#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
AKAP4	8852	genome.wustl.edu	37	X	49958929	49958929	+	Silent	SNP	G	G	A			TCGA-D8-A1JH-01A-11D-A188-09	TCGA-D8-A1JH-10A-01D-A13O-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	9f59481d-be89-4361-8cc3-3f1d46702016	68f2e564-b0dc-4e75-bc4d-9d849d9ac596	g.chrX:49958929G>A	ENST00000376056.2	-	5	558	c.408C>T	c.(406-408)ggC>ggT	p.G136G	AKAP4_ENST00000376064.3_Silent_p.G136G|AKAP4_ENST00000481402.1_5'UTR|AKAP4_ENST00000376058.2_Silent_p.G136G|AKAP4_ENST00000358526.2_Silent_p.G145G					A kinase (PRKA) anchor protein 4											NS(2)|breast(3)|central_nervous_system(2)|cervix(1)|endometrium(2)|kidney(6)|large_intestine(6)|lung(14)|ovary(1)|skin(4)	41	Ovarian(276;0.236)					TGTGATATTCGCCCTCTGTGT	0.448																																						dbGAP											0													146.0	111.0	123.0					X																	49958929		2203	4300	6503	-	-	-	SO:0001819	synonymous_variant	0			AF072756	CCDS14329.1, CCDS14330.1	Xp11.2	2009-03-12			ENSG00000147081	ENSG00000147081		"""A-kinase anchor proteins"""	374	protein-coding gene	gene with protein product	"""A-kinase anchor protein 82 kDa"", ""testis-specific gene HI"", ""protein kinase A anchoring protein 4"", ""cancer/testis antigen 99"""	300185				9822690, 9514854	Standard	NM_003886		Approved	p82, hAKAP82, AKAP82, Fsc1, HI, CT99	uc004dow.1	Q5JQC9	OTTHUMG00000021517	ENST00000376056.2:c.408C>T	X.37:g.49958929G>A				Silent	SNP	pfam_AKAP_110_C,pfam_RII_binding_1,smart_AKAP_110	p.G145	ENST00000376056.2	37	c.435	CCDS14330.1	X																																																																																			AKAP4	-	smart_AKAP_110	ENSG00000147081		0.448	AKAP4-201	KNOWN	basic|appris_principal|CCDS	protein_coding	AKAP4	HGNC	protein_coding	OTTHUMT00000056552.1	102	0.00	0	G	NM_003886		49958929	49958929	-1	no_errors	ENST00000358526	ensembl	human	known	69_37n	silent	119	25.47	41	SNP	0.000	A
ATF4	468	genome.wustl.edu	37	22	39917837	39917837	+	Silent	SNP	T	T	C			TCGA-D8-A1JH-01A-11D-A188-09	TCGA-D8-A1JH-10A-01D-A13O-09	T	T					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	9f59481d-be89-4361-8cc3-3f1d46702016	68f2e564-b0dc-4e75-bc4d-9d849d9ac596	g.chr22:39917837T>C	ENST00000337304.2	+	2	1168	c.286T>C	c.(286-288)Ttg>Ctg	p.L96L	ATF4_ENST00000404241.2_Silent_p.L96L|ATF4_ENST00000396680.1_Silent_p.L96L	NM_001675.2	NP_001666.2	P18848	ATF4_HUMAN	activating transcription factor 4	96					activation of signaling protein activity involved in unfolded protein response (GO:0006987)|cellular amino acid metabolic process (GO:0006520)|cellular protein metabolic process (GO:0044267)|circadian regulation of gene expression (GO:0032922)|endoplasmic reticulum unfolded protein response (GO:0030968)|gamma-aminobutyric acid signaling pathway (GO:0007214)|gluconeogenesis (GO:0006094)|intrinsic apoptotic signaling pathway in response to endoplasmic reticulum stress (GO:0070059)|negative regulation of oxidative stress-induced neuron death (GO:1903204)|negative regulation of potassium ion transport (GO:0043267)|positive regulation of apoptotic process (GO:0043065)|positive regulation of neuron apoptotic process (GO:0043525)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription from RNA polymerase II promoter in response to endoplasmic reticulum stress (GO:1990440)|positive regulation of transcription from RNA polymerase II promoter in response to oxidative stress (GO:0036091)|positive regulation of transcription, DNA-templated (GO:0045893)|regulation of transcription, DNA-templated (GO:0006355)|response to endoplasmic reticulum stress (GO:0034976)|transcription from RNA polymerase II promoter (GO:0006366)	cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|dendrite membrane (GO:0032590)|Lewy body core (GO:1990037)|neuron projection (GO:0043005)|nuclear periphery (GO:0034399)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|transcription factor complex (GO:0005667)	core promoter sequence-specific DNA binding (GO:0001046)|DNA binding (GO:0003677)|RNA polymerase II core promoter proximal region sequence-specific DNA binding (GO:0000978)|RNA polymerase II core promoter proximal region sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription (GO:0001077)|sequence-specific DNA binding RNA polymerase II transcription factor activity (GO:0000981)|sequence-specific DNA binding transcription factor activity (GO:0003700)|transcription regulatory region DNA binding (GO:0044212)			breast(1)|endometrium(2)|large_intestine(2)|lung(5)|skin(1)	11	Melanoma(58;0.04)				Pseudoephedrine(DB00852)	GGAGTTCGACTTGGATGCCCT	0.493																																						dbGAP											0													153.0	156.0	155.0					22																	39917837		2203	4300	6503	-	-	-	SO:0001819	synonymous_variant	0			D90209	CCDS13996.1	22q13.1	2013-05-23	2013-05-23		ENSG00000128272	ENSG00000128272		"""basic leucine zipper proteins"""	786	protein-coding gene	gene with protein product	"""tax-responsive enhancer element B67"""	604064	"""activating transcription factor 4 (tax-responsive enhancer element B67)"""	TXREB		1847461, 1534408	Standard	NM_182810		Approved	TAXREB67, CREB-2	uc003axz.3	P18848	OTTHUMG00000151099	ENST00000337304.2:c.286T>C	22.37:g.39917837T>C			Q9UH31	Silent	SNP	pfam_bZIP_1,pfam_bZIP_2,smart_bZIP,pfscan_bZIP	p.L96	ENST00000337304.2	37	c.286	CCDS13996.1	22																																																																																			ATF4	-	NULL	ENSG00000128272		0.493	ATF4-002	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	ATF4	HGNC	protein_coding	OTTHUMT00000321305.1	82	0.00	0	T	NM_001675		39917837	39917837	+1	no_errors	ENST00000337304	ensembl	human	known	69_37n	silent	83	26.55	30	SNP	0.995	C
CASP8	841	genome.wustl.edu	37	2	202123066	202123066	+	Intron	SNP	G	G	T	rs376887804		TCGA-D8-A1JH-01A-11D-A188-09	TCGA-D8-A1JH-10A-01D-A13O-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	9f59481d-be89-4361-8cc3-3f1d46702016	68f2e564-b0dc-4e75-bc4d-9d849d9ac596	g.chr2:202123066G>T	ENST00000432109.2	+	3	189				CASP8_ENST00000264274.9_Intron|CASP8_ENST00000392259.2_Intron|CASP8_ENST00000392266.3_Intron|CASP8_ENST00000392258.3_Intron|CASP8_ENST00000358485.4_Missense_Mutation_p.D38Y|CASP8_ENST00000323492.7_5'Flank|CASP8_ENST00000264275.5_Intron	NM_033355.3	NP_203519.1	Q14790	CASP8_HUMAN	caspase 8, apoptosis-related cysteine peptidase						activation of cysteine-type endopeptidase activity (GO:0097202)|activation of cysteine-type endopeptidase activity involved in apoptotic process (GO:0006919)|angiogenesis (GO:0001525)|apoptotic process (GO:0006915)|apoptotic signaling pathway (GO:0097190)|B cell activation (GO:0042113)|cellular component disassembly involved in execution phase of apoptosis (GO:0006921)|cellular response to mechanical stimulus (GO:0071260)|cellular response to organic cyclic compound (GO:0071407)|execution phase of apoptosis (GO:0097194)|extrinsic apoptotic signaling pathway (GO:0097191)|extrinsic apoptotic signaling pathway via death domain receptors (GO:0008625)|heart development (GO:0007507)|hepatocyte apoptotic process (GO:0097284)|innate immune response (GO:0045087)|intrinsic apoptotic signaling pathway (GO:0097193)|macrophage differentiation (GO:0030225)|MyD88-independent toll-like receptor signaling pathway (GO:0002756)|natural killer cell activation (GO:0030101)|negative regulation of I-kappaB kinase/NF-kappaB signaling (GO:0043124)|negative regulation of necroptotic process (GO:0060546)|neural tube formation (GO:0001841)|nucleotide-binding domain, leucine rich repeat containing receptor signaling pathway (GO:0035872)|nucleotide-binding oligomerization domain containing signaling pathway (GO:0070423)|positive regulation of extrinsic apoptotic signaling pathway (GO:2001238)|positive regulation of I-kappaB kinase/NF-kappaB signaling (GO:0043123)|positive regulation of macrophage differentiation (GO:0045651)|positive regulation of protein insertion into mitochondrial membrane involved in apoptotic signaling pathway (GO:1900740)|positive regulation of proteolysis (GO:0045862)|protein heterooligomerization (GO:0051291)|proteolysis (GO:0006508)|proteolysis involved in cellular protein catabolic process (GO:0051603)|regulation of extrinsic apoptotic signaling pathway in absence of ligand (GO:2001239)|regulation of thymocyte apoptotic process (GO:0070243)|response to antibiotic (GO:0046677)|response to cobalt ion (GO:0032025)|response to cold (GO:0009409)|response to estradiol (GO:0032355)|response to ethanol (GO:0045471)|response to lipopolysaccharide (GO:0032496)|response to tumor necrosis factor (GO:0034612)|syncytiotrophoblast cell differentiation involved in labyrinthine layer development (GO:0060715)|T cell activation (GO:0042110)|toll-like receptor 3 signaling pathway (GO:0034138)|toll-like receptor 4 signaling pathway (GO:0034142)|toll-like receptor signaling pathway (GO:0002224)|TRAIL-activated apoptotic signaling pathway (GO:0036462)|TRIF-dependent toll-like receptor signaling pathway (GO:0035666)|viral process (GO:0016032)	CD95 death-inducing signaling complex (GO:0031265)|cell body (GO:0044297)|cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|cytosol (GO:0005829)|death-inducing signaling complex (GO:0031264)|membrane raft (GO:0045121)|microtubule organizing center (GO:0005815)|mitochondrial outer membrane (GO:0005741)|mitochondrion (GO:0005739)|neuron projection (GO:0043005)|Noc1p-Noc2p complex (GO:0030690)|nucleus (GO:0005634)|ripoptosome (GO:0097342)	cysteine-type endopeptidase activity (GO:0004197)|cysteine-type endopeptidase activity involved in apoptotic process (GO:0097153)|cysteine-type endopeptidase activity involved in apoptotic signaling pathway (GO:0097199)|cysteine-type peptidase activity (GO:0008234)|death effector domain binding (GO:0035877)|peptidase activity (GO:0008233)|scaffold protein binding (GO:0097110)|ubiquitin protein ligase binding (GO:0031625)			breast(5)|cervix(2)|endometrium(6)|large_intestine(11)|lung(10)|ovary(3)|prostate(1)|skin(2)|upper_aerodigestive_tract(9)|urinary_tract(3)	52						CAGGTTAGGGGACTCGGAGAC	0.527										HNSCC(4;0.00038)																											Melanoma(82;831 1348 20716 36952 40159)	dbGAP											0													103.0	110.0	108.0					2																	202123066		1996	4157	6153	-	-	-	SO:0001627	intron_variant	0			U60520	CCDS2342.1, CCDS2343.1, CCDS2345.1, CCDS42798.1, CCDS42799.1	2q33-q34	2014-09-17	2005-08-17		ENSG00000064012	ENSG00000064012		"""Caspases"""	1509	protein-coding gene	gene with protein product		601763	"""caspase 8, apoptosis-related cysteine protease"""			8681376, 8681377	Standard	NM_033355		Approved	MCH5, MACH, FLICE, Casp-8	uc002uxt.1	Q14790	OTTHUMG00000132821	ENST00000432109.2:c.0-8144G>T	2.37:g.202123066G>T			O14676|Q14791|Q14792|Q14793|Q14794|Q14795|Q14796|Q15780|Q15806|Q53TT5|Q8TDI1|Q8TDI2|Q8TDI3|Q8TDI4|Q8TDI5|Q96T22|Q9C0K4|Q9UQ81	Missense_Mutation	SNP	pfam_DED,pfam_Pept_C14_cat,superfamily_DEATH-like,smart_DED,smart_Pept_C14_p45_core,pfscan_DED,pfscan_Pept_C14_p10,pfscan_Pept_C14_ICE_p20,prints_Pept_C14_p45_core	p.D38Y	ENST00000432109.2	37	c.112	CCDS2342.1	2	.	.	.	.	.	.	.	.	.	.	G	10.33	1.320703	0.23994	.	.	ENSG00000064012	ENST00000358485	T	0.02837	4.14	3.94	2.04	0.26737	.	33.288700	0.00424	N	0.000079	T	0.05135	0.0137	.	.	.	0.18873	N	0.999988	P	0.34826	0.471	B	0.40285	0.325	T	0.39057	-0.9632	9	0.87932	D	0	.	6.6758	0.23093	0.0:0.1989:0.5953:0.2057	.	38	Q14790-9	.	Y	38	ENSP00000351273:D38Y	ENSP00000351273:D38Y	D	+	1	0	CASP8	201831311	0.006000	0.16342	0.009000	0.14445	0.061000	0.15899	0.261000	0.18442	0.585000	0.29608	-0.181000	0.13052	GAC	CASP8	-	NULL	ENSG00000064012		0.527	CASP8-014	KNOWN	basic|appris_candidate|CCDS	protein_coding	CASP8	HGNC	protein_coding	OTTHUMT00000336853.2	88	0.00	0	G	NM_001228		202123066	202123066	+1	no_errors	ENST00000358485	ensembl	human	known	69_37n	missense	103	22.56	30	SNP	0.008	T
CCT6B	10693	genome.wustl.edu	37	17	33281599	33281599	+	Missense_Mutation	SNP	A	A	G			TCGA-D8-A1JH-01A-11D-A188-09	TCGA-D8-A1JH-10A-01D-A13O-09	A	A					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	9f59481d-be89-4361-8cc3-3f1d46702016	68f2e564-b0dc-4e75-bc4d-9d849d9ac596	g.chr17:33281599A>G	ENST00000314144.5	-	4	471	c.356T>C	c.(355-357)aTa>aCa	p.I119T	CCT6B_ENST00000436961.3_Missense_Mutation_p.I74T|CCT6B_ENST00000421975.3_Missense_Mutation_p.I119T	NM_006584.3	NP_006575.2	Q92526	TCPW_HUMAN	chaperonin containing TCP1, subunit 6B (zeta 2)	119					chaperone-mediated protein complex assembly (GO:0051131)|protein folding (GO:0006457)|protein transport (GO:0015031)|spermatogenesis (GO:0007283)	chaperonin-containing T-complex (GO:0005832)	ATP binding (GO:0005524)|protein transporter activity (GO:0008565)|unfolded protein binding (GO:0051082)			NS(1)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(3)|lung(7)|ovary(1)|pancreas(1)	20		Ovarian(249;0.17)				TCCTTCAGCTATTATTCTAGG	0.333																																						dbGAP											0													93.0	88.0	90.0					17																	33281599		2203	4300	6503	-	-	-	SO:0001583	missense	0			D78333	CCDS32617.1, CCDS54105.1, CCDS54106.1	17q	2011-09-02			ENSG00000132141	ENSG00000132141		"""Heat Shock Proteins / Chaperonins"""	1621	protein-coding gene	gene with protein product		610730				8812458, 9013858	Standard	NM_006584		Approved	Cctz2, TSA303	uc002hig.3	Q92526		ENST00000314144.5:c.356T>C	17.37:g.33281599A>G	ENSP00000327191:p.Ile119Thr		B4DX20|B4DYB0|Q8TC34	Missense_Mutation	SNP	pfam_Cpn60/TCP-1,superfamily_Cpn60/TCP-1,prints_Chaperone_TCP-1,prints_Chaprnin_Cpn60,tigrfam_Chap_CCT_zeta	p.I119T	ENST00000314144.5	37	c.356	CCDS32617.1	17	.	.	.	.	.	.	.	.	.	.	A	11.22	1.574285	0.28092	.	.	ENSG00000132141	ENST00000421975;ENST00000314144;ENST00000436961	D;D;D	0.85013	-1.93;-1.93;-1.93	5.02	5.02	0.67125	.	0.135279	0.64402	D	0.000002	D	0.93861	0.8036	H	0.98802	4.335	0.48696	D	0.999693	P;P;B	0.39071	0.658;0.576;0.196	P;P;B	0.49561	0.615;0.615;0.386	D	0.95353	0.8448	10	0.87932	D	0	-15.1697	12.9951	0.58642	1.0:0.0:0.0:0.0	.	74;119;119	B4DYB0;B4DX20;Q92526	.;.;TCPW_HUMAN	T	119;119;74	ENSP00000398044:I119T;ENSP00000327191:I119T;ENSP00000400917:I74T	ENSP00000327191:I119T	I	-	2	0	CCT6B	30305712	1.000000	0.71417	0.991000	0.47740	0.069000	0.16628	8.475000	0.90417	2.235000	0.73313	0.455000	0.32223	ATA	CCT6B	-	pfam_Cpn60/TCP-1,superfamily_Cpn60/TCP-1,tigrfam_Chap_CCT_zeta	ENSG00000132141		0.333	CCT6B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	CCT6B	HGNC	protein_coding	OTTHUMT00000448014.1	124	0.00	0	A	NM_006584		33281599	33281599	-1	no_errors	ENST00000314144	ensembl	human	known	69_37n	missense	96	25.95	34	SNP	1.000	G
CD99	4267	genome.wustl.edu	37	X	2641396	2641396	+	Missense_Mutation	SNP	G	G	A			TCGA-D8-A1JH-01A-11D-A188-09	TCGA-D8-A1JH-10A-01D-A13O-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	9f59481d-be89-4361-8cc3-3f1d46702016	68f2e564-b0dc-4e75-bc4d-9d849d9ac596	g.chrX:2641396G>A	ENST00000381192.3	+	7	534	c.352G>A	c.(352-354)Ggg>Agg	p.G118R	CD99_ENST00000381184.1_Missense_Mutation_p.G118R|CD99_ENST00000381187.3_Missense_Mutation_p.G102R|CD99_ENST00000482405.2_3'UTR	NM_001277710.1|NM_002414.3	NP_001264639.1|NP_002405.1	P14209	CD99_HUMAN	CD99 molecule	118					cell adhesion (GO:0007155)	cytoplasm (GO:0005737)|focal adhesion (GO:0005925)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)				breast(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(1)|lung(6)|skin(1)	11						CAGGAAAGAAGGGGAAGAGGG	0.532																																						dbGAP											0													479.0	433.0	448.0					X																	2641396		2203	4296	6499	-	-	-	SO:0001583	missense	0			M16279	CCDS14119.1, CCDS48071.1, CCDS75947.1	Xp22.32 and Yp11.3	2012-10-02	2006-03-28	2003-02-14	ENSG00000002586	ENSG00000002586		"""Pseudoautosomal regions / PAR1"", ""CD molecules"""	7082	protein-coding gene	gene with protein product		313470, 450000	"""antigen identified by monoclonal antibodies 12E7, F21 and O13"", ""CD99 antigen"""	MIC2			Standard	NM_001122898		Approved		uc004cqm.3	P14209	OTTHUMG00000021073	ENST00000381192.3:c.352G>A	X.37:g.2641396G>A	ENSP00000370588:p.Gly118Arg		A6NIW1|O00518|Q6ICV7	Missense_Mutation	SNP	pfam_CD99L2	p.G118R	ENST00000381192.3	37	c.352	CCDS14119.1	X	.	.	.	.	.	.	.	.	.	.	g	11.21	1.571969	0.28092	.	.	ENSG00000002586	ENST00000381192;ENST00000381187;ENST00000381184;ENST00000449611	T;T;T;T	0.21361	2.01;2.01;2.01;2.01	0.774	0.774	0.18521	.	1.392330	0.05949	U	0.638342	T	0.22820	0.0551	L	0.55481	1.735	0.09310	N	1	P;P;P	0.49090	0.919;0.919;0.919	B;B;B	0.42771	0.397;0.397;0.397	T	0.31251	-0.9950	9	0.54805	T	0.06	.	.	.	.	.	102;118;118	A6NIW1;B2R932;P14209	.;.;CD99_HUMAN	R	118;102;118;161	ENSP00000370588:G118R;ENSP00000370582:G102R;ENSP00000370579:G118R;ENSP00000405544:G161R	ENSP00000370579:G118R	G	+	1	0	CD99	2651396	0.001000	0.12720	0.001000	0.08648	0.023000	0.10783	1.094000	0.30951	0.656000	0.30886	0.292000	0.19580	GGG	CD99	-	pfam_CD99L2	ENSG00000002586		0.532	CD99-001	KNOWN	basic|appris_principal|CCDS	protein_coding	CD99	HGNC	protein_coding	OTTHUMT00000055624.1	276	0.00	0	G	NM_001122898		2641396	2641396	+1	no_errors	ENST00000381192	ensembl	human	known	69_37n	missense	394	23.05	118	SNP	0.001	A
