#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
AATK-AS1	388428	genome.wustl.edu	37	17	79152856	79152856	+	RNA	SNP	G	G	A			TCGA-E9-A227-01A-11D-A159-09	TCGA-E9-A227-10A-01D-A159-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	15eb25c4-f4a7-446e-b654-ae39ccd2cf00	1f80b7f1-4b76-4815-9cc7-05318f7fa529	g.chr17:79152856G>A	ENST00000414089.1	+	0	548				AATK-AS1_ENST00000571031.1_RNA	NR_027255.1				AATK antisense RNA 1																		GCCCCGAGATGTAAACAGGCT	0.632																																						dbGAP											0													73.0	97.0	90.0					17																	79152856		692	1591	2283	-	-	-			0					17q25.3	2012-10-12	2012-08-15		ENSG00000225180	ENSG00000225180		"""Long non-coding RNAs"""	40053	non-coding RNA	RNA, long non-coding			"""AATK antisense RNA 1 (non-protein coding)"""				Standard	NR_027255		Approved		uc010wuk.1		OTTHUMG00000150182		17.37:g.79152856G>A		Somatic		WXS	Illumina GAIIx	Phase_IV		RNA	SNP	-	NULL	ENST00000414089.1	37	NULL		17																																																																																			AATK-AS1	-	-	ENSG00000225180		0.632	AATK-AS1-001	KNOWN	basic	antisense	AATK-AS1	HGNC	antisense	OTTHUMT00000316740.1	23	0.00	0	G			79152856	79152856	+1	no_errors	ENST00000414089	ensembl	human	known	69_37n	rna	39	17.02	8	SNP	0.000	A
ATP10A	57194	genome.wustl.edu	37	15	25966903	25966903	+	Missense_Mutation	SNP	G	G	C			TCGA-E9-A227-01A-11D-A159-09	TCGA-E9-A227-10A-01D-A159-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	15eb25c4-f4a7-446e-b654-ae39ccd2cf00	1f80b7f1-4b76-4815-9cc7-05318f7fa529	g.chr15:25966903G>C	ENST00000356865.6	-	7	1375	c.1264C>G	c.(1264-1266)Cag>Gag	p.Q422E		NM_024490.3	NP_077816.1	O60312	AT10A_HUMAN	ATPase, class V, type 10A	422					ion transmembrane transport (GO:0034220)|phospholipid translocation (GO:0045332)|regulation of cell shape (GO:0008360)|transmembrane transport (GO:0055085)	endoplasmic reticulum (GO:0005783)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	ATP binding (GO:0005524)|cation-transporting ATPase activity (GO:0019829)|magnesium ion binding (GO:0000287)|phospholipid-translocating ATPase activity (GO:0004012)			NS(1)|breast(2)|endometrium(8)|kidney(2)|large_intestine(33)|liver(1)|lung(41)|ovary(3)|pancreas(2)|skin(5)|upper_aerodigestive_tract(3)|urinary_tract(2)	103		all_cancers(20;5.16e-25)|all_lung(180;1.51e-14)|Acute lymphoblastic leukemia(1;2.53e-05)|all_hematologic(1;0.000267)|Breast(32;0.00125)		all cancers(64;9.48e-07)|Epithelial(43;1.69e-06)|BRCA - Breast invasive adenocarcinoma(123;0.0252)|Lung(196;0.244)		AAAATGTACTGTATCTGTCCT	0.428																																						dbGAP											0													141.0	127.0	131.0					15																	25966903		2203	4300	6503	-	-	-	SO:0001583	missense	0			AB011138	CCDS32178.1	15q12	2010-04-20	2007-09-19		ENSG00000206190	ENSG00000206190		"""ATPases / P-type"""	13542	protein-coding gene	gene with protein product		605855	"""ATPase, Class V, type 10C"", ""ATPase, Class V, type 10A"""	ATP10C		11015572, 9628581	Standard	NM_024490		Approved	ATPVA, ATPVC, KIAA0566	uc010ayu.3	O60312		ENST00000356865.6:c.1264C>G	15.37:g.25966903G>C	ENSP00000349325:p.Gln422Glu	Somatic		WXS	Illumina GAIIx	Phase_IV	Q4G0S9|Q969I4	Missense_Mutation	SNP	pfam_ATPase_P-typ_ATPase-assoc-dom,pfam_Dehalogen-like_hydro,superfamily_HAD-like_dom,superfamily_ATPase_cation_domN,prints_ATPase_P-typ_ion-transptr,tigrfam_ATPase_P-typ_Plipid-transl,tigrfam_ATPase_P-typ_ion-transptr	p.Q422E	ENST00000356865.6	37	c.1264	CCDS32178.1	15	.	.	.	.	.	.	.	.	.	.	G	12.17	1.856605	0.32791	.	.	ENSG00000206190	ENST00000356865	T	0.06142	3.34	5.53	4.59	0.56863	HAD-like domain (1);ATPase, P-type, cytoplasmic domain N (1);	0.055638	0.64402	D	0.000001	T	0.04452	0.0122	N	0.05351	-0.065	0.50313	D	0.999863	B	0.18166	0.026	B	0.21360	0.034	T	0.46176	-0.9210	10	0.32370	T	0.25	-24.5474	15.2909	0.73865	0.0:0.0:0.8547:0.1453	.	422	O60312	AT10A_HUMAN	E	422	ENSP00000349325:Q422E	ENSP00000349325:Q422E	Q	-	1	0	ATP10A	23517996	1.000000	0.71417	0.990000	0.47175	0.275000	0.26752	5.320000	0.65841	1.276000	0.44395	0.549000	0.68633	CAG	ATP10A	-	superfamily_HAD-like_dom,tigrfam_ATPase_P-typ_Plipid-transl,tigrfam_ATPase_P-typ_ion-transptr	ENSG00000206190		0.428	ATP10A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ATP10A	HGNC	protein_coding	OTTHUMT00000414830.1	40	0.00	0	G	NM_024490		25966903	25966903	-1	no_errors	ENST00000356865	ensembl	human	known	69_37n	missense	72	23.96	23	SNP	1.000	C
