#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_Mutation_Status	i_ORegAnno_bin	i_Sequence_Source	i_Sequencer	i_Sequencing_Phase	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
ADAM19	8728	genome.wustl.edu	37	5	156945842	156945842	+	Missense_Mutation	SNP	C	C	G			TCGA-E2-A156-01A-11D-A12B-09	TCGA-E2-A156-10A-01D-A12B-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	26003dce-0fc6-4538-a392-c80e1ebaa1e4	dd7e44af-58e2-43a5-af9c-29a48df02235	g.chr5:156945842C>G	ENST00000517905.1	-	7	699	c.655G>C	c.(655-657)Gat>Cat	p.D219H	ADAM19_ENST00000394020.1_Missense_Mutation_p.D221H|ADAM19_ENST00000257527.4_Missense_Mutation_p.D219H|ADAM19_ENST00000430702.2_5'UTR			Q9H013	ADA19_HUMAN	ADAM metallopeptidase domain 19	219	Peptidase M12B. {ECO:0000255|PROSITE- ProRule:PRU00276}.				heart development (GO:0007507)|membrane protein ectodomain proteolysis (GO:0006509)	integral component of membrane (GO:0016021)	metalloendopeptidase activity (GO:0004222)|zinc ion binding (GO:0008270)			breast(1)|endometrium(2)|kidney(1)|large_intestine(6)|lung(33)|ovary(3)|pancreas(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	53	Renal(175;0.00488)	Medulloblastoma(196;0.0359)|all_neural(177;0.14)	Kidney(164;0.000171)|KIRC - Kidney renal clear cell carcinoma(164;0.000785)			TCTAAATAATCAGCCACGAGG	0.453																																						dbGAP											0													182.0	181.0	181.0					5																	156945842		2203	4300	6503	-	-	-	SO:0001583	missense	0			AF311317	CCDS4338.1	5q33.3	2010-06-24	2010-06-24		ENSG00000135074	ENSG00000135074		"""ADAM metallopeptidase domain containing"""	197	protein-coding gene	gene with protein product	"""meltrin beta"""	603640	"""a disintegrin and metalloproteinase domain 19 (meltrin beta)"""			9806848	Standard	NM_033274		Approved	MLTNB	uc003lwz.4	Q9H013	OTTHUMG00000130242	ENST00000517905.1:c.655G>C	5.37:g.156945842C>G	ENSP00000428654:p.Asp219His	Somatic		WXS	Illumina GAIIx	Phase_IV	Q9BZL5|Q9UHP2	Missense_Mutation	SNP	pfam_Peptidase_M12B,pfam_Peptidase_M12B_N,pfam_ADAM_Cys-rich,pfam_Blood-coag_inhib_Disintegrin,superfamily_Blood-coag_inhib_Disintegrin,smart_Blood-coag_inhib_Disintegrin,smart_ADAM_Cys-rich,pfscan_Blood-coag_inhib_Disintegrin,pfscan_EG-like_dom,pfscan_Peptidase_M12B,prints_Blood-coag_inhib_Disintegrin	p.D221H	ENST00000517905.1	37	c.661		5	.	.	.	.	.	.	.	.	.	.	C	21.5	4.155748	0.78114	.	.	ENSG00000135074	ENST00000257527;ENST00000394020;ENST00000517905	D;D;D	0.95482	-3.72;-3.72;-3.72	5.46	5.46	0.80206	.	0.000000	0.64402	D	0.000002	D	0.98842	0.9609	H	0.98883	4.36	0.80722	D	1	D	0.89917	1.0	D	0.97110	1.0	D	0.99505	1.0954	10	0.87932	D	0	.	18.0871	0.89461	0.0:1.0:0.0:0.0	.	219	Q9H013-2	.	H	219;221;219	ENSP00000257527:D219H;ENSP00000377588:D221H;ENSP00000428654:D219H	ENSP00000257527:D219H	D	-	1	0	ADAM19	156878420	1.000000	0.71417	1.000000	0.80357	0.823000	0.46562	6.542000	0.73869	2.567000	0.86603	0.655000	0.94253	GAT	ADAM19	-	pfam_Peptidase_M12B,pfscan_Peptidase_M12B	ENSG00000135074		0.453	ADAM19-003	PUTATIVE	basic	protein_coding	ADAM19	HGNC	protein_coding	OTTHUMT00000373918.1	325	0.00	0	C	NM_033274		156945842	156945842	-1	no_errors	ENST00000394020	ensembl	human	known	69_37n	missense	215	38.04	132	SNP	1.000	G
CEP78	84131	genome.wustl.edu	37	9	80856675	80856675	+	Missense_Mutation	SNP	T	T	C			TCGA-E2-A156-01A-11D-A12B-09	TCGA-E2-A156-10A-01D-A12B-09	T	T					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	26003dce-0fc6-4538-a392-c80e1ebaa1e4	dd7e44af-58e2-43a5-af9c-29a48df02235	g.chr9:80856675T>C	ENST00000424347.2	+	4	852	c.563T>C	c.(562-564)cTg>cCg	p.L188P	CEP78_ENST00000415759.2_Missense_Mutation_p.L188P|CEP78_ENST00000376598.2_Missense_Mutation_p.L188P|CEP78_ENST00000277082.5_Missense_Mutation_p.L188P|CEP78_ENST00000376597.4_Missense_Mutation_p.L188P			Q5JTW2	CEP78_HUMAN	centrosomal protein 78kDa	188					G2/M transition of mitotic cell cycle (GO:0000086)|mitotic cell cycle (GO:0000278)	centrosome (GO:0005813)|cytosol (GO:0005829)				breast(1)|cervix(1)|endometrium(5)|large_intestine(7)|lung(4)|ovary(1)|stomach(1)|urinary_tract(1)	21						GGATGTAATCTGACATGGCAG	0.338																																						dbGAP											0													121.0	120.0	120.0					9																	80856675		1919	4125	6044	-	-	-	SO:0001583	missense	0			BC058931	CCDS47984.1, CCDS47985.1	9q21.2	2014-02-20	2005-12-01	2005-12-01	ENSG00000148019	ENSG00000148019			25740	protein-coding gene	gene with protein product			"""chromosome 9 open reading frame 81"""	C9orf81		14654843	Standard	NM_001098802		Approved	FLJ12643	uc004aky.4	Q5JTW2	OTTHUMG00000020062	ENST00000424347.2:c.563T>C	9.37:g.80856675T>C	ENSP00000411284:p.Leu188Pro	Somatic		WXS	Illumina GAIIx	Phase_IV	A1A4S8|E9PHX5|Q5BJE3|Q5JTW0|Q5JTW1|Q9H9N3	Missense_Mutation	SNP	smart_Leu-rich_rpt_RNase_inh_sub-typ	p.L188P	ENST00000424347.2	37	c.563		9	.	.	.	.	.	.	.	.	.	.	t	21.4	4.140269	0.77775	.	.	ENSG00000148019	ENST00000424347;ENST00000415085;ENST00000415759;ENST00000376597;ENST00000277082;ENST00000376598	T;T;T;T;T	0.60920	0.15;0.15;0.15;0.15;0.15	5.51	5.51	0.81932	.	0.413559	0.19247	N	0.119021	T	0.75752	0.3892	M	0.79693	2.465	0.80722	D	1	D;D;D;D	0.71674	0.998;0.996;0.997;0.998	P;P;D;P	0.64410	0.907;0.844;0.925;0.907	T	0.79222	-0.1892	10	0.87932	D	0	-3.2374	14.4717	0.67521	0.0:0.0:0.0:1.0	.	101;188;188;188	B7Z8H9;E9PHX5;Q5JTW2-2;Q5JTW2	.;.;.;CEP78_HUMAN	P	188	ENSP00000411284:L188P;ENSP00000399286:L188P;ENSP00000365782:L188P;ENSP00000277082:L188P;ENSP00000365783:L188P	ENSP00000277082:L188P	L	+	2	0	CEP78	80046495	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	7.170000	0.77587	2.080000	0.62538	0.524000	0.50904	CTG	CEP78	-	NULL	ENSG00000148019		0.338	CEP78-001	KNOWN	basic|appris_candidate	protein_coding	CEP78	HGNC	protein_coding	OTTHUMT00000052766.2	247	0.00	0	T	XM_095991		80856675	80856675	+1	no_errors	ENST00000376597	ensembl	human	known	69_37n	missense	268	18.24	60	SNP	1.000	C