CDC42EP1	11135	genome.wustl.edu	37	22	37964417	37964417	+	Missense_Mutation	SNP	G	G	A	rs200195385|rs62235033|rs66468174	byFrequency	TCGA-D8-A1JH-01A-11D-A188-09	TCGA-D8-A1JH-10A-01D-A13O-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	9f59481d-be89-4361-8cc3-3f1d46702016	68f2e564-b0dc-4e75-bc4d-9d849d9ac596	g.chr22:37964417G>A	ENST00000249014.4	+	3	1186	c.766G>A	c.(766-768)Gct>Act	p.A256T		NM_152243.2	NP_689449.1	Q00587	BORG5_HUMAN	CDC42 effector protein (Rho GTPase binding) 1	256	8 X 7 AA tandem repeats of [PT]-[AT]-A- [ENT]-[PT]-[PTS]-[AG].				positive regulation of pseudopodium assembly (GO:0031274)|regulation of cell shape (GO:0008360)|Rho protein signal transduction (GO:0007266)	actin cytoskeleton (GO:0015629)|cytoplasm (GO:0005737)|focal adhesion (GO:0005925)|Golgi apparatus (GO:0005794)|plasma membrane (GO:0005886)		p.N258_A264delNPSAPAA(3)		endometrium(2)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(2)|lung(4)|prostate(5)	15	Melanoma(58;0.0574)					CCCAGCGCCTGCTGCAAACCC	0.667																																						dbGAP											3	Deletion - In frame(3)	large_intestine(2)|haematopoietic_and_lymphoid_tissue(1)											12.0	11.0	11.0					22																	37964417		2167	3766	5933	-	-	-	SO:0001583	missense	0			M88338	CCDS13949.1	22q13.1	2008-06-11			ENSG00000128283	ENSG00000128283			17014	protein-coding gene	gene with protein product	"""55 kDa bone marrow stromal/endothelial cell protein"", ""serum constituent protein"""	606084				1629197, 10430899	Standard	NM_152243		Approved	MSE55, CEP1, Borg5	uc003asz.4	Q00587	OTTHUMG00000150591	ENST00000249014.4:c.766G>A	22.37:g.37964417G>A	ENSP00000249014:p.Ala256Thr		A8K825|Q96GN1	Missense_Mutation	SNP	pfam_PAK_box_Rho-bd,smart_PAK_box_Rho-bd,pfscan_PAK_box_Rho-bd	p.A256T	ENST00000249014.4	37	c.766	CCDS13949.1	22	.	.	.	.	.	.	.	.	.	.	G	0.856	-0.736888	0.03111	.	.	ENSG00000128283	ENST00000249014	T	0.29917	1.55	1.27	-0.0468	0.13846	.	0.748560	0.11892	N	0.519470	T	0.18718	0.0449	L	0.36672	1.1	0.09310	N	1	B	0.10296	0.003	B	0.01281	0.0	T	0.30650	-0.9971	10	0.17369	T	0.5	.	5.1819	0.15165	0.445:0.0:0.555:0.0	rs62235033	256	Q00587	BORG5_HUMAN	T	256	ENSP00000249014:A256T	ENSP00000249014:A256T	A	+	1	0	CDC42EP1	36294363	0.001000	0.12720	0.001000	0.08648	0.023000	0.10783	0.297000	0.19101	-0.000000	0.14550	0.205000	0.17691	GCT	CDC42EP1	-	NULL	ENSG00000128283		0.667	CDC42EP1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	CDC42EP1	HGNC	protein_coding	OTTHUMT00000318993.1	14	0.00	0	G	NM_152243		37964417	37964417	+1	no_errors	ENST00000249014	ensembl	human	known	69_37n	missense	14	30.00	6	SNP	0.013	A
CPT2	1376	genome.wustl.edu	37	1	53675969	53675969	+	Missense_Mutation	SNP	A	A	G			TCGA-D8-A1JH-01A-11D-A188-09	TCGA-D8-A1JH-10A-01D-A13O-09	A	A					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	9f59481d-be89-4361-8cc3-3f1d46702016	68f2e564-b0dc-4e75-bc4d-9d849d9ac596	g.chr1:53675969A>G	ENST00000371486.3	+	4	1138	c.623A>G	c.(622-624)aAt>aGt	p.N208S	RP5-1024G6.2_ENST00000452466.1_RNA	NM_000098.2	NP_000089.1	P23786	CPT2_HUMAN	carnitine palmitoyltransferase 2	208					carnitine shuttle (GO:0006853)|cellular lipid metabolic process (GO:0044255)|fatty acid beta-oxidation (GO:0006635)|small molecule metabolic process (GO:0044281)	mitochondrial inner membrane (GO:0005743)|mitochondrion (GO:0005739)|nucleolus (GO:0005730)|nucleus (GO:0005634)	carnitine O-palmitoyltransferase activity (GO:0004095)			breast(1)|central_nervous_system(1)|endometrium(2)|large_intestine(2)|lung(7)|skin(1)|upper_aerodigestive_tract(1)	15					L-Carnitine(DB00583)|Perhexiline(DB01074)	TACCTGGTCAATGCGTATCCC	0.488																																						dbGAP											0													111.0	105.0	107.0					1																	53675969		2203	4300	6503	-	-	-	SO:0001583	missense	0			BC002445	CCDS575.1	1p32.3	2014-01-09	2009-03-04		ENSG00000157184	ENSG00000157184	2.3.1.21		2330	protein-coding gene	gene with protein product		600650	"""carnitine palmitoyltransferase II"""	CPT1		1339389	Standard	NM_000098		Approved	CPTASE	uc001cvb.4	P23786	OTTHUMG00000008942	ENST00000371486.3:c.623A>G	1.37:g.53675969A>G	ENSP00000360541:p.Asn208Ser		B2R6S0|Q5SW68|Q9BQ26	Missense_Mutation	SNP	pfam_Carn_acyl_trans	p.N208S	ENST00000371486.3	37	c.623	CCDS575.1	1	.	.	.	.	.	.	.	.	.	.	A	14.40	2.523322	0.44866	.	.	ENSG00000157184	ENST00000371486	D	0.89681	-2.55	5.5	4.38	0.52667	.	0.040415	0.85682	N	0.000000	D	0.84924	0.5580	M	0.63428	1.95	0.80722	D	1	B	0.12630	0.006	B	0.15052	0.012	T	0.76916	-0.2782	10	0.16896	T	0.51	-7.0782	9.686	0.40098	0.9139:0.0:0.0861:0.0	.	208	P23786	CPT2_HUMAN	S	208	ENSP00000360541:N208S	ENSP00000360541:N208S	N	+	2	0	CPT2	53448557	1.000000	0.71417	0.993000	0.49108	0.978000	0.69477	5.045000	0.64220	0.928000	0.37168	0.528000	0.53228	AAT	CPT2	-	pfam_Carn_acyl_trans	ENSG00000157184		0.488	CPT2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	CPT2	HGNC	protein_coding	OTTHUMT00000024757.1	69	0.00	0	A	NM_000098		53675969	53675969	+1	no_errors	ENST00000371486	ensembl	human	known	69_37n	missense	66	21.43	18	SNP	1.000	G
DCAF6	55827	genome.wustl.edu	37	1	167935897	167935897	+	Missense_Mutation	SNP	G	G	A			TCGA-D8-A1JH-01A-11D-A188-09	TCGA-D8-A1JH-10A-01D-A13O-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	9f59481d-be89-4361-8cc3-3f1d46702016	68f2e564-b0dc-4e75-bc4d-9d849d9ac596	g.chr1:167935897G>A	ENST00000312263.6	+	3	394	c.190G>A	c.(190-192)Gaa>Aaa	p.E64K	DCAF6_ENST00000432587.2_Intron|DCAF6_ENST00000470919.1_3'UTR|DCAF6_ENST00000367840.3_Missense_Mutation_p.E64K|DCAF6_ENST00000367843.3_Missense_Mutation_p.E64K	NM_001017977.2	NP_001017977.1	Q58WW2	DCAF6_HUMAN	DDB1 and CUL4 associated factor 6	64					positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|protein ubiquitination (GO:0016567)	Cul4-RING E3 ubiquitin ligase complex (GO:0080008)|nucleus (GO:0005634)	ligand-dependent nuclear receptor transcription coactivator activity (GO:0030374)	p.E64*(1)		NS(1)|breast(1)|central_nervous_system(1)|endometrium(6)|kidney(3)|large_intestine(8)|lung(10)|ovary(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(2)	36						TGACACTGGAGAATATATTTT	0.299																																						dbGAP											1	Substitution - Nonsense(1)	large_intestine(1)											94.0	100.0	98.0					1																	167935897		2203	4296	6499	-	-	-	SO:0001583	missense	0			AL136738	CCDS1267.2, CCDS30933.1, CCDS55657.1, CCDS55658.1	1q23.3	2013-01-09	2009-07-17	2009-07-17	ENSG00000143164	ENSG00000143164		"""WD repeat domain containing"", ""DDB1 and CUL4 associated factors"""	30002	protein-coding gene	gene with protein product		610494	"""IQ motif and WD repeats 1"""	IQWD1		12032826	Standard	NM_018442		Approved	PC326	uc001gex.3	Q58WW2	OTTHUMG00000034572	ENST00000312263.6:c.190G>A	1.37:g.167935897G>A	ENSP00000311949:p.Glu64Lys		A2A295|B4DNB8|Q7L8I0|Q8IXH3|Q8TB19	Missense_Mutation	SNP	pfam_WD40_repeat,superfamily_WD40_repeat_dom,smart_WD40_repeat,pfscan_IQ_motif_EF-hand-BS,pfscan_WD40_repeat_dom	p.E64K	ENST00000312263.6	37	c.190	CCDS30933.1	1	.	.	.	.	.	.	.	.	.	.	G	34	5.305602	0.95601	.	.	ENSG00000143164	ENST00000367843;ENST00000312263;ENST00000367840	T;T;T	0.59224	0.28;0.28;0.28	5.4	5.4	0.78164	WD40/YVTN repeat-like-containing domain (1);WD40 repeat-like-containing domain (1);WD40-repeat-containing domain (1);	0.107089	0.64402	D	0.000007	T	0.54822	0.1882	N	0.20685	0.6	0.80722	D	1.000000	D;D;D	0.71674	0.998;0.995;0.993	D;D;D	0.78314	0.991;0.951;0.917	T	0.53158	-0.8478	9	0.27082	T	0.32	.	19.1812	0.93623	0.0:0.0:1.0:0.0	.	64;64;64	Q58WW2-3;Q58WW2;Q58WW2-2	.;DCAF6_HUMAN;.	K	64	ENSP00000356817:E64K;ENSP00000311949:E64K;ENSP00000356814:E64K	ENSP00000311949:E64K	E	+	1	0	DCAF6	166202521	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	8.740000	0.91579	2.550000	0.86006	0.544000	0.68410	GAA	DCAF6	-	pfam_WD40_repeat,superfamily_WD40_repeat_dom,smart_WD40_repeat,pfscan_WD40_repeat_dom	ENSG00000143164		0.299	DCAF6-003	KNOWN	basic|appris_candidate|CCDS	protein_coding	DCAF6	HGNC	protein_coding	OTTHUMT00000083661.2	121	0.00	0	G	NM_018442		167935897	167935897	+1	no_errors	ENST00000367840	ensembl	human	known	69_37n	missense	96	21.31	26	SNP	1.000	A