CHST2	9435	genome.wustl.edu	37	3	142840438	142840438	+	Silent	SNP	G	G	A			TCGA-E9-A227-01A-11D-A159-09	TCGA-E9-A227-10A-01D-A159-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	15eb25c4-f4a7-446e-b654-ae39ccd2cf00	1f80b7f1-4b76-4815-9cc7-05318f7fa529	g.chr3:142840438G>A	ENST00000309575.3	+	2	2164	c.780G>A	c.(778-780)tcG>tcA	p.S260S		NM_004267.4	NP_004258.2	Q9Y4C5	CHST2_HUMAN	carbohydrate (N-acetylglucosamine-6-O) sulfotransferase 2	260					carbohydrate metabolic process (GO:0005975)|glycosaminoglycan metabolic process (GO:0030203)|inflammatory response (GO:0006954)|keratan sulfate biosynthetic process (GO:0018146)|keratan sulfate metabolic process (GO:0042339)|multicellular organismal development (GO:0007275)|N-acetylglucosamine metabolic process (GO:0006044)|small molecule metabolic process (GO:0044281)|sulfur compound metabolic process (GO:0006790)	Golgi membrane (GO:0000139)|integral component of membrane (GO:0016021)|intrinsic component of Golgi membrane (GO:0031228)|trans-Golgi network (GO:0005802)	N-acetylglucosamine 6-O-sulfotransferase activity (GO:0001517)|sulfotransferase activity (GO:0008146)			breast(1)|central_nervous_system(1)|endometrium(2)|large_intestine(1)|lung(12)|ovary(3)|prostate(2)	22						TGGTGTGCTCGTCACCACTCT	0.667																																						dbGAP											0													20.0	24.0	23.0					3																	142840438		2203	4298	6501	-	-	-	SO:0001819	synonymous_variant	0			BC042160	CCDS3129.1	3q24	2007-03-14			ENSG00000175040	ENSG00000175040		"""Sulfotransferases, membrane-bound"""	1970	protein-coding gene	gene with protein product		603798				10049591	Standard	NM_004267		Approved	C6ST	uc003evm.3	Q9Y4C5	OTTHUMG00000159351	ENST00000309575.3:c.780G>A	3.37:g.142840438G>A		Somatic		WXS	Illumina GAIIx	Phase_IV	D3DNG5|Q2M370|Q9GZN5|Q9UED5|Q9Y6F2	Silent	SNP	pfam_Sulfotransferase_dom,pirsf_Carbohydrate_sulfotransferase	p.S260	ENST00000309575.3	37	c.780	CCDS3129.1	3																																																																																			CHST2	-	pfam_Sulfotransferase_dom,pirsf_Carbohydrate_sulfotransferase	ENSG00000175040		0.667	CHST2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	CHST2	HGNC	protein_coding	OTTHUMT00000354850.1	9	0.00	0	G	NM_004267		142840438	142840438	+1	no_errors	ENST00000309575	ensembl	human	known	69_37n	silent	8	33.33	4	SNP	0.092	A
CLIC3	9022	genome.wustl.edu	37	9	139889217	139889217	+	Silent	SNP	C	C	T			TCGA-E9-A227-01A-11D-A159-09	TCGA-E9-A227-10A-01D-A159-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	15eb25c4-f4a7-446e-b654-ae39ccd2cf00	1f80b7f1-4b76-4815-9cc7-05318f7fa529	g.chr9:139889217C>T	ENST00000494426.1	-	6	886	c.627G>A	c.(625-627)gcG>gcA	p.A209A	CLIC3_ENST00000480181.1_5'UTR	NM_004669.2	NP_004660.2	O95833	CLIC3_HUMAN	chloride intracellular channel 3	209	GST C-terminal.				chloride transmembrane transport (GO:1902476)|chloride transport (GO:0006821)|signal transduction (GO:0007165)	chloride channel complex (GO:0034707)|cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)|nucleus (GO:0005634)	chloride channel activity (GO:0005254)|voltage-gated chloride channel activity (GO:0005247)			lung(1)|skin(1)	2	all_cancers(76;0.11)	Myeloproliferative disorder(178;0.0511)	STAD - Stomach adenocarcinoma(284;0.123)	OV - Ovarian serous cystadenocarcinoma(145;2.94e-05)|Epithelial(140;0.00048)		TCTCCTGCATCGCGCTGTCCA	0.726																																						dbGAP											0													24.0	25.0	25.0					9																	139889217		2182	4286	6468	-	-	-	SO:0001819	synonymous_variant	0			AF102166	CCDS7021.1	9q34.3	2012-09-26			ENSG00000169583	ENSG00000169583		"""Ion channels / Chloride channels : Intracellular"""	2064	protein-coding gene	gene with protein product		606533				9880541	Standard	NM_004669		Approved		uc004ckj.1	O95833	OTTHUMG00000020954	ENST00000494426.1:c.627G>A	9.37:g.139889217C>T		Somatic		WXS	Illumina GAIIx	Phase_IV	Q5SPZ7	Silent	SNP	superfamily_Glutathione-S-Trfase_C-like,superfamily_Thioredoxin-like_fold,prints_Int_Cl_channel	p.A209	ENST00000494426.1	37	c.627	CCDS7021.1	9																																																																																			CLIC3	-	superfamily_Glutathione-S-Trfase_C-like	ENSG00000169583		0.726	CLIC3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	CLIC3	HGNC	protein_coding	OTTHUMT00000055173.2	16	0.00	0	C	NM_004669		139889217	139889217	-1	no_errors	ENST00000494426	ensembl	human	known	69_37n	silent	21	34.38	11	SNP	0.033	T
CRIPAK	285464	genome.wustl.edu	37	4	1388806	1388807	+	Frame_Shift_Ins	INS	-	-	CA	rs537611982		TCGA-E9-A227-01A-11D-A159-09	TCGA-E9-A227-10A-01D-A159-09	-	-					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	15eb25c4-f4a7-446e-b654-ae39ccd2cf00	1f80b7f1-4b76-4815-9cc7-05318f7fa529	g.chr4:1388806_1388807insCA	ENST00000324803.4	+	1	3467_3468	c.507_508insCA	c.