CTCF	10664	genome.wustl.edu	37	16	67644796	67644796	+	Nonsense_Mutation	SNP	G	G	T			TCGA-E2-A156-01A-11D-A12B-09	TCGA-E2-A156-10A-01D-A12B-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	26003dce-0fc6-4538-a392-c80e1ebaa1e4	dd7e44af-58e2-43a5-af9c-29a48df02235	g.chr16:67644796G>T	ENST00000264010.4	+	3	505	c.61G>T	c.(61-63)Gag>Tag	p.E21*	CTCF_ENST00000401394.1_Intron	NM_006565.3	NP_006556.1	P49711	CTCF_HUMAN	CCCTC-binding factor (zinc finger protein)	21					chromatin modification (GO:0016568)|chromosome segregation (GO:0007059)|DNA methylation (GO:0006306)|maintenance of DNA methylation (GO:0010216)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|negative regulation of transcription, DNA-templated (GO:0045892)|nucleosome positioning (GO:0016584)|positive regulation of gene expression (GO:0010628)|positive regulation of transcription, DNA-templated (GO:0045893)|regulation of centromeric sister chromatid cohesion (GO:0070602)|regulation of gene expression by genetic imprinting (GO:0006349)|regulation of gene expression, epigenetic (GO:0040029)|regulation of histone acetylation (GO:0035065)|regulation of histone methylation (GO:0031060)|regulation of molecular function, epigenetic (GO:0040030)	chromosome, centromeric region (GO:0000775)|condensed chromosome (GO:0000793)|nucleolus (GO:0005730)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	chromatin insulator sequence binding (GO:0043035)|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 negative regulation of transcription (GO:0001078)|sequence-specific DNA binding (GO:0043565)|sequence-specific DNA binding transcription factor activity (GO:0003700)|transcription corepressor activity (GO:0003714)|transcription regulatory region DNA binding (GO:0044212)|zinc ion binding (GO:0008270)			breast(6)|central_nervous_system(2)|cervix(1)|endometrium(34)|haematopoietic_and_lymphoid_tissue(7)|kidney(3)|large_intestine(9)|liver(1)|lung(11)|ovary(2)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	79		Acute lymphoblastic leukemia(13;3.76e-06)|all_hematologic(13;0.000303)|Ovarian(137;0.0563)		OV - Ovarian serous cystadenocarcinoma(108;0.0166)|Epithelial(162;0.0577)		TAAAGGAAAGGAGAGAAAGAC	0.502																																					Colon(175;1200 1966 6945 23069 27405)	dbGAP											0													54.0	60.0	58.0					16																	67644796		2198	4300	6498	-	-	-	SO:0001587	stop_gained	0			U25435	CCDS10841.1, CCDS54029.1	16q21-q22.3	2013-01-08			ENSG00000102974	ENSG00000102974		"""Zinc fingers, C2H2-type"""	13723	protein-coding gene	gene with protein product	"""11 zinc finger transcriptional repressor"""	604167				8649389, 18550811	Standard	NM_006565		Approved		uc002etl.3	P49711	OTTHUMG00000137539	ENST00000264010.4:c.61G>T	16.37:g.67644796G>T	ENSP00000264010:p.Glu21*	Somatic		WXS	Illumina GAIIx	Phase_IV	B5MC38|Q53XI7|Q59EL8	Nonsense_Mutation	SNP	pfam_Znf_C2H2,smart_Znf_C2H2-like,pfscan_Znf_C2H2	p.E21*	ENST00000264010.4	37	c.61	CCDS10841.1	16	.	.	.	.	.	.	.	.	.	.	G	37	6.293724	0.97449	.	.	ENSG00000102974	ENST00000264010	.	.	.	5.19	5.19	0.71726	.	0.000000	0.64402	D	0.000001	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.87932	D	0	-4.5812	18.8924	0.92410	0.0:0.0:1.0:0.0	.	.	.	.	X	21	.	ENSP00000264010:E21X	E	+	1	0	CTCF	66202297	1.000000	0.71417	1.000000	0.80357	0.983000	0.72400	8.003000	0.88520	2.696000	0.92011	0.655000	0.94253	GAG	CTCF	-	NULL	ENSG00000102974		0.502	CTCF-001	KNOWN	basic|appris_principal|CCDS	protein_coding	CTCF	HGNC	protein_coding	OTTHUMT00000268870.2	74	0.00	0	G	NM_006565		67644796	67644796	+1	no_errors	ENST00000264010	ensembl	human	known	69_37n	nonsense	5	86.11	31	SNP	1.000	T
DAK	26007	genome.wustl.edu	37	11	61105416	61105416	+	Missense_Mutation	SNP	T	T	A			TCGA-E2-A156-01A-11D-A12B-09	TCGA-E2-A156-10A-01D-A12B-09	T	T					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	26003dce-0fc6-4538-a392-c80e1ebaa1e4	dd7e44af-58e2-43a5-af9c-29a48df02235	g.chr11:61105416T>A	ENST00000394900.3	+	3	236	c.7T>A	c.(7-9)Tcc>Acc	p.S3T	DAK_ENST00000530057.1_3'UTR	NM_015533.3	NP_056348.2	Q3LXA3	DHAK_HUMAN	dihydroxyacetone kinase 2 homolog (S. cerevisiae)	3					carbohydrate phosphorylation (GO:0046835)|cellular carbohydrate metabolic process (GO:0044262)|glycerol metabolic process (GO:0006071)|innate immune response (GO:0045087)|regulation of innate immune response (GO:0045088)	cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|nucleus (GO:0005634)	ATP binding (GO:0005524)|FAD-AMP lyase (cyclizing) activity (GO:0034012)|glycerone kinase activity (GO:0004371)|metal ion binding (GO:0046872)|triokinase activity (GO:0050354)			NS(1)|breast(3)|endometrium(3)|large_intestine(5)|lung(8)|prostate(2)|upper_aerodigestive_tract(1)	23						CTTGCAGACCTCCAAGAAGCT	0.617																																						dbGAP											0													97.0	73.0	81.0					11																	61105416		2203	4299	6502	-	-	-	SO:0001583	missense	0				CCDS8003.1	11q12.2	2009-11-06	2006-04-04		ENSG00000149476	ENSG00000149476			24552	protein-coding gene	gene with protein product		615844	"""dihydroxyacetone kinase 2 homolog (yeast)"""				Standard	XM_005273898		Approved	DKFZP586B1621, NET45	uc001nre.3	Q3LXA3	OTTHUMG00000168076	ENST00000394900.3:c.7T>A	11.37:g.61105416T>A	ENSP00000378360:p.Ser3Thr	Somatic		WXS	Illumina GAIIx	Phase_IV	Q2L9C1|Q53EQ9|Q9BVA7|Q9H895	Missense_Mutation	SNP	pfam_Dak1,pfam_Dak2,superfamily_Dak2,tigrfam_DhaK_ATP	p.S3T	ENST00000394900.3	37	c.7	CCDS8003.1	11	.	.	.	.	.	.	.	.	.	.	T	9.993	1.231439	0.22626	.	.	ENSG00000149476	ENST00000394900;ENST00000532173;ENST00000524968;ENST00000529479	T;T	0.30448	1.55;1.53	5.8	5.8	0.92144	.	0.338156	0.32273	N	0.006333	T	0.15522	0.0374	N	0.19112	0.55	0.80722	D	1	B	0.24483	0.104	B	0.21708	0.036	T	0.12293	-1.0553	10	0.06891	T	0.86	-19.162	6.4977	0.22152	0.1399:0.0743:0.0:0.7858	.	3	Q3LXA3	DHAK_HUMAN	T	3;3;3;2	ENSP00000378360:S3T;ENSP00000432539:S2T	ENSP00000378360:S3T	S	+	1	0	DAK	60861992	0.983000	0.35010	0.990000	0.47175	0.372000	0.29890	1.698000	0.37794	2.231000	0.72958	0.454000	0.30748	TCC	DAK	-	NULL	ENSG00000149476		0.617	DAK-001	KNOWN	basic|appris_principal|CCDS	protein_coding	DAK	HGNC	protein_coding	OTTHUMT00000394425.4	105	0.00	0	T	NM_015533		61105416	61105416	+1	no_errors	ENST00000394900	ensembl	human	known	69_37n	missense	81	38.64	51	SNP	0.974	A
