#version 2.4
## 
## Oncotator v1.8.0.0 | Flat File Reference hg19 | GENCODE v19 EFFECT | UniProt_AAxform 2014_12 | ClinVar 12.03.20 | ESP 6500SI-V2 | ORegAnno UCSC Track | dbSNP build 142 | CCLE_By_GP 09292010 | COSMIC v62_291112 | 1000gp3 20130502 | UniProt_AA 2014_12 | dbNSFP v2.4 | ESP 6500SI-V2 | COSMIC_FusionGenes v62_291112 | gencode_xref_refseq metadata_v19 | CCLE_By_Gene 09292010 | ACHILLES_Lineage_Results 110303 | CGC full_2012-03-15 | UniProt 2014_12 | HumanDNARepairGenes 20110905 | HGNC Sept172014 | COSMIC_Tissue 291112 | Familial_Cancer_Genes 20110905 | TUMORScape 20100104 | Ensembl ICGC MUCOPA | TCGAScape 110405 | MutSig Published Results 20110905 
Hugo_Symbol	Entrez_Gene_Id	Center	NCBI_Build	Chromosome	Start_position	End_position	Strand	Variant_Classification	Variant_Type	Reference_Allele	Tumor_Seq_Allele1	Tumor_Seq_Allele2	dbSNP_RS	dbSNP_Val_Status	Tumor_Sample_Barcode	Matched_Norm_Sample_Barcode	Match_Norm_Seq_Allele1	Match_Norm_Seq_Allele2	Tumor_Validation_Allele1	Tumor_Validation_Allele2	Match_Norm_Validation_Allele1	Match_Norm_Validation_Allele2	Verification_Status	Validation_Status	Mutation_Status	Sequencing_Phase	Sequence_Source	Validation_Method	Score	BAM_file	Sequencer	Tumor_Sample_UUID	Matched_Norm_Sample_UUID	Genome_Change	Annotation_Transcript	Transcript_Strand	Transcript_Exon	Transcript_Position	cDNA_Change	Codon_Change	Protein_Change	Other_Transcripts	Refseq_mRNA_Id	Refseq_prot_Id	SwissProt_acc_Id	SwissProt_entry_Id	Description	UniProt_AApos	UniProt_Region	UniProt_Site	UniProt_Natural_Variations	UniProt_Experimental_Info	GO_Biological_Process	GO_Cellular_Component	GO_Molecular_Function	COSMIC_overlapping_mutations	COSMIC_fusion_genes	COSMIC_tissue_types_affected	COSMIC_total_alterations_in_gene	Tumorscape_Amplification_Peaks	Tumorscape_Deletion_Peaks	TCGAscape_Amplification_Peaks	TCGAscape_Deletion_Peaks	DrugBank	ref_context	gc_content	CCLE_ONCOMAP_overlapping_mutations	CCLE_ONCOMAP_total_mutations_in_gene	CGC_Mutation_Type	CGC_Translocation_Partner	CGC_Tumor_Types_Somatic	CGC_Tumor_Types_Germline	CGC_Other_Diseases	DNARepairGenes_Role	FamilialCancerDatabase_Syndromes	MUTSIG_Published_Results	OREGANNO_ID	OREGANNO_Values	i_1000gp3_AA	i_1000gp3_AC	i_1000gp3_AF	i_1000gp3_AFR_AF	i_1000gp3_AMR_AF	i_1000gp3_AN	i_1000gp3_CIEND	i_1000gp3_CIPOS	i_1000gp3_CS	i_1000gp3_DP	i_1000gp3_EAS_AF	i_1000gp3_END	i_1000gp3_EUR_AF	i_1000gp3_IMPRECISE	i_1000gp3_MC	i_1000gp3_MEINFO	i_1000gp3_MEND	i_1000gp3_MLEN	i_1000gp3_MSTART	i_1000gp3_NS	i_1000gp3_SAS_AF	i_1000gp3_SVLEN	i_1000gp3_SVTYPE	i_1000gp3_TSD	i_ACHILLES_Lineage_Results_Top_Genes	i_BAM_File	i_CGC_Cancer Germline Mut	i_CGC_Cancer Molecular Genetics	i_CGC_Cancer Somatic Mut	i_CGC_Cancer Syndrome	i_CGC_Chr	i_CGC_Chr Band	i_CGC_GeneID	i_CGC_Name	i_CGC_Other Germline Mut	i_CGC_Tissue Type	i_COSMIC_n_overlapping_mutations	i_COSMIC_overlapping_mutation_descriptions	i_COSMIC_overlapping_primary_sites	i_ClinVar_ASSEMBLY	i_ClinVar_HGMD_ID	i_ClinVar_SYM	i_ClinVar_TYPE	i_ClinVar_rs	i_ESP_AA	i_ESP_AAC	i_ESP_AA_AC	i_ESP_AA_AGE	i_ESP_AA_GTC	i_ESP_AvgAAsampleReadDepth	i_ESP_AvgEAsampleReadDepth	i_ESP_AvgSampleReadDepth	i_ESP_CA	i_ESP_CDP	i_ESP_CG	i_ESP_CP	i_ESP_Chromosome	i_ESP_DBSNP	i_ESP_DP	i_ESP_EA_AC	i_ESP_EA_AGE	i_ESP_EA_GTC	i_ESP_EXOME_CHIP	i_ESP_FG	i_ESP_GL	i_ESP_GM	i_ESP_GS	i_ESP_GTC	i_ESP_GTS	i_ESP_GWAS_PUBMED	i_ESP_MAF	i_ESP_PH	i_ESP_PP	i_ESP_Position	i_ESP_TAC	i_ESP_TotalAAsamplesCovered	i_ESP_TotalEAsamplesCovered	i_ESP_TotalSamplesCovered	i_EVS_AA	i_EVS_All	i_EVS_EA	i_Ensembl_so_accession	i_Ensembl_so_term	i_Entrez_Gene_Id	i_Familial_Cancer_Genes_Reference	i_Familial_Cancer_Genes_Synonym	i_HGNC_Accession Numbers	i_HGNC_CCDS IDs	i_HGNC_Chromosome	i_HGNC_Date Modified	i_HGNC_Date Name Changed	i_HGNC_Date Symbol Changed	i_HGNC_Ensembl Gene ID	i_HGNC_Ensembl ID(supplied by Ensembl)	i_HGNC_Enzyme IDs	i_HGNC_Gene family description	i_HGNC_HGNC ID	i_HGNC_Locus Group	i_HGNC_Locus Type	i_HGNC_Name Synonyms	i_HGNC_OMIM ID(supplied by NCBI)	i_HGNC_Previous Names	i_HGNC_Previous Symbols	i_HGNC_Primary IDs	i_HGNC_Pubmed IDs	i_HGNC_Record Type	i_HGNC_RefSeq(supplied by NCBI)	i_HGNC_Secondary IDs	i_HGNC_Status	i_HGNC_Synonyms	i_HGNC_UCSC ID(supplied by UCSC)	i_HGNC_UniProt ID(supplied by UniProt)	i_HGNC_VEGA IDs	i_HGVS_coding_DNA_change	i_HGVS_genomic_change	i_HGVS_protein_change	i_ORegAnno_bin	i_UniProt_alt_uniprot_accessions	i_Variant_Classification	i_Variant_Type	i_all_domains_WU	i_amino_acid_change_WU	i_annotation_transcript	i_build	i_c_position_WU	i_ccds_id	i_chromosome_name_WU	i_dbNSFP_1000Gp1_AC	i_dbNSFP_1000Gp1_AF	i_dbNSFP_1000Gp1_AFR_AC	i_dbNSFP_1000Gp1_AFR_AF	i_dbNSFP_1000Gp1_AMR_AC	i_dbNSFP_1000Gp1_AMR_AF	i_dbNSFP_1000Gp1_ASN_AC	i_dbNSFP_1000Gp1_ASN_AF	i_dbNSFP_1000Gp1_EUR_AC	i_dbNSFP_1000Gp1_EUR_AF	i_dbNSFP_Ancestral_allele	i_dbNSFP_CADD_phred	i_dbNSFP_CADD_raw	i_dbNSFP_CADD_raw_rankscore	i_dbNSFP_ESP6500_AA_AF	i_dbNSFP_ESP6500_EA_AF	i_dbNSFP_Ensembl_geneid	i_dbNSFP_Ensembl_transcriptid	i_dbNSFP_FATHMM_pred	i_dbNSFP_FATHMM_rankscore	i_dbNSFP_FATHMM_score	i_dbNSFP_GERP++_NR	i_dbNSFP_GERP++_RS	i_dbNSFP_GERP++_RS_rankscore	i_dbNSFP_Interpro_domain	i_dbNSFP_LRT_Omega	i_dbNSFP_LRT_converted_rankscore	i_dbNSFP_LRT_pred	i_dbNSFP_LRT_score	i_dbNSFP_LR_pred	i_dbNSFP_LR_rankscore	i_dbNSFP_LR_score	i_dbNSFP_MutationAssessor_pred	i_dbNSFP_MutationAssessor_rankscore	i_dbNSFP_MutationAssessor_score	i_dbNSFP_MutationTaster_converted_rankscore	i_dbNSFP_MutationTaster_pred	i_dbNSFP_MutationTaster_score	i_dbNSFP_Polyphen2_HDIV_pred	i_dbNSFP_Polyphen2_HDIV_rankscore	i_dbNSFP_Polyphen2_HDIV_score	i_dbNSFP_Polyphen2_HVAR_pred	i_dbNSFP_Polyphen2_HVAR_rankscore	i_dbNSFP_Polyphen2_HVAR_score	i_dbNSFP_RadialSVM_pred	i_dbNSFP_RadialSVM_rankscore	i_dbNSFP_RadialSVM_score	i_dbNSFP_Reliability_index	i_dbNSFP_SIFT_converted_rankscore	i_dbNSFP_SIFT_pred	i_dbNSFP_SIFT_score	i_dbNSFP_SLR_test_statistic	i_dbNSFP_SiPhy_29way_logOdds	i_dbNSFP_SiPhy_29way_logOdds_rankscore	i_dbNSFP_SiPhy_29way_pi	i_dbNSFP_UniSNP_ids	i_dbNSFP_Uniprot_aapos	i_dbNSFP_Uniprot_acc	i_dbNSFP_Uniprot_id	i_dbNSFP_aaalt	i_dbNSFP_aapos	i_dbNSFP_aapos_FATHMM	i_dbNSFP_aapos_SIFT	i_dbNSFP_aaref	i_dbNSFP_cds_strand	i_dbNSFP_codonpos	i_dbNSFP_fold-degenerate	i_dbNSFP_genename	i_dbNSFP_hg18_pos(1-coor)	i_dbNSFP_phastCons100way_vertebrate	i_dbNSFP_phastCons100way_vertebrate_rankscore	i_dbNSFP_phastCons46way_placental	i_dbNSFP_phastCons46way_placental_rankscore	i_dbNSFP_phastCons46way_primate	i_dbNSFP_phastCons46way_primate_rankscore	i_dbNSFP_phyloP100way_vertebrate	i_dbNSFP_phyloP100way_vertebrate_rankscore	i_dbNSFP_phyloP46way_placental	i_dbNSFP_phyloP46way_placental_rankscore	i_dbNSFP_phyloP46way_primate	i_dbNSFP_phyloP46way_primate_rankscore	i_dbNSFP_refcodon	i_default_gene_name_WU	i_deletion_substructures_WU	i_domain_WU	i_ensembl_gene_id	i_entrez_gene_id	i_gc_content_full	i_gencode_transcript_name	i_gencode_transcript_status	i_gencode_transcript_tags	i_gencode_transcript_type	i_gene_name_WU	i_gene_name_source_WU	i_gene_type	i_havana_transcript	i_normal_ref_reads	i_normal_vaf	i_normal_var_reads	i_reference_WU	i_refseq_mrna_id	i_secondary_variant_classification	i_start_WU	i_stop_WU	i_strand_WU	i_transcript_error_WU	i_transcript_name_WU	i_transcript_source_WU	i_transcript_species_WU	i_transcript_status_WU	i_transcript_version_WU	i_trv_type_WU	i_tumor_ref_reads	i_tumor_vaf	i_tumors_var_reads	i_type_WU	i_ucsc_cons_WU	i_variant_WU
AQR	9716	genome.wustl.edu	37	15	35168164	35168164	+	Missense_Mutation	SNP	A	A	G			TCGA-E2-A14X-01A-11D-A10Y-09	TCGA-E2-A14X-10A-01D-A110-09	A	A					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	74039acd-5aca-4c65-818c-3b577d295be0	764eea81-96aa-4302-a9e1-477e4cd25a5d	g.chr15:35168164A>G	ENST00000156471.5	-	28	3434	c.3209T>C	c.(3208-3210)aTa>aCa	p.I1070T		NM_014691.2	NP_055506.1	O60306	AQR_HUMAN	aquarius intron-binding spliceosomal factor	1070					mRNA splicing, via spliceosome (GO:0000398)	catalytic step 2 spliceosome (GO:0071013)|membrane (GO:0016020)|nucleus (GO:0005634)	poly(A) RNA binding (GO:0044822)			breast(1)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(10)|lung(18)|ovary(1)|prostate(6)|skin(4)|upper_aerodigestive_tract(2)	57		Lung NSC(122;8.7e-10)|all_lung(180;1.47e-08)		all cancers(64;4.34e-18)|GBM - Glioblastoma multiforme(113;4.59e-07)|BRCA - Breast invasive adenocarcinoma(123;0.0283)		AAAAGTTTCTATCTCCAGAAT	0.358																																						dbGAP											0													100.0	97.0	98.0					15																	35168164		1826	4079	5905	-	-	-	SO:0001583	missense	0			AB011132	CCDS42013.1	15q13	2013-09-12	2013-09-12			ENSG00000021776			29513	protein-coding gene	gene with protein product	"""functional spliceosome-associated protein 164"""	610548	"""aquarius homolog (mouse)"""			9626505, 16949364	Standard	NM_014691		Approved	KIAA0560, fSAP164, IBP160	uc001ziv.3	O60306		ENST00000156471.5:c.3209T>C	15.37:g.35168164A>G	ENSP00000156471:p.Ile1070Thr		A0JP17|A5YKK3|Q2YDX9|Q6IRU8|Q6PIC8	Missense_Mutation	SNP	NULL	p.I1070T	ENST00000156471.5	37	c.3209	CCDS42013.1	15	.	.	.	.	.	.	.	.	.	.	A	21.6	4.178566	0.78564	.	.	ENSG00000021776	ENST00000156471;ENST00000543879	D	0.82433	-1.61	5.03	5.03	0.67393	.	0.000000	0.85682	D	0.000000	D	0.90672	0.7074	M	0.80028	2.48	0.58432	D	0.999997	D	0.63046	0.992	D	0.68765	0.96	D	0.91990	0.5602	10	0.72032	D	0.01	-18.3903	14.7525	0.69536	1.0:0.0:0.0:0.0	.	1070	O60306	AQR_HUMAN	T	1070	ENSP00000156471:I1070T	ENSP00000156471:I1070T	I	-	2	0	AQR	32955456	1.000000	0.71417	1.000000	0.80357	0.993000	0.82548	9.333000	0.96459	1.880000	0.54463	0.528000	0.53228	ATA	AQR	-	NULL	ENSG00000021776		0.358	AQR-001	KNOWN	basic|appris_principal|CCDS	protein_coding	AQR	HGNC	protein_coding	OTTHUMT00000417526.2	301	0.00	0	A	NM_014691		35168164	35168164	-1	no_errors	ENST00000156471	ensembl	human	known	69_37n	missense	121	29.24	50	SNP	1.000	G
