#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_CAF	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_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	i_amino_acid_change	i_annotation_transcript	i_build	i_c_position	i_ccds_id	i_chromosome_name	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_deletion_substructures	i_domain	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	i_gene_type	i_havana_transcript	i_normal_ref_reads	i_normal_ref_reads_val	i_normal_vaf	i_normal_vaf_val	i_normal_var_reads	i_normal_var_reads_val	i_reference	i_refseq_mrna_id	i_rsID	i_rsID_ref_var_alleles	i_secondary_variant_classification	i_stop	i_strand	i_transcript_error	i_transcript_name	i_transcript_source	i_transcript_species	i_transcript_status	i_transcript_version	i_trv_type	i_tumor_ref_reads	i_tumor_ref_reads_val	i_tumor_vaf	i_tumor_vaf_val	i_tumor_var_reads	i_tumor_var_reads_val	i_type	i_ucsc_cons	i_variant
MT-ND2	4536	genome.wustl.edu	37	M	2589	2589	+	5'Flank	SNP	A	A	G			TCGA-ZB-A964-01A-11D-A428-09	TCGA-ZB-A964-10A-01D-A42B-09	A	A	A	G	A	A	Unknown	Valid	Somatic	Phase_IV	WXS	Hybrid_Capture_Illumina_Seq			Illumina HiSeq	76de3c9d-321b-4da5-977e-bbea2933acc2	eacc8687-7c30-49e0-b753-1e2eb944163f	g.chrM:2589A>G	ENST00000361453.3	+	0	0				MT-TM_ENST00000387377.1_RNA|MT-TQ_ENST00000387372.1_RNA|MT-RNR1_ENST00000389680.2_RNA|MT-TI_ENST00000387365.1_RNA|MT-RNR2_ENST00000387347.2_RNA|MT-TW_ENST00000387382.1_RNA|MT-TF_ENST00000387314.1_RNA|MT-TV_ENST00000387342.1_RNA|MT-ND1_ENST00000361390.2_5'Flank|MT-TL1_ENST00000386347.1_RNA|MT-TA_ENST00000387392.1_RNA			P03891	NU2M_HUMAN	mitochondrially encoded NADH dehydrogenase 2						cellular metabolic process (GO:0044237)|mitochondrial electron transport, NADH to ubiquinone (GO:0006120)|reactive oxygen species metabolic process (GO:0072593)|respiratory electron transport chain (GO:0022904)|small molecule metabolic process (GO:0044281)	integral component of membrane (GO:0016021)|mitochondrial inner membrane (GO:0005743)|mitochondrial respiratory chain complex I (GO:0005747)	NADH dehydrogenase (ubiquinone) activity (GO:0008137)			breast(2)|lung(1)	3						CCCTAACCGTGCAaaggtagc	0.488																																							0											0																																										SO:0001631	upstream_gene_variant	0					mitochondria	2011-07-04	2005-02-15	2005-02-16	ENSG00000198763	ENSG00000198763	1.6.5.3	"""Mitochondrial respiratory chain complex / Complex I"""	7456	protein-coding gene	gene with protein product	"""complex I ND2 subunit"", ""NADH-ubiquinone oxidoreductase chain 2"""	516001	"""NADH dehydrogenase 2"""	MTND2			Standard			Approved	ND2, NAD2		P03891			M.37:g.2589A>G	Exception_encountered		Q34769|Q9TGI0|Q9TGI1|Q9TGI2|Q9TGI3|Q9TGI4	RNA	SNP	0	NULL	ENST00000361453.3	37	NULL		MT																																																																																			0	0		0.488	MT-ND2-201	KNOWN	basic|appris_principal	protein_coding	MT-RNR2	protein_coding		1392	2	0.07	0.00	1	0	A	YP_003024027	0	0		2589	1	no_errors	ENST00000387347	ensembl	human	known	74_37	rna	70	0	96.71	100.00	2353	2	SNP	NULL	G
SPEN	23013	genome.wustl.edu	37	1	16257221	16257221	+	Missense_Mutation	SNP	A	A	C			TCGA-ZB-A964-01A-11D-A428-09	TCGA-ZB-A964-10A-01D-A42B-09	A	A	A	C	A	A	Unknown	Valid	Somatic	Phase_IV	WXS	Hybrid_Capture_Illumina_Seq			Illumina HiSeq	76de3c9d-321b-4da5-977e-bbea2933acc2	eacc8687-7c30-49e0-b753-1e2eb944163f	g.chr1:16257221A>C	ENST00000375759.3	+	11	4690	c.4486A>C	c.(4486-4488)Aaa>Caa	p.K1496Q		NM_015001.2	NP_055816.2	Q96T58	MINT_HUMAN	spen family transcriptional repressor	1496					negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|negative regulation of transcription, DNA-templated (GO:0045892)|Notch signaling pathway (GO:0007219)|positive regulation of neurogenesis (GO:0050769)|positive regulation of transcription, DNA-templated (GO:0045893)|viral process (GO:0016032)	extracellular vesicular exosome (GO:0070062)|nucleus (GO:0005634)|transcriptional repressor complex (GO:0017053)	nucleotide binding (GO:0000166)|poly(A) RNA binding (GO:0044822)|RNA polymerase II transcription factor binding (GO:0001085)|RNA polymerase II transcription factor binding transcription factor activity involved in negative regulation of transcription (GO:0001191)|sequence-specific DNA binding transcription factor activity (GO:0003700)|single-stranded DNA binding (GO:0003697)|transcription corepressor activity (GO:0003714)			NS(1)|breast(13)|central_nervous_system(3)|cervix(5)|endometrium(16)|kidney(18)|large_intestine(27)|liver(2)|lung(37)|ovary(7)|prostate(7)|skin(7)|upper_aerodigestive_tract(5)|urinary_tract(1)	149		Colorectal(325;0.000258)|Breast(348;0.000278)|Lung NSC(340;0.000419)|Renal(390;0.000518)|all_lung(284;0.000567)|Ovarian(437;0.0129)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0185)|Colorectal(212;5.96e-07)|COAD - Colon adenocarcinoma(227;3.11e-05)|BRCA - Breast invasive adenocarcinoma(304;0.000115)|Kidney(64;0.000212)|KIRC - Kidney renal clear cell carcinoma(64;0.003)|STAD - Stomach adenocarcinoma(313;0.013)|READ - Rectum adenocarcinoma(331;0.0681)		CTGGTACATGAAAAAGAAGAA	0.388																																							0											0													60.0	65.0	63.0					1																	16257221		2203	4300	6503	SO:0001583	missense	0				CCDS164.1	1p36	2013-10-17	2013-10-17		ENSG00000065526	ENSG00000065526		"""RNA binding motif (RRM) containing"""	17575	protein-coding gene	gene with protein product		613484	"""SPEN homolog, transcriptional regulator (Drosophila)"", ""spen homolog, transcriptional regulator (Drosophila)"""			10451362, 11331609	Standard	NM_015001		Approved	KIAA0929, MINT, SHARP, RBM15C	uc001axk.1	Q96T58	OTTHUMG00000009376	ENST00000375759.3:c.4486A>C	1.37:g.16257221A>C	ENSP00000364912:p.Lys1496Gln		Q9H9A8|Q9NWH5|Q9UQ01|Q9Y556	Missense_Mutation	SNP	pfam_RRM_dom,pfam_SPOC_C,superfamily_SPOC_like_C_dom,smart_RRM_dom,pfscan_SPOC_met,pfscan_RRM_dom	p.K1496Q	ENST00000375759.3	37	c.4486	CCDS164.1	1	.	