(508-510)cacfs	p.H170fs		NM_175918.3	NP_787114.2	Q8N1N5	CRPAK_HUMAN	cysteine-rich PAK1 inhibitor	170					negative regulation of intracellular estrogen receptor signaling pathway (GO:0033147)|negative regulation of protein kinase activity (GO:0006469)|regulation of cytoskeleton organization (GO:0051493)|response to estrogen (GO:0043627)	cytoplasm (GO:0005737)|endoplasmic reticulum (GO:0005783)|nucleus (GO:0005634)|plasma membrane (GO:0005886)				NS(3)|breast(1)|central_nervous_system(1)|endometrium(1)|kidney(2)|large_intestine(2)|lung(11)|ovary(1)|pancreas(2)|prostate(6)|skin(4)|urinary_tract(1)	35			OV - Ovarian serous cystadenocarcinoma(23;0.0106)			GCCCGCCTGCTCACACGTGCCC	0.683																																						dbGAP											0																																										-	-	-	SO:0001589	frameshift_variant	0			AK096209	CCDS3349.1	4p16.3	2011-02-10	2006-09-04		ENSG00000179979	ENSG00000179979			26619	protein-coding gene	gene with protein product		610203	"""cysteine-rich PAK1inhibitor"""			16278681	Standard	NM_175918		Approved	FLJ34443	uc003gdf.2	Q8N1N5	OTTHUMG00000121131	ENST00000324803.4:c.510_511dupCA	4.37:g.1388809_1388810dupCA	ENSP00000323978:p.His170fs	Somatic		WXS	Illumina GAIIx	Phase_IV	Q8NB03	Frame_Shift_Ins	INS	smart_Post-SET_dom	p.C171fs	ENST00000324803.4	37	c.507_508	CCDS3349.1	4																																																																																			CRIPAK	-	smart_Post-SET_dom	ENSG00000179979		0.683	CRIPAK-001	KNOWN	basic|appris_principal|CCDS	protein_coding	CRIPAK	HGNC	protein_coding	OTTHUMT00000241607.2	22	0.00	0	-	NM_175918		1388806	1388807	+1	no_errors	ENST00000324803	ensembl	human	known	69_37n	frame_shift_ins	20	16.67	4	INS	0.000:0.001	CA
CTCF	10664	genome.wustl.edu	37	16	67645934	67645934	+	Missense_Mutation	SNP	C	C	G			TCGA-E9-A227-01A-11D-A159-09	TCGA-E9-A227-10A-01D-A159-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	15eb25c4-f4a7-446e-b654-ae39ccd2cf00	1f80b7f1-4b76-4815-9cc7-05318f7fa529	g.chr16:67645934C>G	ENST00000264010.4	+	4	1306	c.862C>G	c.(862-864)Cac>Gac	p.H288D	AC009095.4_ENST00000388909.4_RNA|CTCF_ENST00000401394.1_Intron	NM_006565.3	NP_006556.1	P49711	CTCF_HUMAN	CCCTC-binding factor (zinc finger protein)	288					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)		CATGAAAAGCCACACTGATGA	0.468																																					Colon(175;1200 1966 6945 23069 27405)	dbGAP											0													148.0	120.0	129.0					16																	67645934		2198	4300	6498	-	-	-	SO:0001583	missense	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.862C>G	16.37:g.67645934C>G	ENSP00000264010:p.His288Asp	Somatic		WXS	Illumina GAIIx	Phase_IV	B5MC38|Q53XI7|Q59EL8	Missense_Mutation	SNP	pfam_Znf_C2H2,smart_Znf_C2H2-like,pfscan_Znf_C2H2	p.H288D	ENST00000264010.4	37	c.862	CCDS10841.1	16	.	.	.	.	.	.	.	.	.	.	C	23.0	4.364365	0.82463	.	.	ENSG00000102974	ENST00000264010	T	0.67698	-0.28	5.08	5.08	0.68730	Zinc finger, C2H2-like (1);Zinc finger, C2H2 (3);Zinc finger, C2H2-type/integrase, DNA-binding (1);	0.000000	0.64402	D	0.000002	D	0.88347	0.6412	H	0.96889	3.9	0.80722	D	1	D	0.62365	0.991	D	0.76071	0.987	D	0.92089	0.5679	10	0.87932	D	0	.	18.6694	0.91506	0.0:1.0:0.0:0.0	.	288	P49711	CTCF_HUMAN	D	288	ENSP00000264010:H288D	ENSP00000264010:H288D	H	+	1	0	CTCF	66203435	1.000000	0.71417	1.000000	0.80357	0.999000	0.98932	7.651000	0.83577	2.641000	0.89580	0.655000	0.94253	CAC	CTCF	-	pfam_Znf_C2H2,smart_Znf_C2H2-like,pfscan_Znf_C2H2	ENSG00000102974		0.468	CTCF-001	KNOWN	basic|appris_principal|CCDS	protein_coding	CTCF	HGNC	protein_coding	OTTHUMT00000268870.2	27	0.00	0	C	NM_006565		67645934	67645934	+1	no_errors	ENST00000264010	ensembl	human	known	69_37n	missense	43	42.67	32	SNP	1.000	G
DNAH2	146754	genome.wustl.edu	37	17	7708590	7708590	+	Missense_Mutation	SNP	G	G	C			TCGA-E9-A227-01A-11D-A159-09	TCGA-E9-A227-10A-01D-A159-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	15eb25c4-f4a7-446e-b654-ae39ccd2cf00	1f80b7f1-4b76-4815-9cc7-05318f7fa529	g.chr17:7708590G>C	ENST00000572933.1	+	61	10781	c.9321G>C	c.(9319-9321)aaG>aaC	p.K3107N	DNAH2_ENST00000389173.2_Missense_Mutation_p.K3107N			Q9P225	DYH2_HUMAN	dynein, axonemal, heavy chain 2	3107	Stalk. {ECO:0000250}.				cilium or flagellum-dependent cell motility (GO:0001539)|metabolic process (GO:0008152)|microtubule-based movement (GO:0007018)	axonemal dynein complex (GO:0005858)|microtubule (GO:0005874)	ATP binding (GO:0005524)|ATPase activity (GO:0016887)|microtubule motor activity (GO:0003777)			NS(3)|breast(11)|central_nervous_system(1)|cervix(3)|endometrium(18)|haematopoietic_and_lymphoid_tissue(2)|kidney(16)|large_intestine(53)|liver(2)|lung(49)|ovary(7)|prostate(7)|skin(15)|upper_aerodigestive_tract(1)|urinary_tract(1)	189		all_cancers(10;4.66e-07)|Prostate(122;0.081)				CTCTGAACAAGAAGGATATAG	0.532																																						dbGAP											0													94.0	96.0	95.0					17																	7708590		2203	4300	6503	-	-	-	SO:0001583	missense	0			U83570, AK128517	CCDS32551.1	17p13.1	2007-10-05	2006-09-04			ENSG00000183914		"""Axonemal dyneins"""	2948	protein-coding gene	gene with protein product		603333	"""dynein, axonemal, heavy polypeptide 2"", ""dynein heavy chain domain 3"""	DNHD3		9256245	Standard	XM_005256470		Approved	KIAA1503, FLJ46675	uc002giu.1	Q9P225		ENST00000572933.1:c.9321G>C	17.37:g.7708590G>C	ENSP00000458355:p.Lys3107Asn	Somatic		WXS	Illumina GAIIx	Phase_IV	A8K992|B5MDX5|O15434|Q6PIH3|Q6ZR42	Missense_Mutation	SNP	pfam_Dynein_heavy,pfam_Dynein_heavy_dom-2,pfam_Dynein_heavy_dom-1,pfam_ATPase_dyneun-rel_AAA,pfam_ATPase_AAA_core,smart_AAA+_ATPase	p.K3107N	ENST00000572933.1	37	c.9321	CCDS32551.1	17	.	