ARHGAP5	394	genome.wustl.edu	37	14	32562091	32562091	+	Missense_Mutation	SNP	G	G	A			TCGA-E2-A14X-01A-11D-A10Y-09	TCGA-E2-A14X-10A-01D-A110-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	74039acd-5aca-4c65-818c-3b577d295be0	764eea81-96aa-4302-a9e1-477e4cd25a5d	g.chr14:32562091G>A	ENST00000345122.3	+	2	2531	c.2216G>A	c.(2215-2217)cGt>cAt	p.R739H	ARHGAP5_ENST00000396582.2_Intron|ARHGAP5_ENST00000539826.2_Missense_Mutation_p.R739H|ARHGAP5_ENST00000433497.1_Intron|ARHGAP5_ENST00000556611.1_Missense_Mutation_p.R739H|ARHGAP5_ENST00000432921.1_Missense_Mutation_p.R739H	NM_001030055.1	NP_001025226.1	Q13017	RHG05_HUMAN	Rho GTPase activating protein 5	739					cell adhesion (GO:0007155)|GTP catabolic process (GO:0006184)|mammary gland development (GO:0030879)|positive regulation of cell migration (GO:0030335)|positive regulation of mesenchymal cell proliferation (GO:0002053)|positive regulation of Rho GTPase activity (GO:0032321)|regulation of cell size (GO:0008361)|regulation of small GTPase mediated signal transduction (GO:0051056)|Rho protein signal transduction (GO:0007266)|small GTPase mediated signal transduction (GO:0007264)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|membrane (GO:0016020)	GTP binding (GO:0005525)|GTPase activity (GO:0003924)|Rho GTPase activator activity (GO:0005100)|SH2 domain binding (GO:0042169)			NS(2)|breast(10)|central_nervous_system(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(10)|lung(12)|ovary(4)|skin(1)|stomach(1)|urinary_tract(4)	55	Hepatocellular(127;0.0604)|Prostate(35;0.15)|Breast(36;0.186)		LUAD - Lung adenocarcinoma(48;0.00192)|Lung(238;0.00714)|BRCA - Breast invasive adenocarcinoma(188;0.0952)|STAD - Stomach adenocarcinoma(7;0.173)	GBM - Glioblastoma multiforme(265;0.00566)		ACATATCCTCGTAAATTTAAT	0.413																																					NSCLC(9;77 350 3443 29227 41353)	dbGAP											0													78.0	77.0	77.0					14																	32562091		2202	4300	6502	-	-	-	SO:0001583	missense	0			U17032	CCDS32062.1, CCDS45095.1	14q12	2010-02-05						"""Rho GTPase activating proteins"""	675	protein-coding gene	gene with protein product		602680	"""growth factor independent 2"""	GFI2		8537347	Standard	XM_005267635		Approved	RhoGAP5, p190-B, p190BRhoGAP	uc001wrn.3	Q13017		ENST00000345122.3:c.2216G>A	14.37:g.32562091G>A	ENSP00000371897:p.Arg739His		A1L375|A1L376|A8KAA1|D3DS89|D3DS90|Q05BE8|Q05BU8|Q59ER0|Q6DHZ3	Missense_Mutation	SNP	pfam_RhoGAP_dom,pfam_FF_domain,pfam_Small_GTPase,superfamily_Rho_GTPase_activation_prot,superfamily_FF_domain,smart_FF_domain,smart_RhoGAP_dom,pfscan_RhoGAP_dom,prints_Small_GTPase	p.R739H	ENST00000345122.3	37	c.2216	CCDS32062.1	14	.	.	.	.	.	.	.	.	.	.	G	19.93	3.918525	0.73098	.	.	ENSG00000100852	ENST00000556611;ENST00000539826;ENST00000345122;ENST00000432921	T;T;T;T	0.42900	0.96;0.96;0.96;0.96	5.5	5.5	0.81552	.	0.000000	0.85682	D	0.000000	T	0.54255	0.1847	L	0.50333	1.59	0.80722	D	1	D;D	0.59357	0.985;0.975	P;P	0.53861	0.736;0.548	T	0.54470	-0.8289	10	0.62326	D	0.03	.	19.7595	0.96308	0.0:0.0:1.0:0.0	.	739;739	Q13017-2;Q13017	.;RHG05_HUMAN	H	739	ENSP00000452222:R739H;ENSP00000441692:R739H;ENSP00000371897:R739H;ENSP00000393307:R739H	ENSP00000371897:R739H	R	+	2	0	ARHGAP5	31631842	1.000000	0.71417	1.000000	0.80357	0.993000	0.82548	9.788000	0.99064	2.732000	0.93576	0.650000	0.86243	CGT	ARHGAP5	-	NULL	ENSG00000100852		0.413	ARHGAP5-201	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	ARHGAP5	HGNC	protein_coding	OTTHUMT00000409735.1	164	0.00	0	G	NM_001030055		32562091	32562091	+1	no_errors	ENST00000345122	ensembl	human	known	69_37n	missense	69	11.54	9	SNP	1.000	A
CTNND2	1501	genome.wustl.edu	37	5	11346626	11346626	+	Missense_Mutation	SNP	C	C	G			TCGA-E2-A14X-01A-11D-A10Y-09	TCGA-E2-A14X-10A-01D-A110-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	74039acd-5aca-4c65-818c-3b577d295be0	764eea81-96aa-4302-a9e1-477e4cd25a5d	g.chr5:11346626C>G	ENST00000304623.8	-	9	1675	c.1486G>C	c.(1486-1488)Gcc>Ccc	p.A496P	CTNND2_ENST00000511377.1_Missense_Mutation_p.A405P|CTNND2_ENST00000503622.1_Missense_Mutation_p.A159P|CTNND2_ENST00000495388.2_5'UTR|CTNND2_ENST00000359640.2_Missense_Mutation_p.A496P|CTNND2_ENST00000458100.2_Missense_Mutation_p.A63P	NM_001332.2	NP_001323.1	Q9UQB3	CTND2_HUMAN	catenin (cadherin-associated protein), delta 2	496					cell adhesion (GO:0007155)|learning (GO:0007612)|morphogenesis of a branching structure (GO:0001763)|multicellular organismal development (GO:0007275)|regulation of synaptic plasticity (GO:0048167)|regulation of transcription, DNA-templated (GO:0006355)|signal transduction (GO:0007165)|single organismal cell-cell adhesion (GO:0016337)|transcription, DNA-templated (GO:0006351)	cell junction (GO:0030054)|cytoplasm (GO:0005737)|nucleus (GO:0005634)				NS(1)|autonomic_ganglia(1)|breast(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(3)|kidney(3)|large_intestine(29)|liver(1)|lung(71)|ovary(4)|pancreas(2)|prostate(1)|skin(5)|upper_aerodigestive_tract(4)|urinary_tract(2)	136						TAATTGGAGGCTGGGCCGGCG	0.647																																						dbGAP											0													74.0	78.0	77.0					5																	11346626		2203	4300	6503	-	-	-	SO:0001583	missense	0			U52828	CCDS3881.1, CCDS75227.1, CCDS75228.1	5p15.2	2013-02-14	2012-08-15		ENSG00000169862	ENSG00000169862		"""Armadillo repeat containing"""	2516	protein-coding gene	gene with protein product	"""neural plakophilin-related arm-repeat protein"""	604275	"""catenin (cadherin-associated protein), delta 2 (neural plakophilin-related arm-repeat protein)"""			9342840, 9223106	Standard	XM_005248251		Approved	NPRAP, GT24	uc003jfa.1	Q9UQB3	OTTHUMG00000090511	ENST00000304623.8:c.1486G>C	5.37:g.11346626C>G	ENSP00000307134:p.Ala496Pro		B0FTZ7|O00379|O15390|O43206|O43840|Q13589|Q9UM66|Q9UPM3	Missense_Mutation	SNP	pfam_Armadillo,superfamily_ARM-type_fold,smart_Armadillo,pfscan_Armadillo	p.A496P	ENST00000304623.8	37	c.1486	CCDS3881.1	5	.	.	.	.	.	.	.	.	.	.	C	14.46	2.541662	0.45280	.	.	ENSG00000169862	ENST00000304623;ENST00000359640;ENST00000511377;ENST00000458100;ENST00000503622	T;T;T;T;T	0.78481	-1.04;-1.11;-1.04;-1.18;-1.14	5.63	4.76	0.60689	.	0.380726	0.26525	N	0.023895	T	0.66257	0.2771	N	0.19112	0.55	0.33444	D	0.58281	B;B;B	0.24533	0.105;0.072;0.003	B;B;B	0.20384	0.029;0.02;0.002	T	0.70619	-0.4822	10	0.48119	T	0.1	-11.1765	15.8944	0.79323	0.1366:0.8634:0.0:0.0	.	159;63;496	B4DRK2;B4DG58;Q9UQB3	.;.;CTND2_HUMAN	P	496;496;405;63;159	ENSP00000307134:A496P;ENSP00000352661:A496P;ENSP00000426510:A405P;ENSP00000391155:A63P;ENSP00000426887:A159P	ENSP00000307134:A496P	A	-	1	0	CTNND2	11399626	0.993000	0.37304	0.872000	0.34217	0.500000	0.33767	4.532000	0.60608	1.376000	0.46267	-0.302000	0.09304	GCC	CTNND2	-	NULL	ENSG00000169862		0.647	CTNND2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	CTNND2	HGNC	protein_coding	OTTHUMT00000206999.1	144	0.69	1	C	NM_001332		11346626	11346626	-1	no_errors	ENST00000304623	ensembl	human	known	69_37n	missense	124	14.48	21	SNP	0.994	G
DNAH17	8632	genome.wustl.edu	37	17	76471537	76471537	+	Silent	SNP	G	G	A			TCGA-E2-A14X-01A-11D-A10Y-09	TCGA-E2-A14X-10A-01D-A110-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	74039acd-5aca-4c65-818c-3b577d295be0	764eea81-96aa-4302-a9e1-477e4cd25a5d	g.chr17:76471537G>A	ENST00000585328.1	-	54	8443	c.8319C>T	c.(8317-8319)gaC>gaT	p.D2773D	DNAH17_ENST00000586052.1_5'UTR|DNAH17_ENST00000389840.5_Silent_p.D2764D	NM_173628.3	NP_775899.3	Q9UFH2	DYH17_HUMAN	dynein, axonemal, heavy chain 17	2764	AAA 4. {ECO:0000250}.				cilium or flagellum-dependent cell motility (GO:0001539)|metabolic process (GO:0008152)|microtubule-based movement (GO:0007018)	axonemal dynein complex (GO:0005858)|microtubule (GO:0005874)	ATP binding (GO:0005524)|ATPase activity (GO:0016887)|microtubule motor activity (GO:0003777)			NS(2)|breast(7)|central_nervous_system(5)|cervix(1)|endometrium(15)|haematopoietic_and_lymphoid_tissue(1)|kidney(13)|large_intestine(8)|lung(37)|ovary(8)|prostate(7)|skin(4)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(3)	116			BRCA - Breast invasive adenocarcinoma(99;0.00294)|OV - Ovarian serous cystadenocarcinoma(97;0.0656)			GAGCCACGGCGTCCTCAAACA	0.597																																						dbGAP											0													48.0	50.0	49.0					17																	76471537		2106	4233	6339	-	-	-	SO:0001819	synonymous_variant	0			AJ000522		17q25.3	2012-04-19	2006-09-04		ENSG00000187775	ENSG00000187775		"""Axonemal dyneins"""	2946	protein-coding gene	gene with protein product		610063	"""dynein, axonemal, heavy polypeptide 17"", ""dynein, axonemal, heavy chain like 1"", ""dynein, axonemal, heavy like 1"""	DNAHL1		9545504	Standard	NM_173628		Approved	DNEL2, FLJ40457	uc010dhp.2	Q9UFH2		ENST00000585328.1:c.8319C>T	17.37:g.76471537G>A			O00431|O15206|Q2M2Y1|Q6ZRQ2|Q8N7Q7	Silent	SNP	pfam_Dynein_heavy,pfam_Dynein_heavy_dom-1,pfam_Dynein_heavy_dom-2,pfam_ATPase_dyneun-rel_AAA,superfamily_HR1_rho-bd	p.D2764	ENST00000585328.1	37	c.8292		17																																																																																			DNAH17	-	NULL	ENSG00000187775		0.597	DNAH17-001	PUTATIVE	not_organism_supported|basic|appris_principal	protein_coding	DNAH17	HGNC	protein_coding	OTTHUMT00000318962.2	82	0.00	0	G	NM_173628		76471537	76471537	-1	no_errors	ENST00000389840	ensembl	human	known	69_37n	silent	24	31.43	11	SNP	0.572	A
G2E3	55632	genome.wustl.edu	37	14	31071093	31071093	+	Silent	SNP	C	C	T			TCGA-E2-A14X-01A-11D-A10Y-09	TCGA-E2-A14X-10A-01D-A110-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	74039acd-5aca-4c65-818c-3b577d295be0	764eea81-96aa-4302-a9e1-477e4cd25a5d	g.chr14:31071093C>T	ENST00000206595.6	+	9	1024	c.870C>T	c.(868-870)taC>taT	p.Y290Y	G2E3_ENST00000438909.2_Silent_p.Y244Y|G2E3_ENST00000544007.1_3'UTR|G2E3_ENST00000553504.1_Silent_p.Y320Y	NM_017769.3	NP_060239.2	Q7L622	G2E3_HUMAN	G2/M-phase specific E3 ubiquitin protein ligase	290					apoptotic process (GO:0006915)|blastocyst development (GO:0001824)|negative regulation of intrinsic apoptotic signaling pathway (GO:2001243)|protein polyubiquitination (GO:0000209)	cytoplasm (GO:0005737)|nucleus (GO:0005634)	ligase activity (GO:0016874)|ubiquitin-protein transferase activity (GO:0004842)|zinc ion binding (GO:0008270)			endometrium(2)|kidney(3)|large_intestine(4)|lung(8)|ovary(2)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)	23						GTATTATCTACAATTCAGGTA	0.333																																						dbGAP											0													75.0	72.0	73.0					14																	31071093		2203	4300	6503	-	-	-	SO:0001819	synonymous_variant	0			AK000340	CCDS9638.1	14q12	2013-01-28	2010-09-17	2009-02-03	ENSG00000092140	ENSG00000092140		"""Zinc fingers, PHD-type"""	20338	protein-coding gene	gene with protein product	"""PHD finger protein 7B"""	611299	"""KIAA1333"""	KIAA1333		18511420, 17239372	Standard	NM_017769		Approved	FLJ20333, PHF7B	uc001wqk.2	Q7L622	OTTHUMG00000140204	ENST00000206595.6:c.870C>T	14.37:g.31071093C>T			Q9BVR2|Q9H9E9|Q9NXC0|Q9P2L3	Nonsense_Mutation	SNP	superfamily_Znf_FYVE_PHD	p.Q54*	ENST00000206595.6	37	c.160	CCDS9638.1	14	.	.	.	.	.	.	.	.	.	.	C	7.844	0.722446	0.15439	.	.	ENSG00000092140	ENST00000552515	.	.	.	5.88	4.07	0.47477	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	-10.5378	8.1865	0.31341	0.1358:0.7259:0.0:0.1384	.	.	.	.	X	56	.	.	Q	+	1	0	G2E3	30140844	0.999000	0.42202	1.000000	0.80357	0.992000	0.81027	0.558000	0.23469	0.838000	0.34948	-0.136000	0.14681	CAA	G2E3	-	superfamily_Znf_FYVE_PHD	ENSG00000092140		0.333	G2E3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	G2E3	HGNC	protein_coding	OTTHUMT00000276613.2	320	0.00	0	C	NM_017769		31071093	31071093	+1	pseudogene:no_stop_codon:bad_bp_length_for_coding_region	ENST00000548934	ensembl	human	known	69_37n	nonsense	104	29.73	44	SNP	1.000	T
