#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
CD40LG	959	genome.wustl.edu	37	X	135732438	135732438	+	Missense_Mutation	SNP	G	G	A			TCGA-BH-A0BS-01A-11D-A12Q-09	TCGA-BH-A0BS-11A-11D-A12Q-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	81e4b7a4-8d94-4d31-9c08-325ee04f5f36	fec92c99-b092-4b58-add7-e698e2e4161d	g.chrX:135732438G>A	ENST00000370629.2	+	2	226	c.170G>A	c.(169-171)aGg>aAg	p.R57K	CD40LG_ENST00000370628.2_Missense_Mutation_p.R57K	NM_000074.2	NP_000065.1	P29965	CD40L_HUMAN	CD40 ligand	57					B cell differentiation (GO:0030183)|B cell proliferation (GO:0042100)|immunoglobulin secretion (GO:0048305)|inflammatory response (GO:0006954)|isotype switching (GO:0045190)|leukocyte cell-cell adhesion (GO:0007159)|negative regulation of apoptotic process (GO:0043066)|platelet activation (GO:0030168)|positive regulation of endothelial cell apoptotic process (GO:2000353)|positive regulation of interleukin-12 production (GO:0032735)|regulation of immune response (GO:0050776)|regulation of immunoglobulin secretion (GO:0051023)	external side of plasma membrane (GO:0009897)|extracellular space (GO:0005615)|integral component of membrane (GO:0016021)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	CD40 receptor binding (GO:0005174)			endometrium(1)|kidney(1)|large_intestine(8)|lung(14)|skin(1)|stomach(1)	26	Acute lymphoblastic leukemia(192;0.000127)					GAAGATGAAAGGAATCTTCAT	0.363									Immune Deficiency with Hyper-IgM																													dbGAP											0													118.0	121.0	120.0					X																	135732438		2203	4300	6503	-	-	-	SO:0001583	missense	0	Familial Cancer Database	Hypogammaglobulinemia with Hyper-IgM, HIGM type I-V, XLHIGM	X67878	CCDS14659.1	Xq26	2014-09-17	2008-08-01	2005-01-14	ENSG00000102245	ENSG00000102245		"""Tumor necrosis factor (ligand) superfamily"", ""CD molecules"", ""Endogenous ligands"""	11935	protein-coding gene	gene with protein product	"""CD40 antigen ligand"", ""tumor necrosis factor (ligand) superfamily member 5"", ""T-B cell-activating molecule"", ""TNF-related activation protein"", ""hyper-IgM syndrome"""	300386	"""tumor necrosis factor (ligand) superfamily, member 5 (hyper-IgM syndrome)"""	HIGM1, IMD3, TNFSF5		1427881, 7678782	Standard	NM_000074		Approved	CD40L, TRAP, gp39, hCD40L, CD154	uc004faa.3	P29965	OTTHUMG00000022512	ENST00000370629.2:c.170G>A	X.37:g.135732438G>A	ENSP00000359663:p.Arg57Lys	Somatic		WXS	Illumina GAIIx	Phase_IV		Missense_Mutation	SNP	pfam_TNF,superfamily_Tumour_necrosis_fac-like,smart_TNF,pirsf_TNF_ligand_5,pfscan_TNF,prints_TNF_ligand_5	p.R57K	ENST00000370629.2	37	c.170	CCDS14659.1	X	.	.	.	.	.	.	.	.	.	.	G	14.62	2.588766	0.46110	.	.	ENSG00000102245	ENST00000370629;ENST00000370628	T;T	0.74421	-0.84;-0.84	5.72	1.59	0.23543	.	0.549734	0.19054	N	0.123968	T	0.52025	0.1709	N	0.24115	0.695	0.21861	N	0.999505	B;P	0.35174	0.255;0.488	B;B	0.26517	0.054;0.07	T	0.34179	-0.9839	10	0.28530	T	0.3	-1.9679	7.7079	0.28661	0.0:0.15:0.3808:0.4691	.	57;57	Q3L8U2;P29965	.;CD40L_HUMAN	K	57	ENSP00000359663:R57K;ENSP00000359662:R57K	ENSP00000359662:R57K	R	+	2	0	CD40LG	135560104	1.000000	0.71417	1.000000	0.80357	0.991000	0.79684	0.407000	0.21049	0.238000	0.21222	0.600000	0.82982	AGG	CD40LG	-	pirsf_TNF_ligand_5	ENSG00000102245		0.363	CD40LG-001	KNOWN	basic|appris_principal|CCDS	protein_coding	CD40LG	HGNC	protein_coding	OTTHUMT00000058501.1	134	0.00	0	G	NM_000074		135732438	135732438	+1	no_errors	ENST00000370629	ensembl	human	known	69_37n	missense	139	35.35	76	SNP	0.999	A
CKAP2L	150468	genome.wustl.edu	37	2	113509932	113509932	+	Missense_Mutation	SNP	T	T	G			TCGA-BH-A0BS-01A-11D-A12Q-09	TCGA-BH-A0BS-11A-11D-A12Q-09	T	T					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	81e4b7a4-8d94-4d31-9c08-325ee04f5f36	fec92c99-b092-4b58-add7-e698e2e4161d	g.chr2:113509932T>G	ENST00000302450.6	-	5	1592	c.1514A>C	c.(1513-1515)gAa>gCa	p.E505A	CKAP2L_ENST00000541405.1_Missense_Mutation_p.E340A	NM_152515.3	NP_689728.3	Q8IYA6	CKP2L_HUMAN	cytoskeleton associated protein 2-like	505						centrosome (GO:0005813)|cytoplasm (GO:0005737)				breast(1)|cervix(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(4)|lung(15)|skin(1)|upper_aerodigestive_tract(1)	28						CTCTTCTTTTTCAATGCTCTT	0.353																																						dbGAP											0													203.0	202.0	203.0					2																	113509932		2203	4300	6503	-	-	-	SO:0001583	missense	0			AL832036	CCDS2100.1	2q13	2008-02-05			ENSG00000169607	ENSG00000169607			26877	protein-coding gene	gene with protein product						12477932	Standard	NM_152515		Approved	FLJ40629	uc002tie.2	Q8IYA6	OTTHUMG00000131313	ENST00000302450.6:c.1514A>C	2.37:g.113509932T>G	ENSP00000305204:p.Glu505Ala	Somatic		WXS	Illumina GAIIx	Phase_IV	A8K915|B4DZE3|B7ZAC6|F5H0M5|Q53QF8|Q53RS8|Q8N1J8	Missense_Mutation	SNP	NULL	p.E505A	ENST00000302450.6	37	c.1514	CCDS2100.1	2	.	.	.	.	.	.	.	.	.	.	T	16.65	3.181311	0.57800	.	.	ENSG00000169607	ENST00000541405;ENST00000302450	T;T	0.20881	2.04;2.04	5.61	5.61	0.85477	.	0.241975	0.40554	N	0.001071	T	0.24699	0.0599	L	0.31752	0.955	0.40434	D	0.979972	P;D	0.56035	0.93;0.974	P;P	0.50440	0.475;0.641	T	0.02352	-1.1172	10	0.72032	D	0.01	-20.4247	13.7541	0.62926	0.0:0.0:0.0:1.0	.	94;505	Q8IYA6-2;Q8IYA6	.;CKP2L_HUMAN	A	340;505	ENSP00000438763:E340A;ENSP00000305204:E505A	ENSP00000305204:E505A	E	-	2	0	CKAP2L	113226403	0.934000	0.31675	0.997000	0.53966	0.982000	0.71751	3.060000	0.49955	2.139000	0.66308	0.477000	0.44152	GAA	CKAP2L	-	NULL	ENSG00000169607		0.353	CKAP2L-001	KNOWN	basic|appris_principal|CCDS	protein_coding	CKAP2L	HGNC	protein_coding	OTTHUMT00000254082.2	472	0.00	0	T	NM_152515		113509932	113509932	-1	no_errors	ENST00000302450	ensembl	human	known	69_37n	missense	422	36.45	242	SNP	0.999	G