.	.	.	.	.	.	.	.	.	A	14.25	2.480712	0.44044	.	.	ENSG00000065526	ENST00000375759	T	0.17854	2.25	5.13	5.13	0.70059	.	.	.	.	.	T	0.30262	0.0759	L	0.32530	0.975	0.80722	D	1	D	0.89917	1.0	D	0.85130	0.997	T	0.01945	-1.1242	9	0.30854	T	0.27	-20.8799	15.107	0.72329	1.0:0.0:0.0:0.0	.	1496	Q96T58	MINT_HUMAN	Q	1496	ENSP00000364912:K1496Q	ENSP00000364912:K1496Q	K	+	1	0	SPEN	16129808	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	8.703000	0.91344	2.148000	0.66965	0.460000	0.39030	AAA	0	NULL		0.388	SPEN-001	KNOWN	basic|appris_principal|CCDS	protein_coding	SPEN	protein_coding	OTTHUMT00000025993.1	49	328	0	0.30	0	1	A	NM_015001	0	0		16257221	1	no_errors	ENST00000375759	ensembl	human	known	74_37	missense	43	238	12.24	5.18	6	13	SNP	1	C
BLZF1	8548	genome.wustl.edu	37	1	169349772	169349772	+	Missense_Mutation	SNP	G	G	A			TCGA-ZB-A964-01A-11D-A428-09	TCGA-ZB-A964-10A-01D-A42B-09	G	G	G	A	G	G	Unknown	Valid	Somatic	Phase_IV	WXS	Hybrid_Capture_Illumina_Seq			Illumina HiSeq	76de3c9d-321b-4da5-977e-bbea2933acc2	eacc8687-7c30-49e0-b753-1e2eb944163f	g.chr1:169349772G>A	ENST00000367808.3	+	5	1145	c.722G>A	c.(721-723)cGt>cAt	p.R241H	BLZF1_ENST00000329281.2_Missense_Mutation_p.R241H			Q9H2G9	GO45_HUMAN	basic leucine zipper nuclear factor 1	241					cell proliferation (GO:0008283)|Golgi organization (GO:0007030)|Golgi to plasma membrane protein transport (GO:0043001)|mitotic cell cycle (GO:0000278)|regulation of cell growth (GO:0001558)|regulation of transcription from RNA polymerase II promoter (GO:0006357)	cytoplasm (GO:0005737)|Golgi membrane (GO:0000139)|nucleus (GO:0005634)	DNA binding (GO:0003677)|enzyme binding (GO:0019899)|sequence-specific DNA binding transcription factor activity (GO:0003700)|ubiquitin protein ligase binding (GO:0031625)			endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(4)|lung(4)|prostate(1)|skin(1)	14	all_hematologic(923;0.208)					CGTCAAAACCGTGATGCACAC	0.388																																							0											0													133.0	111.0	119.0					1																	169349772		2203	4300	6503	SO:0001583	missense	0			U79751	CCDS1278.1	1q24	2008-08-01	2008-08-01		ENSG00000117475	ENSG00000117475			1065	protein-coding gene	gene with protein product		608692				9129147	Standard	NM_003666		Approved	JEM-1	uc001gfy.3	Q9H2G9	OTTHUMG00000035453	ENST00000367808.3:c.722G>A	1.37:g.169349772G>A	ENSP00000356782:p.Arg241His		O15298|Q5T531|Q5T533|Q9GZX4	Missense_Mutation	SNP	pfam_Hsk3_like	p.R241H	ENST00000367808.3	37	c.722	CCDS1278.1	1	.	.	.	.	.	.	.	.	.	.	G	23.5	4.420747	0.83559	.	.	ENSG00000117475	ENST00000367808;ENST00000329281;ENST00000426663	T;T;T	0.15834	2.39;2.39;2.39	5.52	5.52	0.82312	.	0.000000	0.85682	D	0.000000	T	0.31071	0.0785	M	0.63843	1.955	0.46981	D	0.999278	D;D	0.89917	1.0;1.0	D;D	0.63192	0.912;0.912	T	0.02150	-1.1205	9	0.59425	D	0.04	-15.2218	19.4369	0.94799	0.0:0.0:1.0:0.0	.	241;241	A8K6R0;Q9H2G9	.;GO45_HUMAN	H	241	ENSP00000356782:R241H;ENSP00000327541:R241H;ENSP00000404408:R241H	ENSP00000327541:R241H	R	+	2	0	BLZF1	167616396	1.000000	0.71417	0.992000	0.48379	0.967000	0.64934	7.366000	0.79548	2.583000	0.87209	0.637000	0.83480	CGT	0	NULL		0.388	BLZF1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	BLZF1	protein_coding	OTTHUMT00000086109.1	48	229	0	0.00	0	0	G	NM_003666	0	0		169349772	1	no_errors	ENST00000329281	ensembl	human	known	74_37	missense	30	104	55.88	41.90	38	75	SNP	1	A
DNAJC27	51277	genome.wustl.edu	37	2	25194751	25194751	+	Missense_Mutation	SNP	C	C	A			TCGA-ZB-A964-01A-11D-A428-09	TCGA-ZB-A964-10A-01D-A42B-09	C	C	C	A	C	C	Unknown	Valid	Somatic	Phase_IV	WXS	Hybrid_Capture_Illumina_Seq			Illumina HiSeq	76de3c9d-321b-4da5-977e-bbea2933acc2	eacc8687-7c30-49e0-b753-1e2eb944163f	g.chr2:25194751C>A	ENST00000264711.2	-	1	212	c.23G>T	c.(22-24)cGg>cTg	p.R8L	DNAJC27-AS1_ENST00000428614.1_RNA|DNAJC27-AS1_ENST00000421904.1_RNA|SNORD14_ENST00000365609.1_RNA|DNAJC27-AS1_ENST00000422449.1_RNA|DNAJC27-AS1_ENST00000434897.1_RNA|DNAJC27-AS1_ENST00000421842.1_RNA|DNAJC27_ENST00000468467.1_5'Flank|DNAJC27-AS1_ENST00000445389.1_RNA|DNAJC27_ENST00000534855.1_5'Flank|DNAJC27-AS1_ENST00000451291.1_RNA	NM_001198559.1|NM_016544.2	NP_001185488.1|NP_057628.1	Q9NZQ0	DJC27_HUMAN	DnaJ (Hsp40) homolog, subfamily C, member 27	8	Required for interaction with MAPK1. {ECO:0000250|UniProtKB:Q8CFP6}.				small GTPase mediated signal transduction (GO:0007264)	mitochondrion (GO:0005739)	GTP binding (GO:0005525)			breast(1)|endometrium(2)|large_intestine(4)|lung(4)|skin(1)|urinary_tract(1)	13						GGGCTCCTTCCGCTTCGGCAT	0.677																																							0											0													43.0	37.0	39.0					2																	25194751		2203	4300	6503	SO:0001583	missense	0				CCDS1716.1, CCDS74493.1	2p23.3	2011-09-02	2008-08-20	2008-08-20	ENSG00000115137	ENSG00000115137		"""Heat shock proteins / DNAJ (HSP40)"""	30290	protein-coding gene	gene with protein product		613527	"""rab and DnaJ domain containing"""	RBJ		14980719	Standard	NM_016544		Approved	RabJS	uc002rft.2	Q9NZQ0	OTTHUMG00000125524	ENST00000264711.2:c.23G>T	2.37:g.25194751C>A	ENSP00000264711:p.Arg8Leu		Q5JV88|Q86Y24	Missense_Mutation	SNP	pfam_Small_GTPase,pfam_MIRO-like,pfam_Small_GTPase_ARF/SAR,pfam_DnaJ_domain,pfam_EF_GTP-bd_dom,superfamily_P-loop_NTPase,superfamily_DnaJ_domain,smart_Small_GTPase_Ras,smart_Small_GTPase_Rab_type,smart_Small_GTPase_Rho,smart_Ran_GTPase,smart_DnaJ_domain,pfscan_DnaJ_domain,prints_Small_GTPase,prints_DnaJ_domain,tigrfam_Small_GTP-bd_dom	p.R8L	ENST00000264711.2	37	c.23	CCDS1716.1	2	.	