.	.	.	.	.	.	.	.	.	G	18.08	3.543559	0.65198	.	.	ENSG00000183914	ENST00000360606;ENST00000389173	T	0.80304	-1.36	5.52	2.43	0.29744	Dynein heavy chain, coiled coil stalk (1);	0.000000	0.85682	D	0.000000	D	0.91112	0.7202	H	0.94808	3.585	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.97110	0.999;1.0	D	0.90451	0.4439	10	0.62326	D	0.03	.	10.523	0.44931	0.2167:0.0:0.7833:0.0	.	3068;3107	Q9P225-2;Q9P225	.;DYH2_HUMAN	N	3068;3107	ENSP00000373825:K3107N	ENSP00000353818:K3068N	K	+	3	2	DNAH2	7649315	1.000000	0.71417	1.000000	0.80357	0.975000	0.68041	3.844000	0.55873	0.292000	0.22492	-0.948000	0.02665	AAG	DNAH2	-	NULL	ENSG00000183914		0.532	DNAH2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	DNAH2	HGNC	protein_coding	OTTHUMT00000440241.1	35	0.00	0	G	NM_020877		7708590	7708590	+1	no_errors	ENST00000389173	ensembl	human	known	69_37n	missense	77	23.76	24	SNP	1.000	C
GPR98	84059	genome.wustl.edu	37	5	89948176	89948176	+	Nonsense_Mutation	SNP	C	C	T			TCGA-E9-A227-01A-11D-A159-09	TCGA-E9-A227-10A-01D-A159-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	15eb25c4-f4a7-446e-b654-ae39ccd2cf00	1f80b7f1-4b76-4815-9cc7-05318f7fa529	g.chr5:89948176C>T	ENST00000405460.2	+	19	3526	c.3430C>T	c.(3430-3432)Cga>Tga	p.R1144*		NM_032119.3	NP_115495.3	Q8WXG9	GPR98_HUMAN	G protein-coupled receptor 98	1144	Calx-beta 9. {ECO:0000305|PubMed:11606593}.				detection of mechanical stimulus involved in sensory perception of sound (GO:0050910)|G-protein coupled receptor signaling pathway (GO:0007186)|inner ear receptor stereocilium organization (GO:0060122)|maintenance of organ identity (GO:0048496)|nervous system development (GO:0007399)|neurological system process (GO:0050877)|neuropeptide signaling pathway (GO:0007218)|photoreceptor cell maintenance (GO:0045494)|sensory perception of light stimulus (GO:0050953)|sensory perception of sound (GO:0007605)|single organismal cell-cell adhesion (GO:0016337)|visual perception (GO:0007601)	cell surface (GO:0009986)|cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|membrane (GO:0016020)|plasma membrane (GO:0005886)|receptor complex (GO:0043235)|stereocilia ankle link complex (GO:0002142)	calcium ion binding (GO:0005509)|G-protein coupled receptor activity (GO:0004930)			NS(4)|breast(7)|central_nervous_system(6)|cervix(1)|endometrium(13)|haematopoietic_and_lymphoid_tissue(3)|kidney(18)|large_intestine(46)|liver(2)|lung(80)|ovary(12)|pancreas(5)|prostate(1)|skin(50)|stomach(7)|upper_aerodigestive_tract(8)|urinary_tract(6)	269		all_cancers(142;1.05e-09)|all_epithelial(76;1.81e-12)|all_lung(232;5.41e-06)|Lung NSC(167;1.72e-05)|Ovarian(174;0.00948)|Colorectal(57;0.133)|Breast(839;0.192)		OV - Ovarian serous cystadenocarcinoma(54;7.01e-30)|Epithelial(54;6.79e-25)|all cancers(79;1.88e-20)		TTTGAGGCACCGAGGATACTT	0.353																																						dbGAP											0													142.0	134.0	136.0					5																	89948176		1894	4130	6024	-	-	-	SO:0001587	stop_gained	0			AB014586	CCDS47246.1	5q13	2014-08-08	2006-05-26	2006-05-26	ENSG00000164199	ENSG00000164199		"""-"", ""GPCR / Class B : Orphans"""	17416	protein-coding gene	gene with protein product		602851	"""monogenic, audiogenic seizure susceptibility 1 homolog (mouse)"""	USH2C, MASS1		10976914, 14740321	Standard	NM_032119		Approved	DKFZp761P0710, KIAA0686, FEB4, VLGR1b	uc003kju.3	Q8WXG9	OTTHUMG00000162668	ENST00000405460.2:c.3430C>T	5.37:g.89948176C>T	ENSP00000384582:p.Arg1144*	Somatic		WXS	Illumina GAIIx	Phase_IV	O75171|Q8TF58|Q9H0X5|Q9UL61	Nonsense_Mutation	SNP	pfam_Calx_beta,pfam_EPTP,pfam_GPCR_2_secretin-like,pfam_GPS_dom,superfamily_ConA-like_lec_gl,superfamily_Gal_Oxase/kelch_b-propeller,smart_Calx_beta,pfscan_EAR,pfscan_GPS_dom,pfscan_GPCR_2-like	p.R1144*	ENST00000405460.2	37	c.3430	CCDS47246.1	5	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	C|C	42|42	9.461299|9.461299	0.99177|0.99177	.|.	.|.	ENSG00000164199|ENSG00000164199	ENST00000504142|ENST00000405460;ENST00000296619;ENST00000399043	.|.	.|.	.|.	6.08|6.08	4.1|4.1	0.47936|0.47936	.|.	.|0.046012	.|0.85682	.|D	.|0.000000	T|.	0.34366|.	0.0895|.	.|.	.|.	.|.	0.80722|0.80722	D|D	1|1	.|.	.|.	.|.	.|.	.|.	.|.	T|.	0.15723|.	-1.0427|.	4|.	.|0.02654	.|T	.|1	.|.	12.4767|12.4767	0.55819|0.55819	0.5614:0.4386:0.0:0.0|0.5614:0.4386:0.0:0.0	.|.	.|.	.|.	.|.	L|X	732|1144	.|.	.|ENSP00000296619:R1144X	P|R	+|+	2|1	0|2	GPR98|GPR98	89983932|89983932	0.990000|0.990000	0.36364|0.36364	1.000000|1.000000	0.80357|0.80357	0.914000|0.914000	0.54420|0.54420	2.507000|2.507000	0.45442|0.45442	1.521000|1.521000	0.48983|0.48983	0.591000|0.591000	0.81541|0.81541	CCG|CGA	GPR98	-	NULL	ENSG00000164199		0.353	GPR98-001	KNOWN	basic|appris_principal|CCDS	protein_coding	GPR98	HGNC	protein_coding	OTTHUMT00000369993.2	59	0.00	0	C	NM_032119		89948176	89948176	+1	no_errors	ENST00000405460	ensembl	human	known	69_37n	nonsense	125	26.47	45	SNP	0.999	T