PAK6	56924	genome.wustl.edu	37	15	40557142	40557142	+	Silent	SNP	C	C	T			TCGA-BH-A0BS-01A-11D-A12Q-09	TCGA-BH-A0BS-11A-11D-A12Q-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	81e4b7a4-8d94-4d31-9c08-325ee04f5f36	fec92c99-b092-4b58-add7-e698e2e4161d	g.chr15:40557142C>T	ENST00000542403.2	+	2	267	c.156C>T	c.(154-156)ccC>ccT	p.P52P	PAK6_ENST00000453867.1_Silent_p.P52P|PAK6_ENST00000441369.1_Silent_p.P52P|PAK6_ENST00000560346.1_Silent_p.P52P|RP11-133K1.2_ENST00000558658.1_Missense_Mutation_p.P146L|PAK6_ENST00000455577.2_Silent_p.P52P|PAK6_ENST00000260404.4_Silent_p.P52P	NM_001276717.1	NP_001263646.1	Q9NQU5	PAK6_HUMAN	p21 protein (Cdc42/Rac)-activated kinase 6	52	Linker.				apoptotic process (GO:0006915)|cytoskeleton organization (GO:0007010)|regulation of transcription, DNA-templated (GO:0006355)	cytoplasm (GO:0005737)|nucleus (GO:0005634)	ATP binding (GO:0005524)|protein serine/threonine kinase activity (GO:0004674)			breast(1)|cervix(1)|endometrium(3)|large_intestine(2)|liver(1)|lung(11)|ovary(2)|prostate(1)|skin(2)	24		all_cancers(109;1.13e-18)|all_epithelial(112;1.62e-15)|Lung NSC(122;5.67e-11)|all_lung(180;1.41e-09)|Melanoma(134;0.0574)|Ovarian(310;0.0823)|Colorectal(260;0.117)		GBM - Glioblastoma multiforme(113;1.51e-05)|BRCA - Breast invasive adenocarcinoma(123;0.0544)		GCCCCAAGCCCGTGGTGGACC	0.617																																						dbGAP											0													68.0	65.0	66.0					15																	40557142		2203	4300	6503	-	-	-	SO:0001819	synonymous_variant	0			AF276893	CCDS10054.1, CCDS61590.1	15q14	2008-06-17	2008-06-17		ENSG00000137843	ENSG00000137843			16061	protein-coding gene	gene with protein product		608110	"""p21(CDKN1A)-activated kinase 6"""			11278661	Standard	NM_020168		Approved	PAK5	uc001zlb.3	Q9NQU5	OTTHUMG00000129921	ENST00000542403.2:c.156C>T	15.37:g.40557142C>T		Somatic		WXS	Illumina GAIIx	Phase_IV	A8K2G2|B3KYB0|G5E9R2	Missense_Mutation	SNP	NULL	p.P146L	ENST00000542403.2	37	c.437	CCDS10054.1	15																																																																																			RP11-133K1.2	-	NULL	ENSG00000259288		0.617	PAK6-004	NOVEL	alternative_3_UTR|basic|appris_principal|exp_conf|CCDS	protein_coding	ENSG00000259288	Clone_based_vega_gene	protein_coding	OTTHUMT00000418355.1	45	0.00	0	C			40557142	40557142	+1	no_start_codon	ENST00000558658	ensembl	human	known	69_37n	missense	27	47.06	24	SNP	0.018	T
FBXW9	84261	genome.wustl.edu	37	19	12802058	12802058	+	Missense_Mutation	SNP	C	C	T			TCGA-BH-A0BS-01A-11D-A12Q-09	TCGA-BH-A0BS-11A-11D-A12Q-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	81e4b7a4-8d94-4d31-9c08-325ee04f5f36	fec92c99-b092-4b58-add7-e698e2e4161d	g.chr19:12802058C>T	ENST00000380339.3	-	5	841	c.805G>A	c.(805-807)Gtg>Atg	p.V269M	FBXW9_ENST00000544494.1_Missense_Mutation_p.V7M|FBXW9_ENST00000393261.3_Missense_Mutation_p.V269M|CTD-2659N19.2_ENST00000585742.1_RNA|FBXW9_ENST00000587955.1_Missense_Mutation_p.V259M			Q5XUX1	FBXW9_HUMAN	F-box and WD repeat domain containing 9	269					SCF-dependent proteasomal ubiquitin-dependent protein catabolic process (GO:0031146)					cervix(1)|lung(4)|ovary(1)|prostate(1)	7						AGGCACAGCACGGCTGAGCTG	0.642																																						dbGAP											0													95.0	101.0	99.0					19																	12802058		2101	4239	6340	-	-	-	SO:0001583	missense	0			BC004290	CCDS12278.2	19p13.2	2013-01-09	2007-02-08		ENSG00000132004	ENSG00000132004		"""F-boxes / WD-40 domains"", ""WD repeat domain containing"""	28136	protein-coding gene	gene with protein product		609074	"""F-box and WD-40 domain protein 9"""			12477932	Standard	NM_032301		Approved	MGC10870, Fbw9	uc002mum.1	Q5XUX1	OTTHUMG00000150152	ENST00000380339.3:c.805G>A	19.37:g.12802058C>T	ENSP00000369696:p.Val269Met	Somatic		WXS	Illumina GAIIx	Phase_IV	B3KVP7|Q9BT89	Missense_Mutation	SNP	pfam_WD40_repeat,pfam_F-box_dom_cyclin-like,superfamily_WD40_repeat_dom,superfamily_F-box_dom_cyclin-like,smart_F-box_dom_cyclin-like,smart_WD40_repeat,pfscan_F-box_dom_cyclin-like,pfscan_WD40_repeat,pfscan_WD40_repeat_dom,prints_G-protein_beta_WD-40_rep	p.V269M	ENST00000380339.3	37	c.805		19	.	.	.	.	.	.	.	.	.	.	C	13.84	2.357898	0.41801	.	.	ENSG00000132004	ENST00000544494;ENST00000393261;ENST00000380339	T;T;T	0.73897	-0.79;1.52;1.52	4.66	4.66	0.58398	WD40/YVTN repeat-like-containing domain (1);WD40 repeat-like-containing domain (1);WD40-repeat-containing domain (1);	0.206543	0.40728	N	0.001033	T	0.76278	0.3965	L	0.27053	0.805	0.46564	D	0.999104	D;D;D	0.89917	1.0;1.0;1.0	D;D;D	0.80764	0.987;0.994;0.964	T	0.78142	-0.2319	10	0.87932	D	0	-27.5586	10.1376	0.42717	0.0:0.907:0.0:0.093	.	259;269;269	Q5XUX1-2;Q5XUX1;Q5XUX1-3	.;FBXW9_HUMAN;.	M	7;269;269	ENSP00000442714:V7M;ENSP00000376945:V269M;ENSP00000369696:V269M	ENSP00000369696:V269M	V	-	1	0	FBXW9	12663058	0.999000	0.42202	0.993000	0.49108	0.151000	0.21798	4.413000	0.59795	2.417000	0.82017	0.462000	0.41574	GTG	FBXW9	-	pfam_WD40_repeat,superfamily_WD40_repeat_dom,smart_WD40_repeat,pfscan_WD40_repeat_dom	ENSG00000132004		0.642	FBXW9-201	KNOWN	basic	protein_coding	FBXW9	HGNC	protein_coding		62	0.00	0	C	NM_032301		12802058	12802058	-1	no_errors	ENST00000380339	ensembl	human	known	69_37n	missense	51	43.62	41	SNP	0.993	T
GATA3	2625	genome.wustl.edu	37	10	8111433	8111434	+	Splice_Site	DEL	CA	CA	-	rs111853237		TCGA-BH-A0BS-01A-11D-A12Q-09	TCGA-BH-A0BS-11A-11D-A12Q-09	CA	CA					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	81e4b7a4-8d94-4d31-9c08-325ee04f5f36	fec92c99-b092-4b58-add7-e698e2e4161d	g.chr10:8111433_8111434delCA	ENST00000346208.3	+	5	1376		c.e5-1		GATA3_ENST00000379328.3_Splice_Site|GATA3_ENST00000461472.1_Splice_Site			P23771	GATA3_HUMAN	GATA binding protein 3						anatomical structure formation involved in morphogenesis (GO:0048646)|anatomical structure morphogenesis (GO:0009653)|aortic valve morphogenesis (GO:0003180)|axon guidance (GO:0007411)|blood coagulation (GO:0007596)|canonical Wnt signaling pathway involved in metanephric kidney development (GO:0061290)|cardiac right ventricle morphogenesis (GO:0003215)|cell fate determination (GO:0001709)|cell maturation (GO:0048469)|cellular response to BMP stimulus (GO:0071773)|cellular response to interferon-alpha (GO:0035457)|cellular response to interleukin-4 (GO:0071353)|cellular response to tumor necrosis factor (GO:0071356)|defense response (GO:0006952)|developmental growth (GO:0048589)|ear development (GO:0043583)|embryonic hemopoiesis (GO:0035162)|erythrocyte differentiation (GO:0030218)|humoral