.	.	.	.	.	.	.	.	.	C	35	5.494738	0.96339	.	.	ENSG00000115137	ENST00000264711	T	0.71103	-0.54	6.03	6.03	0.97812	.	0.000000	0.85682	D	0.000000	T	0.69433	0.3110	L	0.48642	1.525	0.80722	D	1	P;P	0.47191	0.891;0.555	B;B	0.43754	0.43;0.115	T	0.72855	-0.4166	10	0.72032	D	0.01	-13.9084	17.2761	0.87115	0.0:1.0:0.0:0.0	.	8;8	Q9NZQ0-3;Q9NZQ0	.;DJC27_HUMAN	L	8	ENSP00000264711:R8L	ENSP00000264711:R8L	R	-	2	0	DNAJC27	25048255	1.000000	0.71417	1.000000	0.80357	0.909000	0.53808	5.477000	0.66799	2.861000	0.98227	0.655000	0.94253	CGG	0	NULL		0.677	DNAJC27-001	KNOWN	basic|appris_principal|CCDS	protein_coding	DNAJC27	protein_coding	OTTHUMT00000246855.3	74	88	0	0.00	0	0	C	NM_016544	0	0		25194751	-1	no_errors	ENST00000264711	ensembl	human	known	74_37	missense	43	44	50.57	40.54	44	30	SNP	1	A
GPD2	2820	genome.wustl.edu	37	2	157436212	157436212	+	Missense_Mutation	SNP	T	T	G			TCGA-ZB-A964-01A-11D-A428-09	TCGA-ZB-A964-10A-01D-A42B-09	T	T	T	G	T	T	Unknown	Valid	Somatic	Phase_IV	WXS	Hybrid_Capture_Illumina_Seq			Illumina HiSeq	76de3c9d-321b-4da5-977e-bbea2933acc2	eacc8687-7c30-49e0-b753-1e2eb944163f	g.chr2:157436212T>G	ENST00000310454.6	+	16	2342	c.1970T>G	c.(1969-1971)gTc>gGc	p.V657G	GPD2_ENST00000409674.1_Missense_Mutation_p.V657G|GPD2_ENST00000540309.1_3'UTR|GPD2_ENST00000496190.1_3'UTR|GPD2_ENST00000409125.4_Missense_Mutation_p.V430G|GPD2_ENST00000438166.2_Missense_Mutation_p.V657G	NM_001083112.2	NP_001076581.2	P43304	GPDM_HUMAN	glycerol-3-phosphate dehydrogenase 2 (mitochondrial)	657	EF-hand 1. {ECO:0000255|PROSITE- ProRule:PRU00448}.				camera-type eye development (GO:0043010)|cellular lipid metabolic process (GO:0044255)|gluconeogenesis (GO:0006094)|glycerol catabolic process (GO:0019563)|glycerol-3-phosphate metabolic process (GO:0006072)|multicellular organism growth (GO:0035264)|small molecule metabolic process (GO:0044281)	glycerol-3-phosphate dehydrogenase complex (GO:0009331)|mitochondrial inner membrane (GO:0005743)	calcium ion binding (GO:0005509)|glycerol-3-phosphate dehydrogenase activity (GO:0004368)|sn-glycerol-3-phosphate:ubiquinone-8 oxidoreductase activity (GO:0052591)			central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(6)|lung(10)|ovary(1)|skin(1)|stomach(1)	22						AGTATCAATGTCCAAATGGAT	0.343																																							0											0													47.0	50.0	49.0					2																	157436212		2203	4299	6502	SO:0001583	missense	0				CCDS2202.1	2q24.1	2013-01-10			ENSG00000115159	ENSG00000115159	1.1.1.8	"""EF-hand domain containing"""	4456	protein-coding gene	gene with protein product		138430					Standard	NM_001083112		Approved		uc002tzd.4	P43304	OTTHUMG00000131951	ENST00000310454.6:c.1970T>G	2.37:g.157436212T>G	ENSP00000308610:p.Val657Gly		A8K4V0|B3KSA9|Q59FR1|Q9HAP9	Missense_Mutation	SNP	pfam_FAD-dep_OxRdtase,pfam_FAD_bind_dom,smart_EF_hand_dom,pfscan_EF_hand_dom,prints_G3P_DH_FAD-dep	p.V657G	ENST00000310454.6	37	c.1970	CCDS2202.1	2	.	.	.	.	.	.	.	.	.	.	T	11.70	1.716275	0.30413	.	.	ENSG00000115159	ENST00000310454;ENST00000409125;ENST00000438166;ENST00000409674	T;T;T;T	0.71222	-0.55;-0.55;-0.55;-0.55	5.96	5.96	0.96718	EF-hand-like domain (1);	0.211636	0.49916	D	0.000130	T	0.58495	0.2126	N	0.20986	0.625	0.80722	D	1	B	0.02656	0.0	B	0.08055	0.003	T	0.52990	-0.8501	10	0.25106	T	0.35	.	16.4221	0.83766	0.0:0.0:0.0:1.0	.	657	P43304	GPDM_HUMAN	G	657;430;657;657	ENSP00000308610:V657G;ENSP00000386484:V430G;ENSP00000409708:V657G;ENSP00000386425:V657G	ENSP00000308610:V657G	V	+	2	0	GPD2	157144458	0.979000	0.34478	0.771000	0.31576	0.920000	0.55202	6.139000	0.71728	2.283000	0.76528	0.477000	0.44152	GTC	0	pfscan_EF_hand_dom		0.343	GPD2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	GPD2	protein_coding	OTTHUMT00000254910.3	70	122	0	0.00	0	0	T		0	0		157436212	1	no_errors	ENST00000310454	ensembl	human	known	74_37	missense	59	93	9.23	7.00	6	7	SNP	0.835	G
VARS	7407	genome.wustl.edu	37	6	31760543	31760543	+	Missense_Mutation	SNP	G	G	A			TCGA-ZB-A964-01A-11D-A428-09	TCGA-ZB-A964-10A-01D-A42B-09	G	G	G	A	G	G	Unknown	Valid	Somatic	Phase_IV	WXS	Hybrid_Capture_Illumina_Seq			Illumina HiSeq	76de3c9d-321b-4da5-977e-bbea2933acc2	eacc8687-7c30-49e0-b753-1e2eb944163f	g.chr6:31760543G>A	ENST00000375663.3	-	4	1092	c.652C>T	c.(652-654)Cat>Tat	p.H218Y	VARS_ENST00000444930.2_5'UTR	NM_006295.2	NP_006286.1	P26640	SYVC_HUMAN	valyl-tRNA synthetase	218	GST C-terminal.				gene expression (GO:0010467)|tRNA aminoacylation for protein translation (GO:0006418)|valyl-tRNA aminoacylation (GO:0006438)	cytosol (GO:0005829)|mitochondrion (GO:0005739)	aminoacyl-tRNA editing activity (GO:0002161)|ATP binding (GO:0005524)|valine-tRNA ligase activity (GO:0004832)			central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(1)|lung(18)|ovary(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(2)	30					L-Valine(DB00161)	CCTGGCTGATGAGAGAGAGGC	0.532																																							0											0													64.0	66.0	65.0					6																	31760543		2203	4300	6503	SO:0001583	missense	0			BC012808	CCDS34412.1	6p21.3	2011-07-01		2005-07-05	ENSG00000204394	ENSG00000204394	6.1.1.9	"""Aminoacyl tRNA synthetases / Class I"""	12651	protein-coding gene	gene with protein product	"""valine tRNA ligase 1, cytoplasmic"""	192150	"""valyl-tRNA synthetase 2"""	VARS2		15779907	Standard	XM_005249362		Approved		uc003nxe.3	P26640	OTTHUMG00000031286	ENST00000375663.3:c.652C>T	6.37:g.31760543G>A	ENSP00000364815:p.His218Tyr		B0V1N1|B4DZ61|Q5JQ90|Q96E77|Q9UQM2	Missense_Mutation	SNP	pfam_aa-tRNA-synth_Ia,pfam_V/L/I-tRNA-synth_anticodon-bd,pfam_Glutathione_S-Trfase_N,pfam_Methionyl/Leucyl_tRNA_Synth,pfam_GST_C,superfamily_Val/Leu/Ile-tRNA-synth_edit,superfamily_tRNAsynth_1a_anticodon-bd,superfamily_Glutathione-S-Trfase_C-like,superfamily_tRNA-bd_arm,prints_Valyl-tRNA_ligase,tigrfam_Valyl-tRNA_ligase	p.H218Y	ENST00000375663.3	37	c.652	CCDS34412.1	6	.	