GAP43	2596	genome.wustl.edu	37	3	115382754	115382754	+	Intron	SNP	G	G	T			TCGA-E2-A14X-01A-11D-A10Y-09	TCGA-E2-A14X-10A-01D-A110-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	74039acd-5aca-4c65-818c-3b577d295be0	764eea81-96aa-4302-a9e1-477e4cd25a5d	g.chr3:115382754G>T	ENST00000305124.6	+	2	396				RP11-326J18.1_ENST00000491321.1_RNA|GAP43_ENST00000393780.3_Missense_Mutation_p.W43C	NM_002045.3	NP_002036.1	P17677	NEUM_HUMAN	growth associated protein 43						axon choice point recognition (GO:0016198)|cell fate commitment (GO:0045165)|glial cell differentiation (GO:0010001)|protein kinase C-activating G-protein coupled receptor signaling pathway (GO:0007205)|regulation of filopodium assembly (GO:0051489)|regulation of growth (GO:0040008)|response to wounding (GO:0009611)|tissue regeneration (GO:0042246)	axon (GO:0030424)|cell junction (GO:0030054)|cytoplasm (GO:0005737)|filopodium membrane (GO:0031527)|plasma membrane (GO:0005886)|synapse (GO:0045202)				endometrium(3)|kidney(3)|large_intestine(3)|lung(20)|ovary(1)|skin(1)|upper_aerodigestive_tract(1)	32				GBM - Glioblastoma multiforme(114;0.164)		TGACTTTCTGGATTTCAAGGG	0.418																																						dbGAP											0													189.0	164.0	172.0					3																	115382754		692	1591	2283	-	-	-	SO:0001627	intron_variant	0				CCDS33830.1, CCDS46890.1	3q13.31	2013-09-19			ENSG00000172020	ENSG00000172020			4140	protein-coding gene	gene with protein product	"""neuron growth-associated protein 43"", ""neuromodulin"", ""nerve growth-related peptide GAP43"", ""axonal membrane protein GAP-43"", ""protein F1"", ""calmodulin-binding protein P-57"", ""neural phosphoprotein B-50"""	162060				3272162, 8231732	Standard	NM_002045		Approved	B-50, PP46	uc003ebr.2	P17677	OTTHUMG00000133758	ENST00000305124.6:c.31-12106G>T	3.37:g.115382754G>T			A8K0Y4	Missense_Mutation	SNP	pfam_Neuromodulin_C,pfam_Neuromodulin_gap-junction_N,pfam_IQ_motif_EF-hand-BS,smart_IQ_motif_EF-hand-BS,prints_Neuromodulin,pfscan_IQ_motif_EF-hand-BS	p.W43C	ENST00000305124.6	37	c.129	CCDS33830.1	3	.	.	.	.	.	.	.	.	.	.	G	4.781	0.145171	0.09134	.	.	ENSG00000172020	ENST00000393780	T	0.33216	1.42	3.04	-0.953	0.10362	.	.	.	.	.	T	0.18383	0.0441	.	.	.	0.09310	N	1	B	0.02656	0.0	B	0.01281	0.0	T	0.24728	-1.0152	8	0.59425	D	0.04	.	3.3664	0.07204	0.3813:0.2056:0.4131:0.0	.	43	A8K0Y4	.	C	43	ENSP00000377372:W43C	ENSP00000377372:W43C	W	+	3	0	GAP43	116865444	0.000000	0.05858	0.000000	0.03702	0.035000	0.12851	-0.749000	0.04813	-0.253000	0.09514	-0.145000	0.13849	TGG	GAP43	-	NULL	ENSG00000172020		0.418	GAP43-001	KNOWN	basic|appris_principal|CCDS	protein_coding	GAP43	HGNC	protein_coding	OTTHUMT00000258216.2	591	0.17	1	G	NM_002045		115382754	115382754	+1	no_errors	ENST00000393780	ensembl	human	putative	69_37n	missense	264	12.00	36	SNP	0.000	T
HECW1	23072	genome.wustl.edu	37	7	43591895	43591895	+	Silent	SNP	C	C	A	rs556568660		TCGA-E2-A14X-01A-11D-A10Y-09	TCGA-E2-A14X-10A-01D-A110-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	74039acd-5aca-4c65-818c-3b577d295be0	764eea81-96aa-4302-a9e1-477e4cd25a5d	g.chr7:43591895C>A	ENST00000395891.2	+	28	5075	c.4470C>A	c.(4468-4470)atC>atA	p.I1490I	HECW1_ENST00000453890.1_Silent_p.I1456I	NM_015052.3	NP_055867.3	Q76N89	HECW1_HUMAN	HECT, C2 and WW domain containing E3 ubiquitin protein ligase 1	1490	HECT. {ECO:0000255|PROSITE- ProRule:PRU00104}.				protein ubiquitination involved in ubiquitin-dependent protein catabolic process (GO:0042787)	cytoplasm (GO:0005737)	ligase activity (GO:0016874)|ubiquitin-protein transferase activity (GO:0004842)			NS(2)|breast(10)|central_nervous_system(2)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(17)|lung(57)|ovary(8)|pancreas(2)|prostate(2)|skin(6)|urinary_tract(3)	125						CCGCGGAAATCGACCTAAATG	0.512																																						dbGAP											0													118.0	123.0	122.0					7																	43591895		2040	4178	6218	-	-	-	SO:0001819	synonymous_variant	0			AB048365	CCDS5469.2, CCDS69286.1	7p13	2004-12-13			ENSG00000002746	ENSG00000002746			22195	protein-coding gene	gene with protein product		610384				12690205, 14684739	Standard	XM_005249665		Approved	KIAA0322, NEDL1	uc003tid.1	Q76N89	OTTHUMG00000128917	ENST00000395891.2:c.4470C>A	7.37:g.43591895C>A			A7E2X0|A8MYS3|B4DH42|O15036|Q9HCC7	Silent	SNP	pfam_HECT,pfam_WW_Rsp5_WWP,pfam_C2_Ca-dep,superfamily_HECT,superfamily_WW_Rsp5_WWP,superfamily_C2_Ca/lipid-bd_dom_CaLB,smart_C2_Ca-dep,smart_WW_Rsp5_WWP,smart_HECT,pfscan_HECT,pfscan_C2_membr_targeting,pfscan_WW_Rsp5_WWP	p.I1490	ENST00000395891.2	37	c.4470	CCDS5469.2	7																																																																																			HECW1	-	pfam_HECT,superfamily_HECT,smart_HECT,pfscan_HECT	ENSG00000002746		0.512	HECW1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	HECW1	HGNC	protein_coding	OTTHUMT00000250893.2	362	0.00	0	C	NM_015052		43591895	43591895	+1	no_errors	ENST00000395891	ensembl	human	known	69_37n	silent	218	16.79	44	SNP	0.306	A
HSPBAP1	79663	genome.wustl.edu	37	3	122459884	122459884	+	Missense_Mutation	SNP	G	G	A			TCGA-E2-A14X-01A-11D-A10Y-09	TCGA-E2-A14X-10A-01D-A110-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	74039acd-5aca-4c65-818c-3b577d295be0	764eea81-96aa-4302-a9e1-477e4cd25a5d	g.chr3:122459884G>A	ENST00000306103.2	-	7	1045	c.902C>T	c.(901-903)cCa>cTa	p.P301L	HSPBAP1_ENST00000383659.1_3'UTR	NM_024610.5	NP_078886.2	Q96EW2	HBAP1_HUMAN	HSPB (heat shock 27kDa) associated protein 1	301						cytoplasm (GO:0005737)				breast(1)|endometrium(3)|kidney(1)|large_intestine(1)|lung(8)|ovary(1)|urinary_tract(1)	16				GBM - Glioblastoma multiforme(114;0.0531)		GGTATTTTGTGGATTCTCTGC	0.478																																						dbGAP											0													125.0	130.0	128.0					3																	122459884		2203	4300	6503	-	-	-	SO:0001583	missense	0			AF400663	CCDS3017.1	3q21.1	2008-07-18	2002-08-29		ENSG00000169087	ENSG00000169087			16389	protein-coding gene	gene with protein product		608263	"""HSPB (heat shock 27kD) associated protein 1"""			11978969	Standard	NM_024610		Approved	FLJ22623, PASS1	uc003efu.2	Q96EW2	OTTHUMG00000159550	ENST00000306103.2:c.902C>T	3.37:g.122459884G>A	ENSP00000302562:p.Pro301Leu		Q6P476|Q8N8J4|Q8NHH6|Q8WWF0	Missense_Mutation	SNP	pfam_JmjC_dom,smart_JmjC_dom,pfscan_JmjC_dom,prints_HSPB1-associated_protein_1	p.P301L	ENST00000306103.2	37	c.902	CCDS3017.1	3	.	.	.	.	.	.	.	.	.	.	G	8.887	0.952954	0.18431	.	.	ENSG00000169087	ENST00000306103	T	0.11821	2.74	5.23	5.23	0.72850	Cupin, JmjC-type (1);	0.334092	0.32106	N	0.006576	T	0.18045	0.0433	M	0.68952	2.095	0.80722	D	1	B	0.27286	0.174	B	0.20184	0.028	T	0.01363	-1.1374	10	0.41790	T	0.15	.	16.1136	0.81283	0.0:0.0:1.0:0.0	.	301	Q96EW2	HBAP1_HUMAN	L	301	ENSP00000302562:P301L	ENSP00000302562:P301L	P	-	2	0	HSPBAP1	123942574	1.000000	0.71417	0.413000	0.26509	0.056000	0.15407	5.852000	0.69488	2.726000	0.93360	0.655000	0.94253	CCA	HSPBAP1	-	pfam_JmjC_dom,prints_HSPB1-associated_protein_1	ENSG00000169087		0.478	HSPBAP1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	HSPBAP1	HGNC	protein_coding	OTTHUMT00000356161.1	413	0.00	0	G	NM_024610		122459884	122459884	-1	no_errors	ENST00000306103	ensembl	human	known	69_37n	missense	226	14.39	38	SNP	0.677	A
IQSEC3	440073	genome.wustl.edu	37	12	176120	176120	+	Missense_Mutation	SNP	C	C	G	rs2650190		TCGA-E2-A14X-01A-11D-A10Y-09	TCGA-E2-A14X-10A-01D-A110-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	74039acd-5aca-4c65-818c-3b577d295be0	764eea81-96aa-4302-a9e1-477e4cd25a5d	g.chr12:176120C>G	ENST00000538872.1	+	1	190	c.72C>G	c.(70-72)aaC>aaG	p.N24K	IQSEC3_ENST00000326261.4_Missense_Mutation_p.N24K			Q9UPP2	IQEC3_HUMAN	IQ motif and Sec7 domain 3	24					actin cytoskeleton organization (GO:0030036)|positive regulation of GTPase activity (GO:0043547)|regulation of ARF protein signal transduction (GO:0032012)	cell junction (GO:0030054)|cytoplasm (GO:0005737)|inhibitory synapse (GO:0060077)|postsynaptic membrane (GO:0045211)	ARF guanyl-nucleotide exchange factor activity (GO:0005086)			central_nervous_system(2)|endometrium(2)|kidney(1)|large_intestine(6)|lung(18)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	35	all_cancers(10;0.016)|all_lung(10;0.0222)|all_epithelial(11;0.0262)|Lung NSC(10;0.031)		OV - Ovarian serous cystadenocarcinoma(31;0.00456)	LUAD - Lung adenocarcinoma(1;0.172)|Lung(1;0.179)		TCGTGCAGAACCAGCAGAGCC	0.687																																						dbGAP											0													4.0	5.0	5.0					12																	176120		1422	3317	4739	-	-	-	SO:0001583	missense	0			AB029033	CCDS31725.1, CCDS53728.1	12p13.33	2014-03-18			ENSG00000120645	ENSG00000120645			29193	protein-coding gene	gene with protein product		612118				10470851	Standard	NM_001170738		Approved	KIAA1110, MGC30156	uc001qhw.2	Q9UPP2	OTTHUMG00000167975	ENST00000538872.1:c.72C>G	12.37:g.176120C>G	ENSP00000437554:p.Asn24Lys		A6NIF2|A6NKV9|Q8TB43	Missense_Mutation	SNP	pfam_Sec7,superfamily_Sec7,smart_Sec7,pfscan_IQ_motif_EF-hand-BS,pfscan_Sec7	p.N24K	ENST00000538872.1	37	c.72	CCDS53728.1	12	101	0.04624542124542125	33	0.06707317073170732	19	0.052486187845303865	18	0.03146853146853147	31	0.040897097625329816	c	16.55	3.154730	0.57259	.	.	ENSG00000120645	ENST00000538872;ENST00000326261	T;T	0.36699	1.24;1.24	3.68	2.77	0.32553	.	204.329000	0.01193	U	0.007372	T	0.06280	0.0162	L	0.53249	1.67	0.44275	D	0.99713	.	.	.	.	.	.	T	0.02437	-1.1159	8	0.72032	D	0.01	.	10.0887	0.42434	0.2025:0.7975:0.0:0.0	rs2650190	.	.	.	K	24	ENSP00000437554:N24K;ENSP00000315662:N24K	ENSP00000315662:N24K	N	+	3	2	IQSEC3	46381	1.000000	0.71417	1.000000	0.80357	0.785000	0.44390	4.047000	0.57383	0.732000	0.32470	0.456000	0.33151	AAC	IQSEC3	-	NULL	ENSG00000120645		0.687	IQSEC3-002	KNOWN	basic|appris_principal|CCDS	protein_coding	IQSEC3	HGNC	protein_coding	OTTHUMT00000397382.3	10	0.00	0	C	XM_495902		176120	176120	+1	no_errors	ENST00000326261	ensembl	human	known	69_37n	missense	8	33.33	4	SNP	1.000	G