immune response (GO:0006959)|in utero embryonic development (GO:0001701)|innate immune response (GO:0045087)|inner ear morphogenesis (GO:0042472)|interferon-gamma secretion (GO:0072643)|interleukin-4 secretion (GO:0072602)|kidney development (GO:0001822)|lens development in camera-type eye (GO:0002088)|lymphocyte migration (GO:0072676)|male gonad development (GO:0008584)|mast cell differentiation (GO:0060374)|mesenchymal to epithelial transition (GO:0060231)|mesonephros development (GO:0001823)|negative regulation of cell cycle (GO:0045786)|negative regulation of cell motility (GO:2000146)|negative regulation of cell proliferation (GO:0008285)|negative regulation of cell proliferation involved in mesonephros development (GO:2000607)|negative regulation of endothelial cell apoptotic process (GO:2000352)|negative regulation of fat cell differentiation (GO:0045599)|negative regulation of fibroblast growth factor receptor signaling pathway involved in ureteric bud formation (GO:2000703)|negative regulation of glial cell-derived neurotrophic factor receptor signaling pathway involved in ureteric bud formation (GO:2000734)|negative regulation of inflammatory response (GO:0050728)|negative regulation of interferon-gamma production (GO:0032689)|negative regulation of interleukin-2 production (GO:0032703)|negative regulation of mammary gland epithelial cell proliferation (GO:0033600)|negative regulation of transcription, DNA-templated (GO:0045892)|nephric duct formation (GO:0072179)|nephric duct morphogenesis (GO:0072178)|neuron migration (GO:0001764)|norepinephrine biosynthetic process (GO:0042421)|otic vesicle development (GO:0071599)|parathyroid gland development (GO:0060017)|parathyroid hormone secretion (GO:0035898)|pharyngeal system development (GO:0060037)|phosphatidylinositol 3-kinase signaling (GO:0014065)|positive regulation of endothelial cell migration (GO:0010595)|positive regulation of interleukin-13 production (GO:0032736)|positive regulation of interleukin-13 secretion (GO:2000667)|positive regulation of interleukin-4 production (GO:0032753)|positive regulation of interleukin-5 production (GO:0032754)|positive regulation of interleukin-5 secretion (GO:2000664)|positive regulation of protein kinase B signaling (GO:0051897)|positive regulation of signal transduction (GO:0009967)|positive regulation of T cell differentiation (GO:0045582)|positive regulation of thyroid hormone generation (GO:2000611)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription regulatory region DNA binding (GO:2000679)|positive regulation of transcription, DNA-templated (GO:0045893)|positive regulation of ureteric bud formation (GO:0072107)|post-embryonic development (GO:0009791)|pro-T cell differentiation (GO:0002572)|regulation of CD4-positive, alpha-beta T cell differentiation (GO:0043370)|regulation of cellular response to X-ray (GO:2000683)|regulation of cytokine biosynthetic process (GO:0042035)|regulation of establishment of cell polarity (GO:2000114)|regulation of histone H3-K27 methylation (GO:0061085)|regulation of histone H3-K4 methylation (GO:0051569)|regulation of nephron tubule epithelial cell differentiation (GO:0072182)|regulation of neuron apoptotic process (GO:0043523)|regulation of neuron projection development (GO:0010975)|response to drug (GO:0042493)|response to estrogen (GO:0043627)|response to ethanol (GO:0045471)|response to gamma radiation (GO:0010332)|response to virus (GO:0009615)|signal transduction (GO:0007165)|sympathetic nervous system development (GO:0048485)|T cell receptor signaling pathway (GO:0050852)|T-helper 2 cell differentiation (GO:0045064)|thymic T cell selection (GO:0045061)|thymus development (GO:0048538)|TOR signaling (GO:0031929)|transcription from RNA polymerase II promoter (GO:0006366)|type IV hypersensitivity (GO:0001806)|ureter maturation (GO:0035799)|ureteric bud formation (GO:0060676)|uterus development (GO:0060065)|ventricular septum development (GO:0003281)	nuclear chromatin (GO:0000790)|nucleolus (GO:0005730)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	core promoter proximal region sequence-specific DNA binding (GO:0000987)|core promoter sequence-specific DNA binding (GO:0001046)|DNA binding (GO:0003677)|E-box binding (GO:0070888)|enhancer sequence-specific DNA binding (GO:0001158)|HMG box domain binding (GO:0071837)|nucleic acid binding transcription factor activity (GO:0001071)|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 core promoter proximal region sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription (GO:0001077)|RNA polymerase II core promoter sequence-specific DNA binding (GO:0000979)|sequence-specific DNA binding transcription factor activity (GO:0003700)|transcription coactivator activity (GO:0003713)|transcription factor binding (GO:0008134)|transcription regulatory region DNA binding (GO:0044212)|transcription regulatory region sequence-specific DNA binding (GO:0000976)|zinc ion binding (GO:0008270)	p.?(7)		NS(1)|breast(44)|central_nervous_system(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(6)|lung(24)|ovary(3)|skin(2)	87						TCCCCACTCTCAGTCTGCAGCC	0.48			"""F, N, S"""		breast		"""HDR syndrome (HYPOPARATHYROIDISM, SENSORINEURAL DEAFNESS, AND RENAL DISEASE)"""																															dbGAP		Rec	yes		10	10p15	2625	GATA binding protein 3	yes	E	7	Unknown(7)	breast(7)																																								-	-	-	SO:0001630	splice_region_variant	0			X55122	CCDS7083.1, CCDS31143.1	10p15	2013-01-25	2001-11-28		ENSG00000107485	ENSG00000107485		"""GATA zinc finger domain containing"""	4172	protein-coding gene	gene with protein product		131320	"""GATA-binding protein 3"""			2050118, 15087456	Standard	NM_002051		Approved	HDR	uc001ijz.3	P23771	OTTHUMG00000017640	ENST00000346208.3:c.922-1CA>-	10.37:g.8111433_8111434delCA		Somatic		WXS	Illumina GAIIx	Phase_IV	Q5VWG7|Q5VWG8|Q96J16	Splice_Site	DEL	-	e4-2	ENST00000346208.3	37	c.925-3_925-2	CCDS7083.1	10																																																																																			GATA3	-	-	ENSG00000107485		0.480	GATA3-002	KNOWN	basic|appris_candidate|CCDS	protein_coding	GATA3	HGNC	protein_coding	OTTHUMT00000046719.1	75	0	0	CA	NM_001002295	Intron	8111433	8111434	+1	no_errors	ENST00000379328	ensembl	human	known	69_37n	splice_site_del	101	35.03	55	DEL	1.000:1.000	-