DSP	1832	genome.wustl.edu	37	6	7583485	7583485	+	Missense_Mutation	SNP	G	G	T			TCGA-E2-A156-01A-11D-A12B-09	TCGA-E2-A156-10A-01D-A12B-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	26003dce-0fc6-4538-a392-c80e1ebaa1e4	dd7e44af-58e2-43a5-af9c-29a48df02235	g.chr6:7583485G>T	ENST00000379802.3	+	24	6331	c.5990G>T	c.(5989-5991)gGg>gTg	p.G1997V	DSP_ENST00000418664.2_Missense_Mutation_p.G1398V	NM_004415.2	NP_004406.2	P15924	DESP_HUMAN	desmoplakin	1997	4.5 X 38 AA tandem repeats (Domain A).|Globular 2.				adherens junction organization (GO:0034332)|apoptotic process (GO:0006915)|bundle of His cell to Purkinje myocyte communication (GO:0086069)|cellular component disassembly involved in execution phase of apoptosis (GO:0006921)|desmosome organization (GO:0002934)|epidermis development (GO:0008544)|intermediate filament organization (GO:0045109)|keratinocyte differentiation (GO:0030216)|peptide cross-linking (GO:0018149)|protein localization to adherens junction (GO:0071896)|regulation of heart rate by cardiac conduction (GO:0086091)|single organismal cell-cell adhesion (GO:0016337)|ventricular cardiac muscle cell action potential (GO:0086005)|ventricular compact myocardium morphogenesis (GO:0003223)|wound healing (GO:0042060)	basolateral plasma membrane (GO:0016323)|cornified envelope (GO:0001533)|desmosome (GO:0030057)|extracellular vesicular exosome (GO:0070062)|fascia adherens (GO:0005916)|intercalated disc (GO:0014704)|intermediate filament (GO:0005882)|mitochondrion (GO:0005739)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	poly(A) RNA binding (GO:0044822)|protein binding, bridging (GO:0030674)|protein kinase C binding (GO:0005080)|scaffold protein binding (GO:0097110)|structural constituent of cytoskeleton (GO:0005200)|structural molecule activity (GO:0005198)			biliary_tract(1)|breast(6)|central_nervous_system(7)|cervix(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(16)|liver(2)|lung(27)|ovary(4)|prostate(1)|skin(8)|stomach(3)|upper_aerodigestive_tract(7)|urinary_tract(5)	101	Ovarian(93;0.0584)	all_hematologic(90;0.236)		OV - Ovarian serous cystadenocarcinoma(45;0.000508)		CTATTGAAGGGGAAGAAGTCA	0.473																																						dbGAP											0													82.0	86.0	85.0					6																	7583485		2203	4300	6503	-	-	-	SO:0001583	missense	0			J05211	CCDS4501.1, CCDS47368.1	6p24.3	2014-09-17	2003-05-20		ENSG00000096696	ENSG00000096696			3052	protein-coding gene	gene with protein product		125647	"""desmoplakin (DPI, DPII)"""			1889810	Standard	NM_004415		Approved	KPPS2, PPKS2, DPI, DPII	uc003mxp.1	P15924	OTTHUMG00000014212	ENST00000379802.3:c.5990G>T	6.37:g.7583485G>T	ENSP00000369129:p.Gly1997Val	Somatic		WXS	Illumina GAIIx	Phase_IV	B2RTT2|D7RX09|O75993|Q14189|Q9UHN4	Missense_Mutation	SNP	pfam_Plectin_repeat,smart_Spectrin/alpha-actinin,smart_Plectin_repeat	p.G1997V	ENST00000379802.3	37	c.5990	CCDS4501.1	6	.	.	.	.	.	.	.	.	.	.	G	23.2	4.393411	0.83011	.	.	ENSG00000096696	ENST00000379802;ENST00000418664	T;T	0.71222	-0.55;-0.55	4.99	4.99	0.66335	.	0.000000	0.64402	D	0.000016	D	0.83376	0.5241	M	0.83312	2.635	0.58432	D	0.999997	D;D	0.89917	1.0;1.0	D;D	0.91635	0.999;0.999	D	0.84840	0.0807	10	0.54805	T	0.06	.	18.6308	0.91359	0.0:0.0:1.0:0.0	.	1445;1997	Q4LE79;P15924	.;DESP_HUMAN	V	1997;1398	ENSP00000369129:G1997V;ENSP00000396591:G1398V	ENSP00000369129:G1997V	G	+	2	0	DSP	7528484	1.000000	0.71417	1.000000	0.80357	0.996000	0.88848	7.933000	0.87642	2.450000	0.82876	0.655000	0.94253	GGG	DSP	-	NULL	ENSG00000096696		0.473	DSP-001	KNOWN	basic|appris_principal|CCDS	protein_coding	DSP	HGNC	protein_coding	OTTHUMT00000039786.2	216	0.00	0	G	NM_004415		7583485	7583485	+1	no_errors	ENST00000379802	ensembl	human	known	69_37n	missense	143	39.15	92	SNP	1.000	T
DSPP	1834	genome.wustl.edu	37	4	88537151	88537151	+	Missense_Mutation	SNP	G	G	A	rs368984442		TCGA-E2-A156-01A-11D-A12B-09	TCGA-E2-A156-10A-01D-A12B-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	26003dce-0fc6-4538-a392-c80e1ebaa1e4	dd7e44af-58e2-43a5-af9c-29a48df02235	g.chr4:88537151G>A	ENST00000282478.7	+	4	3370	c.3337G>A	c.(3337-3339)Gat>Aat	p.D1113N	DSPP_ENST00000399271.1_Missense_Mutation_p.D1113N|RP11-742B18.1_ENST00000506480.1_RNA			Q9NZW4	DSPP_HUMAN	dentin sialophosphoprotein	1113	Asp/Ser-rich.			Missing (in Ref. 1; AAF42472 and 3; AAD16120). {ECO:0000305}.	biomineral tissue development (GO:0031214)|cellular response to cell-matrix adhesion (GO:0071460)|extracellular matrix organization (GO:0030198)|multicellular organismal development (GO:0007275)|ossification (GO:0001503)|skeletal system development (GO:0001501)	cytoplasm (GO:0005737)|extracellular region (GO:0005576)|proteinaceous extracellular matrix (GO:0005578)	calcium ion binding (GO:0005509)|collagen binding (GO:0005518)|extracellular matrix structural constituent (GO:0005201)			breast(2)|central_nervous_system(1)|endometrium(9)|kidney(4)|large_intestine(8)|lung(13)|ovary(1)|skin(3)|stomach(3)|upper_aerodigestive_tract(2)|urinary_tract(1)	47		Hepatocellular(203;0.114)|all_hematologic(202;0.236)		OV - Ovarian serous cystadenocarcinoma(123;0.000508)		tgacagcagcgatagcagtga	0.537																																						dbGAP											0													16.0	22.0	20.0					4																	88537151		1244	2351	3595	-	-	-	SO:0001583	missense	0			AF163151	CCDS43248.1	4q21.3	2008-02-05			ENSG00000152591	ENSG00000152591			3054	protein-coding gene	gene with protein product		125485		DFNA39, DGI1		8995371, 9533027	Standard	NM_014208		Approved	DMP3	uc003hqu.3	Q9NZW4	OTTHUMG00000161061	ENST00000282478.7:c.3337G>A	4.37:g.88537151G>A	ENSP00000282478:p.Asp1113Asn	Somatic		WXS	Illumina GAIIx	Phase_IV	A8MUI0|O95815	Missense_Mutation	SNP	NULL	p.D1113N	ENST00000282478.7	37	c.3337	CCDS43248.1	4	.	.	.	.	.	.	.	.	.	.	G	5.178	0.218347	0.09810	.	.	ENSG00000152591	ENST00000399271;ENST00000282478	D;D	0.89939	-2.59;-2.59	1.66	-0.214	0.13161	.	.	.	.	.	T	0.76154	0.3948	L	0.34521	1.04	0.09310	N	1	B	0.17038	0.02	B	0.06405	0.002	T	0.59043	-0.7528	9	0.05351	T	0.99	.	4.3196	0.11011	0.3922:0.0:0.6078:0.0	.	1113	Q9NZW4	DSPP_HUMAN	N	1113	ENSP00000382213:D1113N;ENSP00000282478:D1113N	ENSP00000282478:D1113N	D	+	1	0	DSPP	88756175	0.327000	0.24678	0.020000	0.16555	0.068000	0.16541	1.439000	0.35013	-0.096000	0.12329	-0.791000	0.03333	GAT	DSPP	-	NULL	ENSG00000152591		0.537	DSPP-001	KNOWN	not_organism_supported|basic|appris_principal|CCDS	protein_coding	DSPP	HGNC	protein_coding	OTTHUMT00000363616.3	55	0.00	0	G	NM_014208		88537151	88537151	+1	no_errors	ENST00000282478	ensembl	human	known	69_37n	missense	44	12.00	6	SNP	0.494	A
