA NA +PRDM16 0 genome.wustl.edu 37 1 3328523 3328523 + Missense_Mutation SNP G G A TCGA-AB-2895-03A-01W-0733-08 TCGA-AB-2895-11A-01W-0732-08 G G G A G G Verified Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq 1 dbGAP Illumina HiSeq ced1c58f-9241-45ee-9f22-0bfa1554881e ed37c4cc-1273-4e25-ba04-7d9bf757fffa 1 3318383 3318383 G A SNP PRDM16 NM_022114.2 human genbank 54_36p +1 reviewed missense c.1762 p.V588M 0.001 NULL HMMSmart_SM00317,HMMPfam_zf-C2H2,PatternScan_ZINC_FINGER_C2H2_1,HMMSmart_SM00355,superfamily_C2H2 and C2HC zinc fingers,superfamily_SET domain - no_errors 84 0 0.00 19 12 37.50 20 16 44.44 +DCAF8 0 genome.wustl.edu 37 1 160209996 160209996 + Missense_Mutation SNP A A G TCGA-AB-2895-03A-01W-0733-08 TCGA-AB-2895-11A-01W-0732-08 A A A G A A Verified Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq 1 dbGAP Illumina HiSeq ced1c58f-9241-45ee-9f22-0bfa1554881e ed37c4cc-1273-4e25-ba04-7d9bf757fffa 1 158476620 158476620 A G SNP WDR42A NM_015726.2 human genbank 54_36p -1 reviewed missense c.214 p.S72P 1.000 NULL HMMSmart_SM00320,superfamily_WD40 repeat-like,HMMPfam_WD40 - no_errors 109 1 0.91 114 109 48.44 96 89 48.11 +DNMT3A 0 genome.wustl.edu 37 2 25457242 25457242 + Missense_Mutation SNP C C T TCGA-AB-2895-03A-01W-0733-08 TCGA-AB-2895-11A-01W-0732-08 C C C T C C Verified Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq 1 dbGAP Illumina HiSeq ced1c58f-9241-45ee-9f22-0bfa1554881e ed37c4cc-1273-4e25-ba04-7d9bf757fffa 2 25310746 25310746 C T SNP DNMT3A NM_022552.3 human genbank 54_36p -1 reviewed missense c.2645 p.R882H 1.000 superfamily_S-adenosyl-L-methionine-dependent methyltransferases HMMPfam_PWWP,HMMSmart_SM00293,HMMPfam_DNA_methylase,superfamily_FYVE/PHD zinc finger,PatternScan_C5_MTASE_1,superfamily_S-adenosyl-L-methionine-dependent methyltransferases,superfamily_Tudor/PWWP/MBT - no_errors 130 0 0.00 18 16 47.06 39 58 59.18 +SH3TC2 0 genome.wustl.edu 37 5 148406153 148406153 + Missense_Mutation SNP C C T TCGA-AB-2895-03A-01W-0733-08 TCGA-AB-2895-11A-01W-0732-08 C C C T C C Verified Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq 1 dbGAP Illumina HiSeq ced1c58f-9241-45ee-9f22-0bfa1554881e ed37c4cc-1273-4e25-ba04-7d9bf757fffa 5 148386346 148386346 C T SNP SH3TC2 NM_024577.3 human genbank 54_36p -1 reviewed missense c.3035 p.R1012Q 0.998 superfamily_TPR-like HMMPfam_TPR_1,HMMPfam_SH3_1,HMMSmart_SM00326,superfamily_SH3-domain,HMMPfam_SH3_2,HMMSmart_SM00028,superfamily_TPR-like - no_errors 33 0 0.00 78 17 17.89 11 2 15.38 +ATP10B 0 genome.wustl.edu 37 5 160113140 160113140 + Missense_Mutation SNP T T C TCGA-AB-2895-03A-01W-0733-08 TCGA-AB-2895-11A-01W-0732-08 T T T C T T Verified Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq 1 dbGAP Illumina HiSeq ced1c58f-9241-45ee-9f22-0bfa1554881e ed37c4cc-1273-4e25-ba04-7d9bf757fffa 5 160045718 160045718 T C SNP ATP10B NM_025153.2 human genbank 54_36p -1 validated missense c.416 p.K139R 0.985 HMMPfam_E1-E2_ATPase HMMPfam_E1-E2_ATPase,HMMPfam_Hydrolase_3,PatternScan_ATPASE_E1_E2,superfamily_HAD-like,superfamily_Calcium ATPase transduction domain A,superfamily_Metal cation-transporting ATPase ATP-binding domain N - no_errors 114 1 0.85 114 65 36.31 NA NA NA +DOCK2 0 genome.wustl.edu 37 5 169125454 169125454 + Splice_Site SNP G G A TCGA-AB-2895-03A-01W-0733-08 TCGA-AB-2895-11A-01W-0732-08 G G G A G G Verified Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq 1 dbGAP Illumina HiSeq ced1c58f-9241-45ee-9f22-0bfa1554881e ed37c4cc-1273-4e25-ba04-7d9bf757fffa 5 169058032 169058032 G A SNP DOCK2 NM_004946.2 human genbank 54_36p +1 validated splice_site c.1055+1 e11+1 1.000 - - - no_errors 119 0 0.00 130 95 42.22 3 1 25.00 +TBX18 0 genome.wustl.edu 37 6 85454009 85454009 + Missense_Mutation SNP G G A TCGA-AB-2895-03A-01W-0733-08 TCGA-AB-2895-11A-01W-0732-08 G G G A G G Verified Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq 1 dbGAP Illumina HiSeq ced1c58f-9241-45ee-9f22-0bfa1554881e ed37c4cc-1273-4e25-ba04-7d9bf757fffa 6 85510728 85510728 G A SNP TBX18 NM_001080508.1 human genbank 54_36p -1 provisional missense c.974 p.A325V 1.000 HMMPfam_T-box,HMMSmart_TBOX,superfamily_P53_like_DNA_bnd HMMPfam_T-box,HMMSmart_TBOX,superfamily_P53_like_DNA_bnd,PatternScan_TBOX_2,PatternScan_TBOX_1 - no_errors 55 0 0.00 37 27 42.19 NA NA NA +DHX32 0 genome.wustl.edu 37 10 127569152 127569152 + Missense_Mutation SNP A A G TCGA-AB-2895-03A-01W-0733-08 TCGA-AB-2895-11A-01W-0732-08 A A A G A A Verified Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq 1 dbGAP Illumina HiSeq ced1c58f-9241-45ee-9f22-0bfa1554881e ed37c4cc-1273-4e25-ba04-7d9bf757fffa 10 127559142 127559142 A G SNP DHX32 NM_018180.2 human genbank 54_36p -1 reviewed missense c.242 p.V81A 0.861 superfamily_P-loop containing nucleoside triphosphate hydrolases HMMPfam_HA2,HMMPfam_DUF1605,superfamily_P-loop containing nucleoside triphosphate hydrolases - no_errors 78 0 0.00 52 42 44.68 15 18 54.55 +LDLRAD3 0 genome.wustl.edu 37 11 36250884 36250884 + Silent SNP C C T TCGA-AB-2895-03A-01W-0733-08 TCGA-AB-2895-11A-01W-0732-08 C C C T C C Verified Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq 1 dbGAP Illumina HiSeq ced1c58f-9241-45ee-9f22-0bfa1554881e ed37c4cc-1273-4e25-ba04-7d9bf757fffa 11 36207460 36207460 C T SNP LDLRAD3 NM_174902.2 human genbank 54_36p +1 provisional silent c.975 p.G325 0.060 NULL HMMPfam_Ldl_recept_a,HMMSmart_LDLa,PatternScan_LDLRA_1,superfamily_LDL_rcpt_classA_cys-rich - no_errors 28 0 0.00 21 11 34.38 0 1 100.00 +TSKU 0 genome.wustl.edu 37 11 76506897 76506897 + Silent SNP G G A TCGA-AB-2895-03A-01W-0733-08 TCGA-AB-2895-11A-01W-0732-08 G G G A G G Verified Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq 1 dbGAP Illumina HiSeq ced1c58f-9241-45ee-9f22-0bfa1554881e ed37c4cc-1273-4e25-ba04-7d9bf757fffa 11 76184545 76184545 G A SNP TSKU NM_015516.3 human genbank 54_36p +1 validated silent c.237 p.A79 0.722 superfamily_SSF52047 HMMSmart_LRRNT,HMMPfam_LRR_1,HMMSmart_LRR_TYP,superfamily_SSF52047 - no_errors 63 0 0.00 40 22 35.48 NA NA NA +CAND1 0 genome.wustl.edu 37 12 67700254 67700254 + Missense_Mutation SNP T T G TCGA-AB-2895-03A-01W-0733-08 TCGA-AB-2895-11A-01W-0732-08 T T T G T T Verified Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq 1 dbGAP Illumina HiSeq ced1c58f-9241-45ee-9f22-0bfa1554881e ed37c4cc-1273-4e25-ba04-7d9bf757fffa 12 65986521 65986521 T G SNP CAND1 NM_018448.3 human genbank 54_36p +1 validated missense c.2806 p.L936V 0.998 superfamily_ARM repeat HMMPfam_HEAT,HMMPfam_TIP120,superfamily_ARM repeat - no_errors 47 1 2.04 56 74 56.92 43 42 49.41 +GUCY2D 0 genome.wustl.edu 37 17 7917239 7917239 + Missense_Mutation SNP C C T TCGA-AB-2895-03A-01W-0733-08 TCGA-AB-2895-11A-01W-0732-08 C C C T C C Verified Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq 1 dbGAP Illumina HiSeq ced1c58f-9241-45ee-9f22-0bfa1554881e ed37c4cc-1273-4e25-ba04-7d9bf757fffa 17 7857964 7857964 C T SNP GUCY2D NM_000180.3 human genbank 54_36p +1 reviewed missense c.2305 p.P769S 1.000 superfamily_Kinase_like,HMMPfam_Pkinase HMMPfam_Guanylate_cyc,HMMSmart_CYCc,superfamily_A/G_cyclase,HMMPfam_ANF_receptor,superfamily_Kinase_like,HMMPfam_Pkinase,PatternScan_GUANYLATE_CYCLASE_1,superfamily_SSF53822 - no_errors 75 0 0.00 33 19 36.54 0 1 100.00 +GAS7 0 genome.wustl.edu 37 17 9830018 9830018 + Silent SNP G G A TCGA-AB-2895-03A-01W-0733-08 TCGA-AB-2895-11A-01W-0732-08 G G G A G G Verified Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq 1 dbGAP Illumina HiSeq ced1c58f-9241-45ee-9f22-0bfa1554881e ed37c4cc-1273-4e25-ba04-7d9bf757fffa 17 9770743 9770743 G A SNP GAS7 NM_201433.1 human genbank 54_36p -1 reviewed silent c.954 p.C318 0.891 NULL HMMPfam_FCH,HMMSmart_SM00055,HMMPfam_WW,HMMSmart_SM00456,PatternScan_WW_DOMAIN_1,superfamily_WW domain,HMMPfam_SH3_1,HMMSmart_SM00326,superfamily_SH3-domain - no_errors 149 2 1.31 127 39 23.49 28 5 14.71 +MED24 0 genome.wustl.edu 37 17 38189624 38189624 + Silent SNP G G T TCGA-AB-2895-03A-01W-0733-08 TCGA-AB-2895-11A-01W-0732-08 G G G T G G Verified Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq 1 dbGAP Illumina HiSeq ced1c58f-9241-45ee-9f22-0bfa1554881e ed37c4cc-1273-4e25-ba04-7d9bf757fffa 17 35443150 35443150 G T SNP MED24 NM_014815.1 human genbank 54_36p -1 reviewed silent c.645 p.A215 0.346 NULL NULL - no_errors 120 0 0.00 39 41 51.25 40 39 49.37 +ALDH16A1 0 genome.wustl.edu 37 19 49965892 49965892 + Silent SNP G G A TCGA-AB-2895-03A-01W-0733-08 TCGA-AB-2895-11A-01W-0732-08 G G G A G G Verified Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq 1 dbGAP Illumina HiSeq ced1c58f-9241-45ee-9f22-0bfa1554881e ed37c4cc-1273-4e25-ba04-7d9bf757fffa 19 54657704 54657704 G A SNP ALDH16A1 NM_153329.1 human genbank 54_36p +1 validated silent c.978 p.R326 0.406 HMMPfam_Aldedh,superfamily_ALDH-like HMMPfam_Aldedh,superfamily_ALDH-like - no_errors 23 0 0.00 32 8 20.00 17 7 29.17 +NPM1 0 genome.wustl.edu 37 5 170837543 170837544 + Frame_Shift_Ins INS - - TCTG TCGA-AB-2895-03A-01W-0733-08 TCGA-AB-2895-11A-01W-0732-08 - - - TCTG - - Verified Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq 1 dbGAP Illumina HiSeq ced1c58f-9241-45ee-9f22-0bfa1554881e ed37c4cc-1273-4e25-ba04-7d9bf757fffa 5 170770148 170770149 - TCTG INS NPM1 NM_002520.1 human genbank 54_36p +1 validated frame_shift_ins c.859_860 p.W288fs 1.000:1.000 NULL HMMPfam_Nucleoplasmin,superfamily_Nucleoplasmin-like core domain - no_errors NA NA NA NA NA NA NA NA NA +FLT3 0 genome.wustl.edu 37 13 28608218 28608219 + In_Frame_Ins INS - - CAAACTCTAAATTTTCTCTTGGAAACTCCCATTTGAGATCATATT TCGA-AB-2895-03A-01W-0733-08 TCGA-AB-2895-11A-01W-0732-08 - - - CAAACTCTAAATTTTCTCTTGGAAACTCCCATTTGAGATCATATT - - Verified Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq 1 dbGAP Illumina HiSeq ced1c58f-9241-45ee-9f22-0bfa1554881e ed37c4cc-1273-4e25-ba04-7d9bf757fffa 13 27506218 27506219 - CAAACTCTAAATTTTCTCTTGGAAACTCCCATTTGAGATCATATT INS FLT3 NM_004119.2 human genbank 54_36p -1 reviewed in_frame_ins in_frame_ins 1.000:1.000 - - - no_errors NA NA NA NA NA NA NA NA NA +DNMT3A 0 genome.wustl.edu 37 2 25457242 25457242 + Missense_Mutation SNP C C T TCGA-AB-2896-03A-01W-0733-08 TCGA-AB-2896-11A-01W-0732-08 C C C T C C Verified Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq 1 dbGAP Illumina HiSeq 5af54c99-17a9-4dd6-9be1-45ac66819716 b49520b5-7cd3-48ff-aafa-c798a7637740 2 25310746 25310746 C T SNP DNMT3A NM_022552.3 human genbank 54_36p -1 reviewed missense c.2645 p.R882H 1.000 superfamily_S-adenosyl-L-methionine-dependent methyltransferases HMMPfam_PWWP,HMMSmart_SM00293,HMMPfam_DNA_methylase,superfamily_FYVE/PHD zinc finger,PatternScan_C5_MTASE_1,superfamily_S-adenosyl-L-methionine-dependent methyltransferases,superfamily_Tudor/PWWP/MBT - no_errors 53 28 34.15 29 22 43.14 43 56 56.00 +NPM1 0 genome.wustl.edu 37 5 170837547 170837548 + Frame_Shift_Ins INS - - TCTG TCGA-AB-2896-03A-01W-0733-08 TCGA-AB-2896-11A-01W-0732-08 - - - TCTG - - Verified Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq 1 dbGAP Illumina HiSeq 5af54c99-17a9-4dd6-9be1-45ac66819716 b49520b5-7cd3-48ff-aafa-c798a7637740 5 170770152 170770153 - TCTG INS NPM1 NM_002520.1 human genbank 54_36p +1 validated frame_shift_ins c.863_864 p.W288fs 1.000:1.000 NULL HMMPfam_Nucleoplasmin,superfamily_Nucleoplasmin-like core domain - no_errors NA NA NA NA NA NA NA NA NA +SLC39A5 0 genome.wustl.edu 37 12 56631015 56631016 + Frame_Shift_Ins INS - - G TCGA-AB-2896-03A-01W-0733-08 TCGA-AB-2896-11A-01W-0732-08 - - - G - - Verified Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq 1 dbGAP Illumina HiSeq 5af54c99-17a9-4dd6-9be1-45ac66819716 b49520b5-7cd3-48ff-aafa-c798a7637740 12 54917282 54917283 - G INS SLC39A5 NM_173596.1 human genbank 54_36p +1 validated frame_shift_ins c.1367_1368 p.A459fs 0.797:0.707 HMMPfam_Zip HMMPfam_Zip - no_errors 33 0 0.00 27 4 12.90 2 0 0.00 +PHIP 0 genome.wustl.edu 37 6 79735852 79735852 + Missense_Mutation SNP C C A TCGA-AB-2897-03A-01W-0733-08 TCGA-AB-2897-11A-01W-0732-08 C C C A C C Verified Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq 1 dbGAP Illumina HiSeq c5cf74cb-e85e-4c8e-867f-e31d71d24045 0ca12dcf-77b9-4ee1-9509-b7619271484c 6 79792571 79792571 C A SNP PHIP NM_017934.5 human genbank 54_36p -1 validated missense c.630 p.W210C 1.000 HMMSmart_SM00320,superfamily_YVTN repeat-like/Quinoprotein amine dehydrogenase,HMMPfam_WD40 HMMPfam_Bromodomain,HMMSmart_SM00297,superfamily_Bromodomain,HMMSmart_SM00320,superfamily_YVTN repeat-like/Quinoprotein amine dehydrogenase,PatternScan_BROMODOMAIN_1,PatternScan_WD_REPEATS_1,HMMPfam_WD40 - no_errors 155 0 0.00 133 25 15.72 56 10 15.15 +AKD1 0 genome.wustl.edu 37 6 109814625 109814625 + Missense_Mutation SNP G G A TCGA-AB-2897-03A-01W-0733-08 TCGA-AB-2897-11A-01W-0732-08 G G G A G G Verified Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq 1 dbGAP Illumina HiSeq c5cf74cb-e85e-4c8e-867f-e31d71d24045 0ca12dcf-77b9-4ee1-9509-b7619271484c 6 109921318 109921318 G A SNP C6orf224 NM_173559.1 human genbank 54_36p -1 predicted missense c.880 p.H294Y 0.975 NULL NULL - no_errors 105 1 0.93 115 76 39.58 4 2 33.33 +MLLT4 0 genome.wustl.edu 37 6 168352305 168352305 + Missense_Mutation SNP G G A TCGA-AB-2897-03A-01W-0733-08 TCGA-AB-2897-11A-01W-0732-08 G G G A G G Verified Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq 1 dbGAP Illumina HiSeq c5cf74cb-e85e-4c8e-867f-e31d71d24045 0ca12dcf-77b9-4ee1-9509-b7619271484c 6 168095154 168095154 G A SNP MLLT4 NM_001040001.1 human genbank 54_36p +1 validated missense c.4247 p.R1416H 1.000 NULL HMMPfam_RA,HMMSmart_RA,HMMPfam_FHA,HMMSmart_FHA,HMMPfam_PDZ,HMMSmart_PDZ,superfamily_PDZ,superfamily_SMAD_FHA,HMMPfam_DIL,superfamily_SSF54236 - no_errors 43 1 2.27 124 61 32.97 NA NA NA +FAM155A 0 genome.wustl.edu 37 13 107822902 107822902 + Silent SNP G G A TCGA-AB-2897-03A-01W-0733-08 TCGA-AB-2897-11A-01W-0732-08 G G G A G G Verified Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq 1 dbGAP Illumina HiSeq c5cf74cb-e85e-4c8e-867f-e31d71d24045 0ca12dcf-77b9-4ee1-9509-b7619271484c 13 106620903 106620903 G A SNP FAM155A NM_001080396.1 human genbank 54_36p -1 provisional silent c.1320 p.A440 0.272 NULL NULL - no_errors 299 1 0.33 243 107 30.57 NA NA NA +OR11H12 0 genome.wustl.edu 37 14 19378512 19378512 + Missense_Mutation SNP C C A TCGA-AB-2897-03A-01W-0733-08 TCGA-AB-2897-11A-01W-0732-08 C C C A C C Verified Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq 1 dbGAP Illumina HiSeq c5cf74cb-e85e-4c8e-867f-e31d71d24045 0ca12dcf-77b9-4ee1-9509-b7619271484c 14 18448512 18448512 C A SNP OR11H12 NM_001013354.1 human genbank 54_36p +1 provisional missense c.919 p.L307I 0.968 superfamily_SSF81321 HMMPfam_7tm_1,PatternScan_G_PROTEIN_RECEP_F1_1,superfamily_SSF81321 - no_errors 63 0 0.00 32 23 41.82 NA NA NA +MSRB1 0 genome.wustl.edu 37 16 1991314 1991314 + Missense_Mutation SNP T T C TCGA-AB-2897-03A-01W-0733-08 TCGA-AB-2897-11A-01W-0732-08 T T T C T T Verified Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq 1 dbGAP Illumina HiSeq c5cf74cb-e85e-4c8e-867f-e31d71d24045 0ca12dcf-77b9-4ee1-9509-b7619271484c 16 1931315 1931315 T C SNP SEPX1 ENST00000399753 human ensembl 54_36p -1 known missense c.148 p.I50V 1.000 HMMPfam_SelR,superfamily_Mss4_like HMMPfam_SelR,superfamily_Mss4_like - no_errors 48 0 0.00 24 10 29.41 52 48 48.00 +CALR 0 genome.wustl.edu 37 19 13050446 13050447 + Splice_Site INS - - T TCGA-AB-2897-03A-01W-0733-08 TCGA-AB-2897-11A-01W-0732-08 - - - T - - Verified Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq 1 dbGAP Illumina HiSeq c5cf74cb-e85e-4c8e-867f-e31d71d24045 0ca12dcf-77b9-4ee1-9509-b7619271484c 19 12911446 12911447 - T INS CALR NM_004343.3 human genbank 54_36p +1 reviewed splice_site_ins c.397+1_397+1 e3+1 1.000:1.000 - - - no_errors 110 0 0.00 102 13 11.30 4965 31 0.62 +USP24 0 genome.wustl.edu 37 1 55589119 55589119 + Splice_Site SNP C C T TCGA-AB-2898-03A-01W-0733-08 TCGA-AB-2898-11A-01W-0732-08 C C C T C C Verified Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq 1 dbGAP Illumina HiSeq cebc6078-57bf-4866-a96d-a9e4fdaaf44d e0e506a6-aeda-49ac-9ce5-46792b9b8c25 1 55361707 55361707 C T SNP USP24 NM_015306.1 human genbank 54_36p -1 validated splice_site c.3796+1 e33+1 1.000 - - - no_errors 97 2 2.02 170 136 44.16 1 96 96.00 +DNMT3A 0 genome.wustl.edu 37 2 25459803 25459803 + Splice_Site SNP A A C TCGA-AB-2898-03A-01W-0733-08 TCGA-AB-2898-11A-01W-0732-08 A A A C A A Verified Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq 1 dbGAP Illumina HiSeq cebc6078-57bf-4866-a96d-a9e4fdaaf44d e0e506a6-aeda-49ac-9ce5-46792b9b8c25 2 25313307 25313307 A C SNP DNMT3A NM_022552.3 human genbank 54_36p -1 reviewed splice_site c.2478+2 e20+2 0.998 - - - no_errors 27 0 0.00 14 13 46.43 6 5 45.45 +DNMT3A 0 genome.wustl.edu 37 2 25462032 25462032 + Missense_Mutation SNP C C T TCGA-AB-2898-03A-01W-0733-08 TCGA-AB-2898-11A-01W-0732-08 C C C T C C Verified Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq 1 dbGAP Illumina HiSeq cebc6078-57bf-4866-a96d-a9e4fdaaf44d e0e506a6-aeda-49ac-9ce5-46792b9b8c25 2 25315536 25315536 C T SNP DNMT3A NM_022552.3 human genbank 54_36p -1 reviewed missense c.2375 p.R792H 1.000 superfamily_S-adenosyl-L-methionine-dependent methyltransferases HMMPfam_PWWP,HMMSmart_SM00293,HMMPfam_DNA_methylase,superfamily_FYVE/PHD zinc finger,PatternScan_C5_MTASE_1,superfamily_S-adenosyl-L-methionine-dependent methyltransferases,superfamily_Tudor/PWWP/MBT - no_errors 26 0 0.00 26 19 42.22 20 46 69.70 +EPAS1 0 genome.wustl.edu 37 2 46602890 46602890 + Silent SNP C C T TCGA-AB-2898-03A-01W-0733-08 TCGA-AB-2898-11A-01W-0732-08 C C C T C C Verified Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq 1 dbGAP Illumina HiSeq cebc6078-57bf-4866-a96d-a9e4fdaaf44d e0e506a6-aeda-49ac-9ce5-46792b9b8c25 2 46456394 46456394 C T SNP EPAS1 NM_001430.3 human genbank 54_36p +1 validated silent c.948 p.Y316 0.901 HMMSmart_PAC,HMMPfam_PAS_3,superfamily_SSF55785 HMMSmart_PAS,HMMPfam_HLH,HMMSmart_HLH,HMMSmart_PAC,superfamily_HLH_basic,HMMPfam_PAS_3,HMMPfam_HIF-1a_CTAD,superfamily_SSF55785 - no_errors 126 2 1.56 64 58 47.54 8 0 0.00 +PTPRN 0 genome.wustl.edu 37 2 220166869 220166869 + Silent SNP A A C TCGA-AB-2898-03A-01W-0733-08 TCGA-AB-2898-11A-01W-0732-08 A A A C A A Verified Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq 1 dbGAP Illumina HiSeq cebc6078-57bf-4866-a96d-a9e4fdaaf44d e0e506a6-aeda-49ac-9ce5-46792b9b8c25 2 219875113 219875113 A C SNP PTPRN NM_002846.2 human genbank 54_36p -1 reviewed silent c.984 p.A328 0.007 NULL HMMPfam_Y_phosphatase,HMMSmart_SM00194,HMMSmart_SM00404,PatternScan_TYR_PHOSPHATASE_1,superfamily_(Phosphotyrosine protein) phosphatases II - no_errors 98 0 0.00 127 90 41.10 NA NA NA +ATP2C1 0 genome.wustl.edu 37 3 130714936 130714936 + Missense_Mutation SNP G G A TCGA-AB-2898-03A-01W-0733-08 TCGA-AB-2898-11A-01W-0732-08 G G G A G G Verified Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq 1 dbGAP Illumina HiSeq cebc6078-57bf-4866-a96d-a9e4fdaaf44d e0e506a6-aeda-49ac-9ce5-46792b9b8c25 3 132197626 132197626 G A SNP ATP2C1 NM_001001486.1 human genbank 54_36p +1 reviewed missense c.2107 p.V703I 1.000 superfamily_Calcium ATPase transmembrane domain M HMMPfam_Cation_ATPase_N,HMMPfam_Hydrolase,HMMPfam_Cation_ATPase_C,HMMPfam_E1-E2_ATPase,PatternScan_ATPASE_E1_E2,superfamily_HAD-like,superfamily_Calcium ATPase transduction domain A,superfamily_Metal cation-transporting ATPase ATP-binding domain N,superfamily_Calcium ATPase transmembrane domain M - no_errors 76 0 0.00 56 50 47.17 66 39 37.14 +FAM193A 0 genome.wustl.edu 37 4 2698284 2698284 + Silent SNP G G A TCGA-AB-2898-03A-01W-0733-08 TCGA-AB-2898-11A-01W-0732-08 G G G A G G Verified Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq 1 dbGAP Illumina HiSeq cebc6078-57bf-4866-a96d-a9e4fdaaf44d e0e506a6-aeda-49ac-9ce5-46792b9b8c25 4 2668082 2668082 G A SNP C4orf8 NM_003704.3 human genbank 54_36p +1 validated silent c.2598 p.T866 0.983 NULL NULL - no_errors 91 0 0.00 89 68 43.31 26 11 29.73 +CRISPLD1 0 genome.wustl.edu 37 8 75929669 75929669 + Missense_Mutation SNP G G A TCGA-AB-2898-03A-01W-0733-08 TCGA-AB-2898-11A-01W-0732-08 G G G A G G Verified Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq 1 dbGAP Illumina HiSeq cebc6078-57bf-4866-a96d-a9e4fdaaf44d e0e506a6-aeda-49ac-9ce5-46792b9b8c25 8 76092224 76092224 G A SNP CRISPLD1 NM_031461.4 human genbank 54_36p +1 validated missense c.1111 p.G371S 1.000 HMMPfam_LCCL,HMMSmart_SM00603,superfamily_LCCL domain HMMSmart_SM00198,HMMPfam_LCCL,HMMSmart_SM00603,superfamily_LCCL domain,HMMPfam_SCP,superfamily_PR-1-like,PatternScan_CRISP_2 - no_errors 64 0 0.00 38 63 62.38 7 9 56.25 +PCDH15 0 genome.wustl.edu 37 10 55587268 55587268 + Missense_Mutation SNP C C T TCGA-AB-2898-03A-01W-0733-08 TCGA-AB-2898-11A-01W-0732-08 C C C T C C Verified Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq 1 dbGAP Illumina HiSeq cebc6078-57bf-4866-a96d-a9e4fdaaf44d e0e506a6-aeda-49ac-9ce5-46792b9b8c25 10 55257274 55257274 C T SNP PCDH15 NM_033056.1 human genbank 54_36p -1 reviewed missense c.4252 p.A1418T 0.977 NULL HMMPfam_Cadherin,HMMSmart_SM00112,PatternScan_CADHERIN_1,superfamily_Cadherin-like - no_errors 62 0 0.00 22 22 50.00 NA NA NA +TET1 0 genome.wustl.edu 37 10 70405604 70405604 + Missense_Mutation SNP C C T TCGA-AB-2898-03A-01W-0733-08 TCGA-AB-2898-11A-01W-0732-08 C C C T C C Verified Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq 1 dbGAP Illumina HiSeq cebc6078-57bf-4866-a96d-a9e4fdaaf44d e0e506a6-aeda-49ac-9ce5-46792b9b8c25 10 70075610 70075610 C T SNP TET1 NM_030625.2 human genbank 54_36p +1 validated missense c.3118 p.P1040S 0.000 NULL HMMPfam_zf-CXXC - no_errors 152 0 0.00 78 62 43.66 3 1 25.00 +MYO16 0 genome.wustl.edu 37 13 109379889 109379889 + Silent SNP C C T TCGA-AB-2898-03A-01W-0733-08 TCGA-AB-2898-11A-01W-0732-08 C C C T C C Verified Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq 1 dbGAP Illumina HiSeq cebc6078-57bf-4866-a96d-a9e4fdaaf44d e0e506a6-aeda-49ac-9ce5-46792b9b8c25 13 108177890 108177890 C T SNP MYO16 NM_015011.1 human genbank 54_36p +1 validated silent c.399 p.A133 1.000 HMMPfam_Ank,HMMSmart_SM00248,superfamily_Ankyrin repeat HMMPfam_IQ,HMMPfam_Myosin_head,HMMSmart_SM00242,HMMPfam_Ank,HMMSmart_SM00248,superfamily_Ankyrin repeat,superfamily_P-loop containing nucleoside triphosphate hydrolases - no_errors 284 0 0.00 84 67 43.79 NA NA NA +ACAN 0 genome.wustl.edu 37 15 89401084 89401084 + Silent SNP C C T TCGA-AB-2898-03A-01W-0733-08 TCGA-AB-2898-11A-01W-0732-08 C C C T C C Verified Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq 1 dbGAP Illumina HiSeq cebc6078-57bf-4866-a96d-a9e4fdaaf44d e0e506a6-aeda-49ac-9ce5-46792b9b8c25 15 87202088 87202088 C T SNP ACAN NM_013227.2 human genbank 54_36p +1 reviewed silent c.4926 p.S1642 0.969 NULL HMMPfam_Sushi,HMMSmart_SM00032,HMMPfam_Xlink,HMMSmart_SM00445,PatternScan_LINK_1,HMMPfam_Lectin_C,HMMSmart_SM00034,PatternScan_IG_MHC,HMMSmart_SM00406,HMMSmart_SM00409,HMMPfam_EGF,HMMSmart_SM00181,PatternScan_EGF_1,PatternScan_EGF_2,HMMPfam_V-set,superfamily_Complement control module/SCR domain,superfamily_C-type lectin-like,PatternScan_C_TYPE_LECTIN_1,superfamily_Immunoglobulin,superfamily_EGF/Laminin - no_errors 36 1 2.70 29 18 38.30 NA NA NA +IDH2 0 genome.wustl.edu 37 15 90631838 90631838 + Missense_Mutation SNP C C T rs121913503 TCGA-AB-2898-03A-01W-0733-08 TCGA-AB-2898-11A-01W-0732-08 C C C T C C Verified Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq 1 dbGAP Illumina HiSeq cebc6078-57bf-4866-a96d-a9e4fdaaf44d e0e506a6-aeda-49ac-9ce5-46792b9b8c25 15 88432842 88432842 C T SNP IDH2 NM_002168.2 human genbank 54_36p -1 reviewed missense c.515 p.R172K 1.000 HMMPfam_Iso_dh,superfamily_Isocitrate/Isopropylmalate dehydrogenase-like HMMPfam_Iso_dh,PatternScan_IDH_IMDH,superfamily_Isocitrate/Isopropylmalate dehydrogenase-like - no_errors 78 0 0.00 43 32 42.11 80 81 50.31 +CUEDC1 0 genome.wustl.edu 37 17 55962593 55962593 + Silent SNP C C T TCGA-AB-2898-03A-01W-0733-08 TCGA-AB-2898-11A-01W-0732-08 C C C T C C Verified Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq 1 dbGAP Illumina HiSeq cebc6078-57bf-4866-a96d-a9e4fdaaf44d e0e506a6-aeda-49ac-9ce5-46792b9b8c25 17 53317592 53317592 C T SNP CUEDC1 NM_017949.1 human genbank 54_36p -1 provisional silent c.333 p.P111 0.274 NULL HMMPfam_CUE,HMMSmart_SM00546,superfamily_UBA-like - no_errors 18 0 0.00 32 17 34.69 7 3 30.00 +MEGF8 0 genome.wustl.edu 37 19 42873053 42873053 + Silent SNP C C T TCGA-AB-2898-03A-01W-0733-08 TCGA-AB-2898-11A-01W-0732-08 C C C T C C Verified Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq 1 dbGAP Illumina HiSeq cebc6078-57bf-4866-a96d-a9e4fdaaf44d e0e506a6-aeda-49ac-9ce5-46792b9b8c25 19 47564893 47564893 C T SNP MEGF8 NM_001410.2 human genbank 54_36p +1 validated silent c.6339 p.D2113 1.000 NULL PatternScan_ASX_HYDROXYL,HMMPfam_CUB,HMMSmart_CUB,superfamily_CUB,HMMSmart_EGF_CA,HMMPfam_Laminin_EGF,HMMSmart_EGF_Lam,PatternScan_EGF_LAM_1,HMMPfam_PSI,HMMSmart_PSI,HMMSmart_EGF,HMMPfam_Kelch_1,superfamily_Gal_oxid_central,PatternScan_EGF_1,PatternScan_EGF_2,HMMPfam_EGF_CA,HMMPfam_EGF_2,PatternScan_EGF_CA,PatternScan_C_TYPE_LECTIN_1,superfamily_SSF57196 - no_errors 84 0 0.00 15 14 48.28 12 6 33.33 +SEL1L2 0 genome.wustl.edu 37 20 13858170 13858170 + Missense_Mutation SNP C C T TCGA-AB-2898-03A-01W-0733-08 TCGA-AB-2898-11A-01W-0732-08 C C C T C C Verified Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq 1 dbGAP Illumina HiSeq cebc6078-57bf-4866-a96d-a9e4fdaaf44d e0e506a6-aeda-49ac-9ce5-46792b9b8c25 20 13806170 13806170 C T SNP SEL1L2 NM_025229.1 human genbank 54_36p -1 validated missense c.1022 p.G341E 1.000 HMMPfam_Sel1,HMMSmart_SEL1,superfamily_SSF81901 HMMPfam_Sel1,HMMSmart_SEL1,superfamily_SSF81901 - no_errors 143 0 0.00 81 79 49.38 NA NA NA +DOPEY2 0 genome.wustl.edu 37 21 37600135 37600135 + Missense_Mutation SNP C C A TCGA-AB-2898-03A-01W-0733-08 TCGA-AB-2898-11A-01W-0732-08 C C C A C C Verified Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq 1 dbGAP Illumina HiSeq cebc6078-57bf-4866-a96d-a9e4fdaaf44d e0e506a6-aeda-49ac-9ce5-46792b9b8c25 21 36522005 36522005 C A SNP DOPEY2 NM_005128.2 human genbank 54_36p +1 validated missense c.1625 p.P542H 1.000 NULL HMMPfam_Dopey_N - no_errors 126 0 0.00 40 28 41.18 18 15 45.45 +ASXL2 0 genome.wustl.edu 37 2 25967233 25967234 + Frame_Shift_Ins INS - - CT TCGA-AB-2898-03A-01W-0733-08 TCGA-AB-2898-11A-01W-0732-08 - - - CT - - Verified Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq 1 dbGAP Illumina HiSeq cebc6078-57bf-4866-a96d-a9e4fdaaf44d e0e506a6-aeda-49ac-9ce5-46792b9b8c25 2 25820737 25820738 - CT INS ASXL2 NM_018263.4 human genbank 54_36p -1 validated frame_shift_ins c.1973_1972 p.A658fs 1.000:1.000 NULL NULL - no_errors 319 0 0.00 68 39 36.45 13 4 23.53 +MPI 0 genome.wustl.edu 37 15 75185119 75185121 + In_Frame_Del DEL GAG GAG - TCGA-AB-2898-03A-01W-0733-08 TCGA-AB-2898-11A-01W-0732-08 GAG GAG GAG - GAG GAG Verified Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq 1 dbGAP Illumina HiSeq cebc6078-57bf-4866-a96d-a9e4fdaaf44d e0e506a6-aeda-49ac-9ce5-46792b9b8c25 15 72972172 72972174 GAG - DEL MPI NM_002435.1 human genbank 54_36p +1 reviewed in_frame_del c.463_465 p.E156in_frame_del 0.983:0.998:1.000 HMMPfam_PMI_typeI,superfamily_RmlC-like cupins HMMPfam_PMI_typeI,superfamily_RmlC-like cupins,PatternScan_PMI_I_1,PatternScan_PMI_I_2 - no_errors 0 0 0.00 0 13 20.63 0 3 15.00 +TCEAL6 0 genome.wustl.edu 37 X 101396171 101396171 + Missense_Mutation SNP C C T TCGA-AB-2899-03A-01W-0733-08 TCGA-AB-2899-11A-01W-0732-08 C C C T C C Verified Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq 1 dbGAP Illumina HiSeq 2c9108eb-c59a-4227-b650-56e61b3aa0ea a29bd0de-862b-4b95-95a7-93b321a3e6ac X 101282827 101282827 C T SNP TCEAL6 NM_001006938.2 human genbank 54_36p -1 validated missense c.133 p.E45K 0.010 HMMPfam_TFA HMMPfam_TFA - no_errors 67 0 0.00 152 113 42.64 NA NA NA +ALG13 0 genome.wustl.edu 37 X 111003073 111003073 + Missense_Mutation SNP C C T TCGA-AB-2899-03A-01W-0733-08 TCGA-AB-2899-11A-01W-0732-08 C C C T C C Verified Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq 1 dbGAP Illumina HiSeq 2c9108eb-c59a-4227-b650-56e61b3aa0ea a29bd0de-862b-4b95-95a7-93b321a3e6ac X 110889729 110889729 C T SNP ALG13 ENST00000394780 human ensembl 54_36p +1 known missense c.3260 p.P1087L 0.057 NULL HMMPfam_OTU,HMMPfam_Glyco_tran_28_C,superfamily_SSF53756,superfamily_SSF54001,superfamily_SSF63748 - no_errors 74 4 5.13 60 40 40.00 24 0 0.00 +SPEG 0 genome.wustl.edu 37 2 220344734 220344734 + Silent SNP G G C TCGA-AB-2899-03A-01W-0733-08 TCGA-AB-2899-11A-01W-0732-08 G G G C G G Verified Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq 1 dbGAP Illumina HiSeq 2c9108eb-c59a-4227-b650-56e61b3aa0ea a29bd0de-862b-4b95-95a7-93b321a3e6ac 2 220052978 220052978 G C SNP SPEG NM_005876.4 human genbank 54_36p +1 validated silent c.5214 p.R1738 0.999 HMMSmart_SM00220,superfamily_Protein kinase-like (PK-like),HMMPfam_Pkinase HMMSmart_SM00219,HMMSmart_SM00220,HMMSmart_SM00408,HMMSmart_SM00409,HMMPfam_fn3,HMMSmart_SM00060,PatternScan_PROTEIN_KINASE_ST,superfamily_Fibronectin type III,superfamily_Protein kinase-like (PK-like),HMMPfam_I-set,PatternScan_PROTEIN_KINASE_ATP,HMMPfam_Pkinase,superfamily_Immunoglobulin - no_errors 134 2 1.47 36 35 49.30 NA NA NA +LOC652670 0 genome.wustl.edu 37 3 75591984 75591984 + RNA SNP C C T TCGA-AB-2899-03A-01W-0733-08 TCGA-AB-2899-11A-01W-0732-08 C C C T C C Verified Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq 1 dbGAP Illumina HiSeq 2c9108eb-c59a-4227-b650-56e61b3aa0ea a29bd0de-862b-4b95-95a7-93b321a3e6ac 3 75674674 75674674 C T SNP LOC652670 XR_016285.2 human genbank 54_36p -1 model rna NULL NULL 1.000 - - - pseudogene 62 2 3.12 27 68 71.58 0 0 0.00 +SLC2A9 0 genome.wustl.edu 37 4 9998563 9998563 + Silent SNP G G A TCGA-AB-2899-03A-01W-0733-08 TCGA-AB-2899-11A-01W-0732-08 G G G A G G Verified Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq 1 dbGAP Illumina HiSeq 2c9108eb-c59a-4227-b650-56e61b3aa0ea a29bd0de-862b-4b95-95a7-93b321a3e6ac 4 9607661 9607661 G A SNP SLC2A9 NM_020041.1 human genbank 54_36p -1 reviewed silent c.252 p.Y84 1.000 HMMPfam_Sugar_tr,superfamily_MFS general substrate transporter HMMPfam_Sugar_tr,PatternScan_SUGAR_TRANSPORT_1,PatternScan_SUGAR_TRANSPORT_2,superfamily_MFS general substrate transporter - no_errors 121 6 4.69 55 33 37.50 7 3 30.00 +DUSP1 0 genome.wustl.edu 37 5 172195817 172195817 + Missense_Mutation SNP T T C TCGA-AB-2899-03A-01W-0733-08 TCGA-AB-2899-11A-01W-0732-08 T T T C T T Verified Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq 1 dbGAP Illumina HiSeq 2c9108eb-c59a-4227-b650-56e61b3aa0ea a29bd0de-862b-4b95-95a7-93b321a3e6ac 5 172128423 172128423 T C SNP DUSP1 NM_004417.2 human genbank 54_36p -1 reviewed missense c.1052 p.N351S 0.996 NULL HMMPfam_DSPc,HMMPfam_Rhodanese,HMMSmart_RHOD,superfamily_Rhodanese-like,PatternScan_TYR_PHOSPHATASE_1,HMMSmart_DSPc,superfamily_SSF52799 - no_errors 45 1 2.17 46 39 45.88 434 374 46.23 +OPN5 0 genome.wustl.edu 37 6 47776045 47776045 + Silent SNP C C T TCGA-AB-2899-03A-01W-0733-08 TCGA-AB-2899-11A-01W-0732-08 C C C T C C Verified Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq 1 dbGAP Illumina HiSeq 2c9108eb-c59a-4227-b650-56e61b3aa0ea a29bd0de-862b-4b95-95a7-93b321a3e6ac 6 47884004 47884004 C T SNP OPN5 NM_181744.1 human genbank 54_36p +1 reviewed silent c.912 p.I304 1.000 HMMPfam_7tm_1,PatternScan_OPSIN,superfamily_SSF81321 HMMPfam_7tm_1,PatternScan_G_PROTEIN_RECEP_F1_1,PatternScan_OPSIN,superfamily_SSF81321 - no_errors 86 2 2.27 46 22 32.35 NA NA NA +IMMP2L 0 genome.wustl.edu 37 7 110526705 110526705 + Missense_Mutation SNP T T C TCGA-AB-2899-03A-01W-0733-08 TCGA-AB-2899-11A-01W-0732-08 T T T C T T Verified Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq 1 dbGAP Illumina HiSeq 2c9108eb-c59a-4227-b650-56e61b3aa0ea a29bd0de-862b-4b95-95a7-93b321a3e6ac 7 110313941 110313941 T C SNP IMMP2L NM_032549.2 human genbank 54_36p -1 provisional missense c.352 p.I118V 1.000 superfamily_LexA/Signal peptidase,PatternScan_SPASE_I_3 superfamily_LexA/Signal peptidase,PatternScan_SPASE_I_3,HMMPfam_Peptidase_S24,PatternScan_ATPASE_ALPHA_BETA - no_errors 59 0 0.00 54 23 29.87 6 2 25.00 +UBN2 0 genome.wustl.edu 37 7 138969157 138969157 + Missense_Mutation SNP A A G TCGA-AB-2899-03A-01W-0733-08 TCGA-AB-2899-11A-01W-0732-08 A A A G A A Verified Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq 1 dbGAP Illumina HiSeq 2c9108eb-c59a-4227-b650-56e61b3aa0ea a29bd0de-862b-4b95-95a7-93b321a3e6ac 7 138619697 138619697 A G SNP UBN2 NM_173569.2 human genbank 54_36p +1 validated missense c.3257 p.N1086S 1.000 NULL PatternScan_TUBULIN - no_errors 80 1 1.23 44 30 40.54 15 16 51.61 +KCNH2 0 genome.wustl.edu 37 7 150644006 150644006 + Missense_Mutation SNP C C T TCGA-AB-2899-03A-01W-0733-08 TCGA-AB-2899-11A-01W-0732-08 C C C T C C Verified Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq 1 dbGAP Illumina HiSeq 2c9108eb-c59a-4227-b650-56e61b3aa0ea a29bd0de-862b-4b95-95a7-93b321a3e6ac 7 150274939 150274939 C T SNP KCNH2 NM_000238.2 human genbank 54_36p -1 reviewed missense c.3289 p.V1097I 0.872 NULL HMMPfam_cNMP_binding,HMMSmart_SM00100,HMMSmart_SM00086,HMMPfam_Ion_trans,HMMPfam_PAS,superfamily_cAMP-binding domain-like,superfamily_PYP-like sensor domain (PAS domain),superfamily_Voltage-gated potassium channels - no_errors 25 0 0.00 23 15 39.47 0 2 100.00 +OIT3 0 genome.wustl.edu 37 10 74673224 74673224 + Missense_Mutation SNP G G A TCGA-AB-2899-03A-01W-0733-08 TCGA-AB-2899-11A-01W-0732-08 G G G A G G Verified Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq 1 dbGAP Illumina HiSeq 2c9108eb-c59a-4227-b650-56e61b3aa0ea a29bd0de-862b-4b95-95a7-93b321a3e6ac 10 74343230 74343230 G A SNP OIT3 NM_152635.1 human genbank 54_36p +1 provisional missense c.949 p.D317N 0.436 HMMPfam_Zona_pellucida,HMMSmart_SM00241 PatternScan_ASX_HYDROXYL,HMMPfam_Zona_pellucida,HMMSmart_SM00241,HMMSmart_SM00179,HMMPfam_EGF,HMMSmart_SM00181,PatternScan_EGF_CA,superfamily_EGF/Laminin - no_errors 106 3 2.75 68 66 49.25 NA NA NA +IKZF4 0 genome.wustl.edu 37 12 56420653 56420653 + Silent SNP C C T TCGA-AB-2899-03A-01W-0733-08 TCGA-AB-2899-11A-01W-0732-08 C C C T C C Verified Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq 1 dbGAP Illumina HiSeq 2c9108eb-c59a-4227-b650-56e61b3aa0ea a29bd0de-862b-4b95-95a7-93b321a3e6ac 12 54706920 54706920 C T SNP IKZF4 NM_022465.3 human genbank 54_36p +1 validated silent c.375 p.S125 0.437 NULL HMMPfam_zf-C2H2,PatternScan_ZINC_FINGER_C2H2_1,HMMSmart_SM00355,superfamily_C2H2 and C2HC zinc fingers - no_errors 85 2 2.30 61 27 30.68 4 0 0.00 +SLC7A7 0 genome.wustl.edu 37 14 23242838 23242838 + Missense_Mutation SNP C C T TCGA-AB-2899-03A-01W-0733-08 TCGA-AB-2899-11A-01W-0732-08 C C C T C C Verified Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq 1 dbGAP Illumina HiSeq 2c9108eb-c59a-4227-b650-56e61b3aa0ea a29bd0de-862b-4b95-95a7-93b321a3e6ac 14 22312678 22312678 C T SNP SLC7A7 NM_003982.1 human genbank 54_36p -1 reviewed missense c.1517 p.R506Q 0.010 NULL PatternScan_AMINO_ACID_PERMEASE_1,HMMPfam_AA_permease - no_errors 193 3 1.52 117 99 45.83 39 37 48.68 +QRICH2 0 genome.wustl.edu 37 17 74274238 74274238 + Missense_Mutation SNP T T A TCGA-AB-2899-03A-01W-0733-08 TCGA-AB-2899-11A-01W-0732-08 T T T A T T Verified Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq 1 dbGAP Illumina HiSeq 2c9108eb-c59a-4227-b650-56e61b3aa0ea a29bd0de-862b-4b95-95a7-93b321a3e6ac 17 71785833 71785833 T A SNP QRICH2 NM_032134.1 human genbank 54_36p -1 provisional missense c.4451 p.D1484V 0.303 NULL NULL - no_errors 127 1 0.76 20 8 28.57 4 1 20.00 +SETBP1 0 genome.wustl.edu 37 18 42531913 42531913 + Missense_Mutation SNP G G A TCGA-AB-2899-03A-01W-0733-08 TCGA-AB-2899-11A-01W-0732-08 G G G A G G Verified Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq 1 dbGAP Illumina HiSeq 2c9108eb-c59a-4227-b650-56e61b3aa0ea a29bd0de-862b-4b95-95a7-93b321a3e6ac 18 40785911 40785911 G A SNP SETBP1 NM_015559.1 human genbank 54_36p +1 validated missense c.2446 p.G816S 1.000 NULL HMMPfam_AT_hook,HMMSmart_AT_hook - no_errors 81 5 5.81 60 46 43.40 15 19 55.88 +RUNX1 0 genome.wustl.edu 37 21 36252878 36252878 + Missense_Mutation SNP T T C TCGA-AB-2899-03A-01W-0733-08 TCGA-AB-2899-11A-01W-0732-08 T T T C T T Verified Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq 1 dbGAP Illumina HiSeq 2c9108eb-c59a-4227-b650-56e61b3aa0ea a29bd0de-862b-4b95-95a7-93b321a3e6ac 21 35174748 35174748 T C SNP RUNX1 NM_001754.2 human genbank 54_36p -1 reviewed missense c.484 p.R162G 1.000 superfamily_p53-like transcription factors,HMMPfam_Runt superfamily_p53-like transcription factors,HMMPfam_Runt,HMMPfam_RunxI - no_errors 42 0 0.00 8 16 66.67 18 327 94.78 +C7 0 genome.wustl.edu 37 5 40981538 40981540 + In_Frame_Del DEL GAA GAA - TCGA-AB-2899-03A-01W-0733-08 TCGA-AB-2899-11A-01W-0732-08 GAA GAA GAA - GAA GAA Verified Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq 1 dbGAP Illumina HiSeq 2c9108eb-c59a-4227-b650-56e61b3aa0ea a29bd0de-862b-4b95-95a7-93b321a3e6ac 5 41017295 41017297 GAA - DEL C7 NM_000587.2 human genbank 54_36p +1 reviewed in_frame_del c.2395_2397 p.E800in_frame_del 0.054:0.080:0.095 HMMSmart_FIMAC HMMPfam_Sushi,HMMSmart_CCP,HMMPfam_TSP_1,HMMSmart_TSP1,superfamily_TSP1,HMMPfam_MACPF,HMMSmart_MACPF,PatternScan_MAC_PERFORIN,HMMPfam_Ldl_recept_a,HMMSmart_LDLa,PatternScan_LDLRA_1,HMMSmart_FIMAC,PatternScan_EGF_1,PatternScan_EGF_2,superfamily_Complement_control_module,superfamily_SSF57196 - no_errors 0 6 6.74 0 38 33.04 0 0 0.00 +SMC1A 0 genome.wustl.edu 37 X 53423537 53423537 + Nonsense_Mutation SNP C C A TCGA-AB-2900-03A-01W-0733-08 TCGA-AB-2900-11A-01W-0732-08 C C C A C C Verified Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq 1 dbGAP Illumina HiSeq 70e697ae-f265-4598-b261-92c92622bf2d e553d484-56f9-4c88-b500-f4e4e295b394 X 53440262 53440262 C A SNP SMC1A NM_006306.2 human genbank 54_36p -1 reviewed nonsense c.2563 p.E855* 1.000 HMMPfam_SMC_N,superfamily_SSF52540 HMMPfam_SMC_N,HMMPfam_SMC_hinge,superfamily_SMC_hinge,superfamily_SSF52540 - no_errors 31 7 18.42 14 122 89.05 0 41 93.18 +SPEN 0 genome.wustl.edu 37 1 16203089 16203089 + Missense_Mutation SNP C C G TCGA-AB-2900-03A-01W-0733-08 TCGA-AB-2900-11A-01W-0732-08 C C C G C C Verified Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq 1 dbGAP Illumina HiSeq 70e697ae-f265-4598-b261-92c92622bf2d e553d484-56f9-4c88-b500-f4e4e295b394 1 16075676 16075676 C G SNP SPEN NM_015001.2 human genbank 54_36p +1 reviewed missense c.797 p.T266R 0.920 NULL HMMPfam_RRM_1,HMMSmart_RRM,HMMPfam_SPOC,superfamily_SPOC-like,superfamily_SSF54928 - no_errors 59 1 1.67 61 50 44.25 12 23 65.71 +KLHDC7A 0 genome.wustl.edu 37 1 18809481 18809481 + Missense_Mutation SNP C C T TCGA-AB-2900-03A-01W-0733-08 TCGA-AB-2900-11A-01W-0732-08 C C C T C C Verified Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq 1 dbGAP Illumina HiSeq 70e697ae-f265-4598-b261-92c92622bf2d e553d484-56f9-4c88-b500-f4e4e295b394 1 18682068 18682068 C T SNP KLHDC7A NM_152375.2 human genbank 54_36p +1 validated missense c.2006 p.T669M 1.000 superfamily_Gal_oxid_central HMMPfam_Kelch_1,HMMSmart_Kelch,superfamily_Gal_oxid_central - no_errors 11 0 0.00 35 14 28.00 NA NA NA +NOTCH2 0 genome.wustl.edu 37 1 120464979 120464979 + Missense_Mutation SNP A A T TCGA-AB-2900-03A-01W-0733-08 TCGA-AB-2900-11A-01W-0732-08 A A A T A A Verified Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq 1 dbGAP Illumina HiSeq 70e697ae-f265-4598-b261-92c92622bf2d e553d484-56f9-4c88-b500-f4e4e295b394 1 120266502 120266502 A T SNP NOTCH2 NM_024408.2 human genbank 54_36p -1 reviewed missense c.5093 p.I1698N 1.000 NULL PatternScan_ASX_HYDROXYL,HMMPfam_Notch,HMMSmart_NL,superfamily_Notch_region,HMMSmart_EGF_CA,HMMPfam_Ank,HMMSmart_ANK,superfamily_ANK,HMMPfam_EGF,HMMSmart_EGF,HMMPfam_NOD,HMMPfam_NODP,PatternScan_EGF_1,PatternScan_EGF_2,HMMPfam_EGF_CA,PatternScan_EGF_CA,superfamily_SSF57196 - no_errors 80 1 1.20 85 106 54.36 42 39 48.15 +GREB1 0 genome.wustl.edu 37 2 11741046 11741046 + Silent SNP C C T TCGA-AB-2900-03A-01W-0733-08 TCGA-AB-2900-11A-01W-0732-08 C C C T C C Verified Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq 1 dbGAP Illumina HiSeq 70e697ae-f265-4598-b261-92c92622bf2d e553d484-56f9-4c88-b500-f4e4e295b394 2 11658497 11658497 C T SNP GREB1 NM_014668.3 human genbank 54_36p +1 reviewed silent c.2454 p.F818 1.000 NULL NULL - no_errors 67 3 4.29 88 90 50.00 NA NA NA +SCTR 0 genome.wustl.edu 37 2 120204459 120204459 + Missense_Mutation SNP C C T TCGA-AB-2900-03A-01W-0733-08 TCGA-AB-2900-11A-01W-0732-08 C C C T C C Verified Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq 1 dbGAP Illumina HiSeq 70e697ae-f265-4598-b261-92c92622bf2d e553d484-56f9-4c88-b500-f4e4e295b394 2 119920929 119920929 C T SNP SCTR NM_002980.2 human genbank 54_36p -1 reviewed missense c.1016 p.R339H 0.995 HMMPfam_7tm_2,superfamily_Family A G protein-coupled receptor-like HMMPfam_7tm_2,HMMPfam_HRM,HMMSmart_SM00008,PatternScan_G_PROTEIN_RECEP_F2_1,PatternScan_G_PROTEIN_RECEP_F2_2,superfamily_Hormone receptor domain (HRM Pfam 02793),superfamily_Family A G protein-coupled receptor-like - no_errors 34 2 5.41 70 64 46.72 NA NA NA +EPGN 0 genome.wustl.edu 37 4 75174834 75174834 + Missense_Mutation SNP C C A TCGA-AB-2900-03A-01W-0733-08 TCGA-AB-2900-11A-01W-0732-08 C C C A C C Verified Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq 1 dbGAP Illumina HiSeq 70e697ae-f265-4598-b261-92c92622bf2d e553d484-56f9-4c88-b500-f4e4e295b394 4 75393698 75393698 C A SNP EPGN NM_001013442.1 human genbank 54_36p +1 provisional missense c.68 p.A23E 0.236 NULL HMMSmart_EGF,PatternScan_EGF_1,PatternScan_EGF_2,superfamily_SSF57196 - no_errors 82 4 4.65 92 89 48.63 0 1 100.00 +HADH 0 genome.wustl.edu 37 4 108948853 108948853 + Missense_Mutation SNP G G T TCGA-AB-2900-03A-01W-0733-08 TCGA-AB-2900-11A-01W-0732-08 G G G T G G Verified Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq 1 dbGAP Illumina HiSeq 70e697ae-f265-4598-b261-92c92622bf2d e553d484-56f9-4c88-b500-f4e4e295b394 4 109168302 109168302 G T SNP HADH NM_005327.2 human genbank 54_36p +1 reviewed missense c.646 p.G216W 1.000 HMMPfam_3HCDH,PatternScan_3HCDH,superfamily_6-phosphogluconate dehydrogenase C-terminal domain-like HMMPfam_3HCDH,HMMPfam_3HCDH_N,PatternScan_3HCDH,superfamily_6-phosphogluconate dehydrogenase C-terminal domain-like,superfamily_NAD(P)-binding Rossmann-fold domains - no_errors 127 11 7.86 218 210 48.50 42 42 50.00 +ANKRD55 0 genome.wustl.edu 37 5 55455693 55455693 + Silent SNP C C T TCGA-AB-2900-03A-01W-0733-08 TCGA-AB-2900-11A-01W-0732-08 C C C T C C Verified Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq 1 dbGAP Illumina HiSeq 70e697ae-f265-4598-b261-92c92622bf2d e553d484-56f9-4c88-b500-f4e4e295b394 5 55491450 55491450 C T SNP ANKRD55 NM_024669.1 human genbank 54_36p -1 validated silent c.450 p.S150 0.807 HMMPfam_Ank,HMMSmart_ANK,superfamily_ANK HMMPfam_Ank,HMMSmart_ANK,superfamily_ANK - no_errors 108 8 6.90 173 131 42.95 1 0 0.00 +PCDH1 0 genome.wustl.edu 37 5 141244061 141244061 + Missense_Mutation SNP A A G TCGA-AB-2900-03A-01W-0733-08 TCGA-AB-2900-11A-01W-0732-08 A A A G A A Verified Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq 1 dbGAP Illumina HiSeq 70e697ae-f265-4598-b261-92c92622bf2d e553d484-56f9-4c88-b500-f4e4e295b394 5 141224245 141224245 A G SNP PCDH1 NM_032420.3 human genbank 54_36p -1 reviewed missense c.1835 p.F612S 1.000 superfamily_Cadherin HMMPfam_Cadherin,HMMSmart_CA,PatternScan_CADHERIN_1,HMMPfam_Cadherin_2,HMMPfam_Protocadherin,superfamily_Cadherin,PatternScan_GREAB_2 - no_errors 201 10 4.67 257 195 42.58 NA NA NA +GABRG2 0 genome.wustl.edu 37 5 161576185 161576185 + Missense_Mutation SNP G G T TCGA-AB-2900-03A-01W-0733-08 TCGA-AB-2900-11A-01W-0732-08 G G G T G G Verified Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq 1 dbGAP Illumina HiSeq 70e697ae-f265-4598-b261-92c92622bf2d e553d484-56f9-4c88-b500-f4e4e295b394 5 161508763 161508763 G T SNP GABRG2 NM_198904.3 human genbank 54_36p +1 reviewed missense c.994 p.V332F 1.000 HMMPfam_Neur_chan_memb,superfamily_Neurotransmitter-gated ion-channel transmembrane pore HMMPfam_Neur_chan_memb,superfamily_Neurotransmitter-gated ion-channel transmembrane pore,HMMPfam_Neur_chan_LBD,superfamily_Nicotinic receptor ligand binding domain-like,PatternScan_NEUROTR_ION_CHANNEL - no_errors 93 7 7.00 118 93 44.08 NA NA NA +GRIK2 0 genome.wustl.edu 37 6 102069829 102069829 + Missense_Mutation SNP A A G TCGA-AB-2900-03A-01W-0733-08 TCGA-AB-2900-11A-01W-0732-08 A A A G A A Verified Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq 1 dbGAP Illumina HiSeq 70e697ae-f265-4598-b261-92c92622bf2d e553d484-56f9-4c88-b500-f4e4e295b394 6 102176522 102176522 A G SNP GRIK2 NM_021956.3 human genbank 54_36p +1 reviewed missense c.121 p.I41V 1.000 superfamily_Periplasmic binding protein-like I HMMPfam_Lig_chan,HMMSmart_SM00079,HMMPfam_ANF_receptor,HMMPfam_Lig_chan-Glu_bd,superfamily_Periplasmic binding protein-like I,superfamily_Periplasmic binding protein-like II - no_errors 87 2 2.22 139 99 40.91 NA NA NA +KCNT1 0 genome.wustl.edu 37 9 138642020 138642020 + Missense_Mutation SNP T T A TCGA-AB-2900-03A-01W-0733-08 TCGA-AB-2900-11A-01W-0732-08 T T T A T T Verified Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq 1 dbGAP Illumina HiSeq 70e697ae-f265-4598-b261-92c92622bf2d e553d484-56f9-4c88-b500-f4e4e295b394 9 137781841 137781841 T A SNP KCNT1 NM_020822.1 human genbank 54_36p +1 provisional missense c.331 p.S111T 1.000 NULL HMMPfam_BK_channel_a,HMMPfam_Ion_trans_2,superfamily_NAD(P)-bd,superfamily_SSF81324 - no_errors 49 2 3.85 49 22 30.56 NA NA NA +LRP5 0 genome.wustl.edu 37 11 68115417 68115417 + Missense_Mutation SNP C C T TCGA-AB-2900-03A-01W-0733-08 TCGA-AB-2900-11A-01W-0732-08 C C C T C C Verified Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq 1 dbGAP Illumina HiSeq 70e697ae-f265-4598-b261-92c92622bf2d e553d484-56f9-4c88-b500-f4e4e295b394 11 67871993 67871993 C T SNP LRP5 NM_002335.2 human genbank 54_36p +1 validated missense c.194 p.A65V 1.000 HMMSmart_SM00135,superfamily_YWTD domain HMMPfam_Ldl_recept_b,HMMSmart_SM00135,HMMPfam_Ldl_recept_a,HMMSmart_SM00192,PatternScan_LDLRA_1,superfamily_LDL receptor-like module,HMMPfam_EGF,HMMSmart_SM00181,superfamily_EGF/Laminin,superfamily_YWTD domain - no_errors 62 1 1.59 46 45 48.91 2 0 0.00 +FLT3 0 genome.wustl.edu 37 13 28592642 28592642 + Missense_Mutation SNP C C A rs121913488 TCGA-AB-2900-03A-01W-0733-08 TCGA-AB-2900-11A-01W-0732-08 C C C A C C Verified Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq 1 dbGAP Illumina HiSeq 70e697ae-f265-4598-b261-92c92622bf2d e553d484-56f9-4c88-b500-f4e4e295b394 13 27490642 27490642 C A SNP FLT3 NM_004119.2 human genbank 54_36p -1 reviewed missense c.2503 p.D835Y 1.000 HMMPfam_Pkinase_Tyr,HMMSmart_TyrKc,superfamily_Kinase_like HMMPfam_Pkinase_Tyr,HMMSmart_TyrKc,PatternScan_RECEPTOR_TYR_KIN_III,PatternScan_PROTEIN_KINASE_TYR,superfamily_Kinase_like,HMMPfam_ig,PatternScan_PROTEIN_KINASE_ATP,superfamily_SSF48726 - no_errors 87 5 5.43 94 57 37.50 300 252 45.57 +SPTB 0 genome.wustl.edu 37 14 65237713 65237713 + Silent SNP C C A TCGA-AB-2900-03A-01W-0733-08 TCGA-AB-2900-11A-01W-0732-08 C C C A C C Verified Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq 1 dbGAP Illumina HiSeq 70e697ae-f265-4598-b261-92c92622bf2d e553d484-56f9-4c88-b500-f4e4e295b394 14 64307466 64307466 C A SNP SPTB NM_001024858.4 human genbank 54_36p -1 validated silent c.5688 p.R1896 1.000 HMMPfam_Spectrin,HMMSmart_SPEC,superfamily_Spectrin PatternScan_ACTININ_1,PatternScan_ACTININ_2,HMMPfam_CH,HMMSmart_CH,HMMPfam_PH,HMMSmart_PH,HMMPfam_Spectrin,superfamily_Calponin-homology,HMMSmart_SPEC,superfamily_Spectrin,superfamily_SSF50729 - no_errors 26 0 0.00 95 54 36.24 0 1 100.00 +LOC90586 0 genome.wustl.edu 37 17 41020862 41020862 + RNA SNP G G A TCGA-AB-2900-03A-01W-0733-08 TCGA-AB-2900-11A-01W-0732-08 G G G A G G Verified Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq 1 dbGAP Illumina HiSeq 70e697ae-f265-4598-b261-92c92622bf2d e553d484-56f9-4c88-b500-f4e4e295b394 17 38274388 38274388 G A SNP LOC90586 NR_002773.1 human genbank 54_36p +1 provisional rna NULL NULL 0.961 - - - pseudogene 36 1 2.70 44 28 37.84 NA NA NA +ANKRD12 0 genome.wustl.edu 37 18 9256666 9256666 + Missense_Mutation SNP A A G TCGA-AB-2900-03A-01W-0733-08 TCGA-AB-2900-11A-01W-0732-08 A A A G A A Verified Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq 1 dbGAP Illumina HiSeq 70e697ae-f265-4598-b261-92c92622bf2d e553d484-56f9-4c88-b500-f4e4e295b394 18 9246666 9246666 A G SNP ANKRD12 NM_015208.1 human genbank 54_36p +1 validated missense c.3401 p.K1134R 0.977 superfamily_Ankyrin repeat HMMPfam_Ank,HMMSmart_SM00248,superfamily_Ankyrin repeat - no_errors 69 3 4.11 143 131 47.64 16 10 38.46 +CECR2 0 genome.wustl.edu 37 22 17990917 17990917 + Missense_Mutation SNP G G A TCGA-AB-2900-03A-01W-0733-08 TCGA-AB-2900-11A-01W-0732-08 G G G A G G Verified Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq 1 dbGAP Illumina HiSeq 70e697ae-f265-4598-b261-92c92622bf2d e553d484-56f9-4c88-b500-f4e4e295b394 22 16370917 16370917 G A SNP CECR2 ENST00000400585 human ensembl 54_36p +1 known missense c.877 p.V293I 0.987 NULL HMMPfam_Bromodomain,HMMSmart_BROMO,superfamily_Bromodomain,PatternScan_BROMODOMAIN_1 - no_errors 161 7 4.09 113 92 44.66 NA NA NA +NPM1 0 genome.wustl.edu 37 5 170837547 170837548 + Frame_Shift_Ins INS - - CGCG TCGA-AB-2900-03A-01W-0733-08 TCGA-AB-2900-11A-01W-0732-08 - - - CGCG - - Verified Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq 1 dbGAP Illumina HiSeq 70e697ae-f265-4598-b261-92c92622bf2d e553d484-56f9-4c88-b500-f4e4e295b394 5 170770152 170770153 - CGCG INS NPM1 NM_002520.1 human genbank 54_36p +1 validated frame_shift_ins c.863_864 p.W288fs 1.000:1.000 NULL HMMPfam_Nucleoplasmin,superfamily_Nucleoplasmin-like core domain - no_errors NA NA NA NA NA NA NA NA NA +CEBPA 0 genome.wustl.edu 37 19 33792464 33792465 + Frame_Shift_Ins INS - - G TCGA-AB-2900-03A-01W-0733-08 TCGA-AB-2900-11A-01W-0732-08 - - - G - - Verified Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq 1 dbGAP Illumina HiSeq 70e697ae-f265-4598-b261-92c92622bf2d e553d484-56f9-4c88-b500-f4e4e295b394 19 38484304 38484305 - G INS CEBPA NM_004364.3 human genbank 54_36p -1 reviewed frame_shift_ins c.857_856 p.R286fs 1.000:1.000 HMMSmart_BRLZ,HMMPfam_bZIP_2 HMMSmart_BRLZ,PatternScan_BZIP_BASIC,HMMPfam_bZIP_2 - no_errors 9 0 0.00 31 15 32.61 44 21 32.31 +RBMS1 0 genome.wustl.edu 37 2 161133832 161133832 + Silent SNP C C T TCGA-AB-2901-03A-01W-0733-08 TCGA-AB-2901-11A-01W-0732-08 C C C T C C Verified Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq 1 dbGAP Illumina HiSeq bac6a6d2-8c40-43cd-ab4c-16d3f8a06eb6 22f3f166-41a7-4058-a315-d72e1d7becd6 2 160842078 160842078 C T SNP RBMS1 NM_016836.4 human genbank 54_36p -1 reviewed silent c.1125 p.T375 0.019 NULL HMMPfam_RRM_1,HMMSmart_SM00360,superfamily_RNA-binding domain RBD - no_errors 120 10 7.63 60 60 50.00 8 9 52.94 +LOC100131482 0 genome.wustl.edu 37 2 180679349 180679349 + Silent SNP T T C TCGA-AB-2901-03A-01W-0733-08 TCGA-AB-2901-11A-01W-0732-08 T T T C T T Verified Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq 1 dbGAP Illumina HiSeq bac6a6d2-8c40-43cd-ab4c-16d3f8a06eb6 22f3f166-41a7-4058-a315-d72e1d7becd6 2 180387594 180387594 T C SNP LOC100131482 XM_001722616.1 human genbank 54_36p +1 model silent c.372 p.N124 1.000 HMMPfam_DIM1,superfamily_Thioredoxin-like HMMPfam_DIM1,superfamily_Thioredoxin-like - no_errors 232 5 2.10 172 133 43.61 NA NA NA +IDH1 0 genome.wustl.edu 37 2 209113113 209113113 + Missense_Mutation SNP G G A rs121913499 TCGA-AB-2901-03A-01W-0733-08 TCGA-AB-2901-11A-01W-0732-08 G G G A G G Verified Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq 1 dbGAP Illumina HiSeq bac6a6d2-8c40-43cd-ab4c-16d3f8a06eb6 22f3f166-41a7-4058-a315-d72e1d7becd6 2 208821358 208821358 G A SNP IDH1 NM_005896.2 human genbank 54_36p -1 reviewed missense c.394 p.R132C 1.000 HMMPfam_Iso_dh,superfamily_Isocitrate/Isopropylmalate dehydrogenase-like HMMPfam_Iso_dh,PatternScan_IDH_IMDH,superfamily_Isocitrate/Isopropylmalate dehydrogenase-like - no_errors 114 5 4.20 63 59 48.36 81 70 46.36 +HECW1 0 genome.wustl.edu 37 7 43591889 43591889 + Silent SNP G G A TCGA-AB-2901-03A-01W-0733-08 TCGA-AB-2901-11A-01W-0732-08 G G G A G G Verified Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq 1 dbGAP Illumina HiSeq bac6a6d2-8c40-43cd-ab4c-16d3f8a06eb6 22f3f166-41a7-4058-a315-d72e1d7becd6 7 43558414 43558414 G A SNP HECW1 NM_015052.3 human genbank 54_36p +1 validated silent c.4464 p.A1488 0.315 HMMPfam_HECT,HMMSmart_HECTc,superfamily_HECT HMMPfam_C2,HMMSmart_C2,HMMPfam_HECT,HMMSmart_HECTc,superfamily_HECT,HMMPfam_WW,HMMSmart_WW,PatternScan_WW_DOMAIN_1,superfamily_WW_Rsp5_WWP,superfamily_C2_CaLB - no_errors 297 18 5.61 177 142 44.10 NA NA NA +OR52E8 0 genome.wustl.edu 37 11 5878755 5878755 + Missense_Mutation SNP T T C TCGA-AB-2901-03A-01W-0733-08 TCGA-AB-2901-11A-01W-0732-08 T T T C T T Verified Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq 1 dbGAP Illumina HiSeq bac6a6d2-8c40-43cd-ab4c-16d3f8a06eb6 22f3f166-41a7-4058-a315-d72e1d7becd6 11 5835331 5835331 T C SNP OR52E8 NM_001005168.1 human genbank 54_36p -1 provisional missense c.178 p.S60G 0.746 HMMPfam_7tm_1,superfamily_SSF81321 HMMPfam_7tm_1,PatternScan_G_PROTEIN_RECEP_F1_1,superfamily_SSF81321 - no_errors 166 8 4.60 121 86 41.55 NA NA NA +AGBL2 0 genome.wustl.edu 37 11 47712055 47712055 + Missense_Mutation SNP C C A TCGA-AB-2901-03A-01W-0733-08 TCGA-AB-2901-11A-01W-0732-08 C C C A C C Verified Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq 1 dbGAP Illumina HiSeq bac6a6d2-8c40-43cd-ab4c-16d3f8a06eb6 22f3f166-41a7-4058-a315-d72e1d7becd6 11 47668631 47668631 C A SNP AGBL2 NM_024783.2 human genbank 54_36p -1 validated missense c.1204 p.D402Y 0.729 superfamily_Zn-dependent exopeptidases HMMPfam_Peptidase_M14,superfamily_Zn-dependent exopeptidases - no_errors 545 18 3.18 197 165 45.08 3 0 0.00 +LYRM5 0 genome.wustl.edu 37 12 25357224 25357224 + Missense_Mutation SNP C C T TCGA-AB-2901-03A-01W-0733-08 TCGA-AB-2901-11A-01W-0732-08 C C C T C C Verified Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq 1 dbGAP Illumina HiSeq bac6a6d2-8c40-43cd-ab4c-16d3f8a06eb6 22f3f166-41a7-4058-a315-d72e1d7becd6 12 25248491 25248491 C T SNP LYRM5 NM_001001660.2 human genbank 54_36p +1 validated missense c.251 p.S84L 0.130 NULL HMMPfam_Complex1_LYR - no_errors 255 8 3.02 179 94 34.06 22 18 45.00 +RYR3 0 genome.wustl.edu 37 15 34123246 34123246 + Missense_Mutation SNP T T A TCGA-AB-2901-03A-01W-0733-08 TCGA-AB-2901-11A-01W-0732-08 T T T A T T Verified Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq 1 dbGAP Illumina HiSeq bac6a6d2-8c40-43cd-ab4c-16d3f8a06eb6 22f3f166-41a7-4058-a315-d72e1d7becd6 15 31910538 31910538 T A SNP RYR3 NM_001036.3 human genbank 54_36p +1 validated missense c.11417 p.L3806Q 0.980 HMMPfam_RIH_assoc HMMPfam_RYDR_ITPR,HMMPfam_RyR,HMMPfam_MIR,superfamily_MIR domain (Pfam 02815),HMMPfam_SPRY,HMMPfam_Ion_trans,HMMPfam_RR_TM4-6,HMMPfam_RIH_assoc,HMMPfam_Ins145_P3_rec,HMMSmart_SM00472,HMMPfam_efhand,HMMSmart_SM00449,superfamily_EF-hand - no_errors 162 19 10.38 110 107 48.64 NA NA NA +C16orf57 0 genome.wustl.edu 37 16 58051273 58051273 + Missense_Mutation SNP C C G TCGA-AB-2901-03A-01W-0733-08 TCGA-AB-2901-11A-01W-0732-08 C C C G C C Verified Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq 1 dbGAP Illumina HiSeq bac6a6d2-8c40-43cd-ab4c-16d3f8a06eb6 22f3f166-41a7-4058-a315-d72e1d7becd6 16 56608774 56608774 C G SNP C16orf57 NM_024598.2 human genbank 54_36p +1 validated missense c.539 p.A180G 0.769 HMMPfam_HVSL HMMPfam_HVSL - no_errors 434 18 3.90 116 90 43.69 31 24 43.64 +AP1S3 0 genome.wustl.edu 37 2 224640648 224640648 + Silent SNP G G A TCGA-AB-2903-03A-01W-0761-09 TCGA-AB-2903-11A-01W-0732-08 G G G A G G Verified Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq 1 dbGAP Illumina HiSeq dfa1b9d8-2350-47c4-8e24-999a0fdc367a 5948c190-d1f4-46e3-8797-fde42703d879 2 224348892 224348892 G A SNP AP1S3 NM_001039569.1 human genbank 54_36p -1 validated silent c.261 p.Y87 1.000 HMMPfam_Clat_adaptor_s,superfamily_SNARE-like HMMPfam_Clat_adaptor_s,PatternScan_CLAT_ADAPTOR_S,superfamily_SNARE-like - no_errors 389 39 9.07 330 113 25.17 6 2 25.00 +NPM1 0 genome.wustl.edu 37 5 170837543 170837544 + Frame_Shift_Ins INS - - TCTG TCGA-AB-2903-03A-01W-0761-09 TCGA-AB-2903-11A-01W-0732-08 - - - TCTG - - Verified Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq 1 dbGAP Illumina HiSeq dfa1b9d8-2350-47c4-8e24-999a0fdc367a 5948c190-d1f4-46e3-8797-fde42703d879 5 170770148 170770149 - TCTG INS NPM1 NM_002520.1 human genbank 54_36p +1 validated frame_shift_ins c.859_860 p.W288fs 1.000:1.000 NULL HMMPfam_Nucleoplasmin,superfamily_Nucleoplasmin-like core domain - no_errors NA NA NA NA NA NA NA NA NA +PLEKHG5 0 genome.wustl.edu 37 1 6531119 6531119 + Silent SNP C C T TCGA-AB-2904-03A-01W-0732-08 TCGA-AB-2904-11A-01W-0732-08 C C C T C C Verified Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq 1 dbGAP Illumina HiSeq 13a3cb00-5cd7-4a71-a838-58ff943316a2 d4015d83-cbbf-4411-bd2d-3125cb0de849 1 6453706 6453706 C T SNP PLEKHG5 NM_198681.1 human genbank 54_36p -1 reviewed silent c.1554 p.E518 1.000 HMMPfam_RhoGEF,HMMSmart_RhoGEF,superfamily_DH-domain HMMPfam_RhoGEF,HMMSmart_RhoGEF,superfamily_DH-domain,HMMPfam_PH,HMMSmart_PH,superfamily_SSF50729 - no_errors 15 0 0.00 11 14 56.00 1 3 75.00 +KCNN3 0 genome.wustl.edu 37 1 154744661 154744661 + Missense_Mutation SNP A A T TCGA-AB-2904-03A-01W-0732-08 TCGA-AB-2904-11A-01W-0732-08 A A A T A A Verified Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq 1 dbGAP Illumina HiSeq 13a3cb00-5cd7-4a71-a838-58ff943316a2 d4015d83-cbbf-4411-bd2d-3125cb0de849 1 153011285 153011285 A T SNP KCNN3 NM_002249.4 human genbank 54_36p -1 reviewed missense c.1238 p.L413Q 1.000 superfamily_Voltage-gated potassium channels HMMPfam_CaMBD,superfamily_Small-conductance potassium channel,HMMPfam_SK_channel,HMMPfam_Ion_trans_2,superfamily_Voltage-gated potassium channels - no_errors 53 0 0.00 75 41 35.34 NA NA NA +C4BPB 0 genome.wustl.edu 37 1 207263773 207263773 + Missense_Mutation SNP C C T TCGA-AB-2904-03A-01W-0732-08 TCGA-AB-2904-11A-01W-0732-08 C C C T C C Verified Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq 1 dbGAP Illumina HiSeq 13a3cb00-5cd7-4a71-a838-58ff943316a2 d4015d83-cbbf-4411-bd2d-3125cb0de849 1 205330396 205330396 C T SNP C4BPB NM_000716.3 human genbank 54_36p +1 reviewed missense c.179 p.T60I 0.000 HMMPfam_Sushi,HMMSmart_SM00032,superfamily_Complement control module/SCR domain HMMPfam_Sushi,HMMSmart_SM00032,superfamily_Complement control module/SCR domain - no_errors 150 0 0.00 149 100 40.00 NA NA NA +OR2AJ1 0 genome.wustl.edu 37 1 248097651 248097651 + Missense_Mutation SNP G G T TCGA-AB-2904-03A-01W-0732-08 TCGA-AB-2904-11A-01W-0732-08 G G G T G G Verified Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq 1 dbGAP Illumina HiSeq 13a3cb00-5cd7-4a71-a838-58ff943316a2 d4015d83-cbbf-4411-bd2d-3125cb0de849 1 246164274 246164274 G T SNP OR2AJ1 ENST00000318244 human ensembl 54_36p +1 known missense c.581 p.R194L 0.002 HMMPfam_7tm_1,superfamily_SSF81321 HMMPfam_7tm_1,PatternScan_G_PROTEIN_RECEP_F1_1,superfamily_SSF81321 - no_errors 208 0 0.00 221 117 34.41 NA NA NA +CAD 0 genome.wustl.edu 37 2 27466086 27466086 + Silent SNP C C T TCGA-AB-2904-03A-01W-0732-08 TCGA-AB-2904-11A-01W-0732-08 C C C T C C Verified Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq 1 dbGAP Illumina HiSeq 13a3cb00-5cd7-4a71-a838-58ff943316a2 d4015d83-cbbf-4411-bd2d-3125cb0de849 2 27319590 27319590 C T SNP CAD NM_004341.3 human genbank 54_36p +1 reviewed silent c.6501 p.L2167 1.000 superfamily_Asp/Orn_carbamoyltranf,HMMPfam_OTCace HMMPfam_GATase,PatternScan_DIHYDROOROTASE_1,PatternScan_DIHYDROOROTASE_2,HMMPfam_CPSase_sm_chain,superfamily_CP_synthsmall,HMMPfam_CPSase_L_D2,PatternScan_CPSASE_1,PatternScan_CPSASE_2,HMMPfam_CPSase_L_D3,superfamily_CarbamoylP_synth_lsu_oligo,HMMPfam_CPSase_L_chain,PatternScan_CARBAMOYLTRANSFERASE,superfamily_Asp/Orn_carbamoyltranf,HMMPfam_OTCace,HMMPfam_OTCace_N,HMMPfam_Amidohydro_1,superfamily_Metalo_hydrolase,HMMPfam_MGS,superfamily_PreATP-grasp-like,superfamily_SSF51556,superfamily_SSF52317,superfamily_SSF52335,superfamily_SSF56059 - no_errors 90 0 0.00 102 63 37.50 35 57 61.96 +NCKAP5 0 genome.wustl.edu 37 2 133721301 133721301 + Missense_Mutation SNP C C T TCGA-AB-2904-03A-01W-0732-08 TCGA-AB-2904-11A-01W-0732-08 C C C T C C Verified Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq 1 dbGAP Illumina HiSeq 13a3cb00-5cd7-4a71-a838-58ff943316a2 d4015d83-cbbf-4411-bd2d-3125cb0de849 2 133437771 133437771 C T SNP NAP5 NM_207363.2 human genbank 54_36p -1 validated missense c.571 p.A191T 1.000 NULL NULL - no_errors 239 0 0.00 186 79 29.26 NA NA NA +SNED1 0 genome.wustl.edu 37 2 242004814 242004814 + Missense_Mutation SNP T T A TCGA-AB-2904-03A-01W-0732-08 TCGA-AB-2904-11A-01W-0732-08 T T T A T T Verified Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq 1 dbGAP Illumina HiSeq 13a3cb00-5cd7-4a71-a838-58ff943316a2 d4015d83-cbbf-4411-bd2d-3125cb0de849 2 241653487 241653487 T A SNP SNED1 NM_001080437.1 human genbank 54_36p +1 provisional missense c.2813 p.L938H 0.986 HMMPfam_fn3,HMMSmart_SM00060,superfamily_Fibronectin type III PatternScan_ASX_HYDROXYL,HMMPfam_Sushi,HMMSmart_SM00032,HMMSmart_SM00179,HMMPfam_NIDO,HMMSmart_SM00539,HMMPfam_fn3,HMMSmart_SM00060,HMMPfam_EGF,HMMSmart_SM00181,superfamily_Fibronectin type III,superfamily_Concanavalin A-like lectins/glucanases,PatternScan_EGF_1,PatternScan_EGF_2,HMMPfam_EGF_2,superfamily_Complement control module/SCR domain,PatternScan_EGF_CA,superfamily_EGF/Laminin - no_errors 9 0 0.00 23 7 23.33 1 1 50.00 +KCNH8 0 genome.wustl.edu 37 3 19498262 19498262 + Missense_Mutation SNP A A C TCGA-AB-2904-03A-01W-0732-08 TCGA-AB-2904-11A-01W-0732-08 A A A C A A Verified Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq 1 dbGAP Illumina HiSeq 13a3cb00-5cd7-4a71-a838-58ff943316a2 d4015d83-cbbf-4411-bd2d-3125cb0de849 3 19473266 19473266 A C SNP KCNH8 NM_144633.2 human genbank 54_36p +1 reviewed missense c.1828 p.K610Q 1.000 HMMPfam_cNMP_binding,HMMSmart_cNMP,superfamily_cNMP_binding HMMPfam_cNMP_binding,HMMSmart_cNMP,HMMSmart_PAC,HMMPfam_Ion_trans,HMMPfam_PAS,PatternScan_CNMP_BINDING_1,PatternScan_CNMP_BINDING_2,superfamily_cNMP_binding,superfamily_SSF55785,superfamily_SSF81324 - no_errors 115 0 0.00 125 81 39.13 NA NA NA +NPNT 0 genome.wustl.edu 37 4 106863541 106863541 + Missense_Mutation SNP A A T TCGA-AB-2904-03A-01W-0732-08 TCGA-AB-2904-11A-01W-0732-08 A A A T A A Verified Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq 1 dbGAP Illumina HiSeq 13a3cb00-5cd7-4a71-a838-58ff943316a2 d4015d83-cbbf-4411-bd2d-3125cb0de849 4 107082990 107082990 A T SNP NPNT NM_001033047.1 human genbank 54_36p +1 validated missense c.841 p.T281S 0.984 NULL PatternScan_ASX_HYDROXYL,HMMPfam_MAM,HMMSmart_SM00137,HMMSmart_SM00179,HMMSmart_SM00181,superfamily_Growth factor receptor domain,PatternScan_EGF_1,PatternScan_EGF_2,HMMPfam_EGF_CA,HMMPfam_EGF_2,PatternScan_EGF_CA,superfamily_EGF/Laminin - no_errors 166 0 0.00 119 52 30.23 NA NA NA +PPWD1 0 genome.wustl.edu 37 5 64875362 64875362 + Silent SNP T T G TCGA-AB-2904-03A-01W-0732-08 TCGA-AB-2904-11A-01W-0732-08 T T T G T T Verified Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq 1 dbGAP Illumina HiSeq 13a3cb00-5cd7-4a71-a838-58ff943316a2 d4015d83-cbbf-4411-bd2d-3125cb0de849 5 64911118 64911118 T G SNP PPWD1 NM_015342.2 human genbank 54_36p +1 validated silent c.1272 p.S424 0.994 superfamily_WD40_like HMMSmart_WD40,HMMPfam_Pro_isomerase,PatternScan_CSA_PPIASE_1,superfamily_WD40_like,superfamily_CSA_PPIase,PatternScan_WD_REPEATS_1,HMMPfam_WD40 - no_errors 116 0 0.00 112 55 32.54 55 38 40.86 +PCDHGA5 0 genome.wustl.edu 37 5 140745018 140745018 + Missense_Mutation SNP G G T TCGA-AB-2904-03A-01W-0732-08 TCGA-AB-2904-11A-01W-0732-08 G G G T G G Verified Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq 1 dbGAP Illumina HiSeq 13a3cb00-5cd7-4a71-a838-58ff943316a2 d4015d83-cbbf-4411-bd2d-3125cb0de849 5 140725202 140725202 G T SNP PCDHGA5 NM_018918.2 human genbank 54_36p +1 reviewed missense c.1121 p.G374V 0.001 HMMPfam_Cadherin,HMMSmart_SM00112,superfamily_Cadherin-like HMMPfam_Cadherin,HMMSmart_SM00112,PatternScan_CADHERIN_1,HMMPfam_Cadherin_2,superfamily_Cadherin-like - no_errors 80 1 1.20 31 41 56.94 NA NA NA +BMP6 0 genome.wustl.edu 37 6 7845456 7845456 + Missense_Mutation SNP G G A TCGA-AB-2904-03A-01W-0732-08 TCGA-AB-2904-11A-01W-0732-08 G G G A G G Verified Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq 1 dbGAP Illumina HiSeq 13a3cb00-5cd7-4a71-a838-58ff943316a2 d4015d83-cbbf-4411-bd2d-3125cb0de849 6 7790455 7790455 G A SNP BMP6 NM_001718.4 human genbank 54_36p +1 reviewed missense c.748 p.V250M 1.000 HMMPfam_TGFb_propeptide HMMPfam_TGFb_propeptide,HMMPfam_TGF_beta,HMMSmart_TGFB,PatternScan_TGF_BETA_1,superfamily_SSF57501 - no_errors 194 0 0.00 150 98 39.20 3 0 0.00 +WDR27 0 genome.wustl.edu 37 6 170033132 170033132 + Missense_Mutation SNP C C T TCGA-AB-2904-03A-01W-0732-08 TCGA-AB-2904-11A-01W-0732-08 C C C T C C Verified Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq 1 dbGAP Illumina HiSeq 13a3cb00-5cd7-4a71-a838-58ff943316a2 d4015d83-cbbf-4411-bd2d-3125cb0de849 6 169775057 169775057 C T SNP WDR27 NM_182552.3 human genbank 54_36p -1 validated missense c.2134 p.V712M 0.002 HMMSmart_SM00320,superfamily_WD40 repeat-like HMMSmart_SM00320,superfamily_WD40 repeat-like,HMMPfam_WD40 - no_errors 43 0 0.00 62 40 38.83 2 2 50.00 +PKHD1L1 0 genome.wustl.edu 37 8 110523048 110523048 + Missense_Mutation SNP G G A TCGA-AB-2904-03A-01W-0732-08 TCGA-AB-2904-11A-01W-0732-08 G G G A G G Verified Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq 1 dbGAP Illumina HiSeq 13a3cb00-5cd7-4a71-a838-58ff943316a2 d4015d83-cbbf-4411-bd2d-3125cb0de849 8 110592224 110592224 G A SNP PKHD1L1 NM_177531.4 human genbank 54_36p +1 validated missense c.11438 p.R3813K 1.000 NULL HMMPfam_TIG,HMMSmart_SM00429,HMMSmart_SM00710,superfamily_Cupredoxins,superfamily_Pectin lyase-like,HMMSmart_SM00758,superfamily_E set domains,HMMPfam_G8,superfamily_Anthrax protective antigen - no_errors 177 0 0.00 203 198 49.13 NA NA NA +C9orf93 0 genome.wustl.edu 37 9 15744617 15744617 + Missense_Mutation SNP G G A TCGA-AB-2904-03A-01W-0732-08 TCGA-AB-2904-11A-01W-0732-08 G G G A G G Verified Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq 1 dbGAP Illumina HiSeq 13a3cb00-5cd7-4a71-a838-58ff943316a2 d4015d83-cbbf-4411-bd2d-3125cb0de849 9 15734617 15734617 G A SNP C9orf93 NM_173550.2 human genbank 54_36p +1 predicted missense c.2396 p.R799H 0.887 NULL NULL - no_errors 163 0 0.00 158 67 29.52 15 6 28.57 +CSTF2T 0 genome.wustl.edu 37 10 53458696 53458696 + Missense_Mutation SNP G G T TCGA-AB-2904-03A-01W-0732-08 TCGA-AB-2904-11A-01W-0732-08 G G G T G G Verified Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq 1 dbGAP Illumina HiSeq 13a3cb00-5cd7-4a71-a838-58ff943316a2 d4015d83-cbbf-4411-bd2d-3125cb0de849 10 53128702 53128702 G T SNP CSTF2T NM_015235.2 human genbank 54_36p -1 validated missense c.614 p.S205Y 0.993 NULL HMMPfam_RRM_1,HMMSmart_SM00360,superfamily_RNA-binding domain RBD - no_errors 101 1 0.98 137 79 36.57 17 9 34.62 +LOC401648 0 genome.wustl.edu 37 10 104975971 104975971 + RNA SNP A A G TCGA-AB-2904-03A-01W-0732-08 TCGA-AB-2904-11A-01W-0732-08 A A A G A A Verified Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq 1 dbGAP Illumina HiSeq 13a3cb00-5cd7-4a71-a838-58ff943316a2 d4015d83-cbbf-4411-bd2d-3125cb0de849 10 104965961 104965961 A G SNP LOC401648 XR_017482.1 human genbank 54_36p +1 model rna NULL NULL 0.999 - - - pseudogene 46 8 14.81 26 37 58.73 15 0 0.00 +DDX11 0 genome.wustl.edu 37 12 31245812 31245812 + Silent SNP C C T TCGA-AB-2904-03A-01W-0732-08 TCGA-AB-2904-11A-01W-0732-08 C C C T C C Verified Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq 1 dbGAP Illumina HiSeq 13a3cb00-5cd7-4a71-a838-58ff943316a2 d4015d83-cbbf-4411-bd2d-3125cb0de849 12 31137079 31137079 C T SNP DDX11 NM_152438.2 human genbank 54_36p +1 reviewed silent c.1275 p.Y425 0.997 HMMSmart_SM00488 HMMSmart_SM00488,HMMSmart_SM00491,HMMPfam_DEAD_2,superfamily_P-loop containing nucleoside triphosphate hydrolases - no_errors 61 0 0.00 72 46 38.98 53 18 25.35 +SPG11 0 genome.wustl.edu 37 15 44955823 44955823 + Missense_Mutation SNP G G C TCGA-AB-2904-03A-01W-0732-08 TCGA-AB-2904-11A-01W-0732-08 G G G C G G Verified Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq 1 dbGAP Illumina HiSeq 13a3cb00-5cd7-4a71-a838-58ff943316a2 d4015d83-cbbf-4411-bd2d-3125cb0de849 15 42743115 42743115 G C SNP SPG11 NM_025137.3 human genbank 54_36p -1 reviewed missense c.23 p.A8G 0.021 NULL PatternScan_GLYCOSYL_HYDROL_F1_1 - no_errors 17 0 0.00 45 12 20.69 5 9 64.29 +LOC441775 0 genome.wustl.edu 37 16 76269409 76269409 + RNA SNP C C T TCGA-AB-2904-03A-01W-0732-08 TCGA-AB-2904-11A-01W-0732-08 C C C T C C Verified Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq 1 dbGAP Illumina HiSeq 13a3cb00-5cd7-4a71-a838-58ff943316a2 d4015d83-cbbf-4411-bd2d-3125cb0de849 16 74826910 74826910 C T SNP LOC441775 XR_042366.2 human genbank 54_36p -1 model rna NULL NULL 0.010 - - - pseudogene 86 0 0.00 154 80 33.76 8 0 0.00 +PRPF8 0 genome.wustl.edu 37 17 1580392 1580392 + Missense_Mutation SNP C C G TCGA-AB-2904-03A-01W-0732-08 TCGA-AB-2904-11A-01W-0732-08 C C C G C C Verified Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq 1 dbGAP Illumina HiSeq 13a3cb00-5cd7-4a71-a838-58ff943316a2 d4015d83-cbbf-4411-bd2d-3125cb0de849 17 1527142 1527142 C G SNP PRPF8 NM_006445.3 human genbank 54_36p -1 reviewed missense c.2059 p.A687P 1.000 HMMPfam_PROCN HMMPfam_Mov34,HMMSmart_SM00232,HMMPfam_PRO8NT,HMMPfam_PROCN,HMMPfam_PROCT,HMMPfam_U6-snRNA_bdg,HMMPfam_U5_2-snRNA_bdg,HMMPfam_RRM_4 - no_errors 117 0 0.00 30 41 56.94 17 102 85.71 +TP53 0 genome.wustl.edu 37 17 7574018 7574018 + Missense_Mutation SNP G G A TCGA-AB-2904-03A-01W-0732-08 TCGA-AB-2904-11A-01W-0732-08 G G G A G G Verified Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq 1 dbGAP Illumina HiSeq 13a3cb00-5cd7-4a71-a838-58ff943316a2 d4015d83-cbbf-4411-bd2d-3125cb0de849 17 7514743 7514743 G A SNP TP53 NM_000546.4 human genbank 54_36p -1 reviewed missense c.1009 p.R337C 0.465 HMMPfam_P53_tetramer,superfamily_p53 tetramerization domain PatternScan_P53,superfamily_p53-like transcription factors,HMMPfam_P53_tetramer,superfamily_p53 tetramerization domain,HMMPfam_P53,HMMPfam_P53_TAD - no_errors 104 0 0.00 63 116 64.80 5 120 94.49 +KRT19 0 genome.wustl.edu 37 17 39681182 39681182 + Silent SNP A A G TCGA-AB-2904-03A-01W-0732-08 TCGA-AB-2904-11A-01W-0732-08 A A A G A A Verified Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq 1 dbGAP Illumina HiSeq 13a3cb00-5cd7-4a71-a838-58ff943316a2 d4015d83-cbbf-4411-bd2d-3125cb0de849 17 36934708 36934708 A G SNP KRT19 NM_002276.4 human genbank 54_36p -1 reviewed silent c.573 p.D191 0.633 superfamily_Prefoldin,HMMPfam_Filament superfamily_Prefoldin,HMMPfam_Filament,PatternScan_IF - no_errors 29 0 0.00 35 17 32.08 NA NA NA +CACNA1G 0 genome.wustl.edu 37 17 48673940 48673940 + Silent SNP C C T TCGA-AB-2904-03A-01W-0732-08 TCGA-AB-2904-11A-01W-0732-08 C C C T C C Verified Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq 1 dbGAP Illumina HiSeq 13a3cb00-5cd7-4a71-a838-58ff943316a2 d4015d83-cbbf-4411-bd2d-3125cb0de849 17 46028939 46028939 C T SNP CACNA1G NM_018896.3 human genbank 54_36p +1 validated silent c.2997 p.S999 0.579 NULL HMMPfam_Ion_trans,superfamily_Voltage-gated potassium channels - no_errors 50 0 0.00 82 36 30.25 NA NA NA +MUC16 0 genome.wustl.edu 37 19 9076508 9076508 + Silent SNP G G A TCGA-AB-2904-03A-01W-0732-08 TCGA-AB-2904-11A-01W-0732-08 G G G A G G Verified Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq 1 dbGAP Illumina HiSeq 13a3cb00-5cd7-4a71-a838-58ff943316a2 d4015d83-cbbf-4411-bd2d-3125cb0de849 19 8937508 8937508 G A SNP MUC16 NM_024690.2 human genbank 54_36p -1 validated silent c.10938 p.S3646 0.000 NULL HMMPfam_SEA,HMMSmart_SM00200,PatternScan_ATPASE_ALPHA_BETA,superfamily_SEA domain - no_errors 293 1 0.34 322 193 36.97 NA NA NA +CYBB 0 genome.wustl.edu 37 X 37665662 37665662 + Missense_Mutation SNP G G A TCGA-AB-2905-03A-01D-0739-09 TCGA-AB-2905-11A-01D-0739-09 G G G A G G Verified Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq 1 dbGAP Illumina HiSeq ccdc0b99-43b9-465c-97cc-199fa22b7d06 d38f4cbf-101a-445d-adaf-b3803d5dcfc5 X 37550606 37550606 G A SNP CYBB NM_000397.3 human genbank 54_36p +1 reviewed missense c.1337 p.R446Q 1.000 HMMPfam_NAD_binding_6,superfamily_Ferredoxin reductase-like C-terminal NADP-linked domain HMMPfam_FAD_binding_8,HMMPfam_NAD_binding_6,HMMPfam_Ferric_reduct,superfamily_Riboflavin synthase domain-like,superfamily_Ferredoxin reductase-like C-terminal NADP-linked domain - no_errors 1460 2 0.14 408 644 60.98 NA NA NA +C1orf168 0 genome.wustl.edu 37 1 57254703 57254703 + Missense_Mutation SNP C C T TCGA-AB-2905-03A-01D-0739-09 TCGA-AB-2905-11A-01D-0739-09 C C C T C C Verified Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq 1 dbGAP Illumina HiSeq ccdc0b99-43b9-465c-97cc-199fa22b7d06 d38f4cbf-101a-445d-adaf-b3803d5dcfc5 1 57027291 57027291 C T SNP C1orf168 NM_001004303.4 human genbank 54_36p -1 validated missense c.862 p.V288M 0.410 NULL superfamily_SH3-domain - no_errors 1447 5 0.34 661 306 31.58 NA NA NA +PAPPA2 0 genome.wustl.edu 37 1 176759024 176759024 + Missense_Mutation SNP C C T TCGA-AB-2905-03A-01D-0739-09 TCGA-AB-2905-11A-01D-0739-09 C C C T C C Verified Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq 1 dbGAP Illumina HiSeq ccdc0b99-43b9-465c-97cc-199fa22b7d06 d38f4cbf-101a-445d-adaf-b3803d5dcfc5 1 175025647 175025647 C T SNP PAPPA2 NM_020318.2 human genbank 54_36p +1 validated missense c.4795 p.P1599S 0.691 HMMSmart_SM00032,superfamily_Complement control module/SCR domain HMMPfam_Sushi,HMMSmart_SM00032,HMMPfam_Notch,HMMSmart_SM00004,superfamily_Notch domain,PatternScan_N6_MTASE,PatternScan_ZINC_PROTEASE,HMMSmart_SM00560,HMMPfam_Peptidase_M43,superfamily_Concanavalin A-like lectins/glucanases,superfamily_Complement control module/SCR domain,superfamily_Metalloproteases ("zincins") catalytic domain - no_errors 1924 1 0.05 1086 523 32.48 NA NA NA +NAV1 0 genome.wustl.edu 37 1 201777192 201777192 + Missense_Mutation SNP C C G TCGA-AB-2905-03A-01D-0739-09 TCGA-AB-2905-11A-01D-0739-09 C C C G C C Verified Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq 1 dbGAP Illumina HiSeq ccdc0b99-43b9-465c-97cc-199fa22b7d06 d38f4cbf-101a-445d-adaf-b3803d5dcfc5 1 200043815 200043815 C G SNP NAV1 NM_020443.3 human genbank 54_36p +1 reviewed missense c.3751 p.P1251A 1.000 NULL HMMSmart_AAA,PatternScan_PPASE,superfamily_SSF52540 - no_errors 1948 0 0.00 728 339 31.71 NA NA NA +ABCG8 0 genome.wustl.edu 37 2 44079555 44079555 + Missense_Mutation SNP G G A TCGA-AB-2905-03A-01D-0739-09 TCGA-AB-2905-11A-01D-0739-09 G G G A G G Verified Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq 1 dbGAP Illumina HiSeq ccdc0b99-43b9-465c-97cc-199fa22b7d06 d38f4cbf-101a-445d-adaf-b3803d5dcfc5 2 43933059 43933059 G A SNP ABCG8 NM_022437.2 human genbank 54_36p +1 reviewed missense c.624 p.M208I 0.069 HMMPfam_ABC_tran,superfamily_P-loop containing nucleoside triphosphate hydrolases HMMPfam_ABC_tran,HMMPfam_ABC2_membrane,PatternScan_ABC_TRANSPORTER_1,superfamily_P-loop containing nucleoside triphosphate hydrolases - no_errors 1027 0 0.00 620 365 37.06 NA NA NA +IL1R1 0 genome.wustl.edu 37 2 102793205 102793205 + Missense_Mutation SNP G G A TCGA-AB-2905-03A-01D-0739-09 TCGA-AB-2905-11A-01D-0739-09 G G G A G G Verified Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq 1 dbGAP Illumina HiSeq ccdc0b99-43b9-465c-97cc-199fa22b7d06 d38f4cbf-101a-445d-adaf-b3803d5dcfc5 2 102159637 102159637 G A SNP IL1R1 NM_000877.2 human genbank 54_36p +1 reviewed missense c.1696 p.V566M 0.000 NULL HMMPfam_TIR,HMMSmart_SM00255,superfamily_Toll/Interleukin receptor TIR domain,HMMSmart_SM00409,HMMPfam_ig,superfamily_Immunoglobulin - no_errors 1704 1 0.06 985 478 32.67 NA NA NA +LRP1B 0 genome.wustl.edu 37 2 141083356 141083356 + Silent SNP T T C TCGA-AB-2905-03A-01D-0739-09 TCGA-AB-2905-11A-01D-0739-09 T T T C T T Verified Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq 1 dbGAP Illumina HiSeq ccdc0b99-43b9-465c-97cc-199fa22b7d06 d38f4cbf-101a-445d-adaf-b3803d5dcfc5 2 140799826 140799826 T C SNP LRP1B NM_018557.2 human genbank 54_36p -1 validated silent c.12315 p.S4105 0.934 HMMPfam_Ldl_recept_b,HMMSmart_LY,superfamily_SSF63825 HMMPfam_Ldl_recept_b,HMMSmart_LY,PatternScan_ASX_HYDROXYL,HMMPfam_NHL,HMMSmart_EGF_CA,HMMPfam_Ldl_recept_a,HMMSmart_LDLa,PatternScan_LDLRA_1,superfamily_LDL_rcpt_classA_cys-rich,HMMPfam_EGF,HMMSmart_EGF,PatternScan_EGF_1,PatternScan_EGF_2,HMMPfam_EGF_CA,HMMPfam_EGF_2,PatternScan_EGF_CA,superfamily_SSF57196,superfamily_SSF63825 - no_errors 1711 2 0.12 1223 492 28.69 NA NA NA +UGT1A10 0 genome.wustl.edu 37 2 234545658 234545658 + Missense_Mutation SNP C C T TCGA-AB-2905-03A-01D-0739-09 TCGA-AB-2905-11A-01D-0739-09 C C C T C C Verified Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq 1 dbGAP Illumina HiSeq ccdc0b99-43b9-465c-97cc-199fa22b7d06 d38f4cbf-101a-445d-adaf-b3803d5dcfc5 2 234210397 234210397 C T SNP UGT1A10 NM_019075.2 human genbank 54_36p +1 reviewed missense c.490 p.P164S 0.874 HMMPfam_UDPGT,superfamily_UDP-Glycosyltransferase/glycogen phosphorylase HMMPfam_UDPGT,PatternScan_UDPGT,superfamily_UDP-Glycosyltransferase/glycogen phosphorylase - no_errors 420 1 0.24 400 176 30.56 NA NA NA +FAM19A4 0 genome.wustl.edu 37 3 68802037 68802037 + Missense_Mutation SNP C C T TCGA-AB-2905-03A-01D-0739-09 TCGA-AB-2905-11A-01D-0739-09 C C C T C C Verified Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq 1 dbGAP Illumina HiSeq ccdc0b99-43b9-465c-97cc-199fa22b7d06 d38f4cbf-101a-445d-adaf-b3803d5dcfc5 3 68884727 68884727 C T SNP FAM19A4 NM_001005527.1 human genbank 54_36p -1 reviewed missense c.263 p.R88Q 1.000 NULL NULL - no_errors 1486 0 0.00 911 438 32.42 NA NA NA +MGLL 0 genome.wustl.edu 37 3 127414007 127414007 + Silent SNP C C T TCGA-AB-2905-03A-01D-0739-09 TCGA-AB-2905-11A-01D-0739-09 C C C T C C Verified Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq 1 dbGAP Illumina HiSeq ccdc0b99-43b9-465c-97cc-199fa22b7d06 d38f4cbf-101a-445d-adaf-b3803d5dcfc5 3 128896697 128896697 C T SNP MGLL NM_007283.1 human genbank 54_36p -1 validated silent c.627 p.L209 0.991 HMMPfam_Abhydrolase_1,superfamily_SSF53474 HMMPfam_Abhydrolase_1,PatternScan_LIPASE_SER,superfamily_SSF53474 - no_errors 768 0 0.00 414 180 30.30 NA NA NA +PLRG1 0 genome.wustl.edu 37 4 155458482 155458482 + Missense_Mutation SNP C C T TCGA-AB-2905-03A-01D-0739-09 TCGA-AB-2905-11A-01D-0739-09 C C C T C C Verified Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq 1 dbGAP Illumina HiSeq ccdc0b99-43b9-465c-97cc-199fa22b7d06 d38f4cbf-101a-445d-adaf-b3803d5dcfc5 4 155677932 155677932 C T SNP PLRG1 NM_002669.2 human genbank 54_36p -1 provisional missense c.1441 p.E481K 1.000 HMMSmart_SM00320,superfamily_WD40 repeat-like,HMMPfam_WD40 HMMSmart_SM00320,superfamily_WD40 repeat-like,PatternScan_WD_REPEATS_1,HMMPfam_WD40 - no_errors 1182 4 0.34 688 328 32.28 NA NA NA +SLC26A2 0 genome.wustl.edu 37 5 149357812 149357812 + Silent SNP T T C TCGA-AB-2905-03A-01D-0739-09 TCGA-AB-2905-11A-01D-0739-09 T T T C T T Verified Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq 1 dbGAP Illumina HiSeq ccdc0b99-43b9-465c-97cc-199fa22b7d06 d38f4cbf-101a-445d-adaf-b3803d5dcfc5 5 149338005 149338005 T C SNP SLC26A2 NM_000112.3 human genbank 54_36p +1 reviewed silent c.597 p.N199 0.008 NULL HMMPfam_STAS,superfamily_STAS,HMMPfam_Sulfate_transp,PatternScan_SLC26A - no_errors 1500 0 0.00 675 303 30.98 NA NA NA +LRP4 0 genome.wustl.edu 37 11 46905472 46905472 + Silent SNP G G A TCGA-AB-2905-03A-01D-0739-09 TCGA-AB-2905-11A-01D-0739-09 G G G A G G Verified Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq 1 dbGAP Illumina HiSeq ccdc0b99-43b9-465c-97cc-199fa22b7d06 d38f4cbf-101a-445d-adaf-b3803d5dcfc5 11 46862048 46862048 G A SNP LRP4 NM_002334.2 human genbank 54_36p -1 validated silent c.2562 p.I854 1.000 HMMPfam_Ldl_recept_b,HMMSmart_SM00135,superfamily_YWTD domain HMMPfam_Ldl_recept_b,HMMSmart_SM00135,PatternScan_ASX_HYDROXYL,HMMSmart_SM00179,HMMPfam_Ldl_recept_a,HMMSmart_SM00192,PatternScan_LDLRA_1,superfamily_LDL receptor-like module,HMMPfam_EGF,HMMSmart_SM00181,PatternScan_EGF_2,HMMPfam_EGF_CA,PatternScan_EGF_CA,superfamily_EGF/Laminin,superfamily_YWTD domain - no_errors 1651 0 0.00 826 348 29.57 NA NA NA +BICD1 0 genome.wustl.edu 37 12 32530523 32530523 + Missense_Mutation SNP G G A TCGA-AB-2905-03A-01D-0739-09 TCGA-AB-2905-11A-01D-0739-09 G G G A G G Verified Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq 1 dbGAP Illumina HiSeq ccdc0b99-43b9-465c-97cc-199fa22b7d06 d38f4cbf-101a-445d-adaf-b3803d5dcfc5 12 32421790 32421790 G A SNP BICD1 NM_001714.1 human genbank 54_36p +1 reviewed missense c.2890 p.A964T 0.995 NULL HMMPfam_BicD - no_errors 758 2 0.26 430 211 32.87 NA NA NA +NOS1 0 genome.wustl.edu 37 12 117669802 117669802 + Missense_Mutation SNP C C T TCGA-AB-2905-03A-01D-0739-09 TCGA-AB-2905-11A-01D-0739-09 C C C T C C Verified Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq 1 dbGAP Illumina HiSeq ccdc0b99-43b9-465c-97cc-199fa22b7d06 d38f4cbf-101a-445d-adaf-b3803d5dcfc5 12 116154185 116154185 C T SNP NOS1 NM_000620.2 human genbank 54_36p -1 validated missense c.3370 p.E1124K 1.000 HMMPfam_FAD_binding_1,superfamily_Riboflavin synthase domain-like HMMPfam_NAD_binding_1,HMMPfam_PDZ,HMMSmart_SM00228,superfamily_PDZ domain-like,HMMPfam_FAD_binding_1,HMMPfam_NO_synthase,PatternScan_NOS,superfamily_Nitric oxide (NO) synthase oxygenase domain,HMMPfam_Flavodoxin_1,superfamily_Riboflavin synthase domain-like,superfamily_Flavoproteins,superfamily_Ferredoxin reductase-like C-terminal NADP-linked domain - no_errors 1929 1 0.05 735 370 33.45 NA NA NA +TTLL5 0 genome.wustl.edu 37 14 76232532 76232532 + Silent SNP A A G TCGA-AB-2905-03A-01D-0739-09 TCGA-AB-2905-11A-01D-0739-09 A A A G A A Verified Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq 1 dbGAP Illumina HiSeq ccdc0b99-43b9-465c-97cc-199fa22b7d06 d38f4cbf-101a-445d-adaf-b3803d5dcfc5 14 75302285 75302285 A G SNP TTLL5 NM_015072.3 human genbank 54_36p +1 validated silent c.1836 p.R612 0.056 NULL HMMPfam_TTL,superfamily_Glutathione synthetase ATP-binding domain-like - no_errors 936 1 0.11 705 313 30.75 NA NA NA +RNF111 0 genome.wustl.edu 37 15 59368279 59368279 + Nonsense_Mutation SNP C C T TCGA-AB-2905-03A-01D-0739-09 TCGA-AB-2905-11A-01D-0739-09 C C C T C C Verified Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq 1 dbGAP Illumina HiSeq ccdc0b99-43b9-465c-97cc-199fa22b7d06 d38f4cbf-101a-445d-adaf-b3803d5dcfc5 15 57155571 57155571 C T SNP RNF111 NM_017610.6 human genbank 54_36p +1 reviewed nonsense c.1813 p.Q605* 1.000 NULL HMMSmart_SM00184,HMMPfam_zf-C3HC4,superfamily_RING/U-box - no_errors 941 0 0.00 523 220 29.53 NA NA NA +PARP6 0 genome.wustl.edu 37 15 72549766 72549766 + Missense_Mutation SNP G G T TCGA-AB-2905-03A-01D-0739-09 TCGA-AB-2905-11A-01D-0739-09 G G G T G G Verified Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq 1 dbGAP Illumina HiSeq ccdc0b99-43b9-465c-97cc-199fa22b7d06 d38f4cbf-101a-445d-adaf-b3803d5dcfc5 15 70336820 70336820 G T SNP PARP6 NM_020214.2 human genbank 54_36p -1 provisional missense c.922 p.R308S 0.993 NULL HMMPfam_PARP,superfamily_ADP-ribosylation - no_errors 1316 10 0.75 725 332 31.41 NA NA NA +NAPA 0 genome.wustl.edu 37 19 47995334 47995334 + Missense_Mutation SNP C C T TCGA-AB-2905-03A-01D-0739-09 TCGA-AB-2905-11A-01D-0739-09 C C C T C C Verified Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq 1 dbGAP Illumina HiSeq ccdc0b99-43b9-465c-97cc-199fa22b7d06 d38f4cbf-101a-445d-adaf-b3803d5dcfc5 19 52687146 52687146 C T SNP NAPA NM_003827.2 human genbank 54_36p -1 reviewed missense c.604 p.A202T 1.000 superfamily_TPR-like HMMPfam_NSF,superfamily_TPR-like - no_errors 1045 3 0.29 566 207 26.64 NA NA NA +KCNQ2 0 genome.wustl.edu 37 20 62038564 62038564 + Silent SNP G G T TCGA-AB-2905-03A-01D-0739-09 TCGA-AB-2905-11A-01D-0739-09 G G G T G G Verified Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq 1 dbGAP Illumina HiSeq ccdc0b99-43b9-465c-97cc-199fa22b7d06 d38f4cbf-101a-445d-adaf-b3803d5dcfc5 20 61509008 61509008 G T SNP KCNQ2 NM_172107.4 human genbank 54_36p -1 reviewed silent c.2052 p.G684 1.000 NULL HMMPfam_Ion_trans,HMMPfam_KCNQ_channel,superfamily_Voltage-gated potassium channels - no_errors 163 0 0.00 84 42 33.33 NA NA NA +JAM2 0 genome.wustl.edu 37 21 27066149 27066149 + Missense_Mutation SNP G G A TCGA-AB-2905-03A-01D-0739-09 TCGA-AB-2905-11A-01D-0739-09 G G G A G G Verified Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq 1 dbGAP Illumina HiSeq ccdc0b99-43b9-465c-97cc-199fa22b7d06 d38f4cbf-101a-445d-adaf-b3803d5dcfc5 21 25988020 25988020 G A SNP JAM2 NM_021219.2 human genbank 54_36p +1 reviewed missense c.323 p.R108H 0.994 HMMSmart_IG,HMMPfam_V-set,superfamily_SSF48726 HMMSmart_IGc2,HMMSmart_IG,HMMPfam_V-set,HMMPfam_ig,superfamily_SSF48726 - no_errors 1121 1 0.09 710 357 33.46 NA NA NA +CSMD1 0 genome.wustl.edu 37 8 3000053 3000053 + Frame_Shift_Del DEL C C - TCGA-AB-2905-03A-01D-0739-09 TCGA-AB-2905-11A-01D-0739-09 C C C - C C Verified Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq 1 dbGAP Illumina HiSeq ccdc0b99-43b9-465c-97cc-199fa22b7d06 d38f4cbf-101a-445d-adaf-b3803d5dcfc5 8 2987460 2987460 C - DEL CSMD1 NM_033225.4 human genbank 54_36p -1 validated frame_shift_del c.6179 p.N2061fs 0.975 NULL HMMPfam_Sushi,HMMSmart_SM00032,HMMPfam_CUB,HMMSmart_SM00042,superfamily_Spermadhesin CUB domain,superfamily_Complement control module/SCR domain - pseudogene:no_stop_codon:bad_bp_length_for_coding_region 709 0 0.00 374 169 30.23 NA NA NA +WT1 0 genome.wustl.edu 37 11 32417922 32417923 + Frame_Shift_Ins INS - - TCGGGGCTAC TCGA-AB-2905-03A-01D-0739-09 TCGA-AB-2905-11A-01D-0739-09 - - - TCGGGGCTAC - - Verified Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq 1 dbGAP Illumina HiSeq ccdc0b99-43b9-465c-97cc-199fa22b7d06 d38f4cbf-101a-445d-adaf-b3803d5dcfc5 11 32374498 32374499 - TCGGGGCTAC INS WT1 NM_024426.3 human genbank 54_36p -1 reviewed frame_shift_ins c.1130_1129 p.T377fs 0.991:0.888 HMMPfam_WT1 HMMPfam_WT1,HMMPfam_zf-C2H2,PatternScan_ZINC_FINGER_C2H2_1,HMMSmart_SM00355,superfamily_C2H2 and C2HC zinc fingers - no_errors NA NA NA NA NA NA NA NA NA +DLGAP3 0 genome.wustl.edu 37 1 35370196 35370196 + Silent SNP G G A TCGA-AB-2906-03A-01D-0739-09 TCGA-AB-2906-11A-01D-0739-09 G G G A G G Verified Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq 1 dbGAP Illumina HiSeq 1ab4740e-e48f-4d5f-8b48-1b249e12b164 b5561c6c-eece-4ac3-969b-094285b5e3ff 1 35142783 35142783 G A SNP DLGAP3 NM_001080418.1 human genbank 54_36p -1 provisional silent c.789 p.S263 0.929 NULL HMMPfam_GKAP - no_errors 1820 1 0.05 1242 884 41.58 NA NA NA +NES 0 genome.wustl.edu 37 1 156642555 156642555 + Silent SNP G G A TCGA-AB-2906-03A-01D-0739-09 TCGA-AB-2906-11A-01D-0739-09 G G G A G G Verified Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq 1 dbGAP Illumina HiSeq 1ab4740e-e48f-4d5f-8b48-1b249e12b164 b5561c6c-eece-4ac3-969b-094285b5e3ff 1 154909179 154909179 G A SNP NES NM_006617.1 human genbank 54_36p -1 reviewed silent c.1425 p.S475 0.000 NULL HMMPfam_Filament,PatternScan_IF - no_errors 178 2 1.11 170 145 46.03 NA NA NA +IL17RD 0 genome.wustl.edu 37 3 57131719 57131719 + Nonsense_Mutation SNP G G C TCGA-AB-2906-03A-01D-0739-09 TCGA-AB-2906-11A-01D-0739-09 G G G C G G Verified Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq 1 dbGAP Illumina HiSeq 1ab4740e-e48f-4d5f-8b48-1b249e12b164 b5561c6c-eece-4ac3-969b-094285b5e3ff 3 57106759 57106759 G C SNP IL17RD NM_017563.3 human genbank 54_36p -1 validated nonsense c.1916 p.S639* 0.998 NULL HMMPfam_SEFIR - no_errors 452 0 0.00 354 242 40.60 NA NA NA +PTPRG 0 genome.wustl.edu 37 3 61734593 61734593 + Missense_Mutation SNP C C G TCGA-AB-2906-03A-01D-0739-09 TCGA-AB-2906-11A-01D-0739-09 C C C G C C Verified Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq 1 dbGAP Illumina HiSeq 1ab4740e-e48f-4d5f-8b48-1b249e12b164 b5561c6c-eece-4ac3-969b-094285b5e3ff 3 61709633 61709633 C G SNP PTPRG NM_002841.3 human genbank 54_36p +1 reviewed missense c.127 p.H43D 1.000 NULL HMMPfam_Y_phosphatase,HMMSmart_SM00194,HMMPfam_Carb_anhydrase,superfamily_Carbonic anhydrase,HMMSmart_SM00404,HMMPfam_fn3,HMMSmart_SM00060,superfamily_Fibronectin type III,PatternScan_TYR_PHOSPHATASE_1,superfamily_(Phosphotyrosine protein) phosphatases II - no_errors 941 0 0.00 464 352 43.03 NA NA NA +EPHB1 0 genome.wustl.edu 37 3 134873071 134873071 + Nonsense_Mutation SNP C C T TCGA-AB-2906-03A-01D-0739-09 TCGA-AB-2906-11A-01D-0739-09 C C C T C C Verified Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq 1 dbGAP Illumina HiSeq 1ab4740e-e48f-4d5f-8b48-1b249e12b164 b5561c6c-eece-4ac3-969b-094285b5e3ff 3 136355761 136355761 C T SNP EPHB1 NM_004441.3 human genbank 54_36p +1 reviewed nonsense c.1375 p.Q459* 1.000 HMMPfam_fn3,HMMSmart_SM00060,superfamily_Fibronectin type III HMMPfam_Ephrin_lbd,HMMSmart_SM00615,HMMPfam_Pkinase_Tyr,HMMSmart_SM00219,PatternScan_RECEPTOR_TYR_KIN_V_1,PatternScan_RECEPTOR_TYR_KIN_V_2,HMMPfam_SAM_1,HMMSmart_SM00454,HMMSmart_SM00220,HMMPfam_fn3,HMMSmart_SM00060,PatternScan_PROTEIN_KINASE_TYR,superfamily_Fibronectin type III,superfamily_Galactose-binding domain-like,superfamily_SAM/Pointed domain,superfamily_Protein kinase-like (PK-like),PatternScan_EGF_2,PatternScan_PROTEIN_KINASE_ATP - no_errors 1302 0 0.00 698 600 46.08 NA NA NA +MASP1 0 genome.wustl.edu 37 3 186937934 186937934 + Silent SNP C C T TCGA-AB-2906-03A-01D-0739-09 TCGA-AB-2906-11A-01D-0739-09 C C C T C C Verified Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq 1 dbGAP Illumina HiSeq 1ab4740e-e48f-4d5f-8b48-1b249e12b164 b5561c6c-eece-4ac3-969b-094285b5e3ff 3 188420628 188420628 C T SNP MASP1 NM_001879.1 human genbank 54_36p -1 reviewed silent c.2025 p.K675 0.930 HMMPfam_Trypsin,HMMSmart_SM00020,superfamily_Trypsin-like serine proteases PatternScan_ASX_HYDROXYL,HMMPfam_Sushi,HMMSmart_SM00032,HMMPfam_CUB,HMMSmart_SM00042,superfamily_Spermadhesin CUB domain,HMMPfam_Trypsin,HMMSmart_SM00020,HMMSmart_SM00179,superfamily_Trypsin-like serine proteases,PatternScan_EGF_2,superfamily_Complement control module/SCR domain,PatternScan_EGF_CA,PatternScan_TRYPSIN_HIS,PatternScan_TRYPSIN_SER,superfamily_EGF/Laminin - no_errors 1566 0 0.00 993 770 43.68 NA NA NA +LOC100133292 0 genome.wustl.edu 37 5 2592059 2592059 + Missense_Mutation SNP G G C TCGA-AB-2906-03A-01D-0739-09 TCGA-AB-2906-11A-01D-0739-09 G G G C G G Verified Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq 1 dbGAP Illumina HiSeq 1ab4740e-e48f-4d5f-8b48-1b249e12b164 b5561c6c-eece-4ac3-969b-094285b5e3ff 5 2645059 2645059 G C SNP LOC100133292 XM_001715713.1 human genbank 54_36p -1 model missense c.227 p.T76R 0.065 NULL NULL - no_errors 1188 0 0.00 517 374 41.93 NA NA NA +COL9A1 0 genome.wustl.edu 37 6 70984444 70984444 + Missense_Mutation SNP G G A TCGA-AB-2906-03A-01D-0739-09 TCGA-AB-2906-11A-01D-0739-09 G G G A G G Verified Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq 1 dbGAP Illumina HiSeq 1ab4740e-e48f-4d5f-8b48-1b249e12b164 b5561c6c-eece-4ac3-969b-094285b5e3ff 6 71041165 71041165 G A SNP COL9A1 NM_001851.4 human genbank 54_36p -1 reviewed missense c.1007 p.S336F 0.948 HMMPfam_Collagen HMMSmart_TSPN,HMMPfam_Collagen,superfamily_ConA_like_lec_gl - no_errors 1091 0 0.00 622 321 34.04 NA NA NA +IKZF1 0 genome.wustl.edu 37 7 50444459 50444459 + Missense_Mutation SNP A A G TCGA-AB-2906-03A-01D-0739-09 TCGA-AB-2906-11A-01D-0739-09 A A A G A A Verified Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq 1 dbGAP Illumina HiSeq 1ab4740e-e48f-4d5f-8b48-1b249e12b164 b5561c6c-eece-4ac3-969b-094285b5e3ff 7 50411953 50411953 A G SNP IKZF1 ENST00000331340 human ensembl 54_36p +1 known missense c.389 p.N130S 1.000 PatternScan_ZINC_FINGER_C2H2_1,HMMSmart_SM00355,superfamily_C2H2 and C2HC zinc fingers HMMPfam_zf-C2H2,PatternScan_ZINC_FINGER_C2H2_1,HMMSmart_SM00355,superfamily_C2H2 and C2HC zinc fingers - no_errors 533 0 0.00 346 235 40.38 NA NA NA +LONRF1 0 genome.wustl.edu 37 8 12583332 12583332 + Silent SNP A A G TCGA-AB-2906-03A-01D-0739-09 TCGA-AB-2906-11A-01D-0739-09 A A A G A A Verified Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq 1 dbGAP Illumina HiSeq 1ab4740e-e48f-4d5f-8b48-1b249e12b164 b5561c6c-eece-4ac3-969b-094285b5e3ff 8 12627703 12627703 A G SNP LONRF1 NM_152271.3 human genbank 54_36p -1 provisional silent c.2067 p.S689 0.951 HMMPfam_LON,HMMSmart_SM00464 HMMSmart_SM00184,HMMPfam_LON,HMMSmart_SM00464,PatternScan_ZF_RING_1,HMMPfam_zf-C3HC4,HMMSmart_SM00028,superfamily_TPR-like,superfamily_RING/U-box - no_errors 988 2 0.20 640 469 42.25 NA NA NA +CUBN 0 genome.wustl.edu 37 10 16870963 16870963 + Silent SNP C C T TCGA-AB-2906-03A-01D-0739-09 TCGA-AB-2906-11A-01D-0739-09 C C C T C C Verified Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq 1 dbGAP Illumina HiSeq 1ab4740e-e48f-4d5f-8b48-1b249e12b164 b5561c6c-eece-4ac3-969b-094285b5e3ff 10 16910969 16910969 C T SNP CUBN NM_001081.3 human genbank 54_36p -1 reviewed silent c.10605 p.T3535 0.938 HMMPfam_CUB,HMMSmart_SM00042,superfamily_Spermadhesin CUB domain PatternScan_ASX_HYDROXYL,HMMPfam_CUB,HMMSmart_SM00042,superfamily_Spermadhesin CUB domain,HMMSmart_SM00179,HMMPfam_EGF,HMMSmart_SM00181,PatternScan_EGF_1,PatternScan_EGF_2,HMMPfam_EGF_CA,PatternScan_EGF_CA,superfamily_EGF/Laminin - no_errors 1390 5 0.36 747 596 44.35 NA NA NA +AURKB 0 genome.wustl.edu 37 17 8110166 8110166 + Missense_Mutation SNP G G A TCGA-AB-2906-03A-01D-0739-09 TCGA-AB-2906-11A-01D-0739-09 G G G A G G Verified Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq 1 dbGAP Illumina HiSeq 1ab4740e-e48f-4d5f-8b48-1b249e12b164 b5561c6c-eece-4ac3-969b-094285b5e3ff 17 8050891 8050891 G A SNP AURKB NM_004217.2 human genbank 54_36p -1 validated missense c.439 p.R147W 0.999 HMMSmart_SM00219,HMMSmart_SM00220,superfamily_Protein kinase-like (PK-like),HMMPfam_Pkinase HMMSmart_SM00219,PatternScan_N6_MTASE,HMMSmart_SM00220,PatternScan_PROTEIN_KINASE_ST,superfamily_Protein kinase-like (PK-like),PatternScan_PROTEIN_KINASE_ATP,HMMPfam_Pkinase - no_errors 806 1 0.12 319 278 46.33 NA NA NA +ADAM11 0 genome.wustl.edu 37 17 42837242 42837242 + Missense_Mutation SNP C C T TCGA-AB-2906-03A-01D-0739-09 TCGA-AB-2906-11A-01D-0739-09 C C C T C C Verified Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq 1 dbGAP Illumina HiSeq 1ab4740e-e48f-4d5f-8b48-1b249e12b164 b5561c6c-eece-4ac3-969b-094285b5e3ff 17 40192768 40192768 C T SNP ADAM11 NM_002390.4 human genbank 54_36p +1 reviewed missense c.214 p.R72C 1.000 HMMPfam_Pep_M12B_propep HMMPfam_Reprolysin,HMMPfam_Disintegrin,HMMSmart_SM00050,superfamily_Blood coagulation inhibitor (disintegrin),HMMPfam_Pep_M12B_propep,HMMPfam_ADAM_CR,HMMSmart_SM00608,PatternScan_EGF_1,HMMPfam_EGF_2,PatternScan_DISINTEGRIN_1,superfamily_Metalloproteases ("zincins") catalytic domain,superfamily_EGF/Laminin - no_errors 78 0 0.00 74 53 41.41 NA NA NA +CCDC57 0 genome.wustl.edu 37 17 80059710 80059710 + Missense_Mutation SNP G G A TCGA-AB-2906-03A-01D-0739-09 TCGA-AB-2906-11A-01D-0739-09 G G G A G G Verified Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq 1 dbGAP Illumina HiSeq 1ab4740e-e48f-4d5f-8b48-1b249e12b164 b5561c6c-eece-4ac3-969b-094285b5e3ff 17 77652999 77652999 G A SNP CCDC57 NM_198082.2 human genbank 54_36p -1 validated missense c.2596 p.P866S 0.000 NULL NULL - no_errors 154 0 0.00 109 84 43.30 NA NA NA +THEG 0 genome.wustl.edu 37 19 373949 373949 + Missense_Mutation SNP C C G TCGA-AB-2906-03A-01D-0739-09 TCGA-AB-2906-11A-01D-0739-09 C C C G C C Verified Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq 1 dbGAP Illumina HiSeq 1ab4740e-e48f-4d5f-8b48-1b249e12b164 b5561c6c-eece-4ac3-969b-094285b5e3ff 19 324949 324949 C G SNP THEG NM_016585.3 human genbank 54_36p -1 reviewed missense c.494 p.C165S 0.051 NULL HMMSmart_SM00705 - no_errors 373 0 0.00 166 99 37.36 NA NA NA +FLT3 0 genome.wustl.edu 37 13 28608255 28608256 + In_Frame_Ins INS - - ATCATATTCATATTCTCTGAA TCGA-AB-2906-03A-01D-0739-09 TCGA-AB-2906-11A-01D-0739-09 - - - ATCATATTCATATTCTCTGAA - - Verified Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq 1 dbGAP Illumina HiSeq 1ab4740e-e48f-4d5f-8b48-1b249e12b164 b5561c6c-eece-4ac3-969b-094285b5e3ff 13 27506255 27506256 - ATCATATTCATATTCTCTGAA INS FLT3 NM_004119.2 human genbank 54_36p -1 reviewed in_frame_ins c.1801_1800 p.600in_frame_insFREYEYD 1.000:0.998 superfamily_Kinase_like HMMPfam_Pkinase_Tyr,HMMSmart_TyrKc,PatternScan_RECEPTOR_TYR_KIN_III,PatternScan_PROTEIN_KINASE_TYR,superfamily_Kinase_like,HMMPfam_ig,PatternScan_PROTEIN_KINASE_ATP,superfamily_SSF48726 - no_errors NA NA NA NA NA NA NA NA NA +WLS 0 genome.wustl.edu 37 1 68659721 68659721 + Missense_Mutation SNP G G C TCGA-AB-2907-03A-01D-0739-09 TCGA-AB-2907-11A-01D-0739-09 G G G C G G Verified Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq 1 dbGAP Illumina HiSeq 0f0881a0-c9bc-4636-a99f-36551df20deb a29c2d2b-1e78-443f-aac3-def013f368ca 1 68432309 68432309 G C SNP GPR177 NM_001002292.1 human genbank 54_36p -1 validated missense c.290 p.P97R 0.975 NULL HMMPfam_DUF1171 - no_errors 274 5 1.79 198 88 30.66 NA NA NA +TTN 0 genome.wustl.edu 37 2 179647547 179647547 + Missense_Mutation SNP T T C TCGA-AB-2907-03A-01D-0739-09 TCGA-AB-2907-11A-01D-0739-09 T T T C T T Verified Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq 1 dbGAP Illumina HiSeq 0f0881a0-c9bc-4636-a99f-36551df20deb a29c2d2b-1e78-443f-aac3-def013f368ca 2 179355792 179355792 T C SNP TTN NM_133379.3 human genbank 54_36p -1 reviewed missense c.3086 p.Y1029C 1.000 HMMPfam_I-set,superfamily_SSF48726 PatternScan_THIOL_PROTEASE_HIS,PatternScan_IG_MHC,HMMSmart_IGc2,HMMSmart_IG,HMMPfam_I-set,HMMPfam_ig,HMMPfam_Titin_Z,superfamily_SSF48726 - no_errors 225 2 0.88 183 71 27.95 NA NA NA +FRZB 0 genome.wustl.edu 37 2 183731076 183731076 + Missense_Mutation SNP T T C TCGA-AB-2907-03A-01D-0739-09 TCGA-AB-2907-11A-01D-0739-09 T T T C T T Verified Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq 1 dbGAP Illumina HiSeq 0f0881a0-c9bc-4636-a99f-36551df20deb a29c2d2b-1e78-443f-aac3-def013f368ca 2 183439321 183439321 T C SNP FRZB NM_001463.2 human genbank 54_36p -1 validated missense c.205 p.I69V 1.000 superfamily_Frizzled cysteine-rich domain,HMMPfam_Fz,HMMSmart_SM00063 superfamily_Frizzled cysteine-rich domain,superfamily_TIMP-like,HMMPfam_NTR,HMMSmart_SM00643,HMMPfam_Fz,HMMSmart_SM00063 - no_errors 744 7 0.93 205 92 30.87 NA NA NA +ALS2CR11 0 genome.wustl.edu 37 2 202400926 202400926 + Missense_Mutation SNP C C T TCGA-AB-2907-03A-01D-0739-09 TCGA-AB-2907-11A-01D-0739-09 C C C T C C Verified Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq 1 dbGAP Illumina HiSeq 0f0881a0-c9bc-4636-a99f-36551df20deb a29c2d2b-1e78-443f-aac3-def013f368ca 2 202109171 202109171 C T SNP ALS2CR11 NM_152525.4 human genbank 54_36p -1 validated missense c.1324 p.V442M 0.000 NULL NULL - no_errors 277 4 1.42 266 149 35.65 NA NA NA +RBM46 0 genome.wustl.edu 37 4 155749093 155749093 + Silent SNP C C T TCGA-AB-2907-03A-01D-0739-09 TCGA-AB-2907-11A-01D-0739-09 C C C T C C Verified Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq 1 dbGAP Illumina HiSeq 0f0881a0-c9bc-4636-a99f-36551df20deb a29c2d2b-1e78-443f-aac3-def013f368ca 4 155968543 155968543 C T SNP RBM46 NM_144979.3 human genbank 54_36p +1 validated silent c.1476 p.S492 1.000 NULL HMMPfam_RRM_1,HMMSmart_RRM,superfamily_SSF54928 - no_errors 341 1 0.29 167 89 34.50 NA NA NA +PCDHB1 0 genome.wustl.edu 37 5 140432819 140432819 + Silent SNP C C A TCGA-AB-2907-03A-01D-0739-09 TCGA-AB-2907-11A-01D-0739-09 C C C A C C Verified Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq 1 dbGAP Illumina HiSeq 0f0881a0-c9bc-4636-a99f-36551df20deb a29c2d2b-1e78-443f-aac3-def013f368ca 5 140413003 140413003 C A SNP PCDHB1 NM_013340.2 human genbank 54_36p +1 reviewed silent c.1764 p.T588 1.000 HMMPfam_Cadherin,superfamily_Cadherin HMMPfam_Cadherin,HMMSmart_CA,PatternScan_CADHERIN_1,HMMPfam_Cadherin_2,superfamily_Cadherin - no_errors 240 2 0.82 136 66 32.67 NA NA NA +RCAN2 0 genome.wustl.edu 37 6 46190881 46190881 + Missense_Mutation SNP G G C TCGA-AB-2907-03A-01D-0739-09 TCGA-AB-2907-11A-01D-0739-09 G G G C G G Verified Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq 1 dbGAP Illumina HiSeq 0f0881a0-c9bc-4636-a99f-36551df20deb a29c2d2b-1e78-443f-aac3-def013f368ca 6 46298840 46298840 G C SNP RCAN2 NM_005822.2 human genbank 54_36p -1 validated missense c.591 p.N197K 1.000 NULL HMMPfam_Calcipressin - no_errors 258 2 0.77 218 63 22.26 NA NA NA +CLVS2 0 genome.wustl.edu 37 6 123384853 123384853 + Missense_Mutation SNP C C T TCGA-AB-2907-03A-01D-0739-09 TCGA-AB-2907-11A-01D-0739-09 C C C T C C Verified Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq 1 dbGAP Illumina HiSeq 0f0881a0-c9bc-4636-a99f-36551df20deb a29c2d2b-1e78-443f-aac3-def013f368ca 6 123426552 123426552 C T SNP RLBP1L2 NM_001010852.2 human genbank 54_36p +1 provisional missense c.931 p.R311C 1.000 NULL HMMPfam_CRAL_TRIO,HMMSmart_SM00516,superfamily_CRAL/TRIO domain,PatternScan_SUGAR_TRANSPORT_1,HMMPfam_CRAL_TRIO_N,superfamily_CRAL/TRIO N-terminal domain - no_errors 327 3 0.91 471 143 23.18 NA NA NA +FKTN 0 genome.wustl.edu 37 9 108363630 108363630 + Splice_Site SNP G G T TCGA-AB-2907-03A-01D-0739-09 TCGA-AB-2907-11A-01D-0739-09 G G G T G G Verified Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq 1 dbGAP Illumina HiSeq 0f0881a0-c9bc-4636-a99f-36551df20deb a29c2d2b-1e78-443f-aac3-def013f368ca 9 107403451 107403451 G T SNP FKTN NM_001079802.1 human genbank 54_36p +1 reviewed splice_site c.369+1 e3+1 1.000 - - - no_errors 162 1 0.61 314 102 24.52 NA NA NA +GDF10 0 genome.wustl.edu 37 10 48429357 48429357 + Missense_Mutation SNP G G A TCGA-AB-2907-03A-01D-0739-09 TCGA-AB-2907-11A-01D-0739-09 G G G A G G Verified Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq 1 dbGAP Illumina HiSeq 0f0881a0-c9bc-4636-a99f-36551df20deb a29c2d2b-1e78-443f-aac3-def013f368ca 10 48049363 48049363 G A SNP GDF10 NM_004962.2 human genbank 54_36p -1 reviewed missense c.529 p.L177F 0.005 NULL HMMPfam_TGF_beta,HMMSmart_SM00204,PatternScan_TGF_BETA_1,superfamily_Cystine-knot cytokines - no_errors 85 1 1.16 30 24 44.44 NA NA NA +IDH2 0 genome.wustl.edu 37 15 90631934 90631934 + Missense_Mutation SNP C C T rs121913502 TCGA-AB-2907-03A-01D-0739-09 TCGA-AB-2907-11A-01D-0739-09 C C C T C C Verified Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq 1 dbGAP Illumina HiSeq 0f0881a0-c9bc-4636-a99f-36551df20deb a29c2d2b-1e78-443f-aac3-def013f368ca 15 88432938 88432938 C T SNP IDH2 NM_002168.2 human genbank 54_36p -1 reviewed missense c.419 p.R140Q 1.000 HMMPfam_Iso_dh,superfamily_Isocitrate/Isopropylmalate dehydrogenase-like HMMPfam_Iso_dh,PatternScan_IDH_IMDH,superfamily_Isocitrate/Isopropylmalate dehydrogenase-like - no_errors 50 1 1.92 49 22 30.99 NA NA NA +ZNF236 0 genome.wustl.edu 37 18 74580744 74580744 + Missense_Mutation SNP C C G TCGA-AB-2907-03A-01D-0739-09 TCGA-AB-2907-11A-01D-0739-09 C C C G C C Verified Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq 1 dbGAP Illumina HiSeq 0f0881a0-c9bc-4636-a99f-36551df20deb a29c2d2b-1e78-443f-aac3-def013f368ca 18 72709732 72709732 C G SNP ZNF236 NM_007345.3 human genbank 54_36p +1 validated missense c.461 p.A154G 0.953 HMMPfam_zf-C2H2,HMMSmart_SM00355,superfamily_C2H2 and C2HC zinc fingers HMMPfam_zf-C2H2,PatternScan_ZINC_FINGER_C2H2_1,HMMSmart_SM00355,superfamily_C2H2 and C2HC zinc fingers - no_errors 308 2 0.65 154 71 31.14 NA NA NA +ZNF324B 0 genome.wustl.edu 37 19 58967602 58967602 + Missense_Mutation SNP G G A TCGA-AB-2907-03A-01D-0739-09 TCGA-AB-2907-11A-01D-0739-09 G G G A G G Verified Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq 1 dbGAP Illumina HiSeq 0f0881a0-c9bc-4636-a99f-36551df20deb a29c2d2b-1e78-443f-aac3-def013f368ca 19 63659414 63659414 G A SNP ZNF324B NM_207395.2 human genbank 54_36p +1 validated missense c.1291 p.G431S 0.719 HMMPfam_zf-C2H2,PatternScan_ZINC_FINGER_C2H2_1,HMMSmart_SM00355,superfamily_C2H2 and C2HC zinc fingers HMMPfam_KRAB,HMMSmart_SM00349,superfamily_KRAB domain (Kruppel-associated box Pfam 01352),HMMPfam_zf-C2H2,PatternScan_ZINC_FINGER_C2H2_1,HMMSmart_SM00355,superfamily_C2H2 and C2HC zinc fingers - no_errors 207 6 2.82 54 21 28.00 NA NA NA +ASXL1 0 genome.wustl.edu 37 20 31024758 31024758 + Nonsense_Mutation SNP C C T TCGA-AB-2907-03A-01D-0739-09 TCGA-AB-2907-11A-01D-0739-09 C C C T C C Verified Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq 1 dbGAP Illumina HiSeq 0f0881a0-c9bc-4636-a99f-36551df20deb a29c2d2b-1e78-443f-aac3-def013f368ca 20 30488419 30488419 C T SNP ASXL1 NM_015338.4 human genbank 54_36p +1 reviewed nonsense c.4243 p.R1415* 1.000 NULL NULL - no_errors 86 0 0.00 35 19 35.19 NA NA NA +RUNX1 0 genome.wustl.edu 37 21 36231877 36231877 + Splice_Site SNP T T G TCGA-AB-2907-03A-01D-0739-09 TCGA-AB-2907-11A-01D-0739-09 T T T G T T Verified Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq 1 dbGAP Illumina HiSeq 0f0881a0-c9bc-4636-a99f-36551df20deb a29c2d2b-1e78-443f-aac3-def013f368ca 21 35153747 35153747 T G SNP RUNX1 NM_001754.2 human genbank 54_36p -1 reviewed splice_site c.509-2 e5-2 1.000 - - - no_errors 128 0 0.00 90 72 44.44 NA NA NA +UQCR10 0 genome.wustl.edu 37 22 30163401 30163401 + Missense_Mutation SNP C C A TCGA-AB-2907-03A-01D-0739-09 TCGA-AB-2907-11A-01D-0739-09 C C C A C C Verified Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq 1 dbGAP Illumina HiSeq 0f0881a0-c9bc-4636-a99f-36551df20deb a29c2d2b-1e78-443f-aac3-def013f368ca 22 28493401 28493401 C A SNP UCRC NM_013387.1 human genbank 54_36p +1 validated missense c.14 p.T5K 0.003 superfamily_Ubiquinol_cytC_Reductase_QCR9 HMMPfam_UCR_UQCRX_QCR9,superfamily_Ubiquinol_cytC_Reductase_QCR9 - no_errors 141 1 0.70 75 40 34.78 NA NA NA +ARID1A 0 genome.wustl.edu 37 1 27101691 27101691 + Missense_Mutation SNP G G A TCGA-AB-2908-03A-01W-0745-08 TCGA-AB-2908-11A-01W-0745-08 G G G A G G Verified Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq 1 dbGAP Illumina HiSeq a5785202-6842-4bf5-a4f6-c4e39a1b6521 77e017cf-a152-4721-9e70-2ee2806ae6cc 1 26974278 26974278 G A SNP ARID1A NM_006015.4 human genbank 54_36p +1 reviewed missense c.4973 p.R1658Q 1.000 NULL HMMPfam_ARID,HMMSmart_SM00501,superfamily_ARID-like - no_errors 204 6 2.86 150 98 39.36 64 62 49.21 +SLAMF7 0 genome.wustl.edu 37 1 160718302 160718302 + Missense_Mutation SNP A A G TCGA-AB-2908-03A-01W-0745-08 TCGA-AB-2908-11A-01W-0745-08 A A A G A A Verified Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq 1 dbGAP Illumina HiSeq a5785202-6842-4bf5-a4f6-c4e39a1b6521 77e017cf-a152-4721-9e70-2ee2806ae6cc 1 158984926 158984926 A G SNP SLAMF7 NM_021181.3 human genbank 54_36p +1 provisional missense c.374 p.Y125C 0.922 HMMPfam_V-set,superfamily_Immunoglobulin HMMPfam_V-set,superfamily_Immunoglobulin - no_errors 347 9 2.53 295 155 34.29 31 0 0.00 +DNMT3A 0 genome.wustl.edu 37 2 25457243 25457243 + Missense_Mutation SNP G G A TCGA-AB-2908-03A-01W-0745-08 TCGA-AB-2908-11A-01W-0745-08 G G G A G G Verified Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq 1 dbGAP Illumina HiSeq a5785202-6842-4bf5-a4f6-c4e39a1b6521 77e017cf-a152-4721-9e70-2ee2806ae6cc 2 25310747 25310747 G A SNP DNMT3A NM_022552.3 human genbank 54_36p -1 reviewed missense c.2644 p.R882C 1.000 superfamily_S-adenosyl-L-methionine-dependent methyltransferases HMMPfam_PWWP,HMMSmart_SM00293,HMMPfam_DNA_methylase,superfamily_FYVE/PHD zinc finger,PatternScan_C5_MTASE_1,superfamily_S-adenosyl-L-methionine-dependent methyltransferases,superfamily_Tudor/PWWP/MBT - no_errors 99 4 3.88 91 65 41.67 37 39 51.32 +TET2 0 genome.wustl.edu 37 4 106164778 106164778 + Nonsense_Mutation SNP C C T TCGA-AB-2908-03A-01W-0745-08 TCGA-AB-2908-11A-01W-0745-08 C C C T C C Verified Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq 1 dbGAP Illumina HiSeq a5785202-6842-4bf5-a4f6-c4e39a1b6521 77e017cf-a152-4721-9e70-2ee2806ae6cc 4 106384227 106384227 C T SNP TET2 ENST00000265149 human ensembl 54_36p +1 known nonsense c.52 p.R18* 1.000 NULL NULL - no_start_codon 67 3 4.29 119 71 36.98 8 8 50.00 +PCDHA8 0 genome.wustl.edu 37 5 140222758 140222758 + Missense_Mutation SNP C C A TCGA-AB-2908-03A-01W-0745-08 TCGA-AB-2908-11A-01W-0745-08 C C C A C C Verified Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq 1 dbGAP Illumina HiSeq a5785202-6842-4bf5-a4f6-c4e39a1b6521 77e017cf-a152-4721-9e70-2ee2806ae6cc 5 140202942 140202942 C A SNP PCDHA8 NM_018911.2 human genbank 54_36p +1 reviewed missense c.1852 p.P618T 0.001 HMMPfam_Cadherin,HMMSmart_SM00112,superfamily_Cadherin-like HMMPfam_Cadherin,HMMSmart_SM00112,PatternScan_CADHERIN_1,HMMPfam_Cadherin_2,superfamily_Cadherin-like - no_errors 36 0 0.00 7 29 80.56 NA NA NA +STK32A 0 genome.wustl.edu 37 5 146752756 146752756 + Nonsense_Mutation SNP C C T TCGA-AB-2908-03A-01W-0745-08 TCGA-AB-2908-11A-01W-0745-08 C C C T C C Verified Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq 1 dbGAP Illumina HiSeq a5785202-6842-4bf5-a4f6-c4e39a1b6521 77e017cf-a152-4721-9e70-2ee2806ae6cc 5 146732949 146732949 C T SNP STK32A ENST00000306304 human ensembl 54_36p +1 known nonsense c.802 p.R268* 0.997 HMMSmart_S_TKc,superfamily_Kinase_like,HMMPfam_Pkinase HMMSmart_S_TKc,PatternScan_PROTEIN_KINASE_ST,superfamily_Kinase_like,PatternScan_PROTEIN_KINASE_ATP,HMMPfam_Pkinase - no_errors 220 1 0.45 69 108 60.67 NA NA NA +GRM3 0 genome.wustl.edu 37 7 86468368 86468368 + Missense_Mutation SNP G G C TCGA-AB-2908-03A-01W-0745-08 TCGA-AB-2908-11A-01W-0745-08 G G G C G G Verified Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq 1 dbGAP Illumina HiSeq a5785202-6842-4bf5-a4f6-c4e39a1b6521 77e017cf-a152-4721-9e70-2ee2806ae6cc 7 86306304 86306304 G C SNP GRM3 NM_000840.2 human genbank 54_36p +1 reviewed missense c.1538 p.C513S 1.000 HMMPfam_NCD3G,superfamily_Periplasmic binding protein-like I HMMPfam_ANF_receptor,HMMPfam_NCD3G,HMMPfam_7tm_3,PatternScan_G_PROTEIN_RECEP_F3_1,PatternScan_G_PROTEIN_RECEP_F3_2,PatternScan_G_PROTEIN_RECEP_F3_3,superfamily_Periplasmic binding protein-like I - no_errors 155 5 3.12 106 72 39.78 NA NA NA +ESCO2 0 genome.wustl.edu 37 8 27634598 27634598 + Missense_Mutation SNP G G A TCGA-AB-2908-03A-01W-0745-08 TCGA-AB-2908-11A-01W-0745-08 G G G A G G Verified Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq 1 dbGAP Illumina HiSeq a5785202-6842-4bf5-a4f6-c4e39a1b6521 77e017cf-a152-4721-9e70-2ee2806ae6cc 8 27690517 27690517 G A SNP ESCO2 NM_001017420.2 human genbank 54_36p +1 reviewed missense c.773 p.R258K 0.001 NULL NULL - no_errors 70 2 2.78 108 64 36.78 4 4 50.00 +FLJ43860 0 genome.wustl.edu 37 8 142481264 142481264 + Missense_Mutation SNP G G T TCGA-AB-2908-03A-01W-0745-08 TCGA-AB-2908-11A-01W-0745-08 G G G T G G Verified Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq 1 dbGAP Illumina HiSeq a5785202-6842-4bf5-a4f6-c4e39a1b6521 77e017cf-a152-4721-9e70-2ee2806ae6cc 8 142550446 142550446 G T SNP FLJ43860 NM_207414.2 human genbank 54_36p -1 validated missense c.1897 p.Q633K 0.639 superfamily_ARM repeat HMMPfam_HEAT,superfamily_ARM repeat - pseudogene 325 1 0.31 224 110 32.54 NA NA NA +SMC3 0 genome.wustl.edu 37 10 112361832 112361832 + Missense_Mutation SNP A A G TCGA-AB-2908-03A-01W-0745-08 TCGA-AB-2908-11A-01W-0745-08 A A A G A A Verified Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq 1 dbGAP Illumina HiSeq a5785202-6842-4bf5-a4f6-c4e39a1b6521 77e017cf-a152-4721-9e70-2ee2806ae6cc 10 112351822 112351822 A G SNP SMC3 NM_005445.3 human genbank 54_36p +1 reviewed