HLA-DQB1	3119	genome.wustl.edu	37	6	32634373	32634373	+	Silent	SNP	C	C	T	rs9274522	byFrequency	TCGA-BH-A0BS-01A-11D-A12Q-09	TCGA-BH-A0BS-11A-11D-A12Q-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	81e4b7a4-8d94-4d31-9c08-325ee04f5f36	fec92c99-b092-4b58-add7-e698e2e4161d	g.chr6:32634373C>T	ENST00000399082.3	-	1	56	c.12G>A	c.(10-12)aaG>aaA	p.K4K	HLA-DQB1_ENST00000434651.2_Silent_p.K4K|HLA-DQB1_ENST00000399084.1_Silent_p.K4K|HLA-DQB1_ENST00000374943.4_Silent_p.K4K|HLA-DQB1_ENST00000399079.3_Silent_p.K4K			P01920	DQB1_HUMAN	major histocompatibility complex, class II, DQ beta 1	4					antigen processing and presentation of exogenous peptide antigen via MHC class II (GO:0019886)|cytokine-mediated signaling pathway (GO:0019221)|humoral immune response mediated by circulating immunoglobulin (GO:0002455)|immune response (GO:0006955)|immunoglobulin production involved in immunoglobulin mediated immune response (GO:0002381)|interferon-gamma-mediated signaling pathway (GO:0060333)|T cell costimulation (GO:0031295)|T cell receptor signaling pathway (GO:0050852)	clathrin-coated endocytic vesicle membrane (GO:0030669)|endocytic vesicle membrane (GO:0030666)|endosome (GO:0005768)|ER to Golgi transport vesicle membrane (GO:0012507)|Golgi membrane (GO:0000139)|integral component of lumenal side of endoplasmic reticulum membrane (GO:0071556)|lysosomal membrane (GO:0005765)|membrane (GO:0016020)|MHC class II protein complex (GO:0042613)|plasma membrane (GO:0005886)|trans-Golgi network membrane (GO:0032588)|transport vesicle membrane (GO:0030658)	MHC class II receptor activity (GO:0032395)|peptide antigen binding (GO:0042605)			breast(1)|large_intestine(1)|lung(1)|pancreas(1)	4					"""""""Insulin(DB00071)"""	GCAAAGCCTTCTTCCAAGACA	0.532									T-cell Lymphoma, (Cutaneous) , Familial Clustering of;Sjgren syndrome;Melanoma, Familial Clustering of;ACTH-independent macronodular adrenal hyperplasia				c|||	1621	0.323682	0.3722	0.3458	5008	,	,		14244	0.2381		0.3608	False		,,,				2504	0.2924				Esophageal Squamous(151;720 1825 15000 40336 43415)	dbGAP											0													39.0	38.0	38.0					6																	32634373		1927	4107	6034	-	-	-	SO:0001819	synonymous_variant	0	Familial Cancer Database	incl.: Mycosis Fungoides, Sezary syndrome, Adult T-cell Lymphoma;Sjogren syndrome; ;AIMAH, Cushing disease, Adrenal, Familial		CCDS43451.1, CCDS59006.1	6p21.3	2013-01-11			ENSG00000179344	ENSG00000179344		"""Histocompatibility complex"", ""Immunoglobulin superfamily / C1-set domain containing"""	4944	protein-coding gene	gene with protein product		604305		HLA-DQB			Standard	NM_001243962		Approved	IDDM1, CELIAC1	uc031snw.1	P01920	OTTHUMG00000031124	ENST00000399082.3:c.12G>A	6.37:g.32634373C>T		Somatic		WXS	Illumina GAIIx	Phase_IV	A1KR27|A2RPH3|A4Q9R4|A4USG2|A4USG5|A6N8I7|A9YQA0|B0S7Y7|B1A0K6|B1GXI3|B3VLT3|B5BLN7|B7VU69|C0MQ34|C0MQ35|C8ZL52|C8ZLJ8|C8ZLJ9|C9DRQ3|O19708|O19713|O19724|O62861|O78046|O78221|O78223|O98034|O98201|P01917|P01918|P01919|P03992|P05537|P79482|P79526|P79544|P79551|Q08GC8|Q09035|Q0E4V9|Q1M312|Q29731|Q29877|Q29884|Q29915|Q29966|Q2P9N3|Q2QK85|Q30061|Q30075|Q30076|Q30080|Q30081|Q30082|Q30083|Q30084|Q30089|Q30095|Q31633|Q38I47|Q45UE3|Q4QZB5|Q53I44|Q564J6|Q5G841|Q5ISH1|Q5ISH3|Q5W1E1|Q5Y7G8|Q643R4|Q6B9X1|Q70VH8|Q7YP69|Q8HWH0|Q8MH58|Q8SNB4|Q8SND1|Q8SP70|Q8WMA3|Q9BD17|Q9MYH2|Q9TPA9|Q9XRY6|Q9XRY7|Q9XRZ2	Silent	SNP	pfam_MHC_II_b_N,pfam_Ig_C1-set,superfamily_MHC_I/II-like_Ag-recog,smart_MHC_II_b_N,smart_Ig_C1-set,pfscan_Ig-like	p.K4	ENST00000399082.3	37	c.12		6																																																																																			HLA-DQB1	-	NULL	ENSG00000179344		0.532	HLA-DQB1-007	NOVEL	basic|exp_conf	protein_coding	HLA-DQB1	HGNC	protein_coding	OTTHUMT00000276131.1	32	0.00	0	C	NM_002123		32634373	32634373	-1	no_errors	ENST00000374943	ensembl	human	known	69_37n	silent	49	16.95	10	SNP	0.001	T
PDCD6IP	10015	genome.wustl.edu	37	3	33896710	33896711	+	Frame_Shift_Del	DEL	AT	AT	-			TCGA-BH-A0BS-01A-11D-A12Q-09	TCGA-BH-A0BS-11A-11D-A12Q-09	AT	AT					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	81e4b7a4-8d94-4d31-9c08-325ee04f5f36	fec92c99-b092-4b58-add7-e698e2e4161d	g.chr3:33896710_33896711delAT	ENST00000307296.3	+	15	2455_2456	c.2078_2079delAT	c.(2077-2079)gatfs	p.D693fs	PDCD6IP_ENST00000457054.2_Frame_Shift_Del_p.D698fs			Q8WUM4	PDC6I_HUMAN	programmed cell death 6 interacting protein	693	Interaction with EIAV p9.|Self-association.				apoptotic process (GO:0006915)|cell cycle (GO:0007049)|cell division (GO:0051301)|protein transport (GO:0015031)|viral life cycle (GO:0019058)|viral process (GO:0016032)	cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|focal adhesion (GO:0005925)|immunological synapse (GO:0001772)|membrane (GO:0016020)|vesicle (GO:0031982)	calcium-dependent protein binding (GO:0048306)|protein homodimerization activity (GO:0042803)			central_nervous_system(3)|endometrium(1)|kidney(2)|large_intestine(7)|lung(6)|ovary(2)|skin(1)|stomach(1)	23						AAATGCAGTGATATAGTTTTTG	0.302																																						dbGAP											0																																										-	-	-	SO:0001589	frameshift_variant	0			BC020066	CCDS2660.1, CCDS54561.1	3p22.3	2012-08-30	2001-11-29		ENSG00000170248	ENSG00000170248			8766	protein-coding gene	gene with protein product	"""ALG-2 interacting protein X"""	608074	"""programmed cell death 6-interacting protein"""			9880530	Standard	NM_001162429		Approved	Alix, AIP1, Hp95	uc003cfy.4	Q8WUM4	OTTHUMG00000130751	ENST00000307296.3:c.2078_2079delAT	3.37:g.33896712_33896713delAT	ENSP00000307387:p.Asp693fs	Somatic		WXS	Illumina GAIIx	Phase_IV	C5MQH7|E9PFU1|Q6NUS1|Q9BX86|Q9NUN0|Q9P2H2|Q9UKL5	Frame_Shift_Del	DEL	pfam_BRO1_dom,pfscan_BRO1_dom	p.I699fs	ENST00000307296.3	37	c.2093_2094	CCDS2660.1	3																																																																																			PDCD6IP	-	NULL	ENSG00000170248		0.302	PDCD6IP-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	PDCD6IP	HGNC	protein_coding	OTTHUMT00000253251.2	318	0.00	0	AT			33896710	33896711	+1	no_errors	ENST00000457054	ensembl	human	known	69_37n	frame_shift_del	373	28.01	149	DEL	1.000:1.000	-