FMN1	342184	genome.wustl.edu	37	15	33256405	33256405	+	Frame_Shift_Del	DEL	T	T	-			TCGA-E2-A156-01A-11D-A12B-09	TCGA-E2-A156-10A-01D-A12B-09	T	T					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	26003dce-0fc6-4538-a392-c80e1ebaa1e4	dd7e44af-58e2-43a5-af9c-29a48df02235	g.chr15:33256405delT	ENST00000559047.1	-	6	3040	c.3041delA	c.(3040-3042)gacfs	p.D1014fs	FMN1_ENST00000561249.1_Frame_Shift_Del_p.D916fs|FMN1_ENST00000334528.9_Frame_Shift_Del_p.D791fs			Q68DA7	FMN1_HUMAN	formin 1	1014	FH2. {ECO:0000255|PROSITE- ProRule:PRU00774}.				actin nucleation (GO:0045010)	actin filament (GO:0005884)|cell junction (GO:0030054)|cytoplasm (GO:0005737)|nucleus (GO:0005634)|plasma membrane (GO:0005886)				endometrium(3)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(3)|lung(14)|ovary(2)|prostate(1)|upper_aerodigestive_tract(3)	29		all_lung(180;1.14e-07)		all cancers(64;3.05e-15)|Epithelial(43;1.67e-10)|GBM - Glioblastoma multiforme(186;4.95e-05)|BRCA - Breast invasive adenocarcinoma(123;0.0262)		TTCACTGGGGTCCCGAATGTC	0.378																																						dbGAP											0													164.0	149.0	154.0					15																	33256405		1815	4069	5884	-	-	-	SO:0001589	frameshift_variant	0			AH002864	CCDS45209.1, CCDS61581.1, CCDS61582.1	15q13.3	2013-06-13	2005-01-20	2005-01-22	ENSG00000248905	ENSG00000248905			3768	protein-coding gene	gene with protein product	"""limb deformity protein"""	136535	"""formin (limb deformity)"""	LD, FMN		1673046	Standard	NM_001277313		Approved	DKFZP686C2281, FLJ45135, MGC125288, MGC125289	uc031qrh.1	Q68DA7	OTTHUMG00000172201	ENST00000559047.1:c.3041delA	15.37:g.33256405delT	ENSP00000454047:p.Asp1014fs	Somatic		WXS	Illumina GAIIx	Phase_IV	Q3B7I6|Q3ZAR4|Q6ZSY1	Frame_Shift_Del	DEL	pfam_FH2_actin-bd,superfamily_FH2_actin-bd,smart_Actin-bd_FH2/DRF_autoreg,prints_Formin	p.D791fs	ENST00000559047.1	37	c.2372		15																																																																																			FMN1	-	pfam_FH2_actin-bd,superfamily_FH2_actin-bd,smart_Actin-bd_FH2/DRF_autoreg,prints_Formin	ENSG00000248905		0.378	FMN1-005	NOVEL	basic|exp_conf	protein_coding	FMN1	HGNC	protein_coding	OTTHUMT00000417414.1	562	0.00	0	T	NM_001103184		33256405	33256405	-1	no_errors	ENST00000334528	ensembl	human	known	69_37n	frame_shift_del	277	38.11	186	DEL	1.000	-
HDLBP	3069	genome.wustl.edu	37	2	242202328	242202328	+	Missense_Mutation	SNP	G	G	A			TCGA-E2-A156-01A-11D-A12B-09	TCGA-E2-A156-10A-01D-A12B-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	26003dce-0fc6-4538-a392-c80e1ebaa1e4	dd7e44af-58e2-43a5-af9c-29a48df02235	g.chr2:242202328G>A	ENST00000391975.1	-	5	475	c.248C>T	c.(247-249)cCc>cTc	p.P83L	HDLBP_ENST00000391976.2_Missense_Mutation_p.P83L|HDLBP_ENST00000310931.4_Missense_Mutation_p.P83L|HDLBP_ENST00000427183.2_Missense_Mutation_p.P119L	NM_203346.3	NP_976221	Q00341	VIGLN_HUMAN	high density lipoprotein binding protein	83					cholesterol metabolic process (GO:0008203)|lipid transport (GO:0006869)	cytoplasm (GO:0005737)|high-density lipoprotein particle (GO:0034364)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	lipid binding (GO:0008289)|poly(A) RNA binding (GO:0044822)			breast(7)|cervix(1)|endometrium(8)|kidney(1)|large_intestine(11)|lung(8)|ovary(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(2)|urinary_tract(1)	44		all_cancers(19;7.77e-41)|all_epithelial(40;1.74e-18)|Breast(86;1.53e-05)|Renal(207;0.00179)|all_lung(227;0.00338)|Ovarian(221;0.00556)|Lung NSC(271;0.0121)|Esophageal squamous(248;0.129)|all_hematologic(139;0.158)|Melanoma(123;0.16)|all_neural(83;0.243)|Hepatocellular(293;0.244)		Epithelial(32;8.13e-34)|all cancers(36;4.71e-31)|OV - Ovarian serous cystadenocarcinoma(60;2.34e-15)|Kidney(56;3.72e-09)|KIRC - Kidney renal clear cell carcinoma(57;3.76e-08)|BRCA - Breast invasive adenocarcinoma(100;3.38e-06)|Lung(119;0.000109)|LUSC - Lung squamous cell carcinoma(224;0.000964)|Colorectal(34;0.0132)|COAD - Colon adenocarcinoma(134;0.0928)		CTCCTCCAGGGGTACATGGAA	0.413																																						dbGAP											0													125.0	106.0	112.0					2																	242202328		2203	4300	6503	-	-	-	SO:0001583	missense	0				CCDS2547.1, CCDS58760.1	2q37.3	2008-07-18	2008-07-18		ENSG00000115677	ENSG00000115677			4857	protein-coding gene	gene with protein product		142695	"""vigilin"""	VGL		1318310, 8390966	Standard	NM_005336		Approved	HBP	uc002waz.3	Q00341	OTTHUMG00000133391	ENST00000391975.1:c.248C>T	2.37:g.242202328G>A	ENSP00000375836:p.Pro83Leu	Somatic		WXS	Illumina GAIIx	Phase_IV	B4DTQ2|E7EM71|Q53QU2|Q9UCY3	Missense_Mutation	SNP	pfam_KH_dom_type_1,smart_KH_dom,pfscan_KH_dom_type_1	p.P83L	ENST00000391975.1	37	c.248	CCDS2547.1	2	.	.	.	.	.	.	.	.	.	.	G	25.4	4.637981	0.87760	.	.	ENSG00000115677	ENST00000391975;ENST00000391976;ENST00000310931;ENST00000427183;ENST00000422933;ENST00000428482;ENST00000442714;ENST00000452065;ENST00000444092;ENST00000430918;ENST00000441124;ENST00000426343	T;T;T;T;T;T;T;T;T;T;T;T	0.79454	2.14;2.14;2.14;2.04;1.25;0.66;-1.27;0.57;0.4;0.39;0.21;-0.69	5.96	5.09	0.68999	.	0.046947	0.85682	N	0.000000	T	0.77711	0.4171	M	0.69523	2.12	0.80722	D	1	P;P	0.45569	0.613;0.861	B;B	0.40982	0.269;0.345	T	0.81245	-0.1020	10	0.87932	D	0	-17.0912	14.9321	0.70923	0.0679:0.0:0.9321:0.0	.	119;83	E7EM71;Q00341	.;VIGLN_HUMAN	L	83;83;83;119;83;83;83;83;83;83;83;83	ENSP00000375836:P83L;ENSP00000375837:P83L;ENSP00000312042:P83L;ENSP00000399139:P119L;ENSP00000403807:P83L;ENSP00000405109:P83L;ENSP00000413891:P83L;ENSP00000387782:P83L;ENSP00000416559:P83L;ENSP00000403913:P83L;ENSP00000396964:P83L;ENSP00000394205:P83L	ENSP00000312042:P83L	P	-	2	0	HDLBP	241851001	1.000000	0.71417	0.997000	0.53966	0.993000	0.82548	9.787000	0.99055	1.537000	0.49254	0.655000	0.94253	CCC	HDLBP	-	NULL	ENSG00000115677		0.413	HDLBP-001	KNOWN	basic|appris_principal|CCDS	protein_coding	HDLBP	HGNC	protein_coding	OTTHUMT00000257245.5	410	0.00	0	G	NM_203346		242202328	242202328	-1	no_errors	ENST00000310931	ensembl	human	known	69_37n	missense	304	42.05	222	SNP	1.000	A