.	.	.	.	.	.	.	.	.	G	15.05	2.719215	0.48728	.	.	ENSG00000204394	ENST00000375663	T	0.04083	3.71	5.35	5.35	0.76521	Glutathione S-transferase, C-terminal-like (1);Glutathione S-transferase/chloride channel, C-terminal (1);	0.374175	0.25109	N	0.033067	T	0.01489	0.0048	N	0.08118	0	0.80722	D	1	B	0.02656	0.0	B	0.01281	0.0	T	0.50398	-0.8833	10	0.62326	D	0.03	-23.2668	14.5741	0.68232	0.0:0.0:1.0:0.0	.	218	P26640	SYVC_HUMAN	Y	218	ENSP00000364815:H218Y	ENSP00000364815:H218Y	H	-	1	0	VARS	31868522	0.925000	0.31364	0.985000	0.45067	0.749000	0.42624	3.219000	0.51200	2.498000	0.84270	0.467000	0.42956	CAT	0	superfamily_Glutathione-S-Trfase_C-like		0.532	VARS-001	KNOWN	basic|appris_principal|CCDS	protein_coding	VARS	protein_coding	OTTHUMT00000076619.2	56	256	0	0.00	0	0	G	NM_006295	0	0		31760543	-1	no_errors	ENST00000375663	ensembl	human	known	74_37	missense	54	141	40.66	36.61	37	82	SNP	0.951	A
GTF2I	2969	genome.wustl.edu	37	7	74146970	74146970	+	Missense_Mutation	SNP	T	T	A			TCGA-ZB-A964-01A-11D-A428-09	TCGA-ZB-A964-10A-01D-A42B-09	T	T	T	A	T	T	Unknown	Valid	Somatic	Phase_IV	WXS	Hybrid_Capture_Illumina_Seq			Illumina HiSeq	76de3c9d-321b-4da5-977e-bbea2933acc2	eacc8687-7c30-49e0-b753-1e2eb944163f	g.chr7:74146970T>A	ENST00000324896.4	+	15	1660	c.1271T>A	c.(1270-1272)cTt>cAt	p.L424H	GTF2I_ENST00000346152.4_Missense_Mutation_p.L403H|GTF2I_ENST00000416070.1_Missense_Mutation_p.L383H|GTF2I_ENST00000353920.4_Missense_Mutation_p.L404H	NM_032999.2	NP_127492.1	P78347	GTF2I_HUMAN	general transcription factor IIi	424					negative regulation of angiogenesis (GO:0016525)|signal transduction (GO:0007165)|transcription from RNA polymerase II promoter (GO:0006366)|transcription initiation from RNA polymerase II promoter (GO:0006367)	cytoplasm (GO:0005737)|membrane (GO:0016020)|nucleus (GO:0005634)	DNA binding (GO:0003677)|sequence-specific DNA binding transcription factor activity (GO:0003700)			NS(1)|endometrium(7)|kidney(1)|large_intestine(1)|lung(5)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)	19						AGGATATTACTTGCAAAGGAA	0.378																																							0											0													13.0	13.0	13.0					7																	74146970		1741	3768	5509	SO:0001583	missense	0			U77948	CCDS5573.1, CCDS5574.1, CCDS5575.1, CCDS47614.1, CCDS64680.1	7q11.23	2011-05-25	2009-07-23			ENSG00000263001		"""General transcription factors"""	4659	protein-coding gene	gene with protein product		601679	"""general transcription factor II, i"""	WBSCR6		9334314, 9012831	Standard	NM_032999		Approved	TFII-I, BAP-135, SPIN, BTKAP1, DIWS, IB291	uc003uau.3	P78347		ENST00000324896.4:c.1271T>A	7.37:g.74146970T>A	ENSP00000322542:p.Leu424His		O14743|O15359|O43546|O43588|O43589|Q75M85|Q75M86|Q75M87|Q75M88|Q86U51|Q9BSZ4	Missense_Mutation	SNP	pfam_GTF2I,superfamily_GTF2I,pirsf_TF_II-I,pfscan_GTF2I	p.L424H	ENST00000324896.4	37	c.1271	CCDS5573.1	7	.	.	.	.	.	.	.	.	.	.	T	18.18	3.565904	0.65651	.	.	ENSG00000077809	ENST00000324896;ENST00000539339;ENST00000353920;ENST00000346152;ENST00000416070	T;T;T;T	0.29142	1.58;1.58;1.58;1.58	4.72	4.72	0.59763	.	0.110120	0.39544	N	0.001322	T	0.37019	0.0988	N	0.14661	0.345	0.80722	D	1	D;D;D;D;D	0.89917	1.0;1.0;0.998;1.0;0.999	D;D;P;D;D	0.74348	0.983;0.979;0.874;0.971;0.963	T	0.36089	-0.9762	10	0.56958	D	0.05	-16.5588	13.3771	0.60745	0.0:0.0:0.0:1.0	.	402;383;404;403;424	Q499G6;P78347-2;P78347-3;P78347-4;P78347	.;.;.;.;GTF2I_HUMAN	H	424;419;404;403;383	ENSP00000322542:L424H;ENSP00000322671:L404H;ENSP00000322599:L403H;ENSP00000387651:L383H	ENSP00000322542:L424H	L	+	2	0	GTF2I	73784906	1.000000	0.71417	1.000000	0.80357	0.942000	0.58702	5.342000	0.65970	1.753000	0.51906	0.477000	0.44152	CTT	0	pfam_GTF2I,superfamily_GTF2I,pirsf_TF_II-I,pfscan_GTF2I		0.378	GTF2I-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	GTF2I	protein_coding	OTTHUMT00000252708.1	351	148	0	0.67	0	1	T	NM_032999	0	0		74146970	1	no_errors	ENST00000324896	ensembl	human	known	74_37	missense	195	64	48.16	53.62	183	74	SNP	1	A
HRAS	3265	genome.wustl.edu	37	11	533552	533552	+	Missense_Mutation	SNP	C	C	G			TCGA-ZB-A964-01A-11D-A428-09	TCGA-ZB-A964-10A-01D-A42B-09	C	C	C	G	C	C	Unknown	Valid	Somatic	Phase_IV	WXS	Hybrid_Capture_Illumina_Seq			Illumina HiSeq	76de3c9d-321b-4da5-977e-bbea2933acc2	eacc8687-7c30-49e0-b753-1e2eb944163f	g.chr11:533552C>G	ENST00000451590.1	-	4	538	c.351G>C	c.(349-351)aaG>aaC	p.K117N	HRAS_ENST00000397594.1_Missense_Mutation_p.K117N|HRAS_ENST00000397596.2_Missense_Mutation_p.K117N|HRAS_ENST00000417302.1_Missense_Mutation_p.K117N|HRAS_ENST00000468682.2_5'Flank|HRAS_ENST00000311189.7_Missense_Mutation_p.K117N	NM_001130442.1|NM_005343.2	NP_001123914.1|NP_005334.1	P01112	RASH_HUMAN	Harvey rat sarcoma viral oncogene homolog	117			K -> R (in CSTLO). {ECO:0000269|PubMed:16443854}.		