PPP1CC	5501	genome.wustl.edu	37	12	111160057	111160057	+	Silent	SNP	A	A	G			TCGA-BH-A0BS-01A-11D-A12Q-09	TCGA-BH-A0BS-11A-11D-A12Q-09	A	A					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	81e4b7a4-8d94-4d31-9c08-325ee04f5f36	fec92c99-b092-4b58-add7-e698e2e4161d	g.chr12:111160057A>G	ENST00000335007.5	-	6	955	c.765T>C	c.(763-765)taT>taC	p.Y255Y	PPP1CC_ENST00000551676.1_3'UTR|PPP1CC_ENST00000546933.1_Silent_p.Y264Y|PPP1CC_ENST00000550991.1_Silent_p.Y255Y|PPP1CC_ENST00000340766.5_Silent_p.Y255Y	NM_002710.3	NP_002701.1	P36873	PP1G_HUMAN	protein phosphatase 1, catalytic subunit, gamma isozyme	255					cell division (GO:0051301)|circadian regulation of gene expression (GO:0032922)|entrainment of circadian clock by photoperiod (GO:0043153)|glycogen metabolic process (GO:0005977)|mitotic cell cycle (GO:0000278)|negative regulation of transforming growth factor beta receptor signaling pathway (GO:0030512)|neuron differentiation (GO:0030182)|protein dephosphorylation (GO:0006470)|regulation of circadian rhythm (GO:0042752)|small molecule metabolic process (GO:0044281)|transforming growth factor beta receptor signaling pathway (GO:0007179)|triglyceride catabolic process (GO:0019433)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|dendritic spine (GO:0043197)|focal adhesion (GO:0005925)|kinetochore (GO:0000776)|mitochondrion (GO:0005739)|MLL5-L complex (GO:0070688)|nucleolus (GO:0005730)|nucleus (GO:0005634)|protein complex (GO:0043234)|PTW/PP1 phosphatase complex (GO:0072357)	metal ion binding (GO:0046872)|phosphatase activity (GO:0016791)|phosphoprotein phosphatase activity (GO:0004721)|poly(A) RNA binding (GO:0044822)|protein kinase binding (GO:0019901)|protein N-terminus binding (GO:0047485)|protein serine/threonine phosphatase activity (GO:0004722)			central_nervous_system(1)|large_intestine(2)|lung(3)	6						CAAAAAATTCATATCCATCTT	0.388																																						dbGAP											0													76.0	74.0	75.0					12																	111160057		2203	4300	6503	-	-	-	SO:0001819	synonymous_variant	0				CCDS9150.1, CCDS58279.1	12q24.1-q24.2	2013-01-17	2010-03-05		ENSG00000186298	ENSG00000186298	3.1.3.16	"""Serine/threonine phosphatases / Protein phosphatase, catalytic subunits"""	9283	protein-coding gene	gene with protein product		176914	"""protein phosphatase 1, catalytic subunit, gamma isoform"""				Standard	NM_002710		Approved	PP1C, PP1gamma	uc021rdx.1	P36873	OTTHUMG00000169531	ENST00000335007.5:c.765T>C	12.37:g.111160057A>G		Somatic		WXS	Illumina GAIIx	Phase_IV		Silent	SNP	pfam_Metallo_PEstase_dom,smart_Ser/Thr-sp_prot-phosphatase,prints_Ser/Thr-sp_prot-phosphatase	p.Y255	ENST00000335007.5	37	c.765	CCDS9150.1	12																																																																																			PPP1CC	-	smart_Ser/Thr-sp_prot-phosphatase,prints_Ser/Thr-sp_prot-phosphatase	ENSG00000186298		0.388	PPP1CC-001	KNOWN	basic|appris_principal|CCDS	protein_coding	PPP1CC	HGNC	protein_coding	OTTHUMT00000404659.1	154	0.00	0	A			111160057	111160057	-1	no_errors	ENST00000340766	ensembl	human	known	69_37n	silent	161	33.20	80	SNP	1.000	G
RAB5C	5878	genome.wustl.edu	37	17	40280336	40280336	+	Silent	SNP	G	G	A			TCGA-BH-A0BS-01A-11D-A12Q-09	TCGA-BH-A0BS-11A-11D-A12Q-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	81e4b7a4-8d94-4d31-9c08-325ee04f5f36	fec92c99-b092-4b58-add7-e698e2e4161d	g.chr17:40280336G>A	ENST00000346213.4	-	4	596	c.384C>T	c.(382-384)gtC>gtT	p.V128V	RAB5C_ENST00000393860.3_Silent_p.V128V|CTD-2132N18.3_ENST00000592574.1_Silent_p.V128V|RAB5C_ENST00000547517.1_Silent_p.V161V	NM_004583.3	NP_004574.2	P51148	RAB5C_HUMAN	RAB5C, member RAS oncogene family	128					endosome organization (GO:0007032)|GTP catabolic process (GO:0006184)|plasma membrane to endosome transport (GO:0048227)|protein transport (GO:0015031)|regulation of endocytosis (GO:0030100)|small GTPase mediated signal transduction (GO:0007264)	endocytic vesicle (GO:0030139)|endosome (GO:0005768)|extracellular vesicular exosome (GO:0070062)|intracellular membrane-bounded organelle (GO:0043231)|lipid particle (GO:0005811)|lysosomal membrane (GO:0005765)|plasma membrane (GO:0005886)	GDP binding (GO:0019003)|GTP binding (GO:0005525)|GTPase activity (GO:0003924)			large_intestine(1)|lung(4)|prostate(1)|skin(1)	7		all_cancers(22;1.24e-06)|all_epithelial(22;4.33e-05)|Breast(137;0.000143)		BRCA - Breast invasive adenocarcinoma(366;0.128)		CGAGTGCAATGACGATGTTGG	0.572																																						dbGAP											0													142.0	116.0	125.0					17																	40280336		2203	4300	6503	-	-	-	SO:0001819	synonymous_variant	0			U18420	CCDS11419.1, CCDS58551.1	17q21.2	2013-02-15			ENSG00000108774	ENSG00000108774		"""RAB, member RAS oncogene"""	9785	protein-coding gene	gene with protein product	"""RAB, member of RAS oncogene family-like"", ""RAB5C, member of RAS oncogene family"""	604037		RABL		8646882	Standard	NM_004583		Approved	RAB5CL	uc010cxx.3	P51148	OTTHUMG00000169703	ENST00000346213.4:c.384C>T	17.37:g.40280336G>A		Somatic		WXS	Illumina GAIIx	Phase_IV	F8W1H5|Q6FH55|Q9P0Y5	Silent	SNP	pfam_Small_GTPase,pfam_MIRO-like,pfam_Small_GTPase_ARF/SAR,pfam_Gtr1_RagA,pfam_ProtSyn_GTP-bd,smart_Small_GTPase_Ras,smart_Small_GTPase_Rab_type,smart_Small_GTPase_Rho,smart_Ran_GTPase,prints_Small_GTPase,tigrfam_Small_GTP-bd_dom	p.V128	ENST00000346213.4	37	c.384	CCDS11419.1	17																																																																																			RAB5C	-	pfam_Small_GTPase,pfam_MIRO-like,pfam_Small_GTPase_ARF/SAR,pfam_Gtr1_RagA,pfam_ProtSyn_GTP-bd,smart_Small_GTPase_Ras,smart_Small_GTPase_Rab_type,smart_Small_GTPase_Rho,smart_Ran_GTPase,prints_Small_GTPase,tigrfam_Small_GTP-bd_dom	ENSG00000108774		0.572	RAB5C-001	KNOWN	basic|appris_principal|CCDS	protein_coding	RAB5C	HGNC	protein_coding	OTTHUMT00000405509.1	108	0.00	0	G	NM_004583		40280336	40280336	-1	no_errors	ENST00000346213	ensembl	human	known	69_37n	silent	77	39.37	50	SNP	1.000	A