missense c.3001 p.I1001V 1.000 HMMPfam_SMC_N,superfamily_P-loop containing nucleoside triphosphate hydrolases HMMPfam_SMC_N,HMMPfam_SMC_hinge,superfamily_Smc hinge domain,PatternScan_ABC_TRANSPORTER_1,superfamily_P-loop containing nucleoside triphosphate hydrolases,superfamily_BAG domain - no_errors 46 1 2.13 46 51 52.04 25 28 52.83 +TMPRSS13 0 genome.wustl.edu 37 11 117785122 117785122 + Missense_Mutation SNP C C T TCGA-AB-2908-03A-01W-0745-08 TCGA-AB-2908-11A-01W-0745-08 C C C T C C Verified Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq 1 dbGAP Illumina HiSeq a5785202-6842-4bf5-a4f6-c4e39a1b6521 77e017cf-a152-4721-9e70-2ee2806ae6cc 11 117290332 117290332 C T SNP TMPRSS13 NM_001077263.1 human genbank 54_36p -1 validated missense c.664 p.D222N 0.962 NULL HMMPfam_Trypsin,HMMSmart_SM00020,superfamily_Trypsin-like serine proteases,HMMSmart_SM00202,superfamily_SRCR-like,PatternScan_TRYPSIN_HIS,PatternScan_TRYPSIN_SER - no_errors 190 14 6.86 105 81 43.55 5 0 0.00 +LOC338870 0 genome.wustl.edu 37 13 21668654 21668654 + RNA SNP G G A TCGA-AB-2908-03A-01W-0745-08 TCGA-AB-2908-11A-01W-0745-08 G G G A G G Verified Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq 1 dbGAP Illumina HiSeq a5785202-6842-4bf5-a4f6-c4e39a1b6521 77e017cf-a152-4721-9e70-2ee2806ae6cc 13 20566654 20566654 G A SNP LOC338870 XR_016327.2 human genbank 54_36p -1 model rna NULL NULL 1.000 - - - pseudogene 199 5 2.45 100 67 39.88 1 12 92.31 +POLE2 0 genome.wustl.edu 37 14 50118023 50118023 + Silent SNP G G T TCGA-AB-2908-03A-01W-0745-08 TCGA-AB-2908-11A-01W-0745-08 G G G T G G Verified Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq 1 dbGAP Illumina HiSeq a5785202-6842-4bf5-a4f6-c4e39a1b6521 77e017cf-a152-4721-9e70-2ee2806ae6cc 14 49187773 49187773 G T SNP POLE2 NM_002692.2 human genbank 54_36p -1 provisional silent c.1284 p.V428 1.000 HMMPfam_DNA_pol_E_B HMMPfam_DNA_pol_E_B - no_errors 104 0 0.00 99 49 33.11 34 30 46.88 +TJP1 0 genome.wustl.edu 37 15 30000833 30000833 + Missense_Mutation SNP A A G TCGA-AB-2908-03A-01W-0745-08 TCGA-AB-2908-11A-01W-0745-08 A A A G A A Verified Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq 1 dbGAP Illumina HiSeq a5785202-6842-4bf5-a4f6-c4e39a1b6521 77e017cf-a152-4721-9e70-2ee2806ae6cc 15 27788125 27788125 A G SNP TJP1 NM_003257.3 human genbank 54_36p -1 validated missense c.4780 p.S1594P 1.000 NULL HMMPfam_ZU5,HMMSmart_SM00218,superfamily_SH3-domain,HMMPfam_PDZ,HMMSmart_SM00228,superfamily_PDZ domain-like,HMMPfam_Guanylate_kin,HMMSmart_SM00072,HMMPfam_SH3_2,HMMPfam_Gua_kin_assoc_C,superfamily_P-loop containing nucleoside triphosphate hydrolases - no_errors 150 4 2.60 127 72 36.18 NA NA NA +CNTNAP4 0 genome.wustl.edu 37 16 76523672 76523672 + Missense_Mutation SNP G G A TCGA-AB-2908-03A-01W-0745-08 TCGA-AB-2908-11A-01W-0745-08 G G G A G G Verified Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq 1 dbGAP Illumina HiSeq a5785202-6842-4bf5-a4f6-c4e39a1b6521 77e017cf-a152-4721-9e70-2ee2806ae6cc 16 75081173 75081173 G A SNP CNTNAP4 NM_138994.3 human genbank 54_36p +1 validated missense c.1753 p.E585K 0.993 superfamily_Concanavalin A-like lectins/glucanases HMMPfam_F5_F8_type_C,HMMSmart_SM00231,PatternScan_FA58C_1,PatternScan_FA58C_2,HMMSmart_SM00282,superfamily_Fibrinogen C-terminal domain-like,HMMPfam_EGF,HMMSmart_SM00181,superfamily_Galactose-binding domain-like,superfamily_Concanavalin A-like lectins/glucanases,HMMPfam_Laminin_G_2 - no_errors 148 2 1.33 135 85 38.12 NA NA NA +TP53 0 genome.wustl.edu 37 17 7576897 7576897 + Nonsense_Mutation SNP G G A TCGA-AB-2908-03A-01W-0745-08 TCGA-AB-2908-11A-01W-0745-08 G G G A G G Verified Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq 1 dbGAP Illumina HiSeq a5785202-6842-4bf5-a4f6-c4e39a1b6521 77e017cf-a152-4721-9e70-2ee2806ae6cc 17 7517622 7517622 G A SNP TP53 NM_000546.4 human genbank 54_36p -1 reviewed nonsense c.949 p.Q317* 0.550 NULL PatternScan_P53,superfamily_p53-like transcription factors,HMMPfam_P53_tetramer,superfamily_p53 tetramerization domain,HMMPfam_P53,HMMPfam_P53_TAD - no_errors 409 1 0.24 198 133 39.94 43 6 12.24 +TP53 0 genome.wustl.edu 37 17 7578507 7578507 + Missense_Mutation SNP G G C TCGA-AB-2908-03A-01W-0745-08 TCGA-AB-2908-11A-01W-0745-08 G G G C G G Verified Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq 1 dbGAP Illumina HiSeq a5785202-6842-4bf5-a4f6-c4e39a1b6521 77e017cf-a152-4721-9e70-2ee2806ae6cc 17 7519232 7519232 G C SNP TP53 NM_000546.4 human genbank 54_36p -1 reviewed missense c.423 p.C141W 1.000 superfamily_p53-like transcription factors,HMMPfam_P53 PatternScan_P53,superfamily_p53-like transcription factors,HMMPfam_P53_tetramer,superfamily_p53 tetramerization domain,HMMPfam_P53,HMMPfam_P53_TAD - no_errors 185 2 1.07 152 49 24.02 17 43 71.67 +IKZF3 0 genome.wustl.edu 37 17 37922154 37922154 + Silent SNP G G A TCGA-AB-2908-03A-01W-0745-08 TCGA-AB-2908-11A-01W-0745-08 G G G A G G Verified Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq 1 dbGAP Illumina HiSeq a5785202-6842-4bf5-a4f6-c4e39a1b6521 77e017cf-a152-4721-9e70-2ee2806ae6cc 17 35175680 35175680 G A SNP IKZF3 NM_012481.3 human genbank 54_36p -1 reviewed silent c.1419 p.C473 1.000 PatternScan_ZINC_FINGER_C2H2_1,HMMSmart_SM00355,superfamily_C2H2 and C2HC zinc fingers HMMPfam_zf-C2H2,PatternScan_ZINC_FINGER_C2H2_1,HMMSmart_SM00355,superfamily_C2H2 and C2HC zinc fingers - no_errors 210 2 0.94 102 42 29.17 14 0 0.00 +CYP2F1 0 genome.wustl.edu 37 19 41630694 41630694 + Silent SNP C C T TCGA-AB-2908-03A-01W-0745-08 TCGA-AB-2908-11A-01W-0745-08 C C C T C C Verified Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq 1 dbGAP Illumina HiSeq a5785202-6842-4bf5-a4f6-c4e39a1b6521 77e017cf-a152-4721-9e70-2ee2806ae6cc 19 46322534 46322534 C T SNP CYP2F1 NM_000774.3 human genbank 54_36p +1 reviewed silent c.1035 p.A345 0.086 HMMPfam_p450,superfamily_Cytochrome P450 HMMPfam_p450,superfamily_Cytochrome P450,PatternScan_CYTOCHROME_P450 - no_errors 126 2 1.56 60 24 28.24 NA NA NA +C1orf105 0 genome.wustl.edu 37 1 172425583 172425583 + Frame_Shift_Del DEL T T - TCGA-AB-2908-03A-01W-0745-08 TCGA-AB-2908-11A-01W-0745-08 T T T - T T Verified Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq 1 dbGAP Illumina HiSeq a5785202-6842-4bf5-a4f6-c4e39a1b6521 77e017cf-a152-4721-9e70-2ee2806ae6cc 1 170692206 170692206 T - DEL C1orf105 NM_139240.2 human genbank 54_36p +1 predicted frame_shift_del c.227 p.L76fs 0.060 NULL NULL - no_errors 164 2 1.20 125 66 34.20 0 0 0.00 +KDM3B 0 genome.wustl.edu 37 5 137727800 137727800 + Frame_Shift_Del DEL C C - TCGA-AB-2908-03A-01W-0745-08 TCGA-AB-2908-11A-01W-0745-08 C C C - C C Verified Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq 1 dbGAP Illumina HiSeq a5785202-6842-4bf5-a4f6-c4e39a1b6521 77e017cf-a152-4721-9e70-2ee2806ae6cc 5 137755699 137755699 C - DEL JMJD1B NM_016604.3 human genbank 54_36p +1 validated frame_shift_del c.2479 p.Q827fs 1.000 NULL HMMSmart_SM00558,HMMPfam_JmjC,superfamily_Clavaminate synthase-like - no_errors 106 1 0.93 42 45 48.39 6 21 72.41 +FLT3 0 genome.wustl.edu 37 13 28608271 28608272 + In_Frame_Ins INS - - ATTCTG TCGA-AB-2909-03A-01W-0755-09 TCGA-AB-2909-11A-01W-0755-09 - - - ATTCTG - - Verified Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq 1 dbGAP Illumina HiSeq 39ad6508-a476-4a33-ae8d-6e25fa36369e 1019e10a-e958-4542-9266-f56f51834ac0 13 27506271 27506272 - ATTCTG INS FLT3 NM_004119.2 human genbank 54_36p -1 reviewed in_frame_ins c.1785_1784 p.R595in_frame_insSRI 0.996:0.999 superfamily_Kinase_like HMMPfam_Pkinase_Tyr,HMMSmart_TyrKc,PatternScan_RECEPTOR_TYR_KIN_III,PatternScan_PROTEIN_KINASE_TYR,superfamily_Kinase_like,HMMPfam_ig,PatternScan_PROTEIN_KINASE_ATP,superfamily_SSF48726 - no_errors NA NA NA NA NA NA NA NA NA +ATP2B3 0 genome.wustl.edu 37 X 152814259 152814259 + Missense_Mutation SNP G G T TCGA-AB-2910-03A-01W-0745-08 TCGA-AB-2910-11A-01W-0745-08 G G G T G G Verified Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq 1 dbGAP Illumina HiSeq 14873dc1-e10c-4d0f-b047-6ff5eb91f6fa 8dd5ac8c-f1e2-418b-b7a8-6c6ea3eb1f31 X 152467453 152467453 G T SNP ATP2B3 NM_001001344.1 human genbank 54_36p +1 reviewed missense c.1285 p.V429F 1.000 HMMPfam_E1-E2_ATPase,superfamily_Calcium ATPase transmembrane domain M HMMPfam_Cation_ATPase_N,HMMPfam_Hydrolase,HMMPfam_Cation_ATPase_C,HMMPfam_E1-E2_ATPase,PatternScan_ATPASE_E1_E2,superfamily_HAD-like,superfamily_Calcium ATPase transduction domain A,superfamily_Metal cation-transporting ATPase ATP-binding domain N,superfamily_Calcium ATPase transmembrane domain M - no_errors 58 3 4.92 175 105 37.10 NA NA NA +ZBTB7B 0 genome.wustl.edu 37 1 154987446 154987446 + Missense_Mutation SNP G G A TCGA-AB-2910-03A-01W-0745-08 TCGA-AB-2910-11A-01W-0745-08 G G G A G G Verified Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq 1 dbGAP Illumina HiSeq 14873dc1-e10c-4d0f-b047-6ff5eb91f6fa 8dd5ac8c-f1e2-418b-b7a8-6c6ea3eb1f31 1 153254070 153254070 G A SNP ZBTB7B NM_015872.2 human genbank 54_36p +1 validated missense c.310 p.E104K 1.000 HMMSmart_BTB,superfamily_BTB/POZ_fold,HMMPfam_BTB HMMSmart_BTB,HMMPfam_zf-C2H2,PatternScan_ZINC_FINGER_C2H2_1,superfamily_BTB/POZ_fold,HMMPfam_BTB,HMMSmart_ZnF_C2H2,superfamily_SSF57667 - no_errors 24 0 0.00 172 98 36.16 133 134 50.19 +LOC730032 0 genome.wustl.edu 37 2 131674642 131674642 + Silent SNP C C T TCGA-AB-2910-03A-01W-0745-08 TCGA-AB-2910-11A-01W-0745-08 C C C T C C Verified Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq 1 dbGAP Illumina HiSeq 14873dc1-e10c-4d0f-b047-6ff5eb91f6fa 8dd5ac8c-f1e2-418b-b7a8-6c6ea3eb1f31 2 131391112 131391112 C T SNP LOC730032 XM_001132160.2 human genbank 54_36p +1 model silent c.3123 p.Y1041 0.000 NULL NULL - no_errors 7 0 0.00 37 30 44.12 NA NA NA +AFF4 0 genome.wustl.edu 37 5 132228777 132228777 + Missense_Mutation SNP T T G TCGA-AB-2910-03A-01W-0745-08 TCGA-AB-2910-11A-01W-0745-08 T T T G T T Verified Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq 1 dbGAP Illumina HiSeq 14873dc1-e10c-4d0f-b047-6ff5eb91f6fa 8dd5ac8c-f1e2-418b-b7a8-6c6ea3eb1f31 5 132256676 132256676 T G SNP AFF4 NM_014423.3 human genbank 54_36p -1 validated missense c.2341 p.K781Q 1.000 HMMPfam_AF-4 HMMPfam_AF-4 - no_errors 75 1 1.32 89 47 33.81 13 14 51.85 +WEE2 0 genome.wustl.edu 37 7 141429357 141429357 + Missense_Mutation SNP A A T TCGA-AB-2910-03A-01W-0745-08 TCGA-AB-2910-11A-01W-0745-08 A A A T A A Verified Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq 1 dbGAP Illumina HiSeq 14873dc1-e10c-4d0f-b047-6ff5eb91f6fa 8dd5ac8c-f1e2-418b-b7a8-6c6ea3eb1f31 7 141075826 141075826 A T SNP WEE2 NM_001105558.1 human genbank 54_36p +1 validated missense c.1562 p.Q521L 0.043 NULL PatternScan_PROTEIN_KINASE_ST,superfamily_Kinase_like,PatternScan_PROTEIN_KINASE_ATP,HMMPfam_Pkinase - no_errors 73 3 3.95 116 67 36.22 NA NA NA +KCNU1 0 genome.wustl.edu 37 8 36666296 36666296 + Silent SNP G G A TCGA-AB-2910-03A-01W-0745-08 TCGA-AB-2910-11A-01W-0745-08 G G G A G G Verified Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq 1 dbGAP Illumina HiSeq 14873dc1-e10c-4d0f-b047-6ff5eb91f6fa 8dd5ac8c-f1e2-418b-b7a8-6c6ea3eb1f31 8 36785454 36785454 G A SNP KCNU1 NM_001031836.2 human genbank 54_36p +1 validated silent c.717 p.A239 1.000 HMMPfam_Ion_trans,superfamily_SSF81324 HMMPfam_BK_channel_a,HMMPfam_Ion_trans,superfamily_NAD(P)-bd,superfamily_SSF81324 - no_errors 64 2 2.99 143 74 34.10 NA NA NA +LOC392301 0 genome.wustl.edu 37 9 32333505 32333505 + RNA SNP C C T TCGA-AB-2910-03A-01W-0745-08 TCGA-AB-2910-11A-01W-0745-08 C C C T C C Verified Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq 1 dbGAP Illumina HiSeq 14873dc1-e10c-4d0f-b047-6ff5eb91f6fa 8dd5ac8c-f1e2-418b-b7a8-6c6ea3eb1f31 9 32323505 32323505 C T SNP LOC392301 XR_017331.2 human genbank 54_36p -1 model rna NULL NULL 1.000 - - - pseudogene 89 6 6.32 280 168 36.84 53 0 0.00 +KCNE3 0 genome.wustl.edu 37 11 74168526 74168526 + Missense_Mutation SNP T T C TCGA-AB-2910-03A-01W-0745-08 TCGA-AB-2910-11A-01W-0745-08 T T T C T T Verified Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq 1 dbGAP Illumina HiSeq 14873dc1-e10c-4d0f-b047-6ff5eb91f6fa 8dd5ac8c-f1e2-418b-b7a8-6c6ea3eb1f31 11 73846174 73846174 T C SNP KCNE3 NM_005472.4 human genbank 54_36p -1 reviewed missense c.83 p.N28S 0.512 NULL NULL - no_errors 38 1 2.56 77 34 30.09 20 16 44.44 +CKAP4 0 genome.wustl.edu 37 12 106633326 106633326 + Missense_Mutation SNP G G A TCGA-AB-2910-03A-01W-0745-08 TCGA-AB-2910-11A-01W-0745-08 G G G A G G Verified Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq 1 dbGAP Illumina HiSeq 14873dc1-e10c-4d0f-b047-6ff5eb91f6fa 8dd5ac8c-f1e2-418b-b7a8-6c6ea3eb1f31 12 105157456 105157456 G A SNP CKAP4 NM_006825.3 human genbank 54_36p -1 validated missense c.1285 p.R429C 0.000 NULL NULL - no_errors 14 0 0.00 65 12 15.58 25 10 28.57 +FLT3 0 genome.wustl.edu 37 13 28592642 28592642 + Missense_Mutation SNP C C G rs121913488 TCGA-AB-2910-03A-01W-0745-08 TCGA-AB-2910-11A-01W-0745-08 C C C G C C Verified Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq 1 dbGAP Illumina HiSeq 14873dc1-e10c-4d0f-b047-6ff5eb91f6fa 8dd5ac8c-f1e2-418b-b7a8-6c6ea3eb1f31 13 27490642 27490642 C G SNP FLT3 NM_004119.2 human genbank 54_36p -1 reviewed missense c.2503 p.D835H 1.000 HMMPfam_Pkinase_Tyr,HMMSmart_TyrKc,superfamily_Kinase_like HMMPfam_Pkinase_Tyr,HMMSmart_TyrKc,PatternScan_RECEPTOR_TYR_KIN_III,PatternScan_PROTEIN_KINASE_TYR,superfamily_Kinase_like,HMMPfam_ig,PatternScan_PROTEIN_KINASE_ATP,superfamily_SSF48726 - no_errors 44 0 0.00 100 46 30.46 401 313 43.78 +MBTPS1 0 genome.wustl.edu 37 16 84101360 84101360 + Missense_Mutation SNP C C T TCGA-AB-2910-03A-01W-0745-08 TCGA-AB-2910-11A-01W-0745-08 C C C T C C Verified Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq 1 dbGAP Illumina HiSeq 14873dc1-e10c-4d0f-b047-6ff5eb91f6fa 8dd5ac8c-f1e2-418b-b7a8-6c6ea3eb1f31 16 82658861 82658861 C T SNP MBTPS1 NM_003791.2 human genbank 54_36p -1 reviewed missense c.2140 p.V714M 0.992 NULL HMMPfam_Peptidase_S8,PatternScan_SUBTILASE_ASP,PatternScan_SUBTILASE_HIS,PatternScan_SUBTILASE_SER,superfamily_Pept_S8_S53 - no_errors 29 1 3.33 84 53 38.41 39 26 40.00 +CIC 0 genome.wustl.edu 37 19 42791518 42791518 + Missense_Mutation SNP G G A TCGA-AB-2910-03A-01W-0745-08 TCGA-AB-2910-11A-01W-0745-08 G G G A G G Verified Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq 1 dbGAP Illumina HiSeq 14873dc1-e10c-4d0f-b047-6ff5eb91f6fa 8dd5ac8c-f1e2-418b-b7a8-6c6ea3eb1f31 19 47483358 47483358 G A SNP CIC NM_015125.3 human genbank 54_36p +1 validated missense c.499 p.G167R 1.000 NULL HMMPfam_HMG_box,HMMSmart_HMG,superfamily_HMG-box - no_errors 30 1 3.23 91 37 28.91 47 67 58.26 +ARHGAP40 0 genome.wustl.edu 37 20 37257579 37257579 + Missense_Mutation SNP T T C TCGA-AB-2910-03A-01W-0745-08 TCGA-AB-2910-11A-01W-0745-08 T T T C T T Verified Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq 1 dbGAP Illumina HiSeq 14873dc1-e10c-4d0f-b047-6ff5eb91f6fa 8dd5ac8c-f1e2-418b-b7a8-6c6ea3eb1f31 20 36690993 36690993 T C SNP C20orf95 XM_293123.1 human genbank 54_36p +1 model missense c.409 p.S137P 0.003 NULL HMMPfam_RhoGAP,HMMSmart_SM00324,superfamily_GTPase activation domain GAP - no_errors 320 6 1.84 399 189 31.98 NA NA NA +TTC3 0 genome.wustl.edu 37 21 38538290 38538290 + Silent SNP C C T TCGA-AB-2910-03A-01W-0745-08 TCGA-AB-2910-11A-01W-0745-08 C C C T C C Verified Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq 1 dbGAP Illumina HiSeq 14873dc1-e10c-4d0f-b047-6ff5eb91f6fa 8dd5ac8c-f1e2-418b-b7a8-6c6ea3eb1f31 21 37460160 37460160 C T SNP TTC3 NM_001001894.1 human genbank 54_36p +1 validated silent c.3774 p.S1258 0.000 superfamily_Spectrin,superfamily_SSF48452 HMMPfam_TPR_1,HMMSmart_RING,HMMPfam_zf-C3HC4,HMMSmart_TPR,superfamily_Spectrin,superfamily_SSF48452,superfamily_SSF57850 - no_errors 37 2 5.13 89 54 37.24 29 47 61.84 +ATF7IP 0 genome.wustl.edu 37 12 14619468 14619471 + Frame_Shift_Del DEL ACAA ACAA - TCGA-AB-2910-03A-01W-0745-08 TCGA-AB-2910-11A-01W-0745-08 ACAA ACAA ACAA - ACAA ACAA Verified Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq 1 dbGAP Illumina HiSeq 14873dc1-e10c-4d0f-b047-6ff5eb91f6fa 8dd5ac8c-f1e2-418b-b7a8-6c6ea3eb1f31 12 14510735 14510738 ACAA - DEL ATF7IP NM_018179.3 human genbank 54_36p +1 validated frame_shift_del c.2806_2809 p.N937fs 0.999:0.994:0.986:0.999 NULL HMMPfam_fn3,superfamily_Fibronectin type III - no_errors NA NA NA NA NA NA NA NA NA +MYH15 0 genome.wustl.edu 37 3 108216937 108216937 + Missense_Mutation SNP C C T TCGA-AB-2911-03A-01W-0732-08 TCGA-AB-2911-11A-01W-0732-08 C C C T C C Verified Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq 1 dbGAP Illumina HiSeq e7c29989-01f5-4ff3-beb2-03439d5da71b e5629749-f529-4a81-9855-67a0f5fe8623 3 109699627 109699627 C T SNP MYH15 NM_014981.1 human genbank 54_36p -1 validated missense c.640 p.A214T 1.000 HMMPfam_Myosin_head,HMMSmart_SM00242,superfamily_P-loop containing nucleoside triphosphate hydrolases HMMPfam_Myosin_head,HMMSmart_SM00242,HMMPfam_Myosin_tail_1,HMMPfam_Myosin_N,superfamily_Prefoldin,superfamily_Spectrin repeat,superfamily_P-loop containing nucleoside triphosphate hydrolases - no_errors 69 6 8.00 156 119 43.12 3 0 0.00 +ADRBK1 0 genome.wustl.edu 37 11 67049291 67049291 + Splice_Site SNP A A G TCGA-AB-2911-03A-01W-0732-08 TCGA-AB-2911-11A-01W-0732-08 A A A G A A Verified Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq 1 dbGAP Illumina HiSeq e7c29989-01f5-4ff3-beb2-03439d5da71b e5629749-f529-4a81-9855-67a0f5fe8623 11 66805867 66805867 A G SNP ADRBK1 NM_001619.3 human genbank 54_36p +1 reviewed splice_site c.827-2 e11-2 1.000 - - - no_errors 8 0 0.00 33 7 17.50 0 144 90.00 +IGHG3 0 genome.wustl.edu 37 14 106234220 106234220 + Nonsense_Mutation SNP G G A TCGA-AB-2911-03A-01W-0732-08 TCGA-AB-2911-11A-01W-0732-08 G G G A G G Verified Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq 1 dbGAP Illumina HiSeq e7c29989-01f5-4ff3-beb2-03439d5da71b e5629749-f529-4a81-9855-67a0f5fe8623 14 105305265 105305265 G A SNP IGHG3 ENST00000390550 human ensembl 54_36p -1 known nonsense c.1186 p.R396* 0.991 NULL PatternScan_IG_MHC,HMMPfam_C1-set,HMMSmart_SM00407,superfamily_Immunoglobulin - no_start_codon:pseudogene:no_stop_codon:bad_bp_length_for_coding_region 8 0 0.00 50 57 53.27 3 0 0.00 +ZMAT1 0 genome.wustl.edu 37 X 101138748 101138751 + Frame_Shift_Del DEL CTTT CTTT - TCGA-AB-2911-03A-01W-0732-08 TCGA-AB-2911-11A-01W-0732-08 CTTT CTTT CTTT - CTTT CTTT Verified Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq 1 dbGAP Illumina HiSeq e7c29989-01f5-4ff3-beb2-03439d5da71b e5629749-f529-4a81-9855-67a0f5fe8623 X 101025404 101025407 CTTT - DEL ZMAT1 NM_001011657.1 human genbank 54_36p -1 validated frame_shift_del c.1651_1648 p.E550fs 0.192:0.427:0.556:0.570 NULL HMMSmart_SM00451,HMMPfam_zf-C2H2,PatternScan_ZINC_FINGER_C2H2_1,HMMPfam_zf-U1,HMMSmart_SM00355,superfamily_C2H2 and C2HC zinc fingers - no_errors NA NA NA NA NA NA NA NA NA +LOC642546 0 genome.wustl.edu 37 X 79828118 79828118 + RNA SNP C C T TCGA-AB-2912-03A-01W-0732-08 TCGA-AB-2912-11A-01W-0761-09 C C C T C C Verified Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq 1 dbGAP Illumina HiSeq da01cad7-961b-46e2-8a80-9c846694ad5b c362f010-f227-4bf7-9e9c-15c7a15ce496 X 79714774 79714774 C T SNP LOC642546 XR_038841.1 human genbank 54_36p -1 model rna NULL NULL 1.000 - - - pseudogene 58 4 6.45 21 65 75.58 14 0 0.00 +RPS6KA6 0 genome.wustl.edu 37 X 83320023 83320023 + Missense_Mutation SNP G G A TCGA-AB-2912-03A-01W-0732-08 TCGA-AB-2912-11A-01W-0761-09 G G G A G G Verified Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq 1 dbGAP Illumina HiSeq da01cad7-961b-46e2-8a80-9c846694ad5b c362f010-f227-4bf7-9e9c-15c7a15ce496 X 83206679 83206679 G A SNP RPS6KA6 NM_014496.2 human genbank 54_36p -1 provisional missense c.2068 p.P690S 1.000 superfamily_Protein kinase-like (PK-like) PatternScan_SERPIN,HMMSmart_SM00133,HMMSmart_SM00219,HMMSmart_SM00220,PatternScan_PROTEIN_KINASE_ST,superfamily_Protein kinase-like (PK-like),PatternScan_PROTEIN_KINASE_ATP,HMMPfam_Pkinase,HMMPfam_Pkinase_C - no_errors 94 1 1.05 69 16 18.82 NA NA NA +BCAN 0 genome.wustl.edu 37 1 156617332 156617332 + Missense_Mutation SNP C C T TCGA-AB-2912-03A-01W-0732-08 TCGA-AB-2912-11A-01W-0761-09 C C C T C C Verified Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq 1 dbGAP Illumina HiSeq da01cad7-961b-46e2-8a80-9c846694ad5b c362f010-f227-4bf7-9e9c-15c7a15ce496 1 154883956 154883956 C T SNP BCAN NM_021948.3 human genbank 54_36p +1 validated missense c.499 p.R167C 1.000 HMMPfam_Xlink,HMMSmart_SM00445,superfamily_C-type lectin-like HMMPfam_Sushi,HMMSmart_SM00032,HMMPfam_Xlink,HMMSmart_SM00445,PatternScan_LINK_1,HMMPfam_Lectin_C,HMMSmart_SM00034,PatternScan_IG_MHC,HMMSmart_SM00406,HMMSmart_SM00409,HMMPfam_EGF,HMMSmart_SM00181,PatternScan_EGF_1,PatternScan_EGF_2,HMMPfam_V-set,superfamily_Complement control module/SCR domain,superfamily_C-type lectin-like,PatternScan_C_TYPE_LECTIN_1,superfamily_Immunoglobulin,superfamily_EGF/Laminin - no_errors 121 2 1.63 146 113 43.63 NA NA NA +ADSS 0 genome.wustl.edu 37 1 244580929 244580929 + Splice_Site SNP C C T TCGA-AB-2912-03A-01W-0732-08 TCGA-AB-2912-11A-01W-0761-09 C C C T C C Verified Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq 1 dbGAP Illumina HiSeq da01cad7-961b-46e2-8a80-9c846694ad5b c362f010-f227-4bf7-9e9c-15c7a15ce496 1 242647552 242647552 C T SNP ADSS NM_001126.2 human genbank 54_36p -1 reviewed splice_site c.1070+1 e10+1 1.000 - - - no_errors 92 0 0.00 87 41 32.03 8 3 27.27 +DNMT3A 0 genome.wustl.edu 37 2 25463308 25463308 + Missense_Mutation SNP G G A TCGA-AB-2912-03A-01W-0732-08 TCGA-AB-2912-11A-01W-0761-09 G G G A G G Verified Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq 1 dbGAP Illumina HiSeq da01cad7-961b-46e2-8a80-9c846694ad5b c362f010-f227-4bf7-9e9c-15c7a15ce496 2 25316812 25316812 G A SNP DNMT3A NM_022552.3 human genbank 54_36p -1 reviewed missense c.2185 p.R729W 1.000 HMMPfam_DNA_methylase,superfamily_S-adenosyl-L-methionine-dependent methyltransferases HMMPfam_PWWP,HMMSmart_SM00293,HMMPfam_DNA_methylase,superfamily_FYVE/PHD zinc finger,PatternScan_C5_MTASE_1,superfamily_S-adenosyl-L-methionine-dependent methyltransferases,superfamily_Tudor/PWWP/MBT - no_errors 19 0 0.00 27 26 49.06 15 10 40.00 +ZNF638 0 genome.wustl.edu 37 2 71654223 71654223 + Missense_Mutation SNP G G A TCGA-AB-2912-03A-01W-0732-08 TCGA-AB-2912-11A-01W-0761-09 G G G A G G Verified Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq 1 dbGAP Illumina HiSeq da01cad7-961b-46e2-8a80-9c846694ad5b c362f010-f227-4bf7-9e9c-15c7a15ce496 2 71507731 71507731 G A SNP ZNF638 NM_001014972.1 human genbank 54_36p +1 reviewed missense c.5224 p.D1742N 1.000 NULL HMMPfam_RRM_1,HMMSmart_SM00360,HMMSmart_SM00451,PatternScan_ZINC_FINGER_C2H2_1,HMMSmart_SM00355,superfamily_RNA-binding domain RBD - no_errors 192 1 0.52 136 62 31.31 41 41 50.00 +SCN3A 0 genome.wustl.edu 37 2 166003485 166003485 + Missense_Mutation SNP C C G TCGA-AB-2912-03A-01W-0732-08 TCGA-AB-2912-11A-01W-0761-09 C C C G C C Verified Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq 1 dbGAP Illumina HiSeq da01cad7-961b-46e2-8a80-9c846694ad5b c362f010-f227-4bf7-9e9c-15c7a15ce496 2 165711731 165711731 C G SNP SCN3A NM_006922.1 human genbank 54_36p -1 reviewed missense c.1435 p.G479R 0.985 NULL HMMPfam_IQ,HMMSmart_IQ,HMMPfam_Ion_trans,HMMPfam_Na_trans_assoc,superfamily_SSF81324 - no_errors 88 4 4.35 97 66 40.49 NA NA NA +POC1A 0 genome.wustl.edu 37 3 52172304 52172304 + Missense_Mutation SNP C C T TCGA-AB-2912-03A-01W-0732-08 TCGA-AB-2912-11A-01W-0761-09 C C C T C C Verified Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq 1 dbGAP Illumina HiSeq da01cad7-961b-46e2-8a80-9c846694ad5b c362f010-f227-4bf7-9e9c-15c7a15ce496 3 52147344 52147344 C T SNP WDR51A NM_015426.3 human genbank 54_36p -1 provisional missense c.694 p.V232M 0.999 HMMSmart_SM00320,superfamily_WD40 repeat-like,HMMPfam_WD40 HMMSmart_SM00320,superfamily_WD40 repeat-like,PatternScan_WD_REPEATS_1,HMMPfam_WD40 - no_errors 121 2 1.63 131 108 45.19 13 12 48.00 +ILDR1 0 genome.wustl.edu 37 3 121725901 121725901 + Missense_Mutation SNP C C T TCGA-AB-2912-03A-01W-0732-08 TCGA-AB-2912-11A-01W-0761-09 C C C T C C Verified Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq 1 dbGAP Illumina HiSeq da01cad7-961b-46e2-8a80-9c846694ad5b c362f010-f227-4bf7-9e9c-15c7a15ce496 3 123208591 123208591 C T SNP ILDR1 NM_175924.2 human genbank 54_36p -1 provisional missense c.166 p.V56M 0.997 HMMSmart_IG,superfamily_SSF48726 HMMSmart_IG,HMMPfam_LSR,superfamily_SSF48726 - no_errors 122 2 1.61 153 98 39.04 0 1 100.00 +KDR 0 genome.wustl.edu 37 4 55964954 55964954 + Silent SNP C C T TCGA-AB-2912-03A-01W-0732-08 TCGA-AB-2912-11A-01W-0761-09 C C C T C C Verified Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq 1 dbGAP Illumina HiSeq da01cad7-961b-46e2-8a80-9c846694ad5b c362f010-f227-4bf7-9e9c-15c7a15ce496 4 55659711 55659711 C T SNP KDR NM_002253.2 human genbank 54_36p -1 validated silent c.2283 p.T761 0.682 NULL HMMPfam_Pkinase_Tyr,HMMSmart_TyrKc,PatternScan_RECEPTOR_TYR_KIN_III,HMMSmart_IGc2,HMMSmart_IG,PatternScan_PROTEIN_KINASE_TYR,superfamily_Kinase_like,HMMPfam_I-set,HMMPfam_V-set,HMMPfam_ig,PatternScan_PROTEIN_KINASE_ATP,superfamily_SSF48726 - no_errors 84 0 0.00 95 52 35.37 NA NA NA +LOC100128322 0 genome.wustl.edu 37 6 132147334 132147334 + RNA SNP C C T TCGA-AB-2912-03A-01W-0732-08 TCGA-AB-2912-11A-01W-0761-09 C C C T C C Verified Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq 1 dbGAP Illumina HiSeq da01cad7-961b-46e2-8a80-9c846694ad5b c362f010-f227-4bf7-9e9c-15c7a15ce496 6 132189027 132189027 C T SNP LOC100128322 XR_039280.1 human genbank 54_36p -1 model rna NULL NULL 0.998 - - - pseudogene 49 1 2.00 57 46 44.66 0 0 0.00 +DUSP26 0 genome.wustl.edu 37 8 33451143 33451143 + Missense_Mutation SNP C C A TCGA-AB-2912-03A-01W-0732-08 TCGA-AB-2912-11A-01W-0761-09 C C C A C C Verified Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq 1 dbGAP Illumina HiSeq da01cad7-961b-46e2-8a80-9c846694ad5b c362f010-f227-4bf7-9e9c-15c7a15ce496 8 33570685 33570685 C A SNP DUSP26 NM_024025.1 human genbank 54_36p -1 provisional missense c.344 p.G115V 1.000 HMMPfam_DSPc,HMMSmart_SM00195,superfamily_(Phosphotyrosine protein) phosphatases II HMMPfam_DSPc,PatternScan_TYR_PHOSPHATASE_1,HMMSmart_SM00195,superfamily_(Phosphotyrosine protein) phosphatases II - no_errors 106 0 0.00 155 78 33.33 NA NA NA +KCNU1 0 genome.wustl.edu 37 8 36641947 36641947 + Nonsense_Mutation SNP C C T TCGA-AB-2912-03A-01W-0732-08 TCGA-AB-2912-11A-01W-0761-09 C C C T C C Verified Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq 1 dbGAP Illumina HiSeq da01cad7-961b-46e2-8a80-9c846694ad5b c362f010-f227-4bf7-9e9c-15c7a15ce496 8 36761105 36761105 C T SNP KCNU1 NM_001031836.2 human genbank 54_36p +1 validated nonsense c.19 p.R7* 0.000 NULL HMMPfam_BK_channel_a,HMMPfam_Ion_trans,superfamily_NAD(P)-bd,superfamily_SSF81324 - no_errors 112 1 0.88 157 73 31.74 NA NA NA +KHDRBS3 0 genome.wustl.edu 37 8 136554945 136554945 + Missense_Mutation SNP C C T TCGA-AB-2912-03A-01W-0732-08 TCGA-AB-2912-11A-01W-0761-09 C C C T C C Verified Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq 1 dbGAP Illumina HiSeq da01cad7-961b-46e2-8a80-9c846694ad5b c362f010-f227-4bf7-9e9c-15c7a15ce496 8 136624127 136624127 C T SNP KHDRBS3 NM_006558.1 human genbank 54_36p +1 provisional missense c.256 p.R86C 1.000 HMMSmart_SM00322,superfamily_Eukaryotic type KH-domain (KH-domain type I) HMMSmart_SM00322,superfamily_Eukaryotic type KH-domain (KH-domain type I) - no_errors 124 1 0.80 206 66 24.26 NA NA NA +SMC3 0 genome.wustl.edu 37 10 112343991 112343991 + Missense_Mutation SNP G G A TCGA-AB-2912-03A-01W-0732-08 TCGA-AB-2912-11A-01W-0761-09 G G G A G G Verified Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq 1 dbGAP Illumina HiSeq da01cad7-961b-46e2-8a80-9c846694ad5b c362f010-f227-4bf7-9e9c-15c7a15ce496 10 112333981 112333981 G A SNP SMC3 NM_005445.3 human genbank 54_36p +1 reviewed missense c.1142 p.R381Q 1.000 HMMPfam_SMC_N,superfamily_P-loop containing nucleoside triphosphate hydrolases HMMPfam_SMC_N,HMMPfam_SMC_hinge,superfamily_Smc hinge domain,PatternScan_ABC_TRANSPORTER_1,superfamily_P-loop containing nucleoside triphosphate hydrolases,superfamily_BAG domain - no_errors 102 2 1.92 120 64 34.78 51 34 40.00 +DOCK1 0 genome.wustl.edu 37 10 128840889 128840889 + Missense_Mutation SNP T T A TCGA-AB-2912-03A-01W-0732-08 TCGA-AB-2912-11A-01W-0761-09 T T T A T T Verified Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq 1 dbGAP Illumina HiSeq da01cad7-961b-46e2-8a80-9c846694ad5b c362f010-f227-4bf7-9e9c-15c7a15ce496 10 128730879 128730879 T A SNP DOCK1 ENST00000398025 human ensembl 54_36p +1 known missense c.1948 p.F650I 1.000 NULL HMMPfam_SH3_1,HMMSmart_SH3,superfamily_SH3,superfamily_Cytochrome_c - no_errors 138 0 0.00 107 71 39.89 3 10 76.92 +PUS1 0 genome.wustl.edu 37 12 132425864 132425864 + Missense_Mutation SNP A A T TCGA-AB-2912-03A-01W-0732-08 TCGA-AB-2912-11A-01W-0761-09 A A A T A A Verified Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq 1 dbGAP Illumina HiSeq da01cad7-961b-46e2-8a80-9c846694ad5b c362f010-f227-4bf7-9e9c-15c7a15ce496 12 130991817 130991817 A T SNP PUS1 NM_025215.1 human genbank 54_36p +1 validated missense c.572 p.N191I 1.000 HMMPfam_PseudoU_synth_1,superfamily_Pseudouridine synthase HMMPfam_PseudoU_synth_1,superfamily_Pseudouridine synthase - no_errors 38 0 0.00 54 45 45.45 11 14 56.00 +CCDC33 0 genome.wustl.edu 37 15 74536466 74536466 + Silent SNP C C T TCGA-AB-2912-03A-01W-0732-08 TCGA-AB-2912-11A-01W-0761-09 C C C T C C Verified Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq 1 dbGAP Illumina HiSeq da01cad7-961b-46e2-8a80-9c846694ad5b c362f010-f227-4bf7-9e9c-15c7a15ce496 15 72323519 72323519 C T SNP CCDC33 NM_025055.3 human genbank 54_36p +1 validated silent c.162 p.S54 0.120 HMMPfam_C2,superfamily_C2 domain (Calcium/lipid-binding domain CaLB) HMMPfam_C2,superfamily_C2 domain (Calcium/lipid-binding domain CaLB) - no_errors 159 0 0.00 229 32 12.21 NA NA NA +SLC25A35 0 genome.wustl.edu 37 17 8198093 8198093 + Silent SNP G G A TCGA-AB-2912-03A-01W-0732-08 TCGA-AB-2912-11A-01W-0761-09 G G G A G G Verified Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq 1 dbGAP Illumina HiSeq da01cad7-961b-46e2-8a80-9c846694ad5b c362f010-f227-4bf7-9e9c-15c7a15ce496 17 8138818 8138818 G A SNP SLC25A35 NM_201520.1 human genbank 54_36p -1 provisional silent c.33 p.C11 0.992 superfamily_Mitoch_carrier,HMMPfam_Mito_carr superfamily_Mitoch_carrier,HMMPfam_Mito_carr - no_errors 68 0 0.00 95 58 37.91 0 4 100.00 +KRT19 0 genome.wustl.edu 37 17 39680218 39680218 + Missense_Mutation SNP G G C TCGA-AB-2912-03A-01W-0732-08 TCGA-AB-2912-11A-01W-0761-09 G G G C G G Verified Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq 1 dbGAP Illumina HiSeq da01cad7-961b-46e2-8a80-9c846694ad5b c362f010-f227-4bf7-9e9c-15c7a15ce496 17 36933744 36933744 G C SNP KRT19 NM_002276.4 human genbank 54_36p -1 reviewed missense c.980 p.T327R 0.990 HMMPfam_Filament superfamily_Prefoldin,HMMPfam_Filament,PatternScan_IF - no_errors 35 2 5.41 56 34 37.78 NA NA NA +UQCC 0 genome.wustl.edu 37 20 33962000 33962000 + Missense_Mutation SNP C C A TCGA-AB-2912-03A-01W-0732-08 TCGA-AB-2912-11A-01W-0761-09 C C C A C C Verified Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq 1 dbGAP Illumina HiSeq da01cad7-961b-46e2-8a80-9c846694ad5b c362f010-f227-4bf7-9e9c-15c7a15ce496 20 33425414 33425414 C A SNP UQCC NM_018244.3 human genbank 54_36p -1 validated missense c.393 p.E131D 1.000 NULL HMMPfam_Ubiq_cyt_C_chap - no_errors 112 4 3.45 99 67 40.36 17 8 32.00 +RUNX1 0 genome.wustl.edu 37 21 36252877 36252877 + Missense_Mutation SNP C C T TCGA-AB-2912-03A-01W-0732-08 TCGA-AB-2912-11A-01W-0761-09 C C C T C C Verified Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq 1 dbGAP Illumina HiSeq da01cad7-961b-46e2-8a80-9c846694ad5b c362f010-f227-4bf7-9e9c-15c7a15ce496 21 35174747 35174747 C T SNP RUNX1 NM_001754.2 human genbank 54_36p -1 reviewed missense c.485 p.R162K 1.000 superfamily_p53-like transcription factors,HMMPfam_Runt superfamily_p53-like transcription factors,HMMPfam_Runt,HMMPfam_RunxI - no_errors 49 2 3.92 36 22 37.93 230 215 48.31 +U2AF1 0 genome.wustl.edu 37 21 44524456 44524456 + Missense_Mutation SNP G G A TCGA-AB-2912-03A-01W-0732-08 TCGA-AB-2912-11A-01W-0761-09 G G G A G G Verified Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq 1 dbGAP Illumina HiSeq da01cad7-961b-46e2-8a80-9c846694ad5b c362f010-f227-4bf7-9e9c-15c7a15ce496 21 43397525 43397525 G A SNP U2AF1 NM_001025203.1 human genbank 54_36p -1 reviewed missense c.101 p.S34F 1.000 HMMPfam_zf-CCCH,HMMSmart_ZnF_C3H1 HMMPfam_RRM_1,HMMSmart_RRM,HMMPfam_zf-CCCH,HMMSmart_ZnF_C3H1,superfamily_SSF54928 - no_errors 39 0 0.00 55 31 36.05 78 69 46.94 +PHF6 0 genome.wustl.edu 37 X 133511712 133511713 + Frame_Shift_Ins INS - - A TCGA-AB-2912-03A-01W-0732-08 TCGA-AB-2912-11A-01W-0761-09 - - - A - - Verified Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq 1 dbGAP Illumina HiSeq da01cad7-961b-46e2-8a80-9c846694ad5b c362f010-f227-4bf7-9e9c-15c7a15ce496 X 133339378 133339379 - A INS PHF6 NM_001015877.1 human genbank 54_36p +1 reviewed frame_shift_ins c.65_66 p.N23fs 1.000:1.000 NULL HMMSmart_SM00249,superfamily_FYVE/PHD zinc finger - no_errors 24 0 0.00 17 31 64.58 4 8 66.67 +STAG2 0 genome.wustl.edu 37 X 123200288 123200288 + Splice_Site SNP T T C TCGA-AB-2913-03A-01W-0732-08 TCGA-AB-2913-11A-01W-0732-08 T T T C T T Verified Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq 1 dbGAP Illumina HiSeq 8efe9ea1-d3b2-4fe0-a602-d91c6fdedeb4 7543443c-c06e-445e-a2bd-aae43484175a X 123027969 123027969 T C SNP STAG2 NM_001042749.1 human genbank 54_36p +1 validated splice_site c.2265+2 e21+2 1.000 - - - no_errors 63 2 3.08 11 64 85.33 0 100 100.00 +ATP2B2 0 genome.wustl.edu 37 3 10387072 10387072 + Missense_Mutation SNP G G A TCGA-AB-2913-03A-01W-0732-08 TCGA-AB-2913-11A-01W-0732-08 G G G A G G Verified Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq 1 dbGAP Illumina HiSeq 8efe9ea1-d3b2-4fe0-a602-d91c6fdedeb4 7543443c-c06e-445e-a2bd-aae43484175a 3 10362072 10362072 G A SNP ATP2B2 NM_001001331.2 human genbank 54_36p -1 reviewed missense c.2699 p.T900M 1.000 superfamily_Calcium ATPase transmembrane domain M HMMPfam_Cation_ATPase_N,HMMPfam_Hydrolase,HMMPfam_Cation_ATPase_C,HMMPfam_E1-E2_ATPase,PatternScan_ATPASE_E1_E2,superfamily_HAD-like,superfamily_Calcium ATPase transduction domain A,superfamily_Metal cation-transporting ATPase ATP-binding domain N,superfamily_Calcium ATPase transmembrane domain M - no_errors 375 14 3.60 125 77 38.12 NA NA NA +MST1 0 genome.wustl.edu 37 3 49723916 49723916 + Splice_Site SNP T T G TCGA-AB-2913-03A-01W-0732-08 TCGA-AB-2913-11A-01W-0732-08 T T T G T T Verified Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq 1 dbGAP Illumina HiSeq 8efe9ea1-d3b2-4fe0-a602-d91c6fdedeb4 7543443c-c06e-445e-a2bd-aae43484175a 3 49698920 49698920 T G SNP MST1 NM_020998.3 human genbank 54_36p -1 validated splice_site c.806-2 e8-2 0.046 - - - no_errors 66 2 2.94 29 12 29.27 0 0 0.00 +ADAMTS9 0 genome.wustl.edu 37 3 64532572 64532572 + Silent SNP A A T TCGA-AB-2913-03A-01W-0732-08 TCGA-AB-2913-11A-01W-0732-08 A A A T A A Verified Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq 1 dbGAP Illumina HiSeq 8efe9ea1-d3b2-4fe0-a602-d91c6fdedeb4 7543443c-c06e-445e-a2bd-aae43484175a 3 64507612 64507612 A T SNP ADAMTS9 NM_182920.1 human genbank 54_36p -1 reviewed silent c.4926 p.I1642 1.000 HMMSmart_SM00209,superfamily_TSP-1 type 1 repeat HMMPfam_TSP_1,HMMSmart_SM00209,superfamily_TSP-1 type 1 repeat,HMMPfam_Reprolysin,HMMPfam_Pep_M12B_propep,HMMPfam_ADAM_spacer1,HMMPfam_GON,superfamily_Metalloproteases ("zincins") catalytic domain - no_errors 130 5 3.60 150 148 49.50 NA NA NA +RGNEF 0 genome.wustl.edu 37 5 73136563 73136563 + Missense_Mutation SNP C C A TCGA-AB-2913-03A-01W-0732-08 TCGA-AB-2913-11A-01W-0732-08 C C C A C C Verified Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq 1 dbGAP Illumina HiSeq 8efe9ea1-d3b2-4fe0-a602-d91c6fdedeb4 7543443c-c06e-445e-a2bd-aae43484175a 5 73172319 73172319 C A SNP RGNEF NM_001080479.1 human genbank 54_36p +1 provisional missense c.1405 p.Q469K 0.990 NULL HMMPfam_RhoGEF,HMMSmart_SM00325,superfamily_DBL homology domain (DH-domain),HMMPfam_PH,HMMSmart_SM00233,HMMPfam_C1_1,HMMSmart_SM00109,PatternScan_ZF_DAG_PE_1,superfamily_PH domain-like,superfamily_Cysteine-rich domain - no_errors 118 5 4.07 76 66 45.21 NA NA NA +EPPK1 0 genome.wustl.edu 37 8 144940331 144940331 + Missense_Mutation SNP C C T TCGA-AB-2913-03A-01W-0732-08 TCGA-AB-2913-11A-01W-0732-08 C C C T C C Verified Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq 1 dbGAP Illumina HiSeq 8efe9ea1-d3b2-4fe0-a602-d91c6fdedeb4 7543443c-c06e-445e-a2bd-aae43484175a 8 145012319 145012319 C T SNP EPPK1 NM_031308.1 human genbank 54_36p -1 provisional missense c.7016 p.R2339Q 0.999 HMMPfam_Plectin,HMMSmart_SM00250,superfamily_Plakin repeat HMMPfam_Plectin,HMMSmart_SM00250,superfamily_Plakin repeat - no_stop_codon:bad_bp_length_for_coding_region 113 0 0.00 36 6 13.95 1 0 0.00 +WT1 0 genome.wustl.edu 37 11 32417802 32417802 + Splice_Site SNP C C G TCGA-AB-2913-03A-01W-0732-08 TCGA-AB-2913-11A-01W-0732-08 C C C G C C Verified Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq 1 dbGAP Illumina HiSeq 8efe9ea1-d3b2-4fe0-a602-d91c6fdedeb4 7543443c-c06e-445e-a2bd-aae43484175a 11 32374378 32374378 C G SNP WT1 NM_024426.3 human genbank 54_36p -1 reviewed splice_site c.1249+1 e7+1 1.000 - - - no_errors 150 18 10.71 8 69 89.61 0 5 100.00 +ALPK3 0 genome.wustl.edu 37 15 85401206 85401206 + Silent SNP G G A TCGA-AB-2913-03A-01W-0732-08 TCGA-AB-2913-11A-01W-0732-08 G G G A G G Verified Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq 1 dbGAP Illumina HiSeq 8efe9ea1-d3b2-4fe0-a602-d91c6fdedeb4 7543443c-c06e-445e-a2bd-aae43484175a 15 83202210 83202210 G A SNP ALPK3 NM_020778.4 human genbank 54_36p +1 validated silent c.3843 p.E1281 0.865 NULL HMMSmart_SM00408,HMMSmart_SM00409,HMMPfam_Alpha_kinase,HMMSmart_SM00811,superfamily_Protein kinase-like (PK-like),HMMPfam_I-set,superfamily_Immunoglobulin - no_errors 122 4 3.17 80 70 46.36 NA NA NA +ADAMTS17 0 genome.wustl.edu 37 15 100589063 100589063 + Missense_Mutation SNP G G A TCGA-AB-2913-03A-01W-0732-08 TCGA-AB-2913-11A-01W-0732-08 G G G A G G Verified Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq 1 dbGAP Illumina HiSeq 8efe9ea1-d3b2-4fe0-a602-d91c6fdedeb4 7543443c-c06e-445e-a2bd-aae43484175a 15 98406586 98406586 G A SNP ADAMTS17 NM_139057.2 human genbank 54_36p -1 reviewed missense c.2590 p.R864W 0.986 HMMPfam_TSP_1,HMMSmart_SM00209,superfamily_TSP-1 type 1 repeat HMMPfam_TSP_1,HMMSmart_SM00209,superfamily_TSP-1 type 1 repeat,HMMPfam_Reprolysin,HMMPfam_Pep_M12B_propep,HMMSmart_SM00608,PatternScan_ZINC_FINGER_C2H2_1,HMMPfam_ADAM_spacer1,HMMPfam_PLAC,superfamily_Metalloproteases ("zincins") catalytic domain - no_errors 208 17 7.52 61 38 38.38 NA NA NA +ZNF646 0 genome.wustl.edu 37 16 31090269 31090269 + Missense_Mutation SNP C C T TCGA-AB-2913-03A-01W-0732-08 TCGA-AB-2913-11A-01W-0732-08 C C C T C C Verified Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq 1 dbGAP Illumina HiSeq 8efe9ea1-d3b2-4fe0-a602-d91c6fdedeb4 7543443c-c06e-445e-a2bd-aae43484175a 16 30997770 30997770 C T SNP ZNF646 NM_014699.3 human genbank 54_36p +1 validated missense c.2624 p.A875V 0.122 NULL HMMPfam_zf-C2H2,PatternScan_ZINC_FINGER_C2H2_1,HMMSmart_SM00355,superfamily_C2H2 and C2HC zinc fingers - no_errors 385 49 11.24 43 38 45.78 3 7 70.00 +TOX3 0 genome.wustl.edu 37 16 52479987 52479987 + Silent SNP A A T TCGA-AB-2913-03A-01W-0732-08 TCGA-AB-2913-11A-01W-0732-08 A A A T A A Verified Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq 1 dbGAP Illumina HiSeq 8efe9ea1-d3b2-4fe0-a602-d91c6fdedeb4 7543443c-c06e-445e-a2bd-aae43484175a 16 51037488 51037488 A T SNP TOX3 NM_001080430.1 human genbank 54_36p -1 provisional silent c.825 p.G275 0.973 HMMPfam_HMG_box,HMMSmart_HMG,superfamily_HMG-box HMMPfam_HMG_box,HMMSmart_HMG,superfamily_HMG-box - no_errors 364 10 2.67 224 152 40.11 NA NA NA +HSD17B1 0 genome.wustl.edu 37 17 40706488 40706488 + Missense_Mutation SNP A A G TCGA-AB-2913-03A-01W-0732-08 TCGA-AB-2913-11A-01W-0732-08 A A A G A A Verified Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq 1 dbGAP Illumina HiSeq 8efe9ea1-d3b2-4fe0-a602-d91c6fdedeb4 7543443c-c06e-445e-a2bd-aae43484175a 17 37960014 37960014 A G SNP HSD17B1 NM_000413.2 human genbank 54_36p +1 validated missense c.605 p.E202G 0.008 superfamily_NAD(P)-binding Rossmann-fold domains HMMPfam_adh_short,PatternScan_ADH_SHORT,superfamily_NAD(P)-binding Rossmann-fold domains - no_errors 160 13 7.47 36 40 51.28 10 3 23.08 +TMEM104 0 genome.wustl.edu 37 17 72791224 72791224 + Silent SNP G G A TCGA-AB-2913-03A-01W-0732-08 TCGA-AB-2913-11A-01W-0732-08 G G G A G G Verified Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq 1 dbGAP Illumina HiSeq 8efe9ea1-d3b2-4fe0-a602-d91c6fdedeb4 7543443c-c06e-445e-a2bd-aae43484175a 17 70302819 70302819 G A SNP TMEM104 NM_017728.3 human genbank 54_36p +1 validated silent c.501 p.V167 1.000 NULL HMMPfam_Aa_trans - no_errors 604 35 5.46 126 117 47.37 12 13 52.00 +FKBP8 0 genome.wustl.edu 37 19 18652580 18652580 + Silent SNP C C T TCGA-AB-2913-03A-01W-0732-08 TCGA-AB-2913-11A-01W-0732-08 C C C T C C Verified Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq 1 dbGAP Illumina HiSeq 8efe9ea1-d3b2-4fe0-a602-d91c6fdedeb4 7543443c-c06e-445e-a2bd-aae43484175a 19 18513580 18513580 C T SNP FKBP8 NM_012181.3 human genbank 54_36p -1 reviewed silent c.201 p.E67 0.994 superfamily_SSF54534 HMMPfam_FKBP_C,HMMPfam_TPR_1,superfamily_SSF48452,superfamily_SSF54534 - no_errors 606 39 6.05 47 32 40.00 39 33 45.83 +EGLN2 0 genome.wustl.edu 37 19 41306984 41306984 + Silent SNP G G A TCGA-AB-2913-03A-01W-0732-08 TCGA-AB-2913-11A-01W-0732-08 G G G A G G Verified Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq 1 dbGAP Illumina HiSeq 8efe9ea1-d3b2-4fe0-a602-d91c6fdedeb4 7543443c-c06e-445e-a2bd-aae43484175a 19 45998824 45998824 G A SNP EGLN2 NM_053046.2 human genbank 54_36p +1 reviewed silent c.507 p.A169 0.001 NULL HMMPfam_2OG-FeII_Oxy,HMMSmart_SM00702 - no_errors 158 1 0.63 50 47 47.96 8 8 50.00 +ZNF548 0 genome.wustl.edu 37 19 57911210 57911210 + Missense_Mutation SNP A A G TCGA-AB-2913-03A-01W-0732-08 TCGA-AB-2913-11A-01W-0732-08 A A A G A A Verified Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq 1 dbGAP Illumina HiSeq 8efe9ea1-d3b2-4fe0-a602-d91c6fdedeb4 7543443c-c06e-445e-a2bd-aae43484175a 19 62603022 62603022 A G SNP ZNF548 NM_152909.2 human genbank 54_36p +1 provisional missense c.1555 p.T519A 0.000 NULL HMMPfam_KRAB,HMMSmart_SM00349,superfamily_KRAB domain (Kruppel-associated box Pfam 01352),HMMPfam_zf-C2H2,PatternScan_ZINC_FINGER_C2H2_1,HMMSmart_SM00355,superfamily_C2H2 and C2HC zinc fingers - no_errors 549 33 5.65 278 200 41.41 13 16 55.17 +NPM1 0 genome.wustl.edu 37 5 170837547 170837548 + Frame_Shift_Ins INS - - TCTG TCGA-AB-2913-03A-01W-0732-08 TCGA-AB-2913-11A-01W-0732-08 - - - TCTG - - Verified Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq 1 dbGAP Illumina HiSeq 8efe9ea1-d3b2-4fe0-a602-d91c6fdedeb4 7543443c-c06e-445e-a2bd-aae43484175a 5 170770152 170770153 - TCTG INS NPM1 NM_002520.1 human genbank 54_36p +1 validated frame_shift_ins c.863_864 p.W288fs 1.000:1.000 NULL HMMPfam_Nucleoplasmin,superfamily_Nucleoplasmin-like core domain - no_errors NA NA NA NA NA NA NA NA NA +FLT3 0 genome.wustl.edu 37 13 28608240 28608241 + In_Frame_Ins INS - - AAACTCCCATTTGAGATCATATTCATATTCTCTGAAATCAACGTAGAAGTACTCATTATCTGAGGA TCGA-AB-2913-03A-01W-0732-08 TCGA-AB-2913-11A-01W-0732-08 - - - AAACTCCCATTTGAGATCATATTCATATTCTCTGAAATCAACGTAGAAGTACTCATTATCTGAGGA - - Verified Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq 1 dbGAP Illumina HiSeq 8efe9ea1-d3b2-4fe0-a602-d91c6fdedeb4 7543443c-c06e-445e-a2bd-aae43484175a 13 27506240 27506241 - AAACTCCCATTTGAGATCATATTCATATTCTCTGAAATCAACGTAGAAGTACTCATTATCTGAGGA INS FLT3 NM_004119.2 human genbank 54_36p -1 reviewed in_frame_ins c.1816_1815 p.605in_frame_insSSDNEYFYVDFREYEYDLKWEF 1.000:0.998 superfamily_Kinase_like HMMPfam_Pkinase_Tyr,HMMSmart_TyrKc,PatternScan_RECEPTOR_TYR_KIN_III,PatternScan_PROTEIN_KINASE_TYR,superfamily_Kinase_like,HMMPfam_ig,PatternScan_PROTEIN_KINASE_ATP,superfamily_SSF48726 - no_errors NA NA NA NA NA NA NA NA NA +LAS1L 0 genome.wustl.edu 37 X 64749615 64749615 + Missense_Mutation SNP C C T TCGA-AB-2914-03A-01W-0732-08 TCGA-AB-2914-11A-01W-0732-08 C C C T C C Verified Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq 1 dbGAP Illumina HiSeq 2ae74530-0732-4031-bb63-3dbed2979f34 3c58db02-73a6-4c04-a358-121b95f364c2 X 64666340 64666340 C T SNP LAS1L NM_031206.3 human genbank 54_36p -1 provisional missense c.658 p.D220N 0.442 NULL HMMPfam_Las1 - no_errors 185 7 3.63 147 106 41.73 68 0 0.00 +LPPR4 0 genome.wustl.edu 37 1 99772369 99772369 + Missense_Mutation SNP G G A TCGA-AB-2914-03A-01W-0732-08 TCGA-AB-2914-11A-01W-0732-08 G G G A G G Verified Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq 1 dbGAP Illumina HiSeq 2ae74530-0732-4031-bb63-3dbed2979f34 3c58db02-73a6-4c04-a358-121b95f364c2 1 99544957 99544957 G A SNP LPPR4 NM_014839.3 human genbank 54_36p +1 reviewed missense c.2095 p.G699R 1.000 NULL HMMPfam_PAP2,HMMSmart_SM00014,superfamily_Acid phosphatase/Vanadium-dependent haloperoxidase - no_errors 82 6 6.82 159 54 25.12 NA NA NA +HIST3H3 0 genome.wustl.edu 37 1 228612763 228612763 + Silent SNP C C T TCGA-AB-2914-03A-01W-0732-08 TCGA-AB-2914-11A-01W-0732-08 C C C T C C Verified Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq 1 dbGAP Illumina HiSeq 2ae74530-0732-4031-bb63-3dbed2979f34 3c58db02-73a6-4c04-a358-121b95f364c2 1 226679386 226679386 C T SNP HIST3H3 NM_003493.2 human genbank 54_36p -1 reviewed silent c.264 p.S88 0.986 HMMSmart_SM00428,HMMPfam_Histone,superfamily_Histone-fold HMMSmart_SM00428,PatternScan_HISTONE_H3_1,HMMPfam_Histone,superfamily_Histone-fold - no_errors 43 0 0.00 84 25 22.94 1 0 0.00 +SYNGAP1 0 genome.wustl.edu 37 6 33391288 33391288 + Silent SNP C C T TCGA-AB-2914-03A-01W-0732-08 TCGA-AB-2914-11A-01W-0732-08 C C C T C C Verified Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq 1 dbGAP Illumina HiSeq 2ae74530-0732-4031-bb63-3dbed2979f34 3c58db02-73a6-4c04-a358-121b95f364c2 6 33499266 33499266 C T SNP SYNGAP1 NM_006772.2 human genbank 54_36p +1 validated silent c.57 p.Y19 1.000 HMMSmart_SM00233 HMMPfam_C2,HMMSmart_SM00239,HMMSmart_SM00233,HMMPfam_RasGAP,HMMSmart_SM00323,PatternScan_RAS_GTPASE_ACTIV_1,superfamily_GTPase activation domain GAP,superfamily_C2 domain (Calcium/lipid-binding domain CaLB),superfamily_PH domain-like - no_errors 67 8 10.67 73 57 43.85 1 0 0.00 +GRB10 0 genome.wustl.edu 37 7 50674041 50674041 + Missense_Mutation SNP G G A TCGA-AB-2914-03A-01W-0732-08 TCGA-AB-2914-11A-01W-0732-08 G G G A G G Verified Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq 1 dbGAP Illumina HiSeq 2ae74530-0732-4031-bb63-3dbed2979f34 3c58db02-73a6-4c04-a358-121b95f364c2 7 50641535 50641535 G A SNP GRB10 NM_005311.2 human genbank 54_36p -1 reviewed missense c.1265 p.T422M 0.292 NULL HMMPfam_RA,HMMSmart_SM00314,HMMPfam_SH2,HMMSmart_SM00252,HMMPfam_PH,HMMSmart_SM00233,HMMPfam_BPS,superfamily_PH domain-like,superfamily_SH2 domain - no_errors 84 5 5.62 131 91 40.81 15 11 42.31 +DLC1 0 genome.wustl.edu 37 8 13357421 13357421 + Missense_Mutation SNP G G A TCGA-AB-2914-03A-01W-0732-08 TCGA-AB-2914-11A-01W-0732-08 G G G A G G Verified Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq 1 dbGAP Illumina HiSeq 2ae74530-0732-4031-bb63-3dbed2979f34 3c58db02-73a6-4c04-a358-121b95f364c2 8 13401792 13401792 G A SNP DLC1 NM_182643.3 human genbank 54_36p -1 reviewed missense c.160 p.R54C 0.992 NULL HMMPfam_RhoGAP,HMMSmart_SM00324,HMMPfam_START,HMMSmart_SM00234,superfamily_GTPase activation domain GAP,HMMPfam_SAM_2,superfamily_Bet v1-like - no_errors 100 2 1.96 144 109 42.91 NA NA NA +SORCS3 0 genome.wustl.edu 37 10 106802834 106802834 + Missense_Mutation SNP G G C TCGA-AB-2914-03A-01W-0732-08 TCGA-AB-2914-11A-01W-0732-08 G G G C G G Verified Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq 1 dbGAP Illumina HiSeq 2ae74530-0732-4031-bb63-3dbed2979f34 3c58db02-73a6-4c04-a358-121b95f364c2 10 106792824 106792824 G C SNP SORCS3 NM_014978.1 human genbank 54_36p +1 reviewed missense c.976 p.G326R 1.000 HMMSmart_VPS10,superfamily_SSF110296 HMMPfam_PKD,superfamily_PKD,HMMSmart_VPS10,superfamily_SSF110296 - no_errors 102 4 3.77 118 111 48.26 NA NA NA +OR52D1 0 genome.wustl.edu 37 11 5510840 5510840 + Nonsense_Mutation SNP G G T TCGA-AB-2914-03A-01W-0732-08 TCGA-AB-2914-11A-01W-0732-08 G G G T G G Verified Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq 1 dbGAP Illumina HiSeq 2ae74530-0732-4031-bb63-3dbed2979f34 3c58db02-73a6-4c04-a358-121b95f364c2 11 5467416 5467416 G T SNP OR52D1 NM_001005163.1 human genbank 54_36p +1 provisional nonsense c.904 p.E302* 0.986 superfamily_Family A G protein-coupled receptor-like HMMPfam_7tm_1,PatternScan_G_PROTEIN_RECEP_F1_1,superfamily_Family A G protein-coupled receptor-like - no_errors 98 1 1.01 220 65 22.57 NA NA NA +PTPRJ 0 genome.wustl.edu 37 11 48158724 48158724 + Silent SNP C C T TCGA-AB-2914-03A-01W-0732-08 TCGA-AB-2914-11A-01W-0732-08 C C C T C C Verified Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq 1 dbGAP Illumina HiSeq 2ae74530-0732-4031-bb63-3dbed2979f34 3c58db02-73a6-4c04-a358-121b95f364c2 11 48115300 48115300 C T SNP PTPRJ NM_002843.1 human genbank 54_36p +1 reviewed silent c.2043 p.D681 0.000 HMMPfam_fn3,HMMSmart_FN3,superfamily_FN_III-like HMMPfam_Y_phosphatase,HMMSmart_PTPc,HMMPfam_fn3,HMMSmart_FN3,superfamily_FN_III-like,PatternScan_TYR_PHOSPHATASE_1,superfamily_SSF52799 - no_errors 55 1 1.79 108 80 42.55 22 9 29.03 +DRD2 0 genome.wustl.edu 37 11 113287658 113287658 + Silent SNP G G A TCGA-AB-2914-03A-01W-0732-08 TCGA-AB-2914-11A-01W-0732-08 G G G A G G Verified Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq 1 dbGAP Illumina HiSeq 2ae74530-0732-4031-bb63-3dbed2979f34 3c58db02-73a6-4c04-a358-121b95f364c2 11 112792868 112792868 G A SNP DRD2 NM_000795.3 human genbank 54_36p -1 reviewed silent c.459 p.T153 0.950 HMMPfam_7tm_1,superfamily_Family A G protein-coupled receptor-like HMMPfam_7tm_1,PatternScan_G_PROTEIN_RECEP_F1_1,superfamily_Family A G protein-coupled receptor-like - no_errors 150 8 5.06 188 73 27.76 NA NA NA +CBL 0 genome.wustl.edu 37 11 119148875 119148875 + Splice_Site SNP G G C TCGA-AB-2914-03A-01W-0732-08 TCGA-AB-2914-11A-01W-0732-08 G G G C G G Verified Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq 1 dbGAP Illumina HiSeq 2ae74530-0732-4031-bb63-3dbed2979f34 3c58db02-73a6-4c04-a358-121b95f364c2 11 118654085 118654085 G C SNP CBL NM_005188.2 human genbank 54_36p +1 reviewed splice_site c.1096-1 e8-1 1.000 - - - no_errors 95 2 2.06 168 43 19.91 1 28 96.55 +ZFC3H1 0 genome.wustl.edu 37 12 72030356 72030356 + Missense_Mutation SNP T T C TCGA-AB-2914-03A-01W-0732-08 TCGA-AB-2914-11A-01W-0732-08 T T T C T T Verified Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq 1 dbGAP Illumina HiSeq 2ae74530-0732-4031-bb63-3dbed2979f34 3c58db02-73a6-4c04-a358-121b95f364c2 12 70316623 70316623 T C SNP ZFC3H1 NM_144982.4 human genbank 54_36p -1 validated missense c.2014 p.I672V 0.832 NULL HMMSmart_SM00386,HMMPfam_zf-C3H1,superfamily_Protein prenylyltransferase - no_errors 110 1 0.90 122 35 22.15 36 10 21.74 +PTPN11 0 genome.wustl.edu 37 12 112888199 112888199 + Missense_Mutation SNP C C T rs121918454 TCGA-AB-2914-03A-01W-0732-08 TCGA-AB-2914-11A-01W-0732-08 C C C T C C Verified Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq 1 dbGAP Illumina HiSeq 2ae74530-0732-4031-bb63-3dbed2979f34 3c58db02-73a6-4c04-a358-121b95f364c2 12 111372582 111372582 C T SNP PTPN11 NM_002834.3 human genbank 54_36p +1 reviewed missense c.215 p.A72V 1.000 HMMPfam_SH2,HMMSmart_SM00252,superfamily_SH2 domain HMMPfam_Y_phosphatase,HMMSmart_SM00194,HMMPfam_SH2,HMMSmart_SM00252,HMMSmart_SM00404,PatternScan_TYR_PHOSPHATASE_1,superfamily_(Phosphotyrosine protein) phosphatases II,superfamily_SH2 domain - no_errors 37 3 7.50 103 37 26.24 31 5 13.89 +ISLR 0 genome.wustl.edu 37 15 74467891 74467891 + Missense_Mutation SNP C C T TCGA-AB-2914-03A-01W-0732-08 TCGA-AB-2914-11A-01W-0732-08 C C C T C C Verified Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq 1 dbGAP Illumina HiSeq 2ae74530-0732-4031-bb63-3dbed2979f34 3c58db02-73a6-4c04-a358-121b95f364c2 15 72254944 72254944 C T SNP ISLR NM_005545.3 human genbank 54_36p +1 validated missense c.692 p.A231V 0.299 superfamily_SSF48726,superfamily_SSF52058 HMMSmart_LRRNT,HMMPfam_LRRCT,HMMSmart_LRRCT,HMMPfam_LRR_1,HMMSmart_LRR_TYP,HMMSmart_IGc2,HMMPfam_I-set,superfamily_SSF48726,superfamily_SSF52058 - no_errors 15 0 0.00 35 12 25.53 NA NA NA +KIF1C 0 genome.wustl.edu 37 17 4905792 4905792 + Nonsense_Mutation SNP C C T TCGA-AB-2914-03A-01W-0732-08 TCGA-AB-2914-11A-01W-0732-08 C C C T C C Verified Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq 1 dbGAP Illumina HiSeq 2ae74530-0732-4031-bb63-3dbed2979f34 3c58db02-73a6-4c04-a358-121b95f364c2 17 4846516 4846516 C T SNP KIF1C NM_006612.4 human genbank 54_36p +1 provisional nonsense c.463 p.R155* 0.997 HMMPfam_Kinesin,HMMSmart_KISc,superfamily_SSF52540 HMMPfam_FHA,HMMSmart_FHA,HMMPfam_Kinesin,HMMSmart_KISc,superfamily_SMAD_FHA,PatternScan_KINESIN_MOTOR_DOMAIN1,superfamily_SSF52540 - no_errors 118 9 7.09 78 59 42.75 4 1 20.00 +SERPINB4 0 genome.wustl.edu 37 18 61305098 61305098 + Missense_Mutation SNP G G A TCGA-AB-2914-03A-01W-0732-08 TCGA-AB-2914-11A-01W-0732-08 G G G A G G Verified Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq 1 dbGAP Illumina HiSeq 2ae74530-0732-4031-bb63-3dbed2979f34 3c58db02-73a6-4c04-a358-121b95f364c2 18 59456078 59456078 G A SNP SERPINB4 NM_002974.2 human genbank 54_36p -1 validated missense c.1028 p.A343V 1.000 HMMPfam_Serpin,HMMSmart_SERPIN,superfamily_Prot_inh_serpin HMMPfam_Serpin,HMMSmart_SERPIN,PatternScan_SERPIN,superfamily_Prot_inh_serpin - no_errors 84 2 2.33 139 37 20.90 NA NA NA +THOC5 0 genome.wustl.edu 37 22 29939470 29939470 + Missense_Mutation SNP A A C TCGA-AB-2914-03A-01W-0732-08 TCGA-AB-2914-11A-01W-0732-08 A A A C A A Verified Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq 1 dbGAP Illumina HiSeq 2ae74530-0732-4031-bb63-3dbed2979f34 3c58db02-73a6-4c04-a358-121b95f364c2 22 28269470 28269470 A C SNP THOC5 NM_001002877.1 human genbank 54_36p -1 validated missense c.302 p.L101R 1.000 HMMPfam_FimP HMMPfam_FimP - no_errors 231 19 7.57 200 150 42.74 20 20 50.00 +STRN 0 genome.wustl.edu 37 2 37105143 37105145 + In_Frame_Del DEL AGA AGA - TCGA-AB-2914-03A-01W-0732-08 TCGA-AB-2914-11A-01W-0732-08 AGA AGA AGA - AGA AGA Verified Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq 1 dbGAP Illumina HiSeq 2ae74530-0732-4031-bb63-3dbed2979f34 3c58db02-73a6-4c04-a358-121b95f364c2 2 36958647 36958649 AGA - DEL STRN NM_003162.2 human genbank 54_36p -1 validated in_frame_del c.1214_1212 p.S405in_frame_del 0.997:1.000:0.996 NULL HMMSmart_SM00320,superfamily_WD40 repeat-like,HMMPfam_Striatin,PatternScan_WD_REPEATS_1,HMMPfam_WD40 - no_errors 0 0 0.00 0 0 0.00 0 0 0.00 +CPXM2 0 genome.wustl.edu 37 10 125526584 125526584 + Frame_Shift_Del DEL A A - TCGA-AB-2914-03A-01W-0732-08 TCGA-AB-2914-11A-01W-0732-08 A A A - A A Verified Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq 1 dbGAP Illumina HiSeq 2ae74530-0732-4031-bb63-3dbed2979f34 3c58db02-73a6-4c04-a358-121b95f364c2 10 125516574 125516574 A - DEL CPXM2 NM_198148.2 human genbank 54_36p -1 validated frame_shift_del c.1384 p.L462fs 0.596 HMMPfam_Peptidase_M14,HMMSmart_SM00631,superfamily_Zn-dependent exopeptidases HMMPfam_F5_F8_type_C,HMMSmart_SM00231,PatternScan_FA58C_1,PatternScan_FA58C_2,HMMPfam_Peptidase_M14,HMMSmart_SM00631,PatternScan_CARBOXYPEPT_ZN_1,superfamily_Carboxypeptidase regulatory domain,superfamily_Galactose-binding domain-like,superfamily_Zn-dependent exopeptidases - no_errors 0 0 0.00 0 0 0.00 0 0 0.00 +KANSL1 0 genome.wustl.edu 37 17 44248614 44248615 + Frame_Shift_Ins INS - - G TCGA-AB-2914-03A-01W-0732-08 TCGA-AB-2914-11A-01W-0732-08 - - - G - - Verified Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq 1 dbGAP Illumina HiSeq 2ae74530-0732-4031-bb63-3dbed2979f34 3c58db02-73a6-4c04-a358-121b95f364c2 17 41604391 41604392 - G INS KIAA1267 NM_015443.2 human genbank 54_36p -1 validated frame_shift_ins c.896_895 p.R299fs 1.000:1.000 NULL NULL - no_errors 113 0 0.00 176 47 21.08 77 11 12.50 +WNK3 0 genome.wustl.edu 37 X 54334368 54334368 + Missense_Mutation SNP C C T TCGA-AB-2915-03A-01W-0745-08 TCGA-AB-2915-11A-01W-0745-08 C C C T C C Verified Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq 1 dbGAP Illumina HiSeq 7f3f32b0-89db-4deb-84f1-5c0013f33668 733a0414-1086-4395-9859-9f85aad1863f X 54351093 54351093 C T SNP WNK3 NM_020922.2 human genbank 54_36p -1 validated missense c.1076 p.R359Q 1.000 HMMSmart_S_TKc,superfamily_Kinase_like,HMMPfam_Pkinase HMMSmart_S_TKc,PatternScan_PROTEIN_KINASE_ST,superfamily_Kinase_like,HMMPfam_Pkinase - no_errors 66 1 1.47 144 89 37.71 NA NA NA +TCEAL1 0 genome.wustl.edu 37 X 102884907 102884907 + Silent SNP G G A TCGA-AB-2915-03A-01W-0745-08 TCGA-AB-2915-11A-01W-0745-08 G G G A G G Verified Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq 1 dbGAP Illumina HiSeq 7f3f32b0-89db-4deb-84f1-5c0013f33668 733a0414-1086-4395-9859-9f85aad1863f X 102771563 102771563 G A SNP TCEAL1 NM_001006639.1 human genbank 54_36p +1 reviewed silent c.63 p.E21 0.807 HMMPfam_TFA HMMPfam_TFA - no_errors 30 0 0.00 68 46 40.00 27 0 0.00 +ARHGEF10L 0 genome.wustl.edu 37 1 17948359 17948359 + Missense_Mutation SNP G G A TCGA-AB-2915-03A-01W-0745-08 TCGA-AB-2915-11A-01W-0745-08 G G G A G G Verified Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq 1 dbGAP Illumina HiSeq 7f3f32b0-89db-4deb-84f1-5c0013f33668 733a0414-1086-4395-9859-9f85aad1863f 1 17820946 17820946 G A SNP ARHGEF10L NM_018125.2 human genbank 54_36p +1 validated missense c.943 p.V315M 1.000 superfamily_DBL homology domain (DH-domain) HMMPfam_RhoGEF,HMMSmart_SM00325,superfamily_DBL homology domain (DH-domain),superfamily_WD40 repeat-like,superfamily_PH domain-like - no_errors 36 0 0.00 91 63 40.38 11 8 42.11 +FLG 0 genome.wustl.edu 37 1 152278709 152278709 + Missense_Mutation SNP T T A TCGA-AB-2915-03A-01W-0745-08 TCGA-AB-2915-11A-01W-0745-08 T T T A T T Verified Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq 1 dbGAP Illumina HiSeq 7f3f32b0-89db-4deb-84f1-5c0013f33668 733a0414-1086-4395-9859-9f85aad1863f 1 150545333 150545333 T A SNP FLG NM_002016.1 human genbank 54_36p -1 provisional missense c.8653 p.R2885W 0.000 HMMPfam_Filaggrin PatternScan_S100_CABP,HMMPfam_Filaggrin,HMMPfam_S_100,PatternScan_EF_HAND_1,superfamily_SSF47473 - no_errors 15 0 0.00 85 33 27.50 NA NA NA +ZNF648 0 genome.wustl.edu 37 1 182027086 182027086 + Silent SNP A A C TCGA-AB-2915-03A-01W-0745-08 TCGA-AB-2915-11A-01W-0745-08 A A A C A A Verified Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq 1 dbGAP Illumina HiSeq 7f3f32b0-89db-4deb-84f1-5c0013f33668 733a0414-1086-4395-9859-9f85aad1863f 1 180293709 180293709 A C SNP ZNF648 NM_001009992.1 human genbank 54_36p -1 provisional silent c.60 p.T20 0.151 NULL HMMPfam_zf-C2H2,PatternScan_ZINC_FINGER_C2H2_1,HMMSmart_ZnF_C2H2,superfamily_SSF57667 - no_errors 51 1 1.92 93 121 56.28 0 0 0.00 +WDR35 0 genome.wustl.edu 37 2 20153619 20153619 + Missense_Mutation SNP C C T TCGA-AB-2915-03A-01W-0745-08 TCGA-AB-2915-11A-01W-0745-08 C C C T C C Verified Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq 1 dbGAP Illumina HiSeq 7f3f32b0-89db-4deb-84f1-5c0013f33668 733a0414-1086-4395-9859-9f85aad1863f 2 20017100 20017100 C T SNP WDR35 NM_001006657.1 human genbank 54_36p -1 reviewed missense c.1409 p.R470Q 0.996 superfamily_WD40 repeat-like HMMSmart_SM00320,superfamily_WD40 repeat-like,HMMPfam_WD40 - no_errors 71 2 2.74 179 151 45.62 13 0 0.00 +MAP2 0 genome.wustl.edu 37 2 210561004 210561004 + Silent SNP C C T TCGA-AB-2915-03A-01W-0745-08 TCGA-AB-2915-11A-01W-0745-08 C C C T C C Verified Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq 1 dbGAP Illumina HiSeq 7f3f32b0-89db-4deb-84f1-5c0013f33668 733a0414-1086-4395-9859-9f85aad1863f 2 210269249 210269249 C T SNP MAP2 NM_002374.1 human genbank 54_36p +1 reviewed silent c.4110 p.D1370 0.697 HMMPfam_MAP2_projctn HMMPfam_Tubulin-binding,PatternScan_TAU_MAP,HMMPfam_MAP2_projctn,HMMPfam_RII_binding_1 - no_errors 73 0 0.00 109 86 43.88 NA NA NA +C3orf67 0 genome.wustl.edu 37 3 58792122 58792122 + Missense_Mutation SNP G G A TCGA-AB-2915-03A-01W-0745-08 TCGA-AB-2915-11A-01W-0745-08 G G G A G G Verified Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq 1 dbGAP Illumina HiSeq 7f3f32b0-89db-4deb-84f1-5c0013f33668 733a0414-1086-4395-9859-9f85aad1863f 3 58767162 58767162 G A SNP C3orf67 NM_198463.2 human genbank 54_36p -1 predicted missense c.1483 p.R495W 0.973 NULL NULL - no_errors 49 3 5.66 183 123 39.81 NA NA NA +NME9 0 genome.wustl.edu 37 3 138037001 138037001 + Silent SNP G G A TCGA-AB-2915-03A-01W-0745-08 TCGA-AB-2915-11A-01W-0745-08 G G G A G G Verified Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq 1 dbGAP Illumina HiSeq 7f3f32b0-89db-4deb-84f1-5c0013f33668 733a0414-1086-4395-9859-9f85aad1863f 3 139519691 139519691 G A SNP TXNDC6 NM_178130.2 human genbank 54_36p -1 provisional silent c.190 p.L64 1.000 superfamily_Thiordxn-like_fd HMMPfam_NDK,HMMSmart_NDK,superfamily_NDK,superfamily_Thiordxn-like_fd,PatternScan_THIOREDOXIN_1 - no_errors 46 4 8.00 98 88 46.81 NA NA NA +LOC152845 0 genome.wustl.edu 37 4 85165371 85165371 + RNA SNP G G A TCGA-AB-2915-03A-01W-0745-08 TCGA-AB-2915-11A-01W-0745-08 G G G A G G Verified Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq 1 dbGAP Illumina HiSeq 7f3f32b0-89db-4deb-84f1-5c0013f33668 733a0414-1086-4395-9859-9f85aad1863f 4 85384395 85384395 G A SNP LOC152845 XR_038721.1 human genbank 54_36p +1 model rna NULL NULL 0.974 - - - pseudogene 64 2 2.99 139 85 37.78 3 0 0.00 +LOC152845 0 genome.wustl.edu 37 4 85165890 85165890 + RNA SNP C C T TCGA-AB-2915-03A-01W-0745-08 TCGA-AB-2915-11A-01W-0745-08 C C C T C C Verified Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq 1 dbGAP Illumina HiSeq 7f3f32b0-89db-4deb-84f1-5c0013f33668 733a0414-1086-4395-9859-9f85aad1863f 4 85384914 85384914 C T SNP LOC152845 XR_038721.1 human genbank 54_36p +1 model rna NULL NULL 1.000 - - - pseudogene 91 0 0.00 173 132 43.28 NA NA NA +GSTCD 0 genome.wustl.edu 37 4 106638785 106638785 + Silent SNP G G A TCGA-AB-2915-03A-01W-0745-08 TCGA-AB-2915-11A-01W-0745-08 G G G A G G Verified Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq 1 dbGAP Illumina HiSeq 7f3f32b0-89db-4deb-84f1-5c0013f33668 733a0414-1086-4395-9859-9f85aad1863f 4 106858234 106858234 G A SNP GSTCD NM_001031720.2 human genbank 54_36p +1 validated silent c.15 p.K5 0.511 NULL superfamily_Glutathione S-transferase (GST) C-terminal domain,superfamily_S-adenosyl-L-methionine-dependent methyltransferases - no_errors 75 7 8.54 115 64 35.56 6 0 0.00 +NAA15 0 genome.wustl.edu 37 4 140270697 140270697 + Nonsense_Mutation SNP G G A TCGA-AB-2915-03A-01W-0745-08 TCGA-AB-2915-11A-01W-0745-08 G G G A G G Verified Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq 1 dbGAP Illumina HiSeq 7f3f32b0-89db-4deb-84f1-5c0013f33668 733a0414-1086-4395-9859-9f85aad1863f 4 140490147 140490147 G A SNP NARG1 NM_057175.3 human genbank 54_36p +1 validated nonsense c.773 p.W258* 1.000 superfamily_TPR-like HMMPfam_TPR_2,HMMSmart_SM00028,superfamily_TPR-like - no_errors 64 7 9.86 159 111 40.81 24 5 17.24 +LOC391811 0 genome.wustl.edu 37 5 92603860 92603860 + RNA SNP G G T TCGA-AB-2915-03A-01W-0745-08 TCGA-AB-2915-11A-01W-0745-08 G G G T G G Verified Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq 1 dbGAP Illumina HiSeq 7f3f32b0-89db-4deb-84f1-5c0013f33668 733a0414-1086-4395-9859-9f85aad1863f 5 92629616 92629616 G T SNP LOC391811 XR_016127.2 human genbank 54_36p +1 model rna NULL NULL 0.999 - - - pseudogene 37 0 0.00 173 120 40.27 15 0 0.00 +NPM1 0 genome.wustl.edu 37 5 170834720 170834720 + Missense_Mutation SNP A A G TCGA-AB-2915-03A-01W-0745-08 TCGA-AB-2915-11A-01W-0745-08 A A A G A A Verified Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq 1 dbGAP Illumina HiSeq 7f3f32b0-89db-4deb-84f1-5c0013f33668 733a0414-1086-4395-9859-9f85aad1863f 5 170767325 170767325 A G SNP NPM1 NM_002520.1 human genbank 54_36p +1 validated missense c.788 p.K263R 1.000 NULL HMMPfam_Nucleoplasmin,superfamily_Nucleoplasmin-like core domain - no_errors 60 0 0.00 40 44 52.38 99 85 46.20 +EPHA7 0 genome.wustl.edu 37 6 93967201 93967201 + Silent SNP T T C TCGA-AB-2915-03A-01W-0745-08 TCGA-AB-2915-11A-01W-0745-08 T T T C T T Verified Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq 1 dbGAP Illumina HiSeq 7f3f32b0-89db-4deb-84f1-5c0013f33668 733a0414-1086-4395-9859-9f85aad1863f 6 94023922 94023922 T C SNP EPHA7 NM_004440.3 human genbank 54_36p -1 reviewed silent c.2151 p.G717 1.000 HMMPfam_Pkinase_Tyr,HMMSmart_SM00219,HMMSmart_SM00220,superfamily_Protein kinase-like (PK-like) HMMPfam_Ephrin_lbd,HMMSmart_SM00615,HMMPfam_Pkinase_Tyr,HMMSmart_SM00219,PatternScan_RECEPTOR_TYR_KIN_V_1,PatternScan_RECEPTOR_TYR_KIN_V_2,HMMPfam_SAM_1,HMMSmart_SM00454,HMMSmart_SM00220,HMMPfam_fn3,HMMSmart_SM00060,PatternScan_PROTEIN_KINASE_TYR,superfamily_Fibronectin type III,superfamily_Galactose-binding domain-like,superfamily_Growth factor receptor domain,superfamily_SAM/Pointed domain,superfamily_Protein kinase-like (PK-like),PatternScan_EGF_2,PatternScan_PROTEIN_KINASE_ATP - no_errors 56 1 1.72 66 48 42.11 NA NA NA +NR2E1 0 genome.wustl.edu 37 6 108501563 108501563 + Missense_Mutation SNP G G T TCGA-AB-2915-03A-01W-0745-08 TCGA-AB-2915-11A-01W-0745-08 G G G T G G Verified Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq 1 dbGAP Illumina HiSeq 7f3f32b0-89db-4deb-84f1-5c0013f33668 733a0414-1086-4395-9859-9f85aad1863f 6 108608256 108608256 G T SNP NR2E1 NM_003269.3 human genbank 54_36p +1 validated missense c.679 p.V227F 1.000 HMMPfam_Hormone_recep,HMMSmart_SM00430,superfamily_Nuclear receptor ligand-binding domain HMMPfam_Hormone_recep,HMMSmart_SM00430,HMMPfam_zf-C4,HMMSmart_SM00399,PatternScan_NUCLEAR_REC_DBD_1,superfamily_Nuclear receptor ligand-binding domain,superfamily_Glucocorticoid receptor-like (DNA-binding domain) - no_errors 56 0 0.00 72 46 38.98 NA NA NA +C9orf91 0 genome.wustl.edu 37 9 117396074 117396074 + Silent SNP G G A TCGA-AB-2915-03A-01W-0745-08 TCGA-AB-2915-11A-01W-0745-08 G G G A G G Verified Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq 1 dbGAP Illumina HiSeq 7f3f32b0-89db-4deb-84f1-5c0013f33668 733a0414-1086-4395-9859-9f85aad1863f 9 116435895 116435895 G A SNP C9orf91 NM_153045.3 human genbank 54_36p +1 validated silent c.501 p.L167 0.985 NULL NULL - no_errors 33 0 0.00 59 55 48.25 12 12 50.00 +AIFM2 0 genome.wustl.edu 37 10 71883242 71883242 + Silent SNP C C A TCGA-AB-2915-03A-01W-0745-08 TCGA-AB-2915-11A-01W-0745-08 C C C A C C Verified Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq 1 dbGAP Illumina HiSeq 7f3f32b0-89db-4deb-84f1-5c0013f33668 733a0414-1086-4395-9859-9f85aad1863f 10 71553248 71553248 C A SNP AIFM2 NM_032797.4 human genbank 54_36p -1 reviewed silent c.213 p.V71 0.972 HMMPfam_Pyr_redox_2,superfamily_FAD/NAD(P)-binding domain HMMPfam_Pyr_redox_2,superfamily_FAD/NAD(P)-binding domain - no_errors 37 1 2.63 77 58 42.96 7 3 30.00 +GALNTL4 0 genome.wustl.edu 37 11 11314707 11314707 + Missense_Mutation SNP C C T TCGA-AB-2915-03A-01W-0745-08 TCGA-AB-2915-11A-01W-0745-08 C C C T C C Verified Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq 1 dbGAP Illumina HiSeq 7f3f32b0-89db-4deb-84f1-5c0013f33668 733a0414-1086-4395-9859-9f85aad1863f 11 11271283 11271283 C T SNP GALNTL4 NM_198516.2 human genbank 54_36p -1 validated missense c.1546 p.V516M 1.000 HMMPfam_Ricin_B_lectin,HMMSmart_SM00458,superfamily_Ricin B-like lectins HMMPfam_Ricin_B_lectin,HMMSmart_SM00458,HMMPfam_Glycos_transf_2,superfamily_Ricin B-like lectins,superfamily_Nucleotide-diphospho-sugar transferases - no_errors 36 0 0.00 119 92 43.40 2 0 0.00 +LOC645173 0 genome.wustl.edu 37 17 51834920 51834920 + RNA SNP G G A TCGA-AB-2915-03A-01W-0745-08 TCGA-AB-2915-11A-01W-0745-08 G G G A G G Verified Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq 1 dbGAP Illumina HiSeq 7f3f32b0-89db-4deb-84f1-5c0013f33668 733a0414-1086-4395-9859-9f85aad1863f 17 49189919 49189919 G A SNP LOC645173 XR_017590.2 human genbank 54_36p -1 model rna NULL NULL 1.000 - - - pseudogene 15 0 0.00 7 8 50.00 0 0 0.00 +SERPINB12 0 genome.wustl.edu 37 18 61234228 61234228 + Missense_Mutation SNP G G A TCGA-AB-2915-03A-01W-0745-08 TCGA-AB-2915-11A-01W-0745-08 G G G A G G Verified Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq 1 dbGAP Illumina HiSeq 7f3f32b0-89db-4deb-84f1-5c0013f33668 733a0414-1086-4395-9859-9f85aad1863f 18 59385208 59385208 G A SNP SERPINB12 NM_080474.1 human genbank 54_36p +1 provisional missense c.1202 p.R401K 0.998 HMMPfam_Serpin,HMMSmart_SERPIN,superfamily_Prot_inh_serpin HMMPfam_Serpin,HMMSmart_SERPIN,PatternScan_SERPIN,superfamily_Prot_inh_serpin - no_errors 156 3 1.88 223 175 43.53 NA NA NA +DOT1L 0 genome.wustl.edu 37 19 2216684 2216684 + Silent SNP G G C TCGA-AB-2915-03A-01W-0745-08 TCGA-AB-2915-11A-01W-0745-08 G G G C G G Verified Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq 1 dbGAP Illumina HiSeq 7f3f32b0-89db-4deb-84f1-5c0013f33668 733a0414-1086-4395-9859-9f85aad1863f 19 2167684 2167684 G C SNP DOT1L NM_032482.2 human genbank 54_36p +1 validated silent c.2328 p.P776 0.759 NULL HMMPfam_DOT1,HMMPfam_AT_hook,HMMSmart_AT_hook,superfamily_SSF53335 - no_errors 5 0 0.00 3 7 70.00 30 26 46.43 +TLE6 0 genome.wustl.edu 37 19 2989633 2989633 + Missense_Mutation SNP C C G TCGA-AB-2915-03A-01W-0745-08 TCGA-AB-2915-11A-01W-0745-08 C C C G C C Verified Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq 1 dbGAP Illumina HiSeq 7f3f32b0-89db-4deb-84f1-5c0013f33668 733a0414-1086-4395-9859-9f85aad1863f 19 2940633 2940633 C G SNP TLE6 NM_024760.1 human genbank 54_36p +1 validated missense c.725 p.A242G 0.999 superfamily_WD40_like HMMSmart_WD40,superfamily_WD40_like,PatternScan_WD_REPEATS_1 - no_errors 24 0 0.00 86 48 34.78 NA NA NA +MUC16 0 genome.wustl.edu 37 19 9060044 9060044 + Silent SNP G G A TCGA-AB-2915-03A-01W-0745-08 TCGA-AB-2915-11A-01W-0745-08 G G G A G G Verified Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq 1 dbGAP Illumina HiSeq 7f3f32b0-89db-4deb-84f1-5c0013f33668 733a0414-1086-4395-9859-9f85aad1863f 19 8921044 8921044 G A SNP MUC16 NM_024690.2 human genbank 54_36p -1 validated silent c.27402 p.S9134 0.000 NULL HMMPfam_SEA,HMMSmart_SM00200,PatternScan_ATPASE_ALPHA_BETA,superfamily_SEA domain - no_errors 137 4 2.84 133 100 42.74 NA NA NA +VWA3B 0 genome.wustl.edu 37 2 98810951 98810952 + Frame_Shift_Ins INS - - A TCGA-AB-2915-03A-01W-0745-08 TCGA-AB-2915-11A-01W-0745-08 - - - A - - Verified Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq 1 dbGAP Illumina HiSeq 7f3f32b0-89db-4deb-84f1-5c0013f33668 733a0414-1086-4395-9859-9f85aad1863f 2 98177383 98177384 - A INS VWA3B NM_144992.4 human genbank 54_36p +1 provisional frame_shift_ins c.1733_1734 p.I580fs 0.454:0.255 HMMPfam_VWA,HMMSmart_SM00327,superfamily_vWA-like HMMPfam_VWA,HMMSmart_SM00327,superfamily_vWA-like - no_errors 68 0 0.00 168 90 34.88 0 0 0.00 +SSSCA1 0 genome.wustl.edu 37 11 65339073 65339075 + In_Frame_Del DEL CCT CCT - TCGA-AB-2915-03A-01W-0745-08 TCGA-AB-2915-11A-01W-0745-08 CCT CCT CCT - CCT CCT Verified Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq 1 dbGAP Illumina HiSeq 7f3f32b0-89db-4deb-84f1-5c0013f33668 733a0414-1086-4395-9859-9f85aad1863f 11 65095649 65095651 CCT - DEL SSSCA1 NM_006396.1 human genbank 54_36p +1 provisional in_frame_del c.468_470 p.L158in_frame_del 0.997:1.000:1.000 NULL HMMPfam_Auto_anti-p27 - no_errors 0 1 3.70 0 12 27.27 0 10 23.81 +FLT3 0 genome.wustl.edu 37 13 28608260 28608261 + In_Frame_Ins INS - - ATTCATATTCTCTGAAATCAACGTAGAAGTACTCATTATCTGAGGAGCCAG TCGA-AB-2915-03A-01W-0745-08 TCGA-AB-2915-11A-01W-0745-08 - - - ATTCATATTCTCTGAAATCAACGTAGAAGTACTCATTATCTGAGGAGCCAG - - Verified Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq 1 dbGAP Illumina HiSeq 7f3f32b0-89db-4deb-84f1-5c0013f33668 733a0414-1086-4395-9859-9f85aad1863f 13 27506260 27506261 - ATTCATATTCTCTGAAATCAACGTAGAAGTACTCATTATCTGAGGAGCCAG INS FLT3 NM_004119.2 human genbank 54_36p -1 reviewed in_frame_ins c.1796_1795 p.599in_frame_insSGSSDNEYFYVDFREYE 1.000:0.999 superfamily_Kinase_like HMMPfam_Pkinase_Tyr,HMMSmart_TyrKc,PatternScan_RECEPTOR_TYR_KIN_III,PatternScan_PROTEIN_KINASE_TYR,superfamily_Kinase_like,HMMPfam_ig,PatternScan_PROTEIN_KINASE_ATP,superfamily_SSF48726 - no_errors NA NA NA NA NA NA NA NA NA +CD1B 0 genome.wustl.edu 37 1 158300845 158300845 + Silent SNP C C T TCGA-AB-2916-03A-01W-0732-08 TCGA-AB-2916-11A-01W-0732-08 C C C T C C Verified Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq 1 dbGAP Illumina HiSeq 40754d09-f57c-442e-bb13-35f5793c381a 4f994b34-a13a-4755-b0d4-2847b1c41e25 1 156567469 156567469 C T SNP CD1B NM_001764.2 human genbank 54_36p -1 reviewed silent c.69 p.Q23 0.003 NULL HMMPfam_MHC_I,HMMPfam_C1-set,HMMSmart_SM00407,superfamily_MHC antigen-recognition domain,superfamily_Immunoglobulin - no_errors 296 7 2.31 148 83 35.47 0 0 0.00 +OR2T10 0 genome.wustl.edu 37 1 248756299 248756299 + Nonsense_Mutation SNP G G T TCGA-AB-2916-03A-01W-0732-08 TCGA-AB-2916-11A-01W-0732-08 G G G T G G Verified Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq 1 dbGAP Illumina HiSeq 40754d09-f57c-442e-bb13-35f5793c381a 4f994b34-a13a-4755-b0d4-2847b1c41e25 1 246822922 246822922 G T SNP OR2T10 NM_001004693.1 human genbank 54_36p -1 provisional nonsense c.771 p.Y257* 0.000 HMMPfam_7tm_1,superfamily_Family A G protein-coupled receptor-like HMMPfam_7tm_1,PatternScan_G_PROTEIN_RECEP_F1_1,superfamily_Family A G protein-coupled receptor-like - no_errors 107 3 2.73 153 95 38.00 NA NA NA +DNMT3A 0 genome.wustl.edu 37 2 25457243 25457243 + Missense_Mutation SNP G G A TCGA-AB-2916-03A-01W-0732-08 TCGA-AB-2916-11A-01W-0732-08 G G G A G G Verified Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq 1 dbGAP Illumina HiSeq 40754d09-f57c-442e-bb13-35f5793c381a 4f994b34-a13a-4755-b0d4-2847b1c41e25 2 25310747 25310747 G A SNP DNMT3A NM_022552.3 human genbank 54_36p -1 reviewed missense c.2644 p.R882C 1.000 superfamily_S-adenosyl-L-methionine-dependent methyltransferases HMMPfam_PWWP,HMMSmart_SM00293,HMMPfam_DNA_methylase,superfamily_FYVE/PHD zinc finger,PatternScan_C5_MTASE_1,superfamily_S-adenosyl-L-methionine-dependent methyltransferases,superfamily_Tudor/PWWP/MBT - no_errors 93 1 1.06 64 28 30.11 16 9 34.62 +STK39 0 genome.wustl.edu 37 2 168997252 168997252 + Silent SNP C C T TCGA-AB-2916-03A-01W-0732-08 TCGA-AB-2916-11A-01W-0732-08 C C C T C C Verified Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq 1 dbGAP Illumina HiSeq 40754d09-f57c-442e-bb13-35f5793c381a 4f994b34-a13a-4755-b0d4-2847b1c41e25 2 168705498 168705498 C T SNP STK39 NM_013233.2 human genbank 54_36p -1 reviewed silent c.645 p.A215 0.986 HMMSmart_SM00219,HMMSmart_SM00220,superfamily_Protein kinase-like (PK-like),HMMPfam_Pkinase HMMSmart_SM00219,HMMSmart_SM00220,superfamily_Protein kinase-like (PK-like),PatternScan_PROTEIN_KINASE_ATP,HMMPfam_Pkinase - no_errors 108 0 0.00 138 77 35.81 15 20 57.14 +BTD 0 genome.wustl.edu 37 3 15686426 15686426 + Missense_Mutation SNP G G A TCGA-AB-2916-03A-01W-0732-08 TCGA-AB-2916-11A-01W-0732-08 G G G A G G Verified Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq 1 dbGAP Illumina HiSeq 40754d09-f57c-442e-bb13-35f5793c381a 4f994b34-a13a-4755-b0d4-2847b1c41e25 3 15661430 15661430 G A SNP BTD NM_000060.2 human genbank 54_36p +1 reviewed missense c.1063 p.D355N 0.003 NULL HMMPfam_CN_hydrolase,superfamily_Carbon-nitrogen hydrolase - no_errors 97 2 2.02 105 61 36.31 15 5 25.00 +STC2 0 genome.wustl.edu 37 5 172745042 172745042 + Silent SNP G G A TCGA-AB-2916-03A-01W-0732-08 TCGA-AB-2916-11A-01W-0732-08 G G G A G G Verified Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq 1 dbGAP Illumina HiSeq 40754d09-f57c-442e-bb13-35f5793c381a 4f994b34-a13a-4755-b0d4-2847b1c41e25 5 172677648 172677648 G A SNP STC2 NM_003714.2 human genbank 54_36p -1 reviewed silent c.717 p.H239 0.003 HMMPfam_Stanniocalcin HMMPfam_Stanniocalcin - no_errors 38 1 2.56 24 19 43.18 NA NA NA +MYB 0 genome.wustl.edu 37 6 135510959 135510959 + Missense_Mutation SNP T T C TCGA-AB-2916-03A-01W-0732-08 TCGA-AB-2916-11A-01W-0732-08 T T T C T T Verified Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq 1 dbGAP Illumina HiSeq 40754d09-f57c-442e-bb13-35f5793c381a 4f994b34-a13a-4755-b0d4-2847b1c41e25 6 135552652 135552652 T C SNP MYB NM_005375.1 human genbank 54_36p +1 validated missense c.244 p.W82R 1.000 HMMSmart_SM00717,superfamily_Homeodomain-like,HMMPfam_Myb_DNA-binding HMMSmart_SM00717,superfamily_Homeodomain-like,HMMPfam_Wos2,HMMPfam_Myb_DNA-binding,HMMPfam_Cmyb_C - no_errors 94 0 0.00 119 14 10.45 52 13 20.00 +LOC100131447 0 genome.wustl.edu 37 7 48887396 48887396 + RNA SNP G G T TCGA-AB-2916-03A-01W-0732-08 TCGA-AB-2916-11A-01W-0732-08 G G G T G G Verified Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq 1 dbGAP Illumina HiSeq 40754d09-f57c-442e-bb13-35f5793c381a 4f994b34-a13a-4755-b0d4-2847b1c41e25 7 48857942 48857942 G T SNP LOC100131447 XR_036885.1 human genbank 54_36p -1 model rna NULL NULL 1.000 - - - pseudogene 72 1 1.37 141 39 21.55 NA NA NA +CSMD1 0 genome.wustl.edu 37 8 2966162 2966162 + Missense_Mutation SNP G G T TCGA-AB-2916-03A-01W-0732-08 TCGA-AB-2916-11A-01W-0732-08 G G G T G G Verified Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq 1 dbGAP Illumina HiSeq 40754d09-f57c-442e-bb13-35f5793c381a 4f994b34-a13a-4755-b0d4-2847b1c41e25 8 2953569 2953569 G T SNP CSMD1 NM_033225.4 human genbank 54_36p -1 validated missense c.6721 p.L2241I 1.000 NULL HMMPfam_Sushi,HMMSmart_SM00032,HMMPfam_CUB,HMMSmart_SM00042,superfamily_Spermadhesin CUB domain,superfamily_Complement control module/SCR domain - pseudogene:no_stop_codon:bad_bp_length_for_coding_region 115 2 1.71 113 86 42.79 NA NA NA +ARL3 0 genome.wustl.edu 37 10 104449677 104449677 + Missense_Mutation SNP G G T TCGA-AB-2916-03A-01W-0732-08 TCGA-AB-2916-11A-01W-0732-08 G G G T G G Verified Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq 1 dbGAP Illumina HiSeq 40754d09-f57c-442e-bb13-35f5793c381a 4f994b34-a13a-4755-b0d4-2847b1c41e25 10 104439667 104439667 G T SNP ARL3 NM_004311.2 human genbank 54_36p -1 reviewed missense c.288 p.D96E 1.000 HMMSmart_ARF,HMMPfam_Arf,superfamily_SSF52540 HMMSmart_ARF,PatternScan_ARF,HMMPfam_Arf,superfamily_SSF52540 - no_errors 103 1 0.96 103 59 36.20 9 11 55.00 +TTC40 0 genome.wustl.edu 37 10 134671121 134671121 + Silent SNP G G A TCGA-AB-2916-03A-01W-0732-08 TCGA-AB-2916-11A-01W-0732-08 G G G A G G Verified Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq 1 dbGAP Illumina HiSeq 40754d09-f57c-442e-bb13-35f5793c381a 4f994b34-a13a-4755-b0d4-2847b1c41e25 10 134521111 134521111 G A SNP C10orf92 ENST00000263170 human ensembl 54_36p -1 known silent c.30 p.S10 0.001 NULL NULL - no_errors 34 1 2.78 8 15 65.22 NA NA NA +KCNA4 0 genome.wustl.edu 37 11 30033061 30033061 + Missense_Mutation SNP G G A TCGA-AB-2916-03A-01W-0732-08 TCGA-AB-2916-11A-01W-0732-08 G G G A G G Verified Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq 1 dbGAP Illumina HiSeq 40754d09-f57c-442e-bb13-35f5793c381a 4f994b34-a13a-4755-b0d4-2847b1c41e25 11 29989637 29989637 G A SNP KCNA4 NM_002233.2 human genbank 54_36p -1 reviewed missense c.1165 p.R389C 1.000 HMMPfam_Ion_trans,superfamily_Voltage-gated potassium channels HMMSmart_SM00225,HMMPfam_K_tetra,HMMPfam_Ion_trans,superfamily_POZ domain,HMMPfam_K_channel_TID,superfamily_Voltage-gated potassium channels - no_errors 479 19 3.82 154 160 50.63 NA NA NA +TRIP4 0 genome.wustl.edu 37 15 64686316 64686316 + Splice_Site SNP T T C TCGA-AB-2916-03A-01W-0732-08 TCGA-AB-2916-11A-01W-0732-08 T T T C T T Verified Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq 1 dbGAP Illumina HiSeq 40754d09-f57c-442e-bb13-35f5793c381a 4f994b34-a13a-4755-b0d4-2847b1c41e25 15 62473369 62473369 T C SNP TRIP4 NM_016213.3 human genbank 54_36p +1 validated splice_site c.271+2 e2+2 1.000 - - - no_errors 128 2 1.53 121 69 35.94 0 7 100.00 +PHACTR1 0 genome.wustl.edu 37 6 13206134 13206135 + Frame_Shift_Ins INS - - G TCGA-AB-2916-03A-01W-0732-08 TCGA-AB-2916-11A-01W-0732-08 - - - G - - Verified Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq 1 dbGAP Illumina HiSeq 40754d09-f57c-442e-bb13-35f5793c381a 4f994b34-a13a-4755-b0d4-2847b1c41e25 6 13314113 13314114 - G INS PHACTR1 NM_030948.1 human genbank 54_36p +1 validated frame_shift_ins c.752_753 p.P254fs 0.638:0.521 NULL HMMPfam_RPEL,HMMSmart_SM00707 - no_errors 12 0 0.00 45 4 8.16 2 0 0.00 +MED12 0 genome.wustl.edu 37 X 70347217 70347217 + Missense_Mutation SNP C C T rs80338758 TCGA-AB-2917-03A-01W-0732-08 TCGA-AB-2917-11A-01W-0732-08 C C C T C C Verified Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq 1 dbGAP Illumina HiSeq 77b0ecc5-d93d-44bf-b2da-fda304c4810b 52fc3d72-1205-44db-8c5b-1e8750a98313 X 70263942 70263942 C T SNP MED12 NM_005120.2 human genbank 54_36p +1 validated missense c.2881 p.R961W 1.000 NULL HMMPfam_Med12 - no_errors 465 28 5.61 199 141 41.47 2 40 95.24 +DIAPH2 0 genome.wustl.edu 37 X 96684726 96684726 + Missense_Mutation SNP C C T TCGA-AB-2917-03A-01W-0732-08 TCGA-AB-2917-11A-01W-0732-08 C C C T C C Verified Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq 1 dbGAP Illumina HiSeq 77b0ecc5-d93d-44bf-b2da-fda304c4810b 52fc3d72-1205-44db-8c5b-1e8750a98313 X 96571382 96571382 C T SNP DIAPH2 NM_006729.4 human genbank 54_36p +1 reviewed missense c.3223 p.R1075W 1.000 NULL HMMSmart_SM00498,HMMPfam_Drf_DAD,HMMPfam_Drf_FH3,HMMPfam_Drf_GBD,HMMPfam_FH2,superfamily_Formin homology 2 domain (FH2 domain) - no_errors 208 9 4.09 103 86 45.26 19 0 0.00 +CDK11A 0 genome.wustl.edu 37 1 1571791 1571791 + Nonsense_Mutation SNP G G A TCGA-AB-2917-03A-01W-0732-08 TCGA-AB-2917-11A-01W-0732-08 G G G A G G Verified Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq 1 dbGAP Illumina HiSeq 77b0ecc5-d93d-44bf-b2da-fda304c4810b 52fc3d72-1205-44db-8c5b-1e8750a98313 1 1561654 1561654 G A SNP CDC2L2 NM_033529.2 human genbank 54_36p -1 reviewed nonsense c.1969 p.Q657* 0.978 NULL NULL - pseudogene:no_stop_codon:bad_bp_length_for_coding_region 30 0 0.00 27 11 28.95 47 2 4.08 +GJB3 0 genome.wustl.edu 37 1 35251009 35251009 + Nonsense_Mutation SNP C C T TCGA-AB-2917-03A-01W-0732-08 TCGA-AB-2917-11A-01W-0732-08 C C C T C C Verified Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq 1 dbGAP Illumina HiSeq 77b0ecc5-d93d-44bf-b2da-fda304c4810b 52fc3d72-1205-44db-8c5b-1e8750a98313 1 35023596 35023596 C T SNP GJB3 NM_001005752.1 human genbank 54_36p +1 reviewed nonsense c.646 p.R216* 0.009 NULL HMMPfam_Connexin,HMMSmart_SM00037,PatternScan_CONNEXINS_1,PatternScan_CONNEXINS_2,HMMPfam_Connexin_CCC - no_errors 64 0 0.00 66 58 46.40 NA NA NA +PDC 0 genome.wustl.edu 37 1 186415594 186415594 + Missense_Mutation SNP C C A TCGA-AB-2917-03A-01W-0732-08 TCGA-AB-2917-11A-01W-0732-08 C C C A C C Verified Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq 1 dbGAP Illumina HiSeq 77b0ecc5-d93d-44bf-b2da-fda304c4810b 52fc3d72-1205-44db-8c5b-1e8750a98313 1 184682217 184682217 C A SNP PDC NM_002597.3 human genbank 54_36p -1 reviewed missense c.177 p.R59S 0.996 HMMPfam_Phosducin,superfamily_Thiordxn-like_fd HMMPfam_Phosducin,superfamily_Thiordxn-like_fd - no_errors 237 6 2.45 172 113 39.65 2 0 0.00 +SCN1A 0 genome.wustl.edu 37 2 166901716 166901716 + Missense_Mutation SNP C C T TCGA-AB-2917-03A-01W-0732-08 TCGA-AB-2917-11A-01W-0732-08 C C C T C C Verified Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq 1 dbGAP Illumina HiSeq 77b0ecc5-d93d-44bf-b2da-fda304c4810b 52fc3d72-1205-44db-8c5b-1e8750a98313 2 166609962 166609962 C T SNP SCN1A NM_006920.4 human genbank 54_36p -1 validated missense c.1499 p.R500Q 1.000 NULL HMMPfam_IQ,HMMSmart_IQ,HMMPfam_Ion_trans,HMMPfam_Na_trans_assoc,PatternScan_RIBONUCLEASE_P,superfamily_SSF81324 - no_errors 197 6 2.94 121 102 45.74 NA NA NA +LOC100128936 0 genome.wustl.edu 37 3 61728457 61728457 + Missense_Mutation SNP G G A TCGA-AB-2917-03A-01W-0732-08 TCGA-AB-2917-11A-01W-0732-08 G G G A G G Verified Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq 1 dbGAP Illumina HiSeq 77b0ecc5-d93d-44bf-b2da-fda304c4810b 52fc3d72-1205-44db-8c5b-1e8750a98313 3 61703497 61703497 G A SNP LOC100128936 XM_001726108.1 human genbank 54_36p -1 model missense c.74 p.A25V 1.000 HMMPfam_Ribosomal_L1,superfamily_Ribosomal protein L1 HMMPfam_Ribosomal_L1,PatternScan_RIBOSOMAL_L1,superfamily_Ribosomal protein L1 - pseudogene 114 3 2.56 105 92 46.70 1366 1 0.07 +GPR78 0 genome.wustl.edu 37 4 8588898 8588898 + Silent SNP G G A TCGA-AB-2917-03A-01W-0732-08 TCGA-AB-2917-11A-01W-0732-08 G G G A G G Verified Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq 1 dbGAP Illumina HiSeq 77b0ecc5-d93d-44bf-b2da-fda304c4810b 52fc3d72-1205-44db-8c5b-1e8750a98313 4 8639798 8639798 G A SNP GPR78 NM_080819.2 human genbank 54_36p +1 validated silent c.900 p.P300 1.000 superfamily_Family A G protein-coupled receptor-like HMMPfam_7tm_1,superfamily_Family A G protein-coupled receptor-like - no_errors 56 3 5.08 19 26 56.52 NA NA NA +COL12A1 0 genome.wustl.edu 37 6 75823318 75823318 + Missense_Mutation SNP G G A TCGA-AB-2917-03A-01W-0732-08 TCGA-AB-2917-11A-01W-0732-08 G G G A G G Verified Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq 1 dbGAP Illumina HiSeq 77b0ecc5-d93d-44bf-b2da-fda304c4810b 52fc3d72-1205-44db-8c5b-1e8750a98313 6 75880038 75880038 G A SNP COL12A1 NM_004370.5 human genbank 54_36p -1 reviewed missense c.7840 p.P2614S 1.000 HMMSmart_SM00210,superfamily_Concanavalin A-like lectins/glucanases HMMPfam_VWA,HMMSmart_SM00327,HMMSmart_SM00210,HMMPfam_fn3,HMMSmart_SM00060,HMMPfam_Collagen,superfamily_Fibronectin type III,superfamily_Concanavalin A-like lectins/glucanases,superfamily_vWA-like - no_errors 180 8 4.23 134 99 42.49 NA NA NA +BAIAP2L1 0 genome.wustl.edu 37 7 97937047 97937047 + Missense_Mutation SNP C C T TCGA-AB-2917-03A-01W-0732-08 TCGA-AB-2917-11A-01W-0732-08 C C C T C C Verified Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq 1 dbGAP Illumina HiSeq 77b0ecc5-d93d-44bf-b2da-fda304c4810b 52fc3d72-1205-44db-8c5b-1e8750a98313 7 97774983 97774983 C T SNP BAIAP2L1 NM_018842.3 human genbank 54_36p -1 provisional missense c.1117 p.E373K 0.993 HMMSmart_SH3,superfamily_SH3,HMMPfam_SH3_2 HMMSmart_SH3,superfamily_SH3,HMMPfam_SH3_2,HMMPfam_IMD - no_errors 146 0 0.00 131 20 13.07 1 0 0.00 +SLC7A13 0 genome.wustl.edu 37 8 87242055 87242055 + Missense_Mutation SNP C C T TCGA-AB-2917-03A-01W-0732-08 TCGA-AB-2917-11A-01W-0732-08 C C C T C C Verified Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq 1 dbGAP Illumina HiSeq 77b0ecc5-d93d-44bf-b2da-fda304c4810b 52fc3d72-1205-44db-8c5b-1e8750a98313 8 87311171 87311171 C T SNP SLC7A13 NM_138817.2 human genbank 54_36p -1 validated missense c.452 p.R151H 0.114 NULL HMMPfam_AA_permease - no_errors 173 0 0.00 170 43 20.09 NA NA NA +C9orf174 0 genome.wustl.edu 37 9 100085148 100085148 + Missense_Mutation SNP G G A TCGA-AB-2917-03A-01W-0732-08 TCGA-AB-2917-11A-01W-0732-08 G G G A G G Verified Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq 1 dbGAP Illumina HiSeq 77b0ecc5-d93d-44bf-b2da-fda304c4810b 52fc3d72-1205-44db-8c5b-1e8750a98313 9 99124969 99124969 G A SNP KIAA1529 NM_020893.1 human genbank 54_36p +1 predicted missense c.1742 p.R581H 0.998 NULL NULL - no_errors 130 1 0.76 128 30 18.40 3 2 40.00 +LTBP3 0 genome.wustl.edu 37 11 65320427 65320427 + Missense_Mutation SNP C C T TCGA-AB-2917-03A-01W-0732-08 TCGA-AB-2917-11A-01W-0732-08 C C C T C C Verified Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq 1 dbGAP Illumina HiSeq 77b0ecc5-d93d-44bf-b2da-fda304c4810b 52fc3d72-1205-44db-8c5b-1e8750a98313 11 65077003 65077003 C T SNP LTBP3 NM_021070.1 human genbank 54_36p -1 validated missense c.1090 p.V364M 1.000 HMMSmart_EGF_CA,HMMPfam_EGF_CA,PatternScan_EGF_CA,superfamily_SSF57196 PatternScan_ASX_HYDROXYL,HMMSmart_EGF_CA,HMMPfam_TB,superfamily_Fibril-assoc,HMMPfam_EGF,HMMSmart_EGF,PatternScan_EGF_1,PatternScan_EGF_2,HMMPfam_EGF_CA,PatternScan_EGF_CA,superfamily_SSF57196 - no_errors 200 7 3.35 61 45 42.45 19 12 38.71 +KRAS 0 genome.wustl.edu 37 12 25398211 25398211 + Missense_Mutation SNP T T C TCGA-AB-2917-03A-01W-0732-08 TCGA-AB-2917-11A-01W-0732-08 T T T C T T Verified Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq 1 dbGAP Illumina HiSeq 77b0ecc5-d93d-44bf-b2da-fda304c4810b 52fc3d72-1205-44db-8c5b-1e8750a98313 12 25289478 25289478 T C SNP KRAS NM_033360.3 human genbank 54_36p -1 reviewed missense c.108 p.I36M 1.000 HMMSmart_SM00176,HMMSmart_SM00173,HMMSmart_SM00174,HMMSmart_SM00175,HMMPfam_Ras,superfamily_P-loop containing nucleoside triphosphate hydrolases HMMSmart_SM00176,HMMSmart_SM00173,HMMSmart_SM00174,HMMSmart_SM00175,HMMPfam_Ras,superfamily_P-loop containing nucleoside triphosphate hydrolases - no_errors 45 1 2.17 27 41 60.29 2 33 94.29 +DBX2 0 genome.wustl.edu 37 12 45410290 45410290 + Missense_Mutation SNP G G A TCGA-AB-2917-03A-01W-0732-08 TCGA-AB-2917-11A-01W-0732-08 G G G A G G Verified Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq 1 dbGAP Illumina HiSeq 77b0ecc5-d93d-44bf-b2da-fda304c4810b 52fc3d72-1205-44db-8c5b-1e8750a98313 12 43696557 43696557 G A SNP DBX2 NM_001004329.2 human genbank 54_36p -1 validated missense c.799 p.R267W 0.001 NULL HMMPfam_Homeobox,HMMSmart_SM00389,superfamily_Homeodomain-like,PatternScan_HOMEOBOX_1 - no_errors 182 5 2.66 81 131 61.50 NA NA NA +SETBP1 0 genome.wustl.edu 37 18 42531907 42531907 + Missense_Mutation SNP G G A TCGA-AB-2917-03A-01W-0732-08 TCGA-AB-2917-11A-01W-0732-08 G G G A G G Verified Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq 1 dbGAP Illumina HiSeq 77b0ecc5-d93d-44bf-b2da-fda304c4810b 52fc3d72-1205-44db-8c5b-1e8750a98313 18 40785905 40785905 G A SNP SETBP1 NM_015559.1 human genbank 54_36p +1 validated missense c.2440 p.D814N 1.000 NULL HMMPfam_AT_hook,HMMSmart_AT_hook - no_errors 149 6 3.85 100 102 50.25 20 19 48.72 +OR7D4 0 genome.wustl.edu 37 19 9324994 9324994 + Missense_Mutation SNP T T A TCGA-AB-2917-03A-01W-0732-08 TCGA-AB-2917-11A-01W-0732-08 T T T A T T Verified Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq 1 dbGAP Illumina HiSeq 77b0ecc5-d93d-44bf-b2da-fda304c4810b 52fc3d72-1205-44db-8c5b-1e8750a98313 19 9185994 9185994 T A SNP OR7D4 NM_001005191.1 human genbank 54_36p -1 provisional missense c.520 p.I174F 0.000 HMMPfam_7tm_1,superfamily_Family A G protein-coupled receptor-like HMMPfam_7tm_1,PatternScan_G_PROTEIN_RECEP_F1_1,superfamily_Family A G protein-coupled receptor-like - no_errors 235 11 4.42 197 177 47.20 NA NA NA +DNAH5 0 genome.wustl.edu 37 5 13841909 13841909 + Silent SNP A A G TCGA-AB-2918-03A-01W-0745-08 TCGA-AB-2918-11A-01W-0761-09 A A A G A A Verified Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq 1 dbGAP Illumina HiSeq d0833641-77a1-41fd-b635-d216b00d007b 01fd9c89-fbcb-493a-8137-c03c0cbb53da 5 13894909 13894909 A G SNP DNAH5 NM_001369.2 human genbank 54_36p -1 validated silent c.5376 p.L1792 0.058 HMMPfam_DHC_N2 HMMSmart_AAA,HMMPfam_Dynein_heavy,HMMPfam_AAA_5,HMMPfam_DHC_N1,HMMPfam_DHC_N2,superfamily_Spectrin,superfamily_SSF52540 - no_errors 131 24 15.48 127 104 44.64 NA NA NA +FLT3 0 genome.wustl.edu 37 13 28608254 28608255 + In_Frame_Ins INS - - ATCATATTCATATTCTCTGAA TCGA-AB-2918-03A-01W-0745-08 TCGA-AB-2918-11A-01W-0761-09 - - - ATCATATTCATATTCTCTGAA - - Verified Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq 1 dbGAP Illumina HiSeq d0833641-77a1-41fd-b635-d216b00d007b 01fd9c89-fbcb-493a-8137-c03c0cbb53da 13 27506254 27506255 - ATCATATTCATATTCTCTGAA INS FLT3 NM_004119.2 human genbank 54_36p -1 reviewed in_frame_ins c.1802_1801 p.602in_frame_insQRI*I*F 1.000:1.000 superfamily_Kinase_like HMMPfam_Pkinase_Tyr,HMMSmart_TyrKc,PatternScan_RECEPTOR_TYR_KIN_III,PatternScan_PROTEIN_KINASE_TYR,superfamily_Kinase_like,HMMPfam_ig,PatternScan_PROTEIN_KINASE_ATP,superfamily_SSF48726 - no_errors NA NA NA NA NA NA NA NA NA +MAP7D2 0 genome.wustl.edu 37 X 20033425 20033425 + Silent SNP C C T TCGA-AB-2919-03A-01W-0745-08 TCGA-AB-2919-11A-01W-0745-08 C C C T C C Verified Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq 1 dbGAP Illumina HiSeq 296585d2-3c3a-42ae-a565-250ca150353b 8e5dd512-6e0d-4dfd-8e74-d66bff89b042 X 19943346 19943346 C T SNP MAP7D2 NM_152780.2 human genbank 54_36p -1 provisional silent c.1542 p.K514 0.996 HMMPfam_MAP7 HMMPfam_MAP7 - no_errors 130 0 0.00 141 117 45.35 NA NA NA +RBBP4 0 genome.wustl.edu 37 1 33138072 33138072 + Missense_Mutation SNP G G A TCGA-AB-2919-03A-01W-0745-08 TCGA-AB-2919-11A-01W-0745-08 G G G A G G Verified Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq 1 dbGAP Illumina HiSeq 296585d2-3c3a-42ae-a565-250ca150353b 8e5dd512-6e0d-4dfd-8e74-d66bff89b042 1 32910659 32910659 G A SNP RBBP4 NM_005610.1 human genbank 54_36p +1 reviewed missense c.988 p.E330K 1.000 HMMSmart_SM00320,superfamily_WD40 repeat-like,HMMPfam_WD40 HMMSmart_SM00320,superfamily_WD40 repeat-like,PatternScan_WD_REPEATS_1,HMMPfam_WD40 - no_errors 153 0 0.00 110 20 15.38 68 20 22.73 +MYBPHL 0 genome.wustl.edu 37 1 109839466 109839466 + Silent SNP G G A TCGA-AB-2919-03A-01W-0745-08 TCGA-AB-2919-11A-01W-0745-08 G G G A G G Verified Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq 1 dbGAP Illumina HiSeq 296585d2-3c3a-42ae-a565-250ca150353b 8e5dd512-6e0d-4dfd-8e74-d66bff89b042 1 109640989 109640989 G A SNP MYBPHL NM_001010985.2 human genbank 54_36p -1 validated silent c.669 p.N223 0.996 HMMPfam_fn3,HMMSmart_SM00060,superfamily_Fibronectin type III HMMSmart_SM00408,HMMSmart_SM00409,HMMPfam_fn3,HMMSmart_SM00060,superfamily_Fibronectin type III,HMMPfam_I-set,superfamily_Immunoglobulin - no_errors 120 0 0.00 82 85 49.42 NA NA NA +DNMT3A 0 genome.wustl.edu 37 2 25468186 25468186 + Missense_Mutation SNP C C T TCGA-AB-2919-03A-01W-0745-08 TCGA-AB-2919-11A-01W-0745-08 C C C T C C Verified Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq 1 dbGAP Illumina HiSeq 296585d2-3c3a-42ae-a565-250ca150353b 8e5dd512-6e0d-4dfd-8e74-d66bff89b042 2 25321690 25321690 C T SNP DNMT3A NM_022552.3 human genbank 54_36p -1 reviewed missense c.1490 p.C497Y 1.000 NULL HMMPfam_PWWP,HMMSmart_SM00293,HMMPfam_DNA_methylase,superfamily_FYVE/PHD zinc finger,PatternScan_C5_MTASE_1,superfamily_S-adenosyl-L-methionine-dependent methyltransferases,superfamily_Tudor/PWWP/MBT - no_errors 23 0 0.00 17 26 60.47 15 49 76.56 +RIF1 0 genome.wustl.edu 37 2 152319466 152319466 + Missense_Mutation SNP T T A TCGA-AB-2919-03A-01W-0745-08 TCGA-AB-2919-11A-01W-0745-08 T T T A T T Verified Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq 1 dbGAP Illumina HiSeq 296585d2-3c3a-42ae-a565-250ca150353b 8e5dd512-6e0d-4dfd-8e74-d66bff89b042 2 152027712 152027712 T A SNP RIF1 NM_018151.3 human genbank 54_36p +1 validated missense c.3432 p.H1144Q 0.057 superfamily_ARM repeat superfamily_ARM repeat,PatternScan_ABC_TRANSPORTER_1 - no_errors 60 1 1.64 69 79 52.67 33 35 51.47 +IDH1 0 genome.wustl.edu 37 2 209113113 209113113 + Missense_Mutation SNP G G A rs121913499 TCGA-AB-2919-03A-01W-0745-08 TCGA-AB-2919-11A-01W-0745-08 G G G A G G Verified Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq 1 dbGAP Illumina HiSeq 296585d2-3c3a-42ae-a565-250ca150353b 8e5dd512-6e0d-4dfd-8e74-d66bff89b042 2 208821358 208821358 G A SNP IDH1 NM_005896.2 human genbank 54_36p -1 reviewed missense c.394 p.R132C 1.000 HMMPfam_Iso_dh,superfamily_Isocitrate/Isopropylmalate dehydrogenase-like HMMPfam_Iso_dh,PatternScan_IDH_IMDH,superfamily_Isocitrate/Isopropylmalate dehydrogenase-like - no_errors 43 0 0.00 64 49 42.98 34 38 52.78 +UBP1 0 genome.wustl.edu 37 3 33450276 33450276 + Missense_Mutation SNP G G T TCGA-AB-2919-03A-01W-0745-08 TCGA-AB-2919-11A-01W-0745-08 G G G T G G Verified Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq 1 dbGAP Illumina HiSeq 296585d2-3c3a-42ae-a565-250ca150353b 8e5dd512-6e0d-4dfd-8e74-d66bff89b042 3 33425280 33425280 G T SNP UBP1 NM_014517.1 human genbank 54_36p -1 validated missense c.833 p.P278H 1.000 NULL HMMPfam_CP2,superfamily_SAM/Pointed domain - no_errors 218 2 0.90 169 155 47.40 36 23 38.98 +GRIK2 0 genome.wustl.edu 37 6 102516280 102516280 + Missense_Mutation SNP G G A TCGA-AB-2919-03A-01W-0745-08 TCGA-AB-2919-11A-01W-0745-08 G G G A G G Verified Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq 1 dbGAP Illumina HiSeq 296585d2-3c3a-42ae-a565-250ca150353b 8e5dd512-6e0d-4dfd-8e74-d66bff89b042 6 102622973 102622973 G A SNP GRIK2 NM_021956.3 human genbank 54_36p +1 reviewed missense c.2621 p.R874Q 1.000 NULL HMMPfam_Lig_chan,HMMSmart_SM00079,HMMPfam_ANF_receptor,HMMPfam_Lig_chan-Glu_bd,superfamily_Periplasmic binding protein-like I,superfamily_Periplasmic binding protein-like II - no_errors 165 2 1.20 191 37 16.23 NA NA NA +MPDZ 0 genome.wustl.edu 37 9 13224490 13224490 + Silent SNP C C T TCGA-AB-2919-03A-01W-0745-08 TCGA-AB-2919-11A-01W-0745-08 C C C T C C Verified Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq 1 dbGAP Illumina HiSeq 296585d2-3c3a-42ae-a565-250ca150353b 8e5dd512-6e0d-4dfd-8e74-d66bff89b042 9 13214490 13214490 C T SNP MPDZ NM_003829.3 human genbank 54_36p -1 validated silent c.276 p.S92 0.705 NULL HMMPfam_PDZ,HMMSmart_SM00228,superfamily_PDZ domain-like,HMMPfam_L27_2,superfamily_L27 domain - no_errors 127 1 0.78 130 88 40.37 1 0 0.00 +WT1 0 genome.wustl.edu 37 11 32413557 32413557 + Missense_Mutation SNP G G A TCGA-AB-2919-03A-01W-0745-08 TCGA-AB-2919-11A-01W-0745-08 G G G A G G Verified Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq 1 dbGAP Illumina HiSeq 296585d2-3c3a-42ae-a565-250ca150353b 8e5dd512-6e0d-4dfd-8e74-d66bff89b042 11 32370133 32370133 G A SNP WT1 NM_024426.3 human genbank 54_36p -1 reviewed missense c.1393 p.H465Y 1.000 HMMPfam_zf-C2H2,PatternScan_ZINC_FINGER_C2H2_1,HMMSmart_SM00355,superfamily_C2H2 and C2HC zinc fingers HMMPfam_WT1,HMMPfam_zf-C2H2,PatternScan_ZINC_FINGER_C2H2_1,HMMSmart_SM00355,superfamily_C2H2 and C2HC zinc fingers - no_errors 86 0 0.00 119 41 25.47 62 12 16.22 +FAM48A 0 genome.wustl.edu 37 13 37591471 37591471 + Missense_Mutation SNP G G C TCGA-AB-2919-03A-01W-0745-08 TCGA-AB-2919-11A-01W-0745-08 G G G C G G Verified Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq 1 dbGAP Illumina HiSeq 296585d2-3c3a-42ae-a565-250ca150353b 8e5dd512-6e0d-4dfd-8e74-d66bff89b042 13 36489471 36489471 G C SNP FAM48A NM_001014286.2 human genbank 54_36p -1 validated missense c.1903 p.L635V 1.000 NULL NULL - no_errors 115 1 0.86 102 98 48.76 46 48 51.06 +IGLV3-27 0 genome.wustl.edu 37 22 23011172 23011172 + Nonsense_Mutation SNP C C T TCGA-AB-2919-03A-01W-0745-08 TCGA-AB-2919-11A-01W-0745-08 C C C T C C Verified Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq 1 dbGAP Illumina HiSeq 296585d2-3c3a-42ae-a565-250ca150353b 8e5dd512-6e0d-4dfd-8e74-d66bff89b042 22 21341172 21341172 C T SNP IGLV3-27 ENST00000390304 human ensembl 54_36p +1 known nonsense c.235 p.R79* 0.399 HMMSmart_SM00406,HMMSmart_SM00409,HMMPfam_V-set,superfamily_Immunoglobulin HMMSmart_SM00406,HMMSmart_SM00409,HMMPfam_V-set,superfamily_Immunoglobulin - no_stop_codon:bad_bp_length_for_coding_region 25 1 3.85 27 34 55.74 20 0 0.00 +NPM1 0 genome.wustl.edu 37 5 170837543 170837544 + Frame_Shift_Ins INS - - TCTG TCGA-AB-2919-03A-01W-0745-08 TCGA-AB-2919-11A-01W-0745-08 - - - TCTG - - Verified Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq 1 dbGAP Illumina HiSeq 296585d2-3c3a-42ae-a565-250ca150353b 8e5dd512-6e0d-4dfd-8e74-d66bff89b042 5 170770148 170770149 - TCTG INS NPM1 NM_002520.1 human genbank 54_36p +1 validated frame_shift_ins c.859_860 p.W288fs 1.000:1.000 NULL HMMPfam_Nucleoplasmin,superfamily_Nucleoplasmin-like core domain - no_errors NA NA NA NA NA NA NA NA NA +PEAR1 0 genome.wustl.edu 37 1 156875138 156875138 + Missense_Mutation SNP C C T TCGA-AB-2920-03A-01W-0732-08 TCGA-AB-2920-11A-01W-0732-08 C C C T C C Verified Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq 1 dbGAP Illumina HiSeq 03508d3a-3bc2-4ec1-91cd-80a9f5aadad5 4ab04cad-cee0-4f9f-80b7-66d2472f5e31 1 155141762 155141762 C T SNP PEAR1 NM_001080471.1 human genbank 54_36p +1 provisional missense c.229 p.R77C 0.994 HMMPfam_EMI HMMPfam_Laminin_EGF,HMMSmart_EGF_Lam,HMMSmart_EGF,superfamily_Grow_fac_recept,HMMPfam_EMI,PatternScan_EGF_1,PatternScan_EGF_2,HMMPfam_EGF_2 - no_errors 59 1 1.67 96 75 43.86 1 1 50.00 +MAL 0 genome.wustl.edu 37 2 95715340 95715340 + Silent SNP C C T TCGA-AB-2920-03A-01W-0732-08 TCGA-AB-2920-11A-01W-0732-08 C C C T C C Verified Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq 1 dbGAP Illumina HiSeq 03508d3a-3bc2-4ec1-91cd-80a9f5aadad5 4ab04cad-cee0-4f9f-80b7-66d2472f5e31 2 95079067 95079067 C T SNP MAL NM_002371.2 human genbank 54_36p +1 reviewed silent c.276 p.H92 0.425 HMMPfam_MARVEL HMMPfam_MARVEL - no_errors 20 2 9.09 46 36 43.37 15 0 0.00 +ABCF1 0 genome.wustl.edu 37 6 30554429 30554429 + Missense_Mutation SNP G G A TCGA-AB-2920-03A-01W-0732-08 TCGA-AB-2920-11A-01W-0732-08 G G G A G G Verified Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq 1 dbGAP Illumina HiSeq 03508d3a-3bc2-4ec1-91cd-80a9f5aadad5 4ab04cad-cee0-4f9f-80b7-66d2472f5e31 6 30662408 30662408 G A SNP ABCF1 NM_001025091.1 human genbank 54_36p +1 reviewed missense c.1972 p.G658S 1.000 HMMPfam_ABC_tran,HMMSmart_SM00382,superfamily_P-loop containing nucleoside triphosphate hydrolases HMMPfam_ABC_tran,HMMSmart_SM00382,PatternScan_ABC_TRANSPORTER_1,superfamily_P-loop containing nucleoside triphosphate hydrolases - no_errors 238 19 7.39 281 199 40.95 22 36 62.07 +VARS2 0 genome.wustl.edu 37 6 30886617 30886617 + Silent SNP G G A TCGA-AB-2920-03A-01W-0732-08 TCGA-AB-2920-11A-01W-0732-08 G G G A G G Verified Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq 1 dbGAP Illumina HiSeq 03508d3a-3bc2-4ec1-91cd-80a9f5aadad5 4ab04cad-cee0-4f9f-80b7-66d2472f5e31 6 30994596 30994596 G A SNP VARS2 NM_020442.3 human genbank 54_36p +1 provisional silent c.999 p.V333 0.615 HMMPfam_tRNA-synt_1,superfamily_ValRS/IleRS/LeuRS editing domain,superfamily_Nucleotidylyl transferase PatternScan_AA_TRNA_LIGASE_I,HMMPfam_tRNA-synt_1,superfamily_ValRS/IleRS/LeuRS editing domain,superfamily_Anticodon-binding domain of a subclass of class I aminoacyl-tRNA synthetases,HMMPfam_Anticodon_1,superfamily_Nucleotidylyl transferase - no_errors 71 7 8.97 123 112 47.26 49 62 55.86 +ACTL7A 0 genome.wustl.edu 37 9 111625878 111625878 + Missense_Mutation SNP G G C TCGA-AB-2920-03A-01W-0732-08 TCGA-AB-2920-11A-01W-0732-08 G G G C G G Verified Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq 1 dbGAP Illumina HiSeq 03508d3a-3bc2-4ec1-91cd-80a9f5aadad5 4ab04cad-cee0-4f9f-80b7-66d2472f5e31 9 110665699 110665699 G C SNP ACTL7A NM_006687.2 human genbank 54_36p +1 reviewed missense c.1276 p.G426R 1.000 HMMPfam_Actin,HMMSmart_SM00268,superfamily_Actin-like ATPase domain HMMPfam_Actin,HMMSmart_SM00268,superfamily_Actin-like ATPase domain - no_errors 37 1 2.63 61 67 52.34 NA NA NA +FAM166A 0 genome.wustl.edu 37 9 140140111 140140111 + Missense_Mutation SNP G G A TCGA-AB-2920-03A-01W-0732-08 TCGA-AB-2920-11A-01W-0732-08 G G G A G G Verified Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq 1 dbGAP Illumina HiSeq 03508d3a-3bc2-4ec1-91cd-80a9f5aadad5 4ab04cad-cee0-4f9f-80b7-66d2472f5e31 9 139259932 139259932 G A SNP FAM166A NM_001001710.1 human genbank 54_36p -1 predicted missense c.251 p.P84L 0.990 NULL HMMPfam_DUF2475 - no_errors 6 0 0.00 1 4 80.00 0 1 100.00 +KCNA4 0 genome.wustl.edu 37 11 30033933 30033933 + Missense_Mutation SNP C C T TCGA-AB-2920-03A-01W-0732-08 TCGA-AB-2920-11A-01W-0732-08 C C C T C C Verified Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq 1 dbGAP Illumina HiSeq 03508d3a-3bc2-4ec1-91cd-80a9f5aadad5 4ab04cad-cee0-4f9f-80b7-66d2472f5e31 11 29990509 29990509 C T SNP KCNA4 NM_002233.2 human genbank 54_36p -1 reviewed missense c.293 p.R98Q 0.941 NULL HMMSmart_SM00225,HMMPfam_K_tetra,HMMPfam_Ion_trans,superfamily_POZ domain,HMMPfam_K_channel_TID,superfamily_Voltage-gated potassium channels - no_errors 112 8 6.61 118 113 48.50 NA NA NA +ENSG00000204989 0 genome.wustl.edu 37 11 59259781 59259781 + Missense_Mutation SNP G G T TCGA-AB-2920-03A-01W-0732-08 TCGA-AB-2920-11A-01W-0732-08 G G G T G G Verified Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq 1 dbGAP Illumina HiSeq 03508d3a-3bc2-4ec1-91cd-80a9f5aadad5 4ab04cad-cee0-4f9f-80b7-66d2472f5e31 11 59016357 59016357 G T SNP ENSG00000204989 ENST00000378245 human ensembl 54_36p +1 known missense c.552 p.M184I 0.000 HMMPfam_7tm_1,superfamily_SSF81321 HMMPfam_7tm_1,superfamily_SSF81321 - no_errors 139 7 4.79 155 111 40.81 NA NA NA +OR3A2 0 genome.wustl.edu 37 17 3181502 3181502 + Missense_Mutation SNP C C T TCGA-AB-2920-03A-01W-0732-08 TCGA-AB-2920-11A-01W-0732-08 C C C T C C Verified Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq 1 dbGAP Illumina HiSeq 03508d3a-3bc2-4ec1-91cd-80a9f5aadad5 4ab04cad-cee0-4f9f-80b7-66d2472f5e31 17 3128252 3128252 C T SNP OR3A2 NM_002551.3 human genbank 54_36p -1 validated missense c.728 p.R243Q 0.004 HMMPfam_7tm_1,superfamily_SSF81321 HMMPfam_7tm_1,PatternScan_G_PROTEIN_RECEP_F1_1,superfamily_SSF81321 - no_errors 69 0 0.00 175 24 11.88 NA NA NA +NF1 0 genome.wustl.edu 37 17 29562747 29562747 + Missense_Mutation SNP G G A rs137854556 TCGA-AB-2920-03A-01W-0732-08 TCGA-AB-2920-11A-01W-0732-08 G G G A G G Verified Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq 1 dbGAP Illumina HiSeq 03508d3a-3bc2-4ec1-91cd-80a9f5aadad5 4ab04cad-cee0-4f9f-80b7-66d2472f5e31 17 26586873 26586873 G A SNP NF1 NM_001042492.2 human genbank 54_36p +1 reviewed missense c.3827 p.R1276Q 1.000 HMMPfam_RasGAP,HMMSmart_SM00323,superfamily_GTPase activation domain GAP HMMSmart_SM00516,HMMPfam_RasGAP,HMMSmart_SM00323,PatternScan_RAS_GTPASE_ACTIV_1,superfamily_GTPase activation domain GAP - no_errors 66 4 5.71 28 97 77.60 0 11 100.00 +ARHGEF1 0 genome.wustl.edu 37 19 42410133 42410133 + Missense_Mutation SNP G G A TCGA-AB-2920-03A-01W-0732-08 TCGA-AB-2920-11A-01W-0732-08 G G G A G G Verified Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq 1 dbGAP Illumina HiSeq 03508d3a-3bc2-4ec1-91cd-80a9f5aadad5 4ab04cad-cee0-4f9f-80b7-66d2472f5e31 19 47101973 47101973 G A SNP ARHGEF1 NM_199002.3 human genbank 54_36p +1 reviewed missense c.2492 p.R831K 1.000 NULL HMMPfam_RhoGEF,HMMSmart_RhoGEF,superfamily_DH-domain,HMMSmart_PH,HMMPfam_RGS-like,superfamily_Regulat_G_prot_signal_superfam,superfamily_SSF50729 - no_errors 36 2 5.26 43 25 35.71 275 212 43.44 +CBX7 0 genome.wustl.edu 37 22 39534689 39534690 + Frame_Shift_Ins INS - - GCTC TCGA-AB-2920-03A-01W-0732-08 TCGA-AB-2920-11A-01W-0732-08 - - - GCTC - - Verified Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq 1 dbGAP Illumina HiSeq 03508d3a-3bc2-4ec1-91cd-80a9f5aadad5 4ab04cad-cee0-4f9f-80b7-66d2472f5e31 22 37864635 37864636 - GCTC INS CBX7 NM_175709.3 human genbank 54_36p -1 validated frame_shift_ins c.198_197 p.G68fs 0.981:0.999 NULL HMMPfam_Chromo,HMMSmart_CHROMO,PatternScan_CHROMO_1,superfamily_Chromodomain-like - no_errors NA NA NA NA NA NA NA NA NA +CBX7 0 genome.wustl.edu 37 22 39534690 39534691 + Frame_Shift_Ins INS - - GCTC TCGA-AB-2920-03A-01W-0732-08 TCGA-AB-2920-11A-01W-0732-08 - - - GCTC - - Verified Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq 1 dbGAP Illumina HiSeq 03508d3a-3bc2-4ec1-91cd-80a9f5aadad5 4ab04cad-cee0-4f9f-80b7-66d2472f5e31 22 37864636 37864637 - GCTC INS CBX7 NM_175709.3 human genbank 54_36p -1 validated frame_shift_ins c.197_196 p.A66fs 0.999:1.000 NULL HMMPfam_Chromo,HMMSmart_CHROMO,PatternScan_CHROMO_1,superfamily_Chromodomain-like - no_errors NA NA NA NA NA NA NA NA NA +ZNF275 0 genome.wustl.edu 37 X 152611033 152611033 + Silent SNP A A G TCGA-AB-2921-03A-01W-0755-09 TCGA-AB-2921-11A-01W-0755-09 A A A G A A Verified Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq 1 dbGAP Illumina HiSeq 779697fe-899a-4bfb-a1d3-44a847487b6b 927d14ba-cb7d-4d0d-9294-e328023db1b8 X 152264227 152264227 A G SNP ZNF275 NM_001080485.2 human genbank 54_36p +1 validated silent c.255 p.L85 0.000 HMMSmart_SM00349 HMMPfam_KRAB,HMMSmart_SM00349,superfamily_KRAB domain (Kruppel-associated box Pfam 01352),HMMPfam_zf-C2H2,PatternScan_ZINC_FINGER_C2H2_1,HMMSmart_SM00355,superfamily_C2H2 and C2HC zinc fingers - no_errors 96 3 2.97 81 63 43.15 0 6 100.00 +PLA2G2D 0 genome.wustl.edu 37 1 20440642 20440642 + Missense_Mutation SNP G G A TCGA-AB-2921-03A-01W-0755-09 TCGA-AB-2921-11A-01W-0755-09 G G G A G G Verified Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq 1 dbGAP Illumina HiSeq 779697fe-899a-4bfb-a1d3-44a847487b6b 927d14ba-cb7d-4d0d-9294-e328023db1b8 1 20313229 20313229 G A SNP PLA2G2D NM_012400.2 human genbank 54_36p -1 provisional missense c.403 p.R135W 0.037 HMMPfam_Phospholip_A2_1,HMMSmart_PA2c,superfamily_PhospholipaseA2 HMMPfam_Phospholip_A2_1,HMMSmart_PA2c,PatternScan_PA2_HIS,PatternScan_PA2_ASP,superfamily_PhospholipaseA2 - no_errors 58 5 7.81 43 36 44.44 NA NA NA +MAGI3 0 genome.wustl.edu 37 1 114123202 114123202 + Missense_Mutation SNP G G A TCGA-AB-2921-03A-01W-0755-09 TCGA-AB-2921-11A-01W-0755-09 G G G A G G Verified Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq 1 dbGAP Illumina HiSeq 779697fe-899a-4bfb-a1d3-44a847487b6b 927d14ba-cb7d-4d0d-9294-e328023db1b8 1 113924725 113924725 G A SNP MAGI3 NM_152900.1 human genbank 54_36p +1 validated missense c.472 p.V158M 1.000 HMMPfam_Guanylate_kin,HMMSmart_GuKc,PatternScan_GUANYLATE_KINASE_1,superfamily_SSF52540 HMMPfam_WW,HMMSmart_WW,PatternScan_WW_DOMAIN_1,superfamily_WW_Rsp5_WWP,HMMPfam_PDZ,HMMSmart_PDZ,superfamily_PDZ,HMMPfam_Guanylate_kin,HMMSmart_GuKc,PatternScan_GUANYLATE_KINASE_1,superfamily_SSF52540 - no_errors 211 7 3.17 119 74 38.34 NA NA NA +APOB 0 genome.wustl.edu 37 2 21235446 21235446 + Missense_Mutation SNP C C T TCGA-AB-2921-03A-01W-0755-09 TCGA-AB-2921-11A-01W-0755-09 C C C T C C Verified Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq 1 dbGAP Illumina HiSeq 779697fe-899a-4bfb-a1d3-44a847487b6b 927d14ba-cb7d-4d0d-9294-e328023db1b8 2 21088951 21088951 C T SNP APOB NM_000384.2 human genbank 54_36p -1 reviewed missense c.4294 p.D1432N 0.542 NULL HMMPfam_Vitellogenin_N,HMMSmart_SM00638,HMMPfam_DUF1081,HMMPfam_DUF1943,superfamily_Lipovitellin-phosvitin complex beta-sheet shell regions,superfamily_Lipovitellin-phosvitin complex superhelical domain - no_errors 198 4 1.97 139 87 37.83 NA NA NA +NLRC4 0 genome.wustl.edu 37 2 32463290 32463290 + Missense_Mutation SNP A A G TCGA-AB-2921-03A-01W-0755-09 TCGA-AB-2921-11A-01W-0755-09 A A A G A A Verified Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq 1 dbGAP Illumina HiSeq 779697fe-899a-4bfb-a1d3-44a847487b6b 927d14ba-cb7d-4d0d-9294-e328023db1b8 2 32316794 32316794 A G SNP NLRC4 NM_021209.3 human genbank 54_36p -1 validated missense c.2432 p.I811T 0.898 superfamily_RNI-like HMMPfam_CARD,HMMPfam_NACHT,superfamily_DEATH domain,superfamily_RNI-like,superfamily_P-loop containing nucleoside triphosphate hydrolases - no_errors 177 4 2.21 95 63 38.65 15 9 37.50 +GPR128 0 genome.wustl.edu 37 3 100373941 100373941 + Missense_Mutation SNP G G A TCGA-AB-2921-03A-01W-0755-09 TCGA-AB-2921-11A-01W-0755-09 G G G A G G Verified Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq 1 dbGAP Illumina HiSeq 779697fe-899a-4bfb-a1d3-44a847487b6b 927d14ba-cb7d-4d0d-9294-e328023db1b8 3 101856631 101856631 G A SNP GPR128 NM_032787.1 human genbank 54_36p +1 provisional missense c.1642 p.A548T 0.890 HMMPfam_7tm_2 HMMPfam_GPS,HMMSmart_GPS,HMMPfam_7tm_2,PatternScan_G_PROTEIN_RECEP_F2_2 - no_errors 164 3 1.80 90 71 