DGKB	1607	genome.wustl.edu	37	7	14880851	14880851	+	Missense_Mutation	SNP	G	G	A			TCGA-D8-A1JH-01A-11D-A188-09	TCGA-D8-A1JH-10A-01D-A13O-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	9f59481d-be89-4361-8cc3-3f1d46702016	68f2e564-b0dc-4e75-bc4d-9d849d9ac596	g.chr7:14880851G>A	ENST00000403951.2	-	2	457	c.38C>T	c.(37-39)tCg>tTg	p.S13L	DGKB_ENST00000399322.3_Missense_Mutation_p.S13L|DGKB_ENST00000407950.1_Missense_Mutation_p.S13L|DGKB_ENST00000406247.3_Missense_Mutation_p.S13L|DGKB_ENST00000444700.2_Missense_Mutation_p.S13L|DGKB_ENST00000402815.1_Missense_Mutation_p.S13L|DGKB_ENST00000258767.5_Missense_Mutation_p.S13L|DGKB_ENST00000403963.1_5'UTR			Q9Y6T7	DGKB_HUMAN	diacylglycerol kinase, beta 90kDa	13					blood coagulation (GO:0007596)|intracellular signal transduction (GO:0035556)|platelet activation (GO:0030168)|protein kinase C-activating G-protein coupled receptor signaling pathway (GO:0007205)	cytoplasm (GO:0005737)|plasma membrane (GO:0005886)	ATP binding (GO:0005524)|calcium ion binding (GO:0005509)|diacylglycerol kinase activity (GO:0004143)|NAD+ kinase activity (GO:0003951)			NS(1)|breast(4)|central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(11)|liver(1)|lung(34)|ovary(4)|prostate(4)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	72						GGAAAATTCCGAAGGGCTGAG	0.378																																						dbGAP											0													80.0	78.0	79.0					7																	14880851		1851	4092	5943	-	-	-	SO:0001583	missense	0			AB018261	CCDS47547.1, CCDS47548.1	7p21.2	2013-01-10	2002-08-29		ENSG00000136267	ENSG00000136267	2.7.1.107	"""EF-hand domain containing"""	2850	protein-coding gene	gene with protein product		604070	"""diacylglycerol kinase, beta (90kD)"""	DAGK2		7689223	Standard	NM_004080		Approved	KIAA0718, DGK, DGK-BETA	uc003ssz.3	Q9Y6T7	OTTHUMG00000152477	ENST00000403951.2:c.38C>T	7.37:g.14880851G>A	ENSP00000385780:p.Ser13Leu		A4D116|A4D117|A8MXU2|O75241|Q2M377|Q75MF9|Q75MU7|Q86UI5|Q86UM9|Q9UQ29	Missense_Mutation	SNP	pfam_Diacylglycerol_kin_accessory,pfam_Diacylglycerol_kinase_cat_dom,pfam_Prot_Kinase_C-like_PE/DAG-bd,smart_EF_hand_Ca-bd,smart_Prot_Kinase_C-like_PE/DAG-bd,smart_Diacylglycerol_kinase_cat_dom,smart_Diacylglycerol_kin_accessory,pfscan_EF_HAND_2,pfscan_Prot_Kinase_C-like_PE/DAG-bd	p.S13L	ENST00000403951.2	37	c.38	CCDS47547.1	7	.	.	.	.	.	.	.	.	.	.	G	14.79	2.640334	0.47153	.	.	ENSG00000136267	ENST00000403951;ENST00000399322;ENST00000258767;ENST00000402815;ENST00000407950;ENST00000444700;ENST00000406247;ENST00000437998	T;T;T;T;T;T;T;T	0.45668	0.89;0.89;0.89;0.89;0.89;0.89;0.89;0.89	5.43	5.43	0.79202	.	0.339653	0.24657	N	0.036664	T	0.28764	0.0713	N	0.11255	0.115	0.34129	D	0.664993	B;B;B;B	0.06786	0.001;0.001;0.001;0.0	B;B;B;B	0.08055	0.001;0.003;0.003;0.0	T	0.26538	-1.0100	10	0.44086	T	0.13	.	18.0669	0.89394	0.0:0.0:1.0:0.0	.	13;13;13;13	B7ZL83;C9JTC0;Q9Y6T7-2;Q9Y6T7	.;.;.;DGKB_HUMAN	L	13	ENSP00000385780:S13L;ENSP00000382260:S13L;ENSP00000258767:S13L;ENSP00000384909:S13L;ENSP00000385031:S13L;ENSP00000388451:S13L;ENSP00000386066:S13L;ENSP00000405569:S13L	ENSP00000258767:S13L	S	-	2	0	DGKB	14847376	1.000000	0.71417	1.000000	0.80357	0.816000	0.46133	4.613000	0.61176	2.570000	0.86706	0.465000	0.42564	TCG	DGKB	-	NULL	ENSG00000136267		0.378	DGKB-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	DGKB	HGNC	protein_coding	OTTHUMT00000326356.2	128	0.00	0	G	NM_004080		14880851	14880851	-1	no_errors	ENST00000258767	ensembl	human	known	69_37n	missense	111	27.45	42	SNP	1.000	A
ESPNP	284729	genome.wustl.edu	37	1	17033805	17033805	+	RNA	SNP	C	C	T	rs59259153|rs373187758	byFrequency	TCGA-D8-A1JH-01A-11D-A188-09	TCGA-D8-A1JH-10A-01D-A13O-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	9f59481d-be89-4361-8cc3-3f1d46702016	68f2e564-b0dc-4e75-bc4d-9d849d9ac596	g.chr1:17033805C>T	ENST00000492551.1	-	0	673					NR_026567.1				espin pseudogene																		CGTGCGCAGGCAGTGGGTGCA	0.647																																						dbGAP											0																																										-	-	-			0			AL035288		1p36.13	2013-05-22			ENSG00000268869	ENSG00000268869			23285	pseudogene	pseudogene						15286153	Standard	NR_026567		Approved		uc001azn.1		OTTHUMG00000000803		1.37:g.17033805C>T				RNA	SNP	-	NULL	ENST00000492551.1	37	NULL		1																																																																																			ESPNP	-	-	ENSG00000116219		0.647	ESPNP-002	KNOWN	basic	processed_transcript	ESPNP	HGNC	pseudogene	OTTHUMT00000326311.1	13	0.00	0	C			17033805	17033805	-1	no_errors	ENST00000492551	ensembl	human	known	69_37n	rna	28	26.32	10	SNP	1.000	T
IRGC	56269	genome.wustl.edu	37	19	44223848	44223848	+	Missense_Mutation	SNP	G	G	A	rs528054051		TCGA-D8-A1JH-01A-11D-A188-09	TCGA-D8-A1JH-10A-01D-A13O-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	9f59481d-be89-4361-8cc3-3f1d46702016	68f2e564-b0dc-4e75-bc4d-9d849d9ac596	g.chr19:44223848G>A	ENST00000244314.5	+	2	1337	c.1138G>A	c.(1138-1140)Gct>Act	p.A380T		NM_019612.3	NP_062558.1	Q6NXR0	IIGP5_HUMAN	immunity-related GTPase family, cinema	380						membrane (GO:0016020)	GTP binding (GO:0005525)|hydrolase activity, acting on acid anhydrides (GO:0016817)			central_nervous_system(1)|endometrium(1)|large_intestine(3)|lung(16)|ovary(1)|prostate(1)|skin(2)	25		Prostate(69;0.0435)				CAGCTTTGGCGCTGTCTACAC	0.662													G|||	1	0.000199681	0.0	0.0	5008	,	,		15480	0.001		0.0	False		,,,				2504	0.0				Colon(189;350 2037 11447 13433 38914)	dbGAP											0													33.0	29.0	30.0					19																	44223848		2203	4300	6503	-	-	-	SO:0001583	missense	0			BC066939	CCDS12629.1	19q13.32	2008-02-05	2005-10-31	2005-10-31	ENSG00000124449	ENSG00000124449			28835	protein-coding gene	gene with protein product			"""immunity-related GTPase family, cinema 1"""	IRGC1		12477932	Standard	NM_019612		Approved	Iigp5, CINEMA	uc002oxh.3	Q6NXR0	OTTHUMG00000154587	ENST00000244314.5:c.1138G>A	19.37:g.44223848G>A	ENSP00000244314:p.Ala380Thr		Q05BR8	Missense_Mutation	SNP	pfam_Interferon-induced_GTPase	p.A380T	ENST00000244314.5	37	c.1138	CCDS12629.1	19	.	.	.	.	.	.	.	.	.	.	G	0.095	-1.161717	0.01673	.	.	ENSG00000124449	ENST00000244314	T	0.23348	1.91	4.78	1.23	0.21249	.	0.581909	0.16246	N	0.222917	T	0.06735	0.0172	N	0.01656	-0.775	0.22719	N	0.998817	B	0.11235	0.004	B	0.04013	0.001	T	0.40079	-0.9582	10	0.02654	T	1	.	7.3064	0.26451	0.5216:0.0:0.4784:0.0	.	380	Q6NXR0	IIGP5_HUMAN	T	380	ENSP00000244314:A380T	ENSP00000244314:A380T	A	+	1	0	IRGC	48915688	0.030000	0.19436	0.994000	0.49952	0.421000	0.31385	0.588000	0.23924	0.147000	0.19030	-0.345000	0.07892	GCT	IRGC	-	NULL	ENSG00000124449		0.662	IRGC-001	KNOWN	basic|appris_principal|CCDS	protein_coding	IRGC	HGNC	protein_coding	OTTHUMT00000336191.1	15	0.00	0	G	NM_019612		44223848	44223848	+1	no_errors	ENST00000244314	ensembl	human	known	69_37n	missense	29	29.27	12	SNP	0.772	A
KDM6A	7403	genome.wustl.edu	37	X	44922686	44922687	+	Frame_Shift_Ins	INS	-	-	A			TCGA-D8-A1JH-01A-11D-A188-09	TCGA-D8-A1JH-10A-01D-A13O-09	-	-					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	9f59481d-be89-4361-8cc3-3f1d46702016	68f2e564-b0dc-4e75-bc4d-9d849d9ac596	g.chrX:44922686_44922687insA	ENST00000377967.4	+	16	1588_1589	c.1547_1548insA	c.(1546-1551)gcacagfs	p.Q517fs	KDM6A_ENST00000536777.1_Frame_Shift_Ins_p.Q472fs|KDM6A_ENST00000543216.1_Frame_Shift_Ins_p.Q438fs|KDM6A_ENST00000382899.4_Frame_Shift_Ins_p.Q524fs	NM_021140.2	NP_066963.2	O15550	KDM6A_HUMAN	lysine (K)-specific demethylase 6A	517	Interaction with SUPT6H. {ECO:0000250}.				canonical Wnt signaling pathway (GO:0060070)|heart morphogenesis (GO:0003007)|histone H3-K4 methylation (GO:0051568)|in utero embryonic development (GO:0001701)|mesodermal cell differentiation (GO:0048333)|multicellular organism growth (GO:0035264)|neural tube closure (GO:0001843)|notochord morphogenesis (GO:0048570)|regulation of gene expression (GO:0010468)|respiratory system process (GO:0003016)|somite rostral/caudal axis specification (GO:0032525)	histone methyltransferase complex (GO:0035097)|nucleus (GO:0005634)	dioxygenase activity (GO:0051213)|histone demethylase activity (H3-K27 specific) (GO:0071558)|metal ion binding (GO:0046872)|RNA polymerase II core promoter proximal region sequence-specific DNA binding (GO:0000978)	p.0?(6)|p.0(2)		NS(1)|breast(7)|central_nervous_system(27)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(24)|kidney(24)|large_intestine(9)|liver(1)|lung(21)|oesophagus(11)|pancreas(2)|prostate(5)|skin(1)|soft_tissue(1)|urinary_tract(29)	170						ACAGGAGTTGCACAGGTACGAT	0.45			"""D, N, F, S"""		"""renal, oesophageal SCC, MM"""																																Colon(129;1273 1667 15230 27352 52914)	dbGAP		Rec	yes		X	Xp11.2	7403	"""lysine (K)-specific demethylase 6A, UTX"""		"""E, L"""	8	Whole gene deletion(6)|No detectable mRNA/protein(2)	haematopoietic_and_lymphoid_tissue(2)|oesophagus(2)|breast(2)|pancreas(2)																																								-	-	-	SO:0001589	frameshift_variant	0			AF000992	CCDS14265.1	Xp11.2	2014-09-17	2009-04-17	2009-04-17	ENSG00000147050	ENSG00000147050		"""Chromatin-modifying enzymes / K-demethylases"", ""Tetratricopeptide (TTC) repeat domain containing"""	12637	protein-coding gene	gene with protein product		300128	"""ubiquitously transcribed tetratricopeptide repeat, X chromosome"""	UTX		9499428, 9381176	Standard	XM_005272655		Approved		uc004dge.4	O15550	OTTHUMG00000021402	ENST00000377967.4:c.1548dupA	X.37:g.44922687_44922687dupA	ENSP00000367203:p.Gln517fs		Q52LL9|Q5JVQ7	Frame_Shift_Ins	INS	pfam_JmjC_dom,pfam_TPR-1,smart_TPR_repeat,smart_JmjC_dom,pfscan_JmjC_dom,pfscan_TPR_repeat,pfscan_TPR-contain_dom	p.Q524fs	ENST00000377967.4	37	c.1568_1569	CCDS14265.1	X																																																																																			KDM6A	-	NULL	ENSG00000147050		0.450	KDM6A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	KDM6A	HGNC	protein_coding	OTTHUMT00000056324.1	25	0.00	0	-	NM_021140		44922686	44922687	+1	no_errors	ENST00000382899	ensembl	human	known	69_37n	frame_shift_ins	31	22.50	9	INS	1.000:1.000	A