HERC1	8925	genome.wustl.edu	37	15	64005094	64005094	+	Splice_Site	DEL	C	C	-			TCGA-E9-A227-01A-11D-A159-09	TCGA-E9-A227-10A-01D-A159-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	15eb25c4-f4a7-446e-b654-ae39ccd2cf00	1f80b7f1-4b76-4815-9cc7-05318f7fa529	g.chr15:64005094delC	ENST00000443617.2	-	24	4551	c.4464delG	c.(4462-4464)agg>ag	p.R1488fs	RP11-317G6.1_ENST00000559303.2_RNA	NM_003922.3	NP_003913.3	Q15751	HERC1_HUMAN	HECT and RLD domain containing E3 ubiquitin protein ligase family member 1	1488					cerebellar Purkinje cell differentiation (GO:0021702)|negative regulation of autophagy (GO:0010507)|neuromuscular process controlling balance (GO:0050885)|neuron projection development (GO:0031175)|positive regulation of GTPase activity (GO:0043547)|transport (GO:0006810)	cytoplasm (GO:0005737)|Golgi apparatus (GO:0005794)|membrane (GO:0016020)	ARF guanyl-nucleotide exchange factor activity (GO:0005086)|ligase activity (GO:0016874)|ubiquitin-protein transferase activity (GO:0004842)			NS(3)|breast(9)|central_nervous_system(4)|endometrium(23)|haematopoietic_and_lymphoid_tissue(1)|kidney(12)|large_intestine(22)|liver(1)|lung(36)|ovary(7)|prostate(4)|skin(3)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(2)	132						GACTTTCACTCCTGTCTCACA	0.388																																						dbGAP											0													63.0	56.0	58.0					15																	64005094		1871	4102	5973	-	-	-	SO:0001630	splice_region_variant	0			U50078	CCDS45277.1	15q22	2013-01-10	2012-02-23			ENSG00000103657		"""WD repeat domain containing"""	4867	protein-coding gene	gene with protein product		605109	"""hect (homologous to the E6-AP (UBE3A) carboxyl terminus) domain and RCC1 (CHC1)-like domain (RLD) 1"""			8861955, 9233772	Standard	NM_003922		Approved	p532, p619	uc002amp.3	Q15751		ENST00000443617.2:c.4464-1G>-	15.37:g.64005094delC		Somatic		WXS	Illumina GAIIx	Phase_IV	Q8IW65	Frame_Shift_Del	DEL	pfam_Reg_chr_condens,pfam_HECT,pfam_WD40_repeat,pfam_SPRY_rcpt,superfamily_Reg_csome_cond/b-lactamase_inh,superfamily_HECT,superfamily_WD40_repeat_dom,superfamily_ConA-like_lec_gl,superfamily_UBA-like,superfamily_ARM-type_fold,smart_SPla/RYanodine_receptor_subgr,smart_WD40_repeat,smart_HECT,pfscan_B30.2/SPRY,pfscan_HECT,pfscan_Reg_chr_condens,pfscan_WD40_repeat,pfscan_WD40_repeat_dom,prints_Reg_chr_condens	p.S1489fs	ENST00000443617.2	37	c.4464	CCDS45277.1	15																																																																																			HERC1	-	NULL	ENSG00000103657		0.388	HERC1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	HERC1	HGNC	protein_coding	OTTHUMT00000418523.1	30	0.00	0	C	NM_003922	Frame_Shift_Del	64005094	64005094	-1	no_errors	ENST00000443617	ensembl	human	known	69_37n	frame_shift_del	61	25.30	21	DEL	1.000	-
MAGEC3	139081	genome.wustl.edu	37	X	140983249	140983249	+	Intron	SNP	G	G	A			TCGA-E9-A227-01A-11D-A159-09	TCGA-E9-A227-10A-01D-A159-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	15eb25c4-f4a7-446e-b654-ae39ccd2cf00	1f80b7f1-4b76-4815-9cc7-05318f7fa529	g.chrX:140983249G>A	ENST00000298296.1	+	6	1048				MAGEC3_ENST00000443323.2_Intron|MAGEC3_ENST00000483584.1_Intron|MAGEC3_ENST00000544766.1_Intron|MAGEC3_ENST00000409007.1_5'Flank|MAGEC3_ENST00000448920.1_Silent_p.P120P|MAGEC3_ENST00000536088.1_Intron	NM_138702.1	NP_619647.1	Q8TD91	MAGC3_HUMAN	melanoma antigen family C, 3											NS(2)|breast(3)|central_nervous_system(2)|endometrium(8)|haematopoietic_and_lymphoid_tissue(3)|kidney(2)|large_intestine(6)|liver(1)|lung(32)|ovary(1)|prostate(1)|skin(5)|stomach(1)|urinary_tract(2)	69	Acute lymphoblastic leukemia(192;6.56e-05)					AAGAAGCCCCGGTCTGCCCTG	0.612																																						dbGAP											0													44.0	44.0	44.0					X																	140983249		2202	4300	6502	-	-	-	SO:0001627	intron_variant	0			AF490508	CCDS14676.1, CCDS14677.1	Xq27.2	2009-03-25			ENSG00000165509	ENSG00000165509			23798	protein-coding gene	gene with protein product	"""cancer/testis antigen family 7, member 2"""	300469				10861452	Standard	NM_138702		Approved	HCA2, MAGE-C3, CT7.2	uc011mwp.2	Q8TD91	OTTHUMG00000022570	ENST00000298296.1:c.1049-22G>A	X.37:g.140983249G>A		Somatic		WXS	Illumina GAIIx	Phase_IV	Q3SYA7|Q5JZ43|Q9BZ80	Silent	SNP	NULL	p.P120	ENST00000298296.1	37	c.360	CCDS14676.1	X																																																																																			MAGEC3	-	NULL	ENSG00000165509		0.612	MAGEC3-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	MAGEC3	HGNC	protein_coding	OTTHUMT00000058606.1	21	0.00	0	G	NM_138702		140983249	140983249	+1	no_errors	ENST00000448920	ensembl	human	known	69_37n	silent	31	39.22	20	SNP	0.000	A