MYH15	22989	genome.wustl.edu	37	3	108129643	108129643	+	Missense_Mutation	SNP	G	G	T	rs370569963		TCGA-E2-A14X-01A-11D-A10Y-09	TCGA-E2-A14X-10A-01D-A110-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	74039acd-5aca-4c65-818c-3b577d295be0	764eea81-96aa-4302-a9e1-477e4cd25a5d	g.chr3:108129643G>T	ENST00000273353.3	-	32	4398	c.4342C>A	c.(4342-4344)Cgc>Agc	p.R1448S		NM_014981.1	NP_055796.1	Q9Y2K3	MYH15_HUMAN	myosin, heavy chain 15	1448						cytoplasm (GO:0005737)|myosin filament (GO:0032982)	ATP binding (GO:0005524)|motor activity (GO:0003774)			NS(1)|breast(3)|central_nervous_system(2)|cervix(4)|endometrium(10)|kidney(4)|large_intestine(14)|lung(47)|ovary(5)|pancreas(2)|prostate(6)|skin(2)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(2)	105						GCTGCAGAGCGGACCTTCCCG	0.647																																						dbGAP											0													37.0	38.0	38.0					3																	108129643		2044	4198	6242	-	-	-	SO:0001583	missense	0			AB023217	CCDS43127.1	3q13	2011-09-27	2006-09-29		ENSG00000144821	ENSG00000144821		"""Myosins / Myosin superfamily : Class II"""	31073	protein-coding gene	gene with protein product		609929	"""myosin, heavy polypeptide 15"""			15014174, 15042088	Standard	NM_014981		Approved	KIAA1000	uc003dxa.1	Q9Y2K3	OTTHUMG00000159226	ENST00000273353.3:c.4342C>A	3.37:g.108129643G>T	ENSP00000273353:p.Arg1448Ser			Missense_Mutation	SNP	pfam_Myosin_head_motor_dom,pfam_Myosin_tail,pfam_Myosin_N,superfamily_Prefoldin,superfamily_Lambda_DNA-bd_dom,smart_Myosin_head_motor_dom,prints_Myosin_head_motor_dom	p.R1448S	ENST00000273353.3	37	c.4342	CCDS43127.1	3	.	.	.	.	.	.	.	.	.	.	G	9.911	1.209447	0.22289	.	.	ENSG00000144821	ENST00000273353	D	0.82081	-1.57	5.31	1.32	0.21799	Myosin tail (1);	.	.	.	.	T	0.73845	0.3639	N	0.19112	0.55	0.09310	N	1	B	0.30973	0.302	B	0.41571	0.36	T	0.65573	-0.6135	9	0.62326	D	0.03	.	4.3075	0.10955	0.257:0.0:0.4471:0.2959	.	1448	Q9Y2K3	MYH15_HUMAN	S	1448	ENSP00000273353:R1448S	ENSP00000273353:R1448S	R	-	1	0	MYH15	109612333	0.002000	0.14202	0.000000	0.03702	0.066000	0.16364	0.571000	0.23669	0.249000	0.21456	-0.258000	0.10820	CGC	MYH15	-	pfam_Myosin_tail	ENSG00000144821		0.647	MYH15-001	KNOWN	basic|appris_principal|CCDS	protein_coding	MYH15	HGNC	protein_coding	OTTHUMT00000353935.1	58	0.00	0	G	XM_036988		108129643	108129643	-1	no_errors	ENST00000273353	ensembl	human	known	69_37n	missense	43	10.42	5	SNP	0.074	T
NAP1L2	4674	genome.wustl.edu	37	X	72433234	72433234	+	Silent	SNP	A	A	G			TCGA-E2-A14X-01A-11D-A10Y-09	TCGA-E2-A14X-10A-01D-A110-09	A	A					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	74039acd-5aca-4c65-818c-3b577d295be0	764eea81-96aa-4302-a9e1-477e4cd25a5d	g.chrX:72433234A>G	ENST00000373517.3	-	1	1450	c.1095T>C	c.(1093-1095)ttT>ttC	p.F365F	NAP1L2_ENST00000536638.1_Silent_p.F223F	NM_021963.3	NP_068798.1	Q9ULW6	NP1L2_HUMAN	nucleosome assembly protein 1-like 2	365					nucleosome assembly (GO:0006334)|positive regulation of histone H3-K14 acetylation (GO:0071442)|positive regulation of histone H3-K9 acetylation (GO:2000617)|positive regulation of neuron differentiation (GO:0045666)|regulation of stem cell division (GO:2000035)	nucleus (GO:0005634)	chromatin binding (GO:0003682)			NS(1)|breast(2)|endometrium(2)|kidney(3)|large_intestine(6)|lung(12)|skin(3)	29	Renal(35;0.156)					AATCCTTGGGAAAATCTTCAG	0.358																																						dbGAP											0													60.0	53.0	55.0					X																	72433234		2203	4300	6503	-	-	-	SO:0001819	synonymous_variant	0			AF136178	CCDS14423.1	Xq13	2008-02-05			ENSG00000186462	ENSG00000186462			7638	protein-coding gene	gene with protein product		300026				8789438	Standard	NM_021963		Approved	BPX, MGC26243	uc004ebi.3	Q9ULW6	OTTHUMG00000021827	ENST00000373517.3:c.1095T>C	X.37:g.72433234A>G			B2RE61|B4E161|Q8TAN6	Silent	SNP	pfam_NAP_family	p.F365	ENST00000373517.3	37	c.1095	CCDS14423.1	X																																																																																			NAP1L2	-	pfam_NAP_family	ENSG00000186462		0.358	NAP1L2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NAP1L2	HGNC	protein_coding	OTTHUMT00000057225.1	238	0.00	0	A	NM_021963		72433234	72433234	-1	no_errors	ENST00000373517	ensembl	human	known	69_37n	silent	62	18.42	14	SNP	0.956	G
OR6S1	341799	genome.wustl.edu	37	14	21109743	21109743	+	Silent	SNP	G	G	C			TCGA-E2-A14X-01A-11D-A10Y-09	TCGA-E2-A14X-10A-01D-A110-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	74039acd-5aca-4c65-818c-3b577d295be0	764eea81-96aa-4302-a9e1-477e4cd25a5d	g.chr14:21109743G>C	ENST00000320704.3	-	1	107	c.108C>G	c.(106-108)gtC>gtG	p.V36V		NM_001001968.1	NP_001001968.1	Q8NH40	OR6S1_HUMAN	olfactory receptor, family 6, subfamily S, member 1	36						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)			kidney(1)|large_intestine(3)|lung(13)|ovary(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(2)	23	all_cancers(95;0.00304)		Epithelial(56;1.23e-06)|all cancers(55;1.01e-05)	GBM - Glioblastoma multiforme(265;0.0135)		TCAGGAGATAGACAAGAAGAA	0.478																																						dbGAP											0													101.0	100.0	100.0					14																	21109743		2203	4300	6503	-	-	-	SO:0001819	synonymous_variant	0			AL163636	CCDS32038.1	14q11.2	2013-09-24			ENSG00000181803	ENSG00000181803		"""GPCR / Class A : Olfactory receptors"""	15363	protein-coding gene	gene with protein product							Standard	NM_001001968		Approved	OR6S1Q	uc001vxv.1	Q8NH40	OTTHUMG00000171010	ENST00000320704.3:c.108C>G	14.37:g.21109743G>C			Q6IFJ9	Silent	SNP	pfam_7TM_GPCR_Rhodpsn,prints_Olfact_rcpt,prints_7TM_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_supfam	p.V36	ENST00000320704.3	37	c.108	CCDS32038.1	14																																																																																			OR6S1	-	prints_7TM_GPCR_Rhodpsn	ENSG00000181803		0.478	OR6S1-001	KNOWN	not_organism_supported|basic|appris_principal|CCDS	protein_coding	OR6S1	HGNC	protein_coding	OTTHUMT00000411227.1	138	0.00	0	G			21109743	21109743	-1	no_errors	ENST00000320704	ensembl	human	known	69_37n	silent	47	25.00	16	SNP	0.953	C
PIWIL1	9271	genome.wustl.edu	37	12	130855727	130855728	+	Frame_Shift_Ins	INS	-	-	T			TCGA-E2-A14X-01A-11D-A10Y-09	TCGA-E2-A14X-10A-01D-A110-09	-	-					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	74039acd-5aca-4c65-818c-3b577d295be0	764eea81-96aa-4302-a9e1-477e4cd25a5d	g.chr12:130855727_130855728insT	ENST00000245255.3	+	20	2600_2601	c.2328_2329insT	c.(2329-2331)tttfs	p.F777fs	PIWIL1_ENST00000541480.1_3'UTR	NM_001190971.1|NM_004764.4	NP_001177900.1|NP_004755.2	Q96J94	PIWL1_HUMAN	piwi-like RNA-mediated gene silencing 1	777	Piwi. {ECO:0000255|PROSITE- ProRule:PRU00150}.				gene silencing by RNA (GO:0031047)|meiotic nuclear division (GO:0007126)|multicellular organismal development (GO:0007275)|piRNA metabolic process (GO:0034587)|regulation of translation (GO:0006417)|spermatid development (GO:0007286)	chromatoid body (GO:0033391)|cytoplasm (GO:0005737)|mRNA cap binding complex (GO:0005845)|P granule (GO:0043186)|polysome (GO:0005844)	mRNA binding (GO:0003729)|piRNA binding (GO:0034584)|single-stranded RNA binding (GO:0003727)			breast(6)|cervix(1)|endometrium(2)|kidney(4)|large_intestine(8)|lung(26)|ovary(2)|prostate(4)|skin(3)|urinary_tract(1)	57	all_neural(191;0.101)|Medulloblastoma(191;0.163)			OV - Ovarian serous cystadenocarcinoma(86;3.02e-06)|Epithelial(86;3.85e-05)|all cancers(50;4.65e-05)		CCAGGTATGACTTTTTTATCGT	0.436																																						dbGAP											0																																										-	-	-	SO:0001589	frameshift_variant	0			AF104260	CCDS9268.1	12q24.33	2014-01-21	2013-02-15		ENSG00000125207	ENSG00000125207		"""Argonaute/PIWI family"""	9007	protein-coding gene	gene with protein product		605571	"""piwi (Drosophila)-like 1"", ""piwi-like 1 (Drosophila)"""			9851978, 12906857	Standard	NM_004764		Approved	PIWI, HIWI, CT80.1	uc001uik.3	Q96J94	OTTHUMG00000168382	ENST00000245255.3:c.2334dupT	12.37:g.130855733_130855733dupT	ENSP00000245255:p.Phe777fs		A4F266|O95404|Q8NA60|Q8TBY5|Q96JD5	Frame_Shift_Ins	INS	pfam_Piwi,pfam_PAZ,pfam_GAGE,superfamily_RNaseH-like_dom,superfamily_PAZ,smart_PAZ,smart_Piwi,pfscan_PAZ,pfscan_Piwi	p.I778fs	ENST00000245255.3	37	c.2328_2329	CCDS9268.1	12																																																																																			PIWIL1	-	pfam_Piwi,superfamily_RNaseH-like_dom,smart_Piwi,pfscan_Piwi	ENSG00000125207		0.436	PIWIL1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	PIWIL1	HGNC	protein_coding	OTTHUMT00000399510.1	659	0.00	0	-			130855727	130855728	+1	no_errors	ENST00000245255	ensembl	human	known	69_37n	frame_shift_ins	264	14.84	46	INS	0.984:1.000	T
PLXNA3	55558	genome.wustl.edu	37	X	153699919	153699919	+	Missense_Mutation	SNP	G	G	A			TCGA-E2-A14X-01A-11D-A10Y-09	TCGA-E2-A14X-10A-01D-A110-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	74039acd-5aca-4c65-818c-3b577d295be0	764eea81-96aa-4302-a9e1-477e4cd25a5d	g.chrX:153699919G>A	ENST00000369682.3	+	32	5633	c.5458G>A	c.(5458-5460)Gac>Aac	p.D1820N		NM_017514.3	NP_059984.3	P51805	PLXA3_HUMAN	plexin A3	1820					axon guidance (GO:0007411)|branchiomotor neuron axon guidance (GO:0021785)|facial nerve structural organization (GO:0021612)|hippocampus development (GO:0021766)|multicellular organismal development (GO:0007275)|negative chemotaxis (GO:0050919)|negative regulation of axon extension involved in axon guidance (GO:0048843)|positive regulation of cytoskeleton organization (GO:0051495)|pyramidal neuron development (GO:0021860)|semaphorin-plexin signaling pathway (GO:0071526)|semaphorin-plexin signaling pathway involved in axon guidance (GO:1902287)|trigeminal nerve structural organization (GO:0021637)	integral component of membrane (GO:0016021)|intracellular (GO:0005622)|membrane (GO:0016020)|plasma membrane (GO:0005886)|semaphorin receptor complex (GO:0002116)	semaphorin receptor activity (GO:0017154)|transmembrane signaling receptor activity (GO:0004888)			breast(2)|central_nervous_system(2)|cervix(2)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(2)|lung(26)|ovary(2)|prostate(1)|upper_aerodigestive_tract(4)|urinary_tract(1)	48	all_cancers(53;5.05e-16)|all_epithelial(53;1.87e-10)|all_lung(58;1.84e-07)|Lung NSC(58;5.84e-07)|all_hematologic(71;2.45e-06)|Acute lymphoblastic leukemia(192;6.56e-05)|Breast(217;0.176)					CCACGCCAGCGACTTCAGCGT	0.562																																						dbGAP											0													90.0	70.0	77.0					X																	153699919		2203	4300	6503	-	-	-	SO:0001583	missense	0			X74609	CCDS14752.1	Xq28	2008-02-05			ENSG00000130827	ENSG00000130827		"""Plexins"""	9101	protein-coding gene	gene with protein product		300022		PLXN4		8248200, 8733135	Standard	NM_017514		Approved	SEX, XAP-6, 6.3, Plxn3	uc004flm.3	P51805	OTTHUMG00000033290	ENST00000369682.3:c.5458G>A	X.37:g.153699919G>A	ENSP00000358696:p.Asp1820Asn		Q5HY36	Missense_Mutation	SNP	pfam_Plexin_cytoplasmic_RasGAP_dom,pfam_Semaphorin/CD100_Ag,pfam_IPT_TIG_rcpt,pfam_Plexin_repeat,superfamily_Semaphorin/CD100_Ag,superfamily_Rho_GTPase_activation_prot,superfamily_Ig_E-set,superfamily_Plexin-like_fold,smart_Semaphorin/CD100_Ag,smart_Plexin-like,smart_IPT_TIG_rcpt,pfscan_Semaphorin/CD100_Ag	p.D1820N	ENST00000369682.3	37	c.5458	CCDS14752.1	X	.	.	.	.	.	.	.	.	.	.	G	21.2	4.120673	0.77323	.	.	ENSG00000130827	ENST00000369682	T	0.11495	2.77	4.93	4.93	0.64822	Plexin, cytoplasmic RasGAP domain (1);Rho GTPase activation protein (1);	0.057204	0.64402	D	0.000002	T	0.09992	0.0245	L	0.28400	0.85	0.51012	D	0.999903	P	0.46859	0.885	B	0.39217	0.294	T	0.05971	-1.0853	10	0.87932	D	0	.	16.0728	0.80946	0.0:0.0:1.0:0.0	.	1820	P51805	PLXA3_HUMAN	N	1820	ENSP00000358696:D1820N	ENSP00000358696:D1820N	D	+	1	0	PLXNA3	153353113	0.998000	0.40836	0.982000	0.44146	0.175000	0.22909	2.693000	0.47027	2.044000	0.60594	0.436000	0.28706	GAC	PLXNA3	-	pfam_Plexin_cytoplasmic_RasGAP_dom,superfamily_Rho_GTPase_activation_prot	ENSG00000130827		0.562	PLXNA3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	PLXNA3	HGNC	protein_coding	OTTHUMT00000081634.1	154	0.00	0	G	NM_017514		153699919	153699919	+1	no_errors	ENST00000369682	ensembl	human	known	69_37n	missense	103	13.45	16	SNP	1.000	A