43.29 NA NA NA +SYNPO2 0 genome.wustl.edu 37 4 119952552 119952552 + Silent SNP G G A TCGA-AB-2921-03A-01W-0755-09 TCGA-AB-2921-11A-01W-0755-09 G G G A G G Verified Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq 1 dbGAP Illumina HiSeq 779697fe-899a-4bfb-a1d3-44a847487b6b 927d14ba-cb7d-4d0d-9294-e328023db1b8 4 120172000 120172000 G A SNP SYNPO2 NM_133477.1 human genbank 54_36p +1 validated silent c.2622 p.Q874 0.997 NULL HMMPfam_PDZ,HMMSmart_SM00228,superfamily_PDZ domain-like - no_errors 90 3 3.19 50 37 42.05 NA NA NA +GPX2 0 genome.wustl.edu 37 14 65406527 65406527 + Missense_Mutation SNP G G C TCGA-AB-2921-03A-01W-0755-09 TCGA-AB-2921-11A-01W-0755-09 G G G C G G Verified Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq 1 dbGAP Illumina HiSeq 779697fe-899a-4bfb-a1d3-44a847487b6b 927d14ba-cb7d-4d0d-9294-e328023db1b8 14 64476280 64476280 G C SNP GPX2 NM_002083.2 human genbank 54_36p -1 reviewed missense c.252 p.N84K 1.000 HMMPfam_GSHPx,superfamily_Thioredoxin-like HMMPfam_GSHPx,PatternScan_GLUTATHIONE_PEROXID_2,superfamily_Thioredoxin-like - pseudogene 171 3 1.72 102 71 40.80 2 3 60.00 +EHD2 0 genome.wustl.edu 37 19 48229440 48229440 + Missense_Mutation SNP C C T TCGA-AB-2921-03A-01W-0755-09 TCGA-AB-2921-11A-01W-0755-09 C C C T C C Verified Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq 1 dbGAP Illumina HiSeq 779697fe-899a-4bfb-a1d3-44a847487b6b 927d14ba-cb7d-4d0d-9294-e328023db1b8 19 52921252 52921252 C T SNP EHD2 NM_014601.3 human genbank 54_36p +1 reviewed missense c.874 p.R292C 1.000 NULL HMMSmart_SM00027,HMMPfam_Dynamin_N,PatternScan_EF_HAND_1,superfamily_EF-hand,superfamily_P-loop containing nucleoside triphosphate hydrolases - no_errors 254 11 4.14 107 96 46.83 6 5 45.45 +FLT3 0 genome.wustl.edu 37 13 28608262 28608263 + In_Frame_Ins INS - - CATATTCTCTGAAATCAACGTATC TCGA-AB-2921-03A-01W-0755-09 TCGA-AB-2921-11A-01W-0755-09 - - - CATATTCTCTGAAATCAACGTATC - - Verified Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq 1 dbGAP Illumina HiSeq 779697fe-899a-4bfb-a1d3-44a847487b6b 927d14ba-cb7d-4d0d-9294-e328023db1b8 13 27506262 27506263 - CATATTCTCTGAAATCAACGTATC INS FLT3 NM_004119.2 human genbank 54_36p -1 reviewed in_frame_ins c.1794_1793 p.YDL599in_frame_insIR* 0.789:0.821 superfamily_Kinase_like HMMPfam_Pkinase_Tyr,HMMSmart_TyrKc,PatternScan_RECEPTOR_TYR_KIN_III,PatternScan_PROTEIN_KINASE_TYR,superfamily_Kinase_like,HMMPfam_ig,PatternScan_PROTEIN_KINASE_ATP,superfamily_SSF48726 - no_errors NA NA NA NA NA NA NA NA NA +ARID4B 0 genome.wustl.edu 37 1 235345466 235345466 + Missense_Mutation SNP T T A TCGA-AB-2922-03A-01W-0745-08 TCGA-AB-2922-11A-01W-0745-08 T T T A T T Verified Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq 1 dbGAP Illumina HiSeq 0eb1f4d2-4a5e-4faf-9652-d90f21cc03c8 61430182-d37f-40e8-a096-0cb3cb7b8d7b 1 233412089 233412089 T A SNP ARID4B NM_016374.5 human genbank 54_36p -1 reviewed missense c.2768 p.D923V 1.000 NULL HMMPfam_ARID,HMMSmart_SM00501,superfamily_ARID-like,HMMSmart_SM00333,HMMPfam_RBB1NT - no_errors 109 7 6.03 58 72 55.38 NA NA NA +ENSG00000124399 0 genome.wustl.edu 37 4 43901145 43901145 + Missense_Mutation SNP G G A TCGA-AB-2922-03A-01W-0745-08 TCGA-AB-2922-11A-01W-0745-08 G G G A G G Verified Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq 1 dbGAP Illumina HiSeq 0eb1f4d2-4a5e-4faf-9652-d90f21cc03c8 61430182-d37f-40e8-a096-0cb3cb7b8d7b 4 43595902 43595902 G A SNP ENSG00000124399 ENST00000244249 human ensembl 54_36p +1 known missense c.167 p.R56H 0.091 HMMPfam_NDUF_B4 HMMPfam_NDUF_B4 - no_start_codon 57 6 9.52 68 55 44.72 NA NA NA +CHIC2 0 genome.wustl.edu 37 4 54880243 54880243 + Missense_Mutation SNP C C T TCGA-AB-2922-03A-01W-0745-08 TCGA-AB-2922-11A-01W-0745-08 C C C T C C Verified Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq 1 dbGAP Illumina HiSeq 0eb1f4d2-4a5e-4faf-9652-d90f21cc03c8 61430182-d37f-40e8-a096-0cb3cb7b8d7b 4 54575000 54575000 C T SNP CHIC2 NM_012110.2 human genbank 54_36p -1 reviewed missense c.374 p.R125K 1.000 HMMPfam_Erf4 HMMPfam_Erf4 - no_errors 74 14 15.91 39 53 57.61 NA NA NA +FAT4 0 genome.wustl.edu 37 4 126336627 126336627 + Missense_Mutation SNP G G A TCGA-AB-2922-03A-01W-0745-08 TCGA-AB-2922-11A-01W-0745-08 G G G A G G Verified Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq 1 dbGAP Illumina HiSeq 0eb1f4d2-4a5e-4faf-9652-d90f21cc03c8 61430182-d37f-40e8-a096-0cb3cb7b8d7b 4 126556077 126556077 G A SNP FAT4 NM_024582.4 human genbank 54_36p +1 validated missense c.6509 p.G2170E 1.000 HMMPfam_Cadherin,superfamily_Cadherin PatternScan_ASX_HYDROXYL,HMMSmart_LamG,HMMSmart_EGF_CA,HMMPfam_Cadherin,HMMSmart_CA,PatternScan_CADHERIN_1,HMMPfam_EGF,HMMSmart_EGF,superfamily_ConA_like_lec_gl,HMMPfam_Laminin_G_2,PatternScan_EGF_1,PatternScan_EGF_2,HMMPfam_EGF_CA,superfamily_Cadherin,PatternScan_EGF_CA,superfamily_SSF57196 - no_errors 44 0 0.00 41 24 36.92 NA NA NA +MAP1B 0 genome.wustl.edu 37 5 71495656 71495656 + Silent SNP C C A TCGA-AB-2922-03A-01W-0745-08 TCGA-AB-2922-11A-01W-0745-08 C C C A C C Verified Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq 1 dbGAP Illumina HiSeq 0eb1f4d2-4a5e-4faf-9652-d90f21cc03c8 61430182-d37f-40e8-a096-0cb3cb7b8d7b 5 71531412 71531412 C A SNP MAP1B NM_005909.3 human genbank 54_36p +1 validated silent c.6474 p.T2158 0.567 NULL HMMPfam_MAP1B_neuraxin,PatternScan_MAP1B_NEURAXIN - no_errors 102 11 9.73 94 89 48.63 NA NA NA +VCAN 0 genome.wustl.edu 37 5 82833058 82833058 + Silent SNP T T C TCGA-AB-2922-03A-01W-0745-08 TCGA-AB-2922-11A-01W-0745-08 T T T C T T Verified Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq 1 dbGAP Illumina HiSeq 0eb1f4d2-4a5e-4faf-9652-d90f21cc03c8 61430182-d37f-40e8-a096-0cb3cb7b8d7b 5 82868814 82868814 T C SNP VCAN NM_004385.1 human genbank 54_36p +1 validated silent c.4236 p.N1412 0.996 NULL PatternScan_ASX_HYDROXYL,HMMPfam_Sushi,HMMSmart_SM00032,HMMPfam_Xlink,HMMSmart_SM00445,PatternScan_LINK_1,HMMPfam_Lectin_C,HMMSmart_SM00034,HMMSmart_SM00179,HMMSmart_SM00409,HMMPfam_EGF,HMMSmart_SM00181,PatternScan_EGF_1,PatternScan_EGF_2,HMMPfam_V-set,superfamily_Complement control module/SCR domain,superfamily_C-type lectin-like,PatternScan_EGF_CA,PatternScan_C_TYPE_LECTIN_1,superfamily_Immunoglobulin,superfamily_EGF/Laminin - no_errors 103 18 14.88 77 92 54.44 NA NA NA +PCDHB1 0 genome.wustl.edu 37 5 140433195 140433195 + Missense_Mutation SNP G G A TCGA-AB-2922-03A-01W-0745-08 TCGA-AB-2922-11A-01W-0745-08 G G G A G G Verified Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq 1 dbGAP Illumina HiSeq 0eb1f4d2-4a5e-4faf-9652-d90f21cc03c8 61430182-d37f-40e8-a096-0cb3cb7b8d7b 5 140413379 140413379 G A SNP PCDHB1 NM_013340.2 human genbank 54_36p +1 reviewed missense c.2140 p.V714I 0.032 NULL HMMPfam_Cadherin,HMMSmart_CA,PatternScan_CADHERIN_1,HMMPfam_Cadherin_2,superfamily_Cadherin - no_errors 82 11 11.83 71 57 44.53 NA NA NA +PLG 0 genome.wustl.edu 37 6 161135860 161135860 + Silent SNP C C T TCGA-AB-2922-03A-01W-0745-08 TCGA-AB-2922-11A-01W-0745-08 C C C T C C Verified Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq 1 dbGAP Illumina HiSeq 0eb1f4d2-4a5e-4faf-9652-d90f21cc03c8 61430182-d37f-40e8-a096-0cb3cb7b8d7b 6 161055850 161055850 C T SNP PLG NM_000301.2 human genbank 54_36p +1 validated silent c.582 p.D194 0.917 HMMPfam_Kringle,HMMSmart_KR,superfamily_Kringle-like HMMPfam_Kringle,HMMSmart_KR,HMMPfam_Trypsin,HMMSmart_Tryp_SPc,HMMPfam_PAN_1,HMMSmart_PAN_AP,superfamily_Pept_Ser_Cys,superfamily_Kringle-like,PatternScan_KRINGLE_1,PatternScan_TRYPSIN_HIS,PatternScan_TRYPSIN_SER,superfamily_SSF57414 - no_errors 69 7 9.21 51 79 60.77 NA NA NA +KCNU1 0 genome.wustl.edu 37 8 36776389 36776389 + Missense_Mutation SNP G G A TCGA-AB-2922-03A-01W-0745-08 TCGA-AB-2922-11A-01W-0745-08 G G G A G G Verified Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq 1 dbGAP Illumina HiSeq 0eb1f4d2-4a5e-4faf-9652-d90f21cc03c8 61430182-d37f-40e8-a096-0cb3cb7b8d7b 8 36895547 36895547 G A SNP KCNU1 NM_001031836.2 human genbank 54_36p +1 validated missense c.2570 p.R857Q 0.781 NULL HMMPfam_BK_channel_a,HMMPfam_Ion_trans,superfamily_NAD(P)-bd,superfamily_SSF81324 - no_errors 140 15 9.68 138 92 39.83 NA NA NA +MTA2 0 genome.wustl.edu 37 11 62364125 62364125 + Missense_Mutation SNP T T C TCGA-AB-2922-03A-01W-0745-08 TCGA-AB-2922-11A-01W-0745-08 T T T C T T Verified Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq 1 dbGAP Illumina HiSeq 0eb1f4d2-4a5e-4faf-9652-d90f21cc03c8 61430182-d37f-40e8-a096-0cb3cb7b8d7b 11 62120701 62120701 T C SNP MTA2 NM_004739.2 human genbank 54_36p -1 reviewed missense c.866 p.D289G 1.000 HMMSmart_SANT,HMMPfam_Myb_DNA-binding HMMPfam_GATA,HMMSmart_ZnF_GATA,PatternScan_GATA_ZN_FINGER_1,HMMPfam_ELM2,HMMSmart_SANT,HMMPfam_BAH,HMMSmart_BAH,HMMPfam_Myb_DNA-binding,superfamily_SSF57716 - no_errors 283 36 11.21 161 108 40.15 NA NA NA +CBX5 0 genome.wustl.edu 37 12 54651313 54651313 + Nonsense_Mutation SNP C C T TCGA-AB-2922-03A-01W-0745-08 TCGA-AB-2922-11A-01W-0745-08 C C C T C C Verified Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq 1 dbGAP Illumina HiSeq 0eb1f4d2-4a5e-4faf-9652-d90f21cc03c8 61430182-d37f-40e8-a096-0cb3cb7b8d7b 12 52937580 52937580 C T SNP CBX5 NM_012117.1 human genbank 54_36p -1 reviewed nonsense c.122 p.W41* 1.000 HMMPfam_Chromo,HMMSmart_SM00298,PatternScan_CHROMO_1,superfamily_Chromo domain-like HMMPfam_Chromo,HMMSmart_SM00298,PatternScan_CHROMO_1,HMMPfam_Chromo_shadow,superfamily_Chromo domain-like,HMMSmart_SM00300 - no_errors 65 13 16.67 90 71 44.10 NA NA NA +KCNK13 0 genome.wustl.edu 37 14 90651249 90651249 + Missense_Mutation SNP C C A TCGA-AB-2922-03A-01W-0745-08 TCGA-AB-2922-11A-01W-0745-08 C C C A C C Verified Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq 1 dbGAP Illumina HiSeq 0eb1f4d2-4a5e-4faf-9652-d90f21cc03c8 61430182-d37f-40e8-a096-0cb3cb7b8d7b 14 89721002 89721002 C A SNP KCNK13 NM_022054.2 human genbank 54_36p +1 reviewed missense c.1129 p.Q377K 0.625 NULL HMMPfam_Ion_trans_2,superfamily_Voltage-gated potassium channels - no_errors 16 1 5.88 24 17 41.46 NA NA NA +NECAB2 0 genome.wustl.edu 37 16 84027969 84027969 + Missense_Mutation SNP C C T TCGA-AB-2922-03A-01W-0745-08 TCGA-AB-2922-11A-01W-0745-08 C C C T C C Verified Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq 1 dbGAP Illumina HiSeq 0eb1f4d2-4a5e-4faf-9652-d90f21cc03c8 61430182-d37f-40e8-a096-0cb3cb7b8d7b 16 82585470 82585470 C T SNP NECAB2 NM_019065.2 human genbank 54_36p +1 provisional missense c.659 p.A220V 0.001 NULL HMMSmart_EFh,HMMPfam_ABM,superfamily_Dimer_A_B_barrel,PatternScan_EF_HAND_1,HMMPfam_efhand,superfamily_SSF47473 - no_errors 40 2 4.76 51 48 48.48 NA NA NA +LOC401218 0 genome.wustl.edu 37 5 172189796 172189797 + RNA INS - - AG rs57435005 TCGA-AB-2922-03A-01W-0745-08 TCGA-AB-2922-11A-01W-0745-08 - - - AG - - Verified Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq 1 dbGAP Illumina HiSeq 0eb1f4d2-4a5e-4faf-9652-d90f21cc03c8 61430182-d37f-40e8-a096-0cb3cb7b8d7b 5 172122401 172122402 - AG INS LOC401218 XR_042344.1 human genbank 54_36p -1 model rna NULL NULL 1.000:1.000 - - - pseudogene 131 2 1.50 31 22 41.51 NA NA NA +FLT3 0 genome.wustl.edu 37 13 28608275 28608276 + In_Frame_Ins INS - - AATCAACGTAGAAGTACTCATTATCTTCCGGGG TCGA-AB-2922-03A-01W-0745-08 TCGA-AB-2922-11A-01W-0745-08 - - - AATCAACGTAGAAGTACTCATTATCTTCCGGGG - - Verified Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq 1 dbGAP Illumina HiSeq 0eb1f4d2-4a5e-4faf-9652-d90f21cc03c8 61430182-d37f-40e8-a096-0cb3cb7b8d7b 13 27506275 27506276 - AATCAACGTAGAAGTACTCATTATCTTCCGGGG INS FLT3 NM_004119.2 human genbank 54_36p -1 reviewed in_frame_ins c.1781_1780 p.594in_frame_insSPEDNEYFYVD 1.000:1.000 superfamily_Kinase_like HMMPfam_Pkinase_Tyr,HMMSmart_TyrKc,PatternScan_RECEPTOR_TYR_KIN_III,PatternScan_PROTEIN_KINASE_TYR,superfamily_Kinase_like,HMMPfam_ig,PatternScan_PROTEIN_KINASE_ATP,superfamily_SSF48726 - no_errors NA NA NA NA NA NA NA NA NA +KIAA1683 0 genome.wustl.edu 37 19 18376111 18376112 + Frame_Shift_Ins INS - - C TCGA-AB-2922-03A-01W-0745-08 TCGA-AB-2922-11A-01W-0745-08 - - - C - - Verified Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq 1 dbGAP Illumina HiSeq 0eb1f4d2-4a5e-4faf-9652-d90f21cc03c8 61430182-d37f-40e8-a096-0cb3cb7b8d7b 19 18237111 18237112 - C INS KIAA1683 NM_025249.1 human genbank 54_36p -1 validated frame_shift_ins c.2239_2238 p.Q746fs 0.000:0.000 NULL HMMPfam_IQ,HMMSmart_SM00015,superfamily_P-loop containing nucleoside triphosphate hydrolases - no_errors 14 0 0.00 44 26 37.14 NA NA NA +ASB11 0 genome.wustl.edu 37 X 15306084 15306084 + Missense_Mutation SNP G G A TCGA-AB-2923-03A-01W-0745-08 TCGA-AB-2923-11A-01W-0745-08 G G G A G G Verified Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq 1 dbGAP Illumina HiSeq 26973c94-f1c1-46a1-b753-4f561fd7d451 872c532a-f3d4-4cb5-8ebd-09ff6c9d5cdd X 15216005 15216005 G A SNP ASB11 NM_080873.1 human genbank 54_36p -1 reviewed missense c.766 p.R256C 0.006 HMMPfam_Ank,HMMSmart_ANK,superfamily_ANK HMMPfam_SOCS_box,HMMPfam_Ank,HMMSmart_ANK,superfamily_ANK - no_errors 30 2 6.25 27 8 22.22 NA NA NA +NRAS 0 genome.wustl.edu 37 1 115256529 115256529 + Missense_Mutation SNP T T C rs11554290 TCGA-AB-2923-03A-01W-0745-08 TCGA-AB-2923-11A-01W-0745-08 T T T C T T Verified Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq 1 dbGAP Illumina HiSeq 26973c94-f1c1-46a1-b753-4f561fd7d451 872c532a-f3d4-4cb5-8ebd-09ff6c9d5cdd 1 115058052 115058052 T C SNP NRAS NM_002524.3 human genbank 54_36p -1 reviewed missense c.182 p.Q61R 1.000 HMMSmart_SM00173,HMMSmart_SM00174,HMMSmart_SM00175,HMMPfam_Ras,superfamily_P-loop containing nucleoside triphosphate hydrolases HMMSmart_SM00173,HMMSmart_SM00174,HMMSmart_SM00175,HMMPfam_Ras,superfamily_P-loop containing nucleoside triphosphate hydrolases - no_errors 97 2 2.00 73 14 16.09 NA NA NA +CGN 0 genome.wustl.edu 37 1 151506464 151506464 + Missense_Mutation SNP G G A TCGA-AB-2923-03A-01W-0745-08 TCGA-AB-2923-11A-01W-0745-08 G G G A G G Verified Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq 1 dbGAP Illumina HiSeq 26973c94-f1c1-46a1-b753-4f561fd7d451 872c532a-f3d4-4cb5-8ebd-09ff6c9d5cdd 1 149773088 149773088 G A SNP CGN NM_020770.2 human genbank 54_36p +1 validated missense c.2756 p.R919Q 1.000 NULL HMMPfam_Myosin_tail_1 - no_errors 44 1 2.22 25 22 46.81 NA NA NA +CR1 0 genome.wustl.edu 37 1 207785328 207785328 + Missense_Mutation SNP G G A TCGA-AB-2923-03A-01W-0745-08 TCGA-AB-2923-11A-01W-0745-08 G G G A G G Verified Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq 1 dbGAP Illumina HiSeq 26973c94-f1c1-46a1-b753-4f561fd7d451 872c532a-f3d4-4cb5-8ebd-09ff6c9d5cdd 1 205851951 205851951 G A SNP CR1 NM_000651.3 human genbank 54_36p +1 reviewed missense c.6517 p.V2173M 0.019 HMMPfam_Sushi,HMMSmart_SM00032,superfamily_Complement control module/SCR domain HMMPfam_Sushi,HMMSmart_SM00032,superfamily_Complement control module/SCR domain - no_errors 59 3 4.76 37 39 51.32 NA NA NA +RNF25 0 genome.wustl.edu 37 2 219533395 219533395 + Missense_Mutation SNP G G T TCGA-AB-2923-03A-01W-0745-08 TCGA-AB-2923-11A-01W-0745-08 G G G T G G Verified Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq 1 dbGAP Illumina HiSeq 26973c94-f1c1-46a1-b753-4f561fd7d451 872c532a-f3d4-4cb5-8ebd-09ff6c9d5cdd 2 219241639 219241639 G T SNP RNF25 NM_022453.2 human genbank 54_36p -1 reviewed missense c.49 p.P17T 1.000 HMMPfam_RWD HMMSmart_SM00184,HMMPfam_RWD,HMMSmart_SM00591,superfamily_UBC-like,HMMPfam_zf-C3HC4,superfamily_RING/U-box - no_errors 74 0 0.00 54 39 41.94 NA NA NA +CCL20 0 genome.wustl.edu 37 2 228680272 228680272 + Missense_Mutation SNP T T A TCGA-AB-2923-03A-01W-0745-08 TCGA-AB-2923-11A-01W-0745-08 T T T A T T Verified Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq 1 dbGAP Illumina HiSeq 26973c94-f1c1-46a1-b753-4f561fd7d451 872c532a-f3d4-4cb5-8ebd-09ff6c9d5cdd 2 228388516 228388516 T A SNP CCL20 NM_004591.1 human genbank 54_36p +1 validated missense c.179 p.I60N 0.996 PatternScan_SMALL_CYTOKINES_CC,HMMPfam_IL8,HMMSmart_SM00199,superfamily_Interleukin 8-like chemokines PatternScan_SMALL_CYTOKINES_CC,HMMPfam_IL8,HMMSmart_SM00199,superfamily_Interleukin 8-like chemokines - no_errors 73 3 3.95 42 35 45.45 NA NA NA +ACPL2 0 genome.wustl.edu 37 3 141011154 141011154 + Missense_Mutation SNP T T G TCGA-AB-2923-03A-01W-0745-08 TCGA-AB-2923-11A-01W-0745-08 T T T G T T Verified Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq 1 dbGAP Illumina HiSeq 26973c94-f1c1-46a1-b753-4f561fd7d451 872c532a-f3d4-4cb5-8ebd-09ff6c9d5cdd 3 142493844 142493844 T G SNP ACPL2 NM_001037172.1 human genbank 54_36p +1 validated missense c.550 p.Y184D 1.000 HMMPfam_Acid_phosphat_A,superfamily_Phosphoglycerate mutase-like HMMPfam_Acid_phosphat_A,superfamily_Phosphoglycerate mutase-like - no_errors 82 0 0.00 40 25 38.46 NA NA NA +TET2 0 genome.wustl.edu 37 4 106156747 106156747 + Nonsense_Mutation SNP C C T TCGA-AB-2923-03A-01W-0745-08 TCGA-AB-2923-11A-01W-0745-08 C C C T C C Verified Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq 1 dbGAP Illumina HiSeq 26973c94-f1c1-46a1-b753-4f561fd7d451 872c532a-f3d4-4cb5-8ebd-09ff6c9d5cdd 4 106376196 106376196 C T SNP TET2 NM_017628.1 human genbank 54_36p +1 validated nonsense c.1648 p.R550* 0.001 NULL NULL - no_errors 118 4 3.25 71 49 40.50 NA NA NA +MEGF10 0 genome.wustl.edu 37 5 126674892 126674892 + Missense_Mutation SNP G G T TCGA-AB-2923-03A-01W-0745-08 TCGA-AB-2923-11A-01W-0745-08 G G G T G G Verified Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq 1 dbGAP Illumina HiSeq 26973c94-f1c1-46a1-b753-4f561fd7d451 872c532a-f3d4-4cb5-8ebd-09ff6c9d5cdd 5 126702791 126702791 G T SNP MEGF10 NM_032446.2 human genbank 54_36p +1 validated missense c.197 p.W66L 1.000 HMMPfam_EMI HMMPfam_Laminin_EGF,HMMSmart_SM00180,HMMSmart_SM00181,superfamily_Plant inhibitors of proteinases and amylases,HMMPfam_EMI,PatternScan_EGF_1,PatternScan_EGF_2,HMMPfam_EGF_2,superfamily_EGF/Laminin - no_errors 169 8 4.52 101 66 39.29 NA NA NA +CAGE1 0 genome.wustl.edu 37 6 7379008 7379008 + Missense_Mutation SNP G G T TCGA-AB-2923-03A-01W-0745-08 TCGA-AB-2923-11A-01W-0745-08 G G G T G G Verified Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq 1 dbGAP Illumina HiSeq 26973c94-f1c1-46a1-b753-4f561fd7d451 872c532a-f3d4-4cb5-8ebd-09ff6c9d5cdd 6 7324007 7324007 G T SNP CAGE1 NM_205864.2 human genbank 54_36p -1 validated missense c.121 p.Q41K 0.001 NULL NULL - no_errors 91 4 4.21 70 57 44.53 NA NA NA +PGBD1 0 genome.wustl.edu 37 6 28269676 28269676 + Missense_Mutation SNP A A G TCGA-AB-2923-03A-01W-0745-08 TCGA-AB-2923-11A-01W-0745-08 A A A G A A Verified Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq 1 dbGAP Illumina HiSeq 26973c94-f1c1-46a1-b753-4f561fd7d451 872c532a-f3d4-4cb5-8ebd-09ff6c9d5cdd 6 28377655 28377655 A G SNP PGBD1 NM_032507.2 human genbank 54_36p +1 reviewed missense c.2045 p.N682S 0.978 NULL HMMPfam_SCAN,HMMSmart_SCAN - no_errors 126 4 3.08 65 74 53.24 NA NA NA +RPS10 0 genome.wustl.edu 37 6 34392507 34392507 + Silent SNP C C T TCGA-AB-2923-03A-01W-0745-08 TCGA-AB-2923-11A-01W-0745-08 C C C T C C Verified Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq 1 dbGAP Illumina HiSeq 26973c94-f1c1-46a1-b753-4f561fd7d451 872c532a-f3d4-4cb5-8ebd-09ff6c9d5cdd 6 34500485 34500485 C T SNP RPS10 NM_001014.3 human genbank 54_36p -1 reviewed silent c.261 p.P87 0.757 HMMPfam_S10_plectin HMMPfam_S10_plectin - no_errors 40 0 0.00 28 24 46.15 NA NA NA +DST 0 genome.wustl.edu 37 6 56480893 56480893 + Missense_Mutation SNP C C T TCGA-AB-2923-03A-01W-0745-08 TCGA-AB-2923-11A-01W-0745-08 C C C T C C Verified Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq 1 dbGAP Illumina HiSeq 26973c94-f1c1-46a1-b753-4f561fd7d451 872c532a-f3d4-4cb5-8ebd-09ff6c9d5cdd 6 56588852 56588852 C T SNP DST NM_001723.1 human genbank 54_36p -1 reviewed missense c.7372 p.E2458K 1.000 HMMSmart_PLEC,superfamily_SSF75399 HMMPfam_Plectin,HMMSmart_PLEC,HMMPfam_Spectrin,HMMSmart_SPEC,superfamily_Spectrin,superfamily_SSF75399 - no_errors 65 3 4.29 43 26 37.14 NA NA NA +FAM82B 0 genome.wustl.edu 37 8 87519294 87519294 + Silent SNP A A G TCGA-AB-2923-03A-01W-0745-08 TCGA-AB-2923-11A-01W-0745-08 A A A G A A Verified Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq 1 dbGAP Illumina HiSeq 26973c94-f1c1-46a1-b753-4f561fd7d451 872c532a-f3d4-4cb5-8ebd-09ff6c9d5cdd 8 87588410 87588410 A G SNP FAM82B NM_016033.2 human genbank 54_36p -1 validated silent c.177 p.A59 0.989 NULL superfamily_Prenyl_trans - no_errors 87 1 1.14 43 46 51.69 NA NA NA +PKD2L1 0 genome.wustl.edu 37 10 102048168 102048168 + Silent SNP C C T TCGA-AB-2923-03A-01W-0745-08 TCGA-AB-2923-11A-01W-0745-08 C C C T C C Verified Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq 1 dbGAP Illumina HiSeq 26973c94-f1c1-46a1-b753-4f561fd7d451 872c532a-f3d4-4cb5-8ebd-09ff6c9d5cdd 10 102038158 102038158 C T SNP PKD2L1 NM_016112.2 human genbank 54_36p -1 reviewed silent c.2403 p.T801 0.000 NULL HMMPfam_PKD_channel,superfamily_Voltage-gated potassium channels - no_errors 79 3 3.66 50 41 45.05 NA NA NA +OR5W2 0 genome.wustl.edu 37 11 55681628 55681628 + Missense_Mutation SNP A A T TCGA-AB-2923-03A-01W-0745-08 TCGA-AB-2923-11A-01W-0745-08 A A A T A A Verified Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq 1 dbGAP Illumina HiSeq 26973c94-f1c1-46a1-b753-4f561fd7d451 872c532a-f3d4-4cb5-8ebd-09ff6c9d5cdd 11 55438204 55438204 A T SNP OR5W2 NM_001001960.1 human genbank 54_36p -1 provisional missense c.431 p.L144H 0.011 HMMPfam_7tm_1,superfamily_SSF81321 HMMPfam_7tm_1,PatternScan_G_PROTEIN_RECEP_F1_1,superfamily_SSF81321 - no_errors 100 4 3.85 42 49 53.85 NA NA NA +STRC 0 genome.wustl.edu 37 15 43910179 43910179 + Missense_Mutation SNP G G A TCGA-AB-2923-03A-01W-0745-08 TCGA-AB-2923-11A-01W-0745-08 G G G A G G Verified Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq 1 dbGAP Illumina HiSeq 26973c94-f1c1-46a1-b753-4f561fd7d451 872c532a-f3d4-4cb5-8ebd-09ff6c9d5cdd 15 41697471 41697471 G A SNP STRC NM_153700.2 human genbank 54_36p -1 reviewed missense c.440 p.A147V 0.996 NULL NULL - no_errors 61 0 0.00 45 14 23.73 NA NA NA +PPL 0 genome.wustl.edu 37 16 4935049 4935049 + Missense_Mutation SNP G G A TCGA-AB-2923-03A-01W-0745-08 TCGA-AB-2923-11A-01W-0745-08 G G G A G G Verified Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq 1 dbGAP Illumina HiSeq 26973c94-f1c1-46a1-b753-4f561fd7d451 872c532a-f3d4-4cb5-8ebd-09ff6c9d5cdd 16 4875050 4875050 G A SNP PPL NM_002705.4 human genbank 54_36p -1 reviewed missense c.3607 p.R1203W 0.992 NULL HMMPfam_Plectin,HMMSmart_SM00250,HMMSmart_SM00150,superfamily_Spectrin repeat,superfamily_Plakin repeat - no_errors 42 1 2.33 12 9 42.86 NA NA NA +TMEM104 0 genome.wustl.edu 37 17 72791745 72791745 + Nonsense_Mutation SNP C C T TCGA-AB-2923-03A-01W-0745-08 TCGA-AB-2923-11A-01W-0745-08 C C C T C C Verified Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq 1 dbGAP Illumina HiSeq 26973c94-f1c1-46a1-b753-4f561fd7d451 872c532a-f3d4-4cb5-8ebd-09ff6c9d5cdd 17 70303340 70303340 C T SNP TMEM104 NM_017728.3 human genbank 54_36p +1 validated nonsense c.610 p.R204* 0.969 NULL HMMPfam_Aa_trans - no_errors 32 1 2.94 23 26 53.06 NA NA NA +ZNF420 0 genome.wustl.edu 37 19 37618611 37618611 + Nonsense_Mutation SNP C C T TCGA-AB-2923-03A-01W-0745-08 TCGA-AB-2923-11A-01W-0745-08 C C C T C C Verified Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq 1 dbGAP Illumina HiSeq 26973c94-f1c1-46a1-b753-4f561fd7d451 872c532a-f3d4-4cb5-8ebd-09ff6c9d5cdd 19 42310451 42310451 C T SNP ZNF420 NM_144689.3 human genbank 54_36p +1 provisional nonsense c.718 p.R240* 0.002 HMMPfam_zf-C2H2,PatternScan_ZINC_FINGER_C2H2_1,HMMSmart_ZnF_C2H2,superfamily_SSF57667 HMMPfam_KRAB,HMMSmart_KRAB,superfamily_Krueppel-associated_box,HMMPfam_zf-C2H2,PatternScan_ZINC_FINGER_C2H2_1,HMMSmart_ZnF_C2H2,superfamily_SSF57667 - no_errors 73 3 3.95 32 36 52.94 NA NA NA +FCGBP 0 genome.wustl.edu 37 19 40384036 40384036 + Missense_Mutation SNP C C T TCGA-AB-2923-03A-01W-0745-08 TCGA-AB-2923-11A-01W-0745-08 C C C T C C Verified Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq 1 dbGAP Illumina HiSeq 26973c94-f1c1-46a1-b753-4f561fd7d451 872c532a-f3d4-4cb5-8ebd-09ff6c9d5cdd 19 45075876 45075876 C T SNP FCGBP NM_003890.2 human genbank 54_36p -1 validated missense c.9574 p.A3192T 0.014 superfamily_Cysrich_TIL,HMMPfam_TIL HMMSmart_VWC,HMMPfam_VWD,HMMSmart_VWD,superfamily_Cysrich_TIL,HMMPfam_TIL_assoc,HMMSmart_FOLN,HMMPfam_C8,HMMPfam_TIL - no_errors 29 1 3.33 28 17 37.78 NA NA NA +IGLV3-22 0 genome.wustl.edu 37 22 23047140 23047140 + Missense_Mutation SNP C C G TCGA-AB-2923-03A-01W-0745-08 TCGA-AB-2923-11A-01W-0745-08 C C C G C C Verified Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq 1 dbGAP Illumina HiSeq 26973c94-f1c1-46a1-b753-4f561fd7d451 872c532a-f3d4-4cb5-8ebd-09ff6c9d5cdd 22 21377140 21377140 C G SNP IGLV3-22 ENST00000390307 human ensembl 54_36p +1 known missense c.178 p.Q60E 0.659 HMMSmart_SM00406,HMMSmart_SM00409,HMMPfam_V-set,superfamily_Immunoglobulin HMMSmart_SM00406,HMMSmart_SM00409,HMMPfam_V-set,superfamily_Immunoglobulin - no_stop_codon 50 1 1.85 37 27 42.19 NA NA NA +TET2 0 genome.wustl.edu 37 4 106157969 106157970 + Frame_Shift_Ins INS - - A TCGA-AB-2923-03A-01W-0745-08 TCGA-AB-2923-11A-01W-0745-08 - - - A - - Verified Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq 1 dbGAP Illumina HiSeq 26973c94-f1c1-46a1-b753-4f561fd7d451 872c532a-f3d4-4cb5-8ebd-09ff6c9d5cdd 4 106377418 106377419 - A INS TET2 NM_017628.1 human genbank 54_36p +1 validated frame_shift_ins c.2870_2871 p.Q958fs 1.000:0.960 NULL NULL - no_errors 71 1 1.39 31 34 52.31 NA NA NA +MBOAT1 0 genome.wustl.edu 37 6 20102621 20102621 + Frame_Shift_Del DEL T T - TCGA-AB-2923-03A-01W-0745-08 TCGA-AB-2923-11A-01W-0745-08 T T T - T T Verified Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq 1 dbGAP Illumina HiSeq 26973c94-f1c1-46a1-b753-4f561fd7d451 872c532a-f3d4-4cb5-8ebd-09ff6c9d5cdd 6 20210600 20210600 T - DEL MBOAT1 NM_001080480.1 human genbank 54_36p -1 provisional frame_shift_del c.1384 p.I462fs 0.993 NULL HMMPfam_MBOAT - no_errors 80 4 4.71 38 31 42.47 NA NA NA +SLC45A2 0 genome.wustl.edu 37 5 33984527 33984527 + Silent SNP C C T TCGA-AB-2924-03A-01W-0745-08 TCGA-AB-2924-11A-01W-0745-08 C C C T C C Verified Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq 1 dbGAP Illumina HiSeq 16d51cf8-f922-4c2b-ac3f-744064cb04f4 207d9855-296b-4155-9e3a-6011d6102505 5 34020284 34020284 C T SNP SLC45A2 NM_016180.2 human genbank 54_36p -1 reviewed silent c.162 p.A54 0.858 superfamily_MFS general substrate transporter superfamily_MFS general substrate transporter - no_errors 139 11 7.28 39 34 45.95 NA NA NA +PPAP2A 0 genome.wustl.edu 37 5 54721756 54721756 + Missense_Mutation SNP A A C TCGA-AB-2924-03A-01W-0745-08 TCGA-AB-2924-11A-01W-0745-08 A A A C A A Verified Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq 1 dbGAP Illumina HiSeq 16d51cf8-f922-4c2b-ac3f-744064cb04f4 207d9855-296b-4155-9e3a-6011d6102505 5 54757513 54757513 A C SNP PPAP2A NM_176895.2 human genbank 54_36p -1 reviewed missense c.664 p.Y222D 1.000 HMMPfam_PAP2,HMMSmart_SM00014,superfamily_Acid phosphatase/Vanadium-dependent haloperoxidase HMMPfam_PAP2,HMMSmart_SM00014,superfamily_Acid phosphatase/Vanadium-dependent haloperoxidase - no_errors 260 9 3.33 61 68 51.91 2 6 75.00 +DMRT3 0 genome.wustl.edu 37 9 990602 990602 + Missense_Mutation SNP C C G TCGA-AB-2924-03A-01W-0745-08 TCGA-AB-2924-11A-01W-0745-08 C C C G C C Verified Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq 1 dbGAP Illumina HiSeq 16d51cf8-f922-4c2b-ac3f-744064cb04f4 207d9855-296b-4155-9e3a-6011d6102505 9 980602 980602 C G SNP DMRT3 NM_021240.2 human genbank 54_36p +1 validated missense c.1016 p.T339R 0.998 NULL HMMPfam_DM,HMMSmart_DM,PatternScan_DM_1,superfamily_DM_DNA_bd,HMMPfam_DMA - no_errors 130 8 5.80 21 10 32.26 NA NA NA +FLT3 0 genome.wustl.edu 37 13 28592642 28592642 + Missense_Mutation SNP C C A rs121913488 TCGA-AB-2924-03A-01W-0745-08 TCGA-AB-2924-11A-01W-0745-08 C C C A C C Verified Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq 1 dbGAP Illumina HiSeq 16d51cf8-f922-4c2b-ac3f-744064cb04f4 207d9855-296b-4155-9e3a-6011d6102505 13 27490642 27490642 C A SNP FLT3 NM_004119.2 human genbank 54_36p -1 reviewed missense c.2503 p.D835Y 1.000 HMMPfam_Pkinase_Tyr,HMMSmart_TyrKc,superfamily_Kinase_like HMMPfam_Pkinase_Tyr,HMMSmart_TyrKc,PatternScan_RECEPTOR_TYR_KIN_III,PatternScan_PROTEIN_KINASE_TYR,superfamily_Kinase_like,HMMPfam_ig,PatternScan_PROTEIN_KINASE_ATP,superfamily_SSF48726 - no_errors 96 15 13.51 34 22 38.60 311 249 44.46 +DIO2 0 genome.wustl.edu 37 14 80669394 80669394 + Missense_Mutation SNP C C T TCGA-AB-2924-03A-01W-0745-08 TCGA-AB-2924-11A-01W-0745-08 C C C T C C Verified Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq 1 dbGAP Illumina HiSeq 16d51cf8-f922-4c2b-ac3f-744064cb04f4 207d9855-296b-4155-9e3a-6011d6102505 14 79739147 79739147 C T SNP DIO2 NM_001007023.4 human genbank 54_36p -1 reviewed missense c.568 p.A190T 1.000 HMMPfam_T4_deiodinase HMMPfam_T4_deiodinase - pseudogene 113 13 10.24 30 32 50.79 1 0 0.00 +BCMO1 0 genome.wustl.edu 37 16 81293292 81293292 + Missense_Mutation SNP T T G TCGA-AB-2924-03A-01W-0745-08 TCGA-AB-2924-11A-01W-0745-08 T T T G T T Verified Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq 1 dbGAP Illumina HiSeq 16d51cf8-f922-4c2b-ac3f-744064cb04f4 207d9855-296b-4155-9e3a-6011d6102505 16 79850793 79850793 T G SNP BCMO1 NM_017429.2 human genbank 54_36p +1 reviewed missense c.205 p.Y69D 0.938 HMMPfam_RPE65 HMMPfam_RPE65 - no_errors 191 23 10.75 30 28 47.46 NA NA NA +SNORD3A 0 genome.wustl.edu 37 17 19091431 19091431 + RNA SNP C C T TCGA-AB-2924-03A-01W-0745-08 TCGA-AB-2924-11A-01W-0745-08 C C C T C C Verified Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq 1 dbGAP Illumina HiSeq 16d51cf8-f922-4c2b-ac3f-744064cb04f4 207d9855-296b-4155-9e3a-6011d6102505 17 19032024 19032024 C T SNP SNORD3A ENST00000365494 human ensembl 54_36p +1 known rna NULL NULL 1.000 - - - no_errors 379 21 5.25 76 14 15.38 50 7 12.28 +KRT27 0 genome.wustl.edu 37 17 38938537 38938537 + Missense_Mutation SNP G G A TCGA-AB-2924-03A-01W-0745-08 TCGA-AB-2924-11A-01W-0745-08 G G G A G G Verified Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq 1 dbGAP Illumina HiSeq 16d51cf8-f922-4c2b-ac3f-744064cb04f4 207d9855-296b-4155-9e3a-6011d6102505 17 36192063 36192063 G A SNP KRT27 NM_181537.3 human genbank 54_36p -1 validated missense c.209 p.A70V 0.000 NULL HMMPfam_Filament - no_errors 148 9 5.70 35 35 50.00 NA NA NA +PHLPP1 0 genome.wustl.edu 37 18 60497429 60497429 + Missense_Mutation SNP G G C TCGA-AB-2924-03A-01W-0745-08 TCGA-AB-2924-11A-01W-0745-08 G G G C G G Verified Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq 1 dbGAP Illumina HiSeq 16d51cf8-f922-4c2b-ac3f-744064cb04f4 207d9855-296b-4155-9e3a-6011d6102505 18 58648409 58648409 G C SNP PHLPP NM_194449.1 human genbank 54_36p +1 validated missense c.202 p.G68R 1.000 HMMPfam_PH HMMPfam_LRR_1,HMMPfam_PH,HMMSmart_SM00332,superfamily_Protein serine/threonine phosphatase 2C catalytic domain,HMMSmart_SM00369,HMMPfam_PP2C,HMMSmart_SM00364,superfamily_L domain-like - no_errors 331 24 6.76 75 45 36.59 16 20 55.56 +MUC16 0 genome.wustl.edu 37 19 9084715 9084715 + Missense_Mutation SNP C C T TCGA-AB-2924-03A-01W-0745-08 TCGA-AB-2924-11A-01W-0745-08 C C C T C C Verified Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq 1 dbGAP Illumina HiSeq 16d51cf8-f922-4c2b-ac3f-744064cb04f4 207d9855-296b-4155-9e3a-6011d6102505 19 8945715 8945715 C T SNP MUC16 NM_024690.2 human genbank 54_36p -1 validated missense c.7100 p.S2367N 0.000 NULL HMMPfam_SEA,HMMSmart_SM00200,PatternScan_ATPASE_ALPHA_BETA,superfamily_SEA domain - no_errors 530 42 7.34 144 96 40.00 NA NA NA +NPM1 0 genome.wustl.edu 37 5 170837546 170837547 + Frame_Shift_Ins INS - - TGTA TCGA-AB-2924-03A-01W-0745-08 TCGA-AB-2924-11A-01W-0745-08 - - - TGTA - - Verified Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq 1 dbGAP Illumina HiSeq 16d51cf8-f922-4c2b-ac3f-744064cb04f4 207d9855-296b-4155-9e3a-6011d6102505 5 170770151 170770152 - TGTA INS NPM1 NM_002520.1 human genbank 54_36p +1 validated frame_shift_ins c.862_863 p.W288fs 1.000:1.000 NULL HMMPfam_Nucleoplasmin,superfamily_Nucleoplasmin-like core domain - no_errors NA NA NA NA NA NA NA NA NA +VWCE 0 genome.wustl.edu 37 11 61045882 61045882 + Frame_Shift_Del DEL G G - TCGA-AB-2924-03A-01W-0745-08 TCGA-AB-2924-11A-01W-0745-08 G G G - G G Verified Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq 1 dbGAP Illumina HiSeq 16d51cf8-f922-4c2b-ac3f-744064cb04f4 207d9855-296b-4155-9e3a-6011d6102505 11 60802458 60802458 G - DEL VWCE NM_152718.2 human genbank 54_36p -1 validated frame_shift_del c.1391 p.V465fs 1.000 HMMPfam_VWC,HMMSmart_SM00214,HMMSmart_SM00215 PatternScan_ASX_HYDROXYL,HMMPfam_VWC,HMMSmart_SM00214,PatternScan_VWFC_1,HMMSmart_SM00179,HMMSmart_SM00181,HMMSmart_SM00215,PatternScan_EGF_1,PatternScan_EGF_2,HMMPfam_EGF_CA,HMMPfam_EGF_2,PatternScan_EGF_CA,PatternScan_C_TYPE_LECTIN_1,superfamily_EGF/Laminin - no_errors 251 0 0.00 75 0 0.00 1 0 0.00 +KPRP 0 genome.wustl.edu 37 1 152733801 152733801 + Missense_Mutation SNP T T G TCGA-AB-2925-03A-01W-0732-08 TCGA-AB-2925-11A-01W-0732-08 T T T G T T Verified Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq 1 dbGAP Illumina HiSeq daa3c116-e029-483c-b07b-201a76a9519b 1ce4cb83-af5a-440a-a61a-b4b9d1fd81b6 1 151000425 151000425 T G SNP KPRP NM_001025231.1 human genbank 54_36p +1 provisional missense c.1737 p.F579L 0.976 NULL NULL - no_errors 47 0 0.00 76 40 34.48 NA NA NA +CFHR2 0 genome.wustl.edu 37 1 196918613 196918613 + Missense_Mutation SNP C C G TCGA-AB-2925-03A-01W-0732-08 TCGA-AB-2925-11A-01W-0732-08 C C C G C C Verified Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq 1 dbGAP Illumina HiSeq daa3c116-e029-483c-b07b-201a76a9519b 1ce4cb83-af5a-440a-a61a-b4b9d1fd81b6 1 195185236 195185236 C G SNP CFHR2 NM_005666.2 human genbank 54_36p +1 validated missense c.87 p.N29K 0.059 HMMPfam_Sushi,HMMSmart_SM00032,superfamily_Complement control module/SCR domain HMMPfam_Sushi,HMMSmart_SM00032,superfamily_Complement control module/SCR domain - no_errors 107 3 2.73 97 46 32.17 0 0 0.00 +DNMT3A 0 genome.wustl.edu 37 2 25457242 25457242 + Missense_Mutation SNP C C T TCGA-AB-2925-03A-01W-0732-08 TCGA-AB-2925-11A-01W-0732-08 C C C T C C Verified Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq 1 dbGAP Illumina HiSeq daa3c116-e029-483c-b07b-201a76a9519b 1ce4cb83-af5a-440a-a61a-b4b9d1fd81b6 2 25310746 25310746 C T SNP DNMT3A NM_022552.3 human genbank 54_36p -1 reviewed missense c.2645 p.R882H 1.000 superfamily_S-adenosyl-L-methionine-dependent methyltransferases HMMPfam_PWWP,HMMSmart_SM00293,HMMPfam_DNA_methylase,superfamily_FYVE/PHD zinc finger,PatternScan_C5_MTASE_1,superfamily_S-adenosyl-L-methionine-dependent methyltransferases,superfamily_Tudor/PWWP/MBT - no_errors 41 1 2.38 64 47 42.34 14 20 58.82 +BMP10 0 genome.wustl.edu 37 2 69092806 69092806 + Missense_Mutation SNP A A T TCGA-AB-2925-03A-01W-0732-08 TCGA-AB-2925-11A-01W-0732-08 A A A T A A Verified Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq 1 dbGAP Illumina HiSeq daa3c116-e029-483c-b07b-201a76a9519b 1ce4cb83-af5a-440a-a61a-b4b9d1fd81b6 2 68946310 68946310 A T SNP BMP10 NM_014482.1 human genbank 54_36p -1 reviewed missense c.1232 p.F411Y 1.000 HMMPfam_TGF_beta,HMMSmart_TGFB,superfamily_SSF57501 HMMPfam_TGFb_propeptide,HMMPfam_TGF_beta,HMMSmart_TGFB,PatternScan_TGF_BETA_1,superfamily_SSF57501 - no_errors 91 1 1.09 101 62 38.04 NA NA NA +TTN 0 genome.wustl.edu 37 2 179516225 179516225 + Missense_Mutation SNP C C T TCGA-AB-2925-03A-01W-0732-08 TCGA-AB-2925-11A-01W-0732-08 C C C T C C Verified Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq 1 dbGAP Illumina HiSeq daa3c116-e029-483c-b07b-201a76a9519b 1ce4cb83-af5a-440a-a61a-b4b9d1fd81b6 2 179224470 179224470 C T SNP TTN ENST00000342992 human ensembl 54_36p -1 known missense c.2653 p.V885M 0.999 superfamily_DH-domain,HMMPfam_PPAK superfamily_DH-domain,HMMSmart_IGc2,HMMSmart_IG,HMMPfam_fn3,HMMSmart_FN3,HMMPfam_PPAK,superfamily_FN_III-like,superfamily_ConA_like_lec_gl,superfamily_Man6php_recept,HMMPfam_I-set,HMMPfam_ig,PatternScan_FGGY_KINASES_1,superfamily_SSF48726 - no_stop_codon 54 1 1.82 38 27 41.54 NA NA NA +GATA2 0 genome.wustl.edu 37 3 128200151 128200151 + Missense_Mutation SNP G G A TCGA-AB-2925-03A-01W-0732-08 TCGA-AB-2925-11A-01W-0732-08 G G G A G G Verified Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq 1 dbGAP Illumina HiSeq daa3c116-e029-483c-b07b-201a76a9519b 1ce4cb83-af5a-440a-a61a-b4b9d1fd81b6 3 129682841 129682841 G A SNP GATA2 NM_032638.1 human genbank 54_36p -1 reviewed missense c.1154 p.P385L 1.000 HMMSmart_ZnF_GATA,superfamily_SSF57716 HMMPfam_GATA,HMMSmart_ZnF_GATA,PatternScan_GATA_ZN_FINGER_1,superfamily_SSF57716 - no_errors 54 0 0.00 54 41 43.16 11 93 89.42 +SLC27A6 0 genome.wustl.edu 37 5 128351606 128351606 + Missense_Mutation SNP G G A TCGA-AB-2925-03A-01W-0732-08 TCGA-AB-2925-11A-01W-0732-08 G G G A G G Verified Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq 1 dbGAP Illumina HiSeq daa3c116-e029-483c-b07b-201a76a9519b 1ce4cb83-af5a-440a-a61a-b4b9d1fd81b6 5 128379505 128379505 G A SNP SLC27A6 NM_001017372.1 human genbank 54_36p +1 reviewed missense c.998 p.R333H 0.465 HMMPfam_AMP-binding,superfamily_SSF56801 HMMPfam_AMP-binding,PatternScan_AMP_BINDING,superfamily_SSF56801 - no_errors 171 3 1.71 89 56 38.62 0 2 100.00 +GABBR1 0 genome.wustl.edu 37 6 29581178 29581178 + Missense_Mutation SNP C C A TCGA-AB-2925-03A-01W-0732-08 TCGA-AB-2925-11A-01W-0732-08 C C C A C C Verified Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq 1 dbGAP Illumina HiSeq daa3c116-e029-483c-b07b-201a76a9519b 1ce4cb83-af5a-440a-a61a-b4b9d1fd81b6 6 29689157 29689157 C A SNP GABBR1 NM_001470.2 human genbank 54_36p -1 reviewed missense c.1408 p.A470S 1.000 HMMPfam_ANF_receptor,superfamily_Periplasmic binding protein-like I HMMPfam_Sushi,HMMSmart_SM00032,HMMPfam_ANF_receptor,superfamily_Complement control module/SCR domain,HMMPfam_7tm_3,superfamily_Periplasmic binding protein-like I - no_errors 82 2 2.38 100 75 42.86 35 39 52.70 +HECW1 0 genome.wustl.edu 37 7 43601458 43601458 + Missense_Mutation SNP C C T TCGA-AB-2925-03A-01W-0732-08 TCGA-AB-2925-11A-01W-0732-08 C C C T C C Verified Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq 1 dbGAP Illumina HiSeq daa3c116-e029-483c-b07b-201a76a9519b 1ce4cb83-af5a-440a-a61a-b4b9d1fd81b6 7 43567983 43567983 C T SNP HECW1 NM_015052.3 human genbank 54_36p +1 validated missense c.4754 p.S1585L 0.985 HMMPfam_HECT,HMMSmart_HECTc,superfamily_HECT HMMPfam_C2,HMMSmart_C2,HMMPfam_HECT,HMMSmart_HECTc,superfamily_HECT,HMMPfam_WW,HMMSmart_WW,PatternScan_WW_DOMAIN_1,superfamily_WW_Rsp5_WWP,superfamily_C2_CaLB - no_errors 61 2 3.12 87 53 37.86 NA NA NA +GRM3 0 genome.wustl.edu 37 7 86415970 86415970 + Missense_Mutation SNP G G A TCGA-AB-2925-03A-01W-0732-08 TCGA-AB-2925-11A-01W-0732-08 G G G A G G Verified Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq 1 dbGAP Illumina HiSeq daa3c116-e029-483c-b07b-201a76a9519b 1ce4cb83-af5a-440a-a61a-b4b9d1fd81b6 7 86253906 86253906 G A SNP GRM3 NM_000840.2 human genbank 54_36p +1 reviewed missense c.862 p.A288T 0.999 HMMPfam_ANF_receptor,superfamily_Periplasmic binding protein-like I HMMPfam_ANF_receptor,HMMPfam_NCD3G,HMMPfam_7tm_3,PatternScan_G_PROTEIN_RECEP_F3_1,PatternScan_G_PROTEIN_RECEP_F3_2,PatternScan_G_PROTEIN_RECEP_F3_3,superfamily_Periplasmic binding protein-like I - no_errors 7 0 0.00 13 19 59.38 NA NA NA +CSMD1 0 genome.wustl.edu 37 8 3081337 3081337 + Missense_Mutation SNP G G T TCGA-AB-2925-03A-01W-0732-08 TCGA-AB-2925-11A-01W-0732-08 G G G T G G Verified Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq 1 dbGAP Illumina HiSeq daa3c116-e029-483c-b07b-201a76a9519b 1ce4cb83-af5a-440a-a61a-b4b9d1fd81b6 8 3068744 3068744 G T SNP CSMD1 NM_033225.4 human genbank 54_36p -1 validated missense c.4402 p.L1468I 1.000 NULL HMMPfam_Sushi,HMMSmart_SM00032,HMMPfam_CUB,HMMSmart_SM00042,superfamily_Spermadhesin CUB domain,superfamily_Complement control module/SCR domain - pseudogene:no_stop_codon:bad_bp_length_for_coding_region 74 2 2.63 37 33 47.14 NA NA NA +CACNA1B 0 genome.wustl.edu 37 9 141015927 141015927 + Missense_Mutation SNP G G T TCGA-AB-2925-03A-01W-0732-08 TCGA-AB-2925-11A-01W-0732-08 G G G T G G Verified Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq 1 dbGAP Illumina HiSeq daa3c116-e029-483c-b07b-201a76a9519b 1ce4cb83-af5a-440a-a61a-b4b9d1fd81b6 9 140135748 140135748 G T SNP CACNA1B NM_000718.2 human genbank 54_36p +1 validated missense c.6496 p.G2166C 1.000 NULL HMMPfam_Ion_trans,HMMPfam_Ca_chan_IQ,superfamily_Voltage-gated potassium channels - no_errors 10 0 0.00 9 26 74.29 NA NA NA +RFC3 0 genome.wustl.edu 37 13 34404083 34404083 + Missense_Mutation SNP A A C TCGA-AB-2925-03A-01W-0732-08 TCGA-AB-2925-11A-01W-0732-08 A A A C A A Verified Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq 1 dbGAP Illumina HiSeq daa3c116-e029-483c-b07b-201a76a9519b 1ce4cb83-af5a-440a-a61a-b4b9d1fd81b6 13 33302083 33302083 A C SNP RFC3 NM_002915.3 human genbank 54_36p +1 reviewed missense c.502 p.T168P 1.000 HMMSmart_SM00382,superfamily_P-loop containing nucleoside triphosphate hydrolases HMMSmart_SM00382,superfamily_DNA polymerase III clamp loader subunits C-terminal domain,HMMPfam_RFC-E_C,superfamily_P-loop containing nucleoside triphosphate hydrolases - no_errors 60 0 0.00 64 22 25.58 43 3 6.52 +FAM154B 0 genome.wustl.edu 37 15 82574525 82574525 + Missense_Mutation SNP C C T TCGA-AB-2925-03A-01W-0732-08 TCGA-AB-2925-11A-01W-0732-08 C C C T C C Verified Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq 1 dbGAP Illumina HiSeq daa3c116-e029-483c-b07b-201a76a9519b 1ce4cb83-af5a-440a-a61a-b4b9d1fd81b6 15 80361580 80361580 C T SNP FAM154B NM_001008226.1 human genbank 54_36p +1 predicted missense c.319 p.P107S 0.990 NULL NULL - no_errors 58 1 1.67 57 46 44.66 NA NA NA +NPM1 0 genome.wustl.edu 37 5 170837543 170837544 + Frame_Shift_Ins INS - - TCTG TCGA-AB-2925-03A-01W-0732-08 TCGA-AB-2925-11A-01W-0732-08 - - - TCTG - - Verified Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq 1 dbGAP Illumina HiSeq daa3c116-e029-483c-b07b-201a76a9519b 1ce4cb83-af5a-440a-a61a-b4b9d1fd81b6 5 170770148 170770149 - TCTG INS NPM1 NM_002520.1 human genbank 54_36p +1 validated frame_shift_ins c.859_860 p.W288fs 1.000:1.000 NULL HMMPfam_Nucleoplasmin,superfamily_Nucleoplasmin-like core domain - no_errors NA NA NA NA NA NA NA NA NA +FLT3 0 genome.wustl.edu 37 13 28608255 28608256 + In_Frame_Ins INS - - ATCATATTCATATTCTCTGAAATCAACGTAGAAGTACTCATT TCGA-AB-2925-03A-01W-0732-08 TCGA-AB-2925-11A-01W-0732-08 - - - ATCATATTCATATTCTCTGAAATCAACGTAGAAGTACTCATT - - Verified Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq 1 dbGAP Illumina HiSeq daa3c116-e029-483c-b07b-201a76a9519b 1ce4cb83-af5a-440a-a61a-b4b9d1fd81b6 13 27506255 27506256 - ATCATATTCATATTCTCTGAAATCAACGTAGAAGTACTCATT INS FLT3 NM_004119.2 human genbank 54_36p -1 reviewed in_frame_ins c.1801_1800 p.600in_frame_insNEYFYVDFREYEYD 1.000:0.998 superfamily_Kinase_like HMMPfam_Pkinase_Tyr,HMMSmart_TyrKc,PatternScan_RECEPTOR_TYR_KIN_III,PatternScan_PROTEIN_KINASE_TYR,superfamily_Kinase_like,HMMPfam_ig,PatternScan_PROTEIN_KINASE_ATP,superfamily_SSF48726 - no_errors NA NA NA NA NA NA NA NA NA +DDX53 0 genome.wustl.edu 37 X 23018296 23018296 + Missense_Mutation SNP C C T TCGA-AB-2926-03A-01W-0732-08 TCGA-AB-2926-11A-01W-0761-09 C C C T C C Verified Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq 1 dbGAP Illumina HiSeq 890ea799-3156-40c3-839c-0c60179006d7 04ea59bd-4188-4b75-ae4b-4f8f3665db56 X 22928217 22928217 C T SNP DDX53 NM_182699.2 human genbank 54_36p +1 validated missense c.122 p.P41L 0.001 superfamily_SSF54791 PatternScan_DEAD_ATP_HELICASE,HMMPfam_Helicase_C,HMMSmart_HELICc,HMMSmart_KH,HMMPfam_DEAD,HMMSmart_DEXDc,HMMPfam_KH_1,superfamily_SSF52540,superfamily_SSF54791 - no_errors 74 5 6.33 40 35 46.67 NA NA NA +RBBP4 0 genome.wustl.edu 37 1 33138072 33138072 + Missense_Mutation SNP G G A TCGA-AB-2926-03A-01W-0732-08 TCGA-AB-2926-11A-01W-0761-09 G G G A G G Verified Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq 1 dbGAP Illumina HiSeq 890ea799-3156-40c3-839c-0c60179006d7 04ea59bd-4188-4b75-ae4b-4f8f3665db56 1 32910659 32910659 G A SNP RBBP4 NM_005610.1 human genbank 54_36p +1 reviewed missense c.988 p.E330K 1.000 HMMSmart_SM00320,superfamily_WD40 repeat-like,HMMPfam_WD40 HMMSmart_SM00320,superfamily_WD40 repeat-like,PatternScan_WD_REPEATS_1,HMMPfam_WD40 - no_errors 132 9 6.34 103 84 44.21 NA NA NA +ZNF642 0 genome.wustl.edu 37 1 40961520 40961520 + Missense_Mutation SNP A A G TCGA-AB-2926-03A-01W-0732-08 TCGA-AB-2926-11A-01W-0761-09 A A A G A A Verified Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq 1 dbGAP Illumina HiSeq 890ea799-3156-40c3-839c-0c60179006d7 04ea59bd-4188-4b75-ae4b-4f8f3665db56 1 40734107 40734107 A G SNP ZNF642 NM_198494.2 human genbank 54_36p +1 validated missense c.1370 p.H457R 0.957 HMMPfam_zf-C2H2,PatternScan_ZINC_FINGER_C2H2_1,HMMSmart_ZnF_C2H2,superfamily_SSF57667 HMMPfam_KRAB,HMMSmart_KRAB,superfamily_Krueppel-associated_box,HMMPfam_zf-C2H2,PatternScan_ZINC_FINGER_C2H2_1,HMMSmart_ZnF_C2H2,superfamily_SSF57667 - no_errors 109 15 12.00 45 55 55.00 NA NA NA +GCLM 0 genome.wustl.edu 37 1 94362368 94362368 + Missense_Mutation SNP C C T TCGA-AB-2926-03A-01W-0732-08 TCGA-AB-2926-11A-01W-0761-09 C C C T C C Verified Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq 1 dbGAP Illumina HiSeq 890ea799-3156-40c3-839c-0c60179006d7 04ea59bd-4188-4b75-ae4b-4f8f3665db56 1 94134956 94134956 C T SNP GCLM NM_002061.2 human genbank 54_36p -1 reviewed missense c.346 p.V116I 0.981 superfamily_NAD(P)-linked oxidoreductase HMMPfam_Aldo_ket_red,superfamily_NAD(P)-linked oxidoreductase - no_errors 83 4 4.49 59 26 30.59 NA NA NA +ITGAV 0 genome.wustl.edu 37 2 187487079 187487079 + Nonsense_Mutation SNP T T A TCGA-AB-2926-03A-01W-0732-08 TCGA-AB-2926-11A-01W-0761-09 T T T A T T Verified Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq 1 dbGAP Illumina HiSeq 890ea799-3156-40c3-839c-0c60179006d7 04ea59bd-4188-4b75-ae4b-4f8f3665db56 2 187195324 187195324 T A SNP ITGAV NM_002210.1 human genbank 54_36p +1 reviewed nonsense c.330 p.Y110* 1.000 superfamily_Integrin alpha N-terminal domain HMMPfam_Integrin_alpha,HMMPfam_FG-GAP,HMMSmart_SM00191,HMMPfam_Integrin_alpha2,PatternScan_INTEGRIN_ALPHA,superfamily_Integrin domains,superfamily_Integrin alpha N-terminal domain - no_errors 202 20 9.01 130 77 36.84 NA NA NA +IDH1 0 genome.wustl.edu 37 2 209113113 209113113 + Missense_Mutation SNP G G A rs121913499 TCGA-AB-2926-03A-01W-0732-08 TCGA-AB-2926-11A-01W-0761-09 G G G A G G Verified Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq 1 dbGAP Illumina HiSeq 890ea799-3156-40c3-839c-0c60179006d7 04ea59bd-4188-4b75-ae4b-4f8f3665db56 2 208821358 208821358 G A SNP IDH1 NM_005896.2 human genbank 54_36p -1 reviewed missense c.394 p.R132C 1.000 HMMPfam_Iso_dh,superfamily_Isocitrate/Isopropylmalate dehydrogenase-like HMMPfam_Iso_dh,PatternScan_IDH_IMDH,superfamily_Isocitrate/Isopropylmalate dehydrogenase-like - no_errors 81 5 5.81 50 55 51.89 NA NA NA +CXCL10 0 genome.wustl.edu 37 4 76943894 76943894 + Silent SNP T T C TCGA-AB-2926-03A-01W-0732-08 TCGA-AB-2926-11A-01W-0761-09 T T T C T T Verified Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq 1 dbGAP Illumina HiSeq 890ea799-3156-40c3-839c-0c60179006d7 04ea59bd-4188-4b75-ae4b-4f8f3665db56 4 77162918 77162918 T C SNP CXCL10 NM_001565.2 human genbank 54_36p -1 reviewed silent c.138 p.E46 0.669 HMMPfam_IL8,HMMSmart_SCY,superfamily_Chemokine_IL8,PatternScan_SMALL_CYTOKINES_CXC HMMPfam_IL8,HMMSmart_SCY,superfamily_Chemokine_IL8,PatternScan_SMALL_CYTOKINES_CXC - no_errors 213 25 10.29 106 84 44.21 NA NA NA +KIF27 0 genome.wustl.edu 37 9 86518166 86518166 + Missense_Mutation SNP C C T TCGA-AB-2926-03A-01W-0732-08 TCGA-AB-2926-11A-01W-0761-09 C C C T C C Verified Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq 1 dbGAP Illumina HiSeq 890ea799-3156-40c3-839c-0c60179006d7 04ea59bd-4188-4b75-ae4b-4f8f3665db56 9 85707986 85707986 C T SNP KIF27 NM_017576.1 human genbank 54_36p -1 provisional missense c.1267 p.V423I 0.878 NULL HMMPfam_Kinesin,HMMSmart_SM00129,PatternScan_KINESIN_MOTOR_DOMAIN1,superfamily_P-loop containing nucleoside triphosphate hydrolases - no_errors 176 17 8.72 106 67 38.73 NA NA NA +SBF2 0 genome.wustl.edu 37 11 10014071 10014071 + Missense_Mutation SNP C C T TCGA-AB-2926-03A-01W-0732-08 TCGA-AB-2926-11A-01W-0761-09 C C C T C C Verified Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq 1 dbGAP Illumina HiSeq 890ea799-3156-40c3-839c-0c60179006d7 04ea59bd-4188-4b75-ae4b-4f8f3665db56 11 9970647 9970647 C T SNP SBF2 NM_030962.3 human genbank 54_36p -1 reviewed missense c.1187 p.R396H 1.000 HMMPfam_dDENN,HMMSmart_SM00801 HMMPfam_DENN,HMMSmart_SM00799,HMMPfam_PH,HMMSmart_SM00233,HMMPfam_GRAM,HMMSmart_SM00568,HMMPfam_dDENN,HMMSmart_SM00801,HMMPfam_uDENN,HMMSmart_SM00800,HMMPfam_Myotub-related,superfamily_PH domain-like,superfamily_(Phosphotyrosine protein) phosphatases II - no_errors 89 5 5.26 61 56 47.46 NA NA NA +WNK1 0 genome.wustl.edu 37 12 970241 970241 + Missense_Mutation SNP A A C TCGA-AB-2926-03A-01W-0732-08 TCGA-AB-2926-11A-01W-0761-09 A A A C A A Verified Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq 1 dbGAP Illumina HiSeq 890ea799-3156-40c3-839c-0c60179006d7 04ea59bd-4188-4b75-ae4b-4f8f3665db56 12 840502 840502 A C SNP WNK1 NM_018979.2 human genbank 54_36p +1 validated missense c.1683 p.R561S 0.989 superfamily_Kinase_like PatternScan_PROTEIN_KINASE_ST,superfamily_Kinase_like,HMMPfam_Pkinase - no_errors 120 7 5.47 64 41 38.32 NA NA NA +FLT3 0 genome.wustl.edu 37 13 28592642 28592642 + Missense_Mutation SNP C C A rs121913488 TCGA-AB-2926-03A-01W-0732-08 TCGA-AB-2926-11A-01W-0761-09 C C C A C C Verified Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq 1 dbGAP Illumina HiSeq 890ea799-3156-40c3-839c-0c60179006d7 04ea59bd-4188-4b75-ae4b-4f8f3665db56 13 27490642 27490642 C A SNP FLT3 NM_004119.2 human genbank 54_36p -1 reviewed missense c.2503 p.D835Y 1.000 HMMPfam_Pkinase_Tyr,HMMSmart_TyrKc,superfamily_Kinase_like HMMPfam_Pkinase_Tyr,HMMSmart_TyrKc,PatternScan_RECEPTOR_TYR_KIN_III,PatternScan_PROTEIN_KINASE_TYR,superfamily_Kinase_like,HMMPfam_ig,PatternScan_PROTEIN_KINASE_ATP,superfamily_SSF48726 - no_errors 94 2 2.06 77 44 36.36 NA NA NA +AKAP5 0 genome.wustl.edu 37 14 64935416 64935416 + Missense_Mutation SNP G G A TCGA-AB-2926-03A-01W-0732-08 TCGA-AB-2926-11A-01W-0761-09 G G G A G G Verified Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq 1 dbGAP Illumina HiSeq 890ea799-3156-40c3-839c-0c60179006d7 04ea59bd-4188-4b75-ae4b-4f8f3665db56 14 64005169 64005169 G A SNP AKAP5 NM_004857.3 human genbank 54_36p +1 reviewed missense c.304 p.E102K 0.265 HMMPfam_WSK HMMPfam_WSK,HMMPfam_RII_binding_1 - no_errors 54 5 8.33 35 22 38.60 NA NA NA +MIR142 0 genome.wustl.edu 37 17 56408623 56408623 + RNA SNP A A G TCGA-AB-2926-03A-01W-0732-08 TCGA-AB-2926-11A-01W-0761-09 A A A G A A Verified Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq 1 dbGAP Illumina HiSeq 890ea799-3156-40c3-839c-0c60179006d7 04ea59bd-4188-4b75-ae4b-4f8f3665db56 17 53763622 53763622 A G SNP MIRN142 ENST00000384835 human ensembl 54_36p -1 known rna NULL NULL 1.000 - - - no_errors 61 2 3.12 48 30 37.97 NA NA NA +DDX17 0 genome.wustl.edu 37 22 38894089 38894089 + Splice_Site SNP C C T TCGA-AB-2926-03A-01W-0732-08 TCGA-AB-2926-11A-01W-0761-09 C C C T C C Verified Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq 1 dbGAP Illumina HiSeq 890ea799-3156-40c3-839c-0c60179006d7 04ea59bd-4188-4b75-ae4b-4f8f3665db56 22 37224035 37224035 C T SNP DDX17 NM_001098504.1 human genbank 54_36p -1 reviewed splice_site c.738+1 e5+1 1.000 - - - no_errors 133 8 5.48 90 75 44.64 NA NA NA +SHC1 0 genome.wustl.edu 37 1 154942910 154942911 + Frame_Shift_Ins INS - - G TCGA-AB-2926-03A-01W-0732-08 TCGA-AB-2926-11A-01W-0761-09 - - - G - - Verified Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq 1 dbGAP Illumina HiSeq 890ea799-3156-40c3-839c-0c60179006d7 04ea59bd-4188-4b75-ae4b-4f8f3665db56 1 153209534 153209535 - G INS SHC1 NM_183001.1 human genbank 54_36p -1 validated frame_shift_ins c.93_92 p.E32fs 1.000:1.000 NULL HMMPfam_SH2,HMMSmart_SM00252,HMMPfam_PID,HMMSmart_SM00462,superfamily_PH domain-like,superfamily_SH2 domain - no_errors 19 0 0.00 25 3 10.71 NA NA NA +STC2 0 genome.wustl.edu 37 5 172744925 172744926 + Frame_Shift_Ins INS - - C TCGA-AB-2926-03A-01W-0732-08 TCGA-AB-2926-11A-01W-0761-09 - - - C - - Verified Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq 1 dbGAP Illumina HiSeq 890ea799-3156-40c3-839c-0c60179006d7 04ea59bd-4188-4b75-ae4b-4f8f3665db56 5 172677531 172677532 - C INS STC2 NM_003714.2 human genbank 54_36p -1 reviewed frame_shift_ins c.834_833 p.L279fs 0.011:0.001 NULL HMMPfam_Stanniocalcin - no_errors 32 0 0.00 39 3 7.14 NA NA NA +CXorf58 0 genome.wustl.edu 37 X 23953460 23953460 + Nonsense_Mutation SNP C C T TCGA-AB-2927-03A-01W-0755-09 TCGA-AB-2927-11A-01W-0755-09 C C C T C C Verified Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq 1 dbGAP Illumina HiSeq 46bbb19d-2bc9-4f0a-ac4e-cad7327ca142 26459589-446d-4b29-90b8-e2d482fe291b X 23863381 23863381 C T SNP CXorf58 NM_152761.1 human genbank 54_36p +1 predicted nonsense c.703 p.R235* 0.770 NULL NULL - no_errors 131 2 1.49 79 43 35.25 NA NA NA +SRPX 0 genome.wustl.edu 37 X 38016254 38016254 + Silent SNP C C T TCGA-AB-2927-03A-01W-0755-09 TCGA-AB-2927-11A-01W-0755-09 C C C T C C Verified Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq 1 dbGAP Illumina HiSeq 46bbb19d-2bc9-4f0a-ac4e-cad7327ca142 26459589-446d-4b29-90b8-e2d482fe291b X 37901198 37901198 C T SNP SRPX NM_006307.3 human genbank 54_36p -1 provisional silent c.984 p.T328 0.437 NULL HMMPfam_Sushi,HMMSmart_SM00032,HMMPfam_HYR,superfamily_Complement control module/SCR domain - no_errors 132 1 0.75 95 42 30.43 3 0 0.00 +AKR7A2 0 genome.wustl.edu 37 1 19632540 19632540 + Missense_Mutation SNP C C G TCGA-AB-2927-03A-01W-0755-09 TCGA-AB-2927-11A-01W-0755-09 C C C G C C Verified Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq 1 dbGAP Illumina HiSeq 46bbb19d-2bc9-4f0a-ac4e-cad7327ca142 26459589-446d-4b29-90b8-e2d482fe291b 1 19505127 19505127 C G SNP AKR7A2 NM_003689.2 human genbank 54_36p -1 validated missense c.890 p.R297P 0.998 superfamily_Aldo/ket_red HMMPfam_Aldo_ket_red,superfamily_Aldo/ket_red - no_errors 56 0 0.00 10 13 56.52 22 13 37.14 +SLFNL1 0 genome.wustl.edu 37 1 41483672 41483672 + Missense_Mutation SNP C C T TCGA-AB-2927-03A-01W-0755-09 TCGA-AB-2927-11A-01W-0755-09 C C C T C C Verified Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq 1 dbGAP Illumina HiSeq 46bbb19d-2bc9-4f0a-ac4e-cad7327ca142 26459589-446d-4b29-90b8-e2d482fe291b 1 41256259 41256259 C T SNP SLFNL1 NM_144990.2 human genbank 54_36p -1 provisional missense c.592 p.D198N 0.971 NULL HMMPfam_AAA_4 - no_errors 18 0 0.00 28 14 33.33 6 4 40.00 +PRELP 0 genome.wustl.edu 37 1 203452870 203452870 + Silent SNP C C A TCGA-AB-2927-03A-01W-0755-09 TCGA-AB-2927-11A-01W-0755-09 C C C A C C Verified Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq 1 dbGAP Illumina HiSeq 46bbb19d-2bc9-4f0a-ac4e-cad7327ca142 26459589-446d-4b29-90b8-e2d482fe291b 1 201719493 201719493 C A SNP PRELP NM_002725.3 human genbank 54_36p +1 reviewed silent c.558 p.I186 1.000 HMMPfam_LRR_1,HMMSmart_SM00369,HMMSmart_SM00364,superfamily_L domain-like HMMPfam_LRRNT,HMMSmart_SM00013,HMMPfam_LRR_1,HMMSmart_SM00369,HMMSmart_SM00364,superfamily_L domain-like - no_errors 64 1 1.52 35 22 38.60 NA NA NA +TTN 0 genome.wustl.edu 37 2 179484779 179484779 + Missense_Mutation SNP A A C TCGA-AB-2927-03A-01W-0755-09 TCGA-AB-2927-11A-01W-0755-09 A A A C A A Verified Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq 1 dbGAP Illumina HiSeq 46bbb19d-2bc9-4f0a-ac4e-cad7327ca142 26459589-446d-4b29-90b8-e2d482fe291b 2 179193024 179193024 A C SNP TTN ENST00000375038 human ensembl 54_36p -1 known missense c.34311 p.D11437E 1.000 HMMSmart_SM00408,HMMSmart_SM00409,superfamily_Concanavalin A-like lectins/glucanases,superfamily_WD40 repeat-like,HMMPfam_I-set,superfamily_Immunoglobulin,superfamily_vWA-like,superfamily_Positive stranded ssRNA viruses HMMSmart_SM00219,HMMSmart_SM00220,PatternScan_IG_MHC,HMMSmart_SM00406,HMMSmart_SM00408,HMMSmart_SM00409,HMMPfam_fn3,HMMSmart_SM00060,HMMPfam_PPAK,PatternScan_PROTEIN_KINASE_TYR,superfamily_Fibronectin type III,superfamily_Concanavalin A-like lectins/glucanases,superfamily_Protein kinase-like (PK-like),superfamily_WD40 repeat-like,HMMPfam_I-set,HMMPfam_ig,HMMPfam_Titin_Z,HMMPfam_Pkinase,PatternScan_FGGY_KINASES_1,PatternScan_PEROXIDASE_1,superfamily_Immunoglobulin,superfamily_vWA-like,superfamily_Positive stranded ssRNA viruses - no_errors 109 3 2.68 70 33 32.04 3 0 0.00 +MST1R 0 genome.wustl.edu 37 3 49936337 49936337 + Missense_Mutation SNP C C T TCGA-AB-2927-03A-01W-0755-09 TCGA-AB-2927-11A-01W-0755-09 C C C T C C Verified Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq 1 dbGAP Illumina HiSeq 46bbb19d-2bc9-4f0a-ac4e-cad7327ca142 26459589-446d-4b29-90b8-e2d482fe291b 3 49911341 49911341 C T SNP MST1R NM_002447.2 human genbank 54_36p -1 validated missense c.1511 p.R504H 1.000 HMMPfam_Sema,HMMSmart_SM00630,superfamily_Sema domain HMMPfam_Pkinase_Tyr,HMMSmart_SM00219,HMMPfam_Sema,HMMSmart_SM00630,superfamily_Sema domain,HMMPfam_PSI,HMMSmart_SM00220,HMMPfam_TIG,HMMSmart_SM00429,HMMSmart_SM00423,PatternScan_PROTEIN_KINASE_TYR,superfamily_Protein kinase-like (PK-like),superfamily_E set domains,superfamily_Plexin repeat,PatternScan_PROTEIN_KINASE_ATP - no_errors 22 1 4.35 17 9 34.62 8 3 27.27 +HIST1H3D 0 genome.wustl.edu 37 6 26197396 26197396 + Nonsense_Mutation SNP T T A TCGA-AB-2927-03A-01W-0755-09 TCGA-AB-2927-11A-01W-0755-09 T T T A T T Verified Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq 1 dbGAP Illumina HiSeq 46bbb19d-2bc9-4f0a-ac4e-cad7327ca142 26459589-446d-4b29-90b8-e2d482fe291b 6 26305375 26305375 T A SNP HIST1H3D ENST00000377831 human ensembl 54_36p -1 known nonsense c.484 p.R162* 1.000 NULL HMMSmart_SM00414,PatternScan_HISTONE_H2A,HMMPfam_Histone,superfamily_Histone-fold - no_errors 18 0 0.00 21 11 34.38 61 38 38.00 +KCNU1 0 genome.wustl.edu 37 8 36780102 36780102 + Silent SNP G G A TCGA-AB-2927-03A-01W-0755-09 TCGA-AB-2927-11A-01W-0755-09 G G G A G G Verified Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq 1 dbGAP Illumina HiSeq 46bbb19d-2bc9-4f0a-ac4e-cad7327ca142 26459589-446d-4b29-90b8-e2d482fe291b 8 36899260 36899260 G A SNP KCNU1 NM_001031836.2 human genbank 54_36p +1 validated silent c.2691 p.T897 0.932 NULL HMMPfam_BK_channel_a,HMMPfam_Ion_trans,superfamily_NAD(P)-bd,superfamily_SSF81324 - no_errors 80 1 1.23 71 58 44.96 NA NA NA +DBC1 0 genome.wustl.edu 37 9 121971020 121971020 + Silent SNP G G A TCGA-AB-2927-03A-01W-0755-09 TCGA-AB-2927-11A-01W-0755-09 G G G A G G Verified Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq 1 dbGAP Illumina HiSeq 46bbb19d-2bc9-4f0a-ac4e-cad7327ca142 26459589-446d-4b29-90b8-e2d482fe291b 9 121010841 121010841 G A SNP DBC1 NM_014618.2 human genbank 54_36p -1 validated silent c.1122 p.P374 1.000 NULL HMMSmart_SM00457 - no_errors 95 1 1.04 131 72 35.47 NA NA NA +TACC2 0 genome.wustl.edu 37 10 123970284 123970284 + Missense_Mutation SNP C C T TCGA-AB-2927-03A-01W-0755-09 TCGA-AB-2927-11A-01W-0755-09 C C C T C C Verified Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq 1 dbGAP Illumina HiSeq 46bbb19d-2bc9-4f0a-ac4e-cad7327ca142 26459589-446d-4b29-90b8-e2d482fe291b 10 123960274 123960274 C T SNP TACC2 NM_206862.2 human genbank 54_36p +1 reviewed missense c.6344 p.T2115M 0.962 NULL HMMPfam_TACC - no_errors 100 2 1.94 50 24 32.43 NA NA NA +OR4C6 0 genome.wustl.edu 37 11 55433284 55433284 + Silent SNP G G A TCGA-AB-2927-03A-01W-0755-09 TCGA-AB-2927-11A-01W-0755-09 G G G A G G Verified Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq 1 dbGAP Illumina HiSeq 46bbb19d-2bc9-4f0a-ac4e-cad7327ca142 26459589-446d-4b29-90b8-e2d482fe291b 11 55189860 55189860 G A SNP OR4C6 NM_001004704.1 human genbank 54_36p +1 provisional silent c.642 p.A214 0.001 HMMPfam_7tm_1,superfamily_Family A G protein-coupled receptor-like HMMPfam_7tm_1,PatternScan_G_PROTEIN_RECEP_F1_1,superfamily_Family A G protein-coupled receptor-like - no_errors 113 4 3.39 121 79 39.50 2 0 0.00 +DAGLA 0 genome.wustl.edu 37 11 61503096 61503096 + Silent SNP C C A TCGA-AB-2927-03A-01W-0755-09 TCGA-AB-2927-11A-01W-0755-09 C C C A C C Verified Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq 1 dbGAP Illumina HiSeq 46bbb19d-2bc9-4f0a-ac4e-cad7327ca142 26459589-446d-4b29-90b8-e2d482fe291b 11 61259672 61259672 C A SNP DAGLA NM_006133.1 human genbank 54_36p +1 validated silent c.1192 p.R398 1.000 HMMPfam_Lipase_3,superfamily_SSF53474 HMMPfam_Lipase_3,PatternScan_LIPASE_SER,superfamily_SSF53474 - no_errors 24 0 0.00 18 4 17.39 1 3 75.00 +SH2B3 0 genome.wustl.edu 37 12 111885536 111885536 + Missense_Mutation SNP T T A TCGA-AB-2927-03A-01W-0755-09 TCGA-AB-2927-11A-01W-0755-09 T T T A T T Verified Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq 1 dbGAP Illumina HiSeq 46bbb19d-2bc9-4f0a-ac4e-cad7327ca142 26459589-446d-4b29-90b8-e2d482fe291b 12 110369919 110369919 T A SNP SH2B3 NM_005475.2 human genbank 54_36p +1 validated missense c.1313 p.L438H 0.965 HMMPfam_SH2,HMMSmart_SM00252,superfamily_SH2 domain HMMPfam_SH2,HMMSmart_SM00252,HMMPfam_PH,HMMSmart_SM00233,HMMPfam_Phe_ZIP,superfamily_Phenylalanine zipper,superfamily_PH domain-like,superfamily_SH2 domain - no_errors 37 0 0.00 17 19 52.78 57 44 43.56 +DIS3 0 genome.wustl.edu 37 13 73337717 73337717 + Missense_Mutation SNP T T C TCGA-AB-2927-03A-01W-0755-09 TCGA-AB-2927-11A-01W-0755-09 T T T C T T Verified Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq 1 dbGAP Illumina HiSeq 46bbb19d-2bc9-4f0a-ac4e-cad7327ca142 26459589-446d-4b29-90b8-e2d482fe291b 13 72235718 72235718 T C SNP DIS3 NM_014953.1 human genbank 54_36p -1 validated missense c.1999 p.M667V 1.000 HMMPfam_RNB HMMPfam_RNB,PatternScan_RIBONUCLEASE_II,HMMSmart_SM00670,superfamily_PIN domain-like - no_errors 54 0 0.00 85 50 37.04 15 6 28.57 +PRKD1 0 genome.wustl.edu 37 14 30093424 30093424 + Silent SNP G G A TCGA-AB-2927-03A-01W-0755-09 TCGA-AB-2927-11A-01W-0755-09 G G G A G G Verified Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq 1 dbGAP Illumina HiSeq 46bbb19d-2bc9-4f0a-ac4e-cad7327ca142 26459589-446d-4b29-90b8-e2d482fe291b 14 29163175 29163175 G A SNP PRKD1 NM_002742.2 human genbank 54_36p -1 validated silent c.1839 p.I613 0.995 HMMSmart_S_TKc,superfamily_Kinase_like,HMMPfam_Pkinase HMMPfam_PH,HMMSmart_PH,HMMPfam_C1_1,HMMSmart_C1,PatternScan_ZF_DAG_PE_1,HMMSmart_S_TKc,PatternScan_PROTEIN_KINASE_ST,superfamily_Kinase_like,PatternScan_PROTEIN_KINASE_ATP,HMMPfam_Pkinase,superfamily_SSF50729,superfamily_SSF57889 - no_errors 104 2 1.87 135 100 42.55 1 0 0.00 +SLC24A4 0 genome.wustl.edu 37 14 92908517 92908517 + Missense_Mutation SNP G G C TCGA-AB-2927-03A-01W-0755-09 TCGA-AB-2927-11A-01W-0755-09 G G G C G G Verified Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq 1 dbGAP Illumina HiSeq 46bbb19d-2bc9-4f0a-ac4e-cad7327ca142 26459589-446d-4b29-90b8-e2d482fe291b 14 91978270 91978270 G C SNP SLC24A4 NM_153646.2 human genbank 54_36p +1 validated missense c.427 p.G143R 1.000 HMMPfam_Na_Ca_ex HMMPfam_Na_Ca_ex - no_errors 47 3 6.00 79 27 25.47 NA NA NA +MOK 0 genome.wustl.edu 37 14 102700054 102700054 + Silent SNP G G A TCGA-AB-2927-03A-01W-0755-09 TCGA-AB-2927-11A-01W-0755-09 G G G A G G Verified Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq 1 dbGAP Illumina HiSeq 46bbb19d-2bc9-4f0a-ac4e-cad7327ca142 26459589-446d-4b29-90b8-e2d482fe291b 14 101769807 101769807 G A SNP RAGE NM_014226.1 human genbank 54_36p -1 provisional silent c.663 p.P221 0.089 HMMSmart_SM00219,HMMSmart_SM00220,superfamily_Protein kinase-like (PK-like),HMMPfam_Pkinase HMMSmart_SM00219,HMMSmart_SM00220,PatternScan_PROTEIN_KINASE_ST,superfamily_Protein kinase-like (PK-like),PatternScan_PROTEIN_KINASE_ATP,HMMPfam_Pkinase - no_errors 126 1 0.78 205 94 31.44 2 0 0.00 +ST8SIA2 0 genome.wustl.edu 37 15 92977522 92977522 + Silent SNP C C T TCGA-AB-2927-03A-01W-0755-09 TCGA-AB-2927-11A-01W-0755-09 C C C T C C Verified Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq 1 dbGAP Illumina HiSeq 46bbb19d-2bc9-4f0a-ac4e-cad7327ca142 26459589-446d-4b29-90b8-e2d482fe291b 15 90778526 90778526 C T SNP ST8SIA2 NM_006011.3 human genbank 54_36p +1 reviewed silent c.207 p.D69 1.000 NULL HMMPfam_Glyco_transf_29 - no_errors 66 1 1.47 79 41 34.17 NA NA NA +CHST6 0 genome.wustl.edu 37 16 75513159 75513159 + Missense_Mutation SNP C C G TCGA-AB-2927-03A-01W-0755-09 TCGA-AB-2927-11A-01W-0755-09 C C C G C C Verified Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq 1 dbGAP Illumina HiSeq 46bbb19d-2bc9-4f0a-ac4e-cad7327ca142 26459589-446d-4b29-90b8-e2d482fe291b 16 74070660 74070660 C G SNP CHST6 NM_021615.4 human genbank 54_36p -1 provisional missense c.568 p.D190H 0.996 HMMPfam_Sulfotransfer_1,superfamily_SSF52540 HMMPfam_Sulfotransfer_1,superfamily_SSF52540 - no_errors 16 0 0.00 9 4 30.77 NA NA NA +CRISPLD2 0 genome.wustl.edu 37 16 84906115 84906115 + Splice_Site SNP G G A TCGA-AB-2927-03A-01W-0755-09 TCGA-AB-2927-11A-01W-0755-09 G G G A G G Verified Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq 1 dbGAP Illumina HiSeq 46bbb19d-2bc9-4f0a-ac4e-cad7327ca142 26459589-446d-4b29-90b8-e2d482fe291b 16 83463616 83463616 G A SNP CRISPLD2 NM_031476.3 human genbank 54_36p +1 validated splice_site c.981+1 e8+1 0.998 - - - no_errors 93 0 0.00 99 56 36.13 2 0 0.00 +ASXL1 0 genome.wustl.edu 37 20 31022234 31022234 + Splice_Site SNP G G T TCGA-AB-2927-03A-01W-0755-09 TCGA-AB-2927-11A-01W-0755-09 G G G T G G Verified Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq 1 dbGAP Illumina HiSeq 46bbb19d-2bc9-4f0a-ac4e-cad7327ca142 26459589-446d-4b29-90b8-e2d482fe291b 20 30485895 30485895 G T SNP ASXL1 NM_015338.4 human genbank 54_36p +1 reviewed splice_site c.1720-1 e13-1 1.000 - - - no_errors 16 0 0.00 39 20 33.90 14 23 62.16 +KRTAP24-1 0 genome.wustl.edu 37 21 31654970 31654970 + Missense_Mutation SNP G G A TCGA-AB-2927-03A-01W-0755-09 TCGA-AB-2927-11A-01W-0755-09 G G G A G G Verified Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq 1 dbGAP Illumina HiSeq 46bbb19d-2bc9-4f0a-ac4e-cad7327ca142 26459589-446d-4b29-90b8-e2d482fe291b 21 30576841 30576841 G A SNP KRTAP24-1 NM_001085455.1 human genbank 54_36p -1 validated missense c.281 p.P94L 0.980 HMMPfam_PMG HMMPfam_PMG - no_errors 78 4 4.88 121 69 36.32 NA NA NA +RUNX1 0 genome.wustl.edu 37 21 36231783 36231783 + Nonsense_Mutation SNP G G A TCGA-AB-2927-03A-01W-0755-09 TCGA-AB-2927-11A-01W-0755-09 G G G A G G Verified Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq 1 dbGAP Illumina HiSeq 46bbb19d-2bc9-4f0a-ac4e-cad7327ca142 26459589-446d-4b29-90b8-e2d482fe291b 21 35153653 35153653 G A SNP RUNX1 NM_001754.2 human genbank 54_36p -1 reviewed nonsense c.601 p.R201* 1.000 superfamily_p53-like transcription factors,HMMPfam_Runt superfamily_p53-like transcription factors,HMMPfam_Runt,HMMPfam_RunxI - no_errors 106 4 3.60 48 24 33.33 437 335 43.34 +RUNX1 0 genome.wustl.edu 37 21 36252876 36252876 + Missense_Mutation SNP C C A TCGA-AB-2927-03A-01W-0755-09 TCGA-AB-2927-11A-01W-0755-09 C C C A C C Verified Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq 1 dbGAP Illumina HiSeq 46bbb19d-2bc9-4f0a-ac4e-cad7327ca142 26459589-446d-4b29-90b8-e2d482fe291b 21 35174746 35174746 C A SNP RUNX1 NM_001754.2 human genbank 54_36p -1 reviewed missense c.486 p.R162S 1.000 superfamily_p53-like transcription factors,HMMPfam_Runt superfamily_p53-like transcription factors,HMMPfam_Runt,HMMPfam_RunxI - no_errors 53 0 0.00 8 6 42.86 292 399 57.66 +SUMO2 0 genome.wustl.edu 37 17 73170871 73170872 + Frame_Shift_Ins INS - - TA TCGA-AB-2927-03A-01W-0755-09 TCGA-AB-2927-11A-01W-0755-09 - - - TA - - Verified Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq 1 dbGAP Illumina HiSeq 46bbb19d-2bc9-4f0a-ac4e-cad7327ca142 26459589-446d-4b29-90b8-e2d482fe291b 17 70682466 70682467 - TA INS SUMO2 NM_006937.1 human genbank 54_36p -1 reviewed frame_shift_ins c.201_200 p.N68fs 1.000:1.000 HMMPfam_ubiquitin,HMMSmart_SM00213,superfamily_Ubiquitin-like HMMPfam_ubiquitin,HMMSmart_SM00213,superfamily_Ubiquitin-like - no_errors 125 1 0.79 38 22 36.67 4 1 20.00 +TCF4 0 genome.wustl.edu 37 18 52896119 52896120 + Frame_Shift_Ins INS - - G TCGA-AB-2927-03A-01W-0755-09 TCGA-AB-2927-11A-01W-0755-09 - - - G - - Verified Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq 1 dbGAP Illumina HiSeq 46bbb19d-2bc9-4f0a-ac4e-cad7327ca142 26459589-446d-4b29-90b8-e2d482fe291b 18 51047117 51047118 - G INS TCF4 NM_001083962.1 human genbank 54_36p -1 reviewed frame_shift_ins c.1838_1837 p.Q613fs 1.000:1.000 HMMPfam_HLH,HMMSmart_HLH,superfamily_HLH_basic HMMPfam_HLH,HMMSmart_HLH,superfamily_HLH_basic - no_errors 64 1 1.54 50 18 26.47 100 81 44.75 +ELAVL4 0 genome.wustl.edu 37 1 50575630 50575630 + Silent SNP G G A TCGA-AB-2928-03A-01W-0745-08 TCGA-AB-2928-11A-01W-0745-08 G G G A G G Verified Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq 1 dbGAP Illumina HiSeq 39402967-4dad-4a46-b8d0-5fcb824bc2c2 233dc863-8cfb-4b4d-ad97-ee0685247f3a 1 50348217 50348217 G A SNP ELAVL4 ENST00000371821 human ensembl 54_36p +1 known silent c.18 p.L6 1.000 NULL HMMPfam_RRM_1,HMMSmart_RRM,superfamily_SSF54928 - no_errors 262 36 12.00 121 126 50.20 NA NA NA +DNMT3A 0 genome.wustl.edu 37 2 25462065 25462065 + Missense_Mutation SNP T T C TCGA-AB-2928-03A-01W-0745-08 TCGA-AB-2928-11A-01W-0745-08 T T T C T T Verified Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq 1 dbGAP Illumina HiSeq 39402967-4dad-4a46-b8d0-5fcb824bc2c2 233dc863-8cfb-4b4d-ad97-ee0685247f3a 2 25315569 25315569 T C SNP DNMT3A NM_022552.3 human genbank 54_36p -1 reviewed missense c.2342 p.D781G 1.000 superfamily_S-adenosyl-L-methionine-dependent methyltransferases HMMPfam_PWWP,HMMSmart_SM00293,HMMPfam_DNA_methylase,superfamily_FYVE/PHD zinc finger,PatternScan_C5_MTASE_1,superfamily_S-adenosyl-L-methionine-dependent methyltransferases,superfamily_Tudor/PWWP/MBT - no_errors 59 6 9.23 57 39 40.62 29 54 65.06 +DNMT3A 0 genome.wustl.edu 37 2 25470516 25470516 + Nonsense_Mutation SNP G G A TCGA-AB-2928-03A-01W-0745-08 TCGA-AB-2928-11A-01W-0745-08 G G G A G G Verified Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq 1 dbGAP Illumina HiSeq 39402967-4dad-4a46-b8d0-5fcb824bc2c2 233dc863-8cfb-4b4d-ad97-ee0685247f3a 2 25324020 25324020 G A SNP DNMT3A NM_022552.3 human genbank 54_36p -1 reviewed nonsense c.958 p.R320* 1.000 HMMPfam_PWWP,HMMSmart_SM00293,superfamily_Tudor/PWWP/MBT HMMPfam_PWWP,HMMSmart_SM00293,HMMPfam_DNA_methylase,superfamily_FYVE/PHD zinc finger,PatternScan_C5_MTASE_1,superfamily_S-adenosyl-L-methionine-dependent methyltransferases,superfamily_Tudor/PWWP/MBT - no_errors 88 14 13.46 73 59 44.36 40 16 28.57 +IDH1 0 genome.wustl.edu 37 2 209113113 209113113 + Missense_Mutation SNP G G A rs121913499 TCGA-AB-2928-03A-01W-0745-08 TCGA-AB-2928-11A-01W-0745-08 G G G A G G Verified Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq 1 dbGAP Illumina HiSeq 39402967-4dad-4a46-b8d0-5fcb824bc2c2 233dc863-8cfb-4b4d-ad97-ee0685247f3a 2 208821358 208821358 G A SNP IDH1 NM_005896.2 human genbank 54_36p -1 reviewed missense c.394 p.R132C 1.000 HMMPfam_Iso_dh,superfamily_Isocitrate/Isopropylmalate dehydrogenase-like HMMPfam_Iso_dh,PatternScan_IDH_IMDH,superfamily_Isocitrate/Isopropylmalate dehydrogenase-like - no_errors 94 11 10.48 102 63 37.72 26 38 59.38 +TET2 0 genome.wustl.edu 37 4 106190777 106190777 + Missense_Mutation SNP A A T TCGA-AB-2928-03A-01W-0745-08 TCGA-AB-2928-11A-01W-0745-08 A A A T A A Verified Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq 1 dbGAP Illumina HiSeq 39402967-4dad-4a46-b8d0-5fcb824bc2c2 233dc863-8cfb-4b4d-ad97-ee0685247f3a 4 106410226 106410226 A T SNP TET2 ENST00000265149 human ensembl 54_36p +1 known missense c.461 p.E154V 1.000 NULL NULL - no_start_codon 152 21 11.86 181 118 39.46 19 19 50.00 +SEMA3A 0 genome.wustl.edu 37 7 83592543 83592543 + Missense_Mutation SNP C C T TCGA-AB-2928-03A-01W-0745-08 TCGA-AB-2928-11A-01W-0745-08 C C C T C C Verified Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq 1 dbGAP Illumina HiSeq 39402967-4dad-4a46-b8d0-5fcb824bc2c2 233dc863-8cfb-4b4d-ad97-ee0685247f3a 7 83430479 83430479 C T SNP SEMA3A NM_006080.2 human genbank 54_36p -1 reviewed missense c.1838 p.R613Q 0.991 HMMSmart_IG,HMMPfam_ig,superfamily_SSF48726 HMMPfam_Sema,HMMSmart_Sema,superfamily_Sema,HMMSmart_IG,HMMSmart_PSI,HMMPfam_ig,superfamily_Plexin-like_fold,superfamily_SSF48726 - no_errors 190 10 4.98 138 34 19.65 NA NA NA +FLT3 0 genome.wustl.edu 37 13 28592629 28592629 + Missense_Mutation SNP T T C TCGA-AB-2928-03A-01W-0745-08 TCGA-AB-2928-11A-01W-0745-08 T T T C T T Verified Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq 1 dbGAP Illumina HiSeq 39402967-4dad-4a46-b8d0-5fcb824bc2c2 233dc863-8cfb-4b4d-ad97-ee0685247f3a 13 27490629 27490629 T C SNP FLT3 NM_004119.2 human genbank 54_36p -1 reviewed missense c.2516 p.D839G 1.000 HMMPfam_Pkinase_Tyr,HMMSmart_TyrKc,superfamily_Kinase_like HMMPfam_Pkinase_Tyr,HMMSmart_TyrKc,PatternScan_RECEPTOR_TYR_KIN_III,PatternScan_PROTEIN_KINASE_TYR,superfamily_Kinase_like,HMMPfam_ig,PatternScan_PROTEIN_KINASE_ATP,superfamily_SSF48726 - no_errors 171 11 5.98 130 43 24.02 171 59 25.65 +PKD1L2 0 genome.wustl.edu 37 16 81180903 81180903 + Missense_Mutation SNP C C T TCGA-AB-2928-03A-01W-0745-08 TCGA-AB-2928-11A-01W-0745-08 C C C T C C Verified Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq 1 dbGAP Illumina HiSeq 39402967-4dad-4a46-b8d0-5fcb824bc2c2 233dc863-8cfb-4b4d-ad97-ee0685247f3a 16 79738404 79738404 C T SNP PKD1L2 ENST00000299598 human ensembl 54_36p -1 known missense c.5192 p.R1731K 1.000 NULL HMMPfam_GPS,HMMSmart_SM00303,PatternScan_CHANNEL_COLICIN,HMMPfam_PLAT,HMMSmart_SM00308,HMMPfam_Lectin_C,HMMSmart_SM00034,superfamily_Lipase/lipooxygenase domain (PLAT/LH2 domain),HMMPfam_PKD_channel,superfamily_C-type lectin-like - no_errors 248 38 13.15 78 62 44.29 NA NA NA +CCBE1 0 genome.wustl.edu 37 18 57103289 57103289 + Missense_Mutation SNP C C T TCGA-AB-2928-03A-01W-0745-08 TCGA-AB-2928-11A-01W-0745-08 C C C T C C Verified Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq 1 dbGAP Illumina HiSeq 39402967-4dad-4a46-b8d0-5fcb824bc2c2 233dc863-8cfb-4b4d-ad97-ee0685247f3a 18 55254269 55254269 C T SNP CCBE1 NM_133459.1 human genbank 54_36p -1 provisional missense c.1072 p.G358R 1.000 NULL PatternScan_ASX_HYDROXYL,HMMSmart_SM00179,HMMSmart_SM00181,HMMPfam_Collagen,PatternScan_EGF_2,HMMPfam_EGF_CA,PatternScan_EGF_CA,superfamily_EGF/Laminin - no_errors 116 21 15.22 118 84 41.38 NA NA NA +ZNF99 0 genome.wustl.edu 37 19 22952090 22952090 + Missense_Mutation SNP C C T TCGA-AB-2928-03A-01W-0745-08 TCGA-AB-2928-11A-01W-0745-08 C C C T C C Verified Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq 1 dbGAP Illumina HiSeq 39402967-4dad-4a46-b8d0-5fcb824bc2c2 233dc863-8cfb-4b4d-ad97-ee0685247f3a 19 22743930 22743930 C T SNP ZNF99 NM_001080409.1 human genbank 54_36p -1 provisional missense c.103 p.A35T 0.002 HMMPfam_KRAB,HMMSmart_KRAB,superfamily_Krueppel-associated_box HMMPfam_KRAB,HMMSmart_KRAB,superfamily_Krueppel-associated_box,HMMPfam_zf-C2H2,PatternScan_ZINC_FINGER_C2H2_1,HMMSmart_ZnF_C2H2,superfamily_SSF57667 - no_errors 87 16 15.24 85 70 44.59 0 0 0.00 +TET2 0 genome.wustl.edu 37 4 106158442 106158442 + Frame_Shift_Del DEL C C - TCGA-AB-2928-03A-01W-0745-08 TCGA-AB-2928-11A-01W-0745-08 C C C - C C Verified Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq 1 dbGAP Illumina HiSeq 39402967-4dad-4a46-b8d0-5fcb824bc2c2 233dc863-8cfb-4b4d-ad97-ee0685247f3a 4 106377891 106377891 C - DEL TET2 NM_017628.1 human genbank 54_36p +1 validated frame_shift_del c.3343 p.P1115fs 0.996 NULL NULL - no_errors 72 9 10.84 74 51 39.84 15 9 37.50 +SYTL5 0 genome.wustl.edu 37 X 37935911 37935911 + Missense_Mutation SNP G G A TCGA-AB-2929-03A-01W-0732-08 TCGA-AB-2929-11A-01W-0732-08 G G G A G G Verified Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq 1 dbGAP Illumina HiSeq 3ca5c769-b07c-4a68-818d-ab2bb8141170 0aa884ea-58b7-4079-a204-be6fe7e90a24 X 37820855 37820855 G A SNP SYTL5 NM_138780.1 human genbank 54_36p +1 provisional missense c.646 p.G216S 0.109 HMMPfam_RPH3A_effector HMMPfam_C2,HMMSmart_C2,HMMPfam_RPH3A_effector,superfamily_C2_CaLB,superfamily_FYVE_PHD_ZnF - no_errors 84 4 4.55 131 77 36.84 NA NA NA +LOC644504 0 genome.wustl.edu 37 X 105570794 105570794 + Missense_Mutation SNP G G A TCGA-AB-2929-03A-01W-0732-08 TCGA-AB-2929-11A-01W-0732-08 G G G A G G Verified Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq 1 dbGAP Illumina HiSeq 3ca5c769-b07c-4a68-818d-ab2bb8141170 0aa884ea-58b7-4079-a204-be6fe7e90a24 X 105457450 105457450 G A SNP LOC644504 XM_001128075.1 human genbank 54_36p +1 model missense c.25 p.E9K 1.000 HMMPfam_CHGN,superfamily_Nucleotide-diphospho-sugar transferases HMMPfam_CHGN,superfamily_Nucleotide-diphospho-sugar transferases - no_errors 73 2 2.63 35 67 64.42 9 0 0.00 +BRCC3 0 genome.wustl.edu 37 X 154305490 154305490 + Nonsense_Mutation SNP C C T TCGA-AB-2929-03A-01W-0732-08 TCGA-AB-2929-11A-01W-0732-08 C C C T C C Verified Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq 1 dbGAP Illumina HiSeq 3ca5c769-b07c-4a68-818d-ab2bb8141170 0aa884ea-58b7-4079-a204-be6fe7e90a24 X 153958684 153958684 C T SNP BRCC3 NM_024332.1 human genbank 54_36p +1 reviewed nonsense c.241 p.R81* 1.000 HMMPfam_Mov34,HMMSmart_SM00232,superfamily_JAB1/MPN domain HMMPfam_Mov34,HMMSmart_SM00232,superfamily_JAB1/MPN domain - no_errors 96 5 4.90 48 61 54.95 1 11 91.67 +SYPL2 0 genome.wustl.edu 37 1 110019500 110019500 + Silent SNP G G A TCGA-AB-2929-03A-01W-0732-08 TCGA-AB-2929-11A-01W-0732-08 G G G A G G Verified Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq 1 dbGAP Illumina HiSeq 3ca5c769-b07c-4a68-818d-ab2bb8141170 0aa884ea-58b7-4079-a204-be6fe7e90a24 1 109821023 109821023 G A SNP SYPL2 NM_001040709.1 human genbank 54_36p +1 validated silent c.357 p.V119 1.000 HMMPfam_MARVEL HMMPfam_MARVEL - no_errors 82 5 5.75 145 81 35.53 NA NA NA +NTSR2 0 genome.wustl.edu 37 2 11800178 11800178 + Missense_Mutation SNP G G A TCGA-AB-2929-03A-01W-0732-08 TCGA-AB-2929-11A-01W-0732-08 G G G A G G Verified Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq 1 dbGAP Illumina HiSeq 3ca5c769-b07c-4a68-818d-ab2bb8141170 0aa884ea-58b7-4079-a204-be6fe7e90a24 2 11717629 11717629 G A SNP NTSR2 NM_012344.3 human genbank 54_36p -1 reviewed missense c.980 p.A327V 0.001 HMMPfam_7tm_1,superfamily_Family A G protein-coupled receptor-like HMMPfam_7tm_1,PatternScan_G_PROTEIN_RECEP_F1_1,superfamily_Family A G protein-coupled receptor-like - no_errors 47 0 0.00 71 26 26.26 NA NA NA +SF3B1 0 genome.wustl.edu 37 2 198266834 198266834 + Missense_Mutation SNP T T C TCGA-AB-2929-03A-01W-0732-08 TCGA-AB-2929-11A-01W-0732-08 T T T C T T Verified Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq 1 dbGAP Illumina HiSeq 3ca5c769-b07c-4a68-818d-ab2bb8141170 0aa884ea-58b7-4079-a204-be6fe7e90a24 2 197975079 197975079 T C SNP SF3B1 NM_012433.1 human genbank 54_36p -1 reviewed missense c.2098 p.K700E 1.000 HMMPfam_HEAT,superfamily_ARM repeat HMMPfam_HEAT,HMMPfam_SF3b1,superfamily_ARM repeat - no_errors 44 0 0.00 57 57 49.57 291 258 46.99 +ENSG00000214135 0 genome.wustl.edu 37 3 195390553 195390553 + Missense_Mutation SNP A A G TCGA-AB-2929-03A-01W-0732-08 TCGA-AB-2929-11A-01W-0732-08 A A A G A A Verified Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq 1 dbGAP Illumina HiSeq 3ca5c769-b07c-4a68-818d-ab2bb8141170 0aa884ea-58b7-4079-a204-be6fe7e90a24 3 196875734 196875734 A G SNP ENSG00000214135 ENST00000397590 human ensembl 54_36p +1 known missense c.194 p.Y65C 1.000 HMMPfam_FAD_binding_2,superfamily_SSF51905 HMMPfam_FAD_binding_2,HMMPfam_Succ_DH_flav_C,superfamily_Succ_DH_flav_C,superfamily_SSF51905,superfamily_SSF56425 - no_start_codon:no_stop_codon 8 0 0.00 15 7 31.82 4 0 0.00 +CD74 0 genome.wustl.edu 37 5 149784252 149784252 + Missense_Mutation SNP G G A TCGA-AB-2929-03A-01W-0732-08 TCGA-AB-2929-11A-01W-0732-08 G G G A G G Verified Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq 1 dbGAP Illumina HiSeq 3ca5c769-b07c-4a68-818d-ab2bb8141170 0aa884ea-58b7-4079-a204-be6fe7e90a24 5 149764445 149764445 G A SNP CD74 NM_001025159.1 human genbank 54_36p -1 validated missense c.616 p.P206S 0.002 superfamily_Thyroglobulin type-1 domain,HMMPfam_MHCassoc_trimer,superfamily_Class II MHC-associated invariant chain ectoplasmic trimerization domain HMMPfam_Thyroglobulin_1,HMMSmart_SM00211,PatternScan_THYROGLOBULIN_1_1,superfamily_Thyroglobulin type-1 domain,HMMPfam_MHCassoc_trimer,superfamily_Class II MHC-associated invariant chain ectoplasmic trimerization domain,HMMPfam_MHC2-interact - no_errors 53 2 3.57 68 49 41.53 1915 2008 51.11 +HIVEP1 0 genome.wustl.edu 37 6 12125884 12125884 + Silent SNP G G A TCGA-AB-2929-03A-01W-0732-08 TCGA-AB-2929-11A-01W-0732-08 G G G A G G Verified Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq 1 dbGAP Illumina HiSeq 3ca5c769-b07c-4a68-818d-ab2bb8141170 0aa884ea-58b7-4079-a204-be6fe7e90a24 6 12233870 12233870 G A SNP HIVEP1 NM_002114.2 human genbank 54_36p +1 validated silent c.5856 p.S1952 0.006 NULL HMMPfam_zf-C2H2,PatternScan_ZINC_FINGER_C2H2_1,HMMSmart_SM00355,superfamily_C2H2 and C2HC zinc fingers - no_errors 41 1 2.38 50 30 37.50 10 6 37.50 +TNC 0 genome.wustl.edu 37 9 117803360 117803360 + Missense_Mutation SNP G G A TCGA-AB-2929-03A-01W-0732-08 TCGA-AB-2929-11A-01W-0732-08 G G G A G G Verified Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq 1 dbGAP Illumina HiSeq 3ca5c769-b07c-4a68-818d-ab2bb8141170 0aa884ea-58b7-4079-a204-be6fe7e90a24 9 116843181 116843181 G A SNP TNC NM_002160.2 human genbank 54_36p -1 validated missense c.5252 p.T1751I 0.001 HMMPfam_fn3,HMMSmart_FN3,superfamily_FN_III-like HMMPfam_Fibrinogen_C,HMMSmart_FBG,superfamily_Fibrinogen_a/b/g_C,HMMPfam_fn3,HMMSmart_FN3,HMMPfam_EGF,HMMSmart_EGF,superfamily_FN_III-like,PatternScan_EGF_1,PatternScan_EGF_2,HMMPfam_EGF_2 - no_errors 97 2 2.02 173 116 40.00 16 10 38.46 +ITIH2 0 genome.wustl.edu 37 10 7791219 7791219 + Silent SNP C C T TCGA-AB-2929-03A-01W-0732-08 TCGA-AB-2929-11A-01W-0732-08 C C C T C C Verified Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq 1 dbGAP Illumina HiSeq 3ca5c769-b07c-4a68-818d-ab2bb8141170 0aa884ea-58b7-4079-a204-be6fe7e90a24 10 7831225 7831225 C T SNP ITIH2 NM_002216.2 human genbank 54_36p +1 validated silent c.2763 p.N921 1.000 HMMPfam_ITI_HC_C HMMPfam_VWA,HMMSmart_VWA,HMMSmart_VIT,HMMPfam_ITI_HC_C,HMMPfam_VIT,superfamily_SSF53300 - no_errors 59 4 6.35 78 61 43.57 10 11 52.38 +TPH1 0 genome.wustl.edu 37 11 18044466 18044466 + Nonsense_Mutation SNP C C A TCGA-AB-2929-03A-01W-0732-08 TCGA-AB-2929-11A-01W-0732-08 C C C A C C Verified Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq 1 dbGAP Illumina HiSeq 3ca5c769-b07c-4a68-818d-ab2bb8141170 0aa884ea-58b7-4079-a204-be6fe7e90a24 11 18001042 18001042 C A SNP TPH1 NM_004179.1 human genbank 54_36p -1 provisional nonsense c.1039 p.G347* 1.000 HMMPfam_Biopterin_H,superfamily_Aromatic aminoacid monoxygenases catalytic and oligomerization domains HMMPfam_ACT,PatternScan_BIOPTERIN_HYDROXYL,HMMPfam_Biopterin_H,superfamily_Aromatic aminoacid monoxygenases catalytic and oligomerization domains,superfamily_ACT-like - no_errors 83 3 3.49 94 60 38.96 1 1 50.00 +E2F8 0 genome.wustl.edu 37 11 19252361 19252361 + Missense_Mutation SNP A A G TCGA-AB-2929-03A-01W-0732-08 TCGA-AB-2929-11A-01W-0732-08 A A A G A A Verified Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq 1 dbGAP Illumina HiSeq 3ca5c769-b07c-4a68-818d-ab2bb8141170 0aa884ea-58b7-4079-a204-be6fe7e90a24 11 19208937 19208937 A G SNP E2F8 NM_024680.2 human genbank 54_36p -1 validated missense c.1087 p.F363L 0.000 NULL HMMPfam_E2F_TDP,superfamily_"Winged helix" DNA-binding domain - no_errors 89 5 5.21 101 77 42.31 4 2 33.33 +OR8B12 0 genome.wustl.edu 37 11 124412936 124412936 + Silent SNP G G A TCGA-AB-2929-03A-01W-0732-08 TCGA-AB-2929-11A-01W-0732-08 G G G A G G Verified Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq 1 dbGAP Illumina HiSeq 3ca5c769-b07c-4a68-818d-ab2bb8141170 0aa884ea-58b7-4079-a204-be6fe7e90a24 11 123918146 123918146 G A SNP OR8B12 NM_001005195.1 human genbank 54_36p -1 provisional silent c.615 p.D205 0.006 HMMPfam_7tm_1,superfamily_Family A G protein-coupled receptor-like HMMPfam_7tm_1,PatternScan_G_PROTEIN_RECEP_F1_1,superfamily_Family A G protein-coupled receptor-like - no_errors 68 0 0.00 133 38 22.09 NA NA NA +KRAS 0 genome.wustl.edu 37 12 25398284 25398284 + Missense_Mutation SNP C C T rs121913529 TCGA-AB-2929-03A-01W-0732-08 TCGA-AB-2929-11A-01W-0732-08 C C C T C C Verified Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq 1 dbGAP Illumina HiSeq 3ca5c769-b07c-4a68-818d-ab2bb8141170 0aa884ea-58b7-4079-a204-be6fe7e90a24 12 25289551 25289551 C T SNP KRAS NM_033360.3 human genbank 54_36p -1 reviewed missense c.35 p.G12D 1.000 HMMSmart_SM00176,HMMSmart_SM00173,HMMSmart_SM00174,HMMSmart_SM00175,HMMPfam_Ras,superfamily_P-loop containing nucleoside triphosphate hydrolases HMMSmart_SM00176,HMMSmart_SM00173,HMMSmart_SM00174,HMMSmart_SM00175,HMMPfam_Ras,superfamily_P-loop containing nucleoside triphosphate hydrolases - no_errors 22 2 8.00 16 37 69.81 0 18 100.00 +ALDH1A3 0 genome.wustl.edu 37 15 101427864 101427864 + Missense_Mutation SNP C C T TCGA-AB-2929-03A-01W-0732-08 TCGA-AB-2929-11A-01W-0732-08 C C C T C C Verified Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq 1 dbGAP Illumina HiSeq 3ca5c769-b07c-4a68-818d-ab2bb8141170 0aa884ea-58b7-4079-a204-be6fe7e90a24 15 99245387 99245387 C T SNP ALDH1A3 NM_000693.2 human genbank 54_36p +1 reviewed missense c.292 p.R98W 0.960 HMMPfam_Aldedh,superfamily_Aldehyde_DH/Histidinol_DH HMMPfam_Aldedh,PatternScan_ALDEHYDE_DEHYDR_CYS,PatternScan_ALDEHYDE_DEHYDR_GLU,superfamily_Aldehyde_DH/Histidinol_DH - no_errors 14 0 0.00 24 18 41.86 NA NA NA +CD70 0 genome.wustl.edu 37 19 6586144 6586144 + Missense_Mutation SNP G G A TCGA-AB-2929-03A-01W-0732-08 TCGA-AB-2929-11A-01W-0732-08 G G G A G G Verified Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq 1 dbGAP Illumina HiSeq 3ca5c769-b07c-4a68-818d-ab2bb8141170 0aa884ea-58b7-4079-a204-be6fe7e90a24 19 6537144 6537144 G A SNP CD70 NM_001252.3 human genbank 54_36p -1 reviewed missense c.469 p.R157C 0.958 HMMPfam_TNF,HMMSmart_SM00207,superfamily_TNF-like HMMPfam_TNF,HMMSmart_SM00207,PatternScan_TNF_1,superfamily_TNF-like - no_errors 83 8 8.70 151 74 32.89 11 9 45.00 +PCDHGA10 0 genome.wustl.edu 37 5 140793765 140793767 + In_Frame_Del DEL AGA AGA - TCGA-AB-2929-03A-01W-0732-08 TCGA-AB-2929-11A-01W-0732-08 AGA AGA AGA - AGA AGA Verified Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq 1 dbGAP Illumina HiSeq 3ca5c769-b07c-4a68-818d-ab2bb8141170 0aa884ea-58b7-4079-a204-be6fe7e90a24 5 140773949 140773951 AGA - DEL PCDHGA10 NM_018913.2 human genbank 54_36p +1 reviewed in_frame_del c.1023_1025 p.E342in_frame_del 0.002:0.003:0.175 HMMPfam_Cadherin,HMMSmart_SM00112,PatternScan_CADHERIN_1,superfamily_Cadherin-like HMMPfam_Cadherin,HMMSmart_SM00112,PatternScan_CADHERIN_1,HMMPfam_Cadherin_2,superfamily_Cadherin-like - no_errors 0 0 0.00 0 12 27.91 0 0 0.00 +TRO 0 genome.wustl.edu 37 X 54956611 54956611 + Missense_Mutation SNP G G A TCGA-AB-2930-03A-01W-0761-09 TCGA-AB-2930-11A-01W-0745-08 G G G A G G Verified Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq 1 dbGAP Illumina HiSeq 0f30992e-555b-429e-89d5-7a7edc5934d7 4ab787f8-8273-4436-82d6-0c3a3c805bde X 54973336 54973336 G A SNP TRO NM_001039705.1 human genbank 54_36p +1 reviewed missense c.3454 p.A1152T 0.002 NULL HMMPfam_MAGE - no_errors 34 2 5.56 47 28 37.33 0 3 100.00 +CYP4A22 0 genome.wustl.edu 37 1 47614423 47614423 + Missense_Mutation SNP G G A TCGA-AB-2930-03A-01W-0761-09 TCGA-AB-2930-11A-01W-0745-08 G G G A G G Verified Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq 1 dbGAP Illumina HiSeq 0f30992e-555b-429e-89d5-7a7edc5934d7 4ab787f8-8273-4436-82d6-0c3a3c805bde 1 47387010 47387010 G A SNP CYP4A22 NM_001010969.2 human genbank 54_36p +1 reviewed missense c.1514 p.R505H 0.934 HMMPfam_p450,superfamily_Cytochrome P450 HMMPfam_p450,superfamily_Cytochrome P450,PatternScan_CYTOCHROME_P450 - no_errors 76 4 5.00 36 41 53.25 NA NA NA +MAT1A 0 genome.wustl.edu 37 10 82039990 82039990 + Missense_Mutation SNP C C T TCGA-AB-2930-03A-01W-0761-09 TCGA-AB-2930-11A-01W-0745-08 C C C T C C Verified Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq 1 dbGAP Illumina HiSeq 0f30992e-555b-429e-89d5-7a7edc5934d7 4ab787f8-8273-4436-82d6-0c3a3c805bde 10 82029970 82029970 C T SNP MAT1A NM_000429.2 human genbank 54_36p -1 reviewed missense c.488 p.R163Q 0.977 HMMPfam_S-AdoMet_synt_M,superfamily_S-AdoMet_synt HMMPfam_S-AdoMet_synt_N,HMMPfam_S-AdoMet_synt_M,HMMPfam_S-AdoMet_synt_C,PatternScan_ADOMET_SYNTHETASE_1,PatternScan_ADOMET_SYNTHETASE_2,superfamily_S-AdoMet_synt - no_errors 67 7 9.09 33 54 62.07 NA NA NA +PC 0 genome.wustl.edu 37 11 66638943 66638943 + Silent SNP G G A TCGA-AB-2930-03A-01W-0761-09 TCGA-AB-2930-11A-01W-0745-08 G G G A G G Verified Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq 1 dbGAP Illumina HiSeq 0f30992e-555b-429e-89d5-7a7edc5934d7 4ab787f8-8273-4436-82d6-0c3a3c805bde 11 66395519 66395519 G A SNP PC NM_000920.3 human genbank 54_36p -1 reviewed silent c.330 p.N110 0.244 HMMPfam_CPSase_L_chain,superfamily_PreATP-grasp-like HMMPfam_Biotin_lipoyl,HMMPfam_HMGL-like,PatternScan_BIOTIN,HMMPfam_PYC_OADA,HMMPfam_CPSase_L_D2,HMMPfam_CPSase_L_chain,HMMPfam_Biotin_carb_C,superfamily_Hybrid_motif,superfamily_Rudmnt_hyb_motif,superfamily_PreATP-grasp-like,superfamily_SSF51569,superfamily_SSF56059,superfamily_SSF89000 - no_errors 20 1 4.76 4 6 60.00 0 2 100.00 +KCNA5 0 genome.wustl.edu 37 12 5154834 5154834 + Silent SNP C C A TCGA-AB-2930-03A-01W-0761-09 TCGA-AB-2930-11A-01W-0745-08 C C C A C C Verified Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq 1 dbGAP Illumina HiSeq 0f30992e-555b-429e-89d5-7a7edc5934d7 4ab787f8-8273-4436-82d6-0c3a3c805bde 12 5025095 5025095 C A SNP KCNA5 NM_002234.2 human genbank 54_36p +1 reviewed silent c.1521 p.T507 1.000 HMMPfam_Ion_trans,superfamily_Voltage-gated potassium channels HMMSmart_SM00225,HMMPfam_K_tetra,HMMPfam_Ion_trans,superfamily_POZ domain,superfamily_Voltage-gated potassium channels - no_errors 31 2 6.06 22 18 45.00 1 2 66.67 +ZSCAN5A 0 genome.wustl.edu 37 19 56734093 56734093 + Silent SNP T T C TCGA-AB-2930-03A-01W-0761-09 TCGA-AB-2930-11A-01W-0745-08 T T T C T T Verified Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq 1 dbGAP Illumina HiSeq 0f30992e-555b-429e-89d5-7a7edc5934d7 4ab787f8-8273-4436-82d6-0c3a3c805bde 19 61425905 61425905 T C SNP ZSCAN5A NM_024303.1 human genbank 54_36p -1 provisional silent c.606 p.L202 0.014 NULL HMMPfam_SCAN,HMMSmart_SCAN,HMMPfam_zf-C2H2,PatternScan_ZINC_FINGER_C2H2_1,HMMSmart_ZnF_C2H2,superfamily_SSF57667 - no_errors 68 6 8.11 56 56 50.00 6 6 50.00 +ARAP2 0 genome.wustl.edu 37 4 36149165 36149168 + Splice_Site DEL CTTA CTTA - TCGA-AB-2930-03A-01W-0761-09 TCGA-AB-2930-11A-01W-0745-08 CTTA CTTA CTTA - CTTA CTTA Verified Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq 1 dbGAP Illumina HiSeq 0f30992e-555b-429e-89d5-7a7edc5934d7 4ab787f8-8273-4436-82d6-0c3a3c805bde 4 35825560 35825563 CTTA - DEL ARAP2 NM_015230.2 human genbank 54_36p -1 reviewed splice_site_del c.3199+2_3199+1 e17+2 0.990:0.994:0.996:1.000 - - - no_errors NA NA NA NA NA NA NA NA NA +LOC642738 0 genome.wustl.edu 37 6 159947376 159947377 + RNA INS - - TT rs61112029 TCGA-AB-2930-03A-01W-0761-09 TCGA-AB-2930-11A-01W-0745-08 - - - TT - - Verified Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq 1 dbGAP Illumina HiSeq 0f30992e-555b-429e-89d5-7a7edc5934d7 4ab787f8-8273-4436-82d6-0c3a3c805bde 6 159867366 159867367 - TT INS LOC642738 XR_017625.2 human genbank 54_36p -1 model rna NULL NULL 1.000:1.000 - - - pseudogene 19 0 0.00 14 0 0.00 0 0 0.00 +OR5P2 0 genome.wustl.edu 37 11 7818383 7818384 + In_Frame_Ins INS - - ATATGGTTACCAGGTAGATGC TCGA-AB-2930-03A-01W-0761-09 TCGA-AB-2930-11A-01W-0745-08 - - - ATATGGTTACCAGGTAGATGC - - Verified Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq 1 dbGAP Illumina HiSeq 0f30992e-555b-429e-89d5-7a7edc5934d7 4ab787f8-8273-4436-82d6-0c3a3c805bde 11 7774959 7774960 - ATATGGTTACCAGGTAGATGC INS OR5P2 NM_153444.1 human genbank 54_36p -1 provisional in_frame_ins c.107_106 p.36in_frame_insCIYLVTI 0.149:0.139 superfamily_SSF81321 HMMPfam_7tm_1,PatternScan_G_PROTEIN_RECEP_F1_1,superfamily_SSF81321 - no_errors NA NA NA NA NA NA NA NA NA +WT1 0 genome.wustl.edu 37 11 32417941 32417942 + Frame_Shift_Ins INS - - A TCGA-AB-2930-03A-01W-0761-09 TCGA-AB-2930-11A-01W-0745-08 - - - A - - Verified Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq 1 dbGAP Illumina HiSeq 0f30992e-555b-429e-89d5-7a7edc5934d7 4ab787f8-8273-4436-82d6-0c3a3c805bde 11 32374517 32374518 - A INS WT1 NM_024426.3 human genbank 54_36p -1 reviewed frame_shift_ins c.1111_1110 p.V370fs 1.000:0.986 HMMPfam_WT1 HMMPfam_WT1,HMMPfam_zf-C2H2,PatternScan_ZINC_FINGER_C2H2_1,HMMSmart_SM00355,superfamily_C2H2 and C2HC zinc fingers - no_errors 27 1 3.57 7 8 53.33 1 9 90.00 +WT1 0 genome.wustl.edu 37 11 32417945 32417946 + Frame_Shift_Ins INS - - C TCGA-AB-2930-03A-01W-0761-09 TCGA-AB-2930-11A-01W-0745-08 - - - C - - Verified Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq 1 dbGAP Illumina HiSeq 0f30992e-555b-429e-89d5-7a7edc5934d7 4ab787f8-8273-4436-82d6-0c3a3c805bde 11 32374521 32374522 - C INS WT1 NM_024426.3 human genbank 54_36p -1 reviewed frame_shift_ins c.1107_1106 p.R370fs 0.458:0.832 HMMPfam_WT1 HMMPfam_WT1,HMMPfam_zf-C2H2,PatternScan_ZINC_FINGER_C2H2_1,HMMSmart_SM00355,superfamily_C2H2 and C2HC zinc fingers - no_errors 27 0 0.00 11 4 26.67 9 0 0.00 +FLT3 0 genome.wustl.edu 37 13 28608273 28608274 + In_Frame_Ins INS - - GAAATCAACGTAGAAGTACTCATTATCTGAGGAGCCGGTACC TCGA-AB-2930-03A-01W-0761-09 TCGA-AB-2930-11A-01W-0745-08 - - - GAAATCAACGTAGAAGTACTCATTATCTGAGGAGCCGGTACC - - Verified Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq 1 dbGAP Illumina HiSeq 0f30992e-555b-429e-89d5-7a7edc5934d7 4ab787f8-8273-4436-82d6-0c3a3c805bde 13 27506273 27506274 - GAAATCAACGTAGAAGTACTCATTATCTGAGGAGCCGGTACC INS FLT3 NM_004119.2 human genbank 54_36p -1 reviewed in_frame_ins c.1783_1782 p.594in_frame_insGTGSSDNEYFYVDF 1.000:1.000 superfamily_Kinase_like HMMPfam_Pkinase_Tyr,HMMSmart_TyrKc,PatternScan_RECEPTOR_TYR_KIN_III,PatternScan_PROTEIN_KINASE_TYR,superfamily_Kinase_like,HMMPfam_ig,PatternScan_PROTEIN_KINASE_ATP,superfamily_SSF48726 - no_errors NA NA NA NA NA NA NA NA NA +KRT18P40 0 genome.wustl.edu 37 19 21145434 21145435 + RNA INS - - G rs35599227 TCGA-AB-2930-03A-01W-0761-09 TCGA-AB-2930-11A-01W-0745-08 - - - G - - Verified Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq 1 dbGAP Illumina HiSeq 0f30992e-555b-429e-89d5-7a7edc5934d7 4ab787f8-8273-4436-82d6-0c3a3c805bde 19 20937274 20937275 - G INS KRT18P40 XR_017288.1 human genbank 54_36p +1 model rna NULL NULL 0.997:1.000 - - - pseudogene 11 1 8.33 14 7 33.33 0 0 0.00 +HSPB7 0 genome.wustl.edu 37 1 16342130 16342130 + Missense_Mutation SNP C C T TCGA-AB-2931-03A-01W-0745-08 TCGA-AB-2931-11A-01W-0745-08 C C C T C C Verified Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq 1 dbGAP Illumina HiSeq 87ebd9e4-74d3-4314-85ea-86e6feacd628 af114bb0-997c-4288-ad46-547239566692 1 16214717 16214717 C T SNP HSPB7 NM_014424.4 human genbank 54_36p -1 validated missense c.458 p.R153H 0.906 HMMPfam_HSP20,superfamily_HSP20-like chaperones HMMPfam_HSP20,superfamily_HSP20-like chaperones - no_errors 124 4 3.12 20 34 62.96 NA NA NA +DNMT3A 0 genome.wustl.edu 37 2 25457243 25457243 + Missense_Mutation SNP G G A TCGA-AB-2931-03A-01W-0745-08 TCGA-AB-2931-11A-01W-0745-08 G G G A G G Verified Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq 1 dbGAP Illumina HiSeq 87ebd9e4-74d3-4314-85ea-86e6feacd628 af114bb0-997c-4288-ad46-547239566692 2 25310747 25310747 G A SNP DNMT3A NM_022552.3 human genbank 54_36p -1 reviewed missense c.2644 p.R882C 1.000 superfamily_S-adenosyl-L-methionine-dependent methyltransferases HMMPfam_PWWP,HMMSmart_SM00293,HMMPfam_DNA_methylase,superfamily_FYVE/PHD zinc finger,PatternScan_C5_MTASE_1,superfamily_S-adenosyl-L-methionine-dependent methyltransferases,superfamily_Tudor/PWWP/MBT - no_errors 106 4 3.64 23 20 46.51 41 50 54.95 +ACTBL2 0 genome.wustl.edu 37 5 56777739 56777739 + Missense_Mutation SNP A A G TCGA-AB-2931-03A-01W-0745-08 TCGA-AB-2931-11A-01W-0745-08 A A A G A A Verified Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq 1 dbGAP Illumina HiSeq 87ebd9e4-74d3-4314-85ea-86e6feacd628 af114bb0-997c-4288-ad46-547239566692 5 56813496 56813496 A G SNP ACTBL2 NM_001017992.2 human genbank 54_36p -1 validated missense c.796 p.S266P 1.000 HMMPfam_Actin,HMMSmart_SM00268,superfamily_Actin-like ATPase domain HMMPfam_Actin,HMMSmart_SM00268,PatternScan_ACTINS_ACT_LIKE,PatternScan_ACTINS_1,PatternScan_ACTINS_2,superfamily_Actin-like ATPase domain - no_errors 150 3 1.96 65 63 49.22 NA NA NA +SYNE1 0 genome.wustl.edu 37 6 152738068 152738068 + Missense_Mutation SNP C C T TCGA-AB-2931-03A-01W-0745-08 TCGA-AB-2931-11A-01W-0745-08 C C C T C C Verified Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq 1 dbGAP Illumina HiSeq 87ebd9e4-74d3-4314-85ea-86e6feacd628 af114bb0-997c-4288-ad46-547239566692 6 152779761 152779761 C T SNP SYNE1 NM_182961.2 human genbank 54_36p -1 reviewed missense c.5504 p.R1835H 0.024 superfamily_Spectrin repeat PatternScan_ACTININ_1,PatternScan_ACTININ_2,HMMPfam_CH,HMMSmart_SM00033,HMMPfam_Spectrin,HMMPfam_KASH,superfamily_Calponin-homology domain CH-domain,HMMSmart_SM00150,superfamily_Spectrin repeat - no_errors 303 9 2.88 119 115 49.15 1 0 0.00 +NRCAM 0 genome.wustl.edu 37 7 107831727 107831727 + Missense_Mutation SNP G G A TCGA-AB-2931-03A-01W-0745-08 TCGA-AB-2931-11A-01W-0745-08 G G G A G G Verified Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq 1 dbGAP Illumina HiSeq 87ebd9e4-74d3-4314-85ea-86e6feacd628 af114bb0-997c-4288-ad46-547239566692 7 107618963 107618963 G A SNP NRCAM NM_001037132.1 human genbank 54_36p -1 reviewed missense c.1904 p.A635V 1.000 superfamily_Immunoglobulin PatternScan_IG_MHC,HMMSmart_SM00408,HMMSmart_SM00409,HMMPfam_fn3,HMMSmart_SM00060,superfamily_Fibronectin type III,HMMPfam_I-set,HMMPfam_ig,superfamily_Immunoglobulin - no_errors 63 2 3.08 53 31 36.90 NA NA NA +GSTK1 0 genome.wustl.edu 37 7 142960620 142960620 + Missense_Mutation SNP C C T TCGA-AB-2931-03A-01W-0745-08 TCGA-AB-2931-11A-01W-0745-08 C C C T C C Verified Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq 1 dbGAP Illumina HiSeq 87ebd9e4-74d3-4314-85ea-86e6feacd628 af114bb0-997c-4288-ad46-547239566692 7 142670742 142670742 C T SNP GSTK1 NM_015917.1 human genbank 54_36p +1 reviewed missense c.14 p.P5L 0.419 superfamily_Thioredoxin-like HMMPfam_DSBA,superfamily_Thioredoxin-like - no_errors 69 0 0.00 30 43 58.90 115 117 50.21 +COL22A1 0 genome.wustl.edu 37 8 139697551 139697551 + Missense_Mutation SNP G G A TCGA-AB-2931-03A-01W-0745-08 TCGA-AB-2931-11A-01W-0745-08 G G G A G G Verified Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq 1 dbGAP Illumina HiSeq 87ebd9e4-74d3-4314-85ea-86e6feacd628 af114bb0-997c-4288-ad46-547239566692 8 139766733 139766733 G A SNP COL22A1 NM_152888.1 human genbank 54_36p -1 validated missense c.2867 p.A956V 0.108 HMMPfam_Collagen HMMPfam_VWA,HMMSmart_SM00327,HMMSmart_SM00210,HMMPfam_Collagen,superfamily_Concanavalin A-like lectins/glucanases,superfamily_vWA-like - no_errors 48 0 0.00 29 4 12.12 NA NA NA +C3 0 genome.wustl.edu 37 19 6707203 6707203 + Missense_Mutation SNP C C T TCGA-AB-2931-03A-01W-0745-08 TCGA-AB-2931-11A-01W-0745-08 C C C T C C Verified Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq 1 dbGAP Illumina HiSeq 87ebd9e4-74d3-4314-85ea-86e6feacd628 af114bb0-997c-4288-ad46-547239566692 19 6658203 6658203 C T SNP C3 NM_000064.2 human genbank 54_36p -1 reviewed missense c.2129 p.R710Q 0.942 HMMPfam_ANATO,HMMSmart_SM00104,PatternScan_ANAPHYLATOXIN_1,superfamily_Anaphylotoxins (complement system) HMMPfam_ANATO,HMMSmart_SM00104,PatternScan_ANAPHYLATOXIN_1,HMMPfam_A2M,HMMPfam_A2M_N,superfamily_Terpenoid cyclases/Protein prenyltransferases,superfamily_TIMP-like,HMMPfam_A2M_recep,superfamily_Alpha-macroglobulin receptor domain,HMMPfam_A2M_N_2,HMMPfam_A2M_comp,superfamily_Anaphylotoxins (complement system),HMMPfam_NTR,HMMSmart_SM00643,HMMPfam_Thiol-ester_cl,PatternScan_ALPHA_2_MACROGLOBULIN - no_errors 88 2 2.22 21 19 47.50 NA NA NA +NLRP11 0 genome.wustl.edu 37 19 56321374 56321374 + Missense_Mutation SNP T T G TCGA-AB-2931-03A-01W-0745-08 TCGA-AB-2931-11A-01W-0745-08 T T T G T T Verified Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq 1 dbGAP Illumina HiSeq 87ebd9e4-74d3-4314-85ea-86e6feacd628 af114bb0-997c-4288-ad46-547239566692 19 61013186 61013186 T G SNP NLRP11 NM_145007.3 human genbank 54_36p -1 validated missense c.602 p.E201A 0.072 HMMPfam_NACHT PatternScan_CU2_MONOOXYGENASE_1,HMMSmart_SM00368,HMMPfam_PAAD_DAPIN,HMMPfam_NACHT,superfamily_DEATH domain,superfamily_RNI-like - no_errors 167 14 7.73 74 56 43.08 NA NA NA +KRTAP10-7 0 genome.wustl.edu 37 21 46020572 46020572 + Silent SNP C C T TCGA-AB-2931-03A-01W-0745-08 TCGA-AB-2931-11A-01W-0745-08 C C C T C C Verified Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq 1 dbGAP Illumina HiSeq 87ebd9e4-74d3-4314-85ea-86e6feacd628 af114bb0-997c-4288-ad46-547239566692 21 44845000 44845000 C T SNP KRTAP10-7 NM_198689.2 human genbank 54_36p +1 validated silent c.51 p.S17 0.002 NULL HMMPfam_Keratin_B2 - no_errors 109 6 5.17 49 35 41.67 NA NA NA +NPM1 0 genome.wustl.edu 37 5 170837543 170837544 + Frame_Shift_Ins INS - - TCTG TCGA-AB-2931-03A-01W-0745-08 TCGA-AB-2931-11A-01W-0745-08 - - - TCTG - - Verified Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq 1 dbGAP Illumina HiSeq 87ebd9e4-74d3-4314-85ea-86e6feacd628 af114bb0-997c-4288-ad46-547239566692 5 170770148 170770149 - TCTG INS NPM1 NM_002520.1 human genbank 54_36p +1 validated frame_shift_ins c.859_860 p.W288fs 1.000:1.000 NULL HMMPfam_Nucleoplasmin,superfamily_Nucleoplasmin-like core domain - no_errors NA NA NA NA NA NA NA NA NA +FLT3 0 genome.wustl.edu 37 13 28608219 28608220 + In_Frame_Ins INS - - AAACTCTAAATTTTCTCTTGGAAACTCCCATTTGAGATCATATTCATATTCTCTGAAATCAACGTAGAAGCCCTG TCGA-AB-2931-03A-01W-0745-08 TCGA-AB-2931-11A-01W-0745-08 - - - AAACTCTAAATTTTCTCTTGGAAACTCCCATTTGAGATCATATTCATATTCTCTGAAATCAACGTAGAAGCCCTG - - Verified Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq 1 dbGAP Illumina HiSeq 87ebd9e4-74d3-4314-85ea-86e6feacd628 af114bb0-997c-4288-ad46-547239566692 13 27506219 27506220 - AAACTCTAAATTTTCTCTTGGAAACTCCCATTTGAGATCATATTCATATTCTCTGAAATCAACGTAGAAGCCCTG INS FLT3 NM_004119.2 human genbank 54_36p -1 reviewed in_frame_ins c.1837_1836 p.612in_frame_insQGFYVDFREYEYDLKWEFPRENLEF 1.000:1.000 HMMPfam_Pkinase_Tyr,HMMSmart_TyrKc,superfamily_Kinase_like HMMPfam_Pkinase_Tyr,HMMSmart_TyrKc,PatternScan_RECEPTOR_TYR_KIN_III,PatternScan_PROTEIN_KINASE_TYR,superfamily_Kinase_like,HMMPfam_ig,PatternScan_PROTEIN_KINASE_ATP,superfamily_SSF48726 - no_errors NA NA NA NA NA NA NA NA NA +NRAS 0 genome.wustl.edu 37 1 115258744 115258744 + Missense_Mutation SNP C C T rs121434596 TCGA-AB-2932-03A-01W-0745-08 TCGA-AB-2932-11A-01W-0745-08 C C C T C C Verified Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq 1 dbGAP Illumina HiSeq 0e9732b4-5a84-4965-94d7-c73f5ad0c980 03f36e64-f07d-4c2d-b00f-d92b54742594 1 115060267 115060267 C T SNP NRAS NM_002524.3 human genbank 54_36p -1 reviewed missense c.38 p.G13D 1.000 HMMSmart_SM00173,HMMSmart_SM00174,HMMSmart_SM00175,HMMPfam_Ras,superfamily_P-loop containing nucleoside triphosphate hydrolases HMMSmart_SM00173,HMMSmart_SM00174,HMMSmart_SM00175,HMMPfam_Ras,superfamily_P-loop containing nucleoside triphosphate hydrolases - no_errors 99 8 7.41 68 35 33.98 27 7 20.59 +XIRP1 0 genome.wustl.edu 37 3 39228919 39228919 + Missense_Mutation SNP C C T TCGA-AB-2932-03A-01W-0745-08 TCGA-AB-2932-11A-01W-0745-08 C C C T C C Verified Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq 1 dbGAP Illumina HiSeq 0e9732b4-5a84-4965-94d7-c73f5ad0c980 03f36e64-f07d-4c2d-b00f-d92b54742594 3 39203923 39203923 C T SNP XIRP1 NM_194293.2 human genbank 54_36p -1 provisional missense c.2018 p.R673H 0.000 NULL HMMPfam_Xin - no_errors 53 3 5.36 21 7 25.00 NA NA NA +LARS 0 genome.wustl.edu 37 5 145543937 145543937 + Missense_Mutation SNP G G C TCGA-AB-2932-03A-01W-0745-08 TCGA-AB-2932-11A-01W-0745-08 G G G C G G Verified Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq 1 dbGAP Illumina HiSeq 0e9732b4-5a84-4965-94d7-c73f5ad0c980 03f36e64-f07d-4c2d-b00f-d92b54742594 5 145524130 145524130 G C SNP LARS NM_020117.9 human genbank 54_36p -1 reviewed missense c.530 p.A177G 1.000 superfamily_Nucleotidylyl transferase PatternScan_AA_TRNA_LIGASE_I,superfamily_ValRS/IleRS/LeuRS editing domain,superfamily_Anticodon-binding domain of a subclass of class I aminoacyl-tRNA synthetases,HMMPfam_Anticodon_1,HMMPfam_tRNA-synt_1g,superfamily_Nucleotidylyl transferase - no_errors 92 8 8.00 67 45 40.18 21 23 52.27 +NELL1 0 genome.wustl.edu 37 11 20959373 20959373 + Silent SNP C C A TCGA-AB-2932-03A-01W-0745-08 TCGA-AB-2932-11A-01W-0745-08 C C C A C C Verified Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq 1 dbGAP Illumina HiSeq 0e9732b4-5a84-4965-94d7-c73f5ad0c980 03f36e64-f07d-4c2d-b00f-d92b54742594 11 20915949 20915949 C A SNP NELL1 NM_006157.3 human genbank 54_36p +1 reviewed silent c.1039 p.R347 0.995 HMMSmart_SM00214 PatternScan_ASX_HYDROXYL,HMMPfam_VWC,HMMSmart_SM00214,PatternScan_VWFC_1,HMMSmart_SM00282,HMMSmart_SM00179,HMMSmart_SM00210,HMMSmart_SM00181,HMMSmart_SM00215,superfamily_Concanavalin A-like lectins/glucanases,PatternScan_EGF_1,PatternScan_EGF_2,HMMPfam_EGF_CA,HMMPfam_EGF_2,PatternScan_EGF_CA,superfamily_EGF/Laminin - no_errors 220 11 4.76 201 60 22.99 NA NA NA +DSG2 0 genome.wustl.edu 37 18 29100843 29100843 + Silent SNP T T G TCGA-AB-2932-03A-01W-0745-08 TCGA-AB-2932-11A-01W-0745-08 T T T G T T Verified Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq 1 dbGAP Illumina HiSeq 0e9732b4-5a84-4965-94d7-c73f5ad0c980 03f36e64-f07d-4c2d-b00f-d92b54742594 18 27354841 27354841 T G SNP DSG2 NM_001943.3 human genbank 54_36p +1 reviewed silent c.294 p.P98 0.573 HMMPfam_Cadherin,HMMSmart_CA,superfamily_Cadherin HMMPfam_Cadherin,HMMSmart_CA,PatternScan_CADHERIN_1,superfamily_Cadherin - no_errors 68 2 2.78 33 32 49.23 NA NA NA +SETD2 0 genome.wustl.edu 37 3 47165152 47165153 + Frame_Shift_Ins INS - - C TCGA-AB-2932-03A-01W-0745-08 TCGA-AB-2932-11A-01W-0745-08 - - - C - - Verified Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq 1 dbGAP Illumina HiSeq 0e9732b4-5a84-4965-94d7-c73f5ad0c980 03f36e64-f07d-4c2d-b00f-d92b54742594 3 47140156 47140157 - C INS SETD2 ENST00000409792 human ensembl 54_36p -1 known frame_shift_ins c.974_973 p.E325fs 1.000:1.000 NULL HMMPfam_WW,HMMSmart_SM00456,PatternScan_WW_DOMAIN_1,superfamily_WW domain,HMMPfam_SET,HMMSmart_SM00317,HMMSmart_SM00508,HMMSmart_SM00570,superfamily_Ferritin-like,HMMPfam_SRI_2,PatternScan_ADH_IRON_1,superfamily_SET domain - no_errors 0 0 0.00 0 0 0.00 18 16 47.06 +NPM1 0 genome.wustl.edu 37 5 170837543 170837544 + Frame_Shift_Ins INS - - TCTG TCGA-AB-2932-03A-01W-0745-08 TCGA-AB-2932-11A-01W-0745-08 - - - TCTG - - Verified Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq 1 dbGAP Illumina HiSeq 0e9732b4-5a84-4965-94d7-c73f5ad0c980 03f36e64-f07d-4c2d-b00f-d92b54742594 5 170770148 170770149 - TCTG INS NPM1 NM_002520.1 human genbank 54_36p +1 validated frame_shift_ins c.859_860 p.W288fs 1.000:1.000 NULL HMMPfam_Nucleoplasmin,superfamily_Nucleoplasmin-like core domain - no_errors NA NA NA NA NA NA NA NA NA +UBE2R2 0 genome.wustl.edu 37 9 33917176 33917178 + In_Frame_Del DEL GAG GAG - TCGA-AB-2932-03A-01W-0745-08 TCGA-AB-2932-11A-01W-0745-08 GAG GAG GAG - GAG GAG Verified Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq 1 dbGAP Illumina HiSeq 0e9732b4-5a84-4965-94d7-c73f5ad0c980 03f36e64-f07d-4c2d-b00f-d92b54742594 9 33907176 33907178 GAG - DEL UBE2R2 NM_017811.3 human genbank 54_36p +1 reviewed in_frame_del c.658_660 p.E223in_frame_del 1.000:1.000:1.000 NULL HMMPfam_UQ_con,HMMSmart_SM00212,PatternScan_UBIQUITIN_CONJUGAT_1,superfamily_UBC-like - no_errors 0 15 8.24 0 60 29.85 0 101 28.86 +RUNX1 0 genome.wustl.edu 37 21 36252878 36252878 + Missense_Mutation SNP T T C TCGA-AB-2933-03A-01W-0732-08 TCGA-AB-2933-11A-01W-0732-08 T T T C T T Verified Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq 1 dbGAP Illumina HiSeq 6d15ce69-363c-4d86-a28b-e0e5466bf654 90ef281f-d23b-4c3c-b73c-f786d6cebf30 21 35174748 35174748 T C SNP RUNX1 NM_001754.2 human genbank 54_36p -1 reviewed missense c.484 p.R162G 1.000 superfamily_p53-like transcription factors,HMMPfam_Runt superfamily_p53-like transcription factors,HMMPfam_Runt,HMMPfam_RunxI - no_errors 48 12 20.00 10 14 58.33 119 162 57.65 +ENSG00000163098 0 genome.wustl.edu 37 2 113611120 113611121 + Frame_Shift_Ins INS - - G TCGA-AB-2933-03A-01W-0732-08 TCGA-AB-2933-11A-01W-0732-08 - - - G - - Verified Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq 1 dbGAP Illumina HiSeq 6d15ce69-363c-4d86-a28b-e0e5466bf654 90ef281f-d23b-4c3c-b73c-f786d6cebf30 2 113327591 113327592 - G INS ENSG00000163098 ENST00000295249 human ensembl 54_36p +1 known frame_shift_ins c.93_94 p.L33fs 0.994:0.999 HMMPfam_BIR,HMMSmart_BIR,superfamily_SSF57924 HMMPfam_BIR,HMMSmart_BIR,superfamily_SSF57924 - no_errors 39 0 0.00 24 3 11.11 1 0 0.00 +KCTD9P2 0 genome.wustl.edu 37 X 104650902 104650902 + Silent SNP C C T TCGA-AB-2934-03A-01W-0755-09 TCGA-AB-2934-11A-01W-0755-09 C C C T C C Verified Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq 1 dbGAP Illumina HiSeq 7791e140-fe03-44d0-8250-47826ea993df c98ddb47-f34c-4646-a434-5f8e6f6b5853 X 104537558 104537558 C T SNP KCTD9P2 ENST00000313275 human ensembl 54_36p +1 known silent c.354 p.H118 1.000 HMMSmart_BTB,HMMPfam_K_tetra,superfamily_BTB/POZ_fold HMMSmart_BTB,HMMPfam_K_tetra,superfamily_BTB/POZ_fold - no_errors 59 6 9.23 15 107 87.70 8 0 0.00 +DNMT3A 0 genome.wustl.edu 37 2 25463286 25463286 + Missense_Mutation SNP C C T TCGA-AB-2934-03A-01W-0755-09 TCGA-AB-2934-11A-01W-0755-09 C C C T C C Verified Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq 1 dbGAP Illumina HiSeq 7791e140-fe03-44d0-8250-47826ea993df c98ddb47-f34c-4646-a434-5f8e6f6b5853 2 25316790 25316790 C T SNP DNMT3A NM_022552.3 human genbank 54_36p -1 reviewed missense c.2207 p.R736H 1.000 HMMPfam_DNA_methylase,superfamily_S-adenosyl-L-methionine-dependent methyltransferases HMMPfam_PWWP,HMMSmart_SM00293,HMMPfam_DNA_methylase,superfamily_FYVE/PHD zinc finger,PatternScan_C5_MTASE_1,superfamily_S-adenosyl-L-methionine-dependent methyltransferases,superfamily_Tudor/PWWP/MBT - no_errors 47 6 11.32 34 26 41.27 25 31 55.36 +DNMT3A 0 genome.wustl.edu 37 2 25464576 25464576 + Missense_Mutation SNP C C A TCGA-AB-2934-03A-01W-0755-09 TCGA-AB-2934-11A-01W-0755-09 C C C A C C Verified Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq 1 dbGAP Illumina HiSeq 7791e140-fe03-44d0-8250-47826ea993df c98ddb47-f34c-4646-a434-5f8e6f6b5853 2 25318080 25318080 C A SNP DNMT3A NM_022552.3 human genbank 54_36p -1 reviewed missense c.1937 p.G646V 1.000 superfamily_S-adenosyl-L-methionine-dependent methyltransferases HMMPfam_PWWP,HMMSmart_SM00293,HMMPfam_DNA_methylase,superfamily_FYVE/PHD zinc finger,PatternScan_C5_MTASE_1,superfamily_S-adenosyl-L-methionine-dependent methyltransferases,superfamily_Tudor/PWWP/MBT - no_errors 30 1 3.23 60 36 37.50 27 14 34.15 +CYBRD1 0 genome.wustl.edu 37 2 172411097 172411097 + Missense_Mutation