MARCH10	162333	genome.wustl.edu	37	17	60865932	60865932	+	Missense_Mutation	SNP	C	C	T			TCGA-E9-A227-01A-11D-A159-09	TCGA-E9-A227-10A-01D-A159-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	15eb25c4-f4a7-446e-b654-ae39ccd2cf00	1f80b7f1-4b76-4815-9cc7-05318f7fa529	g.chr17:60865932C>T	ENST00000311269.5	-	3	393	c.119G>A	c.(118-120)aGa>aAa	p.R40K	MARCH10_ENST00000544856.2_Missense_Mutation_p.R40K|MARCH10_ENST00000583600.1_Missense_Mutation_p.R40K|MARCH10_ENST00000456609.2_Missense_Mutation_p.R40K	NM_152598.2	NP_689811.2	Q8NA82	MARHA_HUMAN	membrane-associated ring finger (C3HC4) 10, E3 ubiquitin protein ligase	40					protein ubiquitination (GO:0016567)		ligase activity (GO:0016874)|zinc ion binding (GO:0008270)			breast(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(11)|liver(1)|lung(15)	38						ATTTGGGTCTCTTCTATATTC	0.423																																						dbGAP											0													134.0	115.0	121.0					17																	60865932		2203	4300	6503	-	-	-	SO:0001583	missense	0			AK093076	CCDS11635.1, CCDS74122.1, CCDS74123.1	17q23.3	2013-01-09	2012-02-23	2007-08-20		ENSG00000173838		"""RING-type (C3HC4) zinc fingers"", ""MARCH membrane-associated ring fingers"""	26655	protein-coding gene	gene with protein product		613337	"""ring finger protein 190"", ""membrane-associated ring finger (C3HC4) 10"""	RNF190		17604280	Standard	XM_005257103		Approved	FLJ35757, MARCH-X	uc002jag.4	Q8NA82		ENST00000311269.5:c.119G>A	17.37:g.60865932C>T	ENSP00000311496:p.Arg40Lys	Somatic		WXS	Illumina GAIIx	Phase_IV	D3DU09|Q8IYS7|Q8N7Z7	Missense_Mutation	SNP	pfam_Znf_C3HC4_RING-type,smart_Znf_RING-CH	p.R40K	ENST00000311269.5	37	c.119	CCDS11635.1	17	.	.	.	.	.	.	.	.	.	.	C	8.315	0.822906	0.16678	.	.	ENSG00000173838	ENST00000456609;ENST00000311269;ENST00000544856	T;T;T	0.20200	2.09;2.09;2.09	4.56	-0.16	0.13375	.	0.482216	0.17721	N	0.164258	T	0.09113	0.0225	N	0.19112	0.55	0.21386	N	0.999703	B;B;B	0.14012	0.005;0.009;0.005	B;B;B	0.16722	0.007;0.016;0.007	T	0.36866	-0.9730	10	0.08837	T	0.75	-2.4492	4.2255	0.10579	0.0:0.4958:0.1692:0.335	.	40;40;40	B3KVK0;G3V1Q5;Q8NA82	.;.;MARHA_HUMAN	K	40	ENSP00000416177:R40K;ENSP00000311496:R40K;ENSP00000443746:R40K	ENSP00000311496:R40K	R	-	2	0	MARCH10	58219664	0.843000	0.29541	0.215000	0.23724	0.357000	0.29423	0.322000	0.19576	-0.071000	0.12886	-0.367000	0.07326	AGA	MARCH10	-	NULL	ENSG00000173838		0.423	MARCH10-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	MARCH10	HGNC	protein_coding	OTTHUMT00000445252.1	55	0.00	0	C	NM_152598		60865932	60865932	-1	no_errors	ENST00000311269	ensembl	human	known	69_37n	missense	104	28.28	41	SNP	0.539	T
MED19	219541	genome.wustl.edu	37	11	57472466	57472467	+	Frame_Shift_Ins	INS	-	-	C			TCGA-E9-A227-01A-11D-A159-09	TCGA-E9-A227-10A-01D-A159-09	-	-					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	15eb25c4-f4a7-446e-b654-ae39ccd2cf00	1f80b7f1-4b76-4815-9cc7-05318f7fa529	g.chr11:57472466_57472467insC	ENST00000431606.2	-	2	481_482	c.452_453insG	c.(451-453)ggcfs	p.G151fs	MED19_ENST00000337672.2_Frame_Shift_Ins_p.G151fs			A0JLT2	MED19_HUMAN	mediator complex subunit 19	151						mediator complex (GO:0016592)|nucleus (GO:0005634)	RNA polymerase II transcription cofactor activity (GO:0001104)			cervix(1)|large_intestine(1)|lung(1)|ovary(2)	5						GGAGGCGGAAGCCGGCCAGCAT	0.54																																						dbGAP											0																																										-	-	-	SO:0001589	frameshift_variant	0			AY148462	CCDS7966.1	11q12.1	2008-02-05	2007-07-30		ENSG00000156603	ENSG00000156603			29600	protein-coding gene	gene with protein product		612385	"""mediator of RNA polymerase II transcription, subunit 19 homolog (S. cerevisiae)"""			9417904	Standard	NM_153450		Approved	LCMR1	uc001nlb.3	A0JLT2	OTTHUMG00000167199	ENST00000431606.2:c.453dupG	11.37:g.57472468_57472468dupC	ENSP00000416227:p.Gly151fs	Somatic		WXS	Illumina GAIIx	Phase_IV	Q8IV02|Q8IZD1	Frame_Shift_Ins	INS	pfam_Mediator_Med19_met,pfam_DNA-dir_RNA_pol1_su_RPA34	p.F152fs	ENST00000431606.2	37	c.453_452		11																																																																																			MED19	-	pfam_Mediator_Med19_met	ENSG00000156603		0.540	MED19-002	KNOWN	basic|appris_principal	protein_coding	MED19	HGNC	protein_coding	OTTHUMT00000393702.1	17	0.00	0	-	NM_153450		57472466	57472467	-1	no_errors	ENST00000431606	ensembl	human	known	69_37n	frame_shift_ins	48	28.36	19	INS	0.999:1.000	C