PXDN	7837	genome.wustl.edu	37	2	1670056	1670056	+	Silent	SNP	G	G	A			TCGA-E2-A14X-01A-11D-A10Y-09	TCGA-E2-A14X-10A-01D-A110-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	74039acd-5aca-4c65-818c-3b577d295be0	764eea81-96aa-4302-a9e1-477e4cd25a5d	g.chr2:1670056G>A	ENST00000252804.4	-	10	1271	c.1221C>T	c.(1219-1221)agC>agT	p.S407S	PXDN_ENST00000483018.1_5'UTR	NM_012293.1	NP_036425.1	Q92626	PXDN_HUMAN	peroxidasin homolog (Drosophila)	407	Ig-like C2-type 2.				extracellular matrix organization (GO:0030198)|hydrogen peroxide catabolic process (GO:0042744)|immune response (GO:0006955)|negative regulation of cytokine-mediated signaling pathway (GO:0001960)|oxidation-reduction process (GO:0055114)	endoplasmic reticulum (GO:0005783)|extracellular matrix (GO:0031012)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|proteinaceous extracellular matrix (GO:0005578)	extracellular matrix structural constituent (GO:0005201)|heme binding (GO:0020037)|interleukin-1 receptor antagonist activity (GO:0005152)|metal ion binding (GO:0046872)|peroxidase activity (GO:0004601)			breast(1)|cervix(3)|endometrium(10)|haematopoietic_and_lymphoid_tissue(3)|kidney(6)|large_intestine(24)|lung(48)|ovary(3)|pancreas(8)|prostate(2)|upper_aerodigestive_tract(1)|urinary_tract(3)	112	Acute lymphoblastic leukemia(172;0.0627)|all_hematologic(175;0.0797)	all_cancers(51;0.0845)|Lung NSC(108;0.00641)|all_epithelial(98;0.00716)		all cancers(51;0.0492)|OV - Ovarian serous cystadenocarcinoma(76;0.0973)|Epithelial(75;0.17)|GBM - Glioblastoma multiforme(21;0.228)		CATACTCTCCGCTGTCCCCCT	0.592																																						dbGAP											0													65.0	70.0	68.0					2																	1670056		2149	4254	6403	-	-	-	SO:0001819	synonymous_variant	0			AF200348	CCDS46221.1	2p25.3	2013-01-11			ENSG00000130508	ENSG00000130508		"""Immunoglobulin superfamily / I-set domain containing"""	14966	protein-coding gene	gene with protein product		605158				10441517, 9039502	Standard	XM_005264707		Approved	KIAA0230, PRG2, MG50, D2S448, D2S448E, PXN	uc002qxa.3	Q92626	OTTHUMG00000059697	ENST00000252804.4:c.1221C>T	2.37:g.1670056G>A			A8QM65|D6W4Y0|Q4KMG2	Missense_Mutation	SNP	pfam_Ig_I-set,pfam_Immunoglobulin,pfam_Ig_V-set,pfam_Leu-rich_rpt,smart_Leu-rich_rpt_typical-subtyp,smart_Cys-rich_flank_reg_C,smart_Ig_sub,smart_Ig_sub2,pfscan_Ig-like	p.A403V	ENST00000252804.4	37	c.1208	CCDS46221.1	2	.	.	.	.	.	.	.	.	.	.	G	0.501	-0.870838	0.02570	.	.	ENSG00000130508	ENST00000433670	.	.	.	4.57	-9.14	0.00701	.	.	.	.	.	T	0.64316	0.2587	.	.	.	0.80722	D	1	.	.	.	.	.	.	T	0.73975	-0.3813	4	.	.	.	-23.9479	17.9369	0.89015	0.8458:0.0:0.1542:0.0	.	.	.	.	V	403	.	.	A	-	2	0	PXDN	1649063	0.001000	0.12720	0.067000	0.19924	0.002000	0.02628	-1.627000	0.02033	-2.494000	0.00514	-0.710000	0.03640	GCG	PXDN	-	pfam_Ig_I-set,pfam_Immunoglobulin,pfam_Ig_V-set,smart_Ig_sub,smart_Ig_sub2,pfscan_Ig-like	ENSG00000130508		0.592	PXDN-001	KNOWN	basic|appris_principal|CCDS	protein_coding	PXDN	HGNC	protein_coding	OTTHUMT00000322505.1	124	0.00	0	G	XM_056455		1670056	1670056	-1	no_start_codon:pseudogene:no_stop_codon:bad_bp_length_for_coding_region	ENST00000433670	ensembl	human	known	69_37n	missense	54	10.00	6	SNP	0.255	A
NELFE	7936	genome.wustl.edu	37	6	31922367	31922367	+	Missense_Mutation	SNP	C	C	T			TCGA-E2-A14X-01A-11D-A10Y-09	TCGA-E2-A14X-10A-01D-A110-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	74039acd-5aca-4c65-818c-3b577d295be0	764eea81-96aa-4302-a9e1-477e4cd25a5d	g.chr6:31922367C>T	ENST00000375429.3	-	7	933	c.707G>A	c.(706-708)cGg>cAg	p.R236Q	NELFE_ENST00000375425.5_Missense_Mutation_p.R243Q|NELFE_ENST00000444811.2_Missense_Mutation_p.R206Q|MIR1236_ENST00000408340.1_RNA	NM_002904.5	NP_002895.3	P18615	NELFE_HUMAN	negative elongation factor complex member E	236	30 X 2 AA approximate tandem repeats of R-[DSNE].				gene expression (GO:0010467)|negative regulation of transcription elongation from RNA polymerase II promoter (GO:0034244)|positive regulation of viral transcription (GO:0050434)|transcription elongation from RNA polymerase II promoter (GO:0006368)|transcription from RNA polymerase II promoter (GO:0006366)|viral process (GO:0016032)	NELF complex (GO:0032021)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	nucleotide binding (GO:0000166)|poly(A) RNA binding (GO:0044822)|RNA binding (GO:0003723)										gtctcgatcccgctcccgatc	0.587																																						dbGAP											0													50.0	53.0	52.0					6																	31922367		2203	4300	6503	-	-	-	SO:0001583	missense	0			M33230	CCDS4730.1	6p21.3	2013-02-12	2013-01-31	2013-01-31	ENSG00000204356	ENSG00000204356		"""RNA binding motif (RRM) containing"""	13974	protein-coding gene	gene with protein product		154040	"""RD RNA-binding protein"", ""RD RNA binding protein"""	RDBP			Standard	XM_006715205		Approved	RD, D6S45, NELF-E, RDP	uc003nyk.3	P18615	OTTHUMG00000031046	ENST00000375429.3:c.707G>A	6.37:g.31922367C>T	ENSP00000364578:p.Arg236Gln		A2BE08|B4DUN1|B4DYX9|Q5JP74|Q5JP75|Q96F56|Q9NPK2	Missense_Mutation	SNP	pfam_RRM_dom,smart_RRM_dom,pfscan_RRM_dom	p.R236Q	ENST00000375429.3	37	c.707	CCDS4730.1	6	.	.	.	.	.	.	.	.	.	.	C	14.26	2.483759	0.44147	.	.	ENSG00000204356	ENST00000375429;ENST00000375425;ENST00000444811;ENST00000441998;ENST00000454913;ENST00000436289	T;T;T;T;T;T	0.62232	0.04;0.04;2.43;0.04;0.04;0.04	5.36	5.36	0.76844	.	0.000000	0.85682	D	0.000000	T	0.74566	0.3733	M	0.78801	2.425	0.53688	D	0.99997	D;D;D;D	0.69078	0.997;0.997;0.997;0.997	D;D;D;D	0.70227	0.953;0.968;0.953;0.953	T	0.73442	-0.3981	10	0.37606	T	0.19	-13.2491	17.8529	0.88752	0.0:1.0:0.0:0.0	.	206;231;231;236	B4DUN1;A2ABK1;E9PCL7;P18615	.;.;.;NELFE_HUMAN	Q	236;243;206;231;236;231	ENSP00000364578:R236Q;ENSP00000364574:R243Q;ENSP00000388400:R206Q;ENSP00000397914:R231Q;ENSP00000409389:R236Q;ENSP00000414029:R231Q	ENSP00000364574:R243Q	R	-	2	0	RDBP	32030346	0.022000	0.18835	0.822000	0.32727	0.027000	0.11550	2.906000	0.48735	2.499000	0.84300	0.655000	0.94253	CGG	RDBP	-	NULL	ENSG00000204356		0.587	NELFE-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	RDBP	HGNC	protein_coding	OTTHUMT00000076047.4	146	0.00	0	C			31922367	31922367	-1	no_errors	ENST00000375429	ensembl	human	known	69_37n	missense	131	11.41	17	SNP	1.000	T
SMTNL2	342527	genome.wustl.edu	37	17	4496467	4496467	+	Splice_Site	SNP	G	G	T	rs202160684	byFrequency	TCGA-E2-A14X-01A-11D-A10Y-09	TCGA-E2-A14X-10A-01D-A110-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	74039acd-5aca-4c65-818c-3b577d295be0	764eea81-96aa-4302-a9e1-477e4cd25a5d	g.chr17:4496467G>T	ENST00000389313.4	+	3	797		c.e3+1		SMTNL2_ENST00000338859.4_Splice_Site	NM_001114974.1	NP_001108446.1	Q2TAL5	SMTL2_HUMAN	smoothelin-like 2									p.?(17)		breast(1)|endometrium(9)|kidney(1)|lung(1)|skin(1)	13				READ - Rectum adenocarcinoma(115;0.0325)		AGTCCTAGCGGTATGAGCTGG	0.657																																						dbGAP											17	Unknown(17)	endometrium(16)|breast(1)											31.0	33.0	33.0					17																	4496467		2203	4300	6503	-	-	-	SO:0001630	splice_region_variant	0			AK124452	CCDS11048.1, CCDS45583.1	17p13.2	2006-04-26			ENSG00000188176	ENSG00000188176			24764	protein-coding gene	gene with protein product							Standard	NM_001114974		Approved	FLJ42461	uc002fyf.1	Q2TAL5	OTTHUMG00000132938	ENST00000389313.4:c.730+1G>T	17.37:g.4496467G>T			Q6ZVK6	Splice_Site	SNP	-	e3+1	ENST00000389313.4	37	c.730+1	CCDS45583.1	17	.	.	.	.	.	.	.	.	.	.	G	12.61	1.990579	0.35131	.	.	ENSG00000188176	ENST00000338859;ENST00000389313	.	.	.	5.0	5.0	0.66597	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	14.5337	0.67944	0.0:0.0:1.0:0.0	.	.	.	.	.	-1	.	.	.	+	.	.	SMTNL2	4443216	1.000000	0.71417	1.000000	0.80357	0.314000	0.28054	3.181000	0.50903	2.722000	0.93159	0.655000	0.94253	.	SMTNL2	-	-	ENSG00000188176		0.657	SMTNL2-002	KNOWN	basic|appris_principal|CCDS	protein_coding	SMTNL2	HGNC	protein_coding	OTTHUMT00000439129.1	54	0.00	0	G	NM_198501	Intron	4496467	4496467	+1	no_errors	ENST00000389313	ensembl	human	known	69_37n	splice_site	26	27.03	10	SNP	0.999	T
TARS	6897	genome.wustl.edu	37	5	33453503	33453503	+	Missense_Mutation	SNP	G	G	A			TCGA-E2-A14X-01A-11D-A10Y-09	TCGA-E2-A14X-10A-01D-A110-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	74039acd-5aca-4c65-818c-3b577d295be0	764eea81-96aa-4302-a9e1-477e4cd25a5d	g.chr5:33453503G>A	ENST00000265112.3	+	4	750	c.439G>A	c.(439-441)Gag>Aag	p.E147K	TARS_ENST00000541634.1_Missense_Mutation_p.E43K|TARS_ENST00000414361.2_Intron|TARS_ENST00000502553.1_Missense_Mutation_p.E147K|TARS_ENST00000455217.2_Missense_Mutation_p.E180K	NM_152295.4	NP_689508.3	P26639	SYTC_HUMAN	threonyl-tRNA synthetase	147					gene expression (GO:0010467)|threonyl-tRNA aminoacylation (GO:0006435)|translation (GO:0006412)|tRNA aminoacylation for protein translation (GO:0006418)	actin cytoskeleton (GO:0015629)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)	ATP binding (GO:0005524)|protein homodimerization activity (GO:0042803)|threonine-tRNA ligase activity (GO:0004829)			NS(1)|biliary_tract(1)|breast(2)|endometrium(3)|kidney(1)|large_intestine(7)|lung(11)|ovary(2)|prostate(1)	29					L-Threonine(DB00156)	GTTTGAGGATGAGGAAGCTCA	0.448																																						dbGAP											0													111.0	114.0	113.0					5																	33453503		2203	4300	6503	-	-	-	SO:0001583	missense	0			AK095852	CCDS3899.1, CCDS58943.1	5p13.2	2012-10-02			ENSG00000113407	ENSG00000113407	6.1.1.3	"""Aminoacyl tRNA synthetases / Class II"""	11572	protein-coding gene	gene with protein product	"""threonine tRNA ligase 1, cytoplasmic"""	187790					Standard	NM_152295		Approved		uc011coc.3	P26639	OTTHUMG00000090683	ENST00000265112.3:c.439G>A	5.37:g.33453503G>A	ENSP00000265112:p.Glu147Lys		A8K8I1|B4DEG8|Q96FP5|Q9BWA6	Missense_Mutation	SNP	pfam_aa-tRNA-synt_IIb_cons-dom,pfam_Anticodon-bd,pfam_TGS,pfam_tRNA_SAD,superfamily_Thr/Ala-tRNA-synth_IIc_edit,superfamily_Anticodon-bd,superfamily_TGS-like,smart_tRNA_SAD,prints_Thr-tRNA-synth_IIa,pfscan_aa-tRNA-synth_II,tigrfam_Thr-tRNA-synth_IIa	p.E147K	ENST00000265112.3	37	c.439	CCDS3899.1	5	.	.	.	.	.	.	.	.	.	.	G	13.58	2.279341	0.40294	.	.	ENSG00000113407	ENST00000502553;ENST00000265112;ENST00000541634;ENST00000455217	T;T;T;T	0.04706	3.57;3.57;3.57;3.57	5.78	5.78	0.91487	Threonyl/alanyl tRNA synthetase, class II-like, putative editing domain (1);	0.000000	0.85682	D	0.000000	T	0.07818	0.0196	L	0.52266	1.64	0.80722	D	1	B;B;B	0.19706	0.038;0.02;0.009	B;B;B	0.18561	0.022;0.02;0.013	T	0.35748	-0.9776	10	0.21014	T	0.42	-12.67	20.0713	0.97726	0.0:0.0:1.0:0.0	.	180;43;147	B4DEG8;G3XAN9;P26639	.;.;SYTC_HUMAN	K	147;147;43;180	ENSP00000424387:E147K;ENSP00000265112:E147K;ENSP00000438469:E43K;ENSP00000387710:E180K	ENSP00000265112:E147K	E	+	1	0	TARS	33489260	1.000000	0.71417	1.000000	0.80357	0.091000	0.18340	9.869000	0.99810	2.751000	0.94390	0.585000	0.79938	GAG	TARS	-	superfamily_Thr/Ala-tRNA-synth_IIc_edit	ENSG00000113407		0.448	TARS-001	KNOWN	basic|appris_principal|CCDS	protein_coding	TARS	HGNC	protein_coding	OTTHUMT00000207367.1	228	0.00	0	G	NM_152295		33453503	33453503	+1	no_errors	ENST00000265112	ensembl	human	known	69_37n	missense	113	17.52	24	SNP	1.000	A