actin cytoskeleton organization (GO:0030036)|activation of MAPKK activity (GO:0000186)|axon guidance (GO:0007411)|blood coagulation (GO:0007596)|cell cycle arrest (GO:0007050)|cell proliferation (GO:0008283)|cell surface receptor signaling pathway (GO:0007166)|cellular senescence (GO:0090398)|chemotaxis (GO:0006935)|endocytosis (GO:0006897)|epidermal growth factor receptor signaling pathway (GO:0007173)|epithelial tube branching involved in lung morphogenesis (GO:0060441)|Fc-epsilon receptor signaling pathway (GO:0038095)|fibroblast growth factor receptor signaling pathway (GO:0008543)|GTP catabolic process (GO:0006184)|innate immune response (GO:0045087)|insulin receptor signaling pathway (GO:0008286)|intrinsic apoptotic signaling pathway (GO:0097193)|leukocyte migration (GO:0050900)|MAPK cascade (GO:0000165)|mitotic cell cycle checkpoint (GO:0007093)|negative regulation of cell differentiation (GO:0045596)|negative regulation of cell proliferation (GO:0008285)|negative regulation of gene expression (GO:0010629)|negative regulation of neuron apoptotic process (GO:0043524)|negative regulation of Rho GTPase activity (GO:0034259)|neurotrophin TRK receptor signaling pathway (GO:0048011)|organ morphogenesis (GO:0009887)|positive regulation of actin cytoskeleton reorganization (GO:2000251)|positive regulation of cell migration (GO:0030335)|positive regulation of cell proliferation (GO:0008284)|positive regulation of DNA replication (GO:0045740)|positive regulation of epithelial cell proliferation (GO:0050679)|positive regulation of ERK1 and ERK2 cascade (GO:0070374)|positive regulation of JNK cascade (GO:0046330)|positive regulation of MAP kinase activity (GO:0043406)|positive regulation of MAPK cascade (GO:0043410)|positive regulation of miRNA metabolic process (GO:2000630)|positive regulation of protein phosphorylation (GO:0001934)|positive regulation of Rac GTPase activity (GO:0032855)|positive regulation of Rac protein signal transduction (GO:0035022)|positive regulation of ruffle assembly (GO:1900029)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of wound healing (GO:0090303)|protein heterooligomerization (GO:0051291)|Ras protein signal transduction (GO:0007265)|regulation of long-term neuronal synaptic plasticity (GO:0048169)|regulation of synaptic transmission, GABAergic (GO:0032228)|signal transduction (GO:0007165)|small GTPase mediated signal transduction (GO:0007264)|social behavior (GO:0035176)|striated muscle cell differentiation (GO:0051146)|synaptic transmission (GO:0007268)|visual learning (GO:0008542)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|Golgi apparatus (GO:0005794)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	GTP binding (GO:0005525)|protein C-terminus binding (GO:0008022)	p.K117N(3)		adrenal_gland(1)|bone(3)|breast(7)|cervix(23)|endometrium(4)|haematopoietic_and_lymphoid_tissue(12)|kidney(1)|large_intestine(2)|liver(1)|lung(16)|oesophagus(2)|penis(2)|pituitary(10)|prostate(31)|salivary_gland(24)|skin(184)|soft_tissue(38)|stomach(14)|testis(5)|thymus(1)|thyroid(173)|upper_aerodigestive_tract(122)|urinary_tract(225)	901		all_cancers(49;4.37e-09)|all_epithelial(84;2.09e-06)|Breast(177;0.000162)|Ovarian(85;0.000953)|Medulloblastoma(188;0.0109)|all_neural(188;0.0299)|Lung NSC(207;0.0538)|all_lung(207;0.0713)		all cancers(45;7.63e-28)|Epithelial(43;7.29e-27)|OV - Ovarian serous cystadenocarcinoma(40;7.15e-21)|BRCA - Breast invasive adenocarcinoma(625;3.56e-05)|Lung(200;0.0375)|LUSC - Lung squamous cell carcinoma(625;0.0703)		CCAGGTCACACTTGTTCCCCA	0.632		6	Mis		"""infrequent sarcomas, rare other types"""	"""rhadomyosarcoma, ganglioneuroblastoma, bladder"""			Costello syndrome	HNSCC(11;0.0054)																													0	yes	Dom	yes	Costello syndrome	11	11p15.5	3265	v-Ha-ras Harvey rat sarcoma viral oncogene homolog		"""E, L, M"""	3	Substitution - Missense(3)	urinary_tract(2)|thyroid(1)											199.0	177.0	184.0					11																	533552		2203	4300	6503	SO:0001583	missense	0	Familial Cancer Database	incl.: Facio-Cutaneous-Skeletal syndrome	AJ437024	CCDS7698.1, CCDS7699.1	11p15.5	2014-09-17	2013-07-08		ENSG00000174775	ENSG00000174775			5173	protein-coding gene	gene with protein product		190020	"""v-Ha-ras Harvey rat sarcoma viral oncogene homolog"""	HRAS1			Standard	NM_176795		Approved		uc010qvx.2	P01112	OTTHUMG00000131919	ENST00000451590.1:c.351G>C	11.37:g.533552C>G	ENSP00000407586:p.Lys117Asn		B5BUA0|Q14080|Q6FHV9|Q9BR65|Q9UCE2	Missense_Mutation	SNP	pfam_Small_GTPase,pfam_MIRO-like,pfam_Small_GTPase_ARF/SAR,pfam_EF_GTP-bd_dom,pfam_Fe2_transport_prot_B_N,superfamily_P-loop_NTPase,smart_Small_GTPase_Ras,smart_Small_GTPase_Rab_type,smart_Small_GTPase_Rho,prints_Small_GTPase,tigrfam_Small_GTP-bd_dom	p.K117N	ENST00000451590.1	37	c.351	CCDS7698.1	11	.	.	.	.	.	.	.	.	.	.	C	17.61	3.431432	0.62844	.	.	ENSG00000174775	ENST00000397594;ENST00000397596;ENST00000451590;ENST00000417302;ENST00000311189	D;D;D;D;D	0.87887	-2.31;-2.31;-2.31;-2.31;-2.31	4.08	2.12	0.27331	Small GTP-binding protein domain (1);	0.000000	0.85682	D	0.000000	D	0.95233	0.8454	H	0.99951	5.03	0.80722	D	1	D;D	0.57257	0.979;0.966	P;P	0.57204	0.815;0.759	D	0.92778	0.6238	10	0.87932	D	0	.	6.1696	0.20410	0.0:0.5874:0.0:0.4125	.	117;117	P01112-2;P01112	.;RASH_HUMAN	N	117	ENSP00000380722:K117N;ENSP00000380723:K117N;ENSP00000407586:K117N;ENSP00000388246:K117N;ENSP00000309845:K117N	ENSP00000309845:K117N	K	-	3	2	HRAS	523552	0.940000	0.31905	1.000000	0.80357	0.996000	0.88848	0.073000	0.14640	0.831000	0.34780	0.561000	0.74099	AAG	0	pfam_Small_GTPase,pfam_MIRO-like,pfam_Small_GTPase_ARF/SAR,pfam_EF_GTP-bd_dom,pfam_Fe2_transport_prot_B_N,superfamily_P-loop_NTPase,smart_Small_GTPase_Ras,smart_Small_GTPase_Rab_type,smart_Small_GTPase_Rho,prints_Small_GTPase,tigrfam_Small_GTP-bd_dom		0.632	HRAS-202	KNOWN	basic|appris_principal|CCDS	protein_coding	HRAS	protein_coding	OTTHUMT00000259403.2	44	205	0	0.00	0	0	C	NM_176795	0	0		533552	-1	no_errors	ENST00000311189	ensembl	human	known	74_37	missense	15	67	55.88	40.87	19	47	SNP	0.999	G