SNP G G T TCGA-AB-2934-03A-01W-0755-09 TCGA-AB-2934-11A-01W-0755-09 G G G T G G Verified Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq 1 dbGAP Illumina HiSeq 7791e140-fe03-44d0-8250-47826ea993df c98ddb47-f34c-4646-a434-5f8e6f6b5853 2 172119343 172119343 G T SNP CYBRD1 ENST00000375252 human ensembl 54_36p +1 known missense c.412 p.D138Y 0.981 NULL HMMPfam_Cytochrom_B561,PatternScan_SPASE_I_1 - no_errors 66 9 12.00 130 109 45.23 63 29 31.52 +KCNH2 0 genome.wustl.edu 37 7 150649894 150649894 + Silent SNP T T G TCGA-AB-2934-03A-01W-0755-09 TCGA-AB-2934-11A-01W-0755-09 T T T G T T Verified Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq 1 dbGAP Illumina HiSeq 7791e140-fe03-44d0-8250-47826ea993df c98ddb47-f34c-4646-a434-5f8e6f6b5853 7 150280827 150280827 T G SNP KCNH2 NM_000238.2 human genbank 54_36p -1 reviewed silent c.1176 p.A392 0.899 NULL HMMPfam_cNMP_binding,HMMSmart_SM00100,HMMSmart_SM00086,HMMPfam_Ion_trans,HMMPfam_PAS,superfamily_cAMP-binding domain-like,superfamily_PYP-like sensor domain (PAS domain),superfamily_Voltage-gated potassium channels - no_errors 42 3 6.67 43 41 47.67 1 1 50.00 +LOC100132672 0 genome.wustl.edu 37 9 69502172 69502172 + RNA SNP A A G TCGA-AB-2934-03A-01W-0755-09 TCGA-AB-2934-11A-01W-0755-09 A A A G A A Verified Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq 1 dbGAP Illumina HiSeq 7791e140-fe03-44d0-8250-47826ea993df c98ddb47-f34c-4646-a434-5f8e6f6b5853 9 68791992 68791992 A G SNP LOC100132672 XR_038504.1 human genbank 54_36p +1 model rna NULL NULL 0.998 - - - pseudogene 24 0 0.00 121 27 18.00 NA NA NA +C9orf43 0 genome.wustl.edu 37 9 116185663 116185663 + Missense_Mutation SNP A A G TCGA-AB-2934-03A-01W-0755-09 TCGA-AB-2934-11A-01W-0755-09 A A A G A A Verified Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq 1 dbGAP Illumina HiSeq 7791e140-fe03-44d0-8250-47826ea993df c98ddb47-f34c-4646-a434-5f8e6f6b5853 9 115225484 115225484 A G SNP C9orf43 NM_152786.1 human genbank 54_36p +1 predicted missense c.541 p.T181A 0.000 NULL NULL - no_errors 101 8 7.34 120 106 46.09 NA NA NA +ABCG4 0 genome.wustl.edu 37 11 119031351 119031351 + Missense_Mutation SNP A A G TCGA-AB-2934-03A-01W-0755-09 TCGA-AB-2934-11A-01W-0755-09 A A A G A A Verified Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq 1 dbGAP Illumina HiSeq 7791e140-fe03-44d0-8250-47826ea993df c98ddb47-f34c-4646-a434-5f8e6f6b5853 11 118536561 118536561 A G SNP ABCG4 NM_022169.1 human genbank 54_36p +1 reviewed missense c.1700 p.Y567C 1.000 HMMPfam_ABC2_membrane HMMPfam_ABC_tran,HMMSmart_SM00382,HMMPfam_ABC2_membrane,PatternScan_ABC_TRANSPORTER_1,superfamily_P-loop containing nucleoside triphosphate hydrolases - no_errors 86 3 3.33 135 66 32.84 NA NA NA +MGAT4C 0 genome.wustl.edu 37 12 86373735 86373735 + Missense_Mutation SNP G G T TCGA-AB-2934-03A-01W-0755-09 TCGA-AB-2934-11A-01W-0755-09 G G G T G G Verified Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq 1 dbGAP Illumina HiSeq 7791e140-fe03-44d0-8250-47826ea993df c98ddb47-f34c-4646-a434-5f8e6f6b5853 12 84897866 84897866 G T SNP MGAT4C NM_013244.3 human genbank 54_36p -1 validated missense c.769 p.L257I 1.000 HMMPfam_Glyco_transf_54 HMMPfam_Glyco_transf_54 - no_errors 37 3 7.50 72 65 46.76 NA NA NA +IDH2 0 genome.wustl.edu 37 15 90631934 90631934 + Missense_Mutation SNP C C T rs121913502 TCGA-AB-2934-03A-01W-0755-09 TCGA-AB-2934-11A-01W-0755-09 C C C T C C Verified Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq 1 dbGAP Illumina HiSeq 7791e140-fe03-44d0-8250-47826ea993df c98ddb47-f34c-4646-a434-5f8e6f6b5853 15 88432938 88432938 C T SNP IDH2 NM_002168.2 human genbank 54_36p -1 reviewed missense c.419 p.R140Q 1.000 HMMPfam_Iso_dh,superfamily_Isocitrate/Isopropylmalate dehydrogenase-like HMMPfam_Iso_dh,PatternScan_IDH_IMDH,superfamily_Isocitrate/Isopropylmalate dehydrogenase-like - no_errors 69 2 2.82 59 51 46.36 93 82 46.86 +USP9X 0 genome.wustl.edu 37 X 41027390 41027391 + Frame_Shift_Ins INS - - CG TCGA-AB-2934-03A-01W-0755-09 TCGA-AB-2934-11A-01W-0755-09 - - - CG - - Verified Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq 1 dbGAP Illumina HiSeq 7791e140-fe03-44d0-8250-47826ea993df c98ddb47-f34c-4646-a434-5f8e6f6b5853 X 40912334 40912335 - CG INS USP9X NM_001039590.2 human genbank 54_36p +1 reviewed frame_shift_ins c.2555_2556 p.V853fs 1.000:1.000 NULL HMMPfam_UCH,PatternScan_UCH_2_1,PatternScan_UCH_2_2,superfamily_Cysteine proteinases - no_errors 85 0 0.00 217 0 0.00 9 0 0.00 +FLT3 0 genome.wustl.edu 37 13 28608257 28608258 + In_Frame_Ins INS - - CATATTCATATTCTCTGAAATCAACGTAGAAGTACTCATTATCTTAGGAGCCGGTCC TCGA-AB-2934-03A-01W-0755-09 TCGA-AB-2934-11A-01W-0755-09 - - - CATATTCATATTCTCTGAAATCAACGTAGAAGTACTCATTATCTTAGGAGCCGGTCC - - Verified Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq 1 dbGAP Illumina HiSeq 7791e140-fe03-44d0-8250-47826ea993df c98ddb47-f34c-4646-a434-5f8e6f6b5853 13 27506257 27506258 - CATATTCATATTCTCTGAAATCAACGTAGAAGTACTCATTATCTTAGGAGCCGGTCC INS FLT3 NM_004119.2 human genbank 54_36p -1 reviewed in_frame_ins c.1799_1798 p.600in_frame_insGTGS*DNEYFYVDFREYEY 1.000:1.000 superfamily_Kinase_like HMMPfam_Pkinase_Tyr,HMMSmart_TyrKc,PatternScan_RECEPTOR_TYR_KIN_III,PatternScan_PROTEIN_KINASE_TYR,superfamily_Kinase_like,HMMPfam_ig,PatternScan_PROTEIN_KINASE_ATP,superfamily_SSF48726 - no_errors NA NA NA NA NA NA NA NA NA +ZBTB33 0 genome.wustl.edu 37 X 119387298 119387298 + Missense_Mutation SNP A A C TCGA-AB-2935-03A-01W-0755-09 TCGA-AB-2935-11A-01W-0755-09 A A A C A A Verified Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq 1 dbGAP Illumina HiSeq a95d9260-b4d0-4b95-bfea-c605f940688c d4bd29d6-e3ec-4007-82cf-10f0b87caaae X 119271326 119271326 A C SNP ZBTB33 NM_006777.3 human genbank 54_36p +1 validated missense c.28 p.T10P 1.000 superfamily_POZ domain HMMSmart_SM00225,HMMPfam_zf-C2H2,PatternScan_ZINC_FINGER_C2H2_1,superfamily_POZ domain,HMMPfam_BTB,HMMSmart_SM00355,superfamily_C2H2 and C2HC zinc fingers - no_errors 122 2 1.61 47 63 57.27 1 19 95.00 +GJB3 0 genome.wustl.edu 37 1 35250792 35250792 + Missense_Mutation SNP C C G TCGA-AB-2935-03A-01W-0755-09 TCGA-AB-2935-11A-01W-0755-09 C C C G C C Verified Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq 1 dbGAP Illumina HiSeq a95d9260-b4d0-4b95-bfea-c605f940688c d4bd29d6-e3ec-4007-82cf-10f0b87caaae 1 35023379 35023379 C G SNP GJB3 NM_001005752.1 human genbank 54_36p +1 reviewed missense c.429 p.F143L 0.072 HMMPfam_Connexin_CCC HMMPfam_Connexin,HMMSmart_SM00037,PatternScan_CONNEXINS_1,PatternScan_CONNEXINS_2,HMMPfam_Connexin_CCC - no_errors 264 2 0.75 396 148 26.81 0 1 100.00 +CAMKV 0 genome.wustl.edu 37 3 49896767 49896767 + Missense_Mutation SNP C C T TCGA-AB-2935-03A-01W-0755-09 TCGA-AB-2935-11A-01W-0755-09 C C C T C C Verified Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq 1 dbGAP Illumina HiSeq a95d9260-b4d0-4b95-bfea-c605f940688c d4bd29d6-e3ec-4007-82cf-10f0b87caaae 3 49871771 49871771 C T SNP CAMKV NM_024046.3 human genbank 54_36p -1 validated missense c.1490 p.R497K 0.693 NULL HMMSmart_SM00219,HMMSmart_SM00220,superfamily_Protein kinase-like (PK-like),HMMPfam_Pkinase - no_errors 82 0 0.00 137 58 29.29 NA NA NA +LOC441013 0 genome.wustl.edu 37 4 43412358 43412358 + RNA SNP G G A TCGA-AB-2935-03A-01W-0755-09 TCGA-AB-2935-11A-01W-0755-09 G G G A G G Verified Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq 1 dbGAP Illumina HiSeq a95d9260-b4d0-4b95-bfea-c605f940688c d4bd29d6-e3ec-4007-82cf-10f0b87caaae 4 43107115 43107115 G A SNP LOC441013 XR_016299.2 human genbank 54_36p -1 model rna NULL NULL 1.000 - - - pseudogene 113 1 0.88 209 79 27.34 NA NA NA +ALOX5 0 genome.wustl.edu 37 10 45938939 45938939 + Silent SNP C C T TCGA-AB-2935-03A-01W-0755-09 TCGA-AB-2935-11A-01W-0755-09 C C C T C C Verified Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq 1 dbGAP Illumina HiSeq a95d9260-b4d0-4b95-bfea-c605f940688c d4bd29d6-e3ec-4007-82cf-10f0b87caaae 10 45258945 45258945 C T SNP ALOX5 NM_000698.2 human genbank 54_36p +1 reviewed silent c.1527 p.F509 0.944 HMMPfam_Lipoxygenase,superfamily_Lipoxygenase HMMPfam_PLAT,HMMSmart_LH2,superfamily_Lipase_LipOase,HMMPfam_Lipoxygenase,PatternScan_LIPOXYGENASE_2,PatternScan_LIPOXYGENASE_1,superfamily_Lipoxygenase - no_errors 36 0 0.00 124 45 26.32 30 15 32.61 +LOC387703 0 genome.wustl.edu 37 10 94966689 94966689 + RNA SNP G G A TCGA-AB-2935-03A-01W-0755-09 TCGA-AB-2935-11A-01W-0755-09 G G G A G G Verified Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq 1 dbGAP Illumina HiSeq a95d9260-b4d0-4b95-bfea-c605f940688c d4bd29d6-e3ec-4007-82cf-10f0b87caaae 10 94956679 94956679 G A SNP LOC387703 XR_016730.2 human genbank 54_36p -1 model rna NULL NULL 0.943 - - - pseudogene 201 3 1.46 410 277 39.86 NA NA NA +ANO3 0 genome.wustl.edu 37 11 26663484 26663484 + Missense_Mutation SNP G G C TCGA-AB-2935-03A-01W-0755-09 TCGA-AB-2935-11A-01W-0755-09 G G G C G G Verified Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq 1 dbGAP Illumina HiSeq a95d9260-b4d0-4b95-bfea-c605f940688c d4bd29d6-e3ec-4007-82cf-10f0b87caaae 11 26620060 26620060 G C SNP ANO3 NM_031418.2 human genbank 54_36p +1 validated missense c.2183 p.G728A 0.983 HMMPfam_DUF590 HMMPfam_DUF590 - no_errors 283 0 0.00 364 144 28.24 NA NA NA +FREM2 0 genome.wustl.edu 37 13 39452970 39452970 + Silent SNP C C T TCGA-AB-2935-03A-01W-0755-09 TCGA-AB-2935-11A-01W-0755-09 C C C T C C Verified Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq 1 dbGAP Illumina HiSeq a95d9260-b4d0-4b95-bfea-c605f940688c d4bd29d6-e3ec-4007-82cf-10f0b87caaae 13 38350970 38350970 C T SNP FREM2 NM_207361.4 human genbank 54_36p +1 reviewed silent c.8862 p.D2954 1.000 NULL HMMPfam_Calx-beta,HMMSmart_SM00237 - no_errors 184 1 0.54 208 75 26.41 NA NA NA +HERC2 0 genome.wustl.edu 37 15 28389253 28389253 + Missense_Mutation SNP G G T TCGA-AB-2935-03A-01W-0755-09 TCGA-AB-2935-11A-01W-0755-09 G G G T G G Verified Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq 1 dbGAP Illumina HiSeq a95d9260-b4d0-4b95-bfea-c605f940688c d4bd29d6-e3ec-4007-82cf-10f0b87caaae 15 26062848 26062848 G T SNP HERC2 NM_004667.4 human genbank 54_36p -1 validated missense c.11269 p.L3757M 0.998 NULL HMMPfam_RCC1,PatternScan_RCC1_2,HMMPfam_ZZ,HMMSmart_SM00291,PatternScan_ZF_ZZ_1,HMMPfam_HECT,HMMSmart_SM00119,superfamily_Hect E3 ligase catalytic domain,HMMPfam_Cyt-b5,superfamily_Cytochrome b5-like heme/steroid binding domain,HMMSmart_SM00706,superfamily_Galactose-binding domain-like,superfamily_RCC1/BLIP-II,HMMPfam_MIB_HERC2,PatternScan_PROTEIN_KINASE_ATP - no_errors 109 0 0.00 185 71 27.73 24 14 36.84 +TP53 0 genome.wustl.edu 37 17 7577538 7577538 + Missense_Mutation SNP C C T TCGA-AB-2935-03A-01W-0755-09 TCGA-AB-2935-11A-01W-0755-09 C C C T C C Verified Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq 1 dbGAP Illumina HiSeq a95d9260-b4d0-4b95-bfea-c605f940688c d4bd29d6-e3ec-4007-82cf-10f0b87caaae 17 7518263 7518263 C T SNP TP53 NM_000546.4 human genbank 54_36p -1 reviewed missense c.743 p.R248Q 1.000 PatternScan_P53,superfamily_p53-like transcription factors,HMMPfam_P53 PatternScan_P53,superfamily_p53-like transcription factors,HMMPfam_P53_tetramer,superfamily_p53 tetramerization domain,HMMPfam_P53,HMMPfam_P53_TAD - no_errors 254 5 1.93 321 283 46.47 14 79 84.95 +ZNF229 0 genome.wustl.edu 37 19 44933535 44933535 + Missense_Mutation SNP G G C TCGA-AB-2935-03A-01W-0755-09 TCGA-AB-2935-11A-01W-0755-09 G G G C G G Verified Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq 1 dbGAP Illumina HiSeq a95d9260-b4d0-4b95-bfea-c605f940688c d4bd29d6-e3ec-4007-82cf-10f0b87caaae 19 49625375 49625375 G C SNP ZNF229 NM_014518.2 human genbank 54_36p -1 validated missense c.1421 p.S474C 0.205 HMMPfam_zf-C2H2,PatternScan_ZINC_FINGER_C2H2_1,HMMSmart_SM00355,superfamily_C2H2 and C2HC zinc fingers HMMPfam_KRAB,HMMSmart_SM00349,superfamily_KRAB domain (Kruppel-associated box Pfam 01352),HMMPfam_zf-C2H2,PatternScan_ZINC_FINGER_C2H2_1,HMMSmart_SM00355,superfamily_C2H2 and C2HC zinc fingers - no_errors 206 0 0.00 276 135 32.61 4 2 33.33 +RIN2 0 genome.wustl.edu 37 20 19956215 19956215 + Missense_Mutation SNP C C T TCGA-AB-2935-03A-01W-0755-09 TCGA-AB-2935-11A-01W-0755-09 C C C T C C Verified Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq 1 dbGAP Illumina HiSeq a95d9260-b4d0-4b95-bfea-c605f940688c d4bd29d6-e3ec-4007-82cf-10f0b87caaae 20 19904215 19904215 C T SNP RIN2 NM_018993.2 human genbank 54_36p +1 reviewed missense c.1546 p.R516C 0.801 NULL HMMPfam_RA,HMMSmart_SM00314,HMMPfam_VPS9,HMMSmart_SM00167,superfamily_VPS9 domain (Pfam 02204),superfamily_SH2 domain - no_errors 67 0 0.00 198 78 28.26 6 6 50.00 +TCEAL6 0 genome.wustl.edu 37 X 101396081 101396081 + Nonsense_Mutation SNP C C A TCGA-AB-2936-03A-01W-0745-08 TCGA-AB-2936-11A-01W-0745-08 C C C A C C Verified Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq 1 dbGAP Illumina HiSeq 0194977a-f658-4a23-8913-4a4797b16698 b592578a-da5c-4b13-9938-ec6c13f7ec50 X 101282737 101282737 C A SNP TCEAL6 NM_001006938.2 human genbank 54_36p -1 validated nonsense c.223 p.E75* 0.009 HMMPfam_TFA HMMPfam_TFA - no_errors 339 10 2.86 82 61 42.36 1 0 0.00 +NXF2B 0 genome.wustl.edu 37 X 101624925 101624925 + Silent SNP G G A TCGA-AB-2936-03A-01W-0745-08 TCGA-AB-2936-11A-01W-0745-08 G G G A G G Verified Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq 1 dbGAP Illumina HiSeq 0194977a-f658-4a23-8913-4a4797b16698 b592578a-da5c-4b13-9938-ec6c13f7ec50 X 101511581 101511581 G A SNP NXF2B NM_001099686.1 human genbank 54_36p -1 inferred silent c.192 p.S64 0.000 NULL HMMPfam_NTF2,HMMPfam_TAP_C,HMMSmart_TAP_C,superfamily_UBA_like,HMMPfam_Tap-RNA_bind,superfamily_SSF52058,superfamily_SSF54427,superfamily_SSF54928 - no_errors 186 1 0.53 11 8 42.11 NA NA NA +WDR64 0 genome.wustl.edu 37 1 241912982 241912982 + Silent SNP G G C TCGA-AB-2936-03A-01W-0745-08 TCGA-AB-2936-11A-01W-0745-08 G G G C G G Verified Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq 1 dbGAP Illumina HiSeq 0194977a-f658-4a23-8913-4a4797b16698 b592578a-da5c-4b13-9938-ec6c13f7ec50 1 239979605 239979605 G C SNP WDR64 NM_144625.3 human genbank 54_36p +1 validated silent c.858 p.L286 0.030 superfamily_WD40 repeat-like HMMSmart_SM00320,superfamily_WD40 repeat-like,HMMPfam_WD40 - no_errors 856 7 0.81 82 58 41.43 NA NA NA +CAMK4 0 genome.wustl.edu 37 5 110710562 110710562 + Silent SNP C C T TCGA-AB-2936-03A-01W-0745-08 TCGA-AB-2936-11A-01W-0745-08 C C C T C C Verified Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq 1 dbGAP Illumina HiSeq 0194977a-f658-4a23-8913-4a4797b16698 b592578a-da5c-4b13-9938-ec6c13f7ec50 5 110738461 110738461 C T SNP CAMK4 NM_001744.3 human genbank 54_36p +1 reviewed silent c.255 p.I85 0.982 HMMSmart_S_TKc,superfamily_Kinase_like,HMMPfam_Pkinase HMMSmart_S_TKc,PatternScan_PROTEIN_KINASE_ST,superfamily_Kinase_like,PatternScan_PROTEIN_KINASE_ATP,HMMPfam_Pkinase - no_errors 703 10 1.38 70 69 49.64 16 0 0.00 +C7orf10 0 genome.wustl.edu 37 7 40234648 40234648 + Missense_Mutation SNP G G T TCGA-AB-2936-03A-01W-0745-08 TCGA-AB-2936-11A-01W-0745-08 G G G T G G Verified Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq 1 dbGAP Illumina HiSeq 0194977a-f658-4a23-8913-4a4797b16698 b592578a-da5c-4b13-9938-ec6c13f7ec50 7 40201173 40201173 G T SNP C7orf10 NM_024728.1 human genbank 54_36p +1 predicted missense c.383 p.C128F 1.000 HMMPfam_CoA_transf_3,superfamily_CoA-Trfase_fam_III HMMPfam_CoA_transf_3,superfamily_CoA-Trfase_fam_III - no_errors 562 18 3.05 70 30 29.70 NA NA NA +NRF1 0 genome.wustl.edu 37 7 129348924 129348924 + Missense_Mutation SNP C C T TCGA-AB-2936-03A-01W-0745-08 TCGA-AB-2936-11A-01W-0745-08 C C C T C C Verified Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq 1 dbGAP Illumina HiSeq 0194977a-f658-4a23-8913-4a4797b16698 b592578a-da5c-4b13-9938-ec6c13f7ec50 7 129136160 129136160 C T SNP NRF1 NM_001040110.1 human genbank 54_36p +1 reviewed missense c.616 p.R206W 1.000 HMMPfam_Nrf1_DNA-bind HMMPfam_Nrf1_DNA-bind,HMMPfam_Nrf1_activ_bdg - no_errors 723 20 2.68 90 47 33.81 20 26 56.52 +IDH2 0 genome.wustl.edu 37 15 90631934 90631934 + Missense_Mutation SNP C C T rs121913502 TCGA-AB-2936-03A-01W-0745-08 TCGA-AB-2936-11A-01W-0745-08 C C C T C C Verified Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq 1 dbGAP Illumina HiSeq 0194977a-f658-4a23-8913-4a4797b16698 b592578a-da5c-4b13-9938-ec6c13f7ec50 15 88432938 88432938 C T SNP IDH2 NM_002168.2 human genbank 54_36p -1 reviewed missense c.419 p.R140Q 1.000 HMMPfam_Iso_dh,superfamily_Isocitrate/Isopropylmalate dehydrogenase-like HMMPfam_Iso_dh,PatternScan_IDH_IMDH,superfamily_Isocitrate/Isopropylmalate dehydrogenase-like - no_errors 339 9 2.55 28 18 39.13 162 154 48.73 +ACTL9 0 genome.wustl.edu 37 19 8808551 8808551 + Silent SNP G G A TCGA-AB-2936-03A-01W-0745-08 TCGA-AB-2936-11A-01W-0745-08 G G G A G G Verified Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq 1 dbGAP Illumina HiSeq 0194977a-f658-4a23-8913-4a4797b16698 b592578a-da5c-4b13-9938-ec6c13f7ec50 19 8669551 8669551 G A SNP MGC33407 NM_178525.3 human genbank 54_36p -1 validated silent c.501 p.F167 1.000 HMMPfam_Actin,HMMSmart_SM00268,superfamily_Actin-like ATPase domain PatternScan_N6_MTASE,HMMPfam_Actin,HMMSmart_SM00268,superfamily_Actin-like ATPase domain - no_errors 171 3 1.71 21 18 46.15 NA NA NA +COL5A3 0 genome.wustl.edu 37 19 10088363 10088363 + Silent SNP C C T TCGA-AB-2936-03A-01W-0745-08 TCGA-AB-2936-11A-01W-0745-08 C C C T C C Verified Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq 1 dbGAP Illumina HiSeq 0194977a-f658-4a23-8913-4a4797b16698 b592578a-da5c-4b13-9938-ec6c13f7ec50 19 9949363 9949363 C T SNP COL5A3 NM_015719.3 human genbank 54_36p -1 reviewed silent c.3033 p.E1011 1.000 NULL HMMPfam_COLFI,HMMSmart_SM00038,HMMSmart_SM00210,HMMPfam_Collagen,superfamily_Concanavalin A-like lectins/glucanases,HMMPfam_Laminin_G_2 - no_errors 1196 27 2.19 80 68 45.95 NA NA NA +RUNX1 0 genome.wustl.edu 37 21 36171607 36171607 + Nonsense_Mutation SNP G G A TCGA-AB-2936-03A-01W-0745-08 TCGA-AB-2936-11A-01W-0745-08 G G G A G G Verified Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq 1 dbGAP Illumina HiSeq 0194977a-f658-4a23-8913-4a4797b16698 b592578a-da5c-4b13-9938-ec6c13f7ec50 21 35093477 35093477 G A SNP RUNX1 NM_001754.2 human genbank 54_36p -1 reviewed nonsense c.958 p.R320* 1.000 NULL superfamily_p53-like transcription factors,HMMPfam_Runt,HMMPfam_RunxI - no_errors 218 1 0.45 30 11 26.83 701 275 28.12 +KIT 0 genome.wustl.edu 37 4 55599321 55599321 + Missense_Mutation SNP A A T rs121913507 TCGA-AB-2937-03A-01W-0732-08 TCGA-AB-2937-11A-01W-0732-08 A A A T A A Verified Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq 1 dbGAP Illumina HiSeq d17268d0-1552-418e-9118-b9b313b54d37 d44fcf31-c277-461d-bdab-b952d2e14bb0 4 55294078 55294078 A T SNP KIT NM_000222.2 human genbank 54_36p +1 reviewed missense c.2447 p.D816V 1.000 HMMPfam_Pkinase_Tyr,HMMSmart_TyrKc,superfamily_Kinase_like HMMPfam_Pkinase_Tyr,HMMSmart_TyrKc,PatternScan_RECEPTOR_TYR_KIN_III,HMMSmart_IGc2,HMMSmart_IG,PatternScan_PROTEIN_KINASE_TYR,superfamily_Kinase_like,HMMPfam_ig,PatternScan_PROTEIN_KINASE_ATP,superfamily_SSF48726 - no_errors 54 2 3.57 35 28 44.44 44 49 52.69 +C2 0 genome.wustl.edu 37 6 31901543 31901543 + Missense_Mutation SNP C C T TCGA-AB-2937-03A-01W-0732-08 TCGA-AB-2937-11A-01W-0732-08 C C C T C C Verified Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq 1 dbGAP Illumina HiSeq d17268d0-1552-418e-9118-b9b313b54d37 d44fcf31-c277-461d-bdab-b952d2e14bb0 6 32009522 32009522 C T SNP C2 NM_000063.4 human genbank 54_36p +1 reviewed missense c.599 p.T200M 0.933 HMMPfam_Sushi,HMMSmart_SM00032,superfamily_Complement control module/SCR domain HMMPfam_Sushi,HMMSmart_SM00032,HMMPfam_Trypsin,HMMSmart_SM00020,HMMPfam_VWA,HMMSmart_SM00327,superfamily_Trypsin-like serine proteases,superfamily_Complement control module/SCR domain,PatternScan_TRYPSIN_HIS,PatternScan_TRYPSIN_SER,superfamily_vWA-like - no_errors 99 2 1.98 15 22 59.46 5 0 0.00 +GPR115 0 genome.wustl.edu 37 6 47681801 47681801 + Nonsense_Mutation SNP C C T TCGA-AB-2937-03A-01W-0732-08 TCGA-AB-2937-11A-01W-0732-08 C C C T C C Verified Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq 1 dbGAP Illumina HiSeq d17268d0-1552-418e-9118-b9b313b54d37 d44fcf31-c277-461d-bdab-b952d2e14bb0 6 47789760 47789760 C T SNP GPR115 NM_153838.3 human genbank 54_36p +1 validated nonsense c.820 p.Q274* 0.042 NULL HMMPfam_7tm_2 - no_errors 156 7 4.29 36 24 40.00 NA NA NA +WBSCR17 0 genome.wustl.edu 37 7 71130529 71130529 + Nonsense_Mutation SNP G G A TCGA-AB-2937-03A-01W-0732-08 TCGA-AB-2937-11A-01W-0732-08 G G G A G G Verified Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq 1 dbGAP Illumina HiSeq d17268d0-1552-418e-9118-b9b313b54d37 d44fcf31-c277-461d-bdab-b952d2e14bb0 7 70768465 70768465 G A SNP WBSCR17 NM_022479.1 human genbank 54_36p +1 reviewed nonsense c.1214 p.W405* 1.000 superfamily_Nucleotide-diphospho-sugar transferases HMMPfam_Ricin_B_lectin,HMMSmart_SM00458,HMMPfam_Glycos_transf_2,superfamily_Ricin B-like lectins,superfamily_Nucleotide-diphospho-sugar transferases - no_errors 259 9 3.36 49 36 42.35 NA NA NA +GSTK1 0 genome.wustl.edu 37 7 142960614 142960614 + Missense_Mutation SNP C C A TCGA-AB-2937-03A-01W-0732-08 TCGA-AB-2937-11A-01W-0732-08 C C C A C C Verified Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq 1 dbGAP Illumina HiSeq d17268d0-1552-418e-9118-b9b313b54d37 d44fcf31-c277-461d-bdab-b952d2e14bb0 7 142670736 142670736 C A SNP GSTK1 NM_015917.1 human genbank 54_36p +1 reviewed missense c.8 p.P3H 0.294 superfamily_Thioredoxin-like HMMPfam_DSBA,superfamily_Thioredoxin-like - no_errors 103 2 1.90 24 21 46.67 156 103 39.77 +ZFHX4 0 genome.wustl.edu 37 8 77764108 77764108 + Missense_Mutation SNP G G C TCGA-AB-2937-03A-01W-0732-08 TCGA-AB-2937-11A-01W-0732-08 G G G C G G Verified Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq 1 dbGAP Illumina HiSeq d17268d0-1552-418e-9118-b9b313b54d37 d44fcf31-c277-461d-bdab-b952d2e14bb0 8 77926663 77926663 G C SNP ZFHX4 NM_024721.3 human genbank 54_36p +1 validated missense c.4816 p.D1606H 0.990 NULL HMMPfam_Homeobox,HMMSmart_SM00389,HMMSmart_SM00451,HMMPfam_zf-C2H2,PatternScan_ZINC_FINGER_C2H2_1,superfamily_Homeodomain-like,HMMSmart_SM00355,PatternScan_HOMEOBOX_1,PatternScan_SOMATOTROPIN_2,superfamily_C2H2 and C2HC zinc fingers - no_errors 290 5 1.69 73 51 41.13 NA NA NA +TMTC4 0 genome.wustl.edu 37 13 101277848 101277848 + Missense_Mutation SNP G G A TCGA-AB-2937-03A-01W-0732-08 TCGA-AB-2937-11A-01W-0732-08 G G G A G G Verified Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq 1 dbGAP Illumina HiSeq d17268d0-1552-418e-9118-b9b313b54d37 d44fcf31-c277-461d-bdab-b952d2e14bb0 13 100075849 100075849 G A SNP TMTC4 NM_032813.1 human genbank 54_36p -1 validated missense c.1777 p.R593W 1.000 HMMPfam_TPR_1,HMMSmart_SM00028,superfamily_TPR-like HMMPfam_TPR_1,HMMPfam_TPR_2,HMMPfam_DUF1736,HMMSmart_SM00028,superfamily_TPR-like - no_errors 282 17 5.69 65 42 39.25 9 9 50.00 +DNAH9 0 genome.wustl.edu 37 17 11554599 11554599 + Missense_Mutation SNP C C T TCGA-AB-2937-03A-01W-0732-08 TCGA-AB-2937-11A-01W-0732-08 C C C T C C Verified Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq 1 dbGAP Illumina HiSeq d17268d0-1552-418e-9118-b9b313b54d37 d44fcf31-c277-461d-bdab-b952d2e14bb0 17 11495324 11495324 C T SNP DNAH9 NM_001372.3 human genbank 54_36p +1 reviewed missense c.2311 p.R771C 0.002 HMMPfam_DHC_N1 HMMSmart_SM00382,HMMPfam_Dynein_heavy,PatternScan_CPSASE_2,HMMPfam_AAA_5,HMMPfam_DHC_N1,HMMPfam_DHC_N2,superfamily_Spectrin repeat,superfamily_P-loop containing nucleoside triphosphate hydrolases - no_errors 148 4 2.63 31 29 48.33 NA NA NA +RNF213 0 genome.wustl.edu 37 17 78321433 78321433 + Missense_Mutation SNP G G C TCGA-AB-2937-03A-01W-0732-08 TCGA-AB-2937-11A-01W-0732-08 G G G C G G Verified Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq 1 dbGAP Illumina HiSeq d17268d0-1552-418e-9118-b9b313b54d37 d44fcf31-c277-461d-bdab-b952d2e14bb0 17 75936028 75936028 G C SNP RNF213 NM_020914.3 human genbank 54_36p +1 validated missense c.3517 p.V1173L 1.000 NULL HMMSmart_SM00184,HMMSmart_SM00382,HMMPfam_zf-C3HC4,superfamily_P-loop containing nucleoside triphosphate hydrolases,superfamily_RING/U-box - no_errors 65 2 2.99 22 10 31.25 40 31 43.66 +TET2 0 genome.wustl.edu 37 4 106155474 106155474 + Frame_Shift_Del DEL C C - TCGA-AB-2937-03A-01W-0732-08 TCGA-AB-2937-11A-01W-0732-08 C C C - C C Verified Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq 1 dbGAP Illumina HiSeq d17268d0-1552-418e-9118-b9b313b54d37 d44fcf31-c277-461d-bdab-b952d2e14bb0 4 106374923 106374923 C - DEL TET2 NM_017628.1 human genbank 54_36p +1 validated frame_shift_del c.375 p.F125fs 0.600 NULL NULL - no_errors 0 0 0.00 1 3 60.00 0 12 75.00 +HNRNPK 0 genome.wustl.edu 37 9 86591908 86591909 + Splice_Site INS - - T TCGA-AB-2937-03A-01W-0732-08 TCGA-AB-2937-11A-01W-0732-08 - - - T - - Verified Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq 1 dbGAP Illumina HiSeq d17268d0-1552-418e-9118-b9b313b54d37 d44fcf31-c277-461d-bdab-b952d2e14bb0 9 85781728 85781729 - T INS HNRNPK NM_002140.3 human genbank 54_36p -1 reviewed splice_site_ins c.213+1_213+1 e3+1 1.000:1.000 - - - no_errors 55 0 0.00 36 20 35.71 15 33 68.75 +HNRNPK 0 genome.wustl.edu 37 9 86591909 86591910 + Frame_Shift_Ins INS - - TA TCGA-AB-2937-03A-01W-0732-08 TCGA-AB-2937-11A-01W-0732-08 - - - TA - - Verified Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq 1 dbGAP Illumina HiSeq d17268d0-1552-418e-9118-b9b313b54d37 d44fcf31-c277-461d-bdab-b952d2e14bb0 9 85781729 85781730 - TA INS HNRNPK NM_002140.3 human genbank 54_36p -1 reviewed frame_shift_ins c.214_213 p.N72fs 1.000:1.000 HMMSmart_SM00322,HMMPfam_KH_1,superfamily_Eukaryotic type KH-domain (KH-domain type I) HMMSmart_SM00322,HMMPfam_ROKNT,HMMPfam_KH_1,superfamily_Eukaryotic type KH-domain (KH-domain type I) - no_errors 56 0 0.00 36 20 35.71 52 0 0.00 +HDGF 0 genome.wustl.edu 37 1 156713596 156713596 + Silent SNP C C T TCGA-AB-2938-03A-01W-0732-08 TCGA-AB-2938-11A-01W-0732-08 C C C T C C Verified Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq 1 dbGAP Illumina HiSeq d0b06a0b-9181-44ad-ad12-c9d1ca414e29 f82130cf-0cf8-40b7-a102-d1238eca7f06 1 154980220 154980220 C T SNP HDGF NM_004494.1 human genbank 54_36p -1 reviewed silent c.564 p.E188 0.286 NULL HMMPfam_PWWP,HMMSmart_PWWP,superfamily_SSF63748 - no_errors 254 0 0.00 110 32 22.07 268 330 55.18 +ROBO2 0 genome.wustl.edu 37 3 75986741 75986741 + Missense_Mutation SNP G G A TCGA-AB-2938-03A-01W-0732-08 TCGA-AB-2938-11A-01W-0732-08 G G G A G G Verified Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq 1 dbGAP Illumina HiSeq d0b06a0b-9181-44ad-ad12-c9d1ca414e29 f82130cf-0cf8-40b7-a102-d1238eca7f06 3 76069431 76069431 G A SNP ROBO2 ENST00000403211 human ensembl 54_36p +1 known missense c.97 p.G33R 0.742 NULL HMMSmart_IGc2,HMMPfam_fn3,HMMSmart_FN3,superfamily_FN_III-like,HMMPfam_I-set,superfamily_SSF48726 - no_stop_codon:overly_large_intron 161 0 0.00 291 59 16.86 NA NA NA +PIK3CB 0 genome.wustl.edu 37 3 138474789 138474789 + Missense_Mutation SNP C C T TCGA-AB-2938-03A-01W-0732-08 TCGA-AB-2938-11A-01W-0732-08 C C C T C C Verified Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq 1 dbGAP Illumina HiSeq d0b06a0b-9181-44ad-ad12-c9d1ca414e29 f82130cf-0cf8-40b7-a102-d1238eca7f06 3 139957479 139957479 C T SNP PIK3CB NM_006219.1 human genbank 54_36p -1 provisional missense c.204 p.M68I 1.000 HMMPfam_PI3K_p85B,HMMSmart_PI3K_p85B HMMPfam_PI3K_rbd,HMMSmart_PI3K_rbd,HMMPfam_PI3_PI4_kinase,HMMSmart_PI3Kc,HMMPfam_PI3Ka,HMMSmart_PI3Ka,HMMPfam_PI3K_C2,HMMSmart_PI3K_C2,HMMPfam_PI3K_p85B,HMMSmart_PI3K_p85B,superfamily_C2_CaLB,superfamily_Kinase_like,superfamily_ARM-type_fold,PatternScan_PI3_4_KINASE_1,PatternScan_PI3_4_KINASE_2,superfamily_SSF54236 - no_errors 78 0 0.00 104 40 27.59 106 103 49.28 +SORBS2 0 genome.wustl.edu 37 4 186544675 186544675 + Silent SNP G G A TCGA-AB-2938-03A-01W-0732-08 TCGA-AB-2938-11A-01W-0732-08 G G G A G G Verified Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq 1 dbGAP Illumina HiSeq d0b06a0b-9181-44ad-ad12-c9d1ca414e29 f82130cf-0cf8-40b7-a102-d1238eca7f06 4 186781669 186781669 G A SNP SORBS2 NM_021069.1 human genbank 54_36p -1 reviewed silent c.1896 p.S632 0.811 NULL HMMPfam_SH3_1,HMMSmart_SM00326,superfamily_SH3-domain,HMMPfam_Sorb,HMMSmart_SM00459,PatternScan_ZINC_FINGER_C2H2_1 - no_errors 42 0 0.00 38 14 26.92 0 0 0.00 +VARS2 0 genome.wustl.edu 37 6 30887907 30887907 + Missense_Mutation SNP G G A TCGA-AB-2938-03A-01W-0732-08 TCGA-AB-2938-11A-01W-0732-08 G G G A G G Verified Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq 1 dbGAP Illumina HiSeq d0b06a0b-9181-44ad-ad12-c9d1ca414e29 f82130cf-0cf8-40b7-a102-d1238eca7f06 6 30995886 30995886 G A SNP VARS2 NM_020442.3 human genbank 54_36p +1 provisional missense c.1207 p.E403K 0.997 HMMPfam_tRNA-synt_1,superfamily_ValRS/IleRS/LeuRS editing domain,superfamily_Nucleotidylyl transferase PatternScan_AA_TRNA_LIGASE_I,HMMPfam_tRNA-synt_1,superfamily_ValRS/IleRS/LeuRS editing domain,superfamily_Anticodon-binding domain of a subclass of class I aminoacyl-tRNA synthetases,HMMPfam_Anticodon_1,superfamily_Nucleotidylyl transferase - no_errors 75 0 0.00 56 19 25.33 13 4 23.53 +TTBK1 0 genome.wustl.edu 37 6 43223370 43223370 + Missense_Mutation SNP G G T TCGA-AB-2938-03A-01W-0732-08 TCGA-AB-2938-11A-01W-0732-08 G G G T G G Verified Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq 1 dbGAP Illumina HiSeq d0b06a0b-9181-44ad-ad12-c9d1ca414e29 f82130cf-0cf8-40b7-a102-d1238eca7f06 6 43331348 43331348 G T SNP TTBK1 NM_032538.1 human genbank 54_36p +1 validated missense c.723 p.K241N 1.000 HMMSmart_SM00219,HMMSmart_SM00220,superfamily_Protein kinase-like (PK-like) HMMSmart_SM00219,HMMSmart_SM00220,superfamily_Protein kinase-like (PK-like),PatternScan_PROTEIN_KINASE_ATP,HMMPfam_Pkinase - no_errors 97 0 0.00 38 10 20.83 NA NA NA +LOC727842 0 genome.wustl.edu 37 6 58446138 58446138 + RNA SNP G G T TCGA-AB-2938-03A-01W-0732-08 TCGA-AB-2938-11A-01W-0732-08 G G G T G G Verified Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq 1 dbGAP Illumina HiSeq d0b06a0b-9181-44ad-ad12-c9d1ca414e29 f82130cf-0cf8-40b7-a102-d1238eca7f06 6 58554097 58554097 G T SNP LOC727842 XR_015140.2 human genbank 54_36p -1 model rna NULL NULL 1.000 - - - pseudogene 93 0 0.00 69 27 27.84 NA NA NA +CCZ1 0 genome.wustl.edu 37 7 5942327 5942327 + Silent SNP C C T TCGA-AB-2938-03A-01W-0732-08 TCGA-AB-2938-11A-01W-0732-08 C C C T C C Verified Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq 1 dbGAP Illumina HiSeq d0b06a0b-9181-44ad-ad12-c9d1ca414e29 f82130cf-0cf8-40b7-a102-d1238eca7f06 7 5908853 5908853 C T SNP C7orf28A NM_015622.5 human genbank 54_36p +1 validated silent c.474 p.D158 1.000 HMMPfam_DUF2049 HMMPfam_DUF2049 - no_errors 37 0 0.00 72 20 21.74 13 1 7.14 +CUL1 0 genome.wustl.edu 37 7 148457522 148457522 + Missense_Mutation SNP G G T TCGA-AB-2938-03A-01W-0732-08 TCGA-AB-2938-11A-01W-0732-08 G G G T G G Verified Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq 1 dbGAP Illumina HiSeq d0b06a0b-9181-44ad-ad12-c9d1ca414e29 f82130cf-0cf8-40b7-a102-d1238eca7f06 7 148088455 148088455 G T SNP CUL1 NM_003592.2 human genbank 54_36p +1 validated missense c.723 p.E241D 0.997 HMMPfam_Cullin,superfamily_Cullin repeat HMMPfam_Cullin,PatternScan_CULLIN_1,HMMSmart_SM00182,superfamily_Cullin homology domain,superfamily_Cullin repeat,HMMPfam_Cullin_Nedd8,superfamily_"Winged helix" DNA-binding domain - no_errors 53 0 0.00 49 27 35.53 14 11 44.00 +DLC1 0 genome.wustl.edu 37 8 12952666 12952666 + Missense_Mutation SNP G G A TCGA-AB-2938-03A-01W-0732-08 TCGA-AB-2938-11A-01W-0732-08 G G G A G G Verified Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq 1 dbGAP Illumina HiSeq d0b06a0b-9181-44ad-ad12-c9d1ca414e29 f82130cf-0cf8-40b7-a102-d1238eca7f06 8 12997037 12997037 G A SNP DLC1 NM_182643.3 human genbank 54_36p -1 reviewed missense c.3256 p.R1086C 1.000 superfamily_GTPase activation domain GAP HMMPfam_RhoGAP,HMMSmart_SM00324,HMMPfam_START,HMMSmart_SM00234,superfamily_GTPase activation domain GAP,HMMPfam_SAM_2,superfamily_Bet v1-like - no_errors 107 0 0.00 51 26 33.77 109 95 46.34 +CAMSAP1 0 genome.wustl.edu 37 9 138714500 138714500 + Silent SNP T T C TCGA-AB-2938-03A-01W-0732-08 TCGA-AB-2938-11A-01W-0732-08 T T T C T T Verified Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq 1 dbGAP Illumina HiSeq d0b06a0b-9181-44ad-ad12-c9d1ca414e29 f82130cf-0cf8-40b7-a102-d1238eca7f06 9 137854321 137854321 T C SNP CAMSAP1 NM_015447.3 human genbank 54_36p -1 validated silent c.1173 p.P391 0.000 NULL superfamily_PRC-barrel domain,HMMPfam_DUF1781 - no_errors 22 0 0.00 37 14 26.92 13 4 23.53 +SIDT2 0 genome.wustl.edu 37 11 117063898 117063898 + Missense_Mutation SNP A A G TCGA-AB-2938-03A-01W-0732-08 TCGA-AB-2938-11A-01W-0732-08 A A A G A A Verified Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq 1 dbGAP Illumina HiSeq d0b06a0b-9181-44ad-ad12-c9d1ca414e29 f82130cf-0cf8-40b7-a102-d1238eca7f06 11 116569108 116569108 A G SNP SIDT2 NM_001040455.1 human genbank 54_36p +1 validated missense c.2135 p.N712S 1.000 NULL NULL - no_errors 44 0 0.00 40 13 24.07 60 24 28.57 +OR8B12 0 genome.wustl.edu 37 11 124412778 124412778 + Missense_Mutation SNP T T C TCGA-AB-2938-03A-01W-0732-08 TCGA-AB-2938-11A-01W-0732-08 T T T C T T Verified Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq 1 dbGAP Illumina HiSeq d0b06a0b-9181-44ad-ad12-c9d1ca414e29 f82130cf-0cf8-40b7-a102-d1238eca7f06 11 123917988 123917988 T C SNP OR8B12 NM_001005195.1 human genbank 54_36p -1 provisional missense c.773 p.Y258C 0.223 HMMPfam_7tm_1,superfamily_Family A G protein-coupled receptor-like HMMPfam_7tm_1,PatternScan_G_PROTEIN_RECEP_F1_1,superfamily_Family A G protein-coupled receptor-like - no_errors 67 0 0.00 96 27 21.77 NA NA NA +TUBA3C 0 genome.wustl.edu 37 13 19751444 19751444 + Missense_Mutation SNP G G T TCGA-AB-2938-03A-01W-0732-08 TCGA-AB-2938-11A-01W-0732-08 G G G T G G Verified Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq 1 dbGAP Illumina HiSeq d0b06a0b-9181-44ad-ad12-c9d1ca414e29 f82130cf-0cf8-40b7-a102-d1238eca7f06 13 18649444 18649444 G T SNP TUBA3C NM_006001.1 human genbank 54_36p -1 reviewed missense c.679 p.L227I 1.000 HMMPfam_Tubulin,superfamily_Tubulin nucleotide-binding domain-like HMMPfam_Tubulin,superfamily_Tubulin C-terminal domain-like,PatternScan_TUBULIN,HMMPfam_Tubulin_C,superfamily_Tubulin nucleotide-binding domain-like - no_errors 58 0 0.00 50 13 20.63 NA NA NA +NRXN3 0 genome.wustl.edu 37 14 80271522 80271522 + Missense_Mutation SNP A A G TCGA-AB-2938-03A-01W-0732-08 TCGA-AB-2938-11A-01W-0732-08 A A A G A A Verified Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq 1 dbGAP Illumina HiSeq d0b06a0b-9181-44ad-ad12-c9d1ca414e29 f82130cf-0cf8-40b7-a102-d1238eca7f06 14 79341275 79341275 A G SNP NRXN3 NM_004796.1 human genbank 54_36p +1 reviewed missense c.2873 p.E958G 0.998 NULL PatternScan_ASX_HYDROXYL,HMMSmart_LamG,HMMSmart_4.1m,HMMPfam_EGF,HMMSmart_EGF,superfamily_ConA_like_lec_gl,HMMPfam_Laminin_G_2 - no_errors 236 1 0.42 194 88 31.21 2 0 0.00 +CASC4 0 genome.wustl.edu 37 15 44695122 44695122 + Silent SNP G G A TCGA-AB-2938-03A-01W-0732-08 TCGA-AB-2938-11A-01W-0732-08 G G G A G G Verified Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq 1 dbGAP Illumina HiSeq d0b06a0b-9181-44ad-ad12-c9d1ca414e29 f82130cf-0cf8-40b7-a102-d1238eca7f06 15 42482414 42482414 G A SNP CASC4 NM_138423.2 human genbank 54_36p +1 reviewed silent c.1110 p.P370 1.000 NULL NULL - no_errors 53 0 0.00 67 32 31.68 11 22 66.67 +EDC4 0 genome.wustl.edu 37 16 67912443 67912443 + Missense_Mutation SNP C C T TCGA-AB-2938-03A-01W-0732-08 TCGA-AB-2938-11A-01W-0732-08 C C C T C C Verified Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq 1 dbGAP Illumina HiSeq d0b06a0b-9181-44ad-ad12-c9d1ca414e29 f82130cf-0cf8-40b7-a102-d1238eca7f06 16 66469944 66469944 C T SNP EDC4 NM_014329.3 human genbank 54_36p +1 validated missense c.1093 p.P365S 1.000 HMMSmart_SM00320,superfamily_WD40 repeat-like HMMSmart_SM00320,superfamily_WD40 repeat-like,HMMPfam_WD40 - no_errors 125 0 0.00 52 15 22.39 74 45 37.82 +TP53 0 genome.wustl.edu 37 17 7578394 7578394 + Missense_Mutation SNP T T C TCGA-AB-2938-03A-01W-0732-08 TCGA-AB-2938-11A-01W-0732-08 T T T C T T Verified Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq 1 dbGAP Illumina HiSeq d0b06a0b-9181-44ad-ad12-c9d1ca414e29 f82130cf-0cf8-40b7-a102-d1238eca7f06 17 7519119 7519119 T C SNP TP53 NM_000546.4 human genbank 54_36p -1 reviewed missense c.536 p.H179R 0.999 superfamily_p53-like transcription factors,HMMPfam_P53 PatternScan_P53,superfamily_p53-like transcription factors,HMMPfam_P53_tetramer,superfamily_p53 tetramerization domain,HMMPfam_P53,HMMPfam_P53_TAD - no_errors 65 0 0.00 62 91 59.09 28 160 85.11 +CD320 0 genome.wustl.edu 37 19 8369962 8369962 + Missense_Mutation SNP C C G TCGA-AB-2938-03A-01W-0732-08 TCGA-AB-2938-11A-01W-0732-08 C C C G C C Verified Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq 1 dbGAP Illumina HiSeq d0b06a0b-9181-44ad-ad12-c9d1ca414e29 f82130cf-0cf8-40b7-a102-d1238eca7f06 19 8275962 8275962 C G SNP CD320 NM_016579.2 human genbank 54_36p -1 validated missense c.221 p.C74S 0.974 HMMPfam_Ldl_recept_a,HMMSmart_LDLa,PatternScan_LDLRA_1,superfamily_LDL_rcpt_classA_cys-rich HMMPfam_Ldl_recept_a,HMMSmart_LDLa,PatternScan_LDLRA_1,superfamily_LDL_rcpt_classA_cys-rich - no_errors 35 0 0.00 21 29 58.00 11 45 80.36 +TMEM205 0 genome.wustl.edu 37 19 11456305 11456305 + Splice_Site SNP C C G TCGA-AB-2938-03A-01W-0732-08 TCGA-AB-2938-11A-01W-0732-08 C C C G C C Verified Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq 1 dbGAP Illumina HiSeq d0b06a0b-9181-44ad-ad12-c9d1ca414e29 f82130cf-0cf8-40b7-a102-d1238eca7f06 19 11317305 11317305 C G SNP TMEM205 ENST00000222124 human ensembl 54_36p -1 known splice_site c.1-1 e1-1 0.166 - - - no_errors 115 0 0.00 214 25 10.42 46 10 17.86 +PRKCG 0 genome.wustl.edu 37 19 54407970 54407970 + Missense_Mutation SNP C C T TCGA-AB-2938-03A-01W-0732-08 TCGA-AB-2938-11A-01W-0732-08 C C C T C C Verified Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq 1 dbGAP Illumina HiSeq d0b06a0b-9181-44ad-ad12-c9d1ca414e29 f82130cf-0cf8-40b7-a102-d1238eca7f06 19 59099782 59099782 C T SNP PRKCG NM_002739.3 human genbank 54_36p +1 reviewed missense c.1738 p.R580W 0.993 HMMSmart_S_TKc,superfamily_Kinase_like,HMMPfam_Pkinase HMMPfam_C2,HMMSmart_C2,HMMSmart_S_TK_X,HMMPfam_C1_1,HMMSmart_C1,PatternScan_ZF_DAG_PE_1,HMMSmart_S_TKc,PatternScan_PROTEIN_KINASE_ST,superfamily_C2_CaLB,superfamily_Kinase_like,PatternScan_PROTEIN_KINASE_ATP,HMMPfam_Pkinase,HMMPfam_Pkinase_C,superfamily_SSF57889 - no_errors 115 0 0.00 74 19 20.43 NA NA NA +DNMT3A 0 genome.wustl.edu 37 2 25470531 25470531 + Frame_Shift_Del DEL T T - TCGA-AB-2938-03A-01W-0732-08 TCGA-AB-2938-11A-01W-0732-08 T T T - T T Verified Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq 1 dbGAP Illumina HiSeq d0b06a0b-9181-44ad-ad12-c9d1ca414e29 f82130cf-0cf8-40b7-a102-d1238eca7f06 2 25324035 25324035 T - DEL DNMT3A NM_022552.3 human genbank 54_36p -1 reviewed frame_shift_del c.943 p.M315fs 1.000 HMMPfam_PWWP,HMMSmart_SM00293,superfamily_Tudor/PWWP/MBT HMMPfam_PWWP,HMMSmart_SM00293,HMMPfam_DNA_methylase,superfamily_FYVE/PHD zinc finger,PatternScan_C5_MTASE_1,superfamily_S-adenosyl-L-methionine-dependent methyltransferases,superfamily_Tudor/PWWP/MBT - no_errors 31 0 0.00 26 8 23.53 7 1 12.50 +ZNF827 0 genome.wustl.edu 37 4 146807298 146807298 + Frame_Shift_Del DEL G G - TCGA-AB-2938-03A-01W-0732-08 TCGA-AB-2938-11A-01W-0732-08 G G G - G G Verified Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq 1 dbGAP Illumina HiSeq d0b06a0b-9181-44ad-ad12-c9d1ca414e29 f82130cf-0cf8-40b7-a102-d1238eca7f06 4 147026748 147026748 G - DEL ZNF827 NM_178835.3 human genbank 54_36p -1 validated frame_shift_del c.1279 p.Q427fs 1.000 superfamily_SSF57667 HMMPfam_zf-C2H2,PatternScan_ZINC_FINGER_C2H2_1,HMMSmart_ZnF_C2H2,superfamily_SSF57667 - no_errors 97 0 0.00 82 33 28.21 10 0 0.00 +TP53 0 genome.wustl.edu 37 17 7574003 7574003 + Frame_Shift_Del DEL G G - TCGA-AB-2938-03A-01W-0732-08 TCGA-AB-2938-11A-01W-0732-08 G G G - G G Verified Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq 1 dbGAP Illumina HiSeq d0b06a0b-9181-44ad-ad12-c9d1ca414e29 f82130cf-0cf8-40b7-a102-d1238eca7f06 17 7514728 7514728 G - DEL TP53 NM_000546.4 human genbank 54_36p -1 reviewed frame_shift_del c.1024 p.R342fs 0.397 HMMPfam_P53_tetramer,superfamily_p53 tetramerization domain PatternScan_P53,superfamily_p53-like transcription factors,HMMPfam_P53_tetramer,superfamily_p53 tetramerization domain,HMMPfam_P53,HMMPfam_P53_TAD - no_errors 117 0 0.00 170 27 13.30 94 1 1.04 +FAM47A 0 genome.wustl.edu 37 X 34150073 34150073 + Missense_Mutation SNP G G A TCGA-AB-2939-03A-01W-0745-08 TCGA-AB-2939-11A-01W-0745-08 G G G A G G Verified Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq 1 dbGAP Illumina HiSeq 4cc29033-1f07-450a-8fd9-119918d41d31 ac036ed9-2075-47b8-b2bf-b7b235fdbf13 X 34059994 34059994 G A SNP FAM47A NM_203408.2 human genbank 54_36p -1 predicted missense c.323 p.S108F 0.038 NULL NULL - no_errors 41 0 0.00 10 118 91.47 NA NA NA +LOC648603 0 genome.wustl.edu 37 X 48634388 48634388 + RNA SNP C C G TCGA-AB-2939-03A-01W-0745-08 TCGA-AB-2939-11A-01W-0745-08 C C C G C C Verified Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq 1 dbGAP Illumina HiSeq 4cc29033-1f07-450a-8fd9-119918d41d31 ac036ed9-2075-47b8-b2bf-b7b235fdbf13 X 48519332 48519332 C G SNP LOC648603 XR_038238.1 human genbank 54_36p -1 model rna NULL NULL 0.000 - - - pseudogene 98 6 5.71 5 191 95.98 5 5 50.00 +C1orf51 0 genome.wustl.edu 37 1 150255858 150255858 + Missense_Mutation SNP C C A TCGA-AB-2939-03A-01W-0745-08 TCGA-AB-2939-11A-01W-0745-08 C C C A C C Verified Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq 1 dbGAP Illumina HiSeq 4cc29033-1f07-450a-8fd9-119918d41d31 ac036ed9-2075-47b8-b2bf-b7b235fdbf13 1 148522482 148522482 C A SNP C1orf51 NM_144697.2 human genbank 54_36p +1 predicted missense c.181 p.P61T 0.959 NULL NULL - no_errors 283 3 1.05 334 268 44.37 NA NA NA +MAEL 0 genome.wustl.edu 37 1 166962013 166962013 + Missense_Mutation SNP T T C TCGA-AB-2939-03A-01W-0745-08 TCGA-AB-2939-11A-01W-0745-08 T T T C T T Verified Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq 1 dbGAP Illumina HiSeq 4cc29033-1f07-450a-8fd9-119918d41d31 ac036ed9-2075-47b8-b2bf-b7b235fdbf13 1 165228637 165228637 T C SNP MAEL NM_032858.1 human genbank 54_36p +1 validated missense c.416 p.I139T 1.000 HMMPfam_DUF1898 superfamily_HMG-box,HMMPfam_DUF1898 - no_errors 94 3 3.09 111 124 51.45 0 3 100.00 +SLC16A14 0 genome.wustl.edu 37 2 230910902 230910902 + Nonsense_Mutation SNP G G A TCGA-AB-2939-03A-01W-0745-08 TCGA-AB-2939-11A-01W-0745-08 G G G A G G Verified Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq 1 dbGAP Illumina HiSeq 4cc29033-1f07-450a-8fd9-119918d41d31 ac036ed9-2075-47b8-b2bf-b7b235fdbf13 2 230619146 230619146 G A SNP SLC16A14 NM_152527.3 human genbank 54_36p -1 provisional nonsense c.940 p.R314* 0.701 HMMPfam_MFS_1,superfamily_MFS general substrate transporter HMMPfam_MFS_1,superfamily_MFS general substrate transporter - no_errors 135 3 2.16 116 67 36.41 11 7 38.89 +SLC6A20 0 genome.wustl.edu 37 3 45823629 45823629 + Missense_Mutation SNP G G A TCGA-AB-2939-03A-01W-0745-08 TCGA-AB-2939-11A-01W-0745-08 G G G A G G Verified Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq 1 dbGAP Illumina HiSeq 4cc29033-1f07-450a-8fd9-119918d41d31 ac036ed9-2075-47b8-b2bf-b7b235fdbf13 3 45798633 45798633 G A SNP SLC6A20 NM_020208.3 human genbank 54_36p -1 reviewed missense c.208 p.R70W 1.000 HMMPfam_SNF HMMPfam_SNF,PatternScan_NA_NEUROTRAN_SYMP_1,PatternScan_NA_NEUROTRAN_SYMP_2 - no_errors 92 2 2.11 90 71 43.03 NA NA NA +SI 0 genome.wustl.edu 37 3 164733754 164733754 + Missense_Mutation SNP A A G TCGA-AB-2939-03A-01W-0745-08 TCGA-AB-2939-11A-01W-0745-08 A A A G A A Verified Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq 1 dbGAP Illumina HiSeq 4cc29033-1f07-450a-8fd9-119918d41d31 ac036ed9-2075-47b8-b2bf-b7b235fdbf13 3 166216448 166216448 A G SNP SI NM_001041.2 human genbank 54_36p -1 validated missense c.3874 p.Y1292H 1.000 HMMPfam_Glyco_hydro_31,superfamily_(Trans)glycosidases HMMPfam_Glyco_hydro_31,PatternScan_GLYCOSYL_HYDROL_F31_1,PatternScan_GLYCOSYL_HYDROL_F31_2,HMMPfam_Trefoil,HMMSmart_SM00018,superfamily_Trefoil,superfamily_(Trans)glycosidases,PatternScan_P_TREFOIL - no_errors 80 1 1.23 100 78 43.58 NA NA NA +LNX1 0 genome.wustl.edu 37 4 54364820 54364820 + Silent SNP G G A TCGA-AB-2939-03A-01W-0745-08 TCGA-AB-2939-11A-01W-0745-08 G G G A G G Verified Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq 1 dbGAP Illumina HiSeq 4cc29033-1f07-450a-8fd9-119918d41d31 ac036ed9-2075-47b8-b2bf-b7b235fdbf13 4 54059577 54059577 G A SNP LNX1 NM_032622.1 human genbank 54_36p -1 reviewed silent c.678 p.D226 1.000 HMMPfam_PDZ,HMMSmart_PDZ,superfamily_PDZ HMMPfam_PDZ,HMMSmart_PDZ,superfamily_PDZ - no_errors 200 5 2.44 187 144 42.86 NA NA NA +KIT 0 genome.wustl.edu 37 4 55599321 55599321 + Missense_Mutation SNP A A T rs121913507 TCGA-AB-2939-03A-01W-0745-08 TCGA-AB-2939-11A-01W-0745-08 A A A T A A Verified Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq 1 dbGAP Illumina HiSeq 4cc29033-1f07-450a-8fd9-119918d41d31 ac036ed9-2075-47b8-b2bf-b7b235fdbf13 4 55294078 55294078 A T SNP KIT NM_000222.2 human genbank 54_36p +1 reviewed missense c.2447 p.D816V 1.000 HMMPfam_Pkinase_Tyr,HMMSmart_TyrKc,superfamily_Kinase_like HMMPfam_Pkinase_Tyr,HMMSmart_TyrKc,PatternScan_RECEPTOR_TYR_KIN_III,HMMSmart_IGc2,HMMSmart_IG,PatternScan_PROTEIN_KINASE_TYR,superfamily_Kinase_like,HMMPfam_ig,PatternScan_PROTEIN_KINASE_ATP,superfamily_SSF48726 - no_errors 65 0 0.00 57 70 55.12 731 747 50.54 +PRSS35 0 genome.wustl.edu 37 6 84234378 84234378 + Silent SNP C C T TCGA-AB-2939-03A-01W-0745-08 TCGA-AB-2939-11A-01W-0745-08 C C C T C C Verified Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq 1 dbGAP Illumina HiSeq 4cc29033-1f07-450a-8fd9-119918d41d31 ac036ed9-2075-47b8-b2bf-b7b235fdbf13 6 84291097 84291097 C T SNP PRSS35 NM_153362.1 human genbank 54_36p +1 provisional silent c.1218 p.N406 1.000 NULL HMMPfam_Trypsin,HMMSmart_Tryp_SPc,superfamily_Pept_Ser_Cys,PatternScan_TRYPSIN_HIS,PatternScan_TRYPSIN_SER - no_errors 90 1 1.10 154 128 45.07 NA NA NA +SCIN 0 genome.wustl.edu 37 7 12644246 12644246 + Silent SNP A A C TCGA-AB-2939-03A-01W-0745-08 TCGA-AB-2939-11A-01W-0745-08 A A A C A A Verified Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq 1 dbGAP Illumina HiSeq 4cc29033-1f07-450a-8fd9-119918d41d31 ac036ed9-2075-47b8-b2bf-b7b235fdbf13 7 12610771 12610771 A C SNP SCIN ENST00000297029 human ensembl 54_36p +1 known silent c.624 p.L208 0.066 HMMSmart_SM00262,HMMPfam_Gelsolin,superfamily_Actin depolymerizing proteins HMMSmart_SM00262,HMMPfam_Gelsolin,superfamily_Actin depolymerizing proteins,superfamily_C-terminal gelsolin-like domain of Sec23/24 - no_errors 94 0 0.00 158 126 43.75 0 1 100.00 +GALNTL4 0 genome.wustl.edu 37 11 11398886 11398886 + Missense_Mutation SNP G G A TCGA-AB-2939-03A-01W-0745-08 TCGA-AB-2939-11A-01W-0745-08 G G G A G G Verified Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq 1 dbGAP Illumina HiSeq 4cc29033-1f07-450a-8fd9-119918d41d31 ac036ed9-2075-47b8-b2bf-b7b235fdbf13 11 11355462 11355462 G A SNP GALNTL4 NM_198516.2 human genbank 54_36p -1 validated missense c.820 p.R274W 0.981 HMMPfam_Glycos_transf_2,superfamily_Nucleotide-diphospho-sugar transferases HMMPfam_Ricin_B_lectin,HMMSmart_SM00458,HMMPfam_Glycos_transf_2,superfamily_Ricin B-like lectins,superfamily_Nucleotide-diphospho-sugar transferases - no_errors 96 1 1.03 178 153 45.81 NA NA NA +C11orf41 0 genome.wustl.edu 37 11 33572721 33572721 + Missense_Mutation SNP C C A TCGA-AB-2939-03A-01W-0745-08 TCGA-AB-2939-11A-01W-0745-08 C C C A C C Verified Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq 1 dbGAP Illumina HiSeq 4cc29033-1f07-450a-8fd9-119918d41d31 ac036ed9-2075-47b8-b2bf-b7b235fdbf13 11 33529297 33529297 C A SNP C11orf41 NM_012194.1 human genbank 54_36p +1 validated missense c.2764 p.Q922K 1.000 NULL NULL - no_errors 178 8 4.23 92 91 49.46 NA NA NA +ENSG00000209624 0 genome.wustl.edu 37 12 25756271 25756271 + RNA SNP G G A TCGA-AB-2939-03A-01W-0745-08 TCGA-AB-2939-11A-01W-0745-08 G G G A G G Verified Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq 1 dbGAP Illumina HiSeq 4cc29033-1f07-450a-8fd9-119918d41d31 ac036ed9-2075-47b8-b2bf-b7b235fdbf13 12 25647538 25647538 G A SNP ENSG00000209624 ENST00000386889 human ensembl 54_36p -1 novel rna NULL NULL 0.013 - - - pseudogene 156 7 4.27 134 108 43.72 NA NA NA +MLL2 0 genome.wustl.edu 37 12 49425367 49425367 + Missense_Mutation SNP A A T TCGA-AB-2939-03A-01W-0745-08 TCGA-AB-2939-11A-01W-0745-08 A A A T A A Verified Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq 1 dbGAP Illumina HiSeq 4cc29033-1f07-450a-8fd9-119918d41d31 ac036ed9-2075-47b8-b2bf-b7b235fdbf13 12 47711634 47711634 A T SNP MLL2 NM_003482.3 human genbank 54_36p -1 validated missense c.13121 p.L4374Q 0.599 NULL HMMPfam_HMG_box,HMMSmart_SM00398,HMMPfam_SET,HMMSmart_SM00317,HMMSmart_SM00184,HMMSmart_SM00249,HMMSmart_SM00508,HMMPfam_FYRN,HMMPfam_FYRC,PatternScan_RECOMBINASES_2,superfamily_HMG-box,superfamily_FYVE/PHD zinc finger,HMMSmart_SM00542,HMMSmart_SM00541,PatternScan_ZF_PHD_1,HMMPfam_PHD,superfamily_SET domain - no_errors 25 1 3.85 49 47 48.96 66 75 53.19 +KRT77 0 genome.wustl.edu 37 12 53097123 53097123 + Silent SNP C C T TCGA-AB-2939-03A-01W-0745-08 TCGA-AB-2939-11A-01W-0745-08 C C C T C C Verified Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq 1 dbGAP Illumina HiSeq 4cc29033-1f07-450a-8fd9-119918d41d31 ac036ed9-2075-47b8-b2bf-b7b235fdbf13 12 51383390 51383390 C T SNP KRT77 NM_175078.2 human genbank 54_36p -1 validated silent c.96 p.P32 0.000 NULL HMMPfam_Filament,PatternScan_IF - no_errors 179 4 2.17 105 74 41.34 NA NA NA +HELZ 0 genome.wustl.edu 37 17 65074476 65074476 + Missense_Mutation SNP C C A TCGA-AB-2939-03A-01W-0745-08 TCGA-AB-2939-11A-01W-0745-08 C C C A C C Verified Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq 1 dbGAP Illumina HiSeq 4cc29033-1f07-450a-8fd9-119918d41d31 ac036ed9-2075-47b8-b2bf-b7b235fdbf13 17 62504938 62504938 C A SNP HELZ NM_014877.3 human genbank 54_36p -1 validated missense c.5721 p.R1907S 0.998 NULL HMMPfam_zf-CCCH,HMMSmart_ZnF_C3H1,HMMPfam_PAM2,superfamily_SSF52540,superfamily_SSF90229 - no_errors 23 1 4.00 36 44 54.32 15 27 62.79 +LOC100133684 0 genome.wustl.edu 37 13 28645084 28645085 + Frame_Shift_Del DEL TG TG - rs147323384 TCGA-AB-2939-03A-01W-0745-08 TCGA-AB-2939-11A-01W-0745-08 TG TG TG - TG TG Verified Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq 1 dbGAP Illumina HiSeq 4cc29033-1f07-450a-8fd9-119918d41d31 ac036ed9-2075-47b8-b2bf-b7b235fdbf13 13 27543084 27543085 TG - DEL LOC100133684 XM_001716774.1 human genbank 54_36p -1 model frame_shift_del c.1040_1039 p.T347fs 0.000:0.000 NULL NULL - no_start_codon:pseudogene:no_stop_codon 0 0 0.00 0 0 0.00 0 0 0.00 +IL32 0 genome.wustl.edu 37 16 3119297 3119298 + Frame_Shift_Ins INS - - G rs71818662 TCGA-AB-2939-03A-01W-0745-08 TCGA-AB-2939-11A-01W-0745-08 - - - G - - Verified Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq 1 dbGAP Illumina HiSeq 4cc29033-1f07-450a-8fd9-119918d41d31 ac036ed9-2075-47b8-b2bf-b7b235fdbf13 16 3059298 3059299 - G INS IL32 NM_001012631.1 human genbank 54_36p +1 reviewed frame_shift_ins c.508_509 p.D172fs 0.001:0.001 NULL NULL - no_errors 9 0 0.00 15 10 40.00 25 0 0.00 +LOC100132800 0 genome.wustl.edu 37 19 52094258 52094259 + In_Frame_Ins INS - - CACCTG rs113581628 TCGA-AB-2939-03A-01W-0745-08 TCGA-AB-2939-11A-01W-0745-08 - - - CACCTG - - Verified Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq 1 dbGAP Illumina HiSeq 4cc29033-1f07-450a-8fd9-119918d41d31 ac036ed9-2075-47b8-b2bf-b7b235fdbf13 19 56786070 56786071 - CACCTG INS LOC100132800 XM_001724852.1 human genbank 54_36p +1 model in_frame_ins c.45_46 p.17in_frame_insHL 0.099:0.155 NULL NULL - no_errors NA NA NA NA NA NA NA NA NA +MLL3 0 genome.wustl.edu 37 7 151874161 151874161 + Nonsense_Mutation SNP C C A TCGA-AB-2940-03A-01W-0733-08 TCGA-AB-2940-11A-01W-0732-08 C C C A C C Verified Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq 1 dbGAP Illumina HiSeq 6d2b23e2-12c0-4f19-a8f4-defe50ffeeb5 286c5568-d97b-4af0-9c61-47d91dd7ec12 7 151505094 151505094 C A SNP MLL3 NM_170606.2 human genbank 54_36p -1 reviewed nonsense c.8377 p.E2793* 0.943 NULL PatternScan_HMGI_Y,HMMPfam_HMG_box,HMMSmart_SM00398,HMMPfam_SET,HMMSmart_SM00317,HMMSmart_SM00184,HMMSmart_SM00249,HMMSmart_SM00508,HMMPfam_FYRN,HMMPfam_FYRC,superfamily_FYVE/PHD zinc finger,HMMPfam_AT_hook,HMMSmart_SM00542,HMMSmart_SM00541,PatternScan_ZF_PHD_1,HMMPfam_PHD,PatternScan_ATPASE_ALPHA_BETA,superfamily_SET domain - no_errors 226 7 2.99 96 21 17.95 44 8 15.38 +NEURL4 0 genome.wustl.edu 37 17 7228737 7228737 + Silent SNP C C T TCGA-AB-2940-03A-01W-0733-08 TCGA-AB-2940-11A-01W-0732-08 C C C T C C Verified Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq 1 dbGAP Illumina HiSeq 6d2b23e2-12c0-4f19-a8f4-defe50ffeeb5 286c5568-d97b-4af0-9c61-47d91dd7ec12 17 7169461 7169461 C T SNP NEURL4 NM_032442.1 human genbank 54_36p -1 validated silent c.1422 p.G474 1.000 NULL HMMPfam_Neuralized,HMMSmart_SM00588 - no_errors 57 6 9.52 26 8 23.53 32 6 15.79 +LOC729135 0 genome.wustl.edu 37 1 149673218 149673219 + RNA INS - - C TCGA-AB-2940-03A-01W-0733-08 TCGA-AB-2940-11A-01W-0732-08 - - - C - - Verified Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq 1 dbGAP Illumina HiSeq 6d2b23e2-12c0-4f19-a8f4-defe50ffeeb5 286c5568-d97b-4af0-9c61-47d91dd7ec12 1 147939842 147939843 - C INS LOC729135 XR_039107.1 human genbank 54_36p -1 model rna NULL NULL 0.009:0.013 - - - pseudogene 8 0 0.00 29 8 21.62 22 0 0.00 +CEBPA 0 genome.wustl.edu 37 19 33792395 33792396 + In_Frame_Ins INS - - CCA TCGA-AB-2940-03A-01W-0733-08 TCGA-AB-2940-11A-01W-0732-08 - - - CCA - - Verified Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq 1 dbGAP Illumina HiSeq 6d2b23e2-12c0-4f19-a8f4-defe50ffeeb5 286c5568-d97b-4af0-9c61-47d91dd7ec12 19 38484235 38484236 - CCA INS CEBPA NM_004364.3 human genbank 54_36p -1 reviewed in_frame_ins c.926_925 p.309in_frame_insV 1.000:1.000 HMMSmart_BRLZ,HMMPfam_bZIP_2 HMMSmart_BRLZ,PatternScan_BZIP_BASIC,HMMPfam_bZIP_2 - no_errors 1 0 0.00 11 8 42.11 143 114 44.36 +CEBPA 0 genome.wustl.edu 37 19 33793253 33793253 + Frame_Shift_Del DEL G G - rs137852728 TCGA-AB-2940-03A-01W-0733-08 TCGA-AB-2940-11A-01W-0732-08 G G G - G G Verified Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq 1 dbGAP Illumina HiSeq 6d2b23e2-12c0-4f19-a8f4-defe50ffeeb5 286c5568-d97b-4af0-9c61-47d91dd7ec12 19 38485093 38485093 G - DEL CEBPA NM_004364.3 human genbank 54_36p -1 reviewed frame_shift_del c.68 p.P23fs 0.998 NULL HMMSmart_BRLZ,PatternScan_BZIP_BASIC,HMMPfam_bZIP_2 - no_errors 0 0 0.00 0 0 0.00 64 31 32.29 +TCEAL3 0 genome.wustl.edu 37 X 102864442 102864442 + Silent SNP A A G TCGA-AB-2941-03A-01W-0745-08 TCGA-AB-2941-11A-01W-0745-08 A A A G A A Verified Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq 1 dbGAP Illumina HiSeq f2dd9aa3-dbe1-49ae-bc4f-ba2574759654 57e0ec3e-72a6-4f13-8af7-93642db05dcf X 102751098 102751098 A G SNP TCEAL3 NM_001006933.1 human genbank 54_36p +1 reviewed silent c.450 p.Q150 1.000 HMMPfam_TFA HMMPfam_TFA - no_errors 206 8 3.67 120 38 24.05 14 0 0.00 +COL16A1 0 genome.wustl.edu 37 1 32145177 32145177 + Nonsense_Mutation SNP C C T TCGA-AB-2941-03A-01W-0745-08 TCGA-AB-2941-11A-01W-0745-08 C C C T C C Verified Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq 1 dbGAP Illumina HiSeq f2dd9aa3-dbe1-49ae-bc4f-ba2574759654 57e0ec3e-72a6-4f13-8af7-93642db05dcf 1 31917764 31917764 C T SNP COL16A1 ENST00000373668 human ensembl 54_36p -1 known nonsense c.2780 p.W927* 0.002 NULL HMMSmart_TSPN,HMMPfam_Collagen,superfamily_ConA_like_lec_gl - no_errors 120 4 3.20 41 20 32.79 NA NA NA +LOC728247 0 genome.wustl.edu 37 3 197847631 197847631 + RNA SNP C C T TCGA-AB-2941-03A-01W-0745-08 TCGA-AB-2941-11A-01W-0745-08 C C C T C C Verified Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq 1 dbGAP Illumina HiSeq f2dd9aa3-dbe1-49ae-bc4f-ba2574759654 57e0ec3e-72a6-4f13-8af7-93642db05dcf 3 199332028 199332028 C T SNP LOC728247 XR_015241.2 human genbank 54_36p +1 model rna NULL NULL 0.431 - - - pseudogene 69 1 1.43 30 11 26.83 NA NA NA +PKIB 0 genome.wustl.edu 37 6 123039093 123039093 + Missense_Mutation SNP C C T TCGA-AB-2941-03A-01W-0745-08 TCGA-AB-2941-11A-01W-0745-08 C C C T C C Verified Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq 1 dbGAP Illumina HiSeq f2dd9aa3-dbe1-49ae-bc4f-ba2574759654 57e0ec3e-72a6-4f13-8af7-93642db05dcf 6 123080792 123080792 C T SNP PKIB NM_032471.4 human genbank 54_36p +1 reviewed missense c.154 p.L52F 0.042 HMMPfam_PKI HMMPfam_PKI - no_errors 143 4 2.72 61 32 34.41 NA NA NA +TNRC18 0 genome.wustl.edu 37 7 63032749 63032749 + Missense_Mutation SNP G G A TCGA-AB-2941-03A-01W-0745-08 TCGA-AB-2941-11A-01W-0745-08 G G G A G G Verified Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq 1 dbGAP Illumina HiSeq f2dd9aa3-dbe1-49ae-bc4f-ba2574759654 57e0ec3e-72a6-4f13-8af7-93642db05dcf 7 62670184 62670184 G A SNP TNRC18 XM_376618.5 human genbank 54_36p -1 model missense c.1855 p.R619W 1.000 NULL NULL - pseudogene 92 6 6.12 36 16 30.77 NA NA NA +LRRC4 0 genome.wustl.edu 37 7 127669173 127669173 + Silent SNP G G A TCGA-AB-2941-03A-01W-0745-08 TCGA-AB-2941-11A-01W-0745-08 G G G A G G Verified Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq 1 dbGAP Illumina HiSeq f2dd9aa3-dbe1-49ae-bc4f-ba2574759654 57e0ec3e-72a6-4f13-8af7-93642db05dcf 7 127456409 127456409 G A SNP LRRC4 NM_022143.4 human genbank 54_36p -1 validated silent c.1521 p.P507 0.948 NULL HMMPfam_LRRNT,HMMSmart_SM00013,HMMSmart_SM00082,HMMPfam_LRR_1,HMMSmart_SM00369,HMMSmart_SM00408,HMMSmart_SM00409,HMMPfam_I-set,superfamily_Immunoglobulin,superfamily_L domain-like - no_errors 155 19 10.86 14 18 56.25 2 42 95.45 +TP53 0 genome.wustl.edu 37 17 7578265 7578265 + Missense_Mutation SNP A A C TCGA-AB-2941-03A-01W-0745-08 TCGA-AB-2941-11A-01W-0745-08 A A A C A A Verified Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq 1 dbGAP Illumina HiSeq f2dd9aa3-dbe1-49ae-bc4f-ba2574759654 57e0ec3e-72a6-4f13-8af7-93642db05dcf 17 7518990 7518990 A C SNP TP53 NM_000546.4 human genbank 54_36p -1 reviewed missense c.584 p.I195S 1.000 superfamily_p53-like transcription factors,HMMPfam_P53 PatternScan_P53,superfamily_p53-like transcription factors,HMMPfam_P53_tetramer,superfamily_p53 tetramerization domain,HMMPfam_P53,HMMPfam_P53_TAD - no_errors 430 27 5.86 53 15 22.06 4 91 95.79 +SYNJ1 0 genome.wustl.edu 37 21 34067507 34067507 + Missense_Mutation SNP T T C TCGA-AB-2941-03A-01W-0745-08 TCGA-AB-2941-11A-01W-0745-08 T T T C T T Verified Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq 1 dbGAP Illumina HiSeq f2dd9aa3-dbe1-49ae-bc4f-ba2574759654 57e0ec3e-72a6-4f13-8af7-93642db05dcf 21 32989378 32989378 T C SNP SYNJ1 NM_003895.2 human genbank 54_36p -1 validated missense c.565 p.I189V 1.000 HMMPfam_Syja_N HMMSmart_SM00128,HMMPfam_Syja_N,HMMPfam_Exo_endo_phos,superfamily_DNase I-like,HMMPfam_DUF1866,superfamily_RNA-binding domain RBD - no_errors 262 32 10.77 52 35 39.77 20 27 57.45 +uc001vvs.1 0 genome.wustl.edu 37 14 19891212 19891213 + Frame_Shift_Del DEL TG TG - TCGA-AB-2941-03A-01W-0745-08 TCGA-AB-2941-11A-01W-0745-08 TG TG TG - TG TG Verified Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq 1 dbGAP Illumina HiSeq f2dd9aa3-dbe1-49ae-bc4f-ba2574759654 57e0ec3e-72a6-4f13-8af7-93642db05dcf 14 18961212 18961213 TG - DEL uc001vvs.1 ENST00000383038 human ensembl 54_36p -1 known frame_shift_del c.233_232 p.Q78fs 0.000:0.000 NULL NULL - no_errors 0 2 0.41 0 2 14.29 0 8 19.05 +ABTB1 0 genome.wustl.edu 37 3 127396114 127396115 + Frame_Shift_Ins INS - - C TCGA-AB-2942-03A-01W-0733-08 TCGA-AB-2942-11A-01W-0732-08 - - - C - - Verified Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq 1 dbGAP Illumina HiSeq af220cc1-d206-4eee-ba61-256dd5624cf7 90bd2936-35ee-4255-b200-e25c8f4c5b61 3 128878804 128878805 - C INS ABTB1 NM_172027.2 human genbank 54_36p +1 reviewed frame_shift_ins c.747_748 p.E251fs 1.000:1.000 NULL HMMSmart_SM00225,HMMPfam_Ank,HMMSmart_SM00248,superfamily_Ankyrin repeat,superfamily_POZ domain,HMMPfam_BTB - no_errors 14 0 0.00 23 3 11.54 39 0 0.00 +FLT3 0 genome.wustl.edu 37 13 28608258 28608259 + In_Frame_Ins INS - - TATTCATATTCTCTGAAATCAACG TCGA-AB-2942-03A-01W-0733-08 TCGA-AB-2942-11A-01W-0732-08 - - - TATTCATATTCTCTGAAATCAACG - - Verified Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq 1 dbGAP Illumina HiSeq af220cc1-d206-4eee-ba61-256dd5624cf7 90bd2936-35ee-4255-b200-e25c8f4c5b61 13 27506258 27506259 - TATTCATATTCTCTGAAATCAACG INS FLT3 NM_004119.2 human genbank 54_36p -1 reviewed in_frame_ins c.1798_1797 p.DLKW599in_frame_insR* 1.000:1.000 superfamily_Kinase_like HMMPfam_Pkinase_Tyr,HMMSmart_TyrKc,PatternScan_RECEPTOR_TYR_KIN_III,PatternScan_PROTEIN_KINASE_TYR,superfamily_Kinase_like,HMMPfam_ig,PatternScan_PROTEIN_KINASE_ATP,superfamily_SSF48726 - no_errors NA NA NA NA NA NA NA NA NA +PRAMEF11 0 genome.wustl.edu 37 1 12884983 12884983 + Missense_Mutation SNP C C T TCGA-AB-2943-03A-01W-0745-08 TCGA-AB-2943-11A-01W-0745-08 C C C T C C Verified Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq 1 dbGAP Illumina HiSeq 9ffddf15-3f38-4dac-a9f6-2636130c050b 32623a30-c839-4621-a7df-af0b615c01c1 1 12807570 12807570 C T SNP PRAMEF11 XM_001714837.1 human genbank 54_36p -1 model missense c.1358 p.R453H 0.033 NULL NULL - pseudogene:no_stop_codon:bad_bp_length_for_coding_region 44 0 0.00 61 17 21.79 NA NA NA +USP48 0 genome.wustl.edu 37 1 22033076 22033076 + Nonsense_Mutation SNP C C A TCGA-AB-2943-03A-01W-0745-08 TCGA-AB-2943-11A-01W-0745-08 C C C A C C Verified Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq 1 dbGAP Illumina HiSeq 9ffddf15-3f38-4dac-a9f6-2636130c050b 32623a30-c839-4621-a7df-af0b615c01c1 1 21905663 21905663 C A SNP USP48 NM_032236.1 human genbank 54_36p -1 reviewed nonsense c.2095 p.E699* 1.000 NULL HMMPfam_UCH,PatternScan_UCH_2_2,superfamily_Cysteine proteinases,superfamily_Ubiquitin-like - no_errors 120 0 0.00 146 165 52.72 56 53 48.62 +LOC728448 0 genome.wustl.edu 37 1 40007490 40007490 + RNA SNP G G C TCGA-AB-2943-03A-01W-0745-08 TCGA-AB-2943-11A-01W-0745-08 G G G C G G Verified Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq 1 dbGAP Illumina HiSeq 9ffddf15-3f38-4dac-a9f6-2636130c050b 32623a30-c839-4621-a7df-af0b615c01c1 1 39780077 39780077 G C SNP LOC728448 NR_003929.2 human genbank 54_36p -1 validated rna NULL NULL 1.000 - - - pseudogene 129 0 0.00 132 125 47.89 9 49 83.05 +CACNA2D3 0 genome.wustl.edu 37 3 54930839 54930839 + Nonsense_Mutation SNP C C A TCGA-AB-2943-03A-01W-0745-08 TCGA-AB-2943-11A-01W-0745-08 C C C A C C Verified Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq 1 dbGAP Illumina HiSeq 9ffddf15-3f38-4dac-a9f6-2636130c050b 32623a30-c839-4621-a7df-af0b615c01c1 3 54905879 54905879 C A SNP CACNA2D3 NM_018398.2 human genbank 54_36p +1 reviewed nonsense c.2310 p.Y770* 1.000 NULL HMMPfam_VWA,HMMSmart_SM00327,HMMPfam_Cache_1,HMMPfam_VWA_N,superfamily_vWA-like - no_errors 77 2 2.53 169 80 31.87 NA NA NA +CADPS 0 genome.wustl.edu 37 3 62578313 62578313 + Missense_Mutation SNP C C T TCGA-AB-2943-03A-01W-0745-08 TCGA-AB-2943-11A-01W-0745-08 C C C T C C Verified Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq 1 dbGAP Illumina HiSeq 9ffddf15-3f38-4dac-a9f6-2636130c050b 32623a30-c839-4621-a7df-af0b615c01c1 3 62553353 62553353 C T SNP CADPS NM_003716.3 human genbank 54_36p -1 reviewed missense c.1436 p.R479Q 0.998 HMMPfam_C2 HMMPfam_C2,HMMPfam_PH,HMMSmart_SM00233,HMMPfam_DUF1041,superfamily_PH domain-like - no_errors 107 0 0.00 161 38 19.00 NA NA NA +PRICKLE2 0 genome.wustl.edu 37 3 64085285 64085285 + Silent SNP G G A TCGA-AB-2943-03A-01W-0745-08 TCGA-AB-2943-11A-01W-0745-08 G G G A G G Verified Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq 1 dbGAP Illumina HiSeq 9ffddf15-3f38-4dac-a9f6-2636130c050b 32623a30-c839-4621-a7df-af0b615c01c1 3 64060325 64060325 G A SNP PRICKLE2 NM_198859.3 human genbank 54_36p -1 validated silent c.1977 p.G659 0.036 NULL HMMPfam_LIM,HMMSmart_LIM,PatternScan_LIM_DOMAIN_1,HMMPfam_PET,superfamily_SSF57716 - no_errors 35 0 0.00 86 31 25.83 NA NA NA +EPHA3 0 genome.wustl.edu 37 3 89528572 89528572 + Missense_Mutation SNP G G A TCGA-AB-2943-03A-01W-0745-08 TCGA-AB-2943-11A-01W-0745-08 G G G A G G Verified Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq 1 dbGAP Illumina HiSeq 9ffddf15-3f38-4dac-a9f6-2636130c050b 32623a30-c839-4621-a7df-af0b615c01c1 3 89611262 89611262 G A SNP EPHA3 NM_005233.5 human genbank 54_36p +1 reviewed missense c.2872 p.V958M 0.994 HMMSmart_SM00454,superfamily_SAM/Pointed domain,HMMPfam_SAM_2 HMMPfam_Ephrin_lbd,HMMSmart_SM00615,HMMPfam_Pkinase_Tyr,HMMSmart_SM00219,PatternScan_RECEPTOR_TYR_KIN_V_1,PatternScan_RECEPTOR_TYR_KIN_V_2,HMMSmart_SM00454,HMMSmart_SM00220,HMMPfam_fn3,HMMSmart_SM00060,PatternScan_PROTEIN_KINASE_TYR,superfamily_Fibronectin type III,superfamily_Galactose-binding domain-like,superfamily_SAM/Pointed domain,superfamily_Protein kinase-like (PK-like),HMMPfam_SAM_2,PatternScan_EGF_2,PatternScan_PROTEIN_KINASE_ATP - no_errors 65 0 0.00 104 39 26.90 NA NA NA +YEATS2 0 genome.wustl.edu 37 3 183521065 183521065 + Missense_Mutation SNP C C T TCGA-AB-2943-03A-01W-0745-08 TCGA-AB-2943-11A-01W-0745-08 C C C T C C Verified Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq 1 dbGAP Illumina HiSeq 9ffddf15-3f38-4dac-a9f6-2636130c050b 32623a30-c839-4621-a7df-af0b615c01c1 3 185003759 185003759 C T SNP YEATS2 NM_018023.3 human genbank 54_36p +1 provisional missense c.3524 p.S1175F 1.000 NULL HMMPfam_YEATS - no_errors 92 0 0.00 103 43 28.86 27 4 12.90 +C6orf106 0 genome.wustl.edu 37 6 34622530 34622530 + Missense_Mutation SNP T T C TCGA-AB-2943-03A-01W-0745-08 TCGA-AB-2943-11A-01W-0745-08 T T T C T T Verified Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq 1 dbGAP Illumina HiSeq 9ffddf15-3f38-4dac-a9f6-2636130c050b 32623a30-c839-4621-a7df-af0b615c01c1 6 34730508 34730508 T C SNP C6orf106 NM_024294.4 human genbank 54_36p -1 validated missense c.185 p.Y62C 1.000 superfamily_UBA-like superfamily_UBA-like - no_errors 56 1 1.75 145 68 31.78 65 24 26.97 +ATP6V1C1 0 genome.wustl.edu 37 8 104068114 104068114 + Missense_Mutation SNP G G T TCGA-AB-2943-03A-01W-0745-08 TCGA-AB-2943-11A-01W-0745-08 G G G T G G Verified Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq 1 dbGAP Illumina HiSeq 9ffddf15-3f38-4dac-a9f6-2636130c050b 32623a30-c839-4621-a7df-af0b615c01c1 8 104137290 104137290 G T SNP ATP6V1C1 NM_001695.4 human genbank 54_36p +1 reviewed missense c.591 p.W197C 1.000 HMMPfam_V-ATPase_C HMMPfam_V-ATPase_C - no_errors 54 0 0.00 149 70 31.82 43 41 48.81 +DHTKD1 0 genome.wustl.edu 37 10 12154955 12154955 + Silent SNP T T G TCGA-AB-2943-03A-01W-0745-08 TCGA-AB-2943-11A-01W-0745-08 T T T G T T Verified Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq 1 dbGAP Illumina HiSeq 9ffddf15-3f38-4dac-a9f6-2636130c050b 32623a30-c839-4621-a7df-af0b615c01c1 10 12194961 12194961 T G SNP DHTKD1 NM_018706.5 human genbank 54_36p +1 validated silent c.2211 p.V737 0.112 HMMPfam_Transket_pyr,superfamily_Thiamin diphosphate-binding fold (THDP-binding) HMMPfam_E1_dh,HMMPfam_Transket_pyr,superfamily_Thiamin diphosphate-binding fold (THDP-binding) - no_errors 183 0 0.00 161 52 24.19 19 7 26.92 +LOC728532 0 genome.wustl.edu 37 10 52024774 52024774 + RNA SNP C C T TCGA-AB-2943-03A-01W-0745-08 TCGA-AB-2943-11A-01W-0745-08 C C C T C C Verified Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq 1 dbGAP Illumina HiSeq 9ffddf15-3f38-4dac-a9f6-2636130c050b 32623a30-c839-4621-a7df-af0b615c01c1 10 51694780 51694780 C T SNP LOC728532 XR_015428.2 human genbank 54_36p +1 model rna NULL NULL 1.000 - - - pseudogene 53 0 0.00 134 71 34.63 47 0 0.00 +LOC401648 0 genome.wustl.edu 37 10 104975971 104975971 + RNA SNP A A G TCGA-AB-2943-03A-01W-0745-08 TCGA-AB-2943-11A-01W-0745-08 A A A G A A Verified Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq 1 dbGAP Illumina HiSeq 9ffddf15-3f38-4dac-a9f6-2636130c050b 32623a30-c839-4621-a7df-af0b615c01c1 10 104965961 104965961 A G SNP LOC401648 XR_017482.1 human genbank 54_36p +1 model rna NULL NULL 0.999 - - - pseudogene 25 2 7.41 25 15 37.50 33 1 2.94 +FLT1 0 genome.wustl.edu 37 13 29001448 29001448 + Silent SNP G G C TCGA-AB-2943-03A-01W-0745-08 TCGA-AB-2943-11A-01W-0745-08 G G G C G G Verified Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq 1 dbGAP Illumina HiSeq 9ffddf15-3f38-4dac-a9f6-2636130c050b 32623a30-c839-4621-a7df-af0b615c01c1 13 27899448 27899448 G C SNP FLT1 NM_002019.3 human genbank 54_36p -1 validated silent c.1284 p.P428 0.997 superfamily_Immunoglobulin HMMPfam_Pkinase_Tyr,HMMSmart_SM00219,PatternScan_RECEPTOR_TYR_KIN_III,HMMSmart_SM00220,HMMSmart_SM00406,HMMSmart_SM00408,HMMSmart_SM00409,PatternScan_PROTEIN_KINASE_TYR,superfamily_Protein kinase-like (PK-like),HMMPfam_I-set,HMMPfam_ig,PatternScan_PROTEIN_KINASE_ATP,superfamily_Immunoglobulin - no_errors 70 0 0.00 109 34 23.61 2 0 0.00 +SERPINA12 0 genome.wustl.edu 37 14 94964457 94964457 + Missense_Mutation SNP C C T TCGA-AB-2943-03A-01W-0745-08 TCGA-AB-2943-11A-01W-0745-08 C C C T C C Verified Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq 1 dbGAP Illumina HiSeq 9ffddf15-3f38-4dac-a9f6-2636130c050b 32623a30-c839-4621-a7df-af0b615c01c1 14 94034210 94034210 C T SNP SERPINA12 NM_173850.2 human genbank 54_36p -1 provisional missense c.278 p.S93N 0.049 HMMPfam_Serpin,HMMSmart_SERPIN,superfamily_Prot_inh_serpin HMMPfam_Serpin,HMMSmart_SERPIN,PatternScan_SERPIN,superfamily_Prot_inh_serpin - no_errors 112 0 0.00 162 72 30.64 NA NA NA +TP53 0 genome.wustl.edu 37 17 7577121 7577121 + Missense_Mutation SNP G G A rs121913343 TCGA-AB-2943-03A-01W-0745-08 TCGA-AB-2943-11A-01W-0745-08 G G G A G G Verified Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq 1 dbGAP Illumina HiSeq 9ffddf15-3f38-4dac-a9f6-2636130c050b 32623a30-c839-4621-a7df-af0b615c01c1 17 7517846 7517846 G A SNP TP53 NM_000546.4 human genbank 54_36p -1 reviewed missense c.817 p.R273C 0.797 superfamily_p53-like transcription factors,HMMPfam_P53 PatternScan_P53,superfamily_p53-like transcription factors,HMMPfam_P53_tetramer,superfamily_p53 tetramerization domain,HMMPfam_P53,HMMPfam_P53_TAD - no_errors 98 7 6.54 46 144 74.61 17 137 88.96 +ZNF460 0 genome.wustl.edu 37 19 57803013 57803013 + Missense_Mutation SNP A A T TCGA-AB-2943-03A-01W-0745-08 TCGA-AB-2943-11A-01W-0745-08 A A A T A A Verified Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq 1 dbGAP Illumina HiSeq 9ffddf15-3f38-4dac-a9f6-2636130c050b 32623a30-c839-4621-a7df-af0b615c01c1 19 62494825 62494825 A T SNP ZNF460 NM_006635.3 human genbank 54_36p +1 validated missense c.1104 p.Q368H 0.012 HMMPfam_zf-C2H2,PatternScan_ZINC_FINGER_C2H2_1,HMMSmart_ZnF_C2H2,superfamily_SSF57667 HMMPfam_KRAB,HMMSmart_KRAB,superfamily_Krueppel-associated_box,HMMPfam_zf-C2H2,PatternScan_ZINC_FINGER_C2H2_1,HMMSmart_ZnF_C2H2,superfamily_SSF57667 - no_errors 40 0 0.00 90 34 27.20 30 20 40.00 +PPPDE2 0 genome.wustl.edu 37 22 42000072 42000072 + Missense_Mutation SNP G G T TCGA-AB-2943-03A-01W-0745-08 TCGA-AB-2943-11A-01W-0745-08 G G G T G G Verified Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq 1 dbGAP Illumina HiSeq 9ffddf15-3f38-4dac-a9f6-2636130c050b 32623a30-c839-4621-a7df-af0b615c01c1 22 40330018 40330018 G T SNP PPPDE2 NM_015704.1 human genbank 54_36p -1 provisional missense c.266 p.S89Y 1.000 HMMPfam_DUF862 HMMPfam_DUF862 - no_errors 57 1 1.72 97 25 20.16 179 28 13.53 +DNMT3A 0 genome.wustl.edu 37 2 25457242 25457242 + Missense_Mutation SNP C C T TCGA-AB-2945-03A-01W-0733-08 TCGA-AB-2945-11A-01W-0732-08 C C C T C C Verified Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq 1 dbGAP Illumina HiSeq 45e961ad-9a6a-49ed-9e69-d80020ab93f3 c19658a4-1073-42aa-aa50-ab3140760804 2 25310746 25310746 C T SNP DNMT3A NM_022552.3 human genbank 54_36p -1 reviewed missense c.2645 p.R882H 1.000 superfamily_S-adenosyl-L-methionine-dependent methyltransferases HMMPfam_PWWP,HMMSmart_SM00293,HMMPfam_DNA_methylase,superfamily_FYVE/PHD zinc finger,PatternScan_C5_MTASE_1,superfamily_S-adenosyl-L-methionine-dependent methyltransferases,superfamily_Tudor/PWWP/MBT - no_errors 184 12 6.00 15 21 58.33 NA NA NA +NBEAL1 0 genome.wustl.edu 37 2 204045161 204045161 + Missense_Mutation SNP T T C TCGA-AB-2945-03A-01W-0733-08 TCGA-AB-2945-11A-01W-0732-08 T T T C T T Verified Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq 1 dbGAP Illumina HiSeq 45e961ad-9a6a-49ed-9e69-d80020ab93f3 c19658a4-1073-42aa-aa50-ab3140760804 2 203753406 203753406 T C SNP NBEAL1 NM_001099273.1 human genbank 54_36p +1 validated missense c.2564 p.M855T 1.000 HMMPfam_Beach,superfamily_BEACH domain HMMPfam_Beach,superfamily_BEACH domain,HMMSmart_SM00320,superfamily_WD40 repeat-like,HMMPfam_WD40,superfamily_PH domain-like - no_errors 81 4 4.71 46 26 36.11 NA NA NA +IDH1 0 genome.wustl.edu 37 2 209113112 209113112 + Missense_Mutation SNP C C T rs121913500 TCGA-AB-2945-03A-01W-0733-08 TCGA-AB-2945-11A-01W-0732-08 C C C T C C Verified Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq 1 dbGAP Illumina HiSeq 45e961ad-9a6a-49ed-9e69-d80020ab93f3 c19658a4-1073-42aa-aa50-ab3140760804 2 208821357 208821357 C T SNP IDH1 NM_005896.2 human genbank 54_36p -1 reviewed missense c.395 p.R132H 1.000 HMMPfam_Iso_dh,superfamily_Isocitrate/Isopropylmalate dehydrogenase-like HMMPfam_Iso_dh,PatternScan_IDH_IMDH,superfamily_Isocitrate/Isopropylmalate dehydrogenase-like - no_errors 70 2 2.70 33 14 29.17 NA NA NA +KIT 0 genome.wustl.edu 37 4 55599321 55599321 + Missense_Mutation SNP A A T rs121913507 TCGA-AB-2945-03A-01W-0733-08 TCGA-AB-2945-11A-01W-0732-08 A A A T A A Verified Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq 1 dbGAP Illumina HiSeq 45e961ad-9a6a-49ed-9e69-d80020ab93f3 c19658a4-1073-42aa-aa50-ab3140760804 4 55294078 55294078 A T SNP KIT NM_000222.2 human genbank 54_36p +1 reviewed missense c.2447 p.D816V 1.000 HMMPfam_Pkinase_Tyr,HMMSmart_TyrKc,superfamily_Kinase_like HMMPfam_Pkinase_Tyr,HMMSmart_TyrKc,PatternScan_RECEPTOR_TYR_KIN_III,HMMSmart_IGc2,HMMSmart_IG,PatternScan_PROTEIN_KINASE_TYR,superfamily_Kinase_like,HMMPfam_ig,PatternScan_PROTEIN_KINASE_ATP,superfamily_SSF48726 - no_errors 74 4 5.00 23 29 55.77 NA NA NA +ADAMTS12 0 genome.wustl.edu 37 5 33637780 33637780 + Missense_Mutation SNP C C T TCGA-AB-2945-03A-01W-0733-08 TCGA-AB-2945-11A-01W-0732-08 C C C T C C Verified Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq 1 dbGAP Illumina HiSeq 45e961ad-9a6a-49ed-9e69-d80020ab93f3 c19658a4-1073-42aa-aa50-ab3140760804 5 33673537 33673537 C T SNP ADAMTS12 NM_030955.2 human genbank 54_36p -1 reviewed missense c.1790 p.R597H 0.082 HMMSmart_SM00209 HMMPfam_TSP_1,HMMSmart_SM00209,superfamily_TSP-1 type 1 repeat,HMMPfam_Reprolysin,HMMPfam_Pep_M12B_propep,HMMPfam_ADAM_spacer1,superfamily_Metalloproteases ("zincins") catalytic domain - no_errors 122 10 7.52 98 43 30.50 NA NA NA +SPACA1 0 genome.wustl.edu 37 6 88763681 88763681 + Missense_Mutation SNP G G A TCGA-AB-2945-03A-01W-0733-08 TCGA-AB-2945-11A-01W-0732-08 G G G A G G Verified Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq 1 dbGAP Illumina HiSeq 45e961ad-9a6a-49ed-9e69-d80020ab93f3 c19658a4-1073-42aa-aa50-ab3140760804 6 88820400 88820400 G A SNP SPACA1 NM_030960.2 human genbank 54_36p +1 reviewed missense c.226 p.V76I 0.426 NULL NULL - no_errors 94 4 4.08 57 20 25.97 NA NA NA +C10orf120 0 genome.wustl.edu 37 10 124457269 124457269 + Missense_Mutation SNP C C G TCGA-AB-2945-03A-01W-0733-08 TCGA-AB-2945-11A-01W-0732-08 C C C G C C Verified Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq 1 dbGAP Illumina HiSeq 45e961ad-9a6a-49ed-9e69-d80020ab93f3 c19658a4-1073-42aa-aa50-ab3140760804 10 124447259 124447259 C G SNP C10orf120 NM_001010912.1 human genbank 54_36p -1 predicted missense c.988 p.A330P 0.000 NULL NULL - no_errors 171 10 5.41 68 41 37.61 NA NA NA +DTX4 0 genome.wustl.edu 37 11 58949357 58949357 + Silent SNP G G A TCGA-AB-2945-03A-01W-0733-08 TCGA-AB-2945-11A-01W-0732-08 G G G A G G Verified Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq 1 dbGAP Illumina HiSeq 45e961ad-9a6a-49ed-9e69-d80020ab93f3 c19658a4-1073-42aa-aa50-ab3140760804 11 58705933 58705933 G A SNP DTX4 NM_015177.1 human genbank 54_36p +1 validated silent c.357 p.K119 1.000 HMMPfam_WWE,HMMSmart_SM00678 HMMSmart_SM00184,HMMPfam_WWE,HMMSmart_SM00678,HMMPfam_zf-C3HC4,superfamily_RING/U-box - no_errors 178 11 5.79 25 20 44.44 NA NA NA +CARD18 0 genome.wustl.edu 37 11 105009793 105009793 + Missense_Mutation SNP C C T TCGA-AB-2945-03A-01W-0733-08 TCGA-AB-2945-11A-01W-0732-08 C C C T C C Verified Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq 1 dbGAP Illumina HiSeq 45e961ad-9a6a-49ed-9e69-d80020ab93f3 c19658a4-1073-42aa-aa50-ab3140760804 11 104515003 104515003 C T SNP CARD18 NM_021571.2 human genbank 54_36p -1 validated missense c.20 p.R7H 0.000 HMMPfam_CARD,HMMSmart_CARD,superfamily_DEATH_like HMMPfam_CARD,HMMSmart_CARD,superfamily_DEATH_like - no_errors 170 22 11.34 76 65 45.77 NA NA NA +FLT3 0 genome.wustl.edu 37 13 28592640 28592640 + Missense_Mutation SNP A A T rs121913487 TCGA-AB-2945-03A-01W-0733-08 TCGA-AB-2945-11A-01W-0732-08 A A A T A A Verified Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq 1 dbGAP Illumina HiSeq 45e961ad-9a6a-49ed-9e69-d80020ab93f3 c19658a4-1073-42aa-aa50-ab3140760804 13 27490640 27490640 A T SNP FLT3 NM_004119.2 human genbank 54_36p -1 reviewed missense c.2505 p.D835E 0.991 HMMPfam_Pkinase_Tyr,HMMSmart_TyrKc,superfamily_Kinase_like HMMPfam_Pkinase_Tyr,HMMSmart_TyrKc,PatternScan_RECEPTOR_TYR_KIN_III,PatternScan_PROTEIN_KINASE_TYR,superfamily_Kinase_like,HMMPfam_ig,PatternScan_PROTEIN_KINASE_ATP,superfamily_SSF48726 - no_errors 119 6 4.55 40 10 20.00 NA NA NA +SDR42E1 0 genome.wustl.edu 37 16 82033078 82033078 + Missense_Mutation SNP C C T TCGA-AB-2945-03A-01W-0733-08 TCGA-AB-2945-11A-01W-0732-08 C C C T C C Verified Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq 1 dbGAP Illumina HiSeq 45e961ad-9a6a-49ed-9e69-d80020ab93f3 c19658a4-1073-42aa-aa50-ab3140760804 16 80590579 80590579 C T SNP SDR42E1 NM_145168.2 human genbank 54_36p -1 validated missense c.820 p.G274S 1.000 HMMPfam_3Beta_HSD,superfamily_NAD(P)-bd HMMPfam_3Beta_HSD,superfamily_NAD(P)-bd - no_errors 101 9 8.04 32 23 41.82 NA NA NA +NPM1 0 genome.wustl.edu 37 5 170837547 170837548 + Frame_Shift_Ins INS - - TCTG TCGA-AB-2945-03A-01W-0733-08 TCGA-AB-2945-11A-01W-0732-08 - - - TCTG - - Verified Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq 1 dbGAP Illumina HiSeq 45e961ad-9a6a-49ed-9e69-d80020ab93f3 c19658a4-1073-42aa-aa50-ab3140760804 5 170770152 170770153 - TCTG INS NPM1 NM_002520.1 human genbank 54_36p +1 validated frame_shift_ins c.863_864 p.W288fs 1.000:1.000 NULL HMMPfam_Nucleoplasmin,superfamily_Nucleoplasmin-like core domain - no_errors NA NA NA NA NA NA NA NA NA +POLA2 0 genome.wustl.edu 37 11 65029832 65029836 + Frame_Shift_Del DEL AATTG AATTG - TCGA-AB-2945-03A-01W-0733-08 TCGA-AB-2945-11A-01W-0732-08 AATTG AATTG AATTG - AATTG AATTG Verified Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq 1 dbGAP Illumina HiSeq 45e961ad-9a6a-49ed-9e69-d80020ab93f3 c19658a4-1073-42aa-aa50-ab3140760804 11 64786408 64786412 AATTG - DEL POLA2 NM_002689.2 human genbank 54_36p +1 provisional frame_shift_del c.69_73 p.I24fs 0.000:0.000:0.000:0.004:0.836 HMMPfam_Pol_alpha_B_N HMMPfam_DNA_pol_E_B,HMMPfam_Pol_alpha_B_N - no_errors NA NA NA NA NA NA NA NA NA +FASTKD3 0 genome.wustl.edu 37 5 7867321 7867321 + Silent SNP A A G TCGA-AB-2946-03A-01W-0755-09 TCGA-AB-2946-11A-01W-0755-09 A A A G A A Verified Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq 1 dbGAP Illumina HiSeq f24b41b4-79bf-4736-96c8-83921811bb95 f99d043f-2e11-48a5-b84d-6796ecc20a13 5 7920321 7920321 A G SNP FASTKD3 NM_024091.2 human genbank 54_36p -1 validated silent c.876 p.S292 0.982 NULL HMMPfam_FAST_1,HMMPfam_FAST_2,HMMPfam_RAP - no_errors 68 5 6.76 103 26 20.16 10 0 0.00 +CUEDC1 0 genome.wustl.edu 37 17 55962641 55962641 + Silent SNP G G A TCGA-AB-2946-03A-01W-0755-09 TCGA-AB-2946-11A-01W-0755-09 G G G A G G Verified Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq 1 dbGAP Illumina HiSeq f24b41b4-79bf-4736-96c8-83921811bb95 f99d043f-2e11-48a5-b84d-6796ecc20a13 17 53317640 53317640 G A SNP CUEDC1 NM_017949.1 human genbank 54_36p -1 provisional silent c.285 p.S95 0.809 NULL HMMPfam_CUE,HMMSmart_SM00546,superfamily_UBA-like - no_errors 8 0 0.00 21 19 47.50 2 4 66.67 +ZBED4 0 genome.wustl.edu 37 22 50277761 50277761 + Missense_Mutation SNP G G C TCGA-AB-2946-03A-01W-0755-09 TCGA-AB-2946-11A-01W-0755-09 G G G C G G Verified Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq 1 dbGAP Illumina HiSeq f24b41b4-79bf-4736-96c8-83921811bb95 f99d043f-2e11-48a5-b84d-6796ecc20a13 22 48663765 48663765 G C SNP ZBED4 NM_014838.2 human genbank 54_36p +1 validated missense c.451 p.D151H 1.000 HMMPfam_zf-BED,HMMSmart_SM00614 HMMPfam_zf-BED,HMMSmart_SM00614,HMMPfam_hATC - no_errors 64 1 1.52 102 18 15.00 53 8 13.11 +DNMT3A 0 genome.wustl.edu 37 2 25457242 25457242 + Missense_Mutation SNP C C T TCGA-AB-2947-03A-01W-0745-08 TCGA-AB-2947-11A-01W-0745-08 C C C T C C Verified Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq 1 dbGAP Illumina HiSeq 5a362de8-3eda-4d14-8f7a-4c2f38fbf96d 8e6fb312-582b-48d3-ae94-aa714e2c23fb 2 25310746 25310746 C T SNP DNMT3A NM_022552.3 human genbank 54_36p -1 reviewed missense c.2645 p.R882H 1.000 superfamily_S-adenosyl-L-methionine-dependent methyltransferases HMMPfam_PWWP,HMMSmart_SM00293,HMMPfam_DNA_methylase,superfamily_FYVE/PHD zinc finger,PatternScan_C5_MTASE_1,superfamily_S-adenosyl-L-methionine-dependent methyltransferases,superfamily_Tudor/PWWP/MBT - no_errors 53 14 20.90 47 32 40.00 NA NA NA +ENSG00000159247 0 genome.wustl.edu 37 9 141070741 141070741 + Silent SNP C C G TCGA-AB-2947-03A-01W-0745-08 TCGA-AB-2947-11A-01W-0745-08 C C C G C C Verified Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq 1 dbGAP Illumina HiSeq 5a362de8-3eda-4d14-8f7a-4c2f38fbf96d 8e6fb312-582b-48d3-ae94-aa714e2c23fb 9 140190562 140190562 C G SNP ENSG00000159247 ENST00000290377 human ensembl 54_36p +1 known silent c.360 p.V120 1.000 HMMPfam_Tubulin,superfamily_Tubulin nucleotide-binding domain-like HMMPfam_Tubulin,superfamily_Tubulin C-terminal domain-like,PatternScan_TUBULIN,HMMPfam_Tubulin_C,superfamily_Tubulin nucleotide-binding domain-like - no_start_codon 7 0 0.00 8 1 11.11 NA NA NA +FLT3 0 genome.wustl.edu 37 13 28592642 28592642 + Missense_Mutation SNP C C A rs121913488 TCGA-AB-2947-03A-01W-0745-08 TCGA-AB-2947-11A-01W-0745-08 C C C A C C Verified Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq 1 dbGAP Illumina HiSeq 5a362de8-3eda-4d14-8f7a-4c2f38fbf96d 8e6fb312-582b-48d3-ae94-aa714e2c23fb 13 27490642 27490642 C A SNP FLT3 NM_004119.2 human genbank 54_36p -1 reviewed missense c.2503 p.D835Y 1.000 HMMPfam_Pkinase_Tyr,HMMSmart_TyrKc,superfamily_Kinase_like HMMPfam_Pkinase_Tyr,HMMSmart_TyrKc,PatternScan_RECEPTOR_TYR_KIN_III,PatternScan_PROTEIN_KINASE_TYR,superfamily_Kinase_like,HMMPfam_ig,PatternScan_PROTEIN_KINASE_ATP,superfamily_SSF48726 - no_errors 59 30 33.71 37 32 45.71 NA NA NA +CLEC18B 0 genome.wustl.edu 37 16 74444758 74444758 + Missense_Mutation SNP T T C TCGA-AB-2947-03A-01W-0745-08 TCGA-AB-2947-11A-01W-0745-08 T T T C T T Verified Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq 1 dbGAP Illumina HiSeq 5a362de8-3eda-4d14-8f7a-4c2f38fbf96d 8e6fb312-582b-48d3-ae94-aa714e2c23fb 16 73002259 73002259 T C SNP CLEC18B ENST00000268492 human ensembl 54_36p -1 known missense c.17 p.D6G 0.000 NULL HMMPfam_Lectin_C,superfamily_C-type lectin-like,PatternScan_C_TYPE_LECTIN_1 - no_start_codon 25 1 3.85 28 4 12.50 NA NA NA +NPM1 0 genome.wustl.edu 37 5 170837547 170837548 + Frame_Shift_Ins INS - - TCTG TCGA-AB-2947-03A-01W-0745-08 TCGA-AB-2947-11A-01W-0745-08 - - - TCTG - - Verified Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq 1 dbGAP Illumina HiSeq 5a362de8-3eda-4d14-8f7a-4c2f38fbf96d 8e6fb312-582b-48d3-ae94-aa714e2c23fb 5 170770152 170770153 - TCTG INS NPM1 NM_002520.1 human genbank 54_36p +1 validated frame_shift_ins c.863_864 p.W288fs 1.000:1.000 NULL HMMPfam_Nucleoplasmin,superfamily_Nucleoplasmin-like core domain - no_errors NA NA NA NA NA NA NA NA NA +IDH2 0 genome.wustl.edu 37 15 90631934 90631934 + Missense_Mutation SNP C C T rs121913502 TCGA-AB-2948-03A-01W-0755-09 TCGA-AB-2948-11A-01W-0755-09 C C C T C C Verified Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq 1 dbGAP Illumina HiSeq 7b0fb197-8465-430b-9da7-322f2d218729 dbbec382-9c71-4ce4-b439-9e8a6eece4b8 15 88432938 88432938 C T SNP IDH2 NM_002168.2 human genbank 54_36p -1 reviewed missense c.419 p.R140Q 1.000 HMMPfam_Iso_dh,superfamily_Isocitrate/Isopropylmalate dehydrogenase-like HMMPfam_Iso_dh,PatternScan_IDH_IMDH,superfamily_Isocitrate/Isopropylmalate dehydrogenase-like - no_errors 75 15 16.30 32 28 46.67 178 146 44.92 +PDCL3 0 genome.wustl.edu 37 2 101183018 101183019 + Frame_Shift_Ins INS - - C TCGA-AB-2948-03A-01W-0755-09 TCGA-AB-2948-11A-01W-0755-09 - - - C - - Verified Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq 1 dbGAP Illumina HiSeq 7b0fb197-8465-430b-9da7-322f2d218729 dbbec382-9c71-4ce4-b439-9e8a6eece4b8 2 100549450 100549451 - C INS PDCL3 NM_024065.4 human genbank 54_36p +1 validated frame_shift_ins c.60_61 p.K22fs 0.997:1.000 HMMPfam_Phosducin,superfamily_Thiordxn-like_fd HMMPfam_Phosducin,superfamily_Thiordxn-like_fd - no_errors 26 0 0.00 34 3 8.11 1 0 0.00 +DNMT3A 0 genome.wustl.edu 37 2 25457242 25457242 + Missense_Mutation SNP C C T TCGA-AB-2949-03A-01W-0733-08 TCGA-AB-2949-11A-01W-0732-08 C C C T C C Verified Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq 1 dbGAP Illumina HiSeq 93918a62-e102-4cf1-a403-81845f830c3e ed5227d3-b5bf-4356-a6c2-3af0065be735 2 25310746 25310746 C T SNP DNMT3A NM_022552.3 human genbank 54_36p -1 reviewed missense c.2645 p.R882H 1.000 superfamily_S-adenosyl-L-methionine-dependent methyltransferases HMMPfam_PWWP,HMMSmart_SM00293,HMMPfam_DNA_methylase,superfamily_FYVE/PHD zinc finger,PatternScan_C5_MTASE_1,superfamily_S-adenosyl-L-methionine-dependent methyltransferases,superfamily_Tudor/PWWP/MBT - no_errors 112 8 6.67 26 21 44.68 45 60 57.14 +LOC129293 0 genome.wustl.edu 37 2 85097654 85097654 + Missense_Mutation SNP G G T TCGA-AB-2949-03A-01W-0733-08 TCGA-AB-2949-11A-01W-0732-08 G G G T G G Verified Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq 1 dbGAP Illumina HiSeq 93918a62-e102-4cf1-a403-81845f830c3e ed5227d3-b5bf-4356-a6c2-3af0065be735 2 84951165 84951165 G T SNP LOC129293 NM_001080824.1 human genbank 54_36p -1 predicted missense c.364 p.R122S 0.997 NULL NULL - no_errors 65 2 2.99 23 22 48.89 NA NA NA +IDH1 0 genome.wustl.edu 37 2 209113112 209113112 + Missense_Mutation SNP C C T rs121913500 TCGA-AB-2949-03A-01W-0733-08 TCGA-AB-2949-11A-01W-0732-08 C C C T C C Verified Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq 1 dbGAP Illumina HiSeq 93918a62-e102-4cf1-a403-81845f830c3e ed5227d3-b5bf-4356-a6c2-3af0065be735 2 208821357 208821357 C T SNP IDH1 NM_005896.2 human genbank 54_36p -1 reviewed missense c.395 p.R132H 1.000 HMMPfam_Iso_dh,superfamily_Isocitrate/Isopropylmalate dehydrogenase-like HMMPfam_Iso_dh,PatternScan_IDH_IMDH,superfamily_Isocitrate/Isopropylmalate dehydrogenase-like - no_errors 86 6 6.52 32 25 43.86 37 23 38.33 +SLC4A3 0 genome.wustl.edu 37 2 220505322 220505322 + Splice_Site SNP G G A TCGA-AB-2949-03A-01W-0733-08 TCGA-AB-2949-11A-01W-0732-08 G G G A G G Verified Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq 1 dbGAP Illumina HiSeq 93918a62-e102-4cf1-a403-81845f830c3e ed5227d3-b5bf-4356-a6c2-3af0065be735 2 220213566 220213566 G A SNP SLC4A3 NM_201574.3 human genbank 54_36p +1 validated splice_site c.3528+1 e20+1 1.000 - - - no_errors 110 1 0.89 52 9 14.75 0 0 0.00 +SPHKAP 0 genome.wustl.edu 37 2 228996763 228996763 + Missense_Mutation SNP G G A TCGA-AB-2949-03A-01W-0733-08 TCGA-AB-2949-11A-01W-0732-08 G G G A G G Verified Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq 1 dbGAP Illumina HiSeq 93918a62-e102-4cf1-a403-81845f830c3e ed5227d3-b5bf-4356-a6c2-3af0065be735 2 228705007 228705007 G A SNP SPHKAP NM_030623.1 human genbank 54_36p -1 validated missense c.71 p.P24L 0.000 NULL HMMPfam_AKAP_110 - no_errors 85 1 1.16 54 32 37.21 NA NA NA +LRCH3 0 genome.wustl.edu 37 3 197556523 197556523 + Missense_Mutation SNP G G A TCGA-AB-2949-03A-01W-0733-08 TCGA-AB-2949-11A-01W-0732-08 G G G A G G Verified Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq 1 dbGAP Illumina HiSeq 93918a62-e102-4cf1-a403-81845f830c3e ed5227d3-b5bf-4356-a6c2-3af0065be735 3 199040920 199040920 G A SNP LRCH3 NM_032773.2 human genbank 54_36p +1 provisional missense c.866 p.R289K 1.000 superfamily_SSF52058 HMMPfam_LRR_1,superfamily_Calponin-homology,superfamily_SSF52058 - no_errors 109 2 1.79 65 58 46.77 14 18 56.25 +ST8SIA4 0 genome.wustl.edu 37 5 100222185 100222185 + Missense_Mutation SNP T T C TCGA-AB-2949-03A-01W-0733-08 TCGA-AB-2949-11A-01W-0732-08 T T T C T T Verified Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq 1 dbGAP Illumina HiSeq 93918a62-e102-4cf1-a403-81845f830c3e ed5227d3-b5bf-4356-a6c2-3af0065be735 5 100250084 100250084 T C SNP ST8SIA4 NM_005668.4 human genbank 54_36p -1 reviewed missense c.365 p.H122R 0.997 HMMPfam_Glyco_transf_29 HMMPfam_Glyco_transf_29 - no_errors 56 2 3.33 33 27 45.00 30 25 45.45 +NMUR2 0 genome.wustl.edu 37 5 151784554 151784554 + Missense_Mutation SNP G G A TCGA-AB-2949-03A-01W-0733-08 TCGA-AB-2949-11A-01W-0732-08 G G G A G G Verified Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq 1 dbGAP Illumina HiSeq 93918a62-e102-4cf1-a403-81845f830c3e ed5227d3-b5bf-4356-a6c2-3af0065be735 5 151764747 151764747 G A SNP NMUR2 NM_020167.4 human genbank 54_36p -1 reviewed missense c.121 p.R41C 0.866 superfamily_Family A G protein-coupled receptor-like HMMPfam_7tm_1,PatternScan_G_PROTEIN_RECEP_F1_1,superfamily_Family A G protein-coupled receptor-like - no_errors 88 3 3.26 57 24 29.27 NA NA NA +VLDLR 0 genome.wustl.edu 37 9 2652945 2652945 + Missense_Mutation SNP C C G TCGA-AB-2949-03A-01W-0733-08 TCGA-AB-2949-11A-01W-0732-08 C C C G C C Verified Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq 1 dbGAP Illumina HiSeq 93918a62-e102-4cf1-a403-81845f830c3e ed5227d3-b5bf-4356-a6c2-3af0065be735 9 2642945 2642945 C G SNP VLDLR NM_003383.1 human genbank 54_36p +1 validated missense c.2582 p.P861R 1.000 NULL HMMPfam_Ldl_recept_b,HMMSmart_SM00135,PatternScan_ASX_HYDROXYL,HMMSmart_SM00179,HMMPfam_Ldl_recept_a,HMMSmart_SM00192,PatternScan_LDLRA_1,superfamily_LDL receptor-like module,HMMPfam_EGF,HMMSmart_SM00181,PatternScan_EGF_2,HMMPfam_EGF_CA,PatternScan_EGF_CA,superfamily_EGF/Laminin,superfamily_YWTD domain - no_errors 76 1 1.30 53 53 50.00 1 0 0.00 +CHD4 0 genome.wustl.edu 37 12 6701583 6701583 + Missense_Mutation SNP C C T TCGA-AB-2949-03A-01W-0733-08 TCGA-AB-2949-11A-01W-0732-08 C C C T C C Verified Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq 1 dbGAP Illumina HiSeq 93918a62-e102-4cf1-a403-81845f830c3e ed5227d3-b5bf-4356-a6c2-3af0065be735 12 6571844 6571844 C T SNP CHD4 NM_001273.2 human genbank 54_36p -1 reviewed missense c.2924 p.R975H 1.000 HMMPfam_SNF2_N HMMPfam_SNF2_N,HMMPfam_Chromo,HMMSmart_SM00298,PatternScan_CHROMO_1,HMMPfam_Helicase_C,HMMSmart_SM00490,HMMSmart_SM00249,PatternScan_DEAH_ATP_HELICASE,HMMPfam_DUF1086,HMMPfam_DUF1087,superfamily_FYVE/PHD zinc finger,HMMPfam_CHDCT2,HMMPfam_CHDNT,HMMSmart_SM00487,superfamily_Chromo domain-like,PatternScan_ZF_PHD_1,HMMPfam_PHD,superfamily_P-loop containing nucleoside triphosphate hydrolases - no_errors 198 8 3.86 146 54 26.87 175 67 27.69 +ORAI1 0 genome.wustl.edu 37 12 122078953 122078953 + Missense_Mutation SNP A A G TCGA-AB-2949-03A-01W-0733-08 TCGA-AB-2949-11A-01W-0732-08 A A A G A A Verified Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq 1 dbGAP Illumina HiSeq 93918a62-e102-4cf1-a403-81845f830c3e ed5227d3-b5bf-4356-a6c2-3af0065be735 12 120563336 120563336 A G SNP ORAI1 NM_032790.3 human genbank 54_36p +1 reviewed missense c.316 p.M106V 0.997 HMMPfam_DUF1650 HMMPfam_DUF1650 - no_errors 129 3 2.24 52 22 29.73 107 64 37.43 +NRXN3 0 genome.wustl.edu 37 14 79175740 79175740 + Missense_Mutation SNP A A G TCGA-AB-2949-03A-01W-0733-08 TCGA-AB-2949-11A-01W-0732-08 A A A G A A Verified Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq 1 dbGAP Illumina HiSeq 93918a62-e102-4cf1-a403-81845f830c3e ed5227d3-b5bf-4356-a6c2-3af0065be735 14 78245493 78245493 A G SNP NRXN3 NM_004796.1 human genbank 54_36p +1 reviewed missense c.283 p.M95V 0.998 HMMSmart_LamG,superfamily_ConA_like_lec_gl PatternScan_ASX_HYDROXYL,HMMSmart_LamG,HMMSmart_4.1m,HMMPfam_EGF,HMMSmart_EGF,superfamily_ConA_like_lec_gl,HMMPfam_Laminin_G_2 - no_errors 115 2 1.71 50 26 33.77 NA NA NA +LOC646090 0 genome.wustl.edu 37 15 20467150 20467150 + RNA SNP G G C TCGA-AB-2949-03A-01W-0733-08 TCGA-AB-2949-11A-01W-0732-08 G G G C G G Verified Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq 1 dbGAP Illumina HiSeq 93918a62-e102-4cf1-a403-81845f830c3e ed5227d3-b5bf-4356-a6c2-3af0065be735 15 18727164 18727164 G C SNP LOC646090 XR_017120.2 human genbank 54_36p -1 model rna NULL NULL 0.961 - - - pseudogene 276 7 2.44 53 26 32.91 NA NA NA +CCL11 0 genome.wustl.edu 37 17 32614641 32614641 + Missense_Mutation SNP C C T TCGA-AB-2949-03A-01W-0733-08 TCGA-AB-2949-11A-01W-0732-08 C C C T C C Verified Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq 1 dbGAP Illumina HiSeq 93918a62-e102-4cf1-a403-81845f830c3e ed5227d3-b5bf-4356-a6c2-3af0065be735 17 29638754 29638754 C T SNP CCL11 NM_002986.2 human genbank 54_36p +1 reviewed missense c.226 p.P76S 0.992 HMMPfam_IL8,HMMSmart_SM00199,superfamily_Interleukin 8-like chemokines PatternScan_SMALL_CYTOKINES_CC,HMMPfam_IL8,HMMSmart_SM00199,superfamily_Interleukin 8-like chemokines - no_errors 53 1 1.82 49 36 42.35 NA NA NA +SUZ12 0 genome.wustl.edu 37 17 30310021 30310022 + Frame_Shift_Del DEL CT CT - TCGA-AB-2949-03A-01W-0733-08 TCGA-AB-2949-11A-01W-0732-08 CT CT CT - CT CT Verified Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq 1 dbGAP Illumina HiSeq 93918a62-e102-4cf1-a403-81845f830c3e ed5227d3-b5bf-4356-a6c2-3af0065be735 17 27334134 27334135 CT - DEL SUZ12 NM_015355.2 human genbank 54_36p +1 reviewed frame_shift_del c.921_922 p.L308fs 0.998:0.998 NULL PatternScan_ZINC_FINGER_C2H2_1,HMMSmart_ZnF_C2H2,HMMPfam_VEFS-Box - no_errors 0 2 4.08 0 11 40.74 0 0 0.00 +NCOA3 0 genome.wustl.edu 37 20 46264338 46264338 + Frame_Shift_Del DEL A A - TCGA-AB-2949-03A-01W-0733-08 TCGA-AB-2949-11A-01W-0732-08 A A A - A A Verified Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq 1 dbGAP Illumina HiSeq 93918a62-e102-4cf1-a403-81845f830c3e ed5227d3-b5bf-4356-a6c2-3af0065be735 20 45697745 45697745 A - DEL NCOA3 NM_181659.2 human genbank 54_36p +1 reviewed frame_shift_del c.1385 p.N462fs 0.984 NULL HMMSmart_SM00091,HMMPfam_HLH,HMMSmart_SM00353,superfamily_Nuclear receptor coactivator interlocking domain,HMMPfam_DUF1518,superfamily_HLH helix-loop-helix DNA-binding domain,HMMPfam_PAS,HMMPfam_Nuc_rec_co-act,HMMPfam_SRC-1,superfamily_PYP-like sensor domain (PAS domain) - no_errors 141 0 0.00 92 0 0.00 28 0 0.00 +RUNX1 0 genome.wustl.edu 37 21 36171624 36171625 + Frame_Shift_Del DEL AG AG - TCGA-AB-2949-03A-01W-0733-08 TCGA-AB-2949-11A-01W-0732-08 AG AG AG - AG AG Verified Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq 1 dbGAP Illumina HiSeq 93918a62-e102-4cf1-a403-81845f830c3e ed5227d3-b5bf-4356-a6c2-3af0065be735 21 35093494 35093495 AG - DEL RUNX1 NM_001754.2 human genbank 54_36p -1 reviewed frame_shift_del c.941_940 p.S314fs 1.000:1.000 NULL superfamily_p53-like transcription factors,HMMPfam_Runt,HMMPfam_RunxI - no_errors 0 0 0.00 0 0 0.00 0 0 0.00 +LHCGR 0 genome.wustl.edu 37 2 48936146 48936146 + Silent SNP G G A TCGA-AB-2950-03A-01W-0733-08 TCGA-AB-2950-11A-01W-0732-08 G G G A G G Verified Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq 1 dbGAP Illumina HiSeq dce07a7f-06d3-415f-a454-8ebdf7244d4f 87d2a3f8-e5bd-4b87-bde0-2c2b49f2b42e 2 48789650 48789650 G A SNP LHCGR NM_000233.3 human genbank 54_36p -1 reviewed silent c.621 p.N207 0.019 superfamily_L domain-like HMMPfam_7tm_1,PatternScan_G_PROTEIN_RECEP_F1_1,superfamily_L domain-like,superfamily_Family A G protein-coupled receptor-like - no_errors 137 3 2.14 259 175 40.14 NA NA NA +ACOXL 0 genome.wustl.edu 37 2 111542370 111542370 + Missense_Mutation SNP C C T TCGA-AB-2950-03A-01W-0733-08 TCGA-AB-2950-11A-01W-0732-08 C C C T C C Verified Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq 1 dbGAP Illumina HiSeq dce07a7f-06d3-415f-a454-8ebdf7244d4f 87d2a3f8-e5bd-4b87-bde0-2c2b49f2b42e 2 111258841 111258841 C T SNP ACOXL NM_001105516.2 human genbank 54_36p +1 validated missense c.137 p.A46V 0.187 superfamily_Acyl-CoA dehydrogenase NM domain-like HMMPfam_Acyl-CoA_dh_1,HMMPfam_Acyl-CoA_dh_M,superfamily_Acyl-CoA dehydrogenase C-terminal domain-like,superfamily_Acyl-CoA dehydrogenase NM domain-like - no_errors 79 2 2.44 93 70 42.94 NA NA NA +NAALADL2 0 genome.wustl.edu 37 3 175165096 175165096 + Silent SNP G G A TCGA-AB-2950-03A-01W-0733-08 TCGA-AB-2950-11A-01W-0732-08 G G G A G G Verified Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq 1 dbGAP Illumina HiSeq dce07a7f-06d3-415f-a454-8ebdf7244d4f 87d2a3f8-e5bd-4b87-bde0-2c2b49f2b42e 3 176647790 176647790 G A SNP NAALADL2 NM_207015.2 human genbank 54_36p +1 validated silent c.1170 p.L390 0.953 superfamily_Transferrin receptor ectodomain apical domain,superfamily_Zn-dependent exopeptidases superfamily_Transferrin receptor ectodomain C-terminal domain,PatternScan_GLYCOSYL_HYDROL_F5,superfamily_Transferrin receptor ectodomain apical domain,superfamily_Zn-dependent exopeptidases - no_errors 68 0 0.00 59 44 42.72 1 0 0.00 +KIAA1109 0 genome.wustl.edu 37 4 123202879 123202879 + Missense_Mutation SNP C C G TCGA-AB-2950-03A-01W-0733-08 TCGA-AB-2950-11A-01W-0732-08 C C C G C C Verified Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq 1 dbGAP Illumina HiSeq dce07a7f-06d3-415f-a454-8ebdf7244d4f 87d2a3f8-e5bd-4b87-bde0-2c2b49f2b42e 4 123422329 123422329 C G SNP KIAA1109 NM_015312.2 human genbank 54_36p +1 validated missense c.8987 p.S2996C 1.000 NULL PatternScan_ASP_PROTEASE,HMMPfam_FSA_C - no_errors 69 1 1.43 52 50 49.02 20 24 54.55 +GRID1 0 genome.wustl.edu 37 10 87407082 87407082 + Nonsense_Mutation SNP G G T TCGA-AB-2950-03A-01W-0733-08 TCGA-AB-2950-11A-01W-0732-08 G G G T G G Verified Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq 1 dbGAP Illumina HiSeq dce07a7f-06d3-415f-a454-8ebdf7244d4f 87d2a3f8-e5bd-4b87-bde0-2c2b49f2b42e 10 87397062 87397062 G T SNP GRID1 NM_017551.2 human genbank 54_36p -1 reviewed nonsense c.2070 p.Y690* 1.000 HMMPfam_Lig_chan,HMMSmart_SM00079,superfamily_Periplasmic binding protein-like II HMMPfam_Lig_chan,HMMSmart_SM00079,HMMPfam_ANF_receptor,PatternScan_ALDEHYDE_DEHYDR_GLU,HMMPfam_Lig_chan-Glu_bd,superfamily_Periplasmic binding protein-like I,superfamily_Periplasmic binding protein-like II - no_errors 147 3 1.95 209 70 25.09 NA NA NA +SMC3 0 genome.wustl.edu 37 10 112360890 112360890 + Splice_Site SNP T T C TCGA-AB-2950-03A-01W-0733-08 TCGA-AB-2950-11A-01W-0732-08 T T T C T T Verified Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq 1 dbGAP Illumina HiSeq dce07a7f-06d3-415f-a454-8ebdf7244d4f 87d2a3f8-e5bd-4b87-bde0-2c2b49f2b42e 10 112350880 112350880 T C SNP SMC3 NM_005445.3 human genbank 54_36p +1 reviewed splice_site c.2644+2 e23+2 0.991 - - - no_errors 31 2 5.71 26 24 48.00 1 56 98.25 +EHD1 0 genome.wustl.edu 37 11 64627708 64627708 + Silent SNP C C T TCGA-AB-2950-03A-01W-0733-08 TCGA-AB-2950-11A-01W-0732-08 C C C T C C Verified Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq 1 dbGAP Illumina HiSeq dce07a7f-06d3-415f-a454-8ebdf7244d4f 87d2a3f8-e5bd-4b87-bde0-2c2b49f2b42e 11 64384284 64384284 C T SNP EHD1 NM_006795.2 human genbank 54_36p -1 reviewed silent c.603 p.S201 0.208 HMMPfam_Dynamin_N,superfamily_P-loop containing nucleoside triphosphate hydrolases HMMSmart_SM00027,HMMPfam_Dynamin_N,PatternScan_EF_HAND_1,superfamily_EF-hand,superfamily_P-loop containing nucleoside triphosphate hydrolases - no_errors 35 1 2.78 68 30 30.61 58 34 36.96 +COPS2 0 genome.wustl.edu 37 15 49447748 49447748 + Missense_Mutation SNP A A C TCGA-AB-2950-03A-01W-0733-08 TCGA-AB-2950-11A-01W-0732-08 A A A C A A Verified Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq 1 dbGAP Illumina HiSeq dce07a7f-06d3-415f-a454-8ebdf7244d4f 87d2a3f8-e5bd-4b87-bde0-2c2b49f2b42e 15 47235040 47235040 A C SNP COPS2 NM_004236.1 human genbank 54_36p -1 validated missense c.28 p.C10G 1.000 NULL HMMPfam_PCI,HMMSmart_SM00088,HMMSmart_SM00753,superfamily_"Winged helix" DNA-binding domain,superfamily_TPR-like - no_errors 59 2 3.28 76 48 38.71 46 33 41.77 +FCGBP 0 genome.wustl.edu 37 19 40408297 40408297 + Silent SNP C C T TCGA-AB-2950-03A-01W-0733-08 TCGA-AB-2950-11A-01W-0732-08 C C C T C C Verified Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq 1 dbGAP Illumina HiSeq dce07a7f-06d3-415f-a454-8ebdf7244d4f 87d2a3f8-e5bd-4b87-bde0-2c2b49f2b42e 19 45100137 45100137 C T SNP FCGBP NM_003890.2 human genbank 54_36p -1 validated silent c.4542 p.A1514 0.937 HMMPfam_C8 HMMSmart_VWC,HMMPfam_VWD,HMMSmart_VWD,superfamily_Cysrich_TIL,HMMPfam_TIL_assoc,HMMSmart_FOLN,HMMPfam_C8,HMMPfam_TIL - no_errors 68 2 2.86 42 80 65.57 1 0 0.00 +ARHGAP35 0 genome.wustl.edu 37 19 47423101 47423101 + Missense_Mutation SNP C C T TCGA-AB-2950-03A-01W-0733-08 TCGA-AB-2950-11A-01W-0732-08 C C C T C C Verified Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq 1 dbGAP Illumina HiSeq dce07a7f-06d3-415f-a454-8ebdf7244d4f 87d2a3f8-e5bd-4b87-bde0-2c2b49f2b42e 19 52114941 52114941 C T SNP GRLF1 NM_004491.4 human genbank 54_36p +1 reviewed missense c.1169 p.A390V 0.998 HMMSmart_SM00441 HMMPfam_RhoGAP,HMMSmart_SM00324,HMMPfam_FF,HMMSmart_SM00441,superfamily_GTPase activation domain GAP,HMMPfam_Ras,superfamily_P-loop containing nucleoside triphosphate hydrolases - no_errors 95 6 5.94 76 90 53.89 17 35 67.31 +B3GALT5 0 genome.wustl.edu 37 21 41033192 41033192 + Missense_Mutation SNP G G A TCGA-AB-2950-03A-01W-0733-08 TCGA-AB-2950-11A-01W-0732-08 G G G A G G Verified Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq 1 dbGAP Illumina HiSeq dce07a7f-06d3-415f-a454-8ebdf7244d4f 87d2a3f8-e5bd-4b87-bde0-2c2b49f2b42e 21 39955062 39955062 G A SNP B3GALT5 NM_006057.1 human genbank 54_36p +1 reviewed missense c.706 p.V236I 0.292 HMMPfam_Galactosyl_T HMMPfam_Galactosyl_T - no_errors 134 5 3.52 303 216 41.62 NA NA NA +ARHGEF6 0 genome.wustl.edu 37 X 135772783 135772783 + Frame_Shift_Del DEL C C - TCGA-AB-2950-03A-01W-0733-08 TCGA-AB-2950-11A-01W-0732-08 C C C - C C Verified Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq 1 dbGAP Illumina HiSeq dce07a7f-06d3-415f-a454-8ebdf7244d4f 87d2a3f8-e5bd-4b87-bde0-2c2b49f2b42e X 135600449 135600449 C - DEL ARHGEF6 NM_004840.2 human genbank 54_36p -1 reviewed frame_shift_del c.1171 p.E391fs 1.000 HMMPfam_RhoGEF,HMMSmart_SM00325,superfamily_DBL homology domain (DH-domain) HMMPfam_RhoGEF,HMMSmart_SM00325,superfamily_DBL homology domain (DH-domain),HMMPfam_SH3_1,HMMSmart_SM00326,superfamily_SH3-domain,HMMPfam_CH,HMMSmart_SM00033,HMMPfam_PH,HMMSmart_SM00233,superfamily_Calponin-homology domain CH-domain,superfamily_PH domain-like - no_errors 104 2 1.83 39 59 57.28 9 49 70.00 +MGA 0 genome.wustl.edu 37 15 42046641 42046642 + Frame_Shift_Del DEL TG TG - TCGA-AB-2950-03A-01W-0733-08 TCGA-AB-2950-11A-01W-0732-08 TG TG TG - TG TG Verified Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq 1 dbGAP Illumina HiSeq dce07a7f-06d3-415f-a454-8ebdf7244d4f 87d2a3f8-e5bd-4b87-bde0-2c2b49f2b42e 15 39833933 39833934 TG - DEL MGA NM_001080541.1 human genbank 54_36p +1 provisional frame_shift_del c.7162_7163 p.V2389fs 0.094:0.101 NULL HMMPfam_HLH,HMMSmart_SM00353,HMMPfam_T-box,HMMSmart_SM00425,superfamily_p53-like transcription factors,superfamily_HLH helix-loop-helix DNA-binding domain,PatternScan_TBOX_2 - no_errors 0 4 3.17 0 41 31.30 0 0 0.00 +GPR101 0 genome.wustl.edu 37 X 136113704 136113704 + Missense_Mutation SNP C C T TCGA-AB-2952-03A-01W-0733-08 TCGA-AB-2952-11A-01W-0732-08 C C C T C C Verified Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq 1 dbGAP Illumina HiSeq b522ecb6-9d9a-4fbf-806e-5a20aeed9d06 0f4c32e9-65f3-464b-aa29-65e10407a75e X 135941370 135941370 C T SNP GPR101 NM_054021.1 human genbank 54_36p -1 provisional missense c.130 p.A44T 0.001 superfamily_Family A G protein-coupled receptor-like HMMPfam_7tm_1,PatternScan_G_PROTEIN_RECEP_F1_1,superfamily_Family A G protein-coupled receptor-like - no_errors 497 36 6.72 53 38 41.30 NA NA NA +NRAS 0 genome.wustl.edu 37 1 115258747 115258747 + Missense_Mutation SNP C C T rs121913237 TCGA-AB-2952-03A-01W-0733-08 TCGA-AB-2952-11A-01W-0732-08 C C C T C C Verified Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq 1 dbGAP Illumina HiSeq b522ecb6-9d9a-4fbf-806e-5a20aeed9d06 0f4c32e9-65f3-464b-aa29-65e10407a75e 1 115060270 115060270 C T SNP NRAS NM_002524.3 human genbank 54_36p -1 reviewed missense c.35 p.G12D 1.000 HMMSmart_SM00173,HMMSmart_SM00174,HMMSmart_SM00175,HMMPfam_Ras,superfamily_P-loop containing nucleoside triphosphate hydrolases HMMSmart_SM00173,HMMSmart_SM00174,HMMSmart_SM00175,HMMPfam_Ras,superfamily_P-loop containing nucleoside triphosphate hydrolases - no_errors 207 1 0.48 266 35 11.55 43 10 18.18 +TRIM45 0 genome.wustl.edu 37 1 117663343 117663343 + Missense_Mutation SNP C C T TCGA-AB-2952-03A-01W-0733-08 TCGA-AB-2952-11A-01W-0732-08 C C C T C C Verified Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq 1 dbGAP Illumina HiSeq b522ecb6-9d9a-4fbf-806e-5a20aeed9d06 0f4c32e9-65f3-464b-aa29-65e10407a75e 1 117464866 117464866 C T SNP TRIM45 NM_025188.1 human genbank 54_36p -1 reviewed missense c.481 p.A161T 1.000 HMMPfam_zf-B_box,HMMSmart_SM00336 HMMPfam_zf-B_box,HMMSmart_SM00336,HMMSmart_SM00557,HMMSmart_SM00184,HMMSmart_SM00502,superfamily_E set domains,HMMPfam_Filamin,PatternScan_ZF_RING_1,HMMPfam_zf-C3HC4,superfamily_RING/U-box - no_errors 195 16 7.58 232 182 43.44 7 4 36.36 +ADCY10 0 genome.wustl.edu 37 1 167873180 167873180 + Missense_Mutation SNP T T A TCGA-AB-2952-03A-01W-0733-08 TCGA-AB-2952-11A-01W-0732-08 T T T A T T Verified Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq 1 dbGAP Illumina HiSeq b522ecb6-9d9a-4fbf-806e-5a20aeed9d06 0f4c32e9-65f3-464b-aa29-65e10407a75e 1 166139804 166139804 T A SNP ADCY10 NM_018417.3 human genbank 54_36p -1 validated missense c.198 p.R66S 1.000 HMMPfam_Guanylate_cyc,superfamily_Adenylyl and guanylyl cyclase catalytic domain HMMPfam_Guanylate_cyc,superfamily_Adenylyl and guanylyl cyclase catalytic domain,superfamily_TPR-like - no_errors 236 16 6.35 158 109 40.07 NA NA NA +FAT1 0 genome.wustl.edu 37 4 187584737 187584737 + Missense_Mutation SNP C C G TCGA-AB-2952-03A-01W-0733-08 TCGA-AB-2952-11A-01W-0732-08 C C C G C C Verified Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq 1 dbGAP Illumina HiSeq b522ecb6-9d9a-4fbf-806e-5a20aeed9d06 0f4c32e9-65f3-464b-aa29-65e10407a75e 4 187821731 187821731 C G SNP FAT1 NM_005245.3 human genbank 54_36p -1 reviewed missense c.3296 p.R1099P 0.989 HMMPfam_Cadherin,HMMSmart_SM00112,superfamily_Concanavalin A-like lectins/glucanases,superfamily_Cadherin-like PatternScan_ASX_HYDROXYL,HMMSmart_SM00282,HMMSmart_SM00179,HMMPfam_Cadherin,HMMSmart_SM00112,PatternScan_CADHERIN_1,HMMPfam_EGF,HMMSmart_SM00181,superfamily_Concanavalin A-like lectins/glucanases,HMMPfam_Laminin_G_2,PatternScan_EGF_1,PatternScan_EGF_2,superfamily_Cadherin-like,PatternScan_EGF_CA,superfamily_EGF/Laminin - no_errors 119 8 6.30 108 70 39.11 NA NA NA +C8orf80 0 genome.wustl.edu 37 8 27922211 27922211 + Missense_Mutation SNP C C T TCGA-AB-2952-03A-01W-0733-08 TCGA-AB-2952-11A-01W-0732-08 C C C T C C Verified Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq 1 dbGAP Illumina HiSeq b522ecb6-9d9a-4fbf-806e-5a20aeed9d06 0f4c32e9-65f3-464b-aa29-65e10407a75e 8 27978130 27978130 C T SNP C8orf80 NM_001010906.1 human genbank 54_36p -1 predicted missense c.749 p.R250H 0.973 superfamily_P-loop containing nucleoside triphosphate hydrolases superfamily_P-loop containing nucleoside triphosphate hydrolases - no_errors 176 6 3.30 110 24 17.91 3 0 0.00 +GLIS3 0 genome.wustl.edu 37 9 3828379 3828379 + Missense_Mutation SNP G G A TCGA-AB-2952-03A-01W-0733-08 TCGA-AB-2952-11A-01W-0732-08 G G G A G G Verified Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq 1 dbGAP Illumina HiSeq b522ecb6-9d9a-4fbf-806e-5a20aeed9d06 0f4c32e9-65f3-464b-aa29-65e10407a75e 9 3818379 3818379 G A SNP GLIS3 NM_001042413.1 human genbank 54_36p -1 reviewed missense c.2686 p.L896F 0.997 NULL HMMPfam_zf-C2H2,PatternScan_ZINC_FINGER_C2H2_1,HMMSmart_SM00355,superfamily_C2H2 and C2HC zinc fingers - no_errors 157 9 5.42 132 86 39.27 NA NA NA +DSCAML1 0 genome.wustl.edu 37 11 117301646 117301646 + Silent SNP G G A TCGA-AB-2952-03A-01W-0733-08 TCGA-AB-2952-11A-01W-0732-08 G G G A G G Verified Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq 1 dbGAP Illumina HiSeq b522ecb6-9d9a-4fbf-806e-5a20aeed9d06 0f4c32e9-65f3-464b-aa29-65e10407a75e 11 116806856 116806856 G A SNP DSCAML1 NM_020693.2 human genbank 54_36p -1 provisional silent c.5658 p.H1886 1.000 NULL HMMSmart_SM00406,HMMSmart_SM00408,HMMSmart_SM00409,HMMPfam_fn3,HMMSmart_SM00060,superfamily_Fibronectin type III,HMMPfam_I-set,HMMPfam_ig,superfamily_Immunoglobulin - no_errors 453 59 11.52 56 52 47.71 1 0 0.00 +GRIK4 0 genome.wustl.edu 37 11 120702587 120702587 + Missense_Mutation SNP C C T TCGA-AB-2952-03A-01W-0733-08 TCGA-AB-2952-11A-01W-0732-08 C C C T C C Verified Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq 1 dbGAP Illumina HiSeq b522ecb6-9d9a-4fbf-806e-5a20aeed9d06 0f4c32e9-65f3-464b-aa29-65e10407a75e 11 120207797 120207797 C T SNP GRIK4 NM_014619.2 human genbank 54_36p +1 reviewed missense c.538 p.R180W 1.000 HMMPfam_ANF_receptor,superfamily_SSF53822 HMMPfam_Lig_chan,HMMSmart_PBPe,HMMPfam_ANF_receptor,HMMPfam_Lig_chan-Glu_bd,superfamily_SSF53822,superfamily_SSF53850 - no_errors 64 1 1.54 63 13 16.88 NA NA NA +MDM2 0 genome.wustl.edu 37 12 69230517 69230517 + Missense_Mutation SNP A A C TCGA-AB-2952-03A-01W-0733-08 TCGA-AB-2952-11A-01W-0732-08 A A A C A A Verified Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq 1 dbGAP Illumina HiSeq b522ecb6-9d9a-4fbf-806e-5a20aeed9d06 0f4c32e9-65f3-464b-aa29-65e10407a75e 12 67516784 67516784 A C SNP MDM2 NM_002392.1 human genbank 54_36p +1 reviewed missense c.906 p.E302D 1.000 NULL HMMPfam_zf-RanBP,PatternScan_ZF_RANBP2_1,HMMPfam_SWIB,superfamily_SWIB/MDM2 domain,superfamily_RING/U-box - no_errors 153 1 0.65 236 60 20.20 25 0 0.00 +C15orf60 0 genome.wustl.edu 37 15 73735530 73735530 + Missense_Mutation SNP G G A TCGA-AB-2952-03A-01W-0733-08 TCGA-AB-2952-11A-01W-0732-08 G G G A G G Verified Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq 1 dbGAP Illumina HiSeq b522ecb6-9d9a-4fbf-806e-5a20aeed9d06 0f4c32e9-65f3-464b-aa29-65e10407a75e 15 71522583 71522583 G A SNP C15orf60 NM_001042367.1 human genbank 54_36p +1 predicted missense c.4 p.A2T 0.997 NULL NULL - no_errors 84 5 5.62 63 51 44.74 NA NA NA +TP53 0 genome.wustl.edu 37 17 7577081 7577081 + Missense_Mutation SNP T T C TCGA-AB-2952-03A-01W-0733-08 TCGA-AB-2952-11A-01W-0732-08 T T T C T T Verified Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq 1 dbGAP Illumina HiSeq b522ecb6-9d9a-4fbf-806e-5a20aeed9d06 0f4c32e9-65f3-464b-aa29-65e10407a75e 17 7517806 7517806 T C SNP TP53 NM_000546.4 human genbank 54_36p -1 reviewed missense c.857 p.E286G 1.000 