NOTCH2	4853	genome.wustl.edu	37	1	120458435	120458436	+	Frame_Shift_Ins	INS	-	-	G			TCGA-E9-A227-01A-11D-A159-09	TCGA-E9-A227-10A-01D-A159-09	-	-					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	15eb25c4-f4a7-446e-b654-ae39ccd2cf00	1f80b7f1-4b76-4815-9cc7-05318f7fa529	g.chr1:120458435_120458436insG	ENST00000256646.2	-	34	7128_7129	c.6909_6910insC	c.(6907-6912)cccattfs	p.I2304fs		NM_024408.3	NP_077719.2	Q04721	NOTC2_HUMAN	notch 2	2304					apoptotic process (GO:0006915)|atrial septum morphogenesis (GO:0060413)|bone remodeling (GO:0046849)|cell cycle arrest (GO:0007050)|cell fate determination (GO:0001709)|cell growth (GO:0016049)|ciliary body morphogenesis (GO:0061073)|determination of left/right symmetry (GO:0007368)|embryonic limb morphogenesis (GO:0030326)|gene expression (GO:0010467)|hemopoiesis (GO:0030097)|humoral immune response (GO:0006959)|in utero embryonic development (GO:0001701)|inflammatory response to antigenic stimulus (GO:0002437)|interleukin-4 secretion (GO:0072602)|intracellular receptor signaling pathway (GO:0030522)|morphogenesis of an epithelial sheet (GO:0002011)|multicellular organismal development (GO:0007275)|negative regulation of apoptotic process (GO:0043066)|negative regulation of cell proliferation (GO:0008285)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|nervous system development (GO:0007399)|Notch receptor processing (GO:0007220)|Notch signaling involved in heart development (GO:0061314)|Notch signaling pathway (GO:0007219)|organ morphogenesis (GO:0009887)|placenta blood vessel development (GO:0060674)|positive regulation of apoptotic process (GO:0043065)|positive regulation of BMP signaling pathway (GO:0030513)|positive regulation of cell proliferation (GO:0008284)|positive regulation of Ras protein signal transduction (GO:0046579)|pulmonary valve morphogenesis (GO:0003184)|regulation of transcription, DNA-templated (GO:0006355)|stem cell maintenance (GO:0019827)|transcription initiation from RNA polymerase II promoter (GO:0006367)	cell surface (GO:0009986)|cilium (GO:0005929)|endoplasmic reticulum membrane (GO:0005789)|extracellular region (GO:0005576)|Golgi membrane (GO:0000139)|integral component of plasma membrane (GO:0005887)|membrane (GO:0016020)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|plasma membrane (GO:0005886)|receptor complex (GO:0043235)	calcium ion binding (GO:0005509)|ligand-activated RNA polymerase II transcription factor binding transcription factor activity (GO:0038049)|receptor activity (GO:0004872)			breast(4)|central_nervous_system(6)|cervix(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(9)|kidney(9)|large_intestine(19)|liver(1)|lung(57)|ovary(4)|pancreas(1)|prostate(7)|skin(24)|stomach(2)|upper_aerodigestive_tract(5)|urinary_tract(1)	158	all_neural(166;0.153)	all_lung(203;1.96e-06)|Lung NSC(69;1.47e-05)|all_epithelial(167;0.000809)		Lung(183;0.0242)|LUSC - Lung squamous cell carcinoma(189;0.133)		AAAGTCACAATGGGGGGCAAGG	0.649			"""N, F, Mis"""		"""marginal zone lymphoma, DLBCL"""				Alagille Syndrome																													dbGAP		Dom	yes		1	1p13-p11	4853	Notch homolog 2		L	0																																										-	-	-	SO:0001589	frameshift_variant	0	Familial Cancer Database	ALGS1, ALGS2.Alagille-Watson syndrome	AF315356	CCDS908.1	1p13-p11	2013-01-10	2010-06-24		ENSG00000134250	ENSG00000134250		"""Ankyrin repeat domain containing"""	7882	protein-coding gene	gene with protein product		600275	"""Notch (Drosophila) homolog 2"", ""Notch homolog 2 (Drosophila)"""			7698746	Standard	NM_001200001		Approved		uc001eik.3	Q04721	OTTHUMG00000012177	ENST00000256646.2:c.6910dupC	1.37:g.120458441_120458441dupG	ENSP00000256646:p.Ile2304fs	Somatic		WXS	Illumina GAIIx	Phase_IV	Q5T3X7|Q99734|Q9H240	Frame_Shift_Ins	INS	pirsf_Notch,pfam_EGF-like_dom,pfam_EGF-like_Ca-bd,pfam_Ankyrin_rpt,pfam_Notch_NOD_dom,pfam_DUF3454_notch,pfam_Notch_NODP_dom,pfam_EGF_extracell,superfamily_Ankyrin_rpt-contain_dom,superfamily_Notch_dom,smart_EGF-like,smart_EGF-like_Ca-bd,smart_Notch_dom,smart_Ankyrin_rpt,prints_Notch_2,prints_Notch_dom,pfscan_Ankyrin_rpt,pfscan_Ankyrin_rpt-contain_dom,pfscan_EG-like_dom,pfscan_Notch_dom	p.I2303fs	ENST00000256646.2	37	c.6910_6909	CCDS908.1	1																																																																																			NOTCH2	-	pirsf_Notch,prints_Notch_2	ENSG00000134250		0.649	NOTCH2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NOTCH2	HGNC	protein_coding	OTTHUMT00000033679.1	13	0.00	0	-	NM_024408		120458435	120458436	-1	no_errors	ENST00000256646	ensembl	human	known	69_37n	frame_shift_ins	32	25.58	11	INS	0.997:0.957	G
PIK3CA	5290	genome.wustl.edu	37	3	178952085	178952085	+	Missense_Mutation	SNP	A	A	G	rs121913279		TCGA-E9-A227-01A-11D-A159-09	TCGA-E9-A227-10A-01D-A159-09	A	A					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	15eb25c4-f4a7-446e-b654-ae39ccd2cf00	1f80b7f1-4b76-4815-9cc7-05318f7fa529	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	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.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	26	0.00	0	A			178952085	178952085	+1	no_errors	ENST00000263967	ensembl	human	known	69_37n	missense	57	31.33	26	SNP	1.000	G