HSF1	3297	genome.wustl.edu	37	8	145535048	145535048	+	Missense_Mutation	SNP	C	C	G			TCGA-E2-A156-01A-11D-A12B-09	TCGA-E2-A156-10A-01D-A12B-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	26003dce-0fc6-4538-a392-c80e1ebaa1e4	dd7e44af-58e2-43a5-af9c-29a48df02235	g.chr8:145535048C>G	ENST00000528838.1	+	6	766	c.606C>G	c.(604-606)atC>atG	p.I202M	HSF1_ENST00000400780.4_Missense_Mutation_p.I137M	NM_005526.2	NP_005517.1	Q00613	HSF1_HUMAN	heat shock transcription factor 1	202	Hydrophobic repeat HR-A/B.				cellular response to heat (GO:0034605)|defense response (GO:0006952)|embryonic placenta development (GO:0001892)|embryonic process involved in female pregnancy (GO:0060136)|female meiotic division (GO:0007143)|negative regulation of cell proliferation (GO:0008285)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|negative regulation of tumor necrosis factor production (GO:0032720)|positive regulation of multicellular organism growth (GO:0040018)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|protein phosphorylation (GO:0006468)|regulation of spindle checkpoint (GO:0090231)|response to lipopolysaccharide (GO:0032496)|spermatogenesis (GO:0007283)	cytoplasm (GO:0005737)|nucleus (GO:0005634)|pronucleus (GO:0045120)|protein complex (GO:0043234)	chromatin binding (GO:0003682)|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 negative regulation of transcription (GO:0001078)|RNA polymerase II intronic transcription regulatory region sequence-specific DNA binding (GO:0001162)|sequence-specific DNA binding transcription factor activity (GO:0003700)			endometrium(1)|large_intestine(1)|lung(3)|prostate(3)|skin(1)|urinary_tract(2)	11	all_cancers(97;6.64e-12)|all_epithelial(106;2.89e-10)|Lung NSC(106;5.7e-05)|all_lung(105;0.000174)|Ovarian(258;0.0173)|Acute lymphoblastic leukemia(118;0.155)		OV - Ovarian serous cystadenocarcinoma(54;3.94e-40)|Epithelial(56;1.12e-39)|all cancers(56;9.11e-35)|BRCA - Breast invasive adenocarcinoma(115;0.0547)|Colorectal(110;0.055)			CAAACCGGATCCTGGGGGTGA	0.632																																						dbGAP											0													71.0	77.0	75.0					8																	145535048		2203	4296	6499	-	-	-	SO:0001583	missense	0			M64673	CCDS6419.1	8q24.3	2014-04-10			ENSG00000185122	ENSG00000185122			5224	protein-coding gene	gene with protein product		140580				1871105	Standard	NM_005526		Approved	HSTF1	uc003zbt.4	Q00613	OTTHUMG00000174604	ENST00000528838.1:c.606C>G	8.37:g.145535048C>G	ENSP00000431512:p.Ile202Met	Somatic		WXS	Illumina GAIIx	Phase_IV	A8K4L0|A8MW26|Q53XT4	Missense_Mutation	SNP	pfam_Vert_HS_TF,pfam_HSF_DNA-bd,smart_HSF_DNA-bd,prints_HSF_DNA-bd	p.I202M	ENST00000528838.1	37	c.606	CCDS6419.1	8	.	.	.	.	.	.	.	.	.	.	C	14.42	2.528646	0.44969	.	.	ENSG00000185122	ENST00000528838;ENST00000533240;ENST00000400780	.	.	.	5.5	4.63	0.57726	.	0.122848	0.53938	D	0.000054	T	0.55242	0.1908	L	0.34521	1.04	0.34895	D	0.745956	D	0.62365	0.991	D	0.64410	0.925	T	0.63391	-0.6648	9	0.35671	T	0.21	-17.9673	7.9017	0.29738	0.0:0.7527:0.1615:0.0859	.	202	Q00613	HSF1_HUMAN	M	202;137;137	.	ENSP00000383590:I137M	I	+	3	3	HSF1	145505856	0.668000	0.27493	1.000000	0.80357	0.997000	0.91878	1.366000	0.34193	1.319000	0.45190	0.655000	0.94253	ATC	HSF1	-	NULL	ENSG00000185122		0.632	HSF1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	HSF1	HGNC	protein_coding	OTTHUMT00000382053.1	92	0.00	0	C	NM_005526		145535048	145535048	+1	no_errors	ENST00000528838	ensembl	human	known	69_37n	missense	49	43.02	37	SNP	1.000	G
MAP3K1	4214	genome.wustl.edu	37	5	56168483	56168483	+	Frame_Shift_Del	DEL	G	G	-			TCGA-E2-A156-01A-11D-A12B-09	TCGA-E2-A156-10A-01D-A12B-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	26003dce-0fc6-4538-a392-c80e1ebaa1e4	dd7e44af-58e2-43a5-af9c-29a48df02235	g.chr5:56168483delG	ENST00000399503.3	+	8	1439	c.1439delG	c.(1438-1440)agafs	p.R481fs		NM_005921.1	NP_005912.1	Q13233	M3K1_HUMAN	mitogen-activated protein kinase kinase kinase 1, E3 ubiquitin protein ligase	481					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)		GAAGAGTGTAGAAGAAATAGA	0.264																																						dbGAP											0													77.0	73.0	74.0					5																	56168483		1785	4055	5840	-	-	-	SO:0001589	frameshift_variant	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.1439delG	5.37:g.56168483delG	ENSP00000382423:p.Arg481fs	Somatic		WXS	Illumina GAIIx	Phase_IV		Frame_Shift_Del	DEL	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.R480fs	ENST00000399503.3	37	c.1439	CCDS43318.1	5																																																																																			MAP3K1	-	pfscan_Znf_RING	ENSG00000095015		0.264	MAP3K1-001	NOVEL	basic|appris_principal|exp_conf|CCDS	protein_coding	MAP3K1	HGNC	protein_coding	OTTHUMT00000132309.2	264	0.00	0	G	XM_042066		56168483	56168483	+1	no_errors	ENST00000399503	ensembl	human	novel	69_37n	frame_shift_del	95	36.48	58	DEL	1.000	-
PEAK1	79834	genome.wustl.edu	37	15	77406833	77406833	+	Missense_Mutation	SNP	G	G	A			TCGA-E2-A156-01A-11D-A12B-09	TCGA-E2-A156-10A-01D-A12B-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	26003dce-0fc6-4538-a392-c80e1ebaa1e4	dd7e44af-58e2-43a5-af9c-29a48df02235	g.chr15:77406833G>A	ENST00000560626.2	-	7	5381	c.4906C>T	c.(4906-4908)Cgg>Tgg	p.R1636W	PEAK1_ENST00000312493.4_Missense_Mutation_p.R1636W			Q9H792	PEAK1_HUMAN	pseudopodium-enriched atypical kinase 1	1636	Protein kinase. {ECO:0000255|PROSITE- ProRule:PRU00159}.				cell migration (GO:0016477)|peptidyl-tyrosine phosphorylation (GO:0018108)|protein autophosphorylation (GO:0046777)|substrate adhesion-dependent cell spreading (GO:0034446)	actin cytoskeleton (GO:0015629)|cytoplasm (GO:0005737)|focal adhesion (GO:0005925)	ATP binding (GO:0005524)|non-membrane spanning protein tyrosine kinase activity (GO:0004715)										TGCAGACCCCGGGAGTAGGGG	0.602																																						dbGAP											0													58.0	62.0	60.0					15																	77406833		1930	4131	6061	-	-	-	SO:0001583	missense	0				CCDS42062.1	15q24.3	2013-09-27			ENSG00000173517	ENSG00000173517			29431	protein-coding gene	gene with protein product		614248				16879967, 20534451	Standard	NM_024776		Approved	KIAA2002, sgk269		Q9H792	OTTHUMG00000172618	ENST00000560626.2:c.4906C>T	15.37:g.77406833G>A	ENSP00000452796:p.Arg1636Trp	Somatic		WXS	Illumina GAIIx	Phase_IV	Q6ZS78|Q8NAZ4|Q8NCM3|Q8TEG7	Missense_Mutation	SNP	pfam_Prot_kinase_cat_dom,pfam_Ser-Thr/Tyr_kinase_cat_dom,superfamily_Kinase-like_dom,smart_Ser/Thr_dual-sp_kinase_dom,pfscan_Prot_kinase_cat_dom	p.R1636W	ENST00000560626.2	37	c.4906	CCDS42062.1	15	.	.	.	.	.	.	.	.	.	.	G	12.29	1.892902	0.33442	.	.	ENSG00000173517	ENST00000312493	T	0.66815	-0.23	5.57	1.96	0.26148	Serine/threonine-protein kinase-like domain (1);Protein kinase-like domain (1);Protein kinase, catalytic domain (1);	0.373801	0.25156	N	0.032707	T	0.51652	0.1687	L	0.29908	0.895	0.27064	N	0.963495	B	0.09022	0.002	B	0.06405	0.002	T	0.48758	-0.9007	10	0.49607	T	0.09	-2.9805	10.8338	0.46675	0.2647:0.0:0.7353:0.0	.	1636	Q9H792	PEAK1_HUMAN	W	1636	ENSP00000309230:R1636W	ENSP00000309230:R1636W	R	-	1	2	AC087465.1	75193888	0.214000	0.23563	0.997000	0.53966	0.989000	0.77384	1.762000	0.38451	0.600000	0.29862	0.561000	0.74099	CGG	PEAK1	-	pfam_Prot_kinase_cat_dom,pfam_Ser-Thr/Tyr_kinase_cat_dom,superfamily_Kinase-like_dom,smart_Ser/Thr_dual-sp_kinase_dom,pfscan_Prot_kinase_cat_dom	ENSG00000173517		0.602	PEAK1-001	KNOWN	not_organism_supported|basic|appris_principal|CCDS	protein_coding	PEAK1	Clone_based_vega_gene	protein_coding	OTTHUMT00000419483.3	248	0.00	0	G			77406833	77406833	-1	no_errors	ENST00000312493	ensembl	human	known	69_37n	missense	347	13.03	52	SNP	0.882	A