TLR3	7098	genome.wustl.edu	37	4	187003591	187003591	+	Missense_Mutation	SNP	C	C	T			TCGA-E2-A14X-01A-11D-A10Y-09	TCGA-E2-A14X-10A-01D-A110-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	74039acd-5aca-4c65-818c-3b577d295be0	764eea81-96aa-4302-a9e1-477e4cd25a5d	g.chr4:187003591C>T	ENST00000296795.3	+	4	855	c.751C>T	c.(751-753)Cgg>Tgg	p.R251W	TLR3_ENST00000504367.1_5'UTR|TLR3_ENST00000508051.1_3'UTR	NM_003265.2	NP_003256.1	O15455	TLR3_HUMAN	toll-like receptor 3	251					activation of NF-kappaB-inducing kinase activity (GO:0007250)|cellular response to drug (GO:0035690)|cellular response to exogenous dsRNA (GO:0071360)|cellular response to interferon-beta (GO:0035458)|cellular response to interferon-gamma (GO:0071346)|cellular response to mechanical stimulus (GO:0071260)|defense response to bacterium (GO:0042742)|defense response to virus (GO:0051607)|detection of virus (GO:0009597)|extrinsic apoptotic signaling pathway (GO:0097191)|hyperosmotic response (GO:0006972)|I-kappaB kinase/NF-kappaB signaling (GO:0007249)|I-kappaB phosphorylation (GO:0007252)|inflammatory response (GO:0006954)|innate immune response (GO:0045087)|male gonad development (GO:0008584)|microglial cell activation involved in immune response (GO:0002282)|MyD88-independent toll-like receptor signaling pathway (GO:0002756)|necroptotic signaling pathway (GO:0097527)|negative regulation of osteoclast differentiation (GO:0045671)|pathogen-associated molecular pattern dependent induction by symbiont of host innate immune response (GO:0052033)|positive regulation of apoptotic process (GO:0043065)|positive regulation of chemokine biosynthetic process (GO:0045080)|positive regulation of chemokine production (GO:0032722)|positive regulation of I-kappaB kinase/NF-kappaB signaling (GO:0043123)|positive regulation of inflammatory response (GO:0050729)|positive regulation of interferon-alpha biosynthetic process (GO:0045356)|positive regulation of interferon-beta biosynthetic process (GO:0045359)|positive regulation of interferon-beta production (GO:0032728)|positive regulation of interferon-gamma biosynthetic process (GO:0045078)|positive regulation of interleukin-12 production (GO:0032735)|positive regulation of interleukin-6 production (GO:0032755)|positive regulation of interleukin-8 production (GO:0032757)|positive regulation of JNK cascade (GO:0046330)|positive regulation of NF-kappaB import into nucleus (GO:0042346)|positive regulation of NF-kappaB transcription factor activity (GO:0051092)|positive regulation of toll-like receptor signaling pathway (GO:0034123)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of tumor necrosis factor production (GO:0032760)|positive regulation of type III interferon production (GO:0034346)|response to exogenous dsRNA (GO:0043330)|signal transduction (GO:0007165)|toll-like receptor 3 signaling pathway (GO:0034138)|toll-like receptor 4 signaling pathway (GO:0034142)|toll-like receptor signaling pathway (GO:0002224)|TRIF-dependent toll-like receptor signaling pathway (GO:0035666)	cytoplasm (GO:0005737)|endolysosome membrane (GO:0036020)|endoplasmic reticulum membrane (GO:0005789)|endosome membrane (GO:0010008)|Golgi membrane (GO:0000139)|integral component of plasma membrane (GO:0005887)|lysosomal membrane (GO:0005765)|membrane (GO:0016020)	double-stranded RNA binding (GO:0003725)|receptor activity (GO:0004872)|transmembrane signaling receptor activity (GO:0004888)			breast(1)|endometrium(5)|large_intestine(8)|lung(8)|ovary(2)|prostate(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)	29		all_cancers(14;4.27e-52)|all_epithelial(14;7.69e-39)|all_lung(41;1.34e-13)|Lung NSC(41;3.58e-13)|Melanoma(20;1.91e-06)|Colorectal(36;0.0066)|Hepatocellular(41;0.00886)|Renal(120;0.00988)|Prostate(90;0.00996)|all_hematologic(60;0.014)|all_neural(102;0.243)		OV - Ovarian serous cystadenocarcinoma(60;1.47e-11)|BRCA - Breast invasive adenocarcinoma(30;1.14e-05)|GBM - Glioblastoma multiforme(59;0.000107)|STAD - Stomach adenocarcinoma(60;0.000279)|LUSC - Lung squamous cell carcinoma(40;0.00902)|READ - Rectum adenocarcinoma(43;0.16)		CACAAGCATTCGGAATCTGTC	0.443																																						dbGAP											0													127.0	121.0	123.0					4																	187003591		2203	4300	6503	-	-	-	SO:0001583	missense	0			U88879	CCDS3846.1	4q35	2014-09-17				ENSG00000164342		"""CD molecules"""	11849	protein-coding gene	gene with protein product		603029				9435236	Standard	NM_003265		Approved	CD283	uc003iyq.3	O15455		ENST00000296795.3:c.751C>T	4.37:g.187003591C>T	ENSP00000296795:p.Arg251Trp		B2RAI7|B7Z7K0|E6Y0F0|E6Y0F1|E9PGH4|Q4VAL2|Q504W0	Missense_Mutation	SNP	pfam_TIR_dom,pfam_Leu-rich_rpt,superfamily_TIR_dom,smart_Leu-rich_rpt_typical-subtyp,smart_Cys-rich_flank_reg_C,smart_TIR_dom,pfscan_TIR_dom	p.R251W	ENST00000296795.3	37	c.751	CCDS3846.1	4	.	.	.	.	.	.	.	.	.	.	C	11.05	1.524836	0.27299	.	.	ENSG00000164342	ENST00000296795;ENST00000513189;ENST00000542020	T;T	0.81078	-1.45;-1.45	5.33	2.6	0.31112	.	0.689756	0.16027	N	0.233035	D	0.86431	0.5931	M	0.83603	2.65	0.18873	N	0.999981	D	0.71674	0.998	P	0.59221	0.854	T	0.76639	-0.2885	10	0.87932	D	0	.	7.1775	0.25753	0.1302:0.6766:0.1252:0.068	.	251	O15455	TLR3_HUMAN	W	251	ENSP00000296795:R251W;ENSP00000423386:R251W	ENSP00000296795:R251W	R	+	1	2	TLR3	187240585	0.704000	0.27836	0.048000	0.18961	0.330000	0.28571	1.001000	0.29783	0.308000	0.22923	0.460000	0.39030	CGG	TLR3	-	NULL	ENSG00000164342		0.443	TLR3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	TLR3	HGNC	protein_coding	OTTHUMT00000360313.4	367	0.00	0	C			187003591	187003591	+1	no_errors	ENST00000296795	ensembl	human	known	69_37n	missense	109	35.50	60	SNP	0.006	T
TP53	7157	genome.wustl.edu	37	17	7578212	7578212	+	Nonsense_Mutation	SNP	G	G	A	rs397516436		TCGA-E2-A14X-01A-11D-A10Y-09	TCGA-E2-A14X-10A-01D-A110-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	74039acd-5aca-4c65-818c-3b577d295be0	764eea81-96aa-4302-a9e1-477e4cd25a5d	g.chr17:7578212G>A	ENST00000269305.4	-	6	826	c.637C>T	c.(637-639)Cga>Tga	p.R213*	TP53_ENST00000413465.2_Nonsense_Mutation_p.R213*|TP53_ENST00000445888.2_Nonsense_Mutation_p.R213*|TP53_ENST00000455263.2_Nonsense_Mutation_p.R213*|TP53_ENST00000420246.2_Nonsense_Mutation_p.R213*|TP53_ENST00000359597.4_Nonsense_Mutation_p.R213*|TP53_ENST00000574684.1_Intron	NM_000546.5|NM_001126112.2|NM_001126118.1|NM_001276760.1|NM_001276761.1	NP_000537.3|NP_001119584.1|NP_001119590.1|NP_001263689.1|NP_001263690.1	P04637	P53_HUMAN	tumor protein p53	213	Interaction with AXIN1. {ECO:0000250}.|Interaction with HIPK1. {ECO:0000250}.|Required for interaction with FBXO42.|Required for interaction with ZNF385A.		R -> G (in sporadic cancers; somatic mutation).|R -> L (in sporadic cancers; somatic mutation).|R -> P (in LFS; germline mutation and in sporadic cancers; somatic mutation). {ECO:0000269|PubMed:16959974}.|R -> Q (in LFS; germline mutation and in sporadic cancers; somatic mutation).|R -> W (in sporadic cancers; somatic mutation).		apoptotic process (GO:0006915)|B cell lineage commitment (GO:0002326)|base-excision repair (GO:0006284)|blood coagulation (GO:0007596)|cell aging (GO:0007569)|cell cycle arrest (GO:0007050)|cell differentiation (GO:0030154)|cell proliferation (GO:0008283)|cellular protein localization (GO:0034613)|cellular response to DNA damage stimulus (GO:0006974)|cellular response to drug (GO:0035690)|cellular response to glucose starvation (GO:0042149)|cellular response to hypoxia (GO:0071456)|cellular response to ionizing radiation (GO:0071479)|cellular response to UV (GO:0034644)|cerebellum development (GO:0021549)|chromatin assembly (GO:0031497)|determination of adult lifespan (GO:0008340)|DNA damage response, signal transduction by p53 class mediator (GO:0030330)|DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest (GO:0006977)|DNA damage response, signal transduction by p53 class mediator resulting in transcription of p21 class mediator (GO:0006978)|DNA strand renaturation (GO:0000733)|double-strand break repair (GO:0006302)|embryonic organ development (GO:0048568)|ER overload response (GO:0006983)|gastrulation (GO:0007369)|in utero embryonic development (GO:0001701)|intrinsic apoptotic signaling pathway (GO:0097193)|intrinsic apoptotic signaling pathway by p53 class mediator (GO:0072332)|intrinsic apoptotic signaling pathway in response to DNA damage by p53 class mediator (GO:0042771)|mitotic cell cycle arrest (GO:0071850)|mitotic G1 DNA damage checkpoint (GO:0031571)|multicellular organism growth (GO:0035264)|multicellular organismal development (GO:0007275)|necroptotic process (GO:0070266)|negative regulation of apoptotic process (GO:0043066)|negative regulation of cell growth (GO:0030308)|negative regulation of cell proliferation (GO:0008285)|negative regulation of DNA replication (GO:0008156)|negative regulation of fibroblast proliferation (GO:0048147)|negative regulation of helicase activity (GO:0051097)|negative regulation of macromitophagy (GO:1901525)|negative regulation of neuroblast proliferation (GO:0007406)|negative regulation of reactive oxygen species metabolic process (GO:2000378)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|negative regulation of transcription, DNA-templated (GO:0045892)|negative regulation of transforming growth factor beta receptor signaling pathway (GO:0030512)|neuron apoptotic process (GO:0051402)|Notch signaling pathway (GO:0007219)|nucleotide-excision repair (GO:0006289)|oligodendrocyte apoptotic process (GO:0097252)|oxidative stress-induced premature senescence (GO:0090403)|positive