superfamily_p53-like transcription factors,HMMPfam_P53 PatternScan_P53,superfamily_p53-like transcription factors,HMMPfam_P53_tetramer,superfamily_p53 tetramerization domain,HMMPfam_P53,HMMPfam_P53_TAD - no_errors 276 28 9.21 38 175 81.78 24 228 90.12 +PRX 0 genome.wustl.edu 37 19 40902998 40902998 + Missense_Mutation SNP T T C TCGA-AB-2952-03A-01W-0733-08 TCGA-AB-2952-11A-01W-0732-08 T T T C T T Verified Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq 1 dbGAP Illumina HiSeq b522ecb6-9d9a-4fbf-806e-5a20aeed9d06 0f4c32e9-65f3-464b-aa29-65e10407a75e 19 45594838 45594838 T C SNP PRX NM_181882.2 human genbank 54_36p -1 reviewed missense c.1261 p.K421E 0.996 NULL HMMPfam_PDZ,HMMSmart_SM00228,superfamily_PDZ domain-like - no_errors 74 8 9.64 63 50 43.86 3 3 50.00 +EFCAB6 0 genome.wustl.edu 37 22 43985964 43985964 + Missense_Mutation SNP G G T TCGA-AB-2952-03A-01W-0733-08 TCGA-AB-2952-11A-01W-0732-08 G G G T G G Verified Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq 1 dbGAP Illumina HiSeq b522ecb6-9d9a-4fbf-806e-5a20aeed9d06 0f4c32e9-65f3-464b-aa29-65e10407a75e 22 42317297 42317297 G T SNP EFCAB6 NM_022785.2 human genbank 54_36p -1 validated missense c.3022 p.L1008M 0.478 superfamily_EF-hand HMMSmart_SM00054,HMMPfam_DUF1880,PatternScan_EF_HAND_1,superfamily_EF-hand - no_errors 227 3 1.30 240 70 22.36 NA NA NA +ENSG00000200463 0 genome.wustl.edu 37 17 8076869 8076870 + RNA INS - - GGA TCGA-AB-2952-03A-01W-0733-08 TCGA-AB-2952-11A-01W-0732-08 - - - GGA - - Verified Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq 1 dbGAP Illumina HiSeq b522ecb6-9d9a-4fbf-806e-5a20aeed9d06 0f4c32e9-65f3-464b-aa29-65e10407a75e 17 8017594 8017595 - GGA INS ENSG00000200463 ENST00000363593 human ensembl 54_36p -1 novel rna NULL NULL 0.688:0.440 - - - no_errors 220 4 1.79 105 21 16.67 19 0 0.00 +CEBPA 0 genome.wustl.edu 37 19 33792895 33792896 + Frame_Shift_Del DEL CC CC - TCGA-AB-2952-03A-01W-0733-08 TCGA-AB-2952-11A-01W-0732-08 CC CC CC - CC CC Verified Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq 1 dbGAP Illumina HiSeq b522ecb6-9d9a-4fbf-806e-5a20aeed9d06 0f4c32e9-65f3-464b-aa29-65e10407a75e 19 38484735 38484736 CC - DEL CEBPA NM_004364.3 human genbank 54_36p -1 reviewed frame_shift_del c.426_425 p.R142fs 0.999:1.000 NULL HMMSmart_BRLZ,PatternScan_BZIP_BASIC,HMMPfam_bZIP_2 - no_errors 0 0 0.00 0 0 0.00 0 114 51.35 +MUC6 0 genome.wustl.edu 37 11 1028705 1028705 + Missense_Mutation SNP A A G TCGA-AB-2954-03A-01W-0733-08 TCGA-AB-2954-11A-01W-0732-08 A A A G A A Verified Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq 1 dbGAP Illumina HiSeq 0126ea53-18a0-4685-b765-8ebe24f757c5 ce28727d-d1be-4b81-a804-9fe81621842d 11 1018705 1018705 A G SNP MUC6 NM_005961.2 human genbank 54_36p -1 validated missense c.1532 p.L511P 0.902 HMMPfam_VWD,HMMSmart_SM00216 HMMPfam_VWD,HMMSmart_SM00216,superfamily_Serine proterase inhibitors,HMMSmart_SM00041,HMMSmart_SM00215,HMMPfam_C8,HMMPfam_TIL - no_errors 8 0 0.00 1 4 80.00 NA NA NA +FAM47A 0 genome.wustl.edu 37 X 34150174 34150174 + Silent SNP G G A TCGA-AB-2955-03A-01W-0733-08 TCGA-AB-2955-11A-01W-0732-08 G G G A G G Verified Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq 1 dbGAP Illumina HiSeq 4e3241c5-adeb-4a0e-8e27-147ee63f32fd c11cf123-f8e8-4777-b45f-d3498d8d38fa X 34060095 34060095 G A SNP FAM47A NM_203408.2 human genbank 54_36p -1 predicted silent c.222 p.D74 0.004 NULL NULL - no_errors 146 17 10.43 40 35 46.05 NA NA NA +KLHL4 0 genome.wustl.edu 37 X 86773292 86773292 + Silent SNP T T C TCGA-AB-2955-03A-01W-0733-08 TCGA-AB-2955-11A-01W-0732-08 T T T C T T Verified Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq 1 dbGAP Illumina HiSeq 4e3241c5-adeb-4a0e-8e27-147ee63f32fd c11cf123-f8e8-4777-b45f-d3498d8d38fa X 86659948 86659948 T C SNP KLHL4 NM_057162.4 human genbank 54_36p +1 reviewed silent c.396 p.D132 0.948 NULL HMMSmart_SM00225,HMMPfam_Kelch_1,HMMSmart_SM00612,superfamily_Galactose oxidase central domain,superfamily_POZ domain,HMMPfam_BACK,HMMPfam_BTB - no_errors 112 9 7.44 18 25 58.14 NA NA NA +TAS1R1 0 genome.wustl.edu 37 1 6636675 6636675 + Silent SNP A A G TCGA-AB-2955-03A-01W-0733-08 TCGA-AB-2955-11A-01W-0732-08 A A A G A A Verified Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq 1 dbGAP Illumina HiSeq 4e3241c5-adeb-4a0e-8e27-147ee63f32fd c11cf123-f8e8-4777-b45f-d3498d8d38fa 1 6559262 6559262 A G SNP TAS1R1 NM_138697.2 human genbank 54_36p +1 reviewed silent c.1461 p.G487 0.016 superfamily_Periplasmic binding protein-like I HMMPfam_ANF_receptor,HMMPfam_NCD3G,HMMPfam_7tm_3,PatternScan_G_PROTEIN_RECEP_F3_2,PatternScan_G_PROTEIN_RECEP_F3_3,superfamily_Periplasmic binding protein-like I - no_errors 175 9 4.89 31 25 43.86 NA NA NA +CHRNB2 0 genome.wustl.edu 37 1 154543959 154543959 + Silent SNP G G A TCGA-AB-2955-03A-01W-0733-08 TCGA-AB-2955-11A-01W-0732-08 G G G A G G Verified Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq 1 dbGAP Illumina HiSeq 4e3241c5-adeb-4a0e-8e27-147ee63f32fd c11cf123-f8e8-4777-b45f-d3498d8d38fa 1 152810583 152810583 G A SNP CHRNB2 NM_000748.2 human genbank 54_36p +1 reviewed silent c.660 p.T220 0.999 HMMPfam_Neur_chan_LBD,superfamily_Nicotinic receptor ligand binding domain-like HMMPfam_Neur_chan_memb,superfamily_Neurotransmitter-gated ion-channel transmembrane pore,HMMPfam_Neur_chan_LBD,superfamily_Nicotinic receptor ligand binding domain-like,PatternScan_NEUROTR_ION_CHANNEL - no_errors 255 24 8.57 17 17 48.57 NA NA NA +NBAS 0 genome.wustl.edu 37 2 15415893 15415893 + Silent SNP T T C TCGA-AB-2955-03A-01W-0733-08 TCGA-AB-2955-11A-01W-0732-08 T T T C T T Verified Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq 1 dbGAP Illumina HiSeq 4e3241c5-adeb-4a0e-8e27-147ee63f32fd c11cf123-f8e8-4777-b45f-d3498d8d38fa 2 15333344 15333344 T C SNP NBAS NM_015909.2 human genbank 54_36p -1 validated silent c.5439 p.A1813 0.222 NULL superfamily_WD40 repeat-like,HMMPfam_Sec39,PatternScan_RIBOSOMAL_S14 - no_errors 242 17 6.56 67 44 39.29 28 17 37.78 +DNMT3A 0 genome.wustl.edu 37 2 25457242 25457242 + Missense_Mutation SNP C C T TCGA-AB-2955-03A-01W-0733-08 TCGA-AB-2955-11A-01W-0732-08 C C C T C C Verified Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq 1 dbGAP Illumina HiSeq 4e3241c5-adeb-4a0e-8e27-147ee63f32fd c11cf123-f8e8-4777-b45f-d3498d8d38fa 2 25310746 25310746 C T SNP DNMT3A NM_022552.3 human genbank 54_36p -1 reviewed missense c.2645 p.R882H 1.000 superfamily_S-adenosyl-L-methionine-dependent methyltransferases HMMPfam_PWWP,HMMSmart_SM00293,HMMPfam_DNA_methylase,superfamily_FYVE/PHD zinc finger,PatternScan_C5_MTASE_1,superfamily_S-adenosyl-L-methionine-dependent methyltransferases,superfamily_Tudor/PWWP/MBT - no_errors 233 21 8.24 50 34 40.00 34 40 53.33 +COL7A1 0 genome.wustl.edu 37 3 48608698 48608698 + Missense_Mutation SNP G G A TCGA-AB-2955-03A-01W-0733-08 TCGA-AB-2955-11A-01W-0732-08 G G G A G G Verified Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq 1 dbGAP Illumina HiSeq 4e3241c5-adeb-4a0e-8e27-147ee63f32fd c11cf123-f8e8-4777-b45f-d3498d8d38fa 3 48583702 48583702 G A SNP COL7A1 NM_000094.3 human genbank 54_36p -1 reviewed missense c.7082 p.A2361V 1.000 HMMPfam_Collagen HMMPfam_VWA,HMMSmart_SM00327,HMMPfam_Kunitz_BPTI,PatternScan_BPTI_KUNITZ_1,superfamily_BPTI-like,HMMPfam_fn3,HMMSmart_SM00060,HMMPfam_Collagen,superfamily_Fibronectin type III,superfamily_vWA-like - no_errors 276 19 6.44 46 28 37.84 NA NA NA +GATA2 0 genome.wustl.edu 37 3 128202809 128202809 + Missense_Mutation SNP G G T TCGA-AB-2955-03A-01W-0733-08 TCGA-AB-2955-11A-01W-0732-08 G G G T G G Verified Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq 1 dbGAP Illumina HiSeq 4e3241c5-adeb-4a0e-8e27-147ee63f32fd c11cf123-f8e8-4777-b45f-d3498d8d38fa 3 129685499 129685499 G T SNP GATA2 NM_032638.1 human genbank 54_36p -1 reviewed missense c.911 p.P304H 1.000 HMMPfam_GATA,HMMSmart_ZnF_GATA,PatternScan_GATA_ZN_FINGER_1,superfamily_SSF57716 HMMPfam_GATA,HMMSmart_ZnF_GATA,PatternScan_GATA_ZN_FINGER_1,superfamily_SSF57716 - no_errors 82 3 3.53 12 7 36.84 6 12 66.67 +RPS3A 0 genome.wustl.edu 37 4 152024038 152024038 + Missense_Mutation SNP C C T TCGA-AB-2955-03A-01W-0733-08 TCGA-AB-2955-11A-01W-0732-08 C C C T C C Verified Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq 1 dbGAP Illumina HiSeq 4e3241c5-adeb-4a0e-8e27-147ee63f32fd c11cf123-f8e8-4777-b45f-d3498d8d38fa 4 152243488 152243488 C T SNP RPS3A NM_001006.3 human genbank 54_36p +1 reviewed missense c.370 p.H124Y 1.000 HMMPfam_Ribosomal_S3Ae HMMPfam_Ribosomal_S3Ae,PatternScan_RIBOSOMAL_S3AE - no_errors 405 32 7.32 83 60 41.96 173 174 50.00 +PCDHA1 0 genome.wustl.edu 37 5 140167574 140167574 + Missense_Mutation SNP G G A TCGA-AB-2955-03A-01W-0733-08 TCGA-AB-2955-11A-01W-0732-08 G G G A G G Verified Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq 1 dbGAP Illumina HiSeq 4e3241c5-adeb-4a0e-8e27-147ee63f32fd c11cf123-f8e8-4777-b45f-d3498d8d38fa 5 140147758 140147758 G A SNP PCDHA1 NM_018900.2 human genbank 54_36p +1 reviewed missense c.1699 p.A567T 0.018 superfamily_Cadherin-like HMMPfam_Cadherin,HMMSmart_SM00112,PatternScan_CADHERIN_1,HMMPfam_Cadherin_2,superfamily_Cadherin-like - no_errors 128 13 9.22 16 10 37.04 NA NA NA +PCDHB18 0 genome.wustl.edu 37 5 140615588 140615588 + Missense_Mutation SNP T T C TCGA-AB-2955-03A-01W-0733-08 TCGA-AB-2955-11A-01W-0732-08 T T T C T T Verified Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq 1 dbGAP Illumina HiSeq 4e3241c5-adeb-4a0e-8e27-147ee63f32fd c11cf123-f8e8-4777-b45f-d3498d8d38fa 5 140595772 140595772 T C SNP PCDHB18 ENST00000274705 human ensembl 54_36p +1 known missense c.1303 p.Y435H 0.998 HMMPfam_Cadherin,HMMSmart_CA,superfamily_Cadherin HMMPfam_Cadherin,HMMSmart_CA,PatternScan_CADHERIN_1,HMMPfam_Cadherin_2,superfamily_Cadherin - no_errors 83 6 6.74 9 7 43.75 NA NA NA +PRPF4B 0 genome.wustl.edu 37 6 4057322 4057322 + Silent SNP C C G TCGA-AB-2955-03A-01W-0733-08 TCGA-AB-2955-11A-01W-0732-08 C C C G C C Verified Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq 1 dbGAP Illumina HiSeq 4e3241c5-adeb-4a0e-8e27-147ee63f32fd c11cf123-f8e8-4777-b45f-d3498d8d38fa 6 4002321 4002321 C G SNP PRPF4B NM_003913.4 human genbank 54_36p +1 reviewed silent c.2634 p.T878 0.859 HMMSmart_SM00219,HMMSmart_SM00220,superfamily_Protein kinase-like (PK-like),HMMPfam_Pkinase HMMSmart_SM00219,HMMSmart_SM00220,PatternScan_PROTEIN_KINASE_ST,superfamily_Protein kinase-like (PK-like),HMMPfam_Pkinase - no_errors 164 15 8.38 42 35 45.45 38 45 53.57 +LOC100129218 0 genome.wustl.edu 37 12 52885485 52885485 + Missense_Mutation SNP T T C TCGA-AB-2955-03A-01W-0733-08 TCGA-AB-2955-11A-01W-0732-08 T T T C T T Verified Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq 1 dbGAP Illumina HiSeq 4e3241c5-adeb-4a0e-8e27-147ee63f32fd c11cf123-f8e8-4777-b45f-d3498d8d38fa 12 51171752 51171752 T C SNP LOC100129218 XM_001718439.1 human genbank 54_36p +1 model missense c.997 p.F333L 1.000 NULL NULL - no_errors 217 19 8.05 21 26 55.32 NA NA NA +MYH6 0 genome.wustl.edu 37 14 23874854 23874854 + Nonsense_Mutation SNP G G C TCGA-AB-2955-03A-01W-0733-08 TCGA-AB-2955-11A-01W-0732-08 G G G C G G Verified Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq 1 dbGAP Illumina HiSeq 4e3241c5-adeb-4a0e-8e27-147ee63f32fd c11cf123-f8e8-4777-b45f-d3498d8d38fa 14 22944694 22944694 G C SNP MYH6 NM_002471.2 human genbank 54_36p -1 validated nonsense c.327 p.Y109* 1.000 HMMPfam_Myosin_head,HMMSmart_SM00242,superfamily_P-loop containing nucleoside triphosphate hydrolases HMMPfam_Myosin_head,HMMSmart_SM00242,HMMPfam_Myosin_tail_1,HMMPfam_Myosin_N,superfamily_Prefoldin,superfamily_P-loop containing nucleoside triphosphate hydrolases - no_errors 668 52 7.21 71 67 48.20 NA NA NA +ENSG00000103832 0 genome.wustl.edu 37 15 31093092 31093092 + Missense_Mutation SNP G G T TCGA-AB-2955-03A-01W-0733-08 TCGA-AB-2955-11A-01W-0732-08 G G G T G G Verified Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq 1 dbGAP Illumina HiSeq 4e3241c5-adeb-4a0e-8e27-147ee63f32fd c11cf123-f8e8-4777-b45f-d3498d8d38fa 15 28880384 28880384 G T SNP ENSG00000103832 ENST00000220188 human ensembl 54_36p +1 known missense c.790 p.A264S 0.951 NULL NULL - no_stop_codon 368 27 6.84 33 33 50.00 2 0 0.00 +PLA2G4D 0 genome.wustl.edu 37 15 42373282 42373282 + Missense_Mutation SNP G G A TCGA-AB-2955-03A-01W-0733-08 TCGA-AB-2955-11A-01W-0732-08 G G G A G G Verified Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq 1 dbGAP Illumina HiSeq 4e3241c5-adeb-4a0e-8e27-147ee63f32fd c11cf123-f8e8-4777-b45f-d3498d8d38fa 15 40160574 40160574 G A SNP PLA2G4D NM_178034.3 human genbank 54_36p -1 validated missense c.1007 p.T336I 0.864 HMMPfam_PLA2_B,HMMSmart_SM00022,superfamily_FabD/lysophospholipase-like HMMPfam_C2,HMMSmart_SM00239,HMMPfam_PLA2_B,HMMSmart_SM00022,superfamily_C2 domain (Calcium/lipid-binding domain CaLB),superfamily_FabD/lysophospholipase-like - no_errors 170 7 3.95 21 17 44.74 NA NA NA +CCL16 0 genome.wustl.edu 37 17 34308404 34308404 + Missense_Mutation SNP G G A TCGA-AB-2955-03A-01W-0733-08 TCGA-AB-2955-11A-01W-0732-08 G G G A G G Verified Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq 1 dbGAP Illumina HiSeq 4e3241c5-adeb-4a0e-8e27-147ee63f32fd c11cf123-f8e8-4777-b45f-d3498d8d38fa 17 31332517 31332517 G A SNP CCL16 NM_004590.2 human genbank 54_36p -1 reviewed missense c.53 p.T18I 0.001 NULL PatternScan_SMALL_CYTOKINES_CC,HMMPfam_IL8,HMMSmart_SCY,superfamily_Chemokine_IL8 - no_errors 931 89 8.72 95 95 49.48 NA NA NA +DNAJC7 0 genome.wustl.edu 37 17 40133887 40133887 + Missense_Mutation SNP C C T TCGA-AB-2955-03A-01W-0733-08 TCGA-AB-2955-11A-01W-0732-08 C C C T C C Verified Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq 1 dbGAP Illumina HiSeq 4e3241c5-adeb-4a0e-8e27-147ee63f32fd c11cf123-f8e8-4777-b45f-d3498d8d38fa 17 37387413 37387413 C T SNP DNAJC7 NM_003315.1 human genbank 54_36p -1 provisional missense c.1340 p.G447D 1.000 superfamily_Chaperone J-domain HMMPfam_TPR_1,HMMPfam_DnaJ,HMMSmart_SM00271,superfamily_Chaperone J-domain,HMMSmart_SM00028,superfamily_TPR-like - no_errors 340 16 4.48 50 29 36.25 41 23 35.94 +ZNF254 0 genome.wustl.edu 37 19 24288856 24288856 + Missense_Mutation SNP C C G TCGA-AB-2955-03A-01W-0733-08 TCGA-AB-2955-11A-01W-0732-08 C C C G C C Verified Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq 1 dbGAP Illumina HiSeq 4e3241c5-adeb-4a0e-8e27-147ee63f32fd c11cf123-f8e8-4777-b45f-d3498d8d38fa 19 24080696 24080696 C G SNP ZNF254 NM_203282.2 human genbank 54_36p +1 validated missense c.145 p.L49V 0.994 HMMPfam_KRAB,HMMSmart_SM00349,superfamily_KRAB domain (Kruppel-associated box Pfam 01352) HMMPfam_KRAB,HMMSmart_SM00349,superfamily_KRAB domain (Kruppel-associated box Pfam 01352),HMMPfam_zf-C2H2,PatternScan_ZINC_FINGER_C2H2_1,HMMSmart_SM00355,superfamily_C2H2 and C2HC zinc fingers - no_errors 108 4 3.57 30 18 37.50 10 6 35.29 +CEBPA 0 genome.wustl.edu 37 19 33792404 33792405 + In_Frame_Ins INS - - GCT TCGA-AB-2955-03A-01W-0733-08 TCGA-AB-2955-11A-01W-0732-08 - - - GCT - - Verified Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq 1 dbGAP Illumina HiSeq 4e3241c5-adeb-4a0e-8e27-147ee63f32fd c11cf123-f8e8-4777-b45f-d3498d8d38fa 19 38484244 38484245 - GCT INS CEBPA NM_004364.3 human genbank 54_36p -1 reviewed in_frame_ins c.917_916 p.306in_frame_insQ 1.000:1.000 HMMSmart_BRLZ,HMMPfam_bZIP_2 HMMSmart_BRLZ,PatternScan_BZIP_BASIC,HMMPfam_bZIP_2 - no_errors 31 3 8.82 3 3 50.00 58 24 29.27 +CEBPA 0 genome.wustl.edu 37 19 33793184 33793184 + Frame_Shift_Del DEL G G - TCGA-AB-2955-03A-01W-0733-08 TCGA-AB-2955-11A-01W-0732-08 G G G - G G Verified Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq 1 dbGAP Illumina HiSeq 4e3241c5-adeb-4a0e-8e27-147ee63f32fd c11cf123-f8e8-4777-b45f-d3498d8d38fa 19 38485024 38485024 G - DEL CEBPA NM_004364.3 human genbank 54_36p -1 reviewed frame_shift_del c.137 p.P46fs 1.000 NULL HMMSmart_BRLZ,PatternScan_BZIP_BASIC,HMMPfam_bZIP_2 - no_errors 0 0 0.00 0 0 0.00 14 9 37.50 +GABRA4 0 genome.wustl.edu 37 4 46973214 46973214 + Missense_Mutation SNP G G A TCGA-AB-2956-03A-01W-0733-08 TCGA-AB-2956-11A-01W-0732-08 G G G A G G Verified Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq 1 dbGAP Illumina HiSeq 601ce5dd-0025-45db-88ad-acb73e20cd1e a860d16c-65e8-4ac4-8eeb-e6856544786c 4 46667971 46667971 G A SNP GABRA4 NM_000809.2 human genbank 54_36p -1 reviewed missense c.760 p.R254W 1.000 HMMPfam_Neur_chan_LBD,superfamily_Neur_chan_LBD HMMPfam_Neur_chan_memb,superfamily_Neu_channel_TM,HMMPfam_Neur_chan_LBD,superfamily_Neur_chan_LBD,PatternScan_NEUROTR_ION_CHANNEL - no_errors 84 5 5.62 50 15 23.08 NA NA NA +SNCAIP 0 genome.wustl.edu 37 5 121786808 121786808 + Missense_Mutation SNP G G A TCGA-AB-2956-03A-01W-0733-08 TCGA-AB-2956-11A-01W-0732-08 G G G A G G Verified Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq 1 dbGAP Illumina HiSeq 601ce5dd-0025-45db-88ad-acb73e20cd1e a860d16c-65e8-4ac4-8eeb-e6856544786c 5 121814707 121814707 G A SNP SNCAIP NM_005460.2 human genbank 54_36p +1 reviewed missense c.2266 p.E756K 1.000 NULL HMMPfam_Ank,HMMSmart_ANK,superfamily_ANK - no_errors 45 2 4.26 24 23 48.94 NA NA NA +MINPP1 0 genome.wustl.edu 37 10 89268199 89268199 + Silent SNP C C T TCGA-AB-2956-03A-01W-0733-08 TCGA-AB-2956-11A-01W-0732-08 C C C T C C Verified Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq 1 dbGAP Illumina HiSeq 601ce5dd-0025-45db-88ad-acb73e20cd1e a860d16c-65e8-4ac4-8eeb-e6856544786c 10 89258179 89258179 C T SNP MINPP1 NM_004897.3 human genbank 54_36p +1 validated silent c.744 p.H248 0.978 HMMPfam_Acid_phosphat_A,superfamily_Phosphoglycerate mutase-like HMMPfam_Acid_phosphat_A,PatternScan_ER_TARGET,superfamily_Phosphoglycerate mutase-like - no_errors 70 5 6.67 27 6 18.18 9 12 57.14 +B4GALNT3 0 genome.wustl.edu 37 12 662474 662474 + Missense_Mutation SNP C C T TCGA-AB-2956-03A-01W-0733-08 TCGA-AB-2956-11A-01W-0732-08 C C C T C C Verified Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq 1 dbGAP Illumina HiSeq 601ce5dd-0025-45db-88ad-acb73e20cd1e a860d16c-65e8-4ac4-8eeb-e6856544786c 12 532735 532735 C T SNP B4GALNT3 NM_173593.3 human genbank 54_36p +1 validated missense c.1385 p.T462I 0.003 NULL HMMPfam_PA14,HMMSmart_SM00758,superfamily_Nucleotide-diphospho-sugar transferases - no_errors 33 2 5.71 4 6 60.00 3 0 0.00 +FAM194A 0 genome.wustl.edu 37 3 150384671 150384671 + Missense_Mutation SNP C C T TCGA-AB-2957-03A-01W-0733-08 TCGA-AB-2957-11A-01W-0732-08 C C C T C C Verified Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq 1 dbGAP Illumina HiSeq 916a9b37-ed97-4a68-b9ce-4d9e2c419ccd 945dd1e2-500a-420f-8f6b-d46ce2ec67d3 3 151867361 151867361 C T SNP C3orf44 NM_152394.3 human genbank 54_36p -1 validated missense c.1631 p.R544H 0.548 NULL NULL - no_errors 51 3 5.36 64 46 41.82 NA NA NA +uc001msu.1 0 genome.wustl.edu 37 11 31086626 31086626 + Silent SNP G G A TCGA-AB-2957-03A-01W-0733-08 TCGA-AB-2957-11A-01W-0732-08 G G G A G G Verified Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq 1 dbGAP Illumina HiSeq 916a9b37-ed97-4a68-b9ce-4d9e2c419ccd 945dd1e2-500a-420f-8f6b-d46ce2ec67d3 11 31043202 31043202 G A SNP uc001msu.1 ENST00000342355 human ensembl 54_36p -1 known silent c.1230 p.H410 0.454 superfamily_RicinB_like superfamily_RicinB_like - no_errors 44 2 4.26 28 23 45.10 NA NA NA +FLT3 0 genome.wustl.edu 37 13 28592642 28592642 + Missense_Mutation SNP C C A rs121913488 TCGA-AB-2957-03A-01W-0733-08 TCGA-AB-2957-11A-01W-0732-08 C C C A C C Verified Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq 1 dbGAP Illumina HiSeq 916a9b37-ed97-4a68-b9ce-4d9e2c419ccd 945dd1e2-500a-420f-8f6b-d46ce2ec67d3 13 27490642 27490642 C A SNP FLT3 NM_004119.2 human genbank 54_36p -1 reviewed missense c.2503 p.D835Y 1.000 HMMPfam_Pkinase_Tyr,HMMSmart_TyrKc,superfamily_Kinase_like HMMPfam_Pkinase_Tyr,HMMSmart_TyrKc,PatternScan_RECEPTOR_TYR_KIN_III,PatternScan_PROTEIN_KINASE_TYR,superfamily_Kinase_like,HMMPfam_ig,PatternScan_PROTEIN_KINASE_ATP,superfamily_SSF48726 - no_errors 75 14 15.73 29 24 45.28 NA NA NA +ZBTB33 0 genome.wustl.edu 37 X 119387500 119387500 + Missense_Mutation SNP T T A TCGA-AB-2959-03A-01W-0733-08 TCGA-AB-2959-11A-01W-0732-08 T T T A T T Verified Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq 1 dbGAP Illumina HiSeq 8c783e8d-d1d7-41cc-9b4d-e651f11d8fea 5f663626-659e-41d2-a1f5-934bb2c3ad8e X 119271528 119271528 T A SNP ZBTB33 NM_006777.3 human genbank 54_36p +1 validated missense c.230 p.I77N 1.000 HMMSmart_SM00225,superfamily_POZ domain,HMMPfam_BTB HMMSmart_SM00225,HMMPfam_zf-C2H2,PatternScan_ZINC_FINGER_C2H2_1,superfamily_POZ domain,HMMPfam_BTB,HMMSmart_SM00355,superfamily_C2H2 and C2HC zinc fingers - no_errors 83 3 3.45 6 27 81.82 6 28 82.35 +PHF6 0 genome.wustl.edu 37 X 133547852 133547852 + Splice_Site SNP G G T TCGA-AB-2959-03A-01W-0733-08 TCGA-AB-2959-11A-01W-0732-08 G G G T G G Verified Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq 1 dbGAP Illumina HiSeq 8c783e8d-d1d7-41cc-9b4d-e651f11d8fea 5f663626-659e-41d2-a1f5-934bb2c3ad8e X 133375518 133375518 G T SNP PHF6 NM_001015877.1 human genbank 54_36p +1 reviewed splice_site c.586-1 e6-1 1.000 - - - no_errors 64 0 0.00 12 22 64.71 0 0 0.00 +MYOM3 0 genome.wustl.edu 37 1 24432514 24432514 + Silent SNP G G A TCGA-AB-2959-03A-01W-0733-08 TCGA-AB-2959-11A-01W-0732-08 G G G A G G Verified Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq 1 dbGAP Illumina HiSeq 8c783e8d-d1d7-41cc-9b4d-e651f11d8fea 5f663626-659e-41d2-a1f5-934bb2c3ad8e 1 24305101 24305101 G A SNP MYOM3 NM_152372.3 human genbank 54_36p -1 validated silent c.456 p.R152 0.929 superfamily_Immunoglobulin HMMSmart_SM00408,HMMSmart_SM00409,HMMPfam_fn3,HMMSmart_SM00060,superfamily_Fibronectin type III,HMMPfam_I-set,HMMPfam_ig,PatternScan_EF_HAND_1,superfamily_Immunoglobulin - no_errors 46 0 0.00 22 10 31.25 NA NA NA +CCDC24 0 genome.wustl.edu 37 1 44461319 44461319 + Missense_Mutation SNP C C A TCGA-AB-2959-03A-01W-0733-08 TCGA-AB-2959-11A-01W-0732-08 C C C A C C Verified Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq 1 dbGAP Illumina HiSeq 8c783e8d-d1d7-41cc-9b4d-e651f11d8fea 5f663626-659e-41d2-a1f5-934bb2c3ad8e 1 44233906 44233906 C A SNP CCDC24 NM_152499.1 human genbank 54_36p +1 provisional missense c.599 p.A200E 0.002 NULL NULL - no_errors 43 0 0.00 16 8 33.33 0 1 100.00 +CRB1 0 genome.wustl.edu 37 1 197390405 197390405 + Missense_Mutation SNP G G A TCGA-AB-2959-03A-01W-0733-08 TCGA-AB-2959-11A-01W-0732-08 G G G A G G Verified Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq 1 dbGAP Illumina HiSeq 8c783e8d-d1d7-41cc-9b4d-e651f11d8fea 5f663626-659e-41d2-a1f5-934bb2c3ad8e 1 195657028 195657028 G A SNP CRB1 NM_201253.1 human genbank 54_36p +1 reviewed missense c.1447 p.A483T 0.005 superfamily_Concanavalin A-like lectins/glucanases PatternScan_ASX_HYDROXYL,HMMSmart_SM00282,HMMSmart_SM00179,HMMPfam_EGF,HMMSmart_SM00181,superfamily_Concanavalin A-like lectins/glucanases,HMMPfam_Laminin_G_2,PatternScan_EGF_1,PatternScan_EGF_2,PatternScan_EGF_CA,PatternScan_C_TYPE_LECTIN_1,superfamily_EGF/Laminin - no_errors 182 2 1.08 48 17 26.15 NA NA NA +TPO 0 genome.wustl.edu 37 2 1457469 1457469 + Missense_Mutation SNP C C A TCGA-AB-2959-03A-01W-0733-08 TCGA-AB-2959-11A-01W-0732-08 C C C A C C Verified Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq 1 dbGAP Illumina HiSeq 8c783e8d-d1d7-41cc-9b4d-e651f11d8fea 5f663626-659e-41d2-a1f5-934bb2c3ad8e 2 1436476 1436476 C A SNP TPO NM_000547.4 human genbank 54_36p +1 reviewed missense c.486 p.D162E 0.965 HMMPfam_An_peroxidase,superfamily_Heme-dependent peroxidases PatternScan_ASX_HYDROXYL,HMMPfam_Sushi,HMMSmart_SM00032,HMMSmart_SM00179,HMMPfam_An_peroxidase,HMMSmart_SM00181,superfamily_Heme-dependent peroxidases,PatternScan_EGF_2,HMMPfam_EGF_CA,superfamily_Complement control module/SCR domain,PatternScan_EGF_CA,PatternScan_PEROXIDASE_1,superfamily_EGF/Laminin - no_errors 28 0 0.00 10 8 44.44 NA NA NA +APOB 0 genome.wustl.edu 37 2 21235398 21235398 + Missense_Mutation SNP C C T TCGA-AB-2959-03A-01W-0733-08 TCGA-AB-2959-11A-01W-0732-08 C C C T C C Verified Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq 1 dbGAP Illumina HiSeq 8c783e8d-d1d7-41cc-9b4d-e651f11d8fea 5f663626-659e-41d2-a1f5-934bb2c3ad8e 2 21088903 21088903 C T SNP APOB NM_000384.2 human genbank 54_36p -1 reviewed missense c.4342 p.V1448I 0.001 NULL HMMPfam_Vitellogenin_N,HMMSmart_SM00638,HMMPfam_DUF1081,HMMPfam_DUF1943,superfamily_Lipovitellin-phosvitin complex beta-sheet shell regions,superfamily_Lipovitellin-phosvitin complex superhelical domain - no_errors 207 3 1.42 68 49 41.88 NA NA NA +UBR3 0 genome.wustl.edu 37 2 170917884 170917884 + Silent SNP C C T TCGA-AB-2959-03A-01W-0733-08 TCGA-AB-2959-11A-01W-0732-08 C C C T C C Verified Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq 1 dbGAP Illumina HiSeq 8c783e8d-d1d7-41cc-9b4d-e651f11d8fea 5f663626-659e-41d2-a1f5-934bb2c3ad8e 2 170626130 170626130 C T SNP UBR3 NM_172070.3 human genbank 54_36p +1 validated silent c.1509 p.C503 1.000 NULL HMMPfam_zf-C3HC4,superfamily_RING/U-box - no_errors 135 2 1.45 26 10 27.78 14 14 50.00 +LOC152845 0 genome.wustl.edu 37 4 85165628 85165628 + RNA SNP G G A TCGA-AB-2959-03A-01W-0733-08 TCGA-AB-2959-11A-01W-0732-08 G G G A G G Verified Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq 1 dbGAP Illumina HiSeq 8c783e8d-d1d7-41cc-9b4d-e651f11d8fea 5f663626-659e-41d2-a1f5-934bb2c3ad8e 4 85384652 85384652 G A SNP LOC152845 XR_038721.1 human genbank 54_36p +1 model rna NULL NULL 1.000 - - - pseudogene 113 0 0.00 24 20 45.45 1 0 0.00 +RIMS1 0 genome.wustl.edu 37 6 72967959 72967959 + Missense_Mutation SNP C C T TCGA-AB-2959-03A-01W-0733-08 TCGA-AB-2959-11A-01W-0732-08 C C C T C C Verified Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq 1 dbGAP Illumina HiSeq 8c783e8d-d1d7-41cc-9b4d-e651f11d8fea 5f663626-659e-41d2-a1f5-934bb2c3ad8e 6 73024680 73024680 C T SNP RIMS1 NM_014989.3 human genbank 54_36p +1 validated missense c.2902 p.R968C 1.000 NULL HMMPfam_C2,HMMSmart_SM00239,HMMPfam_PDZ,HMMSmart_SM00228,superfamily_PDZ domain-like,superfamily_C2 domain (Calcium/lipid-binding domain CaLB),superfamily_FYVE/PHD zinc finger,PatternScan_GLYCOSYL_HYDROL_F1_1 - no_errors 93 0 0.00 20 7 25.93 NA NA NA +DOCK5 0 genome.wustl.edu 37 8 25136110 25136110 + Missense_Mutation SNP G G A TCGA-AB-2959-03A-01W-0733-08 TCGA-AB-2959-11A-01W-0732-08 G G G A G G Verified Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq 1 dbGAP Illumina HiSeq 8c783e8d-d1d7-41cc-9b4d-e651f11d8fea 5f663626-659e-41d2-a1f5-934bb2c3ad8e 8 25192027 25192027 G A SNP DOCK5 NM_024940.6 human genbank 54_36p +1 validated missense c.250 p.E84K 0.981 NULL HMMPfam_SH3_1,HMMSmart_SM00326,superfamily_SH3-domain - no_errors 90 0 0.00 33 22 40.00 8 8 50.00 +LOC100133234 0 genome.wustl.edu 37 8 56367258 56367258 + RNA SNP G G A TCGA-AB-2959-03A-01W-0733-08 TCGA-AB-2959-11A-01W-0732-08 G G G A G G Verified Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq 1 dbGAP Illumina HiSeq 8c783e8d-d1d7-41cc-9b4d-e651f11d8fea 5f663626-659e-41d2-a1f5-934bb2c3ad8e 8 56529812 56529812 G A SNP LOC100133234 XR_038021.1 human genbank 54_36p -1 model rna NULL NULL 1.000 - - - pseudogene 26 0 0.00 12 4 25.00 1 0 0.00 +SLCO5A1 0 genome.wustl.edu 37 8 70744772 70744772 + Missense_Mutation SNP C C T TCGA-AB-2959-03A-01W-0733-08 TCGA-AB-2959-11A-01W-0732-08 C C C T C C Verified Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq 1 dbGAP Illumina HiSeq 8c783e8d-d1d7-41cc-9b4d-e651f11d8fea 5f663626-659e-41d2-a1f5-934bb2c3ad8e 8 70907326 70907326 C T SNP SLCO5A1 NM_030958.1 human genbank 54_36p -1 reviewed missense c.137 p.C46Y 0.999 NULL HMMSmart_KAZAL,HMMPfam_OATP,HMMPfam_Kazal_2,superfamily_MFS_gen_substrate_transporter,superfamily_SSF100895 - no_errors 45 0 0.00 18 13 41.94 15 12 44.44 +PLCE1 0 genome.wustl.edu 37 10 95791516 95791516 + Missense_Mutation SNP T T C TCGA-AB-2959-03A-01W-0733-08 TCGA-AB-2959-11A-01W-0732-08 T T T C T T Verified Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq 1 dbGAP Illumina HiSeq 8c783e8d-d1d7-41cc-9b4d-e651f11d8fea 5f663626-659e-41d2-a1f5-934bb2c3ad8e 10 95781506 95781506 T C SNP PLCE1 NM_016341.3 human genbank 54_36p +1 validated missense c.713 p.M238T 0.287 NULL HMMPfam_C2,HMMSmart_SM00239,HMMPfam_RA,HMMSmart_SM00314,HMMPfam_PI-PLC-X,HMMSmart_SM00148,HMMPfam_PI-PLC-Y,HMMSmart_SM00149,HMMPfam_RasGEF,HMMSmart_SM00147,superfamily_Ras GEF,superfamily_C2 domain (Calcium/lipid-binding domain CaLB),HMMPfam_efhand_like,superfamily_PLC-like phosphodiesterases,superfamily_EF-hand - no_errors 187 3 1.56 54 31 36.47 NA NA NA +NRAP 0 genome.wustl.edu 37 10 115357815 115357815 + Missense_Mutation SNP G G T TCGA-AB-2959-03A-01W-0733-08 TCGA-AB-2959-11A-01W-0732-08 G G G T G G Verified Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq 1 dbGAP Illumina HiSeq 8c783e8d-d1d7-41cc-9b4d-e651f11d8fea 5f663626-659e-41d2-a1f5-934bb2c3ad8e 10 115347805 115347805 G T SNP NRAP NM_198060.3 human genbank 54_36p -1 validated missense c.4245 p.D1415E 1.000 HMMSmart_SM00227 HMMPfam_Nebulin,HMMSmart_SM00227,HMMPfam_LIM,HMMSmart_SM00132,PatternScan_LIM_DOMAIN_1,superfamily_Glucocorticoid receptor-like (DNA-binding domain) - no_errors 68 2 2.86 32 14 30.43 NA NA NA +SCUBE2 0 genome.wustl.edu 37 11 9100947 9100947 + Silent SNP G G A TCGA-AB-2959-03A-01W-0733-08 TCGA-AB-2959-11A-01W-0732-08 G G G A G G Verified Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq 1 dbGAP Illumina HiSeq 8c783e8d-d1d7-41cc-9b4d-e651f11d8fea 5f663626-659e-41d2-a1f5-934bb2c3ad8e 11 9057523 9057523 G A SNP SCUBE2 NM_020974.1 human genbank 54_36p -1 provisional silent c.366 p.D122 1.000 HMMSmart_SM00179,HMMSmart_SM00181,PatternScan_EGF_2,superfamily_EGF/Laminin PatternScan_ASX_HYDROXYL,HMMPfam_CUB,HMMSmart_SM00042,superfamily_Spermadhesin CUB domain,HMMSmart_SM00179,HMMPfam_EGF,HMMSmart_SM00181,superfamily_Growth factor receptor domain,HMMPfam_GCC2_GCC3,PatternScan_EGF_2,HMMPfam_EGF_CA,PatternScan_EGF_CA,superfamily_EGF/Laminin - no_errors 153 0 0.00 36 23 38.98 NA NA NA +CCDC67 0 genome.wustl.edu 37 11 93090127 93090127 + Missense_Mutation SNP G G A TCGA-AB-2959-03A-01W-0733-08 TCGA-AB-2959-11A-01W-0732-08 G G G A G G Verified Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq 1 dbGAP Illumina HiSeq 8c783e8d-d1d7-41cc-9b4d-e651f11d8fea 5f663626-659e-41d2-a1f5-934bb2c3ad8e 11 92729775 92729775 G A SNP CCDC67 NM_181645.3 human genbank 54_36p +1 validated missense c.215 p.R72Q 0.999 NULL NULL - no_errors 151 1 0.65 24 20 45.45 NA NA NA +AQP5 0 genome.wustl.edu 37 12 50357399 50357399 + Missense_Mutation SNP T T C TCGA-AB-2959-03A-01W-0733-08 TCGA-AB-2959-11A-01W-0732-08 T T T C T T Verified Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq 1 dbGAP Illumina HiSeq 8c783e8d-d1d7-41cc-9b4d-e651f11d8fea 5f663626-659e-41d2-a1f5-934bb2c3ad8e 12 48643666 48643666 T C SNP AQP5 NM_001651.2 human genbank 54_36p +1 reviewed missense c.488 p.L163P 0.991 HMMPfam_MIP,superfamily_MIP HMMPfam_MIP,PatternScan_MIP,superfamily_MIP - no_errors 21 1 4.55 4 4 50.00 NA NA NA +PABPC3 0 genome.wustl.edu 37 13 25670652 25670652 + Missense_Mutation SNP C C G TCGA-AB-2959-03A-01W-0733-08 TCGA-AB-2959-11A-01W-0732-08 C C C G C C Verified Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq 1 dbGAP Illumina HiSeq 8c783e8d-d1d7-41cc-9b4d-e651f11d8fea 5f663626-659e-41d2-a1f5-934bb2c3ad8e 13 24568652 24568652 C G SNP PABPC3 NM_030979.2 human genbank 54_36p +1 validated missense c.316 p.L106V 0.998 HMMPfam_RRM_1,HMMSmart_SM00360,HMMSmart_SM00361,superfamily_RNA-binding domain RBD HMMPfam_RRM_1,HMMSmart_SM00360,HMMPfam_PABP,HMMSmart_SM00517,superfamily_PABC (PABP) domain,HMMSmart_SM00361,superfamily_RNA-binding domain RBD - no_errors 105 1 0.94 57 10 14.93 NA NA NA +FLT1 0 genome.wustl.edu 37 13 28880869 28880869 + Missense_Mutation SNP A A G TCGA-AB-2959-03A-01W-0733-08 TCGA-AB-2959-11A-01W-0732-08 A A A G A A Verified Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq 1 dbGAP Illumina HiSeq 8c783e8d-d1d7-41cc-9b4d-e651f11d8fea 5f663626-659e-41d2-a1f5-934bb2c3ad8e 13 27778869 27778869 A G SNP FLT1 NM_002019.3 human genbank 54_36p -1 validated missense c.3761 p.M1254T 0.733 NULL HMMPfam_Pkinase_Tyr,HMMSmart_SM00219,PatternScan_RECEPTOR_TYR_KIN_III,HMMSmart_SM00220,HMMSmart_SM00406,HMMSmart_SM00408,HMMSmart_SM00409,PatternScan_PROTEIN_KINASE_TYR,superfamily_Protein kinase-like (PK-like),HMMPfam_I-set,HMMPfam_ig,PatternScan_PROTEIN_KINASE_ATP,superfamily_Immunoglobulin - no_errors 113 2 1.74 43 43 50.00 NA NA NA +PDS5B 0 genome.wustl.edu 37 13 33338670 33338670 + Missense_Mutation SNP A A G TCGA-AB-2959-03A-01W-0733-08 TCGA-AB-2959-11A-01W-0732-08 A A A G A A Verified Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq 1 dbGAP Illumina HiSeq 8c783e8d-d1d7-41cc-9b4d-e651f11d8fea 5f663626-659e-41d2-a1f5-934bb2c3ad8e 13 32236670 32236670 A G SNP PDS5B NM_015032.2 human genbank 54_36p +1 validated missense c.3562 p.T1188A 0.987 NULL HMMPfam_HEAT,superfamily_ARM repeat,HMMPfam_AT_hook - no_errors 159 1 0.62 52 10 16.13 71 24 25.26 +CEBPE 0 genome.wustl.edu 37 14 23586708 23586708 + Silent SNP C C A TCGA-AB-2959-03A-01W-0733-08 TCGA-AB-2959-11A-01W-0732-08 C C C A C C Verified Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq 1 dbGAP Illumina HiSeq 8c783e8d-d1d7-41cc-9b4d-e651f11d8fea 5f663626-659e-41d2-a1f5-934bb2c3ad8e 14 22656548 22656548 C A SNP CEBPE NM_001805.2 human genbank 54_36p -1 reviewed silent c.834 p.G278 0.996 NULL HMMSmart_BRLZ,PatternScan_BZIP_BASIC,HMMPfam_bZIP_2 - no_errors 92 0 0.00 32 36 52.94 NA NA NA +GZMB 0 genome.wustl.edu 37 14 25101212 25101212 + Missense_Mutation SNP G G A TCGA-AB-2959-03A-01W-0733-08 TCGA-AB-2959-11A-01W-0732-08 G G G A G G Verified Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq 1 dbGAP Illumina HiSeq 8c783e8d-d1d7-41cc-9b4d-e651f11d8fea 5f663626-659e-41d2-a1f5-934bb2c3ad8e 14 24171052 24171052 G A SNP GZMB NM_004131.4 human genbank 54_36p -1 reviewed missense c.452 p.A151V 0.000 HMMPfam_Trypsin,HMMSmart_SM00020,superfamily_Trypsin-like serine proteases HMMPfam_Trypsin,HMMSmart_SM00020,superfamily_Trypsin-like serine proteases,PatternScan_TRYPSIN_HIS,PatternScan_TRYPSIN_SER - no_errors 70 0 0.00 17 18 50.00 16 3 15.79 +CASC5 0 genome.wustl.edu 37 15 40916592 40916592 + Missense_Mutation SNP G G C TCGA-AB-2959-03A-01W-0733-08 TCGA-AB-2959-11A-01W-0732-08 G G G C G G Verified Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq 1 dbGAP Illumina HiSeq 8c783e8d-d1d7-41cc-9b4d-e651f11d8fea 5f663626-659e-41d2-a1f5-934bb2c3ad8e 15 38703884 38703884 G C SNP CASC5 NM_170589.3 human genbank 54_36p +1 validated missense c.4208 p.G1403A 0.044 NULL NULL - no_errors 99 1 1.00 21 18 46.15 30 12 28.57 +IDH2 0 genome.wustl.edu 37 15 90631934 90631934 + Missense_Mutation SNP C C T rs121913502 TCGA-AB-2959-03A-01W-0733-08 TCGA-AB-2959-11A-01W-0732-08 C C C T C C Verified Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq 1 dbGAP Illumina HiSeq 8c783e8d-d1d7-41cc-9b4d-e651f11d8fea 5f663626-659e-41d2-a1f5-934bb2c3ad8e 15 88432938 88432938 C T SNP IDH2 NM_002168.2 human genbank 54_36p -1 reviewed missense c.419 p.R140Q 1.000 HMMPfam_Iso_dh,superfamily_Isocitrate/Isopropylmalate dehydrogenase-like HMMPfam_Iso_dh,PatternScan_IDH_IMDH,superfamily_Isocitrate/Isopropylmalate dehydrogenase-like - no_errors 75 1 1.32 22 16 42.11 82 80 49.08 +NUP93 0 genome.wustl.edu 37 16 56832421 56832421 + Missense_Mutation SNP C C A TCGA-AB-2959-03A-01W-0733-08 TCGA-AB-2959-11A-01W-0732-08 C C C A C C Verified Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq 1 dbGAP Illumina HiSeq 8c783e8d-d1d7-41cc-9b4d-e651f11d8fea 5f663626-659e-41d2-a1f5-934bb2c3ad8e 16 55389922 55389922 C A SNP NUP93 NM_014669.3 human genbank 54_36p +1 validated missense c.331 p.L111M 1.000 NULL HMMPfam_Nic96 - no_errors 189 0 0.00 68 9 11.69 25 8 24.24 +RTN4RL1 0 genome.wustl.edu 37 17 1840686 1840686 + Missense_Mutation SNP C C T TCGA-AB-2959-03A-01W-0733-08 TCGA-AB-2959-11A-01W-0732-08 C C C T C C Verified Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq 1 dbGAP Illumina HiSeq 8c783e8d-d1d7-41cc-9b4d-e651f11d8fea 5f663626-659e-41d2-a1f5-934bb2c3ad8e 17 1787436 1787436 C T SNP RTN4RL1 NM_178568.2 human genbank 54_36p -1 validated missense c.430 p.V144I 1.000 HMMSmart_SM00369,superfamily_L domain-like HMMPfam_LRRNT,HMMSmart_SM00082,HMMPfam_LRR_1,HMMSmart_SM00369,superfamily_L domain-like - no_errors 23 0 0.00 18 10 34.48 NA NA NA +ZNF133 0 genome.wustl.edu 37 20 18297128 18297128 + Missense_Mutation SNP T T G TCGA-AB-2959-03A-01W-0733-08 TCGA-AB-2959-11A-01W-0732-08 T T T G T T Verified Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq 1 dbGAP Illumina HiSeq 8c783e8d-d1d7-41cc-9b4d-e651f11d8fea 5f663626-659e-41d2-a1f5-934bb2c3ad8e 20 18245128 18245128 T G SNP ZNF133 NM_001083330.1 human genbank 54_36p +1 validated missense c.1630 p.S544A 0.980 superfamily_SSF57667 HMMPfam_KRAB,HMMSmart_KRAB,superfamily_Krueppel-associated_box,HMMPfam_zf-C2H2,PatternScan_ZINC_FINGER_C2H2_1,HMMSmart_ZnF_C2H2,superfamily_SSF57667 - no_errors 125 1 0.79 26 20 43.48 0 1 100.00 +RUNX1 0 genome.wustl.edu 37 21 36231782 36231782 + Missense_Mutation SNP C C T rs74315450 TCGA-AB-2959-03A-01W-0733-08 TCGA-AB-2959-11A-01W-0732-08 C C C T C C Verified Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq 1 dbGAP Illumina HiSeq 8c783e8d-d1d7-41cc-9b4d-e651f11d8fea 5f663626-659e-41d2-a1f5-934bb2c3ad8e 21 35153652 35153652 C T SNP RUNX1 NM_001754.2 human genbank 54_36p -1 reviewed missense c.602 p.R201Q 1.000 superfamily_p53-like transcription factors,HMMPfam_Runt superfamily_p53-like transcription factors,HMMPfam_Runt,HMMPfam_RunxI - no_errors 102 0 0.00 6 40 86.96 9 825 97.40 +SMC1A 0 genome.wustl.edu 37 X 53426617 53426617 + Missense_Mutation SNP A A T TCGA-AB-2963-03A-01D-0739-09 TCGA-AB-2963-11A-01D-0739-09 A A A T A A Verified Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq 1 dbGAP Illumina HiSeq 8876f6ab-618d-4096-9e98-4f2063ef03b1 21a5533c-8f5d-4047-8daa-0ad9d86ea2e3 X 53443342 53443342 A T SNP SMC1A NM_006306.2 human genbank 54_36p -1 reviewed missense c.2456 p.I819N 1.000 HMMPfam_SMC_N,superfamily_SSF52540 HMMPfam_SMC_N,HMMPfam_SMC_hinge,superfamily_SMC_hinge,superfamily_SSF52540 - no_errors 508 4 0.78 292 353 54.73 71 114 61.62 +EPHA8 0 genome.wustl.edu 37 1 22915528 22915528 + Missense_Mutation SNP G G A TCGA-AB-2963-03A-01D-0739-09 TCGA-AB-2963-11A-01D-0739-09 G G G A G G Verified Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq 1 dbGAP Illumina HiSeq 8876f6ab-618d-4096-9e98-4f2063ef03b1 21a5533c-8f5d-4047-8daa-0ad9d86ea2e3 1 22788115 22788115 G A SNP EPHA8 NM_020526.1 human genbank 54_36p +1 reviewed missense c.1144 p.G382S 0.859 HMMPfam_fn3,HMMSmart_FN3,superfamily_FN_III-like HMMPfam_Ephrin_lbd,HMMSmart_EPH_lbd,HMMPfam_Pkinase_Tyr,HMMSmart_TyrKc,PatternScan_RECEPTOR_TYR_KIN_V_1,PatternScan_RECEPTOR_TYR_KIN_V_2,HMMPfam_SAM_1,HMMSmart_SAM,HMMPfam_fn3,HMMSmart_FN3,PatternScan_PROTEIN_KINASE_TYR,superfamily_FN_III-like,superfamily_Gal_bind_like,superfamily_SAM_homology,superfamily_Kinase_like,PatternScan_EGF_2,PatternScan_PROTEIN_KINASE_ATP - no_errors 1114 46 3.96 486 391 44.58 NA NA NA +FAM69A 0 genome.wustl.edu 37 1 93309546 93309546 + Silent SNP C C T TCGA-AB-2963-03A-01D-0739-09 TCGA-AB-2963-11A-01D-0739-09 C C C T C C Verified Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq 1 dbGAP Illumina HiSeq 8876f6ab-618d-4096-9e98-4f2063ef03b1 21a5533c-8f5d-4047-8daa-0ad9d86ea2e3 1 93082134 93082134 C T SNP FAM69A ENST00000370310 human ensembl 54_36p -1 known silent c.681 p.V227 1.000 NULL NULL - no_errors 664 15 2.21 694 528 43.14 3 1 25.00 +RAB17 0 genome.wustl.edu 37 2 238485934 238485934 + Missense_Mutation SNP G G A TCGA-AB-2963-03A-01D-0739-09 TCGA-AB-2963-11A-01D-0739-09 G G G A G G Verified Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq 1 dbGAP Illumina HiSeq 8876f6ab-618d-4096-9e98-4f2063ef03b1 21a5533c-8f5d-4047-8daa-0ad9d86ea2e3 2 238150673 238150673 G A SNP RAB17 NM_022449.2 human genbank 54_36p -1 provisional missense c.401 p.T134M 0.991 HMMSmart_RAB,HMMPfam_Ras,superfamily_SSF52540 HMMSmart_RAB,HMMPfam_Ras,superfamily_SSF52540 - no_errors 1061 33 3.01 295 257 46.47 NA NA NA +KIAA1239 0 genome.wustl.edu 37 4 37446702 37446702 + Missense_Mutation SNP A A G TCGA-AB-2963-03A-01D-0739-09 TCGA-AB-2963-11A-01D-0739-09 A A A G A A Verified Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq 1 dbGAP Illumina HiSeq 8876f6ab-618d-4096-9e98-4f2063ef03b1 21a5533c-8f5d-4047-8daa-0ad9d86ea2e3 4 37123097 37123097 A G SNP KIAA1239 ENST00000309447 human ensembl 54_36p +1 known missense c.1358 p.N453S 1.000 HMMSmart_SM00320,superfamily_WD40 repeat-like HMMSmart_SM00320,superfamily_WD40 repeat-like,PatternScan_WD_REPEATS_1 - no_start_codon 569 8 1.39 264 237 47.31 NA NA NA +RFC1 0 genome.wustl.edu 37 4 39308238 39308238 + Missense_Mutation SNP T T C TCGA-AB-2963-03A-01D-0739-09 TCGA-AB-2963-11A-01D-0739-09 T T T C T T Verified Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq 1 dbGAP Illumina HiSeq 8876f6ab-618d-4096-9e98-4f2063ef03b1 21a5533c-8f5d-4047-8daa-0ad9d86ea2e3 4 38984633 38984633 T C SNP RFC1 NM_002913.3 human genbank 54_36p -1 reviewed missense c.1969 p.T657A 1.000 HMMSmart_AAA,HMMPfam_AAA,superfamily_SSF52540 HMMPfam_BRCT,HMMSmart_BRCT,superfamily_BRCT,HMMSmart_AAA,HMMPfam_AAA,superfamily_Pol_clamp_load_C,HMMPfam_RFC1,superfamily_SSF52540 - no_errors 1011 18 1.75 999 807 44.59 17 23 57.50 +ETF1 0 genome.wustl.edu 37 5 137853261 137853261 + Missense_Mutation SNP A A C TCGA-AB-2963-03A-01D-0739-09 TCGA-AB-2963-11A-01D-0739-09 A A A C A A Verified Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq 1 dbGAP Illumina HiSeq 8876f6ab-618d-4096-9e98-4f2063ef03b1 21a5533c-8f5d-4047-8daa-0ad9d86ea2e3 5 137881160 137881160 A C SNP ETF1 NM_004730.2 human genbank 54_36p -1 validated missense c.391 p.F131V 1.000 HMMPfam_eRF1_1,superfamily_N-terminal domain of eukaryotic peptide chain release factor subunit 1 ERF1 HMMPfam_eRF1_1,HMMPfam_eRF1_2,HMMPfam_eRF1_3,superfamily_Translational machinery components,superfamily_L30e-like,superfamily_N-terminal domain of eukaryotic peptide chain release factor subunit 1 ERF1 - no_errors 225 7 2.99 143 113 43.97 22 35 61.40 +STC2 0 genome.wustl.edu 37 5 172745087 172745087 + Silent SNP C C T TCGA-AB-2963-03A-01D-0739-09 TCGA-AB-2963-11A-01D-0739-09 C C C T C C Verified Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq 1 dbGAP Illumina HiSeq 8876f6ab-618d-4096-9e98-4f2063ef03b1 21a5533c-8f5d-4047-8daa-0ad9d86ea2e3 5 172677693 172677693 C T SNP STC2 NM_003714.2 human genbank 54_36p -1 reviewed silent c.672 p.E224 0.052 HMMPfam_Stanniocalcin HMMPfam_Stanniocalcin - no_errors 547 12 2.15 143 131 47.81 NA NA NA +EGFL8 0 genome.wustl.edu 37 6 32135151 32135151 + Missense_Mutation SNP G G A TCGA-AB-2963-03A-01D-0739-09 TCGA-AB-2963-11A-01D-0739-09 G G G A G G Verified Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq 1 dbGAP Illumina HiSeq 8876f6ab-618d-4096-9e98-4f2063ef03b1 21a5533c-8f5d-4047-8daa-0ad9d86ea2e3 6 32243129 32243129 G A SNP EGFL8 NM_030652.2 human genbank 54_36p +1 validated missense c.626 p.R209H 0.574 NULL PatternScan_ASX_HYDROXYL,HMMSmart_SM00179,HMMPfam_EGF,HMMSmart_SM00181,HMMPfam_EMI,PatternScan_EGF_1,PatternScan_EGF_2,HMMPfam_EGF_CA,PatternScan_EGF_CA,superfamily_EGF/Laminin - no_errors 2115 47 2.17 552 542 49.50 2 2 50.00 +TCTE3 0 genome.wustl.edu 37 6 170143231 170143231 + Missense_Mutation SNP C C T TCGA-AB-2963-03A-01D-0739-09 TCGA-AB-2963-11A-01D-0739-09 C C C T C C Verified Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq 1 dbGAP Illumina HiSeq 8876f6ab-618d-4096-9e98-4f2063ef03b1 21a5533c-8f5d-4047-8daa-0ad9d86ea2e3 6 169885156 169885156 C T SNP TCTE3 NM_174910.1 human genbank 54_36p -1 provisional missense c.431 p.R144H 0.993 HMMPfam_Tctex-1 HMMPfam_Tctex-1 - no_errors 179 4 2.19 258 206 44.21 2 0 0.00 +BMS1 0 genome.wustl.edu 37 10 43289317 43289317 + Silent SNP C C A TCGA-AB-2963-03A-01D-0739-09 TCGA-AB-2963-11A-01D-0739-09 C C C A C C Verified Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq 1 dbGAP Illumina HiSeq 8876f6ab-618d-4096-9e98-4f2063ef03b1 21a5533c-8f5d-4047-8daa-0ad9d86ea2e3 10 42609323 42609323 C A SNP BMS1 NM_014753.3 human genbank 54_36p +1 reviewed silent c.1107 p.T369 0.980 superfamily_P-loop containing nucleoside triphosphate hydrolases HMMPfam_DUF663,HMMPfam_AARP2CN,HMMSmart_SM00785,superfamily_P-loop containing nucleoside triphosphate hydrolases - no_errors 1194 73 5.74 772 703 47.63 19 16 45.71 +UNC5B 0 genome.wustl.edu 37 10 73053675 73053675 + Silent SNP G G A TCGA-AB-2963-03A-01D-0739-09 TCGA-AB-2963-11A-01D-0739-09 G G G A G G Verified Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq 1 dbGAP Illumina HiSeq 8876f6ab-618d-4096-9e98-4f2063ef03b1 21a5533c-8f5d-4047-8daa-0ad9d86ea2e3 10 72723681 72723681 G A SNP UNC5B NM_170744.3 human genbank 54_36p +1 validated silent c.2160 p.T720 0.564 NULL HMMPfam_Death,HMMSmart_SM00005,HMMPfam_TSP_1,HMMSmart_SM00209,superfamily_TSP-1 type 1 repeat,HMMPfam_ZU5,HMMSmart_SM00218,HMMSmart_SM00408,HMMSmart_SM00409,superfamily_DEATH domain,HMMPfam_I-set,superfamily_Immunoglobulin - no_errors 598 10 1.63 176 167 48.55 0 1 100.00 +PTPN11 0 genome.wustl.edu 37 12 112926910 112926910 + Missense_Mutation SNP G G C TCGA-AB-2963-03A-01D-0739-09 TCGA-AB-2963-11A-01D-0739-09 G G G C G G Verified Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq 1 dbGAP Illumina HiSeq 8876f6ab-618d-4096-9e98-4f2063ef03b1 21a5533c-8f5d-4047-8daa-0ad9d86ea2e3 12 111411293 111411293 G C SNP PTPN11 NM_002834.3 human genbank 54_36p +1 reviewed missense c.1530 p.Q510H 1.000 HMMPfam_Y_phosphatase,HMMSmart_SM00194,HMMSmart_SM00404,superfamily_(Phosphotyrosine protein) phosphatases II HMMPfam_Y_phosphatase,HMMSmart_SM00194,HMMPfam_SH2,HMMSmart_SM00252,HMMSmart_SM00404,PatternScan_TYR_PHOSPHATASE_1,superfamily_(Phosphotyrosine protein) phosphatases II,superfamily_SH2 domain - no_errors 538 10 1.82 830 162 16.33 38 3 7.32 +FLT3 0 genome.wustl.edu 37 13 28592642 28592642 + Missense_Mutation SNP C C A rs121913488 TCGA-AB-2963-03A-01D-0739-09 TCGA-AB-2963-11A-01D-0739-09 C C C A C C Verified Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq 1 dbGAP Illumina HiSeq 8876f6ab-618d-4096-9e98-4f2063ef03b1 21a5533c-8f5d-4047-8daa-0ad9d86ea2e3 13 27490642 27490642 C A SNP FLT3 NM_004119.2 human genbank 54_36p -1 reviewed missense c.2503 p.D835Y 1.000 HMMPfam_Pkinase_Tyr,HMMSmart_TyrKc,superfamily_Kinase_like HMMPfam_Pkinase_Tyr,HMMSmart_TyrKc,PatternScan_RECEPTOR_TYR_KIN_III,PatternScan_PROTEIN_KINASE_TYR,superfamily_Kinase_like,HMMPfam_ig,PatternScan_PROTEIN_KINASE_ATP,superfamily_SSF48726 - no_errors 1451 4 0.27 887 142 13.80 324 77 19.15 +ZFHX3 0 genome.wustl.edu 37 16 72821134 72821134 + Missense_Mutation SNP C C T TCGA-AB-2963-03A-01D-0739-09 TCGA-AB-2963-11A-01D-0739-09 C C C T C C Verified Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq 1 dbGAP Illumina HiSeq 8876f6ab-618d-4096-9e98-4f2063ef03b1 21a5533c-8f5d-4047-8daa-0ad9d86ea2e3 16 71378635 71378635 C T SNP ZFHX3 NM_006885.3 human genbank 54_36p -1 validated missense c.11041 p.G3681S 1.000 NULL HMMPfam_Homeobox,HMMSmart_SM00389,HMMSmart_SM00451,HMMPfam_zf-C2H2,PatternScan_ZINC_FINGER_C2H2_1,superfamily_Homeodomain-like,HMMSmart_SM00355,PatternScan_HOMEOBOX_1,superfamily_C2H2 and C2HC zinc fingers - no_errors 1185 33 2.70 304 267 46.76 1 0 0.00 +BECN1 0 genome.wustl.edu 37 17 40970380 40970380 + Missense_Mutation SNP T T C TCGA-AB-2963-03A-01D-0739-09 TCGA-AB-2963-11A-01D-0739-09 T T T C T T Verified Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq 1 dbGAP Illumina HiSeq 8876f6ab-618d-4096-9e98-4f2063ef03b1 21a5533c-8f5d-4047-8daa-0ad9d86ea2e3 17 38223906 38223906 T C SNP BECN1 NM_003766.3 human genbank 54_36p -1 validated missense c.542 p.Q181R 0.968 HMMPfam_APG6 HMMPfam_APG6 - no_errors 1400 36 2.51 330 278 45.50 38 38 50.00 +NLRP8 0 genome.wustl.edu 37 19 56466946 56466946 + Missense_Mutation SNP G G C TCGA-AB-2963-03A-01D-0739-09 TCGA-AB-2963-11A-01D-0739-09 G G G C G G Verified Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq 1 dbGAP Illumina HiSeq 8876f6ab-618d-4096-9e98-4f2063ef03b1 21a5533c-8f5d-4047-8daa-0ad9d86ea2e3 19 61158758 61158758 G C SNP NLRP8 NM_176811.2 human genbank 54_36p +1 provisional missense c.1522 p.V508L 0.003 NULL HMMSmart_SM00368,HMMPfam_PAAD_DAPIN,HMMPfam_NACHT,superfamily_DEATH domain,superfamily_RNI-like,superfamily_P-loop containing nucleoside triphosphate hydrolases - no_errors 559 11 1.92 379 332 46.56 NA NA NA +LOC100129743 0 genome.wustl.edu 37 2 203905083 203905087 + Frame_Shift_Del DEL CATGC CATGC - TCGA-AB-2963-03A-01D-0739-09 TCGA-AB-2963-11A-01D-0739-09 CATGC CATGC CATGC - CATGC CATGC Verified Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq 1 dbGAP Illumina HiSeq 8876f6ab-618d-4096-9e98-4f2063ef03b1 21a5533c-8f5d-4047-8daa-0ad9d86ea2e3 2 203613328 203613332 CATGC - DEL LOC100129743 XM_001724736.1 human genbank 54_36p +1 model frame_shift_del c.253_257 p.A86fs 0.952:0.949:0.939:0.920:0.925 NULL HMMPfam_Ribosomal_L30,superfamily_Ribosomal protein L30p/L7e,PatternScan_RIBOSOMAL_L30 - pseudogene NA NA NA NA NA NA NA NA NA +NPM1 0 genome.wustl.edu 37 5 170837547 170837548 + Frame_Shift_Ins INS - - CCTG TCGA-AB-2963-03A-01D-0739-09 TCGA-AB-2963-11A-01D-0739-09 - - - CCTG - - Verified Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq 1 dbGAP Illumina HiSeq 8876f6ab-618d-4096-9e98-4f2063ef03b1 21a5533c-8f5d-4047-8daa-0ad9d86ea2e3 5 170770152 170770153 - CCTG INS NPM1 NM_002520.1 human genbank 54_36p +1 validated frame_shift_ins c.863_864 p.W288fs 1.000:1.000 NULL HMMPfam_Nucleoplasmin,superfamily_Nucleoplasmin-like core domain - no_errors NA NA NA NA NA NA NA NA NA +DAOA 0 genome.wustl.edu 37 13 106142385 106142385 + Frame_Shift_Del DEL C C - TCGA-AB-2963-03A-01D-0739-09 TCGA-AB-2963-11A-01D-0739-09 C C C - C C Verified Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq 1 dbGAP Illumina HiSeq 8876f6ab-618d-4096-9e98-4f2063ef03b1 21a5533c-8f5d-4047-8daa-0ad9d86ea2e3 13 104940386 104940386 C - DEL DAOA NM_172370.3 human genbank 54_36p +1 reviewed frame_shift_del c.417 p.Q140fs 0.000 NULL NULL - no_errors 587 15 2.48 368 276 42.27 0 0 0.00 +ARSF 0 genome.wustl.edu 37 X 3021841 3021841 + Missense_Mutation SNP G G A TCGA-AB-2964-03A-01D-0739-09 TCGA-AB-2964-11A-01D-0739-09 G G G A G G Verified Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq 1 dbGAP Illumina HiSeq 81878b07-8cd3-47ff-86e8-75ac7e99f4a7 4f7299ec-0ee1-4eb8-88fa-1a5007bab63a X 3031841 3031841 G A SNP ARSF NM_004042.3 human genbank 54_36p +1 reviewed missense c.1141 p.V381I 1.000 HMMPfam_Sulfatase,superfamily_Alkaline phosphatase-like HMMPfam_Sulfatase,PatternScan_SULFATASE_2,PatternScan_SULFATASE_1,superfamily_Alkaline phosphatase-like - no_errors 726 2 0.27 657 406 38.19 NA NA NA +SHROOM2 0 genome.wustl.edu 37 X 9900372 9900372 + Nonsense_Mutation SNP C C T TCGA-AB-2964-03A-01D-0739-09 TCGA-AB-2964-11A-01D-0739-09 C C C T C C Verified Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq 1 dbGAP Illumina HiSeq 81878b07-8cd3-47ff-86e8-75ac7e99f4a7 4f7299ec-0ee1-4eb8-88fa-1a5007bab63a X 9860372 9860372 C T SNP SHROOM2 NM_001649.2 human genbank 54_36p +1 reviewed nonsense c.3049 p.R1017* 0.732 NULL HMMPfam_PDZ,HMMSmart_SM00228,superfamily_PDZ domain-like,HMMPfam_ASD2,HMMPfam_ASD1 - no_errors 319 0 0.00 89 54 37.76 NA NA NA +CAPN6 0 genome.wustl.edu 37 X 110507007 110507007 + Missense_Mutation SNP C C T TCGA-AB-2964-03A-01D-0739-09 TCGA-AB-2964-11A-01D-0739-09 C C C T C C Verified Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq 1 dbGAP Illumina HiSeq 81878b07-8cd3-47ff-86e8-75ac7e99f4a7 4f7299ec-0ee1-4eb8-88fa-1a5007bab63a X 110393663 110393663 C T SNP CAPN6 NM_014289.2 human genbank 54_36p -1 reviewed missense c.158 p.R53H 0.998 HMMPfam_Peptidase_C2,HMMSmart_CysPc,superfamily_SSF54001 HMMPfam_C2,HMMSmart_C2,PatternScan_THIOL_PROTEASE_CYS,PatternScan_THIOL_PROTEASE_HIS,PatternScan_THIOL_PROTEASE_ASN,HMMPfam_Peptidase_C2,HMMPfam_Calpain_III,HMMSmart_CysPc,HMMSmart_calpain_III,superfamily_Peptidase_C2,superfamily_C2_CaLB,superfamily_SSF54001 - no_errors 1124 1 0.09 597 346 36.69 NA NA NA +STAG2 0 genome.wustl.edu 37 X 123205041 123205041 + Nonsense_Mutation SNP C C T TCGA-AB-2964-03A-01D-0739-09 TCGA-AB-2964-11A-01D-0739-09 C C C T C C Verified Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq 1 dbGAP Illumina HiSeq 81878b07-8cd3-47ff-86e8-75ac7e99f4a7 4f7299ec-0ee1-4eb8-88fa-1a5007bab63a X 123032722 123032722 C T SNP STAG2 NM_001042749.1 human genbank 54_36p +1 validated nonsense c.2401 p.Q801* 1.000 superfamily_ARM-type_fold HMMPfam_STAG,superfamily_ARM-type_fold - no_errors 669 1 0.15 655 435 39.84 0 7 100.00 +ZNF75D 0 genome.wustl.edu 37 X 134428053 134428053 + Missense_Mutation SNP T T C TCGA-AB-2964-03A-01D-0739-09 TCGA-AB-2964-11A-01D-0739-09 T T T C T T Verified Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq 1 dbGAP Illumina HiSeq 81878b07-8cd3-47ff-86e8-75ac7e99f4a7 4f7299ec-0ee1-4eb8-88fa-1a5007bab63a X 134255719 134255719 T C SNP ZNF75D NM_007131.2 human genbank 54_36p -1 validated missense c.14 p.E5G 0.003 NULL HMMPfam_KRAB,HMMSmart_KRAB,superfamily_Krueppel-associated_box,HMMPfam_SCAN,HMMSmart_SCAN,HMMPfam_zf-C2H2,PatternScan_ZINC_FINGER_C2H2_1,HMMSmart_ZnF_C2H2,superfamily_SSF57667 - no_errors 739 1 0.13 430 299 41.02 0 2 100.00 +CAMTA1 0 genome.wustl.edu 37 1 7721815 7721815 + Missense_Mutation SNP G G A TCGA-AB-2964-03A-01D-0739-09 TCGA-AB-2964-11A-01D-0739-09 G G G A G G Verified Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq 1 dbGAP Illumina HiSeq 81878b07-8cd3-47ff-86e8-75ac7e99f4a7 4f7299ec-0ee1-4eb8-88fa-1a5007bab63a 1 7644402 7644402 G A SNP CAMTA1 NM_015215.1 human genbank 54_36p +1 validated missense c.694 p.G232R 1.000 NULL HMMPfam_IQ,HMMPfam_Ank,superfamily_Ankyrin repeat,HMMPfam_TIG,HMMPfam_CG-1,superfamily_E set domains,superfamily_P-loop containing nucleoside triphosphate hydrolases - no_errors 151 0 0.00 83 43 34.13 NA NA NA +AHCYL1 0 genome.wustl.edu 37 1 110561263 110561263 + Silent SNP C C T TCGA-AB-2964-03A-01D-0739-09 TCGA-AB-2964-11A-01D-0739-09 C C C T C C Verified Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq 1 dbGAP Illumina HiSeq 81878b07-8cd3-47ff-86e8-75ac7e99f4a7 4f7299ec-0ee1-4eb8-88fa-1a5007bab63a 1 110362786 110362786 C T SNP AHCYL1 NM_006621.4 human genbank 54_36p +1 validated silent c.1308 p.L436 0.942 HMMPfam_AdoHcyase,HMMPfam_AdoHcyase_NAD,superfamily_NAD(P)-binding Rossmann-fold domains,superfamily_Formate/glycerate dehydrogenase catalytic domain-like HMMPfam_AdoHcyase,HMMPfam_AdoHcyase_NAD,superfamily_NAD(P)-binding Rossmann-fold domains,PatternScan_ADOHCYASE_1,PatternScan_ADOHCYASE_2,superfamily_Formate/glycerate dehydrogenase catalytic domain-like - no_errors 430 2 0.46 403 290 41.85 51 48 48.48 +CACNA1E 0 genome.wustl.edu 37 1 181689358 181689358 + Missense_Mutation SNP C C T TCGA-AB-2964-03A-01D-0739-09 TCGA-AB-2964-11A-01D-0739-09 C C C T C C Verified Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq 1 dbGAP Illumina HiSeq 81878b07-8cd3-47ff-86e8-75ac7e99f4a7 4f7299ec-0ee1-4eb8-88fa-1a5007bab63a 1 179955981 179955981 C T SNP CACNA1E NM_000721.2 human genbank 54_36p +1 reviewed missense c.1768 p.R590W 1.000 HMMPfam_Ion_trans,superfamily_Voltage-gated potassium channels HMMPfam_Ion_trans,HMMPfam_Ca_chan_IQ,superfamily_Voltage-gated potassium channels - no_errors 589 2 0.34 334 236 41.33 NA NA NA +OR5K3 0 genome.wustl.edu 37 3 98110321 98110321 + Missense_Mutation SNP C C G TCGA-AB-2964-03A-01D-0739-09 TCGA-AB-2964-11A-01D-0739-09 C C C G C C Verified Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq 1 dbGAP Illumina HiSeq 81878b07-8cd3-47ff-86e8-75ac7e99f4a7 4f7299ec-0ee1-4eb8-88fa-1a5007bab63a 3 99593011 99593011 C G SNP OR5K3 NM_001005516.1 human genbank 54_36p +1 provisional missense c.812 p.P271R 0.000 HMMPfam_7tm_1,superfamily_SSF81321 HMMPfam_7tm_1,PatternScan_G_PROTEIN_RECEP_F1_1,superfamily_SSF81321 - no_errors 559 2 0.36 381 342 47.24 NA NA NA +TACR3 0 genome.wustl.edu 37 4 104510899 104510899 + Silent SNP A A G TCGA-AB-2964-03A-01D-0739-09 TCGA-AB-2964-11A-01D-0739-09 A A A G A A Verified Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq 1 dbGAP Illumina HiSeq 81878b07-8cd3-47ff-86e8-75ac7e99f4a7 4f7299ec-0ee1-4eb8-88fa-1a5007bab63a 4 104730348 104730348 A G SNP TACR3 NM_001059.1 human genbank 54_36p -1 reviewed silent c.1338 p.S446 0.958 NULL HMMPfam_7tm_1,PatternScan_G_PROTEIN_RECEP_F1_1,superfamily_SSF81321 - no_errors 489 2 0.41 996 667 40.08 NA NA NA +TET2 0 genome.wustl.edu 37 4 106157845 106157845 + Nonsense_Mutation SNP C C T TCGA-AB-2964-03A-01D-0739-09 TCGA-AB-2964-11A-01D-0739-09 C C C T C C Verified Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq 1 dbGAP Illumina HiSeq 81878b07-8cd3-47ff-86e8-75ac7e99f4a7 4f7299ec-0ee1-4eb8-88fa-1a5007bab63a 4 106377294 106377294 C T SNP TET2 NM_017628.1 human genbank 54_36p +1 validated nonsense c.2746 p.Q916* 0.006 NULL NULL - no_errors 675 0 0.00 688 492 41.69 19 15 44.12 +TET2 0 genome.wustl.edu 37 4 106197333 106197333 + Missense_Mutation SNP C C T TCGA-AB-2964-03A-01D-0739-09 TCGA-AB-2964-11A-01D-0739-09 C C C T C C Verified Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq 1 dbGAP Illumina HiSeq 81878b07-8cd3-47ff-86e8-75ac7e99f4a7 4f7299ec-0ee1-4eb8-88fa-1a5007bab63a 4 106416782 106416782 C T SNP TET2 ENST00000265149 human ensembl 54_36p +1 known missense c.2072 p.P691L 1.000 NULL NULL - no_start_codon 317 6 1.86 781 602 43.50 17 11 39.29 +STC2 0 genome.wustl.edu 37 5 172744952 172744952 + Silent SNP G G A TCGA-AB-2964-03A-01D-0739-09 TCGA-AB-2964-11A-01D-0739-09 G G G A G G Verified Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq 1 dbGAP Illumina HiSeq 81878b07-8cd3-47ff-86e8-75ac7e99f4a7 4f7299ec-0ee1-4eb8-88fa-1a5007bab63a 5 172677558 172677558 G A SNP STC2 NM_003714.2 human genbank 54_36p -1 reviewed silent c.807 p.N269 0.153 HMMPfam_Stanniocalcin HMMPfam_Stanniocalcin - no_errors 290 3 1.02 55 44 44.44 NA NA NA +ELN 0 genome.wustl.edu 37 7 73452038 73452038 + Silent SNP G G A TCGA-AB-2964-03A-01D-0739-09 TCGA-AB-2964-11A-01D-0739-09 G G G A G G Verified Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq 1 dbGAP Illumina HiSeq 81878b07-8cd3-47ff-86e8-75ac7e99f4a7 4f7299ec-0ee1-4eb8-88fa-1a5007bab63a 7 73089974 73089974 G A SNP ELN NM_000501.2 human genbank 54_36p +1 reviewed silent c.165 p.A55 0.285 NULL PatternScan_ENDONUCLEASE_III_2,PatternScan_HEXAPEP_TRANSFERASES - no_errors 226 0 0.00 64 28 30.43 NA NA NA +MUC5B 0 genome.wustl.edu 37 11 1271786 1271786 + Missense_Mutation SNP T T C TCGA-AB-2964-03A-01D-0739-09 TCGA-AB-2964-11A-01D-0739-09 T T T C T T Verified Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq 1 dbGAP Illumina HiSeq 81878b07-8cd3-47ff-86e8-75ac7e99f4a7 4f7299ec-0ee1-4eb8-88fa-1a5007bab63a 11 1228362 1228362 T C SNP MUC5B NM_002458.1 human genbank 54_36p +1 validated missense c.13685 p.V4562A 0.000 NULL HMMPfam_VWC,HMMSmart_SM00214,PatternScan_VWFC_1,HMMPfam_VWD,HMMSmart_SM00216,superfamily_Serine proterase inhibitors,HMMSmart_SM00041,PatternScan_CTCK_1,HMMPfam_Cys_knot,HMMSmart_SM00215,superfamily_PMP inhibitors,HMMPfam_C8,HMMPfam_TIL - no_errors 5 2 28.57 4 1 20.00 NA NA NA +OR6A2 0 genome.wustl.edu 37 11 6816373 6816373 + Silent SNP C C T TCGA-AB-2964-03A-01D-0739-09 TCGA-AB-2964-11A-01D-0739-09 C C C T C C Verified Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq 1 dbGAP Illumina HiSeq 81878b07-8cd3-47ff-86e8-75ac7e99f4a7 4f7299ec-0ee1-4eb8-88fa-1a5007bab63a 11 6772949 6772949 C T SNP OR6A2 NM_003696.2 human genbank 54_36p -1 provisional silent c.567 p.L189 0.006 HMMPfam_7tm_1,superfamily_SSF81321 HMMPfam_7tm_1,PatternScan_G_PROTEIN_RECEP_F1_1,superfamily_SSF81321 - no_errors 1237 9 0.72 1422 1065 42.82 NA NA NA +TMTC2 0 genome.wustl.edu 37 12 83526070 83526070 + Missense_Mutation SNP G G A TCGA-AB-2964-03A-01D-0739-09 TCGA-AB-2964-11A-01D-0739-09 G G G A G G Verified Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq 1 dbGAP Illumina HiSeq 81878b07-8cd3-47ff-86e8-75ac7e99f4a7 4f7299ec-0ee1-4eb8-88fa-1a5007bab63a 12 82050201 82050201 G A SNP TMTC2 NM_152588.1 human genbank 54_36p +1 provisional missense c.2413 p.A805T 1.000 HMMPfam_TPR_1,HMMSmart_SM00028,superfamily_TPR-like HMMPfam_TPR_1,HMMPfam_TPR_2,HMMPfam_DUF1736,HMMSmart_SM00028,superfamily_TPR-like - no_errors 863 1 0.12 407 421 50.66 5 0 0.00 +ZFHX2 0 genome.wustl.edu 37 14 23995221 23995221 + Silent SNP G G T TCGA-AB-2964-03A-01D-0739-09 TCGA-AB-2964-11A-01D-0739-09 G G G T G G Verified Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq 1 dbGAP Illumina HiSeq 81878b07-8cd3-47ff-86e8-75ac7e99f4a7 4f7299ec-0ee1-4eb8-88fa-1a5007bab63a 14 23065061 23065061 G T SNP ZFHX2 XM_001720095.1 human genbank 54_36p -1 model silent c.4332 p.G1444 0.892 NULL HMMPfam_Homeobox,HMMSmart_SM00389,HMMSmart_SM00451,HMMPfam_zf-C2H2,PatternScan_ZINC_FINGER_C2H2_1,superfamily_Homeodomain-like,HMMSmart_SM00355,PatternScan_HOMEOBOX_1,superfamily_C2H2 and C2HC zinc fingers - no_errors 1206 2 0.17 483 369 43.21 NA NA NA +ARHGAP5 0 genome.wustl.edu 37 14 32560488 32560488 + Missense_Mutation SNP G G A TCGA-AB-2964-03A-01D-0739-09 TCGA-AB-2964-11A-01D-0739-09 G G G A G G Verified Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq 1 dbGAP Illumina HiSeq 81878b07-8cd3-47ff-86e8-75ac7e99f4a7 4f7299ec-0ee1-4eb8-88fa-1a5007bab63a 14 31630239 31630239 G A SNP ARHGAP5 NM_001030055.1 human genbank 54_36p +1 reviewed missense c.613 p.V205M 1.000 HMMPfam_Ras,superfamily_P-loop containing nucleoside triphosphate hydrolases HMMPfam_RhoGAP,HMMSmart_SM00324,HMMPfam_FF,HMMSmart_SM00441,superfamily_FF domain,superfamily_GTPase activation domain GAP,HMMPfam_Ras,superfamily_P-loop containing nucleoside triphosphate hydrolases - no_errors 1020 4 0.39 371 268 41.94 12 3 20.00 +PRSS27 0 genome.wustl.edu 37 16 2763665 2763665 + Silent SNP G G C TCGA-AB-2964-03A-01D-0739-09 TCGA-AB-2964-11A-01D-0739-09 G G G C G G Verified Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq 1 dbGAP Illumina HiSeq 81878b07-8cd3-47ff-86e8-75ac7e99f4a7 4f7299ec-0ee1-4eb8-88fa-1a5007bab63a 16 2703666 2703666 G C SNP PRSS27 NM_031948.3 human genbank 54_36p -1 validated silent c.543 p.L181 0.031 HMMPfam_Trypsin,HMMSmart_Tryp_SPc,superfamily_Pept_Ser_Cys HMMPfam_Trypsin,HMMSmart_Tryp_SPc,superfamily_Pept_Ser_Cys,PatternScan_TRYPSIN_HIS,PatternScan_TRYPSIN_SER - no_errors 294 0 0.00 77 61 44.20 3 0 0.00 +FAM5C 0 genome.wustl.edu 37 1 190067990 190067990 + Missense_Mutation SNP C C T TCGA-AB-2965-03A-01D-0739-09 TCGA-AB-2965-11A-01D-0739-09 C C C T C C Verified Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq 1 dbGAP Illumina HiSeq 3467d556-ea36-46aa-b48f-29896f5b56f3 882146d8-0b40-490b-b405-7ba28bf8aaa0 1 188334613 188334613 C T SNP FAM5C NM_199051.1 human genbank 54_36p -1 provisional missense c.1459 p.G487S 1.000 NULL HMMPfam_MACPF,HMMSmart_SM00457 - no_errors 382 58 13.18 308 275 47.09 NA NA NA +DNMT3A 0 genome.wustl.edu 37 2 25457242 25457242 + Missense_Mutation SNP C C T TCGA-AB-2965-03A-01D-0739-09 TCGA-AB-2965-11A-01D-0739-09 C C C T C C Verified Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq 1 dbGAP Illumina HiSeq 3467d556-ea36-46aa-b48f-29896f5b56f3 882146d8-0b40-490b-b405-7ba28bf8aaa0 2 25310746 25310746 C T SNP DNMT3A NM_022552.3 human genbank 54_36p -1 reviewed missense c.2645 p.R882H 1.000 superfamily_S-adenosyl-L-methionine-dependent methyltransferases HMMPfam_PWWP,HMMSmart_SM00293,HMMPfam_DNA_methylase,superfamily_FYVE/PHD zinc finger,PatternScan_C5_MTASE_1,superfamily_S-adenosyl-L-methionine-dependent methyltransferases,superfamily_Tudor/PWWP/MBT - no_errors 21 4 16.00 12 10 45.45 16 15 48.39 +LOC730032 0 genome.wustl.edu 37 2 131674718 131674718 + Missense_Mutation SNP G G A TCGA-AB-2965-03A-01D-0739-09 TCGA-AB-2965-11A-01D-0739-09 G G G A G G Verified Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq 1 dbGAP Illumina HiSeq 3467d556-ea36-46aa-b48f-29896f5b56f3 882146d8-0b40-490b-b405-7ba28bf8aaa0 2 131391188 131391188 G A SNP LOC730032 XM_001132160.2 human genbank 54_36p +1 model missense c.3199 p.A1067T 0.000 NULL NULL - no_errors 93 14 13.08 99 110 52.63 NA NA NA +VIPR1 0 genome.wustl.edu 37 3 42555253 42555253 + Missense_Mutation SNP G G A TCGA-AB-2965-03A-01D-0739-09 TCGA-AB-2965-11A-01D-0739-09 G G G A G G Verified Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq 1 dbGAP Illumina HiSeq 3467d556-ea36-46aa-b48f-29896f5b56f3 882146d8-0b40-490b-b405-7ba28bf8aaa0 3 42530257 42530257 G A SNP VIPR1 NM_004624.3 human genbank 54_36p +1 validated missense c.91 p.A31T 0.000 superfamily_Hormone receptor domain (HRM Pfam 02793) HMMPfam_7tm_2,HMMPfam_HRM,HMMSmart_SM00008,PatternScan_G_PROTEIN_RECEP_F2_1,PatternScan_G_PROTEIN_RECEP_F2_2,superfamily_Hormone receptor domain (HRM Pfam 02793),superfamily_Family A G protein-coupled receptor-like - no_errors 342 48 12.24 87 115 56.93 NA NA NA +HK1 0 genome.wustl.edu 37 10 71158533 71158533 + Missense_Mutation SNP G G A TCGA-AB-2965-03A-01D-0739-09 TCGA-AB-2965-11A-01D-0739-09 G G G A G G Verified Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq 1 dbGAP Illumina HiSeq 3467d556-ea36-46aa-b48f-29896f5b56f3 882146d8-0b40-490b-b405-7ba28bf8aaa0 10 70828539 70828539 G A SNP HK1 NM_033497.2 human genbank 54_36p +1 reviewed missense c.2570 p.R857H 0.888 HMMPfam_Hexokinase_2,superfamily_SSF53067 HMMPfam_Hexokinase_1,HMMPfam_Hexokinase_2,PatternScan_HEXOKINASES,superfamily_SSF53067 - no_errors 557 119 17.47 190 183 48.93 32 27 45.76 +RASSF7 0 genome.wustl.edu 37 11 562159 562159 + Missense_Mutation SNP G G T TCGA-AB-2965-03A-01D-0739-09 TCGA-AB-2965-11A-01D-0739-09 G G G T G G Verified Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq 1 dbGAP Illumina HiSeq 3467d556-ea36-46aa-b48f-29896f5b56f3 882146d8-0b40-490b-b405-7ba28bf8aaa0 11 552159 552159 G T SNP RASSF7 NM_003475.1 human genbank 54_36p +1 validated missense c.205 p.A69S 0.996 HMMPfam_RA,HMMSmart_SM00314 HMMPfam_RA,HMMSmart_SM00314 - no_errors 59 6 9.23 28 20 41.67 3 5 62.50 +EFTUD1 0 genome.wustl.edu 37 15 82530687 82530687 + Missense_Mutation SNP T T C TCGA-AB-2965-03A-01D-0739-09 TCGA-AB-2965-11A-01D-0739-09 T T T C T T Verified Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq 1 dbGAP Illumina HiSeq 3467d556-ea36-46aa-b48f-29896f5b56f3 882146d8-0b40-490b-b405-7ba28bf8aaa0 15 80317742 80317742 T C SNP EFTUD1 NM_024580.2 human genbank 54_36p -1 validated missense c.692 p.N231S 0.997 HMMPfam_GTP_EFTU,superfamily_P-loop containing nucleoside triphosphate hydrolases HMMPfam_EFG_C,HMMPfam_GTP_EFTU,HMMPfam_EFG_IV,superfamily_Translation proteins,superfamily_EF-G C-terminal domain-like,superfamily_Ribosomal protein S5 domain 2-like,superfamily_P-loop containing nucleoside triphosphate hydrolases - no_errors 376 59 13.56 191 197 50.77 8 11 57.89 +ZNF689 0 genome.wustl.edu 37 16 30616519 30616519 + Missense_Mutation SNP G G C TCGA-AB-2965-03A-01D-0739-09 TCGA-AB-2965-11A-01D-0739-09 G G G C G G Verified Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq 1 dbGAP Illumina HiSeq 3467d556-ea36-46aa-b48f-29896f5b56f3 882146d8-0b40-490b-b405-7ba28bf8aaa0 16 30524020 30524020 G C SNP ZNF689 NM_138447.1 human genbank 54_36p -1 provisional missense c.569 p.S190C 0.705 HMMPfam_zf-C2H2,PatternScan_ZINC_FINGER_C2H2_1,HMMSmart_ZnF_C2H2,superfamily_SSF57667 HMMPfam_KRAB,HMMSmart_KRAB,superfamily_Krueppel-associated_box,HMMPfam_zf-C2H2,PatternScan_ZINC_FINGER_C2H2_1,HMMSmart_ZnF_C2H2,superfamily_SSF57667 - no_errors 386 61 13.62 126 96 43.24 2 6 75.00 +TET2 0 genome.wustl.edu 37 4 106180919 106180919 + Frame_Shift_Del DEL C C - TCGA-AB-2965-03A-01D-0739-09 TCGA-AB-2965-11A-01D-0739-09 C C C - C C Verified Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq 1 dbGAP Illumina HiSeq 3467d556-ea36-46aa-b48f-29896f5b56f3 882146d8-0b40-490b-b405-7ba28bf8aaa0 4 106400368 106400368 C - DEL TET2 ENST00000265149 human ensembl 54_36p +1 known frame_shift_del c.353 p.P118fs 1.000 NULL NULL - no_start_codon 213 0 0.00 202 0 0.00 11 0 0.00 +NPM1 0 genome.wustl.edu 37 5 170837547 170837548 + Frame_Shift_Ins INS - - TCTG TCGA-AB-2965-03A-01D-0739-09 TCGA-AB-2965-11A-01D-0739-09 - - - TCTG - - Verified Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq 1 dbGAP Illumina HiSeq 3467d556-ea36-46aa-b48f-29896f5b56f3 882146d8-0b40-490b-b405-7ba28bf8aaa0 5 170770152 170770153 - TCTG INS NPM1 NM_002520.1 human genbank 54_36p +1 validated frame_shift_ins c.863_864 p.W288fs 1.000:1.000 NULL HMMPfam_Nucleoplasmin,superfamily_Nucleoplasmin-like core domain - no_errors NA NA NA NA NA NA NA NA NA +FLT3 0 genome.wustl.edu 37 13 28608338 28608339 + In_Frame_Ins INS - - TTCTCTGAAATCAACGTAGAAGTACTCATTATCTGAGGAGCCGGTCACCTGTACCATCTGTAGCTGGCTTTT TCGA-AB-2965-03A-01D-0739-09 TCGA-AB-2965-11A-01D-0739-09 - - - TTCTCTGAAATCAACGTAGAAGTACTCATTATCTGAGGAGCCGGTCACCTGTACCATCTGTAGCTGGCTTTT - - Verified Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq 1 dbGAP Illumina HiSeq 3467d556-ea36-46aa-b48f-29896f5b56f3 882146d8-0b40-490b-b405-7ba28bf8aaa0 13 27506338 27506339 - TTCTCTGAAATCAACGTAGAAGTACTCATTATCTGAGGAGCCGGTCACCTGTACCATCTGTAGCTGGCTTTT INS FLT3 NM_004119.2 human genbank 54_36p -1 reviewed in_frame_ins c.1718_1717 p.574in_frame_insKPATDGTGDRLLR**VLLR*FQRK 1.000:1.000 superfamily_Kinase_like HMMPfam_Pkinase_Tyr,HMMSmart_TyrKc,PatternScan_RECEPTOR_TYR_KIN_III,PatternScan_PROTEIN_KINASE_TYR,superfamily_Kinase_like,HMMPfam_ig,PatternScan_PROTEIN_KINASE_ATP,superfamily_SSF48726 - no_errors NA NA NA NA NA NA NA NA NA +HCFC1 0 genome.wustl.edu 37 X 153230156 153230156 + Missense_Mutation SNP G G A TCGA-AB-2966-03A-01D-0739-09 TCGA-AB-2966-11A-01D-0739-09 G G G A G G Verified Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq 1 dbGAP Illumina HiSeq ea13b395-dade-4e11-bedf-a1f36bccfab7 8b0f12c9-65dd-4a1e-9bba-ace290edfddc X 152883350 152883350 G A SNP HCFC1 NM_005334.2 human genbank 54_36p -1 reviewed missense c.215 p.P72L 1.000 superfamily_Galactose oxidase central domain HMMPfam_fn3,HMMSmart_SM00060,HMMPfam_Kelch_1,superfamily_Fibronectin type III,superfamily_Galactose oxidase central domain,HMMPfam_Kelch_2 - no_errors 173 2 1.14 133 115 46.18 25 112 81.75 +ENSG00000210557 0 genome.wustl.edu 37 1 51696933 51696933 + RNA SNP C C T TCGA-AB-2966-03A-01D-0739-09 TCGA-AB-2966-11A-01D-0739-09 C C C T C C Verified Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq 1 dbGAP Illumina HiSeq ea13b395-dade-4e11-bedf-a1f36bccfab7 8b0f12c9-65dd-4a1e-9bba-ace290edfddc 1 51469521 51469521 C T SNP ENSG00000210557 ENST00000387822 human ensembl 54_36p -1 novel rna NULL NULL 0.000 - - - pseudogene 173 1 0.57 164 132 44.59 3 0 0.00 +LRRC40 0 genome.wustl.edu 37 1 70614235 70614235 + Silent SNP C C T TCGA-AB-2966-03A-01D-0739-09 TCGA-AB-2966-11A-01D-0739-09 C C C T C C Verified Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq 1 dbGAP Illumina HiSeq ea13b395-dade-4e11-bedf-a1f36bccfab7 8b0f12c9-65dd-4a1e-9bba-ace290edfddc 1 70386823 70386823 C T SNP LRRC40 NM_017768.3 human genbank 54_36p -1 provisional silent c.1638 p.T546 0.095 HMMPfam_LRR_1,HMMSmart_LRR_TYP,superfamily_SSF52058 HMMPfam_LRR_1,HMMSmart_LRR_TYP,superfamily_SSF52058 - no_errors 538 2 0.37 279 231 45.21 10 12 54.55 +RGS8 0 genome.wustl.edu 37 1 182616020 182616020 + Silent SNP C C T TCGA-AB-2966-03A-01D-0739-09 TCGA-AB-2966-11A-01D-0739-09 C C C T C C Verified Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq 1 dbGAP Illumina HiSeq ea13b395-dade-4e11-bedf-a1f36bccfab7 8b0f12c9-65dd-4a1e-9bba-ace290edfddc 1 180882643 180882643 C T SNP RGS8 NM_033345.1 human genbank 54_36p -1 reviewed silent c.447 p.T149 0.990 HMMPfam_RGS,HMMSmart_RGS,superfamily_Regulat_G_prot_signal_superfam HMMPfam_RGS,HMMSmart_RGS,superfamily_Regulat_G_prot_signal_superfam - no_errors 246 9 3.52 232 144 38.20 NA NA NA +LOC100131253 0 genome.wustl.edu 37 2 225364617 225364617 + RNA SNP T T A TCGA-AB-2966-03A-01D-0739-09 TCGA-AB-2966-11A-01D-0739-09 T T T A T T Verified Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq 1 dbGAP Illumina HiSeq ea13b395-dade-4e11-bedf-a1f36bccfab7 8b0f12c9-65dd-4a1e-9bba-ace290edfddc 2 225072861 225072861 T A SNP LOC100131253 XR_039607.1 human genbank 54_36p -1 model rna NULL NULL 0.261 - - - pseudogene 379 0 0.00 336 275 44.93 7 2 22.22 +VCAN 0 genome.wustl.edu 37 5 82816697 82816697 + Missense_Mutation SNP C C A TCGA-AB-2966-03A-01D-0739-09 TCGA-AB-2966-11A-01D-0739-09 C C C A C C Verified Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq 1 dbGAP Illumina HiSeq ea13b395-dade-4e11-bedf-a1f36bccfab7 8b0f12c9-65dd-4a1e-9bba-ace290edfddc 5 82852453 82852453 C A SNP VCAN NM_004385.1 human genbank 54_36p +1 validated missense c.2572 p.P858T 0.008 NULL PatternScan_ASX_HYDROXYL,HMMPfam_Sushi,HMMSmart_SM00032,HMMPfam_Xlink,HMMSmart_SM00445,PatternScan_LINK_1,HMMPfam_Lectin_C,HMMSmart_SM00034,HMMSmart_SM00179,HMMSmart_SM00409,HMMPfam_EGF,HMMSmart_SM00181,PatternScan_EGF_1,PatternScan_EGF_2,HMMPfam_V-set,superfamily_Complement control module/SCR domain,superfamily_C-type lectin-like,PatternScan_EGF_CA,PatternScan_C_TYPE_LECTIN_1,superfamily_Immunoglobulin,superfamily_EGF/Laminin - no_errors 808 3 0.37 312 257 45.09 NA NA NA +WAC 0 genome.wustl.edu 37 10 28824556 28824556 + Silent SNP C C T TCGA-AB-2966-03A-01D-0739-09 TCGA-AB-2966-11A-01D-0739-09 C C C T C C Verified Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq 1 dbGAP Illumina HiSeq ea13b395-dade-4e11-bedf-a1f36bccfab7 8b0f12c9-65dd-4a1e-9bba-ace290edfddc 10 28864562 28864562 C T SNP WAC NM_016628.3 human genbank 54_36p +1 reviewed silent c.144 p.D48 1.000 NULL HMMPfam_WW,HMMSmart_SM00456,PatternScan_WW_DOMAIN_1,superfamily_WW domain - no_errors 358 9 2.45 343 298 46.42 102 111 52.11 +PLCE1 0 genome.wustl.edu 37 10 95993941 95993941 + Missense_Mutation SNP C C A TCGA-AB-2966-03A-01D-0739-09 TCGA-AB-2966-11A-01D-0739-09 C C C A C C Verified Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq 1 dbGAP Illumina HiSeq ea13b395-dade-4e11-bedf-a1f36bccfab7 8b0f12c9-65dd-4a1e-9bba-ace290edfddc 10 95983931 95983931 C A SNP PLCE1 NM_016341.3 human genbank 54_36p +1 validated missense c.2086 p.H696N 1.000 HMMPfam_RasGEF,HMMSmart_SM00147,superfamily_Ras GEF HMMPfam_C2,HMMSmart_SM00239,HMMPfam_RA,HMMSmart_SM00314,HMMPfam_PI-PLC-X,HMMSmart_SM00148,HMMPfam_PI-PLC-Y,HMMSmart_SM00149,HMMPfam_RasGEF,HMMSmart_SM00147,superfamily_Ras GEF,superfamily_C2 domain (Calcium/lipid-binding domain CaLB),HMMPfam_efhand_like,superfamily_PLC-like phosphodiesterases,superfamily_EF-hand - no_errors 317 0 0.00 329 244 42.58 NA NA NA +SFXN2 0 genome.wustl.edu 37 10 104489530 104489530 + Silent SNP G G A TCGA-AB-2966-03A-01D-0739-09 TCGA-AB-2966-11A-01D-0739-09 G G G A G G Verified Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq 1 dbGAP Illumina HiSeq ea13b395-dade-4e11-bedf-a1f36bccfab7 8b0f12c9-65dd-4a1e-9bba-ace290edfddc 10 104479520 104479520 G A SNP SFXN2 NM_178858.4 human genbank 54_36p +1 validated silent c.558 p.A186 0.885 HMMPfam_Mtc HMMPfam_Mtc - no_errors 207 0 0.00 179 165 47.41 4 2 33.33 +LOC100130353 0 genome.wustl.edu 37 11 119246614 119246614 + Missense_Mutation SNP G G A TCGA-AB-2966-03A-01D-0739-09 TCGA-AB-2966-11A-01D-0739-09 G G G A G G Verified Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq 1 dbGAP Illumina HiSeq ea13b395-dade-4e11-bedf-a1f36bccfab7 8b0f12c9-65dd-4a1e-9bba-ace290edfddc 11 118751824 118751824 G A SNP LOC100130353 XM_001719137.1 human genbank 54_36p +1 model missense c.227 p.R76Q 0.001 NULL NULL - no_errors 92 1 1.08 84 58 40.85 NA NA NA +ENSG00000212358 0 genome.wustl.edu 37 12 17224377 17224377 + RNA SNP G G A TCGA-AB-2966-03A-01D-0739-09 TCGA-AB-2966-11A-01D-0739-09 G G G A G G Verified Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq 1 dbGAP Illumina HiSeq ea13b395-dade-4e11-bedf-a1f36bccfab7 8b0f12c9-65dd-4a1e-9bba-ace290edfddc 12 17115644 17115644 G A SNP ENSG00000212358 ENST00000391056 human ensembl 54_36p -1 novel rna NULL NULL 0.001 - - - no_errors 805 0 0.00 464 282 37.80 NA NA NA +KRAS 0 genome.wustl.edu 37 12 25378562 25378562 + Missense_Mutation SNP C C T rs121913527 TCGA-AB-2966-03A-01D-0739-09 TCGA-AB-2966-11A-01D-0739-09 C C C T C C Verified Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq 1 dbGAP Illumina HiSeq ea13b395-dade-4e11-bedf-a1f36bccfab7 8b0f12c9-65dd-4a1e-9bba-ace290edfddc 12 25269829 25269829 C T SNP KRAS NM_033360.3 human genbank 54_36p -1 reviewed missense c.436 p.A146T 1.000 HMMSmart_SM00176,HMMSmart_SM00173,HMMSmart_SM00174,HMMSmart_SM00175,HMMPfam_Ras,superfamily_P-loop containing nucleoside triphosphate hydrolases HMMSmart_SM00176,HMMSmart_SM00173,HMMSmart_SM00174,HMMSmart_SM00175,HMMPfam_Ras,superfamily_P-loop containing nucleoside triphosphate hydrolases - no_errors 197 2 1.01 289 186 39.08 26 10 27.78 +FAM123A 0 genome.wustl.edu 37 13 25743843 25743843 + Missense_Mutation SNP T T G TCGA-AB-2966-03A-01D-0739-09 TCGA-AB-2966-11A-01D-0739-09 T T T G T T Verified Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq 1 dbGAP Illumina HiSeq ea13b395-dade-4e11-bedf-a1f36bccfab7 8b0f12c9-65dd-4a1e-9bba-ace290edfddc 13 24641843 24641843 T G SNP FAM123A NM_152704.2 human genbank 54_36p -1 validated missense c.1915 p.I639L 1.000 NULL HMMPfam_WTX - no_errors 222 2 0.89 250 207 45.30 NA NA NA +IGHE 0 genome.wustl.edu 37 14 106067344 106067344 + Missense_Mutation SNP G G A TCGA-AB-2966-03A-01D-0739-09 TCGA-AB-2966-11A-01D-0739-09 G G G A G G Verified Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq 1 dbGAP Illumina HiSeq ea13b395-dade-4e11-bedf-a1f36bccfab7 8b0f12c9-65dd-4a1e-9bba-ace290edfddc 14 105138389 105138389 G A SNP IGHE ENST00000390541 human ensembl 54_36p -1 known missense c.514 p.P172S 0.106 HMMPfam_C1-set,HMMSmart_SM00407,superfamily_Immunoglobulin PatternScan_IG_MHC,HMMPfam_C1-set,HMMSmart_SM00407,superfamily_Immunoglobulin - no_start_codon:pseudogene:no_stop_codon:bad_bp_length_for_coding_region 157 0 0.00 96 84 45.65 0 0 0.00 +IDH2 0 genome.wustl.edu 37 15 90631934 90631934 + Missense_Mutation SNP C C T rs121913502 TCGA-AB-2966-03A-01D-0739-09 TCGA-AB-2966-11A-01D-0739-09 C C C T C C Verified Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq 1 dbGAP Illumina HiSeq ea13b395-dade-4e11-bedf-a1f36bccfab7 8b0f12c9-65dd-4a1e-9bba-ace290edfddc 15 88432938 88432938 C T SNP IDH2 NM_002168.2 human genbank 54_36p -1 reviewed missense c.419 p.R140Q 1.000 HMMPfam_Iso_dh,superfamily_Isocitrate/Isopropylmalate dehydrogenase-like HMMPfam_Iso_dh,PatternScan_IDH_IMDH,superfamily_Isocitrate/Isopropylmalate dehydrogenase-like - no_errors 121 0 0.00 103 75 42.13 181 149 45.15 +DNAJA3 0 genome.wustl.edu 37 16 4500470 4500470 + Silent SNP G G A TCGA-AB-2966-03A-01D-0739-09 TCGA-AB-2966-11A-01D-0739-09 G G G A G G Verified Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq 1 dbGAP Illumina HiSeq ea13b395-dade-4e11-bedf-a1f36bccfab7 8b0f12c9-65dd-4a1e-9bba-ace290edfddc 16 4440471 4440471 G A SNP DNAJA3 NM_005147.1 human genbank 54_36p +1 validated silent c.1311 p.T437 0.515 NULL HMMPfam_DnaJ_CXXCXGXG,superfamily_HSP_DnaJ_cys-rich,HMMPfam_DnaJ,HMMSmart_DnaJ,superfamily_DnaJ_N,HMMPfam_DnaJ_C,superfamily_HSP40_DnaJ_pep,PatternScan_DNAJ_1 - no_errors 142 4 2.74 103 90 46.63 23 17 42.50 +SMG1 0 genome.wustl.edu 37 16 18852979 18852979 + Missense_Mutation SNP A A T TCGA-AB-2966-03A-01D-0739-09 TCGA-AB-2966-11A-01D-0739-09 A A A T A A Verified Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq 1 dbGAP Illumina HiSeq ea13b395-dade-4e11-bedf-a1f36bccfab7 8b0f12c9-65dd-4a1e-9bba-ace290edfddc 16 18760480 18760480 A T SNP SMG1 NM_015092.4 human genbank 54_36p -1 reviewed missense c.6604 p.S2202T 1.000 HMMPfam_PI3_PI4_kinase,HMMSmart_SM00146,superfamily_Protein kinase-like (PK-like) HMMPfam_HEAT,HMMPfam_PI3_PI4_kinase,HMMSmart_SM00146,HMMPfam_FATC,superfamily_Protein kinase-like (PK-like),superfamily_ARM repeat,PatternScan_PI3_4_KINASE_2 - no_errors 1003 15 1.47 265 281 51.09 38 29 43.28 +AP1M1 0 genome.wustl.edu 37 19 16337261 16337261 + Missense_Mutation SNP C C G TCGA-AB-2966-03A-01D-0739-09 TCGA-AB-2966-11A-01D-0739-09 C C C G C C Verified Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq 1 dbGAP Illumina HiSeq ea13b395-dade-4e11-bedf-a1f36bccfab7 8b0f12c9-65dd-4a1e-9bba-ace290edfddc 19 16198261 16198261 C G SNP AP1M1 NM_032493.1 human genbank 54_36p +1 reviewed missense c.576 p.S192R 0.996 HMMPfam_Adap_comp_sub,superfamily_Second domain of Mu2 adaptin subunit (ap50) of ap2 adaptor HMMPfam_Adap_comp_sub,superfamily_Second domain of Mu2 adaptin subunit (ap50) of ap2 adaptor,superfamily_SNARE-like,PatternScan_CLAT_ADAPTOR_M_1,PatternScan_CLAT_ADAPTOR_M_2 - no_errors 35 0 0.00 77 70 47.62 24 17 41.46 +SIGLEC1 0 genome.wustl.edu 37 20 3684541 3684541 + Missense_Mutation SNP C C T TCGA-AB-2966-03A-01D-0739-09 TCGA-AB-2966-11A-01D-0739-09 C C C T C C Verified Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq 1 dbGAP Illumina HiSeq ea13b395-dade-4e11-bedf-a1f36bccfab7 8b0f12c9-65dd-4a1e-9bba-ace290edfddc 20 3632541 3632541 C T SNP SIGLEC1 NM_023068.3 human genbank 54_36p -1 reviewed missense c.904 p.V302I 0.657 HMMSmart_SM00408,HMMSmart_SM00409,HMMPfam_ig,superfamily_Immunoglobulin HMMSmart_SM00408,HMMSmart_SM00409,HMMPfam_I-set,HMMPfam_V-set,HMMPfam_ig,HMMPfam_C2-set_2,superfamily_Immunoglobulin - no_errors 143 0 0.00 160 96 37.07 NA NA NA +ENSG00000209722 0 genome.wustl.edu 37 21 18803946 18803946 + RNA SNP G G A TCGA-AB-2966-03A-01D-0739-09 TCGA-AB-2966-11A-01D-0739-09 G G G A G G Verified Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq 1 dbGAP Illumina HiSeq ea13b395-dade-4e11-bedf-a1f36bccfab7 8b0f12c9-65dd-4a1e-9bba-ace290edfddc 21 17725817 17725817 G A SNP ENSG00000209722 ENST00000386987 human ensembl 54_36p +1 novel rna NULL NULL 0.000 - - - pseudogene 303 0 0.00 155 142 47.81 NA NA NA +TOP3B 0 genome.wustl.edu 37 22 22328852 22328852 + Missense_Mutation SNP A A G TCGA-AB-2966-03A-01D-0739-09 TCGA-AB-2966-11A-01D-0739-09 A A A G A A Verified Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq 1 dbGAP Illumina HiSeq ea13b395-dade-4e11-bedf-a1f36bccfab7 8b0f12c9-65dd-4a1e-9bba-ace290edfddc 22 20658852 20658852 A G SNP TOP3B NM_003935.3 human genbank 54_36p -1 reviewed missense c.79 p.S27P 1.000 superfamily_Prokaryotic type I DNA topoisomerase,HMMSmart_SM00493,HMMPfam_Toprim PatternScan_TOPOISOMERASE_I_PROK,superfamily_Prokaryotic type I DNA topoisomerase,HMMSmart_SM00436,HMMSmart_SM00437,HMMSmart_SM00493,HMMPfam_Toprim,HMMPfam_Topoisom_bac - no_errors 123 4 3.15 100 75 42.86 7 18 72.00 +RAB36 0 genome.wustl.edu 37 22 23492294 23492294 + Silent SNP C C T TCGA-AB-2966-03A-01D-0739-09 TCGA-AB-2966-11A-01D-0739-09 C C C T C C Verified Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq 1 dbGAP Illumina HiSeq ea13b395-dade-4e11-bedf-a1f36bccfab7 8b0f12c9-65dd-4a1e-9bba-ace290edfddc 22 21822294 21822294 C T SNP RAB36 NM_004914.2 human genbank 54_36p +1 validated silent c.312 p.H104 0.967 NULL HMMSmart_SM00176,HMMSmart_SM00173,HMMSmart_SM00174,HMMSmart_SM00175,HMMSmart_SM00177,HMMPfam_Ras,superfamily_P-loop containing nucleoside triphosphate hydrolases - no_errors 170 2 1.16 139 115 44.75 NA NA NA +DNMT3A 0 genome.wustl.edu 37 2 25467106 25467106 + Frame_Shift_Del DEL C C - TCGA-AB-2966-03A-01D-0739-09 TCGA-AB-2966-11A-01D-0739-09 C C C - C C Verified Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq 1 dbGAP Illumina HiSeq ea13b395-dade-4e11-bedf-a1f36bccfab7 8b0f12c9-65dd-4a1e-9bba-ace290edfddc 2 25320610 25320610 C - DEL DNMT3A NM_022552.3 human genbank 54_36p -1 reviewed frame_shift_del c.1769 p.G590fs 1.000 superfamily_FYVE/PHD zinc finger HMMPfam_PWWP,HMMSmart_SM00293,HMMPfam_DNA_methylase,superfamily_FYVE/PHD zinc finger,PatternScan_C5_MTASE_1,superfamily_S-adenosyl-L-methionine-dependent methyltransferases,superfamily_Tudor/PWWP/MBT - no_errors 0 0 0.00 0 0 0.00 0 2 100.00 +NRAS 0 genome.wustl.edu 37 1 115258744 115258744 + Missense_Mutation SNP C C T rs121434596 TCGA-AB-2967-03A-01D-0739-09 TCGA-AB-2967-11A-01D-0739-09 C C C T C C Verified Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq 1 dbGAP Illumina HiSeq 60a69167-464f-4df2-a6f9-ed402ed58f76 b5babadf-7b10-45fc-8c93-5f68a08b07ed 1 115060267 115060267 C T SNP NRAS NM_002524.3 human genbank 54_36p -1 reviewed missense c.38 p.G13D 1.000 HMMSmart_SM00173,HMMSmart_SM00174,HMMSmart_SM00175,HMMPfam_Ras,superfamily_P-loop containing nucleoside triphosphate hydrolases HMMSmart_SM00173,HMMSmart_SM00174,HMMSmart_SM00175,HMMPfam_Ras,superfamily_P-loop containing nucleoside triphosphate hydrolases - no_errors 1990 185 8.49 643 549 45.98 22 3 12.00 +DNMT3A 0 genome.wustl.edu 37 2 25468163 25468163 + Nonsense_Mutation SNP C C A TCGA-AB-2967-03A-01D-0739-09 TCGA-AB-2967-11A-01D-0739-09 C C C A C C Verified Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq 1 dbGAP Illumina HiSeq 60a69167-464f-4df2-a6f9-ed402ed58f76 b5babadf-7b10-45fc-8c93-5f68a08b07ed 2 25321667 25321667 C A SNP DNMT3A NM_022552.3 human genbank 54_36p -1 reviewed nonsense c.1513 p.E505* 1.000 NULL HMMPfam_PWWP,HMMSmart_SM00293,HMMPfam_DNA_methylase,superfamily_FYVE/PHD zinc finger,PatternScan_C5_MTASE_1,superfamily_S-adenosyl-L-methionine-dependent methyltransferases,superfamily_Tudor/PWWP/MBT - no_errors 664 47 6.57 113 135 54.22 8 7 46.67 +LOC100128342 0 genome.wustl.edu 37 3 15504577 15504577 + Silent SNP C C A TCGA-AB-2967-03A-01D-0739-09 TCGA-AB-2967-11A-01D-0739-09 C C C A C C Verified Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq 1 dbGAP Illumina HiSeq 60a69167-464f-4df2-a6f9-ed402ed58f76 b5babadf-7b10-45fc-8c93-5f68a08b07ed 3 15479581 15479581 C A SNP LOC100128342 XM_001721613.1 human genbank 54_36p -1 model silent c.75 p.V25 0.000 NULL NULL - no_errors 1812 171 8.59 514 436 45.80 2 0 0.00 +LRRC2 0 genome.wustl.edu 37 3 46574399 46574399 + Missense_Mutation SNP C C T TCGA-AB-2967-03A-01D-0739-09 TCGA-AB-2967-11A-01D-0739-09 C C C T C C Verified Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq 1 dbGAP Illumina HiSeq 60a69167-464f-4df2-a6f9-ed402ed58f76 b5babadf-7b10-45fc-8c93-5f68a08b07ed 3 46549403 46549403 C T SNP LRRC2 NM_024512.3 human genbank 54_36p -1 validated missense c.491 p.G164D 0.998 superfamily_SSF52058 HMMPfam_LRR_1,HMMSmart_LRR_TYP,superfamily_SSF52058 - no_errors 1882 143 7.05 327 301 47.93 NA NA NA +OR8A1 0 genome.wustl.edu 37 11 124440298 124440298 + Missense_Mutation SNP G G A TCGA-AB-2967-03A-01D-0739-09 TCGA-AB-2967-11A-01D-0739-09 G G G A G G Verified Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq 1 dbGAP Illumina HiSeq 60a69167-464f-4df2-a6f9-ed402ed58f76 b5babadf-7b10-45fc-8c93-5f68a08b07ed 11 123945508 123945508 G A SNP OR8A1 NM_001005194.1 human genbank 54_36p +1 provisional missense c.334 p.A112T 0.008 HMMPfam_7tm_1,superfamily_SSF81321 HMMPfam_7tm_1,PatternScan_G_PROTEIN_RECEP_F1_1,superfamily_SSF81321 - no_errors 2444 217 8.14 844 893 51.38 NA NA NA +GRIP1 0 genome.wustl.edu 37 12 66838485 66838485 + Silent SNP G G A TCGA-AB-2967-03A-01D-0739-09 TCGA-AB-2967-11A-01D-0739-09 G G G A G G Verified Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq 1 dbGAP Illumina HiSeq 60a69167-464f-4df2-a6f9-ed402ed58f76 b5babadf-7b10-45fc-8c93-5f68a08b07ed 12 65124752 65124752 G A SNP GRIP1 NM_021150.2 human genbank 54_36p -1 validated silent c.1410 p.D470 1.000 HMMPfam_PDZ,HMMSmart_SM00228,superfamily_PDZ domain-like HMMPfam_PDZ,HMMSmart_SM00228,superfamily_PDZ domain-like - no_errors 1289 155 10.72 554 587 51.40 NA NA NA +FAM57B 0 genome.wustl.edu 37 16 30037136 30037136 + Nonsense_Mutation SNP G G A TCGA-AB-2967-03A-01D-0739-09 TCGA-AB-2967-11A-01D-0739-09 G G G A G G Verified Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq 1 dbGAP Illumina HiSeq 60a69167-464f-4df2-a6f9-ed402ed58f76 b5babadf-7b10-45fc-8c93-5f68a08b07ed 16 29944637 29944637 G A SNP FAM57B NM_031478.4 human genbank 54_36p -1 validated nonsense c.451 p.R151* 1.000 HMMPfam_TRAM_LAG1_CLN8,HMMSmart_SM00724 HMMPfam_TRAM_LAG1_CLN8,HMMSmart_SM00724 - no_errors 467 51 9.81 89 77 45.83 0 1 100.00 +HYDIN 0 genome.wustl.edu 37 16 70874027 70874027 + Missense_Mutation SNP G G A TCGA-AB-2967-03A-01D-0739-09 TCGA-AB-2967-11A-01D-0739-09 G G G A G G Verified Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq 1 dbGAP Illumina HiSeq 60a69167-464f-4df2-a6f9-ed402ed58f76 b5babadf-7b10-45fc-8c93-5f68a08b07ed 16 69431528 69431528 G A SNP HYDIN NM_032821.2 human genbank 54_36p -1 validated missense c.12980 p.A4327V 1.000 superfamily_PapD-like superfamily_PapD-like,superfamily_P-loop containing nucleoside triphosphate hydrolases - no_errors 2183 85 3.74 1603 408 20.28 NA NA NA +SEMA4A 0 genome.wustl.edu 37 1 156126203 156126204 + Splice_Site DEL AG AG - TCGA-AB-2967-03A-01D-0739-09 TCGA-AB-2967-11A-01D-0739-09 AG AG AG - AG AG Verified Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq 1 dbGAP Illumina HiSeq 60a69167-464f-4df2-a6f9-ed402ed58f76 b5babadf-7b10-45fc-8c93-5f68a08b07ed 1 154392827 154392828 AG - DEL SEMA4A NM_022367.2 human genbank 54_36p +1 provisional splice_site_del c.140-2_140-1 e2-1 0.852:0.849 - - - no_errors 0 160 7.02 0 240 43.40 0 2 12.50 +NPM1 0 genome.wustl.edu 37 5 170837547 170837548 + Frame_Shift_Ins INS - - TCTG TCGA-AB-2967-03A-01D-0739-09 TCGA-AB-2967-11A-01D-0739-09 - - - TCTG - - Verified Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq 1 dbGAP Illumina HiSeq 60a69167-464f-4df2-a6f9-ed402ed58f76 b5babadf-7b10-45fc-8c93-5f68a08b07ed 5 170770152 170770153 - TCTG INS NPM1 NM_002520.1 human genbank 54_36p +1 validated frame_shift_ins c.863_864 p.W288fs 1.000:1.000 NULL HMMPfam_Nucleoplasmin,superfamily_Nucleoplasmin-like core domain - no_errors NA NA NA NA NA NA NA NA NA +PHIP 0 genome.wustl.edu 37 6 79664636 79664637 + Frame_Shift_Ins INS - - T TCGA-AB-2967-03A-01D-0739-09 TCGA-AB-2967-11A-01D-0739-09 - - - T - - Verified Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq 1 dbGAP Illumina HiSeq 60a69167-464f-4df2-a6f9-ed402ed58f76 b5babadf-7b10-45fc-8c93-5f68a08b07ed 6 79721355 79721356 - T INS PHIP NM_017934.5 human genbank 54_36p -1 validated frame_shift_ins c.3948_3947 p.Y1316fs 0.845:0.914 superfamily_Bromodomain HMMPfam_Bromodomain,HMMSmart_SM00297,superfamily_Bromodomain,HMMSmart_SM00320,superfamily_YVTN repeat-like/Quinoprotein amine dehydrogenase,PatternScan_BROMODOMAIN_1,PatternScan_WD_REPEATS_1,HMMPfam_WD40 - no_errors 1645 114 6.48 578 459 44.26 16 5 23.81 +RAD21 0 genome.wustl.edu 37 8 117868492 117868493 + Frame_Shift_Ins INS - - G TCGA-AB-2967-03A-01D-0739-09 TCGA-AB-2967-11A-01D-0739-09 - - - G - - Verified Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq 1 dbGAP Illumina HiSeq 60a69167-464f-4df2-a6f9-ed402ed58f76 b5babadf-7b10-45fc-8c93-5f68a08b07ed 8 117937673 117937674 - G INS RAD21 NM_006265.2 human genbank 54_36p -1 reviewed frame_shift_ins c.850_849 p.V283fs 1.000:0.980 NULL HMMPfam_Rad21_Rec8,HMMPfam_Rad21_Rec8_N - no_errors 676 53 7.27 237 147 38.28 0 1 100.00 +NRAS 0 genome.wustl.edu 37 1 115256528 115256528 + Missense_Mutation SNP T T A rs121913255 TCGA-AB-2968-03A-01D-0739-09 TCGA-AB-2968-11A-01D-0739-09 T T T A T T Verified Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq 1 dbGAP Illumina HiSeq 85d9ba67-6bb0-440d-8d9f-1c9582697ba6 2f3495f2-e136-437c-8c9a-a2e01db92a3e 1 115058051 115058051 T A SNP NRAS NM_002524.3 human genbank 54_36p -1 reviewed missense c.183 p.Q61H 1.000 HMMSmart_SM00173,HMMSmart_SM00174,HMMSmart_SM00175,HMMPfam_Ras,superfamily_P-loop containing nucleoside triphosphate hydrolases HMMSmart_SM00173,HMMSmart_SM00174,HMMSmart_SM00175,HMMPfam_Ras,superfamily_P-loop containing nucleoside triphosphate hydrolases - no_errors 474 3 0.63 336 99 22.60 NA NA NA +DNMT3A 0 genome.wustl.edu 37 2 25463271 25463271 + Missense_Mutation SNP G G A TCGA-AB-2968-03A-01D-0739-09 TCGA-AB-2968-11A-01D-0739-09 G G G A G G Verified Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq 1 dbGAP Illumina HiSeq 85d9ba67-6bb0-440d-8d9f-1c9582697ba6 2f3495f2-e136-437c-8c9a-a2e01db92a3e 2 25316775 25316775 G A SNP DNMT3A NM_022552.3 human genbank 54_36p -1 reviewed missense c.2222 p.A741V 1.000 HMMPfam_DNA_methylase,superfamily_S-adenosyl-L-methionine-dependent methyltransferases HMMPfam_PWWP,HMMSmart_SM00293,HMMPfam_DNA_methylase,superfamily_FYVE/PHD zinc finger,PatternScan_C5_MTASE_1,superfamily_S-adenosyl-L-methionine-dependent methyltransferases,superfamily_Tudor/PWWP/MBT - no_errors 212 1 0.47 143 132 47.83 NA NA NA +DNMT3A 0 genome.wustl.edu 37 2 25469029 25469029 + Nonsense_Mutation SNP C C A TCGA-AB-2968-03A-01D-0739-09 TCGA-AB-2968-11A-01D-0739-09 C C C A C C Verified Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq 1 dbGAP Illumina HiSeq 85d9ba67-6bb0-440d-8d9f-1c9582697ba6 2f3495f2-e136-437c-8c9a-a2e01db92a3e 2 25322533 25322533 C A SNP DNMT3A NM_022552.3 human genbank 54_36p -1 reviewed nonsense c.1429 p.E477* 1.000 NULL HMMPfam_PWWP,HMMSmart_SM00293,HMMPfam_DNA_methylase,superfamily_FYVE/PHD zinc finger,PatternScan_C5_MTASE_1,superfamily_S-adenosyl-L-methionine-dependent methyltransferases,superfamily_Tudor/PWWP/MBT - no_errors 179 1 0.56 156 104 40.00 NA NA NA +DDX60 0 genome.wustl.edu 37 4 169141819 169141819 + Missense_Mutation SNP T T C TCGA-AB-2968-03A-01D-0739-09 TCGA-AB-2968-11A-01D-0739-09 T T T C T T Verified Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq 1 dbGAP Illumina HiSeq 85d9ba67-6bb0-440d-8d9f-1c9582697ba6 2f3495f2-e136-437c-8c9a-a2e01db92a3e 4 169378394 169378394 T C SNP DDX60 NM_017631.5 human genbank 54_36p -1 validated missense c.5026 p.I1676V 0.362 NULL HMMPfam_Helicase_C,HMMSmart_SM00490,HMMPfam_DEAD,HMMSmart_SM00487,superfamily_P-loop containing nucleoside triphosphate hydrolases - no_errors 466 8 1.68 113 85 42.93 NA NA NA +NIPBL 0 genome.wustl.edu 37 5 37064105 37064105 + Missense_Mutation SNP A A G TCGA-AB-2968-03A-01D-0739-09 TCGA-AB-2968-11A-01D-0739-09 A A A G A A Verified Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq 1 dbGAP Illumina HiSeq 85d9ba67-6bb0-440d-8d9f-1c9582697ba6 2f3495f2-e136-437c-8c9a-a2e01db92a3e 5 37099862 37099862 A G SNP NIPBL NM_015384.4 human genbank 54_36p +1 reviewed missense c.8074 p.I2692V 1.000 NULL superfamily_ARM-type_fold - no_errors 312 7 2.19 197 149 43.06 NA NA NA +EXOC2 0 genome.wustl.edu 37 6 592581 592581 + Silent SNP C C G TCGA-AB-2968-03A-01D-0739-09 TCGA-AB-2968-11A-01D-0739-09 C C C G C C Verified Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq 1 dbGAP Illumina HiSeq 85d9ba67-6bb0-440d-8d9f-1c9582697ba6 2f3495f2-e136-437c-8c9a-a2e01db92a3e 6 537581 537581 C G SNP EXOC2 NM_018303.4 human genbank 54_36p -1 reviewed silent c.1080 p.L360 1.000 NULL HMMPfam_TIG,superfamily_Ig_E-set - no_errors 348 2 0.57 180 127 41.37 NA NA NA +FBXL18 0 genome.wustl.edu 37 7 5540409 5540409 + Missense_Mutation SNP G G A TCGA-AB-2968-03A-01D-0739-09 TCGA-AB-2968-11A-01D-0739-09 G G G A G G Verified Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq 1 dbGAP Illumina HiSeq 85d9ba67-6bb0-440d-8d9f-1c9582697ba6 2f3495f2-e136-437c-8c9a-a2e01db92a3e 7 5506935 5506935 G A SNP FBXL18 ENST00000297035 human ensembl 54_36p -1 known missense c.166 p.R56C 0.174 NULL NULL - no_errors 130 2 1.52 100 73 42.20 NA NA NA +LOC100133915 0 genome.wustl.edu 37 8 1604152 1604152 + Missense_Mutation SNP C C G TCGA-AB-2968-03A-01D-0739-09 TCGA-AB-2968-11A-01D-0739-09 C C C G C C Verified Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq 1 dbGAP Illumina HiSeq 85d9ba67-6bb0-440d-8d9f-1c9582697ba6 2f3495f2-e136-437c-8c9a-a2e01db92a3e 8 1591559 1591559 C G SNP LOC100133915 XM_001715423.1 human genbank 54_36p -1 model missense c.1367 p.C456S 0.000 NULL NULL - no_start_codon:pseudogene:no_stop_codon 309 4 1.28 196 173 46.51 NA NA NA +COMMD5 0 genome.wustl.edu 37 8 146076709 146076709 + Silent SNP C C G TCGA-AB-2968-03A-01D-0739-09 TCGA-AB-2968-11A-01D-0739-09 C C C G C C Verified Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq 1 dbGAP Illumina HiSeq 85d9ba67-6bb0-440d-8d9f-1c9582697ba6 2f3495f2-e136-437c-8c9a-a2e01db92a3e 8 146047513 146047513 C G SNP COMMD5 NM_001081003.1 human genbank 54_36p -1 validated silent c.15 p.G5 0.745 NULL HMMPfam_HCaRG - no_errors 169 6 3.43 103 72 41.14 NA NA NA +PTCH1 0 genome.wustl.edu 37 9 98229498 98229498 + Silent SNP G G A TCGA-AB-2968-03A-01D-0739-09 TCGA-AB-2968-11A-01D-0739-09 G G G A G G Verified Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq 1 dbGAP Illumina HiSeq 85d9ba67-6bb0-440d-8d9f-1c9582697ba6 2f3495f2-e136-437c-8c9a-a2e01db92a3e 9 97269319 97269319 G A SNP PTCH1 NM_000264.3 human genbank 54_36p -1 reviewed silent c.2460 p.Y820 0.971 HMMPfam_Patched HMMPfam_Patched,superfamily_SSF82866 - no_errors 445 5 1.11 171 83 32.68 NA NA NA +LOC387820 0 genome.wustl.edu 37 11 127811108 127811108 + RNA SNP G G A TCGA-AB-2968-03A-01D-0739-09 TCGA-AB-2968-11A-01D-0739-09 G G G A G G Verified Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq 1 dbGAP Illumina HiSeq 85d9ba67-6bb0-440d-8d9f-1c9582697ba6 2f3495f2-e136-437c-8c9a-a2e01db92a3e 11 127316318 127316318 G A SNP LOC387820 XR_017453.2 human genbank 54_36p -1 model rna NULL NULL 0.997 - - - pseudogene 286 4 1.38 140 50 26.32 NA NA NA +PLCZ1 0 genome.wustl.edu 37 12 18865835 18865835 + Missense_Mutation SNP G G A TCGA-AB-2968-03A-01D-0739-09 TCGA-AB-2968-11A-01D-0739-09 G G G A G G Verified Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq 1 dbGAP Illumina HiSeq 85d9ba67-6bb0-440d-8d9f-1c9582697ba6 2f3495f2-e136-437c-8c9a-a2e01db92a3e 12 18757102 18757102 G A SNP PLCZ1 NM_033123.2 human genbank 54_36p -1 provisional missense c.655 p.L219F 0.998 HMMPfam_PI-PLC-X,HMMSmart_SM00148,superfamily_PLC-like phosphodiesterases HMMPfam_C2,HMMSmart_SM00239,HMMPfam_PI-PLC-X,HMMSmart_SM00148,HMMPfam_PI-PLC-Y,HMMSmart_SM00149,superfamily_C2 domain (Calcium/lipid-binding domain CaLB),HMMPfam_efhand_like,superfamily_PLC-like phosphodiesterases,superfamily_EF-hand - no_errors 744 9 1.20 296 256 46.38 NA NA NA +EIF4B 0 genome.wustl.edu 37 12 53413723 53413723 + Silent SNP C C G TCGA-AB-2968-03A-01D-0739-09 TCGA-AB-2968-11A-01D-0739-09 C C C G C C Verified Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq 1 dbGAP Illumina HiSeq 85d9ba67-6bb0-440d-8d9f-1c9582697ba6 2f3495f2-e136-437c-8c9a-a2e01db92a3e 12 51699990 51699990 C G SNP EIF4B NM_001417.4 human genbank 54_36p +1 validated silent c.390 p.P130 1.000 HMMPfam_RRM_1,HMMSmart_RRM,superfamily_SSF54928 HMMPfam_RRM_1,HMMSmart_RRM,superfamily_SSF54928 - no_errors 337 6 1.75 127 86 40.38 NA NA NA +KSR2 0 genome.wustl.edu 37 12 117922266 117922266 + Missense_Mutation SNP G G A TCGA-AB-2968-03A-01D-0739-09 TCGA-AB-2968-11A-01D-0739-09 G G G A G G Verified Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq 1 dbGAP Illumina HiSeq 85d9ba67-6bb0-440d-8d9f-1c9582697ba6 2f3495f2-e136-437c-8c9a-a2e01db92a3e 12 116406649 116406649 G A SNP KSR2 NM_173598.4 human genbank 54_36p -1 validated missense c.2042 p.T681M 1.000 HMMSmart_SM00219,HMMSmart_SM00220,superfamily_Protein kinase-like (PK-like),HMMPfam_Pkinase HMMSmart_SM00219,HMMPfam_C1_1,HMMSmart_SM00109,PatternScan_ZF_DAG_PE_1,HMMSmart_SM00220,PatternScan_PROTEIN_KINASE_ST,superfamily_Protein kinase-like (PK-like),HMMPfam_Pkinase,superfamily_Cysteine-rich domain - no_errors 462 10 2.12 240 190 44.08 NA NA NA +MTUS2 0 genome.wustl.edu 37 13 29855919 29855919 + Missense_Mutation SNP G G A TCGA-AB-2968-03A-01D-0739-09 TCGA-AB-2968-11A-01D-0739-09 G G G A G G Verified Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq 1 dbGAP Illumina HiSeq 85d9ba67-6bb0-440d-8d9f-1c9582697ba6 2f3495f2-e136-437c-8c9a-a2e01db92a3e 13 28753919 28753919 G A SNP KIAA0774 NM_001033602.2 human genbank 54_36p +1 validated missense c.2753 p.R918Q 0.496 NULL NULL - no_errors 259 2 0.77 247 185 42.82 NA NA NA +BPTF 0 genome.wustl.edu 37 17 65907983 65907983 + Missense_Mutation SNP T T G TCGA-AB-2968-03A-01D-0739-09 TCGA-AB-2968-11A-01D-0739-09 T T T G T T Verified Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq 1 dbGAP Illumina HiSeq 85d9ba67-6bb0-440d-8d9f-1c9582697ba6 2f3495f2-e136-437c-8c9a-a2e01db92a3e 17 63338445 63338445 T G SNP BPTF NM_182641.6 human genbank 54_36p +1 reviewed missense c.3983 p.V1328G 0.020 NULL HMMPfam_Bromodomain,HMMSmart_BROMO,superfamily_Bromodomain,HMMSmart_PHD,HMMPfam_DDT,superfamily_FYVE_PHD_ZnF,HMMPfam_FYDLN_acid,PatternScan_EGF_2,PatternScan_BROMODOMAIN_1,HMMSmart_DDT,PatternScan_ZF_PHD_1,HMMPfam_PHD - no_errors 407 5 1.21 236 145 38.06 NA NA NA +PRODH2 0 genome.wustl.edu 37 19 36303651 36303651 + Nonsense_Mutation SNP C C T TCGA-AB-2968-03A-01D-0739-09 TCGA-AB-2968-11A-01D-0739-09 C C C T C C Verified Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq 1 dbGAP Illumina HiSeq 85d9ba67-6bb0-440d-8d9f-1c9582697ba6 2f3495f2-e136-437c-8c9a-a2e01db92a3e 19 40995491 40995491 C T SNP PRODH2 NM_021232.1 human genbank 54_36p -1 reviewed nonsense c.285 p.W95* 0.998 NULL HMMPfam_Pro_dh,superfamily_SSF51730 - no_errors 537 8 1.47 181 148 44.98 NA NA NA +U2AF1 0 genome.wustl.edu 37 21 44524456 44524456 + Missense_Mutation SNP G G A TCGA-AB-2968-03A-01D-0739-09 TCGA-AB-2968-11A-01D-0739-09 G G G A G G Verified Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq 1 dbGAP Illumina HiSeq 85d9ba67-6bb0-440d-8d9f-1c9582697ba6 2f3495f2-e136-437c-8c9a-a2e01db92a3e 21 43397525 43397525 G A SNP U2AF1 NM_001025203.1 human genbank 54_36p -1 reviewed missense c.101 p.S34F 1.000 HMMPfam_zf-CCCH,HMMSmart_ZnF_C3H1 HMMPfam_RRM_1,HMMSmart_RRM,HMMPfam_zf-CCCH,HMMSmart_ZnF_C3H1,superfamily_SSF54928 - no_errors 252 10 3.82 77 62 44.60 NA NA NA +BCOR 0 genome.wustl.edu 37 X 39932084 39932085 + Frame_Shift_Ins INS - - G TCGA-AB-2968-03A-01D-0739-09 TCGA-AB-2968-11A-01D-0739-09 - - - G - - Verified Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq 1 dbGAP Illumina HiSeq 85d9ba67-6bb0-440d-8d9f-1c9582697ba6 2f3495f2-e136-437c-8c9a-a2e01db92a3e X 39817028 39817029 - G INS BCOR NM_017745.1 human genbank 54_36p -1 reviewed frame_shift_ins c.2515_2514 p.K838fs 0.579:0.203 NULL HMMPfam_Ank,HMMSmart_ANK,superfamily_ANK - no_errors 89 2 2.20 42 69 62.16 NA NA NA +CCNG2 0 genome.wustl.edu 37 4 78087044 78087044 + Frame_Shift_Del DEL C C - TCGA-AB-2968-03A-01D-0739-09 TCGA-AB-2968-11A-01D-0739-09 C C C - C C Verified Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq 1 dbGAP Illumina HiSeq 85d9ba67-6bb0-440d-8d9f-1c9582697ba6 2f3495f2-e136-437c-8c9a-a2e01db92a3e 4 78306068 78306068 C - DEL CCNG2 NM_004354.2 human genbank 54_36p +1 reviewed frame_shift_del c.1002 p.F334fs 0.971 NULL HMMSmart_SM00385,HMMPfam_Cyclin_N,superfamily_Cyclin-like - no_errors 551 10 1.78 254 184 40.44 NA NA NA +DNMT3A 0 genome.wustl.edu 37 2 25457242 25457242 + Missense_Mutation SNP C C T TCGA-AB-2969-03A-01D-0739-09 TCGA-AB-2969-11A-01D-0739-09 C C C T C C Verified Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq 1 dbGAP Illumina HiSeq c2942501-aebc-4dc5-b31d-52d624f2f163 9f76ea23-0923-4b22-99ba-791ee8931003 2 25310746 25310746 C T SNP DNMT3A NM_022552.3 human genbank 54_36p -1 reviewed missense c.2645 p.R882H 1.000 superfamily_S-adenosyl-L-methionine-dependent methyltransferases HMMPfam_PWWP,HMMSmart_SM00293,HMMPfam_DNA_methylase,superfamily_FYVE/PHD zinc finger,PatternScan_C5_MTASE_1,superfamily_S-adenosyl-L-methionine-dependent methyltransferases,superfamily_Tudor/PWWP/MBT - no_errors 1018 175 14.67 459 387 45.64 6 16 72.73 +IDH1 0 genome.wustl.edu 37 2 209113112 209113112 + Missense_Mutation SNP C C T rs121913500 TCGA-AB-2969-03A-01D-0739-09 TCGA-AB-2969-11A-01D-0739-09 C C C T C C Verified Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq 1 dbGAP Illumina HiSeq c2942501-aebc-4dc5-b31d-52d624f2f163 9f76ea23-0923-4b22-99ba-791ee8931003 2 208821357 208821357 C T SNP IDH1 NM_005896.2 human genbank 54_36p -1 reviewed missense c.395 p.R132H 1.000 HMMPfam_Iso_dh,superfamily_Isocitrate/Isopropylmalate dehydrogenase-like HMMPfam_Iso_dh,PatternScan_IDH_IMDH,superfamily_Isocitrate/Isopropylmalate dehydrogenase-like - no_errors 811 129 13.71 865 412 32.24 142 90 38.63 +FOXP1 0 genome.wustl.edu 37 3 71026793 71026793 + Splice_Site SNP C C G TCGA-AB-2969-03A-01D-0739-09 TCGA-AB-2969-11A-01D-0739-09 C C C G C C Verified Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq 1 dbGAP Illumina HiSeq c2942501-aebc-4dc5-b31d-52d624f2f163 9f76ea23-0923-4b22-99ba-791ee8931003 3 71109483 71109483 C G SNP FOXP1 NM_032682.1 human genbank 54_36p -1 reviewed splice_site c.1428+1 e11+1 1.000 - - - no_errors 671 30 4.27 973 157 13.88 20 0 0.00 +SOHLH1 0 genome.wustl.edu 37 9 138586271 138586271 + Missense_Mutation SNP G G A TCGA-AB-2969-03A-01D-0739-09 TCGA-AB-2969-11A-01D-0739-09 G G G A G G Verified Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq 1 dbGAP Illumina HiSeq c2942501-aebc-4dc5-b31d-52d624f2f163 9f76ea23-0923-4b22-99ba-791ee8931003 9 137726092 137726092 G A SNP SOHLH1 NM_001101677.2 human genbank 54_36p -1 validated missense c.908 p.T303M 0.000 NULL HMMPfam_HLH,HMMSmart_SM00353,superfamily_HLH helix-loop-helix DNA-binding domain - no_errors 451 7 1.52838427947598 91 5 5.20833333333333 0 0 0.00 +KCNT1 0 genome.wustl.edu 37 9 138676642 138676642 + Silent SNP G G A TCGA-AB-2969-03A-01D-0739-09 TCGA-AB-2969-11A-01D-0739-09 G G G A G G Verified Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq 1 dbGAP Illumina HiSeq c2942501-aebc-4dc5-b31d-52d624f2f163 9f76ea23-0923-4b22-99ba-791ee8931003 9 137816463 137816463 G A SNP KCNT1 NM_020822.1 human genbank 54_36p +1 provisional silent c.3063 p.T1021 0.991 NULL HMMPfam_BK_channel_a,HMMPfam_Ion_trans_2,superfamily_NAD(P)-bd,superfamily_SSF81324 - no_errors 55 0 0 224 15 6.27615062761506 0 0 0.00 +LOC374443 0 genome.wustl.edu 37 12 9810834 9810834 + RNA SNP A A G TCGA-AB-2969-03A-01D-0739-09 TCGA-AB-2969-11A-01D-0739-09 A A A G A A Verified Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq 1 dbGAP Illumina HiSeq c2942501-aebc-4dc5-b31d-52d624f2f163 9f76ea23-0923-4b22-99ba-791ee8931003 12 9702101 9702101 A G SNP LOC374443 NR_002814.1 human genbank 54_36p +1 provisional rna NULL NULL 0.000 - - - pseudogene 450 0 0 663 1 0.150602409638554 20 0 0.00 +GLI1 0 genome.wustl.edu 37 12 57858524 57858524 + Missense_Mutation SNP C C A TCGA-AB-2969-03A-01D-0739-09 TCGA-AB-2969-11A-01D-0739-09 C C C A C C Verified Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq 1 dbGAP Illumina HiSeq c2942501-aebc-4dc5-b31d-52d624f2f163 9f76ea23-0923-4b22-99ba-791ee8931003 12 56144791 56144791 C A SNP GLI1 NM_005269.2 human genbank 54_36p +1 reviewed missense c.262 p.L88M 1.000 NULL HMMPfam_zf-C2H2,PatternScan_ZINC_FINGER_C2H2_1,HMMSmart_ZnF_C2H2,superfamily_SSF57667 - no_errors 1538 337 17.95 656 591 47.39 1 0 0.00 +FLT3 0 genome.wustl.edu 37 13 28592642 28592642 + Missense_Mutation SNP C C G rs121913488 TCGA-AB-2969-03A-01D-0739-09 TCGA-AB-2969-11A-01D-0739-09 C C C G C C Verified Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq 1 dbGAP Illumina HiSeq c2942501-aebc-4dc5-b31d-52d624f2f163 9f76ea23-0923-4b22-99ba-791ee8931003 13 27490642 27490642 C G SNP FLT3 NM_004119.2 human genbank 54_36p -1 reviewed missense c.2503 p.D835H 1.000 HMMPfam_Pkinase_Tyr,HMMSmart_TyrKc,superfamily_Kinase_like HMMPfam_Pkinase_Tyr,HMMSmart_TyrKc,PatternScan_RECEPTOR_TYR_KIN_III,PatternScan_PROTEIN_KINASE_TYR,superfamily_Kinase_like,HMMPfam_ig,PatternScan_PROTEIN_KINASE_ATP,superfamily_SSF48726 - no_errors 1256 159 11.22 866 429 33.08 222 95 29.78 +ZNF276 0 genome.wustl.edu 37 16 89793742 89793742 + Silent SNP C C T TCGA-AB-2969-03A-01D-0739-09 TCGA-AB-2969-11A-01D-0739-09 C C C T C C Verified Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq 1 dbGAP Illumina HiSeq c2942501-aebc-4dc5-b31d-52d624f2f163 9f76ea23-0923-4b22-99ba-791ee8931003 16 88321243 88321243 C T SNP ZNF276 NM_152287.1 human genbank 54_36p +1 validated silent c.837 p.D279 1.000 NULL HMMPfam_zf-C2H2,PatternScan_ZINC_FINGER_C2H2_1,HMMPfam_zf-AD,HMMSmart_SM00355,superfamily_C2H2 and C2HC zinc fingers - no_errors 230 0 0 520 58 10.0346020761246 26 0 0.00 +ELANE 0 genome.wustl.edu 37 19 855779 855779 + Missense_Mutation SNP G G T TCGA-AB-2969-03A-01D-0739-09 TCGA-AB-2969-11A-01D-0739-09 G G G T G G Verified Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq 1 dbGAP Illumina HiSeq c2942501-aebc-4dc5-b31d-52d624f2f163 9f76ea23-0923-4b22-99ba-791ee8931003 19 806779 806779 G T SNP ELA2 NM_001972.2 human genbank 54_36p +1 reviewed missense c.582 p.Q194H 0.937 HMMPfam_Trypsin,HMMSmart_Tryp_SPc,superfamily_Pept_Ser_Cys HMMPfam_Trypsin,HMMSmart_Tryp_SPc,superfamily_Pept_Ser_Cys,PatternScan_TRYPSIN_HIS,PatternScan_TRYPSIN_SER - no_errors 363 91 20.0440528634361 15 23 60.5263157894737 88 54 37.76 +NPM1 0 genome.wustl.edu 37 5 170837543 170837544 + Frame_Shift_Ins INS - - TCTG TCGA-AB-2969-03A-01D-0739-09 TCGA-AB-2969-11A-01D-0739-09 - - - TCTG - - Verified Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq 1 dbGAP Illumina HiSeq c2942501-aebc-4dc5-b31d-52d624f2f163 9f76ea23-0923-4b22-99ba-791ee8931003 5 170770148 170770149 - TCTG INS NPM1 NM_002520.1 human genbank 54_36p +1 validated frame_shift_ins c.859_860 p.W288fs 1.000:1.000 NULL HMMPfam_Nucleoplasmin,superfamily_Nucleoplasmin-like core domain - no_errors 169 34 16.7487684729064 87 70 44.5859872611465 NA NA NA +LRRN2 0 genome.wustl.edu 37 1 204588352 204588352 + Silent SNP G G A TCGA-AB-2970-03A-01D-0739-09 TCGA-AB-2970-11A-01D-0739-09 G G G A G G Verified Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq 1 dbGAP Illumina HiSeq 8ace649f-6c0a-47a4-9ebb-081fd6f8a025 d0983a5d-cb05-4b25-8053-631d52627b28 1 202854975 202854975 G A SNP LRRN2 NM_006338.2 human genbank 54_36p -1 reviewed silent c.769 p.L257 0.995 HMMSmart_SM00369,HMMSmart_SM00365,superfamily_L domain-like HMMPfam_LRRCT,HMMSmart_SM00082,HMMPfam_LRR_1,HMMSmart_SM00369,HMMSmart_SM00408,HMMSmart_SM00409,HMMPfam_I-set,HMMSmart_SM00365,superfamily_Immunoglobulin,superfamily_L domain-like - no_errors 481 36 6.96324951644101 324 258 44.3298969072165 0 8 100.00 +ENSG00000201010 0 genome.wustl.edu 37 2 48444856 48444856 + RNA SNP A A G TCGA-AB-2970-03A-01D-0739-09 TCGA-AB-2970-11A-01D-0739-09 A A A G A A Verified Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq 1 dbGAP Illumina HiSeq 8ace649f-6c0a-47a4-9ebb-081fd6f8a025 d0983a5d-cb05-4b25-8053-631d52627b28 2 48298360 48298360 A G SNP ENSG00000201010 ENST00000364140 human ensembl 54_36p +1 novel rna NULL NULL 1.000 - - - no_errors 1276 202 13.66 560 462 45.21 NA NA NA +SNORD13 0 genome.wustl.edu 37 3 47292039 47292039 + RNA SNP G G A TCGA-AB-2970-03A-01D-0739-09 TCGA-AB-2970-11A-01D-0739-09 G G G A G G Verified Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq 1 dbGAP Illumina HiSeq 8ace649f-6c0a-47a4-9ebb-081fd6f8a025 d0983a5d-cb05-4b25-8053-631d52627b28 3 47267043 47267043 G A SNP SNORD13 ENST00000387814 human ensembl 54_36p -1 known rna NULL NULL 0.210 - - - pseudogene 367 32 8.02005012531328 284 238 45.5938697318008 5 0 0.00 +SCUBE3 0 genome.wustl.edu 37 6 35212479 35212479 + Silent SNP C C T TCGA-AB-2970-03A-01D-0739-09 TCGA-AB-2970-11A-01D-0739-09 C C C T C C Verified Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq 1 dbGAP Illumina HiSeq 8ace649f-6c0a-47a4-9ebb-081fd6f8a025 d0983a5d-cb05-4b25-8053-631d52627b28 6 35320457 35320457 C T SNP SCUBE3 NM_152753.2 human genbank 54_36p +1 provisional silent c.2292 p.R764 1.000 HMMSmart_SM00181,superfamily_Growth factor receptor domain,HMMPfam_GCC2_GCC3 PatternScan_ASX_HYDROXYL,HMMPfam_CUB,HMMSmart_SM00042,superfamily_Spermadhesin CUB domain,HMMSmart_SM00179,HMMPfam_EGF,HMMSmart_SM00181,superfamily_Growth factor receptor domain,HMMPfam_GCC2_GCC3,PatternScan_EGF_2,HMMPfam_EGF_CA,PatternScan_EGF_CA,superfamily_EGF/Laminin - no_errors 878 122 12.18 381 326 46.11 2 0 0.00 +BCLAF1 0 genome.wustl.edu 37 6 136597378 136597378 + Missense_Mutation SNP G G A TCGA-AB-2970-03A-01D-0739-09 TCGA-AB-2970-11A-01D-0739-09 G G G A G G Verified Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq 1 dbGAP Illumina HiSeq 8ace649f-6c0a-47a4-9ebb-081fd6f8a025 d0983a5d-cb05-4b25-8053-631d52627b28 6 136639071 136639071 G A SNP BCLAF1 NM_014739.1 human genbank 54_36p -1 reviewed missense