MAP3K1	4214	genome.wustl.edu	37	5	56184105	56184105	+	Missense_Mutation	SNP	G	G	C			TCGA-D8-A1JH-01A-11D-A188-09	TCGA-D8-A1JH-10A-01D-A13O-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	9f59481d-be89-4361-8cc3-3f1d46702016	68f2e564-b0dc-4e75-bc4d-9d849d9ac596	g.chr5:56184105G>C	ENST00000399503.3	+	19	4310	c.4310G>C	c.(4309-4311)tGt>tCt	p.C1437S		NM_005921.1	NP_005912.1	Q13233	M3K1_HUMAN	mitogen-activated protein kinase kinase kinase 1, E3 ubiquitin protein ligase	1437	Protein kinase. {ECO:0000255|PROSITE- ProRule:PRU00159}.				activation of MAPKK activity (GO:0000186)|apoptotic mitochondrial changes (GO:0008637)|cellular response to mechanical stimulus (GO:0071260)|epithelial cell morphogenesis (GO:0003382)|eyelid development in camera-type eye (GO:0061029)|Fc-epsilon receptor signaling pathway (GO:0038095)|innate immune response (GO:0045087)|MyD88-dependent toll-like receptor signaling pathway (GO:0002755)|positive regulation of actin filament polymerization (GO:0030838)|protein phosphorylation (GO:0006468)|regulation of cell migration (GO:0030334)|toll-like receptor 10 signaling pathway (GO:0034166)|toll-like receptor 2 signaling pathway (GO:0034134)|toll-like receptor 4 signaling pathway (GO:0034142)|toll-like receptor 5 signaling pathway (GO:0034146)|toll-like receptor 9 signaling pathway (GO:0034162)|toll-like receptor signaling pathway (GO:0002224)|toll-like receptor TLR1:TLR2 signaling pathway (GO:0038123)|toll-like receptor TLR6:TLR2 signaling pathway (GO:0038124)|transforming growth factor beta receptor signaling pathway (GO:0007179)|wound healing (GO:0042060)	cytosol (GO:0005829)	ATP binding (GO:0005524)|JUN kinase kinase activity (GO:0008545)|MAP kinase kinase kinase activity (GO:0004709)|protein kinase activity (GO:0004672)|protein kinase binding (GO:0019901)|zinc ion binding (GO:0008270)			NS(1)|breast(19)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(8)|lung(11)|ovary(1)|skin(3)|urinary_tract(1)	57		Lung NSC(810;4.65e-05)|Prostate(74;0.0132)|Breast(144;0.0321)|Ovarian(174;0.223)		OV - Ovarian serous cystadenocarcinoma(10;6.08e-40)		AGTGTTGGCTGTGCTATTATA	0.343																																						dbGAP											0													153.0	147.0	149.0					5																	56184105		1892	4128	6020	-	-	-	SO:0001583	missense	0			U29671, AF042838	CCDS43318.1	5q11.2	2012-02-23	2012-02-23		ENSG00000095015	ENSG00000095015		"""Mitogen-activated protein kinase cascade / Kinase kinase kinases"""	6848	protein-coding gene	gene with protein product		600982	"""mitogen-activated protein kinase kinase kinase 1"""	MEKK1		8597633	Standard	NM_005921		Approved	MEKK, MAPKKK1	uc003jqw.4	Q13233	OTTHUMG00000059486	ENST00000399503.3:c.4310G>C	5.37:g.56184105G>C	ENSP00000382423:p.Cys1437Ser			Missense_Mutation	SNP	pfam_Prot_kinase_cat_dom,pfam_Ser-Thr/Tyr_kinase_cat_dom,superfamily_Kinase-like_dom,superfamily_ARM-type_fold,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pfscan_Znf_RING,pfscan_Znf_SWIM,pfscan_Prot_kinase_cat_dom	p.C1437S	ENST00000399503.3	37	c.4310	CCDS43318.1	5	.	.	.	.	.	.	.	.	.	.	G	25.7	4.669338	0.88348	.	.	ENSG00000095015	ENST00000399503	T	0.27104	1.69	5.78	5.78	0.91487	Serine/threonine-protein kinase-like domain (1);Serine/threonine-protein kinase, catalytic  domain (1);Protein kinase-like domain (1);Protein kinase, catalytic domain (1);	0.000000	0.85682	D	0.000000	T	0.62974	0.2472	M	0.91354	3.2	0.80722	D	1	D	0.89917	1.0	D	0.87578	0.998	T	0.70461	-0.4865	10	0.87932	D	0	.	20.0165	0.97478	0.0:0.0:1.0:0.0	.	1437	Q13233	M3K1_HUMAN	S	1437	ENSP00000382423:C1437S	ENSP00000382423:C1437S	C	+	2	0	MAP3K1	56219862	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	8.522000	0.90573	2.736000	0.93811	0.557000	0.71058	TGT	MAP3K1	-	pfam_Prot_kinase_cat_dom,pfam_Ser-Thr/Tyr_kinase_cat_dom,superfamily_Kinase-like_dom,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pfscan_Prot_kinase_cat_dom	ENSG00000095015		0.343	MAP3K1-001	NOVEL	basic|appris_principal|exp_conf|CCDS	protein_coding	MAP3K1	HGNC	protein_coding	OTTHUMT00000132309.2	135	0.00	0	G	XM_042066		56184105	56184105	+1	no_errors	ENST00000399503	ensembl	human	novel	69_37n	missense	180	17.81	39	SNP	1.000	C
MED23	9439	genome.wustl.edu	37	6	131925356	131925356	+	Missense_Mutation	SNP	T	T	C			TCGA-D8-A1JH-01A-11D-A188-09	TCGA-D8-A1JH-10A-01D-A13O-09	T	T					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	9f59481d-be89-4361-8cc3-3f1d46702016	68f2e564-b0dc-4e75-bc4d-9d849d9ac596	g.chr6:131925356T>C	ENST00000368068.3	-	15	1897	c.1718A>G	c.(1717-1719)tAt>tGt	p.Y573C	MED23_ENST00000540546.1_Missense_Mutation_p.Y579C|MED23_ENST00000368058.1_Missense_Mutation_p.Y579C|MED23_ENST00000368053.4_Missense_Mutation_p.Y579C|MED23_ENST00000354577.4_Missense_Mutation_p.Y579C|MED23_ENST00000403834.3_Missense_Mutation_p.Y579C|MED23_ENST00000368060.3_Missense_Mutation_p.Y573C|MED23_ENST00000545957.1_Missense_Mutation_p.Y214C|MED23_ENST00000539158.1_Intron	NM_004830.3	NP_004821.2	Q9ULK4	MED23_HUMAN	mediator complex subunit 23	573					gene expression (GO:0010467)|regulation of transcription from RNA polymerase II promoter (GO:0006357)|regulation of transcription, DNA-templated (GO:0006355)|transcription initiation from RNA polymerase II promoter (GO:0006367)	mediator complex (GO:0016592)|nucleoplasm (GO:0005654)|transcription factor complex (GO:0005667)	transcription coactivator activity (GO:0003713)			NS(1)|breast(3)|central_nervous_system(1)|endometrium(1)|kidney(4)|large_intestine(12)|lung(15)|ovary(1)|pancreas(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(2)	44	Breast(56;0.0753)			GBM - Glioblastoma multiforme(226;0.0115)|OV - Ovarian serous cystadenocarcinoma(155;0.0608)		TATTTCCATATAGACCAATAA	0.393																																						dbGAP											0													107.0	110.0	109.0					6																	131925356		2203	4300	6503	-	-	-	SO:0001583	missense	0			AF104255	CCDS5146.1, CCDS5147.1, CCDS59039.1	6q22.33-q24.1	2008-02-05	2007-08-08	2007-07-30	ENSG00000112282	ENSG00000112282			2372	protein-coding gene	gene with protein product		605042	"""cofactor required for Sp1 transcriptional activation, subunit 3, 130kDa"""	CRSP3		9989412	Standard	NM_004830		Approved	CRSP130, DRIP130, Sur2	uc003qcs.2	Q9ULK4	OTTHUMG00000015565	ENST00000368068.3:c.1718A>G	6.37:g.131925356T>C	ENSP00000357047:p.Tyr573Cys		B9TX55|O95403|Q5JWT3|Q5JWT4|Q6P9H6|Q9H0J2|Q9NTT9|Q9NTU0|Q9Y5P7|Q9Y667	Missense_Mutation	SNP	pfam_Mediator_Med23	p.Y579C	ENST00000368068.3	37	c.1736	CCDS5147.1	6	.	.	.	.	.	.	.	.	.	.	T	21.7	4.183940	0.78677	.	.	ENSG00000112282	ENST00000354577;ENST00000368068;ENST00000403834;ENST00000368060;ENST00000368058;ENST00000545957;ENST00000368053;ENST00000540546	T;T;T;T;T;T;T;T	0.81078	-1.45;-1.45;-1.45;-1.45;-1.45;-1.45;-1.45;-1.45	5.64	5.64	0.86602	.	0.000000	0.85682	D	0.000000	D	0.84243	0.5429	L	0.53249	1.67	0.80722	D	1	P;D;D;P	0.76494	0.919;0.999;0.965;0.956	P;D;P;P	0.79784	0.663;0.993;0.663;0.532	D	0.84560	0.0649	10	0.44086	T	0.13	-10.9428	15.8513	0.78934	0.0:0.0:0.0:1.0	.	214;579;573;579	B4E3G4;Q9ULK4-2;Q9ULK4;Q9ULK4-3	.;.;MED23_HUMAN;.	C	579;573;579;573;579;214;579;579	ENSP00000346588:Y579C;ENSP00000357047:Y573C;ENSP00000384536:Y579C;ENSP00000357039:Y573C;ENSP00000357037:Y579C;ENSP00000439977:Y214C;ENSP00000357032:Y579C;ENSP00000437818:Y579C	ENSP00000346588:Y579C	Y	-	2	0	MED23	131967049	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	8.040000	0.89188	2.152000	0.67230	0.533000	0.62120	TAT	MED23	-	pfam_Mediator_Med23	ENSG00000112282		0.393	MED23-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	MED23	HGNC	protein_coding	OTTHUMT00000042215.1	84	0.00	0	T			131925356	131925356	-1	no_errors	ENST00000368058	ensembl	human	known	69_37n	missense	78	22.00	22	SNP	1.000	C