regulation of apoptotic process (GO:0043065)|positive regulation of cardiac muscle cell apoptotic process (GO:0010666)|positive regulation of cell aging (GO:0090343)|positive regulation of cell cycle arrest (GO:0071158)|positive regulation of histone deacetylation (GO:0031065)|positive regulation of intrinsic apoptotic signaling pathway (GO:2001244)|positive regulation of mitochondrial membrane permeability (GO:0035794)|positive regulation of neuron apoptotic process (GO:0043525)|positive regulation of peptidyl-tyrosine phosphorylation (GO:0050731)|positive regulation of protein insertion into mitochondrial membrane involved in apoptotic signaling pathway (GO:1900740)|positive regulation of protein oligomerization (GO:0032461)|positive regulation of reactive oxygen species metabolic process (GO:2000379)|positive regulation of release of cytochrome c from mitochondria (GO:0090200)|positive regulation of thymocyte apoptotic process (GO:0070245)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription, DNA-templated (GO:0045893)|protein complex assembly (GO:0006461)|protein import into nucleus, translocation (GO:0000060)|protein localization (GO:0008104)|protein tetramerization (GO:0051262)|Ras protein signal transduction (GO:0007265)|regulation of apoptotic process (GO:0042981)|regulation of mitochondrial membrane permeability (GO:0046902)|regulation of mitochondrial membrane permeability involved in apoptotic process (GO:1902108)|regulation of tissue remodeling (GO:0034103)|regulation of transcription, DNA-templated (GO:0006355)|release of cytochrome c from mitochondria (GO:0001836)|replicative senescence (GO:0090399)|response to antibiotic (GO:0046677)|response to gamma radiation (GO:0010332)|response to ischemia (GO:0002931)|response to salt stress (GO:0009651)|response to X-ray (GO:0010165)|rRNA transcription (GO:0009303)|somitogenesis (GO:0001756)|T cell differentiation in thymus (GO:0033077)|T cell lineage commitment (GO:0002360)|T cell proliferation involved in immune response (GO:0002309)|transforming growth factor beta receptor signaling pathway (GO:0007179)|viral process (GO:0016032)	chromatin (GO:0000785)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|endoplasmic reticulum (GO:0005783)|mitochondrial matrix (GO:0005759)|mitochondrion (GO:0005739)|nuclear chromatin (GO:0000790)|nuclear matrix (GO:0016363)|nucleolus (GO:0005730)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|PML body (GO:0016605)|protein complex (GO:0043234)|replication fork (GO:0005657)	ATP binding (GO:0005524)|chaperone binding (GO:0051087)|chromatin binding (GO:0003682)|copper ion binding (GO:0005507)|damaged DNA binding (GO:0003684)|DNA binding (GO:0003677)|enzyme binding (GO:0019899)|histone acetyltransferase binding (GO:0035035)|histone deacetylase regulator activity (GO:0035033)|identical protein binding (GO:0042802)|p53 binding (GO:0002039)|protease binding (GO:0002020)|protein heterodimerization activity (GO:0046982)|protein kinase binding (GO:0019901)|protein N-terminus binding (GO:0047485)|protein phosphatase 2A binding (GO:0051721)|protein phosphatase binding (GO:0019903)|receptor tyrosine kinase binding (GO:0030971)|RNA polymerase II core promoter proximal region sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription (GO:0001077)|RNA polymerase II core promoter sequence-specific DNA binding (GO:0000979)|RNA polymerase II transcription factor binding (GO:0001085)|RNA polymerase II transcription regulatory region sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription (GO:0001228)|sequence-specific DNA binding transcription factor activity (GO:0003700)|transcription factor binding (GO:0008134)|transcription regulatory region DNA binding (GO:0044212)|ubiquitin protein ligase binding (GO:0031625)|zinc ion binding (GO:0008270)	p.R213*(250)|p.R81*(21)|p.R120*(21)|p.0?(8)|p.?(5)|p.R213G(5)|p.R213fs*35(3)|p.R213fs*34(3)|p.D208_V216delDRNTFRHSV(1)|p.R120G(1)|p.D207_R213delDDRNTFR(1)|p.T211_S215delTFRHS(1)|p.R81fs*>11(1)|p.D208fs*1(1)|p.R120fs*35(1)|p.R81G(1)|p.R209_R213delRNTFR(1)|p.R213fs*2(1)|p.T211fs*28(1)|p.R213_S215>X(1)|p.D207_V216del10(1)|p.R213R(1)|p.R213fs*32(1)|p.R209fs*6(1)|p.R213W(1)		NS(16)|adrenal_gland(37)|autonomic_ganglia(16)|biliary_tract(273)|bone(108)|breast(2530)|central_nervous_system(1264)|cervix(68)|endometrium(223)|eye(24)|fallopian_tube(1)|gastrointestinal_tract_(site_indeterminate)(1)|genital_tract(16)|haematopoietic_and_lymphoid_tissue(1301)|kidney(96)|large_intestine(5124)|liver(897)|lung(2388)|meninges(5)|oesophagus(1473)|ovary(1659)|pancreas(452)|penis(10)|peritoneum(33)|pituitary(4)|placenta(1)|pleura(3)|prostate(235)|salivary_gland(43)|skin(791)|small_intestine(14)|soft_tissue(220)|stomach(1158)|testis(11)|thymus(21)|thyroid(54)|upper_aerodigestive_tract(2271)|urinary_tract(1259)|vagina(6)|vulva(79)	24185		all_cancers(10;1.01e-06)|Myeloproliferative disorder(207;0.0122)|Prostate(122;0.081)		GBM - Glioblastoma multiforme(2;1.59e-06)|READ - Rectum adenocarcinoma(115;0.174)	Acetylsalicylic acid(DB00945)	ACACTATGTCGAAAAGTGTTT	0.532		111	"""Mis, N, F"""		"""breast, colorectal, lung, sarcoma, adrenocortical, glioma, multiple other tumour types"""	"""breast, sarcoma, adrenocortical carcinoma, glioma, multiple other tumour types"""		Other conserved DNA damage response genes	Osteosarcoma, Familial Clustering of;Li-Fraumeni syndrome;Hereditary Breast-Ovarian Cancer, non-BRCA1/2;Hereditary Adrenocortical Cancer;Endometrial Cancer, Familial Clustering of	HNSCC(1;<9.43e-08)|TCGA GBM(1;<1E-08)|TSP Lung(2;<1E-08)|TCGA Ovarian(1;<1.89e-07)|Multiple Myeloma(5;0.019)																											Pancreas(47;798 1329 9957 10801)	dbGAP	yes	Rec	yes	Li-Fraumeni syndrome	17	17p13	7157	tumor protein p53		"""L, E, M, O"""	333	Substitution - Nonsense(292)|Deletion - Frameshift(8)|Whole gene deletion(8)|Substitution - Missense(8)|Deletion - In frame(5)|Insertion - Frameshift(5)|Unknown(5)|Complex - deletion inframe(1)|Substitution - coding silent(1)	large_intestine(89)|breast(45)|lung(37)|upper_aerodigestive_tract(30)|central_nervous_system(18)|skin(16)|oesophagus(15)|stomach(14)|ovary(14)|haematopoietic_and_lymphoid_tissue(10)|urinary_tract(9)|biliary_tract(8)|liver(8)|soft_tissue(5)|endometrium(5)|bone(4)|prostate(3)|thyroid(1)|pancreas(1)|autonomic_ganglia(1)	GRCh37	CM951226	TP53	M							132.0	118.0	123.0					17																	7578212		2203	4300	6503	-	-	-	SO:0001587	stop_gained	0	Familial Cancer Database	Familial Osteogenic Sarcoma;LFS, SBLA syndrome (Sarcoma Breast Leukemia Adrenal cancer), incl.: Cancer with In Vitro Radioresistence, Familial, Li-Fraumeni-like s.;BRCAX;Familial Adrenocortical Carcinoma;	AF307851	CCDS11118.1, CCDS45605.1, CCDS45606.1, CCDS73963.1, CCDS73964.1, CCDS73965.1, CCDS73966.1, CCDS73967.1, CCDS73968.1, CCDS73969.1, CCDS73970.1, CCDS73971.1	17p13.1	2014-09-17	2008-01-16		ENSG00000141510	ENSG00000141510			11998	protein-coding gene	gene with protein product	"""Li-Fraumeni syndrome"""	191170				6396087, 3456488, 2047879	Standard	NM_001126115		Approved	p53, LFS1	uc002gij.3	P04637	OTTHUMG00000162125	ENST00000269305.4:c.637C>T	17.37:g.7578212G>A	ENSP00000269305:p.Arg213*		Q15086|Q15087|Q15088|Q16535|Q16807|Q16808|Q16809|Q16810|Q16811|Q16848|Q2XN98|Q3LRW1|Q3LRW2|Q3LRW3|Q3LRW4|Q3LRW5|Q86UG1|Q8J016|Q99659|Q9BTM4|Q9HAQ8|Q9NP68|Q9NPJ2|Q9NZD0|Q9UBI2|Q9UQ61	Nonsense_Mutation	SNP	pfam_p53_DNA-bd,pfam_p53_tetrameristn,pfam_p53_transactivation_domain,superfamily_p53-like_TF_DNA-bd,superfamily_p53_tetrameristn,prints_p53_tumour_suppressor	p.R213*	ENST00000269305.4	37	c.637	CCDS11118.1	17	.	.	.	.	.	.	.	.	.	.	G	37	6.039727	0.97226	.	.	ENSG00000141510	ENST00000413465;ENST00000359597;ENST00000269305;ENST00000455263;ENST00000420246;ENST00000445888;ENST00000396473;ENST00000545858;ENST00000509690;ENST00000514944;ENST00000414315	.	.	.	5.28	3.25	0.37280	.	0.057335	0.64402	D	0.000003	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	-7.5444	12.7263	0.57173	0.0:0.0:0.701:0.299	.	.	.	.	X	213;213;213;213;213;213;202;120;81;120;81	.	ENSP00000269305:R213X	R	-	1	2	TP53	7518937	0.971000	0.33674	0.123000	0.21794	0.957000	0.61999	1.659000	0.37387	0.702000	0.31825	0.563000	0.77884	CGA	TP53	-	pfam_p53_DNA-bd,superfamily_p53-like_TF_DNA-bd,prints_p53_tumour_suppressor	ENSG00000141510		0.532	TP53-001	KNOWN	basic|appris_principal|CCDS	protein_coding	TP53	HGNC	protein_coding	OTTHUMT00000367397.1	555	0.00	0	G	NM_000546		7578212	7578212	-1	no_errors	ENST00000269305	ensembl	human	known	69_37n	nonsense	166	36.60	97	SNP	0.893	A
TUBA3C	7278	genome.wustl.edu	37	13	19748195	19748195	+	Silent	SNP	G	G	A			TCGA-E2-A14X-01A-11D-A10Y-09	TCGA-E2-A14X-10A-01D-A110-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	74039acd-5aca-4c65-818c-3b577d295be0	764eea81-96aa-4302-a9e1-477e4cd25a5d	g.chr13:19748195G>A	ENST00000400113.3	-	5	1265	c.1161C>T	c.(1159-1161)gcC>gcT	p.A387A		NM_006001.2	NP_005992.1	Q13748	TBA3C_HUMAN	tubulin, alpha 3c	387					'de novo' posttranslational protein folding (GO:0051084)|cellular protein metabolic process (GO:0044267)|microtubule-based process (GO:0007017)|protein folding (GO:0006457)|protein polymerization (GO:0051258)	cytoplasm (GO:0005737)|microtubule (GO:0005874)|nucleus (GO:0005634)	GTP binding (GO:0005525)|GTPase activity (GO:0003924)|structural constituent of cytoskeleton (GO:0005200)			NS(1)|biliary_tract(1)|breast(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(12)|lung(33)|ovary(4)|prostate(7)|skin(7)|urinary_tract(1)	72		all_cancers(29;1.31e-20)|all_epithelial(30;1.59e-20)|all_lung(29;6.91e-20)|Lung NSC(5;9.25e-17)|Hepatocellular(1;0.0207)|Lung SC(185;0.0262)|Ovarian(182;0.162)		all cancers(112;6.78e-06)|Epithelial(112;3.79e-05)|OV - Ovarian serous cystadenocarcinoma(117;0.00172)|Lung(94;0.0186)|LUSC - Lung squamous cell carcinoma(192;0.108)		GGCGAGCCCAGGCCTCCGCGA	0.627																																						dbGAP											0													106.0	95.0	99.0					13																	19748195		2203	4300	6503	-	-	-	SO:0001819	synonymous_variant	0			AF005392	CCDS9284.1	13q12.11	2007-06-20	2007-02-12	2007-02-12	ENSG00000198033	ENSG00000198033		"""Tubulins"""	12408	protein-coding gene	gene with protein product		602528	"""tubulin, alpha 2"""	TUBA2		9465305	Standard	NM_006001		Approved	bA408E5.3	uc009zzj.3	Q13748	OTTHUMG00000016481	ENST00000400113.3:c.1161C>T	13.37:g.19748195G>A			A6NJQ0|Q5W099|Q6PEY3|Q96F18	Silent	SNP	pfam_Tubulin_FtsZ_GTPase,pfam_Tubulin/FtsZ_2-layer-sand-dom,superfamily_Tubulin_FtsZ_GTPase,superfamily_Tub_FtsZ_C,smart_Tubulin_FtsZ_GTPase,smart_Tubulin/FtsZ_2-layer-sand-dom,prints_Alpha_tubulin,prints_Tubulin,prints_Epsilon_tubulin,prints_Delta_tubulin,prints_Beta_tubulin	p.A387	ENST00000400113.3	37	c.1161	CCDS9284.1	13																																																																																			TUBA3C	-	pfam_Tubulin/FtsZ_2-layer-sand-dom,superfamily_Tub_FtsZ_C,smart_Tubulin/FtsZ_2-layer-sand-dom,prints_Alpha_tubulin,prints_Tubulin,prints_Delta_tubulin	ENSG00000198033		0.627	TUBA3C-002	KNOWN	not_best_in_genome_evidence|basic|appris_principal|CCDS	protein_coding	TUBA3C	HGNC	protein_coding	OTTHUMT00000044007.2	260	0.00	0	G	NM_006001		19748195	19748195	-1	no_errors	ENST00000400113	ensembl	human	known	69_37n	silent	186	15.45	34	SNP	1.000	A