RNF6	6049	genome.wustl.edu	37	13	26793710	26793710	+	Missense_Mutation	SNP	T	T	C			TCGA-BH-A0BS-01A-11D-A12Q-09	TCGA-BH-A0BS-11A-11D-A12Q-09	T	T					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	81e4b7a4-8d94-4d31-9c08-325ee04f5f36	fec92c99-b092-4b58-add7-e698e2e4161d	g.chr13:26793710T>C	ENST00000381588.4	-	3	829	c.77A>G	c.(76-78)gAg>gGg	p.E26G	RNF6_ENST00000468480.1_5'UTR|RNF6_ENST00000346166.3_Missense_Mutation_p.E26G|RNF6_ENST00000381570.3_Missense_Mutation_p.E26G|RNF6_ENST00000399762.2_5'UTR	NM_005977.3	NP_005968.1	Q9Y252	RNF6_HUMAN	ring finger protein (C3H2C3 type) 6	26					negative regulation of axon extension (GO:0030517)|positive regulation of transcription, DNA-templated (GO:0045893)|protein K27-linked ubiquitination (GO:0044314)|protein K48-linked ubiquitination (GO:0070936)|protein K6-linked ubiquitination (GO:0085020)|regulation of androgen receptor signaling pathway (GO:0060765)|regulation of transcription, DNA-templated (GO:0006355)|ubiquitin-dependent protein catabolic process (GO:0006511)	axon (GO:0030424)|cytoplasm (GO:0005737)|intracellular membrane-bounded organelle (GO:0043231)|nuclear membrane (GO:0031965)|nucleus (GO:0005634)|PML body (GO:0016605)	androgen receptor binding (GO:0050681)|DNA binding (GO:0003677)|ligase activity (GO:0016874)|ubiquitin-protein transferase activity (GO:0004842)|zinc ion binding (GO:0008270)			breast(2)|endometrium(2)|kidney(1)|large_intestine(9)|lung(3)|ovary(2)|prostate(2)|skin(2)	23	Colorectal(5;0.000442)	Lung SC(185;0.0156)|Breast(139;0.147)		all cancers(112;0.00893)|Epithelial(112;0.0481)|OV - Ovarian serous cystadenocarcinoma(117;0.148)|GBM - Glioblastoma multiforme(144;0.23)|Lung(94;0.245)		CCATCTTCTCTCATTTTCATG	0.408																																						dbGAP											0													209.0	199.0	202.0					13																	26793710		2203	4300	6503	-	-	-	SO:0001583	missense	0			AJ010346	CCDS9316.1	13q12.2	2013-01-09			ENSG00000127870	ENSG00000127870		"""RING-type (C3HC4) zinc fingers"""	10069	protein-coding gene	gene with protein product	"""RING-H2 protein RNF-6"""	604242				10331950	Standard	NM_005977		Approved	DKFZp686P0776	uc001uqq.3	Q9Y252	OTTHUMG00000016614	ENST00000381588.4:c.77A>G	13.37:g.26793710T>C	ENSP00000371000:p.Glu26Gly	Somatic		WXS	Illumina GAIIx	Phase_IV	B4DDP0|Q5W0H0|Q9BZP5|Q9UF41	Missense_Mutation	SNP	pfam_Znf_C3HC4_RING-type,smart_Znf_RING,pfscan_Znf_RING	p.E26G	ENST00000381588.4	37	c.77	CCDS9316.1	13	.	.	.	.	.	.	.	.	.	.	T	15.01	2.705407	0.48412	.	.	ENSG00000127870	ENST00000346166;ENST00000381588;ENST00000381570	T;T;T	0.08193	3.12;3.12;3.12	5.08	3.91	0.45181	.	0.058764	0.64402	N	0.000003	T	0.08313	0.0207	L	0.39397	1.21	0.80722	D	1	B;B	0.25390	0.125;0.011	B;B	0.24848	0.056;0.016	T	0.11941	-1.0567	10	0.87932	D	0	-10.9291	9.3126	0.37915	0.0:0.0811:0.0:0.9189	.	26;26	Q9Y252;Q9BZP5	RNF6_HUMAN;.	G	26	ENSP00000342121:E26G;ENSP00000371000:E26G;ENSP00000370982:E26G	ENSP00000342121:E26G	E	-	2	0	RNF6	25691710	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	4.152000	0.58111	0.968000	0.38212	0.533000	0.62120	GAG	RNF6	-	NULL	ENSG00000127870		0.408	RNF6-006	KNOWN	basic|appris_principal|CCDS	protein_coding	RNF6	HGNC	protein_coding	OTTHUMT00000044246.2	304	0.00	0	T	NM_005977		26793710	26793710	-1	no_errors	ENST00000346166	ensembl	human	known	69_37n	missense	302	38.74	191	SNP	1.000	C
RTN4IP1	84816	genome.wustl.edu	37	6	107070840	107070840	+	Silent	SNP	A	A	G			TCGA-BH-A0BS-01A-11D-A12Q-09	TCGA-BH-A0BS-11A-11D-A12Q-09	A	A					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	81e4b7a4-8d94-4d31-9c08-325ee04f5f36	fec92c99-b092-4b58-add7-e698e2e4161d	g.chr6:107070840A>G	ENST00000369063.3	-	2	744	c.279T>C	c.(277-279)ggT>ggC	p.G93G	RTN4IP1_ENST00000539449.1_Silent_p.G93G	NM_032730.4	NP_116119.2	Q8WWV3	RT4I1_HUMAN	reticulon 4 interacting protein 1	93						mitochondrion (GO:0005739)	oxidoreductase activity (GO:0016491)|zinc ion binding (GO:0008270)			breast(1)|kidney(3)|large_intestine(2)|lung(6)|urinary_tract(1)	13	Breast(9;0.0107)|all_epithelial(6;0.14)	all_cancers(87;9.45e-05)|Acute lymphoblastic leukemia(125;2.13e-07)|all_hematologic(75;5.28e-06)|all_epithelial(87;0.0144)	Epithelial(6;0.000873)|all cancers(7;0.00363)|BRCA - Breast invasive adenocarcinoma(8;0.00721)|OV - Ovarian serous cystadenocarcinoma(5;0.0394)	all cancers(137;0.113)|BRCA - Breast invasive adenocarcinoma(108;0.127)|Epithelial(106;0.144)		TAGCTCCATAACCACCTGTAA	0.383																																						dbGAP											0													75.0	74.0	75.0					6																	107070840		2203	4300	6503	-	-	-	SO:0001819	synonymous_variant	0			AF336861	CCDS5056.1	6q21	2008-02-05			ENSG00000130347	ENSG00000130347			18647	protein-coding gene	gene with protein product		610502					Standard	NM_032730		Approved	NIMP	uc003prj.3	Q8WWV3	OTTHUMG00000015304	ENST00000369063.3:c.279T>C	6.37:g.107070840A>G		Somatic		WXS	Illumina GAIIx	Phase_IV	Q8N9B3|Q8WZ66|Q9BRA4	Silent	SNP	pfam_ADH_C,pfam_ADH_GroES-like,superfamily_GroES-like,smart_PKS_ER	p.G93	ENST00000369063.3	37	c.279	CCDS5056.1	6																																																																																			RTN4IP1	-	pfam_ADH_GroES-like,superfamily_GroES-like,smart_PKS_ER	ENSG00000130347		0.383	RTN4IP1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	RTN4IP1	HGNC	protein_coding	OTTHUMT00000041673.1	97	0.00	0	A			107070840	107070840	-1	no_errors	ENST00000369063	ensembl	human	known	69_37n	silent	102	39.29	66	SNP	0.634	G