PRR14	78994	genome.wustl.edu	37	16	30667597	30667597	+	Missense_Mutation	SNP	G	G	A			TCGA-E9-A227-01A-11D-A159-09	TCGA-E9-A227-10A-01D-A159-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	15eb25c4-f4a7-446e-b654-ae39ccd2cf00	1f80b7f1-4b76-4815-9cc7-05318f7fa529	g.chr16:30667597G>A	ENST00000542965.2	+	11	2179	c.1723G>A	c.(1723-1725)Gaa>Aaa	p.E575K	PRR14_ENST00000300835.4_Missense_Mutation_p.E575K|FBRS_ENST00000356166.6_5'Flank			Q9BWN1	PRR14_HUMAN	proline rich 14	575										breast(3)|endometrium(5)|kidney(1)|large_intestine(3)|lung(5)|skin(1)	18			Colorectal(24;0.103)			CCTGGAGGAAGAAACAGTAGA	0.587																																						dbGAP											0													31.0	37.0	35.0					16																	30667597		2165	4266	6431	-	-	-	SO:0001583	missense	0			AK074783	CCDS10687.1	16p11.2	2008-02-05			ENSG00000156858	ENSG00000156858			28458	protein-coding gene	gene with protein product						12477932	Standard	NM_024031		Approved	MGC3121	uc002dyy.3	Q9BWN1	OTTHUMG00000132414	ENST00000542965.2:c.1723G>A	16.37:g.30667597G>A	ENSP00000441641:p.Glu575Lys	Somatic		WXS	Illumina GAIIx	Phase_IV	Q8WTX2	Missense_Mutation	SNP	NULL	p.E575K	ENST00000542965.2	37	c.1723	CCDS10687.1	16	.	.	.	.	.	.	.	.	.	.	G	13.96	2.393088	0.42410	.	.	ENSG00000156858	ENST00000287463;ENST00000300835;ENST00000542965	T;T	0.53206	0.63;0.63	5.98	3.82	0.43975	.	0.255793	0.37955	N	0.001874	T	0.43188	0.1236	L	0.59436	1.845	0.31246	N	0.694623	B	0.13594	0.008	B	0.17433	0.018	T	0.50154	-0.8861	10	0.72032	D	0.01	-1.9454	9.1898	0.37193	0.084:0.142:0.774:0.0	.	575	Q9BWN1	PRR14_HUMAN	K	548;575;575	ENSP00000300835:E575K;ENSP00000441641:E575K	ENSP00000287463:E548K	E	+	1	0	PRR14	30575098	1.000000	0.71417	0.970000	0.41538	0.019000	0.09904	3.418000	0.52721	0.722000	0.32252	-0.182000	0.12963	GAA	PRR14	-	NULL	ENSG00000156858		0.587	PRR14-007	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	PRR14	HGNC	protein_coding	OTTHUMT00000434433.1	12	0.00	0	G	NM_024031		30667597	30667597	+1	no_errors	ENST00000300835	ensembl	human	known	69_37n	missense	22	24.14	7	SNP	0.991	A
TBC1D4	9882	genome.wustl.edu	37	13	75884201	75884201	+	Missense_Mutation	SNP	C	C	T			TCGA-E9-A227-01A-11D-A159-09	TCGA-E9-A227-10A-01D-A159-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	15eb25c4-f4a7-446e-b654-ae39ccd2cf00	1f80b7f1-4b76-4815-9cc7-05318f7fa529	g.chr13:75884201C>T	ENST00000377636.3	-	14	2816	c.2470G>A	c.(2470-2472)Gag>Aag	p.E824K	TBC1D4_ENST00000425511.1_Missense_Mutation_p.E41K|TBC1D4_ENST00000377625.2_Missense_Mutation_p.E761K|TBC1D4_ENST00000431480.2_Missense_Mutation_p.E816K	NM_014832.2	NP_055647.2	O60343	TBCD4_HUMAN	TBC1 domain family, member 4	824					cellular response to insulin stimulus (GO:0032869)|membrane organization (GO:0061024)|negative regulation of vesicle fusion (GO:0031339)|vesicle-mediated transport (GO:0016192)	cytoplasm (GO:0005737)|cytoplasmic vesicle membrane (GO:0030659)|extracellular vesicular exosome (GO:0070062)	Rab GTPase activator activity (GO:0005097)			breast(1)|central_nervous_system(1)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(3)|large_intestine(12)|lung(18)|ovary(4)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	50		Prostate(6;0.014)|Breast(118;0.0982)		GBM - Glioblastoma multiforme(99;0.0116)		GGGTCATCCTCCCCAGACAGG	0.473																																						dbGAP											0													99.0	89.0	92.0					13																	75884201		1858	4093	5951	-	-	-	SO:0001583	missense	0			AB011175	CCDS41901.1, CCDS66563.1, CCDS66564.1	13q22.2	2013-07-09			ENSG00000136111	ENSG00000136111			19165	protein-coding gene	gene with protein product	"""Akt substrate of 160 kDa"""	612465				11829485, 11994271, 15304337	Standard	XM_005266603		Approved	KIAA0603, AS160, DKFZp779C0666	uc001vjl.1	O60343	OTTHUMG00000017088	ENST00000377636.3:c.2470G>A	13.37:g.75884201C>T	ENSP00000366863:p.Glu824Lys	Somatic		WXS	Illumina GAIIx	Phase_IV	A7E2X8|B4DU25|B4E235|B6ETN8|B6ETN9|Q5W0B9|Q68D14	Missense_Mutation	SNP	pfam_Rab-GTPase-TBC_dom,pfam_DUF3350,pfam_PTyr_interaction_dom,superfamily_Rab-GTPase-TBC_dom,smart_PTyr_interaction_dom,smart_Rab-GTPase-TBC_dom,pfscan_PTyr_interaction_dom,pfscan_Rab-GTPase-TBC_dom	p.E824K	ENST00000377636.3	37	c.2470	CCDS41901.1	13	.	.	.	.	.	.	.	.	.	.	C	15.60	2.881368	0.51801	.	.	ENSG00000136111	ENST00000377636;ENST00000431480;ENST00000377625;ENST00000425511;ENST00000413735	T;T;T;T;T	0.44083	0.93;0.93;0.93;0.93;1.89	5.93	5.93	0.95920	.	0.514786	0.19771	N	0.106434	T	0.44414	0.1292	M	0.62723	1.935	0.37405	D	0.913006	B;B;B;B	0.33841	0.057;0.132;0.099;0.428	B;B;B;B	0.33254	0.036;0.098;0.046;0.16	T	0.43228	-0.9404	10	0.17369	T	0.5	-1.5636	20.3409	0.98764	0.0:1.0:0.0:0.0	.	41;761;816;824	O60343-4;O60343-2;O60343-3;O60343	.;.;.;TBCD4_HUMAN	K	824;816;761;41;273	ENSP00000366863:E824K;ENSP00000395986:E816K;ENSP00000366852:E761K;ENSP00000390654:E41K;ENSP00000396932:E273K	ENSP00000366852:E761K	E	-	1	0	TBC1D4	74782202	0.959000	0.32827	0.049000	0.19019	0.961000	0.63080	4.245000	0.58734	2.814000	0.96858	0.655000	0.94253	GAG	TBC1D4	-	pfam_DUF3350	ENSG00000136111		0.473	TBC1D4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	TBC1D4	HGNC	protein_coding	OTTHUMT00000045283.1	54	0.00	0	C	NM_014832		75884201	75884201	-1	no_errors	ENST00000377636	ensembl	human	known	69_37n	missense	119	25.16	40	SNP	0.832	T