c.1285 p.R429W 1.000 NULL NULL - no_errors 1318 90 6.37 623 155 19.87 53 56 51.38 +MSR1 0 genome.wustl.edu 37 8 15978072 15978072 + Silent SNP G G A TCGA-AB-2970-03A-01D-0739-09 TCGA-AB-2970-11A-01D-0739-09 G G G A G G Verified Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq 1 dbGAP Illumina HiSeq 8ace649f-6c0a-47a4-9ebb-081fd6f8a025 d0983a5d-cb05-4b25-8053-631d52627b28 8 16022443 16022443 G A SNP MSR1 NM_138715.3 human genbank 54_36p -1 reviewed silent c.1077 p.H359 0.042 HMMPfam_SRCR,PatternScan_SRCR_1,HMMSmart_SM00202,superfamily_SRCR-like HMMPfam_SRCR,PatternScan_SRCR_1,HMMPfam_Macscav_rec,HMMPfam_Collagen,HMMSmart_SM00202,superfamily_SRCR-like - no_errors 397 27 6.36792452830189 239 254 51.5212981744422 NA NA NA +EMX2OS 0 genome.wustl.edu 37 10 119249126 119249126 + RNA SNP T T C TCGA-AB-2970-03A-01D-0739-09 TCGA-AB-2970-11A-01D-0739-09 T T T C T T Verified Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq 1 dbGAP Illumina HiSeq 8ace649f-6c0a-47a4-9ebb-081fd6f8a025 d0983a5d-cb05-4b25-8053-631d52627b28 10 119239116 119239116 T C SNP EMX2OS NR_002791.2 human genbank 54_36p -1 provisional rna NULL NULL 0.001 - - - no_errors 685 37 5.12465373961219 497 451 47.5738396624473 0 0 0.00 +WT1 0 genome.wustl.edu 37 11 32413611 32413611 + Splice_Site SNP C C T TCGA-AB-2970-03A-01D-0739-09 TCGA-AB-2970-11A-01D-0739-09 C C C T C C Verified Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq 1 dbGAP Illumina HiSeq 8ace649f-6c0a-47a4-9ebb-081fd6f8a025 d0983a5d-cb05-4b25-8053-631d52627b28 11 32370187 32370187 C T SNP WT1 NM_024426.3 human genbank 54_36p -1 reviewed splice_site c.1340-1 e9-1 1.000 - - - no_errors 1126 137 10.80 311 239 43.38 5 3 37.50 +PLEKHH1 0 genome.wustl.edu 37 14 68036718 68036718 + Missense_Mutation SNP G G A TCGA-AB-2970-03A-01D-0739-09 TCGA-AB-2970-11A-01D-0739-09 G G G A G G Verified Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq 1 dbGAP Illumina HiSeq 8ace649f-6c0a-47a4-9ebb-081fd6f8a025 d0983a5d-cb05-4b25-8053-631d52627b28 14 67106471 67106471 G A SNP PLEKHH1 NM_020715.2 human genbank 54_36p +1 validated missense c.1423 p.A475T 0.998 NULL HMMPfam_MyTH4,HMMSmart_SM00139,HMMPfam_PH,HMMSmart_SM00233,HMMPfam_FERM_M,superfamily_Second domain of FERM,HMMSmart_SM00295,superfamily_PH domain-like - no_errors 793 114 12.56 363 313 46.30 NA NA NA +RUNX1 0 genome.wustl.edu 37 21 36259153 36259153 + Missense_Mutation SNP G G A TCGA-AB-2970-03A-01D-0739-09 TCGA-AB-2970-11A-01D-0739-09 G G G A G G Verified Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq 1 dbGAP Illumina HiSeq 8ace649f-6c0a-47a4-9ebb-081fd6f8a025 d0983a5d-cb05-4b25-8053-631d52627b28 21 35181023 35181023 G A SNP RUNX1 NM_001754.2 human genbank 54_36p -1 reviewed missense c.338 p.P113L 1.000 superfamily_p53-like transcription factors,HMMPfam_Runt superfamily_p53-like transcription factors,HMMPfam_Runt,HMMPfam_RunxI - no_errors 312 36 10.3448275862069 39 368 90.4176904176904 6 280 97.90 +BCOR 0 genome.wustl.edu 37 X 39933858 39933858 + Frame_Shift_Del DEL C C - TCGA-AB-2970-03A-01D-0739-09 TCGA-AB-2970-11A-01D-0739-09 C C C - C C Verified Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq 1 dbGAP Illumina HiSeq 8ace649f-6c0a-47a4-9ebb-081fd6f8a025 d0983a5d-cb05-4b25-8053-631d52627b28 X 39818802 39818802 C - DEL BCOR NM_017745.1 human genbank 54_36p -1 reviewed frame_shift_del c.741 p.P248fs 1.000 NULL HMMPfam_Ank,HMMSmart_ANK,superfamily_ANK - no_errors 999 113 10.01 254 230 45.28 2 57 82.61 +FLT3 0 genome.wustl.edu 37 13 28608258 28608259 + In_Frame_Ins INS - - GGCGATATTCATATTCTCTGAAATCAACGTAGAAGTACTCATTATCTGAGGAGCCGG TCGA-AB-2970-03A-01D-0739-09 TCGA-AB-2970-11A-01D-0739-09 - - - GGCGATATTCATATTCTCTGAAATCAACGTAGAAGTACTCATTATCTGAGGAGCCGG - - Verified Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq 1 dbGAP Illumina HiSeq 8ace649f-6c0a-47a4-9ebb-081fd6f8a025 d0983a5d-cb05-4b25-8053-631d52627b28 13 27506258 27506259 - GGCGATATTCATATTCTCTGAAATCAACGTAGAAGTACTCATTATCTGAGGAGCCGG INS FLT3 NM_004119.2 human genbank 54_36p -1 reviewed in_frame_ins c.1798_1797 p.599in_frame_insPAPQIMSTSTLISENMNIA 1.000:1.000 superfamily_Kinase_like HMMPfam_Pkinase_Tyr,HMMSmart_TyrKc,PatternScan_RECEPTOR_TYR_KIN_III,PatternScan_PROTEIN_KINASE_TYR,superfamily_Kinase_like,HMMPfam_ig,PatternScan_PROTEIN_KINASE_ATP,superfamily_SSF48726 - no_errors 228 39 14.6067415730337 145 226 60.9164420485175 NA NA NA +MTMR8 0 genome.wustl.edu 37 X 63488602 63488602 + Missense_Mutation SNP C C T TCGA-AB-2971-03A-01D-0739-09 TCGA-AB-2971-11A-01D-0739-09 C C C T C C Verified Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq 1 dbGAP Illumina HiSeq 62d20b8b-a793-432a-895c-d496cd3fae2c 3b98ab49-9ae4-461a-8e29-be6e97425d04 X 63405327 63405327 C T SNP MTMR8 NM_017677.2 human genbank 54_36p -1 provisional missense c.1930 p.E644K 0.003 NULL HMMSmart_SM00404,HMMPfam_Myotub-related,PatternScan_TYR_PHOSPHATASE_1,superfamily_PH domain-like,superfamily_(Phosphotyrosine protein) phosphatases II - no_errors 882 66 6.95 737 632 46.13 0 1 100.00 +SAP130 0 genome.wustl.edu 37 2 128770686 128770686 + Missense_Mutation SNP G G A TCGA-AB-2971-03A-01D-0739-09 TCGA-AB-2971-11A-01D-0739-09 G G G A G G Verified Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq 1 dbGAP Illumina HiSeq 62d20b8b-a793-432a-895c-d496cd3fae2c 3b98ab49-9ae4-461a-8e29-be6e97425d04 2 128487156 128487156 G A SNP SAP130 NM_024545.1 human genbank 54_36p -1 validated missense c.740 p.T247I 0.999 NULL NULL - no_errors 364 22 5.70 269 243 47.46 16 11 40.74 +RBM44 0 genome.wustl.edu 37 2 238742984 238742984 + Silent SNP A A G TCGA-AB-2971-03A-01D-0739-09 TCGA-AB-2971-11A-01D-0739-09 A A A G A A Verified Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq 1 dbGAP Illumina HiSeq 62d20b8b-a793-432a-895c-d496cd3fae2c 3b98ab49-9ae4-461a-8e29-be6e97425d04 2 238407723 238407723 A G SNP RBM44 NM_001080504.2 human genbank 54_36p +1 validated silent c.3096 p.L1032 0.992 NULL HMMPfam_RRM_1,HMMSmart_RRM,superfamily_SSF54928 - no_errors 344 29 7.77 285 193 40.29 2 0 0.00 +TET2 0 genome.wustl.edu 37 4 106197255 106197255 + Missense_Mutation SNP C C A TCGA-AB-2971-03A-01D-0739-09 TCGA-AB-2971-11A-01D-0739-09 C C C A C C Verified Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq 1 dbGAP Illumina HiSeq 62d20b8b-a793-432a-895c-d496cd3fae2c 3b98ab49-9ae4-461a-8e29-be6e97425d04 4 106416704 106416704 C A SNP TET2 ENST00000265149 human ensembl 54_36p +1 known missense c.1994 p.A665D 0.997 NULL NULL - no_start_codon 424 44 9.36 672 547 44.84 30 35 53.85 +BMP5 0 genome.wustl.edu 37 6 55638913 55638913 + Nonsense_Mutation SNP G G A TCGA-AB-2971-03A-01D-0739-09 TCGA-AB-2971-11A-01D-0739-09 G G G A G G Verified Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq 1 dbGAP Illumina HiSeq 62d20b8b-a793-432a-895c-d496cd3fae2c 3b98ab49-9ae4-461a-8e29-be6e97425d04 6 55746872 55746872 G A SNP BMP5 NM_021073.2 human genbank 54_36p -1 reviewed nonsense c.961 p.R321* 1.000 NULL HMMPfam_TGFb_propeptide,HMMPfam_TGF_beta,HMMSmart_TGFB,PatternScan_TGF_BETA_1,superfamily_SSF57501 - no_errors 515 50 8.85 545 451 45.28 NA NA NA +PTPRN2 0 genome.wustl.edu 37 7 157396754 157396754 + Silent SNP C C T TCGA-AB-2971-03A-01D-0739-09 TCGA-AB-2971-11A-01D-0739-09 C C C T C C Verified Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq 1 dbGAP Illumina HiSeq 62d20b8b-a793-432a-895c-d496cd3fae2c 3b98ab49-9ae4-461a-8e29-be6e97425d04 7 157089515 157089515 C T SNP PTPRN2 NM_002847.3 human genbank 54_36p -1 reviewed silent c.2358 p.R786 1.000 HMMPfam_Y_phosphatase,HMMSmart_SM00194,superfamily_(Phosphotyrosine protein) phosphatases II HMMPfam_Y_phosphatase,HMMSmart_SM00194,HMMSmart_SM00404,PatternScan_TYR_PHOSPHATASE_1,superfamily_(Phosphotyrosine protein) phosphatases II - no_errors 169 7 3.98 90 68 43.04 1 1 50.00 +LOC100128077 0 genome.wustl.edu 37 9 132253242 132253242 + Missense_Mutation SNP T T G TCGA-AB-2971-03A-01D-0739-09 TCGA-AB-2971-11A-01D-0739-09 T T T G T T Verified Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq 1 dbGAP Illumina HiSeq 62d20b8b-a793-432a-895c-d496cd3fae2c 3b98ab49-9ae4-461a-8e29-be6e97425d04 9 131293063 131293063 T G SNP LOC100128077 XM_001726459.1 human genbank 54_36p +1 model missense c.483 p.H161Q 0.001 NULL NULL - no_errors 207 22 9.57 87 76 46.63 1 4 80.00 +WEE1 0 genome.wustl.edu 37 11 9610036 9610036 + Missense_Mutation SNP G G A TCGA-AB-2971-03A-01D-0739-09 TCGA-AB-2971-11A-01D-0739-09 G G G A G G Verified Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq 1 dbGAP Illumina HiSeq 62d20b8b-a793-432a-895c-d496cd3fae2c 3b98ab49-9ae4-461a-8e29-be6e97425d04 11 9566612 9566612 G A SNP WEE1 NM_003390.1 human genbank 54_36p +1 reviewed missense c.1828 p.E610K 1.000 NULL PatternScan_PROTEIN_KINASE_ST,superfamily_Kinase_like,PatternScan_PROTEIN_KINASE_ATP,HMMPfam_Pkinase - no_errors 509 14 2.67 231 146 38.73 19 13 40.62 +E2F8 0 genome.wustl.edu 37 11 19251105 19251105 + Nonsense_Mutation SNP C C A TCGA-AB-2971-03A-01D-0739-09 TCGA-AB-2971-11A-01D-0739-09 C C C A C C Verified Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq 1 dbGAP Illumina HiSeq 62d20b8b-a793-432a-895c-d496cd3fae2c 3b98ab49-9ae4-461a-8e29-be6e97425d04 11 19207681 19207681 C A SNP E2F8 NM_024680.2 human genbank 54_36p -1 validated nonsense c.1789 p.E597* 0.065 NULL HMMPfam_E2F_TDP,superfamily_"Winged helix" DNA-binding domain - no_errors 650 39 5.66 350 336 48.98 2 1 33.33 +LOC644800 0 genome.wustl.edu 37 15 100331825 100331825 + Silent SNP C C T TCGA-AB-2971-03A-01D-0739-09 TCGA-AB-2971-11A-01D-0739-09 C C C T C C Verified Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq 1 dbGAP Illumina HiSeq 62d20b8b-a793-432a-895c-d496cd3fae2c 3b98ab49-9ae4-461a-8e29-be6e97425d04 15 98149348 98149348 C T SNP LOC644800 XM_001715415.1 human genbank 54_36p +1 model silent c.99 p.D33 0.992 NULL NULL - no_errors 313 20 5.95 203 213 51.20 NA NA NA +CNTNAP4 0 genome.wustl.edu 37 16 76461380 76461380 + Missense_Mutation SNP T T A TCGA-AB-2971-03A-01D-0739-09 TCGA-AB-2971-11A-01D-0739-09 T T T A T T Verified Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq 1 dbGAP Illumina HiSeq 62d20b8b-a793-432a-895c-d496cd3fae2c 3b98ab49-9ae4-461a-8e29-be6e97425d04 16 75018881 75018881 T A SNP CNTNAP4 NM_138994.3 human genbank 54_36p +1 validated missense c.347 p.V116D 0.998 HMMPfam_F5_F8_type_C,HMMSmart_SM00231,superfamily_Galactose-binding domain-like HMMPfam_F5_F8_type_C,HMMSmart_SM00231,PatternScan_FA58C_1,PatternScan_FA58C_2,HMMSmart_SM00282,superfamily_Fibrinogen C-terminal domain-like,HMMPfam_EGF,HMMSmart_SM00181,superfamily_Galactose-binding domain-like,superfamily_Concanavalin A-like lectins/glucanases,HMMPfam_Laminin_G_2 - no_errors 1284 97 7.02 1084 851 43.93 NA NA NA +ENSG00000167390 0 genome.wustl.edu 37 20 23971112 23971112 + Silent SNP C C T TCGA-AB-2971-03A-01D-0739-09 TCGA-AB-2971-11A-01D-0739-09 C C C T C C Verified Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq 1 dbGAP Illumina HiSeq 62d20b8b-a793-432a-895c-d496cd3fae2c 3b98ab49-9ae4-461a-8e29-be6e97425d04 20 23919112 23919112 C T SNP ENSG00000167390 ENST00000319850 human ensembl 54_36p +1 known silent c.666 p.Y222 0.044 NULL NULL - no_stop_codon 119 10 7.75 89 69 43.40 NA NA NA +MAPK1 0 genome.wustl.edu 37 22 22153395 22153395 + Missense_Mutation SNP C C T TCGA-AB-2971-03A-01D-0739-09 TCGA-AB-2971-11A-01D-0739-09 C C C T C C Verified Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq 1 dbGAP Illumina HiSeq 62d20b8b-a793-432a-895c-d496cd3fae2c 3b98ab49-9ae4-461a-8e29-be6e97425d04 22 20483395 20483395 C T SNP MAPK1 NM_002745.4 human genbank 54_36p -1 reviewed missense c.515 p.R172H 1.000 HMMSmart_SM00219,HMMSmart_SM00220,superfamily_Protein kinase-like (PK-like),HMMPfam_Pkinase HMMSmart_SM00219,HMMSmart_SM00220,PatternScan_MAPK,PatternScan_PROTEIN_KINASE_ST,superfamily_Protein kinase-like (PK-like),PatternScan_PROTEIN_KINASE_ATP,HMMPfam_Pkinase - no_errors 557 44 7.28 675 546 44.64 41 44 51.76 +TET2 0 genome.wustl.edu 37 4 106158309 106158309 + Frame_Shift_Del DEL T T - TCGA-AB-2971-03A-01D-0739-09 TCGA-AB-2971-11A-01D-0739-09 T T T - T T Verified Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq 1 dbGAP Illumina HiSeq 62d20b8b-a793-432a-895c-d496cd3fae2c 3b98ab49-9ae4-461a-8e29-be6e97425d04 4 106377758 106377758 T - DEL TET2 NM_017628.1 human genbank 54_36p +1 validated frame_shift_del c.3210 p.A1071fs 0.932 NULL NULL - no_errors 467 27 5.44 475 414 45.10 95 75 43.35 +ATP1B4 0 genome.wustl.edu 37 X 119505057 119505057 + Missense_Mutation SNP T T C TCGA-AB-2972-03A-01D-0739-09 TCGA-AB-2972-11A-01D-0739-09 T T T C T T Verified Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq 1 dbGAP Illumina HiSeq 6a7deace-79dc-4790-a415-07f0e933eb2a 4c00565d-2fd1-4fa8-ad7f-541683ece1b0 X 119389085 119389085 T C SNP ATP1B4 NM_012069.1 human genbank 54_36p +1 validated missense c.542 p.F181S 1.000 HMMPfam_Na_K-ATPase HMMPfam_Na_K-ATPase,PatternScan_ATPASE_NA_K_BETA_1,PatternScan_ATPASE_NA_K_BETA_2 - no_errors 832 1 0.12 339 258 43.00 NA NA NA +STAG2 0 genome.wustl.edu 37 X 123197716 123197716 + Nonsense_Mutation SNP C C T TCGA-AB-2972-03A-01D-0739-09 TCGA-AB-2972-11A-01D-0739-09 C C C T C C Verified Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq 1 dbGAP Illumina HiSeq 6a7deace-79dc-4790-a415-07f0e933eb2a 4c00565d-2fd1-4fa8-ad7f-541683ece1b0 X 123025397 123025397 C T SNP STAG2 NM_001042749.1 human genbank 54_36p +1 validated nonsense c.1840 p.R614* 1.000 superfamily_ARM-type_fold HMMPfam_STAG,superfamily_ARM-type_fold - no_errors 587 0 0.00 313 267 46.03 7 58 89.23 +TUFT1 0 genome.wustl.edu 37 1 151546791 151546791 + Missense_Mutation SNP G G A TCGA-AB-2972-03A-01D-0739-09 TCGA-AB-2972-11A-01D-0739-09 G G G A G G Verified Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq 1 dbGAP Illumina HiSeq 6a7deace-79dc-4790-a415-07f0e933eb2a 4c00565d-2fd1-4fa8-ad7f-541683ece1b0 1 149813415 149813415 G A SNP TUFT1 NM_020127.1 human genbank 54_36p +1 validated missense c.640 p.A214T 0.973 NULL NULL - no_errors 912 0 0.00 308 235 43.28 NA NA NA +HMCN1 0 genome.wustl.edu 37 1 185958621 185958621 + Missense_Mutation SNP A A G TCGA-AB-2972-03A-01D-0739-09 TCGA-AB-2972-11A-01D-0739-09 A A A G A A Verified Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq 1 dbGAP Illumina HiSeq 6a7deace-79dc-4790-a415-07f0e933eb2a 4c00565d-2fd1-4fa8-ad7f-541683ece1b0 1 184225244 184225244 A G SNP HMCN1 NM_031935.2 human genbank 54_36p +1 reviewed missense c.3050 p.K1017R 1.000 HMMSmart_SM00408,HMMSmart_SM00409,HMMPfam_I-set,superfamily_Immunoglobulin PatternScan_ASX_HYDROXYL,PatternScan_CECROPIN,HMMPfam_TSP_1,HMMSmart_SM00209,superfamily_TSP-1 type 1 repeat,HMMSmart_SM00179,HMMSmart_SM00406,HMMSmart_SM00408,HMMSmart_SM00409,HMMPfam_EGF,HMMSmart_SM00181,HMMPfam_G2F,HMMSmart_SM00682,superfamily_GFP-like,PatternScan_EGF_2,HMMPfam_EGF_CA,HMMPfam_I-set,HMMPfam_ig,PatternScan_EGF_CA,superfamily_Immunoglobulin,superfamily_vWA-like,superfamily_EGF/Laminin - no_errors 672 1 0.15 361 341 48.58 NA NA NA +uc002rsf.1 0 genome.wustl.edu 37 2 42180432 42180432 + Missense_Mutation SNP C C G TCGA-AB-2972-03A-01D-0739-09 TCGA-AB-2972-11A-01D-0739-09 C C C G C C Verified Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq 1 dbGAP Illumina HiSeq 6a7deace-79dc-4790-a415-07f0e933eb2a 4c00565d-2fd1-4fa8-ad7f-541683ece1b0 2 42033936 42033936 C G SNP uc002rsf.1 ENST00000403980 human ensembl 54_36p -1 known missense c.118 p.V40L 0.000 NULL NULL - no_errors 462 0 0.00 219 142 39.34 NA NA NA +ASTL 0 genome.wustl.edu 37 2 96801149 96801149 + Missense_Mutation SNP G G A TCGA-AB-2972-03A-01D-0739-09 TCGA-AB-2972-11A-01D-0739-09 G G G A G G Verified Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq 1 dbGAP Illumina HiSeq 6a7deace-79dc-4790-a415-07f0e933eb2a 4c00565d-2fd1-4fa8-ad7f-541683ece1b0 2 96164876 96164876 G A SNP ASTL NM_001002036.3 human genbank 54_36p -1 validated missense c.184 p.L62F 0.996 NULL HMMPfam_Astacin,HMMSmart_SM00235,superfamily_Metalloproteases ("zincins") catalytic domain - no_errors 664 1 0.15 126 75 36.95 1 4 80.00 +DNAH5 0 genome.wustl.edu 37 5 13894834 13894834 + Missense_Mutation SNP G G T TCGA-AB-2972-03A-01D-0739-09 TCGA-AB-2972-11A-01D-0739-09 G G G T G G Verified Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq 1 dbGAP Illumina HiSeq 6a7deace-79dc-4790-a415-07f0e933eb2a 4c00565d-2fd1-4fa8-ad7f-541683ece1b0 5 13947834 13947834 G T SNP DNAH5 NM_001369.2 human genbank 54_36p -1 validated missense c.2356 p.Q786K 1.000 HMMPfam_DHC_N1 HMMSmart_AAA,HMMPfam_Dynein_heavy,HMMPfam_AAA_5,HMMPfam_DHC_N1,HMMPfam_DHC_N2,superfamily_Spectrin,superfamily_SSF52540 - no_errors 1142 2 0.17 577 467 44.73 NA NA NA +DROSHA 0 genome.wustl.edu 37 5 31409392 31409392 + Missense_Mutation SNP T T A TCGA-AB-2972-03A-01D-0739-09 TCGA-AB-2972-11A-01D-0739-09 T T T A T T Verified Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq 1 dbGAP Illumina HiSeq 6a7deace-79dc-4790-a415-07f0e933eb2a 4c00565d-2fd1-4fa8-ad7f-541683ece1b0 5 31445149 31445149 T A SNP RNASEN NM_013235.1 human genbank 54_36p -1 validated missense c.3715 p.T1239S 1.000 HMMSmart_SM00535,superfamily_RNase III catalytic domain-like (Pfam 00636) HMMPfam_Ribonuclease_3,HMMSmart_SM00535,PatternScan_RNASE_3_1,superfamily_RNase III catalytic domain-like (Pfam 00636),HMMPfam_dsrm,HMMSmart_SM00358,superfamily_dsRNA-binding domain-like - no_errors 743 1 0.13 308 245 44.22 35 27 43.55 +DOCK2 0 genome.wustl.edu 37 5 169127134 169127134 + Missense_Mutation SNP A A G TCGA-AB-2972-03A-01D-0739-09 TCGA-AB-2972-11A-01D-0739-09 A A A G A A Verified Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq 1 dbGAP Illumina HiSeq 6a7deace-79dc-4790-a415-07f0e933eb2a 4c00565d-2fd1-4fa8-ad7f-541683ece1b0 5 169059712 169059712 A G SNP DOCK2 NM_004946.2 human genbank 54_36p +1 validated missense c.1249 p.I417V 1.000 NULL HMMSmart_SM00326,superfamily_SH3-domain,superfamily_Cytochrome c,HMMPfam_SH3_2 - no_errors 877 2 0.23 451 304 40.21 50 36 41.86 +KIAA0240 0 genome.wustl.edu 37 6 42797687 42797687 + Missense_Mutation SNP G G A TCGA-AB-2972-03A-01D-0739-09 TCGA-AB-2972-11A-01D-0739-09 G G G A G G Verified Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq 1 dbGAP Illumina HiSeq 6a7deace-79dc-4790-a415-07f0e933eb2a 4c00565d-2fd1-4fa8-ad7f-541683ece1b0 6 42905665 42905665 G A SNP KIAA0240 NM_015349.1 human genbank 54_36p +1 validated missense c.1616 p.R539Q 0.988 NULL NULL - no_errors 794 4 0.50 312 243 43.63 19 12 38.71 +RIMS1 0 genome.wustl.edu 37 6 72806854 72806854 + Missense_Mutation SNP C C T TCGA-AB-2972-03A-01D-0739-09 TCGA-AB-2972-11A-01D-0739-09 C C C T C C Verified Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq 1 dbGAP Illumina HiSeq 6a7deace-79dc-4790-a415-07f0e933eb2a 4c00565d-2fd1-4fa8-ad7f-541683ece1b0 6 72863575 72863575 C T SNP RIMS1 NM_014989.3 human genbank 54_36p +1 validated missense c.448 p.R150W 1.000 superfamily_FYVE/PHD zinc finger HMMPfam_C2,HMMSmart_SM00239,HMMPfam_PDZ,HMMSmart_SM00228,superfamily_PDZ domain-like,superfamily_C2 domain (Calcium/lipid-binding domain CaLB),superfamily_FYVE/PHD zinc finger,PatternScan_GLYCOSYL_HYDROL_F1_1 - no_errors 685 0 0.00 522 130 19.85 NA NA NA +CALD1 0 genome.wustl.edu 37 7 134613518 134613518 + Silent SNP A A C TCGA-AB-2972-03A-01D-0739-09 TCGA-AB-2972-11A-01D-0739-09 A A A C A A Verified Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq 1 dbGAP Illumina HiSeq 6a7deace-79dc-4790-a415-07f0e933eb2a 4c00565d-2fd1-4fa8-ad7f-541683ece1b0 7 134264058 134264058 A C SNP CALD1 NM_033138.5 human genbank 54_36p +1 reviewed silent c.85 p.R29 1.000 HMMPfam_Caldesmon HMMPfam_Caldesmon,PatternScan_PHOSPHOPANTETHEINE - no_errors 790 8 1.00 264 224 45.90 3 0 0.00 +LARP4B 0 genome.wustl.edu 37 10 871204 871204 + Missense_Mutation SNP G G A TCGA-AB-2972-03A-01D-0739-09 TCGA-AB-2972-11A-01D-0739-09 G G G A G G Verified Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq 1 dbGAP Illumina HiSeq 6a7deace-79dc-4790-a415-07f0e933eb2a 4c00565d-2fd1-4fa8-ad7f-541683ece1b0 10 861204 861204 G A SNP LARP5 NM_015155.1 human genbank 54_36p -1 provisional missense c.1285 p.P429S 0.992 NULL HMMPfam_La,HMMSmart_SM00715,superfamily_"Winged helix" DNA-binding domain - no_errors 561 1 0.18 285 106 27.04 56 55 49.55 +C10orf118 0 genome.wustl.edu 37 10 115891901 115891901 + Missense_Mutation SNP A A C TCGA-AB-2972-03A-01D-0739-09 TCGA-AB-2972-11A-01D-0739-09 A A A C A A Verified Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq 1 dbGAP Illumina HiSeq 6a7deace-79dc-4790-a415-07f0e933eb2a 4c00565d-2fd1-4fa8-ad7f-541683ece1b0 10 115881891 115881891 A C SNP C10orf118 NM_018017.2 human genbank 54_36p -1 validated missense c.1698 p.S566R 1.000 superfamily_Prefoldin superfamily_Prefoldin - no_errors 514 2 0.39 230 216 48.43 15 8 34.78 +ENSG00000209815 0 genome.wustl.edu 37 11 59266511 59266511 + RNA SNP C C T TCGA-AB-2972-03A-01D-0739-09 TCGA-AB-2972-11A-01D-0739-09 C C C T C C Verified Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq 1 dbGAP Illumina HiSeq 6a7deace-79dc-4790-a415-07f0e933eb2a 4c00565d-2fd1-4fa8-ad7f-541683ece1b0 11 59023087 59023087 C T SNP ENSG00000209815 ENST00000387080 human ensembl 54_36p +1 novel rna NULL NULL 0.000 - - - pseudogene 662 0 0.00 426 73 14.60 NA NA NA +FRMD8 0 genome.wustl.edu 37 11 65161099 65161099 + Silent SNP G G A TCGA-AB-2972-03A-01D-0739-09 TCGA-AB-2972-11A-01D-0739-09 G G G A G G Verified Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq 1 dbGAP Illumina HiSeq 6a7deace-79dc-4790-a415-07f0e933eb2a 4c00565d-2fd1-4fa8-ad7f-541683ece1b0 11 64917675 64917675 G A SNP FRMD8 NM_031904.3 human genbank 54_36p +1 validated silent c.309 p.E103 0.999 HMMSmart_SM00295 HMMPfam_FERM_M,superfamily_Second domain of FERM,HMMSmart_SM00295 - no_errors 793 2 0.25 136 168 54.90 8 8 50.00 +PTPN11 0 genome.wustl.edu 37 12 112926884 112926884 + Missense_Mutation SNP T T C rs121918458 TCGA-AB-2972-03A-01D-0739-09 TCGA-AB-2972-11A-01D-0739-09 T T T C T T Verified Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq 1 dbGAP Illumina HiSeq 6a7deace-79dc-4790-a415-07f0e933eb2a 4c00565d-2fd1-4fa8-ad7f-541683ece1b0 12 111411267 111411267 T C SNP PTPN11 NM_002834.3 human genbank 54_36p +1 reviewed missense c.1504 p.S502P 1.000 HMMPfam_Y_phosphatase,HMMSmart_SM00194,HMMSmart_SM00404,superfamily_(Phosphotyrosine protein) phosphatases II HMMPfam_Y_phosphatase,HMMSmart_SM00194,HMMPfam_SH2,HMMSmart_SM00252,HMMSmart_SM00404,PatternScan_TYR_PHOSPHATASE_1,superfamily_(Phosphotyrosine protein) phosphatases II,superfamily_SH2 domain - no_errors 1221 1 0.08 570 192 25.16 20 13 39.39 +MIR1267 0 genome.wustl.edu 37 13 108183564 108183564 + RNA SNP G G T TCGA-AB-2972-03A-01D-0739-09 TCGA-AB-2972-11A-01D-0739-09 G G G T G G Verified Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq 1 dbGAP Illumina HiSeq 6a7deace-79dc-4790-a415-07f0e933eb2a 4c00565d-2fd1-4fa8-ad7f-541683ece1b0 13 106981565 106981565 G T SNP MIRN1267 ENST00000408723 human ensembl 54_36p -1 known rna NULL NULL 0.023 - - - no_errors 300 4 1.32 239 162 40.40 NA NA NA +FANCI 0 genome.wustl.edu 37 15 89847119 89847119 + Missense_Mutation SNP T T A TCGA-AB-2972-03A-01D-0739-09 TCGA-AB-2972-11A-01D-0739-09 T T T A T T Verified Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq 1 dbGAP Illumina HiSeq 6a7deace-79dc-4790-a415-07f0e933eb2a 4c00565d-2fd1-4fa8-ad7f-541683ece1b0 15 87648123 87648123 T A SNP FANCI NM_018193.1 human genbank 54_36p +1 reviewed missense c.2851 p.S951T 0.084 NULL NULL - no_errors 605 5 0.82 225 178 43.95 17 32 65.31 +DNAH3 0 genome.wustl.edu 37 16 20994057 20994057 + Missense_Mutation SNP G G C TCGA-AB-2972-03A-01D-0739-09 TCGA-AB-2972-11A-01D-0739-09 G G G C G G Verified Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq 1 dbGAP Illumina HiSeq 6a7deace-79dc-4790-a415-07f0e933eb2a 4c00565d-2fd1-4fa8-ad7f-541683ece1b0 16 20901558 20901558 G C SNP DNAH3 NM_017539.1 human genbank 54_36p -1 provisional missense c.7845 p.D2615E 0.829 superfamily_P-loop containing nucleoside triphosphate hydrolases HMMSmart_SM00382,HMMPfam_Dynein_heavy,superfamily_Prefoldin,HMMPfam_AAA_5,HMMPfam_DHC_N2,superfamily_P-loop containing nucleoside triphosphate hydrolases - no_errors 600 0 0.00 195 174 47.15 0 0 0.00 +ZC3H18 0 genome.wustl.edu 37 16 88688690 88688690 + Nonsense_Mutation SNP C C T TCGA-AB-2972-03A-01D-0739-09 TCGA-AB-2972-11A-01D-0739-09 C C C T C C Verified Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq 1 dbGAP Illumina HiSeq 6a7deace-79dc-4790-a415-07f0e933eb2a 4c00565d-2fd1-4fa8-ad7f-541683ece1b0 16 87216191 87216191 C T SNP ZC3H18 NM_144604.2 human genbank 54_36p +1 provisional nonsense c.1561 p.R521* 1.000 NULL HMMPfam_zf-CCCH,HMMSmart_SM00356 - no_errors 299 0 0.00 83 63 43.15 26 6 18.75 +CACNA1A 0 genome.wustl.edu 37 19 13370431 13370431 + Silent SNP C C T TCGA-AB-2972-03A-01D-0739-09 TCGA-AB-2972-11A-01D-0739-09 C C C T C C Verified Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq 1 dbGAP Illumina HiSeq 6a7deace-79dc-4790-a415-07f0e933eb2a 4c00565d-2fd1-4fa8-ad7f-541683ece1b0 19 13231431 13231431 C T SNP CACNA1A ENST00000325084 human ensembl 54_36p -1 known silent c.4338 p.V1446 1.000 HMMPfam_Ion_trans,superfamily_Voltage-gated potassium channels HMMPfam_Ion_trans,HMMPfam_Ca_chan_IQ,superfamily_Voltage-gated potassium channels - no_errors 1009 9 0.88 295 214 41.72 0 0 0.00 +CYP4F8 0 genome.wustl.edu 37 19 15739592 15739592 + Missense_Mutation SNP G G A TCGA-AB-2972-03A-01D-0739-09 TCGA-AB-2972-11A-01D-0739-09 G G G A G G Verified Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq 1 dbGAP Illumina HiSeq 6a7deace-79dc-4790-a415-07f0e933eb2a 4c00565d-2fd1-4fa8-ad7f-541683ece1b0 19 15600592 15600592 G A SNP CYP4F8 ENST00000325723 human ensembl 54_36p +1 known missense c.1333 p.D445N 0.996 HMMPfam_p450,superfamily_Cytochrome P450 HMMPfam_p450,superfamily_Cytochrome P450,PatternScan_CYTOCHROME_P450 - no_errors 466 0 0.00 131 96 42.11 NA NA NA +ZNF43 0 genome.wustl.edu 37 19 21991712 21991712 + Missense_Mutation SNP C C T TCGA-AB-2972-03A-01D-0739-09 TCGA-AB-2972-11A-01D-0739-09 C C C T C C Verified Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq 1 dbGAP Illumina HiSeq 6a7deace-79dc-4790-a415-07f0e933eb2a 4c00565d-2fd1-4fa8-ad7f-541683ece1b0 19 21783552 21783552 C T SNP ZNF43 NM_003423.2 human genbank 54_36p -1 validated missense c.1127 p.G376D 0.636 HMMPfam_zf-C2H2,PatternScan_ZINC_FINGER_C2H2_1,HMMSmart_SM00355,superfamily_C2H2 and C2HC zinc fingers HMMPfam_KRAB,HMMSmart_SM00349,superfamily_KRAB domain (Kruppel-associated box Pfam 01352),HMMPfam_zf-C2H2,PatternScan_ZINC_FINGER_C2H2_1,HMMSmart_SM00355,superfamily_C2H2 and C2HC zinc fingers - no_errors 785 0 0.00 235 225 48.91 25 33 56.90 +SRSF6 0 genome.wustl.edu 37 20 42088521 42088521 + Missense_Mutation SNP T T A TCGA-AB-2972-03A-01D-0739-09 TCGA-AB-2972-11A-01D-0739-09 T T T A T T Verified Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq 1 dbGAP Illumina HiSeq 6a7deace-79dc-4790-a415-07f0e933eb2a 4c00565d-2fd1-4fa8-ad7f-541683ece1b0 20 41521935 41521935 T A SNP SFRS6 NM_006275.5 human genbank 54_36p +1 reviewed missense c.367 p.W123R 1.000 HMMPfam_RRM_1,HMMSmart_SM00360,superfamily_RNA-binding domain RBD HMMPfam_RRM_1,HMMSmart_SM00360,superfamily_RNA-binding domain RBD - no_errors 571 1 0.17 226 80 26.14 136 179 56.47 +MORC3 0 genome.wustl.edu 37 21 37711165 37711165 + Missense_Mutation SNP T T C TCGA-AB-2972-03A-01D-0739-09 TCGA-AB-2972-11A-01D-0739-09 T T T C T T Verified Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq 1 dbGAP Illumina HiSeq 6a7deace-79dc-4790-a415-07f0e933eb2a 4c00565d-2fd1-4fa8-ad7f-541683ece1b0 21 36633035 36633035 T C SNP MORC3 NM_015358.2 human genbank 54_36p +1 reviewed missense c.554 p.L185P 1.000 superfamily_ATP_bd_ATPase HMMPfam_HATPase_c,superfamily_ATP_bd_ATPase,HMMPfam_zf-CW - no_errors 1179 1 0.08 290 231 44.25 59 43 42.16 +NPM1 0 genome.wustl.edu 37 5 170837547 170837548 + Frame_Shift_Ins INS - - TCTG TCGA-AB-2972-03A-01D-0739-09 TCGA-AB-2972-11A-01D-0739-09 - - - TCTG - - Verified Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq 1 dbGAP Illumina HiSeq 6a7deace-79dc-4790-a415-07f0e933eb2a 4c00565d-2fd1-4fa8-ad7f-541683ece1b0 5 170770152 170770153 - TCTG INS NPM1 NM_002520.1 human genbank 54_36p +1 validated frame_shift_ins c.863_864 p.W288fs 1.000:1.000 NULL HMMPfam_Nucleoplasmin,superfamily_Nucleoplasmin-like core domain - no_errors NA NA NA NA NA NA NA NA NA +ENSG00000169164 0 genome.wustl.edu 37 X 55683369 55683369 + Silent SNP G G A TCGA-AB-2973-03A-01D-0739-09 TCGA-AB-2973-11A-01D-0739-09 G G G A G G Verified Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq 1 dbGAP Illumina HiSeq 74dfde23-debb-4c0c-80cb-e06928350b5d cf1f73e2-147b-42f5-8797-004eb789f776 X 55700094 55700094 G A SNP ENSG00000169164 ENST00000347911 human ensembl 54_36p -1 known silent c.28 p.L10 0.000 HMMPfam_GAGE HMMPfam_GAGE - no_start_codon:no_stop_codon 498 59 10.57 404 355 46.77 NA NA NA +ACVR2B 0 genome.wustl.edu 37 3 38519671 38519671 + Missense_Mutation SNP C C T TCGA-AB-2973-03A-01D-0739-09 TCGA-AB-2973-11A-01D-0739-09 C C C T C C Verified Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq 1 dbGAP Illumina HiSeq 74dfde23-debb-4c0c-80cb-e06928350b5d cf1f73e2-147b-42f5-8797-004eb789f776 3 38494675 38494675 C T SNP ACVR2B NM_001106.3 human genbank 54_36p +1 reviewed missense c.410 p.T137M 1.000 NULL HMMPfam_Activin_recp,HMMSmart_SM00219,HMMSmart_SM00220,PatternScan_PROTEIN_KINASE_ST,superfamily_Protein kinase-like (PK-like),HMMPfam_Pkinase,superfamily_Snake toxin-like - no_errors 331 62 15.78 240 183 43.26 NA NA NA +COL19A1 0 genome.wustl.edu 37 6 70852699 70852699 + Missense_Mutation SNP C C T TCGA-AB-2973-03A-01D-0739-09 TCGA-AB-2973-11A-01D-0739-09 C C C T C C Verified Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq 1 dbGAP Illumina HiSeq 74dfde23-debb-4c0c-80cb-e06928350b5d cf1f73e2-147b-42f5-8797-004eb789f776 6 70909420 70909420 C T SNP COL19A1 NM_001858.4 human genbank 54_36p +1 reviewed missense c.1613 p.P538L 1.000 HMMPfam_Collagen HMMSmart_TSPN,HMMPfam_Collagen,superfamily_ConA_like_lec_gl - no_errors 542 68 11.1475409836066 376 253 40.2225755166932 4 0 0.00 +RET 0 genome.wustl.edu 37 10 43600500 43600500 + Silent SNP G G T TCGA-AB-2973-03A-01D-0739-09 TCGA-AB-2973-11A-01D-0739-09 G G G T G G Verified Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq 1 dbGAP Illumina HiSeq 74dfde23-debb-4c0c-80cb-e06928350b5d cf1f73e2-147b-42f5-8797-004eb789f776 10 42920506 42920506 G T SNP RET NM_020975.4 human genbank 54_36p +1 reviewed silent c.726 p.V242 0.006 HMMPfam_Cadherin,HMMSmart_CA,superfamily_Cadherin HMMPfam_Pkinase_Tyr,HMMSmart_TyrKc,HMMPfam_Cadherin,HMMSmart_CA,PatternScan_PROTEIN_KINASE_TYR,superfamily_Kinase_like,superfamily_Cadherin,PatternScan_PROTEIN_KINASE_ATP - no_errors 262 53 16.8253968253968 174 132 43.1372549019608 1 0 0.00 +ACTA2 0 genome.wustl.edu 37 10 90695109 90695109 + Silent SNP C C T TCGA-AB-2973-03A-01D-0739-09 TCGA-AB-2973-11A-01D-0739-09 C C C T C C Verified Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq 1 dbGAP Illumina HiSeq 74dfde23-debb-4c0c-80cb-e06928350b5d cf1f73e2-147b-42f5-8797-004eb789f776 10 90685089 90685089 C T SNP ACTA2 NM_001613.1 human genbank 54_36p -1 reviewed silent c.1005 p.P335 1.000 HMMPfam_Actin,HMMSmart_SM00268,superfamily_Actin-like ATPase domain HMMPfam_Actin,HMMSmart_SM00268,PatternScan_ACTINS_ACT_LIKE,PatternScan_ACTINS_1,PatternScan_ACTINS_2,superfamily_Actin-like ATPase domain - no_errors 486 0 0 496 1 0.201207243460765 23 0 0.00 +IDH2 0 genome.wustl.edu 37 15 90631934 90631934 + Missense_Mutation SNP C C T rs121913502 TCGA-AB-2973-03A-01D-0739-09 TCGA-AB-2973-11A-01D-0739-09 C C C T C C Verified Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq 1 dbGAP Illumina HiSeq 74dfde23-debb-4c0c-80cb-e06928350b5d cf1f73e2-147b-42f5-8797-004eb789f776 15 88432938 88432938 C T SNP IDH2 NM_002168.2 human genbank 54_36p -1 reviewed missense c.419 p.R140Q 1.000 HMMPfam_Iso_dh,superfamily_Isocitrate/Isopropylmalate dehydrogenase-like HMMPfam_Iso_dh,PatternScan_IDH_IMDH,superfamily_Isocitrate/Isopropylmalate dehydrogenase-like - no_errors 367 49 11.78 136 18 11.69 82 54 39.42 +NPM1 0 genome.wustl.edu 37 5 170837543 170837544 + Frame_Shift_Ins INS - - TCTG TCGA-AB-2973-03A-01D-0739-09 TCGA-AB-2973-11A-01D-0739-09 - - - TCTG - - Verified Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq 1 dbGAP Illumina HiSeq 74dfde23-debb-4c0c-80cb-e06928350b5d cf1f73e2-147b-42f5-8797-004eb789f776 5 170770148 170770149 - TCTG INS NPM1 NM_002520.1 human genbank 54_36p +1 validated frame_shift_ins c.859_860 p.W288fs 1.000:1.000 NULL HMMPfam_Nucleoplasmin,superfamily_Nucleoplasmin-like core domain - no_errors 166 27 13.9896373056995 129 67 34.1836734693878 NA NA NA +DNMT3A 0 genome.wustl.edu 37 2 25457243 25457243 + Missense_Mutation SNP G G A TCGA-AB-2974-03A-01D-0739-09 TCGA-AB-2974-11A-01D-0739-09 G G G A G G Verified Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq 1 dbGAP Illumina HiSeq cd5c86f1-aa57-4266-b150-c64cbf496a27 d811ed5b-2b58-412c-aa34-2678349ba1f5 2 25310747 25310747 G A SNP DNMT3A NM_022552.3 human genbank 54_36p -1 reviewed missense c.2644 p.R882C 1.000 superfamily_S-adenosyl-L-methionine-dependent methyltransferases HMMPfam_PWWP,HMMSmart_SM00293,HMMPfam_DNA_methylase,superfamily_FYVE/PHD zinc finger,PatternScan_C5_MTASE_1,superfamily_S-adenosyl-L-methionine-dependent methyltransferases,superfamily_Tudor/PWWP/MBT - no_errors 10 4 28.57 13 18 56.25 NA NA NA +NOX3 0 genome.wustl.edu 37 6 155774556 155774556 + Missense_Mutation SNP C C T TCGA-AB-2974-03A-01D-0739-09 TCGA-AB-2974-11A-01D-0739-09 C C C T C C Verified Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq 1 dbGAP Illumina HiSeq cd5c86f1-aa57-4266-b150-c64cbf496a27 d811ed5b-2b58-412c-aa34-2678349ba1f5 6 155816248 155816248 C T SNP NOX3 NM_015718.1 human genbank 54_36p -1 provisional missense c.322 p.G108R 1.000 HMMPfam_Ferric_reduct HMMPfam_FAD_binding_8,HMMPfam_NAD_binding_6,HMMPfam_Ferric_reduct,superfamily_Riboflavin_synthase_like_b-brl,superfamily_SSF52343 - no_errors 469 85 15.21 1019 886 46.48 NA NA NA +GRM8 0 genome.wustl.edu 37 7 126173379 126173379 + Missense_Mutation SNP G G A TCGA-AB-2974-03A-01D-0739-09 TCGA-AB-2974-11A-01D-0739-09 G G G A G G Verified Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq 1 dbGAP Illumina HiSeq cd5c86f1-aa57-4266-b150-c64cbf496a27 d811ed5b-2b58-412c-aa34-2678349ba1f5 7 125960615 125960615 G A SNP GRM8 NM_000845.2 human genbank 54_36p -1 reviewed missense c.2057 p.A686V 1.000 HMMPfam_7tm_3 HMMPfam_ANF_receptor,HMMPfam_NCD3G,HMMPfam_7tm_3,PatternScan_G_PROTEIN_RECEP_F3_1,PatternScan_G_PROTEIN_RECEP_F3_2,PatternScan_G_PROTEIN_RECEP_F3_3,superfamily_Periplasmic binding protein-like I - no_errors 744 79 9.59 947 597 38.62 NA NA NA +PKD2L1 0 genome.wustl.edu 37 10 102054727 102054727 + Missense_Mutation SNP C C T TCGA-AB-2974-03A-01D-0739-09 TCGA-AB-2974-11A-01D-0739-09 C C C T C C Verified Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq 1 dbGAP Illumina HiSeq cd5c86f1-aa57-4266-b150-c64cbf496a27 d811ed5b-2b58-412c-aa34-2678349ba1f5 10 102044717 102044717 C T SNP PKD2L1 NM_016112.2 human genbank 54_36p -1 reviewed missense c.1510 p.E504K 1.000 HMMPfam_PKD_channel,superfamily_Voltage-gated potassium channels HMMPfam_PKD_channel,superfamily_Voltage-gated potassium channels - no_errors 770 102 11.64 369 278 42.84 NA NA NA +FLT3 0 genome.wustl.edu 37 13 28592642 28592642 + Missense_Mutation SNP C C A rs121913488 TCGA-AB-2974-03A-01D-0739-09 TCGA-AB-2974-11A-01D-0739-09 C C C A C C Verified Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq 1 dbGAP Illumina HiSeq cd5c86f1-aa57-4266-b150-c64cbf496a27 d811ed5b-2b58-412c-aa34-2678349ba1f5 13 27490642 27490642 C A SNP FLT3 NM_004119.2 human genbank 54_36p -1 reviewed missense c.2503 p.D835Y 1.000 HMMPfam_Pkinase_Tyr,HMMSmart_TyrKc,superfamily_Kinase_like HMMPfam_Pkinase_Tyr,HMMSmart_TyrKc,PatternScan_RECEPTOR_TYR_KIN_III,PatternScan_PROTEIN_KINASE_TYR,superfamily_Kinase_like,HMMPfam_ig,PatternScan_PROTEIN_KINASE_ATP,superfamily_SSF48726 - no_errors 910 135 12.92 667 573 46.14 NA NA NA +FAM27L 0 genome.wustl.edu 37 17 21826201 21826201 + Silent SNP C C T TCGA-AB-2974-03A-01D-0739-09 TCGA-AB-2974-11A-01D-0739-09 C C C T C C Verified Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq 1 dbGAP Illumina HiSeq cd5c86f1-aa57-4266-b150-c64cbf496a27 d811ed5b-2b58-412c-aa34-2678349ba1f5 17 21750328 21750328 C T SNP FAM27L NM_203392.2 human genbank 54_36p +1 predicted silent c.180 p.H60 0.000 NULL NULL - no_errors 276 39 12.34 196 155 44.16 NA NA NA +PSG3 0 genome.wustl.edu 37 19 43237057 43237057 + Silent SNP G G A TCGA-AB-2974-03A-01D-0739-09 TCGA-AB-2974-11A-01D-0739-09 G G G A G G Verified Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq 1 dbGAP Illumina HiSeq cd5c86f1-aa57-4266-b150-c64cbf496a27 d811ed5b-2b58-412c-aa34-2678349ba1f5 19 47928897 47928897 G A SNP PSG3 NM_021016.3 human genbank 54_36p -1 validated silent c.588 p.S196 0.001 HMMSmart_IG,HMMPfam_ig,superfamily_SSF48726 HMMSmart_IGc2,HMMSmart_IG,HMMPfam_V-set,HMMPfam_ig,superfamily_SSF48726 - no_errors 723 102 12.35 957 854 47.13 NA NA NA +MYO18B 0 genome.wustl.edu 37 22 26219599 26219599 + Silent SNP G G A TCGA-AB-2974-03A-01D-0739-09 TCGA-AB-2974-11A-01D-0739-09 G G G A G G Verified Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq 1 dbGAP Illumina HiSeq cd5c86f1-aa57-4266-b150-c64cbf496a27 d811ed5b-2b58-412c-aa34-2678349ba1f5 22 24549599 24549599 G A SNP MYO18B NM_032608.5 human genbank 54_36p +1 reviewed silent c.2649 p.T883 0.000 HMMSmart_SM00242,superfamily_P-loop containing nucleoside triphosphate hydrolases HMMPfam_IQ,HMMPfam_Myosin_head,HMMSmart_SM00242,superfamily_P-loop containing nucleoside triphosphate hydrolases - no_errors 768 80 9.40 318 309 49.13 NA NA NA +NPM1 0 genome.wustl.edu 37 5 170837547 170837548 + Frame_Shift_Ins INS - - TCTG TCGA-AB-2974-03A-01D-0739-09 TCGA-AB-2974-11A-01D-0739-09 - - - TCTG - - Verified Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq 1 dbGAP Illumina HiSeq cd5c86f1-aa57-4266-b150-c64cbf496a27 d811ed5b-2b58-412c-aa34-2678349ba1f5 5 170770152 170770153 - TCTG INS NPM1 NM_002520.1 human genbank 54_36p +1 validated frame_shift_ins c.863_864 p.W288fs 1.000:1.000 NULL HMMPfam_Nucleoplasmin,superfamily_Nucleoplasmin-like core domain - no_errors NA NA NA NA NA NA NA NA NA +DNMT3A 0 genome.wustl.edu 37 2 25457242 25457242 + Missense_Mutation SNP C C T TCGA-AB-2975-03A-01D-0739-09 TCGA-AB-2975-11A-01D-0739-09 C C C T C C Verified Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq 1 dbGAP Illumina HiSeq 46b127f4-a3de-486c-8b90-d300ee13b182 07925c7f-550a-4728-908a-1ed34112da56 2 25310746 25310746 C T SNP DNMT3A NM_022552.3 human genbank 54_36p -1 reviewed missense c.2645 p.R882H 1.000 superfamily_S-adenosyl-L-methionine-dependent methyltransferases HMMPfam_PWWP,HMMSmart_SM00293,HMMPfam_DNA_methylase,superfamily_FYVE/PHD zinc finger,PatternScan_C5_MTASE_1,superfamily_S-adenosyl-L-methionine-dependent methyltransferases,superfamily_Tudor/PWWP/MBT - no_errors 28 16 36.36 10 21 65.62 25 28 52.83 +RAD21 0 genome.wustl.edu 37 8 117868935 117868935 + Nonsense_Mutation SNP A A T TCGA-AB-2975-03A-01D-0739-09 TCGA-AB-2975-11A-01D-0739-09 A A A T A A Verified Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq 1 dbGAP Illumina HiSeq 46b127f4-a3de-486c-8b90-d300ee13b182 07925c7f-550a-4728-908a-1ed34112da56 8 117938116 117938116 A T SNP RAD21 NM_006265.2 human genbank 54_36p -1 reviewed nonsense c.764 p.L255* 1.000 NULL HMMPfam_Rad21_Rec8,HMMPfam_Rad21_Rec8_N - no_errors 24 4 14.29 12 10 45.45 27 9 25.00 +MED14 0 genome.wustl.edu 37 X 40531148 40531148 + Missense_Mutation SNP T T C TCGA-AB-2976-03A-01D-0739-09 TCGA-AB-2976-11A-01D-0739-09 T T T C T T Verified Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq 1 dbGAP Illumina HiSeq 5bd15984-630f-46a9-a99e-0c24b26f2ed7 fc79912e-0c78-44d9-9951-4b2dfcd349c9 X 40416092 40416092 T C SNP MED14 NM_004229.3 human genbank 54_36p -1 reviewed missense c.3098 p.N1033S 0.797 NULL HMMPfam_MED14 - no_errors 885 121 12.03 86 1241 93.52 1 58 98.31 +PHF6 0 genome.wustl.edu 37 X 133547992 133547992 + Missense_Mutation SNP G G A TCGA-AB-2976-03A-01D-0739-09 TCGA-AB-2976-11A-01D-0739-09 G G G A G G Verified Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq 1 dbGAP Illumina HiSeq 5bd15984-630f-46a9-a99e-0c24b26f2ed7 fc79912e-0c78-44d9-9951-4b2dfcd349c9 X 133375658 133375658 G A SNP PHF6 NM_001015877.1 human genbank 54_36p +1 reviewed missense c.725 p.C242Y 1.000 NULL HMMSmart_SM00249,superfamily_FYVE/PHD zinc finger - no_errors 334 44 11.64 48 571 92.25 1 25 96.15 +TTC39A 0 genome.wustl.edu 37 1 51775086 51775086 + Missense_Mutation SNP C C A TCGA-AB-2976-03A-01D-0739-09 TCGA-AB-2976-11A-01D-0739-09 C C C A C C Verified Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq 1 dbGAP Illumina HiSeq 5bd15984-630f-46a9-a99e-0c24b26f2ed7 fc79912e-0c78-44d9-9951-4b2dfcd349c9 1 51547674 51547674 C A SNP TTC39A ENST00000371750 human ensembl 54_36p -1 known missense c.443 p.G148V 0.000 HMMPfam_Deme6 HMMPfam_Deme6,HMMSmart_SM00028,superfamily_TPR-like - no_errors 1137 54 4.53 415 385 48.06 NA NA NA +GATAD2B 0 genome.wustl.edu 37 1 153791329 153791329 + Nonsense_Mutation SNP G G A TCGA-AB-2976-03A-01D-0739-09 TCGA-AB-2976-11A-01D-0739-09 G G G A G G Verified Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq 1 dbGAP Illumina HiSeq 5bd15984-630f-46a9-a99e-0c24b26f2ed7 fc79912e-0c78-44d9-9951-4b2dfcd349c9 1 152057953 152057953 G A SNP GATAD2B NM_020699.2 human genbank 54_36p -1 validated nonsense c.535 p.R179* 1.000 NULL HMMPfam_GATA,PatternScan_GATA_ZN_FINGER_1,superfamily_SSF57716 - no_errors 1286 68 5.02 651 552 45.89 41 20 32.79 +MYOC 0 genome.wustl.edu 37 1 171621554 171621554 + Silent SNP C C T TCGA-AB-2976-03A-01D-0739-09 TCGA-AB-2976-11A-01D-0739-09 C C C T C C Verified Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq 1 dbGAP Illumina HiSeq 5bd15984-630f-46a9-a99e-0c24b26f2ed7 fc79912e-0c78-44d9-9951-4b2dfcd349c9 1 169888177 169888177 C T SNP MYOC NM_000261.1 human genbank 54_36p -1 reviewed silent c.198 p.Q66 0.450 NULL HMMPfam_OLF,HMMSmart_SM00284 - no_errors 1293 70 5.13 603 525 46.54 NA NA NA +TNR 0 genome.wustl.edu 37 1 175348815 175348815 + Silent SNP G G A TCGA-AB-2976-03A-01D-0739-09 TCGA-AB-2976-11A-01D-0739-09 G G G A G G Verified Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq 1 dbGAP Illumina HiSeq 5bd15984-630f-46a9-a99e-0c24b26f2ed7 fc79912e-0c78-44d9-9951-4b2dfcd349c9 1 173615438 173615438 G A SNP TNR NM_003285.2 human genbank 54_36p -1 validated silent c.1836 p.L612 0.635 HMMPfam_fn3,HMMSmart_SM00060,superfamily_Fibronectin type III HMMPfam_Fibrinogen_C,HMMSmart_SM00186,superfamily_Fibrinogen C-terminal domain-like,HMMPfam_fn3,HMMSmart_SM00060,HMMSmart_SM00181,superfamily_Fibronectin type III,PatternScan_EGF_1,PatternScan_EGF_2,HMMPfam_EGF_2,superfamily_EGF/Laminin - no_errors 1564 96 5.78 913 791 46.42 NA NA NA +FAM5C 0 genome.wustl.edu 37 1 190250762 190250762 + Missense_Mutation SNP T T A TCGA-AB-2976-03A-01D-0739-09 TCGA-AB-2976-11A-01D-0739-09 T T T A T T Verified Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq 1 dbGAP Illumina HiSeq 5bd15984-630f-46a9-a99e-0c24b26f2ed7 fc79912e-0c78-44d9-9951-4b2dfcd349c9 1 188517385 188517385 T A SNP FAM5C NM_199051.1 human genbank 54_36p -1 provisional missense c.355 p.T119S 1.000 HMMPfam_MACPF,HMMSmart_SM00457 HMMPfam_MACPF,HMMSmart_SM00457 - no_errors 772 49 5.95 616 498 44.62 NA NA NA +KLHL29 0 genome.wustl.edu 37 2 23926116 23926116 + Missense_Mutation SNP T T G TCGA-AB-2976-03A-01D-0739-09 TCGA-AB-2976-11A-01D-0739-09 T T T G T T Verified Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq 1 dbGAP Illumina HiSeq 5bd15984-630f-46a9-a99e-0c24b26f2ed7 fc79912e-0c78-44d9-9951-4b2dfcd349c9 2 23779620 23779620 T G SNP KLHL29 XM_001717454.1 human genbank 54_36p +1 model missense c.2975 p.L992R 0.898 HMMSmart_SM00612 HMMSmart_SM00225,HMMPfam_Kelch_1,HMMSmart_SM00612,superfamily_Galactose oxidase central domain,superfamily_POZ domain,HMMPfam_Kelch_2,HMMPfam_BACK,HMMPfam_BTB - pseudogene:no_stop_codon:bad_bp_length_for_coding_region 316 10 3.06748466257669 204 184 47.4226804123711 0 0 0.00 +BOC 0 genome.wustl.edu 37 3 112999443 112999443 + Silent SNP C C T TCGA-AB-2976-03A-01D-0739-09 TCGA-AB-2976-11A-01D-0739-09 C C C T C C Verified Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq 1 dbGAP Illumina HiSeq 5bd15984-630f-46a9-a99e-0c24b26f2ed7 fc79912e-0c78-44d9-9951-4b2dfcd349c9 3 114482133 114482133 C T SNP BOC NM_033254.2 human genbank 54_36p +1 validated silent c.2241 p.G747 0.996 HMMPfam_fn3,HMMSmart_SM00060,superfamily_Fibronectin type III PatternScan_N6_MTASE,HMMSmart_SM00408,HMMSmart_SM00409,HMMPfam_fn3,HMMSmart_SM00060,superfamily_Fibronectin type III,HMMPfam_I-set,HMMPfam_V-set,HMMPfam_ig,PatternScan_CYTOCHROME_P450,superfamily_Immunoglobulin - no_errors 683 71 9.40 546 354 39.33 0 3 100.00 +DAGLB 0 genome.wustl.edu 37 7 6461400 6461400 + Silent SNP C C T TCGA-AB-2976-03A-01D-0739-09 TCGA-AB-2976-11A-01D-0739-09 C C C T C C Verified Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq 1 dbGAP Illumina HiSeq 5bd15984-630f-46a9-a99e-0c24b26f2ed7 fc79912e-0c78-44d9-9951-4b2dfcd349c9 7 6427925 6427925 C T SNP DAGLB NM_139179.1 human genbank 54_36p -1 validated silent c.1176 p.V392 0.092 HMMPfam_Lipase_3,superfamily_alpha/beta-Hydrolases HMMPfam_Lipase_3,superfamily_alpha/beta-Hydrolases - no_errors 519 20 3.71057513914657 312 265 45.9272097053726 19 14 42.42 +SRCRB4D 0 genome.wustl.edu 37 7 76022791 76022791 + Missense_Mutation SNP C C T TCGA-AB-2976-03A-01D-0739-09 TCGA-AB-2976-11A-01D-0739-09 C C C T C C Verified Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq 1 dbGAP Illumina HiSeq 5bd15984-630f-46a9-a99e-0c24b26f2ed7 fc79912e-0c78-44d9-9951-4b2dfcd349c9 7 75860727 75860727 C T SNP SRCRB4D NM_080744.1 human genbank 54_36p -1 provisional missense c.1264 p.D422N 1.000 HMMPfam_SRCR,HMMSmart_SM00202,superfamily_SRCR-like HMMPfam_SRCR,PatternScan_SRCR_1,HMMSmart_SM00202,superfamily_SRCR-like - no_errors 326 20 5.78 132 135 50.37 NA NA NA +KCNQ3 0 genome.wustl.edu 37 8 133182665 133182665 + Missense_Mutation SNP C C T TCGA-AB-2976-03A-01D-0739-09 TCGA-AB-2976-11A-01D-0739-09 C C C T C C Verified Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq 1 dbGAP Illumina HiSeq 5bd15984-630f-46a9-a99e-0c24b26f2ed7 fc79912e-0c78-44d9-9951-4b2dfcd349c9 8 133251847 133251847 C T SNP KCNQ3 NM_004519.2 human genbank 54_36p -1 reviewed missense c.1151 p.R384K 1.000 NULL HMMPfam_Ion_trans,HMMPfam_KCNQ_channel,superfamily_SSF81324 - no_errors 634 35 5.23 435 413 48.70 NA NA NA +LOC100133655 0 genome.wustl.edu 37 9 23959362 23959362 + Missense_Mutation SNP G G A TCGA-AB-2976-03A-01D-0739-09 TCGA-AB-2976-11A-01D-0739-09 G G G A G G Verified Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq 1 dbGAP Illumina HiSeq 5bd15984-630f-46a9-a99e-0c24b26f2ed7 fc79912e-0c78-44d9-9951-4b2dfcd349c9 9 23949362 23949362 G A SNP LOC100133655 XM_001716507.1 human genbank 54_36p +1 model missense c.1672 p.A558T 0.000 NULL NULL - no_start_codon:pseudogene 371 14 3.63636363636364 189 180 48.780487804878 0 0 0.00 +TEK 0 genome.wustl.edu 37 9 27213572 27213572 + Missense_Mutation SNP G G A TCGA-AB-2976-03A-01D-0739-09 TCGA-AB-2976-11A-01D-0739-09 G G G A G G Verified Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq 1 dbGAP Illumina HiSeq 5bd15984-630f-46a9-a99e-0c24b26f2ed7 fc79912e-0c78-44d9-9951-4b2dfcd349c9 9 27203572 27203572 G A SNP TEK NM_000459.3 human genbank 54_36p +1 reviewed missense c.2968 p.E990K 1.000 HMMPfam_Pkinase_Tyr,HMMSmart_TyrKc,superfamily_Kinase_like HMMPfam_Pkinase_Tyr,HMMSmart_TyrKc,HMMPfam_fn3,HMMSmart_FN3,HMMSmart_EGF,PatternScan_PROTEIN_KINASE_TYR,superfamily_FN_III-like,superfamily_Kinase_like,PatternScan_EGF_1,PatternScan_EGF_2,HMMPfam_EGF_2,PatternScan_PROTEIN_KINASE_ATP,HMMPfam_Ig_Tie2_1,superfamily_SSF48726 - no_errors 1650 109 6.20 910 877 48.99 NA NA NA +OR4C15 0 genome.wustl.edu 37 11 55322668 55322668 + Missense_Mutation SNP C C T TCGA-AB-2976-03A-01D-0739-09 TCGA-AB-2976-11A-01D-0739-09 C C C T C C Verified Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq 1 dbGAP Illumina HiSeq 5bd15984-630f-46a9-a99e-0c24b26f2ed7 fc79912e-0c78-44d9-9951-4b2dfcd349c9 11 55079244 55079244 C T SNP OR4C15 NM_001001920.1 human genbank 54_36p +1 provisional missense c.886 p.H296Y 0.975 HMMPfam_7tm_1,superfamily_Family A G protein-coupled receptor-like HMMPfam_7tm_1,PatternScan_G_PROTEIN_RECEP_F1_1,PatternScan_LECTIN_LEGUME_ALPHA,superfamily_Family A G protein-coupled receptor-like - no_errors 1914 108 5.34 1564 1401 47.25 NA NA NA +PRR13 0 genome.wustl.edu 37 12 53839828 53839828 + Silent SNP C C T TCGA-AB-2976-03A-01D-0739-09 TCGA-AB-2976-11A-01D-0739-09 C C C T C C Verified Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq 1 dbGAP Illumina HiSeq 5bd15984-630f-46a9-a99e-0c24b26f2ed7 fc79912e-0c78-44d9-9951-4b2dfcd349c9 12 52126095 52126095 C T SNP PRR13 NM_018457.2 human genbank 54_36p +1 validated silent c.432 p.S144 1.000 NULL NULL - no_errors 422 37 8.06 163 186 53.14 86 84 49.41 +ANKRD13A 0 genome.wustl.edu 37 12 110471685 110471685 + Missense_Mutation SNP G G A TCGA-AB-2976-03A-01D-0739-09 TCGA-AB-2976-11A-01D-0739-09 G G G A G G Verified Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq 1 dbGAP Illumina HiSeq 5bd15984-630f-46a9-a99e-0c24b26f2ed7 fc79912e-0c78-44d9-9951-4b2dfcd349c9 12 108956068 108956068 G A SNP ANKRD13A NM_033121.1 human genbank 54_36p +1 validated missense c.1432 p.V478M 0.364 NULL HMMPfam_Ank,HMMSmart_SM00248,superfamily_Ankyrin repeat,HMMPfam_UIM,HMMSmart_SM00726 - no_errors 1762 119 6.33 724 594 45.03 39 38 49.35 +DDHD1 0 genome.wustl.edu 37 14 53529750 53529750 + Silent SNP C C T TCGA-AB-2976-03A-01D-0739-09 TCGA-AB-2976-11A-01D-0739-09 C C C T C C Verified Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq 1 dbGAP Illumina HiSeq 5bd15984-630f-46a9-a99e-0c24b26f2ed7 fc79912e-0c78-44d9-9951-4b2dfcd349c9 14 52599500 52599500 C T SNP DDHD1 NM_030637.1 human genbank 54_36p -1 provisional silent c.1677 p.L559 1.000 NULL HMMPfam_DDHD - no_errors 1050 78 6.91 924 818 46.96 25 11 30.56 +SKOR1 0 genome.wustl.edu 37 15 68118536 68118536 + Missense_Mutation SNP G G T TCGA-AB-2976-03A-01D-0739-09 TCGA-AB-2976-11A-01D-0739-09 G G G T G G Verified Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq 1 dbGAP Illumina HiSeq 5bd15984-630f-46a9-a99e-0c24b26f2ed7 fc79912e-0c78-44d9-9951-4b2dfcd349c9 15 65905590 65905590 G T SNP LBXCOR1 NM_001031807.1 human genbank 54_36p +1 provisional missense c.343 p.G115C 1.000 HMMPfam_Ski_Sno,superfamily_Putativ_DNA_bind HMMPfam_Ski_Sno,superfamily_Putativ_DNA_bind,superfamily_SAND_like,HMMPfam_c-SKI_SMAD_bind - no_errors 392 20 4.85436893203883 269 204 43.1289640591966 NA NA NA +SEMA7A 0 genome.wustl.edu 37 15 74706985 74706985 + Silent SNP C C T TCGA-AB-2976-03A-01D-0739-09 TCGA-AB-2976-11A-01D-0739-09 C C C T C C Verified Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq 1 dbGAP Illumina HiSeq 5bd15984-630f-46a9-a99e-0c24b26f2ed7 fc79912e-0c78-44d9-9951-4b2dfcd349c9 15 72494038 72494038 C T SNP SEMA7A NM_003612.1 human genbank 54_36p -1 reviewed silent c.1197 p.T399 0.001 HMMPfam_Sema,HMMSmart_Sema,superfamily_Sema HMMPfam_Sema,HMMSmart_Sema,superfamily_Sema,HMMPfam_PSI,HMMSmart_IG,HMMSmart_PSI,superfamily_Plexin-like_fold,superfamily_SSF48726 - no_errors 649 62 8.71 196 156 44.19 10 8 44.44 +SDK2 0 genome.wustl.edu 37 17 71397162 71397162 + Missense_Mutation SNP G G T TCGA-AB-2976-03A-01D-0739-09 TCGA-AB-2976-11A-01D-0739-09 G G G T G G Verified Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq 1 dbGAP Illumina HiSeq 5bd15984-630f-46a9-a99e-0c24b26f2ed7 fc79912e-0c78-44d9-9951-4b2dfcd349c9 17 68908757 68908757 G T SNP SDK2 ENST00000334543 human ensembl 54_36p -1 known missense c.2005 p.P669T 1.000 superfamily_FN_III-like HMMSmart_IGc2,HMMSmart_IG,HMMPfam_fn3,HMMSmart_FN3,superfamily_FN_III-like,HMMPfam_I-set,HMMPfam_ig,superfamily_SSF48726 - no_errors 778 61 7.27 258 263 50.38 0 1 100.00 +NPM1 0 genome.wustl.edu 37 5 170837547 170837548 + Frame_Shift_Ins INS - - CATG TCGA-AB-2976-03A-01D-0739-09 TCGA-AB-2976-11A-01D-0739-09 - - - CATG - - Verified Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq 1 dbGAP Illumina HiSeq 5bd15984-630f-46a9-a99e-0c24b26f2ed7 fc79912e-0c78-44d9-9951-4b2dfcd349c9 5 170770152 170770153 - CATG INS NPM1 NM_002520.1 human genbank 54_36p +1 validated frame_shift_ins c.863_864 p.W288fs 1.000:1.000 NULL HMMPfam_Nucleoplasmin,superfamily_Nucleoplasmin-like core domain - no_errors NA NA NA NA NA NA NA NA NA +WT1 0 genome.wustl.edu 37 11 32417909 32417910 + Frame_Shift_Ins INS - - GACCG TCGA-AB-2976-03A-01D-0739-09 TCGA-AB-2976-11A-01D-0739-09 - - - GACCG - - Verified Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq 1 dbGAP Illumina HiSeq 5bd15984-630f-46a9-a99e-0c24b26f2ed7 fc79912e-0c78-44d9-9951-4b2dfcd349c9 11 32374485 32374486 - GACCG INS WT1 NM_024426.3 human genbank 54_36p -1 reviewed frame_shift_ins c.1143_1142 p.A382fs 0.771:0.996 HMMPfam_WT1 HMMPfam_WT1,HMMPfam_zf-C2H2,PatternScan_ZINC_FINGER_C2H2_1,HMMSmart_SM00355,superfamily_C2H2 and C2HC zinc fingers - no_errors 430 10 2.27272727272727 267 178 40 NA NA NA +FLT3 0 genome.wustl.edu 37 13 28608256 28608257 + In_Frame_Ins INS - - TCATATTCATATTCATATTCATAT TCGA-AB-2976-03A-01D-0739-09 TCGA-AB-2976-11A-01D-0739-09 - - - TCATATTCATATTCATATTCATAT - - Verified Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq 1 dbGAP Illumina HiSeq 5bd15984-630f-46a9-a99e-0c24b26f2ed7 fc79912e-0c78-44d9-9951-4b2dfcd349c9 13 27506256 27506257 - TCATATTCATATTCATATTCATAT INS FLT3 NM_004119.2 human genbank 54_36p -1 reviewed in_frame_ins c.1800_1799 p.600in_frame_insEYEYEYEY 0.998:1.000 superfamily_Kinase_like HMMPfam_Pkinase_Tyr,HMMSmart_TyrKc,PatternScan_RECEPTOR_TYR_KIN_III,PatternScan_PROTEIN_KINASE_TYR,superfamily_Kinase_like,HMMPfam_ig,PatternScan_PROTEIN_KINASE_ATP,superfamily_SSF48726 - no_errors 449 4 0.883002207505519 288 106 26.9035532994924 NA NA NA +LRRC37B 0 genome.wustl.edu 37 17 30377109 30377110 + Frame_Shift_Ins INS - - T TCGA-AB-2976-03A-01D-0739-09 TCGA-AB-2976-11A-01D-0739-09 - - - T - - Verified Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq 1 dbGAP Illumina HiSeq 5bd15984-630f-46a9-a99e-0c24b26f2ed7 fc79912e-0c78-44d9-9951-4b2dfcd349c9 17 27401222 27401223 - T INS LRRC37B NM_052888.2 human genbank 54_36p +1 validated frame_shift_ins c.2764_2765 p.C924fs 0.201:0.224 NULL HMMPfam_LRR_1,HMMSmart_SM00369,superfamily_L domain-like - no_errors 988 56 5.36 560 1 0.18 9 9 50.00 +MIR891A 0 genome.wustl.edu 37 X 145109390 145109390 + RNA SNP G G T TCGA-AB-2977-03A-01D-0739-09 TCGA-AB-2977-11A-01D-0739-09 G G G T G G Verified Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq 1 dbGAP Illumina HiSeq 56189e90-e223-4523-b613-10df5b2eb23d 4992751b-33fc-4136-bcbc-564c6854cef3 X 144917082 144917082 G T SNP MIRN891A ENST00000401237 human ensembl 54_36p -1 known rna NULL NULL 0.001 - - - no_errors 312 41 11.61 376 280 42.62 NA NA NA +PLCH2 0 genome.wustl.edu 37 1 2418350 2418350 + Missense_Mutation SNP C C T TCGA-AB-2977-03A-01D-0739-09 TCGA-AB-2977-11A-01D-0739-09 C C C T C C Verified Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq 1 dbGAP Illumina HiSeq 56189e90-e223-4523-b613-10df5b2eb23d 4992751b-33fc-4136-bcbc-564c6854cef3 1 2408210 2408210 C T SNP PLCH2 NM_014638.2 human genbank 54_36p +1 provisional missense c.821 p.A274V 0.000 HMMPfam_efhand_like,superfamily_EF-hand HMMPfam_C2,HMMSmart_SM00239,HMMPfam_PI-PLC-X,HMMSmart_SM00148,HMMPfam_PI-PLC-Y,HMMSmart_SM00149,HMMPfam_PH,HMMSmart_SM00233,HMMSmart_SM00054,superfamily_C2 domain (Calcium/lipid-binding domain CaLB),HMMPfam_efhand_like,superfamily_PLC-like phosphodiesterases,PatternScan_EF_HAND_1,HMMPfam_efhand,superfamily_EF-hand,superfamily_PH domain-like - no_errors 67 7 9.46 39 38 49.35 4 0 0.00 +LOC645949 0 genome.wustl.edu 37 2 21934104 21934104 + RNA SNP T T A TCGA-AB-2977-03A-01D-0739-09 TCGA-AB-2977-11A-01D-0739-09 T T T A T T Verified Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq 1 dbGAP Illumina HiSeq 56189e90-e223-4523-b613-10df5b2eb23d 4992751b-33fc-4136-bcbc-564c6854cef3 2 21787609 21787609 T A SNP LOC645949 XR_040569.1 human genbank 54_36p -1 model rna NULL NULL 0.001 - - - no_errors 217 37 14.51 364 345 48.66 NA NA NA +TTN 0 genome.wustl.edu 37 2 179402121 179402121 + Missense_Mutation SNP C C T TCGA-AB-2977-03A-01D-0739-09 TCGA-AB-2977-11A-01D-0739-09 C C C T C C Verified Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq 1 dbGAP Illumina HiSeq 56189e90-e223-4523-b613-10df5b2eb23d 4992751b-33fc-4136-bcbc-564c6854cef3 2 179110367 179110367 C T SNP TTN NM_133378.3 human genbank 54_36p -1 reviewed missense c.92108 p.S30703N 0.999 NULL superfamily_Ypt/Rab-GAP domain of gyp1p,PatternScan_RCC1_2,PatternScan_IG_MHC,HMMSmart_SM00406,HMMSmart_SM00408,HMMSmart_SM00409,HMMPfam_fn3,HMMSmart_SM00060,HMMPfam_PPAK,superfamily_Fibronectin type III,HMMPfam_I-set,HMMPfam_ig,HMMPfam_Titin_Z,superfamily_Immunoglobulin,superfamily_vWA-like,superfamily_beta-sandwich domain of Sec23/24 - pseudogene:no_stop_codon:bad_bp_length_for_coding_region 219 45 17.05 348 354 50.43 NA NA NA +IDH1 0 genome.wustl.edu 37 2 209113113 209113113 + Missense_Mutation SNP G G A rs121913499 TCGA-AB-2977-03A-01D-0739-09 TCGA-AB-2977-11A-01D-0739-09 G G G A G G Verified Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq 1 dbGAP Illumina HiSeq 56189e90-e223-4523-b613-10df5b2eb23d 4992751b-33fc-4136-bcbc-564c6854cef3 2 208821358 208821358 G A SNP IDH1 NM_005896.2 human genbank 54_36p -1 reviewed missense c.394 p.R132C 1.000 HMMPfam_Iso_dh,superfamily_Isocitrate/Isopropylmalate dehydrogenase-like HMMPfam_Iso_dh,PatternScan_IDH_IMDH,superfamily_Isocitrate/Isopropylmalate dehydrogenase-like - no_errors 270 38 12.34 197 141 41.59 22 30 57.69 +ZNF721 0 genome.wustl.edu 37 4 437878 437878 + Silent SNP T T C TCGA-AB-2977-03A-01D-0739-09 TCGA-AB-2977-11A-01D-0739-09 T T T C T T Verified Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq 1 dbGAP Illumina HiSeq 56189e90-e223-4523-b613-10df5b2eb23d 4992751b-33fc-4136-bcbc-564c6854cef3 4 427878 427878 T C SNP ZNF721 NM_133474.2 human genbank 54_36p -1 validated silent c.378 p.Q126 0.017 HMMPfam_zf-C2H2,PatternScan_ZINC_FINGER_C2H2_1,HMMSmart_SM00355,superfamily_C2H2 and C2HC zinc fingers HMMPfam_zf-C2H2,PatternScan_ZINC_FINGER_C2H2_1,HMMSmart_SM00355,superfamily_C2H2 and C2HC zinc fingers - no_errors 260 19 6.79 267 220 45.17 3 0 0.00 +FBXL7 0 genome.wustl.edu 37 5 15936890 15936890 + Silent SNP C C T TCGA-AB-2977-03A-01D-0739-09 TCGA-AB-2977-11A-01D-0739-09 C C C T C C Verified Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq 1 dbGAP Illumina HiSeq 56189e90-e223-4523-b613-10df5b2eb23d 4992751b-33fc-4136-bcbc-564c6854cef3 5 15989890 15989890 C T SNP FBXL7 NM_012304.3 human genbank 54_36p +1 reviewed silent c.1071 p.I357 1.000 HMMSmart_SM00367,superfamily_RNI-like HMMPfam_F-box,HMMSmart_SM00256,HMMSmart_SM00367,superfamily_RNI-like - no_errors 184 25 11.85 206 169 44.47 NA NA NA +GPR98 0 genome.wustl.edu 37 5 89925318 89925318 + Missense_Mutation SNP G G A TCGA-AB-2977-03A-01D-0739-09 TCGA-AB-2977-11A-01D-0739-09 G G G A G G Verified Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq 1 dbGAP Illumina HiSeq 56189e90-e223-4523-b613-10df5b2eb23d 4992751b-33fc-4136-bcbc-564c6854cef3 5 89961074 89961074 G A SNP GPR98 NM_032119.3 human genbank 54_36p +1 reviewed missense c.1801 p.D601N 1.000 NULL HMMPfam_GPS,PatternScan_LIPOYL,HMMPfam_Calx-beta,HMMSmart_SM00237,HMMPfam_EPTP,PatternScan_A_DEAMINASE,superfamily_Concanavalin A-like lectins/glucanases - no_errors 232 31 11.79 334 226 40.36 NA NA NA +OR5AR1 0 genome.wustl.edu 37 11 56431699 56431699 + Missense_Mutation SNP G G A TCGA-AB-2977-03A-01D-0739-09 TCGA-AB-2977-11A-01D-0739-09 G G G A G G Verified Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq 1 dbGAP Illumina HiSeq 56189e90-e223-4523-b613-10df5b2eb23d 4992751b-33fc-4136-bcbc-564c6854cef3 11 56188275 56188275 G A SNP OR5AR1 NM_001004730.1 human genbank 54_36p +1 provisional missense c.538 p.E180K 1.000 HMMPfam_7tm_1,superfamily_SSF81321 HMMPfam_7tm_1,PatternScan_G_PROTEIN_RECEP_F1_1,superfamily_SSF81321 - no_errors 214 34 13.71 539 426 44.05 NA NA NA +RIN1 0 genome.wustl.edu 37 11 66103116 66103116 + Silent SNP G G A TCGA-AB-2977-03A-01D-0739-09 TCGA-AB-2977-11A-01D-0739-09 G G G A G G Verified Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq 1 dbGAP Illumina HiSeq 56189e90-e223-4523-b613-10df5b2eb23d 4992751b-33fc-4136-bcbc-564c6854cef3 11 65859692 65859692 G A SNP RIN1 NM_004292.2 human genbank 54_36p -1 validated silent c.420 p.D140 1.000 HMMSmart_SM00252,superfamily_SH2 domain HMMPfam_RA,HMMSmart_SM00314,HMMSmart_SM00252,HMMPfam_VPS9,HMMSmart_SM00167,superfamily_VPS9 domain (Pfam 02204),superfamily_SH2 domain - no_errors 199 37 15.68 86 79 47.88 5 1 16.67 +LOC441644 0 genome.wustl.edu 37 12 94534100 94534100 + Missense_Mutation SNP C C T TCGA-AB-2977-03A-01D-0739-09 TCGA-AB-2977-11A-01D-0739-09 C C C T C C Verified Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq 1 dbGAP Illumina HiSeq 56189e90-e223-4523-b613-10df5b2eb23d 4992751b-33fc-4136-bcbc-564c6854cef3 12 93058231 93058231 C T SNP LOC441644 XM_001714973.1 human genbank 54_36p +1 model missense c.158 p.T53M 1.000 HMMPfam_ELM2 HMMPfam_ELM2 - no_errors 101 14 12.17 149 95 38.93 NA NA NA +KIAA0226L 0 genome.wustl.edu 37 13 46946148 46946148 + Missense_Mutation SNP C C T TCGA-AB-2977-03A-01D-0739-09 TCGA-AB-2977-11A-01D-0739-09 C C C T C C Verified Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq 1 dbGAP Illumina HiSeq 56189e90-e223-4523-b613-10df5b2eb23d 4992751b-33fc-4136-bcbc-564c6854cef3 13 45844149 45844149 C T SNP C13orf18 NM_025113.2 human genbank 54_36p -1 validated missense c.463 p.A155T 0.001 NULL NULL - no_errors 282 35 10.97 387 309 44.21 NA NA NA +ATP6AP2 0 genome.wustl.edu 37 X 40456845 40456845 + Missense_Mutation SNP C C T TCGA-AB-2978-03A-01D-0739-09 TCGA-AB-2978-11A-01D-0739-09 C C C T C C Verified Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq 1 dbGAP Illumina HiSeq 960efb3b-7c3b-42ec-8f29-011d13493c69 be9d0262-d1fa-48c4-bba6-0d5415fb9b52 X 40341789 40341789 C T SNP ATP6AP2 NM_005765.2 human genbank 54_36p +1 reviewed missense c.463 p.R155C 1.000 NULL HMMPfam_Renin_r - no_errors 810 30 3.57 36 13 26.53 130 0 0.00 +SYTL4 0 genome.wustl.edu 37 X 99936232 99936232 + Missense_Mutation SNP C C T TCGA-AB-2978-03A-01D-0739-09 TCGA-AB-2978-11A-01D-0739-09 C C C T C C Verified Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq 1 dbGAP Illumina HiSeq 960efb3b-7c3b-42ec-8f29-011d13493c69 be9d0262-d1fa-48c4-bba6-0d5415fb9b52 X 99822888 99822888 C T SNP SYTL4 NM_080737.1 human genbank 54_36p -1 validated missense c.1550 p.R517Q 0.989 superfamily_C2 domain (Calcium/lipid-binding domain CaLB) HMMPfam_C2,HMMSmart_SM00239,HMMPfam_RPH3A_effector,superfamily_C2 domain (Calcium/lipid-binding domain CaLB),superfamily_FYVE/PHD zinc finger - no_errors 640 2 0.31 105 51 32.69 2 0 0.00 +STAG2 0 genome.wustl.edu 37 X 123220476 123220476 + Nonsense_Mutation SNP C C T TCGA-AB-2978-03A-01D-0739-09 TCGA-AB-2978-11A-01D-0739-09 C C C T C C Verified Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq 1 dbGAP Illumina HiSeq 960efb3b-7c3b-42ec-8f29-011d13493c69 be9d0262-d1fa-48c4-bba6-0d5415fb9b52 X 123048157 123048157 C T SNP STAG2 NM_001042749.1 human genbank 54_36p +1 validated nonsense c.3133 p.R1045* 1.000 superfamily_ARM-type_fold HMMPfam_STAG,superfamily_ARM-type_fold - no_errors 989 14 1.40 145 37 20.33 6 10 62.50 +PRKAA2 0 genome.wustl.edu 37 1 57161723 57161723 + Nonsense_Mutation SNP C C T TCGA-AB-2978-03A-01D-0739-09 TCGA-AB-2978-11A-01D-0739-09 C C C T C C Verified Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq 1 dbGAP Illumina HiSeq 960efb3b-7c3b-42ec-8f29-011d13493c69 be9d0262-d1fa-48c4-bba6-0d5415fb9b52 1 56934311 56934311 C T SNP PRKAA2 NM_006252.3 human genbank 54_36p +1 validated nonsense c.679 p.R227* 1.000 HMMSmart_S_TKc,superfamily_Kinase_like,HMMPfam_Pkinase HMMSmart_S_TKc,PatternScan_PROTEIN_KINASE_ST,superfamily_Kinase_like,PatternScan_PROTEIN_KINASE_ATP,HMMPfam_Pkinase - no_errors 838 25 2.90 194 192 49.74 NA NA NA +NRAS 0 genome.wustl.edu 37 1 115256529 115256529 + Missense_Mutation SNP T T G rs11554290 TCGA-AB-2978-03A-01D-0739-09 TCGA-AB-2978-11A-01D-0739-09 T T T G T T Verified Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq 1 dbGAP Illumina HiSeq 960efb3b-7c3b-42ec-8f29-011d13493c69 be9d0262-d1fa-48c4-bba6-0d5415fb9b52 1 115058052 115058052 T G SNP NRAS NM_002524.3 human genbank 54_36p -1 reviewed missense c.182 p.Q61P 1.000 HMMSmart_SM00173,HMMSmart_SM00174,HMMSmart_SM00175,HMMPfam_Ras,superfamily_P-loop containing nucleoside triphosphate hydrolases HMMSmart_SM00173,HMMSmart_SM00174,HMMSmart_SM00175,HMMPfam_Ras,superfamily_P-loop containing nucleoside triphosphate hydrolases - no_errors 749 9 1.19 69 23 25.00 23 15 39.47 +TET2 0 genome.wustl.edu 37 4 106196213 106196213 + Nonsense_Mutation SNP C C T TCGA-AB-2978-03A-01D-0739-09 TCGA-AB-2978-11A-01D-0739-09 C C C T C C Verified Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq 1 dbGAP Illumina HiSeq 960efb3b-7c3b-42ec-8f29-011d13493c69 be9d0262-d1fa-48c4-bba6-0d5415fb9b52 4 106415662 106415662 C T SNP TET2 ENST00000265149 human ensembl 54_36p +1 known nonsense c.952 p.R318* 0.992 NULL NULL - no_start_codon 881 34 3.72 360 248 40.79 12 15 55.56 +HOOK3 0 genome.wustl.edu 37 8 42823287 42823287 + Missense_Mutation SNP C C G TCGA-AB-2978-03A-01D-0739-09 TCGA-AB-2978-11A-01D-0739-09 C C C G C C Verified Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq 1 dbGAP Illumina HiSeq 960efb3b-7c3b-42ec-8f29-011d13493c69 be9d0262-d1fa-48c4-bba6-0d5415fb9b52 8 42942444 42942444 C G SNP HOOK3 NM_032410.3 human genbank 54_36p +1 validated missense c.1052 p.T351S 1.000 HMMPfam_HOOK HMMPfam_HOOK - no_errors 758 33 4.17 65 49 42.98 15 13 46.43 +PXDNL 0 genome.wustl.edu 37 8 52321633 52321633 + Missense_Mutation SNP C C T TCGA-AB-2978-03A-01D-0739-09 TCGA-AB-2978-11A-01D-0739-09 C C C T C C Verified Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq 1 dbGAP Illumina HiSeq 960efb3b-7c3b-42ec-8f29-011d13493c69 be9d0262-d1fa-48c4-bba6-0d5415fb9b52 8 52484186 52484186 C T SNP PXDNL NM_144651.4 human genbank 54_36p -1 validated missense c.2551 p.D851N 0.996 HMMPfam_An_peroxidase,superfamily_Heme-dependent peroxidases HMMPfam_LRRCT,HMMSmart_SM00082,HMMPfam_VWC,HMMSmart_SM00214,PatternScan_VWFC_1,HMMPfam_LRR_1,HMMPfam_An_peroxidase,HMMSmart_SM00369,HMMSmart_SM00408,HMMSmart_SM00409,superfamily_Heme-dependent peroxidases,HMMPfam_I-set,superfamily_Immunoglobulin,superfamily_L domain-like - no_errors 249 4 1.58 40 21 34.43 NA NA NA +OR51L1 0 genome.wustl.edu 37 11 5020927 5020927 + Missense_Mutation SNP G G A TCGA-AB-2978-03A-01D-0739-09 TCGA-AB-2978-11A-01D-0739-09 G G G A G G Verified Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq 1 dbGAP Illumina HiSeq 960efb3b-7c3b-42ec-8f29-011d13493c69 be9d0262-d1fa-48c4-bba6-0d5415fb9b52 11 4977503 4977503 G A SNP OR51L1 NM_001004755.1 human genbank 54_36p +1 provisional missense c.715 p.A239T 0.995 HMMPfam_7tm_1,superfamily_SSF81321 HMMPfam_7tm_1,PatternScan_G_PROTEIN_RECEP_F1_1,superfamily_SSF81321 - no_errors 902 35 3.74 210 82 28.08 NA NA NA +OR5M1 0 genome.wustl.edu 37 11 56380881 56380881 + Missense_Mutation SNP G G A TCGA-AB-2978-03A-01D-0739-09 TCGA-AB-2978-11A-01D-0739-09 G G G A G G Verified Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq 1 dbGAP Illumina HiSeq 960efb3b-7c3b-42ec-8f29-011d13493c69 be9d0262-d1fa-48c4-bba6-0d5415fb9b52 11 56137457 56137457 G A SNP OR5M1 NM_001004740.1 human genbank 54_36p -1 provisional missense c.98 p.A33V 0.053 superfamily_SSF81321 HMMPfam_7tm_1,PatternScan_G_PROTEIN_RECEP_F1_1,superfamily_SSF81321 - no_errors 811 9 1.10 114 37 24.50 NA NA NA +CBL 0 genome.wustl.edu 37 11 119168130 119168130 + Silent SNP G G A TCGA-AB-2978-03A-01D-0739-09 TCGA-AB-2978-11A-01D-0739-09 G G G A G G Verified Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq 1 dbGAP Illumina HiSeq 960efb3b-7c3b-42ec-8f29-011d13493c69 be9d0262-d1fa-48c4-bba6-0d5415fb9b52 11 118673340 118673340 G A SNP CBL NM_005188.2 human genbank 54_36p +1 reviewed silent c.2190 p.T730 0.666 NULL HMMPfam_UBA,HMMSmart_RING,HMMPfam_Cbl_N,superfamily_Adaptor_Cbl_N,HMMPfam_Cbl_N2,HMMPfam_Cbl_N3,HMMSmart_UBA,PatternScan_ZF_RING_1,HMMPfam_zf-C3HC4,superfamily_SSF47473,superfamily_SSF55550,superfamily_SSF57850 - no_errors 528 11 2.04 90 35 28.00 17 9 34.62 +RASSF9 0 genome.wustl.edu 37 12 86199196 86199196 + Missense_Mutation SNP G G T TCGA-AB-2978-03A-01D-0739-09 TCGA-AB-2978-11A-01D-0739-09 G G G T G G Verified Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq 1 dbGAP Illumina HiSeq 960efb3b-7c3b-42ec-8f29-011d13493c69 be9d0262-d1fa-48c4-bba6-0d5415fb9b52 12 84723327 84723327 G T SNP RASSF9 NM_005447.3 human genbank 54_36p -1 reviewed missense c.592 p.H198N 1.000 NULL HMMSmart_SM00314 - no_errors 535 4 0.74 110 32 22.54 NA NA NA +DOCK9 0 genome.wustl.edu 37 13 99457268 99457268 + Missense_Mutation SNP G G A TCGA-AB-2978-03A-01D-0739-09 TCGA-AB-2978-11A-01D-0739-09 G G G A G G Verified Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq 1 dbGAP Illumina HiSeq 960efb3b-7c3b-42ec-8f29-011d13493c69 be9d0262-d1fa-48c4-bba6-0d5415fb9b52 13 98255269 98255269 G A SNP DOCK9 NM_015296.1 human genbank 54_36p -1 validated missense c.5755 p.R1919C 1.000 HMMPfam_Ded_cyto HMMPfam_PH,HMMSmart_SM00233,HMMPfam_Ded_cyto,superfamily_PH domain-like - no_errors 531 25 4.49 85 51 37.50 1 0 0.00 +OR4H12P 0 genome.wustl.edu 37 14 20228603 20228603 + Missense_Mutation SNP G G A TCGA-AB-2978-03A-01D-0739-09 TCGA-AB-2978-11A-01D-0739-09 G G G A G G Verified Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq 1 dbGAP Illumina HiSeq 960efb3b-7c3b-42ec-8f29-011d13493c69 be9d0262-d1fa-48c4-bba6-0d5415fb9b52 14 19298443 19298443 G A SNP OR4H12P ENST00000316004 human ensembl 54_36p +1 known missense c.535 p.A179T 0.012 HMMPfam_7tm_1,superfamily_SSF81321 HMMPfam_7tm_1,PatternScan_G_PROTEIN_RECEP_F1_1,superfamily_SSF81321 - no_errors 743 17 2.23 129 37 22.29 NA NA NA +DNAH9 0 genome.wustl.edu 37 17 11642257 11642257 + Missense_Mutation SNP G G A TCGA-AB-2978-03A-01D-0739-09 TCGA-AB-2978-11A-01D-0739-09 G G G A G G Verified Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq 1 dbGAP Illumina HiSeq 960efb3b-7c3b-42ec-8f29-011d13493c69 be9d0262-d1fa-48c4-bba6-0d5415fb9b52 17 11582982 11582982 G A SNP DNAH9 NM_001372.3 human genbank 54_36p +1 reviewed missense c.5875 p.E1959K 1.000 HMMSmart_SM00382,superfamily_P-loop containing nucleoside triphosphate hydrolases HMMSmart_SM00382,HMMPfam_Dynein_heavy,PatternScan_CPSASE_2,HMMPfam_AAA_5,HMMPfam_DHC_N1,HMMPfam_DHC_N2,superfamily_Spectrin repeat,superfamily_P-loop containing nucleoside triphosphate hydrolases - no_errors 814 19 2.28 190 167 46.78 NA NA NA +U2AF1L4 0 genome.wustl.edu 37 19 36234765 36234765 + Nonsense_Mutation SNP G G T TCGA-AB-2978-03A-01D-0739-09 TCGA-AB-2978-11A-01D-0739-09 G G G T G G Verified Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq 1 dbGAP Illumina HiSeq 960efb3b-7c3b-42ec-8f29-011d13493c69 be9d0262-d1fa-48c4-bba6-0d5415fb9b52 19 40926605 40926605 G T SNP U2AF1L4 NM_144987.1 human genbank 54_36p -1 validated nonsense c.348 p.C116* 0.996 NULL HMMPfam_zf-CCCH,HMMSmart_RRM_1,superfamily_SSF54928 - no_errors 309 10 3.13 49 30 37.97 3 5 62.50 +CEACAM19 0 genome.wustl.edu 37 19 45184539 45184539 + Silent SNP C C A TCGA-AB-2978-03A-01D-0739-09 TCGA-AB-2978-11A-01D-0739-09 C C C A C C Verified Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq 1 dbGAP Illumina HiSeq 960efb3b-7c3b-42ec-8f29-011d13493c69 be9d0262-d1fa-48c4-bba6-0d5415fb9b52 19 49876379 49876379 C A SNP CEACAM19 NM_020219.1 human genbank 54_36p +1 validated silent c.747 p.L249 0.676 NULL superfamily_Immunoglobulin - no_errors 729 24 3.18 59 39 39.80 2 3 60.00 +RUNX1 0 genome.wustl.edu 37 21 36231783 36231783 + Nonsense_Mutation SNP G G A TCGA-AB-2978-03A-01D-0739-09 TCGA-AB-2978-11A-01D-0739-09 G G G A G G Verified Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq 1 dbGAP Illumina HiSeq 960efb3b-7c3b-42ec-8f29-011d13493c69 be9d0262-d1fa-48c4-bba6-0d5415fb9b52 21 35153653 35153653 G A SNP RUNX1 NM_001754.2 human genbank 54_36p -1 reviewed nonsense c.601 p.R201* 1.000 superfamily_p53-like transcription factors,HMMPfam_Runt superfamily_p53-like transcription factors,HMMPfam_Runt,HMMPfam_RunxI - no_errors 519 8 1.52 25 22 46.81 216 53 19.63 +TET2 0 genome.wustl.edu 37 4 106183007 106183008 + Splice_Site INS - - T TCGA-AB-2978-03A-01D-0739-09 TCGA-AB-2978-11A-01D-0739-09 - - - T - - Verified Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq 1 dbGAP Illumina HiSeq 960efb3b-7c3b-42ec-8f29-011d13493c69 be9d0262-d1fa-48c4-bba6-0d5415fb9b52 4 106402456 106402457 - T INS TET2 ENST00000265149 human ensembl 54_36p +1 known splice_site_ins c.450+2_450+1 e3+2 1.000:0.991 - - - no_start_codon 384 0 0.00 83 0 0.00 6 0 0.00 +ZYG11A 0 genome.wustl.edu 37 1 53329692 53329692 + Nonsense_Mutation SNP C C T TCGA-AB-2979-03A-01D-0739-09 TCGA-AB-2979-11A-01D-0739-09 C C C T C C Verified Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq 1 dbGAP Illumina HiSeq 16f3a01d-16b0-4405-bab7-1e22fdeb0b24 79b57153-6800-44e6-9f71-4e7323b04470 1 53102280 53102280 C T SNP ZYG11A XM_001133615.1 human genbank 54_36p +1 model nonsense c.1189 p.R397* 0.996 NULL superfamily_ARM repeat,superfamily_RNI-like - no_errors 578 6 1.03 534 104 16.30 NA NA NA +GBP4 0 genome.wustl.edu 37 1 89652147 89652147 + Missense_Mutation SNP C C T TCGA-AB-2979-03A-01D-0739-09 TCGA-AB-2979-11A-01D-0739-09 C C C T C C Verified Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq 1 dbGAP Illumina HiSeq 16f3a01d-16b0-4405-bab7-1e22fdeb0b24 79b57153-6800-44e6-9f71-4e7323b04470 1 89424735 89424735 C T SNP GBP4 NM_052941.4 human genbank 54_36p -1 validated missense c.1576 p.E526K 0.530 HMMPfam_GBP_C,superfamily_GBP HMMPfam_GBP_C,HMMPfam_GBP,superfamily_GBP,superfamily_SSF52540 - no_errors 1470 24 1.60 1485 717 32.53 8 8 50.00 +KCNA3 0 genome.wustl.edu 37 1 111216736 111216736 + Silent SNP C C T TCGA-AB-2979-03A-01D-0739-09 TCGA-AB-2979-11A-01D-0739-09 C C C T C C Verified Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq 1 dbGAP Illumina HiSeq 16f3a01d-16b0-4405-bab7-1e22fdeb0b24 79b57153-6800-44e6-9f71-4e7323b04470 1 111018259 111018259 C T SNP KCNA3 NM_002232.3 human genbank 54_36p -1 reviewed silent c.696 p.P232 0.967 superfamily_SSF81324 HMMSmart_BTB,HMMPfam_K_tetra,HMMPfam_Ion_trans,superfamily_BTB/POZ_fold,superfamily_SSF81324 - no_errors 214 8 3.57 275 272 49.45 15 9 37.50 +TMEM198 0 genome.wustl.edu 37 2 220413919 220413919 + Missense_Mutation SNP G G A TCGA-AB-2979-03A-01D-0739-09 TCGA-AB-2979-11A-01D-0739-09 G G G A G G Verified Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq 1 dbGAP Illumina HiSeq 16f3a01d-16b0-4405-bab7-1e22fdeb0b24 79b57153-6800-44e6-9f71-4e7323b04470 2 220122163 220122163 G A SNP TMEM198 NM_001005209.1 human genbank 54_36p +1 provisional missense c.788 p.R263Q 0.998 NULL NULL - no_errors 265 13 4.68 235 181 43.51 NA NA NA +LOC100131040 0 genome.wustl.edu 37 5 114506379 114506379 + Missense_Mutation SNP A A G TCGA-AB-2979-03A-01D-0739-09 TCGA-AB-2979-11A-01D-0739-09 A A A G A A Verified Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq 1 dbGAP Illumina HiSeq 16f3a01d-16b0-4405-bab7-1e22fdeb0b24 79b57153-6800-44e6-9f71-4e7323b04470 5 114534278 114534278 A G SNP LOC100131040 XM_001715034.1 human genbank 54_36p +1 model missense c.73 p.S25G 0.001 NULL NULL - no_errors 239 9 3.61 260 191 42.35 NA NA NA +PKHD1 0 genome.wustl.edu 37 6 51524181 51524181 + Silent SNP G G C TCGA-AB-2979-03A-01D-0739-09 TCGA-AB-2979-11A-01D-0739-09 G G G C G G Verified Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq 1 dbGAP Illumina HiSeq 16f3a01d-16b0-4405-bab7-1e22fdeb0b24 79b57153-6800-44e6-9f71-4e7323b04470 6 51632140 51632140 G C SNP PKHD1 NM_138694.3 human genbank 54_36p -1 reviewed silent c.10743 p.L3581 0.391 NULL HMMPfam_TIG,HMMSmart_SM00429,HMMSmart_SM00710,superfamily_Pectin lyase-like,superfamily_E set domains,HMMPfam_G8 - no_errors 968 20 2.02 1292 1083 45.56 NA NA NA +TRIM24 0 genome.wustl.edu 37 7 138266451 138266451 + Missense_Mutation SNP C C T TCGA-AB-2979-03A-01D-0739-09 TCGA-AB-2979-11A-01D-0739-09 C C C T C C Verified Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq 1 dbGAP Illumina HiSeq 16f3a01d-16b0-4405-bab7-1e22fdeb0b24 79b57153-6800-44e6-9f71-4e7323b04470 7 137916991 137916991 C T SNP TRIM24 NM_015905.3 human genbank 54_36p +1 reviewed missense c.2728 p.R910C 0.998 HMMPfam_Bromodomain,HMMSmart_SM00297,superfamily_Bromodomain HMMPfam_zf-B_box,HMMSmart_SM00336,HMMPfam_Bromodomain,HMMSmart_SM00297,superfamily_Bromodomain,HMMSmart_SM00184,HMMSmart_SM00249,HMMSmart_SM00502,superfamily_FYVE/PHD zinc finger,PatternScan_ZF_RING_1,PatternScan_BROMODOMAIN_1,HMMPfam_zf-C3HC4,PatternScan_ZF_PHD_1,HMMPfam_PHD,superfamily_RING/U-box - no_errors 1009 22 2.13 697 483 40.90 49 37 43.02 +INS-IGF2 0 genome.wustl.edu 37 11 2182073 2182073 + Silent SNP G G A TCGA-AB-2979-03A-01D-0739-09 TCGA-AB-2979-11A-01D-0739-09 G G G A G G Verified Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq 1 dbGAP Illumina HiSeq 16f3a01d-16b0-4405-bab7-1e22fdeb0b24 79b57153-6800-44e6-9f71-4e7323b04470 11 2138649 2138649 G A SNP INS-IGF2 NM_001042376.1 human genbank 54_36p -1 reviewed silent c.129 p.C43 0.999 HMMPfam_Insulin,HMMSmart_SM00078,superfamily_Insulin-like HMMPfam_Insulin,HMMSmart_SM00078,superfamily_Insulin-like - no_errors 46 0 0.00 42 51 54.84 NA NA NA +LIMA1 0 genome.wustl.edu 37 12 50615952 50615953 + Frame_Shift_Ins INS - - T TCGA-AB-2979-03A-01D-0739-09 TCGA-AB-2979-11A-01D-0739-09 - - - T - - Verified Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq 1 dbGAP Illumina HiSeq 16f3a01d-16b0-4405-bab7-1e22fdeb0b24 79b57153-6800-44e6-9f71-4e7323b04470 12 48902219 48902220 - T INS LIMA1 NM_016357.1 human genbank 54_36p -1 validated frame_shift_ins c.482_481 p.M161fs 0.998:0.974 NULL HMMPfam_LIM,HMMSmart_SM00132,PatternScan_LIM_DOMAIN_1,superfamily_Glucocorticoid receptor-like (DNA-binding domain) - no_errors 763 11 1.42 747 412 35.55 9 5 35.71 +CEBPA 0 genome.wustl.edu 37 19 33792395 33792400 + In_Frame_Del DEL TCCACG TCCACG - TCGA-AB-2979-03A-01D-0739-09 TCGA-AB-2979-11A-01D-0739-09 TCCACG TCCACG TCCACG - TCCACG TCCACG Verified Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq 1 dbGAP Illumina HiSeq 16f3a01d-16b0-4405-bab7-1e22fdeb0b24 79b57153-6800-44e6-9f71-4e7323b04470 19 38484235 38484240 TCCACG - DEL CEBPA NM_004364.3 human genbank 54_36p -1 reviewed in_frame_del c.926_921 p.NVE307in_frame_delK 1.000:1.000:1.000:1.000:1.000:1.000 HMMSmart_BRLZ,HMMPfam_bZIP_2 HMMSmart_BRLZ,PatternScan_BZIP_BASIC,HMMPfam_bZIP_2 - no_errors NA NA NA NA NA NA NA NA NA +CEBPA 0 genome.wustl.edu 37 19 33793119 33793120 + Frame_Shift_Del DEL TG TG - TCGA-AB-2979-03A-01D-0739-09 TCGA-AB-2979-11A-01D-0739-09 TG TG TG - TG TG Verified Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq 1 dbGAP Illumina HiSeq 16f3a01d-16b0-4405-bab7-1e22fdeb0b24 79b57153-6800-44e6-9f71-4e7323b04470 19 38484959 38484960 TG - DEL CEBPA NM_004364.3 human genbank 54_36p -1 reviewed frame_shift_del c.202_201 p.I68fs 1.000:1.000 NULL HMMSmart_BRLZ,PatternScan_BZIP_BASIC,HMMPfam_bZIP_2 - no_errors 0 0 0.00 0 29 42.03 0 651 48.65 +RBKS 0 genome.wustl.edu 37 2 28069916 28069916 + Missense_Mutation SNP A A C TCGA-AB-2980-03A-01D-0739-09 TCGA-AB-2980-11A-01D-0739-09 A A A C A A Verified Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq 1 dbGAP Illumina HiSeq 2bcd56a1-1367-4b97-8f35-eceb3dce2e4d 3b04b48e-a9fa-4cc9-98a3-e65c1ee56543 2 27923420 27923420 A C SNP RBKS NM_022128.1 human genbank 54_36p -1 reviewed missense c.342 p.N114K 1.000 HMMPfam_PfkB,superfamily_SSF53613 PatternScan_PFKB_KINASES_1,PatternScan_PFKB_KINASES_2,HMMPfam_PfkB,superfamily_SSF53613 - no_errors 1349 0 0.00 1449 514 26.18 5 3 37.50 +XIRP1 0 genome.wustl.edu 37 3 39225927 39225927 + Silent SNP T T C TCGA-AB-2980-03A-01D-0739-09 TCGA-AB-2980-11A-01D-0739-09 T T T C T T Verified Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq 1 dbGAP Illumina HiSeq 2bcd56a1-1367-4b97-8f35-eceb3dce2e4d 3b04b48e-a9fa-4cc9-98a3-e65c1ee56543 3 39200931 39200931 T C SNP XIRP1 NM_194293.2 human genbank 54_36p -1 provisional silent c.5010 p.P1670 0.979 NULL HMMPfam_Xin - no_errors 752 2 0.26 819 359 30.09 NA NA NA +CACNA2D3 0 genome.wustl.edu 37 3 54933863 54933863 + Missense_Mutation SNP T T C TCGA-AB-2980-03A-01D-0739-09 TCGA-AB-2980-11A-01D-0739-09 T T T C T T Verified Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq 1 dbGAP Illumina HiSeq 2bcd56a1-1367-4b97-8f35-eceb3dce2e4d 3b04b48e-a9fa-4cc9-98a3-e65c1ee56543 3 54908903 54908903 T C SNP CACNA2D3 NM_018398.2 human genbank 54_36p +1 reviewed missense c.2417 p.L806P 1.000 NULL HMMPfam_VWA,HMMSmart_SM00327,HMMPfam_Cache_1,HMMPfam_VWA_N,superfamily_vWA-like - no_errors 1104 0 0.00 920 437 32.16 NA NA NA +ASTE1 0 genome.wustl.edu 37 3 130737522 130737522 + Silent SNP G G A TCGA-AB-2980-03A-01D-0739-09 TCGA-AB-2980-11A-01D-0739-09 G G G A G G Verified Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq 1 dbGAP Illumina HiSeq 2bcd56a1-1367-4b97-8f35-eceb3dce2e4d 3b04b48e-a9fa-4cc9-98a3-e65c1ee56543 3 132220212 132220212 G A SNP ASTE1 NM_014065.2 human genbank 54_36p -1 validated silent c.1341 p.T447 0.869 NULL HMMPfam_XPG_N,superfamily_SSF88723 - no_errors 928 1 0.11 845 316 27.17 1 3 75.00 +DCT 0 genome.wustl.edu 37 13 95121165 95121165 + Missense_Mutation SNP C C T TCGA-AB-2980-03A-01D-0739-09 TCGA-AB-2980-11A-01D-0739-09 C C C T C C Verified Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq 1 dbGAP Illumina HiSeq 2bcd56a1-1367-4b97-8f35-eceb3dce2e4d 3b04b48e-a9fa-4cc9-98a3-e65c1ee56543 13 93919166 93919166 C T SNP DCT NM_001922.1 human genbank 54_36p -1 validated missense c.430 p.A144T 0.599 superfamily_Di-copper_centre HMMPfam_Tyrosinase,PatternScan_TYROSINASE_1,PatternScan_TYROSINASE_2,superfamily_Di-copper_centre - no_errors 904 0 0.00 833 299 26.41 NA NA NA +ENSG00000198229 0 genome.wustl.edu 37 16 33629937 33629937 + Missense_Mutation SNP C C G TCGA-AB-2980-03A-01D-0739-09 TCGA-AB-2980-11A-01D-0739-09 C C C G C C Verified Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq 1 dbGAP Illumina HiSeq 2bcd56a1-1367-4b97-8f35-eceb3dce2e4d 3b04b48e-a9fa-4cc9-98a3-e65c1ee56543 16 33537438 33537438 C G SNP ENSG00000198229 ENST00000354689 human ensembl 54_36p +1 known missense c.162 p.H54Q 0.984 HMMSmart_IGv,HMMPfam_V-set,superfamily_SSF48726 HMMSmart_IGv,HMMPfam_V-set,superfamily_SSF48726 - no_stop_codon 648 0 0.00 557 110 16.49 3 1 25.00 +FLT3 0 genome.wustl.edu 37 13 28608255 28608256 + In_Frame_Ins INS - - ATCATATTCATATTCTCTGAA TCGA-AB-2980-03A-01D-0739-09 TCGA-AB-2980-11A-01D-0739-09 - - - ATCATATTCATATTCTCTGAA - - Verified Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq 1 dbGAP Illumina HiSeq 2bcd56a1-1367-4b97-8f35-eceb3dce2e4d 3b04b48e-a9fa-4cc9-98a3-e65c1ee56543 13 27506255 27506256 - ATCATATTCATATTCTCTGAA INS FLT3 NM_004119.2 human genbank 54_36p -1 reviewed in_frame_ins c.1801_1800 p.600in_frame_insFREYEYD 1.000:0.998 superfamily_Kinase_like HMMPfam_Pkinase_Tyr,HMMSmart_TyrKc,PatternScan_RECEPTOR_TYR_KIN_III,PatternScan_PROTEIN_KINASE_TYR,superfamily_Kinase_like,HMMPfam_ig,PatternScan_PROTEIN_KINASE_ATP,superfamily_SSF48726 - no_errors NA NA NA NA NA NA NA NA NA +DNMT3A 0 genome.wustl.edu 37 2 25457243 25457243 + Missense_Mutation SNP G G A TCGA-AB-2981-03A-01D-0739-09 TCGA-AB-2981-11A-01D-0739-09 G G G A G G Verified Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq 1 dbGAP Illumina HiSeq 7212ba7b-f637-4f9f-b616-94109bfb8898 25cb572c-99a3-4fe6-8e7f-87ed37ab2d17 2 25310747 25310747 G A SNP DNMT3A NM_022552.3 human genbank 54_36p -1 reviewed missense c.2644 p.R882C 1.000 superfamily_S-adenosyl-L-methionine-dependent methyltransferases HMMPfam_PWWP,HMMSmart_SM00293,HMMPfam_DNA_methylase,superfamily_FYVE/PHD zinc finger,PatternScan_C5_MTASE_1,superfamily_S-adenosyl-L-methionine-dependent methyltransferases,superfamily_Tudor/PWWP/MBT - no_errors 731 185 20.07 257 263 50.48 10 11 52.38 +BBS7 0 genome.wustl.edu 37 4 122791466 122791466 + Missense_Mutation SNP C C A TCGA-AB-2981-03A-01D-0739-09 TCGA-AB-2981-11A-01D-0739-09 C C C A C C Verified Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq 1 dbGAP Illumina HiSeq 7212ba7b-f637-4f9f-b616-94109bfb8898 25cb572c-99a3-4fe6-8e7f-87ed37ab2d17 4 123010916 123010916 C A SNP BBS7 NM_176824.2 human genbank 54_36p -1 reviewed missense c.3 p.M1I 1.000 NULL NULL - no_errors 677 126 15.54 297 269 47.44 7 6 46.15 +ZDHHC11 0 genome.wustl.edu 37 5 850655 850655 + Silent SNP C C T TCGA-AB-2981-03A-01D-0739-09 TCGA-AB-2981-11A-01D-0739-09 C C C T C C Verified Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq 1 dbGAP Illumina HiSeq 7212ba7b-f637-4f9f-b616-94109bfb8898 25cb572c-99a3-4fe6-8e7f-87ed37ab2d17 5 903655 903655 C T SNP ZDHHC11 NM_024786.2 human genbank 54_36p -1 validated silent c.63 p.K21 0.002 NULL HMMPfam_zf-DHHC - no_errors 134 28 17.07 92 101 52.33 NA NA NA +NEMF 0 genome.wustl.edu 37 14 50262635 50262635 + Silent SNP A A G TCGA-AB-2981-03A-01D-0739-09 TCGA-AB-2981-11A-01D-0739-09 A A A G A A Verified Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq 1 dbGAP Illumina HiSeq 7212ba7b-f637-4f9f-b616-94109bfb8898 25cb572c-99a3-4fe6-8e7f-87ed37ab2d17 14 49332385 49332385 A G SNP SDCCAG1 NM_004713.3 human genbank 54_36p -1 validated silent c.2493 p.S831 0.789 NULL HMMPfam_DUF814,HMMPfam_FbpA - no_errors 394 59 12.94 136 103 43.10 37 33 47.14 +LOC100128562 0 genome.wustl.edu 37 15 75836563 75836563 + Silent SNP C C T TCGA-AB-2981-03A-01D-0739-09 TCGA-AB-2981-11A-01D-0739-09 C C C T C C Verified Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq 1 dbGAP Illumina HiSeq 7212ba7b-f637-4f9f-b616-94109bfb8898 25cb572c-99a3-4fe6-8e7f-87ed37ab2d17 15 73623618 73623618 C T SNP LOC100128562 XM_001726845.1 human genbank 54_36p -1 model silent c.390 p.S130 0.000 NULL PatternScan_LECTIN_LEGUME_BETA - no_errors 546 93 14.51 161 128 44.29 7 3 30.00 +FAM57B 0 genome.wustl.edu 37 16 30036568 30036568 + Missense_Mutation SNP C C T TCGA-AB-2981-03A-01D-0739-09 TCGA-AB-2981-11A-01D-0739-09 C C C T C C Verified Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq 1 dbGAP Illumina HiSeq 7212ba7b-f637-4f9f-b616-94109bfb8898 25cb572c-99a3-4fe6-8e7f-87ed37ab2d17 16 29944069 29944069 C T SNP FAM57B NM_031478.4 human genbank 54_36p -1 validated missense c.761 p.R254H 0.997 HMMPfam_TRAM_LAG1_CLN8,HMMSmart_SM00724 HMMPfam_TRAM_LAG1_CLN8,HMMSmart_SM00724 - no_errors 91 26 22.22 31 29 48.33 NA NA NA +NPM1 0 genome.wustl.edu 37 5 170837547 170837548 + Frame_Shift_Ins INS - - TCTG TCGA-AB-2981-03A-01D-0739-09 TCGA-AB-2981-11A-01D-0739-09 - - - TCTG - - Verified Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq 1 dbGAP Illumina HiSeq 7212ba7b-f637-4f9f-b616-94109bfb8898 25cb572c-99a3-4fe6-8e7f-87ed37ab2d17 5 170770152 170770153 - TCTG INS NPM1 NM_002520.1 human genbank 54_36p +1 validated frame_shift_ins c.863_864 p.W288fs 1.000:1.000 NULL HMMPfam_Nucleoplasmin,superfamily_Nucleoplasmin-like core domain - no_errors NA NA NA NA NA NA NA NA NA +FLT3 0 genome.wustl.edu 37 13 28608311 28608312 + In_Frame_Ins INS - - ATTCATATTCTCTGAAATCAACGTAGAAGTACTCATTATCTGAGGAGCCGGCCA TCGA-AB-2981-03A-01D-0739-09 TCGA-AB-2981-11A-01D-0739-09 - - - ATTCATATTCTCTGAAATCAACGTAGAAGTACTCATTATCTGAGGAGCCGGCCA - - Verified Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq 1 dbGAP Illumina HiSeq 7212ba7b-f637-4f9f-b616-94109bfb8898 25cb572c-99a3-4fe6-8e7f-87ed37ab2d17 13 27506311 27506312 - ATTCATATTCTCTGAAATCAACGTAGAAGTACTCATTATCTGAGGAGCCGGCCA INS FLT3 NM_004119.2 human genbank 54_36p -1 reviewed in_frame_ins c.1745_1744 p.T582in_frame_insMAGSSDNEYFYVDFREYES 0.986:0.998 superfamily_Kinase_like HMMPfam_Pkinase_Tyr,HMMSmart_TyrKc,PatternScan_RECEPTOR_TYR_KIN_III,PatternScan_PROTEIN_KINASE_TYR,superfamily_Kinase_like,HMMPfam_ig,PatternScan_PROTEIN_KINASE_ATP,superfamily_SSF48726 - no_errors NA NA NA NA NA NA NA NA NA +SUSD5 0 genome.wustl.edu 37 3 33194315 33194315 + Silent SNP G G A TCGA-AB-2982-03A-01D-0739-09 TCGA-AB-2982-11A-01D-0739-09 G G G A G G Verified Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq 1 dbGAP Illumina HiSeq 8370b0ee-a7e7-4fbb-a04e-b31c1d1c7b3c fd834a25-f907-4646-8a91-2a1d97db9aaf 3 33169319 33169319 G A SNP SUSD5 NM_015551.1 human genbank 54_36p -1 validated silent c.1809 p.H603 1.000 NULL HMMSmart_CCP,HMMPfam_Xlink,HMMSmart_LINK,PatternScan_LINK_1,superfamily_Complement_control_module,superfamily_C-type_lectin_fold - no_errors 466 36 7.17 800 472 37.08 NA NA NA +FGL2 0 genome.wustl.edu 37 7 76825955 76825955 + Missense_Mutation SNP C C A TCGA-AB-2982-03A-01D-0739-09 TCGA-AB-2982-11A-01D-0739-09 C C C A C C Verified Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq 1 dbGAP Illumina HiSeq 8370b0ee-a7e7-4fbb-a04e-b31c1d1c7b3c fd834a25-f907-4646-8a91-2a1d97db9aaf 7 76663891 76663891 C A SNP FGL2 NM_006682.2 human genbank 54_36p -1 reviewed missense c.961 p.V321L 1.000 HMMPfam_Fibrinogen_C,HMMSmart_SM00186,superfamily_Fibrinogen C-terminal domain-like HMMPfam_Fibrinogen_C,HMMSmart_SM00186,PatternScan_FIBRIN_AG_C_DOMAIN,superfamily_Fibrinogen C-terminal domain-like - no_errors 168 17 9.19 663 360 35.19 1 3 75.00 +ENSG00000215720 0 genome.wustl.edu 37 1 15518745 15518746 + Splice_Site INS - - AGCGTAAGTACACGGGTGG TCGA-AB-2982-03A-01D-0739-09 TCGA-AB-2982-11A-01D-0739-09 - - - AGCGTAAGTACACGGGTGG - - Verified Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq 1 dbGAP Illumina HiSeq 8370b0ee-a7e7-4fbb-a04e-b31c1d1c7b3c fd834a25-f907-4646-8a91-2a1d97db9aaf 1 15391332 15391333 - AGCGTAAGTACACGGGTGG INS ENSG00000215720 ENST00000400795 human ensembl 54_36p -1 known splice_site_ins c.NULL NULL 0.994:0.991 - - - no_coding_region:pseudogene NA NA NA NA NA NA NA NA NA +OVGP1 0 genome.wustl.edu 37 1 111957502 111957525 + In_Frame_Del DEL TCACAGACTGATGACTCACAGGGG TCACAGACTGATGACTCACAGGGG - TCGA-AB-2982-03A-01D-0739-09 TCGA-AB-2982-11A-01D-0739-09 TCACAGACTGATGACTCACAGGGG TCACAGACTGATGACTCACAGGGG TCACAGACTGATGACTCACAGGGG - TCACAGACTGATGACTCACAGGGG TCACAGACTGATGACTCACAGGGG Verified Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq 1 dbGAP Illumina HiSeq 8370b0ee-a7e7-4fbb-a04e-b31c1d1c7b3c fd834a25-f907-4646-8a91-2a1d97db9aaf 1 111759025 111759048 TCACAGACTGATGACTCACAGGGG - DEL OVGP1 NM_002557.3 human genbank 54_36p -1 reviewed in_frame_del c.1621_1598 p.TPVSHQSV533in_frame_del 0.115:0.128:0.134:0.121:0.100:0.104:0.104:0.104:0.104:0.105:0.099:0.087:0.066:0.056:0.038:0.029:0.001:0.002:0.076:0.129:0.139:0.142:0.139:0.125 NULL HMMPfam_Glyco_hydro_18,HMMSmart_SM00636,superfamily_(Trans)glycosidases,superfamily_Chitinase insertion domain - no_errors NA NA NA NA NA NA NA NA NA +ENSG00000220279 0 genome.wustl.edu 37 8 105394094 105394113 + Frame_Shift_Del DEL ACACACACACACACACACAT ACACACACACACACACACAT - rs71889021 TCGA-AB-2982-03A-01D-0739-09 TCGA-AB-2982-11A-01D-0739-09 ACACACACACACACACACAT ACACACACACACACACACAT ACACACACACACACACACAT - ACACACACACACACACACAT ACACACACACACACACACAT Verified Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq 1 dbGAP Illumina HiSeq 8370b0ee-a7e7-4fbb-a04e-b31c1d1c7b3c fd834a25-f907-4646-8a91-2a1d97db9aaf 8 105463270 105463289 ACACACACACACACACACAT - DEL ENSG00000220279 ENST00000404280 human ensembl 54_36p -1 known frame_shift_del c.155_136 p.M46fs 0.001:0.000:0.000:0.000:0.000:0.001:0.001:0.001:0.001:0.002:0.001:0.000:0.000:0.000:0.001:0.000:0.000:0.000:0.000:0.000 NULL NULL - no_errors NA NA NA NA NA NA NA NA NA +CHIT1 0 genome.wustl.edu 37 1 203186123 203186123 + Missense_Mutation SNP C C T TCGA-AB-2983-03A-01D-0739-09 TCGA-AB-2983-11A-01D-0739-09 C C C T C C Verified Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq 1 dbGAP Illumina HiSeq 14026827-734d-42a2-8803-03f598fe541e 707d05c9-0df6-4ed0-91a2-5cb30b3b42b8 1 201452746 201452746 C T SNP CHIT1 NM_003465.2 human genbank 54_36p -1 reviewed missense c.1295 p.R432Q 0.000 HMMPfam_CBM_14,HMMSmart_SM00494,superfamily_Invertebrate chitin-binding proteins HMMPfam_Glyco_hydro_18,PatternScan_CHITINASE_18,HMMPfam_CBM_14,HMMSmart_SM00494,superfamily_Invertebrate chitin-binding proteins,HMMSmart_SM00636,superfamily_(Trans)glycosidases,superfamily_Chitinase insertion domain - no_errors 542 12 2.16 461 373 44.62 0 0 0.00 +STRN 0 genome.wustl.edu 37 2 37143244 37143244 + Missense_Mutation SNP A A T TCGA-AB-2983-03A-01D-0739-09 TCGA-AB-2983-11A-01D-0739-09 A A A T A A Verified Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq 1 dbGAP Illumina HiSeq 14026827-734d-42a2-8803-03f598fe541e 707d05c9-0df6-4ed0-91a2-5cb30b3b42b8 2 36996748 36996748 A T SNP STRN NM_003162.2 human genbank 54_36p -1 validated missense c.389 p.M130K 1.000 HMMPfam_Striatin HMMSmart_SM00320,superfamily_WD40 repeat-like,HMMPfam_Striatin,PatternScan_WD_REPEATS_1,HMMPfam_WD40 - no_errors 706 8 1.12 708 540 43.23 6 1 14.29 +MAP2 0 genome.wustl.edu 37 2 210559334 210559334 + Missense_Mutation SNP G G A TCGA-AB-2983-03A-01D-0739-09 TCGA-AB-2983-11A-01D-0739-09 G G G A G G Verified Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq 1 dbGAP Illumina HiSeq 14026827-734d-42a2-8803-03f598fe541e 707d05c9-0df6-4ed0-91a2-5cb30b3b42b8 2 210267579 210267579 G A SNP MAP2 NM_002374.1 human genbank 54_36p +1 reviewed missense c.2440 p.G814S 1.000 HMMPfam_MAP2_projctn HMMPfam_Tubulin-binding,PatternScan_TAU_MAP,HMMPfam_MAP2_projctn,HMMPfam_RII_binding_1 - no_errors 1054 20 1.86 764 519 40.42 NA NA NA +NAT8L 0 genome.wustl.edu 37 4 2065507 2065507 + Missense_Mutation SNP G G A TCGA-AB-2983-03A-01D-0739-09 TCGA-AB-2983-11A-01D-0739-09 G G G A G G Verified Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq 1 dbGAP Illumina HiSeq 14026827-734d-42a2-8803-03f598fe541e 707d05c9-0df6-4ed0-91a2-5cb30b3b42b8 4 2035305 2035305 G A SNP NAT8L NM_178557.2 human genbank 54_36p +1 provisional missense c.58 p.V20M 1.000 HMMPfam_Acetyltransf_1,superfamily_Acyl-CoA N-acyltransferases (Nat) HMMPfam_Acetyltransf_1,superfamily_Acyl-CoA N-acyltransferases (Nat) - no_errors 68 4 5.56 57 52 47.71 NA NA NA +PCDHB11 0 genome.wustl.edu 37 5 140580470 140580470 + Missense_Mutation SNP T T C TCGA-AB-2983-03A-01D-0739-09 TCGA-AB-2983-11A-01D-0739-09 T T T C T T Verified Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq 1 dbGAP Illumina HiSeq 14026827-734d-42a2-8803-03f598fe541e 707d05c9-0df6-4ed0-91a2-5cb30b3b42b8 5 140560654 140560654 T C SNP PCDHB11 NM_018931.2 human genbank 54_36p +1 reviewed missense c.1123 p.S375P 0.965 HMMPfam_Cadherin,HMMSmart_CA,superfamily_Cadherin HMMPfam_Cadherin,HMMSmart_CA,PatternScan_CADHERIN_1,HMMPfam_Cadherin_2,superfamily_Cadherin - no_errors 692 10 1.42 520 378 42.05 NA NA NA +SEMA3A 0 genome.wustl.edu 37 7 83636712 83636712 + Missense_Mutation SNP C C G TCGA-AB-2983-03A-01D-0739-09 TCGA-AB-2983-11A-01D-0739-09 C C C G C C Verified Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq 1 dbGAP Illumina HiSeq 14026827-734d-42a2-8803-03f598fe541e 707d05c9-0df6-4ed0-91a2-5cb30b3b42b8 7 83474648 83474648 C G SNP SEMA3A NM_006080.2 human genbank 54_36p -1 reviewed missense c.1097 p.W366S 1.000 HMMPfam_Sema,HMMSmart_Sema,superfamily_Sema HMMPfam_Sema,HMMSmart_Sema,superfamily_Sema,HMMSmart_IG,HMMSmart_PSI,HMMPfam_ig,superfamily_Plexin-like_fold,superfamily_SSF48726 - no_errors 842 26 2.99 571 470 45.11 NA NA NA +RPL27A 0 genome.wustl.edu 37 11 8705620 8705620 + Silent SNP C C T TCGA-AB-2983-03A-01D-0739-09 TCGA-AB-2983-11A-01D-0739-09 C C C T C C Verified Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq 1 dbGAP Illumina HiSeq 14026827-734d-42a2-8803-03f598fe541e 707d05c9-0df6-4ed0-91a2-5cb30b3b42b8 11 8662196 8662196 C T SNP RPL27A NM_000990.4 human genbank 54_36p +1 reviewed silent c.135 p.F45 0.790 superfamily_Ribosomal proteins L15p and L18e HMMPfam_L15,PatternScan_RIBOSOMAL_L15,superfamily_Ribosomal proteins L15p and L18e - no_errors 684 20 2.84 126 711 84.95 1 55 98.21 +COL2A1 0 genome.wustl.edu 37 12 48380136 48380136 + Missense_Mutation SNP C C A rs121912880 TCGA-AB-2983-03A-01D-0739-09 TCGA-AB-2983-11A-01D-0739-09 C C C A C C Verified Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq 1 dbGAP Illumina HiSeq 14026827-734d-42a2-8803-03f598fe541e 707d05c9-0df6-4ed0-91a2-5cb30b3b42b8 12 46666403 46666403 C A SNP COL2A1 NM_001844.4 human genbank 54_36p -1 reviewed missense c.1510 p.G504C 0.990 HMMPfam_Collagen HMMPfam_COLFI,HMMSmart_SM00038,HMMPfam_VWC,HMMSmart_SM00214,PatternScan_VWFC_1,HMMPfam_Collagen - no_errors 317 9 2.76 222 174 43.94 NA NA NA +SMARCC2 0 genome.wustl.edu 37 12 56581079 56581079 + Silent SNP A A G TCGA-AB-2983-03A-01D-0739-09 TCGA-AB-2983-11A-01D-0739-09 A A A G A A Verified Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq 1 dbGAP Illumina HiSeq 14026827-734d-42a2-8803-03f598fe541e 707d05c9-0df6-4ed0-91a2-5cb30b3b42b8 12 54867346 54867346 A G SNP SMARCC2 NM_003075.1 human genbank 54_36p -1 reviewed silent c.123 p.A41 0.915 NULL HMMSmart_SM00298,HMMSmart_SM00717,superfamily_BRCT domain,HMMPfam_SWIRM,superfamily_Homeodomain-like,HMMPfam_Myb_DNA-binding - no_errors 456 15 3.18 454 330 42.04 62 38 38.00 +ELF1 0 genome.wustl.edu 37 13 41508066 41508066 + Missense_Mutation SNP A A G TCGA-AB-2983-03A-01D-0739-09 TCGA-AB-2983-11A-01D-0739-09 A A A G A A Verified Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq 1 dbGAP Illumina HiSeq 14026827-734d-42a2-8803-03f598fe541e 707d05c9-0df6-4ed0-91a2-5cb30b3b42b8 13 40406066 40406066 A G SNP ELF1 NM_172373.1 human genbank 54_36p -1 reviewed missense c.1355 p.I452T 1.000 NULL HMMPfam_Ets,HMMSmart_ETS,PatternScan_ETS_DOMAIN_1,PatternScan_ETS_DOMAIN_2,superfamily_SSF46785 - no_errors 1404 29 2.02 942 717 43.19 121 110 47.41 +METTL3 0 genome.wustl.edu 37 14 21979283 21979283 + Missense_Mutation SNP T T C TCGA-AB-2983-03A-01D-0739-09 TCGA-AB-2983-11A-01D-0739-09 T T T C T T Verified Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq 1 dbGAP Illumina HiSeq 14026827-734d-42a2-8803-03f598fe541e 707d05c9-0df6-4ed0-91a2-5cb30b3b42b8 14 21049123 21049123 T C SNP METTL3 NM_019852.3 human genbank 54_36p -1 reviewed missense c.83 p.Q28R 1.000 NULL HMMPfam_MT-A70 - no_errors 414 8 1.89 239 124 34.16 21 24 53.33 +DYNC1H1 0 genome.wustl.edu 37 14 102453065 102453065 + Missense_Mutation SNP C C T TCGA-AB-2983-03A-01D-0739-09 TCGA-AB-2983-11A-01D-0739-09 C C C T C C Verified Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq 1 dbGAP Illumina HiSeq 14026827-734d-42a2-8803-03f598fe541e 707d05c9-0df6-4ed0-91a2-5cb30b3b42b8 14 101522818 101522818 C T SNP DYNC1H1 NM_001376.4 human genbank 54_36p +1 reviewed missense c.2503 p.R835C 1.000 NULL HMMSmart_AAA,HMMPfam_Dynein_heavy,HMMPfam_AAA_5,HMMPfam_DHC_N1,HMMPfam_DHC_N2,superfamily_SSF52540 - no_errors 1623 28 1.69 1212 666 35.44 28 20 41.67 +JMJD5 0 genome.wustl.edu 37 16 27221818 27221818 + Missense_Mutation SNP T T G TCGA-AB-2983-03A-01D-0739-09 TCGA-AB-2983-11A-01D-0739-09 T T T G T T Verified Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq 1 dbGAP Illumina HiSeq 14026827-734d-42a2-8803-03f598fe541e 707d05c9-0df6-4ed0-91a2-5cb30b3b42b8 16 27129319 27129319 T G SNP JMJD5 NM_024773.1 human genbank 54_36p +1 reviewed missense c.374 p.M125R 1.000 NULL HMMSmart_SM00558,superfamily_Clavaminate synthase-like - no_errors 382 8 2.05 251 178 41.30 5 1 16.67 +NANOS2 0 genome.wustl.edu 37 19 46417670 46417670 + Silent SNP C C T TCGA-AB-2983-03A-01D-0739-09 TCGA-AB-2983-11A-01D-0739-09 C C C T C C Verified Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq 1 dbGAP Illumina HiSeq 14026827-734d-42a2-8803-03f598fe541e 707d05c9-0df6-4ed0-91a2-5cb30b3b42b8 19 51109510 51109510 C T SNP NANOS2 NM_001029861.2 human genbank 54_36p -1 validated silent c.282 p.R94 0.998 HMMPfam_zf-nanos HMMPfam_zf-nanos - no_errors 812 23 2.75 339 294 46.37 NA NA NA +RUNX1 0 genome.wustl.edu 37 21 36252917 36252917 + Missense_Mutation SNP C C G TCGA-AB-2983-03A-01D-0739-09 TCGA-AB-2983-11A-01D-0739-09 C C C G C C Verified Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq 1 dbGAP Illumina HiSeq 14026827-734d-42a2-8803-03f598fe541e 707d05c9-0df6-4ed0-91a2-5cb30b3b42b8 21 35174787 35174787 C G SNP RUNX1 NM_001754.2 human genbank 54_36p -1 reviewed missense c.445 p.A149P 0.988 superfamily_p53-like transcription factors,HMMPfam_Runt superfamily_p53-like transcription factors,HMMPfam_Runt,HMMPfam_RunxI - no_errors 761 16 2.05 450 312 40.78 346 328 48.66 +CDC42 0 genome.wustl.edu 37 1 22405060 22405060 + Missense_Mutation SNP C C T TCGA-AB-2984-03A-01D-0739-09 TCGA-AB-2984-11A-01D-0739-09 C C C T C C Verified Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq 1 dbGAP Illumina HiSeq 3c90e4b9-81cd-4033-b233-593c37fbac1f 7e5f93a8-6056-47d1-9c1b-e8628c5699e6 1 22277647 22277647 C T SNP CDC42 NM_001039802.1 human genbank 54_36p +1 reviewed missense c.89 p.S30L 1.000 HMMSmart_SM00173,HMMSmart_SM00174,HMMSmart_SM00175,HMMPfam_Ras,superfamily_P-loop containing nucleoside triphosphate hydrolases HMMSmart_SM00173,HMMSmart_SM00174,HMMSmart_SM00175,HMMPfam_Ras,superfamily_P-loop containing nucleoside triphosphate hydrolases - no_errors 856 0 0.00 612 533 46.55 40 82 67.21 +SRRM1 0 genome.wustl.edu 37 1 24995947 24995947 + Silent SNP T T A TCGA-AB-2984-03A-01D-0739-09 TCGA-AB-2984-11A-01D-0739-09 T T T A T T Verified Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq 1 dbGAP Illumina HiSeq 3c90e4b9-81cd-4033-b233-593c37fbac1f 7e5f93a8-6056-47d1-9c1b-e8628c5699e6 1 24868534 24868534 T A SNP SRRM1 NM_005839.3 human genbank 54_36p +1 validated silent c.2073 p.P691 0.988 NULL HMMPfam_PWI,HMMSmart_SM00311,superfamily_PWI domain - no_errors 626 0 0.00 507 423 45.44 64 63 49.61 +NRAS 0 genome.wustl.edu 37 1 115258747 115258747 + Missense_Mutation SNP C C T rs121913237 TCGA-AB-2984-03A-01D-0739-09 TCGA-AB-2984-11A-01D-0739-09 C C C T C C Verified Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq 1 dbGAP Illumina HiSeq 3c90e4b9-81cd-4033-b233-593c37fbac1f 7e5f93a8-6056-47d1-9c1b-e8628c5699e6 1 115060270 115060270 C T SNP NRAS NM_002524.3 human genbank 54_36p -1 reviewed missense c.35 p.G12D 1.000 HMMSmart_SM00173,HMMSmart_SM00174,HMMSmart_SM00175,HMMPfam_Ras,superfamily_P-loop containing nucleoside triphosphate hydrolases HMMSmart_SM00173,HMMSmart_SM00174,HMMSmart_SM00175,HMMPfam_Ras,superfamily_P-loop containing nucleoside triphosphate hydrolases - no_errors 1095 1 0.09 815 500 37.97 21 9 29.03 +IDH1 0 genome.wustl.edu 37 2 209113113 209113113 + Missense_Mutation SNP G G A rs121913499 TCGA-AB-2984-03A-01D-0739-09 TCGA-AB-2984-11A-01D-0739-09 G G G A G G Verified Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq 1 dbGAP Illumina HiSeq 3c90e4b9-81cd-4033-b233-593c37fbac1f 7e5f93a8-6056-47d1-9c1b-e8628c5699e6 2 208821358 208821358 G A SNP IDH1 NM_005896.2 human genbank 54_36p -1 reviewed missense c.394 p.R132C 1.000 HMMPfam_Iso_dh,superfamily_Isocitrate/Isopropylmalate dehydrogenase-like HMMPfam_Iso_dh,PatternScan_IDH_IMDH,superfamily_Isocitrate/Isopropylmalate dehydrogenase-like - no_errors 858 0 0.00 592 570 49.01 11 6 35.29 +IMPG2 0 genome.wustl.edu 37 3 100962674 100962674 + Missense_Mutation SNP C C T TCGA-AB-2984-03A-01D-0739-09 TCGA-AB-2984-11A-01D-0739-09 C C C T C C Verified Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq 1 dbGAP Illumina HiSeq 3c90e4b9-81cd-4033-b233-593c37fbac1f 7e5f93a8-6056-47d1-9c1b-e8628c5699e6 3 102445364 102445364 C T SNP IMPG2 NM_016247.2 human genbank 54_36p -1 validated missense c.2501 p.G834D 0.018 NULL HMMPfam_SEA,HMMSmart_SM00200,PatternScan_EGF_2,superfamily_EGF/Laminin,superfamily_SEA domain - no_errors 1097 0 0.00 898 840 48.33 NA NA NA +PCDHA6 0 genome.wustl.edu 37 5 140209869 140209869 + Silent SNP G G A TCGA-AB-2984-03A-01D-0739-09 TCGA-AB-2984-11A-01D-0739-09 G G G A G G Verified Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq 1 dbGAP Illumina HiSeq 3c90e4b9-81cd-4033-b233-593c37fbac1f 7e5f93a8-6056-47d1-9c1b-e8628c5699e6 5 140190053 140190053 G A SNP PCDHA6 NM_018909.2 human genbank 54_36p +1 reviewed silent c.2193 p.A731 0.423 NULL HMMPfam_Cadherin,HMMSmart_SM00112,PatternScan_CADHERIN_1,HMMPfam_Cadherin_2,superfamily_Cadherin-like - no_errors 65 0 0.00 89 76 45.78 NA NA NA +ANKRD26 0 genome.wustl.edu 37 10 27317853 27317853 + Missense_Mutation SNP C C G TCGA-AB-2984-03A-01D-0739-09 TCGA-AB-2984-11A-01D-0739-09 C C C G C C Verified Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq 1 dbGAP Illumina HiSeq 3c90e4b9-81cd-4033-b233-593c37fbac1f 7e5f93a8-6056-47d1-9c1b-e8628c5699e6 10 27357859 27357859 C G SNP ANKRD26 NM_014915.2 human genbank 54_36p -1 validated missense c.3900 p.K1300N 1.000 NULL HMMPfam_Ank,HMMSmart_ANK,superfamily_ANK - no_errors 404 0 0.00 339 335 49.63 0 7 100.00 +LTA4H 0 genome.wustl.edu 37 12 96421313 96421313 + Missense_Mutation SNP A A G TCGA-AB-2984-03A-01D-0739-09 TCGA-AB-2984-11A-01D-0739-09 A A A G A A Verified Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq 1 dbGAP Illumina HiSeq 3c90e4b9-81cd-4033-b233-593c37fbac1f 7e5f93a8-6056-47d1-9c1b-e8628c5699e6 12 94945444 94945444 A G SNP LTA4H NM_000895.1 human genbank 54_36p -1 provisional missense c.320 p.F107S 0.946 HMMPfam_Peptidase_M1,superfamily_Leukotriene A4 hydrolase N-terminal domain HMMPfam_Peptidase_M1,HMMPfam_Leuk-A4-hydro_C,superfamily_ARM repeat,superfamily_Metalloproteases ("zincins") catalytic domain,superfamily_Leukotriene A4 hydrolase N-terminal domain - no_errors 632 0 0.00 500 405 44.65 4 11 73.33 +FREM2 0 genome.wustl.edu 37 13 39422657 39422657 + Missense_Mutation SNP C C G TCGA-AB-2984-03A-01D-0739-09 TCGA-AB-2984-11A-01D-0739-09 C C C G C C Verified Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq 1 dbGAP Illumina HiSeq 3c90e4b9-81cd-4033-b233-593c37fbac1f 7e5f93a8-6056-47d1-9c1b-e8628c5699e6 13 38320657 38320657 C G SNP FREM2 NM_207361.4 human genbank 54_36p +1 reviewed missense c.6229 p.Q2077E 1.000 HMMPfam_Calx-beta,HMMSmart_SM00237 HMMPfam_Calx-beta,HMMSmart_SM00237 - no_errors 845 0 0.00 584 540 48.00 NA NA NA +BABAM1 0 genome.wustl.edu 37 19 17386609 17386609 + Splice_Site SNP G G T TCGA-AB-2984-03A-01D-0739-09 TCGA-AB-2984-11A-01D-0739-09 G G G T G G Verified Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq 1 dbGAP Illumina HiSeq 3c90e4b9-81cd-4033-b233-593c37fbac1f 7e5f93a8-6056-47d1-9c1b-e8628c5699e6 19 17247609 17247609 G T SNP C19orf62 NM_001033549.1 human genbank 54_36p +1 validated splice_site c.545-1 e5-1 1.000 - - - no_errors 756 0 0.00 332 211 38.86 7 7 43.75 +CEP170 0 genome.wustl.edu 37 1 243362463 243362464 + In_Frame_Ins INS - - ATA TCGA-AB-2984-03A-01D-0739-09 TCGA-AB-2984-11A-01D-0739-09 - - - ATA - - Verified Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq 1 dbGAP Illumina HiSeq 3c90e4b9-81cd-4033-b233-593c37fbac1f 7e5f93a8-6056-47d1-9c1b-e8628c5699e6 1 241429086 241429087 - ATA INS CEP170 NM_014812.1 human genbank 54_36p -1 reviewed in_frame_ins c.530_529 p.177in_frame_insL 1.000:1.000 NULL HMMPfam_FHA,HMMSmart_SM00240,superfamily_SMAD/FHA domain - no_errors 385 0 0.00 550 184 25.07 11 0 0.00 +NPM1 0 genome.wustl.edu 37 5 170837547 170837548 + Frame_Shift_Ins INS - - TCTG TCGA-AB-2984-03A-01D-0739-09 TCGA-AB-2984-11A-01D-0739-09 - - - TCTG - - Verified Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq 1 dbGAP Illumina HiSeq 3c90e4b9-81cd-4033-b233-593c37fbac1f 7e5f93a8-6056-47d1-9c1b-e8628c5699e6 5 170770152 170770153 - TCTG INS NPM1 NM_002520.1 human genbank 54_36p +1 validated frame_shift_ins c.863_864 p.W288fs 1.000:1.000 NULL HMMPfam_Nucleoplasmin,superfamily_Nucleoplasmin-like core domain - no_errors NA NA NA NA NA NA NA NA NA +NRAS 0 genome.wustl.edu 37 1 115258748 115258748 + Missense_Mutation SNP C C A rs121913250 TCGA-AB-2985-03A-01D-0739-09 TCGA-AB-2985-11A-01D-0739-09 C C C A C C Verified Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq 1 dbGAP Illumina HiSeq 1e7d69a3-f69c-4d3d-98cd-965347b3150c 139677d5-471a-40b7-89ef-807034101853 1 115060271 115060271 C A SNP NRAS NM_002524.3 human genbank 54_36p -1 reviewed missense c.34 p.G12C 1.000 HMMSmart_SM00173,HMMSmart_SM00174,HMMSmart_SM00175,HMMPfam_Ras,superfamily_P-loop containing nucleoside triphosphate hydrolases HMMSmart_SM00173,HMMSmart_SM00174,HMMSmart_SM00175,HMMPfam_Ras,superfamily_P-loop containing nucleoside triphosphate hydrolases - no_errors 1357 136 9.11 736 301 28.75 17 8 32.00 +C3orf25 0 genome.wustl.edu 37 3 129140523 129140523 + Missense_Mutation SNP C C T TCGA-AB-2985-03A-01D-0739-09 TCGA-AB-2985-11A-01D-0739-09 C C C T C C Verified Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq 1 dbGAP Illumina HiSeq 1e7d69a3-f69c-4d3d-98cd-965347b3150c 139677d5-471a-40b7-89ef-807034101853 3 130623213 130623213 C T SNP C3orf25 NM_207307.1 human genbank 54_36p -1 predicted missense c.173 p.R58Q 0.532 NULL PatternScan_EF_HAND_1,superfamily_SSF47473 - no_errors 1057 162 13.29 430 374 46.46 NA NA NA +BMPER 0 genome.wustl.edu 37 7 34182946 34182946 + Missense_Mutation SNP A A C TCGA-AB-2985-03A-01D-0739-09 TCGA-AB-2985-11A-01D-0739-09 A A A C A A Verified Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq 1 dbGAP Illumina HiSeq 1e7d69a3-f69c-4d3d-98cd-965347b3150c 139677d5-471a-40b7-89ef-807034101853 7 34149471 34149471 A C SNP BMPER NM_133468.3 human genbank 54_36p +1 validated missense c.1850 p.H617P 0.936 HMMPfam_C8 HMMPfam_VWC,HMMSmart_VWC,PatternScan_VWFC_1,HMMPfam_VWD,HMMSmart_VWD,superfamily_Cysrich_TIL,HMMPfam_C8,HMMPfam_TIL - no_errors 810 85 9.50 340 259 43.24 NA NA NA +UGCG 0 genome.wustl.edu 37 9 114676927 114676927 + Silent SNP T T C TCGA-AB-2985-03A-01D-0739-09 TCGA-AB-2985-11A-01D-0739-09 T T T C T T Verified Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq 1 dbGAP Illumina HiSeq 1e7d69a3-f69c-4d3d-98cd-965347b3150c 139677d5-471a-40b7-89ef-807034101853 9 113716748 113716748 T C SNP UGCG NM_003358.1 human genbank 54_36p +1 reviewed silent c.141 p.Y47 1.000 NULL HMMPfam_Glycos_transf_2,superfamily_SSF53448 - no_errors 429 30 6.54 189 119 38.64 NA NA NA +HKDC1 0 genome.wustl.edu 37 10 71017130 71017130 + Silent SNP C C A TCGA-AB-2985-03A-01D-0739-09 TCGA-AB-2985-11A-01D-0739-09 C C C A C C Verified Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq 1 dbGAP Illumina HiSeq 1e7d69a3-f69c-4d3d-98cd-965347b3150c 139677d5-471a-40b7-89ef-807034101853 10 70687136 70687136 C A SNP HKDC1 NM_025130.3 human genbank 54_36p +1 validated silent c.1980 p.T660 1.000 HMMPfam_Hexokinase_1,superfamily_Actin-like ATPase domain HMMPfam_Hexokinase_1,HMMPfam_Hexokinase_2,PatternScan_HEXOKINASES,superfamily_Actin-like ATPase domain - no_errors 1027 146 12.43 338 288 45.93 3 0 0.00 +C10orf76 0 genome.wustl.edu 37 10 103735023 103735023 + Missense_Mutation SNP A A T TCGA-AB-2985-03A-01D-0739-09 TCGA-AB-2985-11A-01D-0739-09 A A A T A A Verified Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq 1 dbGAP Illumina HiSeq 1e7d69a3-f69c-4d3d-98cd-965347b3150c 139677d5-471a-40b7-89ef-807034101853 10 103725013 103725013 A T SNP C10orf76 NM_024541.2 human genbank 54_36p -1 validated missense c.1441 p.Y481N 1.000 HMMPfam_DUF1741 HMMPfam_DUF1741 - no_errors 1183 14 1.17 764 107 12.27 55 5 8.33 +RBM41 0 genome.wustl.edu 37 X 106310914 106310914 + Missense_Mutation SNP A A C TCGA-AB-2986-03A-01D-0739-09 TCGA-AB-2986-11A-01D-0739-09 A A A C A A Verified Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq 1 dbGAP Illumina HiSeq f389f28b-93c3-460a-9dcf-9f09d253b4be d6e1248c-8bb3-4040-a0d2-c010edc8e56d X 106197570 106197570 A C SNP RBM41 NM_018301.2 human genbank 54_36p -1 provisional missense c.1085 p.I362R 0.636 HMMPfam_RRM_1,HMMSmart_SM00360,superfamily_RNA-binding domain RBD HMMPfam_RRM_1,HMMSmart_SM00360,superfamily_RNA-binding domain RBD - no_errors 620 42 6.34 693 539 43.75 21 0 0.00 +FRMPD3 0 