PIK3CA	5290	genome.wustl.edu	37	3	178952085	178952085	+	Missense_Mutation	SNP	A	A	G	rs121913279		TCGA-D8-A1JH-01A-11D-A188-09	TCGA-D8-A1JH-10A-01D-A13O-09	A	A					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	9f59481d-be89-4361-8cc3-3f1d46702016	68f2e564-b0dc-4e75-bc4d-9d849d9ac596	g.chr3:178952085A>G	ENST00000263967.3	+	21	3297	c.3140A>G	c.(3139-3141)cAt>cGt	p.H1047R	RP11-245C23.3_ENST00000609807.1_RNA	NM_006218.2	NP_006209.2	P42336	PK3CA_HUMAN	phosphatidylinositol-4,5-bisphosphate 3-kinase, catalytic subunit alpha	1047	PI3K/PI4K. {ECO:0000255|PROSITE- ProRule:PRU00269}.		H -> L (in BC; unknown pathological significance). {ECO:0000269|PubMed:15289301, ECO:0000269|PubMed:15520168, ECO:0000269|PubMed:15994075, ECO:0000269|PubMed:16353168}.|H -> R (in CLOVE, KERSEB, CRC, BC and OC; also found in an endometrial carcinoma sample; shows an increase in lipid kinase activity; oncogenic in vivo; requires binding to p85 regulatory subunit to induce cellular transformation but not interaction with RAS; may mimic the conformatitonal change triggered by the interaction with RAS; enhances invadopodia-mediated extracellular matrix degradation and invasion in breast cancer cells; increases lipid kinase activity; may alter the interaction of the PI3K/ PI4K kinase domain with the cell membrane). {ECO:0000269|PubMed:15016963, ECO:0000269|PubMed:15289301, ECO:0000269|PubMed:15520168, ECO:0000269|PubMed:15712344, ECO:0000269|PubMed:15784156, ECO:0000269|PubMed:15994075, ECO:0000269|PubMed:16114017, ECO:0000269|PubMed:16322209, ECO:0000269|PubMed:16353168, ECO:0000269|PubMed:16533766, ECO:0000269|PubMed:17673550, ECO:0000269|PubMed:22658544}.|H -> Y (in MCAP; also found in an endometrial carcinoma sample). {ECO:0000269|PubMed:16322209, ECO:0000269|PubMed:22729224}.		angiogenesis (GO:0001525)|blood coagulation (GO:0007596)|cardiac muscle contraction (GO:0060048)|endothelial cell migration (GO:0043542)|epidermal growth factor receptor signaling pathway (GO:0007173)|Fc-epsilon receptor signaling pathway (GO:0038095)|Fc-gamma receptor signaling pathway involved in phagocytosis (GO:0038096)|fibroblast growth factor receptor signaling pathway (GO:0008543)|glucose metabolic process (GO:0006006)|hypomethylation of CpG island (GO:0044029)|innate immune response (GO:0045087)|insulin receptor signaling pathway (GO:0008286)|insulin receptor signaling pathway via phosphatidylinositol 3-kinase (GO:0038028)|leukocyte migration (GO:0050900)|negative regulation of anoikis (GO:2000811)|negative regulation of fibroblast apoptotic process (GO:2000270)|negative regulation of neuron apoptotic process (GO:0043524)|neurotrophin TRK receptor signaling pathway (GO:0048011)|phosphatidylinositol biosynthetic process (GO:0006661)|phosphatidylinositol phosphorylation (GO:0046854)|phosphatidylinositol-mediated signaling (GO:0048015)|phospholipid metabolic process (GO:0006644)|platelet activation (GO:0030168)|positive regulation of peptidyl-serine phosphorylation (GO:0033138)|protein kinase B signaling (GO:0043491)|regulation of genetic imprinting (GO:2000653)|regulation of multicellular organism growth (GO:0040014)|small molecule metabolic process (GO:0044281)|T cell costimulation (GO:0031295)|T cell receptor signaling pathway (GO:0050852)|vasculature development (GO:0001944)	1-phosphatidylinositol-4-phosphate 3-kinase, class IA complex (GO:0005943)|cytosol (GO:0005829)|lamellipodium (GO:0030027)|phosphatidylinositol 3-kinase complex (GO:0005942)|plasma membrane (GO:0005886)	1-phosphatidylinositol-3-kinase activity (GO:0016303)|1-phosphatidylinositol-4-phosphate 3-kinase activity (GO:0035005)|ATP binding (GO:0005524)|kinase activity (GO:0016301)|phosphatidylinositol 3-kinase activity (GO:0035004)|phosphatidylinositol-4,5-bisphosphate 3-kinase activity (GO:0046934)|protein kinase activator activity (GO:0030295)|protein serine/threonine kinase activity (GO:0004674)	p.H1047R(1387)|p.H1047L(194)|p.H1047P(1)		NS(16)|autonomic_ganglia(4)|biliary_tract(22)|bone(1)|breast(2150)|central_nervous_system(110)|cervix(33)|endometrium(473)|eye(1)|haematopoietic_and_lymphoid_tissue(35)|kidney(14)|large_intestine(1202)|liver(42)|lung(202)|meninges(1)|oesophagus(28)|ovary(235)|pancreas(17)|penis(8)|pituitary(12)|prostate(10)|skin(155)|small_intestine(1)|soft_tissue(18)|stomach(121)|thyroid(80)|upper_aerodigestive_tract(70)|urinary_tract(208)	5269	all_cancers(143;1.19e-17)|Ovarian(172;0.00769)|Breast(254;0.155)		OV - Ovarian serous cystadenocarcinoma(80;9.59e-28)|GBM - Glioblastoma multiforme(14;0.003)|BRCA - Breast invasive adenocarcinoma(182;0.0282)		Caffeine(DB00201)	AATGATGCACATCATGGTGGC	0.378	H1047L(EFM19_BREAST)|H1047R(BT20_BREAST)|H1047R(CAL29_URINARY_TRACT)|H1047R(CAL33_UPPER_AERODIGESTIVE_TRACT)|H1047R(DETROIT562_UPPER_AERODIGESTIVE_TRACT)|H1047R(HCC1954_BREAST)|H1047R(HCT116_LARGE_INTESTINE)|H1047R(HSC2_UPPER_AERODIGESTIVE_TRACT)|H1047R(LS180_LARGE_INTESTINE)|H1047R(MCAS_OVARY)|H1047R(MDAMB453_BREAST)|H1047R(NCIH1048_LUNG)|H1047R(RKO_LARGE_INTESTINE)|H1047R(SKOV3_OVARY)|H1047R(T47D_BREAST)	57	Mis		"""colorectal, gastric, gliobastoma, breast"""					HNSCC(19;0.045)|TSP Lung(28;0.18)																											Colon(199;1504 1750 3362 26421 31210 32040)	dbGAP		Dom	yes		3	3q26.3	5290	"""phosphoinositide-3-kinase, catalytic, alpha polypeptide"""		"""E, O"""	1582	Substitution - Missense(1582)	breast(961)|large_intestine(245)|endometrium(114)|ovary(77)|urinary_tract(36)|upper_aerodigestive_tract(26)|lung(19)|central_nervous_system(19)|stomach(19)|haematopoietic_and_lymphoid_tissue(11)|thyroid(10)|NS(9)|liver(7)|kidney(6)|soft_tissue(6)|skin(4)|prostate(4)|pituitary(3)|pancreas(3)|meninges(1)|cervix(1)|bone(1)											99.0	89.0	92.0					3																	178952085		1912	4130	6042	-	-	-	SO:0001583	missense	0				CCDS43171.1	3q26.3	2014-09-17	2012-07-13		ENSG00000121879	ENSG00000121879	2.7.1.153		8975	protein-coding gene	gene with protein product		171834	"""phosphoinositide-3-kinase, catalytic, alpha polypeptide"""			1322797	Standard	NM_006218		Approved	PI3K	uc003fjk.3	P42336	OTTHUMG00000157311	ENST00000263967.3:c.3140A>G	3.37:g.178952085A>G	ENSP00000263967:p.His1047Arg		Q14CW1|Q99762	Missense_Mutation	SNP	pfam_PInositide-3_kin_accessory_dom,pfam_PI3/4_kinase_cat_dom,pfam_PI3K_Ras-bd_dom,pfam_PI3K_C2_dom,pfam_PI3K_adapt-bd_dom,superfamily_Kinase-like_dom,superfamily_ARM-type_fold,superfamily_C2_Ca/lipid-bd_dom_CaLB,smart_PI3K_adapt-bd_dom,smart_PI3K_Ras-bd_dom,smart_PI3K_C2_dom,smart_PInositide-3_kin_accessory_dom,smart_PI3/4_kinase_cat_dom,pfscan_PI3/4_kinase_cat_dom	p.H1047R	ENST00000263967.3	37	c.3140	CCDS43171.1	3	.	.	.	.	.	.	.	.	.	.	A	14.34	2.506328	0.44558	.	.	ENSG00000121879	ENST00000263967	T	0.80214	-1.35	6.08	6.08	0.98989	Protein kinase-like domain (1);Phosphatidylinositol 3-/4-kinase, catalytic (3);	0.000000	0.85682	D	0.000000	T	0.62466	0.2430	N	0.08118	0	0.80722	D	1	P	0.38597	0.639	B	0.28011	0.085	T	0.67526	-0.5648	10	0.40728	T	0.16	-21.2893	16.6512	0.85203	1.0:0.0:0.0:0.0	.	1047	P42336	PK3CA_HUMAN	R	1047	ENSP00000263967:H1047R	ENSP00000263967:H1047R	H	+	2	0	PIK3CA	180434779	1.000000	0.71417	0.996000	0.52242	0.998000	0.95712	8.859000	0.92264	2.333000	0.79357	0.482000	0.46254	CAT	PIK3CA	-	superfamily_Kinase-like_dom,smart_PI3/4_kinase_cat_dom,pfscan_PI3/4_kinase_cat_dom	ENSG00000121879		0.378	PIK3CA-001	KNOWN	basic|appris_principal|exp_conf|CCDS	protein_coding	PIK3CA	HGNC	protein_coding	OTTHUMT00000348409.2	48	0.00	0	A			178952085	178952085	+1	no_errors	ENST00000263967	ensembl	human	known	69_37n	missense	49	29.58	21	SNP	1.000	G