SERPINA5	5104	genome.wustl.edu	37	14	95058404	95058404	+	Missense_Mutation	SNP	A	A	T			TCGA-BH-A0BS-01A-11D-A12Q-09	TCGA-BH-A0BS-11A-11D-A12Q-09	A	A					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	81e4b7a4-8d94-4d31-9c08-325ee04f5f36	fec92c99-b092-4b58-add7-e698e2e4161d	g.chr14:95058404A>T	ENST00000554866.1	+	5	1163	c.1049A>T	c.(1048-1050)aAa>aTa	p.K350I	SERPINA5_ENST00000554276.1_Missense_Mutation_p.K350I|RP11-986E7.7_ENST00000553947.1_Nonsense_Mutation_p.K4*|SERPINA5_ENST00000329597.7_Missense_Mutation_p.K350I|SERPINA5_ENST00000553780.1_Missense_Mutation_p.K350I			P05154	IPSP_HUMAN	serpin peptidase inhibitor, clade A (alpha-1 antiproteinase, antitrypsin), member 5	350					fusion of sperm to egg plasma membrane (GO:0007342)|lipid transport (GO:0006869)|negative regulation of endopeptidase activity (GO:0010951)|negative regulation of proteolysis (GO:0045861)|regulation of proteolysis (GO:0030162)|spermatogenesis (GO:0007283)	acrosomal membrane (GO:0002080)|external side of plasma membrane (GO:0009897)|extracellular region (GO:0005576)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|membrane (GO:0016020)|platelet alpha granule (GO:0031091)|platelet dense tubular network (GO:0031094)|protein C inhibitor-coagulation factor V complex (GO:0097181)|protein C inhibitor-coagulation factor Xa complex (GO:0097182)|protein C inhibitor-coagulation factor XI complex (GO:0097183)|protein C inhibitor-KLK3 complex (GO:0036029)|protein C inhibitor-plasma kallikrein complex (GO:0036030)|protein C inhibitor-PLAT complex (GO:0036026)|protein C inhibitor-PLAU complex (GO:0036027)|protein C inhibitor-thrombin complex (GO:0036028)|protein C inhibitor-TMPRSS11E complex (GO:0036025)|protein C inhibitor-TMPRSS7 complex (GO:0036024)|protein complex (GO:0043234)	acrosin binding (GO:0032190)|glycosaminoglycan binding (GO:0005539)|heparin binding (GO:0008201)|phosphatidylcholine binding (GO:0031210)|protease binding (GO:0002020)|retinoic acid binding (GO:0001972)|serine-type endopeptidase inhibitor activity (GO:0004867)			endometrium(3)|large_intestine(5)|lung(18)|ovary(2)|skin(5)|upper_aerodigestive_tract(3)	36				COAD - Colon adenocarcinoma(157;0.21)	Drotrecogin alfa(DB00055)|Urokinase(DB00013)	ATGGTGCACAAAGCTGTGGTG	0.577																																						dbGAP											0													156.0	157.0	157.0					14																	95058404		2203	4300	6503	-	-	-	SO:0001583	missense	0			M68516	CCDS9928.1	14q32.1	2014-02-18	2005-08-18		ENSG00000188488	ENSG00000188488		"""Serine (or cysteine) peptidase inhibitors"""	8723	protein-coding gene	gene with protein product		601841	"""serine (or cysteine) proteinase inhibitor, clade A (alpha-1 antiproteinase, antitrypsin), member 5"""	PLANH3, PCI		1714450, 8381582, 24172014	Standard	NM_000624		Approved	PAI3, PROCI	uc001ydm.3	P05154	OTTHUMG00000170860	ENST00000554866.1:c.1049A>T	14.37:g.95058404A>T	ENSP00000451126:p.Lys350Ile	Somatic		WXS	Illumina GAIIx	Phase_IV	Q07616|Q9UG30	Missense_Mutation	SNP	pfam_Sepin_dom,superfamily_Sepin_dom,smart_Sepin_dom	p.K350I	ENST00000554866.1	37	c.1049	CCDS9928.1	14	.	.	.	.	.	.	.	.	.	.	A	19.17	3.774795	0.70107	.	.	ENSG00000188488	ENST00000553780;ENST00000554866;ENST00000329597;ENST00000554506;ENST00000537685;ENST00000438291;ENST00000554276	D;D;D;D	0.87966	-2.32;-2.32;-2.32;-2.32	5.49	3.15	0.36227	Serpin domain (3);	0.166495	0.40144	N	0.001180	D	0.95185	0.8439	H	0.98542	4.26	0.80722	D	1	D	0.58268	0.982	D	0.73380	0.98	D	0.94028	0.7298	10	0.87932	D	0	.	7.5329	0.27693	0.8292:0.0:0.1708:0.0	.	350	P05154	IPSP_HUMAN	I	350;350;350;126;202;274;350	ENSP00000450837:K350I;ENSP00000451126:K350I;ENSP00000333203:K350I;ENSP00000451610:K350I	ENSP00000333203:K350I	K	+	2	0	SERPINA5	94128157	0.501000	0.26099	0.966000	0.40874	0.896000	0.52359	1.041000	0.30291	1.023000	0.39654	0.533000	0.62120	AAA	SERPINA5	-	pfam_Sepin_dom,superfamily_Sepin_dom,smart_Sepin_dom	ENSG00000188488		0.577	SERPINA5-003	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	SERPINA5	HGNC	protein_coding	OTTHUMT00000410726.1	62	0.00	0	A	NM_000624		95058404	95058404	+1	no_errors	ENST00000329597	ensembl	human	known	69_37n	missense	56	31.71	26	SNP	0.946	T
TFAP2A	7020	genome.wustl.edu	37	6	10398931	10398931	+	Missense_Mutation	SNP	A	A	G			TCGA-BH-A0BS-01A-11D-A12Q-09	TCGA-BH-A0BS-11A-11D-A12Q-09	A	A					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	81e4b7a4-8d94-4d31-9c08-325ee04f5f36	fec92c99-b092-4b58-add7-e698e2e4161d	g.chr6:10398931A>G	ENST00000482890.1	-	8	1385	c.1033T>C	c.(1033-1035)Tgc>Cgc	p.C345R	TFAP2A_ENST00000379604.2_Missense_Mutation_p.C345R|TFAP2A_ENST00000379613.3_Missense_Mutation_p.C347R|TFAP2A_ENST00000319516.4_Missense_Mutation_p.C341R|TFAP2A_ENST00000379608.3_Missense_Mutation_p.C339R|TFAP2A_ENST00000497266.1_5'UTR			P05549	AP2A_HUMAN	transcription factor AP-2 alpha (activating enhancer binding protein 2 alpha)	345	H-S-H (helix-span-helix), dimerization.				anterior neuropore closure (GO:0021506)|basement membrane organization (GO:0071711)|bone morphogenesis (GO:0060349)|cellular response to iron ion (GO:0071281)|cornea development in camera-type eye (GO:0061303)|embryonic body morphogenesis (GO:0010172)|embryonic cranial skeleton morphogenesis (GO:0048701)|embryonic forelimb morphogenesis (GO:0035115)|embryonic pattern specification (GO:0009880)|epidermis morphogenesis (GO:0048730)|eyelid development in camera-type eye (GO:0061029)|face morphogenesis (GO:0060325)|forebrain neuron development (GO:0021884)|inner ear morphogenesis (GO:0042472)|keratinocyte development (GO:0003334)|kidney development (GO:0001822)|lens induction in camera-type eye (GO:0060235)|metanephric nephron development (GO:0072210)|negative regulation of apoptotic process (GO:0043066)|negative regulation of cell proliferation (GO:0008285)|negative regulation of epidermal growth factor receptor signaling pathway (GO:0042059)|negative regulation of neuron apoptotic process (GO:0043524)|negative regulation of reactive oxygen species metabolic process (GO:2000378)|negative regulation of transcription by competitive promoter binding (GO:0010944)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|negative regulation of transcription, DNA-templated (GO:0045892)|neural crest cell development (GO:0014032)|oculomotor nerve formation (GO:0021623)|optic cup structural organization (GO:0003409)|optic vesicle morphogenesis (GO:0003404)|outflow tract morphogenesis (GO:0003151)|palate development (GO:0060021)|positive regulation of bone mineralization (GO:0030501)|positive regulation of cell migration (GO:0030335)|positive regulation of gene expression (GO:0010628)|positive regulation