PIK3CA	5290	genome.wustl.edu	37	3	178936082	178936082	+	Missense_Mutation	SNP	G	G	A	rs121913273		TCGA-E2-A156-01A-11D-A12B-09	TCGA-E2-A156-10A-01D-A12B-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	26003dce-0fc6-4538-a392-c80e1ebaa1e4	dd7e44af-58e2-43a5-af9c-29a48df02235	g.chr3:178936082G>A	ENST00000263967.3	+	10	1781	c.1624G>A	c.(1624-1626)Gaa>Aaa	p.E542K		NM_006218.2	NP_006209.2	P42336	PK3CA_HUMAN	phosphatidylinositol-4,5-bisphosphate 3-kinase, catalytic subunit alpha	542	PIK helical. {ECO:0000255|PROSITE- ProRule:PRU00878}.		E -> K (in CLOVE, KERSEB, CRC and BC; also found in glioblastoma multiforme and endometrial carcinoma; shows an increase in lipid kinase activity; oncogenic in vivo; occurs in the interface between the PI3K helical domain and the nSH2 (N- terminal SH2) region of the p85 regulatory subunit and may reduce the inhibitory effect of p85; requires interaction with RAS to induce cellular transformation). {ECO:0000269|PubMed:15289301, ECO:0000269|PubMed:15784156, ECO:0000269|PubMed:15924253, ECO:0000269|PubMed:15994075, ECO:0000269|PubMed:16322209, ECO:0000269|PubMed:16353168, ECO:0000269|PubMed:16533766, ECO:0000269|PubMed:17673550, ECO:0000269|PubMed:22658544}.|E -> Q (found in an endometrial carcinoma sample; unknown pathological significance). {ECO:0000269|PubMed:16322209}.|E -> V (in BC; unknown pathological significance). {ECO:0000269|PubMed:16353168}.		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.E542K(545)|p.E542Q(10)		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)	TCCTCTCTCTGAAATCACTGA	0.333	E542K(BT483_BREAST)|E542K(CAL51_BREAST)|E542K(HGC27_STOMACH)|E542K(IM95_STOMACH)|E542K(JHUEM1_ENDOMETRIUM)|E542K(NCIH1341_LUNG)|E542K(SW948_LARGE_INTESTINE)|E542K(T84_LARGE_INTESTINE)|E542K(VMCUB1_URINARY_TRACT)	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"""	555	Substitution - Missense(555)	breast(176)|large_intestine(166)|urinary_tract(45)|endometrium(37)|skin(19)|lung(18)|stomach(16)|ovary(16)|thyroid(14)|upper_aerodigestive_tract(9)|central_nervous_system(7)|cervix(6)|liver(6)|oesophagus(5)|penis(4)|kidney(3)|soft_tissue(2)|haematopoietic_and_lymphoid_tissue(2)|prostate(2)|biliary_tract(1)|pituitary(1)											56.0	56.0	56.0					3																	178936082		1809	4069	5878	-	-	-	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.1624G>A	3.37:g.178936082G>A	ENSP00000263967:p.Glu542Lys	Somatic		WXS	Illumina GAIIx	Phase_IV	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.E542K	ENST00000263967.3	37	c.1624	CCDS43171.1	3	.	.	.	.	.	.	.	.	.	.	G	34	5.360420	0.95877	.	.	ENSG00000121879	ENST00000263967	T	0.62105	0.05	5.78	5.78	0.91487	Phosphoinositide 3-kinase, accessory (PIK) domain (3);Armadillo-type fold (1);	0.000000	0.85682	D	0.000000	T	0.69287	0.3094	L	0.41356	1.27	0.80722	D	1	D	0.65815	0.995	D	0.63192	0.912	T	0.60296	-0.7291	10	0.09843	T	0.71	-23.9623	20.0024	0.97423	0.0:0.0:1.0:0.0	.	542	P42336	PK3CA_HUMAN	K	542	ENSP00000263967:E542K	ENSP00000263967:E542K	E	+	1	0	PIK3CA	180418776	1.000000	0.71417	1.000000	0.80357	0.978000	0.69477	9.476000	0.97823	2.722000	0.93159	0.467000	0.42956	GAA	PIK3CA	-	pfam_PInositide-3_kin_accessory_dom,superfamily_ARM-type_fold,smart_PInositide-3_kin_accessory_dom	ENSG00000121879		0.333	PIK3CA-001	KNOWN	basic|appris_principal|exp_conf|CCDS	protein_coding	PIK3CA	HGNC	protein_coding	OTTHUMT00000348409.2	265	0.00	0	G			178936082	178936082	+1	no_errors	ENST00000263967	ensembl	human	known	69_37n	missense	25	90.23	240	SNP	1.000	A
TCEB3	6924	genome.wustl.edu	37	1	24078169	24078170	+	Frame_Shift_Ins	INS	-	-	C	rs182428129		TCGA-E2-A156-01A-11D-A12B-09	TCGA-E2-A156-10A-01D-A12B-09	-	-					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	26003dce-0fc6-4538-a392-c80e1ebaa1e4	dd7e44af-58e2-43a5-af9c-29a48df02235	g.chr1:24078169_24078170insC	ENST00000418390.2	+	4	1423_1424	c.1152_1153insC	c.(1153-1155)cccfs	p.P385fs	TCEB3_ENST00000609199.1_Frame_Shift_Ins_p.P359fs	NM_003198.2	NP_003189.2	Q14241	ELOA1_HUMAN	transcription elongation factor B (SIII), polypeptide 3 (110kDa, elongin A)	385					gene expression (GO:0010467)|positive regulation of viral transcription (GO:0050434)|regulation of transcription from RNA polymerase II promoter (GO:0006357)|transcription elongation from RNA polymerase II promoter (GO:0006368)|transcription from RNA polymerase II promoter (GO:0006366)|viral process (GO:0016032)	extracellular space (GO:0005615)|integral component of membrane (GO:0016021)|nucleoplasm (GO:0005654)	DNA binding (GO:0003677)			breast(1)|endometrium(2)|kidney(1)|large_intestine(4)|lung(5)|ovary(2)|pancreas(1)|prostate(2)|skin(1)	19		Colorectal(325;3.46e-05)|Lung NSC(340;0.000112)|all_lung(284;0.00016)|Renal(390;0.000219)|Breast(348;0.0044)|Ovarian(437;0.00539)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0227)|OV - Ovarian serous cystadenocarcinoma(117;2.42e-24)|Colorectal(126;5.5e-08)|COAD - Colon adenocarcinoma(152;3.09e-06)|GBM - Glioblastoma multiforme(114;4.74e-06)|BRCA - Breast invasive adenocarcinoma(304;0.000973)|KIRC - Kidney renal clear cell carcinoma(1967;0.00334)|STAD - Stomach adenocarcinoma(196;0.0127)|READ - Rectum adenocarcinoma(331;0.0649)|Lung(427;0.0853)|LUSC - Lung squamous cell carcinoma(448;0.187)		GAGACCTGTTGCCCAAGGTAAA	0.45											OREG0013232	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)																										dbGAP											0																																										-	-	-	SO:0001589	frameshift_variant	0			L47345	CCDS239.2	1p36.1	2010-06-22	2002-08-29		ENSG00000011007	ENSG00000011007			11620	protein-coding gene	gene with protein product		600786	"""transcription elongation factor B (SIII), polypeptide 3 (110kD, elongin A)"""			8586449, 7660129	Standard	NM_003198		Approved	SIII, TCEB3A	uc001bho.3	Q14241	OTTHUMG00000002957	ENST00000418390.2:c.1155dupC	1.37:g.24078172_24078172dupC	ENSP00000395574:p.Pro385fs	Somatic	768	WXS	Illumina GAIIx	Phase_IV	B2R7Q8|Q8IXH1	Frame_Shift_Ins	INS	pfam_RNA_pol_II_trans_fac_SIII_A,pfam_TFIIS_N,superfamily_TFIIS_N,smart_TFIIS/CRSP70_N_sub,pfscan_F-box_dom_cyclin-like	p.K385fs	ENST00000418390.2	37	c.1152_1153	CCDS239.2	1																																																																																			TCEB3	-	NULL	ENSG00000011007		0.450	TCEB3-001	KNOWN	basic|CCDS	protein_coding	TCEB3	HGNC	protein_coding	OTTHUMT00000008230.2	142	0.00	0	-	NM_003198		24078169	24078170	+1	no_errors	ENST00000418390	ensembl	human	known	69_37n	frame_shift_ins	105	36.75	61	INS	0.000:0.464	C