genome.wustl.edu 37 X 106841358 106841358 + Missense_Mutation SNP C C A TCGA-AB-2986-03A-01D-0739-09 TCGA-AB-2986-11A-01D-0739-09 C C C A C C Verified Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq 1 dbGAP Illumina HiSeq f389f28b-93c3-460a-9dcf-9f09d253b4be d6e1248c-8bb3-4040-a0d2-c010edc8e56d X 106728014 106728014 C A SNP FRMPD3 XM_042978.1 human genbank 54_36p +1 model missense c.2348 p.P783H 1.000 NULL HMMPfam_PDZ,HMMSmart_PDZ,superfamily_PDZ,PatternScan_FERM_1,PatternScan_FERM_2,HMMPfam_FERM_M,superfamily_FERM_3-hlx,HMMSmart_B41 - no_errors 911 64 6.56 620 593 48.89 NA NA NA +GLRA1 0 genome.wustl.edu 37 5 151304094 151304094 + Missense_Mutation SNP G G A TCGA-AB-2986-03A-01D-0739-09 TCGA-AB-2986-11A-01D-0739-09 G G G A G G Verified Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq 1 dbGAP Illumina HiSeq f389f28b-93c3-460a-9dcf-9f09d253b4be d6e1248c-8bb3-4040-a0d2-c010edc8e56d 5 151284287 151284287 G A SNP GLRA1 NM_000171.3 human genbank 54_36p -1 reviewed missense c.17 p.T6I 1.000 NULL HMMPfam_Neur_chan_memb,superfamily_Neurotransmitter-gated ion-channel transmembrane pore,HMMPfam_Neur_chan_LBD,superfamily_Nicotinic receptor ligand binding domain-like,PatternScan_NEUROTR_ION_CHANNEL - no_errors 1322 76 5.43 852 609 41.68 NA NA NA +POU6F2 0 genome.wustl.edu 37 7 39379315 39379315 + Nonsense_Mutation SNP C C T TCGA-AB-2986-03A-01D-0739-09 TCGA-AB-2986-11A-01D-0739-09 C C C T C C Verified Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq 1 dbGAP Illumina HiSeq f389f28b-93c3-460a-9dcf-9f09d253b4be d6e1248c-8bb3-4040-a0d2-c010edc8e56d 7 39345840 39345840 C T SNP POU6F2 NM_007252.2 human genbank 54_36p +1 validated nonsense c.586 p.Q196* 0.001 NULL HMMPfam_Pou,HMMSmart_SM00352,PatternScan_POU_1,PatternScan_POU_2,HMMPfam_Homeobox,HMMSmart_SM00389,superfamily_Homeodomain-like,superfamily_lambda repressor-like DNA-binding domains - no_errors 415 13 3.03 223 187 45.39 NA NA NA +RAD21 0 genome.wustl.edu 37 8 117869560 117869560 + Nonsense_Mutation SNP C C A TCGA-AB-2986-03A-01D-0739-09 TCGA-AB-2986-11A-01D-0739-09 C C C A C C Verified Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq 1 dbGAP Illumina HiSeq f389f28b-93c3-460a-9dcf-9f09d253b4be d6e1248c-8bb3-4040-a0d2-c010edc8e56d 8 117938741 117938741 C A SNP RAD21 NM_006265.2 human genbank 54_36p -1 reviewed nonsense c.634 p.E212* 1.000 NULL HMMPfam_Rad21_Rec8,HMMPfam_Rad21_Rec8_N - no_errors 788 20 2.48 590 413 41.09 46 1 2.13 +OR51S1 0 genome.wustl.edu 37 11 4870245 4870245 + Missense_Mutation SNP C C T TCGA-AB-2986-03A-01D-0739-09 TCGA-AB-2986-11A-01D-0739-09 C C C T C C Verified Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq 1 dbGAP Illumina HiSeq f389f28b-93c3-460a-9dcf-9f09d253b4be d6e1248c-8bb3-4040-a0d2-c010edc8e56d 11 4826821 4826821 C T SNP OR51S1 NM_001004758.1 human genbank 54_36p -1 provisional missense c.194 p.R65H 0.000 HMMPfam_7tm_1,superfamily_Family A G protein-coupled receptor-like HMMPfam_7tm_1,PatternScan_SPASE_I_1,superfamily_Family A G protein-coupled receptor-like - no_errors 2114 101 4.55 1045 810 43.32 NA NA NA +LOC644992 0 genome.wustl.edu 37 11 13632148 13632148 + Missense_Mutation SNP T T C TCGA-AB-2986-03A-01D-0739-09 TCGA-AB-2986-11A-01D-0739-09 T T T C T T Verified Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq 1 dbGAP Illumina HiSeq f389f28b-93c3-460a-9dcf-9f09d253b4be d6e1248c-8bb3-4040-a0d2-c010edc8e56d 11 13588724 13588724 T C SNP LOC644992 XM_932569.1 human genbank 54_36p -1 model missense c.106 p.R36G 0.983 HMMPfam_HMG14_17,HMMSmart_SM00527 HMMPfam_HMG14_17,HMMSmart_SM00527 - no_errors 709 40 5.34 426 391 47.86 NA NA NA +KRT79 0 genome.wustl.edu 37 12 53215780 53215780 + Missense_Mutation SNP C C T TCGA-AB-2986-03A-01D-0739-09 TCGA-AB-2986-11A-01D-0739-09 C C C T C C Verified Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq 1 dbGAP Illumina HiSeq f389f28b-93c3-460a-9dcf-9f09d253b4be d6e1248c-8bb3-4040-a0d2-c010edc8e56d 12 51502047 51502047 C T SNP KRT79 NM_175834.2 human genbank 54_36p -1 validated missense c.1484 p.G495E 0.055 NULL superfamily_Prefoldin,HMMPfam_Filament,PatternScan_IF - no_errors 803 64 7.37 272 234 46.25 NA NA NA +RNASE9 0 genome.wustl.edu 37 14 21025166 21025166 + Silent SNP C C T TCGA-AB-2986-03A-01D-0739-09 TCGA-AB-2986-11A-01D-0739-09 C C C T C C Verified Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq 1 dbGAP Illumina HiSeq f389f28b-93c3-460a-9dcf-9f09d253b4be d6e1248c-8bb3-4040-a0d2-c010edc8e56d 14 20095006 20095006 C T SNP RNASE9 NM_001001673.3 human genbank 54_36p -1 provisional silent c.63 p.L21 0.000 NULL superfamily_RNase A-like - no_errors 572 33 5.45 458 370 44.58 NA NA NA +CTSG 0 genome.wustl.edu 37 14 25043961 25043961 + Missense_Mutation SNP G G T TCGA-AB-2986-03A-01D-0739-09 TCGA-AB-2986-11A-01D-0739-09 G G G T G G Verified Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq 1 dbGAP Illumina HiSeq f389f28b-93c3-460a-9dcf-9f09d253b4be d6e1248c-8bb3-4040-a0d2-c010edc8e56d 14 24113801 24113801 G T SNP CTSG NM_001911.2 human genbank 54_36p -1 reviewed missense c.259 p.Q87K 0.994 HMMPfam_Trypsin,HMMSmart_Tryp_SPc,superfamily_Pept_Ser_Cys HMMPfam_Trypsin,HMMSmart_Tryp_SPc,superfamily_Pept_Ser_Cys,PatternScan_TRYPSIN_HIS,PatternScan_TRYPSIN_SER - no_errors 1179 34 2.80 913 778 45.98 133 135 50.19 +ENSG00000210408 0 genome.wustl.edu 37 14 84216800 84216800 + RNA SNP G G A TCGA-AB-2986-03A-01D-0739-09 TCGA-AB-2986-11A-01D-0739-09 G G G A G G Verified Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq 1 dbGAP Illumina HiSeq f389f28b-93c3-460a-9dcf-9f09d253b4be d6e1248c-8bb3-4040-a0d2-c010edc8e56d 14 83286553 83286553 G A SNP ENSG00000210408 ENST00000387673 human ensembl 54_36p +1 novel rna NULL NULL 0.971 - - - pseudogene 658 41 5.87 519 408 44.01 NA NA NA +FLRT2 0 genome.wustl.edu 37 14 86089411 86089411 + Missense_Mutation SNP A A T TCGA-AB-2986-03A-01D-0739-09 TCGA-AB-2986-11A-01D-0739-09 A A A T A A Verified Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq 1 dbGAP Illumina HiSeq f389f28b-93c3-460a-9dcf-9f09d253b4be d6e1248c-8bb3-4040-a0d2-c010edc8e56d 14 85159164 85159164 A T SNP FLRT2 NM_013231.4 human genbank 54_36p +1 reviewed missense c.1553 p.Y518F 0.501 NULL HMMPfam_LRRNT,HMMSmart_LRRNT,HMMPfam_LRRCT,HMMSmart_LRRCT,HMMPfam_LRR_1,HMMSmart_LRR_TYP,HMMPfam_fn3,HMMSmart_FN3,superfamily_FN_III-like,superfamily_SSF52058 - no_errors 654 40 5.75 464 360 43.64 NA NA NA +NAE1 0 genome.wustl.edu 37 16 66857169 66857169 + Missense_Mutation SNP C C T TCGA-AB-2986-03A-01D-0739-09 TCGA-AB-2986-11A-01D-0739-09 C C C T C C Verified Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq 1 dbGAP Illumina HiSeq f389f28b-93c3-460a-9dcf-9f09d253b4be d6e1248c-8bb3-4040-a0d2-c010edc8e56d 16 65414670 65414670 C T SNP NAE1 NM_003905.1 human genbank 54_36p -1 reviewed missense c.362 p.C121Y 1.000 HMMPfam_ThiF,superfamily_Activating enzymes of the ubiquitin-like proteins HMMPfam_ThiF,superfamily_Activating enzymes of the ubiquitin-like proteins - no_errors 158 10 5.95 257 152 37.16 29 19 39.58 +NPM1 0 genome.wustl.edu 37 5 170837547 170837548 + Frame_Shift_Ins INS - - CCTG TCGA-AB-2986-03A-01D-0739-09 TCGA-AB-2986-11A-01D-0739-09 - - - CCTG - - Verified Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq 1 dbGAP Illumina HiSeq f389f28b-93c3-460a-9dcf-9f09d253b4be d6e1248c-8bb3-4040-a0d2-c010edc8e56d 5 170770152 170770153 - CCTG INS NPM1 NM_002520.1 human genbank 54_36p +1 validated frame_shift_ins c.863_864 p.W288fs 1.000:1.000 NULL HMMPfam_Nucleoplasmin,superfamily_Nucleoplasmin-like core domain - no_errors NA NA NA NA NA NA NA NA NA +FLT3 0 genome.wustl.edu 37 13 28608263 28608264 + In_Frame_Ins INS - - CATATTCTCTGAAATCAACGTAGAAGTACTCATTATCTGAGGAGCCGG TCGA-AB-2986-03A-01D-0739-09 TCGA-AB-2986-11A-01D-0739-09 - - - CATATTCTCTGAAATCAACGTAGAAGTACTCATTATCTGAGGAGCCGG - - Verified Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq 1 dbGAP Illumina HiSeq f389f28b-93c3-460a-9dcf-9f09d253b4be d6e1248c-8bb3-4040-a0d2-c010edc8e56d 13 27506263 27506264 - CATATTCTCTGAAATCAACGTAGAAGTACTCATTATCTGAGGAGCCGG INS FLT3 NM_004119.2 human genbank 54_36p -1 reviewed in_frame_ins c.1793_1792 p.598in_frame_insAGSSDNEYFYVDFREY 0.821:0.816 superfamily_Kinase_like HMMPfam_Pkinase_Tyr,HMMSmart_TyrKc,PatternScan_RECEPTOR_TYR_KIN_III,PatternScan_PROTEIN_KINASE_TYR,superfamily_Kinase_like,HMMPfam_ig,PatternScan_PROTEIN_KINASE_ATP,superfamily_SSF48726 - no_errors NA NA NA NA NA NA NA NA NA +LOC388276 0 genome.wustl.edu 37 16 52085773 52085773 + RNA DEL C C - TCGA-AB-2986-03A-01D-0739-09 TCGA-AB-2986-11A-01D-0739-09 C C C - C C Verified Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq 1 dbGAP Illumina HiSeq f389f28b-93c3-460a-9dcf-9f09d253b4be d6e1248c-8bb3-4040-a0d2-c010edc8e56d 16 50643274 50643274 C - DEL LOC388276 XR_041361.1 human genbank 54_36p -1 model rna NULL NULL 0.001 - - - no_errors 1325 49 3.54 955 618 36.81 0 0 0.00 +DNMT3A 0 genome.wustl.edu 37 2 25457242 25457242 + Missense_Mutation SNP C C T TCGA-AB-2987-03A-01D-0739-09 TCGA-AB-2987-11A-01D-0739-09 C C C T C C Verified Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq 1 dbGAP Illumina HiSeq 372359dc-f250-4f75-a817-01c92fe03688 e0cc389e-0e7c-4e40-885e-4b3427f1cc36 2 25310746 25310746 C T SNP DNMT3A NM_022552.3 human genbank 54_36p -1 reviewed missense c.2645 p.R882H 1.000 superfamily_S-adenosyl-L-methionine-dependent methyltransferases HMMPfam_PWWP,HMMSmart_SM00293,HMMPfam_DNA_methylase,superfamily_FYVE/PHD zinc finger,PatternScan_C5_MTASE_1,superfamily_S-adenosyl-L-methionine-dependent methyltransferases,superfamily_Tudor/PWWP/MBT - no_errors 965 71 6.83 592 301 33.63 16 7 30.43 +PDGFRA 0 genome.wustl.edu 37 4 55156567 55156567 + Missense_Mutation SNP G G C TCGA-AB-2987-03A-01D-0739-09 TCGA-AB-2987-11A-01D-0739-09 G G G C G G Verified Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq 1 dbGAP Illumina HiSeq 372359dc-f250-4f75-a817-01c92fe03688 e0cc389e-0e7c-4e40-885e-4b3427f1cc36 4 54851324 54851324 G C SNP PDGFRA NM_006206.4 human genbank 54_36p +1 reviewed missense c.2968 p.G990R 0.999 NULL HMMPfam_Pkinase_Tyr,HMMSmart_SM00219,PatternScan_RECEPTOR_TYR_KIN_III,HMMSmart_SM00220,HMMSmart_SM00408,HMMSmart_SM00409,PatternScan_PROTEIN_KINASE_TYR,superfamily_Protein kinase-like (PK-like),HMMPfam_I-set,HMMPfam_ig,PatternScan_PROTEIN_KINASE_ATP,superfamily_Immunoglobulin - no_errors 1526 93 5.74 924 426 31.44 NA NA NA +ENC1 0 genome.wustl.edu 37 5 73930898 73930898 + Missense_Mutation SNP C C G TCGA-AB-2987-03A-01D-0739-09 TCGA-AB-2987-11A-01D-0739-09 C C C G C C Verified Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq 1 dbGAP Illumina HiSeq 372359dc-f250-4f75-a817-01c92fe03688 e0cc389e-0e7c-4e40-885e-4b3427f1cc36 5 73966654 73966654 C G SNP ENC1 NM_003633.2 human genbank 54_36p -1 validated missense c.1413 p.R471S 1.000 HMMPfam_Kelch_1,HMMSmart_SM00612,superfamily_Galactose oxidase central domain HMMSmart_SM00225,HMMPfam_Kelch_1,HMMSmart_SM00612,superfamily_Galactose oxidase central domain,superfamily_POZ domain,HMMPfam_BACK,HMMPfam_BTB - no_errors 945 65 6.43 506 247 32.76 4 5 55.56 +PTPRE 0 genome.wustl.edu 37 10 129854424 129854424 + Missense_Mutation SNP T T A TCGA-AB-2987-03A-01D-0739-09 TCGA-AB-2987-11A-01D-0739-09 T T T A T T Verified Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq 1 dbGAP Illumina HiSeq 372359dc-f250-4f75-a817-01c92fe03688 e0cc389e-0e7c-4e40-885e-4b3427f1cc36 10 129744414 129744414 T A SNP PTPRE NM_006504.4 human genbank 54_36p +1 reviewed missense c.458 p.L153Q 0.997 HMMSmart_SM00194,superfamily_(Phosphotyrosine protein) phosphatases II HMMPfam_Y_phosphatase,HMMSmart_SM00194,HMMSmart_SM00404,PatternScan_TYR_PHOSPHATASE_1,superfamily_(Phosphotyrosine protein) phosphatases II - no_errors 1466 107 6.80 1104 553 33.29 105 114 52.05 +KRAS 0 genome.wustl.edu 37 12 25398281 25398281 + Missense_Mutation SNP C C T rs112445441 TCGA-AB-2987-03A-01D-0739-09 TCGA-AB-2987-11A-01D-0739-09 C C C T C C Verified Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq 1 dbGAP Illumina HiSeq 372359dc-f250-4f75-a817-01c92fe03688 e0cc389e-0e7c-4e40-885e-4b3427f1cc36 12 25289548 25289548 C T SNP KRAS NM_033360.3 human genbank 54_36p -1 reviewed missense c.38 p.G13D 1.000 HMMSmart_SM00176,HMMSmart_SM00173,HMMSmart_SM00174,HMMSmart_SM00175,HMMPfam_Ras,superfamily_P-loop containing nucleoside triphosphate hydrolases HMMSmart_SM00176,HMMSmart_SM00173,HMMSmart_SM00174,HMMSmart_SM00175,HMMPfam_Ras,superfamily_P-loop containing nucleoside triphosphate hydrolases - no_errors 962 54 5.29 1012 459 31.14 9 10 52.63 +KRTAP10-8 0 genome.wustl.edu 37 21 46032438 46032438 + Missense_Mutation SNP G G A TCGA-AB-2987-03A-01D-0739-09 TCGA-AB-2987-11A-01D-0739-09 G G G A G G Verified Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq 1 dbGAP Illumina HiSeq 372359dc-f250-4f75-a817-01c92fe03688 e0cc389e-0e7c-4e40-885e-4b3427f1cc36 21 44856866 44856866 G A SNP KRTAP10-8 NM_198695.1 human genbank 54_36p +1 provisional missense c.421 p.A141T 0.041 NULL HMMPfam_Keratin_B2 - no_errors 1919 119 5.82 1206 578 31.97 NA NA NA +NPM1 0 genome.wustl.edu 37 5 170837547 170837548 + Frame_Shift_Ins INS - - TCTG TCGA-AB-2987-03A-01D-0739-09 TCGA-AB-2987-11A-01D-0739-09 - - - TCTG - - Verified Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq 1 dbGAP Illumina HiSeq 372359dc-f250-4f75-a817-01c92fe03688 e0cc389e-0e7c-4e40-885e-4b3427f1cc36 5 170770152 170770153 - TCTG INS NPM1 NM_002520.1 human genbank 54_36p +1 validated frame_shift_ins c.863_864 p.W288fs 1.000:1.000 NULL HMMPfam_Nucleoplasmin,superfamily_Nucleoplasmin-like core domain - no_errors NA NA NA NA NA NA NA NA NA +TKTL1 0 genome.wustl.edu 37 X 153557894 153557894 + Silent SNP C C T TCGA-AB-2988-03A-01D-0739-09 TCGA-AB-2988-11A-01D-0739-09 C C C T C C Verified Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq 1 dbGAP Illumina HiSeq c46cad3f-6265-4baf-9ee9-fa7394a27373 fe6bea4d-e433-4977-ab67-b7aa610de359 X 153211088 153211088 C T SNP TKTL1 NM_012253.1 human genbank 54_36p +1 validated silent c.1647 p.A549 0.915 HMMPfam_Transketolase_C,superfamily_TK C-terminal domain-like HMMPfam_Transketolase_N,HMMPfam_Transket_pyr,PatternScan_TRANSKETOLASE_2,HMMPfam_Transketolase_C,superfamily_TK C-terminal domain-like,superfamily_Thiamin diphosphate-binding fold (THDP-binding) - no_errors 602 17 2.75 308 215 41.11 0 0 0.00 +GUCA2A 0 genome.wustl.edu 37 1 42629190 42629190 + Missense_Mutation SNP A A G TCGA-AB-2988-03A-01D-0739-09 TCGA-AB-2988-11A-01D-0739-09 A A A G A A Verified Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq 1 dbGAP Illumina HiSeq c46cad3f-6265-4baf-9ee9-fa7394a27373 fe6bea4d-e433-4977-ab67-b7aa610de359 1 42401777 42401777 A G SNP GUCA2A NM_033553.2 human genbank 54_36p -1 validated missense c.167 p.F56S 0.000 HMMPfam_Guanylin,superfamily_Proguanylin HMMPfam_Guanylin,superfamily_Proguanylin,PatternScan_2FE2S_FER_1 - no_errors 246 3 1.20 150 109 42.08 0 0 0.00 +DNMT3A 0 genome.wustl.edu 37 2 25457161 25457161 + Missense_Mutation SNP A A C TCGA-AB-2988-03A-01D-0739-09 TCGA-AB-2988-11A-01D-0739-09 A A A C A A Verified Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq 1 dbGAP Illumina HiSeq c46cad3f-6265-4baf-9ee9-fa7394a27373 fe6bea4d-e433-4977-ab67-b7aa610de359 2 25310665 25310665 A C SNP DNMT3A NM_022552.3 human genbank 54_36p -1 reviewed missense c.2726 p.F909C 1.000 superfamily_S-adenosyl-L-methionine-dependent methyltransferases HMMPfam_PWWP,HMMSmart_SM00293,HMMPfam_DNA_methylase,superfamily_FYVE/PHD zinc finger,PatternScan_C5_MTASE_1,superfamily_S-adenosyl-L-methionine-dependent methyltransferases,superfamily_Tudor/PWWP/MBT - no_errors 703 21 2.90 329 274 45.44 54 41 43.16 +SLC17A3 0 genome.wustl.edu 37 6 25850330 25850330 + Missense_Mutation SNP G G A TCGA-AB-2988-03A-01D-0739-09 TCGA-AB-2988-11A-01D-0739-09 G G G A G G Verified Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq 1 dbGAP Illumina HiSeq c46cad3f-6265-4baf-9ee9-fa7394a27373 fe6bea4d-e433-4977-ab67-b7aa610de359 6 25958309 25958309 G A SNP SLC17A3 NM_001098486.1 human genbank 54_36p -1 validated missense c.1069 p.L357F 1.000 HMMPfam_MFS_1,superfamily_MFS_gen_substrate_transporter HMMPfam_MFS_1,superfamily_MFS_gen_substrate_transporter - no_errors 810 29 3.45 762 619 44.82 0 0 0.00 +LRWD1 0 genome.wustl.edu 37 7 102106693 102106693 + Missense_Mutation SNP C C A TCGA-AB-2988-03A-01D-0739-09 TCGA-AB-2988-11A-01D-0739-09 C C C A C C Verified Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq 1 dbGAP Illumina HiSeq c46cad3f-6265-4baf-9ee9-fa7394a27373 fe6bea4d-e433-4977-ab67-b7aa610de359 7 101893698 101893698 C A SNP LRWD1 NM_152892.1 human genbank 54_36p +1 provisional missense c.408 p.N136K 0.923 superfamily_SSF52058 HMMPfam_LRR_1,HMMSmart_WD40,HMMSmart_LRR_TYP,superfamily_WD40_like,PatternScan_WD_REPEATS_1,HMMPfam_WD40,superfamily_SSF52058 - no_errors 194 2 1.02 110 95 46.34 12 19 61.29 +BAAT 0 genome.wustl.edu 37 9 104124840 104124840 + Missense_Mutation SNP G G A TCGA-AB-2988-03A-01D-0739-09 TCGA-AB-2988-11A-01D-0739-09 G G G A G G Verified Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq 1 dbGAP Illumina HiSeq c46cad3f-6265-4baf-9ee9-fa7394a27373 fe6bea4d-e433-4977-ab67-b7aa610de359 9 103164661 103164661 G A SNP BAAT NM_001701.1 human genbank 54_36p -1 reviewed missense c.1127 p.T376M 0.000 HMMPfam_BAAT_C,superfamily_SSF53474 HMMPfam_Bile_Hydr_Trans,HMMPfam_BAAT_C,superfamily_SSF53474 - no_errors 757 20 2.57 641 600 48.35 0 0 0.00 +MUC5B 0 genome.wustl.edu 37 11 1269769 1269769 + Missense_Mutation SNP C C A TCGA-AB-2988-03A-01D-0739-09 TCGA-AB-2988-11A-01D-0739-09 C C C A C C Verified Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq 1 dbGAP Illumina HiSeq c46cad3f-6265-4baf-9ee9-fa7394a27373 fe6bea4d-e433-4977-ab67-b7aa610de359 11 1226345 1226345 C A SNP MUC5B NM_002458.1 human genbank 54_36p +1 validated missense c.11668 p.P3890T 0.000 NULL HMMPfam_VWC,HMMSmart_SM00214,PatternScan_VWFC_1,HMMPfam_VWD,HMMSmart_SM00216,superfamily_Serine proterase inhibitors,HMMSmart_SM00041,PatternScan_CTCK_1,HMMPfam_Cys_knot,HMMSmart_SM00215,superfamily_PMP inhibitors,HMMPfam_C8,HMMPfam_TIL - no_errors 4 1 20.00 8 12 60.00 0 0 0.00 +MUC5B 0 genome.wustl.edu 37 11 1272152 1272152 + Missense_Mutation SNP C C T TCGA-AB-2988-03A-01D-0739-09 TCGA-AB-2988-11A-01D-0739-09 C C C T C C Verified Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq 1 dbGAP Illumina HiSeq c46cad3f-6265-4baf-9ee9-fa7394a27373 fe6bea4d-e433-4977-ab67-b7aa610de359 11 1228728 1228728 C T SNP MUC5B NM_002458.1 human genbank 54_36p +1 validated missense c.14051 p.T4684I 0.023 NULL HMMPfam_VWC,HMMSmart_SM00214,PatternScan_VWFC_1,HMMPfam_VWD,HMMSmart_SM00216,superfamily_Serine proterase inhibitors,HMMSmart_SM00041,PatternScan_CTCK_1,HMMPfam_Cys_knot,HMMSmart_SM00215,superfamily_PMP inhibitors,HMMPfam_C8,HMMPfam_TIL - no_errors 3 0 0.00 0 1 100.00 0 0 0.00 +SCEL 0 genome.wustl.edu 37 13 78216863 78216863 + Missense_Mutation SNP T T C TCGA-AB-2988-03A-01D-0739-09 TCGA-AB-2988-11A-01D-0739-09 T T T C T T Verified Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq 1 dbGAP Illumina HiSeq c46cad3f-6265-4baf-9ee9-fa7394a27373 fe6bea4d-e433-4977-ab67-b7aa610de359 13 77114864 77114864 T C SNP SCEL NM_144777.2 human genbank 54_36p +1 reviewed missense c.1970 p.L657S 1.000 HMMSmart_SM00132,PatternScan_LIM_DOMAIN_1 HMMSmart_SM00132,PatternScan_LIM_DOMAIN_1 - no_errors 467 17 3.51 72 449 86.18 0 0 0.00 +ANG 0 genome.wustl.edu 37 14 21161742 21161742 + Missense_Mutation SNP G G A TCGA-AB-2988-03A-01D-0739-09 TCGA-AB-2988-11A-01D-0739-09 G G G A G G Verified Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq 1 dbGAP Illumina HiSeq c46cad3f-6265-4baf-9ee9-fa7394a27373 fe6bea4d-e433-4977-ab67-b7aa610de359 14 20231582 20231582 G A SNP ANG NM_001097577.2 human genbank 54_36p +1 reviewed missense c.19 p.V7I 0.001 NULL HMMPfam_RnaseA,HMMSmart_SM00092,PatternScan_RNASE_PANCREATIC,superfamily_RNase A-like - no_errors 551 5 0.90 346 314 47.43 0 0 0.00 +SPTBN5 0 genome.wustl.edu 37 15 42168393 42168393 + Silent SNP G G A TCGA-AB-2988-03A-01D-0739-09 TCGA-AB-2988-11A-01D-0739-09 G G G A G G Verified Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq 1 dbGAP Illumina HiSeq c46cad3f-6265-4baf-9ee9-fa7394a27373 fe6bea4d-e433-4977-ab67-b7aa610de359 15 39955685 39955685 G A SNP SPTBN5 NM_016642.2 human genbank 54_36p -1 validated silent c.4041 p.N1347 0.001 HMMPfam_Spectrin,HMMSmart_SM00150,superfamily_Spectrin repeat PatternScan_ACTININ_1,PatternScan_ACTININ_2,HMMPfam_CH,HMMSmart_SM00033,HMMPfam_PH,HMMSmart_SM00233,HMMPfam_Spectrin,superfamily_Calponin-homology domain CH-domain,HMMSmart_SM00150,superfamily_Spectrin repeat,superfamily_PH domain-like - no_errors 194 7 3.48 105 102 49.28 0 0 0.00 +PKD1L3 0 genome.wustl.edu 37 16 72016107 72016107 + Silent SNP G G A TCGA-AB-2988-03A-01D-0739-09 TCGA-AB-2988-11A-01D-0739-09 G G G A G G Verified Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq 1 dbGAP Illumina HiSeq c46cad3f-6265-4baf-9ee9-fa7394a27373 fe6bea4d-e433-4977-ab67-b7aa610de359 16 70573608 70573608 G A SNP PKD1L3 ENST00000335106 human ensembl 54_36p -1 known silent c.994 p.L332 0.720 NULL HMMPfam_GPS,HMMSmart_SM00303,HMMPfam_PLAT,HMMSmart_SM00308,HMMPfam_Ion_trans,superfamily_Lipase/lipooxygenase domain (PLAT/LH2 domain),superfamily_C-type lectin-like - no_errors 599 14 2.28 323 309 48.74 0 1 100.00 +ABCA10 0 genome.wustl.edu 37 17 67170917 67170917 + Missense_Mutation SNP T T C TCGA-AB-2988-03A-01D-0739-09 TCGA-AB-2988-11A-01D-0739-09 T T T C T T Verified Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq 1 dbGAP Illumina HiSeq c46cad3f-6265-4baf-9ee9-fa7394a27373 fe6bea4d-e433-4977-ab67-b7aa610de359 17 64682512 64682512 T C SNP ABCA10 NM_080282.3 human genbank 54_36p -1 reviewed missense c.2879 p.K960R 0.597 NULL HMMPfam_ABC_tran,HMMSmart_SM00382,PatternScan_ABC_TRANSPORTER_1,superfamily_P-loop containing nucleoside triphosphate hydrolases - no_errors 461 7 1.50 363 305 45.66 0 0 0.00 +MYH14 0 genome.wustl.edu 37 19 50783384 50783384 + Missense_Mutation SNP C C G TCGA-AB-2988-03A-01D-0739-09 TCGA-AB-2988-11A-01D-0739-09 C C C G C C Verified Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq 1 dbGAP Illumina HiSeq c46cad3f-6265-4baf-9ee9-fa7394a27373 fe6bea4d-e433-4977-ab67-b7aa610de359 19 55475196 55475196 C G SNP MYH14 NM_001077186.1 human genbank 54_36p +1 reviewed missense c.4024 p.L1342V 1.000 HMMPfam_Myosin_tail_1 HMMPfam_IQ,HMMSmart_SM00015,HMMPfam_Myosin_head,HMMSmart_SM00242,HMMPfam_Myosin_tail_1,HMMPfam_Myosin_N,superfamily_Prefoldin,superfamily_P-loop containing nucleoside triphosphate hydrolases - no_errors 896 31 3.34 317 293 47.95 0 0 0.00 +CDH4 0 genome.wustl.edu 37 20 60318829 60318829 + Missense_Mutation SNP C C T TCGA-AB-2988-03A-01D-0739-09 TCGA-AB-2988-11A-01D-0739-09 C C C T C C Verified Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq 1 dbGAP Illumina HiSeq c46cad3f-6265-4baf-9ee9-fa7394a27373 fe6bea4d-e433-4977-ab67-b7aa610de359 20 59752224 59752224 C T SNP CDH4 NM_001794.2 human genbank 54_36p +1 reviewed missense c.380 p.P127L 0.000 superfamily_Cadherin HMMPfam_Cadherin_C,HMMPfam_Cadherin,HMMSmart_CA,PatternScan_CADHERIN_1,HMMPfam_Cadherin_pro,superfamily_Cadherin - no_errors 289 6 2.03 131 121 48.02 0 0 0.00 +LOC400879 0 genome.wustl.edu 37 22 16157982 16157982 + RNA SNP G G T TCGA-AB-2988-03A-01D-0739-09 TCGA-AB-2988-11A-01D-0739-09 G G G T G G Verified Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq 1 dbGAP Illumina HiSeq c46cad3f-6265-4baf-9ee9-fa7394a27373 fe6bea4d-e433-4977-ab67-b7aa610de359 22 14537982 14537982 G T SNP LOC400879 XR_041650.1 human genbank 54_36p -1 model rna NULL NULL 0.000 - - - no_errors 4 2 33.33 4 0 0.00 0 0 0.00 +NEFH 0 genome.wustl.edu 37 22 29885618 29885618 + Silent SNP T T A TCGA-AB-2988-03A-01D-0739-09 TCGA-AB-2988-11A-01D-0739-09 T T T A T T Verified Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq 1 dbGAP Illumina HiSeq c46cad3f-6265-4baf-9ee9-fa7394a27373 fe6bea4d-e433-4977-ab67-b7aa610de359 22 28215618 28215618 T A SNP NEFH NM_021076.3 human genbank 54_36p +1 reviewed silent c.1989 p.P663 0.041 NULL HMMPfam_DUF1388,HMMPfam_Filament,PatternScan_IF - no_errors 375 1 0.26 528 121 18.33 4 0 0.00 +NPM1 0 genome.wustl.edu 37 5 170837547 170837548 + Frame_Shift_Ins INS - - CATG TCGA-AB-2988-03A-01D-0739-09 TCGA-AB-2988-11A-01D-0739-09 - - - CATG - - Verified Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq 1 dbGAP Illumina HiSeq c46cad3f-6265-4baf-9ee9-fa7394a27373 fe6bea4d-e433-4977-ab67-b7aa610de359 5 170770152 170770153 - CATG INS NPM1 NM_002520.1 human genbank 54_36p +1 validated frame_shift_ins c.863_864 p.W288fs 1.000:1.000 NULL HMMPfam_Nucleoplasmin,superfamily_Nucleoplasmin-like core domain - no_errors NA NA NA NA NA NA NA NA NA +FLT3 0 genome.wustl.edu 37 13 28608214 28608215 + In_Frame_Ins INS - - TTACCAAACTCTAAATTTTCTCTTGGAAACTCCCAT TCGA-AB-2988-03A-01D-0739-09 TCGA-AB-2988-11A-01D-0739-09 - - - TTACCAAACTCTAAATTTTCTCTTGGAAACTCCCAT - - Verified Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq 1 dbGAP Illumina HiSeq c46cad3f-6265-4baf-9ee9-fa7394a27373 fe6bea4d-e433-4977-ab67-b7aa610de359 13 27506214 27506215 - TTACCAAACTCTAAATTTTCTCTTGGAAACTCCCAT INS FLT3 NM_004119.2 human genbank 54_36p -1 reviewed in_frame_ins in_frame_ins 0.779:0.796 - - - no_errors NA NA NA NA NA NA NA NA NA +LOC100130211 0 genome.wustl.edu 37 X 85415609 85415609 + Missense_Mutation SNP C C T TCGA-AB-2989-03A-01D-0739-09 TCGA-AB-2989-11A-01D-0739-09 C C C T C C Verified Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq 1 dbGAP Illumina HiSeq b385b03f-4ee1-4be9-9291-9b5fdfd66384 baa70711-9504-4ebc-8e86-a870629d4161 X 85302265 85302265 C T SNP LOC100130211 XM_001717632.1 human genbank 54_36p -1 model missense c.736 p.G246S 1.000 HMMPfam_GTP_EFTU_D3,superfamily_EF-Tu/eEF-1alpha/eIF2-gamma C-terminal domain HMMPfam_GTP_EFTU,HMMPfam_GTP_EFTU_D3,HMMPfam_GTP_EFTU_D2,superfamily_Translation proteins,superfamily_EF-Tu/eEF-1alpha/eIF2-gamma C-terminal domain,superfamily_P-loop containing nucleoside triphosphate hydrolases - pseudogene 306 10 3.16 105 709 87.10 NA NA NA +RAB25 0 genome.wustl.edu 37 1 156035781 156035781 + Missense_Mutation SNP C C A TCGA-AB-2989-03A-01D-0739-09 TCGA-AB-2989-11A-01D-0739-09 C C C A C C Verified Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq 1 dbGAP Illumina HiSeq b385b03f-4ee1-4be9-9291-9b5fdfd66384 baa70711-9504-4ebc-8e86-a870629d4161 1 154302405 154302405 C A SNP RAB25 NM_020387.2 human genbank 54_36p +1 provisional missense c.123 p.S41R 0.993 HMMSmart_RAB,HMMPfam_Ras,superfamily_SSF52540 HMMSmart_RAB,HMMPfam_Ras,superfamily_SSF52540 - no_errors 718 13 1.78 245 179 42.22 NA NA NA +MAGI1 0 genome.wustl.edu 37 3 65416493 65416493 + Missense_Mutation SNP C C T TCGA-AB-2989-03A-01D-0739-09 TCGA-AB-2989-11A-01D-0739-09 C C C T C C Verified Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq 1 dbGAP Illumina HiSeq b385b03f-4ee1-4be9-9291-9b5fdfd66384 baa70711-9504-4ebc-8e86-a870629d4161 3 65391533 65391533 C T SNP MAGI1 NM_001033057.1 human genbank 54_36p -1 reviewed missense c.1427 p.R476Q 1.000 HMMPfam_PDZ,superfamily_PDZ domain-like HMMPfam_WW,HMMSmart_SM00456,PatternScan_WW_DOMAIN_1,superfamily_WW domain,HMMPfam_PDZ,HMMSmart_SM00228,superfamily_PDZ domain-like,HMMPfam_Guanylate_kin,HMMSmart_SM00072,PatternScan_GUANYLATE_KINASE_1,superfamily_P-loop containing nucleoside triphosphate hydrolases - no_errors 743 12 1.59 1076 843 43.88 NA NA NA +PDK4 0 genome.wustl.edu 37 7 95217098 95217098 + Missense_Mutation SNP G G A TCGA-AB-2989-03A-01D-0739-09 TCGA-AB-2989-11A-01D-0739-09 G G G A G G Verified Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq 1 dbGAP Illumina HiSeq b385b03f-4ee1-4be9-9291-9b5fdfd66384 baa70711-9504-4ebc-8e86-a870629d4161 7 95055034 95055034 G A SNP PDK4 NM_002612.3 human genbank 54_36p -1 reviewed missense c.811 p.P271S 0.859 HMMPfam_HATPase_c,HMMSmart_SM00387,superfamily_ATPase domain of HSP90 chaperone/DNA topoisomerase II/histidine kinase HMMPfam_HATPase_c,HMMSmart_SM00387,superfamily_ATPase domain of HSP90 chaperone/DNA topoisomerase II/histidine kinase,HMMPfam_BCDHK_Adom3,superfamily_alpha-ketoacid dehydrogenase kinase N-terminal domain - no_errors 384 15 3.76 571 425 42.63 NA NA NA +CBL 0 genome.wustl.edu 37 11 119148880 119148880 + Missense_Mutation SNP A A G TCGA-AB-2989-03A-01D-0739-09 TCGA-AB-2989-11A-01D-0739-09 A A A G A A Verified Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq 1 dbGAP Illumina HiSeq b385b03f-4ee1-4be9-9291-9b5fdfd66384 baa70711-9504-4ebc-8e86-a870629d4161 11 118654090 118654090 A G SNP CBL NM_005188.2 human genbank 54_36p +1 reviewed missense c.1100 p.Q367R 1.000 superfamily_SSF57850 HMMPfam_UBA,HMMSmart_RING,HMMPfam_Cbl_N,superfamily_Adaptor_Cbl_N,HMMPfam_Cbl_N2,HMMPfam_Cbl_N3,HMMSmart_UBA,PatternScan_ZF_RING_1,HMMPfam_zf-C3HC4,superfamily_SSF47473,superfamily_SSF55550,superfamily_SSF57850 - no_errors 138 2 1.43 86 208 70.75 NA NA NA +GABRG3 0 genome.wustl.edu 37 15 27772760 27772760 + Silent SNP G G A TCGA-AB-2989-03A-01D-0739-09 TCGA-AB-2989-11A-01D-0739-09 G G G A G G Verified Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq 1 dbGAP Illumina HiSeq b385b03f-4ee1-4be9-9291-9b5fdfd66384 baa70711-9504-4ebc-8e86-a870629d4161 15 25446355 25446355 G A SNP GABRG3 ENST00000333743 human ensembl 54_36p +1 known silent c.1047 p.T349 0.011 HMMPfam_Neur_chan_memb,superfamily_Neu_channel_TM HMMPfam_Neur_chan_memb,superfamily_Neu_channel_TM,HMMPfam_Neur_chan_LBD,superfamily_Neur_chan_LBD,PatternScan_NEUROTR_ION_CHANNEL - no_errors 892 29 3.14 989 833 45.69 NA NA NA +DLX3 0 genome.wustl.edu 37 17 48068899 48068899 + Missense_Mutation SNP G G T TCGA-AB-2989-03A-01D-0739-09 TCGA-AB-2989-11A-01D-0739-09 G G G T G G Verified Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq 1 dbGAP Illumina HiSeq b385b03f-4ee1-4be9-9291-9b5fdfd66384 baa70711-9504-4ebc-8e86-a870629d4161 17 45423898 45423898 G T SNP DLX3 NM_005220.2 human genbank 54_36p -1 reviewed missense c.846 p.N282K 1.000 NULL HMMPfam_Homeobox,HMMSmart_SM00389,superfamily_Homeodomain-like,PatternScan_HOMEOBOX_1 - no_errors 585 12 2.01 206 146 41.36 NA NA NA +SUPT5H 0 genome.wustl.edu 37 19 39949653 39949653 + Missense_Mutation SNP G G C TCGA-AB-2989-03A-01D-0739-09 TCGA-AB-2989-11A-01D-0739-09 G G G C G G Verified Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq 1 dbGAP Illumina HiSeq b385b03f-4ee1-4be9-9291-9b5fdfd66384 baa70711-9504-4ebc-8e86-a870629d4161 19 44641493 44641493 G C SNP SUPT5H NM_003169.2 human genbank 54_36p +1 validated missense c.398 p.R133P 1.000 NULL HMMPfam_Supt5,HMMPfam_KOW,HMMSmart_SM00739,HMMSmart_SM00738,superfamily_Translation proteins SH3-like domain - no_errors 1241 45 3.50 783 521 39.83 NA NA NA +HNRNPUL1 0 genome.wustl.edu 37 19 41787083 41787083 + Missense_Mutation SNP C C T TCGA-AB-2989-03A-01D-0739-09 TCGA-AB-2989-11A-01D-0739-09 C C C T C C Verified Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq 1 dbGAP Illumina HiSeq b385b03f-4ee1-4be9-9291-9b5fdfd66384 baa70711-9504-4ebc-8e86-a870629d4161 19 46478923 46478923 C T SNP HNRNPUL1 NM_007040.3 human genbank 54_36p +1 reviewed missense c.902 p.S301F 1.000 HMMPfam_SPRY,HMMSmart_SM00449 HMMPfam_SAP,HMMSmart_SM00513,HMMPfam_SPRY,HMMSmart_SM00449,superfamily_P-loop containing nucleoside triphosphate hydrolases,superfamily_SAP domain - no_errors 516 6 1.15 537 430 44.42 NA NA NA +TRPC4AP 0 genome.wustl.edu 37 20 33680571 33680571 + Missense_Mutation SNP G G A TCGA-AB-2989-03A-01D-0739-09 TCGA-AB-2989-11A-01D-0739-09 G G G A G G Verified Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq 1 dbGAP Illumina HiSeq b385b03f-4ee1-4be9-9291-9b5fdfd66384 baa70711-9504-4ebc-8e86-a870629d4161 20 33144232 33144232 G A SNP TRPC4AP NM_015638.2 human genbank 54_36p -1 validated missense c.14 p.P5L 0.997 NULL NULL - no_errors 129 1 0.76 77 63 43.75 NA NA NA +GPBP1 0 genome.wustl.edu 37 5 56542934 56542935 + Frame_Shift_Ins INS - - A TCGA-AB-2989-03A-01D-0739-09 TCGA-AB-2989-11A-01D-0739-09 - - - A - - Verified Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq 1 dbGAP Illumina HiSeq b385b03f-4ee1-4be9-9291-9b5fdfd66384 baa70711-9504-4ebc-8e86-a870629d4161 5 56578691 56578692 - A INS GPBP1 NM_022913.1 human genbank 54_36p +1 validated frame_shift_ins c.696_697 p.V233fs 1.000:1.000 NULL NULL - no_errors 168 0 0.00 239 124 34.16 NA NA NA +NPM1 0 genome.wustl.edu 37 5 170837547 170837548 + Frame_Shift_Ins INS - - TCAG TCGA-AB-2989-03A-01D-0739-09 TCGA-AB-2989-11A-01D-0739-09 - - - TCAG - - Verified Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq 1 dbGAP Illumina HiSeq b385b03f-4ee1-4be9-9291-9b5fdfd66384 baa70711-9504-4ebc-8e86-a870629d4161 5 170770152 170770153 - TCAG INS NPM1 NM_002520.1 human genbank 54_36p +1 validated frame_shift_ins c.863_864 p.W288fs 1.000:1.000 NULL HMMPfam_Nucleoplasmin,superfamily_Nucleoplasmin-like core domain - no_errors NA NA NA NA NA NA NA NA NA +WT1 0 genome.wustl.edu 37 11 32417846 32417847 + Frame_Shift_Del DEL AT AT - TCGA-AB-2989-03A-01D-0739-09 TCGA-AB-2989-11A-01D-0739-09 AT AT AT - AT AT Verified Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq 1 dbGAP Illumina HiSeq b385b03f-4ee1-4be9-9291-9b5fdfd66384 baa70711-9504-4ebc-8e86-a870629d4161 11 32374422 32374423 AT - DEL WT1 NM_024426.3 human genbank 54_36p -1 reviewed frame_shift_del c.1206_1205 p.Y402fs 1.000:1.000 HMMPfam_zf-C2H2,PatternScan_ZINC_FINGER_C2H2_1,HMMSmart_SM00355,superfamily_C2H2 and C2HC zinc fingers HMMPfam_WT1,HMMPfam_zf-C2H2,PatternScan_ZINC_FINGER_C2H2_1,HMMSmart_SM00355,superfamily_C2H2 and C2HC zinc fingers - no_errors 0 6 1.60 0 170 35.20 NA NA NA +SOS1 0 genome.wustl.edu 37 2 39249914 39249914 + Missense_Mutation SNP C C T TCGA-AB-2990-03A-01D-0739-09 TCGA-AB-2990-11A-01D-0739-09 C C C T C C Verified Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq 1 dbGAP Illumina HiSeq 8b0e6903-5e1e-4f8b-8f17-8c2442507379 7ff43be0-1381-4220-a165-9a9e17909534 2 39103418 39103418 C T SNP SOS1 NM_005633.3 human genbank 54_36p -1 reviewed missense c.1655 p.R552K 1.000 NULL HMMPfam_RhoGEF,HMMSmart_SM00325,superfamily_DBL homology domain (DH-domain),HMMPfam_RasGEF_N,HMMSmart_SM00229,HMMPfam_PH,HMMSmart_SM00233,HMMPfam_RasGEF,HMMSmart_SM00147,HMMPfam_Histone,superfamily_Ras GEF,superfamily_Histone-fold,PatternScan_RASGEF,superfamily_PH domain-like - no_errors 436 31 6.64 630 438 41.01 16 9 36.00 +EPB41L5 0 genome.wustl.edu 37 2 120849220 120849220 + Missense_Mutation SNP G G A TCGA-AB-2990-03A-01D-0739-09 TCGA-AB-2990-11A-01D-0739-09 G G G A G G Verified Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq 1 dbGAP Illumina HiSeq 8b0e6903-5e1e-4f8b-8f17-8c2442507379 7ff43be0-1381-4220-a165-9a9e17909534 2 120565690 120565690 G A SNP EPB41L5 NM_020909.2 human genbank 54_36p +1 provisional missense c.1133 p.R378Q 0.995 HMMPfam_FA HMMPfam_FA,HMMPfam_FERM_N,HMMPfam_FERM_C,PatternScan_FERM_1,PatternScan_FERM_2,HMMPfam_FERM_M,superfamily_Second domain of FERM,HMMSmart_SM00295,superfamily_PH domain-like,superfamily_Ubiquitin-like - no_errors 443 45 9.22 921 494 34.91 2 3 60.00 +IDH1 0 genome.wustl.edu 37 2 209113113 209113113 + Missense_Mutation SNP G G C rs121913499 TCGA-AB-2990-03A-01D-0739-09 TCGA-AB-2990-11A-01D-0739-09 G G G C G G Verified Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq 1 dbGAP Illumina HiSeq 8b0e6903-5e1e-4f8b-8f17-8c2442507379 7ff43be0-1381-4220-a165-9a9e17909534 2 208821358 208821358 G C SNP IDH1 NM_005896.2 human genbank 54_36p -1 reviewed missense c.394 p.R132G 1.000 HMMPfam_Iso_dh,superfamily_Isocitrate/Isopropylmalate dehydrogenase-like HMMPfam_Iso_dh,PatternScan_IDH_IMDH,superfamily_Isocitrate/Isopropylmalate dehydrogenase-like - no_errors 441 50 10.18 580 405 41.12 35 36 50.70 +CADM2 0 genome.wustl.edu 37 3 86114833 86114833 + Missense_Mutation SNP C C T TCGA-AB-2990-03A-01D-0739-09 TCGA-AB-2990-11A-01D-0739-09 C C C T C C Verified Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq 1 dbGAP Illumina HiSeq 8b0e6903-5e1e-4f8b-8f17-8c2442507379 7ff43be0-1381-4220-a165-9a9e17909534 3 86197523 86197523 C T SNP CADM2 NM_153184.2 human genbank 54_36p +1 validated missense c.1148 p.T383M 1.000 NULL HMMSmart_4.1m,HMMSmart_IGc2,HMMSmart_IG,HMMPfam_V-set,HMMPfam_ig,HMMPfam_C2-set_2,superfamily_SSF48726 - no_errors 433 35 7.46 428 303 41.45 1 0 0.00 +ZNF462 0 genome.wustl.edu 37 9 109691231 109691231 + Missense_Mutation SNP C C T TCGA-AB-2990-03A-01D-0739-09 TCGA-AB-2990-11A-01D-0739-09 C C C T C C Verified Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq 1 dbGAP Illumina HiSeq 8b0e6903-5e1e-4f8b-8f17-8c2442507379 7ff43be0-1381-4220-a165-9a9e17909534 9 108731052 108731052 C T SNP ZNF462 NM_021224.4 human genbank 54_36p +1 validated missense c.5038 p.R1680C 1.000 PatternScan_ZINC_FINGER_C2H2_1,HMMSmart_SM00355,superfamily_C2H2 and C2HC zinc fingers,superfamily_beta-sandwich domain of Sec23/24 HMMPfam_zf-C2H2,PatternScan_ZINC_FINGER_C2H2_1,HMMSmart_SM00355,superfamily_C2H2 and C2HC zinc fingers,superfamily_beta-sandwich domain of Sec23/24 - no_errors 567 61 9.71 582 367 38.63 NA NA NA +CALB2 0 genome.wustl.edu 37 16 71419500 71419500 + Missense_Mutation SNP C C T TCGA-AB-2990-03A-01D-0739-09 TCGA-AB-2990-11A-01D-0739-09 C C C T C C Verified Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq 1 dbGAP Illumina HiSeq 8b0e6903-5e1e-4f8b-8f17-8c2442507379 7ff43be0-1381-4220-a165-9a9e17909534 16 69977001 69977001 C T SNP CALB2 NM_007088.3 human genbank 54_36p +1 reviewed missense c.554 p.T185M 0.999 NULL HMMSmart_EFh,PatternScan_EF_HAND_1,HMMPfam_efhand,superfamily_SSF47473 - no_errors 1079 108 9.10 909 629 40.82 NA NA NA +ANKRD24 0 genome.wustl.edu 37 19 4186441 4186441 + Nonsense_Mutation SNP C C T TCGA-AB-2990-03A-01D-0739-09 TCGA-AB-2990-11A-01D-0739-09 C C C T C C Verified Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq 1 dbGAP Illumina HiSeq 8b0e6903-5e1e-4f8b-8f17-8c2442507379 7ff43be0-1381-4220-a165-9a9e17909534 19 4137441 4137441 C T SNP ANKRD24 NM_133475.1 human genbank 54_36p +1 provisional nonsense c.19 p.R7* 0.921 NULL HMMPfam_Ank,HMMSmart_SM00248,superfamily_Ankyrin repeat - no_errors 447 58 11.49 364 257 41.38 NA NA NA +LAMA5 0 genome.wustl.edu 37 20 60900434 60900434 + Missense_Mutation SNP C C T TCGA-AB-2990-03A-01D-0739-09 TCGA-AB-2990-11A-01D-0739-09 C C C T C C Verified Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq 1 dbGAP Illumina HiSeq 8b0e6903-5e1e-4f8b-8f17-8c2442507379 7ff43be0-1381-4220-a165-9a9e17909534 20 60333829 60333829 C T SNP LAMA5 NM_005560.3 human genbank 54_36p -1 reviewed missense c.5467 p.A1823T 0.013 HMMPfam_Laminin_B HMMPfam_Laminin_B,PatternScan_TNFR_NGFR_1,HMMSmart_SM00282,HMMPfam_Laminin_EGF,HMMSmart_SM00180,PatternScan_EGF_LAM_1,HMMSmart_SM00181,HMMPfam_Laminin_N,HMMSmart_SM00136,superfamily_Galactose-binding domain-like,superfamily_Concanavalin A-like lectins/glucanases,HMMPfam_Laminin_I,HMMPfam_Laminin_II,HMMPfam_Laminin_G_2,PatternScan_EGF_1,PatternScan_EGF_2,HMMSmart_SM00281,superfamily_EGF/Laminin - no_errors 66 6 8.22 56 41 41.84 4 1 20.00 +NPM1 0 genome.wustl.edu 37 5 170837547 170837548 + Frame_Shift_Ins INS - - TCTG TCGA-AB-2990-03A-01D-0739-09 TCGA-AB-2990-11A-01D-0739-09 - - - TCTG - - Verified Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq 1 dbGAP Illumina HiSeq 8b0e6903-5e1e-4f8b-8f17-8c2442507379 7ff43be0-1381-4220-a165-9a9e17909534 5 170770152 170770153 - TCTG INS NPM1 NM_002520.1 human genbank 54_36p +1 validated frame_shift_ins c.863_864 p.W288fs 1.000:1.000 NULL HMMPfam_Nucleoplasmin,superfamily_Nucleoplasmin-like core domain - no_errors NA NA NA NA NA NA NA NA NA +VCAM1 0 genome.wustl.edu 37 1 101196837 101196837 + Missense_Mutation SNP G G A TCGA-AB-2991-03A-01D-0739-09 TCGA-AB-2991-11A-01D-0739-09 G G G A G G Verified Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq 1 dbGAP Illumina HiSeq 70fdce87-0e0c-489a-84bf-ad4e0206a8e7 4de3b1f0-997c-43ec-b5ea-4b5dc4367c3a 1 100969425 100969425 G A SNP VCAM1 NM_001078.2 human genbank 54_36p +1 reviewed missense c.1288 p.V430M 0.987 HMMPfam_C2-set,superfamily_Immunoglobulin HMMSmart_SM00406,HMMSmart_SM00408,HMMSmart_SM00409,HMMPfam_C2-set,HMMPfam_I-set,HMMPfam_ig,superfamily_Immunoglobulin - no_errors 1112 0 0.00 597 258 30.18 8 0 0.00 +KIDINS220 0 genome.wustl.edu 37 2 8890360 8890360 + Missense_Mutation SNP G G A TCGA-AB-2991-03A-01D-0739-09 TCGA-AB-2991-11A-01D-0739-09 G G G A G G Verified Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq 1 dbGAP Illumina HiSeq 70fdce87-0e0c-489a-84bf-ad4e0206a8e7 4de3b1f0-997c-43ec-b5ea-4b5dc4367c3a 2 8807811 8807811 G A SNP KIDINS220 NM_020738.2 human genbank 54_36p -1 validated missense c.3296 p.P1099L 0.282 NULL HMMPfam_Ank,HMMSmart_SM00248,superfamily_Ankyrin repeat,superfamily_SAM/Pointed domain,HMMPfam_KAP_NTPase - no_errors 608 0 0.00 296 190 39.09 19 17 47.22 +OSTalpha 0 genome.wustl.edu 37 3 195955063 195955063 + Missense_Mutation SNP C C T TCGA-AB-2991-03A-01D-0739-09 TCGA-AB-2991-11A-01D-0739-09 C C C T C C Verified Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq 1 dbGAP Illumina HiSeq 70fdce87-0e0c-489a-84bf-ad4e0206a8e7 4de3b1f0-997c-43ec-b5ea-4b5dc4367c3a 3 197439460 197439460 C T SNP OSTalpha NM_152672.5 human genbank 54_36p +1 validated missense c.440 p.T147M 0.998 NULL NULL - no_errors 882 3 0.34 261 187 41.74 1 1 50.00 +LOC100128340 0 genome.wustl.edu 37 5 177378293 177378293 + Missense_Mutation SNP C C T TCGA-AB-2991-03A-01D-0739-09 TCGA-AB-2991-11A-01D-0739-09 C C C T C C Verified Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq 1 dbGAP Illumina HiSeq 70fdce87-0e0c-489a-84bf-ad4e0206a8e7 4de3b1f0-997c-43ec-b5ea-4b5dc4367c3a 5 177310899 177310899 C T SNP LOC100128340 XM_001721455.1 human genbank 54_36p +1 model missense c.103 p.P35S 0.000 NULL NULL - no_errors 221 0 0.00 100 63 38.65 1 0 0.00 +CCDC136 0 genome.wustl.edu 37 7 128451964 128451964 + Silent SNP G G A TCGA-AB-2991-03A-01D-0739-09 TCGA-AB-2991-11A-01D-0739-09 G G G A G G Verified Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq 1 dbGAP Illumina HiSeq 70fdce87-0e0c-489a-84bf-ad4e0206a8e7 4de3b1f0-997c-43ec-b5ea-4b5dc4367c3a 7 128239200 128239200 G A SNP CCDC136 NM_022742.3 human genbank 54_36p +1 validated silent c.2139 p.R713 0.972 superfamily_Spectrin repeat superfamily_Prefoldin,superfamily_Spectrin repeat - no_errors 1272 0 0.00 409 310 43.06 0 1 100.00 +ARID2 0 genome.wustl.edu 37 12 46254719 46254719 + Nonsense_Mutation SNP C C T TCGA-AB-2991-03A-01D-0739-09 TCGA-AB-2991-11A-01D-0739-09 C C C T C C Verified Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq 1 dbGAP Illumina HiSeq 70fdce87-0e0c-489a-84bf-ad4e0206a8e7 4de3b1f0-997c-43ec-b5ea-4b5dc4367c3a 12 44540986 44540986 C T SNP ARID2 NM_152641.2 human genbank 54_36p +1 validated nonsense c.4909 p.Q1637* 1.000 PatternScan_ZINC_FINGER_C2H2_1 HMMPfam_ARID,HMMSmart_SM00501,superfamily_ARID-like,PatternScan_ZINC_FINGER_C2H2_1,superfamily_"Winged helix" DNA-binding domain - no_errors 767 1 0.13 623 220 26.04 16 3 15.79 +LOC100132232 0 genome.wustl.edu 37 12 119918834 119918834 + Missense_Mutation SNP C C T TCGA-AB-2991-03A-01D-0739-09 TCGA-AB-2991-11A-01D-0739-09 C C C T C C Verified Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq 1 dbGAP Illumina HiSeq 70fdce87-0e0c-489a-84bf-ad4e0206a8e7 4de3b1f0-997c-43ec-b5ea-4b5dc4367c3a 12 118403217 118403217 C T SNP LOC100132232 XM_001716552.1 human genbank 54_36p -1 model missense c.88 p.D30N 0.075 NULL NULL - no_errors 1226 3 0.24 350 219 38.49 NA NA NA +MYCBP2 0 genome.wustl.edu 37 13 77730270 77730270 + Missense_Mutation SNP G G A TCGA-AB-2991-03A-01D-0739-09 TCGA-AB-2991-11A-01D-0739-09 G G G A G G Verified Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq 1 dbGAP Illumina HiSeq 70fdce87-0e0c-489a-84bf-ad4e0206a8e7 4de3b1f0-997c-43ec-b5ea-4b5dc4367c3a 13 76628271 76628271 G A SNP MYCBP2 NM_015057.3 human genbank 54_36p -1 validated missense c.6724 p.R2242C 1.000 superfamily_E set domains HMMPfam_RCC1,PatternScan_RCC1_2,HMMSmart_SM00184,superfamily_Galactose-binding domain-like,superfamily_RCC1/BLIP-II,HMMPfam_PHR,superfamily_E set domains,superfamily_RING/U-box - no_errors 1751 6 0.34 951 306 24.31 27 13 32.50 +MAX 0 genome.wustl.edu 37 14 65544747 65544747 + Missense_Mutation SNP C C T TCGA-AB-2991-03A-01D-0739-09 TCGA-AB-2991-11A-01D-0739-09 C C C T C C Verified Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq 1 dbGAP Illumina HiSeq 70fdce87-0e0c-489a-84bf-ad4e0206a8e7 4de3b1f0-997c-43ec-b5ea-4b5dc4367c3a 14 64614500 64614500 C T SNP MAX NM_002382.3 human genbank 54_36p -1 reviewed missense c.179 p.R60Q 1.000 HMMPfam_HLH,HMMSmart_SM00353,superfamily_HLH helix-loop-helix DNA-binding domain HMMPfam_HLH,HMMSmart_SM00353,superfamily_HLH helix-loop-helix DNA-binding domain - no_errors 536 2 0.37 252 32 11.27 339 79 18.76 +ZNF788 0 genome.wustl.edu 37 19 12223966 12223966 + Missense_Mutation SNP G G A TCGA-AB-2991-03A-01D-0739-09 TCGA-AB-2991-11A-01D-0739-09 G G G A G G Verified Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq 1 dbGAP Illumina HiSeq 70fdce87-0e0c-489a-84bf-ad4e0206a8e7 4de3b1f0-997c-43ec-b5ea-4b5dc4367c3a 19 12084966 12084966 G A SNP ZNF788 ENST00000339302 human ensembl 54_36p +1 known missense c.1604 p.R535H 0.989 superfamily_SSF57667 HMMPfam_zf-C2H2,PatternScan_ZINC_FINGER_C2H2_1,HMMSmart_ZnF_C2H2,superfamily_SSF57667 - no_errors 637 0 0.00 313 113 26.53 3 2 40.00 +CNOT3 0 genome.wustl.edu 37 19 54656934 54656934 + Missense_Mutation SNP C C T TCGA-AB-2991-03A-01D-0739-09 TCGA-AB-2991-11A-01D-0739-09 C C C T C C Verified Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq 1 dbGAP Illumina HiSeq 70fdce87-0e0c-489a-84bf-ad4e0206a8e7 4de3b1f0-997c-43ec-b5ea-4b5dc4367c3a 19 59348746 59348746 C T SNP CNOT3 ENST00000358389 human ensembl 54_36p +1 known missense c.1511 p.T504I 0.000 NULL HMMPfam_Not3 - no_errors 451 2 0.44 162 51 23.94 0 1 100.00 +KRTAP26-1 0 genome.wustl.edu 37 21 31692113 31692113 + Missense_Mutation SNP C C T TCGA-AB-2991-03A-01D-0739-09 TCGA-AB-2991-11A-01D-0739-09 C C C T C C Verified Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq 1 dbGAP Illumina HiSeq 70fdce87-0e0c-489a-84bf-ad4e0206a8e7 4de3b1f0-997c-43ec-b5ea-4b5dc4367c3a 21 30613984 30613984 C T SNP KRTAP26-1 NM_203405.1 human genbank 54_36p -1 validated missense c.241 p.G81S 0.000 HMMPfam_PMG HMMPfam_PMG - no_errors 1542 0 0.00 556 352 38.77 NA NA NA +AMOT 0 genome.wustl.edu 37 X 112058654 112058654 + Missense_Mutation SNP A A T TCGA-AB-2992-03A-01D-0739-09 TCGA-AB-2992-11A-01D-0739-09 A A A T A A Verified Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq 1 dbGAP Illumina HiSeq 4465a0df-868c-46ee-9087-c39f64ffd3ca 844d8005-5ba1-4480-b5b2-939b59f155c7 X 111945310 111945310 A T SNP AMOT NM_133265.1 human genbank 54_36p -1 reviewed missense c.97 p.S33T 0.996 NULL NULL - no_errors 1815 15 0.82 926 477 33.97 1 0 0.00 +IDH1 0 genome.wustl.edu 37 2 209113113 209113113 + Missense_Mutation SNP G G A rs121913499 TCGA-AB-2992-03A-01D-0739-09 TCGA-AB-2992-11A-01D-0739-09 G G G A G G Verified Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq 1 dbGAP Illumina HiSeq 4465a0df-868c-46ee-9087-c39f64ffd3ca 844d8005-5ba1-4480-b5b2-939b59f155c7 2 208821358 208821358 G A SNP IDH1 NM_005896.2 human genbank 54_36p -1 reviewed missense c.394 p.R132C 1.000 HMMPfam_Iso_dh,superfamily_Isocitrate/Isopropylmalate dehydrogenase-like HMMPfam_Iso_dh,PatternScan_IDH_IMDH,superfamily_Isocitrate/Isopropylmalate dehydrogenase-like - no_errors 1083 14 1.28 429 197 31.47 49 56 53.33 +RPL9 0 genome.wustl.edu 37 4 39459259 39459259 + Missense_Mutation SNP T T C TCGA-AB-2992-03A-01D-0739-09 TCGA-AB-2992-11A-01D-0739-09 T T T C T T Verified Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq 1 dbGAP Illumina HiSeq 4465a0df-868c-46ee-9087-c39f64ffd3ca 844d8005-5ba1-4480-b5b2-939b59f155c7 4 39135654 39135654 T C SNP RPL9 NM_000661.4 human genbank 54_36p -1 reviewed missense c.205 p.T69A 1.000 HMMPfam_Ribosomal_L6,superfamily_Ribosomal protein L6 PatternScan_RIBOSOMAL_L6_2,HMMPfam_Ribosomal_L6,superfamily_Ribosomal protein L6 - no_errors 487 17 3.36 205 89 30.27 18 13 41.94 +PARP2 0 genome.wustl.edu 37 14 20818769 20818769 + Nonsense_Mutation SNP A A T TCGA-AB-2992-03A-01D-0739-09 TCGA-AB-2992-11A-01D-0739-09 A A A T A A Verified Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq 1 dbGAP Illumina HiSeq 4465a0df-868c-46ee-9087-c39f64ffd3ca 844d8005-5ba1-4480-b5b2-939b59f155c7 14 19888609 19888609 A T SNP PARP2 NM_005484.1 human genbank 54_36p +1 reviewed nonsense c.448 p.R150* 1.000 HMMPfam_WGR,HMMSmart_SM00773 HMMPfam_PARP_reg,superfamily_Domain of poly(ADP-ribose) polymerase,PatternScan_CPSASE_2,HMMPfam_WGR,HMMSmart_SM00773,HMMPfam_PARP,PatternScan_CASPASE_HIS,superfamily_ADP-ribosylation - no_errors 1825 33 1.78 675 336 33.14 23 1 4.17 +AGBL1 0 genome.wustl.edu 37 15 86790957 86790957 + Silent SNP G G T TCGA-AB-2992-03A-01D-0739-09 TCGA-AB-2992-11A-01D-0739-09 G G G T G G Verified Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq 1 dbGAP Illumina HiSeq 4465a0df-868c-46ee-9087-c39f64ffd3ca 844d8005-5ba1-4480-b5b2-939b59f155c7 15 84591961 84591961 G T SNP AGBL1 NM_152336.2 human genbank 54_36p +1 validated silent c.444 p.L148 0.993 superfamily_ARM repeat HMMPfam_Peptidase_M14,superfamily_ARM repeat,superfamily_Zn-dependent exopeptidases - no_errors 1386 29 2.05 659 287 30.27 NA NA NA +MPND 0 genome.wustl.edu 37 19 4354113 4354113 + Missense_Mutation SNP C C T TCGA-AB-2992-03A-01D-0739-09 TCGA-AB-2992-11A-01D-0739-09 C C C T C C Verified Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq 1 dbGAP Illumina HiSeq 4465a0df-868c-46ee-9087-c39f64ffd3ca 844d8005-5ba1-4480-b5b2-939b59f155c7 19 4305113 4305113 C T SNP MPND NM_032868.3 human genbank 54_36p +1 provisional missense c.736 p.R246C 1.000 NULL HMMPfam_Mov34,superfamily_JAB1/MPN domain - no_errors 1609 35 2.13 157 103 39.62 26 2 7.14 +KLK7 0 genome.wustl.edu 37 19 51480908 51480908 + Nonsense_Mutation SNP G G A TCGA-AB-2992-03A-01D-0739-09 TCGA-AB-2992-11A-01D-0739-09 G G G A G G Verified Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq 1 dbGAP Illumina HiSeq 4465a0df-868c-46ee-9087-c39f64ffd3ca 844d8005-5ba1-4480-b5b2-939b59f155c7 19 56172720 56172720 G A SNP KLK7 NM_005046.2 human genbank 54_36p -1 reviewed nonsense c.646 p.Q216* 0.616 HMMPfam_Trypsin,HMMSmart_SM00020,superfamily_Trypsin-like serine proteases HMMPfam_Trypsin,HMMSmart_SM00020,superfamily_Trypsin-like serine proteases,PatternScan_TRYPSIN_HIS,PatternScan_TRYPSIN_SER - no_errors 224 8 3.45 118 73 38.22 NA NA NA +SLC24A3 0 genome.wustl.edu 37 20 19662539 19662539 + Missense_Mutation SNP A A G TCGA-AB-2992-03A-01D-0739-09 TCGA-AB-2992-11A-01D-0739-09 A A A G A A Verified Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq 1 dbGAP Illumina HiSeq 4465a0df-868c-46ee-9087-c39f64ffd3ca 844d8005-5ba1-4480-b5b2-939b59f155c7 20 19610539 19610539 A G SNP SLC24A3 NM_020689.3 human genbank 54_36p +1 validated missense c.805 p.T269A 0.998 NULL HMMPfam_Na_Ca_ex - no_errors 2254 18 0.79 398 196 33.00 3 1 25.00 +NPM1 0 genome.wustl.edu 37 5 170837547 170837548 + Frame_Shift_Ins INS - - TCTG TCGA-AB-2992-03A-01D-0739-09 TCGA-AB-2992-11A-01D-0739-09 - - - TCTG - - Verified Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq 1 dbGAP Illumina HiSeq 4465a0df-868c-46ee-9087-c39f64ffd3ca 844d8005-5ba1-4480-b5b2-939b59f155c7 5 170770152 170770153 - TCTG INS NPM1 NM_002520.1 human genbank 54_36p +1 validated frame_shift_ins c.863_864 p.W288fs 1.000:1.000 NULL HMMPfam_Nucleoplasmin,superfamily_Nucleoplasmin-like core domain - no_errors NA NA NA NA NA NA NA NA NA +TTN 0 genome.wustl.edu 37 2 179476545 179476545 + Missense_Mutation SNP C C T TCGA-AB-2993-03A-01D-0739-09 TCGA-AB-2993-11A-01D-0739-09 C C C T C C Verified Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq 1 dbGAP Illumina HiSeq 4e956c79-d82b-4d89-9d05-7133e0caf740 c537a524-b89a-4738-8bbe-b00f335d4a75 2 179184790 179184790 C T SNP TTN ENST00000375038 human ensembl 54_36p -1 known missense c.38437 p.E12813K 1.000 HMMPfam_fn3,HMMSmart_SM00060,superfamily_Fibronectin type III,superfamily_Concanavalin A-like lectins/glucanases,superfamily_WD40 repeat-like,superfamily_vWA-like,superfamily_Positive stranded ssRNA viruses HMMSmart_SM00219,HMMSmart_SM00220,PatternScan_IG_MHC,HMMSmart_SM00406,HMMSmart_SM00408,HMMSmart_SM00409,HMMPfam_fn3,HMMSmart_SM00060,HMMPfam_PPAK,PatternScan_PROTEIN_KINASE_TYR,superfamily_Fibronectin type III,superfamily_Concanavalin A-like lectins/glucanases,superfamily_Protein kinase-like (PK-like),superfamily_WD40 repeat-like,HMMPfam_I-set,HMMPfam_ig,HMMPfam_Titin_Z,HMMPfam_Pkinase,PatternScan_FGGY_KINASES_1,PatternScan_PEROXIDASE_1,superfamily_Immunoglobulin,superfamily_vWA-like,superfamily_Positive stranded ssRNA viruses - no_errors 10721 2174 15.75 8955 7039 43.5733333333333 49 52 51.49 +LOC339970 0 genome.wustl.edu 37 4 68904788 68904788 + RNA SNP G G A TCGA-AB-2993-03A-01D-0739-09 TCGA-AB-2993-11A-01D-0739-09 G G G A G G Verified Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq 1 dbGAP Illumina HiSeq 4e956c79-d82b-4d89-9d05-7133e0caf740 c537a524-b89a-4738-8bbe-b00f335d4a75 4 68587383 68587383 G A SNP LOC339970 XR_038239.1 human genbank 54_36p +1 model rna NULL NULL 0.001 - - - pseudogene 11376 1773 13.1466666666667 9969 9083 46.5666666666667 0 1 100.00 +CDHR2 0 genome.wustl.edu 37 5 176016333 176016333 + Missense_Mutation SNP C C T TCGA-AB-2993-03A-01D-0739-09 TCGA-AB-2993-11A-01D-0739-09 C C C T C C Verified Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq 1 dbGAP Illumina HiSeq 4e956c79-d82b-4d89-9d05-7133e0caf740 c537a524-b89a-4738-8bbe-b00f335d4a75 5 175948939 175948939 C T SNP PCDH24 NM_017675.3 human genbank 54_36p +1 reviewed missense c.3011 p.P1004L 0.982 HMMPfam_Cadherin,HMMSmart_CA,superfamily_Cadherin HMMPfam_Cadherin,HMMSmart_CA,PatternScan_CADHERIN_1,superfamily_Cadherin - no_errors 8521 794 8.65666666666667 5120 5094 47.8133333333333 NA NA NA +CALHM3 0 genome.wustl.edu 37 10 105238745 105238745 + Silent SNP C C T TCGA-AB-2993-03A-01D-0739-09 TCGA-AB-2993-11A-01D-0739-09 C C C T C C Verified Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq 1 dbGAP Illumina HiSeq 4e956c79-d82b-4d89-9d05-7133e0caf740 c537a524-b89a-4738-8bbe-b00f335d4a75 10 105228735 105228735 C T SNP CALHM3 ENST00000369783 human ensembl 54_36p -1 known silent c.45 p.S15 0.104 NULL NULL - no_errors 11285 3078 20.5166666666667 9204 7466 44.19 NA NA NA +SMC3 0 genome.wustl.edu 37 10 112356176 112356176 + Missense_Mutation SNP G G T TCGA-AB-2993-03A-01D-0739-09 TCGA-AB-2993-11A-01D-0739-09 G G G T G G Verified Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq 1 dbGAP Illumina HiSeq 4e956c79-d82b-4d89-9d05-7133e0caf740 c537a524-b89a-4738-8bbe-b00f335d4a75 10 112346166 112346166 G T SNP SMC3 NM_005445.3 human genbank 54_36p +1 reviewed missense c.1984 p.G662C 1.000 HMMPfam_SMC_N,superfamily_Smc hinge domain,superfamily_P-loop containing nucleoside triphosphate hydrolases HMMPfam_SMC_N,HMMPfam_SMC_hinge,superfamily_Smc hinge domain,PatternScan_ABC_TRANSPORTER_1,superfamily_P-loop containing nucleoside triphosphate hydrolases,superfamily_BAG domain - no_errors 8761 2734 21.7966666666667 9082 7834 50.2833333333333 38 44 53.66 +GPR123 0 genome.wustl.edu 37 10 134884545 134884545 + Missense_Mutation SNP C C T rs181856403 TCGA-AB-2993-03A-01D-0739-09 TCGA-AB-2993-11A-01D-0739-09 C C C T C C Verified Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq 1 dbGAP Illumina HiSeq 4e956c79-d82b-4d89-9d05-7133e0caf740 c537a524-b89a-4738-8bbe-b00f335d4a75 10 134734535 134734535 C T SNP GPR123 ENST00000368577 human ensembl 54_36p +1 known missense c.113 p.T38I 0.000 NULL HMMPfam_7tm_2,PatternScan_G_PROTEIN_RECEP_F2_2 - no_errors 8148 2276 20.1333333333333 6337 7481 49.96 NA NA NA +RPLP0P2 0 genome.wustl.edu 37 11 61396344 61396344 + RNA SNP C C T TCGA-AB-2993-03A-01D-0739-09 TCGA-AB-2993-11A-01D-0739-09 C C C T C C Verified Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq 1 dbGAP Illumina HiSeq 4e956c79-d82b-4d89-9d05-7133e0caf740 c537a524-b89a-4738-8bbe-b00f335d4a75 11 61152920 61152920 C T SNP RPLP0P2 NR_002775.2 human genbank 54_36p +1 inferred rna NULL NULL 0.000 - - - pseudogene 15911 1847 11.01 10880 7475 39.0366666666667 NA NA NA +SLC15A1 0 genome.wustl.edu 37 13 99378392 99378392 + Nonsense_Mutation SNP C C T TCGA-AB-2993-03A-01D-0739-09 TCGA-AB-2993-11A-01D-0739-09 C C C T C C Verified Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq 1 dbGAP Illumina HiSeq 4e956c79-d82b-4d89-9d05-7133e0caf740 c537a524-b89a-4738-8bbe-b00f335d4a75 13 98176393 98176393 C T SNP SLC15A1 NM_005073.3 human genbank 54_36p -1 validated nonsense c.230 p.W77* 1.000 superfamily_MFS general substrate transporter,PatternScan_PTR2_1 HMMPfam_PTR2,superfamily_MFS general substrate transporter,PatternScan_PTR2_1,PatternScan_PTR2_2 - no_errors 9390 1998 15.6766666666667 8439 9910 51.5 NA NA NA +GPR183 0 genome.wustl.edu 37 13 99947387 99947387 + Missense_Mutation SNP G G A TCGA-AB-2993-03A-01D-0739-09 TCGA-AB-2993-11A-01D-0739-09 G G G A G G Verified Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq 1 dbGAP Illumina HiSeq 4e956c79-d82b-4d89-9d05-7133e0caf740 c537a524-b89a-4738-8bbe-b00f335d4a75 13 98745388 98745388 G A SNP GPR183 NM_004951.4 human genbank 54_36p -1 reviewed missense c.1013 p.A338V 1.000 superfamily_SSF81321 HMMPfam_7tm_1,PatternScan_G_PROTEIN_RECEP_F1_1,superfamily_SSF81321 - no_errors 7168 1857 20.4166666666667 4671 3872 47.1566666666667 27 45 62.50 +CDH24 0 genome.wustl.edu 37 14 23518426 23518426 + Nonsense_Mutation SNP G G T TCGA-AB-2993-03A-01D-0739-09 TCGA-AB-2993-11A-01D-0739-09 G G G T G G Verified Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq 1 dbGAP Illumina HiSeq 4e956c79-d82b-4d89-9d05-7133e0caf740 c537a524-b89a-4738-8bbe-b00f335d4a75 14 22588266 22588266 G T SNP CDH24 NM_022478.3 human genbank 54_36p -1 validated nonsense c.1770 p.Y590* 0.998 HMMPfam_Cadherin,superfamily_Cadherin-like HMMPfam_Cadherin_C,HMMPfam_Cadherin,HMMSmart_SM00112,PatternScan_CADHERIN_1,superfamily_Cadherin-like - no_errors 4577 1166 15.62 4405 5022 46.8733333333333 3 2 40.00 +PDXDC1 0 genome.wustl.edu 37 16 15122791 15122791 + Missense_Mutation SNP G G A TCGA-AB-2993-03A-01D-0739-09 TCGA-AB-2993-11A-01D-0739-09 G G G A G G Verified Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq 1 dbGAP Illumina HiSeq 4e956c79-d82b-4d89-9d05-7133e0caf740 c537a524-b89a-4738-8bbe-b00f335d4a75 16 15030292 15030292 G A SNP PDXDC1 NM_015027.2 human genbank 54_36p +1 validated missense c.1261 p.E421K 0.936 superfamily_PLP-dependent transferases HMMPfam_Pyridoxal_deC,superfamily_PLP-dependent transferases - no_errors 8684 778 8.48 12623 4597 28.0866666666667 44 16 26.23 +LOC728896 0 genome.wustl.edu 37 17 45713886 45713886 + Missense_Mutation SNP G G T TCGA-AB-2993-03A-01D-0739-09 TCGA-AB-2993-11A-01D-0739-09 G G G T G G Verified Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq 1 dbGAP Illumina HiSeq 4e956c79-d82b-4d89-9d05-7133e0caf740 c537a524-b89a-4738-8bbe-b00f335d4a75 17 43068885 43068885 G T SNP LOC728896 XM_001719193.1 human genbank 54_36p -1 model missense c.138 p.F46L 0.078 NULL NULL - no_errors 10094 1803 15.19 9861 7311 45.1966666666667 2 0 0.00 +PTPRT 0 genome.wustl.edu 37 20 40730840 40730840 + Missense_Mutation SNP G G A TCGA-AB-2993-03A-01D-0739-09 TCGA-AB-2993-11A-01D-0739-09 G G G A G G Verified Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq 1 dbGAP Illumina HiSeq 4e956c79-d82b-4d89-9d05-7133e0caf740 c537a524-b89a-4738-8bbe-b00f335d4a75 20 40164254 40164254 G A SNP PTPRT NM_133170.5 human genbank 54_36p -1 reviewed missense c.3695 p.P1232L 1.000 HMMPfam_Y_phosphatase,HMMSmart_SM00194,superfamily_(Phosphotyrosine protein) phosphatases II HMMPfam_Y_phosphatase,HMMSmart_SM00194,HMMPfam_MAM,HMMSmart_SM00137,PatternScan_MAM_1,HMMSmart_SM00404,HMMPfam_fn3,HMMSmart_SM00060,superfamily_Fibronectin type III,PatternScan_TYR_PHOSPHATASE_1,superfamily_Immunoglobulin,superfamily_(Phosphotyrosine protein) phosphatases II - no_errors 7222 1981 20.2533333333333 6478 5396 45.2433333333333 NA NA NA +DSCAM 0 genome.wustl.edu 37 21 41414445 41414445 + Silent SNP A A G TCGA-AB-2993-03A-01D-0739-09 TCGA-AB-2993-11A-01D-0739-09 A A A G A A Verified Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq 1 dbGAP Illumina HiSeq 4e956c79-d82b-4d89-9d05-7133e0caf740 c537a524-b89a-4738-8bbe-b00f335d4a75 21 40336315 40336315 A G SNP DSCAM NM_001389.3 human genbank 54_36p -1 validated silent c.5539 p.L1847 1.000 NULL HMMSmart_SM00406,HMMSmart_SM00408,HMMSmart_SM00409,HMMPfam_fn3,HMMSmart_SM00060,superfamily_Fibronectin type III,HMMPfam_I-set,HMMPfam_ig,superfamily_Immunoglobulin - no_errors 8549 1538 14.9733333333333 7622 7923 50.64 NA NA NA +DNMT3A 0 genome.wustl.edu 37 2 25463514 25463514 + Frame_Shift_Del DEL A A - TCGA-AB-2993-03A-01D-0739-09 TCGA-AB-2993-11A-01D-0739-09 A A A - A A Verified Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq 1 dbGAP Illumina HiSeq 4e956c79-d82b-4d89-9d05-7133e0caf740 c537a524-b89a-4738-8bbe-b00f335d4a75 2 25317018 25317018 A - DEL DNMT3A NM_022552.3 human genbank 54_36p -1 reviewed frame_shift_del c.2168 p.L723fs 0.999 HMMPfam_DNA_methylase,superfamily_S-adenosyl-L-methionine-dependent methyltransferases HMMPfam_PWWP,HMMSmart_SM00293,HMMPfam_DNA_methylase,superfamily_FYVE/PHD zinc finger,PatternScan_C5_MTASE_1,superfamily_S-adenosyl-L-methionine-dependent methyltransferases,superfamily_Tudor/PWWP/MBT - no_errors 1146 187 13.80 400 360 45.28 25 0 0.00 +NPM1 0 genome.wustl.edu 37 5 170837547 170837548 + Frame_Shift_Ins INS - - CATG TCGA-AB-2993-03A-01D-0739-09 TCGA-AB-2993-11A-01D-0739-09 - - - CATG - - Verified Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq 1 dbGAP Illumina HiSeq 4e956c79-d82b-4d89-9d05-7133e0caf740 c537a524-b89a-4738-8bbe-b00f335d4a75 5 170770152 170770153 - CATG INS NPM1 NM_002520.1 human genbank 54_36p +1 validated frame_shift_ins c.863_864 p.W288fs 1.000:1.000 NULL HMMPfam_Nucleoplasmin,superfamily_Nucleoplasmin-like core domain - no_errors NA NA NA NA NA NA NA NA NA +FLT3 0 genome.wustl.edu 37 13 28608273 28608274 + In_Frame_Ins INS - - GAAATCAACGTAGAAGTACTCATTATCTGA TCGA-AB-2993-03A-01D-0739-09 TCGA-AB-2993-11A-01D-0739-09 - - - GAAATCAACGTAGAAGTACTCATTATCTGA - - Verified Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq 1 dbGAP Illumina HiSeq 4e956c79-d82b-4d89-9d05-7133e0caf740 c537a524-b89a-4738-8bbe-b00f335d4a75 13 27506273 27506274 - GAAATCAACGTAGAAGTACTCATTATCTGA INS FLT3 NM_004119.2 human genbank 54_36p -1 reviewed in_frame_ins c.1783_1782 p.594in_frame_insSDNEYFYVDF 1.000:1.000 superfamily_Kinase_like HMMPfam_Pkinase_Tyr,HMMSmart_TyrKc,PatternScan_RECEPTOR_TYR_KIN_III,PatternScan_PROTEIN_KINASE_TYR,superfamily_Kinase_like,HMMPfam_ig,PatternScan_PROTEIN_KINASE_ATP,superfamily_SSF48726 - no_errors NA NA NA NA NA NA NA NA NA +BTBD8 0 genome.wustl.edu 37 1 92612781 92612781 + Silent SNP T T A TCGA-AB-2994-03A-01D-0739-09 TCGA-AB-2994-11A-01D-0739-09 T T T A T T Verified Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq 1 dbGAP Illumina HiSeq 679dce85-9fdc-4864-876b-189e068c0e2e b4be30b8-0ab5-4acc-8259-2aef68c178be 1 92385369 92385369 T A SNP BTBD8 NM_183242.3 human genbank 54_36p +1 validated silent c.975 p.I325 1.000 NULL HMMSmart_SM00225,superfamily_POZ domain,HMMPfam_BTB - no_errors 608 9 1.46 895 505 36.07 2 1 33.33 +ZC3H8 0 genome.wustl.edu 37 2 112994154 112994154 + Silent SNP G G A TCGA-AB-2994-03A-01D-0739-09 TCGA-AB-2994-11A-01D-0739-09 G G G A G G Verified Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq 1 dbGAP Illumina HiSeq 679dce85-9fdc-4864-876b-189e068c0e2e b4be30b8-0ab5-4acc-8259-2aef68c178be 2 112710625 112710625 G A SNP ZC3H8 NM_032494.2 human genbank 54_36p -1 validated silent c.489 p.S163 0.000 NULL HMMPfam_zf-CCCH,HMMSmart_ZnF_C3H1 - no_errors 1187 34 2.78 1246 642 33.99 5 6 54.55 +ODZ2 0 genome.wustl.edu 37 5 167689115 167689115 + Missense_Mutation SNP G G T TCGA-AB-2994-03A-01D-0739-09 TCGA-AB-2994-11A-01D-0739-09 G G G T G G Verified Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq 1 dbGAP Illumina HiSeq 679dce85-9fdc-4864-876b-189e068c0e2e b4be30b8-0ab5-4acc-8259-2aef68c178be 5 167621693 167621693 G T SNP ODZ2 ENST00000388903 human ensembl 54_36p +1 known missense c.7622 p.G2541V 1.000 NULL HMMPfam_NHL,HMMPfam_EGF,HMMSmart_SM00181,HMMPfam_RHS_repeat,superfamily_Carboxypeptidase regulatory domain,superfamily_Concanavalin A-like lectins/glucanases,HMMPfam_Ten_N,PatternScan_EGF_1,PatternScan_EGF_2,HMMPfam_EGF_2,superfamily_NHL repeat,superfamily_EGF/Laminin - no_errors 1844 54 2.84 969 553 36.29 NA NA NA +MLIP 0 genome.wustl.edu 37 6 53989598 53989598 + Missense_Mutation SNP G G A TCGA-AB-2994-03A-01D-0739-09 TCGA-AB-2994-11A-01D-0739-09 G G G A G G Verified Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq 1 dbGAP Illumina HiSeq 679dce85-9fdc-4864-876b-189e068c0e2e b4be30b8-0ab5-4acc-8259-2aef68c178be 6 54097557 54097557 G A SNP C6orf142 NM_138569.2 human genbank 54_36p +1 validated missense c.547 p.D183N 0.239 NULL NULL - no_errors 1236 13 1.04 1051 553 34.48 NA NA NA +ARHGAP39 0 genome.wustl.edu 37 8 145772894 145772894 + Missense_Mutation SNP G G C TCGA-AB-2994-03A-01D-0739-09 TCGA-AB-2994-11A-01D-0739-09 G G G C G G Verified Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq 1 dbGAP Illumina HiSeq 679dce85-9fdc-4864-876b-189e068c0e2e b4be30b8-0ab5-4acc-8259-2aef68c178be 8 145743702 145743702 G C SNP KIAA1688 NM_025251.1 human genbank 54_36p -1 validated missense c.1576 p.Q526E 0.411 NULL HMMPfam_RhoGAP,HMMSmart_SM00324,HMMPfam_MyTH4,HMMSmart_SM00139,HMMPfam_WW,HMMSmart_SM00456,superfamily_WW domain,superfamily_GTPase activation domain GAP - no_errors 176 4 2.22 149 59 28.37 NA NA NA +ZNF34 0 genome.wustl.edu 37 8 146003442 146003442 + Silent SNP G G A TCGA-AB-2994-03A-01D-0739-09 TCGA-AB-2994-11A-01D-0739-09 G G G A G G Verified Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq 1 dbGAP Illumina HiSeq 679dce85-9fdc-4864-876b-189e068c0e2e b4be30b8-0ab5-4acc-8259-2aef68c178be 8 145974246 145974246 G A SNP ZNF34 NM_030580.3 human genbank 54_36p -1 validated silent c.204 p.Y68 0.090 HMMPfam_KRAB,HMMSmart_SM00349,superfamily_KRAB domain (Kruppel-associated box Pfam 01352) HMMPfam_KRAB,HMMSmart_SM00349,superfamily_KRAB domain (Kruppel-associated box Pfam 01352),HMMPfam_zf-C2H2,PatternScan_ZINC_FINGER_C2H2_1,HMMSmart_SM00355,superfamily_C2H2 and C2HC zinc fingers - no_errors 777 18 2.26 565 320 36.16 3 3 50.00 +PNPLA7 0 genome.wustl.edu 37 9 140358840 140358840 + Silent SNP G G A TCGA-AB-2994-03A-01D-0739-09 TCGA-AB-2994-11A-01D-0739-09 G G G A G G Verified Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq 1 dbGAP Illumina HiSeq 679dce85-9fdc-4864-876b-189e068c0e2e b4be30b8-0ab5-4acc-8259-2aef68c178be 9 139478661 139478661 G A SNP PNPLA7 NM_001098537.1 human genbank 54_36p -1 validated silent c.3108 p.A1036 0.336 HMMPfam_Patatin,superfamily_FabD/lysophospholipase-like HMMPfam_cNMP_binding,HMMSmart_SM00100,HMMPfam_Patatin,superfamily_FabD/lysophospholipase-like,superfamily_cAMP-binding domain-like - no_errors 316 3 0.94 139 82 36.94 8 4 33.33 +SOX5 0 genome.wustl.edu 37 12 23689406 23689406 + Missense_Mutation SNP G G A TCGA-AB-2994-03A-01D-0739-09 TCGA-AB-2994-11A-01D-0739-09 G G G A G G Verified Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq 1 dbGAP Illumina HiSeq 679dce85-9fdc-4864-876b-189e068c0e2e b4be30b8-0ab5-4acc-8259-2aef68c178be 12 23580673 23580673 G A SNP SOX5 NM_006940.4 human genbank 54_36p -1 reviewed missense c.1969 p.R657W 1.000 NULL HMMPfam_HMG_box,HMMSmart_SM00398,superfamily_HMG-box,PatternScan_TONB_DEPENDENT_REC_1 - no_errors 781 26 3.22 1133 368 24.52 NA NA NA +SCARB1 0 genome.wustl.edu 37 12 125302136 125302136 + Missense_Mutation SNP C C T TCGA-AB-2994-03A-01D-0739-09 TCGA-AB-2994-11A-01D-0739-09 C C C T C C Verified Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq 1 dbGAP Illumina HiSeq 679dce85-9fdc-4864-876b-189e068c0e2e b4be30b8-0ab5-4acc-8259-2aef68c178be 12 123868089 123868089 C T SNP SCARB1 NM_005505.1 human genbank 54_36p -1 validated missense c.244 p.E82K 0.995 HMMPfam_CD36 HMMPfam_CD36 - no_errors 1377 11 0.79 703 379 35.00 14 3 17.65 +NUBP2 0 genome.wustl.edu 37 16 1836557 1836557 + Silent SNP C C T TCGA-AB-2994-03A-01D-0739-09 TCGA-AB-2994-11A-01D-0739-09 C C C T C C Verified Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq 1 dbGAP Illumina HiSeq 679dce85-9fdc-4864-876b-189e068c0e2e b4be30b8-0ab5-4acc-8259-2aef68c178be 16 1776558 1776558 C T SNP NUBP2 NM_012225.2 human genbank 54_36p +1 validated silent c.36 p.G12 0.837 superfamily_SSF52540 PatternScan_MRP,HMMPfam_ParA,superfamily_SSF52540 - no_errors 205 5 2.38 127 88 40.93 13 11 45.83 +LOC100128371 0 genome.wustl.edu 37 16 31506945 31506945 + Missense_Mutation SNP T T C TCGA-AB-2994-03A-01D-0739-09 TCGA-AB-2994-11A-01D-0739-09 T T T C T T Verified Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq 1 dbGAP Illumina HiSeq 679dce85-9fdc-4864-876b-189e068c0e2e b4be30b8-0ab5-4acc-8259-2aef68c178be 16 31414446 31414446 T C SNP LOC100128371 XM_001725757.1 human genbank 54_36p -1 model missense c.250 p.T84A 0.004 NULL NULL - no_errors 1471 22 1.47 620 347 35.85 0 1 100.00 +HYDIN 0 genome.wustl.edu 37 16 70977790 70977790 + Silent SNP G G A TCGA-AB-2994-03A-01D-0739-09 TCGA-AB-2994-11A-01D-0739-09 G G G A G G Verified Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq 1 dbGAP Illumina HiSeq 679dce85-9fdc-4864-876b-189e068c0e2e b4be30b8-0ab5-4acc-8259-2aef68c178be 16 69535291 69535291 G A SNP HYDIN NM_032821.2 human genbank 54_36p -1 validated silent c.6591 p.V2197 0.016 superfamily_P-loop containing nucleoside triphosphate hydrolases superfamily_PapD-like,superfamily_P-loop containing nucleoside triphosphate hydrolases - no_errors 948 11 1.14 1795 493 21.53 NA NA NA +FLT3 0 genome.wustl.edu 37 13 28608255 28608256 + In_Frame_Ins INS - - ATCATATTCATATTCTCTGAA TCGA-AB-2994-03A-01D-0739-09 TCGA-AB-2994-11A-01D-0739-09 - - - ATCATATTCATATTCTCTGAA - - Verified Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq 1 dbGAP Illumina HiSeq 679dce85-9fdc-4864-876b-189e068c0e2e b4be30b8-0ab5-4acc-8259-2aef68c178be 13 27506255 27506256 - ATCATATTCATATTCTCTGAA INS FLT3 NM_004119.2 human genbank 54_36p -1 reviewed in_frame_ins c.1801_1800 p.600in_frame_insFREYEYD 1.000:0.998 superfamily_Kinase_like HMMPfam_Pkinase_Tyr,HMMSmart_TyrKc,PatternScan_RECEPTOR_TYR_KIN_III,PatternScan_PROTEIN_KINASE_TYR,superfamily_Kinase_like,HMMPfam_ig,PatternScan_PROTEIN_KINASE_ATP,superfamily_SSF48726 - no_errors NA NA NA NA NA NA NA NA NA +GSTM3 0 genome.wustl.edu 37 1 110280813 110280813 + Missense_Mutation SNP C C A TCGA-AB-2995-03A-01D-0739-09 TCGA-AB-2995-11A-01D-0739-09 C C C A C C Verified Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq 1 dbGAP Illumina HiSeq 10a026ec-f343-4b63-b67e-59938e0cffac ce73c6c8-40ab-4a3c-acd6-c22444da3567 1 110082336 110082336 C A SNP GSTM3 NM_000849.4 human genbank 54_36p -1 reviewed missense c.272 p.C91F 1.000 superfamily_Glutathione S-transferase (GST) C-terminal domain HMMPfam_GST_N,HMMPfam_GST_C,superfamily_Glutathione S-transferase (GST) C-terminal domain,superfamily_Thioredoxin-like - no_errors 324 0 0.00 917 207 18.40 16 26 61.90 +DDX41 0 genome.wustl.edu 37 5 176939370 176939370 + Missense_Mutation SNP C C T TCGA-AB-2995-03A-01D-0739-09 TCGA-AB-2995-11A-01D-0739-09 C C C T C C Verified Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq 1 dbGAP Illumina HiSeq 10a026ec-f343-4b63-b67e-59938e0cffac ce73c6c8-40ab-4a3c-acd6-c22444da3567 5 176871976 176871976 C T SNP DDX41 NM_016222.2 human genbank 54_36p -1 reviewed missense c.1574 p.R525H 1.000 HMMPfam_Helicase_C,HMMSmart_SM00490,superfamily_P-loop containing nucleoside triphosphate hydrolases HMMPfam_Helicase_C,HMMSmart_SM00490,HMMPfam_zf-CCHC,HMMPfam_DEAD,HMMSmart_SM00487,superfamily_P-loop containing nucleoside triphosphate hydrolases - no_errors 94 0 0.00 222 61 21.48 77 48 38.40 +ZNF37A 0 genome.wustl.edu 37 10 38406446 38406446 + Missense_Mutation SNP A A G TCGA-AB-2995-03A-01D-0739-09 TCGA-AB-2995-11A-01D-0739-09 A A A G A A Verified Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq 1 dbGAP Illumina HiSeq 10a026ec-f343-4b63-b67e-59938e0cffac ce73c6c8-40ab-4a3c-acd6-c22444da3567 10 38446452 38446452 A G SNP ZNF37A NM_001007094.1 human genbank 54_36p +1 validated missense c.367 p.N123D 0.808 NULL HMMPfam_KRAB,HMMSmart_SM00349,superfamily_KRAB domain (Kruppel-associated box Pfam 01352),HMMPfam_zf-C2H2,PatternScan_ZINC_FINGER_C2H2_1,HMMSmart_SM00355,superfamily_C2H2 and C2HC zinc fingers - no_errors 135 0 0.00 536 156 22.48 8 8 50.00 +KCNH5 0 genome.wustl.edu 37 14 63447847 63447847 + Missense_Mutation SNP C C T TCGA-AB-2995-03A-01D-0739-09 TCGA-AB-2995-11A-01D-0739-09 C C C T C C Verified Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq 1 dbGAP Illumina HiSeq 10a026ec-f343-4b63-b67e-59938e0cffac ce73c6c8-40ab-4a3c-acd6-c22444da3567 14 62517600 62517600 C T SNP KCNH5 NM_139318.3 human genbank 54_36p -1 reviewed missense c.685 p.A229T 1.000 superfamily_Voltage-gated potassium channels HMMPfam_cNMP_binding,HMMSmart_SM00100,HMMSmart_SM00086,HMMPfam_Ion_trans,HMMPfam_PAS,superfamily_cAMP-binding domain-like,superfamily_PYP-like sensor domain (PAS domain),superfamily_Voltage-gated potassium channels - no_errors 217 0 0.00 1499 443 22.66 NA NA NA +DNAH9 0 genome.wustl.edu 37 17 11572785 11572785 + Silent SNP C C T TCGA-AB-2995-03A-01D-0739-09 TCGA-AB-2995-11A-01D-0739-09 C C C T C C Verified Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq 1 dbGAP Illumina HiSeq 10a026ec-f343-4b63-b67e-59938e0cffac ce73c6c8-40ab-4a3c-acd6-c22444da3567 17 11513510 11513510 C T SNP DNAH9 NM_001372.3 human genbank 54_36p +1 reviewed silent c.3027 p.T1009 0.907 NULL HMMSmart_SM00382,HMMPfam_Dynein_heavy,PatternScan_CPSASE_2,HMMPfam_AAA_5,HMMPfam_DHC_N1,HMMPfam_DHC_N2,superfamily_Spectrin repeat,superfamily_P-loop containing nucleoside triphosphate hydrolases - no_errors 314 0 0.00 1210 325 21.10 NA NA NA +MYLK2 0 genome.wustl.edu 37 20 30418877 30418877 + Missense_Mutation SNP G G T TCGA-AB-2995-03A-01D-0739-09 TCGA-AB-2995-11A-01D-0739-09 G G G T G G Verified Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq 1 dbGAP Illumina HiSeq 10a026ec-f343-4b63-b67e-59938e0cffac ce73c6c8-40ab-4a3c-acd6-c22444da3567 20 29882538 29882538 G T SNP MYLK2 NM_033118.3 human genbank 54_36p +1 reviewed missense c.1357 p.V453L 1.000 HMMSmart_S_TKc,superfamily_Kinase_like,HMMPfam_Pkinase HMMSmart_S_TKc,PatternScan_PROTEIN_KINASE_ST,superfamily_Kinase_like,PatternScan_PROTEIN_KINASE_ATP,HMMPfam_Pkinase - no_errors 226 0 0.00 511 107 17.29 NA NA NA +LOC646513 0 genome.wustl.edu 37 22 30831774 30831774 + Silent SNP C C T TCGA-AB-2995-03A-01D-0739-09 TCGA-AB-2995-11A-01D-0739-09 C C C T C C Verified Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq 1 dbGAP Illumina HiSeq 10a026ec-f343-4b63-b67e-59938e0cffac ce73c6c8-40ab-4a3c-acd6-c22444da3567 22 29161774 29161774 C T SNP LOC646513 XM_001132717.1 human genbank 54_36p +1 model silent c.144 p.L48 0.056 NULL NULL - no_errors 545 0 0.00 722 148 16.99 1 2 66.67 +IGSF21 0 genome.wustl.edu 37 1 18661497 18661497 + Silent SNP C C T TCGA-AB-2996-03A-01D-0739-09 TCGA-AB-2996-11A-01D-0739-09 C C C T C C Verified Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq 1 dbGAP Illumina HiSeq 625950a0-f786-4158-90b7-89cb96e4a23b 2b2ba0f5-7ab3-4ae0-9828-097cc0e89a15 1 18534084 18534084 C T SNP IGSF21 NM_032880.2 human genbank 54_36p +1 provisional silent c.417 p.N139 0.998 HMMSmart_IG,HMMPfam_V-set,superfamily_SSF48726 HMMSmart_IG,HMMPfam_V-set,superfamily_SSF48726 - no_errors 486 9 1.82 315 252 44.37 1 0 0.00 +MPL 0 genome.wustl.edu 37 1 43818405 43818405 + Missense_Mutation SNP C C G TCGA-AB-2996-03A-01D-0739-09 TCGA-AB-2996-11A-01D-0739-09 C C C G C C Verified Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq 1 dbGAP Illumina HiSeq 625950a0-f786-4158-90b7-89cb96e4a23b 2b2ba0f5-7ab3-4ae0-9828-097cc0e89a15 1 43590992 43590992 C G SNP MPL NM_005373.2 human genbank 54_36p +1 reviewed missense c.1870 p.H624D 0.996 NULL PatternScan_HEMATOPO_REC_L_F1,HMMPfam_fn3,HMMSmart_SM00060,superfamily_Fibronectin type III,HMMPfam_EpoR_lig-bind - no_errors 342 8 2.29 148 145 49.49 42 40 48.19 +LCE1B 0 genome.wustl.edu 37 1 152785067 152785067 + Nonsense_Mutation SNP G G T TCGA-AB-2996-03A-01D-0739-09 TCGA-AB-2996-11A-01D-0739-09 G G G T G G Verified Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq 1 dbGAP Illumina HiSeq 625950a0-f786-4158-90b7-89cb96e4a23b 2b2ba0f5-7ab3-4ae0-9828-097cc0e89a15 1 151051691 151051691 G T SNP LCE1B NM_178349.1 human genbank 54_36p +1 validated nonsense c.145 p.G49* 0.991 NULL NULL - no_errors 70 2 2.78 91 67 41.88 NA NA NA +LAMC1 0 genome.wustl.edu 37 1 183085911 183085911 + Silent SNP T T C TCGA-AB-2996-03A-01D-0739-09 TCGA-AB-2996-11A-01D-0739-09 T T T C T T Verified Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq 1 dbGAP Illumina HiSeq 625950a0-f786-4158-90b7-89cb96e4a23b 2b2ba0f5-7ab3-4ae0-9828-097cc0e89a15 1 181352534 181352534 T C SNP LAMC1 NM_002293.3 human genbank 54_36p +1 reviewed silent c.1437 p.P479 1.000 HMMPfam_Laminin_EGF,HMMSmart_EGF_Lam,PatternScan_EGF_LAM_1,superfamily_Grow_fac_recept,superfamily_SSF57196 HMMPfam_Laminin_B,HMMPfam_Laminin_EGF,HMMSmart_EGF_Lam,PatternScan_EGF_LAM_1,HMMPfam_Laminin_N,HMMSmart_LamNT,superfamily_Grow_fac_recept,PatternScan_EGF_1,PatternScan_EGF_2,HMMSmart_LamB,superfamily_SSF57196 - no_errors 196 0 0.00 195 167 46.13 1 0 0.00 +STK36 0 genome.wustl.edu 37 2 219563599 219563599 + Missense_Mutation SNP A A G TCGA-AB-2996-03A-01D-0739-09 TCGA-AB-2996-11A-01D-0739-09 A A A G A A Verified Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq 1 dbGAP Illumina HiSeq 625950a0-f786-4158-90b7-89cb96e4a23b 2b2ba0f5-7ab3-4ae0-9828-097cc0e89a15 2 219271843 219271843 A G SNP STK36 NM_015690.3 human genbank 54_36p +1 validated missense c.3332 p.Y1111C 1.000 superfamily_ARM repeat HMMPfam_HEAT,HMMSmart_SM00219,HMMSmart_SM00220,PatternScan_PROTEIN_KINASE_ST,superfamily_Protein kinase-like (PK-like),superfamily_ARM repeat,PatternScan_PROTEIN_KINASE_ATP,HMMPfam_Pkinase - no_errors 331 2 0.60 175 140 44.44 1 6 85.71 +TET2 0 genome.wustl.edu 37 4 106197269 106197269 + Missense_Mutation SNP C C T TCGA-AB-2996-03A-01D-0739-09 TCGA-AB-2996-11A-01D-0739-09 C C C T C C Verified Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq 1 dbGAP Illumina HiSeq 625950a0-f786-4158-90b7-89cb96e4a23b 2b2ba0f5-7ab3-4ae0-9828-097cc0e89a15 4 106416718 106416718 C T SNP TET2 ENST00000265149 human ensembl 54_36p +1 known missense c.2008 p.H670Y 1.000 NULL NULL - no_start_codon 119 2 1.65 274 197 41.83 32 33 50.77 +PCDHGA2 0 genome.wustl.edu 37 5 140719342 140719342 + Silent SNP C C T TCGA-AB-2996-03A-01D-0739-09 TCGA-AB-2996-11A-01D-0739-09 C C C T C C Verified Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq 1 dbGAP Illumina HiSeq 625950a0-f786-4158-90b7-89cb96e4a23b 2b2ba0f5-7ab3-4ae0-9828-097cc0e89a15 5 140699526 140699526 C T SNP PCDHGA2 NM_018915.2 human genbank 54_36p +1 reviewed silent c.804 p.D268 0.635 HMMPfam_Cadherin,HMMSmart_SM00112,superfamily_Cadherin-like HMMPfam_Cadherin,HMMSmart_SM00112,PatternScan_CADHERIN_1,HMMPfam_Cadherin_2,superfamily_Cadherin-like - no_errors 247 2 0.80 171 137 44.48 NA NA NA +KIAA0240 0 genome.wustl.edu 37 6 42832492 42832492 + Missense_Mutation SNP A A G TCGA-AB-2996-03A-01D-0739-09 TCGA-AB-2996-11A-01D-0739-09 A A A G A A Verified Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq 1 dbGAP Illumina HiSeq 625950a0-f786-4158-90b7-89cb96e4a23b 2b2ba0f5-7ab3-4ae0-9828-097cc0e89a15 6 42940470 42940470 A G SNP KIAA0240 NM_015349.1 human genbank 54_36p +1 validated missense c.2548 p.S850G 0.002 NULL NULL - no_errors 234 6 2.50 184 181 49.59 20 16 44.44 +LOC100130301 0 genome.wustl.edu 37 8 74153737 74153737 + Silent SNP G G T TCGA-AB-2996-03A-01D-0739-09 TCGA-AB-2996-11A-01D-0739-09 G G G T G G Verified Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq 1 dbGAP Illumina HiSeq 625950a0-f786-4158-90b7-89cb96e4a23b 2b2ba0f5-7ab3-4ae0-9828-097cc0e89a15 8 74316291 74316291 G T SNP LOC100130301 XM_001721302.1 human genbank 54_36p -1 model silent c.441 p.T147 0.000 NULL NULL - no_errors 93 6 6.06 125 102 44.93 NA NA NA +ADAMTSL1 0 genome.wustl.edu 37 9 18639381 18639381 + Missense_Mutation SNP G G T TCGA-AB-2996-03A-01D-0739-09 TCGA-AB-2996-11A-01D-0739-09 G G G T G G Verified Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq 1 dbGAP Illumina HiSeq 625950a0-f786-4158-90b7-89cb96e4a23b 2b2ba0f5-7ab3-4ae0-9828-097cc0e89a15 9 18629381 18629381 G T SNP ADAMTSL1 NM_001040272.4 human genbank 54_36p +1 validated missense c.806 p.G269V 1.000 NULL HMMPfam_TSP_1,HMMSmart_SM00209,superfamily_TSP-1 type 1 repeat,HMMSmart_SM00408,HMMSmart_SM00409,HMMPfam_PLAC,HMMPfam_I-set,HMMPfam_ig,superfamily_Immunoglobulin - no_errors 167 8 4.57 278 256 47.85 NA NA NA +FAM171A1 0 genome.wustl.edu 37 10 15290664 15290664 + Missense_Mutation SNP G G A TCGA-AB-2996-03A-01D-0739-09 TCGA-AB-2996-11A-01D-0739-09 G G G A G G Verified Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq 1 dbGAP Illumina HiSeq 625950a0-f786-4158-90b7-89cb96e4a23b 2b2ba0f5-7ab3-4ae0-9828-097cc0e89a15 10 15330670 15330670 G A SNP FAM171A1 NM_001010924.1 human genbank 54_36p -1 validated missense c.728 p.A243V 0.765 HMMPfam_UPF0560 HMMPfam_UPF0560 - no_errors 246 0 0.00 267 212 44.26 3 7 70.00 +ITGA8 0 genome.wustl.edu 37 10 15658524 15658524 + Silent SNP G G A TCGA-AB-2996-03A-01D-0739-09 TCGA-AB-2996-11A-01D-0739-09 G G G A G G Verified Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq 1 dbGAP Illumina HiSeq 625950a0-f786-4158-90b7-89cb96e4a23b 2b2ba0f5-7ab3-4ae0-9828-097cc0e89a15 10 15698530 15698530 G A SNP ITGA8 NM_003638.1 human genbank 54_36p -1 provisional silent c.1434 p.V478 0.954 HMMSmart_Int_alpha,superfamily_SSF69318 HMMPfam_Integrin_alpha,HMMPfam_FG-GAP,HMMSmart_Int_alpha,HMMPfam_Integrin_alpha2,PatternScan_INTEGRIN_ALPHA,superfamily_SSF69179,superfamily_SSF69318 - no_errors 270 3 1.10 258 219 45.82 6 0 0.00 +MKX 0 genome.wustl.edu 37 10 28023575 28023575 + Silent SNP G G C TCGA-AB-2996-03A-01D-0739-09 TCGA-AB-2996-11A-01D-0739-09 G G G C G G Verified Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq 1 dbGAP Illumina HiSeq 625950a0-f786-4158-90b7-89cb96e4a23b 2b2ba0f5-7ab3-4ae0-9828-097cc0e89a15 10 28063581 28063581 G C SNP MKX NM_173576.2 human genbank 54_36p -1 validated silent c.648 p.P216 0.635 NULL HMMPfam_Homeobox,HMMSmart_HOX,superfamily_Homeodomain_like,PatternScan_HOMEOBOX_1 - no_errors 257 5 1.91 131 137 50.93 NA NA NA +LOC100131699 0 genome.wustl.edu 37 10 86320745 86320745 + Missense_Mutation SNP G G C TCGA-AB-2996-03A-01D-0739-09 TCGA-AB-2996-11A-01D-0739-09 G G G C G G Verified Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq 1 dbGAP Illumina HiSeq 625950a0-f786-4158-90b7-89cb96e4a23b 2b2ba0f5-7ab3-4ae0-9828-097cc0e89a15 10 86310725 86310725 G C SNP LOC100131699 XM_001723921.1 human genbank 54_36p -1 model missense c.176 p.S59W 1.000 NULL NULL - no_errors 107 4 3.60 135 109 44.67 330 1 0.30 +OR5M5P 0 genome.wustl.edu 37 11 56294543 56294543 + Missense_Mutation SNP C C A TCGA-AB-2996-03A-01D-0739-09 TCGA-AB-2996-11A-01D-0739-09 C C C A C C Verified Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq 1 dbGAP Illumina HiSeq 625950a0-f786-4158-90b7-89cb96e4a23b 2b2ba0f5-7ab3-4ae0-9828-097cc0e89a15 11 56051119 56051119 C A SNP OR5M5P ENST00000341231 human ensembl 54_36p -1 known missense c.196 p.A66S 0.001 HMMPfam_7tm_1,superfamily_Family A G protein-coupled receptor-like HMMPfam_7tm_1,PatternScan_G_PROTEIN_RECEP_F1_1,superfamily_Family A G protein-coupled receptor-like - no_errors 282 2 0.70 223 181 44.80 NA NA NA +GDPD5 0 genome.wustl.edu 37 11 75146565 75146565 + Missense_Mutation SNP C C T TCGA-AB-2996-03A-01D-0739-09 TCGA-AB-2996-11A-01D-0739-09 C C C T C C Verified Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq 1 dbGAP Illumina HiSeq 625950a0-f786-4158-90b7-89cb96e4a23b 2b2ba0f5-7ab3-4ae0-9828-097cc0e89a15 11 74824213 74824213 C T SNP GDPD5 NM_030792.6 human genbank 54_36p -1 validated missense c.1805 p.R602Q 0.235 NULL HMMPfam_GDPD,superfamily_PLC-like phosphodiesterases - no_errors 474 13 2.67 90 74 45.12 14 8 36.36 +NALCN 0 genome.wustl.edu 37 13 102047642 102047642 + Silent SNP G G A TCGA-AB-2996-03A-01D-0739-09 TCGA-AB-2996-11A-01D-0739-09 G G G A G G Verified Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq 1 dbGAP Illumina HiSeq 625950a0-f786-4158-90b7-89cb96e4a23b 2b2ba0f5-7ab3-4ae0-9828-097cc0e89a15 13 100845643 100845643 G A SNP NALCN NM_052867.2 human genbank 54_36p -1 validated silent c.183 p.F61 1.000 superfamily_Voltage-gated potassium channels HMMPfam_Ion_trans,superfamily_Voltage-gated potassium channels - no_errors 131 4 2.96 228 186 44.93 NA NA NA +ZNF213 0 genome.wustl.edu 37 16 3188459 3188459 + Missense_Mutation SNP G G A TCGA-AB-2996-03A-01D-0739-09 TCGA-AB-2996-11A-01D-0739-09 G G G A G G Verified Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq 1 dbGAP Illumina HiSeq 625950a0-f786-4158-90b7-89cb96e4a23b 2b2ba0f5-7ab3-4ae0-9828-097cc0e89a15 16 3128460 3128460 G A SNP ZNF213 NM_004220.1 human genbank 54_36p +1 validated missense c.440 p.R147Q 0.001 NULL HMMPfam_KRAB,HMMSmart_SM00349,superfamily_KRAB domain (Kruppel-associated box Pfam 01352),HMMPfam_SCAN,HMMSmart_SM00431,HMMPfam_zf-C2H2,PatternScan_ZINC_FINGER_C2H2_1,HMMSmart_SM00355,superfamily_C2H2 and C2HC zinc fingers - no_errors 217 0 0.00 171 160 47.76 4 4 50.00 +ZNF616 0 genome.wustl.edu 37 19 52618223 52618223 + Missense_Mutation SNP G G T TCGA-AB-2996-03A-01D-0739-09 TCGA-AB-2996-11A-01D-0739-09 G G G T G G Verified Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq 1 dbGAP Illumina HiSeq 625950a0-f786-4158-90b7-89cb96e4a23b 2b2ba0f5-7ab3-4ae0-9828-097cc0e89a15 19 57310035 57310035 G T SNP ZNF616 NM_178523.3 human genbank 54_36p -1 validated missense c.2194 p.L732I 0.066 HMMPfam_zf-C2H2,PatternScan_ZINC_FINGER_C2H2_1,HMMSmart_ZnF_C2H2,superfamily_SSF57667 HMMPfam_KRAB,HMMSmart_KRAB,superfamily_Krueppel-associated_box,HMMPfam_zf-C2H2,PatternScan_ZINC_FINGER_C2H2_1,HMMSmart_ZnF_C2H2,superfamily_SSF57667 - no_errors 234 3 1.27 116 109 48.44 4 2 33.33 +U2AF1 0 genome.wustl.edu 37 21 44524456 44524456 + Missense_Mutation SNP G G A TCGA-AB-2996-03A-01D-0739-09 TCGA-AB-2996-11A-01D-0739-09 G G G A G G Verified Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq 1 dbGAP Illumina HiSeq 625950a0-f786-4158-90b7-89cb96e4a23b 2b2ba0f5-7ab3-4ae0-9828-097cc0e89a15 21 43397525 43397525 G A SNP U2AF1 NM_001025203.1 human genbank 54_36p -1 reviewed missense c.101 p.S34F 1.000 HMMPfam_zf-CCCH,HMMSmart_ZnF_C3H1 HMMPfam_RRM_1,HMMSmart_RRM,HMMPfam_zf-CCCH,HMMSmart_ZnF_C3H1,superfamily_SSF54928 - no_errors 220 7 3.08 83 61 42.36 71 77 51.68 +TET2 0 genome.wustl.edu 37 4 106190782 106190783 + Frame_Shift_Del DEL AG AG - TCGA-AB-2996-03A-01D-0739-09 TCGA-AB-2996-11A-01D-0739-09 AG AG AG - AG AG Verified Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq 1 dbGAP Illumina HiSeq 625950a0-f786-4158-90b7-89cb96e4a23b 2b2ba0f5-7ab3-4ae0-9828-097cc0e89a15 4 106410231 106410232 AG - DEL TET2 ENST00000265149 human ensembl 54_36p +1 known frame_shift_del c.466_467 p.R156fs 1.000:1.000 NULL NULL - no_start_codon 0 7 3.95 0 189 35.33 0 0 0.00 +LOC648927 0 genome.wustl.edu 37 X 95228569 95228569 + RNA SNP G G A TCGA-AB-2997-03A-01D-0739-09 TCGA-AB-2997-11A-01D-0739-09 G G G A G G Verified Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq 1 dbGAP Illumina HiSeq 5687e321-0c36-4a38-a4c5-d7a26171ac1c d2461e36-f349-4f2b-ba07-92b745c07675 X 95115225 95115225 G A SNP LOC648927 XR_038906.1 human genbank 54_36p -1 model rna NULL NULL 0.998 - - - pseudogene 958 62 6.08 399 309 43.64 NA NA NA +SLC30A6 0 genome.wustl.edu 37 2 32445463 32445463 + Missense_Mutation SNP A A G TCGA-AB-2997-03A-01D-0739-09 TCGA-AB-2997-11A-01D-0739-09 A A A G A A Verified Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq 1 dbGAP Illumina HiSeq 5687e321-0c36-4a38-a4c5-d7a26171ac1c d2461e36-f349-4f2b-ba07-92b745c07675 2 32298967 32298967 A G SNP SLC30A6 NM_017964.2 human genbank 54_36p +1 provisional missense c.1067 p.H356R 1.000 NULL HMMPfam_Cation_efflux - no_errors 926 63 6.37 569 418 42.31 NA NA NA +CUL3 0 genome.wustl.edu 37 2 225449691 225449691 + Missense_Mutation SNP C C A TCGA-AB-2997-03A-01D-0739-09 TCGA-AB-2997-11A-01D-0739-09 C C C A C C Verified Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq 1 dbGAP Illumina HiSeq 5687e321-0c36-4a38-a4c5-d7a26171ac1c d2461e36-f349-4f2b-ba07-92b745c07675 2 225157935 225157935 C A SNP CUL3 NM_003590.3 human genbank 54_36p -1 validated missense c.36 p.K12N 1.000 NULL HMMPfam_Cullin,PatternScan_CULLIN_1,HMMSmart_SM00182,superfamily_Cullin homology domain,superfamily_Cullin repeat,HMMPfam_Cullin_Nedd8,superfamily_"Winged helix" DNA-binding domain - no_errors 199 16 7.44186046511628 102 92 47.4226804123711 NA NA NA +LOC100134687 0 genome.wustl.edu 37 7 6760727 6760727 + Missense_Mutation SNP A A G TCGA-AB-2997-03A-01D-0739-09 TCGA-AB-2997-11A-01D-0739-09 A A A G A A Verified Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq 1 dbGAP Illumina HiSeq 5687e321-0c36-4a38-a4c5-d7a26171ac1c d2461e36-f349-4f2b-ba07-92b745c07675 7 6727252 6727252 A G SNP LOC100134687 XM_001725648.1 human genbank 54_36p -1 model missense c.313 p.W105R 0.000 NULL NULL - no_start_codon:pseudogene:no_stop_codon 1306 108 7.61 343 241 41.13 NA NA NA +DOK2 0 genome.wustl.edu 37 8 21770015 21770015 + Missense_Mutation SNP G G A TCGA-AB-2997-03A-01D-0739-09 TCGA-AB-2997-11A-01D-0739-09 G G G A G G Verified Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq 1 dbGAP Illumina HiSeq 5687e321-0c36-4a38-a4c5-d7a26171ac1c d2461e36-f349-4f2b-ba07-92b745c07675 8 21825961 21825961 G A SNP DOK2 NM_003974.2 human genbank 54_36p -1 reviewed missense c.70 p.R24C 0.996 HMMPfam_PH,HMMSmart_PH,superfamily_SSF50729 HMMPfam_PH,HMMSmart_PH,HMMPfam_IRS,HMMSmart_PTBI,superfamily_SSF50729 - no_errors 218 17 7.23404255319149 165 135 45 NA NA NA +MUC5B 0 genome.wustl.edu 37 11 1272708 1272708 + Silent SNP C C T TCGA-AB-2997-03A-01D-0739-09 TCGA-AB-2997-11A-01D-0739-09 C C C T C C Verified Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq 1 dbGAP Illumina HiSeq 5687e321-0c36-4a38-a4c5-d7a26171ac1c d2461e36-f349-4f2b-ba07-92b745c07675 11 1229284 1229284 C T SNP MUC5B NM_002458.1 human genbank 54_36p +1 validated silent c.14607 p.T4869 0.000 NULL HMMPfam_VWC,HMMSmart_SM00214,PatternScan_VWFC_1,HMMPfam_VWD,HMMSmart_SM00216,superfamily_Serine proterase inhibitors,HMMSmart_SM00041,PatternScan_CTCK_1,HMMPfam_Cys_knot,HMMSmart_SM00215,superfamily_PMP inhibitors,HMMPfam_C8,HMMPfam_TIL - no_errors 210 33 13.5802469135802 21 263 92.6056338028169 NA NA NA +CNTN5 0 genome.wustl.edu 37 11 99944987 99944987 + Missense_Mutation SNP C C T TCGA-AB-2997-03A-01D-0739-09 TCGA-AB-2997-11A-01D-0739-09 C C C T C C Verified Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq 1 dbGAP Illumina HiSeq 5687e321-0c36-4a38-a4c5-d7a26171ac1c d2461e36-f349-4f2b-ba07-92b745c07675 11 99450197 99450197 C T SNP CNTN5 NM_014361.2 human genbank 54_36p +1 reviewed missense c.1541 p.S514F 0.995 HMMSmart_SM00408,HMMSmart_SM00409,HMMPfam_I-set,superfamily_Immunoglobulin HMMSmart_SM00408,HMMSmart_SM00409,HMMPfam_fn3,HMMSmart_SM00060,superfamily_Fibronectin type III,HMMPfam_I-set,HMMPfam_V-set,HMMPfam_ig,superfamily_Immunoglobulin - no_errors 566 46 7.51633986928105 352 290 45.1713395638629 NA NA NA +TPTE2 0 genome.wustl.edu 37 13 20012252 20012252 + Missense_Mutation SNP C C T TCGA-AB-2997-03A-01D-0739-09 TCGA-AB-2997-11A-01D-0739-09 C C C T C C Verified Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq 1 dbGAP Illumina HiSeq 5687e321-0c36-4a38-a4c5-d7a26171ac1c d2461e36-f349-4f2b-ba07-92b745c07675 13 18910252 18910252 C T SNP TPTE2 NM_199254.1 human genbank 54_36p -1 validated missense c.1015 p.E339K 0.271 superfamily_(Phosphotyrosine protein) phosphatases II superfamily_C2 domain (Calcium/lipid-binding domain CaLB),HMMPfam_PTEN_C2,PatternScan_TYR_PHOSPHATASE_1,superfamily_(Phosphotyrosine protein) phosphatases II,superfamily_Voltage-gated potassium channels - no_errors 381 32 7.74818401937046 213 165 43.6507936507937 NA NA NA +DIS3 0 genome.wustl.edu 37 13 73346338 73346338 + Missense_Mutation SNP C C T TCGA-AB-2997-03A-01D-0739-09 TCGA-AB-2997-11A-01D-0739-09 C C C T C C Verified Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq 1 dbGAP Illumina HiSeq 5687e321-0c36-4a38-a4c5-d7a26171ac1c d2461e36-f349-4f2b-ba07-92b745c07675 13 72244339 72244339 C T SNP DIS3 NM_014953.1 human genbank 54_36p -1 validated missense c.1462 p.D488N 1.000 HMMPfam_RNB HMMPfam_RNB,PatternScan_RIBONUCLEASE_II,HMMSmart_SM00670,superfamily_PIN domain-like - no_errors 714 34 4.55 519 414 44.37 NA NA NA +SNHG10 0 genome.wustl.edu 37 14 95999809 95999809 + RNA SNP C C T TCGA-AB-2997-03A-01D-0739-09 TCGA-AB-2997-11A-01D-0739-09 C C C T C C Verified Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq 1 dbGAP Illumina HiSeq 5687e321-0c36-4a38-a4c5-d7a26171ac1c d2461e36-f349-4f2b-ba07-92b745c07675 14 95069562 95069562 C T SNP SNHG10 NR_003138.2 human genbank 54_36p -1 validated rna NULL NULL 1.000 - - - no_errors 502 44 8.05860805860806 223 277 55.4 NA NA NA +DNAH9 0 genome.wustl.edu 37 17 11572805 11572805 + Missense_Mutation SNP T T G TCGA-AB-2997-03A-01D-0739-09 TCGA-AB-2997-11A-01D-0739-09 T T T G T T Verified Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq 1 dbGAP Illumina HiSeq 5687e321-0c36-4a38-a4c5-d7a26171ac1c d2461e36-f349-4f2b-ba07-92b745c07675 17 11513530 11513530 T G SNP DNAH9 NM_001372.3 human genbank 54_36p +1 reviewed missense c.3047 p.L1016R 1.000 NULL HMMSmart_SM00382,HMMPfam_Dynein_heavy,PatternScan_CPSASE_2,HMMPfam_AAA_5,HMMPfam_DHC_N1,HMMPfam_DHC_N2,superfamily_Spectrin repeat,superfamily_P-loop containing nucleoside triphosphate hydrolases - no_errors 1085 70 6.06 765 675 46.81 NA NA NA +LOC100132713 0 genome.wustl.edu 37 18 76264686 76264686 + Missense_Mutation SNP C C G TCGA-AB-2997-03A-01D-0739-09 TCGA-AB-2997-11A-01D-0739-09 C C C G C C Verified Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq 1 dbGAP Illumina HiSeq 5687e321-0c36-4a38-a4c5-d7a26171ac1c d2461e36-f349-4f2b-ba07-92b745c07675 18 74365674 74365674 C G SNP LOC100132713 XM_001714438.1 human genbank 54_36p +1 model missense c.975 p.S325R 0.005 NULL NULL - no_errors 21 1 4.55 9 0 0.00 NA NA NA +PSG7 0 genome.wustl.edu 37 19 43439829 43439829 + Missense_Mutation SNP G G T TCGA-AB-2997-03A-01D-0739-09 TCGA-AB-2997-11A-01D-0739-09 G G G T G G Verified Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq 1 dbGAP Illumina HiSeq 5687e321-0c36-4a38-a4c5-d7a26171ac1c d2461e36-f349-4f2b-ba07-92b745c07675 19 48131669 48131669 G T SNP PSG7 NM_002783.2 human genbank 54_36p -1 reviewed missense c.157 p.L53I 0.003 HMMSmart_SM00409,HMMPfam_V-set,superfamily_Immunoglobulin HMMSmart_SM00408,HMMSmart_SM00409,HMMPfam_V-set,HMMPfam_ig,superfamily_Immunoglobulin - pseudogene 142 8 5.33333333333333 95 103 52.020202020202 NA NA NA +MYBL2 0 genome.wustl.edu 37 20 42343911 42343911 + Silent SNP G G A TCGA-AB-2997-03A-01D-0739-09 TCGA-AB-2997-11A-01D-0739-09 G G G A G G Verified Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq 1 dbGAP Illumina HiSeq 5687e321-0c36-4a38-a4c5-d7a26171ac1c d2461e36-f349-4f2b-ba07-92b745c07675 20 41777325 41777325 G A SNP MYBL2 NM_002466.2 human genbank 54_36p +1 reviewed silent c.1962 p.T654 0.000 NULL HMMSmart_SM00717,superfamily_Homeodomain-like,HMMPfam_Myb_DNA-binding,HMMPfam_Cmyb_C - no_errors 362 40 9.95024875621891 232 187 44.6300715990453 NA NA NA +CELSR1 0 genome.wustl.edu 37 22 46765662 46765662 + Missense_Mutation SNP G G T TCGA-AB-2997-03A-01D-0739-09 TCGA-AB-2997-11A-01D-0739-09 G G G T G G Verified Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq 1 dbGAP Illumina HiSeq 5687e321-0c36-4a38-a4c5-d7a26171ac1c d2461e36-f349-4f2b-ba07-92b745c07675 22 45144326 45144326 G T SNP CELSR1 NM_014246.1 human genbank 54_36p -1 reviewed missense c.7799 p.P2600H 0.998 HMMPfam_7tm_2 PatternScan_ASX_HYDROXYL,HMMPfam_GPS,HMMSmart_SM00303,HMMPfam_7tm_2,HMMSmart_SM00282,HMMPfam_HRM,HMMSmart_SM00008,HMMSmart_SM00179,HMMPfam_Laminin_EGF,HMMSmart_SM00180,PatternScan_EGF_LAM_1,HMMPfam_Cadherin,HMMSmart_SM00112,PatternScan_CADHERIN_1,HMMPfam_EGF,HMMSmart_SM00181,superfamily_Concanavalin A-like lectins/glucanases,HMMPfam_Laminin_G_2,PatternScan_EGF_1,PatternScan_EGF_2,superfamily_Cadherin-like,superfamily_EGF/Laminin - no_errors 352 24 6.38297872340425 234 181 43.6144578313253 NA NA NA +AKAP13 0 genome.wustl.edu 37 15 86262345 86262351 + Frame_Shift_Del DEL AAGATCA AAGATCA - TCGA-AB-2997-03A-01D-0739-09 TCGA-AB-2997-11A-01D-0739-09 AAGATCA AAGATCA AAGATCA - AAGATCA AAGATCA Verified Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq 1 dbGAP Illumina HiSeq 5687e321-0c36-4a38-a4c5-d7a26171ac1c d2461e36-f349-4f2b-ba07-92b745c07675 15 84063349 84063355 AAGATCA - DEL AKAP13 NM_006738.4 human genbank 54_36p +1 reviewed frame_shift_del c.6052_6058 p.K2018fs 1.000:1.000:1.000:1.000:1.000:1.000:1.000 HMMPfam_RhoGEF,HMMSmart_RhoGEF,superfamily_DH-domain HMMPfam_RhoGEF,HMMSmart_RhoGEF,superfamily_DH-domain,HMMPfam_PH,HMMSmart_PH,superfamily_ANK,HMMPfam_C1_1,HMMSmart_C1,PatternScan_ZF_DAG_PE_1,PatternScan_EF_HAND_1,HMMPfam_RII_binding_1,superfamily_SSF50729,superfamily_SSF57889 - no_errors 735 61 7.66331658291457 411 336 44.9799196787149 NA NA NA +NYX 0 genome.wustl.edu 37 X 41334035 41334035 + Silent SNP C C T TCGA-AB-2998-03A-01D-0739-09 TCGA-AB-2998-11A-01D-0739-09 C C C T C C Verified Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq 1 dbGAP Illumina HiSeq 9aae9f69-be50-4c20-b084-a5fdc939a7df 86091afe-5087-48c5-8511-ed4320df0d01 X 41218979 41218979 C T SNP NYX NM_022567.2 human genbank 54_36p +1 reviewed silent c.1329 p.S443 0.000 NULL HMMPfam_LRRNT,HMMSmart_LRRNT,HMMSmart_LRRCT,HMMPfam_LRR_1,HMMSmart_LRR_TYP,superfamily_SSF52058 - no_errors 134 2 1.46 103 95 47.74 NA NA NA +FLG 0 genome.wustl.edu 37 1 152281734 152281734 + Silent SNP G G A TCGA-AB-2998-03A-01D-0739-09 TCGA-AB-2998-11A-01D-0739-09 G G G A G G Verified Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq 1 dbGAP Illumina HiSeq 9aae9f69-be50-4c20-b084-a5fdc939a7df 86091afe-5087-48c5-8511-ed4320df0d01 1 150548358 150548358 G A SNP FLG NM_002016.1 human genbank 54_36p -1 provisional silent c.5628 p.D1876 0.000 HMMPfam_Filaggrin PatternScan_S100_CABP,HMMPfam_Filaggrin,HMMPfam_S_100,PatternScan_EF_HAND_1,superfamily_SSF47473 - no_errors 360 1 0.28 288 252 46.58 NA NA NA +FAM5C 0 genome.wustl.edu 37 1 190067294 190067294 + Missense_Mutation SNP G G A TCGA-AB-2998-03A-01D-0739-09 TCGA-AB-2998-11A-01D-0739-09 G G G A G G Verified Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq 1 dbGAP Illumina HiSeq 9aae9f69-be50-4c20-b084-a5fdc939a7df 86091afe-5087-48c5-8511-ed4320df0d01 1 188333917 188333917 G A SNP FAM5C NM_199051.1 human genbank 54_36p -1 provisional missense c.2155 p.R719C 1.000 NULL HMMPfam_MACPF,HMMSmart_SM00457 - no_errors 1122 4 0.36 692 633 47.70 NA NA NA +PCDHGA9 0 genome.wustl.edu 37 5 140782843 140782843 + Silent SNP C C T TCGA-AB-2998-03A-01D-0739-09 TCGA-AB-2998-11A-01D-0739-09 C C C T C C Verified Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq 1 dbGAP Illumina HiSeq 9aae9f69-be50-4c20-b084-a5fdc939a7df 86091afe-5087-48c5-8511-ed4320df0d01 5 140763027 140763027 C T SNP PCDHGA9 NM_018921.2 human genbank 54_36p +1 reviewed silent c.324 p.V108 0.000 HMMSmart_SM00112,HMMPfam_Cadherin_2,superfamily_Cadherin-like HMMPfam_Cadherin,HMMSmart_SM00112,PatternScan_CADHERIN_1,HMMPfam_Cadherin_2,superfamily_Cadherin-like - no_errors 236 1 0.42 214 119 35.74 NA NA NA +SLC37A2 0 genome.wustl.edu 37 11 124955556 124955556 + Missense_Mutation SNP G G A TCGA-AB-2998-03A-01D-0739-09 TCGA-AB-2998-11A-01D-0739-09 G G G A G G Verified Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq 1 dbGAP Illumina HiSeq 9aae9f69-be50-4c20-b084-a5fdc939a7df 86091afe-5087-48c5-8511-ed4320df0d01 11 124460766 124460766 G A SNP SLC37A2 NM_198277.1 human genbank 54_36p +1 validated missense c.1411 p.V471I 0.020 superfamily_MFS_gen_substrate_transporter HMMPfam_MFS_1,superfamily_MFS_gen_substrate_transporter - no_errors 529 2 0.38 433 401 48.08 2 2 50.00 +PA2G4 0 genome.wustl.edu 37 12 56501002 56501002 + Missense_Mutation SNP G G A TCGA-AB-2998-03A-01D-0739-09 TCGA-AB-2998-11A-01D-0739-09 G G G A G G Verified Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq 1 dbGAP Illumina HiSeq 9aae9f69-be50-4c20-b084-a5fdc939a7df 86091afe-5087-48c5-8511-ed4320df0d01 12 54787269 54787269 G A SNP PA2G4 NM_006191.2 human genbank 54_36p +1 reviewed missense c.355 p.A119T 1.000 HMMPfam_Peptidase_M24,superfamily_Peptidase_M24_cat_core,PatternScan_MAP_2 HMMPfam_Peptidase_M24,superfamily_Peptidase_M24_cat_core,PatternScan_MAP_2,superfamily_SSF46785 - no_errors 577 12 2.04 411 371 47.44 52 61 53.98 +HERC1 0 genome.wustl.edu 37 15 63966558 63966558 + Missense_Mutation SNP C C T TCGA-AB-2998-03A-01D-0739-09 TCGA-AB-2998-11A-01D-0739-09 C C C T C C Verified Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq 1 dbGAP Illumina HiSeq 9aae9f69-be50-4c20-b084-a5fdc939a7df 86091afe-5087-48c5-8511-ed4320df0d01 15 61753611 61753611 C T SNP HERC1 NM_003922.3 human genbank 54_36p -1 reviewed missense c.7829 p.G2610E 1.000 NULL HMMPfam_RCC1,PatternScan_RCC1_2,HMMPfam_HECT,HMMSmart_SM00119,superfamily_Hect E3 ligase catalytic domain,HMMSmart_SM00320,HMMPfam_SPRY,PatternScan_ARGINASE_2,PatternScan_PHOSPHOPANTETHEINE,superfamily_RCC1/BLIP-II,superfamily_WD40 repeat-like,HMMSmart_SM00449,PatternScan_WD_REPEATS_1,HMMPfam_WD40 - no_errors 1160 9 0.77 661 576 46.49 26 14 35.00 +PLIN1 0 genome.wustl.edu 37 15 90209105 90209105 + Silent SNP G G T TCGA-AB-2998-03A-01D-0739-09 TCGA-AB-2998-11A-01D-0739-09 G G G T G G Verified Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq 1 dbGAP Illumina HiSeq 9aae9f69-be50-4c20-b084-a5fdc939a7df 86091afe-5087-48c5-8511-ed4320df0d01 15 88010109 88010109 G T SNP PLIN NM_002666.1 human genbank 54_36p -1 reviewed silent c.1278 p.V426 0.001 NULL HMMPfam_Perilipin - no_errors 185 4 2.12 127 119 48.37 NA NA NA +PKD1L2 0 genome.wustl.edu 37 16 81241125 81241125 + Silent SNP G G A TCGA-AB-2998-03A-01D-0739-09 TCGA-AB-2998-11A-01D-0739-09 G G G A G G Verified Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq 1 dbGAP Illumina HiSeq 9aae9f69-be50-4c20-b084-a5fdc939a7df 86091afe-5087-48c5-8511-ed4320df0d01 16 79798626 79798626 G A SNP PKD1L2 NM_001076780.1 human genbank 54_36p -1 reviewed silent c.876 p.D292 0.997 NULL HMMPfam_Lectin_C,HMMSmart_SM00034,superfamily_C-type lectin-like - no_errors 679 2 0.29 425 299 41.30 NA NA NA +FLT3 0 genome.wustl.edu 37 13 28608255 28608256 + In_Frame_Ins INS - - ATCATATTCATATTCTCTGAA TCGA-AB-2998-03A-01D-0739-09 TCGA-AB-2998-11A-01D-0739-09 - - - ATCATATTCATATTCTCTGAA - - Verified Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq 1 dbGAP Illumina HiSeq 9aae9f69-be50-4c20-b084-a5fdc939a7df 86091afe-5087-48c5-8511-ed4320df0d01 13 27506255 27506256 - ATCATATTCATATTCTCTGAA INS FLT3 NM_004119.2 human genbank 54_36p -1 reviewed in_frame_ins c.1801_1800 p.600in_frame_insFREYEYD 1.000:0.998 superfamily_Kinase_like HMMPfam_Pkinase_Tyr,HMMSmart_TyrKc,PatternScan_RECEPTOR_TYR_KIN_III,PatternScan_PROTEIN_KINASE_TYR,superfamily_Kinase_like,HMMPfam_ig,PatternScan_PROTEIN_KINASE_ATP,superfamily_SSF48726 - no_errors NA NA NA NA NA NA NA NA NA +HSP90B3P 0 genome.wustl.edu 37 1 92108588 92108588 + Silent SNP T T C TCGA-AB-2999-03A-01D-0739-09 TCGA-AB-2999-11A-01D-0739-09 T T T C T T Verified Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq 1 dbGAP Illumina HiSeq 1111edc5-c274-453b-88b4-a992ac879d74 3357e03b-0ffd-40ac-acd4-4806dff7d769 1 91881176 91881176 T C SNP HSP90B3P ENST00000370405 human ensembl 54_36p +1 known silent c.615 p.T205 0.990 superfamily_Ribosomal_S5_D2-typ_fold,HMMPfam_HSP90 superfamily_Ribosomal_S5_D2-typ_fold,HMMPfam_HSP90,superfamily_SSF110942 - no_errors 1531 0 0.00 1050 690 39.66 121 0 0.00 +DDR2 0 genome.wustl.edu 37 1 162731018 162731018 + Missense_Mutation SNP G G A TCGA-AB-2999-03A-01D-0739-09 TCGA-AB-2999-11A-01D-0739-09 G G G A G G Verified Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq 1 dbGAP Illumina HiSeq 1111edc5-c274-453b-88b4-a992ac879d74 3357e03b-0ffd-40ac-acd4-4806dff7d769 1 160997642 160997642 G A SNP DDR2 NM_001014796.1 human genbank 54_36p +1 reviewed missense c.873 p.M291I 1.000 NULL HMMPfam_F5_F8_type_C,HMMSmart_FA58C,PatternScan_FA58C_1,PatternScan_FA58C_2,HMMPfam_Pkinase_Tyr,HMMSmart_TyrKc,PatternScan_RECEPTOR_TYR_KIN_II,PatternScan_PROTEIN_KINASE_TYR,superfamily_Gal_bind_like,superfamily_Kinase_like - no_errors 1484 1 0.07 1076 845 43.99 NA NA NA +SHQ1 0 genome.wustl.edu 37 3 72866458 72866458 + Missense_Mutation SNP G G C TCGA-AB-2999-03A-01D-0739-09 TCGA-AB-2999-11A-01D-0739-09 G G G C G G Verified Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq 1 dbGAP Illumina HiSeq 1111edc5-c274-453b-88b4-a992ac879d74 3357e03b-0ffd-40ac-acd4-4806dff7d769 3 72949148 72949148 G C SNP SHQ1 NM_018130.2 human genbank 54_36p -1 validated missense c.805 p.R269G 0.063 HMMPfam_SHQ1 HMMPfam_SHQ1,superfamily_HSP20_chap,HMMPfam_CS - no_errors 1359 0 0.00 892 555 38.36 14 10 41.67 +COL11A2 0 genome.wustl.edu 37 6 33151995 33151995 + Missense_Mutation SNP C C T TCGA-AB-2999-03A-01D-0739-09 TCGA-AB-2999-11A-01D-0739-09 C C C T C C Verified Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq 1 dbGAP Illumina HiSeq 1111edc5-c274-453b-88b4-a992ac879d74 3357e03b-0ffd-40ac-acd4-4806dff7d769 6 33259973 33259973 C T SNP COL11A2 NM_080680.2 human genbank 54_36p -1 reviewed missense c.1046 p.G349D 0.999 NULL HMMPfam_COLFI,HMMSmart_SM00038,HMMSmart_SM00282,HMMSmart_SM00210,HMMPfam_Collagen,superfamily_Concanavalin A-like lectins/glucanases,HMMPfam_Laminin_G_2 - no_errors 663 0 0.00 195 117 37.38 NA NA NA +SEPT14 0 genome.wustl.edu 37 7 55902220 55902220 + Silent SNP C C T TCGA-AB-2999-03A-01D-0739-09 TCGA-AB-2999-11A-01D-0739-09 C C C T C C Verified Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq 1 dbGAP Illumina HiSeq 1111edc5-c274-453b-88b4-a992ac879d74 3357e03b-0ffd-40ac-acd4-4806dff7d769 7 55869714 55869714 C T SNP SEPT14 NM_207366.2 human genbank 54_36p -1 validated silent c.618 p.T206 0.808 HMMPfam_Septin,superfamily_P-loop containing nucleoside triphosphate hydrolases HMMPfam_Septin,superfamily_P-loop containing nucleoside triphosphate hydrolases - no_errors 873 0 0.00 837 551 39.70 0 0 0.00 +PPP1R9A 0 genome.wustl.edu 37 7 94879489 94879489 + Missense_Mutation SNP A A G TCGA-AB-2999-03A-01D-0739-09 TCGA-AB-2999-11A-01D-0739-09 A A A G A A Verified Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq 1 dbGAP Illumina HiSeq 1111edc5-c274-453b-88b4-a992ac879d74 3357e03b-0ffd-40ac-acd4-4806dff7d769 7 94717425 94717425 A G SNP PPP1R9A NM_017650.2 human genbank 54_36p +1 validated missense c.2252 p.K751R 1.000 NULL HMMPfam_PDZ,HMMSmart_SM00228,superfamily_PDZ domain-like,HMMSmart_SM00454,superfamily_SAM/Pointed domain,HMMPfam_SAM_2 - no_errors 1282 1 0.08 827 575 40.98 NA NA NA +HTR5A 0 genome.wustl.edu 37 7 154862893 154862893 + Missense_Mutation SNP C C G TCGA-AB-2999-03A-01D-0739-09 TCGA-AB-2999-11A-01D-0739-09 C C C G C C Verified Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq 1 dbGAP Illumina HiSeq 1111edc5-c274-453b-88b4-a992ac879d74 3357e03b-0ffd-40ac-acd4-4806dff7d769 7 154493826 154493826 C G SNP HTR5A NM_024012.2 human genbank 54_36p +1 reviewed missense c.284 p.P95R 0.994 HMMPfam_7tm_1,superfamily_Family A G protein-coupled receptor-like HMMPfam_7tm_1,PatternScan_G_PROTEIN_RECEP_F1_1,superfamily_Family A G protein-coupled receptor-like - no_errors 584 0 0.00 378 248 39.62 NA NA NA +ABL1 0 genome.wustl.edu 37 9 133760430 133760430 + Missense_Mutation SNP C C T TCGA-AB-2999-03A-01D-0739-09 TCGA-AB-2999-11A-01D-0739-09 C C C T C C Verified Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq 1 dbGAP Illumina HiSeq 1111edc5-c274-453b-88b4-a992ac879d74 3357e03b-0ffd-40ac-acd4-4806dff7d769 9 132750251 132750251 C T SNP ABL1 NM_007313.3 human genbank 54_36p +1 reviewed missense c.2810 p.P937L 0.837 NULL HMMPfam_SH2,HMMSmart_SM00252,HMMPfam_Pkinase_Tyr,HMMSmart_SM00219,HMMPfam_SH3_1,HMMSmart_SM00326,superfamily_SH3-domain,HMMSmart_SM00220,PatternScan_PROTEIN_KINASE_TYR,superfamily_Protein kinase-like (PK-like),HMMPfam_F_actin_bind,HMMSmart_SM00808,PatternScan_PROTEIN_KINASE_ATP,superfamily_SH2 domain - no_errors 380 0 0.00 298 207 40.75 18 14 43.75 +UNC5B 0 genome.wustl.edu 37 10 73055655 73055655 + Missense_Mutation SNP C C T TCGA-AB-2999-03A-01D-0739-09 TCGA-AB-2999-11A-01D-0739-09 C C C T C C Verified Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq 1 dbGAP Illumina HiSeq 1111edc5-c274-453b-88b4-a992ac879d74 3357e03b-0ffd-40ac-acd4-4806dff7d769 10 72725661 72725661 C T SNP UNC5B NM_170744.3 human genbank 54_36p +1 validated missense c.2263 p.R755C 1.000 NULL HMMPfam_Death,HMMSmart_SM00005,HMMPfam_TSP_1,HMMSmart_SM00209,superfamily_TSP-1 type 1 repeat,HMMPfam_ZU5,HMMSmart_SM00218,HMMSmart_SM00408,HMMSmart_SM00409,superfamily_DEATH domain,HMMPfam_I-set,superfamily_Immunoglobulin - no_errors 955 0 0.00 363 259 41.64 1 1 50.00 +GDPD4 0 genome.wustl.edu 37 11 76982212 76982212 + Nonsense_Mutation SNP C C T TCGA-AB-2999-03A-01D-0739-09 TCGA-AB-2999-11A-01D-0739-09 C C C T C C Verified Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq 1 dbGAP Illumina HiSeq 1111edc5-c274-453b-88b4-a992ac879d74 3357e03b-0ffd-40ac-acd4-4806dff7d769 11 76659860 76659860 C T SNP GDPD4 NM_182833.1 human genbank 54_36p -1 provisional nonsense c.363 p.W121* 0.997 NULL HMMPfam_GDPD,superfamily_PLC-like_Pdiesterase_TIM-brl - no_errors 1967 1 0.05 1189 862 42.01 0 0 0.00 +MAGEL2 0 genome.wustl.edu 37 15 23890248 23890248 + Missense_Mutation SNP C C T TCGA-AB-2999-03A-01D-0739-09 TCGA-AB-2999-11A-01D-0739-09 C C C T C C Verified Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq 1 dbGAP Illumina HiSeq 1111edc5-c274-453b-88b4-a992ac879d74 3357e03b-0ffd-40ac-acd4-4806dff7d769 15 21441341 21441341 C T SNP MAGEL2 NM_019066.3 human genbank 54_36p -1 validated missense c.833 p.R278H 0.002 NULL HMMPfam_MAGE - no_errors 276 0 0.00 584 304 34.16 NA NA NA +MEGF11 0 genome.wustl.edu 37 15 66190368 66190368 + Silent SNP G G A TCGA-AB-2999-03A-01D-0739-09 TCGA-AB-2999-11A-01D-0739-09 G G G A G G Verified Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq 1 dbGAP Illumina HiSeq 1111edc5-c274-453b-88b4-a992ac879d74 3357e03b-0ffd-40ac-acd4-4806dff7d769 15 63977422 63977422 G A SNP MEGF11 NM_032445.2 human genbank 54_36p -1 validated silent c.2814 p.Y938 1.000 NULL HMMPfam_Laminin_EGF,HMMSmart_EGF_Lam,HMMSmart_EGF,PatternScan_EGF_1,PatternScan_EGF_2,HMMPfam_EGF_2,superfamily_SSF57196 - no_errors 836 0 0.00 619 174 21.94 NA NA NA +TCEAL3 0 genome.wustl.edu 37 X 102864442 102864442 + Silent SNP A A G TCGA-AB-3000-03A-01D-0739-09 TCGA-AB-3000-11A-01D-0739-09 A A A G A A Verified Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq 1 dbGAP Illumina HiSeq 3d9c2b87-cd6b-4a73-b9a7-9be8a4f37fd3 c9e8fc7e-5ba0-424a-8659-433c2a7470ea X 102751098 102751098 A G SNP TCEAL3 NM_001006933.1 human genbank 54_36p +1 reviewed silent c.450 p.Q150 1.000 HMMPfam_TFA HMMPfam_TFA - no_errors 839 161 16.02 393 160 28.83 16 0 0.00 +CLCN6 0 genome.wustl.edu 37 1 11897508 11897508 + Missense_Mutation SNP G G C TCGA-AB-3000-03A-01D-0739-09 TCGA-AB-3000-11A-01D-0739-09 G G G C G G Verified Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq 1 dbGAP Illumina HiSeq 3d9c2b87-cd6b-4a73-b9a7-9be8a4f37fd3 c9e8fc7e-5ba0-424a-8659-433c2a7470ea 1 11820095 11820095 G C SNP CLCN6 NM_001286.2 human genbank 54_36p +1 reviewed missense c.2247 p.Q749H 1.000 HMMPfam_CBS HMMPfam_CBS,HMMSmart_SM00116,HMMPfam_Voltage_CLC,superfamily_Clc chloride channel,superfamily_CBS-domain - no_errors 1118 