WFIKKN1	117166	genome.wustl.edu	37	16	682837	682837	+	Missense_Mutation	SNP	G	G	A			TCGA-E2-A14X-01A-11D-A10Y-09	TCGA-E2-A14X-10A-01D-A110-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	74039acd-5aca-4c65-818c-3b577d295be0	764eea81-96aa-4302-a9e1-477e4cd25a5d	g.chr16:682837G>A	ENST00000319070.2	+	2	749	c.427G>A	c.(427-429)Gcc>Acc	p.A143T		NM_053284.2	NP_444514.1	Q96NZ8	WFKN1_HUMAN	WAP, follistatin/kazal, immunoglobulin, kunitz and netrin domain containing 1	143	Kazal-like. {ECO:0000255|PROSITE- ProRule:PRU00798}.				muscle fiber development (GO:0048747)|negative regulation of DNA binding (GO:0043392)|negative regulation of protein binding (GO:0032091)|palate development (GO:0060021)|skeletal system development (GO:0001501)	extracellular region (GO:0005576)	metalloendopeptidase inhibitor activity (GO:0008191)|serine-type endopeptidase inhibitor activity (GO:0004867)			breast(1)|endometrium(1)|prostate(1)|upper_aerodigestive_tract(1)	4		Hepatocellular(780;0.00335)				CTATATGGACGCCGAGGCCTG	0.716																																						dbGAP											0													19.0	20.0	20.0					16																	682837		2171	4274	6445	-	-	-	SO:0001583	missense	0			AK075356	CCDS10414.1	16p13	2013-01-21			ENSG00000127578	ENSG00000127578		"""Immunoglobulin superfamily / I-set domain containing"", ""WAP four-disulfide core domain containing"""	30912	protein-coding gene	gene with protein product	"""WAP four-disulfide core domain 20A"""	608021	"""chromosome 16 open reading frame 12"""	C16orf12		11274388, 11928817	Standard	NM_053284		Approved	RJD2, WFIKKN, WFDC20A	uc002cht.1	Q96NZ8	OTTHUMG00000090359	ENST00000319070.2:c.427G>A	16.37:g.682837G>A	ENSP00000324763:p.Ala143Thr		Q7LDW0|Q8NBQ1|Q96S20	Missense_Mutation	SNP	pfam_Prot_inh_Kunz-m,pfam_Ig_I-set,pfam_Ig_V-set,pfam_Whey_acidic_protein_4-diS_core,pfam_Kazal-type_dom,pfam_Immunoglobulin,pfam_Netrin_module_non-TIMP,superfamily_TIMP-like_OB-fold,superfamily_Prot_inh_Kunz-m,superfamily_Whey_acidic_protein_4-diS_core,smart_Whey_acidic_protein_4-diS_core,smart_Ig_sub,smart_Ig_sub2,smart_Prot_inh_Kunz-m,pfscan_Netrin_domain,pfscan_Prot_inh_Kunz-m,pfscan_Ig-like,prints_Prot_inh_Kunz-m	p.A143T	ENST00000319070.2	37	c.427	CCDS10414.1	16	.	.	.	.	.	.	.	.	.	.	g	18.83	3.706195	0.68615	.	.	ENSG00000127578	ENST00000319070	T	0.05199	3.48	4.93	4.93	0.64822	Proteinase inhibitor I1, Kazal (1);Protease inhibitor, Kazal-type (1);	0.000000	0.85682	D	0.000000	T	0.26738	0.0654	M	0.77820	2.39	0.53688	D	0.999977	D	0.89917	1.0	D	0.79784	0.993	T	0.01734	-1.1285	10	0.72032	D	0.01	.	16.7096	0.85381	0.0:0.0:1.0:0.0	.	143	Q96NZ8	WFKN1_HUMAN	T	143	ENSP00000324763:A143T	ENSP00000324763:A143T	A	+	1	0	WFIKKN1	622838	1.000000	0.71417	0.153000	0.22517	0.037000	0.13140	5.608000	0.67654	2.293000	0.77203	0.486000	0.48141	GCC	WFIKKN1	-	pfam_Kazal-type_dom	ENSG00000127578		0.716	WFIKKN1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	WFIKKN1	HGNC	protein_coding	OTTHUMT00000206731.2	21	0.00	0	G	NM_053284		682837	682837	+1	no_errors	ENST00000319070	ensembl	human	known	69_37n	missense	9	40.00	6	SNP	0.996	A
USP31	57478	genome.wustl.edu	37	16	23116870	23116870	+	Silent	SNP	T	T	C			TCGA-E2-A14X-01A-11D-A10Y-09	TCGA-E2-A14X-10A-01D-A110-09	T	T					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	74039acd-5aca-4c65-818c-3b577d295be0	764eea81-96aa-4302-a9e1-477e4cd25a5d	g.chr16:23116870T>C	ENST00000219689.7	-	5	980	c.981A>G	c.(979-981)caA>caG	p.Q327Q		NM_020718.3	NP_065769.3	Q86UV5	UBP48_HUMAN	ubiquitin specific peptidase 31	0	USP.				ubiquitin-dependent protein catabolic process (GO:0006511)	cytoplasm (GO:0005737)|mitochondrion (GO:0005739)|nucleus (GO:0005634)	ubiquitin-specific protease activity (GO:0004843)			breast(4)|central_nervous_system(2)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(13)|lung(17)|ovary(4)|pancreas(1)|prostate(1)|skin(2)|stomach(1)|urinary_tract(2)	57				GBM - Glioblastoma multiforme(48;0.0187)		AACATTTGCCTTGATACACTA	0.433																																						dbGAP											0													110.0	89.0	96.0					16																	23116870		2197	4300	6497	-	-	-	SO:0001819	synonymous_variant	0			AB033029	CCDS10607.1	16p12.3	2008-02-05	2005-08-08		ENSG00000103404	ENSG00000103404		"""Ubiquitin-specific peptidases"""	20060	protein-coding gene	gene with protein product			"""ubiquitin specific protease 31"""			12838346	Standard	NM_020718		Approved	KIAA1203	uc002dll.3	Q70CQ4	OTTHUMG00000094793	ENST00000219689.7:c.981A>G	16.37:g.23116870T>C			B7ZKS7|Q2M3I4|Q5SZI4|Q5T3T5|Q6NX53|Q8N3F6|Q96F64|Q96IQ3|Q9H5N3|Q9H5T7|Q9NUJ6|Q9NXR0	Silent	SNP	pfam_Peptidase_C19,pfscan_Peptidase_C19	p.Q327	ENST00000219689.7	37	c.981	CCDS10607.1	16																																																																																			USP31	-	pfam_Peptidase_C19,pfscan_Peptidase_C19	ENSG00000103404		0.433	USP31-001	KNOWN	basic|appris_principal|CCDS	protein_coding	USP31	HGNC	protein_coding	OTTHUMT00000211607.1	267	0.00	0	T	NM_020718		23116870	23116870	-1	no_errors	ENST00000219689	ensembl	human	known	69_37n	silent	139	25.53	48	SNP	0.998	C
ZNF106	64397	genome.wustl.edu	37	15	42740787	42740787	+	Missense_Mutation	SNP	G	G	C			TCGA-E2-A14X-01A-11D-A10Y-09	TCGA-E2-A14X-10A-01D-A110-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	74039acd-5aca-4c65-818c-3b577d295be0	764eea81-96aa-4302-a9e1-477e4cd25a5d	g.chr15:42740787G>C	ENST00000263805.4	-	3	2875	c.2549C>G	c.(2548-2550)tCg>tGg	p.S850W	ZNF106_ENST00000565611.1_Missense_Mutation_p.S35W|ZNF106_ENST00000565380.1_Missense_Mutation_p.S78W	NM_001284306.1|NM_001284307.1|NM_022473.1	NP_001271235.1|NP_001271236.1|NP_071918.1	Q9H2Y7	ZN106_HUMAN	zinc finger protein 106	850					insulin receptor signaling pathway (GO:0008286)	cytosol (GO:0005829)|membrane (GO:0016020)|nucleus (GO:0005634)	metal ion binding (GO:0046872)|poly(A) RNA binding (GO:0044822)										GCCAGGGGACGAGGAAATGGA	0.493																																						dbGAP											0													58.0	54.0	55.0					15																	42740787		2203	4299	6502	-	-	-	SO:0001583	missense	0			AF205632	CCDS32208.1, CCDS61602.1, CCDS61603.1	15q15.1	2012-11-27	2012-11-27		ENSG00000103994	ENSG00000103994		"""Zinc fingers, C2H2-type"""	12886	protein-coding gene	gene with protein product	"""SH3-domain binding protein 3"""		"""zinc finger protein 106 homolog (mouse)"""	ZFP106			Standard	XM_005254591		Approved	ZNF474, SH3BP3	uc001zpw.3	Q9H2Y7	OTTHUMG00000173244	ENST00000263805.4:c.2549C>G	15.37:g.42740787G>C	ENSP00000263805:p.Ser850Trp		B4DZ40|E9PE29|Q6NSD9|Q6PEK1|Q86T43|Q86T45|Q86T50|Q86T58|Q86TA9|Q96M37|Q9H7B8	Missense_Mutation	SNP	pfam_WD40_repeat,superfamily_WD40_repeat_dom,smart_Znf_C2H2-like,smart_WD40_repeat,pfscan_WD40_repeat,pfscan_WD40_repeat_dom	p.S850W	ENST00000263805.4	37	c.2549	CCDS32208.1	15	.	.	.	.	.	.	.	.	.	.	G	15.24	2.775072	0.49786	.	.	ENSG00000103994	ENST00000263805;ENST00000434903	T	0.36340	1.26	5.03	5.03	0.67393	.	0.335238	0.24815	N	0.035369	T	0.48857	0.1523	L	0.50333	1.59	0.29201	N	0.875189	D;D;D	0.69078	0.995;0.997;0.995	P;D;P	0.64410	0.764;0.925;0.764	T	0.47873	-0.9083	10	0.87932	D	0	-3.3079	9.298	0.37827	0.0958:0.0:0.9042:0.0	.	78;850;78	E9PE29;Q9H2Y7;B4DZ40	.;ZF106_HUMAN;.	W	850;78	ENSP00000263805:S850W	ENSP00000263805:S850W	S	-	2	0	ZFP106	40528079	1.000000	0.71417	0.990000	0.47175	0.516000	0.34256	4.748000	0.62148	2.595000	0.87683	0.655000	0.94253	TCG	ZFP106	-	NULL	ENSG00000103994		0.493	ZNF106-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ZFP106	HGNC	protein_coding	OTTHUMT00000422587.1	143	0.00	0	G	NM_022473		42740787	42740787	-1	no_errors	ENST00000263805	ensembl	human	known	69_37n	missense	58	27.50	22	SNP	0.472	C
ZNF91	7644	genome.wustl.edu	37	19	23542476	23542476	+	Missense_Mutation	SNP	C	C	G			TCGA-E2-A14X-01A-11D-A10Y-09	TCGA-E2-A14X-10A-01D-A110-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	74039acd-5aca-4c65-818c-3b577d295be0	764eea81-96aa-4302-a9e1-477e4cd25a5d	g.chr19:23542476C>G	ENST00000300619.7	-	4	3510	c.3305G>C	c.(3304-3306)gGa>gCa	p.G1102A	ZNF91_ENST00000397082.2_Missense_Mutation_p.G1070A|ZNF91_ENST00000596528.1_5'Flank|ZNF91_ENST00000599743.1_Intron	NM_003430.2	NP_003421.2	Q05481	ZNF91_HUMAN	zinc finger protein 91	1102					transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|sequence-specific DNA binding transcription factor activity (GO:0003700)|zinc ion binding (GO:0008270)						all_lung(12;0.0349)|Lung NSC(12;0.0538)|all_epithelial(12;0.0611)				GGGTTTCTCTCCGGTGTGCAA	0.398																																						dbGAP											0													69.0	75.0	73.0					19																	23542476		2141	4267	6408	-	-	-	SO:0001583	missense	0			M61871	CCDS42541.1, CCDS74322.1	19p12	2014-02-04	2006-05-12		ENSG00000167232	ENSG00000167232		"""Zinc fingers, C2H2-type"", ""-"""	13166	protein-coding gene	gene with protein product		603971	"""zinc finger protein 91 (HPF7, HTF10)"""			2023909, 2505992	Standard	XR_430154		Approved	HPF7, HTF10	uc002nre.3	Q05481	OTTHUMG00000183268	ENST00000300619.7:c.3305G>C	19.37:g.23542476C>G	ENSP00000300619:p.Gly1102Ala		A8K5E1|B7Z6G6	Missense_Mutation	SNP	pfam_Znf_C2H2,pfam_Krueppel-associated_box,superfamily_Krueppel-associated_box,smart_Krueppel-associated_box,smart_Znf_C2H2-like,pfscan_Znf_C2H2,pfscan_Krueppel-associated_box	p.G1102A	ENST00000300619.7	37	c.3305	CCDS42541.1	19	.	.	.	.	.	.	.	.	.	.	C	12.42	1.931800	0.34096	.	.	ENSG00000167232	ENST00000300619;ENST00000397082	T;T	0.01505	4.82;4.82	1.49	1.49	0.22878	Zinc finger, C2H2 (1);Zinc finger, C2H2-type/integrase, DNA-binding (1);	.	.	.	.	T	0.04407	0.0121	L	0.31664	0.95	0.28946	N	0.890671	D;D	0.76494	0.999;0.999	D;D	0.67103	0.949;0.943	T	0.38373	-0.9664	9	0.66056	D	0.02	.	9.936	0.41552	0.0:1.0:0.0:0.0	.	1070;1102	Q05481-2;Q05481	.;ZNF91_HUMAN	A	1102;1070	ENSP00000300619:G1102A;ENSP00000380272:G1070A	ENSP00000300619:G1102A	G	-	2	0	ZNF91	23334316	0.006000	0.16342	0.057000	0.19452	0.212000	0.24457	0.956000	0.29202	0.793000	0.33875	0.196000	0.17591	GGA	ZNF91	-	pfscan_Znf_C2H2	ENSG00000167232		0.398	ZNF91-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	ZNF91	HGNC	protein_coding	OTTHUMT00000465891.1	517	0.00	0	C	NM_003430		23542476	23542476	-1	no_errors	ENST00000300619	ensembl	human	known	69_37n	missense	127	32.80	62	SNP	1.000	G