TRBV5-4	28611	genome.wustl.edu	37	7	142168485	142168485	+	RNA	SNP	G	G	A			TCGA-E2-A156-01A-11D-A12B-09	TCGA-E2-A156-10A-01D-A12B-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	26003dce-0fc6-4538-a392-c80e1ebaa1e4	dd7e44af-58e2-43a5-af9c-29a48df02235	g.chr7:142168485G>A	ENST00000454561.2	-	0	438									T cell receptor beta variable 5-4																		AATCTAGGAGGGAAGTTTCCT	0.527																																						dbGAP											0													86.0	87.0	87.0					7																	142168485		1886	4103	5989	-	-	-			0			L36092		7q34	2012-02-07			ENSG00000230099	ENSG00000230099		"""T cell receptors / TRB locus"""	12221	other	T cell receptor gene						8650574	Standard	NG_001333		Approved	TRBV54, TCRBV5S4, TCRBV5S6A3N2T			OTTHUMG00000158524		7.37:g.142168485G>A		Somatic		WXS	Illumina GAIIx	Phase_IV		Missense_Mutation	SNP	pfam_Ig_V-set,smart_Ig_V-set_subgr,pfscan_Ig-like	p.P80S	ENST00000454561.2	37	c.238		7																																																																																			TRBV5-4	-	pfam_Ig_V-set,smart_Ig_V-set_subgr,pfscan_Ig-like	ENSG00000230099		0.527	TRBV5-4-001	KNOWN	mRNA_end_NF|cds_end_NF|basic|appris_principal	TR_V_gene	TRBV5-4	HGNC	TR_V_gene	OTTHUMT00000351230.2	183	0.00	0	G	NG_001333		142168485	142168485	-1	no_stop_codon:bad_bp_length_for_coding_region	ENST00000454561	ensembl	human	known	69_37n	missense	109	40.76	75	SNP	0.000	A
TRIM71	131405	genome.wustl.edu	37	3	32933232	32933232	+	Missense_Mutation	SNP	G	G	A			TCGA-E2-A156-01A-11D-A12B-09	TCGA-E2-A156-10A-01D-A12B-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	26003dce-0fc6-4538-a392-c80e1ebaa1e4	dd7e44af-58e2-43a5-af9c-29a48df02235	g.chr3:32933232G>A	ENST00000383763.5	+	4	2599	c.2536G>A	c.(2536-2538)Ggc>Agc	p.G846S		NM_001039111.1	NP_001034200.1	Q2Q1W2	LIN41_HUMAN	tripartite motif containing 71, E3 ubiquitin protein ligase	846					fibroblast growth factor receptor signaling pathway (GO:0008543)|G1/S transition of mitotic cell cycle (GO:0000082)|miRNA metabolic process (GO:0010586)|negative regulation of translation involved in gene silencing by miRNA (GO:0035278)|neural tube closure (GO:0001843)|neural tube development (GO:0021915)|positive regulation of gene silencing by miRNA (GO:2000637)|protein autoubiquitination (GO:0051865)|regulation of gene silencing by miRNA (GO:0060964)|regulation of neural precursor cell proliferation (GO:2000177)|stem cell proliferation (GO:0072089)	cytoplasmic mRNA processing body (GO:0000932)	ligase activity (GO:0016874)|miRNA binding (GO:0035198)|ubiquitin-protein transferase activity (GO:0004842)|zinc ion binding (GO:0008270)			breast(3)|endometrium(3)|kidney(1)|large_intestine(4)|lung(7)|ovary(3)|prostate(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	24						CCGCCCTTCCGGCATCGCCAT	0.532																																						dbGAP											0													124.0	133.0	130.0					3																	32933232		2061	4199	6260	-	-	-	SO:0001583	missense	0				CCDS43060.1	3p22.3	2014-02-17	2012-02-29		ENSG00000206557	ENSG00000206557		"""Tripartite motif containing / Tripartite motif containing"", ""RING-type (C3HC4) zinc fingers"""	32669	protein-coding gene	gene with protein product			"""tripartite motif-containing 71"", ""tripartite motif containing 71"""				Standard	NM_001039111		Approved	LIN41, LIN-41	uc003cff.3	Q2Q1W2	OTTHUMG00000155778	ENST00000383763.5:c.2536G>A	3.37:g.32933232G>A	ENSP00000373272:p.Gly846Ser	Somatic		WXS	Illumina GAIIx	Phase_IV		Missense_Mutation	SNP	pfam_NHL_repeat,pfam_Filamin/ABP280_repeat-like,pfam_Znf_B-box,superfamily_Ig_E-set,smart_Znf_RING,smart_Znf_B-box,smart_Filamin,pfscan_Filamin/ABP280_repeat-like,pfscan_NHL_repeat_subgr,pfscan_Znf_B-box,pfscan_Znf_RING	p.G846S	ENST00000383763.5	37	c.2536	CCDS43060.1	3	.	.	.	.	.	.	.	.	.	.	G	16.40	3.113959	0.56398	.	.	ENSG00000206557	ENST00000383763	D	0.82344	-1.6	5.73	5.73	0.89815	Six-bladed beta-propeller, TolB-like (1);	0.000000	0.85682	D	0.000000	D	0.90950	0.7155	M	0.77313	2.365	0.80722	D	1	D	0.76494	0.999	D	0.66979	0.948	D	0.91146	0.4949	10	0.59425	D	0.04	-35.0243	18.4554	0.90718	0.0:0.0:1.0:0.0	.	846	Q2Q1W2	LIN41_HUMAN	S	846	ENSP00000373272:G846S	ENSP00000373272:G846S	G	+	1	0	TRIM71	32908236	1.000000	0.71417	0.946000	0.38457	0.045000	0.14185	9.827000	0.99397	2.692000	0.91855	0.591000	0.81541	GGC	TRIM71	-	pfam_NHL_repeat,pfscan_NHL_repeat_subgr	ENSG00000206557		0.532	TRIM71-001	KNOWN	basic|appris_principal|CCDS	protein_coding	TRIM71	HGNC	protein_coding	OTTHUMT00000341565.3	44	0.00	0	G	NM_001039111		32933232	32933232	+1	no_errors	ENST00000383763	ensembl	human	known	69_37n	missense	48	35.90	28	SNP	1.000	A
TTN	7273	genome.wustl.edu	37	2	179514309	179514310	+	Intron	INS	-	-	TG			TCGA-E2-A156-01A-11D-A12B-09	TCGA-E2-A156-10A-01D-A12B-09	-	-					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	26003dce-0fc6-4538-a392-c80e1ebaa1e4	dd7e44af-58e2-43a5-af9c-29a48df02235	g.chr2:179514309_179514310insTG	ENST00000591111.1	-	166	35599				TTN_ENST00000589042.1_Frame_Shift_Ins_p.V13315fs|TTN-AS1_ENST00000431752.1_RNA|TTN_ENST00000342992.6_Intron|TTN_ENST00000342175.6_Intron|TTN-AS1_ENST00000585451.1_RNA|TTN-AS1_ENST00000589830.1_RNA|TTN-AS1_ENST00000592630.1_RNA|TTN_ENST00000359218.5_Intron|TTN_ENST00000460472.2_Intron|TTN-AS1_ENST00000589487.1_RNA			Q8WZ42	TITIN_HUMAN	titin						adult heart development (GO:0007512)|blood coagulation (GO:0007596)|cardiac muscle contraction (GO:0060048)|cardiac muscle fiber development (GO:0048739)|cardiac muscle hypertrophy (GO:0003300)|cardiac muscle tissue morphogenesis (GO:0055008)|cardiac myofibril assembly (GO:0055003)|detection of muscle stretch (GO:0035995)|forward locomotion (GO:0043056)|in utero embryonic development (GO:0001701)|mitotic chromosome condensation (GO:0007076)|muscle contraction (GO:0006936)|muscle filament sliding (GO:0030049)|platelet activation (GO:0030168)|platelet degranulation (GO:0002576)|regulation of catalytic activity (GO:0050790)|regulation of protein kinase activity (GO:0045859)|regulation of relaxation of cardiac muscle (GO:1901897)|response to calcium ion (GO:0051592)|sarcomere organization (GO:0045214)|sarcomerogenesis (GO:0048769)|skeletal muscle myosin thick filament assembly (GO:0030241)|skeletal muscle thin filament assembly (GO:0030240)|somitogenesis (GO:0001756)|striated muscle contraction (GO:0006941)	condensed nuclear chromosome (GO:0000794)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|extracellular region (GO:0005576)|extracellular vesicular exosome (GO:0070062)|Golgi apparatus (GO:0005794)|I band (GO:0031674)|M band (GO:0031430)|nucleus (GO:0005634)|striated muscle thin filament (GO:0005865)|Z disc (GO:0030018)	actin filament binding (GO:0051015)|actinin binding (GO:0042805)|ATP binding (GO:0005524)|calcium ion binding (GO:0005509)|calmodulin binding (GO:0005516)|enzyme binding (GO:0019899)|identical protein binding (GO:0042802)|muscle alpha-actinin binding (GO:0051371)|protease binding (GO:0002020)|protein kinase binding (GO:0019901)|protein self-association (GO:0043621)|protein serine/threonine kinase activity (GO:0004674)|structural constituent of muscle (GO:0008307)|structural molecule activity conferring elasticity (GO:0097493)|telethonin binding (GO:0031433)			NS(24)|autonomic_ganglia(1)|breast(64)|central_nervous_system(14)|cervix(14)|endometrium(96)|haematopoietic_and_lymphoid_tissue(16)|kidney(91)|large_intestine(303)|liver(1)|lung(595)|ovary(58)|pancreas(17)|prostate(38)|skin(60)|stomach(29)|upper_aerodigestive_tract(1)|urinary_tract(26)	1448			OV - Ovarian serous cystadenocarcinoma(117;0.023)|Epithelial(96;0.0454)|all cancers(119;0.134)			CTGGCTTCTTAACAGTTGGGAC	0.347																																						dbGAP											0																																										-	-	-	SO:0001627	intron_variant	0			X90568	CCDS54421.1, CCDS54422.1, CCDS54423.1, CCDS54424.1, CCDS33337.1, CCDS59435.1, CCDS74610.1	2q31	2014-09-17	2004-02-13		ENSG00000155657	ENSG00000155657		"""Immunoglobulin superfamily / I-set domain containing"", ""Immunoglobulin superfamily / Immunoglobulin-like domain containing"", ""Fibronectin type III domain containing"""	12403	protein-coding gene	gene with protein product		188840	"""cardiomyopathy, dilated 1G (autosomal dominant)"""	CMD1G		2129545, 10051295	Standard	NM_003319		Approved	CMPD4, FLJ32040, TMD, CMH9, LGMD2J, MYLK5	uc031rqd.1	Q8WZ42	OTTHUMG00000154448	ENST00000591111.1:c.35374+233->CA	2.37:g.179514309_179514310insTG		Somatic		WXS	Illumina GAIIx	Phase_IV	A6NKB1|E7EQE6|E7ET18|K7ENY1|Q10465|Q10466|Q15598|Q2XUS3|Q32Q60|Q4U1Z6|Q4ZG20|Q6NSG0|Q6PDB1|Q6PJP0|Q7KYM2|Q7KYN4|Q7KYN5|Q7LDM3|Q7Z2X3|Q8TCG8|Q8WZ42|Q8WZ51|Q8WZ52|Q8WZ53|Q8WZB3|Q92761|Q92762|Q9UD97|Q9UP84|Q9Y6L9	Frame_Shift_Ins	INS	pfam_Ig_I-set,pfam_Fibronectin_type3,pfam_Immunoglobulin,pfam_Ig_V-set,pfam_PPAK_motif,pfam_Titin_Z,pfam_Prot_kinase_cat_dom,pfam_Ser-Thr/Tyr_kinase_cat_dom,superfamily_Kinase-like_dom,superfamily_Fibronectin_type3,superfamily_Calpain_domain_III,superfamily_RNaseH-like_dom,superfamily_ARM-type_fold,smart_Ig_sub,smart_Ig_sub2,smart_Ig_V-set_subgr,smart_Fibronectin_type3,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pfscan_Fibronectin_type3,pfscan_Prot_kinase_cat_dom,pfscan_Ig-like	p.K13316fs	ENST00000591111.1	37	c.39945_39944		2																																																																																			TTN	-	superfamily_Calpain_domain_III,superfamily_RNaseH-like_dom	ENSG00000155657		0.347	TTN-019	PUTATIVE	basic	protein_coding	TTN	HGNC	protein_coding	OTTHUMT00000460310.1	14	0.00	0	-	NM_133378		179514309	179514310	-1	no_errors	ENST00000589042	ensembl	human	putative	69_37n	frame_shift_ins	1	66.67	2	INS	0.948:0.886	TG
ZNF215	7762	genome.wustl.edu	37	11	6964815	6964815	+	Nonsense_Mutation	SNP	G	G	T			TCGA-E2-A156-01A-11D-A12B-09	TCGA-E2-A156-10A-01D-A12B-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	26003dce-0fc6-4538-a392-c80e1ebaa1e4	dd7e44af-58e2-43a5-af9c-29a48df02235	g.chr11:6964815G>T	ENST00000278319.5	+	6	1243	c.655G>T	c.(655-657)Gag>Tag	p.E219*	ZNF215_ENST00000414517.2_Nonsense_Mutation_p.E219*|ZNF215_ENST00000527171.1_3'UTR|ZNF215_ENST00000529903.1_Nonsense_Mutation_p.E219*	NM_013250.2	NP_037382.2	Q9UL58	ZN215_HUMAN	zinc finger protein 215	219	KRAB. {ECO:0000255|PROSITE- ProRule:PRU00119}.				regulation of transcription from RNA polymerase II promoter (GO:0006357)|transcription from RNA polymerase II promoter (GO:0006366)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)|sequence-specific DNA binding RNA polymerase II transcription factor activity (GO:0000981)|sequence-specific DNA binding transcription factor activity (GO:0003700)			NS(4)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(5)|lung(12)|ovary(1)|prostate(2)|skin(4)	32				Epithelial(150;6.33e-08)|BRCA - Breast invasive adenocarcinoma(625;0.134)		CCTTAAGTTGGAGAGTAAGAA	0.343																																						dbGAP											0													135.0	139.0	137.0					11																	6964815		2201	4296	6497	-	-	-	SO:0001587	stop_gained	0			AF056618	CCDS7775.1	11p15.4	2013-01-09			ENSG00000149054	ENSG00000149054		"""Zinc fingers, C2H2-type"", ""-"", ""-"", ""-"""	13007	protein-coding gene	gene with protein product		605016					Standard	XM_005253130		Approved	ZKSCAN11, ZSCAN43	uc001mey.3	Q9UL58	OTTHUMG00000165507	ENST00000278319.5:c.655G>T	11.37:g.6964815G>T	ENSP00000278319:p.Glu219*	Somatic		WXS	Illumina GAIIx	Phase_IV	Q96C84	Nonsense_Mutation	SNP	pfam_Tscrpt_reg_SCAN,pfam_Znf_C2H2,pfam_Krueppel-associated_box,superfamily_Retrov_capsid_C,superfamily_Krueppel-associated_box,smart_Tscrpt_reg_SCAN,smart_Krueppel-associated_box,smart_Znf_C2H2-like,pfscan_Znf_C2H2,pfscan_Krueppel-associated_box,pfscan_Tscrpt_reg_SCAN	p.E219*	ENST00000278319.5	37	c.655	CCDS7775.1	11	.	.	.	.	.	.	.	.	.	.	G	36	5.693956	0.96793	.	.	ENSG00000149054	ENST00000278319;ENST00000414517;ENST00000529903	.	.	.	3.94	-2.76	0.05896	.	0.655352	0.12669	N	0.448973	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.45353	T	0.12	-1.3261	4.3426	0.11117	0.4132:0.2832:0.3036:0.0	.	.	.	.	X	219	.	ENSP00000278319:E219X	E	+	1	0	ZNF215	6921391	0.140000	0.22579	0.001000	0.08648	0.003000	0.03518	0.075000	0.14686	-0.722000	0.04922	-0.137000	0.14449	GAG	ZNF215	-	superfamily_Krueppel-associated_box,smart_Krueppel-associated_box,pfscan_Krueppel-associated_box	ENSG00000149054		0.343	ZNF215-002	KNOWN	basic|appris_principal|CCDS	protein_coding	ZNF215	HGNC	protein_coding	OTTHUMT00000384550.1	404	0.00	0	G			6964815	6964815	+1	no_errors	ENST00000278319	ensembl	human	known	69_37n	nonsense	225	33.23	112	SNP	0.009	T