263 19.03 469 534 53.13 20 14 41.18 +DYSF 0 genome.wustl.edu 37 2 71795376 71795376 + Silent SNP C C T TCGA-AB-3000-03A-01D-0739-09 TCGA-AB-3000-11A-01D-0739-09 C C C T C C Verified Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq 1 dbGAP Illumina HiSeq 3d9c2b87-cd6b-4a73-b9a7-9be8a4f37fd3 c9e8fc7e-5ba0-424a-8659-433c2a7470ea 2 71648884 71648884 C T SNP DYSF NM_003494.1 human genbank 54_36p +1 reviewed silent c.2718 p.D906 0.981 HMMSmart_SM00693 HMMPfam_C2,HMMSmart_SM00239,HMMSmart_SM00693,HMMSmart_SM00694,superfamily_C2 domain (Calcium/lipid-binding domain CaLB),HMMPfam_FerA,HMMPfam_FerB,HMMPfam_FerI - no_errors 1456 383 20.76 379 319 45.64 17 16 48.48 +LOC344875 0 genome.wustl.edu 37 3 15206512 15206512 + Missense_Mutation SNP C C A TCGA-AB-3000-03A-01D-0739-09 TCGA-AB-3000-11A-01D-0739-09 C C C A C C Verified Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq 1 dbGAP Illumina HiSeq 3d9c2b87-cd6b-4a73-b9a7-9be8a4f37fd3 c9e8fc7e-5ba0-424a-8659-433c2a7470ea 3 15181516 15181516 C A SNP LOC344875 XM_497913.1 human genbank 54_36p -1 model missense c.2954 p.C985F 1.000 HMMSmart_SM00327,superfamily_vWA-like HMMPfam_VWA,HMMSmart_SM00327,superfamily_vWA-like - no_errors 1399 351 20.01 669 546 44.94 NA NA NA +CEBPA 0 genome.wustl.edu 37 19 33793146 33793146 + Nonsense_Mutation SNP C C A TCGA-AB-3000-03A-01D-0739-09 TCGA-AB-3000-11A-01D-0739-09 C C C A C C Verified Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq 1 dbGAP Illumina HiSeq 3d9c2b87-cd6b-4a73-b9a7-9be8a4f37fd3 c9e8fc7e-5ba0-424a-8659-433c2a7470ea 19 38484986 38484986 C A SNP CEBPA NM_004364.3 human genbank 54_36p -1 reviewed nonsense c.175 p.E59* 1.000 NULL HMMSmart_BRLZ,PatternScan_BZIP_BASIC,HMMPfam_bZIP_2 - no_errors 0 1 100.00 1 0 0.00 177 231 56.20 +CEBPA 0 genome.wustl.edu 37 19 33792390 33792391 + In_Frame_Ins INS - - CCA TCGA-AB-3000-03A-01D-0739-09 TCGA-AB-3000-11A-01D-0739-09 - - - CCA - - Verified Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq 1 dbGAP Illumina HiSeq 3d9c2b87-cd6b-4a73-b9a7-9be8a4f37fd3 c9e8fc7e-5ba0-424a-8659-433c2a7470ea 19 38484230 38484231 - CCA INS CEBPA NM_004364.3 human genbank 54_36p -1 reviewed in_frame_ins c.931_930 p.310in_frame_insW 1.000:1.000 HMMSmart_BRLZ,HMMPfam_bZIP_2 HMMSmart_BRLZ,PatternScan_BZIP_BASIC,HMMPfam_bZIP_2 - no_errors 110 21 16.03 76 51 40.16 327 211 39.22 +USP9X 0 genome.wustl.edu 37 X 41010296 41010296 + Silent SNP G G A TCGA-AB-3001-03A-01D-0739-09 TCGA-AB-3001-11A-01D-0739-09 G G G A G G Verified Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq 1 dbGAP Illumina HiSeq 1ab338ac-7a1e-4796-9464-d0e3218050ea 89734d2a-e63f-4255-8f4a-223187fa0daf X 40895240 40895240 G A SNP USP9X NM_001039590.2 human genbank 54_36p +1 reviewed silent c.1749 p.A583 0.996 NULL HMMPfam_UCH,PatternScan_UCH_2_1,PatternScan_UCH_2_2,superfamily_Cysteine proteinases - no_errors 703 1 0.14 326 120 26.91 58 0 0.00 +AFF2 0 genome.wustl.edu 37 X 147891443 147891443 + Missense_Mutation SNP G G A TCGA-AB-3001-03A-01D-0739-09 TCGA-AB-3001-11A-01D-0739-09 G G G A G G Verified Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq 1 dbGAP Illumina HiSeq 1ab338ac-7a1e-4796-9464-d0e3218050ea 89734d2a-e63f-4255-8f4a-223187fa0daf X 147699135 147699135 G A SNP AFF2 NM_002025.2 human genbank 54_36p +1 validated missense c.1085 p.R362Q 1.000 HMMPfam_AF-4 HMMPfam_AF-4 - no_errors 1422 7 0.49 387 121 23.82 252 0 0.00 +CACNA1E 0 genome.wustl.edu 37 1 181754552 181754552 + Missense_Mutation SNP C C G TCGA-AB-3001-03A-01D-0739-09 TCGA-AB-3001-11A-01D-0739-09 C C C G C C Verified Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq 1 dbGAP Illumina HiSeq 1ab338ac-7a1e-4796-9464-d0e3218050ea 89734d2a-e63f-4255-8f4a-223187fa0daf 1 180021175 180021175 C G SNP CACNA1E NM_000721.2 human genbank 54_36p +1 reviewed missense c.5677 p.Q1893E 1.000 HMMPfam_Ca_chan_IQ HMMPfam_Ion_trans,HMMPfam_Ca_chan_IQ,superfamily_Voltage-gated potassium channels - no_errors 1466 6 0.41 878 377 30.04 NA NA NA +LOC26010 0 genome.wustl.edu 37 2 201337597 201337597 + Missense_Mutation SNP G G T TCGA-AB-3001-03A-01D-0739-09 TCGA-AB-3001-11A-01D-0739-09 G G G T G G Verified Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq 1 dbGAP Illumina HiSeq 1ab338ac-7a1e-4796-9464-d0e3218050ea 89734d2a-e63f-4255-8f4a-223187fa0daf 2 201045842 201045842 G T SNP LOC26010 NM_001100422.1 human genbank 54_36p +1 validated missense c.1103 p.S368I 1.000 HMMPfam_DUF1387 HMMPfam_DUF1387 - no_errors 980 2 0.20 514 113 18.02 8 2 20.00 +SI 0 genome.wustl.edu 37 3 164730805 164730805 + Missense_Mutation SNP G G T TCGA-AB-3001-03A-01D-0739-09 TCGA-AB-3001-11A-01D-0739-09 G G G T G G Verified Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq 1 dbGAP Illumina HiSeq 1ab338ac-7a1e-4796-9464-d0e3218050ea 89734d2a-e63f-4255-8f4a-223187fa0daf 3 166213499 166213499 G T SNP SI NM_001041.2 human genbank 54_36p -1 validated missense c.4025 p.T1342K 0.808 HMMPfam_Glyco_hydro_31,superfamily_(Trans)glycosidases HMMPfam_Glyco_hydro_31,PatternScan_GLYCOSYL_HYDROL_F31_1,PatternScan_GLYCOSYL_HYDROL_F31_2,HMMPfam_Trefoil,HMMSmart_SM00018,superfamily_Trefoil,superfamily_(Trans)glycosidases,PatternScan_P_TREFOIL - no_errors 987 4 0.40 510 227 30.80 NA NA NA +C5orf25 0 genome.wustl.edu 37 5 175717167 175717167 + Missense_Mutation SNP C C T TCGA-AB-3001-03A-01D-0739-09 TCGA-AB-3001-11A-01D-0739-09 C C C T C C Verified Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq 1 dbGAP Illumina HiSeq 1ab338ac-7a1e-4796-9464-d0e3218050ea 89734d2a-e63f-4255-8f4a-223187fa0daf 5 175649773 175649773 C T SNP C5orf25 NM_198567.4 human genbank 54_36p +1 validated missense c.583 p.R195C 0.021 NULL NULL - no_errors 2500 13 0.52 693 305 30.53 6 17 73.91 +RUFY1 0 genome.wustl.edu 37 5 179025796 179025796 + Missense_Mutation SNP C C G TCGA-AB-3001-03A-01D-0739-09 TCGA-AB-3001-11A-01D-0739-09 C C C G C C Verified Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq 1 dbGAP Illumina HiSeq 1ab338ac-7a1e-4796-9464-d0e3218050ea 89734d2a-e63f-4255-8f4a-223187fa0daf 5 178958402 178958402 C G SNP RUFY1 NM_025158.1 human genbank 54_36p +1 validated missense c.1735 p.L579V 1.000 NULL HMMPfam_FYVE,HMMSmart_SM00064,HMMPfam_RUN,HMMSmart_SM00593,superfamily_FYVE/PHD zinc finger - no_errors 752 5 0.66 678 156 18.68 44 13 22.81 +HIVEP1 0 genome.wustl.edu 37 6 12122529 12122529 + Missense_Mutation SNP T T C TCGA-AB-3001-03A-01D-0739-09 TCGA-AB-3001-11A-01D-0739-09 T T T C T T Verified Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq 1 dbGAP Illumina HiSeq 1ab338ac-7a1e-4796-9464-d0e3218050ea 89734d2a-e63f-4255-8f4a-223187fa0daf 6 12230515 12230515 T C SNP HIVEP1 NM_002114.2 human genbank 54_36p +1 validated missense c.2501 p.L834S 0.997 NULL HMMPfam_zf-C2H2,PatternScan_ZINC_FINGER_C2H2_1,HMMSmart_SM00355,superfamily_C2H2 and C2HC zinc fingers - no_errors 1407 3 0.21 233 108 31.67 1 2 66.67 +WAC 0 genome.wustl.edu 37 10 28905292 28905292 + Splice_Site SNP G G A TCGA-AB-3001-03A-01D-0739-09 TCGA-AB-3001-11A-01D-0739-09 G G G A G G Verified Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq 1 dbGAP Illumina HiSeq 1ab338ac-7a1e-4796-9464-d0e3218050ea 89734d2a-e63f-4255-8f4a-223187fa0daf 10 28945298 28945298 G A SNP WAC NM_016628.3 human genbank 54_36p +1 reviewed splice_site c.1746+1 e12+1 1.000 - - - no_errors 746 4 0.53 685 303 30.67 6 1 14.29 +C10orf118 0 genome.wustl.edu 37 10 115904370 115904370 + Silent SNP G G A TCGA-AB-3001-03A-01D-0739-09 TCGA-AB-3001-11A-01D-0739-09 G G G A G G Verified Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq 1 dbGAP Illumina HiSeq 1ab338ac-7a1e-4796-9464-d0e3218050ea 89734d2a-e63f-4255-8f4a-223187fa0daf 10 115894360 115894360 G A SNP C10orf118 NM_018017.2 human genbank 54_36p -1 validated silent c.1107 p.G369 0.950 NULL superfamily_Prefoldin - no_errors 643 8 1.23 92 21 18.58 8 4 33.33 +LUZP2 0 genome.wustl.edu 37 11 24759849 24759849 + Splice_Site SNP G G C TCGA-AB-3001-03A-01D-0739-09 TCGA-AB-3001-11A-01D-0739-09 G G G C G G Verified Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq 1 dbGAP Illumina HiSeq 1ab338ac-7a1e-4796-9464-d0e3218050ea 89734d2a-e63f-4255-8f4a-223187fa0daf 11 24716425 24716425 G C SNP LUZP2 NM_001009909.2 human genbank 54_36p +1 validated splice_site c.333+1 e4+1 0.994 - - - no_errors 1289 5 0.39 1226 256 17.26 NA NA NA +LRIG3 0 genome.wustl.edu 37 12 59279661 59279661 + Missense_Mutation SNP C C T TCGA-AB-3001-03A-01D-0739-09 TCGA-AB-3001-11A-01D-0739-09 C C C T C C Verified Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq 1 dbGAP Illumina HiSeq 1ab338ac-7a1e-4796-9464-d0e3218050ea 89734d2a-e63f-4255-8f4a-223187fa0daf 12 57565928 57565928 C T SNP LRIG3 NM_153377.1 human genbank 54_36p -1 provisional missense c.1196 p.R399H 0.998 HMMPfam_LRR_1,HMMSmart_SM00369,HMMSmart_SM00365,superfamily_RNI-like HMMPfam_LRRCT,HMMSmart_SM00082,HMMPfam_LRR_1,HMMSmart_SM00369,HMMSmart_SM00408,HMMSmart_SM00409,HMMPfam_I-set,HMMSmart_SM00365,superfamily_Immunoglobulin,superfamily_RNI-like - no_errors 798 6 0.75 198 84 29.79 NA NA NA +PRPF8 0 genome.wustl.edu 37 17 1561947 1561947 + Missense_Mutation SNP C C T TCGA-AB-3001-03A-01D-0739-09 TCGA-AB-3001-11A-01D-0739-09 C C C T C C Verified Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq 1 dbGAP Illumina HiSeq 1ab338ac-7a1e-4796-9464-d0e3218050ea 89734d2a-e63f-4255-8f4a-223187fa0daf 17 1508697 1508697 C T SNP PRPF8 NM_006445.3 human genbank 54_36p -1 reviewed missense c.5249 p.G1750E 0.997 NULL HMMPfam_Mov34,HMMSmart_SM00232,HMMPfam_PRO8NT,HMMPfam_PROCN,HMMPfam_PROCT,HMMPfam_U6-snRNA_bdg,HMMPfam_U5_2-snRNA_bdg,HMMPfam_RRM_4 - no_errors 1403 6 0.43 394 95 19.43 294 102 25.76 +LOC100129876 0 genome.wustl.edu 37 X 55198491 55198491 + Silent SNP G G A TCGA-AB-3002-03A-01D-0739-09 TCGA-AB-3002-11A-01D-0739-09 G G G A G G Verified Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq 1 dbGAP Illumina HiSeq 320ebe6f-48bd-40f1-9be5-1401a3bff328 f0b052b2-f9c8-48b4-a333-936b3da6f164 X 55215216 55215216 G A SNP LOC100129876 XM_001715675.1 human genbank 54_36p +1 model silent c.105 p.E35 0.007 NULL HMMPfam_GAGE - no_errors 238 3 1.24 21 146 87.43 NA NA NA +RBMX 0 genome.wustl.edu 37 X 135961574 135961574 + Missense_Mutation SNP C C A TCGA-AB-3002-03A-01D-0739-09 TCGA-AB-3002-11A-01D-0739-09 C C C A C C Verified Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq 1 dbGAP Illumina HiSeq 320ebe6f-48bd-40f1-9be5-1401a3bff328 f0b052b2-f9c8-48b4-a333-936b3da6f164 X 135789240 135789240 C A SNP RBMX NM_002139.2 human genbank 54_36p -1 reviewed missense c.13 p.D5Y 1.000 NULL HMMPfam_RRM_1,HMMSmart_SM00360,HMMSmart_SM00361,HMMPfam_RBM1CTR,superfamily_RNA-binding domain RBD - no_errors 284 8 2.73972602739726 37 240 86.6425992779783 8 143 94.08 +TP73 0 genome.wustl.edu 37 1 3638739 3638739 + Missense_Mutation SNP C C T TCGA-AB-3002-03A-01D-0739-09 TCGA-AB-3002-11A-01D-0739-09 C C C T C C Verified Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq 1 dbGAP Illumina HiSeq 320ebe6f-48bd-40f1-9be5-1401a3bff328 f0b052b2-f9c8-48b4-a333-936b3da6f164 1 3628599 3628599 C T SNP TP73 NM_005427.1 human genbank 54_36p +1 reviewed missense c.584 p.P195L 1.000 superfamily_p53-like transcription factors,HMMPfam_P53 HMMSmart_SM00454,PatternScan_P53,superfamily_p53-like transcription factors,HMMPfam_P53_tetramer,superfamily_p53 tetramerization domain,superfamily_SAM/Pointed domain,HMMPfam_SAM_2,HMMPfam_P53 - no_errors 473 7 1.45833333333333 272 207 43.2150313152401 NA NA NA +GBP4 0 genome.wustl.edu 37 1 89660980 89660980 + Missense_Mutation SNP C C A TCGA-AB-3002-03A-01D-0739-09 TCGA-AB-3002-11A-01D-0739-09 C C C A C C Verified Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq 1 dbGAP Illumina HiSeq 320ebe6f-48bd-40f1-9be5-1401a3bff328 f0b052b2-f9c8-48b4-a333-936b3da6f164 1 89433568 89433568 C A SNP GBP4 NM_052941.4 human genbank 54_36p -1 validated missense c.363 p.K121N 1.000 HMMPfam_GBP,superfamily_SSF52540 HMMPfam_GBP_C,HMMPfam_GBP,superfamily_GBP,superfamily_SSF52540 - no_errors 572 1 0.174520069808028 650 9 1.36570561456753 35 0 0.00 +ARHGEF2 0 genome.wustl.edu 37 1 155922486 155922486 + Silent SNP G G T TCGA-AB-3002-03A-01D-0739-09 TCGA-AB-3002-11A-01D-0739-09 G G G T G G Verified Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq 1 dbGAP Illumina HiSeq 320ebe6f-48bd-40f1-9be5-1401a3bff328 f0b052b2-f9c8-48b4-a333-936b3da6f164 1 154189110 154189110 G T SNP ARHGEF2 NM_004723.2 human genbank 54_36p -1 reviewed silent c.1833 p.G611 0.971 NULL HMMPfam_RhoGEF,HMMSmart_SM00325,superfamily_DBL homology domain (DH-domain),HMMPfam_PH,HMMSmart_SM00233,HMMPfam_C1_1,HMMSmart_SM00109,PatternScan_ZF_DAG_PE_1,superfamily_PH domain-like,superfamily_Cysteine-rich domain - no_errors 558 8 1.41 294 238 44.65 48 57 54.29 +LGTN 0 genome.wustl.edu 37 1 206772865 206772865 + Missense_Mutation SNP T T C TCGA-AB-3002-03A-01D-0739-09 TCGA-AB-3002-11A-01D-0739-09 T T T C T T Verified Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq 1 dbGAP Illumina HiSeq 320ebe6f-48bd-40f1-9be5-1401a3bff328 f0b052b2-f9c8-48b4-a333-936b3da6f164 1 204839488 204839488 T C SNP LGTN NM_006893.2 human genbank 54_36p -1 reviewed missense c.1154 p.Y385C 1.000 superfamily_SWIB/MDM2 domain HMMPfam_SUI1,superfamily_eIF1-like,HMMSmart_SM00359,superfamily_SWIB/MDM2 domain,superfamily_PUA domain-like - no_errors 539 11 2.00 335 305 47.51 47 50 51.55 +DDX1 0 genome.wustl.edu 37 2 15757366 15757366 + Splice_Site SNP A A G TCGA-AB-3002-03A-01D-0739-09 TCGA-AB-3002-11A-01D-0739-09 A A A G A A Verified Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq 1 dbGAP Illumina HiSeq 320ebe6f-48bd-40f1-9be5-1401a3bff328 f0b052b2-f9c8-48b4-a333-936b3da6f164 2 15674817 15674817 A G SNP DDX1 NM_004939.1 human genbank 54_36p +1 reviewed splice_site c.1018-2 e15-2 0.994 - - - no_errors 547 10 1.79533213644524 383 335 46.6573816155989 0 3 100.00 +ATG16L1 0 genome.wustl.edu 37 2 234172658 234172658 + Silent SNP C C T TCGA-AB-3002-03A-01D-0739-09 TCGA-AB-3002-11A-01D-0739-09 C C C T C C Verified Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq 1 dbGAP Illumina HiSeq 320ebe6f-48bd-40f1-9be5-1401a3bff328 f0b052b2-f9c8-48b4-a333-936b3da6f164 2 233837397 233837397 C T SNP ATG16L1 NM_030803.3 human genbank 54_36p +1 validated silent c.336 p.D112 1.000 superfamily_WD40 repeat-like,HMMPfam_ATG16 HMMSmart_SM00320,superfamily_WD40 repeat-like,HMMPfam_ATG16,PatternScan_WD_REPEATS_1,HMMPfam_WD40 - no_errors 637 10 1.54559505409583 366 297 44.7963800904977 29 6 17.14 +HJURP 0 genome.wustl.edu 37 2 234750541 234750541 + Silent SNP G G A TCGA-AB-3002-03A-01D-0739-09 TCGA-AB-3002-11A-01D-0739-09 G G G A G G Verified Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq 1 dbGAP Illumina HiSeq 320ebe6f-48bd-40f1-9be5-1401a3bff328 f0b052b2-f9c8-48b4-a333-936b3da6f164 2 234415280 234415280 G A SNP HJURP NM_018410.3 human genbank 54_36p -1 validated silent c.885 p.S295 0.000 NULL NULL - no_errors 675 4 0.589101620029455 450 331 42.381562099872 15 9 37.50 +FBN2 0 genome.wustl.edu 37 5 127697501 127697501 + Silent SNP G G A TCGA-AB-3002-03A-01D-0739-09 TCGA-AB-3002-11A-01D-0739-09 G G G A G G Verified Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq 1 dbGAP Illumina HiSeq 320ebe6f-48bd-40f1-9be5-1401a3bff328 f0b052b2-f9c8-48b4-a333-936b3da6f164 5 127725400 127725400 G A SNP FBN2 NM_001999.3 human genbank 54_36p -1 reviewed silent c.2469 p.N823 0.992 HMMSmart_SM00179,HMMSmart_SM00181,superfamily_Concanavalin A-like lectins/glucanases,HMMPfam_EGF_CA,PatternScan_EGF_CA,superfamily_EGF/Laminin PatternScan_ASX_HYDROXYL,HMMSmart_SM00179,HMMPfam_TB,superfamily_TB module/8-cys domain,HMMPfam_EGF,HMMSmart_SM00181,superfamily_Concanavalin A-like lectins/glucanases,superfamily_Growth factor receptor domain,PatternScan_EGF_1,PatternScan_EGF_2,HMMPfam_EGF_CA,PatternScan_EGF_CA,superfamily_EGF/Laminin - no_errors 1154 9 0.773860705073087 640 498 43.7609841827768 2 0 0.00 +PCDHA13 0 genome.wustl.edu 37 5 140263026 140263026 + Silent SNP G G A TCGA-AB-3002-03A-01D-0739-09 TCGA-AB-3002-11A-01D-0739-09 G G G A G G Verified Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq 1 dbGAP Illumina HiSeq 320ebe6f-48bd-40f1-9be5-1401a3bff328 f0b052b2-f9c8-48b4-a333-936b3da6f164 5 140243210 140243210 G A SNP PCDHA13 NM_018904.2 human genbank 54_36p +1 reviewed silent c.1173 p.P391 0.000 HMMPfam_Cadherin,HMMSmart_SM00112,superfamily_Cadherin-like HMMPfam_Cadherin,HMMSmart_SM00112,PatternScan_CADHERIN_1,HMMPfam_Cadherin_2,superfamily_Cadherin-like - no_errors 758 11 1.43042912873862 446 379 45.9393939393939 NA NA NA +PCDHGC4 0 genome.wustl.edu 37 5 140866094 140866094 + Missense_Mutation SNP C C G TCGA-AB-3002-03A-01D-0739-09 TCGA-AB-3002-11A-01D-0739-09 C C C G C C Verified Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq 1 dbGAP Illumina HiSeq 320ebe6f-48bd-40f1-9be5-1401a3bff328 f0b052b2-f9c8-48b4-a333-936b3da6f164 5 140846278 140846278 C G SNP PCDHGC4 NM_018928.2 human genbank 54_36p +1 reviewed missense c.1354 p.P452A 0.999 HMMSmart_SM00112,PatternScan_CADHERIN_1,superfamily_Cadherin-like HMMPfam_Cadherin,HMMSmart_SM00112,PatternScan_CADHERIN_1,HMMPfam_Cadherin_2,superfamily_Cadherin-like - no_errors 930 15 1.58730158730159 540 360 40 12 13 52.00 +DDX41 0 genome.wustl.edu 37 5 176940353 176940353 + Splice_Site SNP C C T TCGA-AB-3002-03A-01D-0739-09 TCGA-AB-3002-11A-01D-0739-09 C C C T C C Verified Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq 1 dbGAP Illumina HiSeq 320ebe6f-48bd-40f1-9be5-1401a3bff328 f0b052b2-f9c8-48b4-a333-936b3da6f164 5 176872959 176872959 C T SNP DDX41 NM_016222.2 human genbank 54_36p -1 reviewed splice_site c.1230+1 e11+1 1.000 - - - no_errors 675 3 0.442477876106195 556 149 21.1347517730496 8 3 27.27 +EZR 0 genome.wustl.edu 37 6 159188046 159188046 + Missense_Mutation SNP T T C TCGA-AB-3002-03A-01D-0739-09 TCGA-AB-3002-11A-01D-0739-09 T T T C T T Verified Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq 1 dbGAP Illumina HiSeq 320ebe6f-48bd-40f1-9be5-1401a3bff328 f0b052b2-f9c8-48b4-a333-936b3da6f164 6 159108034 159108034 T C SNP EZR NM_003379.1 human genbank 54_36p -1 reviewed missense c.1661 p.H554R 1.000 superfamily_Moesin,HMMPfam_ERM superfamily_Moesin,HMMPfam_ERM,HMMPfam_FERM_N,HMMPfam_FERM_C,PatternScan_FERM_1,PatternScan_FERM_2,HMMPfam_FERM_M,superfamily_FERM_3-hlx,HMMSmart_B41,superfamily_SSF50729,superfamily_SSF54236 - no_errors 687 5 0.72 558 443 44.21 72 58 44.62 +RP1L1 0 genome.wustl.edu 37 8 10469265 10469265 + Silent SNP G G A TCGA-AB-3002-03A-01D-0739-09 TCGA-AB-3002-11A-01D-0739-09 G G G A G G Verified Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq 1 dbGAP Illumina HiSeq 320ebe6f-48bd-40f1-9be5-1401a3bff328 f0b052b2-f9c8-48b4-a333-936b3da6f164 8 10506675 10506675 G A SNP RP1L1 NM_178857.5 human genbank 54_36p -1 validated silent c.2343 p.S781 0.026 NULL HMMPfam_DCX,HMMPfam_S-antigen,superfamily_SSF89837 - no_errors 338 4 1.16959064327485 187 146 43.8438438438438 NA NA NA +RP1 0 genome.wustl.edu 37 8 55537655 55537655 + Missense_Mutation SNP G G A TCGA-AB-3002-03A-01D-0739-09 TCGA-AB-3002-11A-01D-0739-09 G G G A G G Verified Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq 1 dbGAP Illumina HiSeq 320ebe6f-48bd-40f1-9be5-1401a3bff328 f0b052b2-f9c8-48b4-a333-936b3da6f164 8 55700208 55700208 G A SNP RP1 ENST00000220676 human ensembl 54_36p +1 known missense c.1213 p.A405T 0.000 NULL HMMPfam_DCX,HMMSmart_DCX,superfamily_SSF89837 - no_errors 688 11 1.57367668097282 489 376 43.4682080924855 NA NA NA +CNTLN 0 genome.wustl.edu 37 9 17226283 17226283 + Nonsense_Mutation SNP C C T TCGA-AB-3002-03A-01D-0739-09 TCGA-AB-3002-11A-01D-0739-09 C C C T C C Verified Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq 1 dbGAP Illumina HiSeq 320ebe6f-48bd-40f1-9be5-1401a3bff328 f0b052b2-f9c8-48b4-a333-936b3da6f164 9 17216283 17216283 C T SNP CNTLN NM_017738.1 human genbank 54_36p +1 validated nonsense c.532 p.Q178* 1.000 superfamily_Prefoldin superfamily_Prefoldin - no_errors 386 6 1.53061224489796 257 226 46.7908902691511 6 9 60.00 +LOC100129901 0 genome.wustl.edu 37 9 88379624 88379624 + Missense_Mutation SNP C C T TCGA-AB-3002-03A-01D-0739-09 TCGA-AB-3002-11A-01D-0739-09 C C C T C C Verified Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq 1 dbGAP Illumina HiSeq 320ebe6f-48bd-40f1-9be5-1401a3bff328 f0b052b2-f9c8-48b4-a333-936b3da6f164 9 87569444 87569444 C T SNP LOC100129901 XM_001716099.1 human genbank 54_36p +1 model missense c.128 p.A43V 0.997 NULL NULL - no_errors 460 11 2.33545647558386 275 214 43.7627811860941 1 0 0.00 +COL27A1 0 genome.wustl.edu 37 9 117044566 117044566 + Missense_Mutation SNP G G A TCGA-AB-3002-03A-01D-0739-09 TCGA-AB-3002-11A-01D-0739-09 G G G A G G Verified Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq 1 dbGAP Illumina HiSeq 320ebe6f-48bd-40f1-9be5-1401a3bff328 f0b052b2-f9c8-48b4-a333-936b3da6f164 9 116084387 116084387 G A SNP COL27A1 NM_032888.2 human genbank 54_36p +1 provisional missense c.3727 p.G1243R 1.000 HMMPfam_Collagen HMMPfam_COLFI,HMMSmart_SM00038,HMMSmart_SM00210,HMMPfam_Collagen,superfamily_Concanavalin A-like lectins/glucanases - no_errors 429 6 1.37931034482759 285 196 40.7484407484408 NA NA NA +OR1J2 0 genome.wustl.edu 37 9 125273138 125273138 + Missense_Mutation SNP C C T TCGA-AB-3002-03A-01D-0739-09 TCGA-AB-3002-11A-01D-0739-09 C C C T C C Verified Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq 1 dbGAP Illumina HiSeq 320ebe6f-48bd-40f1-9be5-1401a3bff328 f0b052b2-f9c8-48b4-a333-936b3da6f164 9 124312959 124312959 C T SNP OR1J2 NM_054107.1 human genbank 54_36p +1 provisional missense c.58 p.R20W 0.002 superfamily_Family A G protein-coupled receptor-like HMMPfam_7tm_1,PatternScan_G_PROTEIN_RECEP_F1_1,superfamily_Family A G protein-coupled receptor-like - no_errors 891 8 0.89 608 449 42.40 NA NA NA +P2RY2 0 genome.wustl.edu 37 11 72945596 72945596 + Missense_Mutation SNP G G T TCGA-AB-3002-03A-01D-0739-09 TCGA-AB-3002-11A-01D-0739-09 G G G T G G Verified Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq 1 dbGAP Illumina HiSeq 320ebe6f-48bd-40f1-9be5-1401a3bff328 f0b052b2-f9c8-48b4-a333-936b3da6f164 11 72623244 72623244 G T SNP P2RY2 NM_002564.2 human genbank 54_36p +1 reviewed missense c.392 p.R131L 1.000 HMMPfam_7tm_1,PatternScan_G_PROTEIN_RECEP_F1_1,superfamily_Family A G protein-coupled receptor-like HMMPfam_7tm_1,PatternScan_G_PROTEIN_RECEP_F1_1,superfamily_Family A G protein-coupled receptor-like - no_errors 798 3 0.37 278 242 46.54 5 6 54.55 +DRD2 0 genome.wustl.edu 37 11 113283325 113283325 + Missense_Mutation SNP G G A TCGA-AB-3002-03A-01D-0739-09 TCGA-AB-3002-11A-01D-0739-09 G G G A G G Verified Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq 1 dbGAP Illumina HiSeq 320ebe6f-48bd-40f1-9be5-1401a3bff328 f0b052b2-f9c8-48b4-a333-936b3da6f164 11 112788535 112788535 G A SNP DRD2 NM_000795.3 human genbank 54_36p -1 reviewed missense c.1091 p.S364F 1.000 HMMPfam_7tm_1,superfamily_Family A G protein-coupled receptor-like HMMPfam_7tm_1,PatternScan_G_PROTEIN_RECEP_F1_1,superfamily_Family A G protein-coupled receptor-like - no_errors 661 8 1.19581464872945 483 353 42.2248803827751 NA NA NA +DAZAP2 0 genome.wustl.edu 37 12 51636172 51636172 + Missense_Mutation SNP A A G TCGA-AB-3002-03A-01D-0739-09 TCGA-AB-3002-11A-01D-0739-09 A A A G A A Verified Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq 1 dbGAP Illumina HiSeq 320ebe6f-48bd-40f1-9be5-1401a3bff328 f0b052b2-f9c8-48b4-a333-936b3da6f164 12 49922439 49922439 A G SNP DAZAP2 NM_014764.1 human genbank 54_36p +1 reviewed missense c.437 p.N146S 1.000 NULL NULL - no_errors 1029 5 0.48 505 419 45.35 202 152 42.94 +TMEM132C 0 genome.wustl.edu 37 12 129178490 129178490 + Nonsense_Mutation SNP G G A TCGA-AB-3002-03A-01D-0739-09 TCGA-AB-3002-11A-01D-0739-09 G G G A G G Verified Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq 1 dbGAP Illumina HiSeq 320ebe6f-48bd-40f1-9be5-1401a3bff328 f0b052b2-f9c8-48b4-a333-936b3da6f164 12 127744443 127744443 G A SNP TMEM132C ENST00000315208 human ensembl 54_36p +1 known nonsense c.414 p.W138* 1.000 NULL NULL - no_errors 523 4 0.76 352 237 40.24 NA NA NA +DCLK1 0 genome.wustl.edu 37 13 36428695 36428695 + Missense_Mutation SNP G G A TCGA-AB-3002-03A-01D-0739-09 TCGA-AB-3002-11A-01D-0739-09 G G G A G G Verified Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq 1 dbGAP Illumina HiSeq 320ebe6f-48bd-40f1-9be5-1401a3bff328 f0b052b2-f9c8-48b4-a333-936b3da6f164 13 35326695 35326695 G A SNP DCLK1 NM_004734.3 human genbank 54_36p -1 validated missense c.976 p.R326C 0.998 NULL HMMSmart_S_TKc,HMMPfam_DCX,HMMSmart_DCX,PatternScan_PROTEIN_KINASE_ST,superfamily_Kinase_like,PatternScan_PROTEIN_KINASE_ATP,HMMPfam_Pkinase,superfamily_SSF89837 - no_errors 399 0 0 537 3 0.555555555555556 2 0 0.00 +IDH2 0 genome.wustl.edu 37 15 90631934 90631934 + Missense_Mutation SNP C C A rs121913502 TCGA-AB-3002-03A-01D-0739-09 TCGA-AB-3002-11A-01D-0739-09 C C C A C C Verified Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq 1 dbGAP Illumina HiSeq 320ebe6f-48bd-40f1-9be5-1401a3bff328 f0b052b2-f9c8-48b4-a333-936b3da6f164 15 88432938 88432938 C A SNP IDH2 NM_002168.2 human genbank 54_36p -1 reviewed missense c.419 p.R140L 1.000 HMMPfam_Iso_dh,superfamily_Isocitrate/Isopropylmalate dehydrogenase-like HMMPfam_Iso_dh,PatternScan_IDH_IMDH,superfamily_Isocitrate/Isopropylmalate dehydrogenase-like - no_errors 740 12 1.59574468085106 381 307 44.6220930232558 155 138 47.10 +ITGAX 0 genome.wustl.edu 37 16 31382998 31382998 + Missense_Mutation SNP C C T TCGA-AB-3002-03A-01D-0739-09 TCGA-AB-3002-11A-01D-0739-09 C C C T C C Verified Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq 1 dbGAP Illumina HiSeq 320ebe6f-48bd-40f1-9be5-1401a3bff328 f0b052b2-f9c8-48b4-a333-936b3da6f164 16 31290499 31290499 C T SNP ITGAX NM_000887.3 human genbank 54_36p +1 reviewed missense c.2053 p.R685C 1.000 HMMPfam_Integrin_alpha2,superfamily_SSF69179 HMMPfam_VWA,HMMSmart_VWA,HMMPfam_Integrin_alpha,HMMPfam_FG-GAP,HMMSmart_Int_alpha,HMMPfam_Integrin_alpha2,PatternScan_INTEGRIN_ALPHA,superfamily_SSF53300,superfamily_SSF69179,superfamily_SSF69318 - no_errors 952 28 2.85 283 236 45.30 16 25 60.98 +MIR632 0 genome.wustl.edu 37 17 30677169 30677169 + RNA SNP C C A TCGA-AB-3002-03A-01D-0739-09 TCGA-AB-3002-11A-01D-0739-09 C C C A C C Verified Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq 1 dbGAP Illumina HiSeq 320ebe6f-48bd-40f1-9be5-1401a3bff328 f0b052b2-f9c8-48b4-a333-936b3da6f164 17 27701282 27701282 C A SNP MIRN632 ENST00000385193 human ensembl 54_36p +1 known rna NULL NULL 0.749 - - - no_errors 320 0 0 361 5 1.36612021857923 15 0 0.00 +MIR142 0 genome.wustl.edu 37 17 56408622 56408622 + RNA SNP C C G TCGA-AB-3002-03A-01D-0739-09 TCGA-AB-3002-11A-01D-0739-09 C C C G C C Verified Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq 1 dbGAP Illumina HiSeq 320ebe6f-48bd-40f1-9be5-1401a3bff328 f0b052b2-f9c8-48b4-a333-936b3da6f164 17 53763621 53763621 C G SNP MIRN142 ENST00000384835 human ensembl 54_36p -1 known rna NULL NULL 1.000 - - - no_errors 1707 17 0.98 169 138 44.95 29 4 11.76 +MIR142 0 genome.wustl.edu 37 17 56408625 56408625 + RNA SNP T T C TCGA-AB-3002-03A-01D-0739-09 TCGA-AB-3002-11A-01D-0739-09 T T T C T T Verified Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq 1 dbGAP Illumina HiSeq 320ebe6f-48bd-40f1-9be5-1401a3bff328 f0b052b2-f9c8-48b4-a333-936b3da6f164 17 53763624 53763624 T C SNP MIRN142 ENST00000384835 human ensembl 54_36p -1 known rna NULL NULL 1.000 - - - no_errors 1692 14 0.82 181 121 40.07 5 25 83.33 +MYO1F 0 genome.wustl.edu 37 19 8606789 8606789 + Splice_Site SNP C C T TCGA-AB-3002-03A-01D-0739-09 TCGA-AB-3002-11A-01D-0739-09 C C C T C C Verified Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq 1 dbGAP Illumina HiSeq 320ebe6f-48bd-40f1-9be5-1401a3bff328 f0b052b2-f9c8-48b4-a333-936b3da6f164 19 8512789 8512789 C T SNP MYO1F NM_012335.2 human genbank 54_36p -1 provisional splice_site c.1610+1 e15+1 1.000 - - - no_errors 542 8 1.45454545454545 319 257 44.6180555555556 18 11 36.67 +ZNF260 0 genome.wustl.edu 37 19 37005057 37005057 + Missense_Mutation SNP A A G TCGA-AB-3002-03A-01D-0739-09 TCGA-AB-3002-11A-01D-0739-09 A A A G A A Verified Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq 1 dbGAP Illumina HiSeq 320ebe6f-48bd-40f1-9be5-1401a3bff328 f0b052b2-f9c8-48b4-a333-936b3da6f164 19 41696897 41696897 A G SNP ZNF260 NM_001012756.1 human genbank 54_36p -1 validated missense c.1084 p.C362R 0.744 HMMPfam_zf-C2H2,PatternScan_ZINC_FINGER_C2H2_1,HMMSmart_ZnF_C2H2,superfamily_SSF57667 HMMPfam_zf-C2H2,PatternScan_ZINC_FINGER_C2H2_1,HMMSmart_ZnF_C2H2,superfamily_SSF57667 - no_errors 501 0 0 582 7 1.18845500848896 8 0 0.00 +LOC388553 0 genome.wustl.edu 37 19 46266611 46266611 + Silent SNP C C T TCGA-AB-3002-03A-01D-0739-09 TCGA-AB-3002-11A-01D-0739-09 C C C T C C Verified Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq 1 dbGAP Illumina HiSeq 320ebe6f-48bd-40f1-9be5-1401a3bff328 f0b052b2-f9c8-48b4-a333-936b3da6f164 19 50958451 50958451 C T SNP LOC388553 XM_373809.1 human genbank 54_36p +1 model silent c.1554 p.T518 0.395 HMMPfam_HMG_box,HMMSmart_SM00398,superfamily_HMG-box HMMPfam_HMG_box,HMMSmart_SM00398,HMMPfam_HLH,superfamily_HMG-box - no_errors 395 2 0.503778337531486 222 203 47.7647058823529 NA NA NA +NCR1 0 genome.wustl.edu 37 19 55418014 55418014 + Silent SNP C C T TCGA-AB-3002-03A-01D-0739-09 TCGA-AB-3002-11A-01D-0739-09 C C C T C C Verified Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq 1 dbGAP Illumina HiSeq 320ebe6f-48bd-40f1-9be5-1401a3bff328 f0b052b2-f9c8-48b4-a333-936b3da6f164 19 60109826 60109826 C T SNP NCR1 NM_004829.1 human genbank 54_36p +1 validated silent c.204 p.A68 0.000 HMMSmart_SM00409,superfamily_Immunoglobulin HMMSmart_SM00409,superfamily_Immunoglobulin - no_errors 723 0 0 821 10 1.20336943441637 1 0 0.00 +KCNQ2 0 genome.wustl.edu 37 20 62044802 62044802 + Splice_Site SNP C C T TCGA-AB-3002-03A-01D-0739-09 TCGA-AB-3002-11A-01D-0739-09 C C C T C C Verified Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq 1 dbGAP Illumina HiSeq 320ebe6f-48bd-40f1-9be5-1401a3bff328 f0b052b2-f9c8-48b4-a333-936b3da6f164 20 61515246 61515246 C T SNP KCNQ2 NM_172107.4 human genbank 54_36p -1 reviewed splice_site c.1763+1 e15+1 1.000 - - - no_errors 251 9 3.46153846153846 132 117 46.9879518072289 0 0 0.00 +LOC441957 0 genome.wustl.edu 37 21 15137012 15137012 + RNA SNP C C T TCGA-AB-3002-03A-01D-0739-09 TCGA-AB-3002-11A-01D-0739-09 C C C T C C Verified Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq 1 dbGAP Illumina HiSeq 320ebe6f-48bd-40f1-9be5-1401a3bff328 f0b052b2-f9c8-48b4-a333-936b3da6f164 21 14058883 14058883 C T SNP LOC441957 XR_016199.1 human genbank 54_36p +1 model rna NULL NULL 0.375 - - - pseudogene 341 6 1.72910662824208 230 182 44.1747572815534 0 0 0.00 +NRK 0 genome.wustl.edu 37 X 105178382 105178382 + Missense_Mutation SNP T T C TCGA-AB-3005-03A-01D-0739-09 TCGA-AB-3005-11A-01D-0739-09 T T T C T T Verified Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq 1 dbGAP Illumina HiSeq 85335b80-6d61-4344-8ab3-1cf4be2ee53f f02e1039-61d1-460f-a731-91d178483835 X 105065038 105065038 T C SNP NRK ENST00000243300 human ensembl 54_36p +1 known missense c.3448 p.S1150P 0.982 NULL HMMPfam_CNH,HMMSmart_SM00036,HMMSmart_SM00219,HMMSmart_SM00220,PatternScan_PROTEIN_KINASE_ST,superfamily_p53-like transcription factors,superfamily_Protein kinase-like (PK-like),PatternScan_PROTEIN_KINASE_ATP,HMMPfam_Pkinase - no_errors 776 1 0.13 425 65 13.24 NA NA NA +LRRC47 0 genome.wustl.edu 37 1 3700618 3700618 + Silent SNP G G A TCGA-AB-3005-03A-01D-0739-09 TCGA-AB-3005-11A-01D-0739-09 G G G A G G Verified Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq 1 dbGAP Illumina HiSeq 85335b80-6d61-4344-8ab3-1cf4be2ee53f f02e1039-61d1-460f-a731-91d178483835 1 3690478 3690478 G A SNP LRRC47 NM_020710.2 human genbank 54_36p -1 validated silent c.1252 p.L418 0.603 HMMPfam_B3_4 HMMPfam_LRR_1,HMMSmart_LRR_TYP,HMMPfam_B3_4,superfamily_SSF52047 - no_errors 345 0 0.00 59 68 53.12 22 18 40.00 +NOTCH2NL 0 genome.wustl.edu 37 1 145273366 145273366 + Nonsense_Mutation SNP C C T TCGA-AB-3005-03A-01D-0739-09 TCGA-AB-3005-11A-01D-0739-09 C C C T C C Verified Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq 1 dbGAP Illumina HiSeq 85335b80-6d61-4344-8ab3-1cf4be2ee53f f02e1039-61d1-460f-a731-91d178483835 1 143984723 143984723 C T SNP NOTCH2NL NM_203458.3 human genbank 54_36p +1 validated nonsense c.220 p.R74* 0.852 HMMSmart_SM00179,HMMPfam_EGF,HMMSmart_SM00181,superfamily_EGF/Laminin PatternScan_ASX_HYDROXYL,HMMSmart_SM00179,HMMPfam_EGF,HMMSmart_SM00181,PatternScan_EGF_1,PatternScan_EGF_2,HMMPfam_EGF_CA,PatternScan_EGF_CA,superfamily_EGF/Laminin - no_errors 5403 5 0.09 3924 650 14.20 66 15 18.52 +ATP6V1G3 0 genome.wustl.edu 37 1 198509740 198509740 + Missense_Mutation SNP G G A TCGA-AB-3005-03A-01D-0739-09 TCGA-AB-3005-11A-01D-0739-09 G G G A G G Verified Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq 1 dbGAP Illumina HiSeq 85335b80-6d61-4344-8ab3-1cf4be2ee53f f02e1039-61d1-460f-a731-91d178483835 1 196776363 196776363 G A SNP ATP6V1G3 NM_133262.2 human genbank 54_36p -1 reviewed missense c.41 p.A14V 1.000 HMMPfam_V-ATPase_G HMMPfam_V-ATPase_G - no_errors 1583 2 0.13 603 380 38.62 NA NA NA +LOC200493 0 genome.wustl.edu 37 2 883813 883813 + Missense_Mutation SNP C C G TCGA-AB-3005-03A-01D-0739-09 TCGA-AB-3005-11A-01D-0739-09 C C C G C C Verified Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq 1 dbGAP Illumina HiSeq 85335b80-6d61-4344-8ab3-1cf4be2ee53f f02e1039-61d1-460f-a731-91d178483835 2 873813 873813 C G SNP LOC200493 XM_115715.5 human genbank 54_36p -1 model missense c.458 p.W153S 0.011 NULL NULL - no_start_codon:pseudogene:no_stop_codon 2319 0 0.00 409 304 42.46 NA NA NA +LOC643905 0 genome.wustl.edu 37 2 240982243 240982243 + Missense_Mutation SNP G G A TCGA-AB-3005-03A-01D-0739-09 TCGA-AB-3005-11A-01D-0739-09 G G G A G G Verified Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq 1 dbGAP Illumina HiSeq 85335b80-6d61-4344-8ab3-1cf4be2ee53f f02e1039-61d1-460f-a731-91d178483835 2 240630916 240630916 G A SNP LOC643905 NM_001080835.1 human genbank 54_36p -1 predicted missense c.157 p.R53W 0.003 NULL NULL - no_errors 4899 3 0.06 4376 670 13.27 NA NA NA +CELSR3 0 genome.wustl.edu 37 3 48694471 48694471 + Silent SNP C C T TCGA-AB-3005-03A-01D-0739-09 TCGA-AB-3005-11A-01D-0739-09 C C C T C C Verified Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq 1 dbGAP Illumina HiSeq 85335b80-6d61-4344-8ab3-1cf4be2ee53f f02e1039-61d1-460f-a731-91d178483835 3 48669475 48669475 C T SNP CELSR3 NM_001407.2 human genbank 54_36p -1 reviewed silent c.4059 p.Q1353 1.000 NULL PatternScan_ASX_HYDROXYL,HMMPfam_GPS,HMMSmart_SM00303,HMMPfam_7tm_2,HMMSmart_SM00282,HMMPfam_HRM,HMMSmart_SM00008,HMMSmart_SM00179,HMMPfam_Laminin_EGF,HMMSmart_SM00180,PatternScan_EGF_LAM_1,HMMPfam_Cadherin,HMMSmart_SM00112,PatternScan_CADHERIN_1,HMMPfam_EGF,HMMSmart_SM00181,superfamily_Concanavalin A-like lectins/glucanases,HMMPfam_Laminin_G_2,PatternScan_EGF_1,PatternScan_EGF_2,superfamily_Cadherin-like,PatternScan_G_PROTEIN_RECEP_F2_2,superfamily_EGF/Laminin - no_errors 819 1 0.12 162 148 47.59 7 1 12.50 +PCDHGA3 0 genome.wustl.edu 37 5 140724205 140724205 + Missense_Mutation SNP G G A TCGA-AB-3005-03A-01D-0739-09 TCGA-AB-3005-11A-01D-0739-09 G G G A G G Verified Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq 1 dbGAP Illumina HiSeq 85335b80-6d61-4344-8ab3-1cf4be2ee53f f02e1039-61d1-460f-a731-91d178483835 5 140704389 140704389 G A SNP PCDHGA3 NM_018916.3 human genbank 54_36p +1 reviewed missense c.605 p.R202H 0.968 HMMPfam_Cadherin,HMMSmart_SM00112,superfamily_Cadherin-like HMMPfam_Cadherin,HMMSmart_SM00112,PatternScan_CADHERIN_1,HMMPfam_Cadherin_2,superfamily_Cadherin-like - no_errors 1100 3 0.27 276 100 26.60 NA NA NA +MDFI 0 genome.wustl.edu 37 6 41621216 41621216 + Missense_Mutation SNP C C A TCGA-AB-3005-03A-01D-0739-09 TCGA-AB-3005-11A-01D-0739-09 C C C A C C Verified Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq 1 dbGAP Illumina HiSeq 85335b80-6d61-4344-8ab3-1cf4be2ee53f f02e1039-61d1-460f-a731-91d178483835 6 41729194 41729194 C A SNP MDFI NM_005586.3 human genbank 54_36p +1 reviewed missense c.644 p.P215H 1.000 NULL PatternScan_TNFR_NGFR_1 - no_errors 1362 3 0.22 297 198 40.00 NA NA NA +GRIK2 0 genome.wustl.edu 37 6 102511871 102511871 + Missense_Mutation SNP C C T TCGA-AB-3005-03A-01D-0739-09 TCGA-AB-3005-11A-01D-0739-09 C C C T C C Verified Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq 1 dbGAP Illumina HiSeq 85335b80-6d61-4344-8ab3-1cf4be2ee53f f02e1039-61d1-460f-a731-91d178483835 6 102618564 102618564 C T SNP GRIK2 NM_175768.3 human genbank 54_36p +1 reviewed missense c.2597 p.P866L 1.000 NULL HMMPfam_Lig_chan,HMMSmart_PBPe,HMMPfam_ANF_receptor,HMMPfam_Lig_chan-Glu_bd,superfamily_SSF53822,superfamily_SSF53850 - no_errors 1077 1 0.09 88 66 42.58 NA NA NA +FNDC1 0 genome.wustl.edu 37 6 159653543 159653543 + Missense_Mutation SNP C C T TCGA-AB-3005-03A-01D-0739-09 TCGA-AB-3005-11A-01D-0739-09 C C C T C C Verified Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq 1 dbGAP Illumina HiSeq 85335b80-6d61-4344-8ab3-1cf4be2ee53f f02e1039-61d1-460f-a731-91d178483835 6 159573533 159573533 C T SNP FNDC1 NM_032532.2 human genbank 54_36p +1 validated missense c.1999 p.R667W 0.002 NULL HMMPfam_fn3,HMMSmart_FN3,superfamily_FN_III-like - no_errors 277 1 0.36 103 124 53.91 NA NA NA +MAGI2 0 genome.wustl.edu 37 7 77649085 77649085 + Silent SNP C C T TCGA-AB-3005-03A-01D-0739-09 TCGA-AB-3005-11A-01D-0739-09 C C C T C C Verified Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq 1 dbGAP Illumina HiSeq 85335b80-6d61-4344-8ab3-1cf4be2ee53f f02e1039-61d1-460f-a731-91d178483835 7 77487021 77487021 C T SNP MAGI2 NM_012301.3 human genbank 54_36p -1 reviewed silent c.3915 p.Q1305 1.000 NULL HMMPfam_WW,HMMSmart_SM00456,PatternScan_WW_DOMAIN_1,superfamily_WW domain,HMMPfam_PDZ,HMMSmart_SM00228,superfamily_PDZ domain-like,HMMPfam_Guanylate_kin,HMMSmart_SM00072,PatternScan_GUANYLATE_KINASE_1,superfamily_P-loop containing nucleoside triphosphate hydrolases - no_errors 286 0 0.00 57 65 53.28 NA NA NA +PARD3 0 genome.wustl.edu 37 10 34400214 34400214 + Missense_Mutation SNP G G T TCGA-AB-3005-03A-01D-0739-09 TCGA-AB-3005-11A-01D-0739-09 G G G T G G Verified Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq 1 dbGAP Illumina HiSeq 85335b80-6d61-4344-8ab3-1cf4be2ee53f f02e1039-61d1-460f-a731-91d178483835 10 34440220 34440220 G T SNP PARD3 NM_019619.2 human genbank 54_36p -1 provisional missense c.3954 p.D1318E 1.000 NULL HMMPfam_PDZ,HMMSmart_SM00228,superfamily_PDZ domain-like - no_errors 581 0 0.00 169 130 43.48 NA NA NA +IGHMBP2 0 genome.wustl.edu 37 11 68704310 68704310 + Nonsense_Mutation SNP C C T TCGA-AB-3005-03A-01D-0739-09 TCGA-AB-3005-11A-01D-0739-09 C C C T C C Verified Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq 1 dbGAP Illumina HiSeq 85335b80-6d61-4344-8ab3-1cf4be2ee53f f02e1039-61d1-460f-a731-91d178483835 11 68460886 68460886 C T SNP IGHMBP2 NM_002180.2 human genbank 54_36p +1 reviewed nonsense c.2362 p.R788* 0.000 NULL HMMSmart_SM00154,HMMPfam_R3H,HMMSmart_SM00393,HMMSmart_SM00382,HMMSmart_SM00487,superfamily_P-loop containing nucleoside triphosphate hydrolases,superfamily_R3H domain - no_errors 470 0 0.00 109 98 47.34 7 3 30.00 +SELPLG 0 genome.wustl.edu 37 12 109017680 109017680 + Missense_Mutation SNP T T G TCGA-AB-3005-03A-01D-0739-09 TCGA-AB-3005-11A-01D-0739-09 T T T G T T Verified Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq 1 dbGAP Illumina HiSeq 85335b80-6d61-4344-8ab3-1cf4be2ee53f f02e1039-61d1-460f-a731-91d178483835 12 107541809 107541809 T G SNP SELPLG ENST00000228463 human ensembl 54_36p -1 known missense c.404 p.Q135P 0.000 NULL NULL - no_errors 5024 15 0.30 1323 340 20.35 80 6 6.98 +TBC1D4 0 genome.wustl.edu 37 13 75930309 75930309 + Missense_Mutation SNP C C T TCGA-AB-3005-03A-01D-0739-09 TCGA-AB-3005-11A-01D-0739-09 C C C T C C Verified Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq 1 dbGAP Illumina HiSeq 85335b80-6d61-4344-8ab3-1cf4be2ee53f f02e1039-61d1-460f-a731-91d178483835 13 74828310 74828310 C T SNP TBC1D4 NM_014832.2 human genbank 54_36p -1 validated missense c.1249 p.V417I 1.000 HMMPfam_PID,HMMSmart_SM00462,superfamily_PH domain-like HMMPfam_TBC,HMMSmart_SM00164,superfamily_Ypt/Rab-GAP domain of gyp1p,HMMPfam_PID,HMMSmart_SM00462,superfamily_PH domain-like - no_errors 3311 2 0.06 604 345 36.35 0 1 100.00 +FAM70B 0 genome.wustl.edu 37 13 114507886 114507886 + Missense_Mutation SNP G G A TCGA-AB-3005-03A-01D-0739-09 TCGA-AB-3005-11A-01D-0739-09 G G G A G G Verified Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq 1 dbGAP Illumina HiSeq 85335b80-6d61-4344-8ab3-1cf4be2ee53f f02e1039-61d1-460f-a731-91d178483835 13 113606057 113606057 G A SNP FAM70B NM_182614.2 human genbank 54_36p -1 provisional missense c.698 p.P233L 0.868 NULL NULL - no_errors 219 0 0.00 73 78 51.66 0 0 0.00 +ENSG00000209508 0 genome.wustl.edu 37 16 3417714 3417714 + RNA SNP G G A TCGA-AB-3005-03A-01D-0739-09 TCGA-AB-3005-11A-01D-0739-09 G G G A G G Verified Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq 1 dbGAP Illumina HiSeq 85335b80-6d61-4344-8ab3-1cf4be2ee53f f02e1039-61d1-460f-a731-91d178483835 16 3357715 3357715 G A SNP ENSG00000209508 ENST00000386773 human ensembl 54_36p +1 novel rna NULL NULL 0.998 - - - pseudogene 856 0 0.00 219 129 36.96 1 0 0.00 +SLC25A11 0 genome.wustl.edu 37 17 4843185 4843185 + Silent SNP G G C TCGA-AB-3005-03A-01D-0739-09 TCGA-AB-3005-11A-01D-0739-09 G G G C G G Verified Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq 1 dbGAP Illumina HiSeq 85335b80-6d61-4344-8ab3-1cf4be2ee53f f02e1039-61d1-460f-a731-91d178483835 17 4783930 4783930 G C SNP SLC25A11 NM_003562.3 human genbank 54_36p -1 provisional silent c.21 p.A7 0.997 NULL superfamily_Mitochondrial carrier,HMMPfam_Mito_carr - no_errors 264 2 0.75 22 16 42.11 25 16 39.02 +CAPS 0 genome.wustl.edu 37 19 5914448 5914448 + Missense_Mutation SNP C C G TCGA-AB-3005-03A-01D-0739-09 TCGA-AB-3005-11A-01D-0739-09 C C C G C C Verified Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq 1 dbGAP Illumina HiSeq 85335b80-6d61-4344-8ab3-1cf4be2ee53f f02e1039-61d1-460f-a731-91d178483835 19 5865448 5865448 C G SNP CAPS NM_004058.3 human genbank 54_36p +1 validated missense c.31 p.L11V 1.000 superfamily_SSF47473 HMMSmart_EFh,PatternScan_EF_HAND_1,HMMPfam_efhand,superfamily_SSF47473 - no_errors 255 2 0.77 72 35 32.71 8 5 38.46 +ELL 0 genome.wustl.edu 37 19 18561476 18561476 + Missense_Mutation SNP C C T TCGA-AB-3005-03A-01D-0739-09 TCGA-AB-3005-11A-01D-0739-09 C C C T C C Verified Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq 1 dbGAP Illumina HiSeq 85335b80-6d61-4344-8ab3-1cf4be2ee53f f02e1039-61d1-460f-a731-91d178483835 19 18422476 18422476 C T SNP ELL NM_006532.2 human genbank 54_36p -1 validated missense c.1276 p.G426S 0.270 NULL HMMPfam_Occludin_ELL,HMMPfam_ELL - no_errors 90 0 0.00 20 21 51.22 7 2 22.22 +SON 0 genome.wustl.edu 37 21 34924607 34924607 + Missense_Mutation SNP A A G TCGA-AB-3005-03A-01D-0739-09 TCGA-AB-3005-11A-01D-0739-09 A A A G A A Verified Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq 1 dbGAP Illumina HiSeq 85335b80-6d61-4344-8ab3-1cf4be2ee53f f02e1039-61d1-460f-a731-91d178483835 21 33846477 33846477 A G SNP SON NM_138927.1 human genbank 54_36p +1 reviewed missense c.3070 p.M1024V 1.000 NULL HMMPfam_G-patch,HMMSmart_SM00443,HMMPfam_dsrm,superfamily_dsRNA-binding domain-like - no_errors 1197 2 0.17 315 238 43.04 149 136 47.72 +GCAT 0 genome.wustl.edu 37 22 38209532 38209532 + Silent SNP C C T TCGA-AB-3005-03A-01D-0739-09 TCGA-AB-3005-11A-01D-0739-09 C C C T C C Verified Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq 1 dbGAP Illumina HiSeq 85335b80-6d61-4344-8ab3-1cf4be2ee53f f02e1039-61d1-460f-a731-91d178483835 22 36539478 36539478 C T SNP GCAT NM_014291.2 human genbank 54_36p +1 reviewed silent c.492 p.D164 0.999 HMMPfam_Aminotran_1_2,superfamily_PyrdxlP-dep_Trfase_major PatternScan_AA_TRANSFER_CLASS_2,HMMPfam_Aminotran_1_2,superfamily_PyrdxlP-dep_Trfase_major - no_errors 779 0 0.00 180 117 39.39 10 7 41.18 +PLXNA3 0 genome.wustl.edu 37 X 153691781 153691781 + Silent SNP C C T TCGA-AB-3006-03A-01D-0739-09 TCGA-AB-3006-11A-01D-0739-09 C C C T C C Verified Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq 1 dbGAP Illumina HiSeq 852e4100-27a4-4253-b1ae-089fe0fec4c3 3ecb6bf3-b4c8-43ad-9928-411550ebc27c X 153344975 153344975 C T SNP PLXNA3 NM_017514.3 human genbank 54_36p +1 validated silent c.1365 p.P455 0.183 HMMPfam_Sema,HMMSmart_Sema,superfamily_Sema HMMPfam_Sema,HMMSmart_Sema,superfamily_Sema,HMMPfam_PSI,HMMPfam_TIG,HMMSmart_IPT,HMMSmart_PSI,superfamily_Rho_GAP,HMMPfam_Plexin_cytopl,superfamily_Ig_E-set,superfamily_Plexin-like_fold - no_errors 93 3 3.12 23 92 80.00 NA NA NA +ZNF687 0 genome.wustl.edu 37 1 151259855 151259855 + Missense_Mutation SNP C C G TCGA-AB-3006-03A-01D-0739-09 TCGA-AB-3006-11A-01D-0739-09 C C C G C C Verified Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq 1 dbGAP Illumina HiSeq 852e4100-27a4-4253-b1ae-089fe0fec4c3 3ecb6bf3-b4c8-43ad-9928-411550ebc27c 1 149526479 149526479 C G SNP ZNF687 NM_020832.1 human genbank 54_36p +1 provisional missense c.1088 p.A363G 0.478 NULL HMMPfam_zf-C2H2,PatternScan_ZINC_FINGER_C2H2_1,HMMSmart_SM00355,superfamily_C2H2 and C2HC zinc fingers - no_errors 235 10 4.08 231 175 43.10 31 35 53.03 +DDR2 0 genome.wustl.edu 37 1 162725552 162725552 + Missense_Mutation SNP G G A TCGA-AB-3006-03A-01D-0739-09 TCGA-AB-3006-11A-01D-0739-09 G G G A G G Verified Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq 1 dbGAP Illumina HiSeq 852e4100-27a4-4253-b1ae-089fe0fec4c3 3ecb6bf3-b4c8-43ad-9928-411550ebc27c 1 160992176 160992176 G A SNP DDR2 NM_001014796.1 human genbank 54_36p +1 reviewed missense c.664 p.G222R 0.972 NULL HMMPfam_F5_F8_type_C,HMMSmart_FA58C,PatternScan_FA58C_1,PatternScan_FA58C_2,HMMPfam_Pkinase_Tyr,HMMSmart_TyrKc,PatternScan_RECEPTOR_TYR_KIN_II,PatternScan_PROTEIN_KINASE_TYR,superfamily_Gal_bind_like,superfamily_Kinase_like - no_errors 283 5 1.74 198 112 36.13 NA NA NA +CAPG 0 genome.wustl.edu 37 2 85628972 85628972 + Silent SNP C C G TCGA-AB-3006-03A-01D-0739-09 TCGA-AB-3006-11A-01D-0739-09 C C C G C C Verified Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq 1 dbGAP Illumina HiSeq 852e4100-27a4-4253-b1ae-089fe0fec4c3 3ecb6bf3-b4c8-43ad-9928-411550ebc27c 2 85482483 85482483 C G SNP CAPG NM_001747.2 human genbank 54_36p -1 reviewed silent c.132 p.S44 0.472 HMMSmart_SM00262,HMMPfam_Gelsolin,superfamily_Actin depolymerizing proteins HMMSmart_SM00262,HMMPfam_Gelsolin,superfamily_Actin depolymerizing proteins - no_errors 246 13 5.02 171 114 40.00 3 12 80.00 +SULT1C2 0 genome.wustl.edu 37 2 108917366 108917366 + Missense_Mutation SNP C C T TCGA-AB-3006-03A-01D-0739-09 TCGA-AB-3006-11A-01D-0739-09 C C C T C C Verified Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq 1 dbGAP Illumina HiSeq 852e4100-27a4-4253-b1ae-089fe0fec4c3 3ecb6bf3-b4c8-43ad-9928-411550ebc27c 2 108283798 108283798 C T SNP SULT1C2 NM_176825.3 human genbank 54_36p +1 reviewed missense c.383 p.P128L 0.728 HMMPfam_Sulfotransfer_1,superfamily_P-loop containing nucleoside triphosphate hydrolases HMMPfam_Sulfotransfer_1,superfamily_P-loop containing nucleoside triphosphate hydrolases - no_errors 334 13 3.74 290 178 38.03 3 4 57.14 +PTPRN 0 genome.wustl.edu 37 2 220166388 220166388 + Missense_Mutation SNP G G A TCGA-AB-3006-03A-01D-0739-09 TCGA-AB-3006-11A-01D-0739-09 G G G A G G Verified Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq 1 dbGAP Illumina HiSeq 852e4100-27a4-4253-b1ae-089fe0fec4c3 3ecb6bf3-b4c8-43ad-9928-411550ebc27c 2 219874632 219874632 G A SNP PTPRN NM_002846.2 human genbank 54_36p -1 reviewed missense c.1048 p.R350C 0.966 NULL HMMPfam_Y_phosphatase,HMMSmart_SM00194,HMMSmart_SM00404,PatternScan_TYR_PHOSPHATASE_1,superfamily_(Phosphotyrosine protein) phosphatases II - no_errors 274 13 4.53 355 258 42.09 NA NA NA +TRPC1 0 genome.wustl.edu 37 3 142503880 142503880 + Missense_Mutation SNP T T C TCGA-AB-3006-03A-01D-0739-09 TCGA-AB-3006-11A-01D-0739-09 T T T C T T Verified Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq 1 dbGAP Illumina HiSeq 852e4100-27a4-4253-b1ae-089fe0fec4c3 3ecb6bf3-b4c8-43ad-9928-411550ebc27c 3 143986570 143986570 T C SNP TRPC1 NM_003304.4 human genbank 54_36p +1 validated missense c.1193 p.I398T 1.000 NULL HMMSmart_SM00248,superfamily_Ankyrin repeat,HMMPfam_Ion_trans,HMMPfam_TRP_2 - no_errors 91 0 0.00 80 57 41.61 NA NA NA +TET2 0 genome.wustl.edu 37 4 106193892 106193892 + Nonsense_Mutation SNP C C T TCGA-AB-3006-03A-01D-0739-09 TCGA-AB-3006-11A-01D-0739-09 C C C T C C Verified Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq 1 dbGAP Illumina HiSeq 852e4100-27a4-4253-b1ae-089fe0fec4c3 3ecb6bf3-b4c8-43ad-9928-411550ebc27c 4 106413341 106413341 C T SNP TET2 ENST00000265149 human ensembl 54_36p +1 known nonsense c.760 p.R254* 0.839 NULL NULL - no_start_codon 191 6 3.03 249 158 38.82 38 25 39.68 +TRAM1L1 0 genome.wustl.edu 37 4 118006248 118006248 + Missense_Mutation SNP A A T TCGA-AB-3006-03A-01D-0739-09 TCGA-AB-3006-11A-01D-0739-09 A A A T A A Verified Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq 1 dbGAP Illumina HiSeq 852e4100-27a4-4253-b1ae-089fe0fec4c3 3ecb6bf3-b4c8-43ad-9928-411550ebc27c 4 118225696 118225696 A T SNP TRAM1L1 NM_152402.2 human genbank 54_36p -1 validated missense c.302 p.V101E 1.000 HMMPfam_TRAM1 HMMPfam_TRAM_LAG1_CLN8,HMMSmart_TLC,HMMPfam_TRAM1 - no_errors 113 2 1.74 187 136 42.11 NA NA NA +MIER3 0 genome.wustl.edu 37 5 56224656 56224656 + Missense_Mutation SNP G G C TCGA-AB-3006-03A-01D-0739-09 TCGA-AB-3006-11A-01D-0739-09 G G G C G G Verified Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq 1 dbGAP Illumina HiSeq 852e4100-27a4-4253-b1ae-089fe0fec4c3 3ecb6bf3-b4c8-43ad-9928-411550ebc27c 5 56260413 56260413 G C SNP MIER3 NM_152622.3 human genbank 54_36p -1 validated missense c.859 p.R287G 1.000 HMMSmart_SANT,superfamily_Homeodomain_like,HMMPfam_Myb_DNA-binding HMMPfam_ELM2,HMMSmart_SANT,superfamily_Homeodomain_like,HMMPfam_Myb_DNA-binding,PatternScan_EF_HAND_1 - no_errors 258 7 2.64 182 87 32.34 13 12 48.00 +MAP1B 0 genome.wustl.edu 37 5 71491958 71491958 + Missense_Mutation SNP T T C TCGA-AB-3006-03A-01D-0739-09 TCGA-AB-3006-11A-01D-0739-09 T T T C T T Verified Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq 1 dbGAP Illumina HiSeq 852e4100-27a4-4253-b1ae-089fe0fec4c3 3ecb6bf3-b4c8-43ad-9928-411550ebc27c 5 71527714 71527714 T C SNP MAP1B NM_005909.3 human genbank 54_36p +1 validated missense c.2776 p.F926L 1.000 NULL HMMPfam_MAP1B_neuraxin,PatternScan_MAP1B_NEURAXIN - no_errors 464 17 3.52 471 349 42.41 NA NA NA +PCDHA4 0 genome.wustl.edu 37 5 140188067 140188067 + Missense_Mutation SNP C C T TCGA-AB-3006-03A-01D-0739-09 TCGA-AB-3006-11A-01D-0739-09 C C C T C C Verified Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq 1 dbGAP Illumina HiSeq 852e4100-27a4-4253-b1ae-089fe0fec4c3 3ecb6bf3-b4c8-43ad-9928-411550ebc27c 5 140168251 140168251 C T SNP PCDHA4 NM_018907.2 human genbank 54_36p +1 reviewed missense c.1295 p.S432L 0.781 HMMPfam_Cadherin,HMMSmart_SM00112,superfamily_Cadherin-like HMMPfam_Cadherin,HMMSmart_SM00112,PatternScan_CADHERIN_1,HMMPfam_Cadherin_2,superfamily_Cadherin-like - no_errors 44 0 0.00 127 101 44.10 NA NA NA +GRM8 0 genome.wustl.edu 37 7 126173251 126173251 + Missense_Mutation SNP G G A TCGA-AB-3006-03A-01D-0739-09 TCGA-AB-3006-11A-01D-0739-09 G G G A G G Verified Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq 1 dbGAP Illumina HiSeq 852e4100-27a4-4253-b1ae-089fe0fec4c3 3ecb6bf3-b4c8-43ad-9928-411550ebc27c 7 125960487 125960487 G A SNP GRM8 NM_000845.2 human genbank 54_36p -1 reviewed missense c.2185 p.R729W 0.995 HMMPfam_7tm_3 HMMPfam_ANF_receptor,HMMPfam_NCD3G,HMMPfam_7tm_3,PatternScan_G_PROTEIN_RECEP_F3_1,PatternScan_G_PROTEIN_RECEP_F3_2,PatternScan_G_PROTEIN_RECEP_F3_3,superfamily_Periplasmic binding protein-like I - no_errors 378 3 0.79 187 129 40.69 NA NA NA +ZNF485 0 genome.wustl.edu 37 10 44112535 44112535 + Missense_Mutation SNP C C G TCGA-AB-3006-03A-01D-0739-09 TCGA-AB-3006-11A-01D-0739-09 C C C G C C Verified Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq 1 dbGAP Illumina HiSeq 852e4100-27a4-4253-b1ae-089fe0fec4c3 3ecb6bf3-b4c8-43ad-9928-411550ebc27c 10 43432541 43432541 C G SNP ZNF485 NM_145312.3 human genbank 54_36p +1 validated missense c.927 p.H309Q 0.995 HMMPfam_zf-C2H2,PatternScan_ZINC_FINGER_C2H2_1,HMMSmart_ZnF_C2H2,superfamily_SSF57667 HMMSmart_KRAB,HMMPfam_zf-C2H2,PatternScan_ZINC_FINGER_C2H2_1,HMMSmart_ZnF_C2H2,superfamily_SSF57667 - no_errors 165 0 0.00 143 100 41.15 6 9 60.00 +B4GALNT1 0 genome.wustl.edu 37 12 58025850 58025850 + Silent SNP G G A TCGA-AB-3006-03A-01D-0739-09 TCGA-AB-3006-11A-01D-0739-09 G G G A G G Verified Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq 1 dbGAP Illumina HiSeq 852e4100-27a4-4253-b1ae-089fe0fec4c3 3ecb6bf3-b4c8-43ad-9928-411550ebc27c 12 56312117 56312117 G A SNP B4GALNT1 NM_001478.3 human genbank 54_36p -1 reviewed silent c.66 p.L22 0.988 NULL HMMPfam_Glycos_transf_2,superfamily_SSF53448 - no_errors 216 4 1.82 118 84 41.58 NA NA NA +USP44 0 genome.wustl.edu 37 12 95926872 95926872 + Silent SNP A A G TCGA-AB-3006-03A-01D-0739-09 TCGA-AB-3006-11A-01D-0739-09 A A A G A A Verified Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq 1 dbGAP Illumina HiSeq 852e4100-27a4-4253-b1ae-089fe0fec4c3 3ecb6bf3-b4c8-43ad-9928-411550ebc27c 12 94451003 94451003 A G SNP USP44 NM_001042403.1 human genbank 54_36p -1 validated silent c.1161 p.T387 0.997 HMMPfam_UCH,superfamily_Cysteine proteinases HMMPfam_UCH,HMMPfam_zf-UBP,HMMSmart_SM00290,PatternScan_UCH_2_1,PatternScan_UCH_2_2,superfamily_Cysteine proteinases - no_errors 172 5 2.82 258 158 37.98 12 9 42.86 +CACNA1G 0 genome.wustl.edu 37 17 48667949 48667949 + Missense_Mutation SNP T T C TCGA-AB-3006-03A-01D-0739-09 TCGA-AB-3006-11A-01D-0739-09 T T T C T T Verified Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq 1 dbGAP Illumina HiSeq 852e4100-27a4-4253-b1ae-089fe0fec4c3 3ecb6bf3-b4c8-43ad-9928-411550ebc27c 17 46022948 46022948 T C SNP CACNA1G NM_018896.3 human genbank 54_36p +1 validated missense c.2419 p.Y807H 1.000 HMMPfam_Ion_trans,superfamily_Voltage-gated potassium channels HMMPfam_Ion_trans,superfamily_Voltage-gated potassium channels - no_errors 383 1 0.26 425 297 41.02 NA NA NA +ATP9B 0 genome.wustl.edu 37 18 77013482 77013482 + Silent SNP T T A TCGA-AB-3006-03A-01D-0739-09 TCGA-AB-3006-11A-01D-0739-09 T T T A T T Verified Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq 1 dbGAP Illumina HiSeq 852e4100-27a4-4253-b1ae-089fe0fec4c3 3ecb6bf3-b4c8-43ad-9928-411550ebc27c 18 75114470 75114470 T A SNP ATP9B NM_198531.3 human genbank 54_36p +1 validated silent c.1209 p.G403 0.999 HMMPfam_E1-E2_ATPase HMMPfam_Hydrolase,HMMPfam_E1-E2_ATPase,PatternScan_ATPASE_E1_E2,superfamily_HAD-like,superfamily_Calcium ATPase transduction domain A,superfamily_Metal cation-transporting ATPase ATP-binding domain N - no_errors 75 3 3.85 168 118 41.11 21 21 50.00 +NDUFA13 0 genome.wustl.edu 37 19 19626967 19626967 + Missense_Mutation SNP T T C TCGA-AB-3006-03A-01D-0739-09 TCGA-AB-3006-11A-01D-0739-09 T T T C T T Verified Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq 1 dbGAP Illumina HiSeq 852e4100-27a4-4253-b1ae-089fe0fec4c3 3ecb6bf3-b4c8-43ad-9928-411550ebc27c 19 19487967 19487967 T C SNP NDUFA13 NM_015965.5 human genbank 54_36p +1 validated missense c.169 p.S57P 0.000 NULL HMMPfam_GRIM-19 - no_errors 250 5 1.96 186 138 42.59 2 3 60.00 +FLT3 0 genome.wustl.edu 37 13 28608262 28608263 + In_Frame_Ins INS - - TCATATTCTCTGAAATCAACGTAGAAGTACTCA TCGA-AB-3006-03A-01D-0739-09 TCGA-AB-3006-11A-01D-0739-09 - - - TCATATTCTCTGAAATCAACGTAGAAGTACTCA - - Verified Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq 1 dbGAP Illumina HiSeq 852e4100-27a4-4253-b1ae-089fe0fec4c3 3ecb6bf3-b4c8-43ad-9928-411550ebc27c 13 27506262 27506263 - TCATATTCTCTGAAATCAACGTAGAAGTACTCA INS FLT3 NM_004119.2 human genbank 54_36p -1 reviewed in_frame_ins c.1793 p.598in_frame_insDEYFYVDFREY 0.821 superfamily_Kinase_like HMMPfam_Pkinase_Tyr,HMMSmart_TyrKc,PatternScan_RECEPTOR_TYR_KIN_III,PatternScan_PROTEIN_KINASE_TYR,superfamily_Kinase_like,HMMPfam_ig,PatternScan_PROTEIN_KINASE_ATP,superfamily_SSF48726 - no_errors NA NA NA NA NA NA NA NA NA +DCTN1 0 genome.wustl.edu 37 2 74605337 74605337 + Silent SNP G G A TCGA-AB-3007-03A-01D-0739-09 TCGA-AB-3007-11A-01D-0739-09 G G G A G G Verified Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq 1 dbGAP Illumina HiSeq f6d05765-b161-480b-8613-b243e7a579a0 fff75bd4-e19f-4b6c-841d-12f05e25a817 2 74458845 74458845 G A SNP DCTN1 NM_004082.1 human genbank 54_36p -1 reviewed silent c.69 p.S23 0.990 superfamily_Cap-Gly domain HMMPfam_CAP_GLY,PatternScan_CAP_GLY_1,superfamily_Spectrin repeat,superfamily_Cap-Gly domain - no_errors 949 1 0.11 646 362 35.84 14 10 41.67 +TMEM169 0 genome.wustl.edu 37 2 216964917 216964917 + Silent SNP C C T TCGA-AB-3007-03A-01D-0739-09 TCGA-AB-3007-11A-01D-0739-09 C C C T C C Verified Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq 1 dbGAP Illumina HiSeq f6d05765-b161-480b-8613-b243e7a579a0 fff75bd4-e19f-4b6c-841d-12f05e25a817 2 216673162 216673162 C T SNP TMEM169 NM_138390.1 human genbank 54_36p +1 validated silent c.546 p.Y182 0.998 NULL NULL - no_errors 2880 4 0.14 1169 629 34.91 NA NA NA +LOC391769 0 genome.wustl.edu 37 5 17655570 17655570 + Silent SNP G G A TCGA-AB-3007-03A-01D-0739-09 TCGA-AB-3007-11A-01D-0739-09 G G G A G G Verified Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq 1 dbGAP Illumina HiSeq f6d05765-b161-480b-8613-b243e7a579a0 fff75bd4-e19f-4b6c-841d-12f05e25a817 5 17688319 17688319 G A SNP LOC391769 XM_373079.1 human genbank 54_36p -1 model silent c.78 p.A26 0.986 superfamily_Histone-fold HMMSmart_SM00428,PatternScan_HISTONE_H3_2,HMMPfam_Histone,superfamily_Histone-fold - no_errors 197 0 0.00 221 161 41.82 NA NA NA +TTLL2 0 genome.wustl.edu 37 6 167754667 167754667 + Missense_Mutation SNP G G A TCGA-AB-3007-03A-01D-0739-09 TCGA-AB-3007-11A-01D-0739-09 G G G A G G Verified Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq 1 dbGAP Illumina HiSeq f6d05765-b161-480b-8613-b243e7a579a0 fff75bd4-e19f-4b6c-841d-12f05e25a817 6 167674657 167674657 G A SNP TTLL2 NM_031949.4 human genbank 54_36p +1 validated missense c.1279 p.A427T 0.000 NULL HMMPfam_TTL,superfamily_Glutathione synthetase ATP-binding domain-like - no_errors 1012 2 0.20 331 188 36.08 2 0 0.00 +STX3 0 genome.wustl.edu 37 11 59559689 59559689 + Splice_Site SNP G G T TCGA-AB-3007-03A-01D-0739-09 TCGA-AB-3007-11A-01D-0739-09 G G G T G G Verified Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq 1 dbGAP Illumina HiSeq f6d05765-b161-480b-8613-b243e7a579a0 fff75bd4-e19f-4b6c-841d-12f05e25a817 11 59316265 59316265 G T SNP STX3 NM_004177.3 human genbank 54_36p +1 provisional splice_site c.466+1 e6+1 1.000 - - - no_errors 1497 0 0.00 683 387 36.13 0 3 100.00 +POU6F1 0 genome.wustl.edu 37 12 51590705 51590705 + Missense_Mutation SNP A A C TCGA-AB-3007-03A-01D-0739-09 TCGA-AB-3007-11A-01D-0739-09 A A A C A A Verified Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq 1 dbGAP Illumina HiSeq f6d05765-b161-480b-8613-b243e7a579a0 fff75bd4-e19f-4b6c-841d-12f05e25a817 12 49876972 49876972 A C SNP POU6F1 ENST00000389243 human ensembl 54_36p -1 known missense c.759 p.S253R 1.000 NULL HMMPfam_Pou,HMMSmart_SM00352,PatternScan_POU_1,PatternScan_POU_2,HMMPfam_Homeobox,HMMSmart_SM00389,superfamily_Homeodomain-like,superfamily_lambda repressor-like DNA-binding domains - no_errors 369 2 0.54 296 159 34.87 2 0 0.00 +SLC12A1 0 genome.wustl.edu 37 15 48539175 48539175 + Missense_Mutation SNP G G A TCGA-AB-3007-03A-01D-0739-09 TCGA-AB-3007-11A-01D-0739-09 G G G A G G Verified Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq 1 dbGAP Illumina HiSeq f6d05765-b161-480b-8613-b243e7a579a0 fff75bd4-e19f-4b6c-841d-12f05e25a817 15 46326467 46326467 G A SNP SLC12A1 NM_000338.2 human genbank 54_36p +1 validated missense c.1522 p.A508T 0.998 HMMPfam_AA_permease HMMPfam_AA_permease,HMMPfam_AA_permease_N - no_errors 1545 3 0.19 1033 326 23.88 NA NA NA +G6PC 0 genome.wustl.edu 37 17 41063001 41063001 + Missense_Mutation SNP T T G TCGA-AB-3007-03A-01D-0739-09 TCGA-AB-3007-11A-01D-0739-09 T T T G T T Verified Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq 1 dbGAP Illumina HiSeq f6d05765-b161-480b-8613-b243e7a579a0 fff75bd4-e19f-4b6c-841d-12f05e25a817 17 38316527 38316527 T G SNP G6PC NM_000151.2 human genbank 54_36p +1 reviewed missense c.632 p.L211R 0.741 NULL HMMPfam_PAP2,HMMSmart_acidPPc,superfamily_AcPase_VanPerase - no_errors 1467 0 0.00 1322 792 37.43 NA NA NA +CECR2 0 genome.wustl.edu 37 22 18022686 18022686 + Missense_Mutation SNP G G A TCGA-AB-3007-03A-01D-0739-09 TCGA-AB-3007-11A-01D-0739-09 G G G A G G Verified Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq 1 dbGAP Illumina HiSeq f6d05765-b161-480b-8613-b243e7a579a0 fff75bd4-e19f-4b6c-841d-12f05e25a817 22 16402686 16402686 G A SNP CECR2 ENST00000400585 human ensembl 54_36p +1 known missense c.2788 p.D930N 0.021 NULL HMMPfam_Bromodomain,HMMSmart_BROMO,superfamily_Bromodomain,PatternScan_BROMODOMAIN_1 - no_errors 356 2 0.56 352 181 33.96 NA NA NA +FLT3 0 genome.wustl.edu 37 13 28608255 28608256 + In_Frame_Ins INS - - ATCATATTCATATTCTCTGAA TCGA-AB-3007-03A-01D-0739-09 TCGA-AB-3007-11A-01D-0739-09 - - - ATCATATTCATATTCTCTGAA - - Verified Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq 1 dbGAP Illumina HiSeq f6d05765-b161-480b-8613-b243e7a579a0 fff75bd4-e19f-4b6c-841d-12f05e25a817 13 27506255 27506256 - ATCATATTCATATTCTCTGAA INS FLT3 NM_004119.2 human genbank 54_36p -1 reviewed in_frame_ins c.1801_1800 p.600in_frame_insFREYEYD 1.000:0.998 superfamily_Kinase_like HMMPfam_Pkinase_Tyr,HMMSmart_TyrKc,PatternScan_RECEPTOR_TYR_KIN_III,PatternScan_PROTEIN_KINASE_TYR,superfamily_Kinase_like,HMMPfam_ig,PatternScan_PROTEIN_KINASE_ATP,superfamily_SSF48726 - no_errors NA NA NA NA NA NA NA NA NA +HMCN1 0 genome.wustl.edu 37 1 186094773 186094773 + Silent SNP G G A TCGA-AB-3008-03A-01D-0739-09 TCGA-AB-3008-11A-01D-0739-09 G G G A G G Verified Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq 1 dbGAP Illumina HiSeq 21eeb895-fd30-4e1b-914e-f5b37df7d76c f4101358-99f4-4e2d-9203-df902712e354 1 184361396 184361396 G A SNP HMCN1 NM_031935.2 human genbank 54_36p +1 reviewed silent c.12537 p.T4179 0.818 HMMSmart_SM00409,HMMPfam_I-set,superfamily_Immunoglobulin PatternScan_ASX_HYDROXYL,PatternScan_CECROPIN,HMMPfam_TSP_1,HMMSmart_SM00209,superfamily_TSP-1 type 1 repeat,HMMSmart_SM00179,HMMSmart_SM00406,HMMSmart_SM00408,HMMSmart_SM00409,HMMPfam_EGF,HMMSmart_SM00181,HMMPfam_G2F,HMMSmart_SM00682,superfamily_GFP-like,PatternScan_EGF_2,HMMPfam_EGF_CA,HMMPfam_I-set,HMMPfam_ig,PatternScan_EGF_CA,superfamily_Immunoglobulin,superfamily_vWA-like,superfamily_EGF/Laminin - no_errors 459 155 25.24 603 618 50.61 NA NA NA +KAT2B 0 genome.wustl.edu 37 3 20164251 20164251 + Silent SNP G G A TCGA-AB-3008-03A-01D-0739-09 TCGA-AB-3008-11A-01D-0739-09 G G G A G G Verified Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq 1 dbGAP Illumina HiSeq 21eeb895-fd30-4e1b-914e-f5b37df7d76c f4101358-99f4-4e2d-9203-df902712e354 3 20139255 20139255 G A SNP KAT2B NM_003884.4 human genbank 54_36p +1 reviewed silent c.1368 p.E456 1.000 NULL HMMPfam_Acetyltransf_1,HMMPfam_Bromodomain,HMMSmart_BROMO,superfamily_Bromodomain,HMMPfam_PCAF_N,superfamily_Acyl_CoA_acyltransferase,PatternScan_BROMODOMAIN_1 - no_errors 981 271 21.65 503 385 43.26 39 18 31.58 +C8orf84 0 genome.wustl.edu 37 8 73993401 73993401 + Missense_Mutation SNP C C T TCGA-AB-3008-03A-01D-0739-09 TCGA-AB-3008-11A-01D-0739-09 C C C T C C Verified Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq 1 dbGAP Illumina HiSeq 21eeb895-fd30-4e1b-914e-f5b37df7d76c f4101358-99f4-4e2d-9203-df902712e354 8 74155955 74155955 C T SNP C8orf84 NM_153225.3 human genbank 54_36p -1 validated missense c.247 p.D83N 0.085 HMMSmart_SM00209,superfamily_TSP-1 type 1 repeat HMMSmart_SM00209,superfamily_TSP-1 type 1 repeat,PatternScan_SMB_1 - no_errors 729 289 28.39 350 373 51.52 NA NA NA +RSRC2 0 genome.wustl.edu 37 12 123001816 123001816 + Missense_Mutation SNP C C G TCGA-AB-3008-03A-01D-0739-09 TCGA-AB-3008-11A-01D-0739-09 C C C G C C Verified Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq 1 dbGAP Illumina HiSeq 21eeb895-fd30-4e1b-914e-f5b37df7d76c f4101358-99f4-4e2d-9203-df902712e354 12 121567769 121567769 C G SNP RSRC2 NM_023012.4 human genbank 54_36p -1 validated missense c.560 p.R187T 1.000 NULL NULL - no_errors 305 127 29.40 356 337 48.63 59 67 53.17 +CEBPA 0 genome.wustl.edu 37 19 33792408 33792409 + In_Frame_Ins INS - - CAA TCGA-AB-3008-03A-01D-0739-09 TCGA-AB-3008-11A-01D-0739-09 - - - CAA - - Verified Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq 1 dbGAP Illumina HiSeq 21eeb895-fd30-4e1b-914e-f5b37df7d76c f4101358-99f4-4e2d-9203-df902712e354 19 38484248 38484249 - CAA INS CEBPA NM_004364.3 human genbank 54_36p -1 reviewed in_frame_ins c.913_912 p.304in_frame_insL 1.000:1.000 HMMSmart_BRLZ,HMMPfam_bZIP_2 HMMSmart_BRLZ,PatternScan_BZIP_BASIC,HMMPfam_bZIP_2 - no_errors 63 9 12.50 122 42 25.61 387 298 43.50 +LOC100132800 0 genome.wustl.edu 37 19 52094258 52094259 + In_Frame_Ins INS - - CACCTG rs113581628 TCGA-AB-3008-03A-01D-0739-09 TCGA-AB-3008-11A-01D-0739-09 - - - CACCTG - - Verified Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq 1 dbGAP Illumina HiSeq 21eeb895-fd30-4e1b-914e-f5b37df7d76c f4101358-99f4-4e2d-9203-df902712e354 19 56786070 56786071 - CACCTG INS LOC100132800 XM_001724852.1 human genbank 54_36p +1 model in_frame_ins c.45_46 p.17in_frame_insHL 0.099:0.155 NULL NULL - no_errors NA NA NA NA NA NA NA NA NA +PHF6 0 genome.wustl.edu 37 X 133551224 133551224 + Missense_Mutation SNP G G T TCGA-AB-3009-03A-01D-0739-09 TCGA-AB-3009-11A-01D-0739-09 G G G T G G Verified Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq 1 dbGAP Illumina HiSeq dda8a1d8-dd5b-4640-8f48-a2ef2f4898dc b77c4cc4-b7bb-45b7-8324-70f96f9a3629 X 133378890 133378890 G T SNP PHF6 NM_001015877.1 human genbank 54_36p +1 reviewed missense c.860 p.G287V 1.000 HMMSmart_SM00249,superfamily_FYVE/PHD zinc finger HMMSmart_SM00249,superfamily_FYVE/PHD zinc finger - no_errors 449 15 3.23275862068966 22 316 93.491124260355 0 37 100.00 +SV2A 0 genome.wustl.edu 37 1 149877521 149877521 + Silent SNP G G A TCGA-AB-3009-03A-01D-0739-09 TCGA-AB-3009-11A-01D-0739-09 G G G A G G Verified Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq 1 dbGAP Illumina HiSeq dda8a1d8-dd5b-4640-8f48-a2ef2f4898dc b77c4cc4-b7bb-45b7-8324-70f96f9a3629 1 148144145 148144145 G A SNP SV2A NM_014849.3 human genbank 54_36p -1 validated silent c.1956 p.I652 0.996 HMMPfam_MFS_1,superfamily_MFS general substrate transporter PatternScan_SUGAR_TRANSPORT_2,HMMPfam_MFS_1,superfamily_MFS general substrate transporter - no_errors 4665 53 1.12 849 772 47.62 46 77 62.60 +NMNAT2 0 genome.wustl.edu 37 1 183221856 183221856 + Missense_Mutation SNP C C T TCGA-AB-3009-03A-01D-0739-09 TCGA-AB-3009-11A-01D-0739-09 C C C T C C Verified Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq 1 dbGAP Illumina HiSeq dda8a1d8-dd5b-4640-8f48-a2ef2f4898dc b77c4cc4-b7bb-45b7-8324-70f96f9a3629 1 181488479 181488479 C T SNP NMNAT2 NM_015039.2 human genbank 54_36p -1 reviewed missense c.844 p.G282S 0.996 superfamily_Nucleotidylyl transferase HMMPfam_CTP_transf_2,superfamily_Nucleotidylyl transferase - no_errors 1606 7 0.43 741 577 43.78 NA NA NA +KCNT2 0 genome.wustl.edu 37 1 196197412 196197412 + Missense_Mutation SNP C C T TCGA-AB-3009-03A-01D-0739-09 TCGA-AB-3009-11A-01D-0739-09 C C C T C C Verified Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq 1 dbGAP Illumina HiSeq dda8a1d8-dd5b-4640-8f48-a2ef2f4898dc b77c4cc4-b7bb-45b7-8324-70f96f9a3629 1 194464035 194464035 C T SNP KCNT2 NM_198503.2 human genbank 54_36p -1 validated missense c.3350 p.R1117Q 0.822 NULL HMMPfam_BK_channel_a,HMMPfam_Ion_trans_2,superfamily_NAD(P)-binding Rossmann-fold domains,superfamily_Voltage-gated potassium channels - no_errors 610 8 1.29449838187702 255 220 46.3157894736842 NA NA NA +NAV1 0 genome.wustl.edu 37 1 201618123 201618123 + Silent SNP C C T TCGA-AB-3009-03A-01D-0739-09 TCGA-AB-3009-11A-01D-0739-09 C C C T C C Verified Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq 1 dbGAP Illumina HiSeq dda8a1d8-dd5b-4640-8f48-a2ef2f4898dc b77c4cc4-b7bb-45b7-8324-70f96f9a3629 1 199884746 199884746 C T SNP NAV1 NM_020443.3 human genbank 54_36p +1 reviewed silent c.327 p.P109 0.689 NULL HMMSmart_AAA,PatternScan_PPASE,superfamily_SSF52540 - no_errors 790 13 1.61892901618929 347 265 43.3006535947712 1 2 66.67 +ABCB11 0 genome.wustl.edu 37 2 169780250 169780250 + Missense_Mutation SNP G G A TCGA-AB-3009-03A-01D-0739-09 TCGA-AB-3009-11A-01D-0739-09 G G G A G G Verified Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq 1 dbGAP Illumina HiSeq dda8a1d8-dd5b-4640-8f48-a2ef2f4898dc b77c4cc4-b7bb-45b7-8324-70f96f9a3629 2 169488496 169488496 G A SNP ABCB11 NM_003742.2 human genbank 54_36p -1 reviewed missense c.3848 p.A1283V 0.982 HMMPfam_ABC_tran,HMMSmart_SM00382,superfamily_P-loop containing nucleoside triphosphate hydrolases HMMPfam_ABC_membrane,HMMPfam_ABC_tran,HMMSmart_SM00382,superfamily_Multidrug resistance ABC transporter MsbA N-terminal domain,PatternScan_ABC_TRANSPORTER_1,superfamily_P-loop containing nucleoside triphosphate hydrolases - no_errors 813 10 1.21506682867558 324 287 46.9721767594108 NA NA NA +BRPF1 0 genome.wustl.edu 37 3 9786731 9786731 + Missense_Mutation SNP T T C TCGA-AB-3009-03A-01D-0739-09 TCGA-AB-3009-11A-01D-0739-09 T T T C T T Verified Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq 1 dbGAP Illumina HiSeq dda8a1d8-dd5b-4640-8f48-a2ef2f4898dc b77c4cc4-b7bb-45b7-8324-70f96f9a3629 3 9761731 9761731 T C SNP BRPF1 NM_001003694.1 human genbank 54_36p +1 reviewed missense c.2960 p.V987A 1.000 NULL HMMPfam_PWWP,HMMSmart_PWWP,HMMPfam_Bromodomain,HMMSmart_BROMO,superfamily_Bromodomain,HMMSmart_PHD,PatternScan_ZINC_FINGER_C2H2_1,superfamily_FYVE_PHD_ZnF,HMMSmart_ZnF_C2H2,HMMPfam_EPL1,PatternScan_ZF_PHD_1,HMMPfam_PHD,superfamily_SSF63748 - no_errors 1044 2 0.19 291 203 40.85 32 30 48.39 +GNAI2 0 genome.wustl.edu 37 3 50293695 50293695 + Missense_Mutation SNP G G A rs137853227 TCGA-AB-3009-03A-01D-0739-09 TCGA-AB-3009-11A-01D-0739-09 G G G A G G Verified Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq 1 dbGAP Illumina HiSeq dda8a1d8-dd5b-4640-8f48-a2ef2f4898dc b77c4cc4-b7bb-45b7-8324-70f96f9a3629 3 50268699 50268699 G A SNP GNAI2 NM_002070.2 human genbank 54_36p +1 validated missense c.536 p.R179H 0.998 HMMPfam_G-alpha,superfamily_Transducin (alpha subunit) insertion domain,HMMSmart_SM00275,superfamily_P-loop containing nucleoside triphosphate hydrolases HMMPfam_G-alpha,superfamily_Transducin (alpha subunit) insertion domain,HMMSmart_SM00275,superfamily_P-loop containing nucleoside triphosphate hydrolases - no_errors 621 2 0.321027287319422 310 94 23.2673267326733 510 213 29.46 +LOC253820 0 genome.wustl.edu 37 3 168520771 168520771 + Silent SNP C C T TCGA-AB-3009-03A-01D-0739-09 TCGA-AB-3009-11A-01D-0739-09 C C C T C C Verified Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq 1 dbGAP Illumina HiSeq dda8a1d8-dd5b-4640-8f48-a2ef2f4898dc b77c4cc4-b7bb-45b7-8324-70f96f9a3629 3 170003465 170003465 C T SNP LOC253820 XM_001726233.1 human genbank 54_36p +1 model silent c.324 p.P108 0.015 HMMSmart_SM00181,superfamily_EGF/Laminin PatternScan_ASX_HYDROXYL,HMMSmart_SM00179,HMMSmart_SM00181,PatternScan_EGF_2,HMMPfam_EGF_CA,PatternScan_EGF_CA,superfamily_EGF/Laminin - no_errors 899 6 0.662983425414365 642 125 16.2972620599739 0 0 0.00 +DAXX 0 genome.wustl.edu 37 6 33288297 33288297 + Missense_Mutation SNP G G A TCGA-AB-3009-03A-01D-0739-09 TCGA-AB-3009-11A-01D-0739-09 G G G A G G Verified Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq 1 dbGAP Illumina HiSeq dda8a1d8-dd5b-4640-8f48-a2ef2f4898dc b77c4cc4-b7bb-45b7-8324-70f96f9a3629 6 33396275 33396275 G A SNP DAXX NM_001350.1 human genbank 54_36p -1 reviewed missense c.1111 p.R371W 1.000 HMMPfam_Daxx HMMPfam_Daxx - no_errors 1578 27 1.68 303 199 39.64 19 24 55.81 +DAAM2 0 genome.wustl.edu 37 6 39869234 39869234 + Missense_Mutation SNP C C T TCGA-AB-3009-03A-01D-0739-09 TCGA-AB-3009-11A-01D-0739-09 C C C T C C Verified Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq 1 dbGAP Illumina HiSeq dda8a1d8-dd5b-4640-8f48-a2ef2f4898dc b77c4cc4-b7bb-45b7-8324-70f96f9a3629 6 39977212 39977212 C T SNP DAAM2 NM_015345.2 human genbank 54_36p +1 validated missense c.2965 p.R989C 1.000 HMMSmart_SM00498 HMMSmart_SM00498,HMMPfam_Drf_FH3,HMMPfam_Drf_GBD,HMMPfam_FH2,superfamily_Formin homology 2 domain (FH2 domain) - no_errors 709 11 1.51 235 214 47.03 NA NA NA +TMEM151B 0 genome.wustl.edu 37 6 44243676 44243676 + Silent SNP G G A TCGA-AB-3009-03A-01D-0739-09 TCGA-AB-3009-11A-01D-0739-09 G G G A G G Verified Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq 1 dbGAP Illumina HiSeq dda8a1d8-dd5b-4640-8f48-a2ef2f4898dc b77c4cc4-b7bb-45b7-8324-70f96f9a3629 6 44351654 44351654 G A SNP TMEM151B ENST00000388811 human ensembl 54_36p +1 known silent c.1113 p.T371 0.977 NULL NULL - no_errors 292 1 0.34 116 103 47.03 NA NA NA +COL12A1 0 genome.wustl.edu 37 6 75860981 75860981 + Silent SNP G G A TCGA-AB-3009-03A-01D-0739-09 TCGA-AB-3009-11A-01D-0739-09 G G G A G G Verified Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq 1 dbGAP Illumina HiSeq dda8a1d8-dd5b-4640-8f48-a2ef2f4898dc b77c4cc4-b7bb-45b7-8324-70f96f9a3629 6 75917701 75917701 G A SNP COL12A1 NM_004370.5 human genbank 54_36p -1 reviewed silent c.4023 p.V1341 0.459 HMMPfam_VWA,HMMSmart_SM00327,superfamily_vWA-like HMMPfam_VWA,HMMSmart_SM00327,HMMSmart_SM00210,HMMPfam_fn3,HMMSmart_SM00060,HMMPfam_Collagen,superfamily_Fibronectin type III,superfamily_Concanavalin A-like lectins/glucanases,superfamily_vWA-like - no_errors 628 3 0.475435816164818 210 133 38.7755102040816 1 0 0.00 +LOC643962 0 genome.wustl.edu 37 6 87540311 87540311 + RNA SNP G G A TCGA-AB-3009-03A-01D-0739-09 TCGA-AB-3009-11A-01D-0739-09 G G G A G G Verified Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq 1 dbGAP Illumina HiSeq dda8a1d8-dd5b-4640-8f48-a2ef2f4898dc b77c4cc4-b7bb-45b7-8324-70f96f9a3629 6 87597030 87597030 G A SNP LOC643962 XR_041993.1 human genbank 54_36p -1 model rna NULL NULL 0.002 - - - no_errors 251 3 1.18110236220472 52 44 45.8333333333333 NA NA NA +GABRR1 0 genome.wustl.edu 37 6 89891699 89891699 + Missense_Mutation SNP C C T TCGA-AB-3009-03A-01D-0739-09 TCGA-AB-3009-11A-01D-0739-09 C C C T C C Verified Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq 1 dbGAP Illumina HiSeq dda8a1d8-dd5b-4640-8f48-a2ef2f4898dc b77c4cc4-b7bb-45b7-8324-70f96f9a3629 6 89948418 89948418 C T SNP GABRR1 NM_002042.3 human genbank 54_36p -1 reviewed missense c.856 p.A286T 1.000 HMMPfam_Neur_chan_memb,superfamily_Neurotransmitter-gated ion-channel transmembrane pore HMMPfam_Neur_chan_memb,superfamily_Neurotransmitter-gated ion-channel transmembrane pore,HMMPfam_Neur_chan_LBD,superfamily_Nicotinic receptor ligand binding domain-like,PatternScan_NEUROTR_ION_CHANNEL - no_errors 919 14 1.50 370 316 46.06 0 1 100.00 +GPRC6A 0 genome.wustl.edu 37 6 117127655 117127655 + Missense_Mutation SNP C C A TCGA-AB-3009-03A-01D-0739-09 TCGA-AB-3009-11A-01D-0739-09 C C C A C C Verified Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq 1 dbGAP Illumina HiSeq dda8a1d8-dd5b-4640-8f48-a2ef2f4898dc b77c4cc4-b7bb-45b7-8324-70f96f9a3629 6 117234348 117234348 C A SNP GPRC6A NM_148963.2 human genbank 54_36p -1 validated missense c.1213 p.D405Y 0.004 HMMPfam_ANF_receptor,superfamily_Periplasmic binding protein-like I HMMPfam_ANF_receptor,HMMPfam_NCD3G,HMMPfam_7tm_3,PatternScan_G_PROTEIN_RECEP_F3_2,superfamily_Periplasmic binding protein-like I - no_errors 999 12 1.19 493 434 46.82 NA NA NA +NCOA7 0 genome.wustl.edu 37 6 126210950 126210950 + Missense_Mutation SNP A A G TCGA-AB-3009-03A-01D-0739-09 TCGA-AB-3009-11A-01D-0739-09 A A A G A A Verified Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq 1 dbGAP Illumina HiSeq dda8a1d8-dd5b-4640-8f48-a2ef2f4898dc b77c4cc4-b7bb-45b7-8324-70f96f9a3629 6 126252643 126252643 A G SNP NCOA7 NM_181782.1 human genbank 54_36p +1 validated missense c.1750 p.K584E 0.014 NULL HMMSmart_SM00257,HMMPfam_GRAM,HMMPfam_TLD,HMMSmart_SM00584,HMMPfam_LysM,superfamily_LysM domain - no_errors 656 12 1.79640718562874 222 190 46.1165048543689 11 7 38.89 +FZD1 0 genome.wustl.edu 37 7 90895745 90895745 + Missense_Mutation SNP G G A TCGA-AB-3009-03A-01D-0739-09 TCGA-AB-3009-11A-01D-0739-09 G G G A G G Verified Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq 1 dbGAP Illumina HiSeq dda8a1d8-dd5b-4640-8f48-a2ef2f4898dc b77c4cc4-b7bb-45b7-8324-70f96f9a3629 7 90733681 90733681 G A SNP FZD1 NM_003505.1 human genbank 54_36p +1 reviewed missense c.1550 p.R517H 1.000 HMMPfam_Frizzled superfamily_Frizzled cysteine-rich domain,HMMPfam_Frizzled,HMMPfam_Fz,HMMSmart_SM00063 - no_errors 576 8 1.36986301369863 242 201 45.372460496614 7 6 46.15 +TSPYL5 0 genome.wustl.edu 37 8 98288903 98288903 + Missense_Mutation SNP C C A TCGA-AB-3009-03A-01D-0739-09 TCGA-AB-3009-11A-01D-0739-09 C C C A C C Verified Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq 1 dbGAP Illumina HiSeq dda8a1d8-dd5b-4640-8f48-a2ef2f4898dc b77c4cc4-b7bb-45b7-8324-70f96f9a3629 8 98358079 98358079 C A SNP TSPYL5 NM_033512.2 human genbank 54_36p -1 validated missense c.1170 p.E390D 0.998 HMMPfam_NAP HMMPfam_NAP - no_errors 1485 11 0.74 406 347 46.08 NA NA NA +VPS13B 0 genome.wustl.edu 37 8 100205130 100205130 + Missense_Mutation SNP C C A TCGA-AB-3009-03A-01D-0739-09 TCGA-AB-3009-11A-01D-0739-09 C C C A C C Verified Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq 1 dbGAP Illumina HiSeq dda8a1d8-dd5b-4640-8f48-a2ef2f4898dc b77c4cc4-b7bb-45b7-8324-70f96f9a3629 8 100274306 100274306 C A SNP VPS13B NM_017890.2 human genbank 54_36p +1 reviewed missense c.2360 p.T787N 1.000 NULL PatternScan_ZINC_PROTEASE - no_errors 937 8 0.85 629 458 42.10 26 18 40.91 +TM7SF4 0 genome.wustl.edu 37 8 105367321 105367321 + Missense_Mutation SNP C C T TCGA-AB-3009-03A-01D-0739-09 TCGA-AB-3009-11A-01D-0739-09 C C C T C C Verified Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq 1 dbGAP Illumina HiSeq dda8a1d8-dd5b-4640-8f48-a2ef2f4898dc b77c4cc4-b7bb-45b7-8324-70f96f9a3629 8 105436497 105436497 C T SNP TM7SF4 NM_030788.2 human genbank 54_36p +1 reviewed missense c.1246 p.R416C 0.698 HMMPfam_DC_STAMP HMMPfam_DC_STAMP - no_errors 1265 5 0.39 294 284 49.05 NA NA NA +BAI1 0 genome.wustl.edu 37 8 143625648 143625648 + Missense_Mutation SNP C C T TCGA-AB-3009-03A-01D-0739-09 TCGA-AB-3009-11A-01D-0739-09 C C C T C C Verified Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq 1 dbGAP Illumina HiSeq dda8a1d8-dd5b-4640-8f48-a2ef2f4898dc b77c4cc4-b7bb-45b7-8324-70f96f9a3629 8 143622650 143622650 C T SNP BAI1 NM_001702.2 human genbank 54_36p +1 reviewed missense c.4625 p.T1542M 0.068 NULL HMMPfam_GPS,HMMSmart_SM00303,HMMPfam_7tm_2,HMMPfam_TSP_1,HMMSmart_SM00209,superfamily_TSP-1 type 1 repeat,HMMPfam_HRM,HMMSmart_SM00008 - no_errors 448 4 0.884955752212389 160 178 52.6627218934911 3 4 57.14 +ARC 0 genome.wustl.edu 37 8 143694874 143694874 + Missense_Mutation SNP C C G TCGA-AB-3009-03A-01D-0739-09 TCGA-AB-3009-11A-01D-0739-09 C C C G C C Verified Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq 1 dbGAP Illumina HiSeq dda8a1d8-dd5b-4640-8f48-a2ef2f4898dc b77c4cc4-b7bb-45b7-8324-70f96f9a3629 8 143691876 143691876 C G SNP ARC NM_015193.3 human genbank 54_36p -1 validated missense c.759 p.W253C 1.000 NULL NULL - no_errors 577 14 2.36886632825719 304 229 42.9643527204503 0 2 100.00 +TONSL 0 genome.wustl.edu 37 8 145668658 145668658 + Missense_Mutation SNP G G A TCGA-AB-3009-03A-01D-0739-09 TCGA-AB-3009-11A-01D-0739-09 G G G A G G Verified Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq 1 dbGAP Illumina HiSeq dda8a1d8-dd5b-4640-8f48-a2ef2f4898dc b77c4cc4-b7bb-45b7-8324-70f96f9a3629 8 145639466 145639466 G A SNP NFKBIL2 ENST00000409379 human ensembl 54_36p -1 known missense c.311 p.T104M 0.004 superfamily_TPR-like HMMPfam_TPR_1,HMMPfam_Ank,HMMSmart_SM00248,superfamily_Ankyrin repeat,HMMSmart_SM00368,HMMSmart_SM00028,superfamily_TPR-like,superfamily_RNI-like - no_errors 588 9 1.50753768844221 301 238 44.1558441558442 19 16 45.71 +LOC727878 0 genome.wustl.edu 37 10 2544120 2544120 + Missense_Mutation SNP C C T TCGA-AB-3009-03A-01D-0739-09 TCGA-AB-3009-11A-01D-0739-09 C C C T C C Verified Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq 1 dbGAP Illumina HiSeq dda8a1d8-dd5b-4640-8f48-a2ef2f4898dc b77c4cc4-b7bb-45b7-8324-70f96f9a3629 10 2534120 2534120 C T SNP LOC727878 XM_001126639.1 human genbank 54_36p -1 model missense c.20 p.R7Q 0.000 NULL NULL - no_errors 1506 9 0.59 554 180 24.42 NA NA NA +ANK3 0 genome.wustl.edu 37 10 61926581 61926581 + Splice_Site SNP C C A TCGA-AB-3009-03A-01D-0739-09 TCGA-AB-3009-11A-01D-0739-09 C C C A C C Verified Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq 1 dbGAP Illumina HiSeq dda8a1d8-dd5b-4640-8f48-a2ef2f4898dc b77c4cc4-b7bb-45b7-8324-70f96f9a3629 10 61596587 61596587 C A SNP ANK3 NM_020987.2 human genbank 54_36p -1 reviewed splice_site c.2551+1 e22+1 1.000 - - - no_errors 1153 16 1.36869118905047 429 337 43.9947780678851 0 1 100.00 +MYEOV 0 genome.wustl.edu 37 11 69063836 69063836 + Missense_Mutation SNP C C A TCGA-AB-3009-03A-01D-0739-09 TCGA-AB-3009-11A-01D-0739-09 C C C A C C Verified Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq 1 dbGAP Illumina HiSeq dda8a1d8-dd5b-4640-8f48-a2ef2f4898dc b77c4cc4-b7bb-45b7-8324-70f96f9a3629 11 68820412 68820412 C A SNP MYEOV NM_138768.2 human genbank 54_36p +1 validated missense c.919 p.L307I 0.000 NULL NULL - no_errors 1287 18 1.38 130 130 50.00 NA NA NA +EED 0 genome.wustl.edu 37 11 85968591 85968591 + Missense_Mutation SNP T T A TCGA-AB-3009-03A-01D-0739-09 TCGA-AB-3009-11A-01D-0739-09 T T T A T T Verified Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq 1 dbGAP Illumina HiSeq dda8a1d8-dd5b-4640-8f48-a2ef2f4898dc b77c4cc4-b7bb-45b7-8324-70f96f9a3629 11 85646239 85646239 T A SNP EED NM_003797.2 human genbank 54_36p +1 reviewed missense c.587 p.L196Q 1.000 HMMSmart_SM00320,superfamily_WD40 repeat-like,HMMPfam_WD40 HMMSmart_SM00320,superfamily_WD40 repeat-like,PatternScan_WD_REPEATS_1,HMMPfam_WD40 - no_errors 662 2 0.30 235 210 47.19 37 31 45.59 +ASIC1 0 genome.wustl.edu 37 12 50452780 50452780 + Silent SNP C C G TCGA-AB-3009-03A-01D-0739-09 TCGA-AB-3009-11A-01D-0739-09 C C C G C C Verified Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq 1 dbGAP Illumina HiSeq dda8a1d8-dd5b-4640-8f48-a2ef2f4898dc b77c4cc4-b7bb-45b7-8324-70f96f9a3629 12 48739047 48739047 C G SNP ACCN2 NM_020039.2 human genbank 54_36p +1 reviewed silent c.231 p.L77 1.000 HMMPfam_ASC HMMPfam_ASC,PatternScan_ASC - no_errors 1572 10 0.63 355 329 48.10 7 2 22.22 +ACSS3 0 genome.wustl.edu 37 12 81536902 81536902 + Missense_Mutation SNP C C T TCGA-AB-3009-03A-01D-0739-09 TCGA-AB-3009-11A-01D-0739-09 C C C T C C Verified Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq 1 dbGAP Illumina HiSeq dda8a1d8-dd5b-4640-8f48-a2ef2f4898dc b77c4cc4-b7bb-45b7-8324-70f96f9a3629 12 80061033 80061033 C T SNP ACSS3 NM_024560.2 human genbank 54_36p +1 validated missense c.797 p.A266V 0.000 HMMPfam_AMP-binding,superfamily_Acetyl-CoA synthetase-like HMMPfam_AMP-binding,PatternScan_AMP_BINDING,superfamily_Acetyl-CoA synthetase-like - no_errors 533 1 0.187265917602996 256 230 47.3251028806584 NA NA NA +AP1G2 0 genome.wustl.edu 37 14 24033309 24033309 + Missense_Mutation SNP C C T TCGA-AB-3009-03A-01D-0739-09 TCGA-AB-3009-11A-01D-0739-09 C C C T C C Verified Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq 1 dbGAP Illumina HiSeq dda8a1d8-dd5b-4640-8f48-a2ef2f4898dc b77c4cc4-b7bb-45b7-8324-70f96f9a3629 14 23103149 23103149 C T SNP AP1G2 NM_003917.2 human genbank 54_36p -1 reviewed missense c.1037 p.R346Q 1.000 HMMPfam_Adaptin_N,superfamily_ARM-type_fold HMMPfam_Adaptin_N,HMMPfam_Alpha_adaptinC2,HMMSmart_Alpha_adaptinC2,superfamily_Clath_adapt,superfamily_ARM-type_fold - no_errors 2568 35 1.34 670 596 47.08 66 74 52.86 +LOC100130041 0 genome.wustl.edu 37 16 34723802 34723802 + RNA SNP C C A TCGA-AB-3009-03A-01D-0739-09 TCGA-AB-3009-11A-01D-0739-09 C C C A C C Verified Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq 1 dbGAP Illumina HiSeq dda8a1d8-dd5b-4640-8f48-a2ef2f4898dc b77c4cc4-b7bb-45b7-8324-70f96f9a3629 16 34581303 34581303 C A SNP LOC100130041 XR_037947.1 human genbank 54_36p +1 model rna NULL NULL 1.000 - - - pseudogene 1486 9 0.602006688963211 723 230 24.1343126967471 NA NA NA +CTCF 0 genome.wustl.edu 37 16 67660469 67660469 + Nonsense_Mutation SNP C C T TCGA-AB-3009-03A-01D-0739-09 TCGA-AB-3009-11A-01D-0739-09 C C C T C C Verified Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq 1 dbGAP Illumina HiSeq dda8a1d8-dd5b-4640-8f48-a2ef2f4898dc b77c4cc4-b7bb-45b7-8324-70f96f9a3629 16 66217970 66217970 C T SNP CTCF NM_006565.2 human genbank 54_36p +1 reviewed nonsense c.1369 p.R457* 1.000 HMMPfam_zf-C2H2,PatternScan_ZINC_FINGER_C2H2_1,HMMSmart_SM00355,superfamily_C2H2 and C2HC zinc fingers HMMPfam_zf-C2H2,PatternScan_ZINC_FINGER_C2H2_1,HMMSmart_SM00355,superfamily_C2H2 and C2HC zinc fingers - no_errors 1876 12 0.64 242 190 43.88 68 15 18.07 +LOC100130734 0 genome.wustl.edu 37 17 17287153 17287153 + Missense_Mutation SNP G G A TCGA-AB-3009-03A-01D-0739-09 TCGA-AB-3009-11A-01D-0739-09 G G G A G G Verified Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq 1 dbGAP Illumina HiSeq dda8a1d8-dd5b-4640-8f48-a2ef2f4898dc b77c4cc4-b7bb-45b7-8324-70f96f9a3629 17 17227878 17227878 G A SNP LOC100130734 XM_001716348.1 human genbank 54_36p +1 model missense c.1078 p.D360N 0.028 NULL NULL - no_errors 163 2 1.21212121212121 63 76 54.6762589928058 1231 0 0.00 +NF1 0 genome.wustl.edu 37 17 29562981 29562981 + Nonsense_Mutation SNP C C T TCGA-AB-3009-03A-01D-0739-09 TCGA-AB-3009-11A-01D-0739-09 C C C T C C Verified Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq 1 dbGAP Illumina HiSeq dda8a1d8-dd5b-4640-8f48-a2ef2f4898dc b77c4cc4-b7bb-45b7-8324-70f96f9a3629 17 26587107 26587107 C T SNP NF1 NM_001042492.2 human genbank 54_36p +1 reviewed nonsense c.3916 p.R1306* 1.000 HMMPfam_RasGAP,HMMSmart_SM00323,superfamily_GTPase activation domain GAP HMMSmart_SM00516,HMMPfam_RasGAP,HMMSmart_SM00323,PatternScan_RAS_GTPASE_ACTIV_1,superfamily_GTPase activation domain GAP - no_errors 769 5 0.64 43 229 84.19 1 16 94.12 +SUZ12 0 genome.wustl.edu 37 17 30293198 30293198 + Missense_Mutation SNP G G A TCGA-AB-3009-03A-01D-0739-09 TCGA-AB-3009-11A-01D-0739-09 G G G A G G Verified Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq 1 dbGAP Illumina HiSeq dda8a1d8-dd5b-4640-8f48-a2ef2f4898dc b77c4cc4-b7bb-45b7-8324-70f96f9a3629 17 27317311 27317311 G A SNP SUZ12 NM_015355.2 human genbank 54_36p +1 reviewed missense c.488 p.G163D 1.000 NULL PatternScan_ZINC_FINGER_C2H2_1,HMMSmart_ZnF_C2H2,HMMPfam_VEFS-Box - no_errors 389 7 1.76767676767677 10 86 89.5833333333333 4 54 93.10 +KANSL1 0 genome.wustl.edu 37 17 44108923 44108923 + Silent SNP C C T TCGA-AB-3009-03A-01D-0739-09 TCGA-AB-3009-11A-01D-0739-09 C C C T C C Verified Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq 1 dbGAP Illumina HiSeq dda8a1d8-dd5b-4640-8f48-a2ef2f4898dc b77c4cc4-b7bb-45b7-8324-70f96f9a3629 17 41464770 41464770 C T SNP KIAA1267 NM_015443.2 human genbank 54_36p -1 validated silent c.3237 p.A1079 0.003 NULL NULL - no_errors 1127 12 1.05 296 296 49.83 25 36 59.02 +LOC100132903 0 genome.wustl.edu 37 17 46801726 46801726 + Missense_Mutation SNP G G T TCGA-AB-3009-03A-01D-0739-09 TCGA-AB-3009-11A-01D-0739-09 G G G T G G Verified Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq 1 dbGAP Illumina HiSeq dda8a1d8-dd5b-4640-8f48-a2ef2f4898dc b77c4cc4-b7bb-45b7-8324-70f96f9a3629 17 44156725 44156725 G T SNP LOC100132903 XM_001726558.1 human genbank 54_36p +1 model missense c.104 p.G35V 0.000 NULL NULL - no_errors 608 2 0.33 151 135 47.20 NA NA NA +CILP2 0 genome.wustl.edu 37 19 19650501 19650501 + Silent SNP C C T TCGA-AB-3009-03A-01D-0739-09 TCGA-AB-3009-11A-01D-0739-09 C C C T C C Verified Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq 1 dbGAP Illumina HiSeq dda8a1d8-dd5b-4640-8f48-a2ef2f4898dc b77c4cc4-b7bb-45b7-8324-70f96f9a3629 19 19511501 19511501 C T SNP CILP2 NM_153221.2 human genbank 54_36p +1 validated silent c.78 p.T26 0.003 NULL HMMPfam_TSP_1,HMMSmart_TSP1,superfamily_TSP1,HMMSmart_IGc2,superfamily_CarboxypepD_reg,HMMPfam_I-set,superfamily_SSF48726 - no_errors 434 13 2.9082774049217 211 153 42.032967032967 NA NA NA +FFAR1 0 genome.wustl.edu 37 19 35843150 35843150 + Silent SNP G G A TCGA-AB-3009-03A-01D-0739-09 TCGA-AB-3009-11A-01D-0739-09 G G G A G G Verified Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq 1 dbGAP Illumina HiSeq dda8a1d8-dd5b-4640-8f48-a2ef2f4898dc b77c4cc4-b7bb-45b7-8324-70f96f9a3629 19 40534990 40534990 G A SNP FFAR1 NM_005303.1 human genbank 54_36p +1 provisional silent c.696 p.T232 0.663 HMMPfam_7tm_1,superfamily_SSF81321 HMMPfam_7tm_1,PatternScan_G_PROTEIN_RECEP_F1_1,superfamily_SSF81321 - no_errors 328 3 0.906344410876133 167 148 46.984126984127 NA NA NA +SHANK1 0 genome.wustl.edu 37 19 51165404 51165404 + Missense_Mutation SNP C C T TCGA-AB-3009-03A-01D-0739-09 TCGA-AB-3009-11A-01D-0739-09 C C C T C C Verified Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq 1 dbGAP Illumina HiSeq dda8a1d8-dd5b-4640-8f48-a2ef2f4898dc b77c4cc4-b7bb-45b7-8324-70f96f9a3629 19 55857216 55857216 C T SNP SHANK1 NM_016148.2 human genbank 54_36p -1 validated missense c.6304 p.D2102N 1.000 HMMPfam_SAM_1,HMMSmart_SM00454,superfamily_SAM/Pointed domain HMMSmart_SM00326,superfamily_SH3-domain,HMMPfam_PDZ,HMMSmart_SM00228,superfamily_PDZ domain-like,HMMPfam_SAM_1,HMMSmart_SM00454,HMMPfam_Ank,HMMSmart_SM00248,superfamily_Ankyrin repeat,superfamily_SAM/Pointed domain,HMMPfam_SH3_2 - no_errors 1108 1 0.09 265 199 42.89 6 5 45.45 +ZNF677 0 genome.wustl.edu 37 19 53740371 53740371 + Missense_Mutation SNP G G T TCGA-AB-3009-03A-01D-0739-09 TCGA-AB-3009-11A-01D-0739-09 G G G T G G Verified Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq 1 dbGAP Illumina HiSeq dda8a1d8-dd5b-4640-8f48-a2ef2f4898dc b77c4cc4-b7bb-45b7-8324-70f96f9a3629 19 58432183 58432183 G T SNP ZNF677 NM_182609.2 human genbank 54_36p -1 provisional missense c.1609 p.H537N 0.931 HMMPfam_zf-C2H2,PatternScan_ZINC_FINGER_C2H2_1,HMMSmart_ZnF_C2H2,superfamily_SSF57667 HMMPfam_KRAB,HMMSmart_KRAB,superfamily_Krueppel-associated_box,HMMPfam_zf-C2H2,PatternScan_ZINC_FINGER_C2H2_1,HMMSmart_ZnF_C2H2,superfamily_SSF57667 - no_errors 555 5 0.892857142857143 223 150 40.2144772117962 0 1 100.00 +GDF5 0 genome.wustl.edu 37 20 34022055 34022055 + Silent SNP A A T TCGA-AB-3009-03A-01D-0739-09 TCGA-AB-3009-11A-01D-0739-09 A A A T A A Verified Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq 1 dbGAP Illumina HiSeq dda8a1d8-dd5b-4640-8f48-a2ef2f4898dc b77c4cc4-b7bb-45b7-8324-70f96f9a3629 20 33485469 33485469 A T SNP GDF5 NM_000557.2 human genbank 54_36p -1 reviewed silent c.1158 p.T386 0.507 NULL HMMPfam_TGFb_propeptide,HMMPfam_TGF_beta,HMMSmart_TGFB,PatternScan_TGF_BETA_1,superfamily_SSF57501 - no_errors 256 4 1.53846153846154 114 86 43 0 0 0.00 +TTN 0 genome.wustl.edu 37 2 179472757 179472758 + In_Frame_Ins INS - - GAC TCGA-AB-3009-03A-01D-0739-09 TCGA-AB-3009-11A-01D-0739-09 - - - GAC - - Verified Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq 1 dbGAP Illumina HiSeq dda8a1d8-dd5b-4640-8f48-a2ef2f4898dc b77c4cc4-b7bb-45b7-8324-70f96f9a3629 2 179181002 179181003 - GAC INS TTN ENST00000375038 human ensembl 54_36p -1 known in_frame_ins c.40703_40702 p.I13568in_frame_insSL 1.000:1.000 HMMPfam_fn3,HMMSmart_SM00060,superfamily_Fibronectin type III,superfamily_Concanavalin A-like lectins/glucanases,superfamily_WD40 repeat-like,superfamily_vWA-like,superfamily_Positive stranded ssRNA viruses HMMSmart_SM00219,HMMSmart_SM00220,PatternScan_IG_MHC,HMMSmart_SM00406,HMMSmart_SM00408,HMMSmart_SM00409,HMMPfam_fn3,HMMSmart_SM00060,HMMPfam_PPAK,PatternScan_PROTEIN_KINASE_TYR,superfamily_Fibronectin type III,superfamily_Concanavalin A-like lectins/glucanases,superfamily_Protein kinase-like (PK-like),superfamily_WD40 repeat-like,HMMPfam_I-set,HMMPfam_ig,HMMPfam_Titin_Z,HMMPfam_Pkinase,PatternScan_FGGY_KINASES_1,PatternScan_PEROXIDASE_1,superfamily_Immunoglobulin,superfamily_vWA-like,superfamily_Positive stranded ssRNA viruses - no_errors 978 7 0.71 411 285 40.95 11 0 0.00 +WAC 0 genome.wustl.edu 37 10 28824670 28824671 + Frame_Shift_Ins INS - - AGGGC TCGA-AB-3009-03A-01D-0739-09 TCGA-AB-3009-11A-01D-0739-09 - - - AGGGC - - Verified Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq 1 dbGAP Illumina HiSeq dda8a1d8-dd5b-4640-8f48-a2ef2f4898dc b77c4cc4-b7bb-45b7-8324-70f96f9a3629 10 28864676 28864677 - AGGGC INS WAC NM_016628.3 human genbank 54_36p +1 reviewed frame_shift_ins c.258_259 p.E87fs 1.000:1.000 NULL HMMPfam_WW,HMMSmart_SM00456,PatternScan_WW_DOMAIN_1,superfamily_WW domain - no_errors 902 14 1.52838427947598 308 289 48.4087102177554 NA NA NA +WT1 0 genome.wustl.edu 37 11 32417909 32417910 + Frame_Shift_Ins INS - - GACCG TCGA-AB-3009-03A-01D-0739-09 TCGA-AB-3009-11A-01D-0739-09 - - - GACCG - - Verified Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq 1 dbGAP Illumina HiSeq dda8a1d8-dd5b-4640-8f48-a2ef2f4898dc b77c4cc4-b7bb-45b7-8324-70f96f9a3629 11 32374485 32374486 - GACCG INS WT1 NM_024426.3 human genbank 54_36p -1 reviewed frame_shift_ins c.1143_1142 p.A382fs 0.771:0.996 HMMPfam_WT1 HMMPfam_WT1,HMMPfam_zf-C2H2,PatternScan_ZINC_FINGER_C2H2_1,HMMSmart_SM00355,superfamily_C2H2 and C2HC zinc fingers - no_errors 474 2 0.420168067226891 284 198 41.0788381742739 NA NA NA +LOC387761 0 genome.wustl.edu 37 11 42275262 42275262 + Frame_Shift_Del DEL A A - TCGA-AB-3009-03A-01D-0739-09 TCGA-AB-3009-11A-01D-0739-09 A A A - A A Verified Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq 1 dbGAP Illumina HiSeq dda8a1d8-dd5b-4640-8f48-a2ef2f4898dc b77c4cc4-b7bb-45b7-8324-70f96f9a3629 11 42231838 42231838 A - DEL LOC387761 XM_373495.1 human genbank 54_36p -1 model frame_shift_del c.184 p.S62fs 0.003 NULL NULL - no_errors 623 24 3.70 322 251 43.20 0 0 0.00 +NUMA1 0 genome.wustl.edu 37 11 71724450 71724451 + Frame_Shift_Ins INS - - CCCC TCGA-AB-3009-03A-01D-0739-09 TCGA-AB-3009-11A-01D-0739-09 - - - CCCC - - Verified Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq 1 dbGAP Illumina HiSeq dda8a1d8-dd5b-4640-8f48-a2ef2f4898dc b77c4cc4-b7bb-45b7-8324-70f96f9a3629 11 71402098 71402099 - CCCC INS NUMA1 NM_006185.2 human genbank 54_36p -1 validated frame_shift_ins c.4099_4098 p.C1366fs 0.996:0.977 NULL superfamily_Prefoldin - no_errors 264 3 1.12359550561798 120 69 36.5079365079365 NA NA NA +DNM2 0 genome.wustl.edu 37 19 10909237 10909238 + Frame_Shift_Ins INS - - GCCATCGT TCGA-AB-3009-03A-01D-0739-09 TCGA-AB-3009-11A-01D-0739-09 - - - GCCATCGT - - Verified Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq 1 dbGAP Illumina HiSeq dda8a1d8-dd5b-4640-8f48-a2ef2f4898dc b77c4cc4-b7bb-45b7-8324-70f96f9a3629 19 10770237 10770238 - GCCATCGT INS DNM2 NM_001005360.1 human genbank 54_36p +1 reviewed frame_shift_ins c.1411_1412 p.T471fs 1.000:1.000 HMMPfam_Dynamin_M HMMPfam_Dynamin_M,HMMPfam_Dynamin_N,HMMSmart_SM00053,HMMPfam_PH,HMMSmart_SM00233,HMMPfam_GED,HMMSmart_SM00302,PatternScan_DYNAMIN,superfamily_PH domain-like,superfamily_P-loop containing nucleoside triphosphate hydrolases - no_errors 457 5 1.08225108225108 246 147 37.4045801526718 NA NA NA +RUNX1 0 genome.wustl.edu 37 21 36252869 36252870 + Frame_Shift_Ins INS - - GGCTA TCGA-AB-3009-03A-01D-0739-09 TCGA-AB-3009-11A-01D-0739-09 - - - GGCTA - - Verified Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq 1 dbGAP Illumina HiSeq dda8a1d8-dd5b-4640-8f48-a2ef2f4898dc b77c4cc4-b7bb-45b7-8324-70f96f9a3629 21 35174739 35174740 - GGCTA INS RUNX1 NM_001754.2 human genbank 54_36p -1 reviewed frame_shift_ins c.493_492 p.G164fs 1.000:1.000 superfamily_p53-like transcription factors,HMMPfam_Runt superfamily_p53-like transcription factors,HMMPfam_Runt,HMMPfam_RunxI - no_errors 532 6 1.11524163568773 306 188 38.0566801619433 NA NA NA +NONO 0 genome.wustl.edu 37 X 70511697 70511697 + Missense_Mutation SNP C C A TCGA-AB-3011-03A-01D-0739-09 TCGA-AB-3011-11A-01D-0739-09 C C C A C C Verified Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq 1 dbGAP Illumina HiSeq fc2d6c31-dadb-45cb-9053-c87f535a77a5 53089a3e-4b9f-4c04-ac13-b972213961f1 X 70428422 70428422 C A SNP NONO NM_007363.1 human genbank 54_36p +1 reviewed missense c.223 p.R75S 1.000 HMMSmart_SM00360,superfamily_RNA-binding domain RBD HMMPfam_RRM_1,HMMSmart_SM00360,HMMPfam_NOPS,superfamily_RNA-binding domain RBD - no_errors 215 4 1.83 132 40 23.26 71 87 55.06 +OR1C1 0 genome.wustl.edu 37 1 247921142 247921142 + Silent SNP G G A TCGA-AB-3011-03A-01D-0739-09 TCGA-AB-3011-11A-01D-0739-09 G G G A G G Verified Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq 1 dbGAP Illumina HiSeq fc2d6c31-dadb-45cb-9053-c87f535a77a5 53089a3e-4b9f-4c04-ac13-b972213961f1 1 245987765 245987765 G A SNP OR1C1 NM_012353.2 human genbank 54_36p -1 validated silent c.567 p.C189 0.993 HMMPfam_7tm_1,superfamily_Family A G protein-coupled receptor-like HMMPfam_7tm_1,PatternScan_G_PROTEIN_RECEP_F1_1,superfamily_Family A G protein-coupled receptor-like - no_errors 926 26 2.73 423 310 42.23 NA NA NA +IDH1 0 genome.wustl.edu 37 2 209113113 209113113 + Missense_Mutation SNP G G T rs121913499 TCGA-AB-3011-03A-01D-0739-09 TCGA-AB-3011-11A-01D-0739-09 G G G T G G Verified Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq 1 dbGAP Illumina HiSeq fc2d6c31-dadb-45cb-9053-c87f535a77a5 53089a3e-4b9f-4c04-ac13-b972213961f1 2 208821358 208821358 G T SNP IDH1 NM_005896.2 human genbank 54_36p -1 reviewed missense c.394 p.R132S 1.000 HMMPfam_Iso_dh,superfamily_Isocitrate/Isopropylmalate dehydrogenase-like HMMPfam_Iso_dh,PatternScan_IDH_IMDH,superfamily_Isocitrate/Isopropylmalate dehydrogenase-like - no_errors 308 7 2.22 204 119 36.84 29 43 59.72 +GTF3A 0 genome.wustl.edu 37 13 28008981 28008981 + Missense_Mutation SNP G G A TCGA-AB-3011-03A-01D-0739-09 TCGA-AB-3011-11A-01D-0739-09 G G G A G G Verified Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq 1 dbGAP Illumina HiSeq fc2d6c31-dadb-45cb-9053-c87f535a77a5 53089a3e-4b9f-4c04-ac13-b972213961f1 13 26906981 26906981 G A SNP GTF3A ENST00000381140 human ensembl 54_36p +1 known missense c.854 p.R285H 1.000 HMMPfam_zf-C2H2,PatternScan_ZINC_FINGER_C2H2_1,HMMSmart_SM00355,superfamily_C2H2 and C2HC zinc fingers HMMPfam_zf-C2H2,PatternScan_ZINC_FINGER_C2H2_1,HMMSmart_SM00355,superfamily_C2H2 and C2HC zinc fingers - no_errors 876 34 3.74 361 245 40.43 127 199 61.04 +WNK4 0 genome.wustl.edu 37 17 40940390 40940390 + Missense_Mutation SNP C C T TCGA-AB-3011-03A-01D-0739-09 TCGA-AB-3011-11A-01D-0739-09 C C C T C C Verified Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq 1 dbGAP Illumina HiSeq fc2d6c31-dadb-45cb-9053-c87f535a77a5 53089a3e-4b9f-4c04-ac13-b972213961f1 17 38193916 38193916 C T SNP WNK4 NM_032387.3 human genbank 54_36p +1 validated missense c.2005 p.R669W 0.975 NULL HMMSmart_SM00219,HMMSmart_SM00220,PatternScan_PROTEIN_KINASE_ST,superfamily_Protein kinase-like (PK-like),HMMPfam_Pkinase - no_errors 201 14 6.48 144 110 43.14 NA NA NA +TRPM4 0 genome.wustl.edu 37 19 49705260 49705260 + Missense_Mutation SNP G G A TCGA-AB-3011-03A-01D-0739-09 TCGA-AB-3011-11A-01D-0739-09 G G G A G G Verified Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq 1 dbGAP Illumina HiSeq fc2d6c31-dadb-45cb-9053-c87f535a77a5 53089a3e-4b9f-4c04-ac13-b972213961f1 19 54397072 54397072 G A SNP TRPM4 NM_017636.2 human genbank 54_36p +1 provisional missense c.2993 p.G998D 0.061 HMMPfam_Ion_trans HMMPfam_Ion_trans - no_errors 65 4 5.80 90 69 43.12 NA NA NA +NPM1 0 genome.wustl.edu 37 5 170837547 170837548 + Frame_Shift_Ins INS - - TCTG TCGA-AB-3011-03A-01D-0739-09 TCGA-AB-3011-11A-01D-0739-09 - - - TCTG - - Verified Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq 1 dbGAP Illumina HiSeq fc2d6c31-dadb-45cb-9053-c87f535a77a5 53089a3e-4b9f-4c04-ac13-b972213961f1 5 170770152 170770153 - TCTG INS NPM1 NM_002520.1 human genbank 54_36p +1 validated frame_shift_ins c.863_864 p.W288fs 1.000:1.000 NULL HMMPfam_Nucleoplasmin,superfamily_Nucleoplasmin-like core domain - no_errors NA NA NA NA NA NA NA NA NA +CYLC1 0 genome.wustl.edu 37 X 83128705 83128705 + Missense_Mutation SNP C C A TCGA-AB-3012-03A-01D-0739-09 TCGA-AB-3012-11A-01D-0739-09 C C C A C C Verified Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq 1 dbGAP Illumina HiSeq 1ea97951-9a33-48eb-b1da-eab8566781bf 673432d1-fa29-474c-a1f2-b042f2a57cdb X 83015361 83015361 C A SNP CYLC1 NM_021118.1 human genbank 54_36p +1 provisional missense c.989 p.T330K 0.027 NULL NULL - no_errors 809 2 0.25 96 734 88.43 NA NA NA +CADM2 0 genome.wustl.edu 37 3 86114809 86114809 + Missense_Mutation SNP T T G TCGA-AB-3012-03A-01D-0739-09 TCGA-AB-3012-11A-01D-0739-09 T T T G T T Verified Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq 1 dbGAP Illumina HiSeq 1ea97951-9a33-48eb-b1da-eab8566781bf 673432d1-fa29-474c-a1f2-b042f2a57cdb 3 86197499 86197499 T G SNP CADM2 NM_153184.2 human genbank 54_36p +1 validated missense c.1124 p.I375R 1.000 NULL HMMSmart_4.1m,HMMSmart_IGc2,HMMSmart_IG,HMMPfam_V-set,HMMPfam_ig,HMMPfam_C2-set_2,superfamily_SSF48726 - no_errors 953 3 0.31 500 378 42.95 NA NA NA +FRYL 0 genome.wustl.edu 37 4 48577210 48577210 + Missense_Mutation SNP T T C TCGA-AB-3012-03A-01D-0739-09 TCGA-AB-3012-11A-01D-0739-09 T T T C T T Verified Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq 1 dbGAP Illumina HiSeq 1ea97951-9a33-48eb-b1da-eab8566781bf 673432d1-fa29-474c-a1f2-b042f2a57cdb 4 48271967 48271967 T C SNP FRYL NM_015030.1 human genbank 54_36p -1 validated missense c.2770 p.M924V 1.000 superfamily_ARM repeat superfamily_ARM repeat - no_errors 390 0 0.00 582 308 34.61 18 11 37.93 +GANC 0 genome.wustl.edu 37 15 42641596 42641596 + Missense_Mutation SNP G G A TCGA-AB-3012-03A-01D-0739-09 TCGA-AB-3012-11A-01D-0739-09 G G G A G G Verified Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq 1 dbGAP Illumina HiSeq 1ea97951-9a33-48eb-b1da-eab8566781bf 673432d1-fa29-474c-a1f2-b042f2a57cdb 15 40428888 40428888 G A SNP GANC NM_198141.2 human genbank 54_36p +1 reviewed missense c.2434 p.E812K 1.000 NULL HMMPfam_Glyco_hydro_31,PatternScan_GLYCOSYL_HYDROL_F31_1,superfamily_(Trans)glycosidases - no_errors 1453 0 0.00 962 691 41.80 18 4 18.18 +DHX34 0 genome.wustl.edu 37 19 47876160 47876160 + Missense_Mutation SNP G G A TCGA-AB-3012-03A-01D-0739-09 TCGA-AB-3012-11A-01D-0739-09 G G G A G G Verified Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq 1 dbGAP Illumina HiSeq 1ea97951-9a33-48eb-b1da-eab8566781bf 673432d1-fa29-474c-a1f2-b042f2a57cdb 19 52567974 52567974 G A SNP DHX34 NM_014681.4 human genbank 54_36p +1 reviewed missense c.1942 p.V648I 0.984 NULL HMMPfam_Helicase_C,HMMSmart_SM00490,HMMPfam_HA2,HMMPfam_DUF1605,HMMSmart_SM00487,PatternScan_RUBREDOXIN,superfamily_P-loop containing nucleoside triphosphate hydrolases - no_errors 203 0 0.00 87 67 43.51 8 1 11.11 +TOP3B 0 genome.wustl.edu 37 22 22324724 22324724 + Missense_Mutation SNP C C T TCGA-AB-3012-03A-01D-0739-09 TCGA-AB-3012-11A-01D-0739-09 C C C T C C Verified Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq 1 dbGAP Illumina HiSeq 1ea97951-9a33-48eb-b1da-eab8566781bf 673432d1-fa29-474c-a1f2-b042f2a57cdb 22 20654724 20654724 C T SNP TOP3B NM_003935.3 human genbank 54_36p -1 reviewed missense c.439 p.V147M 0.984 superfamily_Prokaryotic type I DNA topoisomerase,HMMSmart_SM00436,HMMPfam_Toprim PatternScan_TOPOISOMERASE_I_PROK,superfamily_Prokaryotic type I DNA topoisomerase,HMMSmart_SM00436,HMMSmart_SM00437,HMMSmart_SM00493,HMMPfam_Toprim,HMMPfam_Topoisom_bac - no_errors 596 0 0.00 265 187 41.37 15 15 50.00 +EWSR1 0 genome.wustl.edu 37 22 29688596 29688596 + Splice_Site SNP G G T TCGA-AB-3012-03A-01D-0739-09 TCGA-AB-3012-11A-01D-0739-09 G G G T G G Verified Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq 1 dbGAP Illumina HiSeq 1ea97951-9a33-48eb-b1da-eab8566781bf 673432d1-fa29-474c-a1f2-b042f2a57cdb 22 28018596 28018596 G T SNP EWSR1 NM_005243.2 human genbank 54_36p +1 reviewed splice_site c.1164+1 e11+1 1.000 - - - no_errors 1118 0 0.00 753 176 18.95 13 9 26.47 +ETV6 0 genome.wustl.edu 37 12 11992221 11992233 + Frame_Shift_Del DEL ATCGATCTCCTCA ATCGATCTCCTCA - TCGA-AB-3012-03A-01D-0739-09 TCGA-AB-3012-11A-01D-0739-09 ATCGATCTCCTCA ATCGATCTCCTCA ATCGATCTCCTCA - ATCGATCTCCTCA ATCGATCTCCTCA Verified Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq 1 dbGAP Illumina HiSeq 1ea97951-9a33-48eb-b1da-eab8566781bf 673432d1-fa29-474c-a1f2-b042f2a57cdb 12 11883488 11883500 ATCGATCTCCTCA - DEL ETV6 NM_001987.4 human genbank 54_36p +1 reviewed frame_shift_del c.311_323 p.Y104fs 0.995:0.881:0.929:0.995:0.992:1.000:1.000:1.000:1.000:1.000:0.984:1.000:1.000 HMMPfam_SAM_PNT,HMMSmart_SM00251,superfamily_SAM/Pointed domain HMMPfam_Ets,HMMSmart_SM00413,PatternScan_ETS_DOMAIN_2,HMMPfam_SAM_PNT,HMMSmart_SM00251,superfamily_SAM/Pointed domain,superfamily_"Winged helix" DNA-binding domain - no_errors NA NA NA NA NA NA NA NA NA +SRRM2 0 genome.wustl.edu 37 16 2812699 2812700 + Frame_Shift_Ins INS - - TC TCGA-AB-3012-03A-01D-0739-09 TCGA-AB-3012-11A-01D-0739-09 - - - TC - - Verified Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq 1 dbGAP Illumina HiSeq 1ea97951-9a33-48eb-b1da-eab8566781bf 673432d1-fa29-474c-a1f2-b042f2a57cdb 16 2752700 2752701 - TC INS SRRM2 NM_016333.3 human genbank 54_36p +1 validated frame_shift_ins c.2170_2171 p.S724fs 1.000:1.000 NULL HMMPfam_cwf21 - no_errors 1993 0 0.00 1128 634 35.98 430 227 34.55
--- /dev/null Thu Jan 01 00:00:00 1970 +0000 +++ b/maftools/titv.R Wed Nov 30 15:17:58 2016 -0500 @@ -0,0 +1,27 @@ +require(maftools); +library(argparse); + +### + +parser <- ArgumentParser(description="Create a Gene Lollipop using Maftools"); + +parser$add_argument( + "--input_maf", "-maf", + required="True", + help="Input Variants in MAF format" + ); + +parser$add_argument( + "--output_pdf", "-o", + required="True", + help="Output directory to store gene plots" + ) + +args <- parser$parse_args(); + +### + +laml = read.maf(maf = args$input_maf, removeSilent = T, useAll = T) +pdf(args$output_pdf) +titv(maf = laml, useSyn=T) +dev.off()
--- /dev/null Thu Jan 01 00:00:00 1970 +0000 +++ b/maftools/titv.xml Wed Nov 30 15:17:58 2016 -0500 @@ -0,0 +1,50 @@ +<tool id="titv" name="Transition Transversion Plot" version="0.9.30"> + + <description> + visualizes base change transitions and transversions + </description> + + <command detect_errors="aggressive"> + + Rscript $__tool_directory__/titv.R + --input_maf $input_maf + --output_pdf $output; + + </command> + + <inputs> + <param type="data" format="maf" name="input_maf" label="MAF File"/> + </inputs> + + <outputs> + <data format="pdf" name="output"/> + </outputs> + <citations> + <citation type="bibtex"> + @article {Albuquerque089631, + author = {Albuquerque, Marco A and Grande, Bruno M and Ritch, Elie and Jessa, Selin and Krzywinski, Martin I and Grewal, Jasleen and Shah, Sohrab and Boutros, Paul and Morin, Ryan}, + title = {Enhancing Knowledge Discovery from Cancer Genomics Data with Galaxy}, + year = {2016}, + doi = {10.1101/089631}, + publisher = {Cold Spring Harbor Labs Journals}, + URL = {http://biorxiv.org/content/early/2016/11/26/089631}, + eprint = {http://biorxiv.org/content/early/2016/11/26/089631.full.pdf}, + journal = {bioRxiv} + } + + </citation> + <citation type="bibtex"> + @misc{ + goecks2010galaxy, + title={Galaxy: a comprehensive approach for supporting accessible, reproducible, and transparent computational research in the life sciences}, + author={Goecks, Jeremy and Nekrutenko, Anton and Taylor, James and others}, + journal={Genome Biol}, + volume={11}, + number={8}, + pages={R86}, + year={2010} + } + </citation> + <citation type="doi">10.1101/052662</citation> + </citations> +</tool>
--- /dev/null Thu Jan 01 00:00:00 1970 +0000 +++ b/maftools/tool_data_table_conf.xml.sample Wed Nov 30 15:17:58 2016 -0500 @@ -0,0 +1,6 @@ +<tables> + <table name="fasta_indexes" comment_char="#"> + <columns>value, dbkey, name, path</columns> + <file path="tool-data/all_fasta.loc"/> + </table> +</tables>
--- /dev/null Thu Jan 01 00:00:00 1970 +0000 +++ b/maftools/trisig.R Wed Nov 30 15:17:58 2016 -0500 @@ -0,0 +1,36 @@ +require(maftools); +library(argparse); +library(NMF); + +### + +parser <- ArgumentParser(description="Create a Gene Lollipop using Maftools"); + +parser$add_argument( + "--input_maf", "-maf", + required="True", + help="Input Variants in MAF format" + ); + +parser$add_argument( + "--genome", "-g", + required="True", + help="Reference Genome" + ) + +parser$add_argument( + "--output_pdf", "-o", + required="True", + help="Output directory to store gene plots" + ) + +args <- parser$parse_args(); + +### + +laml = read.maf(maf = args$input_maf, removeSilent = T, useAll = T) +tnm = trinucleotideMatrix(maf = laml, ref_genome = args$genome, prefix = '', add = T, useSyn = T) +sig = extractSignatures(mat = tnm) +pdf(args$output_pdf) +plotSignatures(nmfRes = sig) +dev.off()
--- /dev/null Thu Jan 01 00:00:00 1970 +0000 +++ b/maftools/trisig.xml Wed Nov 30 15:17:58 2016 -0500 @@ -0,0 +1,67 @@ +<tool id="trisig" name="Trinucleotide Signature Plots" version="0.9.30"> + + <description> + generate novel and known trinucleotide signatures for a cohort + </description> + + <command detect_errors="aggressive"> + + Rscript $__tool_directory__/trisig.R + --input_maf $input_maf + #if $reference_source.reference_source_selector.value == "cached": + --genome ${reference_source.ref_file.fields.path} + #else: + --genome $reference_source.ref_file + #end if + --output_pdf $output; + + </command> + <inputs> + <conditional name="reference_source"> + <param label="Choose the source for the reference genome" name="reference_source_selector" type="select"> + <option value="cached">Use a built-in genome</option> + <option value="history">Use a genome from the history</option> + </param> + <when value="cached"> + <param label="Reference Genome File" name="ref_file" type="select"> + <options from_data_table="fasta_indexes"/> + </param> + </when> + <when value="history"> + <param label="Reference Genome File" name="ref_file" type="data" format="fasta"/> + </when> + </conditional> + <param type="data" format="maf" name="input_maf" label="MAF File"/> + </inputs> + <outputs> + <data format="pdf" name="output"/> + </outputs> + <citations> + <citation type="bibtex"> + @article {Albuquerque089631, + author = {Albuquerque, Marco A and Grande, Bruno M and Ritch, Elie and Jessa, Selin and Krzywinski, Martin I and Grewal, Jasleen and Shah, Sohrab and Boutros, Paul and Morin, Ryan}, + title = {Enhancing Knowledge Discovery from Cancer Genomics Data with Galaxy}, + year = {2016}, + doi = {10.1101/089631}, + publisher = {Cold Spring Harbor Labs Journals}, + URL = {http://biorxiv.org/content/early/2016/11/26/089631}, + eprint = {http://biorxiv.org/content/early/2016/11/26/089631.full.pdf}, + journal = {bioRxiv} + } + + </citation> + <citation type="bibtex"> + @misc{ + goecks2010galaxy, + title={Galaxy: a comprehensive approach for supporting accessible, reproducible, and transparent computational research in the life sciences}, + author={Goecks, Jeremy and Nekrutenko, Anton and Taylor, James and others}, + journal={Genome Biol}, + volume={11}, + number={8}, + pages={R86}, + year={2010} + } + </citation> + <citation type="doi">10.1101/052662</citation> + </citations> +</tool>