NPAT	4863	genome.wustl.edu	37	11	108043017	108043017	+	Silent	SNP	A	A	T			TCGA-ZB-A964-01A-11D-A428-09	TCGA-ZB-A964-10A-01D-A42B-09	A	A	A	T	A	A	Unknown	Valid	Somatic	Phase_IV	WXS	Hybrid_Capture_Illumina_Seq			Illumina HiSeq	76de3c9d-321b-4da5-977e-bbea2933acc2	eacc8687-7c30-49e0-b753-1e2eb944163f	g.chr11:108043017A>T	ENST00000278612.8	-	13	2799	c.2694T>A	c.(2692-2694)acT>acA	p.T898T	NPAT_ENST00000610253.1_5'UTR	NM_002519.2	NP_002510.2	Q14207	NPAT_HUMAN	nuclear protein, ataxia-telangiectasia locus	898					positive regulation of transcription, DNA-templated (GO:0045893)|regulation of gene expression (GO:0010468)|regulation of transcription involved in G1/S transition of mitotic cell cycle (GO:0000083)|transcription, DNA-templated (GO:0006351)	Cajal body (GO:0015030)|cytoplasm (GO:0005737)|Gemini of coiled bodies (GO:0097504)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	protein C-terminus binding (GO:0008022)|protein N-terminus binding (GO:0047485)|sequence-specific DNA binding transcription factor activity (GO:0003700)|transcription coactivator activity (GO:0003713)|transcription corepressor activity (GO:0003714)			breast(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(6)|lung(21)|ovary(2)|prostate(2)|skin(5)	46		all_cancers(61;2.31e-10)|all_epithelial(67;1.11e-06)|Melanoma(852;2.55e-06)|Acute lymphoblastic leukemia(157;3.95e-05)|all_hematologic(158;0.00014)|Breast(348;0.0258)|all_neural(303;0.072)		BRCA - Breast invasive adenocarcinoma(274;1.05e-05)|Epithelial(105;3.01e-05)|all cancers(92;0.000816)|Colorectal(284;0.116)		GAGGTTGAGCAGTCATAGGTG	0.438																																							0											0													236.0	221.0	226.0					11																	108043017		1991	4162	6153	SO:0001819	synonymous_variant	0			X97186	CCDS41710.1	11q22-q23	2008-02-01			ENSG00000149308	ENSG00000149308			7896	protein-coding gene	gene with protein product		601448				9205109	Standard	NM_002519		Approved	E14	uc001pjz.4	Q14207	OTTHUMG00000166385	ENST00000278612.8:c.2694T>A	11.37:g.108043017A>T			A8K1V5|A8K6M2|Q13632|Q14967|Q16580|Q86W55|Q8IWE9	Silent	SNP	smart_LisH_dimerisation,pfscan_LisH_dimerisation	p.T898	ENST00000278612.8	37	c.2694	CCDS41710.1	11																																																																																			0	NULL		0.438	NPAT-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NPAT	protein_coding	OTTHUMT00000389506.2	51	244	0	0.41	0	1	A	NM_002519	0	0		108043017	-1	no_errors	ENST00000278612	ensembl	human	known	74_37	silent	38	111	40.62	45.10	26	92	SNP	0.007	T
PCSK7	9159	genome.wustl.edu	37	11	117089217	117089217	+	Missense_Mutation	SNP	G	G	A			TCGA-ZB-A964-01A-11D-A428-09	TCGA-ZB-A964-10A-01D-A42B-09	G	G	G	A	G	G	Unknown	Valid	Somatic	Phase_IV	WXS	Hybrid_Capture_Illumina_Seq			Illumina HiSeq	76de3c9d-321b-4da5-977e-bbea2933acc2	eacc8687-7c30-49e0-b753-1e2eb944163f	g.chr11:117089217G>A	ENST00000320934.3	-	12	2129	c.1499C>T	c.(1498-1500)cCg>cTg	p.P500L	PCSK7_ENST00000540028.1_Missense_Mutation_p.P141L	NM_004716.2	NP_004707.2	Q16549	PCSK7_HUMAN	proprotein convertase subtilisin/kexin type 7	500					peptide hormone processing (GO:0016486)|protein processing (GO:0016485)	integral component of Golgi membrane (GO:0030173)	peptidase activity (GO:0008233)|serine-type endopeptidase activity (GO:0004252)			NS(1)|endometrium(3)|large_intestine(2)|lung(8)|ovary(1)|skin(1)	16	all_hematologic(175;0.0487)	Breast(348;0.00908)|Medulloblastoma(222;0.0425)|all_hematologic(192;0.196)|all_neural(223;0.234)		BRCA - Breast invasive adenocarcinoma(274;1.72e-06)|Epithelial(105;6.71e-05)|all cancers(92;0.000537)		GGGGGACTGCGGAATCGCCTT	0.507			T	IGH@	MLCLS																																		0		Dom	yes		11	11q23.3	9159	proprotein convertase subtilisin/kexin type 7		L	0													131.0	124.0	126.0					11																	117089217		2201	4296	6497	SO:0001583	missense	0			U40623	CCDS8382.1	11q23-q24	2008-02-01			ENSG00000160613	ENSG00000160613			8748	protein-coding gene	gene with protein product		604872				8615762, 9820811	Standard	XM_006718938		Approved	PC7, PC8, LPC, SPC7	uc001pqr.3	Q16549	OTTHUMG00000165640	ENST00000320934.3:c.1499C>T	11.37:g.117089217G>A	ENSP00000325917:p.Pro500Leu		B0YJ60|Q3C1X1|Q53GM4|Q96FK8|Q9UL57	Missense_Mutation	SNP	pfam_Peptidase_S8/S53_dom,pfam_PrprotnconvertsP,superfamily_Peptidase_S8/S53_dom,superfamily_Galactose-bd-like,superfamily_Prot_inh_propept,prints_Peptidase_S8_subtilisin-rel	p.P500L	ENST00000320934.3	37	c.1499	CCDS8382.1	11	.	.	.	.	.	.	.	.	.	.	G	15.68	2.904364	0.52333	.	.	ENSG00000160613	ENST00000320934;ENST00000540028;ENST00000543900	T;T	0.61980	0.06;0.06	5.01	5.01	0.66863	Galactose-binding domain-like (1);	0.000000	0.85682	D	0.000000	T	0.67515	0.2901	M	0.83774	2.66	0.80722	D	1	B	0.14805	0.011	B	0.11329	0.006	T	0.68887	-0.5290	10	0.72032	D	0.01	-25.6227	17.0563	0.86534	0.0:0.0:1.0:0.0	.	500	Q16549	PCSK7_HUMAN	L	500;141;500	ENSP00000325917:P500L;ENSP00000441944:P141L	ENSP00000325917:P500L	P	-	2	0	PCSK7	116594427	1.000000	0.71417	0.605000	0.28930	0.581000	0.36288	3.206000	0.51098	2.606000	0.88127	0.655000	0.94253	CCG	0	superfamily_Galactose-bd-like		0.507	PCSK7-001	KNOWN	basic|appris_principal|CCDS	protein_coding	PCSK7	protein_coding	OTTHUMT00000385529.2	53	321	0	0.00	0	0	G	NM_004716	0	0		117089217	-1	no_errors	ENST00000320934	ensembl	human	known	74_37	missense	14	96	73.08	48.94	38	92	SNP	0.99	A