RASD2	23551	genome.wustl.edu	37	22	35943099	35943099	+	Silent	SNP	C	C	T			TCGA-D8-A1JH-01A-11D-A188-09	TCGA-D8-A1JH-10A-01D-A13O-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	9f59481d-be89-4361-8cc3-3f1d46702016	68f2e564-b0dc-4e75-bc4d-9d849d9ac596	g.chr22:35943099C>T	ENST00000216127.4	+	2	885	c.243C>T	c.(241-243)ccC>ccT	p.P81P		NM_014310.3	NP_055125.2	Q96D21	RHES_HUMAN	RASD family, member 2	81					locomotory behavior (GO:0007626)|negative regulation of protein ubiquitination (GO:0031397)|positive regulation of protein kinase B signaling (GO:0051897)|positive regulation of protein sumoylation (GO:0033235)|regulation of cAMP-mediated signaling (GO:0043949)|small GTPase mediated signal transduction (GO:0007264)|synaptic transmission, dopaminergic (GO:0001963)	plasma membrane (GO:0005886)	G-protein beta-subunit binding (GO:0031681)|GTP binding (GO:0005525)|GTPase activity (GO:0003924)	p.P81P(1)		endometrium(2)|large_intestine(1)|lung(8)|prostate(1)|skin(1)	13						ACCCCTTCCCCGCCATGCGCA	0.642																																						dbGAP											1	Substitution - coding silent(1)	endometrium(1)											92.0	74.0	80.0					22																	35943099		2203	4300	6503	-	-	-	SO:0001819	synonymous_variant	0			AF279143	CCDS13916.1	22q13.1	2014-05-09			ENSG00000100302	ENSG00000100302			18229	protein-coding gene	gene with protein product	"""tumor endothelial marker 2"", ""Ras homolog enriched in striatum"""	612842				10947988, 10467249, 14724584	Standard	NM_014310		Approved	TEM2, Rhes, MGC:4834	uc003anx.3	Q96D21	OTTHUMG00000150607	ENST00000216127.4:c.243C>T	22.37:g.35943099C>T			O95520|Q5THY8	Silent	SNP	pfam_Small_GTPase,pfam_MIRO-like,pfam_Small_GTPase_ARF/SAR,pfam_ProtSyn_GTP-bd,smart_Small_GTPase_Ras,smart_Small_GTPase_Rab_type,smart_Small_GTPase_Rho,smart_Ran_GTPase,prints_Small_GTPase,tigrfam_Small_GTP-bd_dom	p.P81	ENST00000216127.4	37	c.243	CCDS13916.1	22																																																																																			RASD2	-	pfam_Small_GTPase,pfam_MIRO-like,pfam_Small_GTPase_ARF/SAR,pfam_ProtSyn_GTP-bd,smart_Small_GTPase_Ras,smart_Small_GTPase_Rab_type,smart_Small_GTPase_Rho,smart_Ran_GTPase,prints_Small_GTPase,tigrfam_Small_GTP-bd_dom	ENSG00000100302		0.642	RASD2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	RASD2	HGNC	protein_coding	OTTHUMT00000319063.1	26	0.00	0	C	NM_014310		35943099	35943099	+1	no_errors	ENST00000216127	ensembl	human	known	69_37n	silent	41	19.61	10	SNP	0.032	T
RBM39	9584	genome.wustl.edu	37	20	34313042	34313042	+	Missense_Mutation	SNP	T	T	A			TCGA-D8-A1JH-01A-11D-A188-09	TCGA-D8-A1JH-10A-01D-A13O-09	T	T					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	9f59481d-be89-4361-8cc3-3f1d46702016	68f2e564-b0dc-4e75-bc4d-9d849d9ac596	g.chr20:34313042T>A	ENST00000253363.6	-	7	475	c.452A>T	c.(451-453)gAt>gTt	p.D151V	RBM39_ENST00000407261.4_5'UTR|RBM39_ENST00000361162.6_Missense_Mutation_p.D151V|RBM39_ENST00000528062.3_Missense_Mutation_p.D129V			Q14498	RBM39_HUMAN	RNA binding motif protein 39	151					mRNA processing (GO:0006397)|regulation of transcription, DNA-templated (GO:0006355)|RNA processing (GO:0006396)|RNA splicing (GO:0008380)|transcription, DNA-templated (GO:0006351)	microtubule cytoskeleton (GO:0015630)|microtubule organizing center (GO:0005815)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	nucleotide binding (GO:0000166)|poly(A) RNA binding (GO:0044822)	p.D151V(1)		breast(2)|central_nervous_system(1)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(3)|kidney(5)|large_intestine(6)|lung(6)|ovary(2)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)	35	all_epithelial(2;0.00295)|Lung NSC(9;0.00453)|Breast(12;0.00544)|all_lung(11;0.00676)					TGTCCTTGCATCTCTTTCCTC	0.318																																						dbGAP											1	Substitution - Missense(1)	haematopoietic_and_lymphoid_tissue(1)											96.0	95.0	96.0					20																	34313042		2202	4300	6502	-	-	-	SO:0001583	missense	0			L10910	CCDS13265.1, CCDS13266.1, CCDS56186.1	20q11.22	2014-07-03	2006-07-11	2006-07-11	ENSG00000131051	ENSG00000131051		"""RNA binding motif (RRM) containing"""	15923	protein-coding gene	gene with protein product	"""coactivator of activating protein-1 and estrogen receptors"", ""functional spliceosome-associated protein 59"""	604739	"""RNA-binding region (RNP1, RRM) containing 2"""	RNPC2		8227358, 15694343, 21551269	Standard	NM_184234		Approved	CC1.3, HCC1, CAPER, fSAP59, CAPERalpha	uc002xeb.3	Q14498	OTTHUMG00000032358	ENST00000253363.6:c.452A>T	20.37:g.34313042T>A	ENSP00000253363:p.Asp151Val		A2RRD3|A5D8W2|B0BLV3|E1P5S0|E1P5S1|Q14499	Missense_Mutation	SNP	pfam_RRM_dom,smart_RRM_dom,smart_RRM_dom_euk,pfscan_RRM_dom,tigrfam_CC1_SF	p.D151V	ENST00000253363.6	37	c.452	CCDS13266.1	20	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	T|T	26.4|26.4	4.738676|4.738676	0.89573|0.89573	.|.	.|.	ENSG00000131051|ENSG00000131051	ENST00000253363;ENST00000361162;ENST00000528062;ENST00000374038;ENST00000427743;ENST00000434927|ENST00000448303	T;T;T;T;T;T|T	0.52057|0.05925	0.68;0.68;0.68;0.94;0.94;0.68|3.37	5.0|5.0	5.0|5.0	0.66597|0.66597	Nucleotide-binding, alpha-beta plait (1);|.	0.046134|.	0.85682|.	D|.	0.000000|.	T|T	0.26846|0.26846	0.0657|0.0657	M|M	0.86651|0.86651	2.83|2.83	0.80722|0.80722	D|D	1|1	D;D;D;D;D|.	0.89917|.	1.0;1.0;1.0;1.0;1.0|.	D;D;D;D;D|.	0.97110|.	1.0;1.0;0.998;0.997;0.997|.	T|T	0.07539|0.07539	-1.0767|-1.0767	10|7	0.72032|0.87932	D|D	0.01|0	.|.	14.8752|14.8752	0.70488|0.70488	0.0:0.0:0.0:1.0|0.0:0.0:0.0:1.0	.|.	129;129;151;151;127|.	B4DRA0;A2RRD3;Q14498-2;Q14498;B3KWX7|.	.;.;.;RBM39_HUMAN;.|.	V|S	151;151;129;150;129;151|23	ENSP00000253363:D151V;ENSP00000354437:D151V;ENSP00000436747:D129V;ENSP00000363150:D150V;ENSP00000406801:D129V;ENSP00000393493:D151V|ENSP00000394824:R23S	ENSP00000253363:D151V|ENSP00000394824:R23S	D|R	-|-	2|3	0|2	RBM39|RBM39	33776456|33776456	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.999000|0.999000	0.98932|0.98932	7.782000|7.782000	0.85680|0.85680	2.101000|2.101000	0.63845|0.63845	0.533000|0.533000	0.62120|0.62120	GAT|AGA	RBM39	-	tigrfam_CC1_SF	ENSG00000131051		0.318	RBM39-002	KNOWN	basic|CCDS	protein_coding	RBM39	HGNC	protein_coding	OTTHUMT00000078931.2	77	0.00	0	T	NM_184237		34313042	34313042	-1	no_errors	ENST00000253363	ensembl	human	known	69_37n	missense	77	16.30	15	SNP	1.000	A
RBMX	27316	genome.wustl.edu	37	X	135960146	135960147	+	Frame_Shift_Ins	INS	-	-	AA			TCGA-D8-A1JH-01A-11D-A188-09	TCGA-D8-A1JH-10A-01D-A13O-09	-	-					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	9f59481d-be89-4361-8cc3-3f1d46702016	68f2e564-b0dc-4e75-bc4d-9d849d9ac596	g.chrX:135960146_135960147insAA	ENST00000320676.7	-	4	469_470	c.315_316insTT	c.(313-318)cctccafs	p.P106fs	RBMX_ENST00000562646.1_Frame_Shift_Ins_p.P106fs|SNORD61_ENST00000384252.1_RNA|RBMX_ENST00000570135.1_Intron|RBMX_ENST00000431446.3_Intron|RBMX_ENST00000565438.1_5'UTR	NM_002139.3	NP_002130.2	P38159	RBMX_HUMAN	RNA binding motif protein, X-linked	106					cellular response to interleukin-1 (GO:0071347)|gene expression (GO:0010467)|membrane protein ectodomain proteolysis (GO:0006509)|mRNA splicing, via spliceosome (GO:0000398)|negative regulation of mRNA splicing, via spliceosome (GO:0048025)|osteoblast differentiation (GO:0001649)|positive regulation of mRNA splicing, via spliceosome (GO:0048026)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|protein homooligomerization (GO:0051260)|regulation of alternative mRNA splicing, via spliceosome (GO:0000381)|RNA splicing (GO:0008380)|transcription from RNA polymerase II promoter (GO:0006366)	catalytic step 2 spliceosome (GO:0071013)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|membrane (GO:0016020)|nuclear euchromatin (GO:0005719)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|ribonucleoprotein complex (GO:0030529)|supraspliceosomal complex (GO:0044530)	chromatin binding (GO:0003682)|core promoter binding (GO:0001047)|mRNA binding (GO:0003729)|nucleotide binding (GO:0000166)|poly(A) RNA binding (GO:0044822)|RNA binding (GO:0003723)	p.P106fs*32(1)		NS(1)|central_nervous_system(1)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(5)|large_intestine(2)|lung(12)|ovary(2)|pancreas(1)|prostate(2)|urinary_tract(1)	33	Acute lymphoblastic leukemia(192;0.000127)					AGACCTCTTGGAGGGCCTCTAC	0.535																																						dbGAP											1	Insertion - Frameshift(1)	haematopoietic_and_lymphoid_tissue(1)																																								-	-	-	SO:0001589	frameshift_variant	0				CCDS14661.1, CCDS55510.1	Xq26	2013-05-23	2003-09-12		ENSG00000147274	ENSG00000147274		"""RNA binding motif (RRM) containing"""	9910	protein-coding gene	gene with protein product	"""heterogeneous nuclear ribonucleoprotein G"""	300199	"""RNA binding motif protein, X chromosome"""			10391206, 10391207	Standard	NM_002139		Approved	RNMX, hnRNP-G, HNRNPG	uc004fae.2	P38159	OTTHUMG00000022517	ENST00000320676.7:c.315_316insTT	X.37:g.135960146_135960147insAA	ENSP00000359645:p.Pro106fs		B4E3U4|D3DWH0|E9PG86|Q5JQ67|Q8N8Y7|Q969R3	Frame_Shift_Ins	INS	pfam_RRM_dom,pfam_RBM1CTR,smart_RRM_dom_euk,smart_RRM_dom,pfscan_RRM_dom	p.P105fs	ENST00000320676.7	37	c.316_315	CCDS14661.1	X																																																																																			RBMX	-	NULL	ENSG00000147274		0.535	RBMX-001	KNOWN	basic|appris_principal|CCDS	protein_coding	RBMX	HGNC	protein_coding	OTTHUMT00000058507.1	73	0.00	0	-	NM_002139		135960146	135960147	-1	no_errors	ENST00000320676	ensembl	human	known	69_37n	frame_shift_ins	98	11.71	13	INS	1.000:1.000	AA