of neuron apoptotic process (GO:0043525)|positive regulation of tooth mineralization (GO:0070172)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription, DNA-templated (GO:0045893)|regulation of cell differentiation (GO:0045595)|regulation of neuron differentiation (GO:0045664)|retina layer formation (GO:0010842)|sensory perception of sound (GO:0007605)|sympathetic nervous system development (GO:0048485)|transcription from RNA polymerase II promoter (GO:0006366)|trigeminal nerve development (GO:0021559)	centrosome (GO:0005813)|cytoplasm (GO:0005737)|Golgi apparatus (GO:0005794)|intracellular membrane-bounded organelle (GO:0043231)|nucleus (GO:0005634)	chromatin binding (GO:0003682)|core promoter proximal region sequence-specific DNA binding (GO:0000987)|protein dimerization activity (GO:0046983)|protein homodimerization activity (GO:0042803)|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 (GO:0000982)|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 core promoter proximal region sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription (GO:0001077)|RNA polymerase II core promoter sequence-specific DNA binding (GO:0000979)|RNA polymerase II distal enhancer sequence-specific DNA binding (GO:0000980)|RNA polymerase II transcription coactivator activity (GO:0001105)|RNA polymerase II transcription corepressor activity (GO:0001106)|sequence-specific DNA binding (GO:0043565)|sequence-specific DNA binding RNA polymerase II transcription factor activity (GO:0000981)|transcription coactivator activity (GO:0003713)|transcription regulatory region DNA binding (GO:0044212)|transcription regulatory region sequence-specific DNA binding (GO:0000976)			breast(1)|endometrium(1)|large_intestine(5)|lung(5)|ovary(1)	13	Breast(50;0.0427)|Ovarian(93;0.0991)	all_hematologic(90;0.107)				AACTCTTTGCATATCTGTCTG	0.582																																						dbGAP											0													94.0	102.0	100.0					6																	10398931		2203	4300	6503	-	-	-	SO:0001583	missense	0			X52611	CCDS4510.1, CCDS34337.1, CCDS43422.1	6p24.3	2013-09-19	2001-11-28		ENSG00000137203	ENSG00000137203			11742	protein-coding gene	gene with protein product		107580	"""transcription factor AP-2 alpha (activating enhancer-binding protein 2 alpha)"""	TFAP2, AP2TF		1916817, 3063603	Standard	NM_001032280		Approved	AP-2	uc003myr.3	P05549	OTTHUMG00000014235	ENST00000482890.1:c.1033T>C	6.37:g.10398931A>G	ENSP00000418541:p.Cys345Arg	Somatic		WXS	Illumina GAIIx	Phase_IV	Q13777|Q5TAV5|Q8N1C6	Missense_Mutation	SNP	pfam_TF_AP2_C,prints_TF_AP2_C,prints_TF_AP2_alpha_N	p.C345R	ENST00000482890.1	37	c.1033	CCDS4510.1	6	.	.	.	.	.	.	.	.	.	.	A	25.5	4.647373	0.87958	.	.	ENSG00000137203	ENST00000379613;ENST00000379604;ENST00000319516;ENST00000379608;ENST00000482890	D;D;D;D;D	0.97138	-4.26;-4.26;-4.26;-4.26;-4.26	5.7	5.7	0.88788	Transcription factor AP-2, C-terminal (1);	0.000000	0.85682	D	0.000000	D	0.98391	0.9465	M	0.84683	2.71	0.80722	D	1	D;D;D	0.89917	0.996;0.998;1.0	D;D;D	0.97110	0.996;0.96;1.0	D	0.99785	1.1029	10	0.87932	D	0	-8.27	15.9756	0.80060	1.0:0.0:0.0:0.0	.	341;345;339	Q5TAV5;P05549;Q8N1C6	.;AP2A_HUMAN;.	R	347;345;341;339;345	ENSP00000368933:C347R;ENSP00000368924:C345R;ENSP00000316516:C341R;ENSP00000368928:C339R;ENSP00000418541:C345R	ENSP00000316516:C341R	C	-	1	0	TFAP2A	10506917	1.000000	0.71417	0.934000	0.37439	0.951000	0.60555	9.339000	0.96797	2.171000	0.68590	0.533000	0.62120	TGC	TFAP2A	-	pfam_TF_AP2_C	ENSG00000137203		0.582	TFAP2A-007	KNOWN	not_organism_supported|basic|appris_candidate|CCDS	protein_coding	TFAP2A	HGNC	protein_coding	OTTHUMT00000353619.2	73	0.00	0	A	NM_003220		10398931	10398931	-1	no_errors	ENST00000379604	ensembl	human	known	69_37n	missense	75	34.21	39	SNP	1.000	G
TMEM27	57393	genome.wustl.edu	37	X	15682471	15682471	+	Missense_Mutation	SNP	C	C	T			TCGA-BH-A0BS-01A-11D-A12Q-09	TCGA-BH-A0BS-11A-11D-A12Q-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	81e4b7a4-8d94-4d31-9c08-325ee04f5f36	fec92c99-b092-4b58-add7-e698e2e4161d	g.chrX:15682471C>T	ENST00000380342.3	-	2	361	c.106G>A	c.(106-108)Gga>Aga	p.G36R		NM_020665.4	NP_065716.1	Q9HBJ8	TMM27_HUMAN	transmembrane protein 27	36					positive regulation of amino acid transport (GO:0051957)|positive regulation of calcium ion-dependent exocytosis (GO:0045956)|positive regulation of insulin secretion involved in cellular response to glucose stimulus (GO:0035774)|positive regulation of SNARE complex assembly (GO:0035543)	brush border membrane (GO:0031526)|cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)	metallopeptidase activity (GO:0008237)|peptidyl-dipeptidase activity (GO:0008241)			endometrium(3)|lung(4)|ovary(1)	8	Hepatocellular(33;0.183)					GCTTTATCTCCCAGAGCTGTT	0.378																																						dbGAP											0													109.0	84.0	93.0					X																	15682471		2201	4290	6491	-	-	-	SO:0001583	missense	0			AF229179	CCDS14170.1	Xp22	2012-04-13			ENSG00000147003	ENSG00000147003			29437	protein-coding gene	gene with protein product	"""collectrin"""	300631				11278314	Standard	NM_020665		Approved	NX17	uc004cxc.2	Q9HBJ8	OTTHUMG00000021181	ENST00000380342.3:c.106G>A	X.37:g.15682471C>T	ENSP00000369699:p.Gly36Arg	Somatic		WXS	Illumina GAIIx	Phase_IV	B2R9M1|Q6UW07	Missense_Mutation	SNP	NULL	p.G36R	ENST00000380342.3	37	c.106	CCDS14170.1	X	.	.	.	.	.	.	.	.	.	.	C	15.78	2.934375	0.52866	.	.	ENSG00000147003	ENST00000380342	T	0.61980	0.06	5.54	5.54	0.83059	.	0.000000	0.85682	D	0.000000	T	0.82181	0.4981	M	0.86651	2.83	0.58432	D	0.999996	D	0.89917	1.0	D	0.97110	1.0	D	0.85375	0.1116	10	0.87932	D	0	-0.8704	16.9047	0.86123	0.0:1.0:0.0:0.0	.	36	Q9HBJ8	TMM27_HUMAN	R	36	ENSP00000369699:G36R	ENSP00000369699:G36R	G	-	1	0	TMEM27	15592392	1.000000	0.71417	1.000000	0.80357	0.159000	0.22180	4.728000	0.62000	2.456000	0.83038	0.529000	0.55759	GGA	TMEM27	-	NULL	ENSG00000147003		0.378	TMEM27-001	KNOWN	basic|appris_principal|CCDS	protein_coding	TMEM27	HGNC	protein_coding	OTTHUMT00000055879.1	339	0.00	0	C	NM_020665		15682471	15682471	-1	no_errors	ENST00000380342	ensembl	human	known	69_37n	missense	293	36.85	171	SNP	1.000	T