PUS1	80324	genome.wustl.edu	37	12	132426425	132426425	+	Missense_Mutation	SNP	T	T	C			TCGA-ZB-A964-01A-11D-A428-09	TCGA-ZB-A964-10A-01D-A42B-09	T	T	T	C	T	T	Unknown	Valid	Somatic	Phase_IV	WXS	Hybrid_Capture_Illumina_Seq			Illumina HiSeq	76de3c9d-321b-4da5-977e-bbea2933acc2	eacc8687-7c30-49e0-b753-1e2eb944163f	g.chr12:132426425T>C	ENST00000376649.3	+	5	1633	c.1133T>C	c.(1132-1134)aTc>aCc	p.I378T	PUS1_ENST00000542167.2_Missense_Mutation_p.I325T|PUS1_ENST00000440818.2_Missense_Mutation_p.I350T|PUS1_ENST00000535067.1_Intron|PUS1_ENST00000443358.2_Missense_Mutation_p.I350T	NM_025215.5	NP_079491.2	Q9Y606	TRUA_HUMAN	pseudouridylate synthase 1	378					positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|tRNA pseudouridine synthesis (GO:0031119)	mitochondrion (GO:0005739)|nuclear chromatin (GO:0000790)|nucleolus (GO:0005730)|transcription factor complex (GO:0005667)	ligand-dependent nuclear receptor transcription coactivator activity (GO:0030374)|poly(A) RNA binding (GO:0044822)|pseudouridine synthase activity (GO:0009982)|pseudouridylate synthase activity (GO:0004730)			breast(1)|central_nervous_system(1)|endometrium(2)|large_intestine(2)|lung(3)|ovary(1)|skin(1)	11	all_neural(191;0.0982)|Medulloblastoma(191;0.163)			OV - Ovarian serous cystadenocarcinoma(86;2.05e-08)|Epithelial(86;2.51e-07)|all cancers(50;2.94e-07)		CCCACCATCATCGGCACCGAG	0.647																																					Esophageal Squamous(102;671 2009 17384 45666)		0											0													85.0	59.0	68.0					12																	132426425		2203	4300	6503	SO:0001583	missense	0			AF116238	CCDS9275.2, CCDS31928.1	12q24	2004-05-17			ENSG00000177192	ENSG00000177192			15508	protein-coding gene	gene with protein product		608109				10094309	Standard	NM_001002019		Approved		uc001ujf.3	Q9Y606	OTTHUMG00000128507	ENST00000376649.3:c.1133T>C	12.37:g.132426425T>C	ENSP00000365837:p.Ile378Thr		A8K877|B3KQC1|Q8WYT2|Q9BU44	Missense_Mutation	SNP	pfam_PsdUridine_synth_TruA_a/b_dom,superfamily_PsdUridine_synth_cat_dom,tigrfam_PsdUridine_synth_TruA	p.I378T	ENST00000376649.3	37	c.1133	CCDS9275.2	12	.	.	.	.	.	.	.	.	.	.	T	5.155	0.214124	0.09810	.	.	ENSG00000177192	ENST00000443358;ENST00000376649;ENST00000322060;ENST00000440818;ENST00000542167	T;T;T;T;T	0.55930	0.51;0.5;0.52;0.51;0.49	5.17	4.01	0.46588	.	0.836491	0.11048	N	0.605305	T	0.48021	0.1477	L	0.49640	1.575	0.09310	N	0.999998	B;B	0.23058	0.079;0.026	B;B	0.23852	0.049;0.022	T	0.38824	-0.9643	10	0.42905	T	0.14	-37.034	11.0281	0.47757	0.0:0.0749:0.0:0.9251	.	325;378	F5H1S9;Q9Y606	.;TRUA_HUMAN	T	350;378;350;350;325	ENSP00000392451:I350T;ENSP00000365837:I378T;ENSP00000324726:I350T;ENSP00000400032:I350T;ENSP00000438948:I325T	ENSP00000324726:I350T	I	+	2	0	PUS1	130992378	0.999000	0.42202	0.214000	0.23707	0.109000	0.19521	4.096000	0.57734	1.947000	0.56498	0.402000	0.26972	ATC	0	NULL		0.647	PUS1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	PUS1	protein_coding	OTTHUMT00000250313.2	28	130	0	0.00	0	0	T	NM_025215	0	0		132426425	1	no_errors	ENST00000376649	ensembl	human	known	74_37	missense	16	58	30.43	36.26	7	33	SNP	0.093	C
JUND	3727	genome.wustl.edu	37	19	18392909	18392909	+	5'Flank	SNP	C	C	T			TCGA-ZB-A964-01A-11D-A428-09	TCGA-ZB-A964-10A-01D-A42B-09	C	C	C	T	C	C	Unknown	Valid	Somatic	Phase_IV	WXS	Hybrid_Capture_Illumina_Seq			Illumina HiSeq	76de3c9d-321b-4da5-977e-bbea2933acc2	eacc8687-7c30-49e0-b753-1e2eb944163f	g.chr19:18392909C>T	ENST00000252818.3	-	0	0				MIR3188_ENST00000583494.1_RNA	NM_005354.4	NP_005345.3	P17535	JUND_HUMAN	jun D proto-oncogene						aging (GO:0007568)|cellular response to calcium ion (GO:0071277)|circadian rhythm (GO:0007623)|osteoblast development (GO:0002076)|positive regulation of osteoblast differentiation (GO:0045669)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|regulation of transcription from RNA polymerase II promoter (GO:0006357)|response to light stimulus (GO:0009416)|response to lipopolysaccharide (GO:0032496)|response to mechanical stimulus (GO:0009612)|response to organic cyclic compound (GO:0014070)|response to peptide hormone (GO:0043434)|transcription from RNA polymerase II promoter (GO:0006366)	chromatin (GO:0000785)|nucleus (GO:0005634)|protein complex (GO:0043234)	double-stranded DNA binding (GO:0003690)|enzyme binding (GO:0019899)|sequence-specific DNA binding (GO:0043565)|sequence-specific DNA binding transcription factor activity (GO:0003700)|transcription regulatory region DNA binding (GO:0044212)			lung(2)|prostate(1)	3						TCTGCTGTGCCGCCAGGGCCT	0.741																																							0											0																																										SO:0001631	upstream_gene_variant	0				CCDS32959.1	19p13.2	2013-01-10				ENSG00000130522		"""basic leucine zipper proteins"""	6206	protein-coding gene	gene with protein product	"""transcription factor jun-D"", ""JunD-FL isoform"", ""activator protein 1"""	165162				2112242, 1903194	Standard	NM_005354		Approved	AP-1	uc002nip.2	P17535			19.37:g.18392909C>T	Exception_encountered		Q53EK9	RNA	SNP	0	NULL	ENST00000252818.3	37	NULL	CCDS32959.1	19																																																																																			0	0		0.741	JUND-001	KNOWN	basic|appris_principal|CCDS	protein_coding	MIR3188	protein_coding	OTTHUMT00000466318.2	36	56	0	0.00	0	0	C	NM_005354	0	0		18392909	1	no_errors	ENST00000583494	ensembl	human	known	74_37	rna	17	26	43.33	42.22	13	19	SNP	0	T