RTTN	25914	genome.wustl.edu	37	18	67684697	67684697	+	Missense_Mutation	SNP	T	T	A			TCGA-D8-A1JH-01A-11D-A188-09	TCGA-D8-A1JH-10A-01D-A13O-09	T	T					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	9f59481d-be89-4361-8cc3-3f1d46702016	68f2e564-b0dc-4e75-bc4d-9d849d9ac596	g.chr18:67684697T>A	ENST00000255674.6	-	46	6653	c.6367A>T	c.(6367-6369)Atc>Ttc	p.I2123F	RTTN_ENST00000579986.1_5'Flank|RTTN_ENST00000454359.1_3'UTR	NM_173630.3	NP_775901.3	Q86VV8	RTTN_HUMAN	rotatin	2123					determination of left/right symmetry (GO:0007368)	ciliary basal body (GO:0036064)|cytoplasm (GO:0005737)				NS(1)|breast(3)|central_nervous_system(2)|endometrium(11)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(9)|lung(35)|ovary(4)|pancreas(2)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	80		Esophageal squamous(42;0.129)				TTATGAAAGATAAGAAGAGGC	0.378																																						dbGAP											0													106.0	102.0	104.0					18																	67684697		1882	4113	5995	-	-	-	SO:0001583	missense	0			AL117635	CCDS42443.1	18q22.1	2008-08-01				ENSG00000176225			18654	protein-coding gene	gene with protein product		610436				11900971	Standard	NM_173630		Approved	DKFZP434G145	uc002lkp.2	Q86VV8		ENST00000255674.6:c.6367A>T	18.37:g.67684697T>A	ENSP00000255674:p.Ile2123Phe		Q68CS9|Q6ZRL8|Q6ZTK3|Q86TG4|Q8N8N8|Q8TBQ4|Q96IN9|Q9UFJ4	Missense_Mutation	SNP	superfamily_ARM-type_fold	p.I2123F	ENST00000255674.6	37	c.6367	CCDS42443.1	18	.	.	.	.	.	.	.	.	.	.	T	19.91	3.914683	0.72983	.	.	ENSG00000176225	ENST00000255674	T	0.50548	0.74	5.39	4.24	0.50183	Armadillo-like helical (1);Armadillo-type fold (1);	0.148447	0.43579	D	0.000559	T	0.57257	0.2041	L	0.43152	1.355	0.80722	D	1	D	0.76494	0.999	D	0.71656	0.974	T	0.59857	-0.7375	10	0.72032	D	0.01	.	10.6495	0.45640	0.0:0.0753:0.0:0.9247	.	2123	Q86VV8	RTTN_HUMAN	F	2123	ENSP00000255674:I2123F	ENSP00000255674:I2123F	I	-	1	0	RTTN	65835677	1.000000	0.71417	0.913000	0.36048	0.812000	0.45895	3.365000	0.52335	2.055000	0.61198	0.377000	0.23210	ATC	RTTN	-	superfamily_ARM-type_fold	ENSG00000176225		0.378	RTTN-001	KNOWN	basic|appris_principal|CCDS	protein_coding	RTTN	HGNC	protein_coding	OTTHUMT00000442988.1	75	0.00	0	T	NM_173630		67684697	67684697	-1	no_errors	ENST00000255674	ensembl	human	known	69_37n	missense	64	17.95	14	SNP	0.992	A
SUPT16H	11198	genome.wustl.edu	37	14	21836478	21836478	+	Missense_Mutation	SNP	T	T	C			TCGA-D8-A1JH-01A-11D-A188-09	TCGA-D8-A1JH-10A-01D-A13O-09	T	T					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	9f59481d-be89-4361-8cc3-3f1d46702016	68f2e564-b0dc-4e75-bc4d-9d849d9ac596	g.chr14:21836478T>C	ENST00000216297.2	-	7	1243	c.905A>G	c.(904-906)tAt>tGt	p.Y302C		NM_007192.3	NP_009123.1	Q9Y5B9	SP16H_HUMAN	suppressor of Ty 16 homolog (S. cerevisiae)	302					DNA repair (GO:0006281)|DNA replication (GO:0006260)|gene expression (GO:0010467)|nucleosome disassembly (GO:0006337)|positive regulation of DNA-templated transcription, elongation (GO:0032786)|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)	chromosome (GO:0005694)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	poly(A) RNA binding (GO:0044822)			breast(3)|endometrium(4)|kidney(1)|large_intestine(9)|lung(6)|ovary(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	27	all_cancers(95;0.00115)		Epithelial(56;1.62e-06)|all cancers(55;1.49e-05)	GBM - Glioblastoma multiforme(265;0.0159)		CAAAAAGTTATAATTTTCTTG	0.418																																						dbGAP											0													83.0	82.0	82.0					14																	21836478		2203	4300	6503	-	-	-	SO:0001583	missense	0			AF152961	CCDS9569.1	14q11.1	2008-08-13	2001-11-28		ENSG00000092201	ENSG00000092201			11465	protein-coding gene	gene with protein product	"""facilitates chromatin remodeling 140 kDa subunit"""	605012	"""suppressor of Ty (S.cerevisiae) 16 homolog"""			9489704, 11239457	Standard	NM_007192		Approved	FACT, FACTP140, SPT16/CDC68, FLJ14010, FLJ10857, CDC68	uc001wao.2	Q9Y5B9	OTTHUMG00000029685	ENST00000216297.2:c.905A>G	14.37:g.21836478T>C	ENSP00000216297:p.Tyr302Cys		Q6GMT8|Q6P2F1|Q6PJM1|Q9NRX0	Missense_Mutation	SNP	pfam_FACT_Spt16p,pfam_Pept_M24_structural-domain,pfam_DUF1747,superfamily_Pept_M24_structural-domain	p.Y302C	ENST00000216297.2	37	c.905	CCDS9569.1	14	.	.	.	.	.	.	.	.	.	.	T	26.3	4.727453	0.89390	.	.	ENSG00000092201	ENST00000216297;ENST00000538230	T	0.81415	-1.49	5.56	5.56	0.83823	Peptidase M24, structural domain (3);	0.000000	0.85682	D	0.000000	D	0.92004	0.7467	H	0.95884	3.735	0.80722	D	1	D	0.59357	0.985	P	0.60609	0.877	D	0.94322	0.7554	10	0.87932	D	0	-3.8495	14.9803	0.71306	0.0:0.0:0.0:1.0	.	302	Q9Y5B9	SP16H_HUMAN	C	302	ENSP00000216297:Y302C	ENSP00000216297:Y302C	Y	-	2	0	SUPT16H	20906318	1.000000	0.71417	1.000000	0.80357	0.994000	0.84299	7.522000	0.81844	2.241000	0.73720	0.533000	0.62120	TAT	SUPT16H	-	pfam_Pept_M24_structural-domain,superfamily_Pept_M24_structural-domain	ENSG00000092201		0.418	SUPT16H-001	KNOWN	basic|appris_principal|CCDS	protein_coding	SUPT16H	HGNC	protein_coding	OTTHUMT00000074025.2	50	0.00	0	T			21836478	21836478	-1	no_errors	ENST00000216297	ensembl	human	known	69_37n	missense	46	23.33	14	SNP	1.000	C
TBP	6908	genome.wustl.edu	37	6	170871052	170871052	+	Silent	SNP	G	G	A	rs112083427|rs369312237	byFrequency	TCGA-D8-A1JH-01A-11D-A188-09	TCGA-D8-A1JH-10A-01D-A13O-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	9f59481d-be89-4361-8cc3-3f1d46702016	68f2e564-b0dc-4e75-bc4d-9d849d9ac596	g.chr6:170871052G>A	ENST00000392092.2	+	3	507	c.228G>A	c.(226-228)caG>caA	p.Q76Q	TBP_ENST00000230354.6_Silent_p.Q76Q|TBP_ENST00000540980.1_Silent_p.Q56Q	NM_003194.4	NP_003185.1	P20226	TBP_HUMAN	TATA box binding protein	76	Poly-Gln.				cell death (GO:0008219)|gene expression (GO:0010467)|positive regulation of transcription, DNA-templated (GO:0045893)|spermatogenesis (GO:0007283)|termination of RNA polymerase I transcription (GO:0006363)|transcription elongation from RNA polymerase I promoter (GO:0006362)|transcription elongation from RNA polymerase II promoter (GO:0006368)|transcription from RNA polymerase I promoter (GO:0006360)|transcription from RNA polymerase II promoter (GO:0006366)|transcription from RNA polymerase III promoter (GO:0006383)|transcription initiation from RNA polymerase I promoter (GO:0006361)|transcription initiation from RNA polymerase II promoter (GO:0006367)|viral process (GO:0016032)	cytoplasm (GO:0005737)|female pronucleus (GO:0001939)|male pronucleus (GO:0001940)|nuclear euchromatin (GO:0005719)|nucleoplasm (GO:0005654)|transcription factor TFIIA complex (GO:0005672)|transcription factor TFIID complex (GO:0005669)	repressing transcription factor binding (GO:0070491)|transcription factor binding (GO:0008134)|transcription regulatory region DNA binding (GO:0044212)	p.Q76Q(4)		breast(2)|central_nervous_system(1)|endometrium(5)|kidney(1)|large_intestine(2)|lung(9)|ovary(1)|prostate(4)|urinary_tract(1)	26		Breast(66;5.08e-05)|Ovarian(120;0.125)|Esophageal squamous(34;0.246)		OV - Ovarian serous cystadenocarcinoma(33;1.07e-22)|BRCA - Breast invasive adenocarcinoma(81;5.01e-06)|GBM - Glioblastoma multiforme(31;0.00591)		agcaacagcagcagcagcagc	0.572																																						dbGAP											4	Substitution - coding silent(4)	lung(3)|prostate(1)											14.0	19.0	17.0					6																	170871052		1952	3842	5794	-	-	-	SO:0001819	synonymous_variant	0			M55654	CCDS5315.1, CCDS55077.1	6q27	2014-04-02			ENSG00000112592	ENSG00000112592		"""General transcription factors"""	11588	protein-coding gene	gene with protein product		600075		GTF2D1, SCA17		2194289, 11448935	Standard	NM_003194		Approved	TFIID	uc003qxu.3	P20226	OTTHUMG00000016084	ENST00000392092.2:c.228G>A	6.37:g.170871052G>A			B4E3B3|F5H869|Q16845|Q6IBM6|Q9UC02	Silent	SNP	pfam_TBP,prints_TBP	p.Q76	ENST00000392092.2	37	c.228	CCDS5315.1	6																																																																																			TBP	-	NULL	ENSG00000112592		0.572	TBP-201	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	TBP	HGNC	protein_coding	OTTHUMT00000043271.2	10	0.00	0	G	NM_003194		170871052	170871052	+1	no_errors	ENST00000230354	ensembl	human	known	69_37n	silent	58	20.55	15	SNP	0.994	A