EXTL3	2137	genome.wustl.edu	37	8	28574610	28574611	+	Frame_Shift_Ins	INS	-	-	C			TCGA-ZB-A964-01A-11D-A428-09	TCGA-ZB-A964-10A-01D-A42B-09	-	-	-	C	-	-	Unknown	Valid	Somatic	Phase_IV	WXS	Hybrid_Capture_Illumina_Seq			Illumina HiSeq	76de3c9d-321b-4da5-977e-bbea2933acc2	eacc8687-7c30-49e0-b753-1e2eb944163f	g.chr8:28574610_28574611insC	ENST00000220562.4	+	3	1936_1937	c.1034_1035insC	c.(1033-1038)ttccagfs	p.Q346fs	EXTL3_ENST00000519886.1_Intron|EXTL3_ENST00000523149.1_Intron	NM_001440.2	NP_001431.1	O43909	EXTL3_HUMAN	exostosin-like glycosyltransferase 3	346					activation of signaling protein activity involved in unfolded protein response (GO:0006987)|cellular protein metabolic process (GO:0044267)|endoplasmic reticulum unfolded protein response (GO:0030968)|heparan sulfate proteoglycan biosynthetic process (GO:0015012)|positive regulation of cell growth (GO:0030307)	endoplasmic reticulum (GO:0005783)|endoplasmic reticulum membrane (GO:0005789)|integral component of membrane (GO:0016021)|intrinsic component of endoplasmic reticulum membrane (GO:0031227)	glucuronyl-galactosyl-proteoglycan 4-alpha-N-acetylglucosaminyltransferase activity (GO:0001888)|metal ion binding (GO:0046872)			biliary_tract(1)|endometrium(3)|kidney(2)|large_intestine(15)|lung(8)|ovary(1)|prostate(2)|skin(2)|soft_tissue(1)|urinary_tract(1)	36		Ovarian(32;0.069)		KIRC - Kidney renal clear cell carcinoma(542;0.107)|Kidney(114;0.129)|Colorectal(74;0.228)		CTCTTCACCTTCCAGGGCGAGA	0.564																																							0											0																																										SO:0001589	frameshift_variant	0			U76188	CCDS6070.1	8p22-p12	2013-03-01	2013-03-01		ENSG00000012232	ENSG00000012232	2.4.1.223	"""Exostosin glycosyltransferase family"""	3518	protein-coding gene	gene with protein product	"""REG receptor"", ""glucuronyl-galactosyl-proteoglycan 4-alpha-N-acetylglucosaminyltransferase"""	605744	"""exostoses (multiple)-like 3"""			9479495, 9450183, 11257457	Standard	NM_001440		Approved	botv, REGR	uc003xgz.2	O43909	OTTHUMG00000102146	ENST00000220562.4:c.1036dupC	8.37:g.28574612_28574612dupC	ENSP00000220562:p.Gln346fs		D3DST8|O00225|Q53XT3	Frame_Shift_Ins	INS	pfam_HexNAc_Trfase_a,pfam_Exostosin	p.Q346fs	ENST00000220562.4	37	c.1034_1035	CCDS6070.1	8																																																																																			0	pfam_Exostosin		0.564	EXTL3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	EXTL3	protein_coding	OTTHUMT00000219987.3	15	199	0	0.00	0	0	0	NM_001440	0	0		28574611	1	no_errors	ENST00000220562	ensembl	human	known	74_37	frame_shift_ins	17	118	22.73	28.48	5	47	INS	1.000:1.000	C
C17orf85	55421	genome.wustl.edu	37	17	3749489	3749489	+	Missense_Mutation	SNP	G	G	A			TCGA-ZB-A964-01A-11D-A428-09	TCGA-ZB-A964-10A-01D-A42B-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	76de3c9d-321b-4da5-977e-bbea2933acc2	eacc8687-7c30-49e0-b753-1e2eb944163f	g.chr17:3749489G>A	ENST00000389005.4	-	1	56	c.29C>T	c.(28-30)tCg>tTg	p.S10L	C17orf85_ENST00000158149.3_5'UTR	NM_001114118.2	NP_001107590.1	Q53F19	CQ085_HUMAN	chromosome 17 open reading frame 85	10							nucleotide binding (GO:0000166)|poly(A) RNA binding (GO:0044822)			endometrium(2)|large_intestine(2)|lung(4)|skin(1)|urinary_tract(1)	10				UCEC - Uterine corpus endometrioid carcinoma (3;0.0725)		CGCCTTCACCGACACCCGCAG	0.776																																							0											0													2.0	4.0	3.0					17																	3749489		569	1396	1965	SO:0001583	missense	0				CCDS45578.1	17p13.2	2012-10-23			ENSG00000074356	ENSG00000074356			24612	protein-coding gene	gene with protein product	"""ELG protein"""					11412301	Standard	NM_001114118		Approved	HSA277841, ELG	uc010ckl.2	Q53F19	OTTHUMG00000177672	ENST00000389005.4:c.29C>T	17.37:g.3749489G>A	ENSP00000373657:p.Ser10Leu		B3KWG7|Q7L406|Q96FK1|Q9NXZ4	Missense_Mutation	SNP	pfam_DUF2414	p.S10L	ENST00000389005.4	37	c.29	CCDS45578.1	17	.	.	.	.	.	.	.	.	.	.	G	33	5.210882	0.95069	.	.	ENSG00000074356	ENST00000389005	.	.	.	4.93	3.93	0.45458	.	0.147859	0.47455	D	0.000234	T	0.28333	0.0700	L	0.27053	0.805	0.80722	D	1	P	0.43352	0.804	B	0.24541	0.054	T	0.25882	-1.0119	9	0.87932	D	0	-5.7066	12.9258	0.58260	0.0:0.0:0.8361:0.1639	.	10	Q53F19	CQ085_HUMAN	L	10	.	ENSP00000373657:S10L	S	-	2	0	C17orf85	3696238	1.000000	0.71417	1.000000	0.80357	0.991000	0.79684	5.469000	0.66749	1.356000	0.45884	0.455000	0.32223	TCG	0	NULL		0.776	C17orf85-001	KNOWN	basic|appris_principal|CCDS	protein_coding	C17orf85	protein_coding	OTTHUMT00000438385.1	27	14	0	0.00	0	0	G	NM_018553	0	0		3749489	-1	no_errors	ENST00000389005	ensembl	human	known	74_37	missense	37	9	9.76	0.00	4	0	SNP	1	A
FAM230A	653203	genome.wustl.edu	37	22	20710684	20710684	+	Missense_Mutation	SNP	A	A	G			TCGA-ZB-A964-01A-11D-A428-09	TCGA-ZB-A964-10A-01D-A42B-09	A	A					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	76de3c9d-321b-4da5-977e-bbea2933acc2	eacc8687-7c30-49e0-b753-1e2eb944163f	g.chr22:20710684A>G	ENST00000434783.3	+	8	2600	c.2416A>G	c.(2416-2418)Aca>Gca	p.T806A	USP41_ENST00000454608.2_Intron|USP41_ENST00000486536.2_Intron					family with sequence similarity 230, member A																		GCCGCCCAGGACATCGCAAAG	0.687																																							0											0																																										SO:0001583	missense	0			JX456222		22q11.21	2014-08-13			ENSG00000188280	ENSG00000188280			45045	other	unknown							Standard	XM_006724099		Approved	DGCR15			OTTHUMG00000150686	ENST00000434783.3:c.2416A>G	22.37:g.20710684A>G	ENSP00000463576:p.Thr806Ala			Missense_Mutation	SNP	pfam_Ret-finger_pr-like_3_antisense,superfamily_Kinase-like_dom	p.T806A	ENST00000434783.3	37	c.2416		22																																																																																			0	NULL		0.687	FAM230A-001	KNOWN	not_best_in_genome_evidence|basic|appris_principal	protein_coding	FAM230A	protein_coding	OTTHUMT00000319609.4	80	7	1.23	0.00	1	0	A		0	0		20710684	1	no_errors	ENST00000434783	ensembl	human	known	74_37	missense	98	7	13.04	0.00	15	0	SNP	0	G
